id	category	name	description	provided_by	synonym	0000231	0000589	0100001	Date	comment	consider	created_by	creation_date	deprecated	has_alternative_id	has_db_xref	has_o_b_o_format_version	homepage	is_class_level	is_metadata_tag	knowledge_source	license	logical_interpretation	mondo#excluded_synonym	mondo#pathogenesis	mondo#related	object	predicate	relation	see_also	shorthand	source	subject	type
MONDO:0005352	biolink:NamedThing	conduct disorder	A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.	mondoexuq1wtf												ICD10:F91|EFO:0004216|ICD10:F91.9|SCTID:430909002|MESH:D019955|ICD9:312.9|DOID:12995|COHD:443617|NCIT:C89329|ICD9:312.89																		owl:Class
MONDO:0000592	biolink:NamedThing	specific developmental disorder	A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.	mondoexuq1wtf	specific developmental disorder|specific delays in development											ICD9:315.8|SCTID:10720004|DOID:0060038																		owl:Class
MONDO:0019098	biolink:NamedThing	autoimmune thrombocytopenia	An autoimmune form of thrombocytopenia.	mondoexuq1wtf												UMLS:C0242584|ICD10:D69.3|SCTID:128091003|Orphanet:71203|MedDRA:10050245																		owl:Class
MONDO:0002049	biolink:NamedThing	thrombocytopenia	A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.	mondoexuq1wtf	platelet count decreased|thrombocytopenic disorder											DOID:1588|UMLS:C0040034|MESH:D013921|SCTID:302215000|NCIT:C3408|UMLS:CN130080|ICD10:D69.6|ICD9:287.5																		owl:Class
MONDO:0008952	biolink:NamedThing	cerebrofaciothoracic dysplasia	Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	mondoexuq1wtf	pascual-Castroviejo syndrome type 1|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|pascual-Castroviejo syndrome|CFSMR|cerebro facio thoracic dysplasia|cerebrofaciothoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome											OMIM:213980|MESH:C565862|Orphanet:1394|SCTID:720635002|ICD10:Q87.5|GARD:0001210														https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia				owl:Class
MONDO:0002320	biolink:NamedThing	congenital nervous system disorder	An abnormality of the nervous system that is present at birth or detected in the neonatal period.	mondoexuq1wtf	congenital neurologic anomaly|congenital abnormality of the nervous system|congenital nervous system disorder											DOID:2490|NCIT:C97172|ICD9:742																		owl:Class
MONDO:0001762	biolink:NamedThing	dentine erosion	A tooth erosion, non-bacterial that involves the dentine.	mondoexuq1wtf	tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial											ICD9:521.32|DOID:13629																		owl:Class
MONDO:0003900	biolink:NamedThing	connective tissue disease	A disease involving the connective tissue.	mondoexuq1wtf	disorder of connective tissue|connective tissue disorder|connective tissue disease or disorder|connective tissue disease|disease or disorder of connective tissue|tissue disease, connective|connective tissue disorders|primary disorder of connective tissue|disease of connective tissue|disease, connective tissue|connective tissue diseases											NCIT:C26729|UMLS:C0009782|MESH:D003240|DOID:65|SCTID:105969002|COHD:253549														https://github.com/monarch-initiative/mondo/issues/3570				owl:Class
MONDO:0004803	biolink:NamedThing	disseminated eosinophilic collagen disease		mondoexuq1wtf												ICD9:710.8|DOID:9499|UMLS:C0263662|SCTID:423486005																		owl:Class
MONDO:0015691	biolink:NamedThing	hypereosinophilic syndrome	Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.	mondoexuq1wtf	hypereosinophilic disorder|eosinophilia|eosinophilic leukocytosis|hypereosinophilic syndrome|hypereosinophilic disease|HES											Orphanet:168956|NCIT:C27038|GARD:0002804|MedDRA:10048643|MESH:D017681|ICD10:D72.1|ICD9:288.3|UMLS:C1540912|EFO:1001467|ICDO:9964/3|ICD10:D47.5|SCTID:419455006|DOID:999																		owl:Class
MONDO:0010901	biolink:NamedThing	HEC syndrome	HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.	mondoexuq1wtf	hydrocephalus, endocardial fibroelastosis, and cataracts|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|HEC syndrome|hydrocephalus-endocardial fibroelastosis-cataract syndrome					Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy						UMLS:C1833607|SCTID:721015008|GARD:0002620|ICD10:Q87.8|OMIM:600559|MESH:C535855|Orphanet:2119														https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome				owl:Class
MONDO:0002254	biolink:NamedThing	syndromic disease	A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.	mondoexuq1wtf	syndromes|syndromic disease or disorder|syndrome associated with disease or disorder|syndrome|syndromic disease|cluster, symptom|symptom cluster|clusters, symptom|symptom clusters											NCIT:C28193|OGMS:0000086|UMLS:C0039082|MESH:D013577|DOID:225																		owl:Class
MONDO:0011239	biolink:NamedThing	colobomatous macrophthalmia-microcornea syndrome		mondoexuq1wtf	MACOM syndrome|macrophthalmia, colobomatous, with microcornea|MACOM											OMIM:602499|Orphanet:468672|MESH:C566533|UMLS:C1865286																		owl:Class
MONDO:0020146	biolink:NamedThing	major induction processes eye anomaly		mondoexuq1wtf												Orphanet:98554																		owl:Class
MONDO:0019077	biolink:NamedThing	warty dyskeratoma	A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.	mondoexuq1wtf	follicular dyskeratoma|isolated follicular keratosis											Orphanet:69745|UMLS:C0334063|MedDRA:10068856|SCTID:254676008|NCIT:C4087																		owl:Class
MONDO:0002093	biolink:NamedThing	acanthoma	A benign skin neoplasm composed of epithelial cells.	mondoexuq1wtf	acanthoma|acanthoma (disease)		acanthoma (disease)									NCIT:C7419|UMLS:C0846967|MESH:D049309|GARD:0008604|HP:0025432|DOID:174																		owl:Class
MONDO:0021008	biolink:NamedThing	secondary antiphospholipid syndrome	An antiphospholipid syndrome that occurs alongside another autoimmune disorder.	mondoexuq1wtf												SCTID:239895006|ICD9:795.79|UMLS:C0409983																		owl:Class
MONDO:0007140	biolink:NamedThing	antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.	mondoexuq1wtf	antiphospholipid syndrome, familial|familial antiphospholipid syndrome|antiphospholipid syndrome|antiphospholipid antibody syndrome|Hughes syndrome|lupus anticoagulant, familial											NCIT:C61283|UMLS:C0085278|OMIM:107320|ICD10:D68.61|SCTID:26843008|ICD9:279.49|GARD:0005824|MESH:D016736|DOID:2988																		owl:Class
MONDO:0006480	biolink:NamedThing	undifferentiated pleomorphic sarcoma, inflammatory variant	An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.	mondoexuq1wtf	inflammatory MFH|undifferentiated pleomorphic sarcoma, inflammatory variant|inflammatory malignant fibrous histiocytoma|Xanthosarcoma|malignant xanthogranuloma											UMLS:C1334180|NCIT:C6497|EFO:1000608|DOID:6192																		owl:Class
MONDO:0002142	biolink:NamedThing	undifferentiated pleomorphic sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.	mondoexuq1wtf	Storiform-pleomorphic MFH|histiocytoma, fibrous, malignant|unclassified pleomorphic sarcoma|adult undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic sarcoma|fibrous histiocytoma, malignant|malignant fibrous histiocytoma of soft tissue and bone|UPS|malignant fibrohistiocytic tumors|malignant fibrous histiocytoma|fibroxanthosarcoma|Unclassified Pleomorphic sarcoma (formerly "MFH")|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibrous histiocytoma of the soft tissue and bone|malignant fibroxanthoma|undifferentiated pleomorphic soft tissue sarcoma|fibroxanthosarcoma (morphologic abnormality)|MFH|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|Storiform-pleomorphic fibrous histiocytoma|malignant fibrous cytoma|fibrous histiocytoma, malignant (morphologic abnormality)|adult malignant fibrous histiocytoma|Storiform-pleomorphic malignant fibrous histiocytoma|adult unclassified pleomorphic sarcoma										MONDO:0016069	Orphanet:2023|MedDRA:10025552|DOID:1907|SCTID:443439001|EFO:1001972|NCIT:C114541|ICD9:171.9|ICDO:8830/3|HGNC:16982|GARD:0006963|ONCOTREE:MFH|NCIT:C4247|ICD10:C49.9|MESH:D051677														https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma				owl:Class
MONDO:0004905	biolink:NamedThing	intestinal disaccharidase deficiency	Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.	mondoexuq1wtf	intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption										MONDO:0006062	ICD9:271.3|NCIT:C34731|EFO:1000060|DOID:9868|COHD:192286|SCTID:22169002																		owl:Class
MONDO:0020598	biolink:NamedThing	malabsorption syndrome	A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.	mondoexuq1wtf	malabsorption syndrome|malabsorption											NCIT:C3214|SCTID:32230006|MESH:D008286|UMLS:C0024523																		owl:Class
MONDO:0008974	biolink:NamedThing	Greenberg dysplasia	A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.	mondoexuq1wtf	GRBGD|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|moth-eaten skeletal dysplasia|skeletal dysplasia, Greenberg type|autosomal recessive lethal chondrodystrophy with congenital hydrops|hem/Greenberg dysplasia|Greenberg dysplasia|hem|hydrops, ectopic calcification, moth-eaten skeletal dysplasia|hem dysplasia|chondrodystrophy, hydropic and prenatally lethal type|Greenberg skeletal dysplasia											GARD:0008754|Orphanet:1426|ICD10:Q77.3|OMIM:215140|UMLS:CN199524|MESH:C535858|SCTID:389261002|UMLS:C2931048|DOID:0111588														https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia				owl:Class
MONDO:0019701	biolink:NamedThing	chondrodysplasia punctata	A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.	mondoexuq1wtf	chondrodysplasia calcificans congenita|chondrodysplasia punctata (stippled epiphyses) Group|chondrodysplasia punctata congenita|CDP											UMLS:C0008445|ICD9:756.59|Orphanet:93442|DOID:2581|SCTID:360507004|ICD10:Q77.3|MESH:D002806|GARD:0008542|NCIT:C84632																		owl:Class
MONDO:0002871	biolink:NamedThing	testicular trophoblastic tumor	A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.	mondoexuq1wtf	testicular trophoblastic tumor											UMLS:C1515301|DOID:4084|NCIT:C39934																		owl:Class
MONDO:0002872	biolink:NamedThing	trophoblastic neoplasm	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.	mondoexuq1wtf	trophoblast tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblastic neoplasm (morphologic abnormality)|trophoblast neoplasm|trophoblast neoplasm (disease)|trophoblastic tumor|trophoblastic tumor (qualifier value)|neoplasm of trophoblast|trophoblastic neoplasm|tumor of trophoblast|trophoblastic neoplasms											MESH:D014328|DOID:4085|UMLS:C0041182|NCIT:C3422																		owl:Class
MONDO:0009952	biolink:NamedThing	radioulnar synostosis-developmental delay-hypotonia syndrome	Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).	mondoexuq1wtf	Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|der Kaloustian mcintosh silver syndrome|radioulnar synostosis with developmental delay and hypotonia syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance											Orphanet:3270|GARD:0001810|MESH:C564856|OMIM:266255|SCTID:721883006|ICD10:Q87.8|MESH:C538217														https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome				owl:Class
MONDO:0017985	biolink:NamedThing	congenital radioulnar synostosis	Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.	mondoexuq1wtf	radioulnar synostosis|radioulnar fusion|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radial-ulnar synostosis|radio-ulnar synostosis|radio-ulnar synostosis type 1											COHD:438851|GARD:0010876|SCTID:33313004|OMIM:179300|Orphanet:3269|MESH:C562408|DOID:9827|GARD:0004630|ICD10:Q74.0|ICD9:755.53|HP:0002974																		owl:Class
MONDO:0100110	biolink:NamedThing	adenovirus renal infection		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0100338	biolink:NamedThing	urinary tract infection		mondoexuq1wtf	urinary tract infection (disease)		urinary tract infection (disease)																											owl:Class
MONDO:0020635	biolink:NamedThing	anaplastic meningioma	A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).	mondoexuq1wtf	malignant meningioma|anaplastic meningioma|anaplastic (malignant) meningioma|meningioma, malignant|meningioma, anaplastic, malignant											ONCOTREE:ANM|ICDO:9530/3|NCIT:C4051																		owl:Class
MONDO:0020633	biolink:NamedThing	anaplastic cancer		mondoexuq1wtf	anaplastic malignant neoplasm											NCIT:C36025|UMLS:C1332287																		owl:Class
MONDO:0003318	biolink:NamedThing	mixed cell type kidney Wilms' tumor	Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).	mondoexuq1wtf	Mixed cell type Wilms tumor|mixed cell type renal Wilms tumor|mixed cell type renal Wilms' tumor|mixed cell type nephroblastoma|mixed cell type renal adenosarcoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilm's tumor|mixed cell type kidney Wilms tumor											DOID:5179|UMLS:C0279611|NCIT:C9149																		owl:Class
MONDO:0019004	biolink:NamedThing	kidney Wilms tumor	An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.	mondoexuq1wtf	renal Wilms tumor|nephroblastoma, malignant|adult nephroblastoma|kidney Wilms tumor|renal embryonic tumor|childhood renal Wilms' cancer|embryonal nephroma|nonanaplastic renal Wilms tumor|Wilms tumor|renal Wilms' tumor|Wilms' tumor of the kidney|childhood renal Wilms tumor|Wilms tumor of the kidney|Wilms' tumor|Nonanaplastic renal Wilm's tumor|nephroblastoma											DOID:5176|ICD10:C64|UMLS:C0027708|Orphanet:654|NCIT:C40407|ONCOTREE:WT|DOID:2154|SCTID:302849000|MedDRA:10029145|ICDO:8960/3|DC:0000457																		owl:Class
MONDO:0013875	biolink:NamedThing	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.	mondoexuq1wtf	3-MGCA-4 (formerly)|SERAC1 3-methylglutaconic aciduria|MEGDEL|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|MEGDEL syndrome|3-MGCA type IV (formerly)|3-methylglutaconic aciduria type VI|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria type 6|SERAC1 defect|3-Methylglutaconic aciduria, type 6|MGCA6|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome					Present because it is in the OMIM series.						DOID:0110001|Orphanet:352328|OMIM:614739|ICD10:E71.1|SCTID:711409002|UMLS:C3553597|GARD:0012963																		owl:Class
MONDO:0017359	biolink:NamedThing	3-methylglutaconic aciduria	A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.	mondoexuq1wtf												MESH:C579867|DOID:0060336|Orphanet:289902|UMLS:C3696376|OMIMPS:250950|SCTID:237950009|ICD10:E71.1|NCIT:C98678|ICD10:E71.111																		owl:Class
MONDO:0014688	biolink:NamedThing	short-rib thoracic dysplasia 14 with polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.	mondoexuq1wtf	SRTD14|short-rib thoracic dysplasia 14 with polydactyly											OMIM:616546|UMLS:C4225286|ICD10:Q04.3|DOID:0110096																		owl:Class
MONDO:0018770	biolink:NamedThing	Jeune syndrome	Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.	mondoexuq1wtf	short-rib thoracic dysplasia|asphyxiating thoracic dystrophy of the newborn|thoracic pelvic phalangeal dystrophy|asphyxiating thoracic dystrophy|Jeune syndrome|Jeune asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|Jeune's syndrome|infantile thoracic dystrophy|short-rib thoracic dysplasia with or without polydactyly|JATD|ATD											SCTID:75049004|UMLS:C0265275|GARD:0003049|ICD10:Q77.2|NCIT:C84794|MESH:C537571|MedDRA:10057621|Orphanet:474|DOID:0050592|OMIMPS:208500																		owl:Class
MONDO:0009405	biolink:NamedThing	cervical hypertrichosis-peripheral neuropathy syndrome	Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	cervical hypertrichosis peripheral neuropathy|hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy											OMIM:239840|Orphanet:2218|MESH:C565492|UMLS:C2931676|GARD:0001226|UMLS:C1855902														https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy				owl:Class
MONDO:0019280	biolink:NamedThing	hypertrichosis	Excessive hair growth anywhere on the body.	mondoexuq1wtf	hypertrichosis (disease)|hypertrichosis		hypertrichosis (disease)									HP:0000998|ICD10:L68.3|SCTID:29966009|DOID:420|MESH:D006983|ICD10:L68|MedDRA:10020864|UMLS:C0020555|ICD10:L68.9|Orphanet:79365																		owl:Class
MONDO:0015476	biolink:NamedThing	cysts and fistulae of the face and oral cavity		mondoexuq1wtf												Orphanet:155835|ICD10:Q18.0																		owl:Class
MONDO:0019755	biolink:NamedThing	developmental defect during embryogenesis	A disease that has its basis in the disruption of embryonic morphogenesis.	mondoexuq1wtf	congenital malformation syndrome|embryonic morphogenesis disease|developmental defect during embryogenesis|rare developmental defect during embryogenesis|disorder of embryonic morphogenesis|malformation syndrome											UMLS:CN206687|NCIT:C99267|Orphanet:93890|ICD9:759.7|UMLS:C1302790|SCTID:400038003																		owl:Class
MONDO:0010208	biolink:NamedThing	wrinkly skin syndrome	Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).	mondoexuq1wtf	wrinkled skin syndrome|WSS|wrinkly skin syndrome											SCTID:238875009|OMIM:278250|Orphanet:2834|ICD9:259.8|GARD:0000273|ICD10:Q82.8|UMLS:C0406587|MESH:C536750																		owl:Class
MONDO:0018163	biolink:NamedThing	autosomal recessive cutis laxa type 2A	An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.	mondoexuq1wtf	ARCL2A|cutis laxa, debre type|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive, type 2A|cutis laxa, autosomal recessive, type IIA|cutis laxa with bone dystrophy|autosomal recessive cutis laxa type IIA|cutis laxa with congenital disorder of glycosylation|cutis laxa with growth and developmental delay|cutis laxa, autosomal recessive type 2A											GARD:0001638|DOID:0070134|OMIM:219200|Orphanet:357058|ICD10:Q82.8																		owl:Class
MONDO:0007800	biolink:NamedThing	chromosome 18p deletion syndrome	Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.	mondoexuq1wtf	18p-|De Grouchy syndrome|deletion 18p syndrome|18p- syndrome|18P- syndrome|18P syndrome|chromosome 18p deletion|monosomy 18p|monosomy type 18p|chromosome 18p deletion syndrome											DOID:0060406|MESH:C538309|Orphanet:1598|SCTID:270890001|UMLS:C0432442|GARD:0008631|NCIT:C84521|ICD10:Q93.5|ICD9:758.39|OMIM:146390																		owl:Class
MONDO:0009477	biolink:NamedThing	Stromme syndrome	Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).	mondoexuq1wtf	lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|jejunal atresia with microcephaly and ocular anomalies|jejunal atresia-microcephaly-ocular anomalies syndrome|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|CILD31|ciliary dyskinesia, primary, type 31|STROMS|primary ciliary dyskinesia 31|ciliary dyskinesia, primary, 31, formerly|Stromme syndrome|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31											DOID:0110595|Orphanet:444069|OMIM:616369|ICD10:Q87.8|EFO:0009160|OMIM:243605|Orphanet:506307|UMLS:CN237682|MESH:C565460																		owl:Class
MONDO:0019117	biolink:NamedThing	genetic nervous system disorder	An instance of nervous system disease that is caused by a modification of the individual's genome.	mondoexuq1wtf	rare genetic neurological disorder|genetic neurological disorder|genetic nervous system disorder											Orphanet:71859|UMLS:CN205639																		owl:Class
MONDO:0018978	biolink:NamedThing	IgG4-related mediastinitis		mondoexuq1wtf	mediastinal fibrosis|fibrosing mediastinitis|idiopathic mediastinal fibrosis|sclerosing mediastinitis											MESH:C536136|ICD10:J98.5|Orphanet:63999|MedDRA:10027074|GARD:0008337																		owl:Class
MONDO:0005087	biolink:NamedThing	respiratory system disease	A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.	mondoexuq1wtf	respiratory system disease or disorder|respiratory disorder|disorder of respiratory system|respiratory system disease|respiratory system disorder|respiratory disease|disease or disorder of respiratory system|disease of respiratory system											ICD9:508|ICD9:510-519.99|ICD9:516|ICD9:508.1|ICD9:V12.60|ICD10:J98|ICD9:519|ICD9:460-519.99|DOID:1579|ICD9:517|ICD9:516.8|ICD9:500-508.99|ICD9:516.9|ICD9:508.9|ICD9:503|ICD9:519.1|EFO:0000684|SCTID:50043002|ICD9:519.3|ICD10:J96-J99|ICD9:508.8|ICD9:V47.2|MESH:D012140|NCIT:C26871|ICD9:517.8|ICD9:519.8|ICD9:519.9																		owl:Class
MONDO:0022636	biolink:NamedThing	candida glabrata infection		mondoexuq1wtf	Torulopsis glabrata (formerly)|candida glabrata											GARD:0008171														https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata				owl:Class
MONDO:0002026	biolink:NamedThing	candidiasis	Infection with the organism Candida.	mondoexuq1wtf	thrush|infections, Candida <Debaryomycetaceae>|disseminated candidiasis|Candida infection|Candida <Debaryomycetaceae> infection|systemic candidiasis|Candidosis											ICD9:112|MESH:D002177|ICD10:B37|ICD9:112.89|UMLS:C0006840|DOID:1508|ICD9:112.9|ICD10:B37.9|SCTID:78048006|NCIT:C26711|COHD:433968																		owl:Class
MONDO:0043330	biolink:NamedThing	Mirizzi syndrome	Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.	mondoexuq1wtf	Mirizzis syndrome|mirizzi's syndrome|syndrome, Mirizzi's|syndrome, Mirizzi|hepatic duct dystonia syndrome|Mirizzi syndrome|Mirizzi's syndrome											UMLS:C0267878|SCTID:4283007|MESH:D057792|GARD:0010177|Orphanet:521219|EFO:1001860																		owl:Class
MONDO:0006757	biolink:NamedThing	extrahepatic cholestasis	Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.	mondoexuq1wtf	extrahepatic bile duct cholestasis|extrahepatic obstructive biliary disease|cholestasis of extrahepatic bile duct|extrahepatic biliary stasis|extrahepatic cholestasis (finding)											SCTID:8262006|UMLS:C0005398|DOID:13619|MedDRA:10008637|MESH:D001651|EFO:1000933																		owl:Class
MONDO:0033667	biolink:NamedThing	Delpire-McNeill syndrome		mondoexuq1wtf	DELMNES											OMIM:619083																		owl:Class
MONDO:0003847	biolink:NamedThing	Mendelian disease	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.	mondoexuq1wtf	hereditary diseases|genetic condition|genetic disease|inherited genetic disease|inherited disease|familial disorder|genetic disorder|hereditary disease|inborn disorder|molecular disease|hereditary disease or disorder					Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.						ICD9:799.89|MESH:D030342|EFO:0000508|DOID:630|NCIT:C3101|UMLS:C0019247|SCTID:32895009																		owl:Class
MONDO:0007399	biolink:NamedThing	TWIST1-related craniosynostosis	Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.	mondoexuq1wtf	craniosynostosis type 1|craniosynostosis 1|CRS1|CRS|craniostenosis											SCTID:57219006|OMIM:123100|UMLS:CN029978														https://github.com/monarch-initiative/mondo/issues/2659				owl:Class
MONDO:0018114	biolink:NamedThing	isolated brachycephaly	Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.	mondoexuq1wtf	non-syndromic bicoronal synostosis											Orphanet:35099|ICD10:Q75.0																		owl:Class
MONDO:0044649	biolink:NamedThing	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome		mondoexuq1wtf	Gershoni-Baruch syndrome											Orphanet:496693																		owl:Class
MONDO:0017432	biolink:NamedThing	syndrome with limb reduction defects		mondoexuq1wtf												UMLS:CN203180|Orphanet:294955																		owl:Class
MONDO:0001815	biolink:NamedThing	extrapyramidal and movement disease		mondoexuq1wtf												ICD9:333.90|ICD10:G20-G26|DOID:13839|ICD10:G25.9|UMLS:C0477355																		owl:Class
MONDO:0005395	biolink:NamedThing	movement disorder	Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.	mondoexuq1wtf	movement disorders|movement disease											COHD:372604|DOID:480|MESH:D009069|SCTID:60342002|EFO:0004280|NCIT:C116757|ICD9:333.99|ICD9:333.90																		owl:Class
MONDO:0013481	biolink:NamedThing	chromosome 13q14 deletion syndrome	Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	mondoexuq1wtf	Del(13)(q14)|chromosome 13Q deletion syndrome|del(13q14)|chromosome 13q14 deletion syndrome|deletion 13q14|monosomy type 13q14|monosomy 13q14											ICD10:Q93.5|MESH:C535484|NCIT:C36421|DOID:0060391|OMIM:613884|Orphanet:1587																		owl:Class
MONDO:0000761	biolink:NamedThing	syndrome caused by partial chromosomal deletion		mondoexuq1wtf	chromosomal deletion syndrome					Editor note: this is used in DOID to encompass typically partial deletions						DOID:0060388																		owl:Class
MONDO:0008656	biolink:NamedThing	benign paroxysmal positional nystagmus	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.	mondoexuq1wtf	vertigo, benign paroxysmal positional|vertigo, benign recurrent|BPPV|benign paroxysmal positional vertigo|familial benign recurrent vertigo|BRV|vertigo, benign recurrent, 1|familial vestibulopathy|vestibulopathy, familial											SCTID:111541001|ICD9:386.11|COHD:81878|DOID:13941|UMLS:C0155502|GARD:0005915|OMIM:193007																		owl:Class
MONDO:0018751	biolink:NamedThing	genetic otorhinolaryngologic disease	An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic otorhinolaryngologic disease											UMLS:CN242186|Orphanet:466084																		owl:Class
MONDO:0033115	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 25		mondoexuq1wtf	autosomal recessive spinocerebellar ataxia 25|SCAR25|spinocerebellar ataxia, autosomal recessive 25											DOID:0080259|OMIM:617584|UMLS:CN349871																		owl:Class
MONDO:0015244	biolink:NamedThing	autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.	mondoexuq1wtf	arca|cerebellar ataxia, autosomal recessive											UMLS:CN226644|Orphanet:1172|OMIMPS:213200|DOID:0050950																		owl:Class
MONDO:0000994	biolink:NamedThing	malignant prostate phyllodes tumor	An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.	mondoexuq1wtf	malignant prostate phyllodes tumor|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes neoplasm of the prostate|malignant phyllodes neoplasm of prostate|malignant phyllodes tumor of the prostate|prostate malignant phyllodes tumor											UMLS:C1334615|DOID:10289|NCIT:C5531																		owl:Class
MONDO:0021102	biolink:NamedThing	prostate phyllodes tumor	An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.	mondoexuq1wtf	prostate phyllodes neoplasm|prostate cystosarcoma phyllodes|cystosarcoma phyllodes of the prostate|prostate gland phyllodes tumor|prostate phyllodes tumor|phyllodes neoplasm of the prostate|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate|phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate											NCIT:C7574|GARD:0009404|UMLS:C1335409|Orphanet:498228																		owl:Class
MONDO:0003427	biolink:NamedThing	bronchus adenoma	A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.	mondoexuq1wtf	papillary adenoma of type II pneumocytes|bronchial adenoma NOS (morphologic abnormality)|lung papillary adenoma|bronchial adenoma|type II pneumocyte adenoma|adenoma, bronchial, benign|adenoma of the bronchus|bronchus adenoma|peripheral papillary tumor of type II pneumocytes|adenoma of bronchus											NCIT:C3494|UMLS:C0149845|DOID:5391|ICDO:8260/0																		owl:Class
MONDO:0002533	biolink:NamedThing	papillary adenoma	An adenoma characterized by the presence of papillary epithelial patterns.	mondoexuq1wtf	papillary adenoma NOS (morphologic abnormality)|papillary adenoma|glandular papilloma|adenoma, papillary, benign											NCIT:C79951|UMLS:C0205650|DOID:3172																		owl:Class
MONDO:0014640	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.	mondoexuq1wtf	frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|FTDALS3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3											UMLS:C4225326|OMIM:616437|DOID:0110068																		owl:Class
MONDO:0005144	biolink:NamedThing	familial amyotrophic lateral sclerosis	An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary amyotrophic lateral sclerosis											OMIMPS:105400|EFO:0001356																		owl:Class
MONDO:0024623	biolink:NamedThing	otorhinolaryngologic disease	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.	mondoexuq1wtf	diseases, otorhinolaryngological|ENT diseases|otolaryngological disease|ear, nose and throat disorder|otorhinolaryngological disease|disease, ENT|disease, otolaryngological|disease, otorhinolaryngologic|disease, otolaryngologic|otolaryngologic disorder|otorhinolaryngological diseases|diseases, otorhinolaryngologic|otolaryngologic diseases|diseases, otolaryngological|diseases, otolaryngologic|ear, nose or throat disorder|ear/nose/throat disease|ENT disease|otolaryngologic disease|otolaryngological diseases|otorhinolaryngologic disease|diseases, ENT|disease, otorhinolaryngological					Editor note: consider uberon class						UMLS:C0395797|SCTID:232208008|MESH:D010038|NCIT:C118420|UMLS:C0029896|ICD9:478.19																		owl:Class
MONDO:0021059	biolink:NamedThing	head or neck disease/disorder	Any disease or disorder affecting the head and/or neck region.	mondoexuq1wtf	head or neck disorder|craniocervical region disease|disorder of craniocervical region|disease of craniocervical region|disease or disorder of craniocervical region|head and neck disorder|craniocervical region disease or disorder											UMLS:C1333941|NCIT:C27571																		owl:Class
MONDO:0007401	biolink:NamedThing	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	mondoexuq1wtf	Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|Braddock Jones Superneau syndrome|Braddock-Jones-Superneau syndrome|hydrocephalus, autosomal dominant|sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|HDCPH1|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome											OMIM:123155|GARD:0000998|Orphanet:1538|ICD10:Q03.1|ICD10:Q75.0|GARD:0001592|UMLS:CN199608|MESH:C563973|SCTID:720813007														https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus				owl:Class
MONDO:0017121	biolink:NamedThing	syndrome with a Dandy-Walker malformation as major feature		mondoexuq1wtf												UMLS:CN202471|Orphanet:269546																		owl:Class
MONDO:0008471	biolink:NamedThing	spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.	mondoexuq1wtf	SEDC|late spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia congenita|SED congenita|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|congenital spondyloepiphyseal dysplasia|Spranger-Wiedemann disease|spondyloepiphyseal dysplasia, congenital type											ICD10:Q77.7|DOID:14789|Orphanet:94068|ICD9:756.9|GARD:0004987|MedDRA:10062920|MESH:C535788|OMIM:183900|SCTID:278713008														https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita				owl:Class
MONDO:0019686	biolink:NamedThing	type 2 collagen-related bone disorder		mondoexuq1wtf												Orphanet:93421|UMLS:CN227672														https://github.com/monarch-initiative/mondo/issues/3574				owl:Class
MONDO:0008179	biolink:NamedThing	paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.	mondoexuq1wtf	rectal pain, familial|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|familial rectal pain|familial rectal syndrome|paroxysmal extreme pain disorder|PEPD|Pexpd											NCIT:C125385|OMIM:167400|ICD9:349.89|DOID:0111537|MESH:C563475|UMLS:C1833661|Orphanet:46348|SCTID:699190008|GARD:0012854														https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder				owl:Class
MONDO:0007765	biolink:NamedThing	hyperostosis cranialis interna		mondoexuq1wtf	hyperostosis cranialis interna (disease)|hyperostosis cranialis interna|HCIN		hyperostosis cranialis interna (disease)									OMIM:144755|Orphanet:443098|ICD10:M85.2|MESH:C564168|HP:0005890																		owl:Class
MONDO:0023603	biolink:NamedThing	hereditary connective tissue disorder	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.	mondoexuq1wtf	inherited disorder of connective tissue|Connective tissue hereditary disorder|hereditary connective tissue disorder|connective tissue hereditary disorder|Hereditary Connective Tissue Disorder|Inherited disorder of connective tissue											NCIT:C97075|SCTID:363045008|UMLS:C0410787																		owl:Class
MONDO:0008127	biolink:NamedThing	ophthalmomandibulomelic dysplasia	Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	mondoexuq1wtf	ophthalmomandibulomelic dysplasia|Pillay syndrome|OMM syndrome|Omm syndrome|Ophthalmo-mandibulo-melic dysplasia											ICD10:Q87.8|OMIM:164900|GARD:0004365|Orphanet:2741|UMLS:C1833872|SCTID:715484003|MESH:C563501																		owl:Class
MONDO:0015218	biolink:NamedThing	syndromic developmental defect of the eye	A developmental defect of the eye that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye											UMLS:CN226635|Orphanet:108987																		owl:Class
MONDO:0020339	biolink:NamedThing	X-linked complex spastic paraplegia		mondoexuq1wtf	complicated X-linked SPG|Complex X-linked HSP|Complex X-linked SPG|complicated X-linked HSP|X-linked complicated spastic paraplegia											Orphanet:98888|ICD10:G11.4																		owl:Class
MONDO:0015150	biolink:NamedThing	complex hereditary spastic paraplegia	A hereditary spastic paraplegia that is part of a larger syndrome.	mondoexuq1wtf	syndromic hereditary spastic paraplegia|complicated SPG|Complex HSP|complicated HSP|complicated hereditary spastic paraplegia|Complex familial spastic paraplegia|syndrome associated with hereditary spastic paraplegia|Complex SPG|complicated familial spastic paraplegia											ICD10:G11.4|UMLS:CN197491|UMLS:C0393556|Orphanet:102013|SCTID:230261006																		owl:Class
MONDO:0014511	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2S	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy type 2S|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|CMT2S|IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2S|Charcot-Marie-Tooth neuropathy, type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2											ICD10:G60.0|UMLS:C4015349|DOID:0110171|OMIM:616155|Orphanet:443073																		owl:Class
MONDO:0018993	biolink:NamedThing	Charcot-Marie-Tooth disease type 2	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.	mondoexuq1wtf	hereditary motor and sensory neuropathy type 2|CMT2|autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|hereditary motor and sensory neuropathy Guadalajara neuronal type|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy Okinawa type											SCTID:715665006|DOID:0050539|ICD9:356.0|GARD:0012431|Orphanet:64746|ICD10:G60.0																		owl:Class
MONDO:0011661	biolink:NamedThing	inflammatory bowel disease 5	An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.	mondoexuq1wtf	IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5											OMIM:606348|UMLS:C1853438|MESH:C565234|DOID:0110889																		owl:Class
MONDO:0005265	biolink:NamedThing	inflammatory bowel disease	A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.	mondoexuq1wtf	inflammatory bowel disease|autoimmune bowel disorder|IBD											UMLS:C0021390|ICD9:558.9|KEGG:05321|NCIT:C3138|MESH:D015212|EFO:0003767|DOID:0050589|OMIMPS:266600|SCTID:24526004																		owl:Class
MONDO:0004394	biolink:NamedThing	maxillary sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	mondoexuq1wtf	squamous cell carcinoma of the maxillary sinus|maxillofacial sinus squamous cell carcinoma|epidermoid carcinoma of maxillary antrum|squamous cell carcinoma of maxillofacial sinus|maxillary sinus squamous cell carcinoma|squamous cell carcinoma of the maxillary antrum|squamous cell carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|epidermoid carcinoma of the maxillary antrum|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillofacial sinus|epidermoid carcinoma of the maxillary sinus|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of maxillary sinus|epidermoid carcinoma of the maxillofacial sinus|maxillary sinus epidermoid carcinoma|maxillary antrum epidermoid carcinoma											SCTID:707354003|UMLS:C1334647|DOID:7910|NCIT:C6064																		owl:Class
MONDO:0044705	biolink:NamedThing	paranasal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	mondoexuq1wtf	squamous cell carcinoma of the nasal cavity and paranasal sinuses|paranasal sinus squamous cell carcinoma|squamous cell carcinoma of paranasal sinus|squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|epidermoid carcinoma of paranasal sinus|epidermoid carcinoma of the paranasal sinus|paranasal sinus epidermoid carcinoma											NCIT:C8193|UMLS:C0280334|Orphanet:500464																		owl:Class
MONDO:0020866	biolink:NamedThing	nasopharyngeal diphtheria	Infection of the nasopharynx by Corynebacterium diphtheriae.	mondoexuq1wtf	Nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|nasopharyngeal diphtheria											NCIT:C34547|SCTID:75589004|ICD9:032.1|UMLS:C0012558																		owl:Class
MONDO:0005504	biolink:NamedThing	diphtheria	A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.	mondoexuq1wtf	Corynebacterium infection											COHD:434568|ICD10:A36.1|UMLS:C0012546|GARD:0001875|ICD10:A36.2|SCTID:397428000|ICD10:A36.3|EFO:0005549|DOID:11405|ICD10:A36.0|ICD9:032|ICD9:032.9|Orphanet:1679|MESH:D004165|ICD10:A36|ICD10:A36.8|ICD10:A36.9|NCIT:C34541|MedDRA:10013023														https://rarediseases.info.nih.gov/diseases/1875/diphtheria				owl:Class
MONDO:0008423	biolink:NamedThing	sinus node disease and myopia		mondoexuq1wtf	sick sinus syndrome and myopia|sinus node disease and myopia|Sss-myopia syndrome											GARD:0004880|MESH:C566690|UMLS:C1866960|OMIM:182190														https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia				owl:Class
MONDO:0012061	biolink:NamedThing	familial sick sinus syndrome	Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.	mondoexuq1wtf	familial sinus node dysfunction|hereditary sick sinus syndrome|sick sinus syndrome 1, autosomal recessive|SSS1											SCTID:233913007|OMIMPS:608567|Orphanet:166282|ICD10:I49.5|MESH:C563907|MedDRA:10040639																		owl:Class
MONDO:0011254	biolink:NamedThing	brachydactyly, intraventricular septal defect, and deafness		mondoexuq1wtf	brachydactyly, intraventricular septal defect, and deafness											MESH:C566521|OMIM:602561|UMLS:C1865182																		owl:Class
MONDO:0005601	biolink:NamedThing	ovarian mucinous adenocarcinoma	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.	mondoexuq1wtf	mucinous carcinoma of the ovary|mucinous adenocarcinoma of the ovary|ovary mucinous adenocarcinoma|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma|ovarian mucinous carcinoma|mucinous carcinoma of ovary											DOID:3606|EFO:0006462|UMLS:C1335167|UMLS:CN205033|ICD10:C56|NCIT:C5243|Orphanet:398961																		owl:Class
MONDO:0004957	biolink:NamedThing	mucinous adenocarcinoma	An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.	mondoexuq1wtf	mucinuos carcinoma|mucin-producing adenocarcinoma|gelatinous adenocarcinoma|mucoid carcinoma|mucin-secreting carcinoma|mucous carcinoma|gelatinous carcinoma|mucinous adenocarcinoma|mucoid adenocarcinoma|adenocarcinoma, mucinous, malignant|colloid carcinoma|mucinous carcinoma|CEMU|mucous adenocarcinoma|mucin-secreting adenocarcinoma|pseudomyxoma peritonei with unknown primary site|colloid adenocarcinoma|mucin-producing adenocarcinoma (morphologic abnormality)											NCIT:C26712|ONCOTREE:CEMU|UMLS:C0007130|DOID:3030|EFO:0000197|ICDO:8480/3|UMLS:C0334368|MESH:D002288																		owl:Class
MONDO:0016191	biolink:NamedThing	qualitative or quantitative defects of titin		mondoexuq1wtf												Orphanet:209053																		owl:Class
MONDO:0016139	biolink:NamedThing	qualitative or quantitative protein defects in neuromuscular diseases		mondoexuq1wtf												UMLS:CN200901|Orphanet:207049																		owl:Class
MONDO:0033043	biolink:NamedThing	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		mondoexuq1wtf	spastic ataxia 8|SPAX8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy											DOID:0080252|UMLS:C4479653|Orphanet:527497|OMIM:617560																		owl:Class
MONDO:0019046	biolink:NamedThing	leukodystrophy	Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.	mondoexuq1wtf	leukodystrophy, hypomyelinating|HLD|hypomyelinating leukodystrophy|hypomyelinating leukoencephalopathy					Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'						COHD:374912|ICD10:E75.2|NCIT:C61253|DOID:0050987|ICD9:330.0|SCTID:192781003|Orphanet:68356|DOID:0060786|MedDRA:10024381|UMLS:C0023520|DOID:10579|OMIMPS:312080|UMLS:CN228461|GARD:0006895														https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy				owl:Class
MONDO:0016649	biolink:NamedThing	Warburg micro syndrome	Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	mondoexuq1wtf	micro syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|WARBM|Warburg-Sjo-Fledelius syndrome|Warburg micro syndrome|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism											DOID:0060237|UMLS:CN158709|OMIMPS:600118|ICD10:Q87.0|Orphanet:2510|GARD:0005534																		owl:Class
MONDO:0015159	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		mondoexuq1wtf	multiple congenital anomalies-intellectual disability with or without dysmorphism|MCA/MR											UMLS:CN228396|Orphanet:102283																		owl:Class
MONDO:0011946	biolink:NamedThing	diaphanospondylodysostosis	Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.	mondoexuq1wtf	diaphanospondylodysostosis|vertebral ossification, defect in, with nephrogenic rests											OMIM:608022|ICD10:Q78.8|UMLS:C1842691|Orphanet:66637|SCTID:721094006|MESH:C564305																		owl:Class
MONDO:0018454	biolink:NamedThing	dysostosis of genetic origin	An instance of dysostosis that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic dysostosis											Orphanet:404568																		owl:Class
MONDO:0008903	biolink:NamedThing	lung cancer	A malignant neoplasm involving the lung.	mondoexuq1wtf	malignant lung tumor|alveolar cell carcinoma|Nonsmall cell lung cancer|malignant neoplasm of the lung|malignant lung neoplasm|malignant neoplasm of lung|lung neoplasm|cancer of lung|lung cancer, protection against|lung cancer|malignant tumor of the lung|malignant tumor of lung											DOID:1324|ICD10:C34.3|NCIT:C7377|ICD10:C34.2|ICD9:162.8|ICD9:162.4|ICD10:C34.1|ICD9:162.3|OMIM:211980|ICD9:162.5|ICD9:162.9|SCTID:363358000																		owl:Class
MONDO:0003274	biolink:NamedThing	thoracic cancer	A primary or metastatic malignant neoplasm affecting the tissues of the thorax.	mondoexuq1wtf	malignant neoplasm of the thorax|thorax neoplasm|cancer of thoracic segment of trunk|malignant thoracic neoplasm|thoracic tumor|malignant neoplasm of thorax|malignant neoplasm of thoracic segment of trunk|malignant tumor of thorax|tumor of thorax|thorax cancer|malignant tumor of the thorax|malignant thoracic tumor|thoracic segment of trunk cancer|malignant thoracic segment of trunk neoplasm											UMLS:C0153661|NCIT:C3576|ICD9:195.1|SCTID:188361007|ICD10:C76.1|DOID:5093																		owl:Class
MONDO:0008097	biolink:NamedThing	linear nevus sebaceus syndrome	Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).	mondoexuq1wtf	Nevus sebaceus of Jadassohn|JNP|organoid nevus syndrome|sebaceous nevus syndrome linear|Solomon syndrome|Schimmelpenning syndrome|sebaceous Nevus syndrome, linear|organoid Nevus|Sfm syndrome|linear nevus sebaceous syndrome|Epidermal Nevus syndrome, formerly|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|Nevus sebaceous of Jadassohn|linear sebaceous Nevus syndrome|epidermal nevus syndrome|SFM|organoid nevus phakomatosis|organoid Nevus phakomatosis|Jadassohn nevus phakomatosis|SFM syndrome|Jadassohn Nevus phakomatosis|linear sebaceous Nevus|Schimmelpenning Feuerstein Mims syndrome|Nevus sebaceus syndrome											OMIM:163200|Orphanet:2612|DOID:0111530|ICD10:Q85.8|GARD:0010291|NCIT:C4678														https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome				owl:Class
MONDO:0020063	biolink:NamedThing	malformation syndrome with hamartosis		mondoexuq1wtf	Dysmorphologic diseases with phakomatosis											UMLS:CN206967|Orphanet:98196																		owl:Class
MONDO:0003328	biolink:NamedThing	fallopian tube adenomatoid tumor	A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.	mondoexuq1wtf	fallopian tube adenomatoid tumor											DOID:5196|UMLS:C1517110|NCIT:C40129																		owl:Class
MONDO:0002373	biolink:NamedThing	benign mesothelioma	A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.	mondoexuq1wtf	benign tumor of mesothelial tissue|benign tumor of mesothelium|mesothelioma, benign											ICD10:C45.9|ICD9:215.9|UMLS:C0348424|SCTID:254825007|DOID:2645|ICD10:C45																		owl:Class
MONDO:0004858	biolink:NamedThing	occlusion of gallbladder	Blockage of the normal flow of the contents of the gallbladder.	mondoexuq1wtf	obstruction of gallbladder											ICD10:K82.0|DOID:9714|UMLS:C0156214|SCTID:197416005|COHD:192363|ICD9:575.2																		owl:Class
MONDO:0005281	biolink:NamedThing	gallbladder disease	A disease involving the gall bladder.	mondoexuq1wtf	disease of gall bladder|disease or disorder of gall bladder|disorder of gall bladder|gall bladder disease or disorder|gall bladder disease|gallbladder disorder|Gall bladder disorder											DOID:0060262|EFO:0003832|ICD9:575.8|SCTID:39621005|MESH:D005705|NCIT:C34631|ICD10:K82|ICD9:575.9|ICD10:K82.9|UMLS:C0016977|OMIMPS:600803																		owl:Class
MONDO:0013400	biolink:NamedThing	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.	mondoexuq1wtf	p450scc deficiency|XY sex reversal-adrenal failure|cholesterol side-chain Cleavage deficiency|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|XY sex reversal-adrenal failure syndrome|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome											Orphanet:168558|NCIT:C131422|ICD10:Q56.1|DOID:0050546|MESH:C566130|UMLS:C3151055|OMIM:613743																		owl:Class
MONDO:0002525	biolink:NamedThing	inherited lipid metabolism disorder	An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.	mondoexuq1wtf	disorder of lipid metabolism|fatty acid metabolism disorder|dyslipidemia|lipid metabolism disorder											DOID:3146|Orphanet:309005|ICD9:272.9|ICD9:272.8|MedDRA:10061227|UMLS:C0154251|SCTID:267431006|NCIT:C97092																		owl:Class
MONDO:0013298	biolink:NamedThing	chromosome 17q21.31 duplication syndrome	The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.	mondoexuq1wtf	trisomy 17q21.31|dup(17)(q21.31)|chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome											ICD10:Q92.3|OMIM:613533|UMLS:C3150787|DOID:0060434|UMLS:C4274345|SCTID:716683005|Orphanet:217340																		owl:Class
MONDO:0015474	biolink:NamedThing	cryptosporidiosis	Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.	mondoexuq1wtf	Cryptosporidium caused disease or disorder|Cryptosporidial gastroenteritis|Cryptosporidium infectious disease|intestinal cryptosporidiosis|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium disease or disorder|Cryptosporidium infection											DOID:1733|MESH:D003457|NCIT:C128408|GARD:0006219|MedDRA:10011502|UMLS:C0520796|SCTID:66160001|UMLS:C0010418|ICD9:007.4|ICD10:A07.2|COHD:194265|Orphanet:1549														https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis				owl:Class
MONDO:0005707	biolink:NamedThing	coccidiosis	A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.	mondoexuq1wtf	coccidiosis (& [intestinal])|intestinal coccidiosis											DOID:2113|NCIT:C34493|MESH:D003048|SCTID:62005008|COHD:433401|UMLS:C0009187|EFO:0007212|ICD9:007.2																		owl:Class
MONDO:0005722	biolink:NamedThing	croup	Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.	mondoexuq1wtf	acute laryngotracheitis|croup syndrome|acute laryngotracheobronchitis|acute obstructive laryngitis											COHD:260134|DOID:9395|ICD9:464.4|EFO:0007227|UMLS:C0010380|NCIT:C26735|ICD10:J05.0|MESH:D003440|SCTID:71186008																		owl:Class
MONDO:0000263	biolink:NamedThing	laryngotracheitis	An inflammation of both larynx and trachea.	mondoexuq1wtf												ICD9:464|SCTID:55130001|ICD10:J37.1|ICD9:464.2|ICD9:476.1|UMLS:C0023076|ICD10:J04|ICD10:J04.2|DOID:0050148																		owl:Class
MONDO:0001382	biolink:NamedThing	hepatorenal syndrome	Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.	mondoexuq1wtf	hepato-renal syndrome											GARD:0006610|SCTID:51292008|ICD10:K76.7|MESH:D006530|COHD:196455|ICD9:572.4|DOID:11823|NCIT:C113400|UMLS:C0019212														https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome				owl:Class
MONDO:0005154	biolink:NamedThing	liver disease	A disease involving the liver.	mondoexuq1wtf	disease of liver|liver and intrahepatic bile duct disorder|liver disorder|disorder of liver|liver disease|hepatic disease|liver disease or disorder|hepatic disorder|disease or disorder of liver											NCIT:C3196|UMLS:C0023895|COHD:194984|EFO:0001421|MESH:D008107|ICD10:K76.9|ICD9:573.9|DOID:409|ICD9:573.8|ICD10:K70-K77|SCTID:235856003																		owl:Class
MONDO:0008923	biolink:NamedThing	autosomal recessive palmoplantar keratoderma and congenital alopecia	Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	mondoexuq1wtf	cataract, alopecia, sclerodactyly syndrome|palmoplantar keratoderma and congenital alopecia 2|PPKCA2|Ppkca, Wallis type|cataract-alopecia-sclerodactyly syndrome|cataract, alopecia, sclerodactyly|palmoplantar keratoderma and congenital alopecia type 2|PPK-CA, Wallis type|autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|palmoplantar keratoderma and congenital alopecia, Wallis type|cass											MESH:C535336|GARD:0001139|ICD10:Q82.8|OMIM:212360|UMLS:C1859316|ICD10:Q84.0|DOID:0111245|Orphanet:1366														https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia				owl:Class
MONDO:0017666	biolink:NamedThing	diffuse palmoplantar keratoderma		mondoexuq1wtf	diffuse palmoplantar hyperkeratosis|diffuse PPK|diffuse keratosis palmoplantaris											Orphanet:307141|ICD9:757.39|UMLS:C0022584|ICD10:Q82.8|SCTID:400123002|HP:0007435																		owl:Class
MONDO:0004763	biolink:NamedThing	carotid artery dissection	Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.	mondoexuq1wtf	dissection of carotid artery											SCTID:720626009|DOID:9348|ICD9:443.21|NCIT:C125662|ICD10:I77.71|UMLS:C0338585																		owl:Class
MONDO:0005269	biolink:NamedThing	carotid artery disease	A disease involving the carotid artery segment.	mondoexuq1wtf	carotid artery segment disease or disorder|carotid artery disorder|disorder of carotid artery segment|disorder of carotid artery|disease of carotid artery segment|disease or disorder of carotid artery segment|carotid artery segment disease											NCIT:C84476|EFO:0003781|DOID:3407|ICD9:447.9|SCTID:371160000|UMLS:C0007273|MESH:D002340																		owl:Class
MONDO:0009026	biolink:NamedThing	Costello syndrome	Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.	mondoexuq1wtf	FCS syndrome|Costello syndrome|CSTLO|faciocutaneoskeletal syndrome|myopathy, congenital, with excess of muscle spindles											DOID:0050469|NCIT:C84652|GARD:0001550|SCTID:309776008|OMIM:218040|UMLS:C0587248|ICD9:799.89|ICD10:Q87.8|MedDRA:10067380|MESH:D056685|Orphanet:3071														https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome				owl:Class
MONDO:0007345	biolink:NamedThing	aorta coarctation	Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.	mondoexuq1wtf	coarctation of the aorta|coarctation of aorta|aortic coarctation											MedDRA:10009807|ICD10:Q25.1|COHD:321119|EFO:1001267|MESH:D001017|NCIT:C84567|ICD9:747.10|OMIM:120000|UMLS:C0003492|Orphanet:1457|SCTID:7305005|GARD:0005828																		owl:Class
MONDO:0016229	biolink:NamedThing	genetic vascular anomaly	An instance of vascular anomaly that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic vascular anomaly											Orphanet:211240																		owl:Class
MONDO:0005271	biolink:NamedThing	allergic disease	An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.	mondoexuq1wtf	hypersensitivity reaction type I disease|allergic form of immune system disease|allergy|allergic form of disease or disorder|allergic reaction|allergic response|allergic disease or disorder|disorder of type I hypersensitivity|allergic hypersensitivity disease|hypersensitivity|type I hypersensitivity disease											ICD10:T78.40|SCTID:609328004|UMLS:C1527304|MESH:D006967|DOID:1205|EFO:0003785|ICD9:995.3|ICD9:V15.09|NCIT:C114476																		owl:Class
MONDO:0000605	biolink:NamedThing	hypersensitivity reaction disease	An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.	mondoexuq1wtf	hypersensitivity reaction|hypersensitivity|hypersensitive|sensitive|allergic reaction|sensitivity											EFO:1002003|NCIT:C3114|SCTID:473010000|DOID:0060056																		owl:Class
MONDO:0006277	biolink:NamedThing	lung lymphangioleiomyomatosis	Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.	mondoexuq1wtf	lymphangioleiomyomatosis|pulmonary lymphangiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lung lymphangiomyomatosis											GARD:0003319|MESH:D018192|ICD10:D48.7|Orphanet:538|OMIM:606690|MedDRA:10049459|ICD9:518.89|SCTID:277844007|EFO:1000334|NCIT:C38153|COHD:4174275|DOID:3319|ONCOTREE:LAM																		owl:Class
MONDO:0020588	biolink:NamedThing	lung PEComa	A lung tumor that arises from perivascular epithelioid cells (PECs).	mondoexuq1wtf	lung PEComa|lung pecomatous tumor											NCIT:C142783																		owl:Class
MONDO:0019609	biolink:NamedThing	Zellweger spectrum disorders	Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.	mondoexuq1wtf	Zellweger syndrome|cerebrohepatorenal syndrome|congenital iron overload|Zellweger leukodystrophy|ZWS|ZS|Zellweger spectrum disorders					Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61						GARD:0007917|ICD10:Q87.8|DOID:905|MESH:D015211|SCTID:88469006|Orphanet:912|NCIT:C85239|UMLS:C0043459|ICD10:E71.510														https://github.com/monarch-initiative/mondo/issues/2632|https://github.com/monarch-initiative/mondo/pull/2571/				owl:Class
MONDO:0020227	biolink:NamedThing	systemic disease with cataract		mondoexuq1wtf												Orphanet:98643|UMLS:C0339369																		owl:Class
MONDO:0009695	biolink:NamedThing	myeloproliferative disease, autosomal recessive		mondoexuq1wtf	myeloproliferative disease, autosomal recessive											OMIM:254700|UMLS:C1850779|MESH:C564977																		owl:Class
MONDO:0020076	biolink:NamedThing	myeloproliferative neoplasm	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)	mondoexuq1wtf	myeloproliferative neoplasm, chronic|CMPD|myeloproliferative neoplasm|chronic myeloproliferative disorders|MPD|chronic myeloproliferative disease|CMPD, U|chronic myeloproliferative neoplasm|myeloproliferative tumor|MPN|myeloproliferative disorder|myeloproliferative neoplasms|chronic myeloproliferative disorder											DOID:2226|UMLS:C1292778|NCIT:C4345|ICD9:238.79|ICD10:D47.1|ONCOTREE:MPN|SCTID:425333006|Orphanet:98274|MedDRA:10028576|GARD:0009319|EFO:0004251|ICDO:9960/3|EFO:0002428|ICDO:9975/1																		owl:Class
MONDO:0015012	biolink:NamedThing	mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		mondoexuq1wtf	mucopolysaccharidosis-plus syndrome|MPSPS|mucopolysaccharidosis-like plus disease											UMLS:C4310627|Orphanet:505248|OMIM:617303																		owl:Class
MONDO:0009222	biolink:NamedThing	Gollop-Wolfgang complex	Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.	mondoexuq1wtf	bifid femur-monodactylous ectrodactyly syndrome|Gollop-Wolfgang complex|femur, unilateral bifid, with monodactylous ectrodactyly|femur bifid with monodactylous ectrodactyly|GWC											MESH:C537917|UMLS:C1856789|Orphanet:1986|OMIM:228250|GARD:0002285|SCTID:716006003|ICD10:Q74.8																		owl:Class
MONDO:0017434	biolink:NamedThing	syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy		mondoexuq1wtf												Orphanet:294959|UMLS:CN203181																		owl:Class
MONDO:0018760	biolink:NamedThing	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome		mondoexuq1wtf												Orphanet:466943|UMLS:CN242159																		owl:Class
MONDO:0017184	biolink:NamedThing	autosomal dominant hyperinsulinism due to SUR1 deficiency	Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).	mondoexuq1wtf	autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency											UMLS:CN202625|SCTID:717046003|ICD10:E16.1|Orphanet:276575|UMLS:C4274080																		owl:Class
MONDO:0005803	biolink:NamedThing	hyperinsulinemic hypoglycemia	An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.	mondoexuq1wtf	hyperinsulinemic hypoglycemia|nesidioblastosis|persistent hyperinsulinemia hypoglycemia of infancy|islet cell hyperplasia|hyperinsulinemic hypoglycemia (disease)		hyperinsulinemic hypoglycemia (disease)									ICD10:E16.9|HP:0000825|DOID:13317|EFO:0007318|SCTID:42681006																		owl:Class
MONDO:0011739	biolink:NamedThing	pancreatic cancer, susceptibility to, 1	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.	mondoexuq1wtf	pancreatic cancer, susceptibility to, type 1|susceptibility to pancreatic cancer 1|Pnca1|pancreatic cancer, susceptibility to, 1|familial pancreatic carcinoma caused by mutation in PALLD|PALLD familial pancreatic carcinoma											OMIM:606856																		owl:Class
MONDO:0020573	biolink:NamedThing	inherited disease susceptibility	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	mondoexuq1wtf	genetic susceptibilities|genetic predisposition|predispositions, genetic|predisposition, genetic|genetic predispositions|genetic susceptibility|susceptibilities, genetic|susceptibility, genetic|hereditary predisposition to disease|hereditary disease susceptibility							cjm	2017-09-30T12:01:25Z			MESH:D020022																		owl:Class
MONDO:0004795	biolink:NamedThing	otitis externa	Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.	mondoexuq1wtf	otitis externa|external Ear infection|swimmer's Ear|outer Ear infection|swimmer's ear|infectious otitis externa											DOID:9463|COHD:380731|NCIT:C3299|ICD9:380.1|ICD9:380.10|MESH:D010032|SCTID:3135009|ICD10:H60																		owl:Class
MONDO:0021666	biolink:NamedThing	ear infection	A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.	mondoexuq1wtf	Ear infection|otitis											NCIT:C27193|MESH:D010031|UMLS:C0699744																		owl:Class
MONDO:0007925	biolink:NamedThing	chromosome 5q deletion syndrome	A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)	mondoexuq1wtf	5q- syndrome|megakaryocytes, unilobular nucleated|5Q- syndrome|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|refractory macrocytic anemia due to 5q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5q syndrome|myelodysplastic syndrome with isolated del(5q)|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|MAR|5Q minus syndrome|macrocytic Anemia, refractory, due to 5Q deletion|chromosome 5q deletion syndrome											DOID:0090016|GARD:0008723|UMLS:CN206233|Orphanet:86841|MESH:C535323|SCTID:277597005|OMIM:153550|ICDO:9986/3|NCIT:C6867|ICD10:D46.7|COHD:136950																		owl:Class
MONDO:0018881	biolink:NamedThing	myelodysplastic syndrome	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)	mondoexuq1wtf	myelodysplastic syndrome, susceptibility to|myelodysplasia|myelodysplastic syndrome/neoplasm|dysmyelopoietic syndrome|smoldering leukemia|oligoblastic leukemia|hematopoeitic - myelodysplastic syndrome (MDS)|preleukemia|MDS|myelodysplastic neoplasm|myelodysplastic syndromes|myelodysplastic syndrome											DOID:0050908|Orphanet:52688|GARD:0007132|SCTID:109995007|EFO:0000198|UMLS:C3463824|NCIT:C3247|OMIM:614286|ICD9:238.75|ONCOTREE:MDS|MedDRA:10028532|ICD9:238.7|UMLS:C0033027|COHD:138994|ICDO:9989/3																		owl:Class
MONDO:0011000	biolink:NamedThing	guanylate cyclase 2E		mondoexuq1wtf	Gucy2D, mouse, homolog of|GC-E|GUCY2E|GUCY2EP|guanylyl cyclase, Membrane, type E|guanylate cyclase 2E, pseudogene|guanylate cyclase type 2E|guanylate cyclase 2E											OMIM:601138																		owl:Class
MONDO:0016459	biolink:NamedThing	2q23.1 microdeletion syndrome	The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	mondoexuq1wtf	Del(2)(q23.1)|pseudo-Angelman syndrome|chromosome 2q23.1 microdeletion syndrome|monosomy 2q23.1					Editor note: TODO check ORDO xref to OMIM						Orphanet:228402|ICD10:Q93.5|GARD:0010998|SCTID:719657001														https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome				owl:Class
MONDO:0008237	biolink:NamedThing	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.	mondoexuq1wtf	Stoll-Lévy-Francfort syndrome|phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|facioauriculoradial dysplasia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-levy-Francfort syndrome											MESH:C537498|OMIM:171480|GARD:0004323|UMLS:C1868390|Orphanet:2878|ICD10:Q87.2																		owl:Class
MONDO:0044689	biolink:NamedThing	recurrent idiopathic neuroretinitis		mondoexuq1wtf	RINR											Orphanet:499103																		owl:Class
MONDO:0700007	biolink:NamedThing	idiopathic disease	A disease or disorder for which the cause is of uncertain or unknown.	mondoexuq1wtf	idiopathic disorder							http://orcid.org/0000-0002-4142-7153																		https://github.com/monarch-initiative/mondo/issues/3169				owl:Class
MONDO:0017749	biolink:NamedThing	disorder of multiple glycosylation		mondoexuq1wtf												Orphanet:309526|UMLS:CN227195|ICD10:E77.8																		owl:Class
MONDO:0015286	biolink:NamedThing	congenital disorder of glycosylation	Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes|carbohydrate-deficient glycoprotein syndrome|CDG											NCIT:C84615|SCTID:238049009|UMLS:C0282577|ICD9:271.8|ICD10:E77.8|MESH:D018981|OMIMPS:212065|GARD:0010307|Orphanet:137|DOID:5212																		owl:Class
MONDO:0006456	biolink:NamedThing	thymoma	A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.	mondoexuq1wtf	primary thymic epithelial neoplasm|THYM|primary thymic epithelial tumor|thymoma (disease)|thymoma		thymoma (disease)									ICD9:239.89|MedDRA:10043670|HP:0100522|Orphanet:99867|ONCOTREE:THYM|ICD10:D15.0|ICDO:8580/1|UMLS:C0040100|EFO:1000581|ICD10:D38.4|SCTID:444231005|DOID:3275|NCIT:C3411																		owl:Class
MONDO:0018079	biolink:NamedThing	thymic epithelial neoplasm	An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.	mondoexuq1wtf	epithelial neoplasm of the Thymus|thymic epithelial tumor|TEN|Tet|thymic epithelium neoplasm|Thymus epithelial tumor|Thymus epithelial neoplasm|epithelial tumor of Thymus|thymoma, adult|epithelial tumor of the Thymus|epithelial neoplasm of Thymus|thymus epithelial neoplasm											UMLS:C1266101|MESH:C536905|ONCOTREE:TET|GARD:0005201|ICD10:C37|NCIT:C6450|ICD10:D15.0|Orphanet:3398																		owl:Class
MONDO:0003349	biolink:NamedThing	central nervous system leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	CNS leiomyosarcoma|leiomyosarcoma of the CNS|leiomyosarcoma of central nervous system|leiomyosarcoma of CNS|leiomyosarcoma of the central nervous system|central nervous system leiomyosarcoma											DOID:5254|UMLS:C1334385|NCIT:C6999																		owl:Class
MONDO:0005058	biolink:NamedThing	leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.	mondoexuq1wtf	leiomyosarcoma - not uterine|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma|Leiomyosarcomas|leiomyosarcoma, malignant											UMLS:C0023269|GARD:0006880|MESH:D007890|ICD10:C49.9|Orphanet:64720|ICDO:8890/3|EFO:0000564|SCTID:443719001|DOID:1967|MedDRA:10024189|NCIT:C3158|ONCOTREE:LMS|ICD9:171.9														https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma				owl:Class
MONDO:0008875	biolink:NamedThing	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.	mondoexuq1wtf	Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome											MESH:C536235|SCTID:717914000|OMIM:210745|Orphanet:2057|ICD10:Q87.8|GARD:0000905																		owl:Class
MONDO:0043008	biolink:NamedThing	genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic MCA|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)											Orphanet:330206																		owl:Class
MONDO:0015776	biolink:NamedThing	rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.	mondoexuq1wtf	rhizomelic dwarfism|rhizomelic chondrodysplasia punctata syndrome|chondrodysplasia punctata, rhizomelic form|RCDP											ICD10:E71.540|ICD10:Q77.3|OMIMPS:215100|GARD:0013160|NCIT:C85047|Orphanet:177|MESH:D018902|UMLS:C0282529|DOID:2580|SCTID:56692003														https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata				owl:Class
MONDO:0020232	biolink:NamedThing	musculoskeletal disease with cataract		mondoexuq1wtf												Orphanet:98648|UMLS:CN207060																		owl:Class
MONDO:0018316	biolink:NamedThing	fatal post-viral neurodegenerative disorder		mondoexuq1wtf												ICD10:G04.8|UMLS:CN204961|Orphanet:391343																		owl:Class
MONDO:0015144	biolink:NamedThing	brain inflammatory disease	An inflammatory disease involving a pathogenic inflammatory response in the brain.	mondoexuq1wtf	inflammation of brain|brain inflammation											UMLS:CN197488|Orphanet:102005																		owl:Class
MONDO:0010668	biolink:NamedThing	skeletal dysplasia-intellectual disability syndrome	Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.	mondoexuq1wtf	intellectual disability, skeletal dysplasia, and abducens palsy|mental retardation skeletal dysplasia abducens palsy|MRSD|intellectual disability skeletal dysplasia abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|Christian syndrome											UMLS:C1839729|ICD10:Q87.5|Orphanet:1436|SCTID:722478008|MESH:C564101|OMIM:309620|GARD:0003520														https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy				owl:Class
MONDO:0010018	biolink:NamedThing	second metatarsal-metacarpal syndrome		mondoexuq1wtf	second metatarsal-metacarpal syndrome											MESH:C564824|OMIM:269630|UMLS:C1849259																		owl:Class
MONDO:0011191	biolink:NamedThing	capillary infantile hemangioma		mondoexuq1wtf	HCI|hemangioma, hereditary capillary|hemangioma, capillary infantile					Editor note: consider merging or making class explicitly for inherited forms. Note also Orphanet equiv is obsolete						UMLS:C1865871|MESH:C535860|OMIM:602089|Orphanet:91415																		owl:Class
MONDO:0006500	biolink:NamedThing	hemangioma	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.	mondoexuq1wtf	angioma|hemangioma, benign|benign hemangioma|hemangioma|benign angioma											COHD:441818|ICD10:D18.00|ICD9:228.09|SCTID:400210000|NCIT:C3085|ICD9:228.00|MESH:D006391|EFO:1000635|ICD9:228.0|DOID:255|UMLS:C0018916|ONCOTREE:HEMA|ICDO:9120/0|HP:0001028|GARD:0010759|ICD10:D18.0																		owl:Class
MONDO:0003695	biolink:NamedThing	ovarian clear cell adenofibroma	An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.	mondoexuq1wtf	clear cell adenofibroma of ovary|ovary clear cell adenofibroma|ovarian clear cell adenofibroma											NCIT:C40085|DOID:5897|UMLS:C1518694																		owl:Class
MONDO:0000646	biolink:NamedThing	ovarian benign neoplasm	A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.	mondoexuq1wtf	benign neoplasm of the ovary|benign neoplasm of ovary|benign ovarian neoplasm|ovary benign neoplasm|benign ovarian tumor|benign tumor of the ovary|benign tumor of ovary											SCTID:92260003|COHD:199764|NCIT:C2895|EFO:1000116|DOID:0060112																		owl:Class
MONDO:0000836	biolink:NamedThing	disease of bone structure		mondoexuq1wtf	bone structure disease											DOID:0080010																		owl:Class
MONDO:0005381	biolink:NamedThing	bone disease	Diseases of bones.	mondoexuq1wtf	bone element disease or disorder|disorder of bone element|bone element disease|disease or disorder of bone element|rare bone disease related to a common gene or pathway defect|skeletal disease|disease of bone element											Orphanet:364803|ICD9:731.8|SCTID:76069003|MESH:D001847|EFO:0004260|ICD10:M89.9|UMLS:C0005940|ICD9:733.99|UMLS:CN204768|DOID:0080001																		owl:Class
MONDO:0011694	biolink:NamedThing	spinocerebellar ataxia type 15/16	Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.	mondoexuq1wtf	spinocerebellar ataxia 15|spinocerebellar ataxia 16, formerly|spinocerebellar ataxia type 15|spinocerebellar ataxia type 15/16|spinocerebellar ataxia 16|SCA15/16|SCA15|spinocerebellar ataxia 16 (formerly)|SCA16 (formerly)					In orphanet, SCA16 is obsoleted in favor of 15/16						SCTID:716724006|DOID:0050965|MESH:C564685|OMIM:606658|GARD:0010477|ICD10:G11.2|Orphanet:98769|UMLS:C1847725|UMLS:C4274322																		owl:Class
MONDO:0019792	biolink:NamedThing	autosomal dominant cerebellar ataxia type I	Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	mondoexuq1wtf	cerebellar plus syndrome|ADCAI|ADCA1|autosomal dominant cerebellar ataxia type 1											ICD10:G11.8|UMLS:CN206744|Orphanet:94145																		owl:Class
MONDO:0010383	biolink:NamedThing	fragile X syndrome	A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.	mondoexuq1wtf	X-linked intellectual disability and macroorchidism|fragile 10 mental retardation syndrome|FraX syndrome|fra(X) syndrome|fragile 10 syndrome|intellectual disability, X-linked, associated with Marxq28|Martin-Bell syndrome|fragile 10 intellectual disability syndrome|mental retardation, X-linked, associated with Marxq28|marker 10 syndrome|primary ovarian insufficiency, fragile X-associated|X-linked mental retardation and macroorchidism|FRAXA syndrome|fragile X intellectual disability syndrome|fragile X mental retardation syndrome|FXS|fragile 10 premature ovarian failure|fragile X syndrome|marker X syndrome											SCTID:613003|ICD10:Q99.2|GARD:0006464|OMIM:300624|MedDRA:10017324|NCIT:C84717|Orphanet:908|UMLS:C0016667|ICD9:759.83|COHD:436803|DOID:14261|MESH:D005600																		owl:Class
MONDO:0043005	biolink:NamedThing	genetic multiple congenital anomalies/dysmorphic syndrome	An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary multiple congenital anomalies/dysmorphic syndrome											Orphanet:183533																		owl:Class
MONDO:0004245	biolink:NamedThing	ependymal tumor of brain	A tumor arising from the ependymal lining of the ventricles.	mondoexuq1wtf	brain ependymoma|ependymoma of brain|ependymal tumor of brain|brain ependymal tumor											UMLS:C0238029|NCIT:C3861|DOID:7497|SCTID:254939008																		owl:Class
MONDO:0005499	biolink:NamedThing	brain glioma	A malignant glioma that involves the brain.	mondoexuq1wtf	brain malignant glioma|malignant glioma of brain											SCTID:254937005|EFO:0005543|DOID:0060108|UMLS:C0349661																		owl:Class
MONDO:0016603	biolink:NamedThing	citrullinemia type II	Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.	mondoexuq1wtf	citrullinemia type II|adult-onset type 2 citrullinemia|adult-onset type II citrullinemia|CTLN2|adult-onset citrin deficiency|citrullinemia type 2											Orphanet:247585|SCTID:716863007|NCIT:C150603|ICD10:E72.2																		owl:Class
MONDO:0016602	biolink:NamedThing	citrin deficiency	Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).	mondoexuq1wtf												Orphanet:247582|UMLS:C1997910|SCTID:429735007|ICD10:E72.2																		owl:Class
MONDO:0016713	biolink:NamedThing	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.	mondoexuq1wtf	CNS PNET|central nervous system primitive neuroectodermal tumor|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor|central nervous system PNET					Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma						MedDRA:10057846|Orphanet:251870|NCIT:C129537																		owl:Class
MONDO:0016708	biolink:NamedThing	embryonal tumor of neuroepithelial tissue		mondoexuq1wtf												UMLS:CN201955|Orphanet:251852																		owl:Class
MONDO:0012127	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2J	Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	mondoexuq1wtf	limb-girdle muscular dystrophy type 2J|TTN autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|muscular dystrophy, limb-girdle, type 2J|LGMD2J											OMIM:608807|UMLS:C1837342|ICD10:G71.0|MESH:C563854|DOID:0110283|Orphanet:140922|GARD:0012534																		owl:Class
MONDO:0001129	biolink:NamedThing	nasal cavity olfactory neuroblastoma	An olfactory neuroblastoma arising in the nasal cavity.	mondoexuq1wtf	olfactory neuroblastoma of nasal cavity|nasal cavity olfactory neuroblastoma|olfactory neuroblastoma of the nasal cavity											NCIT:C7604|UMLS:C1334923|DOID:10812																		owl:Class
MONDO:0006329	biolink:NamedThing	olfactory neuroblastoma	An olfactory neuroblastoma arising in the paranasal sinus.	mondoexuq1wtf	Asthesioneuroblastoma (morphologic abnormality)|olfactory neuroblastoma|Esthesioneuroepithelioma (morphologic abnormality)|paranasal sinus olfactory neuroblastoma|olfactory esthesioneuroblastoma|Esthesioneuroepithelioma|olfactory neuroepithelioma|esthesioneuroblastoma|Esthesioneuroepithelioma [dup] (morphologic abnormality)|Asthesioneuroblastoma|esthesioneuroblastoma (morphologic abnormality)											DOID:369|ICDO:9523/3|ONCOTREE:ONBL|EFO:1000407|NCIT:C3789|ICDO:9522/3																		owl:Class
MONDO:0016642	biolink:NamedThing	meningioma	A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)	mondoexuq1wtf	primary meningeal tumor|meningeal neoplasm|meningothelial cell tumor|intracranial meningioma|supratentorial meningioma|meningioma|meningioma (disease)		meningioma (disease)									ICD10:D32.9|NCIT:C3230|UMLS:C0025286|MESH:D008579|ICDO:9530/0|GARD:0007015|HP:0002858|Orphanet:2495|MedDRA:10027191|SCTID:302820008|DOID:3565|ONCOTREE:MNG																		owl:Class
MONDO:0016743	biolink:NamedThing	tumor of meninges	A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.	mondoexuq1wtf	meningeal cluster neoplasm|meninges tumor|neoplasm of meninges|neoplasm of meningeal cluster|meningeal neoplasm|meningeal cluster rare nervous system tumor|meningeal cluster neoplasm (disease)|meningeal cluster tumor|tumor of meningeal cluster|neoplasm of the meninges|tumor of meninges|meninges neoplasm|tumor of the meninges|meningeal neoplasms|meningothelial tumor|meningeal tumor											Orphanet:252025|MedDRA:10061282|SCTID:126965008|ONCOTREE:MNGT|UMLS:C0025284|ICD9:239.7|NCIT:C3229																		owl:Class
MONDO:0012620	biolink:NamedThing	prostate cancer, hereditary, 10		mondoexuq1wtf	HPC10|prostate cancer, hereditary, 10											OMIM:611100|MESH:C567011|UMLS:C1970192																		owl:Class
MONDO:0023122	biolink:NamedThing	familial prostate carcinoma	Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.	mondoexuq1wtf	hereditary prostate cancer|prostate cancer, familial|familial prostate cancer|prostate cancer, hereditary|hereditary prostate carcinoma					Editor note: check OMIM						GARD:0004520|OMIM:176807|Orphanet:1331|SCTID:715412008|UMLS:C2931456|UMLS:CN036094|GTR:AN0101368|GTR:AN0101369|NCIT:C103817														https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer				owl:Class
MONDO:0008909	biolink:NamedThing	congenital disorder of glycosylation, type i/IIx		mondoexuq1wtf	congenital disorder of glycosylation, type i/IIx|CDG X|congenital disorder of glycosylation type I/IIX|CDG-X											MESH:C562844|UMLS:C0349655|OMIM:212067|GARD:0009840														https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix				owl:Class
MONDO:0010994	biolink:NamedThing	micromelic dwarfism, Fryns type		mondoexuq1wtf	spondyloepimetaphyseal dysplasia micromelic|spondyloepimetaphyseal dysplasia, micromelic|dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|SEMD, micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects											SCTID:715479009|UMLS:C1832800|MESH:C537556|ICD10:Q77.8|OMIM:601096|Orphanet:2641|GARD:0003642																		owl:Class
MONDO:0016761	biolink:NamedThing	spondyloepiphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.	mondoexuq1wtf	SED and SEMD|spondylo-epi-(meta)-physeal dysplasia|spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia											ICD10:Q77.7|ICD9:756.9|SCTID:254062008|Orphanet:252|GARD:0007687|MedDRA:10062920|DOID:0080027|Orphanet:253																		owl:Class
MONDO:0100106	biolink:NamedThing	neonatal epileptic encephalopathy	A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0005579	biolink:NamedThing	epilepsy, idiopathic generalized	A chronic condition characterised by recurrent generalised seizures.	mondoexuq1wtf	EIG|idiopathic generalized epilepsy|epilepsy, idiopathic generalized|generalised epilepsy|generalized epilepsy											NCIT:C3021|OMIMPS:600669|EFO:0005917|MESH:D004829|SCTID:19598007|DOID:1827																		owl:Class
MONDO:0020738	biolink:NamedThing	multiple benign circumferential skin creases on limbs 1		mondoexuq1wtf	skin creases, congenital symmetric circumferential, 1|CSCSC1											OMIM:156610																		owl:Class
MONDO:0024255	biolink:NamedThing	genetic skin disease	An instance of skin disease that is caused by a modification of the individual's genome.	mondoexuq1wtf	genodermatosis|genetic skin disease|disease, genetic skin|genetic skin diseases|skin disease, genetic|diseases, genetic skin											SCTID:239001006|MESH:D012873																		owl:Class
MONDO:0005984	biolink:NamedThing	tinea pedis	Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.	mondoexuq1wtf	pes dermatophytosis|dermatophytosis of pes|ringworm of foot|dermatophytosis of foot|athlete's foot											ICD9:110.4|ICD10:B35.3|COHD:133141|DOID:12403|UMLS:C0040259|MESH:D014008|EFO:0007512|SCTID:6020002																		owl:Class
MONDO:0004678	biolink:NamedThing	dermatophytosis	A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.	mondoexuq1wtf	dermatomycosis|skin disease, fungal|ringworm|skin diseases, fungal|fungal skin diseases|fungal skin disease					Editor note: check cutaneous vs superficial						ICD9:110.9|ICD9:110|COHD:135473|UMLS:C0011636|NCIT:C26745|ICD9:110.8|DOID:8913|ICD10:B35|ICD10:B35.9|SCTID:47382004																		owl:Class
MONDO:0007886	biolink:NamedThing	uterine corpus leiomyoma	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	fibroid of corpus uteri|uterine leiomyoma|leiomyoma of the body of uterus|fibroid of the body of uterus|uterine corpus leiomyomata|body of uterus leiomyoma|leiomyoma of the uterine body|uterine body fibroid|uterine fibroid|fibroid of the uterine body|fibroid of the corpus uteri|leiomyoma, uterine|plexiform leiomyoma|leiomyoma of uterine body|uterine body leiomyoma|corpus uteri fibroid|fibroid of the uterine corpus|uterine corpus fibroid|uterus fibroma|leiomyoma of the uterine corpus|leiomyoma of the corpus uteri|leiomyoma of body of uterus|fibroid of uterine corpus|fibroid of uterine body|corpus uteri leiomyoma|leiomyoma of corpus uteri|UL|body of uterus fibroid|fibroid of body of uterus|leiomyoma of uterine corpus|uterine corpus leiomyoma											ICD9:218.9|OMIM:150699|HP:0000131|UMLS:C2242776|EFO:0000731|NCIT:C3434|UMLS:C0042133|DOID:13223|SCTID:95315005|ICD9:218|ICD10:D25.9|ICD10:D25|ONCOTREE:ULM|COHD:197236																		owl:Class
MONDO:0017127	biolink:NamedThing	inherited soft tissue tumor	An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary mesenchymal cell neoplasm|genetic soft tissue tumor|genetic mesenchymal tumor|genetic mesenchymal cell neoplasm											UMLS:CN202526|Orphanet:271832																		owl:Class
MONDO:0012118	biolink:NamedThing	COG7-CDG	COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.	mondoexuq1wtf	congenital disorder of glycosylation, type IIe|congenital disorder of glycosylation type 2e|CDG IIe|CDG2E|CDG-IIe|carbohydrate deficient glycoprotein syndrome type IIe|COG7-CDG (CDG-IIe)|CDG 2E|CDG syndrome type IIe|congenital disorder of glycosylation type IIe											GARD:0009842|MESH:C535754|OMIM:608779|Orphanet:79333|SCTID:717773005|ICD10:E77.8																		owl:Class
MONDO:0005501	biolink:NamedThing	congenital disorder of glycosylation type II	A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.	mondoexuq1wtf	B4GALT1-CDG (CDG-2d)|MGAT2-CDG (CDG-2a)|MGAT2-CDG|MOGS-CDG (CDG-2b)|MOGS-CDG|congenital disorders of glycosylation, type II|B4GALT1-CDG											MESH:C535747|OMIMPS:212066|EFO:0005546|DOID:0050571																		owl:Class
MONDO:0012788	biolink:NamedThing	coronary heart disease, susceptibility to, 9		mondoexuq1wtf	coronary heart disease, susceptibility to, 9|CHDS9											OMIM:612030																		owl:Class
MONDO:0005010	biolink:NamedThing	coronary artery disease	Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)	mondoexuq1wtf	CHD (coronary heart disease)|CAD|coronary arteriosclerosis|disease of coronary artery|coronary disease|disorder of coronary artery|coronary artery disease or disorder|CHD|coronary artery disease|disease or disorder of coronary artery|coronary heart disease											GARD:0011944|ICD9:410-414.99|ICD10:I25.10|ICD10:I25.9|MESH:D003324|UMLS:C1956346|ICD10:I25.1|ICD10:I20-I25|ICD9:414.0|COHD:317576|ICD10:K76.1|DOID:3393|EFO:0001645|ICD9:414.9|ICD10:I25|SCTID:414024009|NCIT:C26732																		owl:Class
MONDO:0013184	biolink:NamedThing	congenital diarrhea 5 with tufting enteropathy	Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.	mondoexuq1wtf	intestinal epithelial cell dysplasia|EPCAM secretory diarrhea|DIAR5|congenital tufting enteropathy|IED|secretory diarrhea caused by mutation in EPCAM|enteropathy, congenital tufting|diarrhea 5, with tufting enteropathy, congenital|congenital enteropathy|congenital familial intractable diarrhea with enterocytes assembly abnormalities|tufting enteropathy|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|intestinal epithelial dysplasia											UMLS:C4275062|SCTID:715669000|ICD10:P78.3|UMLS:C2750737|MESH:C567703|DOID:0060776|Orphanet:92050|OMIM:613217|GARD:0010630																		owl:Class
MONDO:0019126	biolink:NamedThing	intractable diarrhea of infancy	Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.	mondoexuq1wtf	IDI											Orphanet:73014																		owl:Class
MONDO:0006260	biolink:NamedThing	kidney medullary carcinoma	A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.	mondoexuq1wtf	carcinoma of renal medulla|renal medulla carcinoma|renal medullary carcinoma|kidney medullary carcinoma										MONDO:0017888	Orphanet:319319|UMLS:CN203938|EFO:1000314|ICD10:C64|NCIT:C7572|GARD:0013175|MedDRA:10064886|ONCOTREE:MRC																		owl:Class
MONDO:0005086	biolink:NamedThing	renal cell carcinoma	A carcinoma that arises from glandular epithelial cells of the kidney	mondoexuq1wtf	renal cell carcinoma|RCC|renal cell carcinoma (disease)|hypernephroma|kidney adenocarcinoma|renal cell adenocarcinoma		renal cell carcinoma (disease)									SCTID:702391001|GARD:0013215|MedDRA:10067946|DOID:4450|Orphanet:217071|MESH:D002292|HP:0005584|EFO:0000681|ICD9:189.0|ONCOTREE:RCC																		owl:Class
MONDO:0017021	biolink:NamedThing	secondary interstitial lung disease specific to childhood associated with a connective tissue disease		mondoexuq1wtf	secondary ILD specific to childhood associated with a connective tissue disease											Orphanet:264704|UMLS:CN202334																		owl:Class
MONDO:0017020	biolink:NamedThing	secondary interstitial lung disease specific to childhood associated with a systemic disease		mondoexuq1wtf	secondary ILD specific to childhood associated with a systemic disease											UMLS:CN202333|Orphanet:264699																		owl:Class
MONDO:0021249	biolink:NamedThing	lip neoplasm	A neoplasm (disease) that involves the lip.	mondoexuq1wtf	tumor of the Lip|neoplasm of Lip|lip neoplasm (disease)|tumor of lip|tumor of Lip|neoplasm of lip|lip neoplasms|lip tumor|neoplasm of the Lip											SCTID:126770008|NCIT:C3191																		owl:Class
MONDO:0004748	biolink:NamedThing	lip disease	A disease involving the lip.	mondoexuq1wtf	lip disease or disorder|disease of lips|lip disease|disorder of lip|lip disorder|disease of lip|disease or disorder of lip											MESH:D008047|NCIT:C26818|ICD9:528.5|ICD10:K13.0|DOID:9297|UMLS:C0023760|SCTID:90678009																		owl:Class
MONDO:0014944	biolink:NamedThing	short stature-brachydactyly-obesity-global developmental delay syndrome		mondoexuq1wtf	short stature, brachydactyly, intellectual developmental disability, and seizures|SBIDDS											UMLS:C4310689|Orphanet:464288|OMIM:617157																		owl:Class
MONDO:0005824	biolink:NamedThing	Legionnaires' disease	A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.	mondoexuq1wtf	Legionella|infection by Legionella pneumophilia|legionnaire's disease|Legionella pneumonia											EFO:0007343|SCTID:195889001|ICD9:482.84|MESH:D007877|DOID:10457|ICD10:A48.1|NCIT:C128339																		owl:Class
MONDO:0005823	biolink:NamedThing	legionellosis	Any disease caused by Legionella bacteria.	mondoexuq1wtf	Legionnaires disease|Legionella infection											MESH:D007876|NCIT:C128334|UMLS:C0023240|MedDRA:10061266|SCTID:26726000|Orphanet:549|UMLS:CN205282|ICD10:A48.1|EFO:0007342|DOID:10458|MedDRA:10035718																		owl:Class
MONDO:0008109	biolink:NamedThing	ocular cicatricial pemphigoid	Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.	mondoexuq1wtf	ocular cicatricial pemphigoid|pemphigoid, ocular cicatricial|OCP|cicatricial pemphigoid, ocular											UMLS:C1282359|SCTID:314757003|GARD:0008759|OMIM:164185|NCIT:C84939|EFO:0008610														https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid				owl:Class
MONDO:0018746	biolink:NamedThing	mucous membrane pemphigoid	Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.	mondoexuq1wtf	ocular pemphigus|mucosal pemphigoid|cicatricial pemphigoid|Mucosynechial pemphigoid|benign mucous membrance pemphigoid|benign mucous membrane pemphigoid|benign mucosal pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous Membrane pemphigoid|ocular pemphigoid|benign mucous membrane pemphigoid with ocular involvement											NCIT:C34907|DOID:11656|GARD:0005913|ICD10:L12.1|ICD9:694.61|EFO:1000680|COHD:376189|MedDRA:10057052|SCTID:76092003|ICD9:694.6|Orphanet:46486																		owl:Class
MONDO:0005636	biolink:NamedThing	adenosarcoma	A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.	mondoexuq1wtf	Müllerian adenosarcoma|mullerian adenosarcoma|Mullerian adenosarcoma|adenosarcoma (morphologic abnormality)|adenosarcoma											UMLS:C0001442|DOID:1974|EFO:0007134|MESH:D018195|NCIT:C9474|ICDO:8933/3																		owl:Class
MONDO:0005853	biolink:NamedThing	malignant mixed neoplasm	A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.	mondoexuq1wtf	tumor, malignant mixed|malignant mixed tumors|malignant mixed cancer|mixed neoplasm, malignant|mixed tumors, malignant|tumors, malignant mixed|mixed tumor|tumor, mixed, malignant|malignant mixed neoplasm|mixed tumor, malignant (morphologic abnormality)|mixed tumor, malignant|malignant mixed tumor|mixed neoplasm|mixed cell type cancer|mixed tumor, malignant, NOS (morphologic abnormality)											UMLS:C0206625|DOID:154|EFO:0007373|NCIT:C3729|ICDO:8940/3|MESH:D018198|EFO:1000356																		owl:Class
MONDO:0009395	biolink:NamedThing	hyperostosis corticalis generalisata	Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.	mondoexuq1wtf	endosteal hyperostosis|VBCH|hyperostosis corticalis generalisata|endosteal hyperostosis autosomal recessive|endosteal hyperostosis, autosomal recessive|VAN Buchem disease|van Buchem disease|van Buchem disease type 1|hyperphosphatasemia tarda|Van Buchem disease|SOST-related sclerosing bone dysplasia											OMIM:239100|SCTID:59763006|NCIT:C131812|ICD10:M85.2|Orphanet:3416|DOID:0080036|GARD:0002833																		owl:Class
MONDO:0019091	biolink:NamedThing	bronchopulmonary dysplasia	Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.	mondoexuq1wtf	BPD											UMLS:C0006287|ICD10:P27.1|Orphanet:70589|MESH:D001997|NCIT:C90599|GARD:0005962|SCTID:67569000|MedDRA:10006475														https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia				owl:Class
MONDO:0015930	biolink:NamedThing	respiratory malformation		mondoexuq1wtf												Orphanet:182111																		owl:Class
MONDO:0003296	biolink:NamedThing	cellular leiomyoma	A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	mondoexuq1wtf	cellular leiomyoma|cellular leiomyoma (morphologic abnormality)											NCIT:C4256|UMLS:C0334477|ICDO:8892/0|DOID:5139																		owl:Class
MONDO:0001572	biolink:NamedThing	leiomyoma	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyomatous neoplasm (morphologic abnormality)|leiomyoma|leiomyoma, benign|fibroid|fibroid tumor|fibroid neoplasm|leiomyomatous neoplasm|leiomyomatous tumor											MESH:D007889|NCIT:C3157|SCTID:146801000119103|UMLS:C0023267|ICD9:215.9|ICDO:8890/0|DOID:127																		owl:Class
MONDO:0017045	biolink:NamedThing	neuroectodermal-endocrine syndrome	Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.	mondoexuq1wtf	Oerter-Friedman-Anderson syndrome|neuroectodermal endocrine syndrome											Orphanet:2676|SCTID:724090001|GARD:0003959|UMLS:CN202391|ICD10:E31.8														https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome				owl:Class
MONDO:0006838	biolink:NamedThing	lupus vulgaris	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.	mondoexuq1wtf												MedDRA:10025143|EFO:1001023|MESH:D008177|UMLS:C0024131|SCTID:10528009																		owl:Class
MONDO:0018076	biolink:NamedThing	tuberculosis	A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.	mondoexuq1wtf	TB|tuberculosis disease|Kochs disease|active tuberculosis											ICD10:A15.A19|ICD9:017.90|NCIT:C3423|Orphanet:3389|ICD9:017.94|GARD:0007827|MedDRA:10044755|ICD9:017.96|ICD9:017.92|MESH:D014376|DOID:399|UMLS:C0041296|SCTID:56717001|COHD:434557|UMLS:C0151332														https://rarediseases.info.nih.gov/diseases/7827/tuberculosis				owl:Class
MONDO:0017086	biolink:NamedThing	primary tethered cord syndrome	Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	mondoexuq1wtf	segmental vertebral anomalies|occult spinal dysraphism|occult spinal dysraphism sequence|tethered cord syndrome|primary tethered spinal cord syndrome											SCTID:70534000|GARD:0004018|Orphanet:268861|UMLS:CN202446																		owl:Class
MONDO:0018075	biolink:NamedThing	neural tube defect	A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.	mondoexuq1wtf	NTD|spinal dysraphism											DOID:0080074|Orphanet:3388|SCTID:253098009|NCIT:C84923|MESH:D009436|ICD9:742.8																		owl:Class
MONDO:0017203	biolink:NamedThing	chronic endophthalmitis	Chronic form of endophthalmitis.	mondoexuq1wtf	endophthalmitis, chronic											COHD:443867|UMLS:C0154774|Orphanet:279891|ICD9:360.03|ICD10:H44.0|DOID:10697|ICD10:H44.1|SCTID:13978000|MedDRA:10008864																		owl:Class
MONDO:0004863	biolink:NamedThing	purulent endophthalmitis		mondoexuq1wtf												UMLS:C0259800|COHD:432621|DOID:9724|ICD9:360.00|SCTID:41720003|ICD10:H44.00|ICD10:H44.0|ICD9:360.0																		owl:Class
MONDO:0012207	biolink:NamedThing	umbilicus, familial flat		mondoexuq1wtf	flat umbilicus familial|flat umbilicus, autosomal dominant|flat umbilicus autosomal dominant|umbilicus, familial flat											OMIM:609164|UMLS:C1836682|MESH:C537059|GARD:0009490														https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial				owl:Class
MONDO:0011782	biolink:NamedThing	angioid streaks	Small breaks in the elastin-filled tissue of the retina.	mondoexuq1wtf	angioid streaks											OMIM:607140|UMLS:C0002982|MedDRA:10066191|DOID:13401|EFO:1000805|MESH:D000793																		owl:Class
MONDO:0005283	biolink:NamedThing	retinal disease	Any disease or disorder of the retina.	mondoexuq1wtf	retina eye disease|eye disease of retina|retinopathy											NCIT:C62601|MESH:D012164|HGNC:8002|ICD9:362.89|SCTID:29555009|DOID:5679|DC:0000592|COHD:376103|EFO:0003839|ICD10:H35.9|ICD9:362.9|UMLS:C0035309																		owl:Class
MONDO:0011715	biolink:NamedThing	Seckel syndrome 2	Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.	mondoexuq1wtf	Seckel-type dwarfism 2|RBBP8 Seckel syndrome|Seckel syndrome caused by mutation in RBBP8|microcephalic primordial dwarfism 2|SCKL2|Seckel syndrome 2|Seckel syndrome type 2											MESH:C537534|OMIM:606744|DOID:0070013|UMLS:C1847572																		owl:Class
MONDO:0019342	biolink:NamedThing	Seckel syndrome	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.	mondoexuq1wtf	Seckel-type Dwarfism|Virchow-Seckel dwarfism|bird-headed dwarfism|nanocephalic Dwarfism|Harper's syndrome|SCKL											UMLS:C0265202|OMIMPS:210600|SCTID:57917004|DOID:0050569|ICD10:Q87.1|ICD9:759.89|NCIT:C125488|GARD:0008562|Orphanet:808																		owl:Class
MONDO:0012781	biolink:NamedThing	celiac disease, susceptibility to, 12		mondoexuq1wtf	CELIAC12|celiac disease, susceptibility to, 12|gluten-sensitive enteropathy, susceptibility to, 12											OMIM:612010																		owl:Class
MONDO:0005130	biolink:NamedThing	celiac disease	An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.	mondoexuq1wtf	celiac sprue|idiopathic steatorrhea|gluten-induced enteropathy|non tropical sprue|coeliac disease											GARD:0011998|ICD9:579.0|MESH:D002446|COHD:194992|UMLS:C0007570|EFO:0001060|SCTID:396331005|ICD10:K90.0|OMIMPS:212750|NCIT:C26714|DOID:10608																		owl:Class
MONDO:0016817	biolink:NamedThing	Meier-Gorlin syndrome	Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).	mondoexuq1wtf	ear-patella-short stature syndrome|Meier-Gorlin syndrome											ICD10:Q87.1|OMIMPS:224690|MESH:C538012|GARD:0002033|DOID:0060306|Orphanet:2554|MedDRA:10070612																		owl:Class
MONDO:0019712	biolink:NamedThing	patellar dysostosis		mondoexuq1wtf												Orphanet:93455																		owl:Class
MONDO:0019080	biolink:NamedThing	alopecia totalis	Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.	mondoexuq1wtf	total alopecia areata|alopecia totalis											Orphanet:700|UMLS:C0263504|ICD9:704.09|GARD:0000613|MedDRA:10001766|ICD10:L63.0|SCTID:19754005																		owl:Class
MONDO:0004907	biolink:NamedThing	alopecia	Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.	mondoexuq1wtf	alopecia|hair loss|alopecia areata|loss Of hair											ICD10:L65.9|ICD9:704.00|UMLS:C0002170|ICD9:704.09|COHD:133280|MESH:D000505|SCTID:56317004|NCIT:C50575|DOID:987|Orphanet:79364|ICD9:704.0																		owl:Class
MONDO:0007657	biolink:NamedThing	giant neutrophil leukocytes		mondoexuq1wtf	giant neutrophil leukocytes											UMLS:C1842039|OMIM:137500																		owl:Class
MONDO:0010288	biolink:NamedThing	adrenomyodystrophy	Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	adrenomyodystrophy											OMIM:300270|GARD:0000562|Orphanet:977|SCTID:763311001|UMLS:C1846044|MESH:C538051																		owl:Class
MONDO:0015129	biolink:NamedThing	chronic primary adrenal insufficiency	Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.	mondoexuq1wtf	chronic adrenocorticoid insufficiency|Addison disease|Addison's disease|CPAI|primary adrenal insufficiency, chronic|Primary Hypoadrenalism											NCIT:C26689|Orphanet:101959																		owl:Class
MONDO:0004542	biolink:NamedThing	cervical adenosquamous carcinoma, glassy cell variant	A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.	mondoexuq1wtf	glassy cell carcinoma of the cervix|glassy cell variant cervical adenosquamous carcinoma|glassy cell adenocarcinoma of the uterine cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|GCC of the cervix											Orphanet:213833|NCIT:C40212|ICD10:C53.8|ONCOTREE:CEGCC|ICD10:C53.0|MESH:C536823|DOID:8361|ICD10:C53.1|GARD:0008437														https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix				owl:Class
MONDO:0006134	biolink:NamedThing	cervical adenosquamous carcinoma	An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.	mondoexuq1wtf	adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of the uterine cervix|cervical adenosquamous cancer|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix uteri|adenosquamous carcinoma of cervix|adenosquamous cell carcinoma of the cervix|cervical adenosquamous carcinoma|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix uteri|cervical adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|uterine cervix adenosquamous cell carcinoma											SCTID:254888007|NCIT:C4519|EFO:1000162|UMLS:C0346202|DOID:5636|ONCOTREE:CEAS																		owl:Class
MONDO:0030868	biolink:NamedThing	spermatogenic failure 49		mondoexuq1wtf	SPGF49|spermatogenic failure 49											OMIM:619144																		owl:Class
MONDO:0004983	biolink:NamedThing	azoospermia	Complete absence of spermatozoa in the semen.	mondoexuq1wtf	spermatogenic failure											ICD10:N46.0|EFO:0000279|ICD10:N46.01|ICD9:606.0|DOID:14227|MESH:D053713|UMLS:C0004509|COHD:4143116|OMIMPS:258150|SCTID:425558002																		owl:Class
MONDO:0024664	biolink:NamedThing	hypertension, pregnancy-induced	A hypertensive disorder that develops during pregnancy.	mondoexuq1wtf	hypertension, pregnancy induced|transient hypertension, pregnancy|pregnancy-induced hypertension|induced hypertension, pregnancy|hypertension-associated pregnancy disorder|pregnancy induced hypertension|hypertension associated disorders of pregnancy|hypertension, pregnancy transient|hypertension induced by pregnancy|hypertension complicating pregnancy|gestational hypertension|induced Hypertensions, pregnancy|hypertensions, pregnancy induced|hypertension, gestational|pregnancy transient hypertension										MONDO:0024581	SCTID:48194001|NCIT:C9243|MESH:D046110																		owl:Class
MONDO:0005044	biolink:NamedThing	hypertensive disorder	Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.	mondoexuq1wtf	blood pressure, high|high blood pressure|hypertensive disease|HTN|blood pressure, increased|pressure, high blood|hypertension|vascular hypertensive disorder|hyperpiesia|increased blood pressure											ICD10:I10-I15|UMLS:C0020538|ICD10:I15|ICD10:I10|EFO:0000537|ICD9:997.91|NCIT:C3117|DOID:10763|SCTID:38341003|HP:0000822|MESH:D006973|ICD9:401-405.99																		owl:Class
MONDO:0008721	biolink:NamedThing	medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.	mondoexuq1wtf	acyl-CoA dehydrogenase medium chain deficiency of|MCADD|acyl-CoA dehydrogenase, medium-chain deficiency|medium-chain acyl-CoA dehydrogenase deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|ACADMD|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|medium chain acyl CoA dehydrogenase deficiency|medium-chain acyl-Coenzyme A dehydrogenase deficiency|MCAD deficiency|MCAD|ACADM deficiency											ICD10:E71.3|NCIT:C84538|Orphanet:42|ICD10:E71.311|OMIM:201450|GARD:0000540|ICD9:277.85|DOID:0080153|SCTID:128596003|MESH:C536038|UMLS:C0220710																		owl:Class
MONDO:0044976	biolink:NamedThing	disease of catalytic activity		mondoexuq1wtf	enzymopathy|enzyme disorder											UMLS:C0520572|SCTID:78548001																		owl:Class
MONDO:0012557	biolink:NamedThing	cardiomyopathy-hypotonia-lactic acidosis syndrome	Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	mondoexuq1wtf	hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|Mpcd|mitochondrial phosphate carrier deficiency											Orphanet:91130|ICD10:G71.3|UMLS:C1835845|UMLS:C4305259|MESH:C563665|SCTID:718713000|OMIM:610773																		owl:Class
MONDO:0006040	biolink:NamedThing	lactic acidosis	Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.	mondoexuq1wtf												MESH:D000140|SCTID:91273001|UMLS:C0001125																		owl:Class
MONDO:0026731	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 8		mondoexuq1wtf	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8|CHNG8											OMIM:301033																		owl:Class
MONDO:0000045	biolink:NamedThing	hypothyroidism, congenital, nongoitrous		mondoexuq1wtf												DC:0000217|OMIMPS:275200																		owl:Class
MONDO:0019844	biolink:NamedThing	pituitary hormone deficiency secondary to storage disease		mondoexuq1wtf						Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120						UMLS:CN206788|Orphanet:95618																		owl:Class
MONDO:0015127	biolink:NamedThing	pituitary deficiency		mondoexuq1wtf						Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes						Orphanet:101957|ICD10:E23.0																		owl:Class
MONDO:0042976	biolink:NamedThing	vitamin B deficiency	A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.	mondoexuq1wtf	deficiency, vitamin B|vitamin B deficiencies|deficiencies, vitamin B											NCIT:C35129|UMLS:C0042850|MESH:D014804|SCTID:47903000																		owl:Class
MONDO:0024298	biolink:NamedThing	vitamin deficiency disorder	A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.	mondoexuq1wtf	avitaminosis|vitamin deficiency|deficiency, vitamin|vitamin deficiencies|vitamin deficiency disorder|Avitaminoses|deficiencies, vitamin											NCIT:C35772|EFO:0005878|ICD9:269.2|MESH:D001361|UMLS:C0376286|ICD9:269.1|UMLS:C1510471|SCTID:85670002																		owl:Class
MONDO:0025457	biolink:NamedThing	pulmonary adenomatosis, ovine	A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.	mondoexuq1wtf	Ovine pulmonary carcinoma|Adenomatoses, pulmonary Ovine|Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|Adenomatoses, Ovine pulmonary|pulmonary Adenomatoses, Ovine|Jaagsiekte|Ovine Adenomatoses, pulmonary|Ovine pulmonary Adenomatoses|Ovine adenomatosis, pulmonary|pulmonary Ovine Adenomatoses|pulmonary Ovine adenomatosis|adenomatosis, Ovine pulmonary|pulmonary carcinomas, Ovine|adenomatosis, pulmonary, Ovine|adenomatosis, pulmonary Ovine|Ovine pulmonary adenomatosis|carcinoma, Ovine pulmonary|pulmonary carcinoma, Ovine											UMLS:C0034049|MESH:D011648																		owl:Class
MONDO:0024985	biolink:NamedThing	sheep disease	Diseases of domestic and mountain sheep of the genus Ovis.	mondoexuq1wtf	Ovine disease|diseases, sheep|diseases, Ovine|Ovine diseases|disease, Ovine|disease, sheep|sheep disease											UMLS:C0036946|MESH:D012757																		owl:Class
MONDO:0014859	biolink:NamedThing	developmental and epileptic encephalopathy, 37	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 37|EIEE37|DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, 37; EIEE37|FRRS1L early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 37											UMLS:C4310770|OMIM:616981|DOID:0080435																		owl:Class
MONDO:0100062	biolink:NamedThing	developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.	mondoexuq1wtf	epileptic encephalopathy, infantile|infantile spasm|Ohtahara syndrome|early infantile epileptic encephalopathy with burst-suppression|early infantile epileptic encephalopathy|developmental and epileptic encephalopathy|early infantile epileptic encephalopathy with suppression-bursts|EIEE|infantile epileptic encephalopathy|epileptic encephalopathy, early infantile				2018-10-10 22:04:15+00:00	Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.						ICD9:345.10|Orphanet:1934|GARD:0009255|MedDRA:10071545|EFO:1000643|DOID:0050709|ICD10:G40.3|NCIT:C122814|ICD9:345.6|DOID:2481|OMIMPS:308350|SCTID:230429005|ICD10:G40.82																		owl:Class
MONDO:0001603	biolink:NamedThing	paralytic lagophthalmos		mondoexuq1wtf	paralytic lagophthalmos|paralytic lagophthalmos (disease)		paralytic lagophthalmos (disease)									DOID:12958|UMLS:C0155197|HP:0030003|ICD10:H02.23|COHD:375821|ICD9:374.21																		owl:Class
MONDO:0001604	biolink:NamedThing	lagophthalmos		mondoexuq1wtf												COHD:381021|ICD10:H02.2|ICD9:374.2|SCTID:60735000|ICD9:374.20|ICD10:H02.20|UMLS:C0152226|DOID:12959																		owl:Class
MONDO:0007091	biolink:NamedThing	amelia and terminal transverse hemimelia		mondoexuq1wtf	amelia and terminal transverse hemimelia											MESH:C566294|OMIM:104400|UMLS:C1863014																		owl:Class
MONDO:0001982	biolink:NamedThing	Niemann-Pick disease	A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.	mondoexuq1wtf	Niemann-Pick disease with cholesterol esterification block|sphingomyelin/cholesterol lipidosis|lipoid histiocytosis|lipoid histiocytosis (classical phosphatide)|sphingomyelinase deficiency disease|type A Niemann-Pick disease|Niemann-Pick disease, subacute juvenile form|sphingomyelin lipidosis											DOID:14504|NCIT:C61269|MESH:D009542|EFO:1001380|SCTID:58459009|ICD10:E75.24|ICD10:E75.242|UMLS:C0028064|ICD10:E75.249|GARD:0013334																		owl:Class
MONDO:0017133	biolink:NamedThing	genetic systemic or rheumatologic disease	An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome.	mondoexuq1wtf	hereditary systemic or rheumatic disease											UMLS:CN202531|Orphanet:271870														https://github.com/monarch-initiative/mondo/issues/3570				owl:Class
MONDO:0014770	biolink:NamedThing	Joubert syndrome 25	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.	mondoexuq1wtf	JBTS25|Joubert syndrome caused by mutation in CEP104|Joubert syndrome 25|Joubert syndrome type 25|CEP104 Joubert syndrome											OMIM:616781|UMLS:C4084842|DOID:0110994																		owl:Class
MONDO:0018772	biolink:NamedThing	Joubert syndrome	Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	mondoexuq1wtf	CPD IV|cerebellar vermis agenesis|Joubert-Boltshauser syndrome|JBTS|cerebelloparenchymal disorder IV|pure Joubert syndrome|Joubert syndrome type A|classic Joubert syndrome											Orphanet:475|NCIT:C74996|GARD:0006802|ICD10:Q04.3|DOID:0050777|OMIMPS:213300|SCTID:716997004																		owl:Class
MONDO:0007991	biolink:NamedThing	microcephaly-deafness-intellectual disability syndrome	Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	mondoexuq1wtf	Kawashima Tsuji syndrome|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima-Tsuji syndrome|microcephaly-deafness syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies											Orphanet:2533|SCTID:716112005|ICD10:Q87.8|GARD:0000230|MESH:C537326|OMIM:156620|UMLS:C0796062																		owl:Class
MONDO:0019589	biolink:NamedThing	syndromic genetic deafness		mondoexuq1wtf	syndromic hearing loss											Orphanet:90642|ICD10:H90.3|SCTID:232333009|UMLS:CN206426																		owl:Class
MONDO:0019169	biolink:NamedThing	pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.	mondoexuq1wtf	pyruvate decarboxylase deficiency|PDH|pyruvate dehydrogenase complex deficiency disease|PDHC|pyruvate dehydrogenase complex deficiency|pyruvate dehydrogenase deficiency|deficiency of pyruvic dehydrogenase											DOID:3649|EFO:0007459|ICD10:E74.4|ICD9:277.89|NCIT:C103968|SCTID:46683007|OMIMPS:312170|GARD:0007513|Orphanet:765																		owl:Class
MONDO:0016402	biolink:NamedThing	mitochondrial disease with epilepsy		mondoexuq1wtf												UMLS:CN201331|Orphanet:225700																		owl:Class
MONDO:0000503	biolink:NamedThing	lung adenocarcinoma in situ	A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.	mondoexuq1wtf	lung adenosquamous cell carcinoma in situ|lung adenocarcinoma In situ|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung cancer|bronchioalveolar carcinoma|stage 0 adenosquamous cell lung carcinoma|stage 0 adenosquamous cell carcinoma of the lung|in situ pulmonary adenocarcinoma|stage 0 adenosquamous lung carcinoma aJCC v6|bronchioloalveolar carcinoma|adenosquamous cell carcinoma in situ of the lung|stage 0 adenosquamous cell carcinoma of lung					Editor note: check why NCIT has two classes						ONCOTREE:LAIS|NCIT:C8748|NCIT:C136486|DOID:0050870|UMLS:C0854971																		owl:Class
MONDO:0005061	biolink:NamedThing	lung adenocarcinoma	A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.	mondoexuq1wtf	nonsmall cell adenocarcinoma|adenocarcinoma of lung|adenocarcinoma of the lung|bronchogenic lung adenocarcinoma|non-small cell lung adenocarcinoma|lung adenocarcinoma											MESH:C538231|UMLS:C0152013|EFO:0000571|GARD:0005742|NCIT:C3512|EFO:0005288|DOID:3910|ONCOTREE:LUAD|SCTID:254626006														https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma				owl:Class
MONDO:0000341	biolink:NamedThing	paralytic poliomyelitis	A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.	mondoexuq1wtf												DOID:0050515																		owl:Class
MONDO:0017373	biolink:NamedThing	poliomyelitis	An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.	mondoexuq1wtf	Polia|polio|acute poliomyelitis|infantile paralysis|poliomyelitis											EFO:0007450|COHD:378679|MESH:D011051|SCTID:398102009|ICD10:A80.9|ICD9:045.90|ICD10:A80.3|ICD9:045|ICD10:A80.4|MedDRA:10036012|NCIT:C35550|UMLS:C0032371|ICD10:A80|GARD:0007413|DOID:4953|ICD9:045.9|ICD9:045.92|ICD10:A80.1|ICD10:A80.0|Orphanet:2912|ICD10:A80.2																		owl:Class
MONDO:0002457	biolink:NamedThing	Treacher-Collins syndrome	Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.	mondoexuq1wtf	Treacher Collins syndrome|TCOF|mandibulofacial dysostosis without limb anomalies|MFD1|Franceschetti syndrome|Franceschetti-Klein syndrome|TCS											Orphanet:861|OMIMPS:154500|NCIT:C75018|ICD10:Q75.4|MedDRA:10051456|GARD:0009124|UMLS:C0265241|DOID:2908|SCTID:62767009																		owl:Class
MONDO:0020158	biolink:NamedThing	eyelids malposition disorder		mondoexuq1wtf												Orphanet:98567|UMLS:CN227803																		owl:Class
MONDO:0007276	biolink:NamedThing	cat-eye syndrome	Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.	mondoexuq1wtf	chromosome 22 partial tetrasomy|Inv dup(22)(q11)|CES|CAT eye syndrome|Schmid-Fraccaro syndrome											GARD:0000026|ICD10:Q92.8|UMLS:C0265493|NCIT:C75477|SCTID:26445008|MESH:C535918|OMIM:115470|Orphanet:195														https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome				owl:Class
MONDO:0015620	biolink:NamedThing	syndromic urogenital tract malformation	A urogenital tract malformation that is part of a larger syndrome.	mondoexuq1wtf	syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation											Orphanet:165707|UMLS:CN226715																		owl:Class
MONDO:0002354	biolink:NamedThing	benign laryngeal neoplasm	A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.	mondoexuq1wtf	benign larynx tumor|larynx neoplasm|benign laryngeal tumor|laryngeal benign neoplasm|benign larynx neoplasm|laryngeal neoplasm, benign|benign tumor of the larynx|larynx benign neoplasm|benign neoplasm of larynx|benign laryngeal neoplasm|benign neoplasm of the larynx|benign tumor of larynx|laryngeal tumor											SCTID:92175003|NCIT:C3601|COHD:23731|UMLS:C0153952|DOID:2598|ICD9:212.1																		owl:Class
MONDO:0021071	biolink:NamedThing	laryngeal neoplasm	A benign or malignant neoplasm involving the larynx.	mondoexuq1wtf	laryngeal neoplasm|neoplasm of larynx|laryngeal tumor|tumor of larynx|larynx neoplasm|larynx tumor|neoplasm of the larynx|larynx neoplasm (disease)|tumor of the larynx											UMLS:C0023055|MESH:D007822|EFO:0003817|SCTID:126692004|NCIT:C3156																		owl:Class
MONDO:0014636	biolink:NamedThing	combined oxidative phosphorylation defect type 25	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.	mondoexuq1wtf	COXPD25|combined oxidative phosphorylation deficiency type 25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 25|combined oxidative phosphorylation deficiency caused by mutation in MARS2											OMIM:616430|UMLS:C4225329|EFO:0009035|Orphanet:447954|ICD10:E88.8|DOID:0111468																		owl:Class
MONDO:0000732	biolink:NamedThing	combined oxidative phosphorylation deficiency	A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.	mondoexuq1wtf												OMIMPS:609060|DOID:0060286|GARD:0012893														https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency				owl:Class
MONDO:0009759	biolink:NamedThing	mosaic variegated aneuploidy syndrome 1	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.	mondoexuq1wtf	mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|mosaic variegated aneuploidy syndrome 1|MVA1|MOSAIC variegated aneuploidy syndrome 1|BUB1B mosaic variegated aneuploidy syndrome|Mosaic variegated aneuploidy syndrome type 1|MVA syndrome|mosaic variegated aneuploidy syndrome type 1											UMLS:CN031748|OMIM:257300|DOID:0080141																		owl:Class
MONDO:0000141	biolink:NamedThing	mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.	mondoexuq1wtf	MVA1|Warburton-Anyane-Yeboa syndrome|Mosaic variegated aneuploidy syndrome 1											UMLS:C1850343|ICD9:758.89|Orphanet:1052|OMIMPS:257300|ICD10:Q99.8|DC:0000564|MESH:C536987|SCTID:700056005|NCIT:C128192|GARD:0003007																		owl:Class
MONDO:0017420	biolink:NamedThing	intercalary limb defects		mondoexuq1wtf	intercalary meromelia											Orphanet:294927																		owl:Class
MONDO:0019713	biolink:NamedThing	non-syndromic limb reduction defect		mondoexuq1wtf	isolated limb reduction defect|non-syndromic limb hypoplasia|nonsyndromic limb reduction defect											ICD10:Q73.1|ICD10:Q72.0|ICD10:Q71.6|ICD10:Q71.0|ICD10:Q72.5|ICD10:Q71.8|Orphanet:93457|ICD10:Q72.3|ICD10:Q71.4|ICD10:Q72.1|ICD10:Q73.0|ICD10:Q72.9|ICD10:Q71.5|ICD10:Q72.4|ICD10:Q72.2|ICD10:Q71.3|ICD10:Q71.9|ICD10:Q71.2|ICD10:Q72.6|ICD10:Q72.7|ICD10:Q73.8|ICD10:Q71.1|ICD10:Q72.8																		owl:Class
MONDO:0001298	biolink:NamedThing	congenital mitral valve insufficiency	Dysfunction of the mitral valve characterized by incomplete valve closure.	mondoexuq1wtf	congenital mitral regurgitation|congenital mitral insufficiency|mitral regurgitation|mitral valve incompetence|mitral insufficiency|congenital insufficiency of mitral valve|insufficiency, mitral|mitral valve insufficiency											ICD9:746.6|DOID:11502|MESH:D008944|ICD10:Q23.3|NCIT:C50888|SCTID:29928006|ICD9:396.3|UMLS:C0158619																		owl:Class
MONDO:0020674	biolink:NamedThing	vascular insufficiency disorder		mondoexuq1wtf	vascular insufficiency											SCTID:86341008																		owl:Class
MONDO:0002295	biolink:NamedThing	skin glomus tumor	A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.	mondoexuq1wtf	glomus skin neoplasm|skin glomus neoplasm|glomus tumor of skin|glomus skin tumor|glomus neoplasm of skin|glomus tumor of the skin|zone of skin glomus tumor|glomus neoplasm of the skin											UMLS:C0346083|NCIT:C4491|DOID:2430|SCTID:254795008																		owl:Class
MONDO:0018327	biolink:NamedThing	glomus tumor	A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.	mondoexuq1wtf	glomus neoplasm|glomus tumor|glomus tumour											ICDO:8711/0|NCIT:C3060|ICD9:239.7|MESH:D005918|Orphanet:391651|DOID:2431|ICD10:D18.0|SCTID:403969002|UMLS:C0017653																		owl:Class
MONDO:0021530	biolink:NamedThing	benign neoplasm of subglottis	A benign neoplasm that involves the subglottis.	mondoexuq1wtf	benign neoplasm of the subglottis|benign tumor of subglottis|benign subglottis neoplasm|benign subglottis tumor|benign subglottic tumor|subglottis benign neoplasm|benign tumor of the subglottis|benign subglottic neoplasm											NCIT:C4427|SCTID:92412003|UMLS:C0345749																		owl:Class
MONDO:0000933	biolink:NamedThing	subglottis neoplasm	A benign or malignant neoplasm that affects the subglottic area of the larynx.	mondoexuq1wtf	subglottis neoplasm (disease)|subglottis neoplasm|tumor of subglottis|tumor of the subglottis|subglottis tumor|neoplasm of the subglottis|subglottic neoplasm|subglottic tumor|neoplasm of subglottis											NCIT:C4426|SCTID:126696001|UMLS:C0345746|DOID:10069																		owl:Class
MONDO:0005412	biolink:NamedThing	duodenal ulcer	An ulcer in the duodenal wall.	mondoexuq1wtf	curling Ulcer|duodenal ulcer|duodenal ulcer (disease)|stress Ulcer|curling's ulcers		duodenal ulcer (disease)									MESH:D004381|ICD10:K26|DOID:1724|SCTID:39755000|ICD9:532|HP:0002588|EFO:0004607|NCIT:C26755																		owl:Class
MONDO:0002866	biolink:NamedThing	duodenal disease	Pathological conditions in the duodenum region of the small intestine (intestine, small).	mondoexuq1wtf	disorder of duodenum|disease of duodenum|duodenum disorder|duodenum disease|disease or disorder of duodenum|duodenum disease or disorder											UMLS:C0013289|DOID:4072|ICD9:537.89|ICD9:537.9|SCTID:52182008|MESH:D004378																		owl:Class
MONDO:0012646	biolink:NamedThing	glaucoma 1, open angle, H		mondoexuq1wtf	GLC1H|glaucoma 1, open angle, H											UMLS:C1969811|MESH:C566976|OMIM:611276																		owl:Class
MONDO:0005338	biolink:NamedThing	open-angle glaucoma	Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.	mondoexuq1wtf	wide-angle glaucoma|pigmentary glaucoma|open angle glaucoma|glaucoma simplex											UMLS:C0017612|SCTID:84494001|ICD9:365.13|SCTID:46168003|MESH:D005902|ICD10:H40.10|ICD10:H40.13|NCIT:C34641|EFO:0004190|ICD9:365.10|ICD9:365.1|DOID:1067|COHD:441284|ICD10:H40.1																		owl:Class
MONDO:0013900	biolink:NamedThing	alternating hemiplegia of childhood 2	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.	mondoexuq1wtf	alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3|AHC2											UMLS:C3553788|OMIM:614820																		owl:Class
MONDO:0016241	biolink:NamedThing	alternating hemiplegia of childhood	Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.	mondoexuq1wtf	childhood alternating hemiplegia|alternating hemiplegia|AHC|congenital adrenal Hypoplasia|alternating hemiplegia of childhood|pediatric alternating hemiplegia|congenital adrenal gland hypoplasia|alternating hemiplegia syndrome|adrenal hypoplasia congenita											GARD:0000011|OMIMPS:104290|DOID:0050635|UMLS:C0338488|ICD10:G98|MESH:C536589|SCTID:230466004|Orphanet:2131|NCIT:C35261																		owl:Class
MONDO:0030720	biolink:NamedThing	trichomonal vulvovaginitis	An vulvovaginitis caused by infection with Trichomonas vaginalis.	mondoexuq1wtf	leukorrhea vaginalis - trichomonal|trichomonal leukorrhea|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis|Trichomonas vaginalis vulvovaginitis											SCTID:81598001|UMLS:C2945558|ICD9:131.01																		owl:Class
MONDO:0007019	biolink:NamedThing	vulvovaginitis	An inflammatory pathologic process that affects the vulva and the vagina.	mondoexuq1wtf	Vulvo-vaginitis											EFO:1001240|DOID:2273|MedDRA:10047794|MESH:D014848|NCIT:C35131|ICD10:N76.0|SCTID:53277000|COHD:4180978|UMLS:C0042998																		owl:Class
MONDO:0013988	biolink:NamedThing	congenital heart defects, multiple types, 3		mondoexuq1wtf	CHTD3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3											UMLS:C3554194|OMIM:614954																		owl:Class
MONDO:0018356	biolink:NamedThing	secondary neonatal autoimmune disease		mondoexuq1wtf	Transplacentally acquired neonatal autoimmune disease											UMLS:CN226097|Orphanet:398091																		owl:Class
MONDO:0015939	biolink:NamedThing	systemic autoimmune disease	An autoimmune form of systemic disease.	mondoexuq1wtf	autoimmune systemic disease											Orphanet:182228|UMLS:CN200529																		owl:Class
MONDO:0007191	biolink:NamedThing	Behcet disease	Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.	mondoexuq1wtf	Behçet’s disease|Behcet syndrome|Behcet's disease|Behçet's disease|Morbus Behçet's syndrome|Behçet syndrome|silk road disease|Behçet's syndrome|Behçet-Adamantiades syndrome|Adamantiades-Behcet disease|triple symptom complex|Behet's syndrome|Behcet's syndrome|Behçet disease|BD|Bechet syndrome|Behcet disease											ICD9:136.1|MESH:D001528|OMIM:109650|EFO:0003780|DOID:13241|UMLS:C0004943|MedDRA:10004213|Orphanet:117|COHD:436642|GARD:0000848|NCIT:C34416|ICD10:M35.2|SCTID:310701003																		owl:Class
MONDO:0017957	biolink:NamedThing	unclassified autoinflammatory syndrome		mondoexuq1wtf												UMLS:CN204103|Orphanet:324936																		owl:Class
MONDO:0007852	biolink:NamedThing	palmoplantar keratoderma-deafness syndrome	Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	mondoexuq1wtf	palmoplantar hyperkeratosis-deafness syndrome|hereditary palmoplantar keratoderma with deafness (subtype)|PPK-deafness syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|palmoplantar keratoderma-hearing loss syndrome|palmoplantar keratoderma and sensorineural deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-hearing loss syndrome|keratoderma palmoplantar, with deafness|keratoderma, palmoplantar, with deafness|diffuse palmoplantar keratoderma with deafness (subtype)											Orphanet:2202|GARD:0003094|OMIM:148350|UMLS:C1835672|MESH:C536152|ICD10:Q82.8|DOID:0111505																		owl:Class
MONDO:0018787	biolink:NamedThing	genetic cerebral small vessel disease		mondoexuq1wtf												UMLS:CN776941|Orphanet:477754																		owl:Class
MONDO:0015953	biolink:NamedThing	genetic central nervous system and retinal vascular disease		mondoexuq1wtf												UMLS:CN200550|Orphanet:183503																		owl:Class
MONDO:0003273	biolink:NamedThing	sternum cancer	A malignant neoplasm involving the sternum	mondoexuq1wtf	malignant sternum neoplasm|malignant sternal neoplasm|malignant tumor of sternum|cancer of sternum|sternum cancer|malignant tumor of the sternum|malignant neoplasm of the sternum|malignant neoplasm of sternum|malignant sternal tumor|neoplasm of sternum											DOID:5090|UMLS:C1382025|NCIT:C8408																		owl:Class
MONDO:0002129	biolink:NamedThing	bone cancer	A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.	mondoexuq1wtf	malignant bone tumour|malignant osseous tumor|malignant bone tumor|malignant tumor of bone|bone cancer|malignant bone neoplasm|cancer of bone|malignant osseous neoplasm|malignant skeletal element neoplasm|cancer of the bone|CA - bone cancer|bone neoplasm|malignant neoplasm of skeletal element|malignant neoplasm of the bone|bone tumour|skeletal element cancer|cancer of skeletal element|osseous cancer|malignant tumor of the bone|osseous tumor|malignant neoplasm of bone											COHD:443564|ICD9:170.9|NCIT:C4016|SCTID:428281000|MESH:D001859|CSP:2019-1041|DOID:184																		owl:Class
MONDO:0021257	biolink:NamedThing	glomus jugulare neoplasm	A neoplasm (disease) that involves the jugular body.	mondoexuq1wtf	jugular body tumor|tumor of jugular body|neoplasm of jugular body|jugular body neoplasm|jugular body neoplasm (disease)					Editor note: consider merging with jugulotympanic paraganglioma																								owl:Class
MONDO:0021351	biolink:NamedThing	neoplasm of neck	A neoplasm (disease) that involves the neck.	mondoexuq1wtf	neck neoplasm|neoplasm of neck|tumor of neck|neck neoplasm (disease)|tumor of the neck|neck neoplasms (Including All pharyngeal related neoplasms)|neck tumor|neoplasm of the neck											SCTID:126635000|NCIT:C3260|ICD9:239.89|UMLS:C0027533																		owl:Class
MONDO:0013249	biolink:NamedThing	autosomal recessive nonsyndromic deafness 84A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.	mondoexuq1wtf	PTPRQ autosomal recessive nonsyndromic deafness|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A|autosomal recessive nonsyndromic deafness type 84A|DFNB84A|deafness, autosomal recessive 84|deafness, autosomal recessive 84A, with vestibular dysfunction|deafness, autosomal recessive 84A|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ											OMIM:613391|ICD10:H90.3|UMLS:C3150654|DOID:0110529																		owl:Class
MONDO:0019588	biolink:NamedThing	deafness, autosomal recessive	Autosomal recessive form of nonsyndromic deafness.	mondoexuq1wtf	autosomal recessive isolated sensorineural deafness type DFNB|nonsyndromic deafness, autosomal recessive|autosomal recessive isolated neurosensory deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|deafness, autosomal recessive|autosomal recessive nonsyndromic deafness|autosomal recessive non-syndromic neurosensory deafness type DFNB|nonsyndromic genetic deafness, autosomal recessive|deafness, neurosensory nonsyndromic recessive, DFN|autosomal recessive nonsyndromic genetic deafness											MESH:C564609|OMIM:607197|UMLS:C1846647|UMLS:CN206424|DC:0000110|DOID:0050565|Orphanet:90636|ICD10:H90.3|OMIMPS:220290|GARD:0001710																		owl:Class
MONDO:0014613	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.	mondoexuq1wtf	pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT3											OMIM:616373|UMLS:C4225346																		owl:Class
MONDO:0000148	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, telomere-related		mondoexuq1wtf						See genetic heterogeneity of OMIM 614742.						UMLS:CN262497|DC:0000590|OMIMPS:614742																		owl:Class
MONDO:0016396	biolink:NamedThing	pontocerebellar hypoplasia type 1	Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.	mondoexuq1wtf	Norman disease|PCH1|mental retardation, autosomal recessive 32|MRT32											UMLS:C1843504|ICD10:Q04.3|Orphanet:2254|MESH:C548069|GARD:0010704|SCTID:718610008|OMIM:614339																		owl:Class
MONDO:0020135	biolink:NamedThing	pontocerebellar hypoplasia	Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.	mondoexuq1wtf	nonsyndromic pontocerebellar hypoplasia|pontoneocerebllar hypoplasia|PCH|pontocerebellar hypoplasia|pontoneocerebellar atrophy|isolated pontocerebellar hypoplasia											DOID:0060264|Orphanet:98523|UMLS:CN924922|OMIMPS:607596|ICD10:Q04.3|SCTID:45163000|MESH:C580383|GARD:0010977														https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia				owl:Class
MONDO:0017386	biolink:NamedThing	pleomorphic rhabdomyosarcoma	An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.	mondoexuq1wtf	anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type											DOID:3250|Orphanet:293199|ICD10:C49.9|SCTID:404054005|ONCOTREE:PLRMS|NCIT:C4258|UMLS:C0334480|ICD9:171.9																		owl:Class
MONDO:0005212	biolink:NamedThing	rhabdomyosarcoma	A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.	mondoexuq1wtf	rhabdomyosarcoma|rhabdomyosarcoma, malignant|rhabdomyosarcoma (disease)		rhabdomyosarcoma (disease)									ICD10:C49.9|MedDRA:10039022|NCIT:C3359|ICD9:171.9|DOID:3247|SCTID:302847003|ONCOTREE:RMS|UMLS:C0035412|EFO:0002918|Orphanet:780|HP:0002859|ICDO:8900/3|MESH:D012208																		owl:Class
MONDO:0012948	biolink:NamedThing	chromosome 6pter-p24 deletion syndrome	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.	mondoexuq1wtf	distal monosomy 6p|monosomy 6p25|distal monosomy type 6p|chromosome 6pter-p24 deletion syndrome|distal deletion 6p|6p25 microdeletion syndrome|6p subtelomeric deletion syndrome											DOID:0060422|SCTID:718688008|OMIM:612582|MESH:C567239|Orphanet:96125|UMLS:C4305276|UMLS:C2675486|ICD10:Q93.5																		owl:Class
MONDO:0016888	biolink:NamedThing	partial deletion of the short arm of chromosome 6		mondoexuq1wtf	partial monosomy of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial deletion of chromosome 6p|partial deletion of the short arm of chromosome type 6											ICD10:Q93.5|Orphanet:261902																		owl:Class
MONDO:0011803	biolink:NamedThing	hereditary spastic paraplegia 7	Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.	mondoexuq1wtf	spastic paraplegia 7, autosomal recessive|spastic paraplegia 7|hereditary spastic paraplegia type 7|hereditary spastic paraplegia paraplegin type|spastic paraplegia type 7|SPG7|autosomal recessive spastic paraplegia 7|SPG7 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in SPG7											Orphanet:99013|ICD10:G11.4|UMLS:C3711370|GARD:0004927|SCTID:715776003|MESH:C564599|OMIM:607259|DOID:0110816|UMLS:C1846564																		owl:Class
MONDO:0011022	biolink:NamedThing	Potocki-Shaffer syndrome	Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	mondoexuq1wtf	PSS|Potocki-Shaffer syndrome|chromosome 11P11.2 deletion syndrome|proximal 11p deletion syndrome|proximal 11P deletion syndrome|11p11.2 deletion|deletion of chromosome 11p11.2|Defect11 syndrome											ICD10:Q93.5|MESH:C538356|OMIM:601224|DOID:0111687|GARD:0009762|ICD9:758.39|SCTID:702346005|Orphanet:52022|NCIT:C75456|UMLS:C1832588																		owl:Class
MONDO:0016893	biolink:NamedThing	partial deletion of the short arm of chromosome 11		mondoexuq1wtf	partial deletion of the short arm of chromosome type 11|partial monosomy of the short arm of chromosome 11|partial monosomy of chromosome 11p|partial deletion of chromosome 11p											ICD10:Q93.5|Orphanet:261947																		owl:Class
MONDO:0005787	biolink:NamedThing	hepatic tuberculosis	Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.	mondoexuq1wtf	tuberculosis of liver											DOID:407|MESH:D014386|ICD9:017.90|UMLS:C0041313|EFO:0007302|SCTID:186273003																		owl:Class
MONDO:0005768	biolink:NamedThing	gastrointestinal tuberculosis	Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.	mondoexuq1wtf	tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of intestines, peritoneum, and mesenteric glands											DOID:404|ICD9:014.80|EFO:0007280|UMLS:C0152717|ICD9:014.81|UMLS:C0041312|MESH:D014385|SCTID:186225008|ICD9:014.86|COHD:196019																		owl:Class
MONDO:0021240	biolink:NamedThing	tongue neoplasm	A neoplasm (disease) that involves the tongue.	mondoexuq1wtf	tongue neoplasm (disease)|tongue tumor|neoplasm of the tongue|tumor of tongue|neoplasm of tongue|tumor of the tongue											EFO:0003871|NCIT:C3416|SCTID:126778001																		owl:Class
MONDO:0005586	biolink:NamedThing	head and neck neoplasm	A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	mondoexuq1wtf	craniocervical region neoplasm|craniocervical region neoplasm (disease)|head and neck neoplasm (excluding central nervous system)|tumor of head and neck|neoplasm of head and neck|tumor of the head and neck|head and neck tumor|neoplasm of the head and neck|head and neck neoplasm|tumor of craniocervical region|neoplasm of craniocervical region|craniocervical region tumor											UMLS:C0018671|ONCOTREE:HEADNECK|SCTID:255055008|NCIT:C3077|EFO:0005950|ICD9:239.89																		owl:Class
MONDO:0006052	biolink:NamedThing	pulmonary tuberculosis	A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.	mondoexuq1wtf	lung tuberculosis|pulmonary TB|lung TB											MESH:D014397|ICD9:011.86|ICD9:011.90|ICD9:011.84|UMLS:C0041327|SCTID:154283005|DOID:2957|ICD10:A15|COHD:253954|NCIT:C26899|ICD9:011|ICD9:011.96|ICD9:011.80|ICD9:011.16|ICD9:011.9|ICD9:011.92|ICD9:011.81|EFO:1000049|ICD9:011.85|ICD10:A15.0																		owl:Class
MONDO:0019234	biolink:NamedThing	peroxisome biogenesis disorder	Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).	mondoexuq1wtf	peroxisomal biogenesis disorders|Zellweger spectrum disorder|PBD-Zellweger spectrum disorder|Zellweger spectrum|peroxisomal biogenesis disorders, Zellweger syndrome spectrum|Zellweger syndrome spectrum|disorders of peroxisome biogenesis|peroxisome biogenesis disorder|cerebrohepatorenal syndrome|peroxisome biogenesis disorder spectrum|PBD-ZSD|peroxisome biogenesis disorder-Zellweger syndrome spectrum|ZSD|PBD-ZSS|peroxisome biogenesis disorders, Zellweger syndrome spectrum|Zellweger spectrum disorders|PBD, ZSS											MESH:C531857|DOID:0080377|NCIT:C146639|MESH:C536664|OMIMPS:214100|GARD:0011890|SCTID:742876007|GARD:0009473|Orphanet:79189														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0008576	biolink:NamedThing	toe, fifth, number of phalanges 1N		mondoexuq1wtf	toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN											OMIM:189000																		owl:Class
MONDO:0013222	biolink:NamedThing	Miyoshi muscular dystrophy 3		mondoexuq1wtf	distal anoctaminopathy|Miyoshi muscular dystrophy type 3|MMD3|Miyoshi muscular dystrophy 3|Miyoshi myopathy 3											ICD10:G71.0|UMLS:C2750076|OMIM:613319|DOID:0070201|MESH:C567645|Orphanet:399096																		owl:Class
MONDO:0009685	biolink:NamedThing	Miyoshi myopathy	Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	mondoexuq1wtf	Miyoshi muscular dystrophy type 1|Miyoshi distal myopathy|Miyoshi muscular dystrophy|MMD1|Miyoshi muscular dystrophy 1|MM|muscular dystrophy, distal, late onset, autosomal recessive					Editor note: consider splitting out type 1						OMIMPS:254130|NCIT:C118846|DOID:0070198|MESH:C537480|Orphanet:45448|ICD10:G71.0|GARD:0009676														https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy				owl:Class
MONDO:0019283	biolink:NamedThing	nail anomaly	A epidermal appendage anomaly that involves the nail.	mondoexuq1wtf	epidermal appendage anomaly of nail|nail epidermal appendage anomaly											Orphanet:79368|MedDRA:10028684																		owl:Class
MONDO:0002884	biolink:NamedThing	nail disease	A disease involving the nail.	mondoexuq1wtf	disease of nail|disorder of nail|nail disease or disorder|disease or disorder of nail|nail disease											ICD10:L60.9|DOID:4123|ICD9:703|ICD9:703.9|ICD9:703.8|MESH:D009260|UMLS:C0027339|SCTID:17790008|ICD10:L60																		owl:Class
MONDO:0012000	biolink:NamedThing	specific phobia	An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.	mondoexuq1wtf	phobia, specific|simple phobia|phobia, simple											SCTID:54587008|EFO:1001918|DOID:599|ICD10:F40.2|ICD9:300.29|NCIT:C35284|MESH:C562465|OMIM:608251																		owl:Class
MONDO:0003699	biolink:NamedThing	phobic disorder	An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.	mondoexuq1wtf	phobia											ICD9:300.20|COHD:4304010|DOID:591|EFO:1001908|ICD10:F40|NCIT:C35420|ICD10:F40.9|ICD9:300.2|MESH:D010698|SCTID:386810004																		owl:Class
MONDO:0011457	biolink:NamedThing	ataxia-telangiectasia-like disorder	An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.	mondoexuq1wtf	ataxia-telangiectasia-like disorder 1|ataxia - telangiectasia-like disorder|ATLD|ATLD1|ataxia-telangiectasia-like disorder type 1											ICD10:G11.3|DC:0000668|ICD9:334.8|MESH:C565779|UMLS:CN239583|OMIMPS:604391|SCTID:700058006																		owl:Class
MONDO:0015945	biolink:NamedThing	polymalformative genetic syndrome with increased risk of developing cancer	Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.	mondoexuq1wtf	PGSIRC											Orphanet:183422|UMLS:CN200541																		owl:Class
MONDO:0018280	biolink:NamedThing	muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.	mondoexuq1wtf	MEB disease with bilateral multicystic leucodystrophy											Orphanet:370997|ICD10:G71.2																		owl:Class
MONDO:0018132	biolink:NamedThing	congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.	mondoexuq1wtf	lissencephaly type 2 with muscular and ocular involvement|MDDGA											DOID:0111229|GARD:0012588|Orphanet:352687														https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies				owl:Class
MONDO:0004540	biolink:NamedThing	epithelioid malignant peripheral nerve sheath tumor	A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.	mondoexuq1wtf	malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor|epithelioid MPNST|malignant epithelioid tumor of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm											NCIT:C6561|DOID:8353|SCTID:404038007|EFO:1000245|UMLS:C1321427																		owl:Class
MONDO:0017827	biolink:NamedThing	malignant peripheral nerve sheath tumor	Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.	mondoexuq1wtf	malignant neoplasm of peripheral nerve sheath|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant peripheral nerve sheath tumour|malignant peripheral nerve sheath tumor|Malig. periph. nerve sheath tum.|malignant neurilemmoma|malignant neurofibroma|neurofibrosarcoma|malignant peripheral nerve sheath neoplasm|malignant schwannoma|malignant neoplasm of the peripheral nerve sheath|malignant tumor of the peripheral nerve sheath|malignant neurilemoma|MPNST|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant tumor of peripheral nerve sheath|neurogenic sarcoma|neurofibrosarcoma, malignant|schwannoma, malignant											ICD10:C47.9|SCTID:404037002|MedDRA:10029236|Orphanet:3148|UMLS:C0751690|NCIT:C3798|ICD9:171.9|DOID:5940|ICDO:9560/3|GARD:0010872|ICDO:9540/3|ONCOTREE:MPNST																		owl:Class
MONDO:0012635	biolink:NamedThing	COG8-CDG	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.	mondoexuq1wtf	congenital disorder of glycosylation type 2h|CDG syndrome type IIh|congenital disorder of glycosylation, type IIh|CDG IIh|CDG2H|carbohydrate deficient glycoprotein syndrome type IIh|COG8-CDG (CDG-IIh)|CDG-IIh|congenital disorder of glycosylation type IIh											MESH:C566987|Orphanet:95428|SCTID:717774004|OMIM:611182|ICD10:E77.8|DOID:0070260|UMLS:C1970021|GARD:0012411																		owl:Class
MONDO:0017750	biolink:NamedThing	defect in conserved oligomeric Golgi complex		mondoexuq1wtf	defect in COG complex											Orphanet:309568|ICD10:E77.8																		owl:Class
MONDO:0019594	biolink:NamedThing	46,XY disorder of sex development due to a testosterone synthesis defect		mondoexuq1wtf	46,XY DSD due to a testosterone synthesis defect											UMLS:CN227656|Orphanet:90783																		owl:Class
MONDO:0017970	biolink:NamedThing	46,XY disorder of sex development due to impaired androgen production		mondoexuq1wtf	46,XY DSD due to impaired androgen production											UMLS:CN227233|Orphanet:325357																		owl:Class
MONDO:0023161	biolink:NamedThing	viral myocarditis	Myocarditis that is caused by an infection with a viral agent.	mondoexuq1wtf	Viral Myocarditis|Viral myocarditis|viral myocarditis											NCIT:C128381|SCTID:89141000|UMLS:C0276138																		owl:Class
MONDO:0100329	biolink:NamedThing	primary viral infectious disease	The initial viral infectious disase that causes illness.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2950				owl:Class
MONDO:0011513	biolink:NamedThing	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology		mondoexuq1wtf	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology											MESH:C565728|OMIM:605055|UMLS:C1857933																		owl:Class
MONDO:0015140	biolink:NamedThing	early-onset autosomal dominant Alzheimer disease	Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.	mondoexuq1wtf	early-onset familial autosomal dominant Alzheimer disease|early-onset, autosomal dominant Alzheimer disease|EOFAD											GARD:0012798|Orphanet:1020|ICD10:G30.0|UMLS:CN043596																		owl:Class
MONDO:0021461	biolink:NamedThing	benign neoplasm of hypopharynx	A benign neoplasm that involves the hypopharynx.	mondoexuq1wtf	benign hypopharyngeal neoplasm|hypopharynx benign neoplasm|benign tumor of hypopharynx|benign neoplasm of the hypopharynx|benign hypopharyngeal tumor|hypopharyngeal neoplasm, benign|benign tumor of the hypopharynx											NCIT:C3596|ICD10:D10.7|SCTID:92139000|UMLS:C0153939|ICD9:210.8																		owl:Class
MONDO:0021523	biolink:NamedThing	benign neoplasm of pharynx	A benign neoplasm that involves the pharynx.	mondoexuq1wtf	benign tumor of the pharynx|pharyngeal neoplasm benign|benign pharyngeal tumor|benign tumor of pharynx|benign pharynx neoplasm|benign pharyngeal neoplasm|benign neoplasm of the pharynx|benign pharynx tumor|pharynx benign neoplasm											ICD9:210.9|UMLS:C0153940|NCIT:C3597|SCTID:92293007																		owl:Class
MONDO:0056797	biolink:NamedThing	neurodevelopmental disorder with midbrain and hindbrain malformations		mondoexuq1wtf	NEDMHM|neurodevelopmental disorder with midbrain and hindbrain malformations											UMLS:C4479613|OMIM:617523|DOID:0080312																		owl:Class
MONDO:0007075	biolink:NamedThing	alacrima, congenital, autosomal dominant		mondoexuq1wtf	alacrima, congenital|alacrimia congenita, autosomal dominant|alacrimia congenita											MESH:C566307|OMIM:103420																		owl:Class
MONDO:0019627	biolink:NamedThing	isolated congenital alacrima	Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	mondoexuq1wtf	nonsyndromic congenital alacrima											Orphanet:91416|ICD10:Q10.6|UMLS:C4273963|SCTID:717262004																		owl:Class
MONDO:0011514	biolink:NamedThing	tricuspid atresia	Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).	mondoexuq1wtf	tricuspid atresia|tricuspid valve atresia|congenital atresia of tricuspid valve|tricuspid atresia (disease)|congenital agenesis of the tricuspid valve		tricuspid atresia (disease)									MedDRA:10049767|ICD10:Q22.4|GARD:0005274|DOID:0080169|Orphanet:1209|OMIM:605067|NCIT:C85202|HP:0011662|MESH:D018785|SCTID:63042009|UMLS:C0243002																		owl:Class
MONDO:0100399	biolink:NamedThing	acute myeloid leukemia, t(3;3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	mondoexuq1wtf	AML, t(3;3)(q21;q26.2)|AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q21.3q26.2)|AML, t(3;3)(q26;q21)											NCIT:C122717																		owl:Class
MONDO:0018874	biolink:NamedThing	acute myeloid leukemia	Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.	mondoexuq1wtf	acute myelogenous leukemias|leukemia, myelocytic, acute|myeloid leukemia, acute|acute granulocytic leukemia|acute Nonlymphocytic leukemia|leukemia, acute myeloid, susceptibility to|acute myeloblastic leukemia|AML - acute myeloid leukemia|acute non lymphoblastic leukemia|acute myelogenous leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|acute myelocytic leukemia|leukemia, acute myelogenous|acute myeloid leukemia|ANLL|acute nonlymphocytic leukemia|AML|acute myeloid leukemia (AML)|leukemia, acute myeloid											NCIT:C3171|Orphanet:519|MedDRA:10000880|ICDO:9861/3|ICD10:C92.0|ICD10:C92.00|ICD9:205.00|GARD:0000537|DOID:9119|OMIM:601626|UMLS:C0023467|SCTID:91861009|ICD9:205.0|KEGG:05221|GARD:0012757|ONCOTREE:AML|EFO:0000222|MESH:D015470														https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia|https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia				owl:Class
MONDO:0700075	biolink:NamedThing	congenital muscular dystrophy caused by varation in POMGNT2	Any congenital muscular dystrophy in which the cause of the disease is a varation in the POMGNT2 gene.	mondoexuq1wtf	congenital muscular dystrophy caused by mutation in POMGNT2|congenital muscular dystrophy-POMGNT2 related							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0700069	biolink:NamedThing	myopathy caused by varation in POMGNT2	Any myopathy in which the cause of the disease is a varation in the POMGNT2 gene.	mondoexuq1wtf	POMGNT2 myopathy|myopathy caused by mutation in POMGNT2|POMGNT2-related myopathy							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0006827	biolink:NamedThing	lateral medullary syndrome	A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.	mondoexuq1wtf	Wallenberg syndrome|Wallenberg's syndrome|Vertebral artery syndrome|Lateral medullary syndrome|Posterior inferior cerebellar artery syndrome|PICA syndrome											UMLS:C0043019|DOID:3522|NCIT:C84807|ICD10:G46.3|EFO:1001011|SCTID:78569004|MESH:D014854|GARD:0009263|MedDRA:10024033|ICD9:437.1																		owl:Class
MONDO:0009479	biolink:NamedThing	Johanson-Blizzard syndrome	Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.	mondoexuq1wtf	nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-Blizzard syndrome|JBS|Johanson-BLIZZARD syndrome|pancreatic insufficiency, combined exocrine											EFO:0001063|MESH:C535880|UMLS:C1850081|MESH:C564907|OMIM:260450|DOID:14694|SCTID:75979009|Orphanet:2315|GARD:0000080|ICD10:Q87.8|UMLS:C0175692|OMIM:243800|ICD9:759.89																		owl:Class
MONDO:0007738	biolink:NamedThing	spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	mondoexuq1wtf	spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dislocations|spondyloepiphyseal dysplasia, Omani type|bifurcation of distal humerus with oligoectro-syndactyly|Humerospinal dysostosis|CHST3-related skeletal dysplasia|chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia with congenital JOINT dislocations|chondrodysplasia with congenital joint dislocations, CHST3 type|SDCD, CHST3 type|Omani type|humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer tink syndrome|spondyloepiphyseal dysplasia|SEDCJD|Gollop Coates syndrome											MESH:C537283|GARD:0002533|OMIM:143095|DOID:0050813|Orphanet:263463|SCTID:702400006|ICD9:756.9|ICD10:Q74.8														https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome				owl:Class
MONDO:0018292	biolink:NamedThing	congenital disorder of glycosylation-related bone disorder		mondoexuq1wtf	CDG-related bone disorder											ICD10:E77.8|Orphanet:371195																		owl:Class
MONDO:0010617	biolink:NamedThing	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	mondoexuq1wtf	Sohval-Soffer syndrome|hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies											MESH:C564406|ICD10:Q87.8|SCTID:722459008|Orphanet:2234|OMIM:307500																		owl:Class
MONDO:0005618	biolink:NamedThing	anxiety disorder	A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.	mondoexuq1wtf	anxiety disorder|anxiety state|anxiety											ICD9:300.09|ICD10:F41.9|SCTID:197480006|COHD:442077|NCIT:C2878|DOID:2030|MESH:D001008|EFO:0006788																		owl:Class
MONDO:0005084	biolink:NamedThing	mental disorder	A disease that has its basis in the disruption of mental process.	mondoexuq1wtf	mental process disease|disorder of mental process|mental or behavioural disorder											EFO:0000677|ICD10:F00.F99|ICD9:298.8|UMLS:CN240636|NIFSTD:birnlex_12669|SCTID:74732009|ICD9:V11.9|ICD9:290-299.99																		owl:Class
MONDO:0013531	biolink:NamedThing	PSPH deficiency	3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.	mondoexuq1wtf	3-phosphoserine phosphatase deficiency|PSPHD|phosphoserine phosphatase deficiency											OMIM:614023|SCTID:124432005|ICD10:E72.8|Orphanet:79350|UMLS:C1291463|DOID:0050724|ICD9:277.6																		owl:Class
MONDO:0018162	biolink:NamedThing	neurometabolic disorder due to serine deficiency	Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.	mondoexuq1wtf	serine deficiency											UMLS:CN227274|ICD10:E72.8|Orphanet:35705																		owl:Class
MONDO:0003929	biolink:NamedThing	vestibular micropapillomatosis	A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.	mondoexuq1wtf	vestibular micropapillomatosis|micropapillomatosis labialis											NCIT:C40290|DOID:6569|UMLS:C1519982																		owl:Class
MONDO:0002194	biolink:NamedThing	vestibular papilloma	A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.	mondoexuq1wtf	mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma											DOID:2071|NCIT:C6376|UMLS:C1336982																		owl:Class
MONDO:0008518	biolink:NamedThing	calcaneonavicular coalition	A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.	mondoexuq1wtf	calcaneonavicular coalition|synostoses, tarsal, carpal, and digital|multiple synostosis syndrome|synostoses, tarsal, carpal and digital											UMLS:C0175700|SCTID:62628008|GARD:0009863|MESH:C538156|OMIM:186400|DOID:14762|ICD9:755.8																		owl:Class
MONDO:0001411	biolink:NamedThing	synostosis	A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.	mondoexuq1wtf												MESH:D013580|DOID:11971																		owl:Class
MONDO:0020812	biolink:NamedThing	exposure, dental pulp	The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.	mondoexuq1wtf	Dental Pulp Exposure|PULP EXPOSURE DENT|EXPOSURE DENT PULP|Exposure, Dental Pulp|Pulp Exposure, Dental|DENT PULP EXPOSURE|Exposure of tooth pulp											UMLS:C0011406|MESH:D003789|EFO:1001782																		owl:Class
MONDO:0003394	biolink:NamedThing	dental pulp disease	A disease involving the dental pulp.	mondoexuq1wtf	dental pulp disease or disorder|disease of dental pulp|dental pulp disorder|disorder of dental pulp|disease or disorder of dental pulp|dental pulp disease|pulp disorder|disorder of pulp of tooth											NCIT:C34530|UMLS:C0011405|DOID:5330|SCTID:57203004|MESH:D003788|ICD9:522.9																		owl:Class
MONDO:0010396	biolink:NamedThing	developmental and epileptic encephalopathy, 2	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, type 2|early infantile epileptic encephalopathy caused by mutation in CDKL5|epileptic encephalopathy, early infantile, 2|DEE2|infantile spasm syndrome, X-linked 2|CDKL5 early infantile epileptic encephalopathy|EIEE2											DOID:0080467|MESH:C564064|OMIM:300672|Orphanet:505652|ICD10:G40.4|UMLS:C1839333																		owl:Class
MONDO:0015905	biolink:NamedThing	syndromic dyslipidemia	A inherited lipid metabolism disorder that is part of a larger syndrome.	mondoexuq1wtf	rare syndromic dyslipidemia|complex dyslipidemia|syndromic inherited lipid metabolism disorder|syndrome associated with inherited lipid metabolism disorder											Orphanet:181437|SCTID:109041000119107|UMLS:C3875286																		owl:Class
MONDO:0016063	biolink:NamedThing	Cowden disease		mondoexuq1wtf	MHAM|CD|Cowden's disease|Cowden disease|Cowden syndrome|multiple hamartoma syndrome|dysplastic gangliocytoma of cerebellum											MedDRA:10051906|MESH:D006223|GARD:0006202|NCIT:C3076|Orphanet:201|UMLS:C0018553|ICD10:Q85.8|OMIMPS:158350|DOID:6457|SCTID:58037000																		owl:Class
MONDO:0015185	biolink:NamedThing	intestinal polyposis syndrome		mondoexuq1wtf												UMLS:CN197525|SCTID:254589009|MedDRA:10057018|UMLS:C0345891|NCIT:C155954|Orphanet:104010																		owl:Class
MONDO:0016140	biolink:NamedThing	sarcoglycanopathy	Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.	mondoexuq1wtf	qualitative or quantitative defects of sarcoglycan											MESH:D058088|Orphanet:207052																		owl:Class
MONDO:0044971	biolink:NamedThing	disease of macromolecular complex		mondoexuq1wtf																														owl:Class
MONDO:0002654	biolink:NamedThing	uterine disease	A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.	mondoexuq1wtf	uterus disease or disorder|disease of uterus|disorder of uterus|uterus disease|uterine disease|disease or disorder of uterus|uterine disorder											SCTID:12337004|ICD9:621.8|DOID:345|MESH:D014591|ICD10:N85.9|NCIT:C26907|ICD9:621.9|UMLS:C0042131																		owl:Class
MONDO:0002263	biolink:NamedThing	female reproductive system disease	A disease involving the female reproductive system.	mondoexuq1wtf	female reproductive system disease or disorder|gynecological disease|female reproductive disease|disorder of female genital system|disease of female genital system|disorder of female reproductive system|female reproductive system disorder|disease or disorder of female reproductive system|female reproductive system disease|disease of female reproductive system|disorder of female genital tract											MESH:D005831|NCIT:C27020|DOID:229|SCTID:310789003|ICD9:629.9																		owl:Class
MONDO:0001586	biolink:NamedThing	mucopolysaccharidosis type 1	The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).	mondoexuq1wtf	MPS I|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|severe MPS I (subtype, also known as Hurler syndrome)|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|mucopolysaccharidosis, MPS-I|IDUA deficiency|mucopolysaccharidosis type I|lipochondrodystrophy|Hurler syndrome|MPS 1|mucopolysaccharidosis, type 1|MPS I - Hurler syndrome|Hurler-Scheie syndrome (subtype)|mucopolysaccharidosis I|MPS1|Hurler syndrome (subtype)|Alpha-L-iduronidase deficiency|mucopolysaccharidosis type 1|MPSI|iduronidase deficiency disease											GARD:0010335|ICD10:E76.0|DOID:12802|NCIT:C85053|SCTID:75610003|MedDRA:10056886|Orphanet:579																		owl:Class
MONDO:0019058	biolink:NamedThing	neurometabolic disease		mondoexuq1wtf												Orphanet:68385|UMLS:CN205539																		owl:Class
MONDO:0017609	biolink:NamedThing	renal tubular dysgenesis	Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.	mondoexuq1wtf	primitive renal tubule syndrome|renotubular dysgenesis											GARD:0000379|SCTID:702397002|ICD10:Q63.8|Orphanet:3033																		owl:Class
MONDO:0019720	biolink:NamedThing	non-syndromic renal or urinary tract malformation	A renal or urinary tract malformation that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic congenital anomaly of kidney and urinary tract|isolated congenital anomaly of kidney and urinary tract|nonsyndromic renal or urinary tract malformation|isolated renal or urinary tract malformation											Orphanet:93546																		owl:Class
MONDO:0013455	biolink:NamedThing	hypertrophic cardiomyopathy 16	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, type 16|CMH16|cardiomyopathy, familial hypertrophic, 16|cardiomyopathy familial hypertrophic 16|MYOZ2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYOZ2|hypertrophic cardiomyopathy type 16											DOID:0110322|UMLS:C3151204|OMIM:613838																		owl:Class
MONDO:0024573	biolink:NamedThing	familial hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.	mondoexuq1wtf	hereditary hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic|hypertrophic familial cardiomyopathy											GARD:0007229|NCIT:C84773|MESH:D024741|SCTID:471885006|OMIMPS:192600|DOID:0080326																		owl:Class
MONDO:0013456	biolink:NamedThing	constitutional megaloblastic anemia with severe neurologic disease		mondoexuq1wtf	megaloblastic anemia due to dihydrofolate reductase deficiency|dihydrofolate reductase deficiency|DHFR deficiency											ICD10:D52.8|OMIM:613839|Orphanet:319651|SCTID:124178006|MESH:C565095|GARD:0011000																		owl:Class
MONDO:0015656	biolink:NamedThing	metabolic disease with epilepsy		mondoexuq1wtf	metabolic diseases with epilepsy											UMLS:C1299598|Orphanet:166481																		owl:Class
MONDO:0017361	biolink:NamedThing	congenital rubella syndrome	An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.	mondoexuq1wtf	CRS|congenital rubella syndrome|rubella congenital|mother-to-child transmission of rubella syndrome|fetal rubella syndrome|congenital rubella											ICD10:P35.0|COHD:433869|MedDRA:10010618|Orphanet:290|SCTID:1857005|UMLS:C0035921|EFO:0007218|MESH:D012410|NCIT:C34992|ICD9:771.0|GARD:0004744																		owl:Class
MONDO:0004656	biolink:NamedThing	rubella	A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.	mondoexuq1wtf	Rubella virus infectious disease|three-Day Measles|Rubella virus disease or disorder|Rubella infection|german measles|three day measles|Rubella virus caused disease or disorder											ICD9:056|EFO:1002026|ICD10:B06|MESH:D012409|GARD:0004742|DOID:8781|SCTID:36653000|NCIT:C85051|UMLS:C0035920|ICD10:B06.9														https://rarediseases.info.nih.gov/diseases/4742/rubella				owl:Class
MONDO:0014399	biolink:NamedThing	ataxia-telangiectasia-like disorder 2		mondoexuq1wtf	PCNA-related progressive neurodegenerative photosensitivity syndrome|ataxia-telangiectasia-like disorder 2|ATLD2|ataxia-telangiectasia-like disorder type 2											OMIM:615919|UMLS:C4014676|Orphanet:438134|ICD10:G11.3																		owl:Class
MONDO:0007093	biolink:NamedThing	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.	mondoexuq1wtf	amelogenesis imperfecta type 4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type 4|amelogenesis imperfecta caused by mutation in DLX3|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AIHHT|AI4|amelogenesis imperfecta, type IV											DOID:0110053|Orphanet:100034|MESH:C566293|UMLS:C1863012|ICD10:K00.5|OMIM:104510																		owl:Class
MONDO:0019507	biolink:NamedThing	amelogenesis imperfecta	Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.	mondoexuq1wtf												ICD10:K00.5|OMIMPS:104500|GARD:0005791|DOID:2187|Orphanet:88661|CSP:0828-0533|ICD9:520.5|MESH:D000567|SCTID:78494001														https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta				owl:Class
MONDO:0007444	biolink:NamedThing	dermal Ridges, patternless		mondoexuq1wtf	dermal Ridges, patternless											MESH:C565109|UMLS:C1852160|OMIM:125540																		owl:Class
MONDO:0010752	biolink:NamedThing	VACTERL association, X-linked, with or without hydrocephalus		mondoexuq1wtf	VACTERL association with hydrocephaly, X-linked|VACTERL-H, X-linked|X-linked VACTERL-H syndrome|VACTERL association, X-linked, with or without hydrocephalus|VACTERLX											GARD:0008498|DOID:0111766|OMIM:314390|UMLS:C2931228																		owl:Class
MONDO:0100196	biolink:NamedThing	TPM2-related myopathy	A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.	mondoexuq1wtf	congenital myopathy related to TPM2|autosomal dominant TPM2-related myopathy|TPM2 myopathy					The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity.		http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0019952	biolink:NamedThing	congenital myopathy		mondoexuq1wtf	myopathy congenital|batten Turner congenital myopathy											Orphanet:97245|MedDRA:10062547|GARD:0005898|ICD10:G71.2|DOID:0080100																		owl:Class
MONDO:0016560	biolink:NamedThing	ptosis-syndactyly-learning difficulties syndrome		mondoexuq1wtf												Orphanet:238766|UMLS:CN201643																		owl:Class
MONDO:0011529	biolink:NamedThing	spinocerebellar ataxia type 13	Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.	mondoexuq1wtf	cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia type 13|spinocerebellar ataxia 13|autosomal dominant cerebellar ataxia with mental retardation|autosomal dominant cerebellar ataxia with intellectual disability|SCA13|cerebellar ataxia, autosomal dominant with intellectual disability											DOID:0050963|MESH:C537195|ICD10:G11.2|GARD:0009611|SCTID:719209002|UMLS:C1854488|Orphanet:98768|OMIM:605259|UMLS:C4304884																		owl:Class
MONDO:0005611	biolink:NamedThing	bladder transitional cell carcinoma	The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.	mondoexuq1wtf	urothelial carcinoma of the urinary bladder|urothelial bladder carcinoma|transitional cell carcinoma of the urinary bladder|bladder urothelial cancer|urinary bladder urothelial carcinoma|transitional cell carcinoma of bladder|BLCA|urinary bladder transitional cell carcinoma|bladder transitional cell carcinoma|bladder urothelial carcinoma											NCIT:C39851|EFO:0006544|DOID:4006|ONCOTREE:BLCA|SCTID:255109008|UMLS:C0279680																		owl:Class
MONDO:0004986	biolink:NamedThing	urinary bladder carcinoma	A carcinoma that arises from epithelial cells of the urinary bladder	mondoexuq1wtf	carcinoma of urinary bladder|carcinoma of the bladder|bladder carcinoma|cancer of the bladder|cancer of the urinary bladder|urinary bladder cancer|bladder cancer|carcinoma of the urinary bladder|urinary bladder carcinoma|cancer of bladder|carcinoma of bladder|cancer of urinary bladder|carcinoma bladder											NCIT:C4912|SCTID:255108000|UMLS:C0699885|HP:0002862|DOID:4007|EFO:0000292																		owl:Class
MONDO:0009131	biolink:NamedThing	Riley-Day syndrome	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.	mondoexuq1wtf	HSN 3|familial autonomic nervous dysfunction|neuropathy, hereditary sensory and autonomic, type III|hereditary sensory neuropathy type 3|Riley-Day syndrome|hereditary sensory and autonomic neuropathy 3|Riley Day syndrome|HSAN3|hereditary sensory and autonomic neuropathy type 3|HSAN III|hereditary sensory and autonomic neuropathy type III|dysautonomia, familial|neuropathy, hereditary sensory and autonomic, type 3|HSAN 3|familial dysautonomia											MedDRA:10039179|DOID:11589|NCIT:C84706|Orphanet:1764|SCTID:29159009|ICD10:G90.1|UMLS:C0013364|COHD:4104196|OMIM:223900|GARD:0007581|MESH:D004402																		owl:Class
MONDO:0021154	biolink:NamedThing	dermis disease	A disease that involves the dermis.	mondoexuq1wtf	disease of dermis|dermis disease or disorder|disease or disorder of dermis|other dermis disorder|disorder of dermis|dermis disease											UMLS:CN227618|Orphanet:79381																		owl:Class
MONDO:0007073	biolink:NamedThing	hypoglossia-hypodactyly syndrome	Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.	mondoexuq1wtf	Jussieu syndrome|hypoglossia-hypodactylia|peromelia with micrognathia|aglossia-adactylia|oromandibular limb hypoplasia|peromelia with micrognathism|aglossia-adactylia syndrome|Hanhart syndrome|aglossia adactylia|hypoglossia-hypodactylia syndrome											Orphanet:989|ICD10:Q87.2|SCTID:35031005|OMIM:103300|ICD9:759.89|GARD:0000068																		owl:Class
MONDO:0043007	biolink:NamedThing	genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome											Orphanet:330197																		owl:Class
MONDO:0018843	biolink:NamedThing	embryonal carcinoma of the central nervous system	A embryonal carcinoma that involves the central nervous system.	mondoexuq1wtf	embryonal carcinoma of CNS|central nervous system embryonal carcinoma|embryonal carcinoma|embryonal carcinoma of the central nervous system|embryonal carcinoma of the CNS											ICD10:C71.9|DOID:7232|Orphanet:48736|UMLS:C1333377|NCIT:C7010|ONCOTREE:BEC																		owl:Class
MONDO:0002714	biolink:NamedThing	central nervous system cancer	A malignant neoplasm involving the central nervous system	mondoexuq1wtf	malignant CNS neoplasm|malignant tumor of the CNS|cancer of the central nervous system|central nervous system neoplasms, malignant|malignant tumor of central nervous system|CNS cancer|cancer of central nervous system|malignant CNS neoplasms|malignant neoplasm of the CNS|cancer of CNS|malignant central nervous system tumor|malignant neoplasm of central nervous system|central nervous system cancer|malignant tumor of CNS|CNS malignant neoplasms|malignant central nervous system neoplasm|cancer of the CNS|malignant neoplasm of CNS|CNS neoplasms, malignant|malignant tumor of the central nervous system|central nervous system tumors|malignant CNS tumor|central nervous system tumor|malignant neoplasm of the central nervous system|CNS neoplasm											SCTID:126951006|ICD9:239.7|EFO:0000326|NCIT:C4627|ICD10:C72.9|MESH:D016543|DOID:3620																		owl:Class
MONDO:0021327	biolink:NamedThing	carcinoma of urethra	A carcinoma that involves the urethra.	mondoexuq1wtf	carcinoma of urethra|urethra carcinoma|urethral cancer|urethral carcinoma|carcinoma of the urethra											NCIT:C9106|SCTID:448954003																		owl:Class
MONDO:0004993	biolink:NamedThing	carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.	mondoexuq1wtf	carcinoma|Other carcinoma|malignant epithelial neoplasm|epithelial carcinoma|epithelioma|malignant epithelioma|epithelioma malignant|carcinoma, malignant|malignant epithelial tumor											SCTID:722688002|ICDO:8011/3|CSP:2000-1867|ICDO:8010/3|UMLS:C0007097|DOID:305|EFO:0000313|MESH:D002277|NCIT:C2916																		owl:Class
MONDO:0022841	biolink:NamedThing	congenital hypotrichosis milia		mondoexuq1wtf												GARD:0001488														https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia				owl:Class
MONDO:0003037	biolink:NamedThing	hypotrichosis	A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.	mondoexuq1wtf												ICD9:704.09|NCIT:C34720|OMIMPS:605389|MESH:D007039|DOID:4535|SCTID:53602002																		owl:Class
MONDO:0007450	biolink:NamedThing	neurohypophyseal diabetes insipidus	Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.	mondoexuq1wtf	Arginine vasopressin deficiency|pituitary diabetes insipidus|neurogenic diabetes insipidus|AVP deficiency|ADH deficiency|antidiuretic hormone deficiency|vasopressin defective diabetes insipidus|diabetes insipidus, primary central|vasopressin deficiency|hereditary central diabetes insipidus|hereditary CDI|diabetes insipidus of pituitary gland|diabetes insipidus, neurohypophyseal|pituitary gland diabetes insipidus|hereditary neurogenic diabetes insipidus|diabetes insipidus, cranial type											OMIM:125700|SCTID:45369008|NCIT:C84933|DOID:12388|Orphanet:30925|ICD10:E23.2																		owl:Class
MONDO:0000426	biolink:NamedThing	autosomal dominant disease	Autosomal dominant form of disease.	mondoexuq1wtf	disease, autosomal dominant|autosomal dominant hereditary disorder|autosomal dominant disease or disorder|disease or disorder, autosomal dominant|autosomal dominant inherited disorder											UMLS:C0265385|DOID:0050736|SCTID:11164009|ICD9:758.5																		owl:Class
MONDO:0000460	biolink:NamedThing	neural glioblastoma	A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.	mondoexuq1wtf	neural glioblastoma|glioblastoma neural subtype											NCIT:C111693|UMLS:C3828832|DOID:0050806																		owl:Class
MONDO:0018177	biolink:NamedThing	glioblastoma	The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)	mondoexuq1wtf	GBM|grade IV astrocytic tumor|glioblastoma (disease)|glioblastoma multiforme|glioblastoma multiforme (disease)|grade IV adult astrocytic tumor|grade IV astrocytic neoplasm|primary glioblastoma multiforme|GBM (glioblastoma)|giant cell glioblastoma (histologic variant)|glioblastoma|grade IV astrocytoma|WHO grade IV glioma|spongioblastoma multiforme|gliosarcoma (histologic variant)		glioblastoma (disease)									GARD:0002491|ONCOTREE:GB|MedDRA:10018336|MedDRA:10018337|UMLS:C1621958|HP:0100843|ICDO:9440/3|ICD10:C71.9|SCTID:393563007|NCIT:C3058|HP:0012174|UMLS:CN227279|DOID:3068|ONCOTREE:GBM|UMLS:C0017636|Orphanet:360																		owl:Class
MONDO:0007240	biolink:NamedThing	progressive familial heart block, type 1A	An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.	mondoexuq1wtf	progressive familial heart block type IA|SCN5A progressive familial heart block|Lenegre-Lev disease|progressive familial heart block type 1A|Lev disease|heart block, nonprogressive|heart block progressive familial type 1|hereditary bundle branch system defect|PFHB1A|progressive familial heart block caused by mutation in SCN5A|heart block, progressive familial, type 1|Lenegre's disease|Lenegre disease|Lenegre's syndrome|progressive familial heart block, type IA|Cardiac conduction defect, progressive|Cardiac conduction defect, nonprogressive					Editor note: consider separating aquired and inherited						COHD:313791|EFO:0004138|GARD:0001093|NCIT:C126651|MESH:D002037|DOID:0111074|OMIM:113900																		owl:Class
MONDO:0005449	biolink:NamedThing	conduction system disorder	A disease involving the conducting system of heart.	mondoexuq1wtf	disorder of conducting system of heart|conducting system of heart disease|conducting system of heart disease or disorder|disease or disorder of conducting system of heart|disease of conducting system of heart											EFO:0005137																		owl:Class
MONDO:0008515	biolink:NamedThing	syndactyly type 4	Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).	mondoexuq1wtf	syndactyly, type 4|non-syndromic syndactyly caused by mutation in LMBR1|Haas type syndactyly|polysyndactyly type Haas|polysyndactyly, Haas type|SDTY4|Sd4|syndactyly, type IV|LMBR1 non-syndromic syndactyly											GARD:0004434|SCTID:719158007|ICD10:Q70.4|UMLS:C1861355|OMIM:186200|Orphanet:93405|MESH:C566092														https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4				owl:Class
MONDO:0019530	biolink:NamedThing	non-syndromic syndactyly	A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.	mondoexuq1wtf	nonsyndromic syndactyly|syndactyly|webbing of digits|symphalangy|chromosome 2q35 duplication syndrome|symphalangism|isolated syndactyly					Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy						ICD10:Q70.9|ICD10:Q70.1|MedDRA:10042778|ICD10:Q70.2|ICD10:Q70.4|ICD10:Q70.0|UMLS:C0039075|Orphanet:90025|NCIT:C87125|ICD10:Q70.3																		owl:Class
MONDO:0008308	biolink:NamedThing	priapism, familial idiopathic		mondoexuq1wtf	familial idiopathic priapism|priapism, familial idiopathic											MESH:C531791|OMIM:176620|UMLS:C1867771|GARD:0010016																		owl:Class
MONDO:0015246	biolink:NamedThing	syndromic anorectal malformation	A anorectal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with anorectal malformation|syndromic anorectal malformation											Orphanet:117573|UMLS:CN226645																		owl:Class
MONDO:0100138	biolink:NamedThing	X-linked recessive mitochondrial myopathy	A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.	mondoexuq1wtf	X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features																													owl:Class
MONDO:0020605	biolink:NamedThing	X-linked recessive disease	X-linked recessive form of disease.	mondoexuq1wtf												DOID:0080012																		owl:Class
MONDO:0001792	biolink:NamedThing	epiphora due to insufficient drainage		mondoexuq1wtf												ICD9:375.22|ICD10:H04.22|SCTID:85042000|UMLS:C0155234|COHD:438156|DOID:13756																		owl:Class
MONDO:0001793	biolink:NamedThing	excessive tearing	Diseases of the lacrimal apparatus.	mondoexuq1wtf	lacrimal apparatus disease|apparatus disease, lacrimal|disease, lacrimal apparatus|excessive tear production|diseases, lacrimal apparatus|apparatus diseases, lacrimal|watering eye|epiphora											UMLS:C0152227|ICD10:H04.2|SCTID:193982009|ICD10:H04.20|MESH:D007766|DOID:13757|ICD9:375.2|ICD9:375.20|COHD:435553																		owl:Class
MONDO:0014317	biolink:NamedThing	pancytopenia-developmental delay syndrome		mondoexuq1wtf	bone marrow failure syndrome 2|bone marrow failure syndrome type 2|Trilineage bone marrow failure-developmental delay syndrome|BMFS2											UMLS:C3810350|ICD10:D61.0|Orphanet:401764|OMIM:615715																		owl:Class
MONDO:0000159	biolink:NamedThing	bone marrow failure syndrome		mondoexuq1wtf						Genetic heterogeneity of OMIM 614675 includes 615715.						DC:0000621|MESH:C536572|OMIMPS:614675|UMLS:C2931245																		owl:Class
MONDO:0005913	biolink:NamedThing	phlebotomus fever	Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.	mondoexuq1wtf	Sandfly-borne phleboviral disease|Sandfly-borne Bunyavirus fever|pappataci fever|Sandfly fever|Sandfly-borne arboviral fever											DOID:11360|ICD10:A93.1|SCTID:407476002|EFO:0007437|UMLS:C0030372|MESH:D010217|ICD9:066.0																		owl:Class
MONDO:0100120	biolink:NamedThing	vector-borne disease	An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.	mondoexuq1wtf	vector-borne infectious disease|vector-borne infection							http://orcid.org/0000-0001-5208-3432				https://orcid.org/0000-0002-2825-0621																		owl:Class
MONDO:0015411	biolink:NamedThing	facial cleft	A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.	mondoexuq1wtf	prosoposchisis|cleft face|craniofacial cleft											SCTID:92821006|Orphanet:141229|NCIT:C124510|ICD10:Q18.8																		owl:Class
MONDO:0020651	biolink:NamedThing	mixed germ cell tumor of vulva		mondoexuq1wtf												ONCOTREE:VMGCT																		owl:Class
MONDO:0001528	biolink:NamedThing	vulva cancer	A primary or metastatic malignant neoplasm involving the vulva.	mondoexuq1wtf	Ca vulva|malignant vulva neoplasm|mammalian vulva cancer|malignant tumor of the vulva|malignant vulvar neoplasm|neoplasm of vulva|malignant neoplasm of vulva, unspecified|vulvar cancer|malignant mammalian vulva neoplasm|malignant neoplasm of vulva|vulval cancer|vulval neoplasm|malignant neoplasm of mammalian vulva|malignant tumor of vulva|malignant vulvar tumor|malignant neoplasm of the vulva|malignant vulva tumor|cancer of mammalian vulva|malignant neoplasm of vulva unspecified											SCTID:363367000|ICD10:C51.9|GARD:0009349|NCIT:C7502|DOID:1245|ICD9:184.4|ICD10:C51|MESH:D014846																		owl:Class
MONDO:0003842	biolink:NamedThing	childhood cerebellar astrocytic neoplasm	Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.	mondoexuq1wtf	cerebellar astrocytoma|pediatric astrocytoma of cerebellum|cerebellar astrocytoma, childhood|pediatric cerebellar astrocytoma|childhood cerebellar astrocytoma|cerebellum childhood astrocytic tumor|cerebellum juvenile astrocytoma|pediatric astrocytoma of the cerebellum|childhood astrocytic tumor of cerebellum|childhood astrocytoma of cerebellum|childhood astrocytoma of the cerebellum											GARD:0009301|DOID:6286|UMLS:C0278594|NCIT:C6286																		owl:Class
MONDO:0003263	biolink:NamedThing	childhood cerebellar neoplasm	A neoplasm that affects the cerebellum and occurs during childhood.	mondoexuq1wtf	childhood cerebellar neoplasm|childhood tumor of the cerebellum|childhood cerebellar tumors|childhood cerebellar neoplasms|pediatric neoplasm of the cerebellum|pediatric neoplasm of cerebellum|childhood neoplasm of the cerebellum|pediatric tumor of the cerebellum|childhood cerebellar tumor|childhood tumor of cerebellum|childhood neoplasm of cerebellum|pediatric tumor of cerebellum|pediatric cerebellar neoplasm|pediatric cerebellar tumor											UMLS:C1332959|DOID:5059|NCIT:C5970																		owl:Class
MONDO:0006544	biolink:NamedThing	erythema infectiosum	A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.	mondoexuq1wtf	fifth disease											COHD:134569|NCIT:C84695|ICD10:B08.3|UMLS:C0085273|EFO:1000693|DOID:8743|ICD9:057.0|SCTID:34730008|MESH:D016731																		owl:Class
MONDO:0005108	biolink:NamedThing	viral infectious disease	Any disease caused by a virus.	mondoexuq1wtf	infections, Viruses|viral disease|Viruses infection|Viruses caused disease or disorder|virus infection|Viruses disease or disorder|viral infection|viral disorder|Viruses infectious disease|infection, viral											ICD9:066.9|NCIT:C3439|ICD10:B34.9|ICD9:060-066.99|MESH:D014777|SCTID:34014006|ICD10:B34|ICD9:079.99|DOID:934|EFO:0000763|ICD10:A94|COHD:440029|ICD9:078.89																		owl:Class
MONDO:0008719	biolink:NamedThing	acrorenal syndrome, autosomal recessive	Autosomal recessive form of acrorenal syndrome.	mondoexuq1wtf	Curran syndrome|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive|acrorenal syndrome recessive|autosomal recessive acrorenal syndrome											OMIM:201310|UMLS:C0796290|MESH:C535666|GARD:0000514																		owl:Class
MONDO:0006025	biolink:NamedThing	autosomal recessive disease	Autosomal recessive form of disease.	mondoexuq1wtf	recessive hereditary disorder (autosomal)|autosomal recessive hereditary disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease|disease or disorder, autosomal recessive|autosomal recessive disease or disorder|disease, autosomal recessive|autosomal recessive inherited disorder											EFO:1000017|ICD9:758.5|SCTID:85995004|DOID:0050737|UMLS:C0265388																		owl:Class
MONDO:0020798	biolink:NamedThing	hypoparathyroidism, familial isolated, 2		mondoexuq1wtf	FIH2|hypoparathyroidism, familial isolated, 2											OMIM:618883																		owl:Class
MONDO:0016390	biolink:NamedThing	familial hypoparathyroidism	A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.	mondoexuq1wtf	familial isolated hypoparathyroidism|hypoparathyroidism, familial isolated|FIH|hypoparathyroidism, familial|hypoparathyroidism familial isolated											UMLS:C1832648|GARD:0002910|ICD10:E20.8|SCTID:725036000|Orphanet:2238|DOID:0111387|OMIMPS:146200|MESH:C537156																		owl:Class
MONDO:0002546	biolink:NamedThing	schwannoma	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	mondoexuq1wtf	schwannoma|schwannoma (WHO grade I)|neurilemmoma|peripheral fibroblastoma|neurinoma|benign schwannoma|benign neurilemmoma|psammomatous schwannoma|SCHW|schwannoma, benign|neurolemmoma											UMLS:C0027809|DOID:955|UMLS:CN202001|DOID:3192|GARD:0004767|EFO:0000693|Orphanet:252164|NCIT:C3269|MedDRA:10029235|SCTID:404022001|ICDO:9560/0|ICD9:215.9|ONCOTREE:SCHW|MedDRA:10029234														https://rarediseases.info.nih.gov/diseases/4767/schwannoma				owl:Class
MONDO:0016752	biolink:NamedThing	benign peripheral nerve sheath tumor		mondoexuq1wtf	BPNST					Editor note: consider relationship to granular cell tumor						UMLS:CN202000|Orphanet:252131																		owl:Class
MONDO:0014426	biolink:NamedThing	nanophthalmos 4	Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.	mondoexuq1wtf	nanophthalmos type 4|NNO4|TMEM98 nanophthalmia|Nanophthalmia 4|nanophthalmos 4|nanophthalmia caused by mutation in TMEM98											OMIM:615972|UMLS:C4014848																		owl:Class
MONDO:0005514	biolink:NamedThing	nanophthalmia	Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	mondoexuq1wtf												Orphanet:35612|OMIMPS:600165|DOID:0080634|SCTID:716775009																		owl:Class
MONDO:0009578	biolink:NamedThing	neurocutaneous melanocytosis	Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.	mondoexuq1wtf	NCM|NCMS|Neuromelanosis|melanosis, neurocutaneous|neurocutaneous melanosis syndrome|neurocutaneous melanosis											ICD10:D22.3|OMIM:249400|MESH:C537387|GARD:0007186|ICD10:D22.4|ICD10:D22.6|ICD10:D22.7|ICD10:D22.5|Orphanet:2481																		owl:Class
MONDO:0000648	biolink:NamedThing	nervous system benign neoplasm	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).	mondoexuq1wtf	benign nervous system neoplasm|nervous system benign neoplasm|benign neoplasm of the nervous system|benign tumor of nervous system|benign neoplasm of nervous system|benign tumor of the nervous system|nervous system neoplasm, benign|benign nervous system tumor											UMLS:C0497550|ICD9:225.8|NCIT:C4789|COHD:373432|DOID:0060115|ICD9:225.9|SCTID:92247009																		owl:Class
MONDO:0018150	biolink:NamedThing	Gaucher disease	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).	mondoexuq1wtf	Gaucher disease|glucosylceramidase deficiency|Gaucher syndrome|glucosyl cerebroside lipidosis|kerasin lipoidosis|acid beta-glucosidase deficiency|kerasin thesaurismosis|glucocerebrosidosis|sphingolipidosis 1|Gaucher's disease|lipoid histiocytosis (kerasin type)|acute cerebral Gaucher disease|glocucerebrosidase deficiency|kerasin histiocytosis|glucocerebrosidase deficiency|lipoid histiocytosis|glucosylceramide beta-glucosidase deficiency|Gaucher splenomegaly|cerebroside lipidosis syndrome											UMLS:C0017205|NCIT:C61268|MESH:D005776|DOID:1926|Orphanet:355|GARD:0008233|SCTID:190794006|ICD10:E75.2|MedDRA:10018048|ICD10:E75.22																		owl:Class
MONDO:0019255	biolink:NamedThing	sphingolipidosis	An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.	mondoexuq1wtf	sphingolipidoses											GARD:0007672|UMLS:C0037899|ICD10:E75.1|MESH:D013106|DOID:1927|SCTID:238028008|ICD10:E75.0|NCIT:C117254|Orphanet:79225|ICD10:E75.3|ICD10:E75.2														https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis				owl:Class
MONDO:0002188	biolink:NamedThing	vulvar nodular hidradenoma	A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.	mondoexuq1wtf	vulvar nodular hidradenoma|mammalian vulva nodular hidradenoma|nodular hidradenoma of mammalian vulva											DOID:2060|NCIT:C40312|UMLS:C1520091																		owl:Class
MONDO:0002189	biolink:NamedThing	nodular hidradenoma	A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.	mondoexuq1wtf	eccrine nodular hidradenoma|nodular hidradenoma|solid and cystic hidradenoma											SCTID:253020008|NCIT:C7568|DOID:2061|ICDO:8402/0																		owl:Class
MONDO:0002034	biolink:NamedThing	cecum lymphoma	An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.	mondoexuq1wtf	primary cecum lymphoma|lymphoma of cecum|cecal lymphoma|lymphoma of the cecum|lymphoma of caecum|caecum lymphoma|cecum lymphoma											NCIT:C5515|UMLS:C1332867|DOID:1522																		owl:Class
MONDO:0002033	biolink:NamedThing	cecum cancer	A malignant neoplasm involving the caecum	mondoexuq1wtf	caecum cancer|malignant caecum neoplasm|malignant neoplasm of caecum|cancer of caecum|malignant cecum neoplasm|malignant tumor of the cecum|malignant neoplasm of the cecum|malignant cecum tumor|malignant tumor of cecum|malignant neoplasm of cecum											DOID:1521|NCIT:C9329|ICD10:C18.0|COHD:443391|ICD9:153.4|UMLS:C0153437																		owl:Class
MONDO:0017470	biolink:NamedThing	congenital knee dislocation		mondoexuq1wtf	congenital knee dislocation (disease)|congenital knee dislocation		congenital knee dislocation (disease)									SCTID:59068006|ICD9:754.41|ICD10:Q68.2|HP:0005191|MedDRA:10010520|Orphanet:295034																		owl:Class
MONDO:0017430	biolink:NamedThing	non-syndromic congenital joint dislocations		mondoexuq1wtf	congenital joint dislocations											Orphanet:294951																		owl:Class
MONDO:0006660	biolink:NamedThing	arthus reaction	A localized vasculitis resulting from deposition of antibody-antigen complexes.	mondoexuq1wtf	arthus type urticaria|arthus phenomenon|arthus reaction|arthus reaction (function)					Editor note: DO classifies as type III, NCIT as type I						ICD10:T78.41|EFO:1000821|ICD9:708.8|ICD9:995.21|MedDRA:10003420|DOID:1556|MESH:D001183|UMLS:C0003907|SCTID:402413008|NCIT:C34400																		owl:Class
MONDO:0007004	biolink:NamedThing	type III hypersensitivity disease	Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.	mondoexuq1wtf	type III hypersensitivity reaction|hypersensitivity reaction type III disease|type 3 hypersensitivity reaction|immune complex disease|disorder of type III hypersensitivity|type III hypersensitivity											NCIT:C114346|EFO:1001222|MESH:D007105|UMLS:C0020951|DOID:1557|MedDRA:10045265																		owl:Class
MONDO:0009515	biolink:NamedThing	Norum disease	Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.	mondoexuq1wtf	FLD|lecithin acyltransferase deficiency|LCAT deficiency|complete LCAT deficiency|Norum disease|lecithin:cholesterol acyltransferase deficiency|familial LCAT deficiency											SCTID:238091006|ICD10:E78.6|GARD:0004011|NCIT:C84813|Orphanet:79293|OMIM:245900|UMLS:CN205883|DOID:1391																		owl:Class
MONDO:0018999	biolink:NamedThing	LCAT deficiency	LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.	mondoexuq1wtf	lecithin-cholesterol acyltransferase deficiency											Orphanet:650|SCTID:49227001|ICD10:E78.6																		owl:Class
MONDO:0012540	biolink:NamedThing	age related macular degeneration 4	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.	mondoexuq1wtf	ARMD4|macular degeneration, age-related, 4|age related macular degeneration type 4|CFH age-related macular degeneration|macular Degeneration, age-related, type 4|age-related macular degeneration caused by mutation in CFH											MESH:C565196|OMIM:610698|DOID:0110017|UMLS:C1853147																		owl:Class
MONDO:0005150	biolink:NamedThing	age-related macular degeneration	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	mondoexuq1wtf	ARMD|age related macular degeneration|age related Maculopathies|macular degeneration, age-related|age-related macular degeneration|age related maculopathy|AMD|Senile macular retinal degeneration|Senile macular degeneration											SCTID:267718000|NCIT:C84391|EFO:0001365|NIFSTD:birnlex_12812|ICD9:362.50|COHD:374028|Orphanet:279|UMLS:C0242383|ICD10:H35.30|DOID:10871|OMIMPS:603075																		owl:Class
MONDO:0017165	biolink:NamedThing	bile acid CoA ligase deficiency and defective amidation	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	mondoexuq1wtf												Orphanet:276066|SCTID:717047007|UMLS:C4274079																		owl:Class
MONDO:0015581	biolink:NamedThing	bile acid synthesis defect with cholestasis and malabsorption		mondoexuq1wtf												ICD10:K76.8|Orphanet:163631																		owl:Class
MONDO:0013090	biolink:NamedThing	chromosome 19q13.11 deletion syndrome	The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	mondoexuq1wtf	chromosome 19q13.11 deletion syndrome|Del(19)(q13.11)|chromosome 19Q13.11 deletion syndrome, distal|chromosome 19q13.11 deletion syndrome, distal|monosomy 19q13.11|19q13.11 microdeletion syndrome											Orphanet:217346|MESH:C567810|UMLS:C2751651|SCTID:719599008|UMLS:C4304577|DOID:0060408|GARD:0010592|OMIM:613026|ICD10:Q93.5														https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome				owl:Class
MONDO:0021069	biolink:NamedThing	malignant endocrine neoplasm	A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.	mondoexuq1wtf	malignant endocrine gland neoplasm|Endocrine tumor|neoplasm of endocrine system|malignant neoplasm of the endocrine gland|endocrine neoplasm|malignant endocrine gland tumor|endocrine neoplasm, malignant|malignant tumor of endocrine gland|malignant endocrine tumor|endocrine gland cancer|endocrine cancer|malignant tumour of endocrine gland|malignant endocrine neoplasm|malignant tumor of the endocrine gland|cancer of endocrine gland|malignant neoplasm of endocrine gland											ICD10:C75.9|ICD9:194.9|NCIT:C3575|MESH:D004701|DOID:170																		owl:Class
MONDO:0004992	biolink:NamedThing	cancer	A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	mondoexuq1wtf	malignant neoplastic disease|MT|organ system cancer|cancer|malignant neoplasm (disease)|malignant Growth|malignant neoplasm|CA|malignancy|malignant tumor|primary cancer|neoplasm, malignant|neoplasm (disease), malignant|cell type cancer											DOID:162|NIFSTD:birnlex_406|SCTID:363346000|COHD:443392|EFO:0000311|ICD9:199.1|GARD:0011960|DOID:0050686|ICD10:C80.1|ICDO:8000/3|NCIT:C9305|DOID:0050687|UMLS:C0006826|ICD10:C80|ICD9:199|ICD9:195.8|ONCOTREE:MT																		owl:Class
MONDO:0022963	biolink:NamedThing	desmoplastic infantile astrocytoma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	mondoexuq1wtf	Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy|DIA											UMLS:C0457179|ONCOTREE:DIA|NCIT:C9476|GARD:0009617|ICDO:9412/1														https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma				owl:Class
MONDO:0016729	biolink:NamedThing	mixed neuronal-glial tumor	A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)	mondoexuq1wtf	neuronal and Glio-neuronal neoplasm|neuronal and Glio-neuronal tumor|neuronal and mixed neuronal-glial tumor|neuronal and mixed neuronal-glial tumors											UMLS:CN201977|UMLS:C0474844|Orphanet:251934|NCIT:C4747																		owl:Class
MONDO:0004188	biolink:NamedThing	iris spindle cell melanoma	A spindle cell melanoma that involves the iris.	mondoexuq1wtf	spindle cell melanoma of the iris|iris spindle cell melanoma|spindle cell melanoma of iris											DOID:7328|NCIT:C6098|UMLS:C1334287																		owl:Class
MONDO:0003744	biolink:NamedThing	spindle cell intraocular melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.	mondoexuq1wtf	spindle cell melanoma of uvea|uveal spindle cell melanoma|spindle cell melanoma of the uvea|spindle cell uveal melanoma											DOID:6037|UMLS:C0279687|NCIT:C7986																		owl:Class
MONDO:0013154	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.	mondoexuq1wtf	muscle-eye-brain-POMT2 related|MDDGA2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related											OMIM:613150|DOID:0111240|UMLS:C3150411|NCIT:C126742																		owl:Class
MONDO:0000171	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type A		mondoexuq1wtf	hydrocephalus-agyria-retinal dysplasia syndrome|Pagon syndrome|hard +/- E syndrome|cerebroocular dysgenesis|WWS|hard syndrome|hydrocephalus, agyria and retinal dysplasia|Warburg syndrome|Chemke syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|cerebroocular dysplasia muscular dystrophy syndrome|Walker-Warburg muscular dystrophy|Walker-Warburg syndrome											DC:0000659|OMIMPS:236670|NCIT:C99109|SCTID:111504002|UMLS:CN239483|MESH:D058494|GARD:0002599|ICD10:Q04.3|Orphanet:899|DOID:0050560																		owl:Class
MONDO:0032764	biolink:NamedThing	Khan-Khan-Katsanis syndrome		mondoexuq1wtf	3K Syndrome|3KS|KHAN-KHAN-KATSANIS SYNDROME											OMIM:618460																		owl:Class
MONDO:0041284	biolink:NamedThing	primary motor cortex epilepsy	A epilepsy that involves the primary motor cortex.	mondoexuq1wtf	epilepsy of primary motor cortex|Jacksonian epilepsy|primary motor cortex epilepsy|motor cortex epilepsy					Editor note: TODO. Request Jacksonian seizures from HP?						SCTID:267592003|UMLS:C0234978																		owl:Class
MONDO:0044996	biolink:NamedThing	cerebral cortex disease	A disease or disorder that involves the cerebral cortex.	mondoexuq1wtf	disease of cerebral cortex|disease or disorder of cerebral cortex|disorder of cerebral cortex|cerebral cortex disease|cerebral cortex disease or disorder											UMLS:C1263847|SCTID:128128003																		owl:Class
MONDO:0013144	biolink:NamedThing	antithrombin III deficiency	A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.	mondoexuq1wtf	inherited antithrombin deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|hereditary antithrombin deficiency|thrombophilia due to antithrombin III deficiency|AT3D|antithrombin III deficiency|congenital AT-III deficiency|thrombophilia due to antithrombin 3 deficiency|AT III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|antithrombin 3 deficiency|congenital antithrombin III deficiency											ICD10:D68.5|ICD10:D68.59|GARD:0006148|DOID:3755|MESH:D020152|OMIM:613118|SCTID:36351005|NCIT:C98815|Orphanet:82|ICD9:286.9|UMLS:C0272375																		owl:Class
MONDO:0100240	biolink:NamedThing	inherited thrombophilia	An instance of thrombophilia that is inherited.	mondoexuq1wtf	hereditary thrombophilia							http://orcid.org/0000-0001-5208-3432				OMIMPS:188050																		owl:Class
MONDO:0008595	biolink:NamedThing	trichoepitheliomas, multiple desmoplastic		mondoexuq1wtf	trichoepitheliomas, multiple desmoplastic											MESH:C566034|UMLS:C1860849|OMIM:190345																		owl:Class
MONDO:0012839	biolink:NamedThing	pyogenic bacterial infections due to MyD88 deficiency	Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.	mondoexuq1wtf	MyD88 deficiency|MYD88D|recurrent pyogenic bacterial infections due to MyD88 deficiency|pyogenic bacterial infections, recurrent, due to MyD88 deficiency											UMLS:C2677092|GARD:0012638|ICD10:D84.8|MESH:C567379|OMIM:612260|Orphanet:183713																		owl:Class
MONDO:0015979	biolink:NamedThing	hereditary predisposition to infections		mondoexuq1wtf	genetic susceptibility to infections due to particular pathogens					Editor note: todo logical definition						Orphanet:183710|ICD10:D84.8																		owl:Class
MONDO:0015528	biolink:NamedThing	congenital epulis	A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.	mondoexuq1wtf	gingival granular cell tumor|congenital Epulides|congenital epulis|congenital granular cell tumor|congenital gingival cell tumor|Neumann tumor											SCTID:360525006|DOID:7280|Orphanet:157826|UMLS:C0376319|NCIT:C4675|MESH:D005887																		owl:Class
MONDO:0006499	biolink:NamedThing	hamartoma	A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.	mondoexuq1wtf	hamartoma (disease)|hamartoma		hamartoma (disease)									HP:0010566|UMLS:C0018552|MESH:D006222|EFO:1000634|SCTID:400006008|ICD9:759.6|NCIT:C3075																		owl:Class
MONDO:0008004	biolink:NamedThing	familial mitral valve prolapse	An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary mitral valve prolapse (disease)|MVP|mitral valve prolapse, familial, autosomal dominant|mitral valve prolapse, familial											GARD:0003687|SCTID:233858000|OMIMPS:157700|Orphanet:741|ICD10:I34.1																		owl:Class
MONDO:0042966	biolink:NamedThing	inherited mitral valve disease	An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	congenital mitral valve abnormality|congenital malformation of mitral valve|hereditary mitral valve disease|congenital anomaly of mitral valve											SCTID:75372006																		owl:Class
MONDO:0036976	biolink:NamedThing	benign epithelial neoplasm	A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.	mondoexuq1wtf	benign neoplasm of the epithelium|benign epithelioma|benign epithelial neoplasm|epithelial neoplasm, benign|benign tumor of epithelium|benign neoplasm of epithelium|benign tumor of the epithelium|benign epithelial tumor|epithelioma, benign											UMLS:C0334232|ICDO:8011/0|ICDO:8010/0|NCIT:C4092																		owl:Class
MONDO:0005626	biolink:NamedThing	epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.	mondoexuq1wtf	epithelial neoplasm|epithelioma											EFO:0006858|MESH:D009375|SCTID:118285006|NCIT:C3709																		owl:Class
MONDO:0002843	biolink:NamedThing	fungal gastritis	Gastritis resulting from fungi.	mondoexuq1wtf	fungal gastritis|Fungi caused gastritis (disease)|Fungi gastritis (disease)											SCTID:723097009|DOID:4034|NCIT:C27342|UMLS:C0948638																		owl:Class
MONDO:0043424	biolink:NamedThing	digestive system infectious disease	A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.	mondoexuq1wtf	digestive system infection|infection of gastrointestinal tract|gastrointestinal infection|gastrointestinal system infection											NCIT:C35503|SCTID:715852004																		owl:Class
MONDO:0001395	biolink:NamedThing	macular keratitis		mondoexuq1wtf												ICD10:H16.11|ICD9:370.22|DOID:11871|SCTID:2853006|UMLS:C0155076																		owl:Class
MONDO:0003085	biolink:NamedThing	keratitis	A corneal disease that is characterized by inflammation of the cornea.	mondoexuq1wtf	cornea inflammation|inflammation of cornea											ICD9:370|ICD9:370.9|SCTID:5888003|ICD9:370.8|ICD10:H16|NCIT:C26805|COHD:374035|ICD10:H16.9|DOID:4677|MESH:D007634|UMLS:C0022568																		owl:Class
MONDO:0003340	biolink:NamedThing	malignant glomus tumor	A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.	mondoexuq1wtf	malignant glomus neoplasm|glomus tumor, malignant|malignant glomus tumor|glomangiosarcoma											ICDO:8711/3|ICDO:8710/3|ONCOTREE:MGST|NCIT:C4221|UMLS:C1266111|DOID:5233																		owl:Class
MONDO:0004958	biolink:NamedThing	oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.	mondoexuq1wtf	mouth scc|scc of oral cavity|oral cavity squamous cell cancer|squamous cell carcinoma of the mouth|squamous cell carcinoma of mouth|oral cavity scc|scc of the mouth|squamous cell carcinoma of the oral cavity|squamous cell carcinoma of oral cavity|OCSC|scc of mouth|oral squamous cell carcinoma|scc of the oral cavity|oral cavity squamous cell carcinoma|mouth squamous cell carcinoma											Orphanet:502363|SCTID:307502000|ONCOTREE:OCSC|GARD:0007263|NCIT:C4833|EFO:0000199|UMLS:C0585362|DOID:0050866														https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma				owl:Class
MONDO:0044710	biolink:NamedThing	lip and oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.	mondoexuq1wtf	lip/oral cavity squam. cell car.|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma|lip and oral cavity squamous cell cancer											UMLS:C0280297|Orphanet:502369|NCIT:C42690																		owl:Class
MONDO:0013580	biolink:NamedThing	pyruvate dehydrogenase E1-beta deficiency	Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.	mondoexuq1wtf	pyruvate dehydrogenase E1-BETA deficiency|PDHBD|pyruvate dehydrogenase complex E1 component subunit beta deficiency|pyruvate dehydrogenase E1-beta deficiency											ICD10:E74.4|UMLS:C3279841|Orphanet:255138|MESH:C566729|OMIM:614111																		owl:Class
MONDO:0021093	biolink:NamedThing	cranioectodermal dysplasia 1	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.	mondoexuq1wtf	CED1|cranioectodermal dysplasia 1|Levin syndrome 1|IFT122 cranioectodermal dysplasia|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|Sensenbrenner syndrome											OMIM:218330																		owl:Class
MONDO:0009032	biolink:NamedThing	cranioectodermal dysplasia	Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).	mondoexuq1wtf	Sensenbrenner syndrome|CED|cranioectodermal dysplasia|Levin syndrome											UMLS:C0432235|ICD9:756.9|DOID:0050577|UMLS:CN119432|Orphanet:1515|NCIT:C129305|OMIMPS:218330|ICD10:Q87.5|SCTID:254093009|UMLS:CN016627|GARD:0000359																		owl:Class
MONDO:0004745	biolink:NamedThing	priapism	Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.	mondoexuq1wtf	Mentulagra											SCTID:6273006|COHD:315586|UMLS:C0033117|Orphanet:140949|MESH:D011317|ICD9:607.3|ICD10:N48.3|DOID:9286|ICD10:N48.30																		owl:Class
MONDO:0005294	biolink:NamedThing	peripheral vascular disease	Any disorder affecting blood flow through the veins or arteries outside of the heart.	mondoexuq1wtf	peripheral vascular disorder|disease, peripheral vascular|arterial occlusive disease|vascular disease, peripheral											EFO:0003875|DOID:341|ICD9:443.81|NCIT:C35136|COHD:321052|MESH:D016491																		owl:Class
MONDO:0002571	biolink:NamedThing	primary central nervous system lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.	mondoexuq1wtf	central nervous system lymphoma|primary lymphoma, CNS|primary brain lymphoma|malignant lymphomas of CNS|primary central nervous system lymphoma|malignant lymphomas of the CNS|microglioma|PCNSL|primary CNS lymphoma|CNS lymphoma|lymphoma of central nervous system										MONDO:0018732	Orphanet:46135|ICD9:200.5|GARD:0009318|ONCOTREE:PCNSL|ICD10:C83.3|NCIT:C9301|COHD:373152|MedDRA:10036685|EFO:1000157|DOID:3234|UMLS:C0742472|SCTID:307649006																		owl:Class
MONDO:0000621	biolink:NamedThing	immune system cancer	A malignant neoplasm involving the immune system	mondoexuq1wtf	immune system cancer|cancer of immune system|malignant neoplasm of immune system|malignant immune system neoplasm											DOID:0060083																		owl:Class
MONDO:0000337	biolink:NamedThing	exanthema subitum	An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.	mondoexuq1wtf	roseola|sixth disease|pseudorubella|roseola Infantum|exanthem subitum											UMLS:C0015231|SCTID:54385001|EFO:1001320|ICD10:B08.2|DOID:0050495|NCIT:C128420|ICD9:057.8|ICD9:058.10|MESH:D005077|UMLS:C0595993|ICD10:B08.20|COHD:135745|ICD9:058.1																		owl:Class
MONDO:0006412	biolink:NamedThing	sinus histiocytosis with massive lymphadenopathy	A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.	mondoexuq1wtf	RDD|Rosai-Dorfman disease											SCTID:34287003|MESH:D015618|ICD9:277.89|NCIT:C36075|EFO:1000528|GARD:0007588																		owl:Class
MONDO:0005833	biolink:NamedThing	lymphatic system disease	A disease involving the lymphatic part of lymphoid system.	mondoexuq1wtf	lymphatic disorder|disorder of lymphatic part of lymphoid system|lymphangiopathy|lymphatic disease|swollen glands|glands, swollen|adenopathy|disorder of lymphoid system|disorder of lymph node and lymphatics|disease or disorder of lymphatic part of lymphoid system|disease of lympoid system|swollen gland|lymphatic part of lymphoid system disease or disorder|lymphatic part of lymphoid system disease|lympoid system disease|disease of lymphatic part of lymphoid system|lymphadenopathy|disorder of lymphatic system					Editor note: check alignment to anatomy, consider lymphoid system disease						NCIT:C50764|UMLS:C0024228|EFO:0007352|MESH:D008206|DOID:75|SCTID:362971004																		owl:Class
MONDO:0002199	biolink:NamedThing	benign mixed tumor of the vulva	A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.	mondoexuq1wtf	chondroid syringoma of the vulva|benign mixed tumor of the vulva											NCIT:C40302|UMLS:C1511091|DOID:2078																		owl:Class
MONDO:0000643	biolink:NamedThing	vulvar benign neoplasm	A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.	mondoexuq1wtf	benign vulva tumor|mammalian vulva benign neoplasm|benign neoplasm of vulva|vulva benign neoplasm|benign vulvar tumor|benign tumor of the vulva|benign vulva neoplasm|benign vulval neoplasm|benign tumor of vulva|benign vulvar neoplasm|benign neoplasm of the vulva											NCIT:C3611|COHD:438390|UMLS:C0154003|SCTID:92486005|DOID:0060109																		owl:Class
MONDO:0014542	biolink:NamedThing	congenital myasthenic syndrome 15	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.	mondoexuq1wtf	CMS15|ALG14 congenital myasthenic syndrome|myasthenic syndrome, congenital, without tubular aggregates|congenital myasthenic syndrome type 15|myasthenic syndrome, congenital, 15|congenital myasthenic syndrome caused by mutation in ALG14|myasthenic syndrome, congenital, type 15|congenital myasthenic syndrome 15 without tubular aggregates											OMIM:616227|UMLS:C4015596|DOID:0110658																		owl:Class
MONDO:0018144	biolink:NamedThing	congenital myasthenic syndromes with glycosylation defect		mondoexuq1wtf												Orphanet:353327|ICD10:G70.2																		owl:Class
MONDO:0014643	biolink:NamedThing	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome		mondoexuq1wtf	BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome											Orphanet:464738|OMIM:616449|UMLS:C4225323																		owl:Class
MONDO:0044916	biolink:NamedThing	extrarenal rhabdoid tumor	A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.	mondoexuq1wtf	malignant extrarenal rhabdoid neoplasm|rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor											UMLS:C1304517|SCTID:404089007|NCIT:C6586																		owl:Class
MONDO:0002728	biolink:NamedThing	rhabdoid tumor	An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.	mondoexuq1wtf	rhabdoid tumor|rhabdoid cancer|rhabdoid sarcoma|malignant rhabdoid tumor|malignant rhabdoid tumour											DOID:3672|Orphanet:69077|ICDO:8963/3|GARD:0007572|NCIT:C3808|MESH:D018335|EFO:0005701|ONCOTREE:MRT|UMLS:C0206743|ICD10:C49.9																		owl:Class
MONDO:0003592	biolink:NamedThing	gastric liposarcoma	A malignant adipose tissue neoplasm of the stomach.	mondoexuq1wtf	liposarcoma of stomach|stomach liposarcoma|gastric liposarcoma|liposarcoma of the stomach											UMLS:C1333778|NCIT:C5488|DOID:5700																		owl:Class
MONDO:0005060	biolink:NamedThing	liposarcoma	A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.	mondoexuq1wtf	liposarcoma, malignant|liposarcoma|sarcoma of lip|lip sarcoma											GARD:0006913|ICDO:8850/3|MedDRA:10024627|DOID:3382|ONCOTREE:LIPO|Orphanet:69078|ICD10:C49.9|SCTID:254829001|EFO:0000569|MESH:D008080|UMLS:C0023827|ICD9:171.9|NCIT:C3194														https://rarediseases.info.nih.gov/diseases/6913/liposarcoma				owl:Class
MONDO:0015072	biolink:NamedThing	liver neuroendocrine carcinoma	An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.	mondoexuq1wtf	liver neuroendocrine carcinoma|liver neuroendocrine cancer|neuroendocrine carcinoma of liver|primary hepatic neuroendocrine carcinoma|PHNEC|primary liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|HNEC											Orphanet:100085|UMLS:CN197365|UMLS:C3273031|ICD10:C22.7|NCIT:C96787|SCTID:716652006																		owl:Class
MONDO:0018531	biolink:NamedThing	carcinoma of liver and intrahepatic biliary tract	A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.	mondoexuq1wtf	liver cancer|liver and intrahepatic bile duct carcinoma|cancer of liver|cancer of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract carcinoma|liver carcinoma|cancer of liver and intrahepatic biliary tract|carcinoma of liver|hepatic cancer|cancer of the liver|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|carcinoma of liver and IBT|liver and intrahepatic bile duct cancer|liver/hepatobiliary cancer|liver and intrahepatic biliary tract cancer|primary liver carcinoma					Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper						UMLS:C0279000|ONCOTREE:HCCIHCH|NCIT:C7927|Orphanet:424936																		owl:Class
MONDO:0016178	biolink:NamedThing	peripheral neuropathy associated with monoclonal gammopathy		mondoexuq1wtf												Orphanet:209010																		owl:Class
MONDO:0015923	biolink:NamedThing	acquired peripheral neuropathy	An instance of peripheral neuropathy that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired peripheral neuropathy											Orphanet:182086																		owl:Class
MONDO:0010803	biolink:NamedThing	Eiken syndrome	Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.	mondoexuq1wtf	bone modeling defect of hands and feet|Eiken syndrome|Eiken skeletal dysplasia											OMIM:600002|DOID:0111732|UMLS:C1838779|MESH:C564010|SCTID:720863002|Orphanet:79106																		owl:Class
MONDO:0019692	biolink:NamedThing	multiple epiphyseal dysplasia and pseudoachondroplasia		mondoexuq1wtf												ICD10:Q78.8|Orphanet:93429																		owl:Class
MONDO:0018230	biolink:NamedThing	primary bone dysplasia		mondoexuq1wtf	primary skeletal dysplasia|primary osteodysplasia					Editor note: ORDO has these as genetic, but some forms may not be genetic - check this						Orphanet:364526																		owl:Class
MONDO:0008679	biolink:NamedThing	Wilms tumor 1		mondoexuq1wtf	WT1|Wilms tumor type 1|nephroblastoma|Wilms' tumor|renal Wilms tumor|Wilms tumor 1											UMLS:CN033288|OMIM:194070																		owl:Class
MONDO:0003321	biolink:NamedThing	hereditary Wilms tumor	Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)	mondoexuq1wtf	hereditary Wilms' tumor|hereditary kidney adenosarcoma|hereditary Wilms tumor|familial Wilms tumor|hereditary renal adenosarcoma|WT1|familial Wilms' tumor|hereditary nephroblastoma											UMLS:C0677779|DOID:5183|NCIT:C8496|OMIMPS:194070																		owl:Class
MONDO:0021514	biolink:NamedThing	benign neoplasm of pericardium	A benign neoplasm that involves the pericardium.	mondoexuq1wtf	benign neoplasm of the pericardium|benign pericardial tumor|benign tumor of pericardium|pericardium benign neoplasm|benign tumor of the pericardium|benign pericardial neoplasm											UMLS:C0685118|SCTID:92289001|NCIT:C8536																		owl:Class
MONDO:0000634	biolink:NamedThing	thoracic benign neoplasm	A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.	mondoexuq1wtf	benign thoracic tumor|benign thoracic neoplasm|benign neoplasm of the thorax|benign neoplasm of thorax|thoracic segment of trunk benign neoplasm|benign tumor of thorax|benign tumor of the thorax										MONDO:0021448	SCTID:255059002|UMLS:C0346440|ICD9:229.8|DOID:0060097|NCIT:C4565																		owl:Class
MONDO:0017329	biolink:NamedThing	familial vesicoureteral reflux	Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.	mondoexuq1wtf	hereditary vesicoureteral reflux (disease)|familial VUR											SCTID:763716008|UMLS:CN202969|ICD10:N13.7|OMIMPS:193000|Orphanet:289365																		owl:Class
MONDO:0021145	biolink:NamedThing	disease of genitourinary system	A disease that involves the genitourinary system.	mondoexuq1wtf	syndrome of the genitourinary system|urogenital disease|urogenital disorder|disease of genitourinary system|disorder of genitourinary system|genitourinary system disease or disorder|genitourinary system disease|disease or disorder of genitourinary system|disorder of the genitourinary system											SCTID:42030000|UMLS:C0080276|ICD10:N00.N99																		owl:Class
MONDO:0007321	biolink:NamedThing	autosomal dominant chondrodysplasia punctata	Autosomal dominant form of chondrodysplasia punctata.	mondoexuq1wtf	chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency|chondrodysplasia punctata Sheffield type										MONDO:0022728	Orphanet:79344|GARD:0001298|MESH:C563248|DOID:0060293|OMIM:118650|ICD10:Q77.3														https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type				owl:Class
MONDO:0015775	biolink:NamedThing	non-rhizomelic chondrodysplasia punctata	Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.	mondoexuq1wtf												Orphanet:176|ICD10:Q77.3																		owl:Class
MONDO:0017164	biolink:NamedThing	hemolytic disease of the newborn with Kell alloimmunization		mondoexuq1wtf	maternal anti-Kell alloimmunization|anti-K HDN											ICD10:P55.8|Orphanet:275944|UMLS:CN202586																		owl:Class
MONDO:0017163	biolink:NamedThing	hemolytic disease due to fetomaternal alloimmunization		mondoexuq1wtf	hemolytic disease of the fetus and newborn											Orphanet:275938|ICD10:P55.0|ICD10:P55.9|ICD10:P55.8|ICD10:P55.1|UMLS:CN202585																		owl:Class
MONDO:0006221	biolink:NamedThing	gastric adenoma	A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.	mondoexuq1wtf	gastric adenoma|stomach adenoma|adenoma of stomach|adenoma of the stomach											EFO:1000268|UMLS:C0149826|NCIT:C7699																		owl:Class
MONDO:0021085	biolink:NamedThing	gastric neoplasm	A benign or malignant neoplasm involving the stomach.	mondoexuq1wtf	neoplasm of the stomach|neoplasm of stomach|gastric tumor|stomach neoplasm|stomach neoplasm (disease)|gastric neoplasm|tumor of the stomach|tumor of stomach|stomach tumor											NCIT:C3387|UMLS:C0038356|MESH:D013274|EFO:0003897|SCTID:126824007																		owl:Class
MONDO:0005169	biolink:NamedThing	neoplasm of mature T-cells or NK-cells	A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.	mondoexuq1wtf	mature T and NK neoplasms|mature T-cell neoplasm|mature T-cell and NK-cell neoplasm											EFO:0002426|UMLS:C1334640|ONCOTREE:MTNN|NCIT:C27909																		owl:Class
MONDO:0024615	biolink:NamedThing	T-cell and NK-cell neoplasm		mondoexuq1wtf	T-cell neoplasm|T-cell and NK-cell neoplasm											UMLS:C1336554|NCIT:C27908																		owl:Class
MONDO:0004592	biolink:NamedThing	impetigo	A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.	mondoexuq1wtf												ICD10:L01.00|ICD9:684|MESH:D007169|COHD:140480|SCTID:48277006|ICD10:L01.0|NCIT:C99088|EFO:1000714|DOID:8504|UMLS:C0021099|ICD10:L01																		owl:Class
MONDO:0002922	biolink:NamedThing	pyoderma	Any skin disease that is pyegenic.	mondoexuq1wtf												ICD9:686.00|DOID:4223|ICD9:686.0|ICD10:L08.0|ICD9:686.09|UMLS:C0034212|SCTID:70759006|COHD:133547|MESH:D011711																		owl:Class
MONDO:0033968	biolink:NamedThing	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome		mondoexuq1wtf												Orphanet:529977																		owl:Class
MONDO:0005365	biolink:NamedThing	hearing loss disorder	A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.	mondoexuq1wtf	hearing impairment|loss of hearing|hearing loss|hypoacuses|loss, hearing|deafness|hypoacusis											SCTID:15188001|ICD9:389.8|UMLS:C1384666|ICD9:389|NCIT:C35731|COHD:377889|ICD10:H90|ICD9:389.9|EFO:0004238|MESH:D034381																		owl:Class
MONDO:0004273	biolink:NamedThing	breast apocrine adenoma	A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.	mondoexuq1wtf	breast apocrine adenoma|apocrine adenoma of breast											NCIT:C40383|DOID:7540|UMLS:C1388299																		owl:Class
MONDO:0002058	biolink:NamedThing	breast adenoma	A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.	mondoexuq1wtf	breast adenoma|Ademoma - breast											DOID:1625|UMLS:C1328385|NCIT:C40382																		owl:Class
MONDO:0018657	biolink:NamedThing	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome		mondoexuq1wtf	CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA|CAPOK											OMIM:618373|UMLS:CN237716|Orphanet:447961																		owl:Class
MONDO:0019288	biolink:NamedThing	skin pigmentation disease	A pigmentation disease that involves the zone of skin.	mondoexuq1wtf	pigmentation anomaly of the skin|pigmentation disease of zone of skin|zone of skin pigmentation disease|pigmentation disease											ICD9:709.09|EFO:1000755|Orphanet:79374|MESH:D010859|DOID:10123																		owl:Class
MONDO:0018591	biolink:NamedThing	ITM2B amyloidosis		mondoexuq1wtf	familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy											ICD10:I68.0*|ICD10:E85.4+|SCTID:45639009|UMLS:CN237622|Orphanet:439254|ICD9:277.39																		owl:Class
MONDO:0018634	biolink:NamedThing	hereditary amyloidosis	Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.	mondoexuq1wtf	hereditary amyloidosis (disease)|amyloidosis hereditary|amyloidosis, Familial|familial amyloidosis											Orphanet:444116|UMLS:C0206246|MESH:D028226|SCTID:367601000119103|NCIT:C84555|GARD:0006611														https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis				owl:Class
MONDO:0019572	biolink:NamedThing	autosomal recessive cutis laxa type 1	Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).	mondoexuq1wtf	autosomal recessive cutis laxa with severe systemic involvement|autosomal recessive cutis laxa type 1|ARCL1|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa, pulmonary emphysema type|cutis laxa, type 1|autosomal recessive cutis laxa type I											MESH:C536225|GARD:8480|ICD10:Q82.8|SCTID:254222002|PMID:19401719|GARD:0008480|UMLS:CN206407|Orphanet:90349|DOID:0070144																		owl:Class
MONDO:0005385	biolink:NamedThing	vascular disease	A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma.	mondoexuq1wtf	vasculature disease|vascular tissue disease|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|vascular disorder|disorder of vasculature											DOID:178|ICD9:442.9|EFO:0004264|SCTID:27550009|MESH:D014652|ICD10:I72.9|NCIT:C35117|UMLS:C0042373																		owl:Class
MONDO:0010392	biolink:NamedThing	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.	mondoexuq1wtf	PGK deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|Pgk1 deficiency|GSD due to phosphoglycerate kinase 1 deficiency|PGK1 glycogen storage disease|PHOSPHOGLYCERATE KINASE 1 deficiency|glycogen storage disease caused by mutation in PGK1|Phosphoglycerate kinase deficiency											MESH:C567067|Orphanet:713|GARD:0007389|ICD10:E74.0|UMLS:C1970848|OMIM:300653|NCIT:C126738																		owl:Class
MONDO:0002412	biolink:NamedThing	glycogen storage disease	An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.	mondoexuq1wtf	GSD|glycogenosis|glycogenoses|glycogen storage disease|glycogen metabolism disorder|rare inborn error of glycogen metabolic process|inborn glycogen storage disorder|inborn glycogen metabolic process disorder|glycogen storage disorder|inborn error of glycogen metabolic process											ICD9:271.0|UMLS:C0017919|ICD10:E74.00|ICD10:E74.0|MESH:D006008|DOID:0050728|SCTID:29633007|NCIT:C61272|COHD:434003|MedDRA:10061990|Orphanet:79201|DOID:2747																		owl:Class
MONDO:0021180	biolink:NamedThing	acquired xanthinuria	Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.	mondoexuq1wtf	acquired xanthinuria																													owl:Class
MONDO:0000721	biolink:NamedThing	xanthinuria	A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.	mondoexuq1wtf												ICD9:277.2|SCTID:190919008																		owl:Class
MONDO:0007120	biolink:NamedThing	aniridia-absent patella syndrome	Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	mondoexuq1wtf	aniridia absent patella|aniridia and absent patella|familial syndrome of aniridia and absence of the patella											ICD10:Q87.8|MESH:C566281|Orphanet:1069|GARD:0000685|OMIM:106220|UMLS:C1862868														https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella				owl:Class
MONDO:0020148	biolink:NamedThing	syndromic aniridia	A aniridia that is part of a larger syndrome.	mondoexuq1wtf	syndromic aniridia|syndrome associated with aniridia											UMLS:CN227798|Orphanet:98557																		owl:Class
MONDO:0015518	biolink:NamedThing	infantile bilateral striatal necrosis	Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.	mondoexuq1wtf	SNDI|striatonigral degeneration infantile|infantile striatonigral degeneration|IBSN|infantile striatonigral necrosis|striatal degeneration familial|infantile bilateral striatal necrosis											Orphanet:1576|GARD:0005040|SCTID:718174008|UMLS:C0795996|ICD10:G23.2																		owl:Class
MONDO:0017641	biolink:NamedThing	miscellaneous movement disorder due to neurodegenerative disease		mondoexuq1wtf												Orphanet:306695|UMLS:CN203537																		owl:Class
MONDO:0017411	biolink:NamedThing	neonatal inflammatory skin and bowel disease	Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	mondoexuq1wtf	inflammatory skin and bowel disease, neonatal											Orphanet:294023|OMIMPS:614328|UMLS:CN228266|DC:0000674																		owl:Class
MONDO:0011848	biolink:NamedThing	headache associated with sexual activity		mondoexuq1wtf	HSA|headache associated with sexual activity|benign sexual headache											ICD10:G44.82|OMIM:607504|COHD:374342																		owl:Class
MONDO:0002165	biolink:NamedThing	rectal neoplasm	A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	mondoexuq1wtf	rectal tumor|rectum tumor|tumor of the rectum|rectum neoplasm|neoplasm of the rectum|rectum neoplasm (disease)|tumor of rectum|neoplasm of rectum|rectal neoplasm											NCIT:C3350|MESH:D012004|SCTID:126847008|DOID:1984|UMLS:C0034885																		owl:Class
MONDO:0005335	biolink:NamedThing	colorectal neoplasm	A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	mondoexuq1wtf	colorectum neoplasm (disease)|large intestine neoplasm|large intestinal neoplasm|tumor of the large bowel|colorectal tumor|large bowel tumor|colorectal neoplasm|neoplasm of colorectum|colorectum tumor|tumor of colorectum|tumor of large bowel|neoplasm of large bowel|colorectum neoplasm|large intestine tumor|neoplasm of the large bowel|large bowel neoplasm										MONDO:0021236	MESH:D015179|NCIT:C2956|EFO:0004142																		owl:Class
MONDO:0014886	biolink:NamedThing	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		mondoexuq1wtf	intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive type 55|mental retardation, autosomal recessive 55|MRT55|intellectual disability, autosomal recessive type 55											Orphanet:488627|OMIM:617051|UMLS:C4310745																		owl:Class
MONDO:0019289	biolink:NamedThing	hyperpigmentation of the skin		mondoexuq1wtf												COHD:4172432|HP:0000953|SCTID:49765009|ICD9:709.09|Orphanet:79375|EFO:0009047																		owl:Class
MONDO:0005825	biolink:NamedThing	leptospirosis	A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.	mondoexuq1wtf	infection due to Leptospira|Leptospira disease or disorder|swamp fever|Leptospira infectious disease|seven day fever|cane cutter's fever|rat catcher's yellows|Queensland fever|Weil disease|mud fever|Stuttgart disease|japanese autumnal fever|leptospirosis icterohaemorrhagica|hemorrhagic jaundice|canicola fever|rice-field worker's disease|swineherd's disease|Leptospira caused disease or disorder|nanukayami fever|harvest fever|cane-cutter fever|Icterohemorrhagic fever|leptospirosis|spirochetal jaundice|rice-field fever|fort Bragg fever											MESH:D007922|NCIT:C84825|Orphanet:509|ICD9:100.0|ICD9:100.89|GARD:0007881|UMLS:C0023364|ICD9:100.9|SCTID:77377001|ICD10:A27|EFO:0007344|ICD10:A27.0|MedDRA:10024238|ICD10:A27.9|ICD10:A27.8|DOID:2297|COHD:432246|ICD9:100														https://rarediseases.info.nih.gov/diseases/7881/leptospirosis				owl:Class
MONDO:0000314	biolink:NamedThing	primary bacterial infectious disease		mondoexuq1wtf												DOID:0050338																		owl:Class
MONDO:0100035	biolink:NamedThing	structural epilepsy	Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.	mondoexuq1wtf					2018-06-23 19:24:32+00:00																									owl:Class
MONDO:0005027	biolink:NamedThing	epilepsy	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.	mondoexuq1wtf	seizure disorder											EFO:0000474|NIFSTD:birnlex_12718|NCIT:C3020|SCTID:84757009|ICD9:345.90|ICD10:G40|ICD9:345|ICD10:G40.9|ICD10:G40.909|ICD9:345.80|DOID:1826|ICD9:345.9|ICD9:345.91|ICD9:345.8|MESH:D004827|COHD:380378																		owl:Class
MONDO:0014661	biolink:NamedThing	epidermolysis bullosa simplex with nail dystrophy		mondoexuq1wtf	epidermolysis bullosa simplex with nail dystrophy|EBSND											UMLS:C4225309|OMIM:616487																		owl:Class
MONDO:0015081	biolink:NamedThing	neuroendocrine tumor with other location		mondoexuq1wtf						Editor note: consider obsoleting						Orphanet:100101|UMLS:CN197376																		owl:Class
MONDO:0019496	biolink:NamedThing	neuroendocrine neoplasm	Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).	mondoexuq1wtf	neuroendocrine tumor|APUDoma|neuroendocrine neoplasm					Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass						EFO:1001901|ICD10:D3A.8|UMLS:C0206754|DOID:169|NCIT:C3809|ICD9:209|UMLS:C0003650|ICD9:209-209.99|COHD:434300|Orphanet:877|SCTID:255046005|UMLS:CN206284|MESH:D018358|ICD9:239.7																		owl:Class
MONDO:0005440	biolink:NamedThing	embryonal carcinoma	A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).	mondoexuq1wtf	carcinoma, embryonal, malignant|primary extragonadal embryonal carcinoma|embryonal carcinoma					Editor note: TODO check classification w.r.t carcinoma						MESH:D018236|EFO:0004986|ONCOTREE:EMBCA|GARD:0005140|ICD10:C71.9|Orphanet:180226|UMLS:C0206659|NCIT:C3752|DOID:3308|ICDO:9070/3|ICD10:C22.7														https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma				owl:Class
MONDO:0003578	biolink:NamedThing	extragonadal nonseminomatous germ cell tumor	A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	mondoexuq1wtf	malignant tumor of the extragonadal non-seminomatous germ cell|malignant extragonadal Nonseminoma|malignant tumor of extragonadal non-seminomatous germ cell|cancer of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|extragonadal primary Nonseminoma|malignant neoplasm of the extragonadal non-seminomatous germ cell|extragonadal non-seminomatous germ cell cancer|primary malignant extragonadal Nonseminoma|malignant neoplasm of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell tumor|malignant extragonadal non-seminomatous germ cell neoplasm											UMLS:C1334582|NCIT:C8885|DOID:5677																		owl:Class
MONDO:0012693	biolink:NamedThing	glycogen storage disease due to muscle and heart glycogen synthase deficiency	Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	mondoexuq1wtf	GSD type 0b|muscle glycogen synthase deficiency|glycogenosis type 0b|glycogenosis due to muscle and heart glycogen synthase deficiency|GSD0B|glycogen storage disease type 0b|GSD 0B|GSD due to muscle and heart glycogen synthase deficiency|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|glycogen storage disease 0, muscle|muscle glycogen storage disease 0|glycogen storage disease type 0, muscle											UMLS:C1969054|OMIM:611556|SCTID:725027004|Orphanet:137625|MESH:C566917|GARD:0010760|ICD10:E74.0																		owl:Class
MONDO:0017693	biolink:NamedThing	glycogen storage disease due to glycogen synthase deficiency		mondoexuq1wtf	glycogenosis due to glycogen synthase deficiency|GSD0|glycogen storage disease type 0|GSD due to glycogen synthase deficiency											UMLS:CN203589|ICD10:E74.0|Orphanet:308520																		owl:Class
MONDO:0019132	biolink:NamedThing	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome		mondoexuq1wtf												ICD10:G12.8|Orphanet:73245|UMLS:CN205656																		owl:Class
MONDO:0016113	biolink:NamedThing	bulbospinal muscular atrophy		mondoexuq1wtf	spinal and bulbal muscular atrophy|spinal-bulbar muscular atrophy|bulbospinal muscular atrophy|SBMA											SCTID:230253001|Orphanet:206701|ICD10:G12.2																		owl:Class
MONDO:0018953	biolink:NamedThing	parietal foramina	Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.	mondoexuq1wtf	enlarged parietal foramina|fenestrae parietales symmetricae|Caitlin marks|foramina parietalia permagna|hereditary cranium bifidum|catlin marks|symmetric parietal foramina											Orphanet:60015|DOID:0060285|HP:0002697|ICD10:Q75.8|MESH:C566826|SCTID:718099006|OMIMPS:168500																		owl:Class
MONDO:0020018	biolink:NamedThing	cranial malformation		mondoexuq1wtf												Orphanet:98038																		owl:Class
MONDO:0015212	biolink:NamedThing	syndromic intestinal malformation	A intestinal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with intestinal malformation|syndromic intestinal malformation											UMLS:CN226629|Orphanet:108969																		owl:Class
MONDO:0003831	biolink:NamedThing	type 2 papillary adenoma of the kidney		mondoexuq1wtf	type 2 papillary adenoma of the kidney|type 2 renal papillary adenoma											DOID:6259|NCIT:C39810|UMLS:C1519710																		owl:Class
MONDO:0003829	biolink:NamedThing	chromophil adenoma of the kidney	A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.	mondoexuq1wtf	papillary adenoma of the kidney|chromophil adenoma of the kidney|renal papillary adenoma											NCIT:C3687|DOID:6257|UMLS:C1518879																		owl:Class
MONDO:0004133	biolink:NamedThing	pituitary gland mixed eosinophil-basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.	mondoexuq1wtf	mixed acidophil-basophil adenoma (morphologic abnormality)|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma											DOID:7179|NCIT:C4148|ICDO:8281/0|UMLS:C0334312																		owl:Class
MONDO:0006373	biolink:NamedThing	pituitary gland adenoma	A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.	mondoexuq1wtf	adenoma of the pituitary gland|pituitary adenoma|adenoma of the pituitary|adenoma of pituitary|adenoma of pituitary gland|adenoma, anterior lobe pituitary gland, benign|PTAD|pituitary gland adenoma											ICD10:D35.2|SCTID:254956000|UMLS:C0032000|DOID:3829|ONCOTREE:PTAD|EFO:1000478|Orphanet:99408|NCIT:C3329|MedDRA:10035079|ICDO:8272/0																		owl:Class
MONDO:0000044	biolink:NamedThing	hereditary hypophosphatemic rickets	Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.	mondoexuq1wtf	hereditary hypophosphatemic rickets											OMIMPS:193100|MedDRA:10060873|GARD:0006735|ICD10:E83.3|DC:0000215|Orphanet:437														https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets				owl:Class
MONDO:0024300	biolink:NamedThing	hypophosphatemic rickets	Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.	mondoexuq1wtf	vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|rickets, vitamin D resistant|hypophosphatemic rickets|acquired vitamin D resistant rickets|acquired vitamin D-resistant rickets|rickets, vitamin D-resistant|hypophosphatemic vitamin D-resistant rickets|Ricket, hypophosphatemic|hypophosphatemic Ricket|hypophosphatemia, vitamin D-resistant rickets|Phosphopenic rickets											NCIT:C131449|MESH:D063730																		owl:Class
MONDO:0011088	biolink:NamedThing	congenital myasthenic syndrome 1A	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.	mondoexuq1wtf	myasthenic syndrome, congenital, 1A, slow-channel|CHRNA1 congenital myasthenic syndrome|CMS1A|myasthenic syndrome, congenital, type IIa, formerly|congenital myasthenic syndrome type 1A|congenital myasthenic syndrome type IIa|myasthenic syndrome, congenital, type IIa|Cms IIa|congenital myasthenic syndrome caused by mutation in CHRNA1|Cms IIa, formerly|congenital myasthenic syndrome 1A, slow-channel|CMS IIa											OMIM:601462|DOID:0110663																		owl:Class
MONDO:0020344	biolink:NamedThing	postsynaptic congenital myasthenic syndrome		mondoexuq1wtf	postsynaptic congenital myasthenic syndromes											ICD10:G70.2|Orphanet:98913																		owl:Class
MONDO:0019688	biolink:NamedThing	sulfation-related bone disorder		mondoexuq1wtf												Orphanet:93423|UMLS:CN227674																		owl:Class
MONDO:0015779	biolink:NamedThing	45,X/46,XY mixed gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.	mondoexuq1wtf	Mixed gonadal dysgenesis|45,X0/46,XY MGD|45,X/46,XY MGD|45,X/46,XY disorder of Sex development|XY/X0|45,X/46,XY gonadal dysgenesis|45,X0/46,XY mixed gonadal dysgenesis											NCIT:C120199|Orphanet:1772|ICD10:Q98.7|DOID:0080656																		owl:Class
MONDO:0017975	biolink:NamedThing	sex chromosome disorder of sex development	Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.	mondoexuq1wtf	Sex chromosome DSD											MESH:D058533|Orphanet:325546																		owl:Class
MONDO:0032808	biolink:NamedThing	developmental and epileptic encephalopathy, 77		mondoexuq1wtf	epileptic encephalopathy, early infantile, 77|DEE77|glycosylphosphatidylinositol biosynthesis defect 19|EIEE77|multiple congenital anomalies-hypotonia-seizures syndrome 4											OMIM:618548																		owl:Class
MONDO:0100247	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:614080																		owl:Class
MONDO:0003924	biolink:NamedThing	adrenal cortex adenoma	A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	mondoexuq1wtf	benign adenoma of adrenal gland|adrenal gland adenoma|adenoma of the adrenal cortex|benign adrenal gland adenoma|adenoma, adrenocortical, benign|adrenal cortex adenoma|adenoma of adrenal cortex|adenoma of the adrenal gland|adrenocortical adenoma|adrenal incidentaloma|adenoma of adrenal gland|adrenal adenoma|adrenal cortical adenoma|benign adenoma of the adrenal gland|benign adrenal adenoma|cortical cell adenoma										MONDO:0005248	GARD:0005745|HP:0008256|ICDO:8370/0|NCIT:C9003|EFO:0003104|ONCOTREE:ACA|SCTID:302826002|UMLS:C0206667|MESH:D018246|Orphanet:463|HP:0008196|DOID:0050891|DOID:656																		owl:Class
MONDO:0036591	biolink:NamedThing	adrenal cortex neoplasm	A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)	mondoexuq1wtf	adrenocortical tumor|adrenocortical neoplasm|neoplasm of adrenal cortex|tumor of adrenal cortex|adrenal cortex tumor|adrenal cortex neoplasm											NCIT:C2858																		owl:Class
MONDO:0000358	biolink:NamedThing	orofacial cleft		mondoexuq1wtf						Editor notes: most subtypes are isolated						UMLS:CN221583|OMIMPS:119530|SCTID:449790007|DOID:0050567																		owl:Class
MONDO:0019920	biolink:NamedThing	paternal uniparental disomy of chromosome 5	Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	mondoexuq1wtf	UPD(5)pat|paternal uniparental disomy of chromosome type 5											ICD10:Q99.8|Orphanet:96190																		owl:Class
MONDO:0020057	biolink:NamedThing	uniparental disomy of paternal origin		mondoexuq1wtf												SCTID:726402006|Orphanet:98154|ICD10:Q99.8																		owl:Class
MONDO:0004095	biolink:NamedThing	B-cell neoplasm	A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.	mondoexuq1wtf	B-cell lymphoma|B-cell neoplasm|lymphoma, B-cell|B-cell lymphocytic neoplasm											NCIT:C27907|GARD:0005877|MESH:D016393|DOID:707														https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma				owl:Class
MONDO:0005062	biolink:NamedThing	lymphoma	A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.	mondoexuq1wtf	lymphomatous|lymphoid cancer|lymphoma, malignant|MLYM|lymphoma|lymphoma (Hodgkin and non-Hodgkin)|lymphoma (Hodgkin's and non-Hodgkin's)|malignant lymphoma					This is potentially too broad as well as overlaps with leukemia and should be obsoleted.						Orphanet:223735|SCTID:118600007|UMLS:C0024299|ICD9:202.80|ICD10:C85.9|MESH:D008223|ONCOTREE:MLYM|GARD:0011955|COHD:432571|MedDRA:10025310|ICD9:200.1|NCIT:C3208|EFO:0000574|ICDO:9590/3|ICD9:200.0|DOID:0060058																		owl:Class
MONDO:0016593	biolink:NamedThing	acquired ataxia	A type of ataxia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired ataxia											SCTID:722968003|Orphanet:247242																		owl:Class
MONDO:0100308	biolink:NamedThing	atactic disorder	A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.	mondoexuq1wtf	ataxia|ataxic disorder							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0011121	biolink:NamedThing	paragangliomas 2	Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.	mondoexuq1wtf	SDHAF2 paraganglioma|PGL2|paragangliomas 2|paraganglioma caused by mutation in SDHAF2|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|glomus tumors, familial, 2|paragangliomas type 2											OMIM:601650|MESH:C566646|GARD:0010544														https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2				owl:Class
MONDO:0000448	biolink:NamedThing	paraganglioma	A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.	mondoexuq1wtf	paraganglion tumor|paragangliomas|neoplasm of paraganglion|tumor of the paraganglion|Paraganglionic tumor|tumor of paraganglion|paraganglioma|paraganglion neoplasm|chemodectoma|neoplasm of the paraganglion|Paraganglionic neoplasm											MESH:D010235|EFO:1000453|UMLS:C0030421|ICD9:239.7|ICDO:8680/1|NCIT:C3308|SCTID:127027008|DOID:0050773|ONCOTREE:PGNG|OMIMPS:168000																		owl:Class
MONDO:0007270	biolink:NamedThing	cardiomyopathy, familial restrictive, 1	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	mondoexuq1wtf	TNNI3 familial isolated restrictive cardiomyopathy|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|Rcm|cardiomyopathy, familial restrictive, 1|cardiomyopathy, familial restrictive, type 1|RCM1											OMIM:115210|MESH:C566168|UMLS:C1861861|DOID:0111425																		owl:Class
MONDO:0019150	biolink:NamedThing	familial isolated restrictive cardiomyopathy	Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.	mondoexuq1wtf	familial or idiopathic restrictive cardiomyopathy											Orphanet:75249|ICD10:I42.5|UMLS:CN205687																		owl:Class
MONDO:0013908	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 3		mondoexuq1wtf	thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3											OMIM:614834																		owl:Class
MONDO:0019201	biolink:NamedThing	thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.	mondoexuq1wtf	thyrotoxic hypokalemic periodic paralysis											MedDRA:10043788|GARD:0010814|ICD10:G72.3|UMLS:C0268446|OMIMPS:188580|Orphanet:79102|SCTID:30967002|DC:0000438														https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis				owl:Class
MONDO:0011053	biolink:NamedThing	intellectual disability-sparse hair-brachydactyly syndrome	Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.	mondoexuq1wtf	Nicolaides-Baraitser syndrome|NBs|NCBRS|sparse hair and mental retardation|NICOLAIDES-Baraitser syndrome|sparse hair and intellectual disability											GARD:0000270|Orphanet:3051|MESH:C536116|SCTID:401046009|UMLS:C1303073|OMIM:601358																		owl:Class
MONDO:0009303	biolink:NamedThing	anti-glomerular basement membrane disease	Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.	mondoexuq1wtf	Goodpasture syndrome|pulmonary renal syndrome|anti-glomerular basement membrane disease|glomerulonephritis - pulmonary hemorrhage|anti-GBM syndrome|rapidly progressive glomerulonephritis with pulmonary hemorrhage|anti-glomerular basement membrane antibody disease											ICD10:N08.5*|DOID:9808|ICD10:M31.0+|GARD:0002551|EFO:0007290|ICD9:446.21|MESH:D019867|ICD10:M31.0|OMIM:233450|NCIT:C84566|SCTID:236432001|UMLS:C0403529|MedDRA:10018620|Orphanet:375														https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome				owl:Class
MONDO:0015490	biolink:NamedThing	predominantly small-vessel vasculitis		mondoexuq1wtf												Orphanet:156146																		owl:Class
MONDO:0009593	biolink:NamedThing	spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.	mondoexuq1wtf	lethal metaphyseal dysplasia|metaphyseal chondrodysplasia, congenital lethal|SMDS|spondylometaphyseal dysplasia, Sedaghatian type|spondylometaphyseal dysplasia Sedaghatian type|Sedaghatian chondrodysplasia											MESH:C535798|UMLS:C1855229|ICD10:Q77.8|Orphanet:93317|GARD:0004993|OMIM:250220														https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type				owl:Class
MONDO:0016763	biolink:NamedThing	spondylometaphyseal dysplasia	Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.	mondoexuq1wtf												OMIMPS:184255|ICD10:Q77.8|Orphanet:254|DC:0000598																		owl:Class
MONDO:0100311	biolink:NamedThing	sensory ataxia	Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0016985	biolink:NamedThing	nevus of Ito	Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.	mondoexuq1wtf	Nevus fuscocaeruleus acromiodeltoideus|hypomelanosis of Ito|nevi of Ito|Ito's Nevus											Orphanet:263432|NCIT:C7582|UMLS:C0022283|UMLS:CN202288|EFO:1000395|GARD:0010830|ICD10:D22.6																		owl:Class
MONDO:0005073	biolink:NamedThing	melanocytic nevus	A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.	mondoexuq1wtf	mole|melanotic Nevus|melanocytic Nevus|nevus|mole of skin											SCTID:400096001|Wikipedia:Nevus|MESH:D009506|COHD:4271013|EFO:0000625|NCIT:C7570																		owl:Class
MONDO:0019705	biolink:NamedThing	primary bone dysplasia with defective bone mineralization		mondoexuq1wtf	primary skeletal dysplasia with defective bone mineralization|primary osteodysplasia with defective bone mineralization											Orphanet:93447																		owl:Class
MONDO:0006679	biolink:NamedThing	bladder neck obstruction	Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.	mondoexuq1wtf	obstruction of bladder neck or vesicourethral orifice											SCTID:399072004|MedDRA:10005053|EFO:1000840|UMLS:C0005694|ICD9:596.0|DOID:13948|COHD:433813|MESH:D001748|ICD10:N32.0																		owl:Class
MONDO:0006026	biolink:NamedThing	urinary bladder disease	A disease involving the urinary bladder.	mondoexuq1wtf	disorder of urinary bladder|disease or disorder of urinary bladder|bladder disorder|disease of urinary bladder|urinary bladder disease|urinary bladder disorder|urinary bladder disease or disorder|bladder disease											ICD9:596.8|UMLS:C0005686|EFO:1000018|MESH:D001745|SCTID:42643001|COHD:201337|DOID:365|NCIT:C2900|ICD9:596.9|ICD10:N32.9																		owl:Class
MONDO:0017746	biolink:NamedThing	atypical Rett syndrome	Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).	mondoexuq1wtf	atypical RTT|Rett syndrome variant|Rett like syndrome											GARD:0004694|UMLS:C2748910|ICD10:F84.2|Orphanet:3095|SCTID:718393002																		owl:Class
MONDO:0002782	biolink:NamedThing	cranial nerve palsy	Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.	mondoexuq1wtf	cranial nerve palsy|cranial nerve paralysis|cranial nerve palsies											UMLS:C0151311|NCIT:C26941|DOID:3817																		owl:Class
MONDO:0003569	biolink:NamedThing	cranial nerve neuropathy	A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.	mondoexuq1wtf	cranial nerve disease|disorder of cranial neuron projection bundle|cranial neuropathy|disease or disorder of cranial neuron projection bundle|disease of cranial neuron projection bundle|cranial nerve disorder|cranial neuron projection bundle disease|cranial neuron projection bundle disease or disorder|disorder of cranial nerve											ICD9:352.9|UMLS:C0010266|MESH:D003389|COHD:441848|NCIT:C26733|DOID:5656|SCTID:73013002|ICD10:G52.9																		owl:Class
MONDO:0017543	biolink:NamedThing	zygodactyly type 2		mondoexuq1wtf	Zygodactyly, Lueken type|SD1b|syndactyly type 1b|SD1, Lueken type|syndactyly type 1, Lueken type											ICD10:Q70.1|Orphanet:295189|ICD10:Q70.0|ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.3																		owl:Class
MONDO:0008512	biolink:NamedThing	syndactyly type 1	Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.	mondoexuq1wtf	chromosome 2q35 DUPLICATION syndrome|syndactyly, type 1|SDTY1|Sd1|craniosynostosis, Philadelphia type|Zygodactyly											OMIM:185900|Orphanet:93402|SCTID:715723008|UMLS:C4275033|ICD10:Q70.1|ICD10:Q70.0|UMLS:C1861380|ICD10:Q70.2|ICD10:Q70.3|GARD:0005081																		owl:Class
MONDO:0014575	biolink:NamedThing	Singleton-Merten syndrome 2	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.	mondoexuq1wtf	singleton-Merten syndrome 2|SGMRT2|DDX58 singleton-Merten dysplasia|singleton-Merten syndrome type 2|singleton-Merten dysplasia caused by mutation in DDX58											OMIM:616298|UMLS:C4225380																		owl:Class
MONDO:0008429	biolink:NamedThing	singleton-Merten dysplasia	Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).	mondoexuq1wtf	SM syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|SGMRT1|singleton Merten syndrome|Merten-singleton syndrome|widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|singleton-Merten syndrome											UMLS:C0432254|ICD10:Q78.8|DC:0000703|OMIMPS:182250|SCTID:254114000|Orphanet:85191|ICD9:733.29|GARD:0000122|MESH:C537343																		owl:Class
MONDO:0011140	biolink:NamedThing	benign familial neonatal-infantile seizures	Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.	mondoexuq1wtf	seizures, benign familial infantile, 1|BFNIS|convulsions, benign familial infantile, 1|benign familial infantile convulsions|BFIS1|benign neonatal-infantile epilepsy|convulsions benign familial neonatal|epilepsy, benign neonatal-infantile											MedDRA:10067866|Orphanet:140927|ICD10:G40.4|GARD:0001518																		owl:Class
MONDO:0017615	biolink:NamedThing	benign familial infantile epilepsy	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	mondoexuq1wtf	seizures, benign familial infantile|BFIE|BFIC|benign familial infantile convulsions|benign familial infantile seizures|benign familial infantile convulsion|BFIS											DOID:0060169|UMLS:CN203492|ICD10:G40.3|SCTID:230410004|GARD:0000857|ICD9:V17.2|OMIMPS:601764|Orphanet:306																		owl:Class
MONDO:0700089	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.	mondoexuq1wtf	choreoathetosis, nonkinesigenic|paroxysmal dystonic choreoathetosis|mount-reback syndrome|paroxysmal nonkinesigenic dyskinesia type 1|choreoathetosis, familial paroxysmal|paroxysmal dyskinesia caused by mutation in PNKD|PNKD1|PNKD paroxysmal dyskinesia|dystonia 8|paroxysmal nonkinesigenic dyskinesia 1|PxMD-PNKD							http://orcid.org/0000-0002-4142-7153				GARD:0008722|OMIM:118800|MedDRA:10065657|DOID:0090049|MedDRA:10065658|ICD10:G24.8																		owl:Class
MONDO:0700088	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia	Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.	mondoexuq1wtf	DYT-MR-1|paroxysmal non-kinesigenic dyskinesia|Paroxysomal nonkinesigenic dyskinesia|Paroxystic non-kinesigenic choreoathetosis							http://orcid.org/0000-0002-4142-7153				GARD:0008722|Orphanet:98810																		owl:Class
MONDO:0008491	biolink:NamedThing	stiff-person syndrome	Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.	mondoexuq1wtf	Stiff person syndrome and related disorders|SPS|Stiff Person syndrome|Stiff-trunk syndrome|Stiff-man syndrome|STIFF-PERSON syndrome|stiff-person syndrome|SMS|Stiff man syndrome|Stiff-Man syndrome|Moersch-Woltman syndrome|progressive encephalomyelitis with rigidity|stiff man syndrome|Morsch Woltman syndrome											EFO:0007498|NCIT:C85170|GARD:0005023|ICD10:G25.8|MedDRA:10042044|OMIM:184850|MESH:D016750|SCTID:5217008|ICD10:G25.82|DOID:13366|COHD:379008|UMLS:C0085292|Orphanet:3198|ICD9:333.91																		owl:Class
MONDO:0016290	biolink:NamedThing	Hernández-Aguirre Negrete syndrome	Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.	mondoexuq1wtf	intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation											MONDO:0022314|SCTID:721146009|GARD:0003491|MESH:C538112|Orphanet:2139|ICD10:Q87.8																		owl:Class
MONDO:0019956	biolink:NamedThing	encephalitis	An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.	mondoexuq1wtf	brain inflammation					Editor note: consider merging with brain inflammation						Orphanet:97275|DOID:9588|MESH:D004660|UMLS:C0014038|ICD9:323.9|SCTID:45170000|NCIT:C26760|ICD9:323.8|ICD9:323.0|MedDRA:10014581|ICD10:A85																		owl:Class
MONDO:0010526	biolink:NamedThing	Fabry disease	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.	mondoexuq1wtf	Alpha-galactosidase A deficiency|Gla deficiency|alpha galactosidase deficiency|angiokeratoma, diffuse|deficiency of melibiase|angiokeratoma corporis diffusum|Fabry's disease|Anderson-Fabry disease|diffuse angiokeratoma|Fabry disease|Fabry disease, Cardiac variant|Fd|hereditary dystopic lipidosis|ceramide trihexosidase deficiency											MedDRA:10016016|MESH:D000795|UMLS:C0002986|ICD10:E75.2|GARD:0006400|ICD10:E75.21|OMIM:301500|Orphanet:324|DOID:14499|SCTID:16652001|NCIT:C84701																		owl:Class
MONDO:0020127	biolink:NamedThing	genetic peripheral neuropathy	Genetic peripheral neuropathy.	mondoexuq1wtf	genetic peripheral neuropathy											Orphanet:98497																		owl:Class
MONDO:0021089	biolink:NamedThing	peripheral nervous system cancer	Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location	mondoexuq1wtf	malignant peripheral nervous system tumor|malignant neoplasm of the peripheral nervous system|malignant PNS neoplasm|malignant tumor of the peripheral nervous system|malignant neoplasm of PNS|cancer of peripheral nervous system|malignant tumor of peripheral nerve|malignant neoplasm of peripheral nervous system|malignant neoplasm of the PNS|malignant tumor of peripheral nervous system|malignant peripheral nervous system neoplasm|malignant tumor of PNS|peripheral nervous system neoplasms, malignant|malignant tumor of the peripheral nerve|peripheral nervous system cancer|malignant neoplasm of the peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of peripheral nerve|malignant neoplasms, peripheral nerve|malignant tumor of the PNS|malignant peripheral nerve neoplasm|malignant PNS tumor											NCIT:C4961|SCTID:254986007|ICD9:171.9|UMLS:C0751428																		owl:Class
MONDO:0019666	biolink:NamedThing	spondyloepimetaphyseal dysplasia, PAPSS2 type	Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia, Pakistani type|BCYM4|SEMD, Pakistani type|spondyloepimetaphyseal dysplasia Pakistani type|brachyolmia type 4 with mild epiphyseal and metaphyseal changes|spondylodysplasia and premature pubarche											ICD10:Q77.7|DOID:0050812|Orphanet:93282|SCTID:719172003|OMIM:612847																		owl:Class
MONDO:0003537	biolink:NamedThing	precursor T-lymphoblastic lymphoma/leukemia	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	mondoexuq1wtf	precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma											ICDO:9837/3|DOID:5599|NCIT:C8694|UMLS:C1301359																		owl:Class
MONDO:0003538	biolink:NamedThing	precursor lymphoblastic lymphoma/leukemia	A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003	mondoexuq1wtf	precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia|precursor lymphoblastic leukemia/lymphoma											UMLS:C1335469|DOID:5600|EFO:0009119|NCIT:C7055																		owl:Class
MONDO:0011070	biolink:NamedThing	van Maldergem syndrome 1	Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.	mondoexuq1wtf	van Maldergem syndrome 1|VMLDS1|VAN Maldergem syndrome 1|van Maldergem syndrome caused by mutation in DCHS1|Van Maldergem syndrome type 1|Cerebrofacioarticular syndrome|DCHS1 van Maldergem syndrome											DOID:0080585|OMIM:601390																		owl:Class
MONDO:0017813	biolink:NamedThing	van Maldergem syndrome	Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	mondoexuq1wtf	Van Maldergem syndrome|cerebro-facio-articular syndrome|cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem Wetzburger Verloes syndrome											UMLS:CN203783|GARD:0005456|DOID:0060238|OMIMPS:601390|Orphanet:314679																		owl:Class
MONDO:0014555	biolink:NamedThing	peeling skin syndrome type A	Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.	mondoexuq1wtf	PSS3|peeling skin syndrome 3|generalized deciduous skin type A|non-inflammatory peeling skin syndrome type A|generalized peeling skin syndrome type A|peeling skin syndrome type 3|non-inflammatory generalized peeling skin syndrome type A.|PSS type A											Orphanet:263548|OMIM:616265|UMLS:C4015729|ICD10:Q80.8																		owl:Class
MONDO:0010033	biolink:NamedThing	generalized peeling skin syndrome	Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.	mondoexuq1wtf	PSS1|peeling skin syndrome 1|generalized deciduous skin|generalized PSS|peeling skin syndrome type 1											SCTID:718749004|UMLS:C4305156|UMLS:CN202304|GARD:0012862|ICD10:Q80.8|Orphanet:263543																		owl:Class
MONDO:0021483	biolink:NamedThing	benign neoplasm of frontal sinus	A benign neoplasm that involves the frontal sinus.	mondoexuq1wtf	benign tumor of the frontal sinus|benign tumor of frontal sinus|benign frontal sinus tumor|benign frontal sinus neoplasm|frontal sinus benign neoplasm|benign neoplasm of the frontal sinus											NCIT:C4420|SCTID:92115005|UMLS:C0345674|ICD9:212.0																		owl:Class
MONDO:0001757	biolink:NamedThing	frontal sinus neoplasm	A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	frontal sinus tumor|frontal sinus neoplasm (disease)|tumor of the frontal sinus|neoplasm of the frontal sinus|neoplasm of frontal sinus|tumor of frontal sinus										MONDO:0021214	NCIT:C4419|DOID:1361|UMLS:C0345672|SCTID:126678005																		owl:Class
MONDO:0007248	biolink:NamedThing	hereditary painful callosities	Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.	mondoexuq1wtf	callosities, painful plantar|keratosis palmoplantaris nummularis|Plamoplantar keratoderma nummularis|Plamoplantar hyperkeratosis nummularis|callosities, hereditary painful|PPK nummularis											UMLS:C1861964|MESH:C566180|ICD10:Q82.8|Orphanet:79141|OMIM:114140																		owl:Class
MONDO:0017673	biolink:NamedThing	isolated focal palmoplantar keratoderma	A focal palmoplantar keratoderma that is not part of a larger syndrome.	mondoexuq1wtf	isolated focal palmoplantar hyperkeratosis|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK|isolated focal keratosis palmoplantaris											Orphanet:307846|ICD10:Q82.8																		owl:Class
MONDO:0013652	biolink:NamedThing	narcolepsy 7	Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.	mondoexuq1wtf	narcolepsy type 7|narcolepsy 7|MOG narcolepsy|narcolepsy caused by mutation in MOG|NRCLP7											OMIM:614250|UMLS:C3280266																		owl:Class
MONDO:0016158	biolink:NamedThing	narcolepsy-cataplexy syndrome	Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	mondoexuq1wtf	paroxysmal sleep|Gélineau disease|narcolepsy-cataplexy syndrome|narcoleptic syndrome|GC)lineau disease|narcolepsy with cataplexy|Gelineau syndrome|Gelineau's syndrome											ICD10:G47.419|ICD9:347.0|MedDRA:10028713|ICD10:G47.4|EFO:0000614|Orphanet:2073|GARD:0007162|ICD10:G47.41														https://rarediseases.info.nih.gov/diseases/7162/narcolepsy				owl:Class
MONDO:0021272	biolink:NamedThing	inherited orthostatic hypotension		mondoexuq1wtf												OMIMPS:223360																		owl:Class
MONDO:0015914	biolink:NamedThing	primary orthostatic hypotension	Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.	mondoexuq1wtf	neurogenic orthostatic hypotension											Orphanet:182058|GARD:0012959														https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension				owl:Class
MONDO:0021049	biolink:NamedThing	vulvar neoplasm	A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.	mondoexuq1wtf	vulva neoplasm|vulval neoplasm|vulva tumor|tumor of mammalian vulva|mammalian vulva neoplasm (disease)|tumor of vulva|vulvar neoplasm|mammalian vulva neoplasm|neoplasm of vulva|tumor of the vulva|neoplasm of the vulva|vulvar tumor|neoplasm of mammalian vulva|mammalian vulva tumor											ICD9:239.5|NCIT:C3443|SCTID:126922007																		owl:Class
MONDO:0002187	biolink:NamedThing	vulvar disease	A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.	mondoexuq1wtf	vulval disorder|vulvar disease|disorder of vulva|vulvar disorder											DOID:2059|UMLS:C0042994|NCIT:C27631|MESH:D014845|SCTID:5089007																		owl:Class
MONDO:0001519	biolink:NamedThing	entropion	The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)	mondoexuq1wtf	entropion|entropion (disease)		entropion (disease)									MESH:D004774|ICD9:374.00|COHD:379020|SCTID:33168009|HP:0000621|UMLS:C0014390|DOID:12397																		owl:Class
MONDO:0003382	biolink:NamedThing	eyelid disease	A disease involving the eyelid.	mondoexuq1wtf	eyelid disease|disease or disorder of eyelid|disorder of eyelid|eyelid disorder|disease of eyelid|eyelid disease or disorder											ICD10:H00|SCTID:60113004|DOID:530|ICD10:H02.9|MESH:D005141|ICD9:374.9|NCIT:C26768|ICD9:374.89																		owl:Class
MONDO:0018838	biolink:NamedThing	lissencephaly spectrum disorders	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.	mondoexuq1wtf	macrogyria|large gyri of cerebrum|Broad gyri of cerebrum|lissencephaly|lissencephaly (disease)|pachygyria					Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping.						ICD10:Q04.3|NCIT:C103921|GARD:0012291|GARD:0007300|HP:0001339|ICD10:Q04.8|SCTID:204036008|DOID:0050453|MedDRA:10048911|MESH:D054082|Orphanet:48471|UMLS:C0266463|OMIMPS:607432														https://github.com/monarch-initiative/mondo/issues/1312				owl:Class
MONDO:0015220	biolink:NamedThing	syndrome with a central nervous system malformation as major feature		mondoexuq1wtf												Orphanet:108991|UMLS:CN197562																		owl:Class
MONDO:0009797	biolink:NamedThing	orotic aciduria	An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.	mondoexuq1wtf	oroticaciduria 1|orotic aciduria without megaloblastic Anemia|OPRT and ODC deficiency|hereditary orotic aciduria|uridine monophosphate synthetase deficiency|UMP synthtase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|orotic aciduria II (formerly)|orotidylic decarboxylase deficiency|UMPS|Umps deficiency|oroticaciduria|uridine monophosphate synthase deficiency|orotic aciduria type 1|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotic aciduria|Ump synthase deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria 1											Orphanet:30|ICD10:E79.8|OMIM:258900|SCTID:47641009|NCIT:C98944|MedDRA:10052621|DOID:0050833|GARD:0005429																		owl:Class
MONDO:0019238	biolink:NamedThing	inborn disorder of pyrimidine metabolism	ANPM	mondoexuq1wtf	pyrimidine metabolic disorder|disorder of pyrimidine metabolism|inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|rare inborn error of pyrimidine nucleobase metabolic process											MedDRA:10070969|DOID:0050832|Orphanet:79193																		owl:Class
MONDO:0017561	biolink:NamedThing	congenital genu flexum		mondoexuq1wtf												ICD10:Q68.2|Orphanet:295232																		owl:Class
MONDO:0006565	biolink:NamedThing	juvenile dermatitis herpetiformis	Dermatitis herpetiformis in children	mondoexuq1wtf												DOID:8507|SCTID:5906000|ICD10:L12.2|ICD9:694.2|EFO:1000719|UMLS:C0152092																		owl:Class
MONDO:0015614	biolink:NamedThing	dermatitis herpetiformis	Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.	mondoexuq1wtf	dermatosis herpetiformis|dermatitis herpetiformis|Duhring's disease|Durhing-Brocq disease											DOID:8505|ICD9:694.0|ICD10:L13.0|MedDRA:10012468|EFO:1000684|NCIT:C26742|Orphanet:1656|COHD:140487|Wikipedia:Dermatitis_herpetiformis|MESH:D003874|SCTID:111196000|UMLS:C0011608																		owl:Class
MONDO:0007361	biolink:NamedThing	C1 inhibitor deficiency		mondoexuq1wtf	complement component 4, partial deficiency OF											UMLS:C1852700|OMIM:120790|DOID:0060002|ICD10:D84.1|Orphanet:459353																		owl:Class
MONDO:0027749	biolink:NamedThing	serpinopathy		mondoexuq1wtf												Orphanet:250805																		owl:Class
MONDO:0013578	biolink:NamedThing	DYRK1A-related intellectual disability syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.	mondoexuq1wtf	intellectual disability, autosomal dominant type 7|mental retardation, autosomal dominant 7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7|autosomal dominant mental retardation 7|MRD7|mental retardation, autosomal dominant type 7|autosomal dominant intellectual disability 7											OMIM:614104|Orphanet:464306|DOID:0070037|UMLS:C3279839																		owl:Class
MONDO:0000508	biolink:NamedThing	syndromic intellectual disability	A intellectual disability that is part of a larger syndrome.	mondoexuq1wtf	syndromic intellectual disability|syndrome associated with intellectual disability											DOID:0050888|UMLS:CN225415																		owl:Class
MONDO:0012744	biolink:NamedThing	dilated cardiomyopathy 1Y	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	mondoexuq1wtf	CMD1Y|left ventricular noncompaction 9|TPM1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TPM1|cardiomyopathy, dilated, type 1Y|dilated cardiomyopathy type 1Y|cardiomyopathy, dilated, 1Y											MESH:C567507|ICD10:I42.0|OMIM:611878|DOID:0110457																		owl:Class
MONDO:0015470	biolink:NamedThing	familial isolated dilated cardiomyopathy	Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.	mondoexuq1wtf	familial or idiopathic dilated cardiomyopathy											ICD10:I42.0|Orphanet:154|UMLS:CN199609																		owl:Class
MONDO:0019340	biolink:NamedThing	scleroderma	Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).	mondoexuq1wtf	Scleroderma|scleroderma (disease)|scleroderma|dermatosclerosis		scleroderma (disease)									MedDRA:10039710|HP:0100324|NCIT:C26746|Orphanet:801|DOID:419																		owl:Class
MONDO:0005964	biolink:NamedThing	sphenoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.	mondoexuq1wtf	sphenoidal sinusitis|sphenoid bone sinusitis|sinusitis of sphenoid bone											NCIT:C35031|ICD10:J32.3|UMLS:C0037886|MESH:D015524|SCTID:13266007|EFO:0007489|DOID:10794																		owl:Class
MONDO:0023369	biolink:NamedThing	disease of facial skeleton	A disease that involves the facial skeleton.	mondoexuq1wtf	disease of facial skeleton|maxillofacial anomaly|maxillo-facial disease|disorder of facial skeleton|facial skeleton disease or disorder|disease or disorder of facial skeleton|facial skeleton disease																													owl:Class
MONDO:0008778	biolink:NamedThing	amyloidosis, cutaneous bullous		mondoexuq1wtf	amyloidosis, cutaneous bullous											ICD9:277.39|SCTID:38606009|OMIM:204900|UMLS:C0268399|MESH:C562644																		owl:Class
MONDO:0003909	biolink:NamedThing	Bartholin gland adenomyoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.	mondoexuq1wtf	major vestibular gland adenomyoma|adenomyoma of major vestibular gland|Bartholin gland adenomyoma											NCIT:C40300|UMLS:C1511049|DOID:6518																		owl:Class
MONDO:0002193	biolink:NamedThing	Bartholin gland benign neoplasm	A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	mondoexuq1wtf	tumor of Bartholin's gland|major vestibular gland benign neoplasm|Bartholin gland neoplasm											DOID:2068|SCTID:189130001																		owl:Class
MONDO:0010265	biolink:NamedThing	Simpson-Golabi-Behmel syndrome type 2	Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.	mondoexuq1wtf	SGBS2|lethal variant of Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2|Sgbs2|OFD1 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1											OMIM:300209|Orphanet:79022|ICD10:Q87.3|UMLS:C1846175|DOID:0080342|MESH:C564567																		owl:Class
MONDO:0010731	biolink:NamedThing	Simpson-Golabi-Behmel syndrome	Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.	mondoexuq1wtf	SGB syndrome|dysplasia gigantism syndrome, X-linked|Sara Angers syndrome|X-linked dysplasia gigantism syndrome|SGBS|SDYS|Golabi-Rosen syndrome|DGSX|Sgbs											NCIT:C131002|GARD:0007649|MESH:C537340|SCTID:439143004|ICD9:759.89|ICD10:Q87.3|Orphanet:373														https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome				owl:Class
MONDO:0012727	biolink:NamedThing	mucocutaneous lymph node syndrome	Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.	mondoexuq1wtf	acute febrile mucocutaneous lymph node syndrome [MCLS]|infantile polyarteritis nodosa|infantile polyarteritis|MLNS|Kawasaki disease|Kd|mucocutaneous lymph node syndrome|Kawasaki's disease|acute febrile mucocutaneous lymph node syndrome|acute febrile MCLS|Kawasaki syndrome											ICD10:M30.3|Orphanet:2331|GARD:0006816|DOID:13378|OMIM:611775|MESH:D009080|NCIT:C34825|EFO:0004246|UMLS:C0026691|SCTID:75053002|MedDRA:10023320|ICD9:446.1																		owl:Class
MONDO:0002052	biolink:NamedThing	lymphadenitis	Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.	mondoexuq1wtf	adenitis|chronic adenitis|lymph nodeitis|lymphadenitis|chronic lymphadenitis|lymphadenitis (disease)|inflammation of lymph node|Inflammation of lymph node|lymph node inflammation|lymph gland infection|acute adenitis|acute lymphadenitis		lymphadenitis (disease)									ICD10:L04.9|ICD9:289.1|UMLS:C0157705|ICD10:I88.1|SCTID:41174002|HP:0002840|DOID:1602|UMLS:C0154304|UMLS:C0024205|ICD10:L04|ICD10:I88.9|MESH:D008199|ICD9:683|NCIT:C26821																		owl:Class
MONDO:0013125	biolink:NamedThing	CLAPO syndrome	CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).	mondoexuq1wtf	Lopez-Gutierrez syndrome|capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Clapo											SCTID:717765001|MESH:C567763|ICD10:Q87.3|Orphanet:168984|UMLS:C2751313|OMIM:613089																		owl:Class
MONDO:0019716	biolink:NamedThing	overgrowth syndrome	A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.	mondoexuq1wtf												UMLS:CN206621|UMLS:C2986703|Orphanet:93460|NCIT:C94828|ICD10:Q87.3																		owl:Class
MONDO:0011861	biolink:NamedThing	breath-holding Spells		mondoexuq1wtf	breath-holding Spells|Bhs											OMIM:607578																		owl:Class
MONDO:0010549	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked dominant 1	Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.	mondoexuq1wtf	X-linked Charcot-Marie-Tooth disease type 1|GJB1 Charcot-Marie-Tooth disease type X|HMSN, X-linked|CMT2, formerly|Charcot-Marie-Tooth neuropathy X-linked dominant 1|CMTX|Charcot Marie Tooth disease X-linked 1|CMTX1|hereditary motor and sensory neuropathy, X-linked|Charcot-Marie-Tooth disease X-linked dominant type 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|Charcot-Marie-Tooth neuropathy, X-linked, 1|CMT2|CMT1X|Charcot-Marie-Tooth disease, X-linked dominant, type 1|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth disease, X-linked, 1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|CMTX 1|Charcot-Marie-Tooth disease, X-linked dominant, 1											UMLS:C0393808|GARD:0001258|ICD10:G60.0|SCTID:763455008|OMIM:302800|Orphanet:101075|NCIT:C129068|DOID:0110209																		owl:Class
MONDO:0018994	biolink:NamedThing	Charcot-Marie-Tooth disease type X	A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.	mondoexuq1wtf	CMTX|COWCK|X-linked Charcot-Marie-Tooth disease|X-linked hereditary motor and sensory neuropathy											SCTID:230552007|GARD:0012444|DOID:0050542|ICD10:G60.0|UMLS:CN205436|ICD9:356.9|Orphanet:64747																		owl:Class
MONDO:0014287	biolink:NamedThing	short-rib thoracic dysplasia 11 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.	mondoexuq1wtf	SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly											OMIM:615633|UMLS:C3810200|DOID:0110095|ICD10:Q77.2																		owl:Class
MONDO:0019664	biolink:NamedThing	short rib-polydactyly syndrome, Verma-Naumoff type	Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.	mondoexuq1wtf	short rib-polydactyly syndrome type 3|Verma Naumoff syndrome|short rib-polydactyly syndrome type III|SRPS type 3|short rib polydactyly syndrome Verma Naumoff type|polydactyly with neonatal chondrodystrophy type III											GARD:0004835|ICD9:759.89|SCTID:254051008|MESH:C537602|ICD10:Q77.2|UMLS:C0432197|Orphanet:93271																		owl:Class
MONDO:0016028	biolink:NamedThing	erythromelalgia	Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.	mondoexuq1wtf												MedDRA:10015284|ICD10:I73.81|UMLS:C0014804|COHD:134380|ICD9:443.82|MESH:D004916|SCTID:37151006|ICD10:I73.8|DOID:9240|Orphanet:1956|NCIT:C34593																		owl:Class
MONDO:0015365	biolink:NamedThing	autosomal dominant hereditary sensory and autonomic neuropathy	Autosomal dominant form of hereditary sensory and autonomic neuropathy.	mondoexuq1wtf	hereditary sensory and autonomic neuropathy, autosomal dominant											ICD10:G60.8|Orphanet:140474|UMLS:CN228932																		owl:Class
MONDO:0012972	biolink:NamedThing	febrile seizures, familial, 10		mondoexuq1wtf	FEB10|convulsions, familial febrile, 10|febrile seizures, familial, 10											UMLS:C2675251|DOID:0111304|MESH:C567218|OMIM:612637																		owl:Class
MONDO:0000032	biolink:NamedThing	febrile seizures, familial		mondoexuq1wtf	seizures, familial febrile											DC:0000159|OMIMPS:121210|DOID:0111297																		owl:Class
MONDO:0007953	biolink:NamedThing	Binder syndrome	A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.	mondoexuq1wtf	Maxillonasal dysostosis|binder type maxillonasal dysplasia|MAXILLONASAL dysplasia, BINDER type|Binder syndrome|maxillonasal dysplasia|binder syndrome											GARD:0006992|DOID:14683|Orphanet:1248|SCTID:715985008|UMLS:C0220692|OMIM:155050|ICD10:Q75.8|MESH:C536036																		owl:Class
MONDO:0002198	biolink:NamedThing	vulvar glandular neoplasm	A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.	mondoexuq1wtf	mammalian vulva glandular cell neoplasm|vulvar glandular neoplasm|vulvar glandular tumor											DOID:2076|UMLS:C1520082|NCIT:C40292																		owl:Class
MONDO:0012964	biolink:NamedThing	chromosome 15q26-qter deletion syndrome	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	mondoexuq1wtf	distal monosomy 15q|telomeric 15q deletion syndrome|chromosome 15q26-qter deletion syndrome|monosomy 15q26|Drayer syndrome|15q26 deletion syndrome|distal 15q deletion syndrome|distal monosomy type 15q											ICD10:Q93.5|DOID:0060397|Orphanet:1596|MESH:C567232|OMIM:612626|UMLS:C2675463|SCTID:766050000																		owl:Class
MONDO:0016913	biolink:NamedThing	partial deletion of the long arm of chromosome 15		mondoexuq1wtf	15q monosomy|partial deletion of chromosome 15q|partial monosomy of the long arm of chromosome 15|chromosome 15q deletion|deletion 15q|partial monosomy 15q|monosomy 15q|partial monosomy of chromosome 15q|15q deletion|partial deletion of the long arm of chromosome type 15											GARD:0001746|ICD10:Q93.5|Orphanet:262119|MESH:C538038																		owl:Class
MONDO:0014682	biolink:NamedThing	thyroid cancer, nonmedullary, 5	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.	mondoexuq1wtf	thyroid cancer, nonmedullary, type 5|NMTC5|HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 5|thyroid cancer, nonmedullary caused by mutation in HABP2											UMLS:C4225292|OMIM:616535																		owl:Class
MONDO:0005034	biolink:NamedThing	thyroid gland follicular carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.	mondoexuq1wtf	follicular carcinoma of the thyroid|carcinoma of thyroid follicle|follicular thyroid carcinoma|follicular adenocarcinoma (morphologic abnormality)|follicular adenocarcinoma, well differentiated|follicular carcinoma of thyroid|well-differentiated follicular adenocarcinoma|well-differentiated follicular carcinoma|thyroid gland follicular carcinoma|follicular cancer of thyroid gland|thyroid gland follicular cancer|follicular cancer of thyroid|follicular carcinoma of the thyroid gland|follicular thyroid cancer|follicular adenocarcinoma|carcinoma, follicular cell, malignant|thyroid gland adenocarcinoma|follicular cancer of the thyroid|follicular cancer of the thyroid gland|follicular carcinoma|follicular carcinoma of thyroid gland|follicular thyroid gland carcinoma|thyroid follicular carcinoma|thyroid follicle carcinoma|follicular adenocarcinoma, well differentiated (morphologic abnormality)											EFO:0000501|MESH:D018263|NCIT:C8054|ICDO:8330/3|SCTID:255028004|ONCOTREE:THFO|DOID:3962|HP:0006731|ICDO:8331/3																		owl:Class
MONDO:0018308	biolink:NamedThing	liver mesenchymal hamartoma	A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.	mondoexuq1wtf	liver MH|MHL|hepatic cystic hamartoma|Von Meyenburg complexes disease|mesenchymal hamartoma of the liver|mesenchymal hamartoma of liver|biliary hamartoma|VMC|liver mesenchymal hamartoma|hepatic mesenchymal hamartoma					Editor note: in NCIT this is classified as non-neoplastic						GARD:0002651|SCTID:715397000|UMLS:C0334091|UMLS:C1333971|Orphanet:386|NCIT:C5751|ICD10:D13.4														https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma				owl:Class
MONDO:0024478	biolink:NamedThing	mesenchymal hamartoma		mondoexuq1wtf	mesenchymal hamartoma											UMLS:C0334090|NCIT:C40427																		owl:Class
MONDO:0019832	biolink:NamedThing	acquired pituitary hormone deficiency	An instance of hypopituitarism that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired hypopituitarism					Editor note: check this						Orphanet:95502|ICD10:E23.0																		owl:Class
MONDO:0024464	biolink:NamedThing	pituitary hormone deficiency, combined, 1	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.	mondoexuq1wtf	combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined 1|pituitary hormone deficiency, combined, 1|POU1F1 combined pituitary hormone deficiencies, genetic form|CPHD1											OMIM:613038|MESH:C567803|GARD:0010601|UMLS:C2751608																		owl:Class
MONDO:0013099	biolink:NamedThing	combined pituitary hormone deficiencies, genetic form	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.	mondoexuq1wtf	genetic hypopituitarism|pituitary hormone deficiency, combined|familial congenital hypopituitarism|combined pituitary hormone deficiencies, genetic forms|familial hypopituitarism|multiple pituitary hormone deficiencies, genetic forms											GARD:0010602|SCTID:718182008|OMIMPS:613038|Orphanet:95494|GARD:0002252|ICD10:E23.0														https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism				owl:Class
MONDO:0001832	biolink:NamedThing	bacterial esophagitis	An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.	mondoexuq1wtf	bacterial esophagitis											SCTID:235601001|NCIT:C27106|UMLS:C0341108|DOID:13921																		owl:Class
MONDO:0001409	biolink:NamedThing	esophagitis	An acute or chronic inflammatory disease affecting the esophageal wall.	mondoexuq1wtf	esophagus inflammation|esophagitis|acute esophagitis|inflammation of esophagus|esophagitis (disease)		esophagitis (disease)									ICD9:530.10|ICD10:K20|ICD9:530.12|MESH:D004941|DOID:11963|SCTID:16761005|ICD9:530.1|HP:0100633|UMLS:C0014868|NCIT:C9224|ICD10:K20.9|UMLS:C0149882																		owl:Class
MONDO:0014419	biolink:NamedThing	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	mondoexuq1wtf	Poretti-Boltshauser syndrome|PTBHS|PORETTI-Boltshauser syndrome											OMIM:615960|Orphanet:370022|ICD10:G11.1|UMLS:C4014821																		owl:Class
MONDO:0018451	biolink:NamedThing	X-linked distal hereditary motor neuropathy	X-linked form of distal hereditary motor neuropathy.	mondoexuq1wtf	X-linked dHMN|distal hereditary motor neuropathy, X-linked|X-linked distal spinal muscular atrophy											ICD10:G12.2|Orphanet:404538																		owl:Class
MONDO:0000425	biolink:NamedThing	X-linked disease	X-linked form of disease.	mondoexuq1wtf	X-linked inherited disorder|X linked genetic diseases|X-linked disease or disorder|X-linked genetic disease|genetic diseases, X chromosome linked|X-linked inherited disease|genetic disease, X-linked|diseases, X-linked genetic|disease or disorder, X-linked|X-linked genetic diseases|disease, X-linked genetic|genetic diseases, X-chromosome linked|X-linked hereditary disorder|disease, X-linked|genetic diseases, X linked|X-linked hereditary disease											UMLS:C1138434|SCTID:128430005|DOID:0050735|MESH:D040181|ICD9:799.89|UMLS:C2828000|NCIT:C85865																		owl:Class
MONDO:0016202	biolink:NamedThing	autosomal dominant rhegmatogenous retinal detachment	Autosomal dominant form of rhegmatogenous retinal detachment.	mondoexuq1wtf	rhegmatogenous retinal detachment, autosomal dominant											UMLS:C1836081|ICD10:H33.0|Orphanet:209867																		owl:Class
MONDO:0012287	biolink:NamedThing	Stickler syndrome, type I, nonsyndromic ocular		mondoexuq1wtf	Stickler syndrome, atypical|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, type I, predominantly ocular|rhegmatogenous retinal detachment, autosomal dominant					Editor note: check this						UMLS:C1836080|OMIM:609508																		owl:Class
MONDO:0016886	biolink:NamedThing	partial deletion of the short arm of chromosome 4		mondoexuq1wtf	partial monosomy of chromosome 4p|partial monosomy of the short arm of chromosome 4|partial deletion of chromosome 4p|partial deletion of the short arm of chromosome type 4											ICD10:Q93.3|Orphanet:261884																		owl:Class
MONDO:0016869	biolink:NamedThing	partial deletion of chromosome 4		mondoexuq1wtf	partial monosomy of chromosome 4|partial deletion of chromosome type 4											Orphanet:261781																		owl:Class
MONDO:0008327	biolink:NamedThing	exfoliation syndrome	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.	mondoexuq1wtf	Pseudoexfoliation syndrome|XFS|exfoliation syndrome|Pseudoexfoliation glaucoma|XFG|Pseudoexfoliation of the lens|exfoliation glaucoma											COHD:437273|NCIT:C129025|SCTID:111514006|UMLS:C0206368|ICD9:365.52|OMIM:177650|MESH:D017889|DOID:13641|EFO:0004235																		owl:Class
MONDO:0008832	biolink:NamedThing	right atrial isomerism	A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.	mondoexuq1wtf	heterotaxy, Visceroatrial, autosomal recessive|asplenia with cardiovascular anomalies|right atrial isomerism|right isomerism|bilateral right-sidedness sequence|asplenia syndrome|RAI|splenic agenesis syndrome|Ivemark syndrome|right atrial isomerism (disease)|polysplenia syndrome|Vah, autosomal recessive|Polyasplenia		right atrial isomerism (disease)									Orphanet:97548|DOID:0060856|ICD10:Q20.6|OMIM:208530|GARD:0006795|MedDRA:10068335|HP:0011536																		owl:Class
MONDO:0017131	biolink:NamedThing	genetic cardiac anomaly		mondoexuq1wtf												Orphanet:271853																		owl:Class
MONDO:0015574	biolink:NamedThing	chronic cutaneous lupus erythematosus	Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.	mondoexuq1wtf	cutaneous lupus erythematosus, chronic											ICD10:L93.2|Orphanet:163531|MedDRA:10057929|UMLS:CN226705|ICD10:L93.0																		owl:Class
MONDO:0005282	biolink:NamedThing	cutaneous lupus erythematosus	An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.	mondoexuq1wtf	lupus erythematosus, cutaneous											DOID:0050169|NCIT:C26819|SCTID:7119001|MESH:D008178|EFO:0003834|GARD:0006225|UMLS:C0024137														https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus				owl:Class
MONDO:0014405	biolink:NamedThing	STING-associated vasculopathy with onset in infancy	STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.	mondoexuq1wtf	SAVI|STING-associated vasculopathy, infantile-onset											OMIM:615934|ICD9:279.8|DOID:0111457|ICD10:M35.8|GARD:0012357|SCTID:711164003|Orphanet:425120|UMLS:C4040879|UMLS:C4014722														https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy				owl:Class
MONDO:0019929	biolink:NamedThing	49,XXXXY syndrome	The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.	mondoexuq1wtf	49,XXXXY|XXXXY syndrome											ICD10:Q98.1|SCTID:38847009|UMLS:C0265499|Orphanet:96264|GARD:0005679|ICD9:758.81														https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome				owl:Class
MONDO:0020090	biolink:NamedThing	male infertility due to gonadal dysgenesis		mondoexuq1wtf	Male infertility due to testicular dysgenesis											Orphanet:98313																		owl:Class
MONDO:0009609	biolink:NamedThing	methylcobalamin deficiency type cblG	Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.	mondoexuq1wtf	cblG|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|homocystinuria due to defect in methylation Cbl g|homocystinuria-megaloblastic anemia, cblG complementation type|methylcobalamin deficiency, cblG type|HMAG|methylmalonic aciduria and homocystinuria type cblG|methylcobalamin deficiency Cbl G type|methionine synthase deficiency|functional methionine synthase deficiency type cblG											DOID:0050733|OMIM:250940|EFO:0005597|SCTID:721187005|GARD:0002733|GARD:0003577|ICD10:E72.1|Orphanet:2170														https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type				owl:Class
MONDO:0019737	biolink:NamedThing	thrombotic microangiopathy	The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.	mondoexuq1wtf												ICD9:446.6|ICD10:M31.1|COHD:313800|MedDRA:10043645|UMLS:C2717961|GARD:0012465|SCTID:126729006|Orphanet:93573|MESH:D057049|NCIT:C62605																		owl:Class
MONDO:0013171	biolink:NamedThing	purine nucleoside phosphorylase deficiency	Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.	mondoexuq1wtf	deficiency of inosine phosphorylase|PNPase deficiency|nucleoside phosphorylase deficiency|PNP deficiency|purine nucleoside phosphorylase deficiency|purine-nucleoside phosphorylase deficiency											ICD9:277.2|UMLS:C0268125|ICD10:D81.5|GARD:0004606|DOID:5813|OMIM:613179|NCIT:C3963|MESH:C562587|Orphanet:760|HGNC:7892|SCTID:60743005														https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency				owl:Class
MONDO:0019236	biolink:NamedThing	inborn disorder of purine metabolism	An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.	mondoexuq1wtf	rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder|disorder of purine metabolism											Orphanet:79191|MedDRA:10061476																		owl:Class
MONDO:0010364	biolink:NamedThing	X-linked intellectual disability-retinitis pigmentosa syndrome	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	mondoexuq1wtf	nonspecific mental retardation associated with retinitis pigmentosa|X-linked mental handicap-retinitis pigmentosa syndrome|mental retardation, X-linked, with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|intellectual disability, X-linked, with retinitis pigmentosa|Aldred syndrome|chromosome Xp11.3 deletion syndrome|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|nonspecific intellectual disability associated with retinitis pigmentosa											UMLS:C0795873|ICD10:H35.5|Orphanet:85332|SCTID:719808002|OMIM:300578|GARD:0008360																		owl:Class
MONDO:0054806	biolink:NamedThing	microcephaly 23, primary, autosomal recessive		mondoexuq1wtf	microcephaly 23, PRIMARY, autosomal recessive|MCPH23											OMIM:617985|UMLS:CN244932																		owl:Class
MONDO:0016660	biolink:NamedThing	autosomal recessive primary microcephaly	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	mondoexuq1wtf	MCPH|true microcephaly|microcephaly, primary autosomal recessive|microcephalia vera|microcephaly vera|microcephaly, primary, autosomal recessive											DOID:0070296|DC:0000277|OMIMPS:251200|MESH:C579935|SCTID:715981004|GARD:0012117|ICD10:Q02|Orphanet:2512|UMLS:C3711387														https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly				owl:Class
MONDO:0003818	biolink:NamedThing	childhood mature teratoma of the ovary	A mature teratoma that arises from the ovary and occurs in children.	mondoexuq1wtf	pediatric mature teratoma of ovary|pediatric ovarian mature teratoma|mature ovarian teratoma of childhood|pediatric mature teratoma of the ovary|childhood mature teratoma of ovary|pediatric mature ovarian teratoma|childhood ovarian mature teratoma|childhood mature ovarian teratoma											DOID:6229|UMLS:C1332991|NCIT:C6548																		owl:Class
MONDO:0003819	biolink:NamedThing	childhood teratoma of the ovary	A mature or immature teratoma that arises from the ovary and occurs in children.	mondoexuq1wtf	pediatric teratoma of the ovary|childhood teratoma of the ovary|pediatric teratoma of ovary|pediatric ovarian teratoma|childhood teratoma of ovary|childhood ovarian teratoma|ovarian teratoma of childhood											UMLS:C1332992|DOID:6230|NCIT:C6554																		owl:Class
MONDO:0004086	biolink:NamedThing	ciliary body epithelioid cell melanoma	A epithelioid cell melanoma that involves the ciliary body.	mondoexuq1wtf	epithelioid cell melanoma of the ciliary body|epithelioid cell melanoma of ciliary body|ciliary body epithelioid cell melanoma											NCIT:C6119|DOID:7042|UMLS:C1333050																		owl:Class
MONDO:0003912	biolink:NamedThing	malignant ciliary body melanoma	A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.	mondoexuq1wtf	melanoma of ciliary body|malignant melanoma of ciliary body|melanoma (disease) of ciliary body|melanoma of the ciliary body|ciliary body melanoma (disease)|ciliary body malignant melanoma|malignant melanoma of the ciliary body|ciliary body melanoma										MONDO:0021434	UMLS:C0346379|DOID:6524|NCIT:C4558|ICD9:190.8|SCTID:255015006																		owl:Class
MONDO:0012992	biolink:NamedThing	pancreatic insufficiency-anemia-hyperostosis syndrome	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	mondoexuq1wtf	pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis											Orphanet:199337|SCTID:722207000|MESH:C567195|OMIM:612714|UMLS:C2675184|UMLS:C4302747																		owl:Class
MONDO:0019403	biolink:NamedThing	congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.	mondoexuq1wtf	CDA|anemia, congenital dyserythropoietic|congenital dyshaematopoietic anaemia|dyserythropoietic anemia, congenital											DOID:1338|UMLS:C0002876|OMIMPS:224120|MESH:D000742|ICD10:D64.4|ICD9:285.8|GARD:0001999|SCTID:52951008|NCIT:C84646|Orphanet:85																		owl:Class
MONDO:0014379	biolink:NamedThing	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.	mondoexuq1wtf	autosomal dominant mental retardation 28|MRD28|ADNP syndrome|intellectual disability, autosomal dominant 28|Helsmoortel-VAN DER AA syndrome|autosomal dominant intellectual disability 28|HVDAS|mental retardation, autosomal dominant 28											OMIM:615873|GARD:0012931|Orphanet:404448|ICD10:Q87.0|SCTID:766824003|DOID:0070058|UMLS:C4014538																		owl:Class
MONDO:0100172	biolink:NamedThing	intellectual disability, autosomal dominant		mondoexuq1wtf	autosomal dominant intellectual disability|mental retardation, autosomal dominant							http://orcid.org/0000-0001-5208-3432				OMIMPS:156200																		owl:Class
MONDO:0007490	biolink:NamedThing	carpotarsal osteochondromatosis	Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.	mondoexuq1wtf	dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|osteochondromatosis, dominant carpotarsal|dominant carpotarsal osteochondromatosis|Maroteaux Le Merrer Bensahel syndrome|Maroteaux-Le Merrer-Bensahel syndrome											OMIM:127820|ICD10:D16.9|UMLS:C1300233|GARD:0001128|MESH:C565076|Orphanet:2767|SCTID:389272007														https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis				owl:Class
MONDO:0019708	biolink:NamedThing	primary bone dysplasia with disorganized development of skeletal components		mondoexuq1wtf	primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components											Orphanet:93450																		owl:Class
MONDO:0007115	biolink:NamedThing	angioma serpiginosum, autosomal dominant		mondoexuq1wtf	autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant											UMLS:C1970130|GARD:0010189|MESH:C536365|OMIM:106050														https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant				owl:Class
MONDO:0019803	biolink:NamedThing	angioma serpiginosum	Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.	mondoexuq1wtf	angioma serpiginosum of skin											Orphanet:95429|UMLS:CN206759|ICD10:L81.7|NCIT:C3926|SCTID:49465005|DOID:4028																		owl:Class
MONDO:0007640	biolink:NamedThing	Sorsby's fundus dystrophy	Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.	mondoexuq1wtf	fundus dystrophy, pseudoinflammatory, of Sorsby|Sorsby fundus dystrophy|macular dystrophy, hemorrhagic|pseudoinflammatory fundus dystrophy of Sorsby|hemorrhagic macular dystrophy|SFD|Sorsby pseudoinflammatory fundus dystrophy|Sorsby's pseudoinflammatory macular dystrophy											ICD10:H35.5|SCTID:193410003|MESH:C564992|DOID:0090114|OMIM:136900|GARD:0010511|Orphanet:59181																		owl:Class
MONDO:0020244	biolink:NamedThing	unclassified primitive or secondary maculopathy		mondoexuq1wtf												Orphanet:98666																		owl:Class
MONDO:0002926	biolink:NamedThing	clear cell sarcoma	A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.	mondoexuq1wtf	clear cell sarcoma (morphologic abnormality)|chordoid sarcoma|melanoma, malignant, of soft parts|malignant melanoma of the soft parts|malignant melanoma of soft tissues|adult soft part clear cell sarcoma|clear cell sarcoma - not kidney|malignant melanoma of soft parts|clear cell sarcoma of soft parts|clear cell sarcoma of soft tissue|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)											ONCOTREE:CCS|UMLS:C0206651|DOID:4233|SCTID:402561003|NCIT:C3745|ICDO:9044/3|EFO:0008498|ICD9:171.9|MESH:D018227																		owl:Class
MONDO:0018078	biolink:NamedThing	soft tissue sarcoma	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.	mondoexuq1wtf	sarcoma of soft tissue|sarcoma of the soft tissue|malignant soft tissue tumor|connective tissue sarcoma|soft part sarcoma|malignant mesenchymal tumor|non-Rhabdo. soft tissue sarcoma|soft tissue sarcoma											SCTID:424952003|Orphanet:3394|GARD:0004898|UMLS:CN204398|EFO:1001968|NCIT:C9306																		owl:Class
MONDO:0006091	biolink:NamedThing	appendix neuroendocrine tumor G1	A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	vermiform appendix neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the appendix|vermiform appendix NET G1|appendiceal carcinoid tumor|vermiform appendix carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of vermiform appendix|appendix carcinoid tumor|appendix NET G1 (carcinoid)|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of appendix|appendix carcinoid endocrine tumour|appendix NET G1|appendix neuroendocrine tumor G1 (carcinoid)|vermiform appendix carcinoid tumor											NCIT:C4138|COHD:437238|EFO:1000092|SCTID:253002004|UMLS:C0334298|ICD9:209.11|DOID:0050911|ICDO:8240/1																		owl:Class
MONDO:0015066	biolink:NamedThing	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.	mondoexuq1wtf	appendix neuroendocrine tumor|appendix well differentiated endocrine tumor|appendiceal NEN|appendix NET|well-differentiated neuroendocrine tumor of the appendix|neuroendocrine neoplasm of appendix|appendiceal neuroendocrine neoplasm|NEN of appendix|appendix well differentiated endocrine tumor/carcinoma|appendiceal neuroendocrine tumor											Orphanet:100079|ICD10:C18.1|ONCOTREE:AWDNET|ICD10:D37.3|SCTID:725167001|NCIT:C96422																		owl:Class
MONDO:0010472	biolink:NamedThing	developmental and epileptic encephalopathy, 36		mondoexuq1wtf	CDG Is|congenital disorder of glycosylation type 1s|EIEE36|congenital disorder of glycosylation type Is|CDG1S|CDG syndrome type Is|congenital disorder of glycosylation, type Is|DEE36|ALG13-CDG|epileptic encephalopathy, early infantile, 36|CDG-Is											DOID:0080470|ICD10:E77.8|UMLS:C3550904|GARD:0012401|Orphanet:324422|SCTID:733451007|OMIM:300884																		owl:Class
MONDO:0012589	biolink:NamedThing	Pitt-Hopkins syndrome	Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.	mondoexuq1wtf	Pitt Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|Pitt-Hopkins syndrome|intellectual disability, Syndromal, with intermittent hyperventilation|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea|PTHS|encephalopathy, Severe epileptic, with autonomic dysfunction											GARD:0004372|ICD9:758.5|SCTID:702344008|OMIM:610954|UMLS:C1970431|DOID:0060488|NCIT:C129872|Orphanet:2896|ICD10:Q87.0|MESH:C537403														https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome				owl:Class
MONDO:0022769	biolink:NamedThing	ciliary dyskinesia-bronchiectasis		mondoexuq1wtf												GARD:0001362														https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis				owl:Class
MONDO:0019649	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis		mondoexuq1wtf	idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis											ICD10:N04.1|Orphanet:93206|UMLS:CN206521																		owl:Class
MONDO:0019067	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome	Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.	mondoexuq1wtf												ICD10:N04.0|Orphanet:69061																		owl:Class
MONDO:0004541	biolink:NamedThing	pseudoglandular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.	mondoexuq1wtf	testicular seminoma, pseudoglandular variant											UMLS:C1515293|NCIT:C40958|DOID:8358																		owl:Class
MONDO:0003669	biolink:NamedThing	testicular seminoma	A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.	mondoexuq1wtf	seminomatous germ cell tumor of testis|testicular seminoma Pure|seminoma of testis|testicular seminoma|seminoma of the testis|testicular seminomatous germ cell tumor|testicular seminoma (disease)|seminoma testis|testis seminoma											GARD:0004792|EFO:0003101|NCIT:C7328|HP:0100617|Orphanet:842|ICD10:C62.9|DOID:5842|ICD9:186.9|SCTID:255107005														https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma				owl:Class
MONDO:0014659	biolink:NamedThing	infantile liver failure syndrome 2	Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.	mondoexuq1wtf	infantile liver failure syndrome 2|infantile liver failure caused by mutation in NBAS|NBAS infantile liver failure|infantile liver failure syndrome type 2|ILFS2											GARD:0013113|OMIM:616483|UMLS:CN232144																		owl:Class
MONDO:0000023	biolink:NamedThing	infantile liver failure		mondoexuq1wtf	liver failure, infantile|fever-associated acute infantile liver failure syndrome|infantile liver failure syndrome					OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb).						UMLS:CN228161|OMIMPS:615438|DC:0000134|Orphanet:464724																		owl:Class
MONDO:0012249	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 2	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	mondoexuq1wtf	COCA2|familial non-polyposis colon cancer type 2|Hereditary nonpolyposis colorectal cancer type 2|Hereditary non-polyposis colon cancer type 2|colon cancer, familial nonpolyposis, type 2|Lynch 2 syndrome|colorectal cancer, hereditary nonpolyposis, type 2|HNPCC2											NCIT:C6726|MESH:D055847|OMIM:609310|DOID:0070274																		owl:Class
MONDO:0008160	biolink:NamedThing	osteosclerosis with ichthyosis and fractures		mondoexuq1wtf	osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis											MESH:C563483|UMLS:C1833697|OMIM:166740																		owl:Class
MONDO:0001186	biolink:NamedThing	depersonalization disorder	A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.	mondoexuq1wtf	neurotic derealization											GARD:0006260|NCIT:C94331|COHD:437244|ICD9:300.6|DOID:11038|SCTID:70764005														https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder				owl:Class
MONDO:0001160	biolink:NamedThing	dissociative disorder	A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.	mondoexuq1wtf	dissociative disease|dissociative reaction											ICD9:300.15|MESH:D004213|ICD10:F44.9|COHD:434889|DOID:10935|ICD9:300.9|NCIT:C92197|ICD10:F48.9																		owl:Class
MONDO:0008893	biolink:NamedThing	C syndrome	C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	mondoexuq1wtf	Opitz C trigonocephaly|Opitz trigonocephaly C syndrome|trigonocephaly syndrome|trigonocephaly C syndrome|C syndrome|Opitz trigonocephaly syndrome|OTCS											DOID:0111581|ICD10:Q87.8|MESH:C537418|GARD:0005978|Orphanet:1308|SCTID:715409005|UMLS:C0796095|OMIM:211750														https://rarediseases.info.nih.gov/diseases/5978/c-syndrome				owl:Class
MONDO:0002749	biolink:NamedThing	extracranial neuroblastoma	A neuroblastoma arising from an anatomic site other than the brain.	mondoexuq1wtf	extracranial neuroblastoma											NCIT:C5437|UMLS:C1333499|DOID:371																		owl:Class
MONDO:0005072	biolink:NamedThing	neuroblastoma	Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.	mondoexuq1wtf	neuroblastoma, malignant|neural Crest tumor, malignant|NB|neuroblastoma (Schwannian Stroma-poor)|neuroblastoma					NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features.						DOID:769|Orphanet:635|SCTID:432328008|GARD:0007185|ONCOTREE:NBL|EFO:0000621|MESH:D009447|UMLS:CN205405|UMLS:C0027819|NIFSTD:birnlex_12631|ICDO:9500/3|NCIT:C3270|ICD10:C74.9|MedDRA:10029260														https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma				owl:Class
MONDO:0010004	biolink:NamedThing	EEC syndrome	EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).	mondoexuq1wtf	RUDIGER syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|Walker-Clodius syndrome|ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|Rudiger syndrome 1											DC:0000689|ICD10:Q82.4|GARD:0002076|MESH:C536189|SCTID:39788007|UMLS:C0406704|NCIT:C148261|UMLS:CN776907|OMIM:268650|Orphanet:1896|DOID:0060782														https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome				owl:Class
MONDO:0009175	biolink:NamedThing	eosinophilic fasciitis	Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.	mondoexuq1wtf	Shulman syndrome|eosinophilic fasciitis (disease)|eosinophilic fasciitis|EF|diffuse fasciitis with eosinophilia		eosinophilic fasciitis (disease)									Orphanet:3165|MedDRA:10014954|ICD9:728.89|OMIM:226350|SCTID:24129002|ICD10:M35.4|GARD:0006351|HP:0045029|NCIT:C112116|UMLS:C0264005																		owl:Class
MONDO:0020122	biolink:NamedThing	acquired idiopathic inflammatory myopathy	An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.	mondoexuq1wtf	idiopathic inflammatory myopathies|IMM|idiopathic inflammatory myopathy, familial|IIm|idiopathic inflammatory myositis											Orphanet:98482|SCTID:702380008|ICD9:359.79|GARD:0009128|NCIT:C116796|UMLS:C0751356																		owl:Class
MONDO:0017305	biolink:NamedThing	syndromic oculocutaneous albinism	A oculocutaneous albinism that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism											UMLS:CN227111|ICD10:E70.3|Orphanet:284811																		owl:Class
MONDO:0019290	biolink:NamedThing	hypopigmentation of the skin	A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.	mondoexuq1wtf	hypomelanoses|hypopigmentation of the skin|hypomelanosis|hypopigmentation of the skin (disease)		hypopigmentation of the skin (disease)									Orphanet:79376|HP:0001010|MedDRA:10040868|MESH:D017496																		owl:Class
MONDO:0019007	biolink:NamedThing	vaginal atresia		mondoexuq1wtf												HP:0000148|MedDRA:10046879|ICD10:Q52.0|Orphanet:65681																		owl:Class
MONDO:0015932	biolink:NamedThing	non-syndromic urogenital tract malformation of female	A non-syndromic urogenital tract malformation that involves the female organism.	mondoexuq1wtf	non-syndromic urogenital tract malformation of female organism|isolated urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|nonsyndromic urogenital tract malformation of female											Orphanet:182117																		owl:Class
MONDO:0013722	biolink:NamedThing	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.	mondoexuq1wtf	HLD8|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|leukodystrophy caused by mutation in POLR3B|POLR3B leukodystrophy											ICD10:G11.1|DOID:0060797|UMLS:C3280644|OMIM:614381																		owl:Class
MONDO:0013006	biolink:NamedThing	isolated growth hormone deficiency type IB	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.	mondoexuq1wtf	isolated Growth hormone deficiency, type 1B|IGHD1B|congenital isolated growth hormone deficiency type IB|IGHD IB|dwarfism of Sindh|isolated growth hormone deficiency type 1B|congenital isolated GH deficiency type IB|IGHD 1B|isolated growth hormone deficiency, type IB|congenital IGHD type IB											MESH:C567564|Orphanet:231671|OMIM:612781|UMLS:C2748571|GARD:0003919|ICD10:E23.0|DOID:0060874														https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b				owl:Class
MONDO:0000050	biolink:NamedThing	isolated congenital growth hormone deficiency		mondoexuq1wtf	ICGHD|congenital IGHD|IGHD|isolated growth hormone deficiency|congenital isolated growth hormone deficiency|congenital isolated GH deficiency|familial isolated growth hormone deficiency|non-acquired isolated growth hormone deficiency											MedDRA:10035083|GARD:0012556|DC:0000229|DOID:0060870|SCTID:2109003|OMIMPS:262400|ICD10:E23.0|Orphanet:631																		owl:Class
MONDO:0001213	biolink:NamedThing	serous glue ear	Chronic form of serous otitis media.	mondoexuq1wtf	serous otitis media, chronic|chronic secretory otitis media, serous|chronic serous otitis media											ICD10:H65.2|SCTID:81564005|ICD10:H65.20|DOID:11181|UMLS:C0155421|ICD9:381.10|ICD9:381.1|COHD:381301|ICD9:381.19																		owl:Class
MONDO:0021203	biolink:NamedThing	serous otitis media		mondoexuq1wtf	SOM|otitis media with effusion|secretory otitis media											SCTID:80327007																		owl:Class
MONDO:0002651	biolink:NamedThing	anal Paget disease	A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).	mondoexuq1wtf	anus Paget disease|Paget's disease of anus|Paget's disease of the anus|anal Paget's disease|anus mammary Paget's disease|Paget disease of the anus|anal Paget disease											UMLS:C1332274|NCIT:C5598|DOID:3446																		owl:Class
MONDO:0008177	biolink:NamedThing	extramammary Paget disease	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.	mondoexuq1wtf	Paget's skin disease|extramammary Paget disease|EMPD|Paget disease Extramammary|cutaneous Paget's disease|Extramammary Paget's disease|Paget's disease of skin|Paget disease, EXTRAMAMMARY|Paget's disease of the skin											GARD:0004192|OMIM:167300|EFO:1000249|MedDRA:10068223|MESH:D010145|UMLS:C0030186|Orphanet:2800|NCIT:C3302|ONCOTREE:EMPD|ICD10:C44.5|ICDO:8542/3|MedDRA:10033366																		owl:Class
MONDO:0014496	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 9	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.	mondoexuq1wtf	mitochondrial complex III deficiency, nuclear type 9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9											UMLS:C4015253|OMIM:616111|DOID:0080118																		owl:Class
MONDO:0020811	biolink:NamedThing	mitochondrial complex III deficiency, nuclear type		mondoexuq1wtf												OMIMPS:124000																		owl:Class
MONDO:0003709	biolink:NamedThing	agoraphobia	An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.	mondoexuq1wtf	fear of open spaces|fear of open spaces (finding)											NCIT:C34362|SCTID:70691001|DOID:593|MESH:D000379|EFO:1001872|ICD10:F40.00|ICD10:F40.0																		owl:Class
MONDO:0004398	biolink:NamedThing	mediastinal schwannoma	A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.	mondoexuq1wtf	mediastinal schwannoma|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|neurilemmoma of the mediastinum|benign schwannoma of the mediastinum|schwannoma of the mediastinum|benign neurilemmoma of mediastinum|neurilemmoma of mediastinum|schwannoma of mediastinum|benign mediastinal schwannoma|benign schwannoma of mediastinum|mediastinal neurilemmoma|mediastinum schwannoma											UMLS:C1334679|DOID:7922|DOID:6175|NCIT:C6643																		owl:Class
MONDO:0056804	biolink:NamedThing	benign neoplasm of peripheral nervous system		mondoexuq1wtf												DOID:0080320																		owl:Class
MONDO:0025136	biolink:NamedThing	tuberculosis, bovine	An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.	mondoexuq1wtf	bovine tuberculosis|Tuberculoses, bovine|bovine Tuberculoses											EFO:1001441|MESH:D014380|UMLS:C0041307																		owl:Class
MONDO:0024913	biolink:NamedThing	cattle disease	Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.	mondoexuq1wtf	cattle disease|diseases, bovine|bovine disease|disease, cattle|disease, bovine|diseases, cattle|bovine diseases											UMLS:C0007453|MESH:D002418																		owl:Class
MONDO:0006485	biolink:NamedThing	uterine carcinosarcoma	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.	mondoexuq1wtf	malignant mixed mesodermal (Mullerian) tumor of the uterus|uterine malignant mixed mesodermal (Mullerian) tumor|uterine carcinosarcoma|carcinosarcoma of the uterus|uterus carcinosarcoma|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Müllerian) tumor|mixed mullerian sarcoma of uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus											EFO:1000613|NCIT:C42700|MESH:D012192|SCTID:702369008|ONCOTREE:UCS|DOID:6171|UMLS:C0280630																		owl:Class
MONDO:0002928	biolink:NamedThing	carcinosarcoma	A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.	mondoexuq1wtf	MMMT|mesodermal mixed tumor|mesodermal mixed tumor (morphologic abnormality)|mixed Mullerian tumor|malignant mixed Mullerian tumor|carcinosarcoma|carcinosarcoma, malignant|mixed mesodermal (mullerian) tumor|mixed tumor, Mullerian|mullerian mixed tumor (morphologic abnormality)|malignant mixed mesodermal (mullerian) tumor|mullerian mixed tumor											UMLS:C0206627|NCIT:C34448|UMLS:C0007140|UMLS:C1334603|MESH:D002296|GARD:0006966|ICDO:8980/3|DOID:4236																		owl:Class
MONDO:0007828	biolink:NamedThing	indifference to pain, congenital, autosomal dominant		mondoexuq1wtf	congenital analgesia, autosomal dominant|MARSIS|Marsili syndrome|indifference to pain, congenital, autosomal dominant|MARSILI syndrome|insensitivity to pain, congenital, autosomal dominant											MESH:C564128|UMLS:C1840219|OMIM:147430																		owl:Class
MONDO:0010822	biolink:NamedThing	Warburg micro syndrome 1	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.	mondoexuq1wtf	RAB3GAP1 Warburg micro syndrome|micro syndrome|Warburg micro syndrome type 1|Warburg micro syndrome caused by mutation in RAB3GAP1|micro syndrome 1|WARBM1|Warburg micro syndrome 1|WARBURG micro syndrome 1											OMIM:600118|ICD10:Q87.0|DOID:0110716																		owl:Class
MONDO:0012284	biolink:NamedThing	nephropathy, progressive, with deafness		mondoexuq1wtf	Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede											MESH:C563713|OMIM:609469|UMLS:C1836119																		owl:Class
MONDO:0022919	biolink:NamedThing	cytokine receptor deficiency	A disease that has its basis in the disruption of cytokine receptor activity.	mondoexuq1wtf	disorder of cytokine receptor activity|cytokine receptor activity disease					Editor note: todo, align						GARD:0009530														https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency				owl:Class
MONDO:0044980	biolink:NamedThing	disease of signal transduction		mondoexuq1wtf																														owl:Class
MONDO:0002903	biolink:NamedThing	articulation disorder	A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).	mondoexuq1wtf	articulation impairment|phonological disorder											MESH:D001184|SCTID:386701004|COHD:4039744|NCIT:C92564|DOID:4186|ICD9:315.39																		owl:Class
MONDO:0004730	biolink:NamedThing	speech disorder	A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.	mondoexuq1wtf	speech impediment or impairment											MESH:D013064|NCIT:C5041|DOID:92|UMLS:C0037822|ICD9:784.40|ICD9:784.49|SCTID:47004009																		owl:Class
MONDO:0003291	biolink:NamedThing	leiomyoma cutis	A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of the skin|leiomyoma cutis|zone of skin leiomyoma|cutaneous leiomyoma|leiomyoma of skin|leiomyoma of zone of skin|cutaneous (skin) leiomyoma|skin leiomyoma											DOID:5132|UMLS:C0346064|SCTID:254767008|NCIT:C4482																		owl:Class
MONDO:0044748	biolink:NamedThing	anaplasmosis in cattle	A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.	mondoexuq1wtf	Anaplasmoses											MESH:D000712																		owl:Class
MONDO:0005583	biolink:NamedThing	non-human animal disease	A disease that occurs in animals.	mondoexuq1wtf	diseases, animal|animal disease											MESH:D000820|UMLS:C0003047|EFO:0005932																		owl:Class
MONDO:0044879	biolink:NamedThing	pancreatic mucinous-cystic neoplasm	A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.	mondoexuq1wtf	mucinous cystic neoplasm|Pancreatic mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm											NCIT:C41247|ONCOTREE:MCN																		owl:Class
MONDO:0044880	biolink:NamedThing	cystic tumor of the pancreas		mondoexuq1wtf												ONCOTREE:PACT																		owl:Class
MONDO:0004166	biolink:NamedThing	hereditary fallopian tube carcinoma	Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.	mondoexuq1wtf	familial fallopian tube carcinoma|hereditary fallopian tube carcinoma|familiar fallopian tube carcinoma|hereditary fallopian tube cancer											UMLS:C1512418|NCIT:C40455|DOID:7266																		owl:Class
MONDO:0006206	biolink:NamedThing	fallopian tube carcinoma	A carcinoma that arises from epithelial cells of the fallopian tube.	mondoexuq1wtf	cancer of fallopian tube|carcinoma of fallopian tube|cancer of the fallopian tube|carcinoma of the fallopian tube|fallopian tube Ca|fallopian tube carcinoma|fallopian tube cancer											DOID:1963|UMLS:C0238122|EFO:1000251|SCTID:276870001|NCIT:C3867																		owl:Class
MONDO:0016816	biolink:NamedThing	Leigh syndrome with nephrotic syndrome		mondoexuq1wtf	infantile subacute necrotizing encephalopathy with nephrotic syndrome|Leigh disease with nephrotic syndrome											ICD10:G31.8|UMLS:CN202084|Orphanet:255249																		owl:Class
MONDO:0009723	biolink:NamedThing	Leigh syndrome	Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.	mondoexuq1wtf	LS|Leigh's necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh's disease|Leigh syndrome due to mitochondrial Complex 4 deficiency|Leigh syndrome due to mitochondrial Complex 3 deficiency|juvenile subacute necrotizing encephalomyelopathy|SNE|Leigh syndrome|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome due to mitochondrial Complex 5 deficiency|infantile necrotizing encephalomyelopathy|subacute necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency|Leigh disease|infantile subacute necrotizing encephalopathy|subacute necrotizing encephalopathy											ICD10:G31.8|UMLS:C0023264|OMIM:256000|MESH:D007888|NCIT:C84814|MedDRA:10062950|ICD10:G31.82|DOID:3652|Orphanet:506|GARD:0006877|ICD9:330.8|SCTID:29570005																		owl:Class
MONDO:0013333	biolink:NamedThing	odontoid hypoplasia	An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.	mondoexuq1wtf	odontoid hypoplasia											OMIM:613628|NCIT:C86969																		owl:Class
MONDO:0005497	biolink:NamedThing	bone development disease	A disease involving the bone development.	mondoexuq1wtf	bone development disease|disease or disorder of bone development|disorder of bone development|disease of bone development|bone development disease or disorder											DOID:0080006|SCTID:371521007|EFO:0005541																		owl:Class
MONDO:0004425	biolink:NamedThing	hyperthyroidism	Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.	mondoexuq1wtf	overactive thyroid											ICD10:E05.9|EFO:0009189|NCIT:C3123|MESH:D006980|ICD9:242.90|SCTID:34486009|DOID:7998																		owl:Class
MONDO:0003240	biolink:NamedThing	thyroid gland disease	A disease involving the thyroid gland.	mondoexuq1wtf	thyroid gland disease|disorder of thyroid gland|thyroid gland disease or disorder|thyroid gland diseases|disease of thyroid gland|disease or disorder of thyroid gland|thyroid gland disorders|thyroid gland disorder|thyroid disease											ICD10:E00-E07|COHD:141253|ICD10:E00.E07|SCTID:14304000|Wikipedia:Thyroid_disease|MESH:D013959|ICD9:246.9|EFO:1000627|ICD9:246.8|UMLS:C0040128|ICD10:E07.9|DOID:50|ICD9:240-246.99|NCIT:C26893																		owl:Class
MONDO:0007878	biolink:NamedThing	congenital laryngomalacia	Increased collapsibility of the larynx.	mondoexuq1wtf	congenital laryngeal stridor|laryngomalacia congenital|laryngomalacia											Orphanet:2373|NCIT:C98971|OMIM:150280|GARD:0006865|COHD:4113306|SCTID:253737007|ICD10:Q31.5|MESH:D055092|ICD9:748.3|MedDRA:10060786																		owl:Class
MONDO:0018562	biolink:NamedThing	genetic otorhinolaryngological malformation		mondoexuq1wtf												Orphanet:435603																		owl:Class
MONDO:0024418	biolink:NamedThing	muscular fibrosis multifocal obstructed vessels		mondoexuq1wtf						Editor note: not in ORDO as of Apr 29 2018						GARD:0003857|Orphanet:2033																		owl:Class
MONDO:0100014	biolink:NamedThing	autoimmune retinopathy	An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.	mondoexuq1wtf	retina autoimmune disease|autoimmune disease of retina|AIR				2018-05-23 00:32:51+00:00							GARD:0012034|SCTID:724809006|UMLS:C3203657																		owl:Class
MONDO:0000587	biolink:NamedThing	autoimmune disease of ear, nose and throat	An autoimmune form of otorhinolaryngologic disease.	mondoexuq1wtf	autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease					Editor note: ENT typically excludes eye, but the DOID class includes this						DOID:0060030																		owl:Class
MONDO:0100108	biolink:NamedThing	TPM3-related myopathy	TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.	mondoexuq1wtf	autosomal dominant TPM3-related myopathy|TPM3 myopathy|congenital myopathy related to TPM3					The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.		https://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0016377	biolink:NamedThing	Pitt-Hopkins-like syndrome	Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.	mondoexuq1wtf	PTHSL											Orphanet:221150|GARD:0011967|UMLS:CN239445														https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome				owl:Class
MONDO:0018204	biolink:NamedThing	20q11.2 microduplication syndrome	20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.	mondoexuq1wtf	dup(20)(q11.2)											ICD10:Q93.5|SCTID:763061004|UMLS:CN204718|Orphanet:363659																		owl:Class
MONDO:0016970	biolink:NamedThing	partial trisomy of the long arm of chromosome 20		mondoexuq1wtf	partial duplication of the long arm of chromosome 20|partial trisomy of the long arm of chromosome type 20|partial trisomy of chromosome 20q|partial duplication of chromosome 20q											Orphanet:262995																		owl:Class
MONDO:0008158	biolink:NamedThing	dacryocystitis-osteopoikilosis syndrome	Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).	mondoexuq1wtf	dacryocystitis osteopoikilosis|osteopoikilosis and dacryocystitis|Gunal-Seber-Basaran syndrome|Gunal Seber Basaran syndrome											Orphanet:1562|MESH:C536061|UMLS:C1833698|SCTID:721082002|OMIM:166705|GARD:0000351																		owl:Class
MONDO:0019703	biolink:NamedThing	primary bone dysplasia with increased bone density		mondoexuq1wtf	primary osteodysplasia with increased bone density|sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density											Orphanet:93444|UMLS:CN043667																		owl:Class
MONDO:0033546	biolink:NamedThing	neurodegeneration, infantile-onset, biotin-responsive		mondoexuq1wtf	Sodium-Dependent Multivitamin Transporter Deficiency|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|NERIB|Smvt Deficiency											OMIM:618973																		owl:Class
MONDO:0004289	biolink:NamedThing	glottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.	mondoexuq1wtf	glottic verrucous carcinoma|glottis verrucous carcinoma|verrucous carcinoma of the glottis|verrucous carcinoma of glottis											UMLS:C0280329|DOID:7583|NCIT:C8189																		owl:Class
MONDO:0004080	biolink:NamedThing	glottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.	mondoexuq1wtf	glottis epidermoid carcinoma|epidermoid carcinoma of the glottis|squamous cell carcinoma of glottis|squamous cell carcinoma of the glottis|glottic squamous cell carcinoma|glottic epidermoid carcinoma|glottis squamous cell carcinoma|epidermoid carcinoma of glottis											DOID:7031|UMLS:C0280325|NCIT:C8186																		owl:Class
MONDO:0011360	biolink:NamedThing	autosomal recessive nonsyndromic deafness 14	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 14|deafness, autosomal recessive 14|autosomal recessive deafness 14|DFNB14											MESH:C566344|UMLS:C1863613|ICD10:H90.3|OMIM:603678|DOID:0110469																		owl:Class
MONDO:0003371	biolink:NamedThing	breast leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	breast leiomyosarcoma|leiomyosarcoma of the breast|leiomyosarcoma of breast											NCIT:C5186|DOID:5285|UMLS:C1332631																		owl:Class
MONDO:0002490	biolink:NamedThing	breast sarcoma	A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.	mondoexuq1wtf	PBS|sarcoma of the breast|breast sarcoma|sarcoma of breast											DOID:3017|UMLS:C0349667|ONCOTREE:PBS|SCTID:278050001|NCIT:C4670																		owl:Class
MONDO:0002214	biolink:NamedThing	brain germinoma	A germinoma (disease) that involves the brain.	mondoexuq1wtf	germinoma of brain|brain germinoma (disease)|germinoma of the brain|intracranial germinoma											NCIT:C6284|DOID:2127|UMLS:C1332606																		owl:Class
MONDO:0001657	biolink:NamedThing	brain cancer	A primary or metastatic malignant neoplasm affecting the brain.	mondoexuq1wtf	brain neoplasms, malignant|malignant tumor of the brain|malignant brain tumour|malignant primary brain tumor|malignant brain neoplasm|primary malignant neoplasm of brain|BT - brain tumour|tumor of the brain|malignant tumor of brain|brain tumor, adult|cancer of the brain|malignant brain tumor|neoplasm of unspecified nature of brain|malignant neoplasm of the brain|malignant tumor of adult brain|cancer of brain|adult brain tumor|primary brain neoplasm|brain neoplasm, adult|brain cancer|adult malignant brain neoplasm|brain neoplasm|malignant neoplasm of brain|malignant primary brain neoplasm|primary brain tumor											ICD9:191|ICD9:191.8|GARD:0009307|NCIT:C3568|SCTID:428061005|ICD10:C71.9|MESH:D001932|CSP:2006-2736|DOID:1319|ICD9:191.9|ICD10:C71|ICD9:239.6																		owl:Class
MONDO:0003673	biolink:NamedThing	apical myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.	mondoexuq1wtf												DOID:5848																		owl:Class
MONDO:0005068	biolink:NamedThing	myocardial infarction	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.	mondoexuq1wtf	MI, myocardial infarction|myocardial infarction, (MI)|heart attack|infarction (MI), myocardial|myocardial infarction|myocardial infarct|MI|myocardial infarction (disease)		myocardial infarction (disease)									DOID:5844|HP:0001658|MESH:D009203|SCTID:22298006|NCIT:C27996|EFO:0000612|UMLS:C0027051|ICD10:I22|ICD10:I21																		owl:Class
MONDO:0019619	biolink:NamedThing	duplication of the esophagus		mondoexuq1wtf												ICD10:Q39.8|Orphanet:91357																		owl:Class
MONDO:0015207	biolink:NamedThing	non-syndromic esophageal malformation	A esophageal malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated esophageal malformation|nonsyndromic esophageal malformation											Orphanet:108959																		owl:Class
MONDO:0002335	biolink:NamedThing	chronic inflammatory demyelinating polyneuritis	An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.	mondoexuq1wtf	chronic inflammatory demyelinating polyneuropathy					Editor note: todo add polyneuritis						NCIT:C84636|ICD9:357.81|DOID:2536|ICD10:G61.81|SCTID:444728005																		owl:Class
MONDO:0003334	biolink:NamedThing	demyelinating polyneuropathy	Polyneuropathy that is characterized by demyelination of axons.	mondoexuq1wtf	peripheral demyelinating neuropathy											UMLS:C0270922|SCTID:23414001|NCIT:C27062|DOID:5214|ICD9:356.9																		owl:Class
MONDO:0005197	biolink:NamedThing	thymus neoplasm	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.	mondoexuq1wtf	neoplasm of the Thymus|neoplasm of thymus|neoplasm of Thymus|THYMUS|thymic neoplasm|thymus tumor|Thymus tumor|tumor of thymus|tumor of the Thymus|Thymus neoplasm|thymus neoplasm (disease)|thymic tumor|tumor of Thymus											NCIT:C3412|SCTID:127231009|EFO:0002626|ICD9:239.89|UMLS:C3714644|ONCOTREE:THYMUS|Orphanet:100100																		owl:Class
MONDO:0002334	biolink:NamedThing	hematopoietic and lymphoid system neoplasm	Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003	mondoexuq1wtf	hematologic neoplasm|tumor of hematopoietic system|blood neoplasm (disease)|hematopoietic and lymphoid system tumor|blood cancer|hematopoietic neoplasm (morphologic abnormality)|hematopoietic neoplasm|hematologic malignancy|hematopoietic system neoplasm|hematopoietic and lymphoid system neoplasm|neoplasm of blood|hematological tumors|hematopoietic cancer|neoplasm of hematopoietic system|tumor of blood|hematopoietic system tumor|hematopoietic tumors|blood tumor|malignant hematopoietic neoplasm (morphologic abnormality)|hematologic cancer											UMLS:C1512393|NCIT:C35813|DOID:2531|UMLS:C0376545|UMLS:C0376544|MESH:D019337|SCTID:129154003																		owl:Class
MONDO:0008995	biolink:NamedThing	Yunis-Varon syndrome	Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varon syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|Yunis-Varón syndrome|Yunis Varon syndrome|cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|YVS											OMIM:216340|MESH:C536719|UMLS:C1857663|DOID:0060589|Orphanet:3472|GARD:0000331|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome				owl:Class
MONDO:0009058	biolink:NamedThing	cystathioninuria	Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.	mondoexuq1wtf	Cystathione gamma-lyase deficiency syndrome|cystathioninuria (disease)|gamma-cystathionase deficiency|cystathionase deficiency|cystathione gamma-lyase deficiency syndrome|cystathioninuria		cystathioninuria (disease)									SCTID:13003007|GARD:0002428|UMLS:C3495552|UMLS:C0220993|UMLS:C0268616|ICD10:E72.1|GARD:2428|NCIT:C129070|HP:0003153|DOID:0090142|OMIM:219500|Orphanet:212																		owl:Class
MONDO:0019222	biolink:NamedThing	inborn disorder of methionine cycle and sulfur amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	mondoexuq1wtf	disorder of methionine cycle and sulfur amino acid metabolism|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process|cytosolic methyl group transfer or sulfur amino acid metabolism disorder|inborn sulfur amino acid metabolic process disorder					Editor note: check this						SCTID:28882002|Orphanet:79173|ICD10:E72.1|UMLS:CN227589|ICD9:270.4																		owl:Class
MONDO:0024312	biolink:NamedThing	cancer of short bone of upper limb		mondoexuq1wtf												ICD10:C40.1																		owl:Class
MONDO:0024311	biolink:NamedThing	cancer affecting bone of limb skeleton	A cancer that involves the limb bone.	mondoexuq1wtf	malignant neoplasm of limb bone|cancer of limb bone|limb bone cancer|malignant limb bone neoplasm											ICD10:C40																		owl:Class
MONDO:0010246	biolink:NamedThing	developmental and epileptic encephalopathy, 9	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	mondoexuq1wtf	PCDH19-related infantile epileptic encephalopathy|familial epilepsy and mental retardation limited to females|epilepsy, female-restricted, with intellectual disability|epilepsy and mental retardation limited to females|epileptic encephalopathy, early infantile, 9|familial epilepsy and intellectual disability limited to females|female restricted epilepsy with intellectual deficit|EIEE9|PCDH19-related female-limited epilepsy|epileptic encephalopathy, early infantile, type 9|epilepsy, female restricted, with mental retardation|PCDH19 early infantile epileptic encephalopathy|Juberg Hellman syndrome|Juberg-Hellman syndrome|epilepsy, female-restricted, with mental retardation|EFMR|epilepsy, female restricted, with intellectual disability|epilepsy and intellectual disability limited to females|PCDH19-related FLE|early infantile female-limited epilecptic encephalopathy|DEE9|early infantile epileptic encephalopathy 9|female restricted epilepsy with mental retardation|early infantile epileptic encephalopathy caused by mutation in PCDH19|early infantile epileptic encephalopathy type 9|female restricted epilepsy with intellectual disability											DOID:0060848|UMLS:C1848137|MESH:C564715|OMIM:300088|Orphanet:101039|GARD:0010806																		owl:Class
MONDO:0001007	biolink:NamedThing	chronic meningitis	Chronic form of meningitis (disease).	mondoexuq1wtf	meningitis (disease), chronic|chronic meningitis (disease)											UMLS:C0154653|COHD:439797|ICD10:G03.1|SCTID:21664006|DOID:10341|ICD9:322.2																		owl:Class
MONDO:0021108	biolink:NamedThing	meningitis	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.	mondoexuq1wtf	inflammation of meninx|meningitis|meningitis (disease)|meninx inflammation		meningitis (disease)									COHD:435785|NCIT:C26828|SCTID:7180009|ICD9:322.9																		owl:Class
MONDO:0003789	biolink:NamedThing	hereditary papillary renal cell carcinoma	A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.	mondoexuq1wtf	hereditary papillary carcinoma of kidney|Hereditary Papillary renal cell cancer|hereditary kidney papillary carcinoma|familial renal papillary carcinoma|hereditary papillary renal carcinoma|hereditary papillary renal cell carcinoma|hereditary papillary carcinoma of the kidney											SCTID:715561008|UMLS:C0879257|DOID:6163|NCIT:C9222																		owl:Class
MONDO:0003008	biolink:NamedThing	hereditary renal cell carcinoma	An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary renal cell carcinoma (disease)|hereditary renal cell cancer|familial renal carcinoma|hereditary renal carcinoma|hereditary renal cell carcinoma											MESH:C536851|SCTID:717736007|NCIT:C39789|GARD:0009571|DOID:4455														https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma				owl:Class
MONDO:0022113	biolink:NamedThing	central centrifugal cicatricial alopecia		mondoexuq1wtf	central centrifugal alopecia|central centrifugal cicatricial alopecia|hot comb alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA|CCCA											UMLS:C1274708|GARD:0010826|SCTID:109441000119102|ICD9:704.09|OMIM:618352														https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia				owl:Class
MONDO:0021034	biolink:NamedThing	genetic alopecia	An instance of alopecia that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic alopecia											Orphanet:481771																		owl:Class
MONDO:0017582	biolink:NamedThing	pituitary adenocarcinoma	A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.	mondoexuq1wtf	cancer of pituitary|cancer of the pituitary gland|cancer of pituitary gland|pituitary gland adenocarcinoma|carcinoma of the pituitary gland|pituitary adenocarcinoma (disease)|pituitary gland carcinoma|pituitary gland cancer|carcinoma of pituitary|cancer of the pituitary|carcinoma of the pituitary|PTCA|carcinoma of pituitary gland|pituitary carcinoma		pituitary adenocarcinoma (disease)									ICDO:8272/3|SCTID:254955001|DOID:4916|HP:0011763|NCIT:C4536|Orphanet:300385|ICD10:C75.1|ONCOTREE:PTCA|UMLS:C0346300																		owl:Class
MONDO:0002109	biolink:NamedThing	pituitary cancer	A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.	mondoexuq1wtf	malignant tumor of pituitary|cancer of pituitary gland|malignant tumor of the pituitary|malignant tumor of the pituitary gland|malignant tumor of pituitary gland|malignant neoplasm of pituitary gland|pituitary neoplasm|pituitary tumor, malignant|malignant neoplasm of the pituitary|malignant neoplasm of the pituitary gland|malignant pituitary gland neoplasm|malignant pituitary gland tumor|pituitary cancer|pituitary gland cancer|malignant pituitary tumor|malignant pituitary neoplasm|pituitary gland neoplasm|pituitary neoplasms, malignant|malignant neoplasm of pituitary											EFO:0005578|NCIT:C4769|DOID:1785|UMLS:C0496842|SCTID:363482009|ICD10:C75.1|GARD:0009371																		owl:Class
MONDO:0018827	biolink:NamedThing	familial chilblain lupus	An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary chilblain lupus|hereditary Chilblain lupus											Orphanet:481662|OMIMPS:610448|UMLS:CN776917																		owl:Class
MONDO:0043455	biolink:NamedThing	humoral hypercalcemia of malignancy	Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.	mondoexuq1wtf	malignant hypercalcemia|mahc|humoral hypercalcemia of malignancy|hhm|hypercalcemia of malignancy|malignancy associated hypercalcemia											SCTID:47709007|NCIT:C3496|UMLS:C0149911|MESH:C562390																		owl:Class
MONDO:0021073	biolink:NamedThing	paraneoplastic syndrome	A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.	mondoexuq1wtf	paraneoplastic syndrome											SCTID:49783001|UMLS:C0030472|NCIT:C3311|MESH:D010257																		owl:Class
MONDO:0010655	biolink:NamedThing	X-linked intellectual disability with marfanoid habitus	The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.	mondoexuq1wtf	LUJAN-Fryns syndrome|Lujan syndrome|Lujan-Fryns syndrome|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|mental retardation, X-linked, with Marfanoid habitus|intellectual disability, X-linked, with Marfanoid habitus											Orphanet:776|MESH:C537724|SCTID:422437002|GARD:0003307|OMIM:309520|ICD10:Q87.8																		owl:Class
MONDO:0100000	biolink:NamedThing	MED12-related intellectual disability syndrome	An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.	mondoexuq1wtf	MED12 X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in MED12				2018-03-09 01:45:27+00:00																									owl:Class
MONDO:0009774	biolink:NamedThing	cloacal exstrophy	Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.	mondoexuq1wtf	omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|OEIS syndrome|OEIS complex|cloacal exstrophy sequence|cloacal exstrophy|cloacal exstrophy (disease)|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|omphalocele-exstrophy-imperforate anus-spinal defects		cloacal exstrophy (disease)									UMLS:C1850321|SCTID:20815007|MESH:C537748|ICD10:Q64.1|DOID:0080175|ICD9:759.89|OMIM:258040|Orphanet:93929|HP:0010475|GARD:0004080|NCIT:C99142|MedDRA:10067424																		owl:Class
MONDO:0015216	biolink:NamedThing	syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with diaphragmatic or abdominal wall malformation|syndromic diaphragmatic or abdominal wall malformation											Orphanet:108979|UMLS:CN226633																		owl:Class
MONDO:0016072	biolink:NamedThing	anomaly of puberty or/and menstrual cycle of genetic origin	An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic anomaly of puberty or/and menstrual cycle											Orphanet:202940																		owl:Class
MONDO:0019913	biolink:NamedThing	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).	mondoexuq1wtf	UPD(7)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7											ICD10:Q87.1|Orphanet:96182|UMLS:CN206841																		owl:Class
MONDO:0020056	biolink:NamedThing	uniparental disomy of maternal origin		mondoexuq1wtf												Orphanet:98153|SCTID:726401004|ICD10:Q99.8																		owl:Class
MONDO:0022174	biolink:NamedThing	chromosome 12p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.	mondoexuq1wtf	monosomy 12p|deletion 12p|12p-|partial monosomy 12p|del(12p)|loss of chromosome 12p|12p monosomy|12p deletion|12p del											UMLS:C0795844|NCIT:C36410|GARD:0006068|MESH:C538301														https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion				owl:Class
MONDO:0019040	biolink:NamedThing	chromosomal anomaly	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	mondoexuq1wtf	disorders, chromosomal|chromosomal disorder|autosomal chromosome disorder|chromosome disorder, autosomal|disorder, chromosome|chromosomal anomaly|chromosome disorder|chromosomal disorders|disorders, chromosome|autosomal chromosome disorders|disorder, chromosomal|chromosomal disease|chromosome disorders, autosomal|chromosome Abnormality disorders|disorder, chromosome Abnormality|chromosome Abnormality disorder											NCIT:C34470|Orphanet:68335|SCTID:409709004|ICD9:758.89|DOID:0080014|MESH:D025063																		owl:Class
MONDO:0014806	biolink:NamedThing	spinal muscular atrophy with congenital bone fractures 1	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.	mondoexuq1wtf	spinal muscular atrophy with congenital bone fractures 1|spinal muscular atrophy with congenital bone fractures type 1|SMABF1|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy type 1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|SMA1 with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4											UMLS:C1849101|OMIM:616866|OMIM:271225|MESH:C564805|UMLS:C4225177|GARD:0004947																		owl:Class
MONDO:0000209	biolink:NamedThing	prenatal-onset spinal muscular atrophy with congenital bone fractures		mondoexuq1wtf	spinal muscular atrophy with congenital bone fractures|SMABF											DC:0000720|UMLS:CN238807|OMIMPS:616866|Orphanet:486811																		owl:Class
MONDO:0014701	biolink:NamedThing	spondyloepiphyseal dysplasia, Stanescu type		mondoexuq1wtf	spondyloepiphyseal dysplasia, Stanescu type|SED, Stanescu type|SEDSTN											Orphanet:459051|OMIM:616583|ICD10:Q77.7|UMLS:C4225273																		owl:Class
MONDO:0022800	biolink:NamedThing	collagenopathy type 2 alpha 1	Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.	mondoexuq1wtf	collagen II|disease or disorder caused by mutation in COL2A1|COL2A1|cartilage collagen|COL2A1 disease or disorder					Editor note: TODO merge with ordo class or obsolete						UMLS:C2931073|MESH:C535964|GARD:0009246|HGNC:2200														https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1				owl:Class
MONDO:0021081	biolink:NamedThing	anti-NMDA receptor encephalitis	An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.	mondoexuq1wtf	anti-NMDA receptor encephalitis											MESH:D060426|NCIT:C94853																		owl:Class
MONDO:0019385	biolink:NamedThing	steroid-responsive encephalopathy associated with autoimmune thyroiditis		mondoexuq1wtf	SREAT|Hashimoto's encephalopathy|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalitis|Hashimoto encephalitis					Editor note: TODO DP for chebi roles						ICD10:G04.8|Orphanet:83601|MESH:C535841|GARD:0008570|UMLS:C0393639																		owl:Class
MONDO:0023563	biolink:NamedThing	Kotzot-Richter syndrome		mondoexuq1wtf	albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies											GARD:0003134|UMLS:C2931399|MESH:C537025														https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome				owl:Class
MONDO:0019312	biolink:NamedThing	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.	mondoexuq1wtf	HPS (Hermansky Pudlak syndrome)|HPS|Hermansky Pudlak syndrome											MedDRA:10071775|NCIT:C37261|DOID:3753|Orphanet:79430|MESH:D022861|OMIMPS:203300|GARD:0006643|ICD10:E70.331|SCTID:9311003|ICD9:270.2|ICD10:E70.3																		owl:Class
MONDO:0006895	biolink:NamedThing	penile neoplasm	A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	mondoexuq1wtf	tumor of the penis|penis tumor|penis neoplasm|neoplasm of the penis|penis neoplasm (disease)|penile neoplasm|neoplasm of penis|tumor of penis|penile tumor|penile neoplasms											MedDRA:10061913|UMLS:C0030849|NCIT:C3317|ONCOTREE:PENIS|ICD9:239.5|MESH:D010412|EFO:1001094|SCTID:126896003|DOID:11624																		owl:Class
MONDO:0024582	biolink:NamedThing	male reproductive system neoplasm	A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.	mondoexuq1wtf	tumor of Male reproductive system|Male reproductive system tumor|neoplasm of Male reproductive system|Male reproductive system neoplasm|neoplasm of the Male reproductive system|male reproductive organ neoplasm|tumor of the Male reproductive system|male reproductive organ tumor|neoplasm of male reproductive organ|tumor of male reproductive organ											ICD9:239.5|SCTID:126895004|NCIT:C3054																		owl:Class
MONDO:0004026	biolink:NamedThing	skin tag	A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.	mondoexuq1wtf	fibroepithelial polyp of skin|fibroma molle|soft fibroma|fibroepithelial polyp of the skin|fibroepithelial polyp|cutaneous tag|cutaneous fibroepithelial polyp|acrochordon											SCTID:201091002|DOID:6873|UMLS:C0037293|NCIT:C3374																		owl:Class
MONDO:0006603	biolink:NamedThing	reactive cutaneous fibrous lesion	A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.	mondoexuq1wtf												UMLS:C1335666|EFO:1000759|DOID:2053|NCIT:C27549																		owl:Class
MONDO:0009417	biolink:NamedThing	hypergonadotropic hypogonadism-cataract syndrome	This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.	mondoexuq1wtf	hypogonadism cataract syndrome|Lubinsky syndrome|hypogonadism-cataract syndrome|cataracts and testicular failure											GARD:0000298|SCTID:721233005|OMIM:240950|MESH:C543092|Orphanet:2410|UMLS:C1855859|ICD10:E29.1																		owl:Class
MONDO:0010607	biolink:NamedThing	heterotaxy, visceral, 1, X-linked	X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.	mondoexuq1wtf	congenital heart defects, multiple types, 1, X-linked|heterotaxy, visceral, 1, X-linked|laterality, X-linked|dextrocardia with Other Cardiac malformations|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|heterotaxy, visceral, X-linked|HTX1|X-linked visceral heterotaxy 1|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3											EFO:0009136|OMIM:306955|UMLS:C1844020|MESH:C538116|GARD:0008591														https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1				owl:Class
MONDO:0018677	biolink:NamedThing	visceral heterotaxy	A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.	mondoexuq1wtf	heterotaxia syndrome|situs ambiguus|lateralization defect|heterotaxy, visceral|heterotaxia|heterotaxy syndrome|visceral heterotaxy											NCIT:C117273|OMIMPS:306955|UMLS:C3178805|DOID:0050545|Orphanet:450|MedDRA:10067265|EFO:0009081|ICD10:Q89.3																		owl:Class
MONDO:0018096	biolink:NamedThing	Weill-Marchesani syndrome	Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.	mondoexuq1wtf	WMS|WM syndrome|spherophakia-brachymorphia syndrome|Marchesani-Weill syndrome|mesodermal dysmorphodystrophy congenital|congenital mesodermal dystrophy|spherophakia brachymorphia syndrome|mesodermal Dysmorphodystrophy, congenital											ICD10:Q87.0|Orphanet:3449|MedDRA:10064963|GARD:0004936|MESH:D056846|ICD9:759.89|DOID:0050475|NCIT:C85226|OMIMPS:277600|SCTID:2884008|UMLS:C0265313																		owl:Class
MONDO:0019695	biolink:NamedThing	acromelic dysplasia		mondoexuq1wtf												Orphanet:93436|ICD10:Q74.8																		owl:Class
MONDO:0024296	biolink:NamedThing	vascular neoplasm	A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.	mondoexuq1wtf	tumor of vascular system|tumor of vascular tissue|vascular tumor|neoplasm of vascular system|vascular tumors|vascular neoplasms|neoplasms, vascular|vascular neoplasm|vascular tissue neoplasm|vascular system tumor|neoplasm of vascular tissue|tumors, vascular|vascular system neoplasm|vascular tissue tumor|vascular system neoplasm (disease)											NCIT:C7388																		owl:Class
MONDO:0024757	biolink:NamedThing	cardiovascular neoplasm	A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.	mondoexuq1wtf	cardiovascular neoplasm|neoplasm of cardiovascular system|tumor of cardiovascular system|cardiovascular tumor|cardiovascular system tumor|cardiovascular system neoplasm											SCTID:721573003|NCIT:C4784																		owl:Class
MONDO:0001300	biolink:NamedThing	autonomic neuropathy	An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.	mondoexuq1wtf	peripheral neuropathy of autonomic nervous system|autonomic peripheral neuropathy|autonomic nervous system peripheral neuropathy											UMLS:C0259749|SCTID:277879009|DOID:0060054|CSP:2049-9000|NCIT:C27033|DOID:11504|CSP:2042-2001																		owl:Class
MONDO:0005244	biolink:NamedThing	peripheral neuropathy	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.	mondoexuq1wtf	neuropathy|peripheral nerve disorder|peripheral neuropathy					Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20						UMLS:C0442874|NCIT:C119734|DOID:870|ICD10:G62.9|SCTID:386033004|EFO:0003100|MedDRA:10034606|EFO:0004149|NCIT:C4731																		owl:Class
MONDO:0005655	biolink:NamedThing	ascaridiasis	Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.	mondoexuq1wtf	Ascaridia infectious disease|ascaridiosis|Ascaridia caused disease or disorder|Ascaridia disease or disorder|infection caused by Ascaridia|infection by Ascaridia											ICD10:B77|DOID:3108|MESH:D001198|UMLS:C0003952|EFO:0007155|SCTID:76160002																		owl:Class
MONDO:0005656	biolink:NamedThing	Ascaridida infectious disease	Infections with nematodes of the order ascaridida.	mondoexuq1wtf	Ascaridida infection|infection, Ascaridida|Ascaridida caused disease or disorder|infections, Ascaridida|Ascaridida disease or disorder											MESH:D017191|EFO:0007156																		owl:Class
MONDO:0002837	biolink:NamedThing	sarcomatoid transitional cell carcinoma	A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.	mondoexuq1wtf	transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma|sarcomatoid transitional cell carcinoma											UMLS:C0334271|DOID:4014|ICDO:8122/3|NCIT:C4120																		owl:Class
MONDO:0006406	biolink:NamedThing	sarcomatoid carcinoma	A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.	mondoexuq1wtf	carcinoma, spindle cell, malignant|sarcomatoid carcinoma|spindle cell carcinoma (morphologic abnormality)|pseudosarcomatous carcinoma|spindle cell carcinoma											DOID:4015|ICDO:8033/3|UMLS:C0205697|ICDO:8032/3|NCIT:C27004|EFO:1000520																		owl:Class
MONDO:0010043	biolink:NamedThing	hereditary spastic paraplegia 17	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.	mondoexuq1wtf	spastic paraplegia-amyotrophy of hands and feet|hereditary spastic paraplegia type 17|hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia with amyotrophy of hands and feet|distal hereditary motor neuropathy type 5B|SPG17|spastic paraplegia 17, autosomal dominant|dHMN5B|Silver syndrome|BSCL2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 17|autosomal dominant spastic paraplegia 17|Silver spastic paraplegia syndrome|spastic paraplegia 17											MESH:C536644|OMIM:270685|DOID:0110770|UMLS:C2931276|Orphanet:100998|GARD:0004219|ICD10:G11.4|UMLS:CN074197																		owl:Class
MONDO:0015362	biolink:NamedThing	autosomal dominant distal hereditary motor neuropathy	Autosomal dominant form of distal hereditary motor neuropathy.	mondoexuq1wtf	autosomal dominant distal hereditary motor neuropathy|autosomal dominant distal spinal muscular atrophy|autosomal dominant dHMN|distal hereditary motor neuropathy, autosomal dominant											Orphanet:140465|UMLS:CN228930|DOID:0111198|ICD10:G12.1																		owl:Class
MONDO:0005899	biolink:NamedThing	parotid disease	A disease involving the parotid gland.	mondoexuq1wtf	parotid gland disease|disease of parotid gland|parotid gland disease or disorder|disease or disorder of parotid gland|disorder of parotid gland											EFO:0007422|UMLS:C0030579|MESH:D010305|DOID:10302																		owl:Class
MONDO:0044987	biolink:NamedThing	face disease	A disease or disorder that involves the face.	mondoexuq1wtf	face disease|disease of face|disorder of face|disease or disorder of face|face disease or disorder											SCTID:118930001|UMLS:C1290857																		owl:Class
MONDO:0001258	biolink:NamedThing	vertebral artery occlusion		mondoexuq1wtf	occlusion and stenosis of vertebral artery|vertebral artery occlusion|vertebrobasial artery occlusion											ICD9:433.20|DOID:11299|SCTID:195182007|ICD9:433.2|ICD10:I65.0|ICD9:433.21																		owl:Class
MONDO:0020673	biolink:NamedThing	arterial occlusion	Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.	mondoexuq1wtf	arterial occlusion|arterial obstruction											NCIT:C35318																		owl:Class
MONDO:0010828	biolink:NamedThing	retinitis pigmentosa 11	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.	mondoexuq1wtf	retinitis pigmentosa 11|RP11|retinitis pigmentosa caused by mutation in PRPF31|retinitis pigmentosa type 11|PRPF31 retinitis pigmentosa|RP 11											DOID:0110408|MESH:C563991|GARD:0010383|ICD10:H35.5|OMIM:600138|UMLS:C1838601														https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11				owl:Class
MONDO:0019200	biolink:NamedThing	retinitis pigmentosa	Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.	mondoexuq1wtf	Rod-cone dystrophy|pericentral pigmentary retinopathy											OMIMPS:268000|ICD10:H35.5|UMLS:C0035334|DOID:10584|Orphanet:791|MESH:D012174|NCIT:C85045|SCTID:28835009|MedDRA:10038914|GARD:0005694|ICD10:H35.52|UMLS:C4072872|OMIM:268000																		owl:Class
MONDO:0019475	biolink:NamedThing	subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.	mondoexuq1wtf	subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitis-like T-cell lymphoma											NCIT:C6918|MESH:C537503|EFO:1000552|ICD9:202.70|Orphanet:86884|ICD10:C83.6|ONCOTREE:SPTCL|ICD10:C86.3|GARD:0010193|OMIM:618398|SCTID:404133000|UMLS:C0522624|ICDO:9708/3																		owl:Class
MONDO:0004805	biolink:NamedThing	leukocyte disease	A disease involving leukocytes.	mondoexuq1wtf	disorders, leukocyte|white blood cell disorder|disease of leukocyte|leukocyte disease or disorder|leukocyte disease|disease or disorder of leukocyte|disorder of leukocyte|disorder, leukocyte|leukocyte disorder											ICD9:288.9|UMLS:C0023510|ICD9:288|DOID:9500|SCTID:54097007|ICD10:D72.9|MESH:D007960																		owl:Class
MONDO:0024171	biolink:NamedThing	radio-digito-facial dysplasia		mondoexuq1wtf	Van Goethem syndrome											GARD:0004629																		owl:Class
MONDO:0011493	biolink:NamedThing	Stickler syndrome type 2	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).	mondoexuq1wtf	COL11A1 Stickler syndrome|Stickler syndrome, type 2|STL2|Stickler syndrome, vitreous type 2|STL 2|Stickler syndrome type II|Stickler syndrome caused by mutation in COL11A1|STICKLER syndrome, type II|Stickler syndrome, beaded vitreous type											GARD:0005020|Orphanet:90654|OMIM:604841|MESH:C537493|ICD10:Q87.5|NCIT:C74985|UMLS:C1858084														https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2				owl:Class
MONDO:0019687	biolink:NamedThing	type 11 collagen-related bone disorder		mondoexuq1wtf												UMLS:CN227673|Orphanet:93422														https://github.com/monarch-initiative/mondo/issues/3575				owl:Class
MONDO:0005047	biolink:NamedThing	infertility disorder	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.	mondoexuq1wtf	infertility|Sterile|sterility|infertile|fertility disorders|sterile					Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting						NCIT:C3836|MESH:D007246|DOID:5223|EFO:0000545																		owl:Class
MONDO:0005039	biolink:NamedThing	reproductive system disease	A disease involving the reproductive system.	mondoexuq1wtf	reproductive system disease or disorder|disorder of reproductive system|disease of reproductive system|genital disorders|reproductive disease|reproductive system disease|disease or disorder of reproductive system|reproductive system disorder|genital system disease											DOID:15|UMLS:C0178829|SCTID:362968007|NCIT:C4875|Wikipedia:Reproductive_system_disease|EFO:0000512																		owl:Class
MONDO:0003544	biolink:NamedThing	spinal cord cancer	A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.	mondoexuq1wtf	cancer of spinal cord|spinal cord neoplasm|malignant spinal cord tumor|malignant tumor of the spinal cord|tumor of the spinal cord|spine cancer|malignant neoplasm of spinal cord|spinal cancer|spinal neoplasm|spinal cord cancer|malignant tumor of spinal cord|malignant spinal cord neoplasm|malignant neoplasm of the spinal cord|intraspinal tumor											ICD9:192.2|ICD10:C72.0|UMLS:C0153646|DOID:5612|COHD:4177234|SCTID:363475005|NCIT:C3572																		owl:Class
MONDO:0021234	biolink:NamedThing	spinal cord neoplasm	A neoplasm (disease) that involves the spinal cord.	mondoexuq1wtf	tumor of the spinal cord|tumor of spinal cord|neoplasm of the spinal cord|neoplasm of spinal cord|spinal cord tumor|spinal cord neoplasm (disease)											NCIT:C3381|UMLS:C0037930																		owl:Class
MONDO:0004746	biolink:NamedThing	myopathy of extraocular muscle	A myopathy that involves the extra-ocular muscle.	mondoexuq1wtf	myopathy of extra-ocular muscle|myopathy of extraocular muscles|extra-ocular muscle myopathy											SCTID:57130002|ICD10:H05.82|ICD9:376.82|UMLS:C0155286|DOID:929																		owl:Class
MONDO:0020120	biolink:NamedThing	skeletal muscle disease	A disease involving the skeletal muscle tissue.	mondoexuq1wtf	skeletal muscle tissue disease|skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|disease or disorder of skeletal muscle tissue											MedDRA:10028641|Orphanet:98472|UMLS:C1533847|SCTID:75047002																		owl:Class
MONDO:0013735	biolink:NamedThing	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	mondoexuq1wtf	MCHCCD|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|Zaki-Gleeson syndrome											OMIM:614407|Orphanet:329332|UMLS:C3280692																		owl:Class
MONDO:0004271	biolink:NamedThing	pregnancy adenoma	A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.	mondoexuq1wtf	Lactating adenoma|Lactating adenoma (morphologic abnormality)											UMLS:C1266023|NCIT:C9473|ICDO:8204/0|DOID:7539																		owl:Class
MONDO:0010397	biolink:NamedThing	severe neonatal-onset encephalopathy with microcephaly	An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.	mondoexuq1wtf	severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|severe neonatal encephalopathy due to MECP2 mutations											Orphanet:209370|MESH:C566878|UMLS:C1968556|ICD10:Q02|OMIM:300673|NCIT:C132293																		owl:Class
MONDO:0020070	biolink:NamedThing	neonatal epilepsy syndrome		mondoexuq1wtf						This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						Orphanet:98257|UMLS:CN206974|ICD10:G40.4														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0006469	biolink:NamedThing	tibial adamantinoma	An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).	mondoexuq1wtf	tibia adamantinoma|tibial adamantinoma morphology|tibial adamantinoma|adamantinoma of tibia|tibia long bone adamantinoma											NCIT:C8461|EFO:1000596|SCTID:281702006|UMLS:C1273017|DOID:6322																		owl:Class
MONDO:0000952	biolink:NamedThing	cancer of long bone of lower limb	A cancer that involves the hindlimb long bone.	mondoexuq1wtf	malignant hindlimb long bone neoplasm|malignant neoplasm of long bones of leg|malignant neoplasm of hindlimb long bone|hindlimb long bone cancer|long bones of lower limb cancer|cancer of hindlimb long bone											SCTID:449627008|UMLS:C3265932|ICD9:170.7|DOID:10149|ICD10:C40.2																		owl:Class
MONDO:0022790	biolink:NamedThing	cleft tongue		mondoexuq1wtf	cleft tongue syndrome|bifid tongue											GARD:0001395														https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue				owl:Class
MONDO:0009602	biolink:NamedThing	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia		mondoexuq1wtf	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia|Roy Maroteaux Kremp syndrome											UMLS:C1855164|MESH:C535875|GARD:0000217|OMIM:250500																		owl:Class
MONDO:0043543	biolink:NamedThing	iatrogenic disease	Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.	mondoexuq1wtf	conditions, hospital-acquired|iatrogenic disorder|diseases, iatrogenic|disease, iatrogenic|hospital-acquired condition|hospital-acquired conditions|iatrogenic diseases|condition, hospital-acquired|hospital acquired condition											MESH:D007049|UMLS:C0020732|SCTID:12456005|ICD9:799.9																		owl:Class
MONDO:0000001	biolink:NamedThing	disease or disorder	A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.	mondoexuq1wtf	disease or disorder, non-neoplastic|disorder|disease|other disease|condition|disorders|diseases and disorders|diseases|disease or disorder|medical condition											ICD9:799.9|OGMS:0000031|UMLS:C0012634|Orphanet:377788|SCTID:64572001|NCIT:C2991|DOID:4|MESH:D004194|EFO:0000408																		owl:Class
MONDO:0003105	biolink:NamedThing	prostate disease	A disease involving the prostate gland.	mondoexuq1wtf	prostate gland disease or disorder|prostate gland disease|disorder of prostate gland|disease or disorder of prostate gland|prostate disease|prostate disorder|disease of prostate gland											NCIT:C26865|ICD10:N42.9|ICD9:602.9|MESH:D011469|ICD9:602.8|COHD:196734|UMLS:C0033575|SCTID:30281009|DOID:47																		owl:Class
MONDO:0003150	biolink:NamedThing	male reproductive system disease	A disease involving the male reproductive system.	mondoexuq1wtf	disorder of male reproductive system|male reproductive system disease or disorder|Male reproductive system disorder|disease of male reproductive system|disorder of Male reproductive system|male reproductive system disease|Male reproductive system disease|male reproductive disease|disease or disorder of male reproductive system											ICD9:600-608.99|ICD10:N50.9|ICD10:N40.N51|SCTID:363194005|DOID:48|ICD9:608.9|NCIT:C27019|MESH:D005832																		owl:Class
MONDO:0000213	biolink:NamedThing	autoimmune disease, multisystem, infantile-onset		mondoexuq1wtf												DC:0000725|UMLS:CN238808|OMIMPS:615952																		owl:Class
MONDO:0007179	biolink:NamedThing	autoimmune disease	A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).	mondoexuq1wtf	hypersensitivity reaction type II disease|autoimmune disorder|autoimmune hypersensitivity disease|autoimmune disease|autoimmune disease or disorder|disease, autoimmune					Editor note: check OMIM						ICD9:279.4|EFO:0005140|NCIT:C2889|ICD9:279.49|DOID:417|OMIM:109100|COHD:434621|MESH:D001327|SCTID:85828009|UMLS:C0004364|ICD9:720|OBI:1110054																		owl:Class
MONDO:0014731	biolink:NamedThing	seizures-scoliosis-macrocephaly syndrome	Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	mondoexuq1wtf	SSM syndrome|SSMS|seizures, scoliosis, and macrocephaly syndrome											OMIM:616682|UMLS:C4225248|GARD:0009960|Orphanet:466926																		owl:Class
MONDO:0012095	biolink:NamedThing	intellectual disability-brachydactyly-Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	mondoexuq1wtf	ROBIN sequence with distinctive facial appearance and brachydactyly											UMLS:C1837564|ICD10:Q87.0|OMIM:608670|MESH:C563880|Orphanet:364577																		owl:Class
MONDO:0019066	biolink:NamedThing	syndrome with brachydactyly	Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.	mondoexuq1wtf	dysostosis with brachydactyly											Orphanet:69028|ICD10:Q73.8|UMLS:CN205546																		owl:Class
MONDO:0019371	biolink:NamedThing	narcolepsy without cataplexy	Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.	mondoexuq1wtf												ICD10:G47.419|UMLS:C1456240|ICD10:G47.4|EFO:0005855|UMLS:CN206062|ICD9:347.00|Orphanet:83465|SCTID:91521000119104																		owl:Class
MONDO:0021107	biolink:NamedThing	narcolepsy	A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.	mondoexuq1wtf	paroxysmal sleep|narcolepsy|narcolepsy, without cataplexy											ICD9:347.00|OMIMPS:161400|MESH:D009290|NCIT:C84489|UMLS:C0027404|DOID:8986|SCTID:60380001																		owl:Class
MONDO:0011098	biolink:NamedThing	prostate cancer, hereditary, 1	Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.	mondoexuq1wtf	familial prostate cancer caused by mutation in RNASEL|HPC1|Prca1|prostate cancer, hereditary, 1|prostate cancer, hereditary, type 1|RNASEL familial prostate cancer											OMIM:601518																		owl:Class
MONDO:0011883	biolink:NamedThing	Curly hair - acral keratoderma - caries syndrome	Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	mondoexuq1wtf	Chacs|CHACS|Chac syndrome|Curly hair - acral keratoderma - caries syndrome											MESH:C536220|ICD10:Q82.8|OMIM:607656|GARD:0010163|Orphanet:307766														https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome				owl:Class
MONDO:0015336	biolink:NamedThing	malformation syndrome with odontal and/or periodontal component		mondoexuq1wtf												Orphanet:139042|UMLS:CN199366																		owl:Class
MONDO:0054591	biolink:NamedThing	Stankiewicz-Isidor syndrome	A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.	mondoexuq1wtf	STISS|Stankiewicz-Isidor syndrome											OMIM:617516|UMLS:C4479599																		owl:Class
MONDO:0005071	biolink:NamedThing	nervous system disorder	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.	mondoexuq1wtf	neurologic disease|disorder of nervous system|disease of nervous system|nervous system disorder|neurological disease|neurological disorder|neurologic disorder|nervous system disease|disease or disorder of nervous system|nervous system disease or disorder											ICD9:349.89|DOID:863|SCTID:118940003|ICD10:G00-G99|EFO:0000618|MESH:D009422|ICD10:G00.G99|NCIT:C26835|UMLS:C0027765|ICD10:G98.8|ICD10:G98|Wikipedia:Nervous_system_disease|ICD9:349.9																		owl:Class
MONDO:0041903	biolink:NamedThing	gonococcal infection of joint		mondoexuq1wtf	gonococcal joint infection|gonococcal arthritis|gonococcal infection of joint|gonococcal rheumatism											SCTID:44743006|UMLS:C0153216																		owl:Class
MONDO:0004471	biolink:NamedThing	bacterial arthritis	The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	mondoexuq1wtf	pyogenic arthritis|infectious arthritis|septic arthritis											ICD9:711.97|DOID:813|EFO:1001351|ICD9:711.92|ICD9:711.93|ICD9:711.0|MESH:D001170|SCTID:48245008|ICD9:711.40|ICD9:711.94|NCIT:C26699|ICD10:M00|ICD9:711.91|ICD9:711.95|ICD9:711.9|ICD10:M00.9|ICD9:711.96|ICD9:711.90																		owl:Class
MONDO:0017805	biolink:NamedThing	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome		mondoexuq1wtf												Orphanet:314575|UMLS:CN203768																		owl:Class
MONDO:0008713	biolink:NamedThing	acrodermatitis enteropathica	Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.	mondoexuq1wtf	inherited zinc deficiency|Brandt syndrome|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|enteropathica|acrodermatitis enteropathica, zinc-deficiency type|ae|AEZ|acrodermatitis enteropathica, zinc deficiency type										MONDO:0023070	DOID:0050605|UMLS:C0221036|GARD:0006343|OMIM:201100|SCTID:37702000|ICD10:E83.2|MESH:C538178|Orphanet:37|ICD9:686.8|NCIT:C128802|GARD:0005723														https://rarediseases.info.nih.gov/diseases/6343/enteropathica|https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica				owl:Class
MONDO:0019301	biolink:NamedThing	metabolic disease with skin involvement		mondoexuq1wtf												UMLS:CN205935|Orphanet:79387																		owl:Class
MONDO:0003284	biolink:NamedThing	mediastinum leiomyoma	A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of mediastinum|mediastinal leiomyoma|leiomyoma of the mediastinum|mediastinum leiomyoma											NCIT:C6598|UMLS:C1334659|DOID:5123																		owl:Class
MONDO:0021521	biolink:NamedThing	benign neoplasm of mediastinum	A benign neoplasm that involves the mediastinum.	mondoexuq1wtf	benign neoplasm of the mediastinum|mediastinum benign neoplasm|benign tumor of mediastinum|benign mediastinal neoplasm|benign tumor of the mediastinum|benign mediastinal tumor											ICD10:D15.2|ICD9:212.5|SCTID:92214000|UMLS:C0153956|NCIT:C3604																		owl:Class
MONDO:0009697	biolink:NamedThing	Lafora disease	Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.	mondoexuq1wtf	myoclonic epilepsy of Lafora|Epm2|epilepsy, progressive myoclonic, 2B|progressive myoclonus epilepsy type 2|EPM2|Lafora disease|Lafora progressive myoclonic epilepsy|PME type 2|progressive myoclonic epilepsy type 2|Lafora body disease|epilepsy, progressive myoclonic, 2A|epilepsy progressive myoclonic 2|Lafora's disease|Lafora body disorder|Melf											UMLS:C0751783|OMIM:254780|GARD:0008214|DOID:3534|SCTID:230425004|NCIT:C84804|MedDRA:10054030|ICD10:G40.3|MESH:D020192|Orphanet:501														https://rarediseases.info.nih.gov/diseases/8214/lafora-disease				owl:Class
MONDO:0020074	biolink:NamedThing	progressive myoclonus epilepsy	A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.	mondoexuq1wtf	familial progressive myoclonic epilepsy|PME|epilepsy, progressive myoclonic|progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|progressive myoclonus epilepsy											DOID:891|UMLS:C0751778|MESH:D020191|Orphanet:98261|SCTID:267581004|NCIT:C7636|OMIMPS:254800|GARD:0007140																		owl:Class
MONDO:0001275	biolink:NamedThing	spinal meningioma	Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.	mondoexuq1wtf	meningioma of the spinal cord|spinal cord meningioma|meningioma, spine|meningioma (disease) of spinal cord|meningioma of spinal cord|spinal cord meningioma (disease)											SCTID:189167009|NCIT:C6935|DOID:1138|UMLS:C0347515|GARD:0010264														https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma				owl:Class
MONDO:0001279	biolink:NamedThing	intraspinal meningioma	A meningioma that arises from the spinal meninges.	mondoexuq1wtf	meningioma of the spinal canal and spinal cord|intraspinal meningioma|meningioma of spinal canal and spinal cord|spinal canal and spinal cord meningioma											DOID:1140|UMLS:C1334264|NCIT:C5134																		owl:Class
MONDO:0020392	biolink:NamedThing	discrete fixed membranous subaortic stenosis		mondoexuq1wtf												Orphanet:99051|ICD10:Q24.4																		owl:Class
MONDO:0017727	biolink:NamedThing	fixed subaortic stenosis	Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.	mondoexuq1wtf												Orphanet:3092|ICD10:Q24.4																		owl:Class
MONDO:0014598	biolink:NamedThing	developmental and epileptic encephalopathy, 31	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, type 31|DNM1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 31|early infantile epileptic encephalopathy caused by mutation in DNM1|EIEE31|DEE31											DOID:0080437|UMLS:C4225357|OMIM:616346																		owl:Class
MONDO:0016532	biolink:NamedThing	Lennox-Gastaut syndrome	Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.	mondoexuq1wtf	encephalopathy of childhood|macrocephaly and epileptic encephalopathy|LGS|Lennox syndrome|epileptic encephalopathy Lennox-Gastaut type											MedDRA:10048816|ICD10:G40.4|NCIT:C84816|UMLS:C0238111|SCTID:230418006|Orphanet:2382|OMIM:606369|DOID:0050561|GARD:0009912|MESH:D065768														https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome				owl:Class
MONDO:0013056	biolink:NamedThing	developmental and epileptic encephalopathy, 39	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	mondoexuq1wtf	SLC25A12 early infantile epileptic encephalopathy|aspartate-glutamate carrier 1 deficiency|epileptic encephalopathy, early infantile, 39|DEE39|AGC1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|EIEE39|epileptic encephalopathy with global cerebral demyelination|early infantile epileptic encephalopathy caused by mutation in SLC25A12|hypomyelination, global cerebral											Orphanet:353217|OMIM:612949|DOID:0080349|SCTID:726702005|MESH:C567847|UMLS:C2751855|ICD10:G31.8|UMLS:C4512050																		owl:Class
MONDO:0016801	biolink:NamedThing	mitochondrial substrate carrier disorder		mondoexuq1wtf												Orphanet:254830|UMLS:CN227002																		owl:Class
MONDO:0004407	biolink:NamedThing	stroma-dominant and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.	mondoexuq1wtf	composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor											NCIT:C42060|DOID:7949|UMLS:C1516761																		owl:Class
MONDO:0003325	biolink:NamedThing	nodular ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.	mondoexuq1wtf	ganglioneuroblastoma, nodular											NCIT:C42058|DOID:5193|UMLS:C1517445																		owl:Class
MONDO:0001027	biolink:NamedThing	gonococcal seminal vesiculitis	A gonorrhea that involves the seminal vesicle.	mondoexuq1wtf	gonococcal seminal vesiculitis (acute)|seminal vesicle gonorrhea|gonorrhea of seminal vesicle											UMLS:C0578661|DOID:10400|SCTID:301990003																		owl:Class
MONDO:0004767	biolink:NamedThing	vesiculitis	An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.	mondoexuq1wtf	seminal Sacs|inflammation of seminal vesicle|seminal vesicle|seminal vesicle inflammation|seminal vesiculitis|seminal vesicles|gland, seminal vesicle											DOID:9365|SCTID:27001009|ICD9:608.0|UMLS:C0042588|ICD10:N49.0|COHD:200148|NCIT:C12787																		owl:Class
MONDO:0025030	biolink:NamedThing	digital dermatitis in cattle	Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.	mondoexuq1wtf	digital Papillomatoses|digital dermatitis, papillomatous|footwart, bovine hairy|Papillomatoses, digital|digital Dermatitides|bovine foot Warts|digital Dermatitides, papillomatous|digital Dermatitides, bovine|hairy footwarts, bovine|Dermatitides, bovine digital|digital papillomatosis|Warts, bovine foot|bovine digital Dermatitides|footwarts, bovine hairy|foot wart, bovine|hairy footwart, bovine|wart, bovine foot|papillomatous digital dermatitis|Ovine digital Dermatitides|Ovine digital dermatitis|dermatitis, bovine digital|bovine hairy footwarts|dermatitis, digital|digital dermatitis, Ovine|foot Warts, bovine|bovine hairy footwart|digital dermatitis, bovine|digital Dermatitides, Ovine|papillomatous digital Dermatitides|bovine foot wart|papillomatosis, digital|Dermatitides, digital|bovine digital dermatitis											MESH:D058066																		owl:Class
MONDO:0003118	biolink:NamedThing	testicular Brenner tumor	An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.	mondoexuq1wtf	testes, rudimentary Brenner tumor|testis Brenner tumor											NCIT:C39953|DOID:4739|UMLS:C1515281																		owl:Class
MONDO:0024235	biolink:NamedThing	Brenner tumor	A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.	mondoexuq1wtf	Brenner tumor											ONCOTREE:BTOV|ICDO:9000/0|NCIT:C39954																		owl:Class
MONDO:0010259	biolink:NamedThing	retinitis pigmentosa 24	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.	mondoexuq1wtf	retinitis pigmentosa type 24|RP24|retinitis pigmentosa 24|RP 24											GARD:0010389|UMLS:C3887982|DOID:0110416|ICD10:H35.5|OMIM:300155														https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24				owl:Class
MONDO:0009196	biolink:NamedThing	ermine phenotype	Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.	mondoexuq1wtf	ermine phenotype|black locks with albinism and deafness syndrome|BADS|BADS syndrome|pigmentary disorder with hearing loss|O'Doherty syndrome|black locks, oculocutaneous albinism, and deafness of the sensorineural type											MEDGEN:82812|MESH:C535508|ICD9:270.2|MESH:C562663|Orphanet:999|UMLS:C0268501|OMIM:227010|GARD:0000407|SCTID:10170007|UMLS:C1856899|ICD10:E70.3														https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype				owl:Class
MONDO:0007277	biolink:NamedThing	cataract-aberrant oral frenula-growth delay syndrome	Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	mondoexuq1wtf	Wellesley Carmen French syndrome|cataracts, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataract, aberrant oral frenula, and growth retardation											Orphanet:1373|GARD:0005554|ICD10:Q87.8|SCTID:715988005|MESH:C536691|OMIM:115645																		owl:Class
MONDO:0022672	biolink:NamedThing	autosomal dominant cataract	A syndromic cataract that has autosomal dominant inheritance.	mondoexuq1wtf	cataract congenital autosomal dominant											GARD:0001143														https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant				owl:Class
MONDO:0018690	biolink:NamedThing	Holmes-Adie syndrome	A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.	mondoexuq1wtf	Adie pupil|Adie's pupil|Adie's pupil or syndrome|Adie's syndrome|tonic pupil-tendon areflexia syndrome|poorly Reacting pupils|Adie syndrome|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|Holmes-Adie syndrome|Adie's pupil syndrome|tonic pupil											SCTID:24225004|MESH:D000270|ICD10:H57.0|EFO:0004126|NCIT:C34357|GARD:0005749|Orphanet:454718|UMLS:C0001519|OMIM:103100|DOID:11549																		owl:Class
MONDO:0006658	biolink:NamedThing	arteriolosclerosis	The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.	mondoexuq1wtf	arteriolosclerosis (morphologic abnormality)											NCIT:C35543|ICD10:I70|MESH:D050379|DOID:5162|EFO:1000819|UMLS:C0878486																		owl:Class
MONDO:0021661	biolink:NamedThing	coronary atherosclerosis	Atherosclerosis of the coronary vasculature.	mondoexuq1wtf	arteriosclerosis disorder of coronary artery|coronary atherosclerosis|coronary artery arteriosclerosis (disease)|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder											NCIT:C35505|SCTID:443502000|ICD9:414.00																		owl:Class
MONDO:0043291	biolink:NamedThing	Rokitansky-Aschoff sinuses of the gallbladder	An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.	mondoexuq1wtf	Rokitansky-Aschoff sinuses|intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses											UMLS:C0267892|SCTID:22149007|GARD:0009419|MESH:C535869																		owl:Class
MONDO:0010674	biolink:NamedThing	mucopolysaccharidosis type 2	Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.	mondoexuq1wtf	deficiency of iduronate-2-sulphatase|I2S deficiency|mucopolysaccharidosis, type II|Ids deficiency|MPS II|Hunter's syndrome|MPS 2|mucopolysaccharidosis II|mucopolysaccharidosis type II|MPS2|severe MPS II|Hunter syndrome|iduronate 2-sulfatase deficiency|MPSII|MPS II - Hunter syndrome|mucopolysaccharidosis, MPS-II|attenuated MPS (subtype; formerly known as mild MPS II)|sulfoiduronate sulfatase deficiency|Sids deficiency|mucopolysaccharidosis, type 2											MedDRA:10056889|DOID:12799|SCTID:70737009|Orphanet:580|OMIM:309900|ICD10:E76.1|UMLS:C0026705|NCIT:C61260|GARD:0006675|MESH:D016532																		owl:Class
MONDO:0010590	biolink:NamedThing	FG syndrome 1	Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.	mondoexuq1wtf	OKS|Keller syndrome|MED12 FG syndrome|FG syndrome type 1|FG syndrome caused by mutation in MED12|FG syndrome 1|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FG syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Opitz-Kaveggia syndrome											Orphanet:93932|OMIM:305450																		owl:Class
MONDO:0019525	biolink:NamedThing	tetrasomy X	Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).	mondoexuq1wtf	tetrasomy type X|48 XXXX syndrome|48,XXXX syndrome|tetra X|48 XXXX|quadruple X											SCTID:10567003|UMLS:C0265496|MESH:C536502|Orphanet:9|ICD10:Q97.1|GARD:0007754|ICD9:758.81														https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x				owl:Class
MONDO:0030502	biolink:NamedThing	tetrasomy	A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.	mondoexuq1wtf	tetrasomy											NCIT:C36601|MESH:D058670|EFO:1001297																		owl:Class
MONDO:0010645	biolink:NamedThing	oculocerebrorenal syndrome	Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.	mondoexuq1wtf	OCR|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|Lowe oculocerebrorenal syndrome|Lowe syndrome|OCRL|Lowe disease|Ocrl1|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculo-cerebro-renal syndrome|Lowe oculo-cerebro-renal syndrome|oculocerebrorenal syndrome of Lowe|oculocerebrorenal dystrophy											GARD:0003295|ICD9:270.8|ICD10:E72.0|ICD10:E72.03|DOID:1056|OMIM:309000|MESH:D009800|MedDRA:10051707|UMLS:C0028860|SCTID:79385002|NCIT:C84940|Orphanet:534																		owl:Class
MONDO:0015962	biolink:NamedThing	inherited renal tubular disease		mondoexuq1wtf	genetic renal tubular disease											UMLS:CN200561|Orphanet:183592																		owl:Class
MONDO:0032760	biolink:NamedThing	developmental delay with or without dysmorphic facies and autism		mondoexuq1wtf	DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM|DEDDFA											OMIM:618454																		owl:Class
MONDO:0021350	biolink:NamedThing	neoplasm of thorax	A neoplasm (disease) that involves the thoracic segment of trunk.	mondoexuq1wtf	thoracic segment of trunk neoplasm (disease)|tumor of thoracic segment of trunk|thoracic neoplasm|neoplasm of thoracic segment of trunk|thoracic segment of trunk tumor|tumor of the thorax|thoracic tumor|thoracic segment of trunk neoplasm|neoplasm of the thorax|tumor of thorax											NCIT:C3406|ICD9:239.89|SCTID:255058005|UMLS:C0039981																		owl:Class
MONDO:0016230	biolink:NamedThing	simple vascular malformation		mondoexuq1wtf												Orphanet:211243																		owl:Class
MONDO:0019063	biolink:NamedThing	vascular anomaly		mondoexuq1wtf	vascular anomaly or angioma					Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2						Orphanet:68419																		owl:Class
MONDO:0002665	biolink:NamedThing	extrahepatic bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct	mondoexuq1wtf	adenocarcinoma of the extrahepatic bile duct|extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct											NCIT:C7975|UMLS:C0279659|DOID:3495																		owl:Class
MONDO:0003193	biolink:NamedThing	bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the bile duct	mondoexuq1wtf	bile duct adenocarcinoma											DOID:4896|UMLS:C1370800|NCIT:C27813																		owl:Class
MONDO:0007029	biolink:NamedThing	branchio-oto-renal syndrome	A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).	mondoexuq1wtf	Branchio-otorenal dysplasia|bor syndrome|Branchio-Oto-renal syndrome|branchiootorenal dysplasia|branchiootorenal syndrome|Branchio oto renal syndrome|Melnick-Fraser syndrome					(From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required.						ICD9:759.89|Orphanet:107|SCTID:290006|NCIT:C98983|UMLS:C0265234|DOID:14702|MedDRA:10071135|Wikipedia:Branchio-oto-renal_syndrome|MESH:D019280|UMLS:CN043574|ICD10:Q87.8|EFO:1001251|GARD:0010147																		owl:Class
MONDO:0019721	biolink:NamedThing	syndromic renal or urinary tract malformation	A renal or urinary tract malformation that is part of a larger syndrome.	mondoexuq1wtf	syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract											UMLS:CN227683|Orphanet:93547																		owl:Class
MONDO:0014380	biolink:NamedThing	colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	mondoexuq1wtf	microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|MCSKS|microphthalmia, syndromic 14|microphthalmia, syndromic type 14|MCOPS14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia/coloboma and skeletal dysplasia syndrome											ICD10:Q87.5|Orphanet:424099|UMLS:C4014540|OMIM:615877																		owl:Class
MONDO:0019697	biolink:NamedThing	mesomelic and rhizo-mesomelic dysplasia		mondoexuq1wtf												UMLS:CN229208|Orphanet:93438																		owl:Class
MONDO:0002766	biolink:NamedThing	larynx verrucous carcinoma	A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.	mondoexuq1wtf	larynx verrucous carcinoma|verrucous carcinoma of the larynx|verrucous carcinoma of larynx|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer											UMLS:C0280328|SCTID:707427000|DOID:3752|NCIT:C8188																		owl:Class
MONDO:0005358	biolink:NamedThing	Dengue hemorrhagic fever	A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.	mondoexuq1wtf	Dengue haemorrhagic fever|DHF											EFO:0004227|ICD10:A91|DOID:12206|NCIT:C34683|SCTID:20927009																		owl:Class
MONDO:0005502	biolink:NamedThing	dengue disease	Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).	mondoexuq1wtf	Dengue virus caused disease or disorder|Singapore hemorrhagic fever|hemorrhagic dengue|classical dengue|breakbone fever|Philippine hemorrhagic fever|Dengue virus infectious disease|Dengue|Dengue fever|Thai hemorrhagic fever|classic dengue|DF|Dengue virus infection|Dengue virus disease or disorder|break bone fever											UMLS:C0011311|GARD:0006254|ICD10:A90|ICD10:A97.0|ICD10:A97.1|ICD10:A97.9|MESH:D003715|DOID:12205|Orphanet:99828|ICD9:061|EFO:0005547|SCTID:38362002|ICD10:A97.2|NCIT:C34528|MedDRA:10012310																		owl:Class
MONDO:0019454	biolink:NamedThing	myelodysplastic syndrome with excess blasts	A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.	mondoexuq1wtf	refractory Anemia with an Excess of blasts|refractory Anemia with Excess blasts|myelodysplastic syndrome with Excess blasts|RAEB|MDS-EB											Orphanet:86839|MESH:D000754|ICD10:D46.2|NCIT:C7506|ICDO:9983/3|EFO:0003811|COHD:136949|SCTID:398623004|UMLS:C0002894|MedDRA:10038270																		owl:Class
MONDO:0044881	biolink:NamedThing	hematopoietic and lymphoid cell neoplasm	A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.	mondoexuq1wtf	hematopoietic cell tumor|hematological neoplasm|hematological tumor|hematopoietic, Including myeloma|malignant hematologic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematopoietic tumor|hematopoietic malignancy, NOS|hematopoietic and lymphoid cell neoplasm|hematologic neoplasm|hematologic malignancy|hematopoietic neoplasm|malignant hematopoietic neoplasm|hematopoietic neoplasms including Lymphomas|hematologic cancer|hematopoietic and lymphoid neoplasms|hematopoietic cancer											NCIT:C27134																		owl:Class
MONDO:0003505	biolink:NamedThing	femoral cancer	A cancer involving a femur.	mondoexuq1wtf	malignant femur neoplasm|femoral neoplasm|malignant neoplasm of femur|neoplasm of femur|cancer of femur|femur cancer											EFO:0007270|MESH:D005266|DOID:5546																		owl:Class
MONDO:0007354	biolink:NamedThing	coloboma of optic nerve		mondoexuq1wtf	congenital coloboma of the optic nerve|morning glory Disc anomaly|optic nerve coloboma|optic nerve head pits, bilateral congenital|coloboma of optic nerve|coloboma of optic nerve (disease)		coloboma of optic nerve (disease)									ICD10:H47.319|ICD9:377.23|ICD10:H47.31|OMIM:120430|SCTID:17541006|ICD10:Q14.2|MESH:C535970|HP:0000588|DOID:11975|GARD:0008502																		owl:Class
MONDO:0001834	biolink:NamedThing	visual pathway disease	A disorder of the neural pathway from the optic nerve to the visual cortex.	mondoexuq1wtf	disorder of optic tract|optic tract disease or disorder|visual pathway disorder|optic tract disease|disease or disorder of optic tract|optic tract disorder|disease of optic tract					Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract						DOID:1393|UMLS:C0155287|ICD10:H47.9|NCIT:C35342|SCTID:54767005|SCTID:95776004																		owl:Class
MONDO:0020322	biolink:NamedThing	acute biphenotypic leukemia	An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)	mondoexuq1wtf	B- and T-cell mixed leukemia											MedDRA:10067399|ICD9:207.80|DOID:9953|NCIT:C4673|Orphanet:98837|UMLS:C0023464|MESH:D015456|ICDO:9805/3|EFO:1000828|ICD10:C95.0|SCTID:278453007																		owl:Class
MONDO:0020743	biolink:NamedThing	mixed phenotype acute leukemia	An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.	mondoexuq1wtf	MPAL|mixed phenotype acute leukemia											ICD10:C95.0|Orphanet:530995|MedDRA:10067399|NCIT:C82179																		owl:Class
MONDO:0012137	biolink:NamedThing	Carney complex - trismus - pseudocamptodactyly syndrome	Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	mondoexuq1wtf	CARNEY complex variant|Carney complex variant											Orphanet:319340|ICD10:Q68.8|OMIM:608837																		owl:Class
MONDO:0016432	biolink:NamedThing	heart-hand syndrome	Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.	mondoexuq1wtf	atriodigital dysplasia											UMLS:CN201390|Orphanet:228184|ICD10:Q87.2																		owl:Class
MONDO:0006780	biolink:NamedThing	heartwater disease	A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.	mondoexuq1wtf	disease, heartwater											EFO:1000960|MESH:D006357|UMLS:C0018835																		owl:Class
MONDO:0005831	biolink:NamedThing	lymph node tuberculosis	Tuberculosis of the lymph node.	mondoexuq1wtf	scrofula|king's evil|tuberculous adenitis|lymph node tuberculosis|tuberculous lymphadenopathy											MESH:D014388|EFO:0007350|DOID:4889|NCIT:C26896|SCTID:10893003|ICD10:A18.2																		owl:Class
MONDO:0004928	biolink:NamedThing	lymph node disease	Any disorder of the lymph nodes.	mondoexuq1wtf	lymph node disorder|disease of lymph node|disorder of lymph node|lymph node disease or disorder|lymph node disease|disease or disorder of lymph node											DOID:9942|SCTID:76616003|UMLS:C0272394|NCIT:C35346																		owl:Class
MONDO:0012593	biolink:NamedThing	brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).	mondoexuq1wtf	choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome|CAHTP|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|BLT syndrome|choreoathetosis-hypothyroidism-neonatal respiratory distress											SCTID:719098007|MESH:C567034|Orphanet:209905|GARD:0012163|ICD10:E03.1|OMIM:610978														https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome				owl:Class
MONDO:0015778	biolink:NamedThing	syndromic hypothyroidism	A hypothyroidism that is part of a larger syndrome.	mondoexuq1wtf	syndromic hypothyroidism|syndrome associated with hypothyroidism											Orphanet:177107|UMLS:CN226739																		owl:Class
MONDO:0044925	biolink:NamedThing	oral cavity carcinoma	A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.	mondoexuq1wtf	oral cavity cancer|mouth carcinoma|carcinoma of the oral cavity|oral cavity carcinoma|carcinoma of mouth|carcinoma of oral cavity											UMLS:C0151546|NCIT:C8990																		owl:Class
MONDO:0006181	biolink:NamedThing	digestive system carcinoma	A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.	mondoexuq1wtf	digestive system carcinoma|carcinoma of digestive system|carcinoma of the gastrointestinal system|gastrointestinal carcinoma|gastrointestinal carcinoma (disease)|gastrointestinal system carcinoma											EFO:1000218|DOID:0050922|NCIT:C96963|HP:0002672|UMLS:C0151544																		owl:Class
MONDO:0011173	biolink:NamedThing	thrombocythemia 2	Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene.	mondoexuq1wtf	thrombocythemia 2|THCYT2|essential thrombocythemia caused by mutation in MPL|MPL essential thrombocythemia|thrombocythemia type 2											OMIM:601977|UMLS:C3275998																		owl:Class
MONDO:0005029	biolink:NamedThing	essential thrombocythemia	A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)	mondoexuq1wtf	ET|essential thrombocytosis|essential thrombocythemia|primary thrombocytosis|hemorrhagic thrombocythemia|idiopathic thrombocythemia|essential thrombocytemia|essential thrombocythaemia|primary thrombocythemia											COHD:438383|ICDO:9962/3|SCTID:109994006|DOID:2224|MESH:D013920|ICD10:D47.3|UMLS:C0040028|MedDRA:10015493|GARD:0006594|ONCOTREE:ET|EFO:0000479|ICD9:238.71|Orphanet:3318|NCIT:C3407														https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia				owl:Class
MONDO:0004672	biolink:NamedThing	fasciolopsiasis	A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.	mondoexuq1wtf	infection by Fasciolopsis buski|infectious disease by Fasciolopsis											DOID:888|SCTID:54266002|NCIT:C128388|UMLS:C0015656|ICD10:B66.5|ICD9:121.4																		owl:Class
MONDO:0004664	biolink:NamedThing	helminthiasis	A parasitic infection characterized by the infestation with worms, mainly in the intestine.	mondoexuq1wtf	helminth infection|worm infection|parasitic helminthiasis infectious disease|helminthiasis|helminthosis					Editor note: this is a vague grouping and does not correspond to any one taxon						ICD10:B65.B83|NCIT:C84751|ICD9:128.9|COHD:441793|ICD10:B83.9|MESH:D006373|UMLS:C0018889|SCTID:27601005|DOID:883|ICD10:B65-B83|GARD:0006578|ICD9:128.8|EFO:1001342|ICD9:120-129.99																		owl:Class
MONDO:0017496	biolink:NamedThing	congenital absence of thigh and lower leg with foot present, unilateral		mondoexuq1wtf	Femorotibiofibular intercalary transverse meromelia, unilateral											ICD10:Q72.1|Orphanet:295089																		owl:Class
MONDO:0017442	biolink:NamedThing	congenital absence of thigh and lower leg with foot present		mondoexuq1wtf	Femorotibiofibular intercalary transverse meromelia											ICD10:Q72.1|SCTID:55852007|Orphanet:294977|ICD9:755.33																		owl:Class
MONDO:0023388	biolink:NamedThing	pityriasis rotunda	Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.	mondoexuq1wtf	Pityriasis rotunda											SCTID:238639005|UMLS:C0343060|GARD:0010904																		owl:Class
MONDO:0005093	biolink:NamedThing	skin disease	Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.	mondoexuq1wtf	zone of skin disease|disease or disorder of zone of skin|dermatosis|skin disorder|cutaneous disorder|disorder of zone of skin|skin and subcutaneous tissue disease|genodermatosis|zone of skin disease or disorder|disease of zone of skin|skin diseases and manifestations|disorder of skin											ICD9:709.8|ICD9:702.8|MESH:D012871|EFO:0000701|ICD9:702|NCIT:C3371|SCTID:95320005|DOID:37																		owl:Class
MONDO:0012520	biolink:NamedThing	insulin-resistance syndrome type A	Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.	mondoexuq1wtf	type A insulin resistance syndrome|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|Iran, type a|insulin-resistant acanthosis nigricans, type A											ICD10:E13|GARD:0003008|NCIT:C131836|Orphanet:2297|MESH:C562710|OMIM:610549|EFO:1001503																		owl:Class
MONDO:0019052	biolink:NamedThing	inborn errors of metabolism	An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.	mondoexuq1wtf	inborn metabolic disorder|inborn metabolism disorder|congenital metabolic disorder|inborn errors of metabolism|inherited metabolic disorder|metabolic hereditary disorder|inborn error of metabolism|inherited disorders of metabolism|hereditary metabolic disease|inherited disorder of metabolism|rare inherited metabolic disorder|rare inborn errors of metabolism|rare metabolic disease|congenital metabolism disorder|inborn disorders of metabolism											MESH:D008661|NCIT:C34816|MedDRA:10058097|SCTID:86095007|DOID:655|Orphanet:68367|MedDRA:10062018|UMLS:C0025521														https://github.com/monarch-initiative/mondo/issues/1483				owl:Class
MONDO:0019648	biolink:NamedThing	achondrogenesis	Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.	mondoexuq1wtf												Orphanet:932|OMIMPS:200600|ICD10:Q77.0|MESH:C579878|UMLS:C0001079|GARD:0002882|NCIT:C84527|SCTID:2391001|DOID:0080043|MedDRA:10066122														https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis				owl:Class
MONDO:0008558	biolink:NamedThing	autoimmune thrombocytopenic purpura	An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.	mondoexuq1wtf	autoimmune thrombocytopenic purpura|idiopathic thrombocytopenia|Ideopath thrombocytopenic pur|primary thrombocytopenic purpura|idiopathic thrombocytopenic purpura|werlhof's disease|immune thrombocytopenic purpura|idiopathic purpura|ITP|thrombocytopenic purpura, autoimmune|AITP|idiopathic thrombocytopenia purpura|thrombocytopenic purpura autoimmune|immune thrombocytopenia											Orphanet:3002|GARD:0005194|MedDRA:10021245|ICD9:287.31|COHD:4120621|NCIT:C3446|DOID:8924|ICD10:D69.3|EFO:0007160|OMIM:188030																		owl:Class
MONDO:0100241	biolink:NamedThing	inherited thrombocytopenia	An instance of thrombocytopenia that is inherited.	mondoexuq1wtf	hereditary thrombocytopenia							http://orcid.org/0000-0001-5208-3432				OMIMPS:313900																		owl:Class
MONDO:0006921	biolink:NamedThing	Actinomycetales infectious disease	Infections with bacteria of the order actinomycetales.	mondoexuq1wtf	actinomycete infection|infection caused by actinomycetales|actinomycetales caused disease or disorder|actinomycotic infectious disease|actinomycetales infection|actinomycete infections|actinomycosis|infections, actinomycetales|actinomycetales disease or disorder|infection, actinomycete|infections, actinomycete|infection, actinomycetales|actinomycotic infection|actinomycetales infections											SCTID:11817007|ICD9:039.8|UMLS:C0001255|NCIT:C84534|ICD9:039.9|EFO:1001122|SCTID:721751007|MESH:D000193																		owl:Class
MONDO:0024389	biolink:NamedThing	anaerobic bacteria infectious disease		mondoexuq1wtf	infection caused by anaerobic bacteria|anaerobic bacterial infection|infection due to anaerobic bacteria					Editor note: DP						SCTID:423451008|UMLS:C0854328|ICD9:041.84																		owl:Class
MONDO:0018893	biolink:NamedThing	Cobb syndrome	Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.	mondoexuq1wtf	spinal arteriovenous metameric syndrome|SAMS 1-31|cutaneomeningospinal angiomatosis|Cobb's syndrome											ICD9:239.2|GARD:0011892|ICD10:Q27.3|NCIT:C4485|Orphanet:53721|MedDRA:10068841|UMLS:C0346068|SCTID:254774003														https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome				owl:Class
MONDO:0015356	biolink:NamedThing	hereditary neoplastic syndrome	The inherited predisposition toward getting a tumor.	mondoexuq1wtf	familial tumor syndrome|neoplastic syndrome, hereditary|syndromes, hereditary neoplastic|familial neoplastic syndrome|cancer syndromes, hereditary|hereditary neoplastic syndromes|inherited cancer syndrome|hereditary neoplastic syndrome|hereditary tumor syndrome|cancer syndrome, hereditary|hereditary cancer syndromes|inherited cancer-predisposing syndrome|hereditary cancer syndrome|syndrome, hereditary cancer|syndrome, hereditary neoplastic|syndromes, hereditary cancer											SCTID:699346009|MESH:D009386|Orphanet:140162|UMLS:CN199448|UMLS:CN882908|UMLS:C0027672|NCIT:C3266																		owl:Class
MONDO:0040566	biolink:NamedThing	inherited glutathione metabolism disease	An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process.	mondoexuq1wtf	glutathione metabolism disorder, inherited|inborn error of glutathione metabolism|inborn error of glutathione metabolic process|rare inborn error of glutathione metabolic process|inborn glutathione metabolic process disorder											SCTID:72262000|UMLS:C0268518																		owl:Class
MONDO:0019241	biolink:NamedThing	inborn disorder of the gamma-glutamyl cycle		mondoexuq1wtf	disorder of gamma-glutamyl cycle|disorder of the gamma-glutamyl cycle					Editor note: request from GO						SCTID:9128006|UMLS:C0268517|ICD10:E72.8|Orphanet:79196																		owl:Class
MONDO:0018617	biolink:NamedThing	baroreflex failure	Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.	mondoexuq1wtf												UMLS:CN237655|Orphanet:443084|ICD10:G90.4|GARD:0010664														https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure				owl:Class
MONDO:0001292	biolink:NamedThing	autonomic nervous system disease	A disease involving the autonomic nervous system.	mondoexuq1wtf	segmental autonomic dysfunction|disease or disorder of autonomic nervous system|peripheral autonomic nervous system diseases|autonomic dysfunction, segmental|disorder of peripheral autonomic nervous system|autonomic nervous system disorder|nervous system diseases, sympathetic|disease of autonomic nervous system|disorder of the autonomic nervous system|disorder of autonomic nervous system|ANS (autonomic nervous system) diseases|ANS diseases|central autonomic nervous system diseases|autonomic peripheral nervous system diseases|disorders of the autonomic nervous system|dysautonomia|nervous system diseases, autonomic|autonomic nervous system disease|autonomic diseases|autonomic dysfunctions, segmental|ANS disease|autonomic nervous system disease or disorder|autonomic nervous system disorders|autonomic disease|autonomic central nervous system diseases|segmental autonomic dysfunctions|autonomic nervous disease					Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html						SCTID:15241006|MESH:D001342|COHD:434633|ICD9:337.9|DOID:11465|SCTID:128123007|ICD9:337.1																		owl:Class
MONDO:0006054	biolink:NamedThing	reproductive system neoplasm	A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.	mondoexuq1wtf	neoplasm of reproductive system|neoplasm of the reproductive system|tumor of the reproductive system|reproductive system neoplasm|reproductive neoplasm|reproductive system neoplasm (disease)|tumor of reproductive system|reproductive system tumor|reproductive tumor											UMLS:C0178830|EFO:1000051|NCIT:C3674																		owl:Class
MONDO:0009564	biolink:NamedThing	Marden-Walker syndrome	Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.	mondoexuq1wtf	MWKS|Mws|MARDEN-WALKER syndrome|Marden-Walker syndrome|connective tissue disorder Marden Walker type											MESH:C535910|ICD9:759.89|Orphanet:2461|OMIM:248700|GARD:0006973|ICD10:Q87.0|SCTID:449824004																		owl:Class
MONDO:0008222	biolink:NamedThing	Andersen-Tawil syndrome	Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.	mondoexuq1wtf	Potassium-sensitive cardiodysrhythmic type|LQT7|ATS|long QT syndrome type 7|cardiodysrhythmic potassium-sensitive periodic paralysis|long QT syndrome 7|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|Andersen syndrome|Andersen-Tawil syndrome|Andersen cardiodysrhythmic periodic paralysis|periodic paralysis, Potassium-sensitive cardiodysrhythmic type											ICD9:759.89|OMIM:170390|UMLS:C1563715|SCTID:422348008|MESH:D050030|ICD10:G72.3|NCIT:C84559|DOID:0050434|Orphanet:37553|GARD:0009453																		owl:Class
MONDO:0019171	biolink:NamedThing	familial long QT syndrome	A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.	mondoexuq1wtf	hereditary long QT syndrome|congenital long QT syndrome|Ward-Romano syndrome|Romano-Ward syndrome|LQTS|Romano-Ward long QT syndrome											OMIMPS:192500|ICD10:I45.8|Orphanet:768|UMLS:C0035828|UMLS:C1141890|SCTID:442917000|MedDRA:10057926																		owl:Class
MONDO:0004189	biolink:NamedThing	esophageal tuberculosis	A tuberculosis that involves the esophagus.	mondoexuq1wtf	tuberculosis of esophagus|esophagus tuberculosis											DOID:7332|SCTID:15284007|UMLS:C0152902|ICD9:017.83|ICD9:017.81|ICD9:017.8|ICD9:017.80																		owl:Class
MONDO:0003749	biolink:NamedThing	esophageal disease	A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.	mondoexuq1wtf	esophageal ulcer|esophageal disorder|esophagus disease or disorder|disease or disorder of esophagus|disease of esophagus|disorder of esophagus|esophagus disease											SCTID:37657006|ICD10:K22.9|NCIT:C3027|MESH:D004935|DOID:6050|SCTID:30811009|ICD9:530.9|UMLS:C0014852|ICD9:530|ICD9:530.2|ICD9:530.20																		owl:Class
MONDO:0024610	biolink:NamedThing	parasitic skin disease	Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.	mondoexuq1wtf	disease, parasitic skin|diseases, parasitic skin|skin disease, parasitic|parasitic skin disease|parasitic skin diseases											UMLS:C0037280|MESH:D012876																		owl:Class
MONDO:0024294	biolink:NamedThing	skin disease caused by infection	Skin diseases caused by bacteria, fungi, parasites, or viruses.	mondoexuq1wtf	infectious skin disease|disease, infectious skin|diseases, infectious skin|skin disease, infectious|infectious skin diseases											MESH:D012874																		owl:Class
MONDO:0010226	biolink:NamedThing	46,XY sex reversal 2		mondoexuq1wtf	dosage-sensitive Sex reversal|46,XY Sex reversal, Dax1-related|46,XY SEX reversal 2|SRXY2|46,XY sex reversal 2|46,XY Sex reversal type 2											MESH:C535601|DOID:0111777|OMIM:300018|UMLS:C1848296																		owl:Class
MONDO:0010765	biolink:NamedThing	46,XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.	mondoexuq1wtf	pure gonadal dysgenesis 46,XY|46,XY gonadal dysgenesis|sex-reversing locus on X, formerly|Swyer syndrome|46,XY SEX reversal|46,XY pure gonadal dysgenesis|46,XY CGD|46 XY gonadal dysgenesis|46, XY complete gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY pure gonadal dysgenesis|gonadal dysgenesis, XY female type|46, XY CGD|sex-reversing locus on X											DOID:14448|GARD:0005068|NCIT:C120198|MESH:D006061|Orphanet:242|ICD10:Q99.1|UMLS:C2936694|OMIMPS:400044|SCTID:95218005|UMLS:C0018054																		owl:Class
MONDO:0010503	biolink:NamedThing	Bartter disease type 5	Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.	mondoexuq1wtf	Bartter syndrome, type 5, antenatal, transient|MAGED2 Bartter syndrome|BARTS5|Bartter syndrome caused by mutation in MAGED2											UMLS:C4310820|DOID:0110147|ICD10:E26.8|OMIM:300971																		owl:Class
MONDO:0100343	biolink:NamedThing	antenatal Bartter syndrome	A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.	mondoexuq1wtf	Bartter syndrome, furosemide type|Bartter syndrome, furosemide-amiloride type|hyperprostaglandin E syndrome							http://orcid.org/0000-0001-5208-3432				Orphanet:93604																		owl:Class
MONDO:0019470	biolink:NamedThing	aggressive NK-cell leukemia	A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.	mondoexuq1wtf	NK cell leukemia|NK-cell large granular lymphocyte leukemia|NK-cell LGL leukemia|aggressive NK-cell leukemia/lymphoma|aggressive NK-cell leukemia|aggressive NK cell leukemia|aggressive natural killer cell leukemia|ANKL|aggressive NK-cell leukemia (morphologic abnormality)|aggressive NK-cell lymphoma|ANKCL|leukemia (disease) of natural killer cell|natural Killer cell leukemia|natural killer cell leukemia (disease)|NK-cell leukemia|natural killer cell leukemia|large granular lymphocyte leukemia, NK-cell type											UMLS:C1292777|NCIT:C8647|ICD10:C94.8|ICDO:9948/3|GARD:0010493|DOID:1035|SCTID:721310007|ICD10:C94.7|MedDRA:10028811|Orphanet:86873|ONCOTREE:ANKL														https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia				owl:Class
MONDO:0044201	biolink:NamedThing	T+ B+ severe combined immunodeficiency		mondoexuq1wtf	T-cell positive B-cell positive SCID|T+B+ SCID											ICD10:D81.2|Orphanet:397802																		owl:Class
MONDO:0015974	biolink:NamedThing	severe combined immunodeficiency	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.	mondoexuq1wtf	severe combined immunodeficiency (disease)|severe combined immunodeficiency disease|SCID|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency		severe combined immunodeficiency (disease)									MedDRA:10069566|HP:0004430|UMLS:C0085110|DOID:627|ICD10:D81.1|MESH:D016511|SCTID:31323000|NCIT:C3472|ICD10:D81.0|Orphanet:183660|ICD10:D81.9|GARD:0007628|ICD10:D81.3|ICD10:D81.2|COHD:29783																		owl:Class
MONDO:0023048	biolink:NamedThing	ectodermal dysplasia neurosensory deafness		mondoexuq1wtf												GARD:0002053														https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness				owl:Class
MONDO:0019287	biolink:NamedThing	ectodermal dysplasia syndrome	The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.	mondoexuq1wtf	congenital ectodermal defect|ectodermal dysplasia (select examples)|ectodermal dysplasia											SCTID:8654005|MESH:D004476|NCIT:C84683|Orphanet:79373|GARD:0006317|DOID:2121|COHD:134757|MedDRA:10010452|UMLS:C0013575|ICD9:757.31|OMIMPS:305100																		owl:Class
MONDO:0024410	biolink:NamedThing	infection caused by Bifidobacterium	A disease caused by infection with Bifidobacterium.	mondoexuq1wtf	Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium caused disease or disorder|Bifidobacterium infectious disease|infection caused by Bifidobacterium											SCTID:721759009|UMLS:C1096283																		owl:Class
MONDO:0021679	biolink:NamedThing	gram-positive bacterial infections	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.	mondoexuq1wtf	bacterial infections, Gram-positive|Gram Positive bacterial infections|infections, Gram-positive bacterial|bacterial infection, Gram-positive|Gram-positive bacterial infection|bacterial infections, Gram Positive|infection, Gram-positive bacterial|infections, Gram Positive bacterial					Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now						SCTID:371582002|ICD9:041.89|MESH:D016908																		owl:Class
MONDO:0018347	biolink:NamedThing	severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome		mondoexuq1wtf	severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability											Orphanet:397933|ICD10:Q87.8|UMLS:CN226082																		owl:Class
MONDO:0020119	biolink:NamedThing	X-linked syndromic intellectual disability	A syndromic intellectual disability with an X-linked mode of inheritance.	mondoexuq1wtf	syndromic X-linked mental retardation|syndromic X-linked intellectual disability|syndromic intellectual disability, X-linked|intellectual disability, X-linked syndromic|mental retardation, X-linked syndromic											OMIMPS:309510|DOID:0060309|Orphanet:98464																		owl:Class
MONDO:0000291	biolink:NamedThing	granulomatous amebic encephalitis	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.	mondoexuq1wtf	granulomatous amebic encephalitis due to Acanthamoeba|Acanthamoeba encephalitis|granulomatous amoebic encephalitis|Acanthamoeba granulomatous encephalitis											SCTID:230187000|GARD:0012651|ICD9:323.2|UMLS:C0338428|DOID:0050246														https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis				owl:Class
MONDO:0020067	biolink:NamedThing	infectious encephalitis	An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.	mondoexuq1wtf	encephalitis infection											NCIT:C79550|MESH:D000069544|ICD9:049.8|ICD9:323.4|SCTID:312215006																		owl:Class
MONDO:0010922	biolink:NamedThing	Satoyoshi syndrome	Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.	mondoexuq1wtf	Satoyoshi syndrome|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities|Komuragaeri disease											GARD:0000160|Orphanet:3130|MESH:C536616|MedDRA:10070579|SCTID:763630007|OMIM:600705|UMLS:C1833454														https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome				owl:Class
MONDO:0019852	biolink:NamedThing	inherited primary ovarian failure	An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	non-acquired premature ovarian failure|inherited premature ovarian failure|hereditary primary ovarian failure											OMIMPS:311360|ICD10:E28.3|Orphanet:95710																		owl:Class
MONDO:0019027	biolink:NamedThing	otopalatodigital syndrome	Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	mondoexuq1wtf	oto-palatal-digital syndrome|Taybi syndrome|oto-palato-digital syndrome|type 2 (Andre syndrome)											ICD10:Q87.0|SCTID:767130007|UMLS:CN205496|Orphanet:669|GARD:0007293																		owl:Class
MONDO:0009728	biolink:NamedThing	nephronophthisis 1	Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.	mondoexuq1wtf	nephronophthisis 1|nephronophthisis (disease) caused by mutation in NPHP1|juvenile nephronophthisis 1|NPHP1 nephronophthisis (disease)|NPH1|NPHP1|nephronophthisis, familial juvenile|familial juvenile nephronophthisis|Nph1|juvenile nephronophthisis|nephronophthisis type 1											NCIT:C74998|ICD10:Q61.5|MESH:C537699|UMLS:C1855681|OMIM:256100|UMLS:CN205459|DOID:0111112|Orphanet:93592|SCTID:444830001																		owl:Class
MONDO:0012164	biolink:NamedThing	Meacham syndrome	Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	mondoexuq1wtf	Meacham Winn Culler syndrome|Meacham syndrome|Meacham-Winn-Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome											Orphanet:3097|GARD:0003432|SCTID:722461004|UMLS:C1837026|ICD10:Q87.8|OMIM:608978																		owl:Class
MONDO:0015846	biolink:NamedThing	syndromic uterovaginal malformation	A uterovaginal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation											UMLS:CN226751|Orphanet:180148																		owl:Class
MONDO:0018123	biolink:NamedThing	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	mondoexuq1wtf	autosomal recessive intellectual disability due to TRAPPC9 deficiency											Orphanet:352530|UMLS:CN204496|ICD10:Q04.8																		owl:Class
MONDO:0100021	biolink:NamedThing	photosensitive occipital lobe epilepsy	A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.	mondoexuq1wtf					2018-06-22 22:48:33+00:00																									owl:Class
MONDO:0020072	biolink:NamedThing	childhood-onset epilepsy syndrome	A epilepsy syndrome that occurs during childhood.	mondoexuq1wtf	pediatric epilepsy syndrome|epilepsy syndrome of childhood|childhood epilepsy syndrome					This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						UMLS:CN206976|Orphanet:98259|ICD10:G40.4														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0015843	biolink:NamedThing	uterine hypoplasia		mondoexuq1wtf												ICD10:Q51.8|MedDRA:10063146|Orphanet:180139																		owl:Class
MONDO:0015829	biolink:NamedThing	non-syndromic uterovaginal malformation	A uterovaginal malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated uterovaginal malformation|nonsyndromic uterovaginal malformation											Orphanet:180065																		owl:Class
MONDO:0024565	biolink:NamedThing	ectodermal dysplasia-syndactyly syndrome 1	Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.	mondoexuq1wtf	EDSS1|NECTIN4 ectodermal dysplasia-syndactyly syndrome|ectodermal dysplasia-syndactyly syndrome 1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4											UMLS:C3150807|OMIM:613573																		owl:Class
MONDO:0013311	biolink:NamedThing	ectodermal dysplasia-syndactyly syndrome	Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	mondoexuq1wtf	ectodermal dysplasia-syndactyly syndrome type 1|EDSS1|EDSS|ectodermal dysplasia-syndactyly syndrome 1											OMIMPS:613573|UMLS:CN228599|DC:0000645|ICD10:Q82.8|Orphanet:247820																		owl:Class
MONDO:0019164	biolink:NamedThing	6q terminal deletion syndrome	6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.	mondoexuq1wtf												Orphanet:75857|ICD10:Q93.5|UMLS:C4304514|UMLS:CN205719|SCTID:719666002																		owl:Class
MONDO:0016644	biolink:NamedThing	logopenic progressive aphasia	Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.	mondoexuq1wtf	LPA|Logopenic variant PPA|Logopenic primary progressive aphasia											SCTID:716380002|UMLS:C4049711|Orphanet:250831|ICD10:G31.0|GARD:0010791														https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia				owl:Class
MONDO:0019806	biolink:NamedThing	primary progressive aphasia	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).	mondoexuq1wtf	PPA|Mesulam syndrome|primary progressive aphasia syndrome											GARD:0008541|EFO:0009053|UMLS:C0282513|ICD10:G31.0|Orphanet:95432|NCIT:C85024|MESH:D018888																		owl:Class
MONDO:0012552	biolink:NamedThing	multiple endocrine neoplasia type 4	Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.	mondoexuq1wtf	multiple endocrine neoplasia, type IV|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia, type 4|MEN4											DOID:0080137|Orphanet:276152|ICD10:D44.8|MESH:C567059|OMIM:610755|UMLS:C4274947|SCTID:715907003|UMLS:C1970712|NCIT:C157449																		owl:Class
MONDO:0017169	biolink:NamedThing	multiple endocrine neoplasia	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.	mondoexuq1wtf	men|men syndromes|multiple endocrine neoplasia syndrome|multiple endocrine neoplasia syndrome(s)|multiple endocrine adenomatosis|multiple endocrine neoplasia|men syndrome											MedDRA:10061299|ICDO:8360/1|NCIT:C6432|SCTID:46724008|DC:0000291|Orphanet:276161|ICD10:D44.8|ICD9:258.0|UMLS:C0027662|OMIMPS:131100																		owl:Class
MONDO:0045020	biolink:NamedThing	glycine metabolism disease	A disease that has its basis in the disruption of glycine metabolic process.	mondoexuq1wtf	glycine metabolic process disease|disorder of glycine metabolism|glycine metabolism disease|disorder of glycine metabolic process											UMLS:C0268558|SCTID:83076007																		owl:Class
MONDO:0037871	biolink:NamedThing	amino acid metabolism disease	A disease that has its basis in the disruption of cellular amino acid metabolic process.	mondoexuq1wtf	amino acidopathy|disorder of amino acid metabolism|amino acid disorder|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|cellular amino acid metabolic process disease											SCTID:44779003|NCIT:C97090																		owl:Class
MONDO:0032799	biolink:NamedThing	mitochondrial DNA depletion syndrome 16 (hepatic type)		mondoexuq1wtf	MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)|MTDPS16											OMIM:618528																		owl:Class
MONDO:0018158	biolink:NamedThing	mitochondrial DNA depletion syndrome	The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.	mondoexuq1wtf	mtDNA depletion syndrome											DOID:0070329|ICD10:G71.3|DC:0000284|UMLS:CN239350|MedDRA:10059396|Orphanet:35698|OMIMPS:603041																		owl:Class
MONDO:0014441	biolink:NamedThing	Bardet-Biedl syndrome 13	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.	mondoexuq1wtf	Bardet-Biedl syndrome type 13|Bardet-Biedl syndrome caused by mutation in MKS1|BBS13|Bardet-Biedl syndrome 13|MKS1 Bardet-Biedl syndrome											MESH:C567140|ICD10:Q87.89|OMIM:615990|UMLS:C2673873|DOID:0110135																		owl:Class
MONDO:0015229	biolink:NamedThing	Bardet-Biedl syndrome	Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems	mondoexuq1wtf	BBS											ICD10:Q87.89|MedDRA:10056715|OMIMPS:209900|SCTID:5619004|NCIT:C118632|Orphanet:110|UMLS:C0752166|MESH:D020788|GARD:0006866|ICD9:759.89|ICD10:Q87.8|DOID:1935																		owl:Class
MONDO:0009256	biolink:NamedThing	galactorrhea	Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.	mondoexuq1wtf	galactorrhea|galactorrhea (disease)		galactorrhea (disease)									SCTID:78622004|MESH:D005687|ICD9:611.6|OMIM:230300|HP:0100829|NCIT:C113343																		owl:Class
MONDO:0005905	biolink:NamedThing	periodic limb movement disorder	Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)	mondoexuq1wtf	nocturnal myoclonus											UMLS:C0751774|DOID:9207|EFO:0007428|ICD9:327.51|SCTID:418763003|ICD10:G47.61																		owl:Class
MONDO:0003406	biolink:NamedThing	sleep-wake disorder	Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.	mondoexuq1wtf	sleep-related neurogenic Tachypneas|sleeper syndromes, long|phenotype, short sleep|syndromes, short sleeper|long sleeper syndromes|short sleep phenotypes|disorders, sleep|wake disorder, sleep|short sleeper syndrome|sleep phenotypes, short|sleep related neurogenic tachypnea|long sleeper syndrome|disorder of sleep-wake schedule|sleeper syndromes, short|circadian dysregulation|sleep disorder|Tachypneas, sleep-related neurogenic|disorders of the sleep-wake schedule|disorder of sleep-wake cycle|non-organic sleep disorder|disorder, sleep|short sleeper syndromes|sleeper syndrome, short|neurogenic tachypnea, sleep-related|short sleep phenotype|Subwakefullness syndromes|syndrome, short sleeper|sleep wake disorder|phenotypes, short sleep|wake disorders, sleep|syndrome, Subwakefullness|disorder, sleep wake|sleeper syndrome, long|neurogenic Tachypneas, sleep-related|disturbed nyctohemeral rhythm|disorders, sleep wake|syndromes, long sleeper|sleep disorders|syndrome, long sleeper|syndromes, Subwakefullness|sleep-related neurogenic tachypnea|Subwakefullness syndrome|tachypnea, sleep-related neurogenic											ICD9:307.49|ICD9:307.4|DOID:535|ICD9:307.40|MESH:D012893|ICD10:G47|EFO:0008568|SCTID:39898005																		owl:Class
MONDO:0016506	biolink:NamedThing	ectopic aldosterone-producing tumor	Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.	mondoexuq1wtf	Extra-adrenal aldosterone-producing tumor											ICD10:E26.8|UMLS:CN201515|Orphanet:231632																		owl:Class
MONDO:0001422	biolink:NamedThing	primary aldosteronism	An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.	mondoexuq1wtf	primary aldosteronism|Conn syndrome|Conn's syndrome|primary hyperaldosteronism					Editor note: DOID class refers to adenoma-caused Conn syndrome						DOID:12028|NCIT:C34510|SCTID:190507007|ICD10:E26.0|ICD10:E26.01|COHD:434000|ICD9:255.12																		owl:Class
MONDO:0002322	biolink:NamedThing	angiodysplasia	Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.	mondoexuq1wtf	angiodysplasia of stomach and duodenum with hemorrhage											UMLS:C0085411|DOID:2494|ICD9:537.83|SCTID:90858003|MESH:D016888																		owl:Class
MONDO:0022608	biolink:NamedThing	brittle bone syndrome lethal type		mondoexuq1wtf												GARD:0001018														https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type				owl:Class
MONDO:0012807	biolink:NamedThing	epidermolysis bullosa simplex with pyloric atresia	Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.	mondoexuq1wtf	EBS-PA|EBSPA|epidermolysis bullosa simplex with pyloric atresia|EBS with pyloric atresia											ICD10:Q81.0|UMLS:C2677349|SCTID:716701004|MESH:C567408|OMIM:612138|Orphanet:158684																		owl:Class
MONDO:0015551	biolink:NamedThing	basal epidermolysis bullosa simplex	A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes.	mondoexuq1wtf	epidermolysis bullosa simplex of stratum basale of epidermis|stratum basale of epidermis epidermolysis bullosa simplex											SCTID:723163000|UMLS:C4302031|ICD10:Q81.0|Orphanet:158665																		owl:Class
MONDO:0100273	biolink:NamedThing	glyceronephosphate O-acyltransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.	mondoexuq1wtf	glyceronephosphate O-acyltransferase deficiency|GNPAT deficiency							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0017986	biolink:NamedThing	disorder of plasmalogens biosynthesis		mondoexuq1wtf	disorder of plasmalogens biosynthesis											Orphanet:3276|UMLS:CN237437																		owl:Class
MONDO:0019621	biolink:NamedThing	chronic pneumonitis of infancy	Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).	mondoexuq1wtf	CPI											UMLS:CN206472|UMLS:C3872848|Orphanet:91359|ICD10:J84.0|SCTID:708026002																		owl:Class
MONDO:0017019	biolink:NamedThing	interstitial lung disease specific to infancy		mondoexuq1wtf	ILD specific to infancy											UMLS:CN202332|Orphanet:264694																		owl:Class
MONDO:0017139	biolink:NamedThing	oromandibular-limb hypogenesis syndrome	Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	mondoexuq1wtf	oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome											Orphanet:2749|ICD10:Q87.5|UMLS:CN202556|GARD:0004116																		owl:Class
MONDO:0011875	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 11	Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene.	mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, type 11|epilepsy, juvenile absence, susceptibility to, 2|epilepsy, idiopathic generalized, susceptibility to, 11|epilepsy, juvenile myoclonic, susceptibility to, 8|CLCN2 generalised epilepsy|susceptibility to idiopathic generalized epilepsy 11|generalised epilepsy caused by mutation in CLCN2|EIG11											DOID:0111312|OMIM:607628																		owl:Class
MONDO:0009696	biolink:NamedThing	juvenile myoclonic epilepsy	Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).	mondoexuq1wtf	myoclonic epilepsy, juvenile, 1|JME|epilepsy, myoclonic juvenile|juvenile myoclonus epilepsy|EJM|Janz syndrome|myoclonic epilepsy, juvenile|myoclonic epilepsy, juvenile, susceptibility to, 1|Petit Mal, impulsive											ICD9:345.10|DOID:4890|UMLS:C0270853|ICD10:G40.3|EFO:0006572|NCIT:C84796|SCTID:6204001|OMIMPS:254770|MESH:D020190|Orphanet:307|MedDRA:10071082|GARD:0006808														https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy				owl:Class
MONDO:0009533	biolink:NamedThing	Dahlberg-Borer-Newcomer syndrome	Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.	mondoexuq1wtf	Dahlberg Borer Newcomer syndrome|lymphedema hypoparathyroidism syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|Dahlberg syndrome|hypoparathyroidism lymphedema syndrome											UMLS:C1855477|OMIM:247410|SCTID:721083007|ICD10:Q87.8|MESH:C535769|GARD:0000237|Orphanet:1563														https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome				owl:Class
MONDO:0019313	biolink:NamedThing	hereditary lymphedema	Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.	mondoexuq1wtf	hereditary lymphedema type I|congenital hereditary lymphedema|early onset lymphedema|Nonne’s syndrome|Nonne-Milroy disease|Milroy's disease|Nonne-Milroy lymphedema|congenital primary lymphedema|hereditary lymphedema 1|lymphedema, hereditary|hereditary lymphedema|Nonne-Milroy syndrome											ICD9:757.0|SCTID:399889006|Orphanet:79452|SCTID:254199006|DOID:0050580|ICD10:Q82.0|GARD:0007220|OMIMPS:153100																		owl:Class
MONDO:0016032	biolink:NamedThing	femoral agenesis/hypoplasia	Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.	mondoexuq1wtf	congenital short femur|femoral intercalary meromelia											GARD:0001503|Orphanet:1987|SCTID:93255008|ICD9:755.34|ICD10:Q72.4																		owl:Class
MONDO:0009666	biolink:NamedThing	holocarboxylase synthetase deficiency	Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.	mondoexuq1wtf	early-onset multiple carboxylase deficiency|multiple carboxylase deficiency - neonatal onset|biotin-(propionyl-CoA-carboxylase) ligase deficiency|multiple carboxylase deficiency, early onset|holocarboxylase synthase deficiency|neonatal multiple carboxylase deficiency|holocarboxylase synthetase deficiency|HLCS deficiency|multiple carboxylase deficiency, neonatal form|multiple carboxylase deficiency					May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200						MESH:D028922|OMIM:253270|DOID:859|ICD9:270.8|Orphanet:79242|NCIT:C98842|ICD10:D81.818|UMLS:C0268581|GARD:0002721|SCTID:360369003|SCTID:15307001|ICD10:E53.8														https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency				owl:Class
MONDO:0100033	biolink:NamedThing	metabolic epilepsy	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.	mondoexuq1wtf					2018-06-23 18:55:00+00:00																									owl:Class
MONDO:0019418	biolink:NamedThing	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.	mondoexuq1wtf												UMLS:CN206173|ICD10:Q87.8|Orphanet:85319																		owl:Class
MONDO:0002377	biolink:NamedThing	breast intracanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.	mondoexuq1wtf	breast intracanalicular fibroadenoma|intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma of the breast|intracanalicular fibroadenoma|intracanalicular breast fibroadenoma											DOID:2656|NCIT:C4271|UMLS:C0334496|ICDO:9011/0																		owl:Class
MONDO:0002056	biolink:NamedThing	breast fibroadenoma	A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.	mondoexuq1wtf	Complex fibroadenoma of breast|fibroadenoma|juvenile fibroadenoma of breast|fibroadenoma of the breast|juvenile fibroadenoma|juvenile fibroadenoma (morphologic abnormality)|fibroadenoma, benign|FA|breast fibroadenoma|fibroadenoma of breast|cellular fibroadenoma											ICDO:9010/0|DOID:1618|UMLS:C0178421|ICD10:D24|ONCOTREE:FA|MESH:D018226|EFO:1000254|UMLS:C0206650|NCIT:C3744|UMLS:C0346158|SCTID:254847007																		owl:Class
MONDO:0016060	biolink:NamedThing	laryngotracheoesophageal cleft	A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.	mondoexuq1wtf	LTEC|laryngo-tracheo-esophageal cleft|Larnygeotracheoesophageal cleft|laryngeal cleft|congenital cleft larynx|laryngo-tracheo-esophageal diastema|tracheal cleft|LC											ICD10:Q32.1|GARD:0003188|Orphanet:2004|MESH:C537875|NCIT:C98622|SCTID:232461002																		owl:Class
MONDO:0001420	biolink:NamedThing	trigeminal nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.	mondoexuq1wtf	tumor of trigeminal nerve|neoplasm of fifth cranial nerve|trigeminal nerve neoplasms|neoplasm of trigeminal nerve|cranial nerve V neoplasms|trigeminal nerve tumors|tumor of fifth cranial nerve|trigeminal nerve neoplasm|neoplasms, cranial nerve V|fifth cranial nerve tumor|fifth cranial nerve neoplasm|tumors, cranial nerve V|neoplasm of the fifth cranial nerve|neoplasm of the trigeminal nerve|trigeminal nerve tumor|tumor of the trigeminal nerve|cranial nerve V tumors|trigeminal nerve neoplasm (disease)|tumor of the fifth cranial nerve											DOID:1201|NCIT:C5122|SCTID:126971002|UMLS:C1263897|ICD9:239.7																		owl:Class
MONDO:0003543	biolink:NamedThing	trigeminal nerve disease	A disease involving the trigeminal nerve.	mondoexuq1wtf	disease or disorder of trigeminal nerve|disorders of the vth cranial nerve|disease of trigeminal nerve|trigeminal nerve disorder|disorder of the fifth cranial nerve|trigeminal nerve disease|disorders of the fifth nerve|trigeminal nerve disease or disorder|disorder of trigeminal nerve											DOID:561|NCIT:C26952|MESH:D020433|SCTID:64309007|ICD9:350.8																		owl:Class
MONDO:0041752	biolink:NamedThing	paucibacillary leprosy	A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.	mondoexuq1wtf	paucibacillary leprosy|tuberculoid leprosy											SCTID:416483009																		owl:Class
MONDO:0005124	biolink:NamedThing	leprosy	Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.	mondoexuq1wtf	Mycobacterium leprae caused disease or disorder|Hansen's disease|Hansen disease|Mycobacterium leprae infectious disease|Mycobacterium leprae disease or disorder											MedDRA:10024229|ICD10:A30.1|ICD10:A30.3|EFO:0001054|SCTID:81004002|ICD9:030|COHD:432821|ICD10:A30|DOID:1024|Orphanet:548|ICD10:A30.0|ICD10:A30.8|ICD9:030.8|NCIT:C84824|ICD9:030.9|ICD10:A30.4|ICD10:A30.9|ICD10:A30.5|ICD10:A30.2|GARD:0006886|MESH:D007918|UMLS:C0023343																		owl:Class
MONDO:0023224	biolink:NamedThing	inherited reflex epilepsy	An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary reflex epilepsy											GARD:0002455																		owl:Class
MONDO:0018904	biolink:NamedThing	primary membranoproliferative glomerulonephritis	Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes.	mondoexuq1wtf	Mesangiocapillary glomerulonephritis|membranoproliferative glomerulonephritis|MPGN											UMLS:C0017662|GARD:0011982|Orphanet:54370|MedDRA:10018370|SCTID:80321008|COHD:433257|ICD10:N00.5|ICD9:583.2|NCIT:C34644																		owl:Class
MONDO:0015163	biolink:NamedThing	primary glomerular disease		mondoexuq1wtf												Orphanet:102373|UMLS:CN197503																		owl:Class
MONDO:0005945	biolink:NamedThing	rhinoscleroma	A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.	mondoexuq1wtf												EFO:0007470|UMLS:C0035468|MESH:D012226|DOID:11336|SCTID:72409005|ICD9:040.1																		owl:Class
MONDO:0001468	biolink:NamedThing	synovial plica syndrome		mondoexuq1wtf	synovial plica of knee|plica syndrome											UMLS:C0410485|ICD10:M67.5|SCTID:240171001|DOID:12225|ICD9:727.83|ICD9:727.9																		owl:Class
MONDO:0056799	biolink:NamedThing	synovium disease	A disease or disorder that involves the layer of synovial tissue.	mondoexuq1wtf	disorder of synovium|layer of synovial tissue disease or disorder|disorder of layer of synovial tissue|disease of layer of synovial tissue|layer of synovial tissue disease|disease or disorder of layer of synovial tissue											UMLS:C0263945|ICD9:727.89|ICD9:727.9|SCTID:3519007																		owl:Class
MONDO:0010737	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, X-linked	X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.	mondoexuq1wtf	X-linked spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia tarda, X-linked|SEDT|X linked spondyloepiphyseal dysplasia tarda|Sed tarda, X-linked|SED|spondyloepiphyseal dysplasia tarda X-linked|spondyloepiphyseal dysplasia, late											OMIM:313400|GARD:0004985														https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked				owl:Class
MONDO:0019667	biolink:NamedThing	spondyloepiphyseal dysplasia tarda	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.	mondoexuq1wtf												Orphanet:93284|DOID:0080362|ICD9:756.9|SCTID:51952004|ICD10:Q77.7																		owl:Class
MONDO:0003421	biolink:NamedThing	mixed cell adenoma	An adenoma characterized by the presence of a mixed epithelial cell population.	mondoexuq1wtf	mixed cell adenoma											ICDO:8323/0|DOID:5385|NCIT:C4157|UMLS:C0334323																		owl:Class
MONDO:0021043	biolink:NamedThing	mixed neoplasm	A neoplasm composed of at least two distinct cellular populations.	mondoexuq1wtf	mixed neoplasm|mixed tumor											ICDO:8940/1|NCIT:C6930|MESH:D018193																		owl:Class
MONDO:0004604	biolink:NamedThing	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)	mondoexuq1wtf	lymphocyte rich Hodgkin's lymphoma|lymphocyte rich classical Hodgkin lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte-rich Classic Hodgkin lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|LRCHL|lymphocyte rich classical Hodgkin's disease|Hodgkin's disease, lymphocyte predominance [obs]|Hodgkin's disease, lymphocyte predominance|lymphocyte rich Hodgkin lymphoma|lymphocyte-rich classical Hodgkin's lymphoma|classic Hodgkin lymphoma, lymphocyte-rich type|Hodgkin lymphoma, lymphocyte-rich|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte rich Hodgkin's disease											MedDRA:10020231|SCTID:118607005|ONCOTREE:LRCHL|ICD10:C81.4|NCIT:C6913|Orphanet:98845|ICDO:9651/3|ICD9:201.4|DOID:8543																		owl:Class
MONDO:0009348	biolink:NamedThing	classic Hodgkin lymphoma	Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.	mondoexuq1wtf	Hodgkin disease|lymphoma, Hodgkin, classic|classic Hodgkin disease|classical Hodgkin's lymphoma|classical Hodgkin lymphoma|Chl											UMLS:CN204952|ICD10:C81.2|ONCOTREE:CHL|NCIT:C7164|ICD10:C81.1|ICD10:C81.3|ICD10:C81.4|ICD10:C81.7|ICD10:C81.0|Orphanet:391|OMIM:236000|ICD10:C81.9																		owl:Class
MONDO:0012316	biolink:NamedThing	Majeed syndrome	Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.	mondoexuq1wtf	MJDS|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|chronic recurrent multifocal osteomyelitis, congenital|Majeed syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MAJEED syndrome|CDA and CRMO|dyserythropoietic anemia, and neutrophilic dermatosis											SCTID:703540008|NCIT:C119058|MedDRA:10072223|MESH:C537839|ICD9:759.89|GARD:0010088|OMIM:609628|UMLS:C1864997|Orphanet:77297														https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome				owl:Class
MONDO:0017369	biolink:NamedThing	autoinflammatory syndrome with immune deficiency		mondoexuq1wtf												Orphanet:290839|UMLS:CN203042																		owl:Class
MONDO:0024912	biolink:NamedThing	cat disease	Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.	mondoexuq1wtf	Feline diseases|cat disease|diseases, Cat|disease, Feline|Feline disease|diseases, Feline|disease, Cat											UMLS:C0007350|MESH:D002371																		owl:Class
MONDO:0009748	biolink:NamedThing	hereditary sensory and autonomic neuropathy with spastic paraplegia	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.	mondoexuq1wtf	HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive											UMLS:C4303565|UMLS:C1850395|SCTID:717827000|ICD10:G60.8|MESH:C564948|Orphanet:139578|OMIM:256840																		owl:Class
MONDO:0015366	biolink:NamedThing	autosomal recessive hereditary sensory and autonomic neuropathy	Autosomal recessive form of hereditary sensory and autonomic neuropathy.	mondoexuq1wtf	hereditary sensory and autonomic neuropathy, autosomal recessive											UMLS:CN228933|ICD10:G60.8|Orphanet:140477																		owl:Class
MONDO:0004452	biolink:NamedThing	childhood central nervous system germinoma	A germinoma arising from the central nervous system during childhood.	mondoexuq1wtf	pediatric central nervous system germinoma|central nervous system germinoma of childhood|Central nervous system germinoma											DOID:8078|UMLS:C1332953|NCIT:C27406																		owl:Class
MONDO:0004479	biolink:NamedThing	malignant childhood germ cell neoplasm	A malignant germ cell tumor that occurs during childhood.	mondoexuq1wtf	malignant childhood germ cell neoplasm|malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant pediatric germ cell tumor											NCIT:C6541|DOID:8149|UMLS:C1334574																		owl:Class
MONDO:0005799	biolink:NamedThing	hookworm infectious disease	Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.	mondoexuq1wtf	infection, hookworm|infections, hookworm|Bunostomiases|Bunostomiasis|hookworm infection					Editor note: TODO						EFO:0007314																		owl:Class
MONDO:0005550	biolink:NamedThing	infectious disease	A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.	mondoexuq1wtf	infectious disorder|disease by infectious agent|infectious disease|communicable disease|clinical infection|infectious diseases and manifestations|infection|infectious|transmissible disease					Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself.						ICD10:A00.B99|ICD9:079.0|EFO:0005741|ICD9:136.8|DOID:0050117|NCIT:C26726|SCTID:40733004|MESH:D003141|IDO:0000436|ICD9:136.9																		owl:Class
MONDO:0001041	biolink:NamedThing	dentin caries	A dental caries that involves the dentine.	mondoexuq1wtf	dentine dental caries|dental caries of dentine|dental caries extending into dentine|compound dental caries											ICD10:K02.1|ICD9:521.02|UMLS:C0266846|SCTID:442551007|DOID:10461																		owl:Class
MONDO:0005276	biolink:NamedThing	dental caries	The decay of a tooth, in which it becomes softened, discolored, and/or porous.	mondoexuq1wtf	dental caries of smooth surface|dental caries pit and fissure|dental caries extending into pulp											SCTID:80967001|ICD9:521.07|ICD10:K02.9|ICD10:K02.6|DOID:216|MESH:D003731|EFO:0003819|ICD9:521.00|UMLS:C0011334|ICD10:K02|COHD:133228|ICD9:521.06|ICD9:521.0																		owl:Class
MONDO:0013336	biolink:NamedThing	chromosome 19p13.13 deletion syndrome	19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).	mondoexuq1wtf	chromosome 19p13.13 deletion syndrome|monosomy 19p13.13|Del(19)(p13.13)|19p13.13 microdeletion syndrome|chromosome 19P13.13 Duplication syndrome											Orphanet:357001|OMIM:613638|SCTID:764440006|ICD10:Q93.5|DOID:0060426|UMLS:C3150894|UMLS:CN204595																		owl:Class
MONDO:0016497	biolink:NamedThing	paraparetic variant of Guillain-Barre syndrome	Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.	mondoexuq1wtf	paraparetic variant of Guillain-Barré syndrome|paraparetic variant of GBS											ICD10:G61.0|UMLS:CN201500|Orphanet:231445																		owl:Class
MONDO:0016495	biolink:NamedThing	functional variant of Guillain-Barre syndrome		mondoexuq1wtf	functional variant of GBS|functional variant of Guillain-Barré syndrome											ICD10:G61.0|UMLS:CN201497|Orphanet:231419																		owl:Class
MONDO:0044652	biolink:NamedThing	optic atrophy-peripheral neuropathy-developmental delay syndrome		mondoexuq1wtf	Harel-Yoon syndrome											Orphanet:496790																		owl:Class
MONDO:0018609	biolink:NamedThing	syndromic hereditary optic neuropathy	A hereditary optic neuropathy that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy											Orphanet:441434|UMLS:CN237645																		owl:Class
MONDO:0100135	biolink:NamedThing	Dravet syndrome	Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.	mondoexuq1wtf	DS|SME|Dravet syndrome|myoclonic epilepsy, severe, of infancy					This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745		http://orcid.org/0000-0001-5208-3432				SCTID:230437002|UMLS:C0751122|GARD:0010430|DOID:0060171|ICD9:345.10|NCIT:C116573														https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome				owl:Class
MONDO:0009634	biolink:NamedThing	microtia with meatal atresia and conductive deafness		mondoexuq1wtf	microtia with meatal atresia and conductive deafness|Gupta Patton syndrome|familial microtia and meatal atresia|microtia meatal atresia deafness dominant|familial microtia with meatal atresia and conductive deafness|microtia, meatal atresia and conductive deafness											GARD:0003657|UMLS:C2931502|MESH:C537469|GARD:0000357|OMIM:251800																		owl:Class
MONDO:0000118	biolink:NamedThing	reticulate pigment disorder		mondoexuq1wtf	reticulate pigment disorders											OMIMPS:179850|DC:0000504																		owl:Class
MONDO:0006600	biolink:NamedThing	pigmentation disease		mondoexuq1wtf	disorder of pigmentation					This class covers pigmentation disorders of the skin, as well as those affecting the eyes						SCTID:414032001																		owl:Class
MONDO:0001128	biolink:NamedThing	nasal cavity cancer	A malignant neoplasm involving the nasal cavity	mondoexuq1wtf	cancer of nasal cavity|malignant tumor of nasal cavity|malignant nasal cavity neoplasm|malignant neoplasm of nasal cavity|malignant nasal cavity tumor|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant neoplasm of nasal cavities|malignant tumor of the nasal cavity											ICD9:160.0|NCIT:C4918|COHD:4177107|ICD10:C30.0|DOID:10811|UMLS:C0728864|SCTID:363422006																		owl:Class
MONDO:0000649	biolink:NamedThing	sensory system cancer	A malignant neoplasm involving the sensory system	mondoexuq1wtf	cancer of sensory system|malignant sensory system neoplasm|malignant neoplasm of sensory system|sensory system cancer											DOID:0060116																		owl:Class
MONDO:0002625	biolink:NamedThing	Ewing sarcoma of bone	A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.	mondoexuq1wtf	bone tissue Ewing sarcoma|Ewing's sarcoma of bone|skeletal Ewing's tumor|bone localized Ewing's sarcoma|localized skeletal Ewing's sarcoma|bone localized Ewing sarcoma|skeletal Ewing's sarcoma|bone Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|osseous Ewing's sarcoma|bone Ewing sarcoma|osseous Ewing's tumor|Ewing sarcoma of bone|Ewing's sarcoma, osseous											NCIT:C4835|UMLS:C0585474|ICD9:170.9|DOID:3368|SCTID:307608006																		owl:Class
MONDO:0021123	biolink:NamedThing	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone	A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	mondoexuq1wtf	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor											NCIT:C35871|UMLS:C1333481																		owl:Class
MONDO:0012192	biolink:NamedThing	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.	mondoexuq1wtf	pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis|paca											Orphanet:65288|OMIM:609069|UMLS:C1836780|MESH:C563796																		owl:Class
MONDO:0000814	biolink:NamedThing	B-cell adult acute lymphocytic leukemia	An acute B-lymphoblastic leukemia occurring in adults.	mondoexuq1wtf	adult precursor B-lymphoblastic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|B cell adult ALL|B cell adult acute lymphocytic leukemia|B acute lymphoblastic leukemia|B cell adult acute lymphoblastic leukemia|adult B cell ALL|adult B-cell lymphocytic leukemia|B-cell adult ALL|adult B-cell ALL|adult B-cell childhood acute lymphoblastic leukemia|adult B-cell acute lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|adult B-cell acute lymphocytic leukemia|adult B cell acute lymphoblastic leukemia|B-cell adult acute lymphoblastic leukemia|adult B cell acute lymphocytic leukemia											UMLS:C0279593|NCIT:C9143|DOID:0060592|EFO:1001935																		owl:Class
MONDO:0003660	biolink:NamedThing	adult lymphoma	A lymphoma that occurs in an adult.	mondoexuq1wtf	lymphoma|adult lymphoma|lymphoma of adults											UMLS:C1332206|DOID:5825|NCIT:C7587																		owl:Class
MONDO:0003185	biolink:NamedThing	adenoid cystic breast carcinoma	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	mondoexuq1wtf	mammary adenocystic carcinoma|adenocystic carcinoma of the breast|mammary adenoid cystic carcinoma|adenocystic carcinoma of breast|adenoid cystic carcinoma of the breast|adenoid cystic carcinoma of breast|adenocystic breast carcinoma|adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenoid cystic breast carcinoma											ONCOTREE:ACBC|EFO:1000071|UMLS:C1332167|NCIT:C5130|DOID:4877																		owl:Class
MONDO:0006256	biolink:NamedThing	invasive breast carcinoma	A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.	mondoexuq1wtf	invasive carcinoma of breast|infiltrating carcinoma of breast|invasive carcinoma of the breast|BRCA|invasive breast carcinoma|infiltrating carcinoma of the breast|invasive breast cancer|invasive mammary carcinoma|infiltrating breast cancer|infiltrating breast carcinoma											UMLS:C0853879|SCTID:713609000|ONCOTREE:BRCA|EFO:1000307|NCIT:C9245																		owl:Class
MONDO:0010379	biolink:NamedThing	Brunner syndrome	Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.	mondoexuq1wtf	BRNRS|antisocial behavior, susceptibility to|Brunner syndrome|monoamine oxidase A deficiency											DOID:0060693|UMLS:C0796275|OMIM:300615|Orphanet:3057|SCTID:718210003|ICD10:E70.8|MESH:C563156|GARD:0003531																		owl:Class
MONDO:0019219	biolink:NamedThing	inborn disorder of neurotransmitter metabolism and transport		mondoexuq1wtf	disorder of neurotransmitter metabolism and transport											Orphanet:79169|UMLS:CN227586																		owl:Class
MONDO:0021640	biolink:NamedThing	grade III glioma	A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.	mondoexuq1wtf	WHO grade III glioma|anaplastic glioma											NCIT:C127816|UMLS:C4287997																		owl:Class
MONDO:0100342	biolink:NamedThing	malignant glioma	A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.	mondoexuq1wtf	malignant glial neoplasm|glial cell tumor|neuroglial tumor|high grade glioma|malignant glial tumor|malignant neuroglial neoplasm|malignant glioma|malignant neuroglial tumor|glioma, malignant|high-grade glioma|glioma							http://orcid.org/0000-0001-5208-3432				KEGG:05214|MedDRA:10018338|DOID:3070|ICDO:9380/3|UMLS:C0555198|NCIT:C4822																		owl:Class
MONDO:0011119	biolink:NamedThing	iridogoniodysgenesis		mondoexuq1wtf	IRID					Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2						DOID:0050786|Orphanet:98634																		owl:Class
MONDO:0020217	biolink:NamedThing	secondary dysgenetic glaucoma associated with neural crest cell migration anomaly		mondoexuq1wtf	glaucoma associated with neural crest cell migration anomaly											Orphanet:98632																		owl:Class
MONDO:0012048	biolink:NamedThing	endogenous depression	Depression which is considered strictly biological.	mondoexuq1wtf	clinical depression|major depressive disorder|unipolar depression|MDD											NCIT:C34532|DOID:1595|SCTID:300706003																		owl:Class
MONDO:0002009	biolink:NamedThing	major depressive disorder	An episode of depression lasting two or more weeks without an intervening episode of mania.	mondoexuq1wtf	unipolar depression|recurrent major depression|major depression|major depressive disorder|single major depressive episode											ICD10:F32.9|SCTID:370143000|ICD10:F33|ICD9:296.30|MESH:D003865|ICD10:F32|NCIT:C35094|ICD9:296.20|EFO:0003761|DOID:1470|OMIM:608516|ICD9:296.2|ICD9:296.3|ICD10:F33.9|MFOMD:0000143																		owl:Class
MONDO:0002691	biolink:NamedThing	liver cancer	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	primary malignant liver neoplasm|resectable malignant neoplasm of the liver|primary liver cancer|liver cancer|malignant tumor of liver|malignant neoplasm of liver, not specified as primary or secondary|cancer of liver|primary malignant neoplasm of liver|Resectable malignant neoplasm of liver|hepatic cancer|primary tumor of the liver|malignant neoplasm of liver|primary cancer of liver|hepatic neoplasm|Ca liver - primary|malignant neoplasm of liver, primary|malignant liver neoplasm|non-resectable primary hepatic malignant neoplasm|ca liver - primary|malignant hepato-biliary neoplasm											DOID:3571|ICD10:C22.0|UMLS:C0854795|UMLS:C0345904|ICD10:C22.9|NCIT:C34803|UMLS:C0024620|SCTID:93870000|ICD9:155.2|ICD9:155.0|GARD:0006608																		owl:Class
MONDO:0004721	biolink:NamedThing	liver neoplasm	A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma.	mondoexuq1wtf	liver tumor|epithelial hepatic and intrahepatic bile duct neoplasm|liver neoplasm (disease)|liver and intrahepatic bile duct epithelial neoplasm|neoplasm of liver|tumor of liver					Editor note: consider merging with liver and intrahepatic bile duct neoplasm						DOID:916|SCTID:126851005|NCIT:C7106|EFO:1001513|ONCOTREE:LIVER|UMLS:C0023903																		owl:Class
MONDO:0021454	biolink:NamedThing	benign neoplasm of eye	A benign neoplasm that involves the eye.	mondoexuq1wtf	benign neoplasm of the eye|benign eye neoplasm|benign ocular neoplasm|benign ocular tumor|benign eye tumor|eye benign neoplasm|benign tumor of the eye|benign tumor of eye											SCTID:92097004|UMLS:C0496897|ICD9:224.9|ICD9:224.8|ICD9:224.0|NCIT:C4780																		owl:Class
MONDO:0021220	biolink:NamedThing	eye neoplasm	A neoplasm (disease) that involves the eye.	mondoexuq1wtf	eye tumor|neoplasm of eye|eye neoplasm (disease)|tumor of eye|ocular neoplasm|ocular tumor|tumor of the eye|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye tumor|neoplasm of the eye|tumor of eyeball of camera-type eye|eyeball of camera-type eye neoplasm											ONCOTREE:EYE|NCIT:C3030																		owl:Class
MONDO:0007788	biolink:NamedThing	hypertriglyceridemia, familial	An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease)											SCTID:34528009|OMIM:145750																		owl:Class
MONDO:0005347	biolink:NamedThing	hypertriglyceridemia	A laboratory test result indicating elevated triglyceride concentration in the blood.	mondoexuq1wtf	hypertriglyceridemia|hypertriglyceridemia (disease)		hypertriglyceridemia (disease)									EFO:0004211|HP:0002155|SCTID:302870006|UMLS:C0020557|MESH:D015228																		owl:Class
MONDO:0005046	biolink:NamedThing	immune system disease	A disorder resulting from an abnormality in the immune system.	mondoexuq1wtf	disease of immune system|immune disorder|immune system disease or disorder|disease or disorder of immune system|immune system disorder|disorder of immune system|immune disease|immune dysfunction											SCTID:414029004|ICD9:279|ICD9:279.4|ICD9:279.19|ICD10:D89.9|ICD9:279.49|EFO:0000540|ICD9:279.9|ICD9:279.1|MESH:D007154|DOID:2914|NCIT:C3507|ICD9:279.8|ICD9:279.10																		owl:Class
MONDO:0015424	biolink:NamedThing	lethal chondrodysplasia, Moerman type		mondoexuq1wtf	lethal chondrodysplasia Moerman type|Moerman-Vandenberghe-Fryns syndrome											GARD:0003225|UMLS:CN199519|Orphanet:1420|ICD10:Q77.8														https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type				owl:Class
MONDO:0019718	biolink:NamedThing	lethal chondrodysplasia		mondoexuq1wtf												Orphanet:93465																		owl:Class
MONDO:0008228	biolink:NamedThing	pernicious anemia	Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.	mondoexuq1wtf	Addison's anaemia|Addison anaemia|Biermer's anemia|anemia pernicious|pernicious anemia|intrinsic factor deficiency											NCIT:C2871|SCTID:84027009|ICD10:D51.0|GARD:0012671|DOID:13381|ICD9:281.0|EFO:0005576|MESH:D000752|UMLS:C0002892|COHD:432295|OMIM:170900																		owl:Class
MONDO:0017307	biolink:NamedThing	disorder of tyrosine metabolism		mondoexuq1wtf												ICD9:270.2|UMLS:CN202881|ICD10:E70.2|SCTID:37200009|Orphanet:284818																		owl:Class
MONDO:0019235	biolink:NamedThing	inborn disorder of phenylalanin or tyrosine metabolism		mondoexuq1wtf	disorder of phenylalanin or tyrosine metabolism											UMLS:CN227599|Orphanet:79190																		owl:Class
MONDO:0018481	biolink:NamedThing	undifferentiated carcinoma of esophagus	An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.	mondoexuq1wtf	undifferentiated esophageal carcinoma|esophagus undifferentiated carcinoma|undifferentiated esophageal cancer|esophageal undifferentiated carcinoma											UMLS:CN237469|ICD10:C15.3|UMLS:C2188058|NCIT:C27422|ICD10:C15.8|ICD10:C15.2|ICD10:C15.5|Orphanet:418951|ICD10:C15.4|ICD10:C15.0|ICD10:C15.1																		owl:Class
MONDO:0005617	biolink:NamedThing	undifferentiated carcinoma	A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.	mondoexuq1wtf	anaplastic carcinoma|carcinoma, undifferentiated|undifferentiated carcinoma|carcinoma, undifferentiated, malignant											ICDO:8021/3|EFO:0006772|NCIT:C3692|UMLS:C0205698|ICDO:8020/3																		owl:Class
MONDO:0011810	biolink:NamedThing	horizontal gaze palsy with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.	mondoexuq1wtf	gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|gaze palsy, horizontal, with progressive scoliosis|ophthalmoplegia, progressive external, and scoliosis|progressive external ophthalmoplegia and scoliosis											ICD10:H49.4|SCTID:702381007|ICD9:737.43|Orphanet:2744|UMLS:C1846496|MESH:C564593|GARD:0012682|OMIMPS:607313														https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis				owl:Class
MONDO:0020253	biolink:NamedThing	syndrome with a symptomatic strabismus		mondoexuq1wtf												Orphanet:98683|UMLS:CN207072																		owl:Class
MONDO:0033543	biolink:NamedThing	cone-rod synaptic disorder syndrome, congenital nonprogressive		mondoexuq1wtf	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE|CRSDS											OMIM:618970																		owl:Class
MONDO:0030894	biolink:NamedThing	AMED syndrome, digenic		mondoexuq1wtf	AMEDS|bone marrow failure syndrome 7, digenic|AMED syndrome, digenic											OMIM:619151																		owl:Class
MONDO:0012721	biolink:NamedThing	progressive myoclonic epilepsy type 3	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.	mondoexuq1wtf	EPM 3|ceroid lipofuscinosis, neuronal, 14|EPM3|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|progressive myoclonic epilepsy caused by mutation in KCTD7|progressive myoclonic epilepsy due to KCTD7 deficiency|epilepsy progressive myoclonic type 3|PME type 3|progressive myoclonus epilepsy type 3|KCTD7 progressive myoclonic epilepsy|progressive myoclonic epilepsy 3											OMIM:611726|GARD:0002167|UMLS:C2673257|DOID:0111446|MESH:C567095|ICD10:G40.3|Orphanet:263516														https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3				owl:Class
MONDO:0018284	biolink:NamedThing	congenital disorder of glycosylation with neurological involvement		mondoexuq1wtf	CDG with neurological involvement											ICD10:E77.8|Orphanet:371047																		owl:Class
MONDO:0010438	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria 1	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.	mondoexuq1wtf	paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria type 1|PIGA paroxysmal nocturnal hemoglobinuria|PNH1|paroxysmal nocturnal hemoglobinuria 1|pIgA paroxysmal nocturnal hemoglobinuria											OMIM:300818|UMLS:C3806670																		owl:Class
MONDO:0100243	biolink:NamedThing	inherited paroxysmal nocturnal hemoglobinuria	An instance of paroxysmal nocturnal hemoglobinuria that is inherited.	mondoexuq1wtf	hereditary paroxysmal nocturnal hemoglobinuria							http://orcid.org/0000-0001-5208-3432				OMIMPS:300818																		owl:Class
MONDO:0008156	biolink:NamedThing	autosomal dominant osteopetrosis 2	Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).	mondoexuq1wtf	osteopetrosis, autosomal dominant type 2|osteosclerosis Fragilis generalisata|Albers-Schonberg disease, autosomal dominant|marble bones, autosomal dominant|autosomal dominant Albers-Schonberg disease|autosomal dominant osteopetrosis type 2|autosomal dominant osteopetrosis type II|osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant 2|OPTA2|Albers-Schönberg osteopetrosis|Albers-Schonberg osteopetrosis|osteopetrosis, autosomal dominant, type 2											DOID:0110938|Orphanet:53|GARD:0000383|ICD10:Q78.2|SCTID:725050005|UMLS:C3179239|OMIM:166600																		owl:Class
MONDO:0001824	biolink:NamedThing	polyneuropathy	A disease or disorder affecting more than one nerve.	mondoexuq1wtf	polyneuropathy											SCTID:42345000|ICD9:357.4|ICD10:G62.9|ICD10:A69.22|ICD9:356.9|COHD:4174262|DOID:1389|MESH:D011115|NCIT:C26951|UMLS:C0152025																		owl:Class
MONDO:0003021	biolink:NamedThing	central nervous system angiosarcoma	A malignant vascular neoplasm arising from the brain, spinal cord or meninges.	mondoexuq1wtf	hemangiosarcoma of the central nervous system|angiosarcoma of the CNS|angiosarcoma of central nervous system|CNS hemangiosarcoma|central nervous system angiosarcoma|angiosarcoma of the central nervous system|angiosarcoma of CNS|angiosarcoma (disease) of central nervous system|central nervous system angiosarcoma (disease)|hemangiosarcoma of central nervous system|hemangiosarcoma of CNS|hemangiosarcoma of the CNS|central nervous system hemangiosarcoma|CNS angiosarcoma											DOID:4504|UMLS:C1332875|NCIT:C5450																		owl:Class
MONDO:0016982	biolink:NamedThing	angiosarcoma	A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.	mondoexuq1wtf	hemangiosarcoma, malignant|blood vessel sarcoma|hemangiosarcoma|angiosarcoma (disease)|vascular sarcoma|malignant hemangioendothelioma|angiosarcoma|sarcoma of blood vessel|malignant angioendothelioma		angiosarcoma (disease)									MedDRA:10002476|DOID:0001816|Orphanet:263413|SCTID:403977003|NCIT:C3088|UMLS:C0018923|ICDO:9120/3|ICD10:C49.9|EFO:0003967|EFO:0003968|ICD9:171.9|ONCOTREE:ANGS|MESH:D006394|HP:0200058																		owl:Class
MONDO:0016910	biolink:NamedThing	partial deletion of the long arm of chromosome 11	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.	mondoexuq1wtf	partial deletion of the long arm of chromosome type 11|loss of chromosome 11q|partial monosomy 11q|partial monosomy of chromosome 11q|monosomy 11q partial|partial monosomy of the long arm of chromosome 11|11q deletion|chromosome 11q partial deletion|monosomy 11q|Deletion 11q partial|11q monosomy|del(11q)|deletion 11q|partial deletion of chromosome 11q|chromosome 11q deletion											UMLS:CN035778|GTR:AN0100480|GTR:AN0100478|NCIT:C37312|Orphanet:262092|ICD10:Q93.5|GARD:0001735|MESH:C538296|GTR:AN0100479																		owl:Class
MONDO:0016876	biolink:NamedThing	partial deletion of chromosome 11		mondoexuq1wtf	partial monosomy of chromosome 11|partial deletion of chromosome type 11											Orphanet:261816|ICD10:Q93.5																		owl:Class
MONDO:0015398	biolink:NamedThing	hemifacial microsomia		mondoexuq1wtf	otomandibular syndrome|otomandibular dysostosis|Laterofacial microsomia|first branchial arch syndrome											GARD:0006582|Orphanet:141136|ICD10:Q75.8|SCTID:109393007|UMLS:CN199493																		owl:Class
MONDO:0015397	biolink:NamedThing	oculo-auriculo-vertebral spectrum		mondoexuq1wtf	Expanded spectrum hemifacial microsomia|first arch syndrome|OAV spectrum|facio-auriculo-vertebral spectrum|Goldenhar disease|OAV (oculoauriculovertebral) dysplasia|hemifacial microsomia|facioauriculovertebral sequence|oculoauriculovertebral syndrome|facioauriculovertebral dysplasia|Fav sequence|oculo-auriculo-vertebral dysplasia|OAVD|first and second branchial arch syndrome|HFM|oculoauriculovertebral dysplasia|oculoauriculovertebral spectrum|Goldenhar syndrome|Expanded spectrum of hemifacial microsomia|OAV dysplasia|unilateral or bilateral and asymmetric otomandibular dysplasia|OAVS											UMLS:C0265240|SCTID:367462009|Orphanet:141132|ICD9:759.89|MESH:D006053|NCIT:C84740|DOID:2907|ICD10:Q87.0|GARD:0012074|Orphanet:374|GARD:0006540|OMIM:164210														https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum				owl:Class
MONDO:0007839	biolink:NamedThing	Aase-Smith syndrome	Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	mondoexuq1wtf	Aase-Smith syndrome|Joint contractures with Other abnormalities|Aase-Smith syndrome 1|Aase-Smith I syndrome|Aase-Smith syndrome I|Aase-Smith syndrome type 1|hydrocephalus-cleft palate-joint contractures syndrome											OMIM:147800|MedDRA:10063429|Orphanet:916|SCTID:718576001|UMLS:C0220686|GARD:0005642|MESH:C535332|ICD10:Q87.8																		owl:Class
MONDO:0002010	biolink:NamedThing	FG syndrome	FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.	mondoexuq1wtf	Keller syndrome|Opitz-Kaveggia syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FGS|FGS1											GARD:0002317|OMIMPS:305400|DOID:14711|Orphanet:323|SCTID:49984004|UMLS:C0220769|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome				owl:Class
MONDO:0004925	biolink:NamedThing	chronic dacryocystitis	Chronic form of dacryocystitis.	mondoexuq1wtf	dacryocystitis, chronic											UMLS:C0149506|DOID:9937|ICD10:H04.41|ICD9:375.42|COHD:438760|SCTID:84627005																		owl:Class
MONDO:0004923	biolink:NamedThing	chronic inflammation of lacrimal passage		mondoexuq1wtf												ICD10:H04.4|ICD9:375.4|UMLS:C0155239|SCTID:267653001|DOID:9935																		owl:Class
MONDO:0019565	biolink:NamedThing	hereditary von Willebrand disease	Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).	mondoexuq1wtf	von Willebrand's disease|congenital von willebrand disease|vascular pseudohemophilia|vascular hemophilia|von Willebrand disease|von Willebrand disorder|von Willebrand's-Jurgens' disease|hereditary von Willebrand disease (hereditary or acquired)|von Willebrand-Jrgens disease|congenital von willebrand's disease|von Willebrand-Jurgens disease											MedDRA:10047715|UMLS:C0042974|ICD10:D68.0|Orphanet:903|MESH:C531844|ICD9:286.4|ICD10:D69.8|DOID:12531|GARD:0007867|SCTID:234446004																		owl:Class
MONDO:0016628	biolink:NamedThing	hemorrhagic disorder due to a coagulation factors defect		mondoexuq1wtf	rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect											Orphanet:248315|UMLS:CN226979														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0008605	biolink:NamedThing	triphalangeal thumb, Nonopposable		mondoexuq1wtf	triphalangeal thumb, Nonopposable|triphalangeal thumb non opposable|TPT|non-opposable triphalangeal thumb											MESH:C536562|GARD:0005288|OMIM:190600|UMLS:C2931238																		owl:Class
MONDO:0001071	biolink:NamedThing	intellectual disability	A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.	mondoexuq1wtf	intellectual disabilities|mental retardation											DOID:1059|ICD10:F70.F79|NCIT:C97250|SCTID:91138005|GARD:0011963|EFO:0003847|MESH:D008607|ICD9:319																		owl:Class
MONDO:0005517	biolink:NamedThing	pharynx cancer	A primary or metastatic malignant neoplasm that affects the pharynx.	mondoexuq1wtf	pharynx neoplasm|malignant pharyngeal neoplasm|malignant pharyngeal tumor|pharynx cancer|pharyngeal cancer|malignant neoplasm of chordate pharynx|chordate pharynx cancer|malignant tumor of pharynx|malignant neoplasm of pharynx|pharyngeal neoplasm|malignant pharynx neoplasm|malignant tumor of the pharynx|malignant chordate pharynx neoplasm|cancer of chordate pharynx|malignant pharynx tumor|cancer of pharynx											MESH:D010610|DOID:0060119|NCIT:C7545|EFO:0005577																		owl:Class
MONDO:0021246	biolink:NamedThing	pharynx neoplasm	A neoplasm (disease) that involves the pharynx.	mondoexuq1wtf	pharynx tumor|pharyngeal tumor|neoplasm of the pharynx|tumor of the pharynx|pharyngeal neoplasms|neoplasm of pharynx|pharynx neoplasm (disease)|tumor of pharynx											NCIT:C3325																		owl:Class
MONDO:0016294	biolink:NamedThing	Hirschsprung disease-type D brachydactyly syndrome	Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.	mondoexuq1wtf	Hirschsprung disease type d brachydactyly|Hirschsprung disease with type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly|Hirschsprung disease with type D brachydactyly											ICD10:Q43.1|MESH:C538319|Orphanet:2150|GARD:0002700|OMIM:306980|UMLS:C1844017																		owl:Class
MONDO:0021189	biolink:NamedThing	intestinal motility disease	A disease that has its basis in the disruption of intestinal motility.	mondoexuq1wtf	disorder of intestinal motility																													owl:Class
MONDO:0007949	biolink:NamedThing	Marshall syndrome	Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.	mondoexuq1wtf	deafness, myopia, cataract, saddle nose-Marshall type|Marshall syndrome|MRSHS											Orphanet:560|NCIT:C128115|UMLS:C0265235|ICD9:759.89|OMIM:154780|SCTID:33410002|ICD10:Q87.0|DOID:0111510|MESH:C536025|GARD:0006984																		owl:Class
MONDO:0025514	biolink:NamedThing	livedoid vasculopathy	Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.	mondoexuq1wtf	livedo reticularis with winter ulcerations|livedoid vasculopathy|livedo vasculitis|livedo reticularis with summer ulcerations|idiopathic atrophic blanche|white atrophy|segmental hyalinizing vasculopathy|livedoid vasculitis											UMLS:C0343081|ICD9:709.1|SCTID:238762002|ICD10:L95.0|ICD10CM:L95.0|GARD:0012784|ICD9CM:709.1|DOID:0040099|Orphanet:542643																		owl:Class
MONDO:0033481	biolink:NamedThing	spinocerebellar ataxia 46		mondoexuq1wtf	spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia 46|SCA46											DOID:0080288|Orphanet:589522|OMIM:617770|UMLS:CN623018																		owl:Class
MONDO:0000858	biolink:NamedThing	neuronal intestinal dysplasia		mondoexuq1wtf												SCTID:253783001|UMLS:C0345244|DOID:0080072|ICD9:751.5																		owl:Class
MONDO:0003409	biolink:NamedThing	colonic disease	Pathological processes in the colon region of the large intestine (intestine, large).	mondoexuq1wtf	colon disease or disorder|disease of colon|colon disorder|disorder of colon|colon disease|disease or disorder of colon											DOID:5353|UMLS:C0009373|SCTID:128524007|MESH:D003108																		owl:Class
MONDO:0002675	biolink:NamedThing	neurofibrosarcoma	A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)	mondoexuq1wtf	neurosarcoma [obs]|neurosarcoma											MESH:D018319|GARD:0008211|DOID:3512																		owl:Class
MONDO:0016755	biolink:NamedThing	neurofibroma	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.	mondoexuq1wtf	neurofibroma (WHO grade I)|neurofibroma, benign|neurofibroma|NFIB											ICDO:9540/0|ONCOTREE:NFIB|Orphanet:252183|EFO:0000622|MESH:D009455|GARD:0007191|DOID:962|ICD9:215.9|SCTID:404029005|UMLS:C0027830|MedDRA:10029267|NCIT:C3272														https://rarediseases.info.nih.gov/diseases/7191/neurofibroma				owl:Class
MONDO:0009266	biolink:NamedThing	Gaucher disease type II	Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	mondoexuq1wtf	Gaucher disease, acute neuronopathic type|Gaucher disease, type II|Gaucher disease, infantile cerebral|acute neuronopathic Gaucher disease|Gaucher disease, type 2|Gd 2|GD II|Gaucher's disease type II|infantile cerebral Gaucher disease|Gaucher disease type 2											ICD10:E75.2|OMIM:230900|Orphanet:77260|GARD:0002442|SCTID:12246008|DOID:0110958																		owl:Class
MONDO:0012604	biolink:NamedThing	isolated microphthalmia 3	Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.	mondoexuq1wtf	microphthalmia, isolated type 3|isolated microphthalmia caused by mutation in RAX|RAX isolated microphthalmia|microphthalmia, isolated 3|rax isolated microphthalmia|isolated microphthalmia caused by mutation in rax|isolated microphthalmia type 3|MCOP3											DOID:0060842|UMLS:C1970237|MESH:C567025|OMIM:611038|ICD10:Q11.0																		owl:Class
MONDO:0000062	biolink:NamedThing	isolated microphthalmia	A microphthalmia that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic microphthalmia|microphthalmia, isolated											OMIMPS:251600|DC:0000278|DOID:0080637																		owl:Class
MONDO:0007771	biolink:NamedThing	hyperpigmentation with or without hypopigmentation, familial progressive		mondoexuq1wtf	macules, hereditary congenital hypopigmented and hyperpigmented|hyperpigmentation, familial progressive, 2, formerly|hyperpigmentation with or without hypopigmentation, familial progressive|melanosis, universal|FPHH|melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2											OMIM:145250|UMLS:C1835039|DOID:0111373																		owl:Class
MONDO:0023272	biolink:NamedThing	goniodysgenesis intellectual disability short stature		mondoexuq1wtf												GARD:0002545														https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature				owl:Class
MONDO:0017634	biolink:NamedThing	non-infectious anterior uveitis		mondoexuq1wtf	non-infectious iridocyclitis											Orphanet:306648|SCTID:267619000|UMLS:C0339317																		owl:Class
MONDO:0006651	biolink:NamedThing	anterior uveitis	Inflammation of the iris and anterior chamber of the eye.	mondoexuq1wtf	anterior uveitis|anterior uveitis (disease)|iridocyclitis		anterior uveitis (disease)									ICD10:H20.2|MedDRA:10002709|NCIT:C35109|ICD10:H20.1|GARD:0010941|ICD10:H20.0|HP:0012122|ICD10:H20.8|Orphanet:280886|DOID:1407|ICD10:H20.9|EFO:1000811|UMLS:C0042165|MESH:D014606|SCTID:410692006|CSP:1114-9593																		owl:Class
MONDO:0043346	biolink:NamedThing	progressive transformation of germinal centers	Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.	mondoexuq1wtf	PTGC|progressive transformation of Germinal centers					Editor note: represents a finding in NCIT						MESH:C548085|NCIT:C38408|GARD:0010712																		owl:Class
MONDO:0019125	biolink:NamedThing	relapsing polychondritis	Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.	mondoexuq1wtf	chondromalacia, systemic|chronic atrophic polychondritis|recurrent polychondritis											EFO:1001148|Orphanet:728|ICD9:733.99|UMLS:C0032453|MedDRA:10038304|DOID:2556|MESH:D011081|SCTID:72275000|GARD:0007417|NCIT:C157268|ICD10:M94.1														https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis				owl:Class
MONDO:0019724	biolink:NamedThing	secondary glomerular disease	Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established	mondoexuq1wtf												UMLS:CN206631|Orphanet:93551																		owl:Class
MONDO:0006447	biolink:NamedThing	testicular non-seminomatous germ cell tumor	A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.	mondoexuq1wtf	non-seminomatous germ cell tumor of testis|testicular germ cell tumor non-seminomatous|testicular non-seminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis|testicular non seminomatous germ cell tumor|testicular non-dysgerminomatous germ cell tumor											DOID:4086|UMLS:CN204702|UMLS:C1336724|NCIT:C9313|EFO:1000570|Orphanet:363494|ICD10:C62.1|ICDO:9065/3																		owl:Class
MONDO:0008221	biolink:NamedThing	prolidase deficiency	Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.	mondoexuq1wtf	Imidodipeptidase deficiency|Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria											UMLS:C0268532|GARD:0007473|Orphanet:742|NCIT:C85029|MESH:D056732|SCTID:410055005|DOID:0111540|OMIM:170100|ICD10:E72.8																		owl:Class
MONDO:0013362	biolink:NamedThing	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		mondoexuq1wtf	microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|BBIS|Beaulieu-Boycott-Innes syndrome|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations											OMIM:613680|UMLS:C3150939|Orphanet:363444|ICD10:Q87.0																		owl:Class
MONDO:0019420	biolink:NamedThing	X-linked intellectual disability, Pai type	X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.	mondoexuq1wtf												SCTID:719011002|ICD10:Q87.8|Orphanet:85322|UMLS:CN206176																		owl:Class
MONDO:0021190	biolink:NamedThing	DNA repair disease	A disease that has its basis in the disruption of DNA repair.	mondoexuq1wtf	deficient DNA Repairs|DNA repair-deficiency disorder|deficiency of DNA repair|repair, deficient DNA|syndrome, chromosome instability|DNA repair deficiency|DNA repair, deficient|chromosome instability syndromes|DNA repair-deficiency|syndromes, chromosome instability|Repairs, deficient DNA|deficient DNA repair|DNA Repairs, deficient|disorders, DNA repair-deficiency|DNA repair disorder|DNA repair-deficiencies|DNA repair deficiency disorders|disorder, DNA repair-deficiency|disorder of DNA repair|chromosome instability syndrome											EFO:0008499|MESH:D049914|NCIT:C7757																		owl:Class
MONDO:0005066	biolink:NamedThing	metabolic disease	A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.	mondoexuq1wtf	metabolic disease|metabolic process disease|metabolic disorder|disorder of metabolic process|disease of metabolism											SCTID:75934005|UMLS:C0025517|DOID:0014667|ICD9:277.9|ICD9:277.8|MESH:D008659|NCIT:C3235|COHD:436670|ICD10:E88.9|ICD10:E70.E90|EFO:0000589																		owl:Class
MONDO:0008799	biolink:NamedThing	anophthalmia/microphthalmia-esophageal atresia syndrome	Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.	mondoexuq1wtf	SOX2-related eye disorders|microphthalmia, syndromic type 3|SOX2 anophthalmia syndrome|anophthalmia esophageal genital syndrome|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|syndromic microphthalmia, type 3|microphthalmia and esophageal atresia syndrome|anophthalmia-esophageal-genital syndrome|MCOPS3|syndromic microphthalmia type 3|microphthalmia, syndromic 3|optic nerve hypoplasia and abnormalities of the central nervous system|anophthalmia, clinical, with associated anomalies|Aeg syndrome											ICD9:758.5|GARD:0001443|ICD10:Q87.8|OMIM:206900|SCTID:698851003|Orphanet:77298																		owl:Class
MONDO:0019827	biolink:NamedThing	disease associated with non-acquired combined pituitary hormone deficiency		mondoexuq1wtf	secondary non-acquired combined pituitary hormone deficiency											Orphanet:95495|UMLS:CN206775																		owl:Class
MONDO:0008885	biolink:NamedThing	Elsahy-Waters syndrome	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	mondoexuq1wtf	hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|branchio-skeleto-genital syndrome|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|hypospadias-hypertelorism-coloboma and deafness syndrome|brachioskeletogenital syndrome|ESWS|Elsahy-Waters syndrome|BSG syndrome|ELSAHY-Waters syndrome											Orphanet:1299|SCTID:719097002|MESH:C537084|MESH:C566373|Orphanet:157788|OMIM:603463|GARD:0000955|DOID:0080631|ICD10:Q87.8|OMIM:211380|UMLS:C1863870																		owl:Class
MONDO:0034092	biolink:NamedThing	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome		mondoexuq1wtf												Orphanet:543470																		owl:Class
MONDO:0011886	biolink:NamedThing	torsion dystonia 13	DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.	mondoexuq1wtf	primary dystonia with mixed phenotype|primary dystonia, DYT13 type|torsion dystonia type 13|primary torsion dystonia with predominant craniocervical or upper limb onset|DYT13|dystonia 13, torsion, autosomal dominant											SCTID:719278006|DOID:0090037|ICD10:G24.1|OMIM:607671|MESH:C564354|Orphanet:98807																		owl:Class
MONDO:0015990	biolink:NamedThing	focal, segmental or multifocal dystonia	A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.	mondoexuq1wtf												Orphanet:1866|ICD10:G24.8|ICD10:G24.3|ICD10:G24.5|ICD10:G24.4																		owl:Class
MONDO:0018444	biolink:NamedThing	female infertility due to fertilization defect		mondoexuq1wtf	female infertility due to fecundation defect|rare female infertility due to oocyte maturation defect|rare female infertility due to oocyte maturation											ICD10:N97.8|Orphanet:404469																		owl:Class
MONDO:0021124	biolink:NamedThing	female infertility	Diminished or absent ability of a female to achieve conception.	mondoexuq1wtf	female reproductive system infertility|sterility, female|postpartum sterility|female sterility|sub-fertility, female|sterility, postpartum|female sub-fertility|sub fertility, female|subfertility, female|infertility disorder of female reproductive system|female subfertility|female infertility|female reproductive system infertility disorder											ICD9:628.9|ICD10:N97|MESH:D007247|COHD:201909|SCTID:6738008|ICD9:628.8|EFO:0008560|UMLS:C0341869																		owl:Class
MONDO:0013116	biolink:NamedThing	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		mondoexuq1wtf	myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome|myopathy with cataract and combined respiratory-chain deficiency											UMLS:C2751320|ICD10:G71.3|OMIM:613076|GARD:0010522|Orphanet:330054|MESH:C567769																		owl:Class
MONDO:0009637	biolink:NamedThing	inborn mitochondrial myopathy	Myopathy caused by mitochondrial abnormalities.	mondoexuq1wtf	mitochondrial cytopathy|mitochondrial myopathy											DOID:699|Orphanet:206966|NCIT:C101328|UMLS:C0162670|MESH:D017240|GARD:0011956|MedDRA:10027710|ICD10:G71.3																		owl:Class
MONDO:0022656	biolink:NamedThing	cardiomyopathy spherocytosis		mondoexuq1wtf												GARD:0001110														https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis				owl:Class
MONDO:0032850	biolink:NamedThing	neurooculocardiogenitourinary syndrome		mondoexuq1wtf	NEUROOCULOCARDIOGENITOURINARY SYNDROME|NOCGUS											OMIM:618652|DOID:0111675																		owl:Class
MONDO:0014037	biolink:NamedThing	spermatogenic failure 11	Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.	mondoexuq1wtf	azoospermia caused by mutation in KLHL10|SPGF11|KLHL10 azoospermia|spermatogenic failure type 11|spermatogenic failure 11											UMLS:C3554453|OMIM:615081|DOID:0070180																		owl:Class
MONDO:0044696	biolink:NamedThing	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		mondoexuq1wtf	PEBAS|encephalopathy, progressive, early-onset, with brain atrophy and spasticity											OMIM:617669|Orphanet:500144|UMLS:CN474476																		owl:Class
MONDO:0010221	biolink:NamedThing	CHIME syndrome	CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	mondoexuq1wtf	Zunich-Kaye syndrome|CHIME|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|neuroectodermal dysplasia, CHIME type|glycosylphosphatidylinositol biosynthesis defect 5|neuroectodermal syndrome, Zunich type|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|Zunich neuroectodermal syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|PIGL-CDG|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome											Orphanet:3474|OMIM:280000|GARD:0000310|UMLS:C1848392|MESH:C536729|ICD10:Q87.8|SCTID:720639008																		owl:Class
MONDO:0018296	biolink:NamedThing	congenital disorder of glycosylation with developmental anomaly		mondoexuq1wtf	CDG with developmental anomaly											GARD:0012782|ICD10:E77.8|Orphanet:371235														https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly				owl:Class
MONDO:0006187	biolink:NamedThing	duodenal villous adenoma	A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	villous adenoma, duodenum|duodenal villous adenoma|duodenum villous adenoma|villous adenoma of duodenum|duodenum adenoma|villous adenoma of the duodenum											UMLS:C1333322|EFO:1000225|DOID:0050927|NCIT:C5338																		owl:Class
MONDO:0021375	biolink:NamedThing	tumor of duodenum	A neoplasm (disease) that involves the duodenum.	mondoexuq1wtf	duodenum tumor|duodenal tumor|neoplasm of duodenum|neoplasm of the duodenum|duodenum neoplasm (disease)|tumor of duodenum|duodenal neoplasm|duodenum neoplasm|tumor of the duodenum											SCTID:126833009|NCIT:C2995																		owl:Class
MONDO:0019796	biolink:NamedThing	acrocephalosyndactyly	Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.	mondoexuq1wtf	acrocephalosyndactylia|ACS|acrocephalosyndactyly											Orphanet:946|COHD:439134|ICD10:Q87.0|EFO:0004123|MedDRA:10000590|SCTID:268262006|DOID:12960|GARD:0000486|ICD9:755.55|NCIT:C34348																		owl:Class
MONDO:0015338	biolink:NamedThing	syndromic craniosynostosis	A craniosynostosis that is part of a larger syndrome.	mondoexuq1wtf	syndromic craniosynostosis|syndrome associated with craniosynostosis											Orphanet:139393|UMLS:CN226660																		owl:Class
MONDO:0011977	biolink:NamedThing	8q22.1 microdeletion syndrome	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.	mondoexuq1wtf	NMLFS|monosomy 8q22.1|chromosome 8Q22.1 deletion syndrome|NABLUS mask-like facial syndrome|Nablus mask-like facial syndrome											GARD:0004722|OMIM:608156|SCTID:719664004|Orphanet:178303|ICD10:Q93.5|UMLS:C1842464|MESH:C536110																		owl:Class
MONDO:0018889	biolink:NamedThing	hyaline body myopathy		mondoexuq1wtf	myosin storage myopathy											DOID:0111267|ICD10:G71.2|GARD:0007148|Orphanet:53698																		owl:Class
MONDO:0043875	biolink:NamedThing	tumor lysis syndrome	A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.	mondoexuq1wtf	syndrome, tumour lysis|syndromes, tumour lysis|syndromes, tumor lysis|syndrome, tumor lysis|tumor lysis syndrome|tumour lysis syndromes|tumor lysis syndromes|tumour lysis syndrome											SCTID:277605001|MESH:D015275|EFO:1001479|UMLS:C0041364|NCIT:C3425																		owl:Class
MONDO:0016537	biolink:NamedThing	lymphoproliferative syndrome	A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).	mondoexuq1wtf	lymphoproliferative disorder											DOID:0060704|NCIT:C9308|OMIMPS:308240|MESH:D008232|Orphanet:238510|SCTID:277466009|UMLS:CN201619																		owl:Class
MONDO:0003595	biolink:NamedThing	sclerosing liposarcoma	A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.	mondoexuq1wtf												DOID:5704|ICD9:171.9|NCIT:C6507|SCTID:404068003|UMLS:C0334469																		owl:Class
MONDO:0005103	biolink:NamedThing	well-differentiated liposarcoma	A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.	mondoexuq1wtf	well differentiated liposarcoma|WDLS|atypical lipoma|ALT|well differentiated liposarcoma of deep soft tissue|atypical lipomatous tumor|well-differentiated liposarcoma											EFO:0000736|Orphanet:99971|UMLS:C1370889|ICDO:8851/3|NCIT:C4250|ICD10:C49.9|ONCOTREE:WDLS																		owl:Class
MONDO:0002205	biolink:NamedThing	vulvar melanoma	A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.	mondoexuq1wtf	melanoma (disease) of mammalian vulva|vulvar melanoma|mammalian vulva melanoma|mammalian vulva melanoma (disease)|malignant melanoma of vulva|vulvar melanoma (disease)		vulvar melanoma (disease)									HP:0030418|UMLS:C0241989|DOID:2093|SCTID:254896002|NCIT:C40329																		owl:Class
MONDO:0006320	biolink:NamedThing	non-cutaneous melanoma	Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)	mondoexuq1wtf	non-cutaneous melanoma|extracutaneous melanoma											NCIT:C8711|EFO:1000397|UMLS:C1334974																		owl:Class
MONDO:0006029	biolink:NamedThing	cecum carcinoma	A carcinoma that arises from epithelial cells of the caecum	mondoexuq1wtf	carcinoma of caecum|carcinoma of cecum|carcinoma of the cecum|cecum carcinoma|caecum carcinoma|cecal cancer|cecum cancer											NCIT:C3491|EFO:1000021|UMLS:C0149640|DOID:1519|SCTID:255081007																		owl:Class
MONDO:0012504	biolink:NamedThing	camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	mondoexuq1wtf	CATSHLS|CATSHL syndrome|camptodactyly, tall stature, and hearing loss syndrome											ICD10:Q87.2|DOID:0111160|Orphanet:85164|UMLS:C1864852|MESH:C537975|GARD:0010012|OMIM:610474																		owl:Class
MONDO:0019685	biolink:NamedThing	FGFR3-related chondrodysplasia		mondoexuq1wtf												Orphanet:93420																		owl:Class
MONDO:0043156	biolink:NamedThing	nephrotic syndrome ocular anomalies		mondoexuq1wtf	Glastre Cochat Bouvier syndrome|familial infantile nephrotic syndrome with ocular abnormalities											UMLS:C2931188|MESH:C536403|GARD:0003945																		owl:Class
MONDO:0005377	biolink:NamedThing	nephrotic syndrome	A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.	mondoexuq1wtf	syndrome, nephrotic|syndromes, nephrotic|nephrosis|nephrotic syndromes|nephrotic syndrome											ICD9:581|UMLS:C0027726|NCIT:C34845|EFO:0004255|SCTID:52254009|ICD9:581.9|MESH:D009404|COHD:195314|ICD10:N04|DOID:1184																		owl:Class
MONDO:0015726	biolink:NamedThing	distal trisomy 14q		mondoexuq1wtf	distal trisomy type 14q|distal duplication 14q|trisomy 14qter|telomeric duplication 14q											ICD10:Q92.3|MESH:C538034|UMLS:CN036934|Orphanet:1705																		owl:Class
MONDO:0024419	biolink:NamedThing	enthesitis	Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.	mondoexuq1wtf	enthesitis|enthesis inflammation|inflammatory enthesopathy|inflammation of enthesis											NCIT:C114470|SCTID:359643005|UMLS:C1282952																		owl:Class
MONDO:0002183	biolink:NamedThing	enthesopathy	A disorder involving the attachment of a tendon or ligament to a bone	mondoexuq1wtf	disease of enthesis|disease or disorder of enthesis|disorder of enthesis|enthesis disease or disorder|enthesis disease											UMLS:C0242490|ICD9:726.9|DOID:204|ICD9:726.90|SCTID:23680005|COHD:73008|ICD10:M77.9																		owl:Class
MONDO:0100194	biolink:NamedThing	pregnancy associated osteoporosis	A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.	mondoexuq1wtf	pregnancy and lactation-associated osteoporosis							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0024575	biolink:NamedThing	pregnancy disorder	A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.	mondoexuq1wtf	disorder of pregnancy|pregnancy disorder|complication, pregnancy|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|pregnancy complication|pregnancy disease|complication of pregnancy or childbirth											SCTID:173300003|MESH:D011248|NCIT:C35169																		owl:Class
MONDO:0021138	biolink:NamedThing	bone marrow cancer	Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003	mondoexuq1wtf	malignant bone marrow tumor|cancer of bone marrow|malignant neoplasm of bone marrow|malignant bone marrow neoplasm|bone marrow cancer											NCIT:C35501|UMLS:C2703042																		owl:Class
MONDO:0005374	biolink:NamedThing	bone marrow neoplasm	Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).	mondoexuq1wtf	neoplasm of bone marrow|malignant bone marrow tumor|bone marrow tumor|bone marrow neoplasm|bone marrow cancer|tumor of bone marrow|bone marrow neoplasm (disease)											SCTID:414824005|ICD9:238.79|MESH:D019046|DOID:4960|NCIT:C35370|UMLS:C0282609|ICD10:D47.1																		owl:Class
MONDO:0023540	biolink:NamedThing	Kashani-Strom-Utley syndrome		mondoexuq1wtf	hypoplastic pulmonary arteries and aorta with obstructive uropathy|Kashani Strom Utley syndrome|pulmonary aortic stenosis obstructive uropathy										MONDO:0023539	UMLS:C2931392|GARD:0000191|Orphanet:1137|MESH:C537010																		owl:Class
MONDO:0009103	biolink:NamedThing	diaphragmatic hernia 2		mondoexuq1wtf	diaphragmatic hernia 2|DIH2											MESH:C565629|OMIM:222400																		owl:Class
MONDO:0005711	biolink:NamedThing	congenital diaphragmatic hernia	Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.	mondoexuq1wtf	congenital diaphragmatic defect|diaphragmatic hernia|agenesis of hemidiaphragm|unilateral agenesis of diaphragm|CDH											EFO:0007216|DOID:3827|GARD:0001481|ICD10:Q79.0|UMLS:C0235833|COHD:4066010|Orphanet:2140|MedDRA:10010439|ICD10:K44.9|NCIT:C98893|ICD10:K44																		owl:Class
MONDO:0011776	biolink:NamedThing	CINCA syndrome	Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.	mondoexuq1wtf	Prieur-Griscelli syndrome|neonatal onset multisystem inflammatory disease|CINCA/NOMID|multisystem inflammatory disease, neonatal-onset|chronic infantile neurological cutaneous and articular syndrome|chronic infantile neurological cutaneous articular syndrome|neonatal-onset multisystem inflammatory disease|CINCA|IOMID syndrome|IOMID|Prieur Griscelli syndrome|NOMID|NOMID syndrome|infantile-onset multisystem inflammatory disease|infantile onset multisystem inflammatory disease|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|Cryopyrin-associated periodic syndrome 3|CINCA syndrome											ICD9:759.89|Orphanet:1451|SCTID:239826001|OMIM:607115|GARD:0001356|DOID:0090029|ICD10:E85.0|NCIT:C116380																		owl:Class
MONDO:0017259	biolink:NamedThing	systemic diseases with anterior uveitis		mondoexuq1wtf												UMLS:CN202777|Orphanet:280926																		owl:Class
MONDO:0031037	biolink:NamedThing	famililal cerebral cavernous malformations	A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	mondoexuq1wtf	hereditary brain cavernous angioma|cavernous angioma, familial|familial cerebral cavernous malformation|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|familial brain cavernous hemangioma|cerebral capillary malformations|familial cerebral cavernoma|hereditary cerebral cavernous malformation|hereditary brain cavernous hemangioma|familial brain cavernous angioma|CCM|cavernous angiomatous malformations|cavernous malformations of CNS and retina|hereditary cerebral cavernoma|cerebral cavernous malformations											Orphanet:221061|UMLS:C2931263|OMIMPS:116860|ICD10:Q28.3|SCTID:717003001																		owl:Class
MONDO:0018143	biolink:NamedThing	pyruvate carboxylase deficiency, benign type	Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.	mondoexuq1wtf	pyruvate carboxylase deficiency type C											ICD10:E74.4|UMLS:CN204540|Orphanet:353320																		owl:Class
MONDO:0009949	biolink:NamedThing	pyruvate carboxylase deficiency disease	Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.	mondoexuq1wtf	pyruvate carboxylase deficiency|Leigh syndrome due to pyruvate carboxylase deficiency|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|Pc deficiency|deficiency of pyruvic carboxylase|ataxia with lactic acidosis type II|ataxia with lactic acidosis 2											DOID:3651|Orphanet:3008|SCTID:87694001|UMLS:C0034341|EFO:1001142|ICD10:E74.4|GARD:0007512|UMLS:CN203409|ICD9:277.89|UMLS:C2931141|MESH:D015324|NCIT:C85040|OMIM:266150																		owl:Class
MONDO:0002642	biolink:NamedThing	trochlear nerve neoplasm	A neoplasm involving a trochlear nerve.	mondoexuq1wtf	neoplasm of trochlear nerve|IVth cranial nerve tumors|trochlear nerve tumors|tumor of trochlear nerve|fourth cranial nerve tumor|fourth cranial nerve tumors|tumor of fourth cranial nerve|IVth cranial nerve neoplasms|trochlear nerve tumor|trochlear nerve neoplasm (disease)|tumor of the fourth cranial nerve|tumor of the trochlear nerve|neoplasm of the fourth cranial nerve|trochlear nerve neoplasms|fourth cranial nerve neoplasm|neoplasm of the trochlear nerve|fourth cranial nerve neoplasms|neoplasm of fourth cranial nerve											ICD9:239.7|UMLS:C1263896|DOID:3421|SCTID:126970001|NCIT:C5825																		owl:Class
MONDO:0002633	biolink:NamedThing	cranial nerve neoplasm	Abnormal growth of the cells that comprise the cranial nerves.	mondoexuq1wtf	cranial nerve neoplasm (disease)|tumor of cranial nerve|cranial nerve neoplasm|neoplasm of the cranial nerve|cranial nerve neoplasms|neoplasm of cranial nerve|cranial nerve tumor|tumor of the cranial nerve											SCTID:126966009|NCIT:C2963|DOID:338|ICD9:239.7|MESH:D003390|UMLS:C0010267																		owl:Class
MONDO:0014917	biolink:NamedThing	developmental and epileptic encephalopathy, 42	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.	mondoexuq1wtf	CACNA1A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 42; EIEE42|DEE42|EIEE42|epileptic encephalopathy, early infantile, type 42|epileptic encephalopathy, early infantile, 42|early infantile epileptic encephalopathy caused by mutation in CACNA1A											OMIM:617106|UMLS:C4310716|DOID:0080454																		owl:Class
MONDO:0018614	biolink:NamedThing	undetermined early-onset epileptic encephalopathy	A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.	mondoexuq1wtf	undetermined EOEE											ICD10:G40.4|Orphanet:442835																		owl:Class
MONDO:0014005	biolink:NamedThing	immunoglobulin-mediated membranoproliferative glomerulonephritis	Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.	mondoexuq1wtf	immune Complex mediated membranoproliferative glomerulonephritis|hemolytic uremic syndrome, atypical, susceptibility to, 7|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Ahus, susceptibility to, 7|NPHS7|Mesangiocapillary glomerulonephritis type 1|nephrotic syndrome, type 7|membranoproliferative glomerulonephritis type I|Ig-mediated membranoproliferative glomerulonephritis|Immunoglobulin-mediated MPGN|Ig-mediated MPGN											Orphanet:329903|NCIT:C123055|OMIM:615008|ICD10:N00.5																		owl:Class
MONDO:0005334	biolink:NamedThing	hereditary nephritis	A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.	mondoexuq1wtf	nephritis, familial|hereditary nephritis|familial nephritis											MESH:D009394|EFO:0004128|SCTID:399340005																		owl:Class
MONDO:0004078	biolink:NamedThing	mucinous intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that produces abundant mucin.	mondoexuq1wtf	mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma											DOID:7024|UMLS:C1513718|NCIT:C41618																		owl:Class
MONDO:0002739	biolink:NamedThing	extrahepatic bile duct mucinous adenocarcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	mondoexuq1wtf	bile duct colloid carcinoma|colloid adenocarcinoma of extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloid adenocarcinoma of bile duct|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|mucinous carcinoma of the bile duct|bile duct colloidal carcinoma|colloid carcinoma of bile duct|colloid bile duct carcinoma|colloid extrahepatic bile duct adenocarcinoma|mucinous adenocarcinoma of bile duct|colloidal bile duct adenocarcinoma|mucinous extrahepatic bile duct adenocarcinoma|colloidal extrahepatic bile duct adenocarcinoma|extrahepatic bile duct mucinous adenocarcinoma|colloid bile duct adenocarcinoma|colloidal carcinoma of bile duct|colloidal adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|mucinous adenocarcinoma of extrahepatic bile duct|colloidal adenocarcinoma of bile duct|colloidal bile duct carcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloid adenocarcinoma of the bile duct|mucinous adenocarcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|colloidal carcinoma of the bile duct											UMLS:C0861856|DOID:3698|NCIT:C5846																		owl:Class
MONDO:0008808	biolink:NamedThing	aplasia cutis congenita-intestinal lymphangiectasia syndrome	Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	autosomal recessive aplasia cutis|Bronspiegel-Zelnick syndrome|aplasia cutis congenita intestinal lymphangiectasia|ACC with intestinal lymphangiectasia|aplasia cutis congenita with intestinal lymphangiectasia											Orphanet:1116|MESH:C537788|GARD:0000753|OMIM:207731|SCTID:720500008																		owl:Class
MONDO:0015331	biolink:NamedThing	malformation syndrome with skin/mucosae involvement		mondoexuq1wtf												UMLS:CN199361|Orphanet:139027																		owl:Class
MONDO:0001748	biolink:NamedThing	maxillary sinus carcinoma	A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.	mondoexuq1wtf	cancer of maxillary sinus|malignant neoplasm of antrum|carcinoma of maxillary sinus|maxillary sinus cancer|malignant neoplasm of maxillary sinus|malignant maxillary sinus tumor|malignant neoplasm of the maxillary sinus|malignant tumor of maxillary sinus|maxillary sinus carcinoma|malignant maxillary sinus neoplasm|malignant tumor of the maxillary sinus											NCIT:C3540|ICD10:C31.0|SCTID:363425008|NCIT:C9332|ICD9:160.2|DOID:1357																		owl:Class
MONDO:0006850	biolink:NamedThing	maxillary sinus neoplasm	A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	neoplasm of the maxillofacial sinus|tumor of the maxillary sinus|neoplasm of maxillary sinus|maxillary sinus tumor|tumor of maxillary antrum|maxillary antrum tumor|maxillary sinus neoplasm (disease)|maxillary antrum neoplasm|neoplasm of the maxillary sinus|neoplasm of the maxillary antrum|neoplasm of maxillofacial sinus|tumor of the maxillary antrum|tumor of maxillary sinus|maxillofacial sinus tumor|tumor of the maxillofacial sinus|maxillary sinus neoplasm|neoplasm of maxillary antrum|maxillofacial sinus neoplasm|tumor of maxillofacial sinus										MONDO:0021213	SCTID:126676009|MedDRA:10026130|UMLS:C0024958|DOID:1358|EFO:1001035|MESH:D008444|NCIT:C3219																		owl:Class
MONDO:0012416	biolink:NamedThing	Devriendt syndrome		mondoexuq1wtf	Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism											UMLS:C1857830|MESH:C535947|OMIM:610136|GARD:0010052														https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome				owl:Class
MONDO:0032841	biolink:NamedThing	Usher syndrome, type 1M		mondoexuq1wtf	USHER SYNDROME, TYPE 1M|USH1M											OMIM:618632																		owl:Class
MONDO:0002204	biolink:NamedThing	transient arthritis	Arthritis that is not permanent.	mondoexuq1wtf	transient arthropathy											ICD10:M12.8|DOID:2092|UMLS:C0152083|ICD9:716.4|UMLS:C3887596|ICD9:716.40|SCTID:6011000119108																		owl:Class
MONDO:0001429	biolink:NamedThing	transient arthropathy	Arthropathy that is not permanent.	mondoexuq1wtf	transient arthropathy involving shoulder region|transient arthropathy involving lower leg|transient arthropathy involving upper arm|transient arthropathy involving multiple sites|transient arthropathy involving hand|transient arthropathy involving forearm|transient arthropathy involving pelvic region and thigh											SCTID:66191007|DOID:12084|ICD9:716.48|ICD9:716.41|ICD9:716.40|NCIT:C35761|COHD:81930																		owl:Class
MONDO:0018207	biolink:NamedThing	2p13.2 microdeletion syndrome	2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	mondoexuq1wtf	Del(2)(p13.2)											UMLS:CN204723|Orphanet:363680|ICD10:Q93.5																		owl:Class
MONDO:0009935	biolink:NamedThing	pulmonary hypertension, primary, autosomal recessive		mondoexuq1wtf	pulmonary hypertension, primary, autosomal recessive											UMLS:C1849552|OMIM:265400|MESH:C564862																		owl:Class
MONDO:0008347	biolink:NamedThing	idiopathic and/or familial pulmonary arterial hypertension	Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.	mondoexuq1wtf	IFPAH|pulmonary hypertension, primary, 1|pulmonary hypertension, primary, type 1|PPH1											Orphanet:422|ICD10:I27.0|UMLS:CN205068																		owl:Class
MONDO:0020680	biolink:NamedThing	acute bronchiolitis	Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.	mondoexuq1wtf	Capillary pneumonia|acute Bronchiolitis|capillary pneumonia|acute capillary bronchiolitis|acute bronchiolitis											ICD9:466.19|NCIT:C39659|SCTID:5505005|ICD9:466.1|UMLS:C0001311																		owl:Class
MONDO:0002465	biolink:NamedThing	bronchiolitis	Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.	mondoexuq1wtf	bronchiolitis (disease)|bronchiolitis|wheezy bronchitis|RSV bronchiolitis|viral bronchiolitis		bronchiolitis (disease)									UMLS:C0006271|MESH:D001988|ICD9:466.19|HP:0011950|DOID:2942|SCTID:4120002|NCIT:C39658																		owl:Class
MONDO:0004585	biolink:NamedThing	polyhydramnios	An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.	mondoexuq1wtf	polyhydramnios (disease)|polyhydramnios		polyhydramnios (disease)			May be obsoleted as it represents a finding						HP:0001561|SCTID:86203003|DOID:8488|ICD9:657.0|ICD9:657|ICD9:657.00|MESH:D006831|ICD10:O40																		owl:Class
MONDO:0012563	biolink:NamedThing	holoprosencephaly 9	Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.	mondoexuq1wtf	HPE9|holoprosencephaly 9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|pituitary anomalies with holoprosencephaly-like features|GLI2 holoprosencephaly|holoprosencephaly type 9|holoprosencephaly with microphthalmia and first branchial arch anomalies|holoprosencephaly caused by mutation in GLI2											DOID:0110873|UMLS:C1835819|OMIM:610829																		owl:Class
MONDO:0019757	biolink:NamedThing	alobar holoprosencephaly	Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.	mondoexuq1wtf												Orphanet:93925|ICD10:Q04.2|SCTID:253137003																		owl:Class
MONDO:0003803	biolink:NamedThing	aortic valve disease	A disease involving the aortic valve.	mondoexuq1wtf	aortic valve disease|disease or disorder of aortic valve|aortic valve disorder|disease of aortic valve|disorder of aortic valve|aortic valve disease or disorder											UMLS:C1260873|ICD9:424.1|NCIT:C78650|ICD9:395|DOID:62																		owl:Class
MONDO:0005561	biolink:NamedThing	aortic disease	Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)	mondoexuq1wtf	disease or disorder of aorta|aortic disorder|aorta disease|aorta disease or disorder|disorder of aorta|disease of aorta|disorder of the aorta											EFO:0005775|ICD9:447.9|MESH:D001018|DOID:520|SCTID:47040006|UMLS:C0003493|NCIT:C101253																		owl:Class
MONDO:0010756	biolink:NamedThing	Von Willebrand disease, X-linked form		mondoexuq1wtf	Von Willebrand disease, X-linked|Von Willebrand disease, X-linked form											MESH:C564041|UMLS:C1839113|OMIM:314560																		owl:Class
MONDO:0001739	biolink:NamedThing	purulent labyrinthitis	A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.	mondoexuq1wtf	acute suppurative labyrinthitis|suppurative labyrinthitis|bacterial labyrinthitis											UMLS:C0155506|SCTID:24817009|DOID:13534|ICD9:386.33																		owl:Class
MONDO:0002008	biolink:NamedThing	labyrinthitis	Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.	mondoexuq1wtf	inner ear infection|internal ear inflammation|otitis interna|inflammation of internal ear					Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case.						ICD9:386.3|DOID:1468|NCIT:C128369|UMLS:C0022893|DOID:3930|MESH:D007762|SCTID:23919004|ICD10:H83.0|ICD10:H83.09|COHD:74052|ICD9:386.30																		owl:Class
MONDO:0044098	biolink:NamedThing	ovarian ectopic pregnancy	An abnormal pregnancy in which the conception is implanted on the ovary.	mondoexuq1wtf	ectopic pregnancy of ovary|Pregnancies, ovarian|ovarian pregnancy|ovary ectopic pregnancy|ovarian Pregnancies											SCTID:9899009|MESH:D065172|NCIT:C92945																		owl:Class
MONDO:0000755	biolink:NamedThing	ectopic pregnancy	An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.	mondoexuq1wtf	pregnancy, ectopic|extrauterine pregnancy|eccyesis											MESH:D011271|DOID:0060329|ICD9:633|NCIT:C34945|ICD9:633.8|ICD9:633.90|SCTID:34801009|ICD10:O00.9|GARD:0006318|ICD9:633.9|ICD10:O00														https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy				owl:Class
MONDO:0043783	biolink:NamedThing	sclerema neonatorum	A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.	mondoexuq1wtf	sclerema adiposum|sclerema neonatorum|underwood's disease											NCIT:C35009|SCTID:206539008|MESH:D012593																		owl:Class
MONDO:0013164	biolink:NamedThing	beta-ureidopropionase deficiency	Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).	mondoexuq1wtf	UPB1D|BETA-ureidopropionase deficiency|Beta-alanine synthase deficiency|beta-ureidopropionase deficiency											MESH:C563210|ICD9:277.6|SCTID:124511000|UMLS:C1291512|OMIM:613161|ICD10:E79.8|Orphanet:65287																		owl:Class
MONDO:0016327	biolink:NamedThing	mitochondrial disease with hypertrophic cardiomyopathy		mondoexuq1wtf												Orphanet:217587|UMLS:CN201160																		owl:Class
MONDO:0004069	biolink:NamedThing	inborn mitochondrial metabolism disorder	Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	mondoexuq1wtf	mitochondrial genetic disorders|mitochondrial disease|mitochondrial metabolism disease											Orphanet:68380|DOID:700|MESH:D028361|GARD:0007048														https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders				owl:Class
MONDO:0015987	biolink:NamedThing	scimitar syndrome	Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.	mondoexuq1wtf	Epibronchial right pulmonary vein syndrome|congenital pulmonary venolobar syndrome|Halasz syndrome|hypogenetic lung syndrome											SCTID:39905002|MedDRA:10051951|UMLS:C0036400|Orphanet:185|MESH:D012587|ICD10:Q26.8|NCIT:C85056|ICD9:747.49																		owl:Class
MONDO:0020292	biolink:NamedThing	congenital anomaly of the great arteries		mondoexuq1wtf	congenital aorta, aortic arch or pulmonary arteries anomaly											MedDRA:10061080|Orphanet:98724																		owl:Class
MONDO:0030998	biolink:NamedThing	deafness, autosomal dominant 80		mondoexuq1wtf	deafness, autosomal dominant 80|DFNA80											OMIM:619274																		owl:Class
MONDO:0019587	biolink:NamedThing	autosomal dominant nonsyndromic deafness	Autosomal dominant form of nonsyndromic deafness.	mondoexuq1wtf	autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant nonsyndromic hearing impairment|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural hearing loss type DFNA|nonsyndromic deafness, autosomal dominant|deafness, autosomal dominant|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant deafness|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated deafness|autosomal dominant nonsyndromic deafness											ICD10:H90.3|OMIMPS:124900|DOID:0050564|UMLS:CN043649|Orphanet:90635																		owl:Class
MONDO:0008695	biolink:NamedThing	chorea-acanthocytosis	Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.	mondoexuq1wtf	neuroacanthocytosis|choreaacanthocytosis|acanthocytosis with neurologic disorder|CHOREOACANTHOCYTOSIS|chorea-acanthocytosis|Levine-Critchley syndrome|choreo-acanthocytosis|Chac|chorea acanthocytosis|choreoacanthocytosis											SCTID:66881004|GARD:0003956|Orphanet:2388|ICD10:E78.6|ICD9:333.0|DOID:0050766|OMIM:200150																		owl:Class
MONDO:0020480	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency		mondoexuq1wtf	combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|MOCOD					Editor note: DO class is more general						ICD10:E72.1|Orphanet:99732|GARD:0003705|OMIMPS:252150|DOID:0111165																		owl:Class
MONDO:0017760	biolink:NamedThing	disorder of other vitamins and cofactors metabolism and transport		mondoexuq1wtf												Orphanet:309833|UMLS:CN227204																		owl:Class
MONDO:0007617	biolink:NamedThing	Coffin-Siris syndrome 1		mondoexuq1wtf	MRD12|COFFIN-SIRIS syndrome 1|intellectual disability, autosomal dominant 12|CSS1|mental retardation, autosomal dominant 12|autosomal dominant mental retardation 12|COFFIN-SIRIS syndrome|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|fifth digit syndrome|mental retardation, autosomal dominant type 12|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|CSS											OMIM:609943|UMLS:CN029606|OMIM:614562|UMLS:C1864967|DOID:0070042|GARD:0009945|MESH:C538391|UMLS:C3281201|OMIM:135900														https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features				owl:Class
MONDO:0011217	biolink:NamedThing	desmosterolosis	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.	mondoexuq1wtf	desmosterolosis											ICD9:272.8|MESH:C566555|GARD:0010283|UMLS:C1865596|ICD10:Q87.8|OMIM:602398|SCTID:709490002|Orphanet:35107														https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis				owl:Class
MONDO:0013221	biolink:NamedThing	Miyoshi muscular dystrophy 2		mondoexuq1wtf	MIYOSHI muscular dystrophy 2|Miyoshi myopathy 2|Miyoshi muscular dystrophy 2|MMD2											UMLS:C2750077|MESH:C567646|DOID:0070200|OMIM:613318																		owl:Class
MONDO:0032812	biolink:NamedThing	developmental and epileptic encephalopathy, 78		mondoexuq1wtf	DEE78|EIEE78|epileptic encephalopathy, early infantile, 78|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78											OMIM:618557																		owl:Class
MONDO:0009527	biolink:NamedThing	lipase deficiency, combined	A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.	mondoexuq1wtf	lipase deficiency combined|combined lipase deficiency|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency|LPL and HTGL deficiency|lipase deficiency, combined											DOID:0111422|OMIM:246650|GARD:0010244|UMLS:C1855498|Orphanet:535453|NCIT:C126558|MESH:C535904														https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined				owl:Class
MONDO:0018637	biolink:NamedThing	familial chylomicronemia syndrome		mondoexuq1wtf												ICD10:E78.3|UMLS:CN231410|DOID:0111417|Orphanet:444490																		owl:Class
MONDO:0008941	biolink:NamedThing	hepatic fibrosis-renal cysts-intellectual disability syndrome	Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome|Thompson Baraitser syndrome|Thompson-Baraitser syndrome											MESH:C565867|Orphanet:2031|OMIM:213010|GARD:0005177																		owl:Class
MONDO:0015508	biolink:NamedThing	genetic parenchymatous liver disease		mondoexuq1wtf												UMLS:CN199641|Orphanet:156604																		owl:Class
MONDO:0004045	biolink:NamedThing	pediatric intraocular retinoblastoma	Retinoblastoma during childhood that has not spread beyond the eye.	mondoexuq1wtf	intraocular retinoblastoma of childhood|intraocular retinoblastoma|childhood intraocular retinoblastoma|pediatric intraocular retinoblastoma											NCIT:C9047|DOID:6938|UMLS:C1321869																		owl:Class
MONDO:0003077	biolink:NamedThing	intraocular retinoblastoma	Retinoblastoma restricted to local involvement.	mondoexuq1wtf	intraocular retinoblastoma											NCIT:C7846|DOID:4653|UMLS:C0278717																		owl:Class
MONDO:0016565	biolink:NamedThing	syndromic genetic obesity		mondoexuq1wtf	syndrome associated with obesity (disease)|syndromic obesity (disease)											UMLS:CN226963|Orphanet:240371																		owl:Class
MONDO:0003332	biolink:NamedThing	malignant struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).	mondoexuq1wtf	struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant											DOID:5208|UMLS:C0334525|NCIT:C4291|ICDO:9090/3																		owl:Class
MONDO:0006444	biolink:NamedThing	teratoma with malignant transformation	A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.	mondoexuq1wtf	dermoid cyst with malignant transformation|TMT|teratoma with malignant transformation											ICDO:9084/3|GARD:0010646|UMLS:C0334523|ONCOTREE:TMT|EFO:1000563|NCIT:C4289														https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation				owl:Class
MONDO:0000577	biolink:NamedThing	congenital anemia	Anemia, the cause of which is present at birth.	mondoexuq1wtf	congenital anemia|congenital anemia (disease)											UMLS:C0158995|SCTID:63565007|NCIT:C35228																		owl:Class
MONDO:0009332	biolink:NamedThing	congenital hematological disorder	A disorder of the blood that is present at birth.	mondoexuq1wtf	congenital hematological system disease|congenital hematological disorder											NCIT:C104003																		owl:Class
MONDO:0007314	biolink:NamedThing	chemodectoma, intraabdominal, with cutaneous angiolipomas		mondoexuq1wtf	abdominal chemodectomas with cutaneous angiolipomas|chemodectoma, intraabdominal, with cutaneous angiolipomas											MESH:C535552|OMIM:118350|GARD:0001265|UMLS:C2930928																		owl:Class
MONDO:0002017	biolink:NamedThing	olivopontocerebellar atrophy	A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.	mondoexuq1wtf	Thomas' syndrome|Dejerine-Thomas syndrome|WADIA-swami syndrome|OPCA											DOID:14784|NCIT:C84947|MESH:D009849|ICD10:G23.8|UMLS:C0028968|SCTID:67761004|GARD:0007250|ICD9:333.0																		owl:Class
MONDO:0005559	biolink:NamedThing	neurodegenerative disease	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.	mondoexuq1wtf	brain degeneration|neurodegenerative disease|degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|central nervous system degenerative disorder|degenerative disease|cerebral degeneration disease					Editor notes: DO treats this as two diseases						MESH:D019636|NCIT:C4802|EFO:0005772|DOID:1289|ICD10:G31.9|ICD9:349.89|SCTID:80690008																		owl:Class
MONDO:0000241	biolink:NamedThing	Keshan disease	A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.	mondoexuq1wtf	coxsackievirus infectious disease|enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency											SCTID:46939000|UMLS:C0268095|ICD9:269.3|MESH:C536166|UMLS:C0010246|EFO:0007226|DOID:0050083|MESH:D003384|GARD:0008761														https://rarediseases.info.nih.gov/diseases/8761/keshan-disease				owl:Class
MONDO:0006873	biolink:NamedThing	nutritional deficiency disease	A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)	mondoexuq1wtf	malnutrition|malnourished											NCIT:C3669|DOID:5113|ICD9:269.8|ICD10:E40.E46|SCTID:363246002|MESH:D003677|EFO:1001067|SCTID:70241007|ICD9:269.9|MedDRA:10046058																		owl:Class
MONDO:0018639	biolink:NamedThing	caudal regression-sirenomelia spectrum	Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.	mondoexuq1wtf												Orphanet:444941																		owl:Class
MONDO:0019054	biolink:NamedThing	congenital limb malformation		mondoexuq1wtf												Orphanet:68378																		owl:Class
MONDO:0009096	biolink:NamedThing	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.	mondoexuq1wtf	autosomal dominant leukoencephalopathy with neuroaxonal spheroids|FPSG|leukoencephalopathy, diffuse hereditary, with spheroids|GPSC|hereditary diffuse leukoencephalopathy with axonal spheroids|adult-onset leukodystrophy with neuroaxonal spheroids|POLD|HDLS|subcortical gliosis of Neumann|familial progressive subcortical gliosis|gliosis, familial progressive subcortical|familial dementia, Neumann type|hereditary diffuse leukoencephalopathy with spheroids|neuroaxonal leukodystrophy|dementia, familial, Neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pigmentary orthochromatic leukodystrophy|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|leukoencephalopathy, hereditary diffuse, with spheroids|ALSP											Orphanet:313808|OMIM:221820|ICD9:323.81|GARD:0010981|NCIT:C153289|SCTID:702427005|ICD10:E75.2|UMLS:C3711381|DOID:0080523|MESH:C580150																		owl:Class
MONDO:0005461	biolink:NamedThing	endometrium adenocarcinoma	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.	mondoexuq1wtf	endometrial adenocarcinoma|adenocarcinoma, endometrial, malignant|adenocarcinoma of uterus|endometrial adenoacanthoma|endometrioid adenoma or carcinoma|endometrioid carcinoma of endometrium|adenocarcinoma of the endometrium|adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma with squamous differentiation|endometrium adenocarcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|endometrioid adenomas and carcinomas|endometrial endometrioid adenocarcinoma|endometrioid adenoma or carcinoma NOS (morphologic abnormality)											EFO:0005232|DOID:2870|UMLS:C0279763|UMLS:C1153706|NCIT:C7359																		owl:Class
MONDO:0002447	biolink:NamedThing	endometrial carcinoma	A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.	mondoexuq1wtf	endometrial carcinoma (disease)|endometrial cancer|carcinoma of the endometrium|endometrial carcinoma|endometrium carcinoma|carcinoma of endometrium|carcinoma, endometrial, malignant		endometrial carcinoma (disease)									UMLS:C0476089|ONCOTREE:UCEC|HP:0012114|DOID:2871|SCTID:254878006|NCIT:C7558																		owl:Class
MONDO:0005484	biolink:NamedThing	colorectal adenoma	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	mondoexuq1wtf	adenoma of the large intestine|colorectum adenoma|colorectal adenoma|adenoma of the large bowel|adenoma of large intestine|adenoma of large bowel|large intestine adenoma|large bowel adenoma										MONDO:0000529	DOID:0050860|DOID:0050914|EFO:0005406|NCIT:C5673|SCTID:399432003|UMLS:C1302401																		owl:Class
MONDO:0014416	biolink:NamedThing	ACTH-independent macronodular adrenal hyperplasia 2	Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.	mondoexuq1wtf	AIMAH2|ACTH-independent macronodular adrenal hyperplasia 2|primary macronodular adrenal hyperplasia|ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|ACTH-independent macronodular adrenal hyperplasia type 2											UMLS:C4014803|OMIM:615954|DOID:0111624																		owl:Class
MONDO:0009049	biolink:NamedThing	Cushing syndrome due to macronodular adrenal hyperplasia	ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.	mondoexuq1wtf	corticotropin-independent macronodular adrenal hyperplasia|MMAD|primary bilateral macronodular adrenal hyperplasia|AIMAH|ACTH-independent Cushing syndrome|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease|ACTH-independent macronodular adrenocortical hyperplasia|primary macronodular adrenal hyperplasia											MESH:C565662|ICD10:E24.8|UMLS:CN200644|Orphanet:189427|GARD:0010824|SCTID:720459002|UMLS:C2062388														https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia				owl:Class
MONDO:0008649	biolink:NamedThing	venular insufficiency, systemic		mondoexuq1wtf	venular insufficiency, systemic											MESH:C566004|UMLS:C1860465|OMIM:192700																		owl:Class
MONDO:0004112	biolink:NamedThing	radiation cystitis	Inflammation of the bladder due to irradiation.	mondoexuq1wtf	irradiation cystitis											ICD10:N30.4|UMLS:C0156270|ICD9:595.82|NCIT:C123174|SCTID:11251000|COHD:201353|DOID:7127																		owl:Class
MONDO:0006032	biolink:NamedThing	cystitis	Inflammation of the urinary bladder.	mondoexuq1wtf	urinary bladder inflammation|bladder infection|inflammation of urinary bladder											ICD9:595|ICD10:N30|MESH:D003556|DOID:1679|COHD:195588|ICD9:595.9|EFO:1000025|ICD9:595.89|NCIT:C26738|SCTID:38822007|ICD10:N30.9|UMLS:C0010692																		owl:Class
MONDO:0044788	biolink:NamedThing	perihilar intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.	mondoexuq1wtf	perihilar ICC|perihilar bile duct carcinoma|perihilar cholangiocarcinoma|perihilar intrahepatic cholangiocarcinoma											ONCOTREE:PHCH|NCIT:C96804																		owl:Class
MONDO:0003210	biolink:NamedThing	intrahepatic cholangiocarcinoma	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	mondoexuq1wtf	intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma (bile duct cancer)|IHCH|intrahepatic carcinoma of the bile duct|ICC|peripheral cholangiocarcinoma|intrahepatic carcinoma of bile duct|intrahepatic Cholangiocellular carcinoma|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct carcinoma											DOID:4928|EFO:1001961|NCIT:C35417|COHD:4001664|SCTID:109842005|UMLS:C0345905|ONCOTREE:IHCH|GARD:0006042|ICD10:C22.1														https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma				owl:Class
MONDO:0020831	biolink:NamedThing	congenital vertebral-cardiac-renal anomalies syndrome		mondoexuq1wtf	vertebral, cardiac, renal, and limb defects syndrome|VCRL											OMIMPS:617660|Orphanet:521438																		owl:Class
MONDO:0009516	biolink:NamedThing	absence deformity of leg-cataract syndrome	Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	mondoexuq1wtf	leg, absence deformity of, with congenital cataract											UMLS:C1855523|Orphanet:2310|OMIM:246000|MESH:C565442																		owl:Class
MONDO:0013299	biolink:NamedThing	chromosome 6q11-q14 deletion syndrome		mondoexuq1wtf	chromosome 6Q13-q14 deletion syndrome|chromosome 6q11-q14 deletion syndrome											DOID:0060423|OMIM:613544|UMLS:C3150790																		owl:Class
MONDO:0013863	biolink:NamedThing	combined immunodeficiency due to LRBA deficiency		mondoexuq1wtf	Cid due to LRBA deficiency|CVID8|immunodeficiency, common variable, 8, with autoimmunity											OMIM:614700|UMLS:C3553512|ICD10:D81.8|Orphanet:445018																		owl:Class
MONDO:0015517	biolink:NamedThing	common variable immunodeficiency	Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.	mondoexuq1wtf	secondary hypogammaglobulinemia|acquired agammaglobulinemia|hypogamma-globulinemia, acquired|primary antibody deficiency|common variable agammaglobulinemia|common variable hypogamma-globulinemia|CVID|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia|common variable immune deficiency|sporadic hypogammaglobulinemia|Immunoglobulin deficiency, late-onset|acquired hypogammaglobulinemia											ICD10:D83.8|Orphanet:1572|NCIT:C26725|MESH:D017074|ICD10:D83.1|COHD:435228|SCTID:23238000|ICD9:279.06|GARD:0006140|ICD10:D83|DOID:12177|MedDRA:10021449|ICD10:D83.0|OMIMPS:607594|UMLS:C0009447|ICD10:D83.9|ICD10:D83.2																		owl:Class
MONDO:0017779	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.	mondoexuq1wtf	NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity|alpha-N-acetylgalactosaminidase activity disease|Schindler disease											SCTID:238048001|Orphanet:3137|ICD10:E77.1|ICD9:277.89																		owl:Class
MONDO:0016397	biolink:NamedThing	lysosomal disease with epilepsy		mondoexuq1wtf												UMLS:CN201328|Orphanet:225681																		owl:Class
MONDO:0003764	biolink:NamedThing	pediatric leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.	mondoexuq1wtf	pediatric meningeal melanoma|childhood meningeal melanoma|childhood leptomeningeal melanoma											DOID:6089|NCIT:C5318|UMLS:C1332976																		owl:Class
MONDO:0003761	biolink:NamedThing	leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes.	mondoexuq1wtf	leptomeningeal melanoma|meningeal melanoma|melanoma of the leptomeninges|leptomeninx melanoma|malignant melanoma of meninges|melanoma (disease) of leptomeninx|melanoma of leptomeninges|leptomeninx melanoma (disease)					Editor note: TODO check meninx vs leptomeninges						NCIT:C5317|SCTID:277530005|DOID:6085|UMLS:C1334386																		owl:Class
MONDO:0005231	biolink:NamedThing	hepatitis C virus infection	A viral infection caused by the hepatitis C virus.	mondoexuq1wtf	hepatitis C infection|NANBH|chronic hepatitis C|Hepatitis C virus hepatitis|non-A, non-B Hepatitis|Hepatitis C virus caused hepatitis|hepatitis type C|hepatitis Nona nonB|viral hepatitis C											NCIT:C3098|ICD9:070.7|ICD10:B19.2|DOID:1883|MESH:D006526|ICD10:B19.20|ICD9:070.41|SCTID:128302006|UMLS:C0019196|ICD9:070.54|EFO:0003047																		owl:Class
MONDO:0006011	biolink:NamedThing	viral hepatitis	An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.	mondoexuq1wtf	human viral hepatitis|Viruses hepatitis|viral human hepatitis|Hepatitis viral|unspecified viral hepatitis with hepatic coma|viral hepatitis with hepatic coma|viral Hepatitis|Viruses caused hepatitis					Editor note: consider adding term for viral						MESH:D006524|ICD9:573.1|SCTID:3738000|COHD:4291005|ICD10:B15.B19|UMLS:C0042721|UMLS:C0019194|NCIT:C35124|MESH:D006525|EFO:0004196|DOID:1884								animal viral hepatitis										owl:Class
MONDO:0003885	biolink:NamedThing	colorectal lipoma	A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.	mondoexuq1wtf	colorectal lipoma|large intestine lipoma|lipoma of the large intestine|lipoma of large intestine|lipoma of the large bowel|large bowel lipoma|lipoma of large bowel											UMLS:C1333114|NCIT:C5678|DOID:6460																		owl:Class
MONDO:0021444	biolink:NamedThing	benign neoplasm of large intestine	A benign neoplasm that involves the large intestine.	mondoexuq1wtf	benign large intestine tumor|benign large bowel tumor|colorectal tumors, benign|benign colorectal tumors|benign neoplasm of the large bowel|neoplasms, colorectal, benign|benign neoplasm of large bowel|benign colorectal tumor|benign colorectal neoplasm|tumors, colorectal, benign|benign tumor of the large intestine|benign colorectal neoplasms|benign large bowel neoplasm|benign neoplasm of the large intestine|benign tumor of large intestine|benign large intestine neoplasm|colorectal neoplasms, benign|large intestine benign neoplasm|benign tumor of large bowel|benign tumor of the large bowel											NCIT:C4610|UMLS:C0347272|SCTID:92170008																		owl:Class
MONDO:0022889	biolink:NamedThing	craniostenosis with congenital heart disease intellectual disability		mondoexuq1wtf												GARD:0001585														https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation				owl:Class
MONDO:0007078	biolink:NamedThing	pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).	mondoexuq1wtf	Albright's hereditary osteodystrophy|AHO-PHP syndrome Ia|pseudohypoparathyroidism type 1A|Albright hereditary osteodystrophy with multiple hormone resistance|AHO|PHP 1A|pseudohypoparathyroidism, type IA|PHP1A|pseudohypoparathyroidism, type 1A|Albright hereditary osteodystrophy|Albright hereditary osteodystrophy-PHP syndrome Ia											OMIM:103580|NCIT:C129721|SCTID:58833000|UMLS:C3494506|UMLS:C2931404|DOID:0080053|GARD:0005770|ICD10:E20.1|GARD:0007486|MESH:C537045|Orphanet:79443|ICD9:275.49																		owl:Class
MONDO:0008427	biolink:NamedThing	sister chromatid exchange, frequency of		mondoexuq1wtf	sister chromatid exchange, frequency of|SCE, frequency of											OMIM:182220																		owl:Class
MONDO:0004779	biolink:NamedThing	epididymitis	Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.	mondoexuq1wtf	epididymitis (disease)|epididymis|epididymal|epididymitis		epididymitis (disease)									MESH:D004823|HP:0000031|UMLS:C0014534|SCTID:31070006|DOID:9402|NCIT:C12328|ICD10:N45.1																		owl:Class
MONDO:0006639	biolink:NamedThing	adrenal cortex carcinoma	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	mondoexuq1wtf	adrenocortical carcinoma (disease)|adrenocortical cancer|adrenocortical carcinoma|adrenal cortical tumors|adrenal cortical carcinoma|adrenal cortex adenocarcinoma|malignant adrenocortical tumor|cancer of the adrenal cortex|ACC|carcinoma, adrenocortical, malignant|adrenal cortex carcinoma|adrenal cortical adenocarcinoma|carcinoma of adrenal cortex|carcinoma of the adrenal cortex|cortical cell carcinoma|malignant neoplasm of adrenal cortex|malignant tumour of adrenal cortex|adrenal cortical carcinoma (morphologic abnormality)|adrenal cortex cancer|adenocarcinoma, adrenocortical, malignant											Orphanet:1501|HP:0006744|SCTID:255035007|DOID:3948|ONCOTREE:ACC|UMLS:C0206686|ICDO:8370/3|MedDRA:10001388|GARD:0000558|EFO:1000796|ICD10:C74.0|NCIT:C9325|DOID:3959|DOID:660																		owl:Class
MONDO:0015077	biolink:NamedThing	adrenal/paraganglial tumor		mondoexuq1wtf						Editor note: consider merging						UMLS:CN197370|Orphanet:100091																		owl:Class
MONDO:0032622	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 17		mondoexuq1wtf	MC1DN17|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17											OMIM:618239																		owl:Class
MONDO:0100223	biolink:NamedThing	mitochondrial complex I deficiency, nuclear type		mondoexuq1wtf						Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042		http://orcid.org/0000-0001-5208-3432				OMIMPS:252010																		owl:Class
MONDO:0000964	biolink:NamedThing	skin lipoma	A benign or malignant adipose tissue neoplasm of the skin.	mondoexuq1wtf	lipoma of zone of skin|lipoma of the skin|cutaneous lipoma|skin lipoma|lipoma of face|lipoma of skin|zone of skin lipoma|cutaneous lipomatous tumor											NCIT:C4616|ICD9:214.1|SCTID:255187008|ICD9:214.0|DOID:10188																		owl:Class
MONDO:0021440	biolink:NamedThing	benign neoplasm of skin	A benign neoplasm that involves the zone of skin.	mondoexuq1wtf	zone of skin benign neoplasm|benign tumor of skin|benign skin neoplasm|benign cutaneous tumor|benign cutaneous neoplasm|benign neoplasm of the skin|skin neoplasms, benign|benign skin tumor|benign tumor of the skin											ICD9:216.8|UMLS:C0004998|NCIT:C2896|ICD9:216.9|SCTID:92384009																		owl:Class
MONDO:0002744	biolink:NamedThing	fallopian tube mucinous adenocarcinoma	An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.	mondoexuq1wtf	fallopian tube mucinous adenocarcinoma											UMLS:C1517119|DOID:3704|NCIT:C40103																		owl:Class
MONDO:0002746	biolink:NamedThing	fallopian tube adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the fallopian tube	mondoexuq1wtf	adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma|adenocarcinoma of the fallopian tube											UMLS:C1333590|DOID:3706|NCIT:C6265																		owl:Class
MONDO:0012035	biolink:NamedThing	craniosynostosis-intracranial calcifications syndrome	Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	mondoexuq1wtf	Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism											Orphanet:52054|ICD10:Q87.0|MESH:C564241|SCTID:720816004|OMIM:608432|UMLS:C1842058																		owl:Class
MONDO:0012513	biolink:NamedThing	maturity-onset diabetes of the young type 7	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.	mondoexuq1wtf	maturity-onset diabetes of the young, type 7|MODY KLF11 related|KLF11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in KLF11|type 7 maturity-onset diabetes of the young|MODY type 7|diabetes mellitus MODY type 7|MODY7											UMLS:C1864839|DOID:0111106|OMIM:610508|SCTID:609574004|MESH:C566466|GARD:0010661														https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7				owl:Class
MONDO:0018911	biolink:NamedThing	maturity-onset diabetes of the young	MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.	mondoexuq1wtf	maturity onset diabetes of the young|maturity-onset diabetes of the young|MODY|Mason type diabetes|Mason-type diabetes|maturity-onset diabetes of the young (disease)		maturity-onset diabetes of the young (disease)									ICD10:E11.8|MESH:C562772|HP:0004904|GARD:0003697|SCTID:609561005|UMLS:C0342276|DOID:0050524|ICD10:E11.9|OMIM:606391|Orphanet:552|KEGG:04950|NCIT:C114769																		owl:Class
MONDO:0007987	biolink:NamedThing	Kniest dysplasia	Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).	mondoexuq1wtf	Kniest dysplasia											ICD10:Q77.7|Orphanet:485|ICD9:756.9|OMIM:156550|DOID:0080045|SCTID:53974002|GARD:0006841|UMLS:C0265279|NCIT:C125594|MESH:C537207														https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia				owl:Class
MONDO:0015318	biolink:NamedThing	Pierre Robin syndrome associated with collagen disease		mondoexuq1wtf	Pierre Robin sequence associated with collagen disease											Orphanet:138041|UMLS:CN199289														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0007251	biolink:NamedThing	campomelic dysplasia	Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).	mondoexuq1wtf	campomelic dysplasia|Cmd1|Cmpd1/Sra1|campomelic dysplasia with autosomal Sex reversal|CMPD1|camptomelic dysplasia|Cmpd|acampomelic campomelic dysplasia|CMD|acampomelic campomelic dysplasia with autosomal Sex reversal|campomelic dwarfism					Editor note: consider adding grouping class for related disorders						SCTID:74928006|UMLS:C1861923|DOID:0050463|OMIM:114290|UMLS:C1861922|GARD:0010027|ICD9:733.29|NCIT:C84609|MESH:D055036|ICD10:Q87.1|Orphanet:140																		owl:Class
MONDO:0020042	biolink:NamedThing	syndrome with 46,XY disorder of sex development		mondoexuq1wtf	syndrome with 46,XY DSD											UMLS:CN206965|Orphanet:98087																		owl:Class
MONDO:0004523	biolink:NamedThing	clear cell squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent clear cell component.	mondoexuq1wtf	clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of the skin|clear cell squamous cell carcinoma of skin											NCIT:C4459|UMLS:C0345978|DOID:8288|SCTID:254652000																		owl:Class
MONDO:0002529	biolink:NamedThing	skin squamous cell carcinoma	A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.	mondoexuq1wtf	squamous cell carcinoma - skin|squamous cell skin carcinoma|epidermoid carcinoma of skin|zone of skin squamous cell carcinoma|CSCC|squamous cell carcinoma of skin|skin squamous cell cancer|squamous cell carcinoma of the skin|skin squamous cell carcinoma|epidermoid skin carcinoma|cutaneous squamous cell carcinoma|epidermoid carcinoma of the skin											DOID:3151|NCIT:C4819|EFO:1001927|COHD:4111921|SCTID:254651007|ONCOTREE:CSCC|UMLS:C0553723																		owl:Class
MONDO:0008323	biolink:NamedThing	Liddle syndrome	Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.	mondoexuq1wtf	pseudohyperaldosteronism type 1|Liddle syndrome|LIDLS|Liddle's syndrome|pseudoaldosteronism											DOID:0050477|MESH:D056929|GARD:0007381|ICD10:I15.1|SCTID:707747007|OMIMPS:177200|MedDRA:10052313|MedDRA:10037113|UMLS:C0221043|Orphanet:526|NCIT:C84827														https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome				owl:Class
MONDO:0015512	biolink:NamedThing	genetic hypertension	An instance of hypertension that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic hypertensive disorder|genetic hypertension											Orphanet:156629|UMLS:C0598428																		owl:Class
MONDO:0014449	biolink:NamedThing	congenital analbuminemia	Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	mondoexuq1wtf	analbuminemia|ANALBA											GARD:0013056|OMIM:616000|ICD10:R77.0|SCTID:718721006|NCIT:C124851|UMLS:C4305253|Orphanet:86816														https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia				owl:Class
MONDO:0020469	biolink:NamedThing	48,XYYY syndrome	48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	mondoexuq1wtf	48,XYYY											ICD10:Q98.8|Orphanet:99329|UMLS:C4518082|SCTID:733625003|GARD:0011985|UMLS:CN207331																		owl:Class
MONDO:0019924	biolink:NamedThing	paternal uniparental disomy of chromosome 20	Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	mondoexuq1wtf	paternal UPD20|UPD(20)pat|paternal uniparental disomy of chromosome type 20|paternal UPD(20)											Orphanet:96194|SCTID:715736008|UMLS:C4275028|ICD10:Q99.8																		owl:Class
MONDO:0700086	biolink:NamedThing	uniparental disomy	A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153				NCIT:C85215																		owl:Class
MONDO:0017799	biolink:NamedThing	Meigs syndrome	A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.	mondoexuq1wtf	Demons-Meigs syndrome|Meigs' syndrome											MESH:D008539|MedDRA:10027139|SCTID:63402005|UMLS:C0025184|ICD10:D27|Orphanet:314451|ICD9:629.89|NCIT:C3223																		owl:Class
MONDO:0011512	biolink:NamedThing	Brooke-Spiegler syndrome	Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.	mondoexuq1wtf	Spiegler-Brooke syndrome|CYLD cutaneous syndrome|Bss|Brooke-Spiegler syndrome|BRSS					Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728						Orphanet:79493|GARD:0010179|ICD9:239.2|DOID:0050693|SCTID:703531009|UMLS:C1857941|OMIM:605041																		owl:Class
MONDO:0015950	biolink:NamedThing	inherited skin tumor		mondoexuq1wtf	genetic skin tumor											Orphanet:183487|UMLS:CN200547																		owl:Class
MONDO:0009093	biolink:NamedThing	dermatoleukodystrophy	Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	mondoexuq1wtf	Dermatoleukodystrophy											OMIM:221790|ICD10:E75.2|MESH:C538220|UMLS:C1857314|Orphanet:1659|SCTID:733044009|GARD:0001813														https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy				owl:Class
MONDO:0012090	biolink:NamedThing	autosomal dominant nonsyndromic deafness 47	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.	mondoexuq1wtf	autosomal dominant deafness 47|autosomal dominant nonsyndromic deafness type 47|DFNA47|deafness, autosomal dominant 47											UMLS:C1837609|ICD10:H90.3|OMIM:608652|MESH:C563885|DOID:0110570																		owl:Class
MONDO:0000670	biolink:NamedThing	cortical deafness	An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.	mondoexuq1wtf												DOID:0060140|UMLS:C0392704																		owl:Class
MONDO:0000667	biolink:NamedThing	auditory agnosia	An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.	mondoexuq1wtf												DOID:0060137																		owl:Class
MONDO:0016127	biolink:NamedThing	bacterial myositis		mondoexuq1wtf												SCTID:30330001|ICD10:M60.0|Orphanet:206994																		owl:Class
MONDO:0005113	biolink:NamedThing	bacterial infectious disease	An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.	mondoexuq1wtf	bacterial infectious disease|Bacteria caused disease or disorder|bacterial disease|infection, bacterial|bacterial disorder|bacterial infection|Bacteria infectious disease|infections, bacterial|Bacteria disease or disorder											UMLS:C0004623|SCTID:87628006|ICD9:041.89|ICD9:041.9|DOID:104|NCIT:C2890|MESH:D001424|COHD:432545|ICD10:A49.9|ICD9:040.89|EFO:0000771|ICD10:A49																		owl:Class
MONDO:0043240	biolink:NamedThing	hemophilic arthropathy	A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.	mondoexuq1wtf	arthropathy in hemophilia|hemophilic arthropathy|hemophilic arthritis											SCTID:80813006|UMLS:C0263725|GARD:0006592|NCIT:C27039																		owl:Class
MONDO:0005578	biolink:NamedThing	arthritic joint disease	An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.	mondoexuq1wtf	skeletal joint inflammation|inflammatory disorder of joint|arthritis|inflammation of skeletal joint					Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory.						ICD10:M19.90|SCTID:3723001|DOID:848|NCIT:C2883|MESH:D001168|Wikipedia:Arthritis|UMLS:C0003864|EFO:0005856|COHD:4291025																		owl:Class
MONDO:0008794	biolink:NamedThing	anhidrosis, familial generalized, with abnormal or absent sweat glands		mondoexuq1wtf	anhidrosis, familial generalized, with abnormal or absent sweat glands											OMIM:206600|UMLS:C4225670																		owl:Class
MONDO:0004387	biolink:NamedThing	luteoma of pregnancy	A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.	mondoexuq1wtf	luteoma|leuteoma of pregnancy											UMLS:C1517842|DOID:7880|MESH:D018311|UMLS:C0024167|NCIT:C40445																		owl:Class
MONDO:0010886	biolink:NamedThing	2q37 microdeletion syndrome	Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.	mondoexuq1wtf	BDMR|brachydactyly-intellectual disability syndrome|chromosome 2q37 deletion syndrome|monosomy 2q37-qter|brachydactyly-mental retardation syndrome|Del(2)(q37)|2q37 deletion syndrome|Albright hereditary osteodystrophy type 3|deletion 2q37-qter|brachydactyly intellectual disability syndrome|deletion 2q37|brachydactyly mental retardation syndrome|Albright hereditary osteodystrophy-like syndrome											ICD10:Q93.5|Orphanet:1001|UMLS:C2931817|NCIT:C129021|ICD9:758.39|GARD:0010202|SCTID:702357000|OMIM:600430|DOID:0111704|MESH:C538317																		owl:Class
MONDO:0024257	biolink:NamedThing	hereditary motor neuron disease	An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary motor neuron disease|genetic anterior horn cell disease|genetic motor neuron disease											UMLS:CN207018|Orphanet:98505|SCTID:49793008																		owl:Class
MONDO:0024237	biolink:NamedThing	inherited neurodegenerative disorder	An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.	mondoexuq1wtf	hereditary neurodegenerative disease|hereditary neurodegenerative disorder|genetic neurodegenerative disease											NCIT:C97073|UMLS:C3273225|Orphanet:183500|UMLS:CN200549|MESH:D020271																		owl:Class
MONDO:0013295	biolink:NamedThing	atopic dermatitis 9	An atopic dermatitis associated with variation in the region 3p24.	mondoexuq1wtf	ATOD9|dermatitis, ATOPIC, 9|atopic dermatitis type 9											OMIM:613519|UMLS:C3150764|DOID:0110105																		owl:Class
MONDO:0004980	biolink:NamedThing	atopic eczema	A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.	mondoexuq1wtf	atopic eczema|allergic dermatitis|eczema|allergic|eczematous dermatitis|allergic form of dermatitis|Atopic dermatitis|Atopic neurodermatitis|Besnier's prurigo											DOID:3310|ICD9:691|EFO:0000274|NCIT:C3001|ICD10:L20.9|ICD10:L20.81|OMIMPS:603165|ICD10:L20|ICD9:691.8																		owl:Class
MONDO:0016833	biolink:NamedThing	14q12 microdeletion syndrome	14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.	mondoexuq1wtf	monosomy 14q12|Del(14)(q12)											UMLS:CN202163|ICD10:Q93.5|SCTID:719574007|Orphanet:261144|UMLS:C4305240																		owl:Class
MONDO:0016912	biolink:NamedThing	partial deletion of the long arm of chromosome 14	Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.	mondoexuq1wtf	partial monosomy 14q|14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|monosomy 14q|partial deletion of the long arm of chromosome type 14|chromosome 14q deletion|deletion 14q|14q monosomy|partial deletion of chromosome 14q											ICD10:Q93.5|GARD:0003722|Orphanet:262110																		owl:Class
MONDO:0009820	biolink:NamedThing	osteoporosis-pseudoglioma syndrome	Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.	mondoexuq1wtf	osteoporosis pseudoglioma syndrome|ocular form of osteogenesis imperfecta|osteogenesis imperfecta ocular form|pseudoglioma with bone fragility|osteoporosis-pseudoglioma syndrome|Ops|osteogenesis imperfecta, ocular form|OPPG											GARD:0004160|DOID:0060849|UMLS:C0432252|MESH:C536063|NCIT:C130998|Orphanet:2788|OMIM:259770|MedDRA:10052452|ICD10:Q87.5														https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome				owl:Class
MONDO:0010799	biolink:NamedThing	aminoglycoside-induced deafness		mondoexuq1wtf	mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|deafness, streptomycin-induced|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|streptomycin ototoxicity|deafness, aminoglycoside-induced											Orphanet:168609|DOID:0111734|MESH:C564013|UMLS:C1838854|OMIM:580000																		owl:Class
MONDO:0016793	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA		mondoexuq1wtf	OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA|mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA											UMLS:CN202050|Orphanet:254776																		owl:Class
MONDO:0019448	biolink:NamedThing	benign adult familial myoclonic epilepsy	Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.	mondoexuq1wtf	ADCME|BAFME|FAME|FCMTE|autosomal dominant cortical myoclonus and epilepsy|familial adult myoclonic epilepsy|familial cortical myoclonic tremor and epilepsy|benign adult familial myoclonus epilepsy											UMLS:CN206220|UMLS:C4273988|ICD10:G40.3|Orphanet:86814|SCTID:717225001																		owl:Class
MONDO:0000160	biolink:NamedThing	epilepsy, familial adult myoclonic		mondoexuq1wtf												DC:0000624|DOID:0111689|OMIMPS:601068																		owl:Class
MONDO:0006015	biolink:NamedThing	Waterhouse-Friderichsen syndrome	A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.	mondoexuq1wtf	meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|Waterhouse–Friderichsen syndrome|WFS											SCTID:36102002|UMLS:C0043068|ICD10:E35.1*|ICD9:036.3|GARD:0009449|Orphanet:100067|ICD10:A39.1+|MESH:D014884|NCIT:C85225|ICD10:A39.1|MedDRA:10047847|DOID:9931|EFO:0007544																		owl:Class
MONDO:0021908	biolink:NamedThing	aplasia cutis congenita dominant	Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.	mondoexuq1wtf												GARD:0000751														https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant				owl:Class
MONDO:0007145	biolink:NamedThing	aplasia cutis congenita	Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.	mondoexuq1wtf	aplasia cutis congenita recessive|aplasia cutis congenita (disease)|aplasia cutis congenita|congenital defect of skull and scalp|ACC|aplasia cutis congenita nonsyndromic|scalp defect, congenital|scalp defect congenital|aplasia cutis congenita, nonsyndromic		aplasia cutis congenita (disease)									OMIM:107600|ICD9:757.39|SCTID:35484002|Orphanet:1114|GARD:0005835|NCIT:C98822|HP:0001057|ICD10:Q84.8|GARD:0000755																		owl:Class
MONDO:0013365	biolink:NamedThing	autosomal recessive nonsyndromic deafness 83	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 83|deafness, autosomal recessive 83|autosomal recessive deafness 83|DFNB83											ICD10:H90.3|OMIM:613685|DOID:0110528																		owl:Class
MONDO:0005567	biolink:NamedThing	substance withdrawal syndrome	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.	mondoexuq1wtf	substance withdrawal|substance withdrawal disorder|drug withdrawal|substance withdrawal syndrome|withdrawal syndrome|withdrawal disorder|drug withdrawal syndrome											DOID:0060001|UMLS:C0152128|NCIT:C35046|EFO:0005800|MESH:D013375|ICD9:292.0|SCTID:363101005																		owl:Class
MONDO:0006396	biolink:NamedThing	rectal villous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	rectal villous adenoma|rectum villous adenoma|villous adenoma of the rectum|villous adenoma of rectum											EFO:1000506|NCIT:C4919|UMLS:C0730199|SCTID:312823001																		owl:Class
MONDO:0000502	biolink:NamedThing	villous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.	mondoexuq1wtf	villous adenoma											UMLS:C0206674|MESH:D018253|DOID:0050869|NCIT:C7399|ICDO:8261/0																		owl:Class
MONDO:0014378	biolink:NamedThing	primary ciliary dyskinesia 29	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 29|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO|ciliary dyskinesia, primary, type 29|primary ciliary dyskinesia type 29|CCNO primary ciliary dyskinesia|ciliary dyskinesia, primary, 29, without situs inversus|CILD29											OMIM:615872|ICD10:Q34.8|UMLS:C4014534|DOID:0110600																		owl:Class
MONDO:0016575	biolink:NamedThing	primary ciliary dyskinesia	Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).	mondoexuq1wtf	kartageners syndrome|PCD|bronchiectasis, chronic sinusitis and dextrocardia syndrome|ciliary dyskinesia primary|ciliary motility disorder|Kartagener syndrome|Primary ciliary dyskinesia and situs inversus|Dextrocardia bronchiectasis and sinusitis|Primary ciliary dyskinesia, Kartagener type|Immotile cilia syndrome, Kartagener type|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|ICS|Kartagener's syndrome					Editor note: we deliberately merge two MESHes here						Orphanet:244|SCTID:86204009|NCIT:C84797|GARD:0006815|ICD10:Q34.8|DOID:9562|DOID:0050144|SCTID:42402006|UMLS:C0008780|MESH:D007619|OMIMPS:244400|MESH:D002925|MedDRA:10069713|GARD:0004484																		owl:Class
MONDO:0016674	biolink:NamedThing	46,XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.	mondoexuq1wtf	46,XY partial testicular dysgenesis|46,XY PGD					Editor note: todo - make disjoint with complete form (some classes inherit from both)						ICD10:Q56.1|SCTID:725045004|UMLS:C4510744|Orphanet:251510																		owl:Class
MONDO:0017764	biolink:NamedThing	disorder of zinc metabolism		mondoexuq1wtf	disorder of zinc metabolism and transport											ICD10:E83.2|Orphanet:309845|MedDRA:10048260|ICD9:275.8|SCTID:46727001																		owl:Class
MONDO:0003988	biolink:NamedThing	sternum lymphoma	A rare lymphoma that arises from the bone or soft tissue of the sternum.	mondoexuq1wtf	lymphoma of the sternum|sternum lymphoma|primary sternal lymphoma|sternal lymphoma|lymphoma of sternum											NCIT:C6716|DOID:6762|UMLS:C1336504																		owl:Class
MONDO:0017814	biolink:NamedThing	primary bone lymphoma	A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.	mondoexuq1wtf	lymphoma of the bone|primary lymphoma of bone|lymphoma of bone tissue|bone lymphoma|lymphoma of bone|primary lymphoma of the bone|bone tissue lymphoma										MONDO:0003986	UMLS:C1332582|Orphanet:314684|SCTID:766935007|NCIT:C6620|ICD10:C85.7|DOID:6759|ICD10:C85,7																		owl:Class
MONDO:0018014	biolink:NamedThing	transient neonatal multiple acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	mondoexuq1wtf	transient neonatal glutaric aciduria type 2|transient neonatal MADD|transient neonatal MAD deficiency|transient neonatal glutaric acidemia type 2											SCTID:723552005|ICD10:E71.3|Orphanet:329942|UMLS:CN204228																		owl:Class
MONDO:0017714	biolink:NamedThing	acyl-CoA dehydrogenase deficiency		mondoexuq1wtf												Orphanet:309120|SCTID:82319005|UMLS:C0268635|ICD10:E71.3																		owl:Class
MONDO:0007781	biolink:NamedThing	essential hypertension, genetic	An instance of essential hypertension that is caused by a modification of the individual's genome.	mondoexuq1wtf	hypertension, essential|Eht|genetic essential hypertension											OMIM:145500																		owl:Class
MONDO:0000521	biolink:NamedThing	salivary gland carcinoma	A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.	mondoexuq1wtf	saliva-secreting gland carcinoma|salivary gland carcinoma|carcinoma of the salivary gland|salivary carcinoma|carcinoma of salivary gland|carcinoma of saliva-secreting gland|salivary gland cancer											UMLS:C0948750|NCIT:C9272|ONCOTREE:SACA|DOID:0050904																		owl:Class
MONDO:0004669	biolink:NamedThing	salivary gland cancer	A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant neoplasm of the salivary gland|malignant salivary gland tumor|cancer of saliva-secreting gland|cancer of salivary gland|malignant neoplasm of saliva-secreting gland|salivary gland cancer|cancer of the salivary gland|malignant tumor of salivary gland|malignant neoplasm of salivary gland|malignant saliva-secreting gland neoplasm|saliva-secreting gland cancer|malignant salivary gland neoplasm|malignant neoplasm of salivary gland duct|malignant neoplasm of major salivary gland|malignant tumor of the salivary gland											DOID:8850|SCTID:255072001|MESH:D012468|ICD10:C08|COHD:4181333|ICD9:142.8|NCIT:C3811																		owl:Class
MONDO:0000226	biolink:NamedThing	mineral metabolism disease		mondoexuq1wtf	disorder of mineral metabolism|disease of mineral metabolism											ICD10:E83|ICD9:275.9|SCTID:45744005|ICD9:275.8																		owl:Class
MONDO:0001143	biolink:NamedThing	paralytic strabismus		mondoexuq1wtf	paralytic squint|incomitant dissociation											DOID:10863|ICD10:H49.9|SCTID:400942002|ICD10:H49|HP:0031775|UMLS:C0152221|ICD9:378.5|ICD9:378.50|COHD:381862																		owl:Class
MONDO:0003432	biolink:NamedThing	strabismus	Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.	mondoexuq1wtf	strabismus|squint											COHD:4329707|ICD9:378.7|ICD9:378.40|NCIT:C35040|UMLS:C0038379|ICD10:H50.89|SCTID:22066006|ICD10:H50.8|DOID:540																		owl:Class
MONDO:0021096	biolink:NamedThing	papillary epithelial neoplasm		mondoexuq1wtf	papillary epithelial neoplasm											UMLS:C1335324|NCIT:C8429																		owl:Class
MONDO:0019399	biolink:NamedThing	Isaac syndrome	Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.	mondoexuq1wtf	neuromyotonia|Quantal squander syndrome|Isaac-Mertens syndrome|continuous muscle fiber activity syndrome|Isaacs' syndrome|Isaac's-Merten's syndrome|peripheral nerve hyperexcitability|acquired neuromyotonia											GARD:0006793|UMLS:CN206101|SCTID:305719002|UMLS:C0751919|Orphanet:84142|ICD10:G71.1																		owl:Class
MONDO:0016375	biolink:NamedThing	acquired peripheral movement disorder		mondoexuq1wtf												Orphanet:221114|UMLS:CN226913																		owl:Class
MONDO:0018590	biolink:NamedThing	ABeta2M amyloidosis		mondoexuq1wtf	Beta2-microglobulinic amyloidosis											Orphanet:439246																		owl:Class
MONDO:0019065	biolink:NamedThing	amyloidosis	A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.	mondoexuq1wtf	amyloidosis|amyloid|amyloidoses|amyloidosis (disease)|amyloid disease		amyloidosis (disease)			Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes						ICD9:277.30|DOID:9120|UMLS:C0002726|EFO:1001875|Orphanet:69|ICD10:E85.9|ONCOTREE:MIDDA|HP:0011034|MESH:D000686|MedDRA:10002022|ICD10:E85.4|COHD:432595|ICD10:E85.3|ICD9:277.3|ICD10:E85.8|ICD10:E85.2|ICD10:E85|SCTID:17602002|ICD10:E85.0|ICD10:E85.1|NCIT:C2868																		owl:Class
MONDO:0014541	biolink:NamedThing	motor developmental delay due to 14q32.2 paternally expressed gene defect	A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.	mondoexuq1wtf	maternal uniparental disomy chromosome 14 syndrome|mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|TEMPLE syndrome											OMIM:616222|NCIT:C120409|DOID:0111713|UMLS:C4015558|Orphanet:254516																		owl:Class
MONDO:0011225	biolink:NamedThing	severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.	mondoexuq1wtf	SCID due to DCLRE1C deficiency|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency due to artemis deficiency|Athabaskan Severe combined immunodeficiency|SCID due to artemis deficiency|SCID, Athabaskan type|artemis deficiency|RS-SCID|severe combined immunodeficiency due to DCLRE1C deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabaskan-type|severe combined immunodeficiency, partial|severe combined immunodeficiency, Athabaskan type|DCLRE1C severe combined immunodeficiency (disease)|severe combined immunodeficiency, Athabascan type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|SCID due to ARTEMIS deficiency|SCID, Athabascan type											SCTID:715982006|DOID:0090012|OMIM:602450|GARD:0009987|DOID:0060006|ICD10:D81.1|Orphanet:275														https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation				owl:Class
MONDO:0017855	biolink:NamedThing	T-B- severe combined immunodeficiency	T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.	mondoexuq1wtf	T-B- SCID											ICD10:D81.1|Orphanet:317419																		owl:Class
MONDO:0012010	biolink:NamedThing	coronary heart disease, susceptibility to, 4		mondoexuq1wtf	coronary heart disease, susceptibility to, 4|Chds4|coronary heart disease, susceptibility to, type 4											UMLS:C1842258|OMIM:608318																		owl:Class
MONDO:0012279	biolink:NamedThing	congenital muscular dystrophy merosin-positive	The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.	mondoexuq1wtf	muscular dystrophy, congenital, merosin-POSITIVE											OMIM:609456|DOID:0110638|UMLS:C1836133|MESH:C563716|GARD:0003855														https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive				owl:Class
MONDO:0019950	biolink:NamedThing	congenital muscular dystrophy	A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.	mondoexuq1wtf	CMD|MDC|congenital MD											Orphanet:97242|UMLS:C0699743|ICD10:G71.2|EFO:0006819|SCTID:240059009|DOID:0050557|GARD:0009138|ICD9:359.0																		owl:Class
MONDO:0013794	biolink:NamedThing	thrombocythemia 3	Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene.	mondoexuq1wtf	JAK2 essential thrombocythemia|thrombocytosis 3|THCYT3|essential thrombocythemia caused by mutation in JAK2|thrombocythemia type 3|thrombocythemia 3											OMIM:614521|UMLS:C3281125																		owl:Class
MONDO:0007488	biolink:NamedThing	Lewy body dementia	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.	mondoexuq1wtf	diffuse Lewy body disease with gaze palsy|diffuse Lewy body disease|DLB|Lewy body variant of Alzheimer disease|Senile dementia of the Lewy body type|dementia with Lewy bodies|Lewy body disease|Lewy body dementia|dementia, Lewy body											ICD9:331.82|COHD:380701|OMIM:127750|SCTID:312991009|EFO:0006792|UMLS:C0752347|ICD10:G31.83|DOID:12217|GARD:0003243|NCIT:C84826																		owl:Class
MONDO:0001627	biolink:NamedThing	dementia	Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.	mondoexuq1wtf	dementia (disease)|dementia		dementia (disease)									MESH:D003704|COHD:4182210|NCIT:C4786|DOID:1307|SCTID:52448006|ICD9:290.8|GARD:0011946|ICD9:294.1|ICD9:294.8																		owl:Class
MONDO:0021660	biolink:NamedThing	deep seated dermatophytosis	A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.	mondoexuq1wtf	deep seated dermatophytosis											UMLS:C1395264|NCIT:C35073																		owl:Class
MONDO:0021201	biolink:NamedThing	skin infection	An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.	mondoexuq1wtf	skin infection											UMLS:C0037278|SCTID:19824006|NCIT:C35025																		owl:Class
MONDO:0018003	biolink:NamedThing	limbic encephalitis with DPP6 antibodies		mondoexuq1wtf	limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies											ICD10:G13.1|Orphanet:329341																		owl:Class
MONDO:0015594	biolink:NamedThing	non-paraneoplastic limbic encephalitis		mondoexuq1wtf												Orphanet:163918																		owl:Class
MONDO:0003531	biolink:NamedThing	papillary eccrine carcinoma		mondoexuq1wtf	digital papillary adenocarcinoma|eccrine papillary adenocarcinoma|papillary apocrine fibroadenoma|papillary eccrine adenoma|papillary eccrine carcinoma|tubular apocrine adenoma											DOID:5591|SCTID:254709009|UMLS:C1367774|NCIT:C27254																		owl:Class
MONDO:0002512	biolink:NamedThing	papillary adenocarcinoma	A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.	mondoexuq1wtf	papillary adenocarcinoma NOS (morphologic abnormality)|papillary adenocarcinoma (morphologic abnormality)|infiltrating papillary adenocarcinoma|papillary adenocarcinoma|adenocarcinoma, papillary, malignant|infiltrating and papillary adenocarcinoma											UMLS:C1321863|NCIT:C2853|MESH:D000231|ICDO:8260/3|DOID:3112|UMLS:C0001420																		owl:Class
MONDO:0001235	biolink:NamedThing	appendix cancer	A malignant neoplasm involving the vermiform appendix	mondoexuq1wtf	malignant neoplasm of the appendix|malignant tumor of appendix|malignant appendix neoplasm|vermiform appendix cancer|malignant vermiform appendix neoplasm|cancer of vermiform appendix|malignant neoplasm of appendix vermiformis|malignant appendix tumor|cancer of the appendix|malignant tumor of the appendix|malignant neoplasm of appendix|malignant neoplasm of vermiform appendix											ICD10:C18.1|NCIT:C9333|UMLS:C0496779|ICD9:153.5|DOID:11239|COHD:443383|SCTID:363411007																		owl:Class
MONDO:0011510	biolink:NamedThing	Bohring-Opitz syndrome	Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.	mondoexuq1wtf	BOPS|Opitz trigonocephaly-like syndrome|BOHRING-Opitz syndrome|Bos syndrome|Oberklaid-Danks syndrome|Bohring syndrome|C-like syndrome|Bohring-Opitz syndrome											NCIT:C131533|MESH:C537419|OMIM:605039|SCTID:720565000|ICD10:Q87.8|GARD:0010140|Orphanet:97297|UMLS:C0796232														https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome				owl:Class
MONDO:0003586	biolink:NamedThing	esophagus liposarcoma	A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.	mondoexuq1wtf	esophageal liposarcoma|liposarcoma of esophagus|esophagus liposarcoma|liposarcoma of the esophagus											UMLS:C1333456|NCIT:C5705|DOID:5694																		owl:Class
MONDO:0014647	biolink:NamedThing	developmental and epileptic encephalopathy, 50		mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type Iz|DEE50|congenital disorder of glycosylation, type Iz, formerly|CAD-CDG|epileptic encephalopathy, early infantile, 50|EIEE50|CDG syndrome type Iz|congenital disorder of glycosylation, type Iz|CDG1Z|CDG-Iz|congenital disorder of glycosylation type 1z											ICD10:E77.8|UMLS:C4225320|Orphanet:448010|DOID:0080419|OMIM:616457																		owl:Class
MONDO:0005500	biolink:NamedThing	congenital disorder of glycosylation type I	A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.	mondoexuq1wtf	congenital disorders of glycosylation, type I|ALG6-CDG|DPM1-CDG|MPDU1-CDG|DPM2-CDG (CDG-1u)|ALG2-CDG (CDG-1i)|ALG6-CDG (CDG-1c)|DPM3-CDG|SRD5A3-CDG (CDG-1q)|ALG11-CDG (CDG-1p)|DPAGT1-CDG (CDG-1j)|SRD5A3-CDG|ALG1-CDG (CDG-1k)|RFT1-CDG (CDG-1n)|DPM2-CDG|DPM3-CDG (CDG-1o)|ALG3-CDG|ALG9-CDG (CDG-1l)|DOLK-CDG|MPI-CDG|DOLK-CDG (CDG-1m)|ALG8-CDG (CDG-1h)|PMM2-CDG (CDG-1a)|ALG11-CDG|ALG3-CDG (CDG-1d)|ALG1-CDG|PMM2-CDG|MPDU1-CDG (CDG-1f)|DPM1-CDG (CDG-1e)|DPAGT1-CDG|ALG12-CDG (CDG-1g)|ALG8-CDG|RFT1-CDG|ALG12-CDG|ALG2-CDG|MPI-CDG (CDG-1b)|ALG9-CDG											DOID:0050570|OMIMPS:212065|EFO:0005545																		owl:Class
MONDO:0004822	biolink:NamedThing	bronchiectasis	Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.	mondoexuq1wtf	Polynesian bronchiectasis											ICD10:J47|OMIMPS:211400|UMLS:C0006267|NCIT:C84475|DOID:9563|ICD10:J47.9|SCTID:12295008|COHD:256449|ICD9:494|MESH:D001987																		owl:Class
MONDO:0013259	biolink:NamedThing	Oguchi disease-2	Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.	mondoexuq1wtf	night blindness, congenital stationary, Oguchi type 2|congenital stationary night blindness Oguchi type 2|CSNBO2|Oguchi disease 2|Oguchi disease caused by mutation in GRK1|Oguchi disease type 2|GRK1 Oguchi disease											UMLS:C3150678|DOID:0110713|OMIM:613411																		owl:Class
MONDO:0019152	biolink:NamedThing	Oguchi disease	Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.	mondoexuq1wtf	Oguchi syndrome|stationary night blindness, Oguchi type|congenital stationary night blindness, Oguchi type											MESH:C537743|Orphanet:75382|ICD10:H53.6|GARD:0010118														https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease				owl:Class
MONDO:0017857	biolink:NamedThing	spina bifida-hypospadias syndrome	Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	mondoexuq1wtf												ICD10:Q05.9|UMLS:CN203872|Orphanet:3176																		owl:Class
MONDO:0021282	biolink:NamedThing	malignant teratoma of testis	A malignant teratoma that involves the testis.	mondoexuq1wtf	immature teratoma of testis|testicular malignant teratoma|testis malignant teratoma|malignant testicular teratoma|testicular immature teratoma|malignant teratoma of the testis|immature teratoma of the testis|immature testicular teratoma											SCTID:416769008|UMLS:C1334154|ICD9:186.9|NCIT:C6353																		owl:Class
MONDO:0003510	biolink:NamedThing	malignant testicular germ cell tumor	A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.	mondoexuq1wtf	malignant germ cell neoplasm of testis|malignant germ cell tumor of the testis|malignant testicular germ cell tumor|testicular germ cell cancer|testicular malignant germ cell cancer|testicular cancer (excluding germ cell or trophoblastic cancer)|malignant testicular germ cell neoplasm|testicular ca. (no germ/tropho.)|testicular cancer|malignant germ cell tumor of testis|malignant germ cell neoplasm of the testis											UMLS:C0855197|DOID:5556|NCIT:C9063|ICD9:186.9|SCTID:713646001																		owl:Class
MONDO:0002984	biolink:NamedThing	reticulohistiocytic granuloma	A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003	mondoexuq1wtf	Reticulohistiocytoma|solitary histiocytoma|reticulohistiocytic granuloma (morphologic abnormality)|solitary Reticulohistiocytoma|solitary reticulohistiocytosis|solitary reticulohistiocytoma											NCIT:C3356|DOID:4394|ICD9:277.89|SCTID:404162004|GARD:0012967|UMLS:C0035290																		owl:Class
MONDO:0002637	biolink:NamedThing	histiocytosis	A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.	mondoexuq1wtf	histiocytic infiltrate|histiocytic and dendritic cell neoplasms|histiocytic syndrome|hand Schuller Christian disease|chronic histiocytosis X											ONCOTREE:HDCN|NCIT:C3106|DOID:3405|MESH:D015614|UMLS:C0019618																		owl:Class
MONDO:0014673	biolink:NamedThing	cataract 44	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.	mondoexuq1wtf	LSS early-onset non-syndromic cataract|CTRCT44|early-onset non-syndromic cataract caused by mutation in LSS|cataract type 44|total early-onset cataract|cataract 44											DOID:0110267|UMLS:C4225300|ICD10:Q12.0|OMIM:616509																		owl:Class
MONDO:0011060	biolink:NamedThing	early-onset non-syndromic cataract	Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.	mondoexuq1wtf	cataract, age-related nuclear|nuclear sclerosis of the lens					Not in the OMIM series.						UMLS:C1832423|ICD10:Q12.0|OMIM:601371|Orphanet:91492																		owl:Class
MONDO:0015001	biolink:NamedThing	atrial fibrillation, familial, 18	Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.	mondoexuq1wtf	atrial fibrillation, familial, 18; ATFB18|atrial fibrillation, familial, 18|ATFB18|atrial fibrillation, familial, type 18|familial atrial fibrillation caused by mutation in MYL4|MYL4 familial atrial fibrillation											UMLS:C4310636|OMIM:617280																		owl:Class
MONDO:0018054	biolink:NamedThing	familial atrial fibrillation	An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.	mondoexuq1wtf	atrial fibrillation autosomal dominant|atrial fibrillation, familial|hereditary atrial fibrillation (disease)|autosomal dominant atrial fibrillation|ATFB					Editor note: DO def states this as being in ATFB but this is not correct						GARD:0009740|SCTID:715395008|DOID:0050650|OMIMPS:608583|UMLS:CN204347|Orphanet:334|ICD10:I48.9																		owl:Class
MONDO:0020001	biolink:NamedThing	respiratory or thoracic malformation		mondoexuq1wtf												Orphanet:97957																		owl:Class
MONDO:0022780	biolink:NamedThing	cleft lip palate pituitary deficiency		mondoexuq1wtf												GARD:0001382														https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency				owl:Class
MONDO:0003113	biolink:NamedThing	extragonadal germ cell cancer	A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	mondoexuq1wtf	malignant extragonadal germ cell tumor|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell|malignant neoplasm of the extragonadal germ cell|malignant tumor of the extragonadal germ cell|malignant tumor of extragonadal germ cell|tumor of extragonadal germ cell|extragonadal germ cell tumor, malignant											DOID:4717|UMLS:C1334581|NCIT:C8881																		owl:Class
MONDO:0018201	biolink:NamedThing	extragonadal germ cell tumor	A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).	mondoexuq1wtf	extragonadal germ cell neoplasm|tumor of extragonadal germ cell|tumor of the extragonadal germ cell|neoplasm of the extragonadal germ cell|neoplasm of extragonadal germ cell|extragonadal germ cell tumor|primary extragonadal germ cell tumor|extragonadal germ cell neoplasms											UMLS:C0262963|GARD:0009325|NCIT:C3918|Orphanet:363579|UMLS:CN204711																		owl:Class
MONDO:0014150	biolink:NamedThing	childhood onset epileptic encephalopathy	An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.	mondoexuq1wtf	epileptic encephalopathy, childhood-onset|CHD2 myoclonic encephalopathy|childhood-onset epileptic encephalopathy|CHCHD10-related disorders|EEOC											GARD:0013197|DOID:0060475|UMLS:C3809278|OMIM:615369																		owl:Class
MONDO:0004608	biolink:NamedThing	oropharynx cancer	A primary or metastatic malignant neoplasm that affects the oropharynx.	mondoexuq1wtf	oropharyngeal cancer|primary malignant neoplasm of lateral wall of oropharynx|malignant tumor of posterior wall of oropharynx|malignant oropharyngeal neoplasm|oropharyngeal carcinoma|malignant tumour of mesopharynx|malignant neoplasm of oropharynx|malignant neoplasm of lateral wall of oropharynx|malignant neoplasm of junctional region of oropharynx|oropharynx cancer|malignant neoplasm of the oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant oropharyngeal tumor|malignant oropharynx neoplasm|malignant tumor of oropharynx|cancer of oropharynx|malignant tumor of the oropharynx											ICD9:146.9|ICD10:C10.3|ICD10:C10.2|UMLS:C3165521|MESH:D009959|DOID:8557|UMLS:C2349952|NCIT:C7398|EFO:1001931|UMLS:C0153390|ICD9:146.7|UMLS:C0153382|ICD10:C10|ICD9:146.5|GARD:0009358|ICD10:C10.9|ICD9:146|UMLS:C0153389|ICD10:C10.8|ICD9:146.6																		owl:Class
MONDO:0054740	biolink:NamedThing	blepharocheilodontic syndrome 1	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.	mondoexuq1wtf	ectropion, Inferior, with cleft 51P and/Or palate|BCDS1|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|CDH1 blepharo-cheilo-odontic syndrome|Lagophthalmia with bilateral cleft 51P and palate|elschnig syndrome|BCD syndrome|clefting, ectropion, and conical teeth|blepharocheilodontic syndrome 1|blepharocheilodontic syndrome											OMIM:119580|DOID:0080345																		owl:Class
MONDO:0007339	biolink:NamedThing	blepharocheilodontic syndrome	An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.	mondoexuq1wtf	ectropion inferior cleft lip and or palate|BCDS1|blepharocheilodontic syndrome|clefting, ectropion, and conical teeth|lagophthalmia with bilateral cleft lip and palate|ectropion, inferior, with cleft lip and/or palate|Elschnig syndrome|blepharo-cheilo-odontic syndrome|clefting-ectropion-conical teeth syndrome|Elsching syndrome|ectropion inferior-cleft lip and or palate syndrome|BCD syndrome|blepharocheilodontic syndrome 1|BCDS|blepharo-cheilo-dontic syndrome|ectropion inferior-cleft lip and/or palate syndrome|lagophthalmia-cleft lip and palate syndrome											Orphanet:1997|UMLS:C1861536|ICD10:Q87.8|GARD:0002071|MESH:C536188|OMIMPS:119580|SCTID:717911008|DOID:0080344														https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate				owl:Class
MONDO:0022736	biolink:NamedThing	occupational lung disease		mondoexuq1wtf	Occupational respiratory disease|Occupational inhalation disease|Occupational pulmonary disease|Occupational lung disease|Occupational lung disorder											ICD9:508.9|GARD:0012752|UMLS:C0264421|SCTID:86157004																		owl:Class
MONDO:0005275	biolink:NamedThing	lung disease	A disease involving the lung.	mondoexuq1wtf	pulmonary disorders|lung disease or disorder|pulmonary disease|disorder of lung|lung disease|lung disorder|pulmonary disorder|lung disorders|disease or disorder of lung|disease of lung|pulmonary diseases											ICD10:J98.4|NCIT:C3198|EFO:0003818|MESH:D008171|SCTID:19829001|DOID:850|ICD9:518.89																		owl:Class
MONDO:0006037	biolink:NamedThing	hydrolethalus syndrome	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	mondoexuq1wtf	HLS|hydrolethalus|Salonen-Herva-Norio syndrome											DOID:0050779|Orphanet:2189|EFO:1000033|GARD:0006683|SCTID:721232000|MESH:C536079|UMLS:C2931104|ICD10:Q87.8|OMIMPS:236680														https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome				owl:Class
MONDO:0018307	biolink:NamedThing	neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.	mondoexuq1wtf	NBIA					Editor note: check relationship to PKAN						OMIMPS:234200|GARD:0011899|ICD10:G23.0|MESH:C538421|DC:0000320|DOID:0110734|Orphanet:385																		owl:Class
MONDO:0002283	biolink:NamedThing	neuroaxonal dystrophy	A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)	mondoexuq1wtf												MESH:D019150|UMLS:C0338473|SCTID:230365004|DOID:2367|NCIT:C161542																		owl:Class
MONDO:0003053	biolink:NamedThing	choroid plexus meningioma	A meningioma that affects the choroid plexus.	mondoexuq1wtf	meningioma (disease) of choroid plexus|meningioma of the choroid plexus|meningioma of choroid plexus|choroid plexus meningioma|choroid plexus meningioma (disease)|choroid meningioma (morphologic abnormality)											UMLS:C0431118|NCIT:C4719|DOID:4584																		owl:Class
MONDO:0002681	biolink:NamedThing	choroid plexus cancer	A malignant neoplasm involving the choroid plexus	mondoexuq1wtf	malignant choroid plexus neoplasms|malignant neoplasm of the choroid plexus|malignant tumor of choroid plexus|malignant neoplasm of choroid plexus|choroid plexus cancer|choroid plexus neoplasm|cancer of choroid plexus|malignant choroid plexus tumor|malignant choroid plexus neoplasm|tumor of choroid plexus|malignant tumor of the choroid plexus|malignant choroid plexus tumors					Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16						NCIT:C4533|DOID:3540																		owl:Class
MONDO:0018606	biolink:NamedThing	extensive peripapillary myelinated nerve fibers		mondoexuq1wtf												Orphanet:440724|UMLS:CN237640																		owl:Class
MONDO:0002135	biolink:NamedThing	optic nerve disease	A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).	mondoexuq1wtf	optic nerve disorder|disease of cranial nerve II|disease or disorder of cranial nerve II|cranial nerve II disease or disorder|second cranial nerve disorder|optic neuropathy|disorder of the second nerve|cranial nerve II disease|disorder of cranial nerve II											NCIT:C79698|MESH:D009901|UMLS:C0029132|DOID:1891|ICD9:377.9|COHD:374360|ICD9:377.49|SCTID:77157004																		owl:Class
MONDO:0100040	biolink:NamedThing	FOXG1 disorder	A monogenic disease that has material basis in mutation in the FOXG1 gene.	mondoexuq1wtf	inherited genetic disease caused by mutation in FOXG1|FOXG1 inherited genetic disease				2018-06-29 19:29:48+00:00	Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity.																								owl:Class
MONDO:0000594	biolink:NamedThing	pervasive developmental disorder	A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.	mondoexuq1wtf	pervasive development disorder|pervasive child development disorders|pervasive development disorders											ICD9:299.80|SCTID:35919005|NCIT:C97179|MESH:D002659|DOID:0060040																		owl:Class
MONDO:0032666	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 4		mondoexuq1wtf	EV4|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4											OMIM:618307																		owl:Class
MONDO:0009176	biolink:NamedThing	epidermodysplasia verruciformis	Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.	mondoexuq1wtf	Lewandowsky-Lutz dysplasia|EV|ever|epidermodysplasia verruciformis|Lutz-Lewandowsky epidermodysplasia verruciformis|Lewandowsky-Lutz syndrome											UMLS:C0014522|Orphanet:302|DOID:13777|GARD:0006357|NCIT:C126877|OMIM:226400|MESH:D004819|ICD9:757.8|SCTID:19138001|OMIMPS:226400|ICD9:078.19|ICD10:B07|MedDRA:10052339														https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis				owl:Class
MONDO:0007679	biolink:NamedThing	GMS syndrome	GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome|GMS syndrome|Goniodysgenesis--mental retardation--short stature syndrome											UMLS:C1841854|OMIM:138770|ICD10:Q87.8|MESH:C564214|GARD:0002523|Orphanet:2090|SCTID:716024001														https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome				owl:Class
MONDO:0020520	biolink:NamedThing	adult pulmonary Langerhans cell histiocytosis	Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.	mondoexuq1wtf	pulmonary Langerhans cell histiocytosis|PLCH|pulmonary histiocytosis X|pulmonary eosinophilic granuloma											NCIT:C142833|Orphanet:99874|SCTID:328611000119105|UMLS:C1455705|ICD10:C96.5|UMLS:C3161104|ICD10:J84.82																		owl:Class
MONDO:0020517	biolink:NamedThing	eosinophilic granuloma	A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.	mondoexuq1wtf	unifocal Langerhans cell histiocytosis|chronic and localized Langerhans cell histiocytosis|eosinophilic granuloma|Monostotic Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic unifocal Langerhans cell histiocytosis											ICD10:C96.6|COHD:4044708|ICDO:9752/1|Orphanet:99871|SCTID:129000002|UMLS:C0014461|NCIT:C3016|MESH:D004803|ICD9:277.89|MedDRA:10014956																		owl:Class
MONDO:0016004	biolink:NamedThing	aminopterin/methotrexate embryofetopathy	Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.	mondoexuq1wtf	aminopterin syndrome|fetal methotrexate syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal aminopterin syndrome											ICD10:Q86.8|NCIT:C98928|SCTID:65986000|ICD9:759.89|MedDRA:10071183|Orphanet:1908|UMLS:C0432367|GARD:0002294																		owl:Class
MONDO:0015323	biolink:NamedThing	teratogenic Pierre Robin syndrome		mondoexuq1wtf	teratogenic Pierre Robin sequence											Orphanet:138059|UMLS:CN199294																		owl:Class
MONDO:0002856	biolink:NamedThing	gallbladder rhabdomyosarcoma	A rhabdomyosarcoma that is located in the gallbladder.	mondoexuq1wtf	gallbladder rhabdomyosarcoma|rhabdomyosarcoma of gallbladder|rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma (disease)|gall bladder rhabdomyosarcoma|rhabdomyosarcoma of the gallbladder											NCIT:C5839|UMLS:C1333756|DOID:4057																		owl:Class
MONDO:0002857	biolink:NamedThing	gallbladder sarcoma	A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	mondoexuq1wtf	gall bladder sarcoma|sarcoma of the gallbladder|sarcoma of gallbladder|malignant mesenchymal tumor of gallbladder|sarcoma of gall bladder|gallbladder sarcoma											NCIT:C5736|UMLS:C1333757|DOID:4058																		owl:Class
MONDO:0024331	biolink:NamedThing	colorectal carcinoma	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	mondoexuq1wtf	CRC|carcinoma of the large intestine|colorectal (colon or rectal) cancer|colorectum carcinoma|large bowel carcinoma|carcinoma of colorectum|colorectal carcinoma|large intestine carcinoma|carcinoma of the large bowel|large bowel cancer|cancer of large bowel|cancer of the large intestine|carcinoma of large bowel|colorectal cancer|cancer of large intestine|carcinoma of large intestine|large intestine cancer|cancer of the large bowel											DOID:0080199|UMLS:CN221574|NCIT:C2955																		owl:Class
MONDO:0013520	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 3	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.	mondoexuq1wtf	dyskeratosis congenita, autosomal recessive 3|autosomal recessive dyskeratosis congenita 3|DKCB3|dyskeratosis congenita, autosomal recessive type 3											UMLS:C3151442|OMIM:613988|DOID:0070019																		owl:Class
MONDO:0020640	biolink:NamedThing	autoimmune encephalitis	Inflammation of the brain secondary to an immune response triggered by the body itself.	mondoexuq1wtf	autoimmune encephalitis											SCTID:95643007|NCIT:C122414|GARD:0011979																		owl:Class
MONDO:0000995	biolink:NamedThing	familial periodic paralysis	A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.	mondoexuq1wtf	normokalemic periodic paralyses|periodic paralyses, normokalemic|paralyses, normokalemic periodic|periodic paralysis, familial|paralysis, normokalemic periodic|familial periodic paralysis|periodic paralysis, normokalemic|periodic paralyses, familial|genetic periodic paralysis|hereditary periodic paralysis (disease)|paralysis, familial periodic|normokalemic periodic paralysis|familial periodic paralyses											GARD:0006422|ICD10:G72.3|NCIT:C84709|DOID:1029|Orphanet:371433|SCTID:267607008|MESH:D010245														https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis				owl:Class
MONDO:0006825	biolink:NamedThing	kuru	A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)	mondoexuq1wtf	kuru encephalopathy											ICD10:A81.8|Orphanet:454745|UMLS:C0022802|COHD:444373|EFO:1001008|MedDRA:10023497|GARD:0007617|SCTID:86188000|DOID:648|ICD10:A81.81|ICD9:046.0|MESH:D007729														https://rarediseases.info.nih.gov/diseases/7617/kuru				owl:Class
MONDO:0005429	biolink:NamedThing	prion disease	A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.	mondoexuq1wtf	spongiform encephalopathy|prion induced disorder|prion protein disease|prion disease pathway					Editor note: check relationship to spongiform encephalopathy NCIT:C27585						NCIT:C128346|EFO:0004720|DOID:649|MESH:D017096|KEGG:05020|ICD9:046.19|ICD10:A81.9|SCTID:230284004																		owl:Class
MONDO:0011695	biolink:NamedThing	melanoma, uveal, susceptibility to, 1		mondoexuq1wtf	melanoma, uveal, susceptibility to, type 1|Uvm1|melanoma, uveal, susceptibility to, 1											OMIM:606660																		owl:Class
MONDO:0006486	biolink:NamedThing	uveal melanoma	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.	mondoexuq1wtf	uveal melanoma|uvea melanoma (disease)|uvea melanoma|choroidal melanoma|melanoma, uveal, malignant|melanoma (disease) of uvea|melanoma of uvea|iris melanoma|melanoma of the uvea|intraocular melanoma											ICD10:C69.3|UMLS:C0220633|MedDRA:10061252|EFO:1000616|Orphanet:39044|GARD:0008621|MESH:C536494|NCIT:C7712|DOID:6039|ONCOTREE:UM																		owl:Class
MONDO:0010925	biolink:NamedThing	velo-facial-skeletal syndrome	Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	mondoexuq1wtf	VELOFACIOSKELETAL syndrome											Orphanet:3424|MESH:C536536|OMIM:600736|ICD10:Q87.0|GARD:0005469|UMLS:C1833380|SCTID:763616002																		owl:Class
MONDO:0011519	biolink:NamedThing	autosomal dominant nonsyndromic deafness 23	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness caused by mutation in SIX1|autosomal dominant deafness 23|DFNA 23|autosomal dominant nonsyndromic deafness type 23|deafness, autosomal dominant type 23|DFNA23|deafness, autosomal dominant nonsyndromic sensorineural 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 23											MESH:C565357|GARD:0001708|OMIM:605192|DOID:0110553|UMLS:C1854594|ICD10:H90.3																		owl:Class
MONDO:0025420	biolink:NamedThing	gastroenteritis, transmissible, of swine	A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.	mondoexuq1wtf	transmissible Gastroenteritides, porcine|gastroenteritis, transmissible porcine|transmissible gastroenteritis, porcine|transmissible porcine Gastroenteritides|Gastroenteritides, transmissible porcine|porcine transmissible Gastroenteritides|porcine transmissible gastroenteritis|gastroenteritis, transmissible, porcine|transmissible gastroenteritis of swine|porcine Gastroenteritides, transmissible|transmissible porcine gastroenteritis|Gastroenteritides, porcine transmissible|Gastroenteritides, swine transmissible|gastroenteritis, porcine transmissible|gastroenteritis, swine transmissible|transmissible Gastroenteritides, swine|transmissible gastroenteritis, swine|swine transmissible Gastroenteritides|porcine gastroenteritis, transmissible|swine transmissible gastroenteritis											MESH:D005761|UMLS:C0017162																		owl:Class
MONDO:0024990	biolink:NamedThing	swine disease	Diseases of domestic swine and of the wild boar of the genus Sus.	mondoexuq1wtf	diseases, swine|disease, swine|swine disease											MESH:D013553|UMLS:C0039006																		owl:Class
MONDO:0007404	biolink:NamedThing	Cri-du-chat syndrome	Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.	mondoexuq1wtf	5p- syndrome|Cat-Cry syndrome|chromosome 5 short arm deletion syndrome|deletion 5p|5p partial monosomy syndrome|chromosome 5P deletion syndrome|Cri du chat syndrome|monosomy 5p|chromosome 5p- syndrome|chromosome 5p deletion syndrome|Cat Cry syndrome|monosomy type 5p|5p deletion syndrome|5p minus syndrome|Cri-du-chat syndrome											MESH:D003410|DOID:12580|ICD9:758.39|UMLS:CN776901|ICD9:758.31|NCIT:C34518|OMIM:123450|ICD10:Q93.4|GARD:0006213|MedDRA:10011385|Orphanet:281|SCTID:70173007|UMLS:C0010314																		owl:Class
MONDO:0007855	biolink:NamedThing	keratosis, familial actinic		mondoexuq1wtf	keratosis, familial actinic											MESH:C567190|UMLS:C2675099|OMIM:148390																		owl:Class
MONDO:0016904	biolink:NamedThing	partial deletion of the long arm of chromosome 5		mondoexuq1wtf	partial monosomy of the long arm of chromosome 5|partial deletion of the long arm of chromosome type 5|partial monosomy of chromosome 5q|partial deletion of chromosome 5q											Orphanet:262038|ICD10:Q93.5																		owl:Class
MONDO:0016870	biolink:NamedThing	partial deletion of chromosome 5		mondoexuq1wtf	partial monosomy of chromosome 5|partial deletion of chromosome type 5											Orphanet:261786																		owl:Class
MONDO:0021921	biolink:NamedThing	Arnold stickler bourne syndrome		mondoexuq1wtf	corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy											GARD:0000366|MESH:C537431|UMLS:C2931492														https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome				owl:Class
MONDO:0005240	biolink:NamedThing	kidney disease	A disease involving the kidney.	mondoexuq1wtf	kidney disease|disease or disorder of kidney|disease of kidney|disorder of kidney|renal disease|renal disorder|nephropathy|kidney disease or disorder|kidney disorder											ICD9:583.81|UMLS:C0022658|ICD10:N08|DOID:557|NCIT:C3149|EFO:0003086|MESH:D007674|SCTID:90708001|ICD10:N28.9																		owl:Class
MONDO:0003549	biolink:NamedThing	adenosquamous bile duct carcinoma	An adenosquamous carcinoma that arises from the bile ducts.	mondoexuq1wtf	adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma|adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct											DOID:5624|UMLS:C0861854																		owl:Class
MONDO:0056815	biolink:NamedThing	liver adenosquamous carcinoma	A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.	mondoexuq1wtf	liver adenosquamous cancer|liver adenosquamous carcinoma											UMLS:C3898586|NCIT:C118630																		owl:Class
MONDO:0010611	biolink:NamedThing	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.	mondoexuq1wtf	X-linked hydrocephalus|HSAS1|X-linked HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked acqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|Bickers-Adams syndrome|hydrocephalus, X-linked|HYCX|aqueductal stenosis, X-linked|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|HSAS|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|XLAS											OMIM:307000|SCTID:71779008|ICD10:Q03.0|MESH:C536078|Orphanet:2182|GARD:0000434																		owl:Class
MONDO:0016349	biolink:NamedThing	congenital hydrocephalus	Hydrocephalus that is present at birth.	mondoexuq1wtf	HYC3|congenital hydrocephalus											ICD10:Q03.8|MedDRA:10010506|ICD10:Q03.1|NCIT:C98876|Orphanet:2185|COHD:438244|ICD10:Q03|UMLS:C0020256|ICD10:Q03.0|ICD10:Q03.9|OMIMPS:236600|SCTID:47032000																		owl:Class
MONDO:0011934	biolink:NamedThing	dermatofibrosarcoma protuberans	Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).	mondoexuq1wtf	dermatofibrosarcoma protuberans|dermatofibrosarcoma|giant cell fibroblastoma|metastatic dermatofibrosarcoma protuberans (subtype)|familial dermatofibrosarcoma protuberans (subtype)|DFSP											Orphanet:31112|OMIM:607907|MESH:D018223|DOID:3507|NCIT:C4683|MedDRA:10057070|ICD10:C49.9|GARD:0009569|ICDO:8832/3|SCTID:276799004|UMLS:C0392784|ONCOTREE:DFSP														https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans				owl:Class
MONDO:0006297	biolink:NamedThing	maxillary sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.	mondoexuq1wtf	adenoid cystic carcinoma of the maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of maxillary sinus											DOID:7198|UMLS:C1334643|NCIT:C6239|EFO:1000365																		owl:Class
MONDO:0017552	biolink:NamedThing	humero-ulnar synostosis, unilateral		mondoexuq1wtf	humero-ulnar fusion, unilateral											ICD10:Q74.0|Orphanet:295213																		owl:Class
MONDO:0019782	biolink:NamedThing	humero-ulnar synostosis		mondoexuq1wtf	humero-ulnar fusion											Orphanet:94056|ICD10:Q74.0																		owl:Class
MONDO:0018248	biolink:NamedThing	intellectual disability-seizures-macrocephaly-obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	mondoexuq1wtf	Der(8)t(8;12)											UMLS:CN204818|Orphanet:369950|ICD10:Q87.8																		owl:Class
MONDO:0024611	biolink:NamedThing	orbit neoplasm	A benign or malignant neoplasm that affects the orbit.	mondoexuq1wtf	orbital tumor|orbit tumor|orbit neoplasm|neoplasm of orbit|orbit of skull neoplasm|orbital neoplasms|orbital neoplasm|tumor of orbit of skull|tumor of orbit|neoplasm of the orbit|orbit of skull tumor|neoplasm of orbit of skull|tumor of the orbit											NCIT:C3290																		owl:Class
MONDO:0002022	biolink:NamedThing	disease of orbital region	A disease that involves the orbital region.	mondoexuq1wtf	ophthalmological disorder|disease of orbital region|orbital region disease|disorder of eye region|disease or disorder of orbital region|disorder of orbital region|eye and adnexa disease|orbital region disease or disorder											DOID:1492|SCTID:371409005|ICD10:H00.H59|ICD9:362.10|ICD10:H35.00																		owl:Class
MONDO:0016541	biolink:NamedThing	acquired secondary polycythemia	An instance of secondary polycythemia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired secondary erythrocytosis|acquired secondary polycythemia											ICD10:D75.1|Orphanet:238547																		owl:Class
MONDO:0002438	biolink:NamedThing	acquired polycythemia	An instance of polycythemia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired polycythemia|acquired polycythemia (disease)|polycythemia, secondary											ICD9:289.0|DOID:2834|ICD10:D75.1																		owl:Class
MONDO:0011932	biolink:NamedThing	hypotrichosis 6	Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.	mondoexuq1wtf	hypotrichosis 6|hypotrichosis, localized, autosomal recessive|hypotrichosis, localized, autosomal recessive 1|monilethrix-like hypotrichosis|hypotrichosis caused by mutation in DSG4|hypotrichosis type 6|autosomal recessive localized hypotrichosis|Lah1|Htl|DSG4 hypotrichosis|HYPT6											UMLS:C1842839|MESH:C564312|DOID:0110703|OMIM:607903																		owl:Class
MONDO:0018914	biolink:NamedThing	hypotrichosis simplex	Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.	mondoexuq1wtf	hereditary hypotrichosis simplex											SCTID:723362004|UMLS:C1854310|Orphanet:55654|MESH:C537160|GARD:0009170|ICD10:L65.8																		owl:Class
MONDO:0060752	biolink:NamedThing	neurodevelopmental disorder with spasticity and poor growth		mondoexuq1wtf	neurodevelopmental disorder with spasticity and poor growth|NEDSG											OMIM:618076																		owl:Class
MONDO:0016827	biolink:NamedThing	myopathy-growth delay-intellectual disability-hypospadias syndrome		mondoexuq1wtf												ICD10:G71.8|Orphanet:2601|UMLS:CN230273																		owl:Class
MONDO:0010535	biolink:NamedThing	Bazex-Dupre-Christol syndrome	Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.	mondoexuq1wtf	follicular atrophoderma-basal cell carcinoma syndrome|Bazex-Dupré-Christol syndrome|BZX|BDCS|follicular atrophoderma and basal cell carcinomas|Bazex-Dupre-Christol syndrome|Bazex syndrome|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome											Orphanet:113|SCTID:254820002|ICD10:L98.8|OMIM:301845|GARD:0000838																		owl:Class
MONDO:0019108	biolink:NamedThing	silent sinus syndrome	Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.	mondoexuq1wtf	Imploding antrum syndrome											UMLS:C3698095|ICD9:478.19|Orphanet:71276|SCTID:699802009																		owl:Class
MONDO:0021181	biolink:NamedThing	inherited blood coagulation disorder	Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.	mondoexuq1wtf	hereditary blood coagulation disorders|coagulation disorder, hereditary|inherited coagulation disorder|inherited coagulation disorders|coagulation disorder, inherited|hereditary coagulation disorders|hereditary coagulation disorder|coagulation disorders, hereditary|inherited blood coagulation disorders|inherited blood coagulation disease|rare genetic coagulation disorder|hereditary blood coagulation disease|coagulation disorders, inherited											DOID:2214|UMLS:CN226819|UMLS:C0852077|Orphanet:183654|MESH:D025861																		owl:Class
MONDO:0010719	biolink:NamedThing	radiation sensitivity of natural killer activity		mondoexuq1wtf	radiation sensitivity of natural killer activity|X-Ray Nk sensitivity											UMLS:C1839408|MESH:C564066|OMIM:312210																		owl:Class
MONDO:0014488	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 5	Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.	mondoexuq1wtf	diabetes mellitus, noninsulin-dependent, type 5|type 2 diabetes mellitus caused by mutation in TBC1D4|NIDDM5|diabetes mellitus, noninsulin-dependent, 5|TBC1D4 type 2 diabetes mellitus											UMLS:C4015183|OMIM:616087																		owl:Class
MONDO:0010993	biolink:NamedThing	Harrod syndrome	Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	mondoexuq1wtf	Harrod syndrome|Harrod Doman Keele syndrome|craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome											MESH:C535635|SCTID:716089008|OMIM:601095|Orphanet:2115|GARD:0002601|ICD10:Q87.8|UMLS:C0795970																		owl:Class
MONDO:0009001	biolink:NamedThing	macular coloboma-cleft palate-hallux valgus syndrome	Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	mondoexuq1wtf	coloboma of macula and skeletal anomalies											UMLS:C1857619|Orphanet:91494|SCTID:722463001|MESH:C565686|ICD10:Q87.8|OMIM:216800																		owl:Class
MONDO:0013696	biolink:NamedThing	chromosome 2P16.3 deletion syndrome		mondoexuq1wtf	schizophrenia 17|chromosome 2P16.3 deletion syndrome											UMLS:C3808494|OMIM:614332																		owl:Class
MONDO:0017575	biolink:NamedThing	mitochondrial neurogastrointestinal encephalomyopathy	Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	mondoexuq1wtf	mitochondrial Neurogastrointestingal encephalopathy|POLIP|mitochondrial neurogastrointestinal encephalopathy syndrome|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|OGIMD|thymidine phosphorylase deficiency|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome|MNGIE|oculogastrointestinal muscular dystrophy|MNGIE syndrome											MESH:C537477|GARD:0009920|NCIT:C119678|ICD10:G71.3|SCTID:718214007|Orphanet:298														https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome				owl:Class
MONDO:0016403	biolink:NamedThing	mitochondrial disease with peripheral neuropathy		mondoexuq1wtf												Orphanet:225703|UMLS:CN201332																		owl:Class
MONDO:0006219	biolink:NamedThing	gallbladder small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	gall bladder small cell carcinoma|small cell carcinoma of gallbladder|Oat cell carcinoma of the gallbladder|gallbladder small cell NEC|small cell carcinoma of gall bladder|gallbladder small cell carcinoma|small cell carcinoma of the gallbladder|Oat cell carcinoma of gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder Oat cell carcinoma											NCIT:C6763|EFO:1000266|UMLS:C1333759|DOID:7133																		owl:Class
MONDO:0000402	biolink:NamedThing	small cell carcinoma	A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.	mondoexuq1wtf	small cell carcinoma|small cell NEC|small cell carcinoma - intermediate cell|oat cell carcinoma|oat cell cancer|small cell carcinoma, intermediate cell|intermediate cell small cell carcinoma|small cell car. (extrapulmonary)|small cell neuroendocrine carcinoma|small cell carcinoma (extrapulmonary)|small cell cancer|small cell carcinoma, intermediate cell (morphologic abnormality)											SCTID:11010461000119101|NCIT:C3915|MESH:D018288|DOID:0050685|UMLS:C0334239|ICDO:8042/3|ICDO:8041/3|EFO:0008524																		owl:Class
MONDO:0014340	biolink:NamedThing	atrial fibrillation, familial, 15	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.	mondoexuq1wtf	atrial fibrillation, familial, 15|ATFB15|atrial fibrillation, familial, type 15|familial atrial fibrillation caused by mutation in NUP155|NUP155 familial atrial fibrillation											OMIM:615770|UMLS:C4014269																		owl:Class
MONDO:0014919	biolink:NamedThing	sessile serrated polyposis cancer syndrome		mondoexuq1wtf	sessile serrated polyposis cancer syndrome; SSPCS|SSPCS|sessile serrated polyposis cancer syndrome											UMLS:C4310714|OMIM:617108																		owl:Class
MONDO:0015524	biolink:NamedThing	hyperplastic polyposis syndrome	Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.	mondoexuq1wtf	serrated polyposis											SCTID:763536006|NCIT:C165469|ICD10:D12.6|Orphanet:157798|UMLS:CN199665																		owl:Class
MONDO:0012911	biolink:NamedThing	pseudohypoparathyroidism type 1C	Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).	mondoexuq1wtf	pseudohypoparathyroidism, type IC|pseudohypoparathyroidism, type 1C|Php 1C|PHP1C											MESH:C548076|ICD10:E20.1|OMIM:612462|GARD:0010681|Orphanet:79444|SCTID:717792007|UMLS:C2932716														https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c				owl:Class
MONDO:0017335	biolink:NamedThing	microtriplication 11q24.1	Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	mondoexuq1wtf	tetrasomy 11q24.1											Orphanet:289522|ICD10:Q99.8																		owl:Class
MONDO:0016962	biolink:NamedThing	partial duplication of the long arm of chromosome 11		mondoexuq1wtf	partial duplication of chromosome 11q|11q trisomy|partial duplication of the long arm of chromosome type 11|11q duplication|partial trisomy 11q|Duplication 11q|trisomy 11q|partial trisomy of chromosome 11q|partial trisomy of the long arm of chromosome 11|chromosome 11q duplication											GARD:0001923|Orphanet:262923																		owl:Class
MONDO:0100319	biolink:NamedThing	COVID-19–associated multisystem inflammatory syndrome in adults	A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).	mondoexuq1wtf	MIS-A							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0035375	biolink:NamedThing	multisystem inflammatory syndrome in children and adults		mondoexuq1wtf	MIS-C/A											ICD10:U10.9|Orphanet:598363																		owl:Class
MONDO:0011336	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 4	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.	mondoexuq1wtf	familial hemophagocytic lymphohistiocytosis type 4|FHL4|HLH4|Hlh4|HPLH4|STX11 genetic hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|Hplh4|hemophagocytic lymphohistiocytosis, familial, 4|hemophagocytic lymphohistiocytosis, familial, type 4											GARD:0009929|MESH:C537252|OMIM:603552|DOID:0110924														https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4				owl:Class
MONDO:0015541	biolink:NamedThing	genetic hemophagocytic lymphohistiocytosis	Genetic hemophagocytic lymphohistiocytosis.	mondoexuq1wtf	genetic hemophagocytic syndrome|genetic hemophagocytic lymphohistiocytosis|primary hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis											SCTID:398250003|OMIMPS:267700|MedDRA:10070904|ICD9:238.79|Orphanet:540																		owl:Class
MONDO:0008565	biolink:NamedThing	familial thyroglossal duct cyst	Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	mondoexuq1wtf	thyroglossal duct cysts|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial|thyroglossal duct cysts familial|hereditary thyroglossal duct cyst											GARD:0005204|Orphanet:93953|OMIM:188455|MESH:C536909|ICD10:Q89.2|UMLS:C3495590|SCTID:717331000														https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst				owl:Class
MONDO:0006460	biolink:NamedThing	thyroglossal duct cyst	A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.	mondoexuq1wtf												EFO:1000585|MESH:D013955|SCTID:39462005|ICD9:759.2																		owl:Class
MONDO:0006069	biolink:NamedThing	ACTH-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.	mondoexuq1wtf	malignant pituitary Corticotropinoma|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant adrenocorticotropin producing neoplasm of pituitary|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant Corticotropinoma of pituitary|malignant ACTH secreting tumor of pituitary gland|malignant ACTH producing pituitary gland neoplasm|malignant pituitary gland Corticotropinoma|malignant adrenocorticotropin producing pituitary neoplasm|malignant ACTH secreting pituitary tumor|malignant adrenocorticotropin producing tumor of pituitary gland|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing tumor of the pituitary|malignant ACTH secreting neoplasm of pituitary|malignant ACTH producing pituitary neoplasm|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin secreting pituitary gland tumor|malignant adrenocorticotropin secreting pituitary neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant ACTH producing neoplasm of pituitary|malignant Corticotropinoma of pituitary gland|malignant Corticotropinoma of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH producing pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary gland|malignant ACTH secreting pituitary neoplasm|malignant ACTH producing tumor of pituitary|malignant ACTH producing neoplasm of the pituitary|malignant ACTH secreting pituitary gland tumor|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary gland|malignant ACTH secreting tumor of pituitary|ACTH producing pituitary gland carcinoma|malignant ACTH producing neoplasm of pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant adrenocorticotropin producing pituitary tumor|malignant adrenocorticotropin producing tumor of the pituitary											UMLS:C1334556|DOID:6276|EFO:1000067|NCIT:C5964																		owl:Class
MONDO:0018975	biolink:NamedThing	neurofibromatosis type 1	Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	mondoexuq1wtf	Von Recklinghausen disease|neurofibromatosis type 1 microdeletion syndrome|neurofibromatosis, peripheral type|von Reklinghausen disease|neurofibromatosis 1|neurofibromatosis type 1|neurofibromatosis, type 1|type 1 neurofibromatosis|Recklinghausen's disease|peripheral neurofibromatosis|NF1|neurofibromatosis, type I|neurofibromatosis											OMIM:162200|SCTID:92824003|MESH:D009456|MedDRA:10047712|GARD:0007866|UMLS:C0027831|ICD9:237.71|DOID:0111253|Orphanet:636|NCIT:C3273|ICD10:Q85.0|COHD:377252																		owl:Class
MONDO:0021061	biolink:NamedThing	neurofibromatosis	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.	mondoexuq1wtf	central Neurofibromatosis|Neurofibromatosis 1|neurofibromatosis type 4|type IV neurofibromatosis of riccardi|neurofibromatosis type 2|Recklinghausen's neurofibromatosis|neurofibromatosis|peripheral Neurofibromatosis|neurofibromatosis type IV|acoustic neurofibromatosis|von Reklinghausen disease|neurofibromatosis syndrome											NCIT:C6727|ICD10:Q85.02|ICD10:Q85.01|UMLS:C0162678|GARD:0010420|ICDO:9540/1|ICD9:237.7|DOID:8712|ICD9:237.70|COHD:376938|SCTID:19133005|MESH:D017253|ICD9:237.71|ICD9:237.72|ICD10:Q85.00																		owl:Class
MONDO:0004014	biolink:NamedThing	ethmoid sinus ectopic meningioma	An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.	mondoexuq1wtf	primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of the ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of ethmoid sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus											NCIT:C5309|DOID:6854|UMLS:C1333475																		owl:Class
MONDO:0001764	biolink:NamedThing	ethmoidal sinus neoplasm	A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	neoplasm of ethmoid sinus|ethmoidal sinus neoplasm|tumor of the ethmoidal sinus|neoplasm of the ethmoidal sinus|ethmoid sinus neoplasm|tumor of ethmoid sinus|ethmoid sinus tumor|neoplasm of the ethmoid sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|tumor of ethmoidal sinus|neoplasm of ethmoidal sinus|ethmoid sinus neoplasm (disease)										MONDO:0021215	NCIT:C4416|DOID:1364|SCTID:126677000|UMLS:C0345668																		owl:Class
MONDO:0012308	biolink:NamedThing	Joubert syndrome with renal defect	Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	mondoexuq1wtf	Joubert syndrome with renal anomalies|Joubert syndrome type 4|JBTS4|Joubert syndrome 4|JS-R											DOID:0110999|ICD10:Q04.3|Orphanet:220497|GARD:0010169|NCIT:C74997|MESH:C536296|SCTID:716999001|ICD10:Q61.5|OMIM:609583														https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies				owl:Class
MONDO:0000629	biolink:NamedThing	cardiovascular organ benign neoplasm	A benign neoplasm that involves the cardiovascular system.	mondoexuq1wtf	cardiovascular system benign neoplasm											DOID:0060091																		owl:Class
MONDO:0010201	biolink:NamedThing	Winchester syndrome		mondoexuq1wtf	Winchester-Grossman syndrome|multicentric osteolysis, nodulosis and arthropathy|nodulosis arthropathy osteolysis syndrome|WNCHRS|noa syndrome|Torg Winchester syndrome|Winchester syndrome|Al-Qeel Sewairi syndrome					Editor note: check relationship to parent						GARD:0007894|SCTID:254151006|OMIM:277950|UMLS:CN204453|ICD9:733.29																		owl:Class
MONDO:0007044	biolink:NamedThing	acrodysostosis 1 with or without hormone resistance	An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.	mondoexuq1wtf	acrodysostosis 1 with or without hormone resistance|acrodysostosis 1|ADOHR|ACRDYS1											NCIT:C136464|UMLS:C3276228|OMIM:101800																		owl:Class
MONDO:0017240	biolink:NamedThing	acrodysostosis with multiple hormone resistance		mondoexuq1wtf												UMLS:CN202748|ICD10:Q75.4|Orphanet:280651																		owl:Class
MONDO:0014583	biolink:NamedThing	congenital myasthenic syndrome 3A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.	mondoexuq1wtf	congenital myasthenic syndrome type 3A|congenital myasthenic syndrome 3A, slow-channel|CMS3A|myasthenic syndrome, congenital, 3A, slow-channel											DOID:0110666|UMLS:C4225372|OMIM:616321																		owl:Class
MONDO:0018361	biolink:NamedThing	neonatal scleroderma		mondoexuq1wtf												Orphanet:398127|ICD10:P83.8																		owl:Class
MONDO:0001892	biolink:NamedThing	spinal cord lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.	mondoexuq1wtf	spinal cord lymphoma|lymphoma of spinal cord|primary spinal cord lymphoma|spinal cord cancer|lymphoma of the spinal cord											NCIT:C5157|UMLS:C1336044|DOID:14150																		owl:Class
MONDO:0020458	biolink:NamedThing	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.	mondoexuq1wtf	adenosine deaminase, elevated, hemolytic anemia due to											UMLS:CN207319|MESH:C566314|ICD10:D55.3|UMLS:C1863235|Orphanet:99138|OMIM:102730																		owl:Class
MONDO:0008809	biolink:NamedThing	polyneuropathy-hand defect syndrome	Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	digital extensor muscle aplasia-polyneuropathy|aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|polyneuropathy, hand defect|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|Hamanishi Ueba Tsuji syndrome											UMLS:C2930955|ICD10:Q87.8|OMIM:207740|Orphanet:2926|MESH:C535624|GARD:0002589														https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome				owl:Class
MONDO:0015364	biolink:NamedThing	hereditary sensory and autonomic neuropathy	An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	congenital insensitivity to pain|hereditary sensory autonomic neuropathy|hereditary sensory neuropathy|congenital pain insensitivity|hereditary sensory peripheral neuropathy|CIP|hereditary sensory and autonomic neuropathy|HSAN|indifference to pain, Congenital, autosomal recessive											MESH:D009477|DOID:0050548|GARD:0012688|DC:0000323|NCIT:C125386|UMLS:C0027889|SCTID:11442006|Orphanet:140471|COHD:380398|OMIMPS:162400|ICD9:356.2|ICD10:G60.8								familial dysautonomia, type II						https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25				owl:Class
MONDO:0016214	biolink:NamedThing	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	mondoexuq1wtf												Orphanet:210136|UMLS:CN200975																		owl:Class
MONDO:0017027	biolink:NamedThing	primary interstitial lung disease specific to adulthood		mondoexuq1wtf	primary ILD specific to adulthood											UMLS:CN202339|Orphanet:264740																		owl:Class
MONDO:0010665	biolink:NamedThing	Wilson-Turner syndrome	Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	mondoexuq1wtf	intellectual disability, X-linked, with gynecomastia and obesity|mental retardation, X-linked, syndromic 6|Wilson-TURNER X-linked mental retardation syndrome|Wilson Turner intellectual disability syndrome (formerly)|Wilson Turner mental retardation syndrome (formerly)|MRXS6|intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson-TURNER X-linked intellectual disability syndrome|mental retardation, X-linked, with gynecomastia and obesity (formerly)|mental retardation, X-linked, syndromic 6 (formerly)|X-linked intellectual disability-gynecomastia-obesity syndrome|intellectual disability, X-linked, syndromic 6|WTS|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity (formerly)											Orphanet:3459|MESH:C536708|OMIM:309585|SCTID:719834005|DOID:0060814|GARD:0005579														https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome				owl:Class
MONDO:0014746	biolink:NamedThing	SLC39A8-CDG		mondoexuq1wtf	congenital disorder of glycosylation type 2n|CDG2N|CDG IIn|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|CDG syndrome type IIn|CDG-IIn|congenital disorder of glycosylation type IIn|SLC39A8 deficiency											UMLS:CN234734|DOID:0070266|UMLS:C4225234|OMIM:616721|Orphanet:468699																		owl:Class
MONDO:0003278	biolink:NamedThing	inner ear cancer	A malignant neoplasm involving the internal ear.	mondoexuq1wtf	cancer of internal ear|malignant neoplasm of internal ear|internal ear cancer|malignant internal ear neoplasm											DOID:5102																		owl:Class
MONDO:0003277	biolink:NamedThing	malignant ear neoplasm	A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.	mondoexuq1wtf	ear cancer|cancer of ear|malignant Ear tumor|malignant ear neoplasm|malignant tumor of ear|malignant neoplasm of ear|malignant neoplasm of the Ear|malignant Ear neoplasm|malignant neoplasm of Ear|auricular cancer|malignant tumor of the Ear|malignant tumor of Ear											SCTID:443648003|DOID:5101|MESH:D004428|NCIT:C9337|UMLS:C0751094																		owl:Class
MONDO:0000965	biolink:NamedThing	liver lipoma	A rare benign adipose tissue neoplasm of the liver.	mondoexuq1wtf	lipoma of the liver|hepatic lipoma|liver lipoma|lipoma of liver											NCIT:C5750|UMLS:C1333970|DOID:10190																		owl:Class
MONDO:0000627	biolink:NamedThing	benign endocrine neoplasm	A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.	mondoexuq1wtf	benign neoplasm of endocrine gland|benign tumor of the endocrine gland|benign endocrine gland tumor|benign tumor of endocrine gland|benign endocrine neoplasm|endocrine gland benign neoplasm|benign endocrine gland neoplasm|benign neoplasm of the endocrine gland|endocrine organ benign neoplasm|benign endocrine tumor											SCTID:92085000|ICD9:227.8|ICD9:227.9|COHD:136937|NCIT:C4621|DOID:0060089|UMLS:C0347524																		owl:Class
MONDO:0003655	biolink:NamedThing	cerebral lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.	mondoexuq1wtf	primary lymphoma, brain|primary cerebral lymphoma|brain primary lymphoma|cerebral lymphoma|primary lymphoma of the cerebrum|primary lymphoma of cerebrum											NCIT:C7611|UMLS:C0240803|SCTID:276836002|DOID:5815																		owl:Class
MONDO:0002731	biolink:NamedThing	cerebral hemisphere cancer	A cancer that involves the cerebral hemisphere.	mondoexuq1wtf	malignant cerebral hemisphere neoplasm|malignant tumor of the cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of telencephalon|malignant neoplasm of cerebrum|malignant tumor of cerebral hemispheres|malignant telencephalon neoplasm|tumor of cerebrum|cerebral cancer|malignant cerebral neoplasm|malignant neoplasm of the cerebrum|malignant tumor of the cerebrum|malignant neoplasm of cerebral hemisphere|telencephalon cancer|cancer of cerebral hemisphere|malignant cerebral hemispheric tumor|malignant tumor of cerebrum|malignant neoplasm of cerebral hemispheres|malignant cerebral tumor|malignant cerebral hemispheric neoplasm|cerebrum cancer|cancer of telencephalon											NCIT:C4577|ICD9:191.8|COHD:4091490|SCTID:429033009|DOID:368																		owl:Class
MONDO:0005876	biolink:NamedThing	Nidovirales infectious disease	Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.	mondoexuq1wtf	Nidovirales disease or disorder|Nidovirales caused disease or disorder											MESH:D030341|UMLS:C0969753|EFO:0007396																		owl:Class
MONDO:0007052	biolink:NamedThing	growth hormone secreting pituitary adenoma 1		mondoexuq1wtf	pituitary adenoma, growth hormone-secreting, 1|acromegaly due to pituitary adenoma 1|pituitary adenoma, familial isolated|familial isolated pituitary adenoma syndrome|Somatotrophinoma, familial|pituitary adenoma, growth hormone-secreting, type 1|pituitary adenoma 1, multiple types|PITA1|PAGH1|somatotropinoma, familial isolated|pituitary adenoma predisposition|isolated familial somatotropinoma					Editor note: consider splitting OMIM						GARD:0010959|OMIM:102200																		owl:Class
MONDO:0006238	biolink:NamedThing	growth hormone-producing pituitary gland adenoma	An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.	mondoexuq1wtf	growth hormone-producing adenoma|growth hormone producing pituitary adenoma|growth hormone secreting pituitary adenoma|growth hormone producing adenoma of pituitary|somatotroph adenoma|growth hormone secreting adenoma of the pituitary|growth hormone secreting adenoma of pituitary|growth hormone-producing pituitary gland adenoma|growth hormone secreting adenoma of pituitary gland|growth hormone secreting adenoma of the pituitary gland|growth hormone producing adenoma of the pituitary|GH cell adenoma|somatotropic adenoma|somatotrope adenoma|growth hormone producing pituitary gland adenoma|Somatotrophinoma|growth hormone secreting pituitary gland adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary gland										MONDO:0005332	EFO:0004125|NCIT:C7461|ICD10:D35.2|DOID:6255|SCTID:254957009|ICD10:E22.0|Orphanet:96256|EFO:1000287																		owl:Class
MONDO:0045031	biolink:NamedThing	infectious diarrheal disease		mondoexuq1wtf	infectious diarrheal disease|infective diarrhea|infectious diarrhea											SCTID:19213003																		owl:Class
MONDO:0001673	biolink:NamedThing	diarrheal disease	The condition of having at least three loose or liquid bowel movements each day.	mondoexuq1wtf	loose stools|diarrheal disorder|diarrheal disease|frequent stools|diarrhea of presumed infectious origin|diarrhea|diarrhoea											MESH:D003967|ICD9:009.2|NCIT:C2987|SCTID:128333008|COHD:196523|DOID:13250|HP:0002014																		owl:Class
MONDO:0000473	biolink:NamedThing	arterial disorder	An impairment of the structure or function of the blood vessels which carry blood away from the heart.	mondoexuq1wtf	disease of artery|disease or disorder of artery|artery disease|arterial disorder|arteriopathy|artery disease or disorder|arterial disease|disorder of artery											UMLS:C0852949|ICD9:447.9|DOID:0050828|NCIT:C35317|SCTID:359557001|ICD9:447.8																		owl:Class
MONDO:0009964	biolink:NamedThing	short-rib thoracic dysplasia 9 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.	mondoexuq1wtf	Mainzer-Saldino syndrome|Mainzer Saldino syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|Conorenal syndrome|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|SRTD9|Saldino-Mainzer syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia											ICD10:Q87.5|OMIM:266920|GARD:0008600|ICD9:759.89|SCTID:254092004|Orphanet:140969|DOID:0110097																		owl:Class
MONDO:0016296	biolink:NamedThing	holoprosencephaly	Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.	mondoexuq1wtf	holoprosencephaly sequence|HPE											UMLS:C0079541|ICD10:Q04.2|OMIMPS:236100|MESH:D016142|NCIT:C74988|SCTID:30915001|GARD:0006665|Orphanet:2162|DOID:4621|MedDRA:10056304														https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly				owl:Class
MONDO:0004914	biolink:NamedThing	median arcuate ligament syndrome	A syndromic disease that involves the median arcuate ligament.	mondoexuq1wtf	Harjola-Marable syndrome|median arcuate ligament syndromic disease|syndromic disease of median arcuate ligament|celiac artery compression syndrome|celiac access syndrome|Marable's syndrome											ICD9:447.4|ICD10:I77.4|DOID:9892|COHD:194393|GARD:0012308|SCTID:9250002																		owl:Class
MONDO:0009539	biolink:NamedThing	lymphoblastic leukemia, acute, with lymphomatous features		mondoexuq1wtf	lall|lymphomatous All|lymphoblastic leukemia, acute, with lymphomatous features											OMIM:247640|MESH:C565429|UMLS:C1855472																		owl:Class
MONDO:0004967	biolink:NamedThing	acute lymphoblastic leukemia	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.	mondoexuq1wtf	leukemia, lymphoblastic, malignant|ALL|acute lymphocytic leukaemia|lymphoblastic leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia (disease)|ALL - acute lymphocytic leukemia|precursor cell lymphoblastic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemias|acute lymphogenous leukemia|acute lymphoblastic leukemia (ALL)|precursor Lymphoblasic leukemia|acute lymphocytic leukemia|acute lymphoid leukemia|acute lymphoblastic leukemia/lymphoma|precursor lymphoblastic leukemia		acute lymphoblastic leukemia (disease)									ICD10:C91.9|ICD9:204.9|ICD10:C91|ICD10:C91.90|SCTID:91857003|ICD10:C91.00|COHD:134305|ICD10:C91.0|DOID:9952|EFO:0000220|DOID:1037|ICD9:204|NCIT:C3167|HP:0006721|GARD:0000522|ICDO:9835/3|ICD9:204.00|Orphanet:513|ICD9:204.0																		owl:Class
MONDO:0013276	biolink:NamedThing	Reynolds syndrome	Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).	mondoexuq1wtf	primary biliary cirrhosis and systemic scleroderma|Reynolds syndrome|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia											ICD10:L94.0|OMIM:613471|ICD10:K74.3|GARD:0004697|Orphanet:779|SCTID:715401008|UMLS:C0748397														https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome				owl:Class
MONDO:0020130	biolink:NamedThing	malformation of the cerebellar vermis		mondoexuq1wtf												Orphanet:98514																		owl:Class
MONDO:0007906	biolink:NamedThing	familial partial lipodystrophy, Dunnigan type	Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	mondoexuq1wtf	lipodystrophy, reverse partial|Dunnigan syndrome|FPLD2|familial partial lipodystrophy Dunnigan type|familial partial lipodystrophy type 2|lipodystrophy, familial partial, type 2|familial lipodystrophy of limbs and lower trunk|lipodystrophy, familial partial, Dunnigan type|FPL2|reverse partial lipodystrophy|lipodystrophy, familial, of limbs and Lower trunk											GARD:3126|ICD10:E88.1|Orphanet:2348|OMIM:151660|GARD:0003126|DOID:0070202|SCTID:715439000																		owl:Class
MONDO:0015333	biolink:NamedThing	progeroid syndrome	A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.	mondoexuq1wtf												Orphanet:139033|UMLS:CN199363|DC:0000583																		owl:Class
MONDO:0016740	biolink:NamedThing	choriocarcinoma of the central nervous system	A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)	mondoexuq1wtf	choriocarcinoma of CNS|central nervous system choriocarcinoma|choriocarcinoma of the CNS|central nervous system choriocarcinoma (disease)											NCIT:C7012|Orphanet:252015|UMLS:CN201988|UMLS:C1332876																		owl:Class
MONDO:0005207	biolink:NamedThing	choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	mondoexuq1wtf	chorioblastoma|chorionic carcinoma|chorion carcinoma|choriocarcinoma, malignant|choriocarcinoma (disease)|chorioepithelioma|choriocarcinoma		choriocarcinoma (disease)			Editor note: TODO check classification w.r.t carcinoma						EFO:0002893|SCTID:188188009|NCIT:C2948|ICD10:C58|ONCOTREE:BCCA|ICDO:9100/3|UMLS:C0008497|DOID:3594|GARD:0006059|MESH:D002822|HP:0100768																		owl:Class
MONDO:0011142	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type	Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.	mondoexuq1wtf	musculocontractural Ehlers-Danlos syndrome|EDS, arthrogryposic type|Ehlers-Danlos syndrome, type VIB, formerly|adducted thumbs Dundar type|Ehlers-Danlos syndrome, musculocontractural type, 1|Ehlers-Danlos syndrome, type Vib, formerly|Ehlers-Danlos syndrome, musculocontractural type 1|CHST14-related EDS|adducted thumbs-arthrogryposis syndrome, Dundar type|EDSMC1|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb clubfoot syndrome|ATCS|EDSMC|CHST14-related Ehlers-Danlos syndrome|D4ST1-deficient EDS|Ehlers-Danlos syndrome, Kosho type|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|EDSmc|MCEDS|Ehlers-Danlos syndrome, arthrogryposic type|Ehlers-Danlos syndrome, type Vib|EDS6B, formerly|EDS, Kosho type|musculocontractural EDS|Dundar syndrome|adducted thumb-club foot syndrome|autosomal recessive adducted thumb-club foot syndrome|adducted thumb-clubfoot syndrome|EDS, musculocontractural type|D4ST1-deficient Ehlers-Danlos syndrome											GARD:0000545|Orphanet:2953|GARD:0008486|ICD10:Q79.6|MESH:C000600608|SCTID:720860004														https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type				owl:Class
MONDO:0018293	biolink:NamedThing	congenital disorder of glycosylation with skin involvement		mondoexuq1wtf	CDG with skin involvement											ICD10:E77.8|Orphanet:371200																		owl:Class
MONDO:0025484	biolink:NamedThing	simian acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.	mondoexuq1wtf	SAIDS|Simian acquired immuno deficiency syndrome|Simian acquired immuno-deficiency syndrome|Simian immunodeficiency virus caused monkey disease|AIDSs, Simian|AIDS, Simian|Simian AIDS|Simian AIDSs|Simian acquired immune deficiency syndrome|Simian immunodeficiency virus monkey disease											UMLS:C0080151|MESH:D016097																		owl:Class
MONDO:0025102	biolink:NamedThing	monkey disease	Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).	mondoexuq1wtf	diseases, monkey|monkey disease|disease, monkey											MESH:D008992																		owl:Class
MONDO:0000286	biolink:NamedThing	Epstein-Barr virus hepatitis	A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.	mondoexuq1wtf												DOID:0050204|SCTID:302919001|UMLS:C0554114																		owl:Class
MONDO:0023212	biolink:NamedThing	Garret-Tripp syndrome		mondoexuq1wtf	polydactyly alopecia seborrheic dermatitis|Garret Tripp syndrome|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip											UMLS:C2930965|MESH:C535646|GARD:0002435														https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome				owl:Class
MONDO:0044874	biolink:NamedThing	refractory cytopenia of childhood	The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.	mondoexuq1wtf	refractory cytopenia of childhood|RCC											NCIT:C82596|ONCOTREE:RCYC																		owl:Class
MONDO:0044873	biolink:NamedThing	childhood myelodysplastic syndrome	An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.	mondoexuq1wtf	myelodysplastic syndrome|childhood myelodysplastic syndrome|childhood MDS											NCIT:C68744																		owl:Class
MONDO:0008546	biolink:NamedThing	thanatophoric dysplasia type 1	Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.	mondoexuq1wtf	thanatophoric dwarfism 1|PLSD San Diego type|Platyspondylic lethal skeletal dysplasia, San Diego type|thanatophoric dwarfism type 1|type 1 thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia, type I|TD1|thanatophoric dysplasia|thanatophoric dysplasia, type 1|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia type I											Orphanet:1860|NCIT:C98583|GARD:0009295|UMLS:C1868678|OMIM:187600|UMLS:C1300256|ICD10:Q77.1|GARD:0004889																		owl:Class
MONDO:0013325	biolink:NamedThing	COG5-CDG	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.	mondoexuq1wtf	CDG III|congenital disorder of glycosylation type 2i|CDG-III|congenital disorder of glycosylation type III|congenital disorder of glycosylation, type III|CDG syndrome type III|CDG2I|COG5-CDG (CDG-III)|carbohydrate deficient glycoprotein syndrome type III|CDG syndrome type 3											Orphanet:263487|OMIM:613612|DOID:0070261|GARD:0001173|ICD10:E77.8|GARD:0012348|SCTID:721100009|UMLS:C3150876														https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3				owl:Class
MONDO:0027029	biolink:NamedThing	HHV-6 encephalitis	HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.	mondoexuq1wtf	Variant A or HHV-6A|Human Herpesvirus 6 encephalitis|Variant B or HHV-6B											GARD:0009667																		owl:Class
MONDO:0006009	biolink:NamedThing	viral encephalitis	Encephalitis resulting from viral infection.	mondoexuq1wtf	Viruses caused encephalitis|Viruses encephalitis|viral encephalitis					Editor note: we place the Orphanet class here as it is implicitly viral						NCIT:C35302|SCTID:34476008|MedDRA:10058805|COHD:372547|DOID:646|EFO:0007538|Orphanet:98252|UMLS:C0243010																		owl:Class
MONDO:0017623	biolink:NamedThing	PTEN hamartoma tumor syndrome	A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.	mondoexuq1wtf	PHTS											SCTID:722859001|UMLS:C1959582|DOID:0080191|GARD:0012800|Orphanet:306498														https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome				owl:Class
MONDO:0019226	biolink:NamedThing	glucose transport disorder	An acquired metabolic disease that is has its basis in the disruption of glucose transport.	mondoexuq1wtf	rare inborn error of glucose transport|inborn error of glucose transport											Orphanet:79178|ICD10:E74.8|UMLS:CN227593																		owl:Class
MONDO:0017706	biolink:NamedThing	disorder of carbohydrate absorption and transport		mondoexuq1wtf												UMLS:CN227180|Orphanet:309001																		owl:Class
MONDO:0005978	biolink:NamedThing	theileriasis	Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.	mondoexuq1wtf	infection by Theileria|theileriosis											ICD9:136.8|SCTID:68771000|UMLS:C0039753|MESH:D013801|EFO:0007506|DOID:3733																		owl:Class
MONDO:0002428	biolink:NamedThing	protozoa infectious disease	An infection that is caused by protozoans.	mondoexuq1wtf	protozoal infection|Mastigophora infectious disease|parasitic protozoa infectious disease|sarcomastigophora infectious disease											ICD10:B50-B64|ICD10:B64|NCIT:C34953|DOID:2789|MESH:D011528																		owl:Class
MONDO:0007968	biolink:NamedThing	melanoma tumor antigen Gp90		mondoexuq1wtf	Class 1 unique tumor antigen of melanoma|melanoma tumor antigen Gp90											OMIM:155770																		owl:Class
MONDO:0014747	biolink:NamedThing	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome		mondoexuq1wtf	RDICC|retinal dystrophy and iris coloboma with or without congenital cataract											UMLS:C4225233|OMIM:616722|Orphanet:488197																		owl:Class
MONDO:0002311	biolink:NamedThing	retinal vascular disease	Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.	mondoexuq1wtf	retina circulation disorder|retinal vascular disorder											COHD:434337|ICD9:362.13|DOID:2462|NCIT:C35170|UMLS:C0154833|SCTID:57534004																		owl:Class
MONDO:0043218	biolink:NamedThing	neurovascular disease	A disorder of the nervous system related to a vascular etiology.	mondoexuq1wtf	nervous system disorder of vasculature|vasculature nervous system disorder|neurovascular disorder|disease of nervous system vasculature											NCIT:C117007|UMLS:C3898144																		owl:Class
MONDO:0009259	biolink:NamedThing	gamma-glutamylcysteine synthetase deficiency	Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.	mondoexuq1wtf	gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|glutamate-cysteine ligase deficiency|rare inborn error of glutamate-cysteine ligase activity|inborn error of glutamate-cysteine ligase activity|inborn glutamate-cysteine ligase activity disorder											OMIM:230450|DOID:0111681|SCTID:36799008|MESH:C565557|ICD9:270.8|ICD10:D55.1|Orphanet:33574																		owl:Class
MONDO:0010490	biolink:NamedThing	SSR4-CDG	(Xq28).	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type Iy|CDG 1Y|CDG1Y|congenital disorder of glycosylation type 1y|congenital disorder of glycosylation, type Iy|CDG syndrome type Iy|CDG Iy|CDGIy|CDG-Iy|congenital disorder of glycosylation type Iy											DOID:0070257|SCTID:733115009|UMLS:C4012395|OMIM:300934|Orphanet:370927|ICD10:E77.8|GARD:0012405																		owl:Class
MONDO:0017740	biolink:NamedThing	disorder of protein N-glycosylation	A disease that has its basis in the disruption of protein N-linked glycosylation.	mondoexuq1wtf	disorder of protein N-linked glycosylation|protein N-linked glycosylation disease											UMLS:CN227187|ICD10:E77.8|Orphanet:309347																		owl:Class
MONDO:0015692	biolink:NamedThing	refractory anemia with excess blasts in transformation	Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.	mondoexuq1wtf	RAEB-t											ICD10:D46.3|MedDRA:10038271|ICDO:9984/3|ICD9:238.73|UMLS:C0280028|NCIT:C27080|SCTID:110000005|UMLS:CN200189|Orphanet:168960																		owl:Class
MONDO:0030966	biolink:NamedThing	neurofacioskeletal syndrome with or without renal agenesis		mondoexuq1wtf	Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis|NFSRA											OMIM:619194																		owl:Class
MONDO:0010293	biolink:NamedThing	ectodermal dysplasia and immune deficiency		mondoexuq1wtf	hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|ectodermal dysplasia, anhidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immune deficiency|EDA-ID|hypohidrotic ectodermal dysplasia with immunodeficiency|ectodermal dysplasia, hypohidrotic, with immune deficiency|anhidrotic ectodermal dysplasia with immunodeficiency|HED-ID											GARD:0009936|NCIT:C118844|ICD10:D82.8|MESH:C536181|SCTID:703525006|Orphanet:98813|UMLS:C1846006|OMIMPS:300291																		owl:Class
MONDO:0018035	biolink:NamedThing	syndrome with combined immunodeficiency		mondoexuq1wtf												UMLS:CN204279|Orphanet:331217																		owl:Class
MONDO:0044749	biolink:NamedThing	X-linked congenital stationary night blindness	X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.	mondoexuq1wtf	XLCSNB|X-linked CSNB|congenital stationary night blindness, X-linked											UMLS:CN043584|GARD:0003995																		owl:Class
MONDO:0012204	biolink:NamedThing	familial pseudohyperkalemia	An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.	mondoexuq1wtf	PSHK2|pseudohyperkalemia, familial, 2, due to red cell leak|pseudohyperkalemia Lille|pseudohyperkalemia East London|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|cryohydrocytosis, mild											MESH:C563785|ICD10:D58.8|OMIM:609153|UMLS:C1836705|SCTID:717254007|UMLS:C4273970|Orphanet:90044																		owl:Class
MONDO:0020102	biolink:NamedThing	hereditary stomatocytosis		mondoexuq1wtf	hereditary stomatocytic disease											SCTID:14087004|ICD10:D58.8|Orphanet:98365|UMLS:C1262483|ICD9:282.8																		owl:Class
MONDO:0007718	biolink:NamedThing	hepatic adenomas, familial		mondoexuq1wtf	liver cell adenomas, familial|hepatic adenomas, familial											MESH:C564190|OMIM:142330|DOID:0111366|UMLS:C1840646																		owl:Class
MONDO:0000517	biolink:NamedThing	brain stem medulloblastoma	A medulloblastoma that involves the brainstem.	mondoexuq1wtf	brainstem medulloblastoma|medulloblastoma of brainstem											DOID:0050899																		owl:Class
MONDO:0021228	biolink:NamedThing	brainstem neoplasm	A neoplasm (disease) that involves the brainstem.	mondoexuq1wtf	brainstem neoplasm (disease)|brainstem tumor|tumor of brain stem|brain stem tumor|tumor of brainstem|neoplasm of the brainstem|neoplasm of brainstem|neoplasm of brain stem|Brain stem neoplasm|neoplasm of the brain stem|tumor of the brain stem|tumor of the brainstem											Orphanet:36414|NCIT:C4869																		owl:Class
MONDO:0016851	biolink:NamedThing	maternal uniparental disomy of chromosome X		mondoexuq1wtf	UPD(X)mat|maternal uniparental disomy of chromosome type X											ICD10:Q99.8|Orphanet:261519																		owl:Class
MONDO:0021147	biolink:NamedThing	disorder of development or morphogenesis	Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.	mondoexuq1wtf																														owl:Class
MONDO:0006793	biolink:NamedThing	hyperpituitarism	Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.	mondoexuq1wtf												COHD:26378|MESH:D006964|MedDRA:10020716|DOID:2444|ICD9:253.1|SCTID:10649000|EFO:1000973|UMLS:C0020506																		owl:Class
MONDO:0024468	biolink:NamedThing	anterior pituitary gland disease	A disease that involves the adenohypophysis.	mondoexuq1wtf	disease or disorder of adenohypophysis|disorder of adenohypophysis|disorder of anterior pituitary|adenohypophysis disease|disorder of anterior pituitary gland|disease of adenohypophysis|adenohypophysis disease or disorder											ICD9:253.4|ICD9:253.9|SCTID:51742006																		owl:Class
MONDO:0013530	biolink:NamedThing	atrial fibrillation, familial, 10	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.	mondoexuq1wtf	ATFB10|atrial fibrillation, familial, 10|familial atrial fibrillation caused by mutation in SCN5A|SCN5A familial atrial fibrillation|atrial fibrillation, familial, type 10											UMLS:C3151464|OMIM:614022																		owl:Class
MONDO:0008706	biolink:NamedThing	Ackerman syndrome	Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.	mondoexuq1wtf	juvenile glaucoma with unusual upper lip and dental roots|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|pyramidal molar-glaucoma-upper abnormal lip syndrome|Ackerman fused molar rooth syndrome|Ackerman syndrome|glaucoma, juvenile, with unusual upper lip and dental roots|pyramidal molars, glaucoma, abnormal upper lip											SCTID:722280000|OMIM:200970|Orphanet:2561|GARD:0000469|ICD10:K00.2|MESH:C538170|UMLS:C1860167														https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome				owl:Class
MONDO:0015762	biolink:NamedThing	progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	mondoexuq1wtf	PFIC|cholestasis, progressive familial intrahepatic											Orphanet:172|NCIT:C84453|ICD10:K76.8|UMLS:C0268312|DOID:0070221|OMIMPS:211600																		owl:Class
MONDO:0017755	biolink:NamedThing	inborn disorder of bilirubin metabolism	An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	bilirubin metabolism disorder|disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism|inborn disorder of bilirubin metabolism and excretion|hereditary bilirubin metabolism disease											Orphanet:309816|UMLS:CN227200																		owl:Class
MONDO:0018119	biolink:NamedThing	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement		mondoexuq1wtf												Orphanet:352309|UMLS:CN227266																		owl:Class
MONDO:0018117	biolink:NamedThing	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		mondoexuq1wtf												Orphanet:352301|UMLS:CN227264																		owl:Class
MONDO:0032702	biolink:NamedThing	Coffin-Siris syndrome 8		mondoexuq1wtf	CSS8|COFFIN-SIRIS SYNDROME 8					Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466						OMIM:618362																		owl:Class
MONDO:0015452	biolink:NamedThing	Coffin-Siris syndrome	Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.	mondoexuq1wtf	short stature-onychodysplasia.|dwarfism-onychodysplasia|CSS|intellectual disability with absent fifth fingernail and terminal phalanx|fifth digit syndrome											UMLS:C0265338|GARD:0006124|Orphanet:1465|SCTID:10007009|ICD10:Q87.1|ICD9:759.89|MESH:C536436|DOID:1925|OMIMPS:135900|NCIT:C35321																		owl:Class
MONDO:0003620	biolink:NamedThing	peripheral nervous system disease	A disease involving the peripheral nervous system.	mondoexuq1wtf	peripheral Neuropathies|nerve diseases, peripheral|disorder of peripheral nervous system|peripheral nerve disease|peripheral nervous system disease|disorder of the peripheral nervous system|peripheral nervous system disease or disorder|nerve disease, peripheral|neuropathy, peripheral|peripheral neuropathy|PNS diseases|PNS (peripheral nervous system) diseases|PNS disease|disease of peripheral nervous system|peripheral nervous system disorder|peripheral nervous system disorders|disease or disorder of peripheral nervous system|peripheral nerve diseases											ICD9:356.9|SCTID:42658009|DOID:574|ICD10:G64|ICD9:350-359.99|NCIT:C27580|MESH:D010523																		owl:Class
MONDO:0015920	biolink:NamedThing	syndromic neurometabolic disease with X-linked intellectual disability		mondoexuq1wtf												Orphanet:182076|UMLS:CN200518																		owl:Class
MONDO:0012524	biolink:NamedThing	corticosterone methyloxidase type 2 deficiency		mondoexuq1wtf	corticosterone methyloxidase type II deficiency|18-oxidase deficiency|aldosterone deficiency 2|aldosterone deficiency due to deficiency of steroid 18-oxidase|Cmo 2 deficiency|hyperreninemic hypoaldosteronism, familial, 1|steroid 18-oxidase deficiency											UMLS:C3463917|OMIM:610600																		owl:Class
MONDO:0015092	biolink:NamedThing	cleft hard palate		mondoexuq1wtf												SCTID:448915004|Orphanet:101023|ICD10:Q35.1																		owl:Class
MONDO:0016064	biolink:NamedThing	cleft palate	Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.	mondoexuq1wtf	palatoschisis|cleft velum|uranostaphyloschisis											MedDRA:10009269|ICD10:Q35|ICD10:Q35.1|ICD9:749.00|MESH:D002972|ICD10:Q35.3|ICD10:Q35.5|ICD10:Q35.9|SCTID:63567004|DOID:674|ICD9:749.0|ICD10:Q35.7|Orphanet:2014|COHD:135923|UMLS:C0008925|NCIT:C87069																		owl:Class
MONDO:0035133	biolink:NamedThing	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		mondoexuq1wtf												Orphanet:589905																		owl:Class
MONDO:0005801	biolink:NamedThing	human T-lymphotropic virus 1 infectious disease	A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.	mondoexuq1wtf	Human T-lymphotropic virus 1 disease or disorder|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 infectious disease|Human T lymphotropic virus type 1|Human T-lymphotropic virus 1 caused disease or disorder|HTLV-1											MESH:D015490|UMLS:C0020097|GARD:0009645|EFO:0007316																		owl:Class
MONDO:0021605	biolink:NamedThing	benign eyelid neoplasm	A non-metastasizing neoplasm that arises from the upper or lower eyelid.	mondoexuq1wtf	benign eyelid tumor|benign neoplasm of the eyelid|benign neoplasm of eyelid|benign eyelid neoplasm|benign tumor of the eyelid|benign tumor of eyelid|eyelid benign neoplasm											SCTID:231824001|NCIT:C4354|UMLS:C0339107																		owl:Class
MONDO:0003404	biolink:NamedThing	adult yolk sac tumor	A yolk sac tumor that occurs in an adult.	mondoexuq1wtf	yolk sac tumor of adults|adult endodermal sinus tumor|adult yolk Sac neoplasm|adult endodermal sinus neoplasm|adult yolk Sac tumor|yolk Sac tumor											NCIT:C27241|UMLS:C1332221|DOID:5348																		owl:Class
MONDO:0005744	biolink:NamedThing	yolk sac tumor	A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.	mondoexuq1wtf	infantile embryonal carcinoma|endodermal sinus neoplasm|yolk Sac tumor|yolk Sac tumour site unspecified|hepatoid yolk sac tumour|endodermal sinus tumor|yolk Sac neoplasm|yolk Sac tumor site unspecified|yolk sac tumor|yolk SAC tumor, malignant											ICD10:C56|SCTID:404081005|EFO:0007252|NCIT:C3011|ICDO:9071/3|Orphanet:876|DOID:1911|UMLS:C0014145|MedDRA:10048251|ONCOTREE:BYST|ICD10:C62.9																		owl:Class
MONDO:0001993	biolink:NamedThing	seminal vesicle adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the seminal vesicle	mondoexuq1wtf	seminal vesicle adenocarcinoma											DOID:14545|UMLS:C1519233|NCIT:C39906																		owl:Class
MONDO:0004970	biolink:NamedThing	adenocarcinoma	A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.	mondoexuq1wtf	adenocarcinoma|adenocarcinomas|ADNOS|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma, malignant											UMLS:C0001418|MESH:D000230|EFO:0000228|DOID:299|SCTID:443961001|ONCOTREE:ADNOS|NCIT:C2852|ICDO:8140/3|CSP:2000-0386																		owl:Class
MONDO:0009648	biolink:NamedThing	peripheral motor neuropathy-dysautonomia syndrome	Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	mondoexuq1wtf	motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome											MESH:C536988|OMIM:252320|Orphanet:2400|UMLS:C1854961																		owl:Class
MONDO:0002567	biolink:NamedThing	tracheal disease	A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.	mondoexuq1wtf	disease or disorder of trachea|trachea disease|disorder of trachea|tracheal disorder|disease of trachea|trachea disease or disorder											MESH:D014133|NCIT:C35079|SCTID:47125007|DOID:3225|UMLS:C0040580|ICD10:S12.8																		owl:Class
MONDO:0000270	biolink:NamedThing	lower respiratory tract disease	A disease involving the lower respiratory tract.	mondoexuq1wtf	lower respiratory tract disease or disorder|disease or disorder of lower respiratory tract|disease of lower respiratory tract|disorder of lower respiratory tract|lower respiratory tract disease											ICD9:478.1|DOID:0050161|ICD9:478.19|UMLS:C1290325|SCTID:128272009																		owl:Class
MONDO:0005560	biolink:NamedThing	brain disease	A disease affecting the brain or part of the brain.	mondoexuq1wtf	brain disease or disorder|disorder of brain|brain disease|disease or disorder of brain|disease of brain|encephalopathy					Editor note: NCIT has different classes for brain disease and encephalopathy						ICD10:G93.9|UMLS:C0085584|ICD9:348.8|ICD10:G93.40|ICD9:348.9|EFO:0005774|SCTID:81308009|UMLS:C0006111|DOID:936|ICD9:348.30|MESH:D001927|ICD9:348.3|NCIT:C96413																		owl:Class
MONDO:0018098	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.	mondoexuq1wtf	LGMD1E|limb-girdle muscular dystrophy type 1E					Terminology notes: See comments for LGMD1D						GARD:0012529|UMLS:C3148763|ICD10:G71.0|Orphanet:34517																		owl:Class
MONDO:0016187	biolink:NamedThing	qualitative or quantitative defects of desmin		mondoexuq1wtf												Orphanet:209041																		owl:Class
MONDO:0017584	biolink:NamedThing	Sagliker syndrome	A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face	mondoexuq1wtf												UMLS:CN203388|Orphanet:300493																		owl:Class
MONDO:0020369	biolink:NamedThing	Chandler syndrome	Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.	mondoexuq1wtf	Chandler's syndrome|posterior membrane corneal dystrophy|endothelial corneal dystrophy|dystrophy of corneal endothelium											MedDRA:10057487|Orphanet:98979|ICD9:371.57|UMLS:C0544008|GARD:0006033|ICD10:H18.51|DOID:11554|ICD10:H21.2																		owl:Class
MONDO:0018988	biolink:NamedThing	iridocorneal endothelial syndrome	Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications	mondoexuq1wtf	ICE syndrome											Orphanet:64734|MedDRA:10053678|UMLS:CN205427|ICD10:H21.1|UMLS:C1096100|NCIT:C84792|SCTID:129623003|GARD:0000060|MESH:D057129																		owl:Class
MONDO:0022094	biolink:NamedThing	Cartwright Nelson Fryns syndrome		mondoexuq1wtf	Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails											GARD:0001132|UMLS:C2931062|MESH:C535917														https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome				owl:Class
MONDO:0007006	biolink:NamedThing	ulnar neuropathy	Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)	mondoexuq1wtf	ulnar neuropathy|ulnar neuropathy (disorder) [ambiguous]|ulnar nerve mononeuropathy|mononeuropathy of ulnar nerve											SCTID:359837005|DOID:4613|MESH:D020424|UMLS:C0154743|EFO:1001224																		owl:Class
MONDO:0044967	biolink:NamedThing	limb disorder	A disease or disorder that involves the limb.	mondoexuq1wtf	limb disease|disorder of limb|disease of limb|limb disease or disorder|disease or disorder of limb|disorder of extremity											ICD9:V49.1|SCTID:128605003|UMLS:C1290877																		owl:Class
MONDO:0007650	biolink:NamedThing	MALT lymphoma	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)	mondoexuq1wtf	Immunocytoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|Extranodal marginal zone B-cell lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|gastric lymphoma, primary|familial primary gastric lymphoma|MALT lymphoma|MALT-lymphoma|lymphoma, mucosa-associated lymphoid type|mucosa-associated lymphoid tissue lymphoma|MALToma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|lymphoma of mucosa-associated lymphoid tissue											SCTID:277622004|COHD:40482893|OMIM:137245|EFO:0000191|ICD10:C88.4|Orphanet:52417|UMLS:C1850900|NCIT:C3898|GARD:0006485|MedDRA:10060707|ICDO:9699/3|Wikipedia:MALT_lymphoma|DOID:0050909|ONCOTREE:EMALT|UMLS:C0242647|ICD9:202.80																		owl:Class
MONDO:0032741	biolink:NamedThing	neurodevelopmental disorder with impaired speech and hyperkinetic movements		mondoexuq1wtf	NEDISHM|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS											OMIM:618425																		owl:Class
MONDO:0032670	biolink:NamedThing	Diamond-Blackfan anemia 20		mondoexuq1wtf	DIAMOND-BLACKFAN ANEMIA 20|DBA20											OMIM:618313																		owl:Class
MONDO:0015253	biolink:NamedThing	Diamond-Blackfan anemia	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.	mondoexuq1wtf	Blackfan - Diamond syndrome|congenital hypoplastic anemia, Blackfan-Diamond type|Aase-Smith II syndrome|erythrogenesis imperfecta|Aase syndrome|aregenerative anemia chronic congenital|Blackfan Diamond syndrome|congenital hypoplastic anemia|Blackfan-Diamond anemia|congenital PRCA|anemia Diamond Blackfan type|BDS|chronic constitutional pure red cell anaemia|congenital pure red cell aplasia|Red cell aplasia, pure hereditary|anemia congenital erythroid hypoplastic|DBA|inherited erythroblastopenia											MESH:D029503|UMLS:C0265265|SCTID:88854002|ICD10:D61.01|UMLS:C1260899|NCIT:C61236|GARD:0006274|ICD10:D61.0|OMIMPS:105650|MedDRA:10062989|DOID:1339|Orphanet:124																		owl:Class
MONDO:0003314	biolink:NamedThing	endometrioid stromal and related neoplasms of the vagina	A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	mondoexuq1wtf	endometrioid stromal and related neoplasms of the vagina|endometrioid stromal and related neoplasms of vagina|vaginal endometrial stromal tumor|endometrioid stromal and related tumors of the vagina|vagina endometrioid stromal and related neoplasms											UMLS:C4289585|NCIT:C40269|DOID:5171																		owl:Class
MONDO:0021050	biolink:NamedThing	vaginal neoplasm	A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.	mondoexuq1wtf	vagina neoplasm (disease)|tumor of vagina|neoplasm of vagina|vagina neoplasm|vaginal neoplasm|vaginal tumor|neoplasm of the vagina|tumor of the vagina|vagina tumor					Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva						ONCOTREE:VULVA|EFO:1001447|NCIT:C3437|ICD9:239.5|SCTID:126921000																		owl:Class
MONDO:0014594	biolink:NamedThing	autosomal dominant nonsyndromic deafness 67	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.	mondoexuq1wtf	DFNA67|deafness, autosomal dominant type 67|OSBPL2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 67|autosomal dominant nonsyndromic deafness type 67|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|autosomal dominant deafness 67											UMLS:C4084712|ICD10:H90.3|OMIM:616340|DOID:0110588																		owl:Class
MONDO:0011268	biolink:NamedThing	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss		mondoexuq1wtf	renal tubular acidosis, autosomal recessive, with preserved hearing|classical distal RTA|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|type 1 renal tubular acidosis|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included|RTA, distal, autosomal recessive|renal tubular acidosis, autosomal recessive with preserved hearing|RTADR|renal tubular acidosis, distal, autosomal recessive|type 1 RTA|classical distal renal tubular acidosis											OMIM:602722|GARD:0004669																		owl:Class
MONDO:0001909	biolink:NamedThing	renal tubular acidosis	A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.	mondoexuq1wtf												SCTID:1776003|UMLS:C0001126|ICD9:588.89|ICD10:N25.89|GARD:0007552|DOID:14219|MESH:D000141														https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis				owl:Class
MONDO:0001554	biolink:NamedThing	phacogenic glaucoma	Secondary glaucoma caused by either excessive size or spheric shape of the lens.	mondoexuq1wtf	phacomorphic glaucoma|lens swelling glaucoma|lens induced angle closure glaucoma											DOID:12571|COHD:434030|ICD9:365.59|SCTID:392300000|UMLS:C0339590																		owl:Class
MONDO:0020228	biolink:NamedThing	cataract associated with a metabolic disease		mondoexuq1wtf												Orphanet:98644|UMLS:CN207056																		owl:Class
MONDO:0008807	biolink:NamedThing	apnea, central sleep		mondoexuq1wtf	sleep apnea, lethal central|apnea, central sleep					See https://github.com/monarch-initiative/mondo/issues/46						OMIM:207720|UMLS:C0520680|OMIM:107640																		owl:Class
MONDO:0004731	biolink:NamedThing	central sleep apnea syndrome	A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.	mondoexuq1wtf	apnea, central sleep|sleep Apneas, central|Apneas, central sleep|central sleep Apneas|breathing, central sleep-disordered|central Apneas|central alveolar hypoventilation syndrome|central sleep apnea|Apneas, central|primary central sleep apnea|central apnea|apnea, central|central sleep apnea, secondary|secondary central sleep apnea|central sleep disordered breathing|sleep-disordered Breathings, central|sleep disordered breathing, central|central sleep-disordered breathing|alveolar hypoventilations, central|alveolar hypoventilation, central|ondine syndrome|Breathings, central sleep-disordered|central alveolar hypoventilation|hypoventilations, central alveolar|hypoventilation, central alveolar|central sleep apnea syndrome|sleep apnea, lethal central|sleep-disordered breathing, central|central sleep-disordered Breathings|central sleep apnea, primary|apnea, sleep, central											ICD10:G47.31|SCTID:27405005|UMLS:C3887547|ICD9:327.21|MESH:D020182|NCIT:C27169|DOID:9220																		owl:Class
MONDO:0010443	biolink:NamedThing	macular degeneration, X-linked atrophic		mondoexuq1wtf	macular degeneration, X-linked atrophic											UMLS:C3151784|OMIM:300834																		owl:Class
MONDO:0015993	biolink:NamedThing	cone-rod dystrophy	Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.	mondoexuq1wtf	cone-rod retinal dystrophy|cone rod dystrophy											GARD:0010790|ICD10:H35.5|Orphanet:1872|OMIMPS:120970|DOID:0050572																		owl:Class
MONDO:0012378	biolink:NamedThing	fibromatosis, gingival, 3		mondoexuq1wtf	GGF3|gingival fibromatosis, 3|fibromatosis, gingival, 3|GINGF3|hereditary gingival fibromatosis, 3|HGF3|fibromatosis gingival, hereditary, 3|fibromatosis, gingival, hereditary, 3											MESH:C537928|OMIM:609955|GARD:0009911																		owl:Class
MONDO:0016070	biolink:NamedThing	hereditary gingival fibromatosis	Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.	mondoexuq1wtf	hereditary gingival fibromatosis|hereditary gingival hyperplasia|autosomal dominant gingival fibromatosis|autosomal dominant gingival hyperplasia											ICD10:K06.1|SCTID:109620006|UMLS:C0399440|OMIMPS:135300|Orphanet:2024|DOID:0060466																		owl:Class
MONDO:0016693	biolink:NamedThing	subependymal giant cell astrocytoma	A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)	mondoexuq1wtf	subependymal giant cell astrocytic tumor|subependymal giant cell astrocytic neoplasm|SEGA|subependymal giant cell astrocytoma (morphologic abnormality)											Orphanet:251618|DOID:5077|NCIT:C3696|GARD:0010632|ICD10:D43.2|UMLS:C0205768|SCTID:449799008|ICDO:9384/1														https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma				owl:Class
MONDO:0016685	biolink:NamedThing	low-grade astrocytoma		mondoexuq1wtf												Orphanet:251592|MedDRA:10065869																		owl:Class
MONDO:0006611	biolink:NamedThing	skin sarcoidosis	Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.	mondoexuq1wtf	zone of skin sarcoidosis|cutaneous sarcoidosis|cutaneous sarcoid|sarcoidosis of zone of skin											Wikipedia:Cutaneous_manifestations_of_sarcoidosis|COHD:4185547|UMLS:C0036203|DOID:13402|SCTID:55941000|ICD10:D86.3|NCIT:C34996|EFO:1000767																		owl:Class
MONDO:0019338	biolink:NamedThing	sarcoidosis	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.	mondoexuq1wtf	miliary lupoid of boeck|benign lymphogranulomatosis of Schaumann|besnier-Boeck-Schaumann syndrome|Boeck sarcoid|Darier-Roussy sarcoid|lymphogranulomatosis|sarcoidosis|Boeck's sarcoidosis|sarcoid|lupus pernio of Besnier|Besnier-Boeck-Schaumann disease|Boeck's sarcoid					Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease						MESH:D012507|Orphanet:797|UMLS:C0036202|ICD10:D86.1|SCTID:31541009|DOID:11335|ICD10:D86.9|ICD9:135|COHD:438688|ICD10:D86|ICD10:D86.2|ICD10:D86.3|MedDRA:10039486|ICD10:D86.8|ICD10:D86.0|ICD10:D80-D89|NCIT:C34995																		owl:Class
MONDO:0007356	biolink:NamedThing	Lynch syndrome 1	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	mondoexuq1wtf	Hereditary non-polyposis colon cancer type 1|Lynch syndrome type 1|Lynch 1 syndrome|Lynch syndrome 2|COCA1|familial non-polyposis colon cancer type 1|LYNCH syndrome I|hereditary nonpolyposis colorectal cancer type 1|colorectal cancer, hereditary nonpolyposis, type 1|colon cancer, familial nonpolyposis, type 1|HNPCC1											MESH:C537261|OMIM:120435|DOID:0070271|NCIT:C6725																		owl:Class
MONDO:0002770	biolink:NamedThing	vaginal discharge	Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.	mondoexuq1wtf	Discharge, vaginal											NCIT:C50795|MESH:D019522|DOID:3767																		owl:Class
MONDO:0001433	biolink:NamedThing	vaginal disease	A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.	mondoexuq1wtf	disease of vagina|vaginal disorder|vagina disease|disease or disorder of vagina|vaginal disease|disorder of vagina|vagina disease or disorder											SCTID:25658005|MESH:D014623|NCIT:C26910|UMLS:C0042251|DOID:121																		owl:Class
MONDO:0100249	biolink:NamedThing	46,XX testicular disorder of sex development	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.	mondoexuq1wtf	XX sex reversal|46, XX gonadal sex reversal|46,XX testicular disorders of Sex development|XX, male syndrome|XX Male, Sry-positive|46,XX testicular DSD|XX male syndrome|46,XX testicular disorder of sex development|46,XX testicular differences of sex development|De la Chapelle syndrome							http://orcid.org/0000-0001-5208-3432				UMLS:C2936419|NCIT:C127170|ICD10:Q99.1|Orphanet:393|GARD:0000399|MESH:D058531|DOID:0111760|UMLS:CN205000																		owl:Class
MONDO:0002415	biolink:NamedThing	bone carcinoma	A carcinoma that involves the bone element.	mondoexuq1wtf	carcinoma of bone element|bone element carcinoma											DOID:2762																		owl:Class
MONDO:0009442	biolink:NamedThing	ichthyosis congenita with biliary atresia		mondoexuq1wtf	ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia											OMIM:242400|GARD:0002948|MESH:C562886|SCTID:235916001														https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia				owl:Class
MONDO:0006131	biolink:NamedThing	cerebellar liponeurocytoma	A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)	mondoexuq1wtf	lipomatous medulloblastoma (formerly)|cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|CLNC|lipomatous medulloblastoma											SCTID:716592003|UMLS:C1370507|Orphanet:251931|GARD:0010642|EFO:1000159|DOID:6458|ONCOTREE:CLNC|ICDO:0000/0|NCIT:C6905														https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma				owl:Class
MONDO:0016726	biolink:NamedThing	neuronal tumor		mondoexuq1wtf												UMLS:CN201974|Orphanet:251924																		owl:Class
MONDO:0002534	biolink:NamedThing	fallopian tube papilloma	A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.	mondoexuq1wtf	fallopian tube papilloma|fallopian tube serous papilloma											UMLS:C1517123|NCIT:C40112|DOID:3173																		owl:Class
MONDO:0002363	biolink:NamedThing	papilloma	A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.	mondoexuq1wtf	papillomatosis NOS (morphologic abnormality)|papilloma, benign|papilloma|papilloma (except papilloma of bladder M-81201) (morphologic abnormality)											ICDO:8050/0|UMLS:C0030354|MESH:D010212|SCTID:711329002|NCIT:C7440|DOID:2615																		owl:Class
MONDO:0007162	biolink:NamedThing	asymmetric short stature syndrome		mondoexuq1wtf	asymmetric short stature syndrome											MESH:C566248|UMLS:C1862458|OMIM:108450																		owl:Class
MONDO:0003359	biolink:NamedThing	myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	mondoexuq1wtf	myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma											UMLS:C0205816|ICDO:8896/3|DOID:5268|NCIT:C3701																		owl:Class
MONDO:0003165	biolink:NamedThing	cerebellar astrocytoma	Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.	mondoexuq1wtf	cerebellum astrocytoma (excluding glioblastoma)|cerebellar astrocytoma|astrocytoma, cerebellar|astrocytoma of the cerebellum|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum|astrocytoma of cerebellum											DOID:4848|NCIT:C9475|UMLS:C0740480																		owl:Class
MONDO:0002913	biolink:NamedThing	cerebellar neoplasm	A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003	mondoexuq1wtf	cerebellum neoplasm|neoplasm of the cerebellum|cerebellum cancer|tumor of the cerebellum|tumor of cerebellum|malignant tumor of cerebellum|cerebellum tumor|neoplasm of cerebellum|cerebellar tumor|cerebellar neoplasm|cerebellum neoplasm (disease)											MESH:D002528|ICD10:C71.6|SCTID:126960003|ICD9:191.6|DOID:4205|NCIT:C2935|UMLS:C0007762																		owl:Class
MONDO:0019881	biolink:NamedThing	distal trisomy 6q	Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.	mondoexuq1wtf	distal trisomy type 6q|distal duplication 6q|trisomy 6qter|telomeric duplication 6q											Orphanet:96098|SCTID:763275001|MESH:C537810|ICD10:Q92.3																		owl:Class
MONDO:0016957	biolink:NamedThing	partial duplication of the long arm of chromosome 6	Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome 6q duplication|partial trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy of the long arm of chromosome 6|Duplication 6q|trisomy 6q|partial trisomy of chromosome 6q|6q trisomy|6q duplication|partial duplication of chromosome 6q											GARD:0005353|Orphanet:262878|MESH:C537812																		owl:Class
MONDO:0007970	biolink:NamedThing	melorheostosis	Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.	mondoexuq1wtf	melorheostosis, isolated|Mel											ICD9:756.89|MedDRA:10050284|Orphanet:2485|ICD10:M85.8|OMIM:155950|UMLS:C0025239|NCIT:C84887|MESH:D008557|GARD:0009474|DOID:4253|SCTID:44697002														https://rarediseases.info.nih.gov/diseases/9474/melorheostosis				owl:Class
MONDO:0017198	biolink:NamedThing	osteopetrosis	Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.	mondoexuq1wtf	marble bone|marble bones|osteosclerosis fragilis|Albers-Schonberg disease|osteopetrosis (disease)|osteopetrosis|Albers-Schoenberg disease|osteopetrosis and related disorders|marble bone disease|osteopetroses		osteopetrosis (disease)									OMIMPS:259700|GARD:0004155|SCTID:1926006|HP:0011002|Orphanet:2781|NCIT:C26840|ICD10:Q78.2|MedDRA:10031280|COHD:81403|DOID:13533|ICD9:756.52																		owl:Class
MONDO:0004546	biolink:NamedThing	lumbar plexus neoplasm	A neoplasm (disease) that involves the lumbar nerve plexus.	mondoexuq1wtf	neoplasm of the lumbar plexus|lumbar nerve plexus neoplasm|tumor of lumbar nerve plexus|tumor of lumbar plexus|neoplasm of lumbar plexus|lumbar nerve plexus neoplasm (disease)|lumbar plexus neoplasms|tumor of the lumbar plexus|lumbar nerve plexus tumor|neoplasm of lumbar nerve plexus|lumbar plexus tumor											NCIT:C5824|DOID:8389|UMLS:C1334437																		owl:Class
MONDO:0001829	biolink:NamedThing	lumbosacral plexus lesion	A nerve plexus disease that involves the lumbosacral nerve plexus.	mondoexuq1wtf	nerve plexus disease of lumbosacral nerve plexus|lumbosacral nerve plexus nerve plexus disease|lumbosacral plexus lesions											SCTID:4062006|DOID:13913|COHD:197852|UMLS:C0154735|ICD9:353.1																		owl:Class
MONDO:0009294	biolink:NamedThing	glycogen storage disease VI	Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.	mondoexuq1wtf	PYGL glycogen storage disease|glycogenosis type VI|glycogen storage disease type VI|liver glycogen phosphorylase deficiency|GSD type 6|GSD type VI|glycogen storage disease caused by mutation in PYGL|hepatic phosphorylase deficiency|glycogen storage disease type 6|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|glycogen storage disease 6|glycogen storage disease VI|hers' disease|glycogenosis due to liver glycogen phosphorylase deficiency|hepatophosphorylase deficiency glycogenosis|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease due to liver glycogen phosphorylase deficiency|phosphorylase deficiency glycogen-storage disease of liver|hers disease|GSD 6|GSD6											UMLS:C0017925|GARD:0006529|MedDRA:10053240|NCIT:C126875|OMIM:232700|MESH:D006013|SCTID:29291001|ICD10:E74.09|ICD10:E74.0|DOID:2754|Orphanet:369																		owl:Class
MONDO:0021345	biolink:NamedThing	carcinoma of pharynx	A carcinoma that involves the pharynx.	mondoexuq1wtf	carcinoma of pharynx|carcinoma of the pharynx|pharynx carcinoma|pharyngeal throat cancer|cancer of the pharynx|pharyngeal carcinoma											SCTID:449254004|NCIT:C9466																		owl:Class
MONDO:0017793	biolink:NamedThing	marfanoid habitus-inguinal hernia-advanced bone age syndrome		mondoexuq1wtf												Orphanet:314041|UMLS:CN203743																		owl:Class
MONDO:0013646	biolink:NamedThing	chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	mondoexuq1wtf	8q21.11 microdeletion syndrome|deletion 8q21.11|monosomy 8q21.11|chromosome 8q21.11 deletion syndrome|Del(8)(q21.11)											UMLS:C3280231|ICD10:Q93.5|SCTID:718615003|Orphanet:284160|DOID:0060425|OMIM:614230|UMLS:C4305343																		owl:Class
MONDO:0011131	biolink:NamedThing	tricho-oculo-dermo-vertebral syndrome		mondoexuq1wtf	arthrogryposis and ectodermal dysplasia|Trichooculodermovertebral syndrome|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Alves-dos Santos-Castelo syndrome|Alves syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|Todv syndrome											OMIM:601701|GARD:0001553|Orphanet:3354|MESH:C537441																		owl:Class
MONDO:0002051	biolink:NamedThing	integumentary system disease	A disease involving the integumental system.	mondoexuq1wtf	disorder of integument|integumentary disease|disease of integumental system|integumental system disease|disorder of integumental system|disease or disorder of integumental system|integumental system disease or disorder										MONDO:0045027	SCTID:128598002|UMLS:C1290011|DOID:16																		owl:Class
MONDO:0015152	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive form of limb-girdle muscular dystrophy.	mondoexuq1wtf	limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive											DOID:0110274|OMIMPS:253600|Orphanet:102015|ICD10:G71.0|MESH:C538640|UMLS:C2931907																		owl:Class
MONDO:0007116	biolink:NamedThing	hereditary neurocutaneous angioma	Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.	mondoexuq1wtf	angioma hereditary neurocutaneous|hereditary neurocutaneous malformation|hemangiomatosis, disseminated|hereditary neurocutaneous angioma|angioma, hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas											GARD:0000676|OMIM:106070|Orphanet:1062|ICD10:D18.0																		owl:Class
MONDO:0032570	biolink:NamedThing	Joubert syndrome 35		mondoexuq1wtf	JOUBERT SYNDROME 35|JBTS35											OMIM:618161																		owl:Class
MONDO:0012767	biolink:NamedThing	age related macular degeneration 11	Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.	mondoexuq1wtf	macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|macular degeneration, age-related, 11|ARMD11|age-related macular degeneration caused by mutation in CST3|age related macular degeneration type 11											MESH:C567450|DOID:0110023|OMIM:611953|UMLS:C2677774																		owl:Class
MONDO:0001763	biolink:NamedThing	ethmoid sinus cancer	A malignant neoplasm involving the ethmoid sinus.	mondoexuq1wtf	malignant ethmoid sinus neoplasm|malignant ethmoidal sinus tumor|malignant neoplasm of ethmoid sinus|malignant ethmoidal sinus neoplasm|malignant neoplasm of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|cancer of ethmoid sinus|malignant tumor of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant tumor of ethmoidal sinus|ethmoid sinus cancer|malignant ethmoid sinus tumor|malignant tumor of the ethmoid sinus|malignant neoplasm of the ethmoidal sinus											ICD10:C31.1|UMLS:C0153477|DOID:1363|ICD9:160.3|SCTID:363426009|NCIT:C3541																		owl:Class
MONDO:0000380	biolink:NamedThing	paranasal sinus carcinoma	A malignant epithelial neoplasm arising in the paranasal sinus.	mondoexuq1wtf	epidermoid carcinoma of the paranasal sinus|paranasal sinus mucoepidermoid carcinoma|adenoid cystic carcinoma of paranasal sinus|malignant neoplasm of paranasal sinus|carcinoma of paranasal sinus|cancer of paranasal sinus|paranasal sinus cancer|paranasal sinus adenoid cystic carcinoma|carcinoma of the paranasal sinus|malignant paranasal sinus neoplasm|paranasal sinus squamous cell carcinoma|paranasal sinus carcinoma|paranasal sinus adenocarcinoma|carcinoma of the accessory sinus|squamous cell carcinoma of paranasal sinus|accessory sinus cancer|accessory sinus carcinoma|carcinoma of accessory sinus|mucoepidermoid carcinoma of accessory sinus|adenoid cystic carcinoma of accessory sinus											DOID:0050619|NCIT:C6014|UMLS:C0854995																		owl:Class
MONDO:0004866	biolink:NamedThing	eustachian tube disease	A disease involving the pharyngotympanic tube.	mondoexuq1wtf	disease of eustachian tube|pharyngotympanic tube disease|disease or disorder of pharyngotympanic tube|disorder of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease or disorder|disease of pharyngotympanic tube|auditory tube disorder|disorder of eustachian tube											DOID:9739|SCTID:69494008|ICD9:381.9|ICD9:381.8|UMLS:C0271468|ICD9:381.89|ICD10:H68																		owl:Class
MONDO:0003276	biolink:NamedThing	middle ear disease	A disease involving the middle ear.	mondoexuq1wtf	disease or disorder of middle ear|middle ear disease or disorder|disease of middle ear|disorder of middle ear|middle ear disease|middle Ear disorder											SCTID:68996008|DOID:5100|COHD:374364|UMLS:C0271428|NCIT:C27065																		owl:Class
MONDO:0032648	biolink:NamedThing	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		mondoexuq1wtf	MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS|MCCCHCM											OMIM:618273|DOID:0111403																		owl:Class
MONDO:0016558	biolink:NamedThing	familial congenital mirror movements	Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.	mondoexuq1wtf	CMM|congenital mirror movement disorder|congenital mirror movements|isolated congenital mirror movements|bimanual synkinesis|isolated congenital controlateral synkinesia|familial congenital mirror movements|familial congenital controlateral synkinesia|hereditary congenital controlateral synkinesia|hereditary congenital mirror movements										MONDO:0000140	Orphanet:238722|DC:0000563|GARD:0012551|OMIMPS:157600|SCTID:229247004|DOID:0111153																		owl:Class
MONDO:0100075	biolink:NamedThing	jaw fracture	A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken.	mondoexuq1wtf	lower jaw fracture|upper jaw fracture				2019-02-06 06:57:26+00:00			http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0005315	biolink:NamedThing	bone fracture	Breaks in bones.	mondoexuq1wtf	fracture|fracture(s)|fracture of bone											NCIT:C3046|MESH:D050723|COHD:75053|EFO:0003931|SCTID:125605004																		owl:Class
MONDO:0011085	biolink:NamedThing	Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	mondoexuq1wtf	Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|Charcot-Marie-Tooth neuropathy type 4D|HMSNL|Charcot-Marie-Tooth disease, type 4D|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|HMSN, Lom type|hereditary motor ABD sensory neuropathy Lom type|hereditary motor and sensory neuropathy, Lom type|CMT4D|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|HMSN4D|NDRG1 Charcot-Marie-Tooth disease type 4|HMSN Lom type|NMSL|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth neuropathy, type 4D|HMSN-Lom											SCTID:715798007|OMIM:601455|ICD10:G60.0|GARD:0003973|DOID:0110186|UMLS:C1832334|Orphanet:99950|MESH:C535716														https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d				owl:Class
MONDO:0018995	biolink:NamedThing	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	mondoexuq1wtf	AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth|CMT4											Orphanet:64749|UMLS:CN043578|GARD:0012440|SCTID:715795005|ICD10:G60.0|DOID:0050541																		owl:Class
MONDO:0010404	biolink:NamedThing	X-linked non progressive cerebellar ataxia	X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	mondoexuq1wtf	SCAX5|X-linked spinocerebellar ataxia type 5|spinocerebellar ataxia, X-linked 5											ICD10:G11.0|MESH:C567478|SCTID:766818009|OMIM:300703|Orphanet:314978|UMLS:C2678048																		owl:Class
MONDO:0016612	biolink:NamedThing	X-linked cerebellar ataxia	X-linked form of cerebellar ataxia.	mondoexuq1wtf	cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia										MONDO:0000559	ICD10:G11.1|DOID:0050953|Orphanet:247765																		owl:Class
MONDO:0025271	biolink:NamedThing	trypanosomiasis, bovine	Infection in cattle caused by various species of trypanosomes.	mondoexuq1wtf	bovine Trypanosomiases|bovine trypanosomiasis|Trypanosomiases, bovine											UMLS:C0041230|MESH:D014354																		owl:Class
MONDO:0017700	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form		mondoexuq1wtf	GBE deficiency, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type IV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|GSD type 4, childhood neuromuscular form											UMLS:C1856305|ICD10:E74.0|Orphanet:308698																		owl:Class
MONDO:0009292	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.	mondoexuq1wtf	GSD due to glycogen branching enzyme deficiency|amylopectinosis|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease IV|glycogen branching enzyme deficiency|Andersen's disease|GSD type 4|GSD 4|glycogenosis type IV|cirrhosis, familial, with deposition of abnormal glycogen|branching-transferase deficiency glycogenosis|GBE1 glycogen storage disease|glycogen storage disease, type IV|glycogenosis 4|GSD IV, neuromuscular form, fatal perinatal|GSD IV|Gbe1 deficiency|glycogenosis due to glycogen branching enzyme deficiency|glycogen storage disease type 4|Andersen disease|glycogen storage disease 4|GSD4|GSD IV, nonprogressive hepatic|glycogen storage disease caused by mutation in GBE1|GSD IV, neuromuscular form, congenital|glycogen storage disease type IV|glycogenosis type 4|GSD IV, neuromuscular form, adult, with isolated myopathy|GSD type IV|brancher deficiency|GSD IV, classic hepatic|brancher deficiency glycogenosis|GSD IV, neuromuscular form, childhood											DOID:2750|UMLS:CN204783|GARD:0002520|UMLS:C0017923|ICD10:E74.09|NCIT:C84737|ICD10:E74.0|MedDRA:10053249|OMIM:232500|Orphanet:367|SCTID:124267007|ICD9:277.6																		owl:Class
MONDO:0023171	biolink:NamedThing	foix chavany Marie syndrome	Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.	mondoexuq1wtf	anterior opercular syndrome|bilateral anterior opercular syndrome|foix chavany Marie syndrome|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|facio-pharyngo-glosso-masticatory diplegia|opercular syndrome, anterior|congenital Foix-Chavany-Marie syndrome (subtype)|pseudobulbar paralysis, cortical type|congenital Foix-Chavany-Marie syndrome|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis											GARD:0002351|Orphanet:2048|MESH:C537069|SCTID:720956003|UMLS:C2931412														https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome				owl:Class
MONDO:0015181	biolink:NamedThing	congenital intestinal disease due to an enzymatic defect		mondoexuq1wtf												Orphanet:104006																		owl:Class
MONDO:0005020	biolink:NamedThing	intestinal disease	A non-neoplastic or neoplastic disorder that affects the small or large intestine.	mondoexuq1wtf	intestine disease or disorder|intestinal disease|diseases, intestinal|disease or disorder of intestine|intestinal disorder|disease, intestinal|intestine disease|disorder of intestine|disease of intestine											ICD9:569.49|ICD9:570-579.99|SCTID:85919009|ICD9:569.9|ICD9:569.89|ICD9:520-579.99|ICD9:564.4|ICD9:560-569.99|ICD9:569|ICD9:564|ICD9:569.4|DOID:5295|ICD10:K63.9|NCIT:C26801|MESH:D007410|ICD9:575																		owl:Class
MONDO:0010466	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 2	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 20|MCAHS2|DEE20|glycosylphosphatidylinositol biosynthesis defect 4|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|multiple congenital anomalies-hypotonia-seizures syndrome type 2|multiple congenital anomalies-hypotonia-seizures syndrome 2|developmental and epileptic encephalopathy 20|GPIBD4|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability|MCAHS type 2											OMIM:300868|DOID:0080139|ICD10:Q87.8|Orphanet:300496|GARD:0012777|UMLS:C3275508																		owl:Class
MONDO:0021571	biolink:NamedThing	multiple sclerosis, susceptibility to 1		mondoexuq1wtf	multiple sclerosis, susceptibility to|MS|multiple sclerosis, susceptibility to, 1|susceptibility to multiple sclerosis|MS1|disseminated sclerosis											OMIM:126200|UMLS:CN031763																		owl:Class
MONDO:0007462	biolink:NamedThing	multiple sclerosis, susceptibility to		mondoexuq1wtf	MS|disseminated sclerosis											OMIMPS:126200																		owl:Class
MONDO:0010578	biolink:NamedThing	deafness dystonia syndrome	Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.	mondoexuq1wtf	deafness-dystonia-optic neuronopathy (DDON) syndrome|Mohr-Tranebjaerg syndrome|dystonia deafness syndrome|deafness dystonia optic neuronopathy syndrome|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic neuronopathy syndrome|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|deafness-Dystonia-optic atrophy syndrome|DDP|DDON syndrome|MTS|deafness dystonia optic neuronopathy syndrome (DDON)|MOHR-Tranebjaerg syndrome|deafness - dystonia - optic neuronopathy syndrome											SCTID:702423009|ICD9:759.89|OMIM:304700|Orphanet:52368|UMLS:C0796074|ICD10:G31.8|MESH:C535808|GARD:0008331|DOID:0050757																		owl:Class
MONDO:0004884	biolink:NamedThing	eye degenerative disease	A neurodegenerative disease that involves the eye.	mondoexuq1wtf	eyeball of camera-type eye neurodegenerative disease|degenerative disorder of eye|eye neurodegenerative disease|degenerative disorder of globe|neurodegenerative disease of eyeball of camera-type eye											UMLS:C0154777|ICD9:360.2|ICD9:360.20|DOID:9799|ICD9:360.29|ICD9:360.4|ICD10:H44.5|SCTID:62585004|ICD9:360.40|ICD10:H44.30																		owl:Class
MONDO:0009242	biolink:NamedThing	brittle cornea syndrome	Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	mondoexuq1wtf	Ehlers-Danlos syndrome type 6b|type VIB Ehlers-Danlos syndrome|BCS1|Ehlers-Danlos syndrome type 6B (formerly)|brittle cornea syndrome type 1|brittle cornea syndrome|EDS VIB (formerly)|brittle cornea syndrome 1|kyphoscoliosis type|brittle cornea syndrome 2											GARD:0001019|DOID:14775|Orphanet:90354|OMIMPS:229200|ICD10:Q79.6|SCTID:719096006														https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome				owl:Class
MONDO:0001017	biolink:NamedThing	epididymal adenocarcinoma	A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.	mondoexuq1wtf	adenocarcinoma of the epididymis|epididymis adenocarcinoma|epididymal adenocarcinoma											NCIT:C39957|DOID:10368|UMLS:C1510784																		owl:Class
MONDO:0001016	biolink:NamedThing	epididymis cancer	A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.	mondoexuq1wtf	malignant tumor of epididymis|malignant epididymis neoplasm|epididymis cancer|malignant epididymal tumor|malignant neoplasm of epididymis|cancer of epididymis|malignant epididymal neoplasm|malignant tumor of the epididymis|malignant neoplasm of the epididymis											ICD10:C63.0|UMLS:C0153602|SCTID:363452003|NCIT:C3558|DOID:10366|ICD9:187.5																		owl:Class
MONDO:0001567	biolink:NamedThing	nephrocalcinosis	Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.	mondoexuq1wtf	hypercalcemic nephropathy											NCIT:C84918|MESH:D009397|GARD:0007177|ICD9:275.49|DOID:12679|UMLS:C0027709|SCTID:48638002														https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis				owl:Class
MONDO:0002123	biolink:NamedThing	calcinosis	Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.	mondoexuq1wtf	pathologic calcification|calcium deposit(s)|pathologically calcified structure|deposit(s), calcium|macrocalcification|calcification											EFO:0003837|HP:0003761|NCIT:C3672|ICD9:275.49|MESH:D002114|DOID:182|SCTID:6595006																		owl:Class
MONDO:0002867	biolink:NamedThing	pancreatic cystadenocarcinoma	A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.	mondoexuq1wtf	cystadenocarcinoma - pancreas|pancreas cystadenocarcinoma|acinar cell cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma of the pancreas|cystadenocarcinoma of pancreas											NCIT:C3874|SCTID:235966007|UMLS:C0238337|DOID:4073																		owl:Class
MONDO:0005596	biolink:NamedThing	cystadenocarcinoma	A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.	mondoexuq1wtf	cystadenocarcinoma|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma, malignant											MESH:D003536|DOID:3111|EFO:0006387|NCIT:C2971|UMLS:C0010631|ICDO:8440/3																		owl:Class
MONDO:0003264	biolink:NamedThing	basosquamous carcinoma	A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.	mondoexuq1wtf	metatypical carcinoma (morphologic abnormality)|basosquamous carcinoma|Basisquamous cell carcinoma|basosquamous cell carcinoma|skin basosquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|metatypical carcinoma|basosquamous tumor, malignant										MONDO:0006413	ICDO:8094/3|UMLS:C0007118|NCIT:C2922|EFO:1000529|MESH:D002281|DOID:5063																		owl:Class
MONDO:0005341	biolink:NamedThing	skin basal cell carcinoma	The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.	mondoexuq1wtf	basal cell cancer|basal cell carcinoma|basal cell carcinoma of skin|BCC|basal cell skin carcinoma|basal cell epithelioma|basal cell tumor|epithelioma basal cell|basal cell carcinoma of the skin|skin basal cell cancer|skin basal cell carcinoma											CSP:2000-2719|COHD:4112752|ICDO:8090/3|UMLS:C0751676|UMLS:C0007117|ONCOTREE:BCC|DOID:2513|KEGG:05217|UMLS:C0206710|SCTID:254701007|HP:0002671|EFO:0004193|NCIT:C2921																		owl:Class
MONDO:0003356	biolink:NamedThing	epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	mondoexuq1wtf	epithelioid leiomyosarcoma											NCIT:C3700|ICDO:8891/3|UMLS:C0205815|DOID:5264																		owl:Class
MONDO:0013809	biolink:NamedThing	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome		mondoexuq1wtf	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS											OMIM:614575|UMLS:C3281223																		owl:Class
MONDO:0019213	biolink:NamedThing	cerebral organic aciduria	A inherited organic acidemia that involves the brain.	mondoexuq1wtf	inherited organic acidemia of brain|brain inherited organic acidemia											Orphanet:79158																		owl:Class
MONDO:0000688	biolink:NamedThing	inherited organic acidemia	An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.	mondoexuq1wtf	disorder of organic acid metabolism|rare inborn error of organic acid metabolic process|organic acid metabolism disorder|inborn error of organic acid metabolic process|organic acidemia|inborn organic acid metabolic process disorder|organic aciduria											UMLS:C1263739|GARD:0009433|Orphanet:289899|NCIT:C101334|DOID:0060159|ICD9:277.89														https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia				owl:Class
MONDO:0023528	biolink:NamedThing	KSHV inflammatory cytokine syndrome	A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.	mondoexuq1wtf	KICS|KSHV inflammatory cytokine syndrome|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome											NCIT:C125711|UMLS:C4086533|GARD:0010827														https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome				owl:Class
MONDO:0021670	biolink:NamedThing	post-infectious syndrome		mondoexuq1wtf																														owl:Class
MONDO:0003816	biolink:NamedThing	articular cartilage disease	A disease involving the articular cartilage of joint.	mondoexuq1wtf	articular cartilage disorder involving upper arm|articular cartilage of joint disease or disorder|articular cartilage disorder involving pelvic region and thigh|disorder of articular cartilage|disease or disorder of articular cartilage of joint|articular cartilage of joint disease|articular cartilage disorder involving multiple sites|articular cartilage disorder of the pelvic region and thigh|articular cartilage disorder involving forearm|disease of articular cartilage of joint|articular cartilage disorder involving hand|articular cartilage disorder involving ankle and foot|articular cartilage disorder of shoulder region|articular cartilage disorder involving shoulder region|articular cartilage disorder of ankle and/or foot|disorder of articular cartilage of joint|articular cartilage disorder of forearm|articular cartilage disorder of hand|articular cartilage disorder of multiple sites|articular cartilage disorder of upper arm|articular cartilage disorder											ICD9:718.0|DOID:6227|ICD9:718.02|SCTID:53417006|UMLS:C0158073|ICD9:718.00																		owl:Class
MONDO:0006816	biolink:NamedThing	arthropathy	Any disorder of the joints.	mondoexuq1wtf	disorder of skeletal joint|arthrosis|Joint ankylosis of the ankle and/or foot|ankylosis of joint of upper arm|infectious arthropathy|Joint ankylosis of the shoulder region|Joint ankylosis of the pelvic region and thigh|ankylosis of joint of lower leg|disease of skeletal joint|ankylosis of multiple joints|disease or disorder of skeletal joint|ankylosis of joint of hand|ankylosis of joint of pelvic region and thigh|Joint disorder|ankylosis of lower leg joint|arthropathy|ankylosis of forearm joint|Joint ankylosis of the hand|Joint ankylosis of the upper arm|Joint ankylosis of the lower leg|ankylosis of joint of shoulder region|joint disorder|skeletal joint disease or disorder|disorder of joint|skeletal joint disease|joint disease|disorder, Joint|ankylosis of hand joint|ankylosis of joint of ankle and/or foot|ankylosis of joint of forearm|Joint ankylosis of the forearm|Joint ankylosis of the ankle and foot|ankylosis of upper arm joint|ankylosis of joint of multiple sites|ankylosis of ankle and foot joint											ICD9:719.9|ICD9:716.80|ICD9:719.88|ICD9:716.90|NCIT:C35760|UMLS:C0022408|SCTID:399269003|ICD9:716.9|COHD:73553|ICD9:719.80|ICD9:719.89|ICD10:M12.9|ICD10:M19.90|MESH:D007592|ICD10:M15.M19|ICD10:M25.9|MedDRA:10003285|ICD9:719.90|ICD9:719.98|DOID:381|ICD9:716.88|ICD10:M00-M02|ICD9:711|EFO:1000999|ICD9:716.98																		owl:Class
MONDO:0005166	biolink:NamedThing	osteoma	A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.	mondoexuq1wtf	osteoma, benign|osteoma (disease)|osteoma		osteoma (disease)									SCTID:302858007|UMLS:C0029440|EFO:0002423|ICDO:9180/0|HP:0100246|MESH:D010016|NCIT:C3296																		owl:Class
MONDO:0000631	biolink:NamedThing	bone benign neoplasm	A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.	mondoexuq1wtf	benign neoplasm of the bone|benign tumor of bone|bone tissue benign neoplasm|benign bone neoplasm|benign tumor of the bone|benign neoplasm of bone|benign bone tumor|benign osseous tumor|benign osseous neoplasm											ICD9:213.9|SCTID:92027006|COHD:74606|NCIT:C4880|DOID:0060094																		owl:Class
MONDO:0019656	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		mondoexuq1wtf												Orphanet:93220|ICD10:N04.8|UMLS:CN206529																		owl:Class
MONDO:0019401	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome	Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.	mondoexuq1wtf	sporadic idiopathic nephrosis											SCTID:717191005|ICD10:N04.3|Orphanet:84271|UMLS:C4274017|ICD10:N04.1|ICD10:N04.8																		owl:Class
MONDO:0003599	biolink:NamedThing	vulvar liposarcoma	A rare malignant adipose tissue neoplasm of the vulva.	mondoexuq1wtf	liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma											DOID:5711|NCIT:C40321|UMLS:C2184082																		owl:Class
MONDO:0000248	biolink:NamedThing	dengue shock syndrome	A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.	mondoexuq1wtf	DSS											UMLS:C0376300|MESH:D019595|DOID:0050125|SCTID:409671005																		owl:Class
MONDO:0020702	biolink:NamedThing	autosomal dominant epidermolytic ichthyosis		mondoexuq1wtf																														owl:Class
MONDO:0007239	biolink:NamedThing	epidermolytic hyperkeratosis	Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.	mondoexuq1wtf	epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|bullous ichthyosiform erythroderma|bullous ichthyosis|bullous ichthyosiform erythroderma congenita|EHK|epidermolytic ichthyosis|ichthyosis hystrix Brocq type|epidermolytic hyperkeratosis|bullous congenital ichthyosiform erythroderma of Brock|BCIE|EI|bullous congenital ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|epidermolytic palmoplantar hyperkeratosis|bullous erythroderma Ichthyosiformis congenita of Brocq					Editor note: check this. Should there be a generic form as well as AD form? Form for each gene?						SCTID:254167000|MESH:D017488|NCIT:C62569|OMIM:113800|ICD10:Q80.3|GARD:0001039|Orphanet:312|DOID:4603																		owl:Class
MONDO:0044807	biolink:NamedThing	inherited dystonia	An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder|rare genetic dystonia											NCIT:C35527|Orphanet:391799|OMIMPS:128100|UMLS:CN227322																		owl:Class
MONDO:0044339	biolink:NamedThing	lumbar disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the lumbar spine.	mondoexuq1wtf	degeneration of lumbar intervertebral disc|degenerative disc disorder|lumbar Disc Degeneration|lumbar region of vertebral column intervertebral disc degenerative disorder|intervertebral DISC disease|lumbar disc disease|lumbar Disc degenerative disorder|intervertebral disc disease|lumbar disc degeneration, susceptibility to|intervertebral disc degenerative disorder of lumbar region of vertebral column|IDD|lumbar Disc degenerative disease|lumbar disc herniation, susceptibility to|degenerative disc disease											MESH:C535531|NCIT:C27154|EFO:0004994|OMIM:603932|SCTID:26538006																		owl:Class
MONDO:0011385	biolink:NamedThing	intervertebral disc degenerative disorder	Any disease of a degenerative nature that affects the intervertebral disc.	mondoexuq1wtf	intervertebral Disc degenerative disease|intervertebral Disc degenerative disorder|intervertebral Disc Degeneration|IDD|vertebral Disc degenerative disorder|degenerative disc disease|intervertebral disc disease|cervical disc degenerative disease|intervertebral disk degenerative disorder|lumbar disc degeneration|intervertebral disc degeneration|degenerative disorder of intervertebral disk|vertebral disc disease|vertebral Disc degenerative disease											DOID:90|ICD9:722.6|COHD:80816|MESH:D055959|SCTID:77547008|UMLS:C0158266|NCIT:C26983																		owl:Class
MONDO:0020225	biolink:NamedThing	syndromic cataract	A cataract (disease) that is part of a larger syndrome.	mondoexuq1wtf	syndromic cataract (disease)|syndrome associated with cataract (disease)											Orphanet:98641|UMLS:CN227829																		owl:Class
MONDO:0015354	biolink:NamedThing	hereditary sensory and autonomic neuropathy with deafness and global delay	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	mondoexuq1wtf	HSAN with deafness and global delay											UMLS:CN226662|ICD10:G60.8|SCTID:717826009|UMLS:C4303566|Orphanet:139573																		owl:Class
MONDO:0012460	biolink:NamedThing	autosomal recessive nonsyndromic deafness 67	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.	mondoexuq1wtf	LHFPL5 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 67|DFNB67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive type 67|autosomal recessive nonsyndromic deafness type 67|deafness, autosomal recessive 67											MESH:C565207|DOID:0110518|OMIM:610265|ICD10:H90.3|UMLS:C1853223																		owl:Class
MONDO:0021635	biolink:NamedThing	neurocristopathy	That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.	mondoexuq1wtf	disorder of neural crest development|neural crest cell development disease|disorder of neural crest cell development																													owl:Class
MONDO:0015657	biolink:NamedThing	inflammatory and autoimmune disease with epilepsy		mondoexuq1wtf												UMLS:CN200066|Orphanet:166484																		owl:Class
MONDO:0003360	biolink:NamedThing	small intestine leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the small bowel|leiomyosarcoma of the small intestine|leiomyosarcoma of small bowel|small bowel leiomyosarcoma|smooth muscle connective tissue tumor|small intestinal leiomyosarcoma|leiomyosarcoma of small intestine|small intestine leiomyosarcoma											SCTID:716651004|ICD10:C17.1|Orphanet:104076|NCIT:C7085|DOID:5271|UMLS:C0920305|ICD10:C17.0|ICD10:C17.3|ICD10:C17.2|ICD10:C17.8																		owl:Class
MONDO:0003361	biolink:NamedThing	small intestinal sarcoma	A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.	mondoexuq1wtf	sarcoma of the small intestine|small bowel sarcoma|small intestinal sarcoma|sarcoma of small bowel|sarcoma of small intestine|sarcoma of the small bowel|small intestine sarcoma|sarcoma, small intestinal											NCIT:C5335|DOID:5272|UMLS:C1336007																		owl:Class
MONDO:0020724	biolink:NamedThing	cerebral cavernous malformation 1		mondoexuq1wtf	hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cavernous angioma, familial|cerebral capillary malformations|CCM|cavernous angiomatous malformations|cerebral cavernous malformations|familial cerebral cavernous malformation 1|cavernous malformations of CNS and retina|cerebral cavernous malformations 1											DOID:0080491|OMIM:116860																		owl:Class
MONDO:0013679	biolink:NamedThing	sclerosteosis 2	Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.	mondoexuq1wtf	LRP4 sclerosteosis|SOST2|sclerosteosis 2|sclerosteosis caused by mutation in LRP4|sclerosteosis type 2											DOID:0060757|UMLS:C3280402|OMIM:614305|ICD10:M85.2																		owl:Class
MONDO:0017838	biolink:NamedThing	sclerosteosis	Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.	mondoexuq1wtf	cortical hyperostosis with syndactyly|cortical hyperostosis-syndactyly syndrome											SCTID:17568006|MESH:C537525|DOID:0060251|NCIT:C131133|UMLS:C0265301|GARD:0004771|OMIMPS:269500|Orphanet:3152|ICD10:M85.2|ICD9:756.59																		owl:Class
MONDO:0021383	biolink:NamedThing	neoplasm of floor of mouth	A neoplasm (disease) that involves the mouth floor.	mondoexuq1wtf	floor of mouth tumor|neoplasm of the floor of the mouth|tumor of floor of mouth|floor of mouth neoplasm|tumor of mouth floor|mouth floor tumor|neoplasm of mouth floor|mouth floor neoplasm|floor of the mouth tumor|mouth floor neoplasm (disease)|floor of the mouth neoplasm|tumor of the floor of the mouth											SCTID:126799003|UMLS:C0345538|NCIT:C4401																		owl:Class
MONDO:0021223	biolink:NamedThing	digestive system neoplasm	A neoplasm (disease) that involves the digestive system.	mondoexuq1wtf	neoplasm of GI system|digestive system tumor|tumor of the gastrointestinal system|neoplasm of the digestive system|neoplasm of the GI system|gastrointestinal tumor|GI neoplasm|gastrointestinal neoplasm|digestive neoplasm|gastrointestinal system tumor|digestive system neoplasm (disease)|tumor of GI system|neoplasm of gastrointestinal system|tumor of the GI system|GI tumor|digestive tumor|neoplasm of digestive system|tumor of gastrointestinal system|GI system neoplasm|tumor of digestive system|GI system tumor|neoplasm of the gastrointestinal system|gastrointestinal system neoplasm|tumor of the digestive system											EFO:0008549|NCIT:C3052|MESH:D005770																		owl:Class
MONDO:0015637	biolink:NamedThing	benign non-familial infantile seizures		mondoexuq1wtf												Orphanet:166295|ICD10:G40.4|UMLS:CN226716																		owl:Class
MONDO:0015642	biolink:NamedThing	benign partial infantile seizures		mondoexuq1wtf												Orphanet:166311																		owl:Class
MONDO:0016990	biolink:NamedThing	acquired prothrombin deficiency	An instance of prothrombin deficiency that is acquired during the lifetime of the individual.	mondoexuq1wtf	hypoprothrombinemia, acquired|acquired prothrombin deficiency|acquired factor II deficiency|acquired hypoprothrombinemia											ICD10:D68.4|Orphanet:26348|MESH:C538174|NCIT:C131622|UMLS:C0392610|SCTID:4152002|GARD:0000475																		owl:Class
MONDO:0024307	biolink:NamedThing	prothrombin deficiency		mondoexuq1wtf																														owl:Class
MONDO:0005621	biolink:NamedThing	vascular brain injury	Damage to the blood vessels of the brain	mondoexuq1wtf	Brain Vascular injury|Vascular Traumas, Brain|injury, Vascular, Brain|injury, Vascular Brain|trauma, cerebrovascular|Brain Vascular trauma|Vascular injury, Brain|trauma, Brain Vascular|Vascular trauma, Brain|Vascular Brain injury|Vascular Brain Injuries|Brain injury, Vascular|injury, Brain Vascular											EFO:0006791|MESH:D020214																		owl:Class
MONDO:0043510	biolink:NamedThing	brain injury	Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	mondoexuq1wtf	brain injury|brain trauma|injury of brain|brain Traumas											MESH:D001930																		owl:Class
MONDO:0012556	biolink:NamedThing	DK1-CDG	DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	mondoexuq1wtf	Dk1 deficiency|CDGIm|congenital disorder of glycosylation, type Im|CDG1M|DOLK-CDG (CDG-Im)|hypotonia and ichthyosis due to dolichol phosphate deficiency|CDG syndrome type Im|congenital disorder of glycosylation type Im|CDG Im|carbohydrate deficient glycoprotein syndrome type Im|dolichol kinase deficiency|CDG-Im|congenital disorder of glycosylation type 1m											OMIM:610768|GARD:0012393|SCTID:718712005|ICD10:E77.8|MESH:C563666|Orphanet:91131|DOID:0080565																		owl:Class
MONDO:0010150	biolink:NamedThing	head and neck squamous cell carcinoma	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.	mondoexuq1wtf	craniocervical region squamous cell carcinoma|squamous cell carcinomas of head and neck|HNSCC|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|SCCHN|squamous cell carcinoma of head and neck|head and neck squamous cell carcinoma|squamous cell carcinoma, head and neck											SCTID:716659002|Orphanet:67037|MESH:C535575|MedDRA:10060121|EFO:0000181|DOID:5520|NCIT:C34447|UMLS:C1168401|OMIM:275355|ONCOTREE:HNSC																		owl:Class
MONDO:0005096	biolink:NamedThing	squamous cell carcinoma	A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.	mondoexuq1wtf	squamous cell cancer|malignant epidermoid cell neoplasm|malignant squamous cell neoplasm|squamous cell carcinoma (morphologic abnormality)|carcinoma, squamous cell, malignant|epidermoid cell cancer|squamous carcinoma|squamous cell epithelioma|squamous cell carcinoma NOS (morphologic abnormality)|malignant epidermoid cell tumor|squamous cell carcinoma|epidermoid carcinoma|malignant squamous cell tumor											NCIT:C2929|DOID:1749|EFO:0000707|MESH:D002294|GARD:0001091|SCTID:402815007|ICDO:8070/3|UMLS:C0007137																		owl:Class
MONDO:0011814	biolink:NamedThing	Smith-McCort dysplasia 1	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.	mondoexuq1wtf	Smith-McCort dysplasia 1|DYM Smith-McCort dysplasia|SMC|Smc1|Smith-McCort dysplasia type 1|Smith-McCort dysplasia caused by mutation in DYM|SMITH-McCort dysplasia 1											OMIM:607326|UMLS:C3888088																		owl:Class
MONDO:0015799	biolink:NamedThing	Smith-McCort dysplasia	Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	mondoexuq1wtf	Smith-McCort dwarfism|Smith McCort dysplasia											ICD10:Q77.7|OMIMPS:607326|DOID:0060247|GARD:0010620|SCTID:715862006|MESH:C564589|Orphanet:178355														https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia				owl:Class
MONDO:0021080	biolink:NamedThing	blood vessel neoplasm	A neoplasm arising from arteries or veins.	mondoexuq1wtf	blood vessel neoplasm|neoplasm of blood vessel|blood vessel neoplasm (disease)|blood vessel tumor|tumor of blood vessel											NCIT:C7387|SCTID:126736007																		owl:Class
MONDO:0007214	biolink:NamedThing	brachydactyly-preaxial hallux varus syndrome	Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.	mondoexuq1wtf	Christian brachydactyly|preaxial brachydactyly with hallux varus and thumb abduction|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|brachydactyly preaxial with hallux varus and thumb abduction											ICD10:Q73.8|DOID:0110962|MESH:C537087|UMLS:C1862162|Orphanet:1278|OMIM:112450|GARD:0000972																		owl:Class
MONDO:0009005	biolink:NamedThing	complement component C1r/C1s deficiency	Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.	mondoexuq1wtf	complement component C1r/C1s deficiency|C1r/C1s deficiency											NCIT:C119991|OMIM:216950|UMLS:C3150274																		owl:Class
MONDO:0015699	biolink:NamedThing	immunodeficiency due to a classical component pathway complement deficiency		mondoexuq1wtf	immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency											ICD10:D84.1|Orphanet:169147																		owl:Class
MONDO:0013836	biolink:NamedThing	familial steroid-resistant nephrotic syndrome with sensorineural deafness		mondoexuq1wtf	coenzyme Q10 deficiency, primary, 6|COQ10D6|coenzyme Q10 deficiency, primary, type 6											OMIM:614650|Orphanet:280406|ICD10:N04.8|DOID:0070243|UMLS:C3553349																		owl:Class
MONDO:0018151	biolink:NamedThing	coenzyme Q10 deficiency	A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.	mondoexuq1wtf	CoQ10 deficiency|coenzyme Q10 deficiency disease|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary											SCTID:724575009|DOID:0050730|GARD:0010423|UMLS:CN229570|OMIMPS:607426|Orphanet:35656|NCIT:C142083|UMLS:C1843920|MESH:C564403														https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency				owl:Class
MONDO:0006104	biolink:NamedThing	benign carotid body paraganglioma	A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.	mondoexuq1wtf	chemodectoma, benign|benign chemodectoma|benign carotid body paraganglioma|carotid body paraganglioma, benign											NCIT:C79950|UMLS:C2698359|EFO:1000108																		owl:Class
MONDO:0021148	biolink:NamedThing	female reproductive system neoplasm	A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.	mondoexuq1wtf	neoplasm of the female reproductive system|tumor of female reproductive system|female reproductive system neoplasm (disease)|gynecologic neoplasm|female reproductive organ tumor|female reproductive organ neoplasm (disease)|neoplasm of female reproductive organ|neoplasm of female reproductive system|female reproductive system tumor|female reproductive system neoplasm|tumor of the female reproductive system|gynecologic tumor											EFO:1001331|UMLS:C0017416|MESH:D005833|NCIT:C3053																		owl:Class
MONDO:0000651	biolink:NamedThing	thoracic disease	A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.	mondoexuq1wtf	disease of thoracic segment of trunk|disorder of thorax|thoracic disease|thoracic segment of trunk disease or disorder|thoracic disorder|disorder of thoracic segment of trunk|thoracic segment of trunk disease|disease or disorder of thoracic segment of trunk											UMLS:C0039978|DOID:0060118|MESH:D013896|NCIT:C35742|SCTID:609622007|SCTID:118946009|UMLS:C3661979																		owl:Class
MONDO:0019158	biolink:NamedThing	tropical endomyocardial fibrosis	Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.	mondoexuq1wtf	TEMF|Davies disease											Orphanet:75565|SCTID:715626008|ICD10:I42.3|UMLS:CN205710|UMLS:C2882252																		owl:Class
MONDO:0016345	biolink:NamedThing	non-familial restrictive cardiomyopathy		mondoexuq1wtf												EFO:1001473|Orphanet:217720|UMLS:CN226908																		owl:Class
MONDO:0001342	biolink:NamedThing	dysgammaglobulinemia	An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.	mondoexuq1wtf	dysgammaglobulinemia (disease)|dysgammaglobulinemia|dysgammaglobulinemia (finding)		dysgammaglobulinemia (disease)									UMLS:C0013374|DOID:11702|HP:0002961|MESH:D004406|SCTID:123782009																		owl:Class
MONDO:0003739	biolink:NamedThing	selective immunoglobulin deficiency disease	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.	mondoexuq1wtf	selective Immunoglobulin isotype deficiency											NCIT:C27870|UMLS:C1335942|DOID:6025																		owl:Class
MONDO:0016365	biolink:NamedThing	familial primary hyperparathyroidism	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary primary hyperparathyroidism (disease)											UMLS:CN201220|GARD:0002837|Orphanet:2207|ICD10:E21.0																		owl:Class
MONDO:0016166	biolink:NamedThing	genetic hyperparathyroidism	Genetic hyperparathyroidism.	mondoexuq1wtf	genetic hyperparathyroidism											Orphanet:208596|OMIMPS:145000																		owl:Class
MONDO:0019868	biolink:NamedThing	mosaic trisomy 10	Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	mondoexuq1wtf	uniparental disomy of 10|Mosaic trisomy type 10|trisomy 10 mosaicism|mosaic trisomy 10|Mosaic trisomy chromosome 10|chromosome 10, uniparental disomy											GARD:0005406|Orphanet:96063|ICD10:Q92.1|MESH:C538292|UMLS:CN035866|SCTID:764461004																		owl:Class
MONDO:0700065	biolink:NamedThing	trisomy	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.	mondoexuq1wtf	chromosomal triplication							http://orcid.org/0000-0002-4142-7153				GARD:0006065|NCIT:C3421																		owl:Class
MONDO:0014248	biolink:NamedThing	autism spectrum disorder - epilepsy - arthrogryposis syndrome	SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).	mondoexuq1wtf	SLC35A3-CDG|AMRS|arthrogryposis, mental retardation, and seizures|arthrogryposis, intellectual disability, and seizures											OMIM:615553|Orphanet:370943|UMLS:C3809910|ICD10:Q87.8																		owl:Class
MONDO:0005118	biolink:NamedThing	human granulocytic ehrlichiosis	A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.	mondoexuq1wtf	infection by Anaplasma phagocytophilum|human ehrlichial infection, human granulocytic type|human granulocytic anaplasmosis|human granulocytic ehrlichiosis|human anaplasmosis due to Anaplasma phagocytophilum|human anaplasmosis caused by Anaplasma phagocytophilum|HGE											EFO:0000777|SCTID:85708001|GARD:0000071|ICD9:082.49|DOID:0050025																		owl:Class
MONDO:0011878	biolink:NamedThing	Worth syndrome	A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate.	mondoexuq1wtf	VBCH2|osteosclerosis of the skull and enlarged mandible|benign form of Worth hyperostosis corticalis generalisata with torus platinus|autosomal dominant endosteal hyperostosis|autosomal dominant osteosclerosis|Worth's syndrome|Van Buchem disease type 2|Van Buchem disease, type 2											GARD:0009488|SCTID:254131007|DOID:0080037|OMIM:607636																		owl:Class
MONDO:0002185	biolink:NamedThing	hyperostosis	Excessive thickening of bone.	mondoexuq1wtf	bone hypertrophy|hypertrophy of bone|hypertrophy of bone (morphologic abnormality)											MESH:D015576|SCTID:203514008|ICD10:M89.3|DOID:205|UMLS:C0020492|ICD9:733.99|ICD10:M89.30|NCIT:C34712																		owl:Class
MONDO:0009715	biolink:NamedThing	myotonia congenita, autosomal recessive	Autosomal recessive form of myotonia congenita.	mondoexuq1wtf	myotonia, generalized|Becker disease|myotonia congenita, autosomal recessive|autosomal recessive myotonia congenita											UMLS:C0751360|OMIM:255700																		owl:Class
MONDO:0029136	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal recessive 23		mondoexuq1wtf	LGMDR23|muscular dystrophy, limb-girdle, autosomal recessive 23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23											Orphanet:565837|OMIM:618138																		owl:Class
MONDO:0012559	biolink:NamedThing	primary immunodeficiency syndrome due to p14 deficiency	Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	mondoexuq1wtf	immunodeficiency due to defect in Mapbp-interacting Protein|immunodeficiency due to defect in MAPBP-interacting PROTEIN|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency											ICD10:D82.8|UMLS:C4305256|SCTID:718717004|UMLS:C1835829|Orphanet:90023|OMIM:610798|MESH:C563663																		owl:Class
MONDO:0015134	biolink:NamedThing	constitutional neutropenia	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.	mondoexuq1wtf	Kostmann syndrome|Kostmann disease|genetic infantile agranulocytosis|congenital neutropenia|infantile genetic agranulocytosis|Kostmann neutropenia											COHD:434895|Orphanet:101987|NCIT:C61242|ICD10:D70																		owl:Class
MONDO:0017118	biolink:NamedThing	syndrome with a cerebellar malformation as major feature		mondoexuq1wtf												UMLS:CN202468|Orphanet:269523																		owl:Class
MONDO:0018724	biolink:NamedThing	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		mondoexuq1wtf												Orphanet:459070|UMLS:CN242161																		owl:Class
MONDO:0022435	biolink:NamedThing	Mauriac syndrome	A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.	mondoexuq1wtf	Mauriac syndrome|Mauriac's syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome											GTR:AN0543890|UMLS:C0221005|GTR:AN0543843|NCIT:C130997|SCTID:80660001|ICD9:258.1																		owl:Class
MONDO:0011214	biolink:NamedThing	progressive familial intrahepatic cholestasis type 3	Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.	mondoexuq1wtf	progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|cholestasis, progressive familial intrahepatic, 3|Mdr3 deficiency|cholestasis, progressive familial intrahepatic, type 3|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|PFIC3|ABCB4 progressive familial intrahepatic cholestasis											OMIM:602347|UMLS:C1865643|DOID:0070223|GARD:0001289|ICD10:K76.8|Orphanet:79305|MESH:C535935														https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3				owl:Class
MONDO:0017191	biolink:NamedThing	sporadic pheochromocytoma		mondoexuq1wtf												Orphanet:276624|ICD10:D35.0|UMLS:CN202631|ICD10:C74.1																		owl:Class
MONDO:0017190	biolink:NamedThing	sporadic pheochromocytoma/secreting paraganglioma	Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.	mondoexuq1wtf												Orphanet:276621|ICD10:D35.0|GARD:0007385|ICD10:C74.1|UMLS:CN202630																		owl:Class
MONDO:0016433	biolink:NamedThing	dysmorphism-short stature-deafness-disorder of sex development syndrome	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome											UMLS:CN201392|Orphanet:2282|ICD10:Q87.8																		owl:Class
MONDO:0015404	biolink:NamedThing	rapidly involuting congenital hemangioma	Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.	mondoexuq1wtf	rich											UMLS:C1275421|Orphanet:141184|SCTID:703294004|ICD10:D18.0																		owl:Class
MONDO:0018715	biolink:NamedThing	congenital hemangioma	A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).	mondoexuq1wtf	congenital angioma|congenital hemangioma					Editor note: this is distinct from inflantile hemangioma						SCTID:32361000119104|NCIT:C3841|Orphanet:458775|UMLS:C0235753																		owl:Class
MONDO:0016010	biolink:NamedThing	vitamin K-antagonist embryofetopathy	A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.	mondoexuq1wtf	vitamin K-antagonist embryopathy|embryofetopathy due to oral anticoagulant therapy|coumarin embryopathy|vitamin K antagonist embryofetopathy|vitamin K antagonists embryofetopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonist embryopathy|fetal anticoagulant syndrome|DiSala syndrome|fetal Coumadin syndrome|warfarin embryopathy|di Sala syndrome|warfarin syndrome|fetal warfarin syndrome|coumarin syndrome|warfarin embryofetopathy|congenital warfarin syndrome											ICD10:Q86.2|UMLS:C0265374|MESH:C536683|NCIT:C98906|SCTID:38323006|MedDRA:10051445|Orphanet:1914|GARD:0008580|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome				owl:Class
MONDO:0016677	biolink:NamedThing	toxic or drug-related embryofetopathy	Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.	mondoexuq1wtf												MESH:D000014|Orphanet:251529																		owl:Class
MONDO:0007501	biolink:NamedThing	preauricular fistulae, congenital		mondoexuq1wtf	Pafc|preauricular fistulae, congenital|Ear pits											MESH:C563015|OMIM:128700																		owl:Class
MONDO:0024536	biolink:NamedThing	glucocorticoid deficiency 1	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.	mondoexuq1wtf	glucocorticoid deficiency 1|adrenal unresponsiveness to ACTH|ACTH resistance|familial glucocorticoid deficiency caused by mutation in MC2R|GCCD1|MC2R familial glucocorticoid deficiency|familial glucocorticoid deficiency 1											UMLS:C1859974|DOID:0080621|OMIM:202200																		owl:Class
MONDO:0008733	biolink:NamedThing	familial glucocorticoid deficiency	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	mondoexuq1wtf	glucocorticoid deficiency|GCCD											OMIMPS:202200|MESH:C565974|GARD:0002498|NCIT:C120446|Orphanet:361|DOID:0080620|ICD10:E27.1|SCTID:765326001|UMLS:CN204661														https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency				owl:Class
MONDO:0018107	biolink:NamedThing	idiopathic recurrent and disabling cutaneous herpes		mondoexuq1wtf												ICD10:B00.1|UMLS:CN204468|Orphanet:35061																		owl:Class
MONDO:0012555	biolink:NamedThing	Cornelia de Lange syndrome 3	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.	mondoexuq1wtf	Cornelia De Lange syndrome type 3|CDLS3|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3|Smc3 Cornelia de Lange syndrome|Cornelia de Lange syndrome 3|SMC3 Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in SMC3											OMIM:610759|UMLS:C1853099|DOID:0080507																		owl:Class
MONDO:0016033	biolink:NamedThing	Cornelia de Lange syndrome	A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.	mondoexuq1wtf	De Lange syndrome|Brachmann-de Lange syndrome|CDLS|Brachmann de Lange syndrome											DOID:11725|UMLS:CN239271|UMLS:C0270972|GARD:0010109|OMIMPS:122470|Orphanet:199|NCIT:C75016|MedDRA:10056354|ICD10:Q87.1																		owl:Class
MONDO:0018015	biolink:NamedThing	intermittent hydrarthrosis		mondoexuq1wtf												Orphanet:329967|SCTID:711286009|UMLS:C0149910|ICD10:M12.4																		owl:Class
MONDO:0005554	biolink:NamedThing	rheumatic disorder	Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.	mondoexuq1wtf	rheumatism|enthesopathies|musculoskeletal pain disorder|rheumatologic disorder|inflammatory rheumatism|collagen vascular disease|collagen disease|diseases, rheumatic|disease, rheumatic|connective tissue disease|enthesopathy|rheumatic disease					This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue						ICD9:729.0|EFO:0005755|MESH:D012216|NCIT:C27204|UMLS:C0035435|Wikipedia:Rheumatism|SCTID:396332003|DOID:1575																		owl:Class
MONDO:0009151	biolink:NamedThing	cleft lip/palate-ectodermal dysplasia syndrome	An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	mondoexuq1wtf	cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|ectodermal dysplasia, type 4|Zlotogora-Zilberman-Tenenbaum syndrome|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|ectodermal dysplasia type 4|CLEPD|Zlotogora-Ogur syndrome|syndactyly-ectodermal dysplasia-cleft/lip palate|Zlotogora syndrome|cleft lip/palate-syndactyly-pili torti syndrome|orofacial cleft 7|ED4|CLPED1|autosomal recessive ectodermal dysplasia|ectodermal dysplasia, margarita Island type|cleft lip/palate-ectodermal dysplasia syndrome|ectodermal dysplasia margarita island type|margarita type of ectodermal dysplasia|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip/palate-syndactyly-pili torti											GARD:0001045|DOID:0080400|UMLS:CN229116|Orphanet:3253|SCTID:716248001|Orphanet:320317|OMIM:225060|DOID:0060773|NCIT:C122656|GARD:0000375																		owl:Class
MONDO:0044313	biolink:NamedThing	intellectual disability, autosomal recessive 60		mondoexuq1wtf	intellectual disability, autosomal recessive 60|MRT60|mental retardation, autosomal recessive 60											OMIM:617432																		owl:Class
MONDO:0019502	biolink:NamedThing	autosomal recessive non-syndromic intellectual disability	Autosomal recessive form of non-syndromic intellectual disability.	mondoexuq1wtf	autosomal recessive mental retardation|mental retardation, autosomal recessive|autosomal recessive intellectual disability|autosomal recessive non-syndromic mental retardation|intellectual disability, autosomal recessive|NS-ARID|AR-NSID|autosomal recessive non-syndromic intellectual disability|non-syndromic intellectual disability, autosomal recessive					Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407						UMLS:CN206293|Orphanet:88616|DOID:0060308|OMIMPS:249500																		owl:Class
MONDO:0002698	biolink:NamedThing	testicular gonadoblastoma	A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.	mondoexuq1wtf	testis gonadoblastoma|testicular gonadoblastoma|testicular gonadoblastoma (disease)|gonadoblastoma of testis		testicular gonadoblastoma (disease)									HP:0000030|DOID:3579|UMLS:C1515283|NCIT:C39911																		owl:Class
MONDO:0010768	biolink:NamedThing	gonadoblastoma	A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.	mondoexuq1wtf	gonadoblastoma|gonad blastoma											DOID:3301|MESH:D018238|UMLS:C0206661|ICDO:9073/1|ONCOTREE:OGBL|ICD10:D39.1|NCIT:C3754																		owl:Class
MONDO:0011008	biolink:NamedThing	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.	mondoexuq1wtf	cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson Clemens syndrome|McPherson-Clemens syndrome											UMLS:C2931750|Orphanet:2001|ICD10:Q87.8|MESH:C538160|GARD:0003430|OMIM:601165|SCTID:719456001																		owl:Class
MONDO:0017362	biolink:NamedThing	neuralgic amyotrophy	Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.	mondoexuq1wtf	brachial plexus neuritis|acute brachial plexus neuritis|neuralgic shoulder amyotrophy|immune brachial plexus neuropathy|mononeuritis multiplex with brachial predilection											ICD10:G54.5|COHD:377271|Orphanet:2901|MedDRA:10063020																		owl:Class
MONDO:0017235	biolink:NamedThing	familial omphalocele syndrome with facial dysmorphism	Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.	mondoexuq1wtf												UMLS:CN202726|Orphanet:280403																		owl:Class
MONDO:0014554	biolink:NamedThing	infantile multisystem neurologic-endocrine-pancreatic disease		mondoexuq1wtf	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|IMNEPD											UMLS:C4015728|OMIM:616263|Orphanet:456312																		owl:Class
MONDO:0015361	biolink:NamedThing	autosomal recessive hereditary demyelinating motor and sensory neuropathy		mondoexuq1wtf	AR demyelinating HMSN											UMLS:CN228928|ICD10:G60.0|Orphanet:140459																		owl:Class
MONDO:0017105	biolink:NamedThing	glioependymal/ependymal cyst	Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).	mondoexuq1wtf												Orphanet:269197																		owl:Class
MONDO:0017104	biolink:NamedThing	central nervous system cystic malformation		mondoexuq1wtf												Orphanet:269194																		owl:Class
MONDO:0043075	biolink:NamedThing	neuroaxonal dystrophy renal tubular acidosis		mondoexuq1wtf	Maccario Mena weir syndrome|CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr											UMLS:C2931479|MESH:C537386|GARD:0000349																		owl:Class
MONDO:0001955	biolink:NamedThing	protozoal dysentery	A dysentery that involves protozoan infection.	mondoexuq1wtf												DOID:14397|ICD10:A07.8|ICD10:B50.B64|ICD9:007.8																		owl:Class
MONDO:0024270	biolink:NamedThing	parasitic intestinal disease	Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.	mondoexuq1wtf	diseases, parasitic intestinal|intestinal disease, parasitic|parasitic intestinal disease|disease, parasitic intestinal|parasitic intestinal diseases|intestine parasitic infection											UMLS:C0021832|MESH:D007411																		owl:Class
MONDO:0001784	biolink:NamedThing	malignant renovascular hypertension		mondoexuq1wtf	malignant renal artery stenosis|malignant renal hypertension											DOID:13730																		owl:Class
MONDO:0000959	biolink:NamedThing	malignant hypertensive renal disease		mondoexuq1wtf												ICD9:403.00|UMLS:C0155593|SCTID:65443008|DOID:10177|COHD:442766																		owl:Class
MONDO:0009987	biolink:NamedThing	autosomal recessive pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.	mondoexuq1wtf	retinitis pigmentosa, pericentral|retinopathy, pericentral pigmentary, autosomal recessive											OMIM:268060|DOID:0110422|ICD10:H35.5|UMLS:C1849398|MESH:C564838																		owl:Class
MONDO:0010933	biolink:NamedThing	autosomal recessive nonsyndromic deafness 4	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.	mondoexuq1wtf	neurosensory nonsyndromic recessive deafness 4|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|autosomal recessive deafness 4 with enlarged vestibular aqueduct|DFNB4|autosomal recessive nonsyndromic deafness type 4|dilated vestibular aqueduct											DOID:0110498|MESH:C566366|ICD10:H90.3|OMIM:600791																		owl:Class
MONDO:0006634	biolink:NamedThing	pituitary gland acidophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.	mondoexuq1wtf	pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma											ICDO:8280/0|DOID:5392|MESH:D000239|UMLS:C0001433|EFO:1000791|NCIT:C6780																		owl:Class
MONDO:0015445	biolink:NamedThing	autosomal dominant coarctation of aorta	Autosomal dominant form of aorta coarctation.	mondoexuq1wtf	autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant											Orphanet:1455|ICD10:Q25.1																		owl:Class
MONDO:0060707	biolink:NamedThing	Ververi-Brady syndrome		mondoexuq1wtf	VERBRAS|Ververi-Brady syndrome											Orphanet:580940|UMLS:CN244927|OMIM:617982																		owl:Class
MONDO:0005724	biolink:NamedThing	cryptococcosis	An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004	mondoexuq1wtf	torulosis|European cryptococcosis|Cryptococcus neoformans disease or disorder|Cryptococcal infection|cryptococcus neoformans infection|Cryptococcus neoformans caused disease or disorder|torula|Busse-Buschke's disease|Cryptococcus neoformans infectious disease											EFO:0007229|MedDRA:10011490|MESH:D003453|DOID:12053|NCIT:C2967|ICD10:B45.3|ICD10:B45.8|UMLS:C0010414|ICD10:B45.0|ICD10:B45.2|ICD10:B45.9|ICD10:B45|Orphanet:1546|SCTID:42386007|ICD10:B45.7|COHD:440035|ICD10:B45.1|ICD9:117.5|GARD:0006218														https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis				owl:Class
MONDO:0005135	biolink:NamedThing	parasitic infectious disease	A successful invasion of a host by an organism that uses the host for food and shelter.	mondoexuq1wtf	parasitosis|parasitic disease|parasitism|parasitic infection|infestation|diseases, parasitic|disease caused by parasite|parasitemia|parasitic infectious disease|ectoparasitic disease|disease, parasitic|parasite infestation											ICD9:134.8|ICD9:376.13|ICD9:360.13|MESH:D010272|EFO:0001067|ICD9:134.9|ICD9:136.4|DOID:1398|NCIT:C27864|ICD9:129|SCTID:17322007|ICD9:136.9|ICD10:H44.12|ICD9:136.8																		owl:Class
MONDO:0018002	biolink:NamedThing	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	mondoexuq1wtf	adult-onset CPEO with mitochondrial myopathy											SCTID:725464001|Orphanet:329336|ICD10:G71.3|UMLS:C4511138																		owl:Class
MONDO:0024283	biolink:NamedThing	Demodex folliculitis	A demodicidosis that involves the hair follicle.	mondoexuq1wtf	hair follicle demodicidosis											ICD9:133.8|SCTID:240894003|UMLS:C0392666|ICD9:704.8																		owl:Class
MONDO:0045012	biolink:NamedThing	steroid metabolism disease	A disease that has its basis in the disruption of steroid metabolic process.	mondoexuq1wtf	steroid metabolic process disease|disorder of steroid metabolic process|disorder of steroid metabolism|steroid metabolism disease											SCTID:28710006|UMLS:C0268283																		owl:Class
MONDO:0015623	biolink:NamedThing	cavitary myiasis	Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	mondoexuq1wtf												SCTID:764811001|Orphanet:165958|ICD10:B87.8																		owl:Class
MONDO:0019147	biolink:NamedThing	myiasis	The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.	mondoexuq1wtf	infestation by fly larvae|myiasis, unspecified|infestation by maggots|maggot infestation											ICD10:B87|UMLS:C0027030|DOID:11080|ICD10:B87.9|SCTID:60412004|ICD10:B87.0|EFO:0007389|MESH:D009198|ICD10:B87.4|ICD10:B87.3|MedDRA:10028586|ICD10:B87.8|ICD10:B87.1|ICD9:134.0|ICD10:B87.2|Orphanet:75110|NCIT:C128400																		owl:Class
MONDO:0024505	biolink:NamedThing	disorder by anatomical region	A broad grouping of diseases based on major body subdivisions.	mondoexuq1wtf	disorder of anatomical|disorder of organism subdivision|disease of organism subdivision|disorder by body site|disease by body site											UMLS:C1290853|SCTID:123946008																		owl:Class
MONDO:0011914	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia syndrome		mondoexuq1wtf	HLTS|hypotrichosis-lymphedema-telangiectasia syndrome											MESH:C564327|DOID:0111361|UMLS:C1843004|OMIM:607823																		owl:Class
MONDO:0007670	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.	mondoexuq1wtf	hypotrichosis lymphedema telangiectasia syndrome											GARD:0012827|Orphanet:69735																		owl:Class
MONDO:0006643	biolink:NamedThing	alcoholic cardiomyopathy	A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.	mondoexuq1wtf	alcoholic cardiomyopathy|dilated cardiomyopathy secondary to alcohol|alcohol-induced heart muscle disease											UMLS:C0007192|EFO:1000801|DOID:12935|NCIT:C53653|ICD10:I42.6|MedDRA:10001616|MESH:D002310|SCTID:83521008|ICD9:425.5																		owl:Class
MONDO:0002824	biolink:NamedThing	extrinsic cardiomyopathy	A cardiomyopathy that is not due to abnormalities in heart muscle cells.	mondoexuq1wtf	secondary cardiomyopathy											DOID:3978|ICD9:425.8|SCTID:195029002																		owl:Class
MONDO:0014787	biolink:NamedThing	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		mondoexuq1wtf	Birk-Flusser syndrome|corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|CCAFCA											UMLS:C4225193|OMIM:616819|Orphanet:466688																		owl:Class
MONDO:0002934	biolink:NamedThing	intravascular angioleiomyoma	A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.	mondoexuq1wtf	intravascular angiomyoma|intravascular angioleiomyoma											DOID:4266|UMLS:C1334267|NCIT:C5355																		owl:Class
MONDO:0006646	biolink:NamedThing	angioleiomyoma	A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.	mondoexuq1wtf	angiomyoma|angiomyoma (morphologic abnormality)|angioleiomyoma|vascular leiomyoma											MESH:D018229|EFO:1000084|UMLS:C0206653|EFO:1000806|ICDO:8894/0|NCIT:C3747|DOID:4265																		owl:Class
MONDO:0008725	biolink:NamedThing	congenital lipoid adrenal hyperplasia due to STAR deficency	Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	mondoexuq1wtf	LCAH|lipoid congenital adrenal hyperplasia|CLAH|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|adrenal hyperplasia 1|congenital adrenal hyperplasia lipoid											Orphanet:90790|ICD10:E25.0|OMIM:201710|UMLS:C0342474|GARD:0001465|SCTID:44231009																		owl:Class
MONDO:0019595	biolink:NamedThing	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect		mondoexuq1wtf	46,XY DSD due to adrenal and testicular steroidogenesis defect											UMLS:CN227657|Orphanet:90786																		owl:Class
MONDO:0011285	biolink:NamedThing	age related macular degeneration 1	An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.	mondoexuq1wtf	macular degeneration, age-related, 1|ARMD1|maculopathy, age-related, 1|age related macular degeneration type 1|age related maculopathy 1|macular Degeneration, age-related, type 1											MESH:C566411|UMLS:C1864205|OMIM:603075|DOID:0110014																		owl:Class
MONDO:0021727	biolink:NamedThing	aberrant subclavian artery	Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..	mondoexuq1wtf	congenital malposition of subclavian artery|aberrant subclavian artery|aberrant right subclavian artery|aberrant left subclavian artery|congenital malpositioned subclavian artery											UMLS:C2936828|MESH:C535555|GARD:0005706|SCTID:93353003														https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery				owl:Class
MONDO:0044067	biolink:NamedThing	candidiasis, invasive	A fungal infection by any of the Candida species in a sterile body compartment.	mondoexuq1wtf	invasive candidiasis|invasive candidiases|candidiases, invasive											MESH:D058365|EFO:1001282|NCIT:C116813																		owl:Class
MONDO:0008140	biolink:NamedThing	ossified ear cartilages		mondoexuq1wtf	ossified ear cartilages											OMIM:165670|MESH:C563488|UMLS:C1833791																		owl:Class
MONDO:0012183	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 3		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, 3|melanoma, cutaneous malignant, susceptibility to, type 3|CMM3|susceptibility to cutaneous malignant melanoma 3											OMIM:609048																		owl:Class
MONDO:0024462	biolink:NamedThing	familial cutaneous melanoma	An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary cutaneous melanoma (disease)					Editor note: consider merge with parent						OMIMPS:155600																		owl:Class
MONDO:0014755	biolink:NamedThing	skin creases, congenital symmetric circumferential, 2		mondoexuq1wtf	skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs|skin creases, congenital symmetric circumferential, 2; CSCSC2|CSCSC2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2|skin creases, congenital symmetric circumferential, 2											OMIM:616734																		owl:Class
MONDO:0002255	biolink:NamedThing	hypertrophic elongation of cervix		mondoexuq1wtf												DOID:2251|ICD10:N88.4|UMLS:C0020561|ICD9:622.6|COHD:194088|SCTID:198353000																		owl:Class
MONDO:0002256	biolink:NamedThing	cervix disease	A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.	mondoexuq1wtf	disease of uterine cervix|disorder of uterine cervix|uterine cervix disease|uterine cervix disease or disorder|cervical disorder|disease or disorder of uterine cervix											NCIT:C40241|MESH:D002577|SCTID:63339007|UMLS:C0007867|DOID:2253																		owl:Class
MONDO:0008012	biolink:NamedThing	Monophalangy of great toe		mondoexuq1wtf	Monophalangy of great toe											MESH:C563570|UMLS:C1834753|OMIM:158100																		owl:Class
MONDO:0020240	biolink:NamedThing	syndromic retinitis pigmentosa	A retinitis pigmentosa that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with retinitis pigmentosa|syndromic retinitis pigmentosa											UMLS:CN227834|Orphanet:98661																		owl:Class
MONDO:0014561	biolink:NamedThing	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.	mondoexuq1wtf	MGA7|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|3-methylglutaconic aciduria type 7|MGCA7|3-methylglutaconic aciduria caused by mutation in CLPB|3-Methylglutaconic aciduria, type 7|3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|MEGCANN					Present because it is in the OMIM series.						EFO:0009014|DOID:0110003|Orphanet:445038|OMIM:616271|UMLS:C4225393|ICD10:E71.1|SCTID:764860006																		owl:Class
MONDO:0043297	biolink:NamedThing	vibrio vulnificus infectious disease	An disease or disorder caused by infection with Vibrio vulnificus.	mondoexuq1wtf	vibrio vulnificus infection|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus infectious disease|Vibrio vulnificus disease or disorder|vibrio vulnificus infectious disease											MESH:C536348|UMLS:C1274377|GARD:0009584|SCTID:402965002																		owl:Class
MONDO:0007014	biolink:NamedThing	vibrio infectious disease	Infections with bacteria of the genus vibrio.	mondoexuq1wtf	Vibrio disease or disorder|vibrio infectious disease|Vibrio caused disease or disorder|Vibrio infectious disease											UMLS:C0042636|EFO:1001235|MESH:D014735																		owl:Class
MONDO:0044621	biolink:NamedThing	16p12.1p12.3 triplication syndrome	16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	mondoexuq1wtf	tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3											Orphanet:485405																		owl:Class
MONDO:0019991	biolink:NamedThing	immunotactoid glomerulopathy	Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.	mondoexuq1wtf	Immunotactoid glomerulonephritis|FGN|fibrillary glomerulonephritis											Orphanet:97567|SCTID:73305009|ICD10:N03.6|ICD9:583.9|GARD:0012048|NCIT:C96182														https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy				owl:Class
MONDO:0019605	biolink:NamedThing	immunotactoid or fibrillary glomerulopathy	Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.	mondoexuq1wtf	Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy											ICD10:N03.6|Orphanet:91137|GARD:0012741														https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy				owl:Class
MONDO:0018402	biolink:NamedThing	female infertility due to gonadal dysgenesis		mondoexuq1wtf	female infertility due to ovarian dysgenesis|rare female infertility due to gonadal dysgenesis|rare female infertility due to ovarian dysgenesis											Orphanet:399877|ICD10:N97.0																		owl:Class
MONDO:0008145	biolink:NamedThing	Ollier disease	Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.	mondoexuq1wtf	multiple cartilaginous enchondroses|enchondromatosis, multiple|enchondromatosis|enchondromatosis, multiple, Ollier type|Ollier's disease|Ollier disease|dyschondroplasia|Kast's syndrome|osteochondromatosis|enchondromatosis with haemangiomata|multiple enchondromatosis											OMIM:166000|NCIT:C3008|MedDRA:10014642|UMLS:CN203308|Orphanet:296|ICD10:Q78.4|GARD:0007251|UMLS:C0014084|UMLS:C0206641|SCTID:268274005|DOID:4624														https://rarediseases.info.nih.gov/diseases/7251/ollier-disease				owl:Class
MONDO:0100280	biolink:NamedThing	Waldenstrom macroglobulinemia		mondoexuq1wtf	Waldenström macroglobulinemia|Waldenstrom macroglobulinemia|lymphoplasmacytic lymphoma with IgM gammopathy|Waldenstrom's syndrome|macroglobulinemia of Waldenstrom|Waldenstrom's macroglobulinaemia|Waldenstrom's macroglobulinemia|Waldenstroem's macroglobulinemia							http://orcid.org/0000-0001-5208-3432				ONCOTREE:WM|GARD:0007872|UMLS:C0024419|MESH:D008258|OMIMPS:153600|MedDRA:10047801|Orphanet:33226|ICD10:C88.0|DOID:0060901|NCIT:C80307																		owl:Class
MONDO:0000432	biolink:NamedThing	lymphoplasmacytic lymphoma	A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.	mondoexuq1wtf	lymphoplasmacytic lymphoma|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|Immunocytoma, lymphoplasmacytic type|lymphoma, plasmacytic|lymphoplasmacytoid lymphoma|lymphoma, lymphoplasmacytic, malignant											ICD10:C88.0|ICDO:9761/3|ICD9:273.3|DOID:0050747|UMLS:C0334633|ICDO:9671/3|NCIT:C3212|ONCOTREE:LPL																		owl:Class
MONDO:0001355	biolink:NamedThing	ocular siderosis	A hemosiderosis that involves the camera-type eye.	mondoexuq1wtf	siderosis of eye|hemosiderosis of camera-type eye|camera-type eye hemosiderosis|siderosis bulbi|siderosis of globe											DOID:11754|UMLS:C0271001|SCTID:25277000|ICD10:H44.32|ICD9:360.23																		owl:Class
MONDO:0005328	biolink:NamedThing	eye disease	A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.	mondoexuq1wtf	disease of eye|eye disorder|eyeball of camera-type eye disease|disorder of globe|disorder of eye proper|disorder of eye|disorder of eyeball|disorder of eyeball of camera-type eye|eyeball of camera-type eye disease or disorder|eye disease|disease or disorder of eyeball of camera-type eye|disease of eyeball of camera-type eye|disease of eyeball											ICD9:360.89|EFO:0003966|ICD10:H44|ICD10:H44.9|ICD9:360.9|ICD9:360|ICD9:379.8|SCTID:371405004|COHD:375252|DOID:5614|ICD9:379.90|MESH:D005128|UMLS:C0015397|NCIT:C26767																		owl:Class
MONDO:0020537	biolink:NamedThing	occupational allergic alveolitis	Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise	mondoexuq1wtf												Orphanet:99909																		owl:Class
MONDO:0017853	biolink:NamedThing	hypersensitivity pneumonitis	Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.	mondoexuq1wtf	allergic interstitial pneumonitis|alveolitis, extrinsic allergic|allergic pneumonitis|extrinsic allergic alveolitis|Hp|extrinsic allergic pneumonia hypersensitivity pneumonitis|exogen allergic alveolitis|hypersensitivity pneumonitis											ICD10:J67.8|ICD10:J67.1|ICD10:J67.2|ICD10:J67.9|Orphanet:31740|ICD10:J67.6|ICD10:J67.5|ICD9:495.9|SCTID:37471005|ICD10:J67.4|ICD10:J67.0|ICD10:J67.7|GARD:0000012|ICD10:J67.3|MedDRA:10001890|ICD9:495.8																		owl:Class
MONDO:0017370	biolink:NamedThing	autoinflammatory syndrome with skin involvement		mondoexuq1wtf												UMLS:CN203043|Orphanet:290842																		owl:Class
MONDO:0009958	biolink:NamedThing	adult Refsum disease	A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.	mondoexuq1wtf	Refsum's disease|phytanic-CoA hydroxylase deficiency|doc 11 (phytanic acid type)|HSMN IV|Refsum disease with increased pipecolic acidemia|adult Refsum disease due to PHYH|Refsum disease|disorder of cornification 11 (phytanic acid type)|Refsum disease, adult, 1|hereditary motor and sensory neuropathy type 4|heredopathia atactica polyneuritiformis|RDPA|HMSN 4|HMSN type IV|phytanic acid oxidase deficiency|hereditary sensory and motor neuropathy type 4|hypertrophic neuropathy of Refsum|adult Refsum disease|classic Refsum disease|hereditary motor and sensory neuropathy 4|Refsum disease, classic					Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500						SCTID:25362006|Orphanet:773|ICD9:356.3|MESH:C535517|OMIM:600964|ICD10:G60.1|COHD:4101333|MESH:D012035|GARD:0005691|DOID:10582|MedDRA:10038275|OMIM:266500|UMLS:C1833022|GARD:0004371|ICD9:272.8														https://rarediseases.info.nih.gov/diseases/5691/refsum-disease				owl:Class
MONDO:0100258	biolink:NamedThing	phytanoyl-CoA hydroxylase deficiency	Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.	mondoexuq1wtf	PHYH related disorder of peroxisomal alpha oxidation|PHYH deficiency|phytanoyl-CoA hydroxylase deficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0013802	biolink:NamedThing	infantile cerebellar-retinal degeneration	Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.	mondoexuq1wtf	infantile cerebellar-retinal degeneration|ICRD|infantile cerebellar retinal degeneration											DOID:0050883|Orphanet:313850|ICD10:E88.8|OMIM:614559|UMLS:C3281192|GARD:0013264														https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration				owl:Class
MONDO:0014099	biolink:NamedThing	nephrotic syndrome, type 8	Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.	mondoexuq1wtf	nephrotic syndrome caused by mutation in ARHGDIA|ARHGDIA nephrotic syndrome|nephrotic syndrome, type 8|NPHS8											DOID:0080389|UMLS:C3808953|OMIM:615244																		owl:Class
MONDO:0019006	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.	mondoexuq1wtf	familial idiopathic nephrotic syndrome											UMLS:C1868672|ICD10:N04.1|ICD10:N04.8|ICD10:N04.3|UMLS:CN536255|Orphanet:656|UMLS:C4273714|SCTID:718141008																		owl:Class
MONDO:0001734	biolink:NamedThing	tuberous sclerosis	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.	mondoexuq1wtf	sclerosis, tuberous|bourneville's disease|Bourneville's disease|syndrome, Bourneville's|Bourneville's syndrome|syndrome, Bourneville|adenoma sebaceum|cerebral sclerosis|Bourneville pringle's disease|adenoma sebaceum syndrome|phakomatosis, Bourneville|ts - tuberous sclerosis|TSC|sclerosis, tuberose|Bourneville-Pringles disease|tuberous sclerosis Complex|Bourneville phakomatosis|tuberose sclerosis|Phacomatosis, Bourneville|Bourneville Phacomatosis|Bourneville pringle disease|Bourneville-pringle's disease|Bourneville disease|tuberous sclerosis syndrome|disease, Bourneville-pringle|sclerosis, cerebral|Epiloia|Bourneville syndrome|Bourneville-pringle disease|cerebral Scleroses|tuberous sclerosis|sclerosis Tuberosa|disease, Bourneville-pringle's					Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome						ICD9:759.5|NCIT:C3424|OMIMPS:191100|DOID:13515|ICD10:Q85.1|SCTID:7199000|MESH:D014402																		owl:Class
MONDO:0008655	biolink:NamedThing	vestibulocochlear dysfunction, progressive		mondoexuq1wtf	familial progressive vestibulocochlear dysfunction|vestibulocochlear dysfunction, progressive											OMIM:193005|MESH:C536346|GARD:0005489|UMLS:C2931176														https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive				owl:Class
MONDO:0002514	biolink:NamedThing	hepatobiliary neoplasm	A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.	mondoexuq1wtf	liver and biliary neoplasm|hepato-biliary tumor|hepatobiliary system neoplasm|neoplasm of hepatobiliary system|hepatobiliary tumor|hepatic, biliary, and gallbladder neoplasms|hepatobiliary system neoplasm (disease)|hepatic and biliary tumors|hepatic and biliary neoplasms|liver and biliary system neoplasm|hepatobiliary tumors|hepato-biliary neoplasm|hepatobiliary system tumor|tumor of hepatobiliary system|hepatobiliary benign neoplasm|hepatobiliary neoplasm											NCIT:C8614|EFO:0008550|DOID:3117|UMLS:C0854196																		owl:Class
MONDO:0025667	biolink:NamedThing	limbal stem cell deficiency		mondoexuq1wtf												UMLS:C1561989|Orphanet:171673																		owl:Class
MONDO:0000942	biolink:NamedThing	corneal disease	A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.	mondoexuq1wtf	cornea disease or disorder|corneal disease|disease or disorder of cornea|disorder of cornea|corneal disorder|cornea disease|disease of cornea											ICD9:371.30|UMLS:C0010034|DOID:10124|ICD9:371.9|MESH:D003316|ICD10:H18.9|SCTID:15250008|ICD9:371.89|NCIT:C26731																		owl:Class
MONDO:0003561	biolink:NamedThing	malignant giant cell tumor of soft parts	An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.	mondoexuq1wtf	malignant giant cell neoplasm of soft parts|malignant giant cell tumor of soft parts|malignant Osteoclastoma|giant cell fibrous histiocytoma|malignant giant cell tumor of soft parts (morphologic abnormality)|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|giant cell malignant fibrous histiocytoma											DOID:5638|ICDO:9251/3|UMLS:C0334554|NCIT:C8380																		owl:Class
MONDO:0002402	biolink:NamedThing	malignant giant cell tumor	A malignant neoplasm characterized by then presence of atypical giant cells.	mondoexuq1wtf	giant cell tumor, malignant|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type|malignant giant cell tumor|malignant giant cell neoplasm											NCIT:C4090|ICDO:8003/3|UMLS:C0334229|DOID:2705																		owl:Class
MONDO:0007057	biolink:NamedThing	acroosteolysis dominant type	Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.	mondoexuq1wtf	Arthrodentoosteodysplasia|Hajdu-Cheney syndrome|serpentine fibula-polycystic kidney syndrome|serpentine fibula-polycystic kidneys syndrome|acroosteolysis with osteoporosis and changes in skull and mandible|HJCYS|serpentine fibula polycystic kidney syndrome|acrodentoosteodysplasia|Cheney syndrome											MESH:C537586|OMIM:102500|GARD:0000508|ICD10:M89.5|SCTID:63122002|NCIT:C84745|ICD9:756.59|MESH:C531695|MESH:C535663|UMLS:C2930971|DOID:2736|Orphanet:955|UMLS:C0917715														https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type				owl:Class
MONDO:0010877	biolink:NamedThing	Charcot-Marie-Tooth disease type 5	Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.	mondoexuq1wtf	HMSN 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN5|hereditary motor and sensory neuropathy with pyramidal features|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease-pyramidal features syndrome|peroneal muscular atrophy with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy 5											ICD10:G60.0|GARD:0009208|SCTID:76043009|DOID:0080067|UMLS:CN074211|OMIM:600361|Orphanet:64751																		owl:Class
MONDO:0019064	biolink:NamedThing	hereditary spastic paraplegia	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.	mondoexuq1wtf	HSP|Strümpell-Lorrain disease|French settlement disease|Strumpell-Lorrain disease|FSP|hereditary spastic paraparesis|familial spastic paraplegia|SPG|spastic paraplegia|familial spastic paraparesis											Orphanet:685|COHD:192901|DOID:2476|GARD:0006637|NCIT:C140267|ICD9:334.1|OMIMPS:303350|ICD10:G11.4|MESH:D015419|MedDRA:10019903|SCTID:39912006														https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia				owl:Class
MONDO:0002971	biolink:NamedThing	amelanotic melanoma	A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.	mondoexuq1wtf	melanomas, amelanotic|amelanotic melanoma (morphologic abnormality)|amelanotic melanomas|amelanotic melanoma|melanoma, amelanotic, malignant											EFO:1001937|MESH:D018328|DOID:4359|UMLS:C0206735|NCIT:C3802|ICDO:8730/3																		owl:Class
MONDO:0005105	biolink:NamedThing	melanoma	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	mondoexuq1wtf	malignant melanoma|melanoma, malignant|Naevocarcinoma|melanoma (disease)|melanoma		melanoma (disease)									ICDO:8720/3|DOID:1909|NCIT:C3224|KEGG:05218|EFO:0000756|MESH:D008545|UMLS:CN971653|HP:0002861|UMLS:C0025202|ONCOTREE:MEL|SCTID:372244006																		owl:Class
MONDO:0019821	biolink:NamedThing	aneurysm or dilatation of ascending aorta		mondoexuq1wtf												Orphanet:95484|ICD10:Q25.4																		owl:Class
MONDO:0020293	biolink:NamedThing	ascending aorta anomaly		mondoexuq1wtf												ICD10:Q25.4|Orphanet:98725																		owl:Class
MONDO:0002039	biolink:NamedThing	cognitive disorder	A disease affects cognitive processes.	mondoexuq1wtf	organic mental disorder|cognitive disorder|cognitive disease											ICD10:F09|ICD9:294.9|SCTID:443265004|COHD:374009|NCIT:C92196|EFO:1001457|DOID:1561|MESH:D019965																		owl:Class
MONDO:0011612	biolink:NamedThing	glycine encephalopathy	Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.	mondoexuq1wtf	hyperglycinemia, transient neonatal|Glycine synthase deficiency|hyperglycinemia, Nonketotic|non-ketotic hyperglycinemia|GCE|NKA|nonketotic hyperglycinemia|hyperglycinemia nonketotic|glycine encephalopathy|GLYCINE encephalopathy											Orphanet:407|DOID:9268|SCTID:237939006|ICD9:270.7|ICD10:E72.5|GARD:0007219|NCIT:C84937|UMLS:C0751748|ICD10:E72.51|OMIM:605899														https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy				owl:Class
MONDO:0016399	biolink:NamedThing	amino acid or protein metabolism disease with epilepsy		mondoexuq1wtf												Orphanet:225689|UMLS:CN201330																		owl:Class
MONDO:0001406	biolink:NamedThing	peripheral nervous system neoplasm	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.	mondoexuq1wtf	neoplasms, peripheral nervous system|tumor of PNS|PNS tumor|tumor of peripheral nerve|neoplasm of the peripheral nervous system|tumor of the peripheral nerve|peripheral nervous system neoplasm (disease)|nerve sheath tumors|neoplasms, PNS|PNS neoplasm|peripheral nerve tumor|PNS neoplasms|nerve sheath neoplasm|tumor of peripheral nervous system|peripheral nerve neoplasm|neoplasm of the peripheral nerve|neoplasm of peripheral nerve|neoplasm of PNS|CNS-excluded nervous sys. cancer|neoplasm of peripheral nervous system|tumor of the PNS|neoplasm of the PNS|tumor of the peripheral nervous system|peripheral nervous system tumor|peripheral nervous system neoplasm											MESH:D010524|NCIT:C3321|ICD9:239.2|DOID:1192|SCTID:126980002|UMLS:C0031118|ONCOTREE:PNS																		owl:Class
MONDO:0011783	biolink:NamedThing	ALG12-CDG	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).	mondoexuq1wtf	CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|ALG12-congenital disorder of glycosylation|CDG syndrome type Ig|congenital disorder of glycosylation, type Ig|congenital disorder of glycosylation type 1g|congenital disorder of glycosylation type Ig|ALG12-CDG (CDG-Ig)|mannosyltransferase 8 deficiency|CDGIg|CDG Ig|CDG1G|CDG 1G											OMIM:607143|DOID:0080559|GARD:0009833|ICD9:271.8|ICD10:E77.8|NCIT:C126873|UMLS:C2931001|Orphanet:79324|SCTID:711155008|MESH:C535745																		owl:Class
MONDO:0022457	biolink:NamedThing	ankyloblepharon filiforme imperforate anus		mondoexuq1wtf												GARD:0000697														https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus				owl:Class
MONDO:0019180	biolink:NamedThing	hereditary hemorrhagic telangiectasia	Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.	mondoexuq1wtf	Rendu-Osler disease|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler|Rendu-Osler-Weber disease|telangiectasia, hereditary hemorrhagic|HHT|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease											UMLS:C0039445|MedDRA:10019883|GARD:0006626|NCIT:C35064|COHD:313504|ICD10:I78.0|DOID:1270|OMIMPS:187300|MESH:D013683|Orphanet:774|SCTID:21877004|ICD9:448.0																		owl:Class
MONDO:0019293	biolink:NamedThing	skin vascular disease	A disease that involves the superficial vasculature.	mondoexuq1wtf	vascular disease of the skin|disorder of blood vessels affecting skin|vasculature skin disease|vascular disorder of skin|vascular skin disease|superficial vasculature disease|vascular disorders of skin|skin vascular disorder											UMLS:C0162819|COHD:316501|MedDRA:10062171|NCIT:C35254|DOID:9540|MESH:D017445|Orphanet:79379|ICD9:709.1|SCTID:11263005																		owl:Class
MONDO:0005957	biolink:NamedThing	setariasis	Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.	mondoexuq1wtf	Setaria <nematode> disease or disorder|Setaria <nematode> infectious disease|infectious disease by Setaria|Setaria <nematode> caused disease or disorder											EFO:0007482|UMLS:C0036850|DOID:1079|MESH:D012719|SCTID:4414005																		owl:Class
MONDO:0005943	biolink:NamedThing	Rhabditida infectious disease	Infections with nematodes of the order rhabditida.	mondoexuq1wtf	infection, Rhabditida|Rhabditida infection|Rhabditida infections|infections, Rhabditida											UMLS:C0162631|MESH:D017196|EFO:0007468|GARD:0008203																		owl:Class
MONDO:0018068	biolink:NamedThing	trisomy 13	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.	mondoexuq1wtf	chromosome 13, trisomy 13 complete|trisomy type 13|Patau's syndrome|Patau syndrome|trisomy 13|complete trisomy 13 syndrome|D trisomy syndrome (formerly)|D1 trisomy											ICD10:Q91.4|NCIT:C36529|ICD10:Q91.7|ICD9:758.1|UMLS:CN204386|ICD10:Q91.5|SCTID:21111006|Orphanet:3378|DOID:11665|GARD:0007341|UMLS:C0152095|NCIT:C101223|MESH:C536305|MedDRA:10044686|ICD10:Q91.6																		owl:Class
MONDO:0016068	biolink:NamedThing	fibrochondrogenesis	Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.	mondoexuq1wtf												DOID:0060465|ICD10:Q77.7|GARD:0002321|MESH:C562524|SCTID:17144009|Orphanet:2021|OMIMPS:228520														https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis				owl:Class
MONDO:0005516	biolink:NamedThing	osteochondrodysplasia	A term referring to disorders characterized by abnormalities in the development of bones and cartilage.	mondoexuq1wtf	skeletal dysplasia|congenital skeletal dysplasia|osteochondrodysplasia|cartilage development disorder|osteochondrodysplasia syndrome|congenital anomaly of cartilage											UMLS:C0029422|SCTID:105985007|EFO:0005571|ICD10:Q78.9|MESH:D010009|ICD9:756.4|GARD:0006051|DOID:2256|NCIT:C84978																		owl:Class
MONDO:0014176	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies	A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	mondoexuq1wtf	hypotonia-speech impairment-severe cognitive delay syndrome|infantile hypotonia-psychomotor retardation-characteristic facies syndrome|IHPRF|IHPRF syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies											Orphanet:371364|OMIMPS:615419|DC:0000718|ICD10:Q87.8|UMLS:CN204877																		owl:Class
MONDO:0001270	biolink:NamedThing	stone in bladder diverticulum		mondoexuq1wtf	calculus in diverticulum of bladder											UMLS:C0156265|COHD:192965|SCTID:18109005|ICD10:N21.0|DOID:11354|ICD9:594.0																		owl:Class
MONDO:0007197	biolink:NamedThing	bladder diverticulum		mondoexuq1wtf	bladder diverticulum (disease)|diverticulum - bladder|diverticulum of bladder|bladder diverticulum		bladder diverticulum (disease)									COHD:195864|HP:0000015|MESH:C562406|ICD9:596.3|OMIM:109820|DOID:11353|ICD10:N32.3|SCTID:197866008																		owl:Class
MONDO:0004186	biolink:NamedThing	cranial nodular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	mondoexuq1wtf	cranial pseudosarcomatous fasciitis|cranial nodular fasciitis											NCIT:C27248|UMLS:C1333162|DOID:7326																		owl:Class
MONDO:0024653	biolink:NamedThing	skull neoplasm	A benign or malignant neoplasm that affects the bones and structures of the skull.	mondoexuq1wtf	skull tumor|tumor of skull|skull neoplasm|neoplasm of skull|tumor of the skull|neoplasm of the skull											NCIT:C3375|UMLS:C0037305|ICD9:239.2|SCTID:126538005																		owl:Class
MONDO:0005163	biolink:NamedThing	simian immunodeficiency virus infection	An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus.	mondoexuq1wtf	Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus infectious disease|Simian immunodeficiency virus disease or disorder											EFO:0001675																		owl:Class
MONDO:0022034	biolink:NamedThing	lentivirus infection	Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.	mondoexuq1wtf	Lentivirus Infections|Infections, Lentivirus|Infection, Lentivirus|Disease caused by Lentivirus|Lentivirus Infection|Disease due to Lentivirus											UMLS:C0079680|MESH:D016180|EFO:1001357																		owl:Class
MONDO:0014339	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 16	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.	mondoexuq1wtf	autosomal recessive spinocerebellar ataxia type 16|autosomal recessive cerebellar ataxia caused by mutation in STUB1|spinocerebellar ataxia autosomal recessive type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|spinocerebellar ataxia, autosomal recessive type 16|SCAR16											OMIM:615768|ICD10:G11.1|Orphanet:412057|DOID:0080029|UMLS:C4014261																		owl:Class
MONDO:0015586	biolink:NamedThing	benign familial mesial temporal lobe epilepsy	Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.	mondoexuq1wtf	benign FMTLE											Orphanet:163717|UMLS:CN226709																		owl:Class
MONDO:0017704	biolink:NamedThing	familial partial epilepsy	An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary partial epilepsy|epilepsy, partial, familial											ICD10:G40.1|GARD:0002173|UMLS:CN227178|Orphanet:309														https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial				owl:Class
MONDO:0001209	biolink:NamedThing	common wart	A wart caused by human papillomavirus. It can appear anywhere on the skin.	mondoexuq1wtf	viral Warts|wart|viral Warts due to papilloma virus|common wart|viral wart|verruca vulgaris											ICD10:B07|NCIT:C27087|DOID:11165|ICD9:078.10|UMLS:C0043037|ICD10:B07.8|SCTID:57019003|ICD9:078.19|ICD9:078.1|MESH:D014860																		owl:Class
MONDO:0024666	biolink:NamedThing	benign epithelial skin neoplasm	A form of epithelial skin neoplasm without malignant characteristics.	mondoexuq1wtf	benign skin epithelium tumor|benign epithelial skin neoplasm|epithelial skin neoplasm, benign|benign skin epithelium neoplasm|benign epithelial skin tumor											UMLS:C0345981|NCIT:C7341																		owl:Class
MONDO:0044878	biolink:NamedThing	adult germ cell tumor	A germ cell tumor that occurs during adulthood.	mondoexuq1wtf	germ cell tumor of adults|germ cell tumor|Adult germ cell tumor											NCIT:C114777																		owl:Class
MONDO:0007476	biolink:NamedThing	familial Dupuytren contracture	Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).	mondoexuq1wtf	plantar fibromas|Dupuytren contracture 1|plantar fibromatosis, familial|Dupuytren contracture											SCTID:274142002|OMIM:126900|ICD10:M72.0|GARD:0012165|Orphanet:79142																		owl:Class
MONDO:0016037	biolink:NamedThing	superficial Fibromatosis	A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.	mondoexuq1wtf	superficial Fibromatosis											Orphanet:199257|UMLS:C0406571|NCIT:C6814|EFO:1000556|ICD9:729.99|SCTID:238853007|ICD10:M72.8																		owl:Class
MONDO:0016446	biolink:NamedThing	acquired cutis laxa	An instance of cutis laxa that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired cutis laxa|cutis laxa acquisita											Orphanet:228285|SCTID:19726003|UMLS:C0406549																		owl:Class
MONDO:0016435	biolink:NamedThing	acquired dermis elastic tissue disorder with decreased elastic tissue		mondoexuq1wtf												Orphanet:228221|UMLS:CN226928																		owl:Class
MONDO:0008073	biolink:NamedThing	familial juvenile hyperuricemic nephropathy type 1	Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.	mondoexuq1wtf	uromodulin-associated kidney disease|nephropathy, familial, with gout|gouty nephropathy, familial juvenile|hyperuricemic nephropathy, familial juvenile|UMOD familial juvenile hyperuricemic nephropathy|FJHN type 1|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|familial juvenile gouty nephropathy|hyperuricemic nephropathy, familial juvenile 1|familial nephropathy with gout|uromodulin storage disease|familial juvenile hyperuricaemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 1|hyperuricemic nephropathy, familial juvenile, 1|UMOD-associated familial juvenile hyperuricemic nephropathy|HNFJ1|UMOD-related kidney disease|UMOD-associated FJHN											Orphanet:209886|UMLS:CN239214|OMIM:162000|GARD:0006806														https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy				owl:Class
MONDO:0013340	biolink:NamedThing	Parkinson disease 5, autosomal dominant, susceptibility to	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.	mondoexuq1wtf	susceptibility to autosomal dominant Parkinson disease 5|PARK5|young-onset Parkinson disease caused by mutation in UCHL1|Parkinson disease 5, autosomal dominant, susceptibility to|UCHL1 young-onset Parkinson disease											UMLS:C3150899|OMIM:613643																		owl:Class
MONDO:0017279	biolink:NamedThing	young-onset Parkinson disease	Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.	mondoexuq1wtf	early-onset Parkinson disease|early-onset Parkinson's disease|YOPD											SCTID:715345007|DOID:0060894|Orphanet:2828|ICD10:G20																		owl:Class
MONDO:0024981	biolink:NamedThing	rodent disease	Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).	mondoexuq1wtf	rodent disease|diseases, Rodent|disease, Rodent											UMLS:C0035801|MESH:D012376																		owl:Class
MONDO:0015509	biolink:NamedThing	genetic biliary tract disease	Genetic biliary tract disease.	mondoexuq1wtf	genetic biliary tract disease											Orphanet:156607|UMLS:CN199642																		owl:Class
MONDO:0017295	biolink:NamedThing	glycerol kinase deficiency, juvenile form	Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.	mondoexuq1wtf												ICD10:E74.8|Orphanet:284411																		owl:Class
MONDO:0018459	biolink:NamedThing	isolated glycerol kinase deficiency	Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).	mondoexuq1wtf	nonsyndromic inborn glycerol kinase deficiency|hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency					Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49						GARD:0002807|Orphanet:408|ICD10:E74.8																		owl:Class
MONDO:0008143	biolink:NamedThing	osteoarthritis susceptibility 1	Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.	mondoexuq1wtf	osteoarthritis caused by mutation in FRZB|OS1|osteoarthritis of hip, female-specific, susceptibility to|osteoarthrosis|osteoarthritis susceptibility 1|osteoarthritis susceptibility type 1|Oa|FRZB osteoarthritis											OMIM:165720|ICD9:715.90|ICD9:715.98|UMLS:C0029408|SCTID:396275006																		owl:Class
MONDO:0012337	biolink:NamedThing	glaucoma 1, open angle, I		mondoexuq1wtf	glaucoma 1, open angle, I|GLC1I											OMIM:609745|UMLS:C1857852|MESH:C565724																		owl:Class
MONDO:0018174	biolink:NamedThing	hereditary glaucoma	Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.	mondoexuq1wtf	hereditary glaucoma (disease)|glaucoma, hereditary											Orphanet:359|MESH:C580055|UMLS:CN227278|GARD:0002486														https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary				owl:Class
MONDO:0017064	biolink:NamedThing	thoracolumbosacral spina bifida aperta		mondoexuq1wtf												Orphanet:268384|UMLS:CN202423																		owl:Class
MONDO:0017062	biolink:NamedThing	spina bifida aperta		mondoexuq1wtf												ICD10:Q05.6|ICD10:Q05.9|ICD10:Q05.3|Orphanet:268369|ICD10:Q05.1|ICD10:Q05.7|ICD10:Q05.2|ICD10:Q05.8|SCTID:58557008|UMLS:CN202421|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.0																		owl:Class
MONDO:0014848	biolink:NamedThing	TELO2-related intellectual disability-neurodevelopmental disorder		mondoexuq1wtf	you-Hoover-Fong syndrome|YHFS											EFO:0009061|OMIM:616954|Orphanet:488642|UMLS:C4310778																		owl:Class
MONDO:0002369	biolink:NamedThing	cystadenoma	A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.	mondoexuq1wtf	cystadenoma (morphologic abnormality)|cystadenoma, benign|cystadenoma|cystoma											NCIT:C2972|ICDO:8440/0|DOID:2634|MESH:D003537|UMLS:C0010633																		owl:Class
MONDO:0021077	biolink:NamedThing	cystic neoplasm	A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.	mondoexuq1wtf	cystic tumor|cystic neoplasm											UMLS:C1333190|NCIT:C6784																		owl:Class
MONDO:0006079	biolink:NamedThing	ameloblastic carcinoma	A rare, cytologically malignant ameloblastoma that may metastasize.	mondoexuq1wtf	odontoma, ameloblastic, malignant|ameloblastic carcinoma											EFO:1000078|ICD10:C41.1|NCIT:C7492|UMLS:C1314678|Orphanet:314422|GARD:0011855														https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma				owl:Class
MONDO:0021192	biolink:NamedThing	odontogenic neoplasm	A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.	mondoexuq1wtf	odontogenic neoplasm|calcareous tooth tumor|tumor of calcareous tooth|neoplasm of calcareous tooth|calcareous tooth neoplasm|calcareous tooth neoplasm (disease)|odontogenic tumor											NCIT:C3286|ICDO:9270/1|MESH:D009808|UMLS:C0028880																		owl:Class
MONDO:0007921	biolink:NamedThing	yellow nail syndrome	Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.	mondoexuq1wtf	lymphedema and Yellow nails|Yns|lymphedema with yellow nails|YNS|yellow nail syndrome											OMIM:153300|EFO:1001452|ICD9:757.0|ICD9:703.8|Orphanet:662|NCIT:C85238|ICD10:L60.5|GARD:0000184|MedDRA:10048244|UMLS:C0221348|DOID:0050468|MESH:D056684|SCTID:400211001														https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome				owl:Class
MONDO:0019285	biolink:NamedThing	syndromic nail anomaly	A nail anomaly that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with nail anomaly|syndromic nail anomaly											UMLS:CN227613|Orphanet:79370																		owl:Class
MONDO:0020645	biolink:NamedThing	autosomal dominant osteopetrosis	Autosomal dominant form of osteopetrosis (disease).	mondoexuq1wtf	osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease)|OPTA											UMLS:C4272579|OMIMPS:607634																		owl:Class
MONDO:0008411	biolink:NamedThing	ulnar-mammary syndrome	Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.	mondoexuq1wtf	Schinzel syndrome|ulnar-mammary syndrome|Pallister ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|ums											Orphanet:3138|MESH:C536937|DOID:0060614|UMLS:C1866994|ICD9:759.89|GARD:0000118|ICD10:Q71.8|OMIM:181450|SCTID:700211007														https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome				owl:Class
MONDO:0015853	biolink:NamedThing	deficient breast volume or number		mondoexuq1wtf												Orphanet:180173																		owl:Class
MONDO:0006853	biolink:NamedThing	mesenchymal chondrosarcoma	A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.	mondoexuq1wtf	mesenchymal chondrosarcoma											UMLS:C0206637|NCIT:C3737|MESH:D018211|MedDRA:10027389|ICDO:9240/3|ONCOTREE:MCHS|DOID:4545|EFO:1001041																		owl:Class
MONDO:0006974	biolink:NamedThing	small cell sarcoma	A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.	mondoexuq1wtf	small cell sarcomas|small cell sarcoma											NCIT:C3746|UMLS:C0206652|EFO:1001184|ICDO:8803/3|MESH:D018228|DOID:3098																		owl:Class
MONDO:0007621	biolink:NamedThing	floating-Harbor syndrome	Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.	mondoexuq1wtf	floating-Harbor syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|FHS|Pelletier-Leisti syndrome|FLHS|floating-HARBOR syndrome											GARD:0006455|OMIM:136140|UMLS:C0729582|ICD10:Q87.8|ICD9:759.89|Orphanet:2044|DOID:0111358|SCTID:312214005|MESH:C537062														https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome				owl:Class
MONDO:0015329	biolink:NamedThing	malformation syndrome with short stature		mondoexuq1wtf	malformation syndrome associated with short stature|congenital malformation syndrome associated with short stature|congenital malformation syndrome and short stature											Orphanet:139021|UMLS:CN199359|SCTID:205808005																		owl:Class
MONDO:0010184	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblC	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.	mondoexuq1wtf	methylmalonic acidemia with homocystinuria type cblC|cblC - cobalamin locus c|methylmalonic aciduria and homocystinuria, cblC type|cobalamin c disease|methylmalonic acidemia and homocystinuria, cblC type|cobalamin C defect|methylmalonic aciduria and homocystinuria cblC|MAHCC|methylmalonic acidemia with homocystinuria, type cblC|cblC defect|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|methylmalonic aciduria with homocystinuria, type cblC|cobalamin C deficiency|cobalamin locus c variant|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|methylmalonic acidemia and homocystinuria cblC|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|cblC methylmalonic acidemia and homocystinuria|cblC|methylmalonic aciduria and homocystinuria, cblC type, digenic											NCIT:C142174|SCTID:74653006|GARD:0012128|UMLS:CN205878|DOID:0050715|Orphanet:79282|ICD10:E72.1|OMIM:277400																		owl:Class
MONDO:0020281	biolink:NamedThing	metabolic disease with pigmentary retinitis		mondoexuq1wtf												Orphanet:98713|UMLS:CN207084																		owl:Class
MONDO:0031011	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and variable seizures		mondoexuq1wtf	NEDDFAS											OMIM:619264																		owl:Class
MONDO:0013008	biolink:NamedThing	combined immunodeficiency due to STIM1 deficiency	Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.	mondoexuq1wtf	IMD10|immune dysfunction with T-cell inactivation due to calcium entry defect 2|immunodeficiency type 10|CID due to STIM1 deficiency|immunodeficiency 10|STIM1 deficiency											MESH:C557827|ICD10:D81.8|GARD:0010523|OMIM:612783|UMLS:C2748557|Orphanet:317430																		owl:Class
MONDO:0015695	biolink:NamedThing	combined immunodeficiency due to CRAC channel dysfunction	Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.	mondoexuq1wtf	immune dysfunction due to T-cell inactivation due to calcium entry defect											Orphanet:169090|SCTID:717811007|ICD10:D81.8																		owl:Class
MONDO:0001906	biolink:NamedThing	posterior dislocation of lens		mondoexuq1wtf						May be obsoleted as it represents a finding; TODO add HPO class						UMLS:C0155373|SCTID:14169000|ICD10:H27.13|ICD9:379.34|COHD:374363|DOID:14199																		owl:Class
MONDO:0001524	biolink:NamedThing	globe disease		mondoexuq1wtf						Editor note: Consider merging with parent						DOID:1242|ICD9:360.29|ICD10:H44.39																		owl:Class
MONDO:0006105	biolink:NamedThing	benign conjunctival neoplasm	Abnormal growth of the cells of the conjunctiva without malignant characteristics.	mondoexuq1wtf	benign neoplasm of the conjunctiva|benign neoplasm of conjunctiva|benign conjunctival neoplasm|conjunctiva benign neoplasm|benign tumor of the conjunctiva|benign conjunctival tumor|benign tumor of conjunctiva|benign conjunctiva neoplasm|benign conjunctiva tumor											NCIT:C3622|SCTID:92068002|UMLS:C0154025|COHD:373982|EFO:1000110																		owl:Class
MONDO:0009717	biolink:NamedThing	Schwartz-Jampel syndrome	Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.	mondoexuq1wtf	Schwartz Jampel syndrome|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|SJS|SJS1|Schwartz-Jampel syndrome|osteochondromuscular dystrophy|Schwartz-Jampel syndrome type 1|Aberfeld syndrome|Chondrodystrophic myotonia|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|Catel-Hempel type dysostosis enchondralis metaepiphysaria|Schwartz-Jampel syndrome, type 1|Schwartz Jampel Aberfeld syndrome|Schwartz-Jampel syndrome 1|Sja syndrome|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Schwartz-Jampel-Aberfeld syndrome|Catel-Hempel syndrome|burton skeletal dysplasia|Osteochondromuscular dystrophy|burton syndrome|myotonic chondrodystrophy					Editor note: consider splitting out type 1						GARD:0000250|NCIT:C35008|OMIM:255800|ICD10:Q78.8|DOID:0090005|ICD9:759.89|Orphanet:800|SCTID:29145002|UMLS:C0036391|ICD10:G71.1																		owl:Class
MONDO:0016121	biolink:NamedThing	congenital myotonia		mondoexuq1wtf												ICD10:G71.1|Orphanet:206973																		owl:Class
MONDO:0013179	biolink:NamedThing	hereditary spastic paraplegia 44	A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 44|autosomal recessive spastic paraplegia 44|hereditary spastic paraplegia type 44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|spastic paraplegia 44, autosomal recessive|SPG44|GJC2 autosomal recessive complex spastic paraplegia											MESH:C567707|SCTID:723821002|DOID:0110796|ICD10:G11.4|UMLS:C2750784|OMIM:613206|Orphanet:320401																		owl:Class
MONDO:0015089	biolink:NamedThing	autosomal recessive complex spastic paraplegia	Autosomal recessive form of complex hereditary spastic paraplegia.	mondoexuq1wtf	autosomal recessive complex HSP|autosomal recessive complicated HSP|autosomal recessive complicated spastic paraplegia|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complex SPG|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complicated SPG											UMLS:CN228909|ICD10:G11.4|Orphanet:100981																		owl:Class
MONDO:0007316	biolink:NamedThing	Chiari malformation type I	Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.	mondoexuq1wtf	Chiari malformation type I|Cm1|Chiari malformation type 1|Chiari malformation type 1 with syringomyelia|Cm1 with syringomyelia|Arnold-Chiari malformation type I|Arnold-Chiari malformation type 1											SCTID:253185002|OMIM:118420|MedDRA:10056944|Orphanet:268882|ICD10:G95.0																		owl:Class
MONDO:0010650	biolink:NamedThing	Melnick-Needles syndrome	Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.	mondoexuq1wtf	osteodysplasty of Melnick and Needles|MELNICK-NEEDLES syndrome|Melnick-Needles osteodysplasty|MNS|Melnick-Needles syndrome											UMLS:C0025237|Orphanet:2484|ICD10:Q77.8|GARD:0007011|ICD9:756.59|DOID:0111788|OMIM:309350|MedDRA:10060908|SCTID:13449007														https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome				owl:Class
MONDO:0012725	biolink:NamedThing	lipoprotein glomerulopathy		mondoexuq1wtf	LPG|lipoprotein glomerulopathy											MESH:C567089|ICD9:593.89|ICD9:272.8|ICD10:N07.8|UMLS:C2673196|OMIM:611771|Orphanet:329481|SCTID:446923008																		owl:Class
MONDO:0004973	biolink:NamedThing	adenosquamous lung carcinoma	An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.	mondoexuq1wtf	adenosquamous lung cancer|adenosquamous cell lung carcinoma|adenosquamous lung carcinoma|lung adenosquamous carcinoma											SCTID:707405009|ONCOTREE:LUAS|DOID:4829|NCIT:C9133|ICD9:162.9|UMLS:C0279557|EFO:0000233																		owl:Class
MONDO:0006074	biolink:NamedThing	adenosquamous carcinoma	A carcinoma composed of malignant glandular cells and malignant squamous cells.	mondoexuq1wtf	adenosquamous carcinoma (morphologic abnormality)|mixed adenocarcinoma and epidermoid carcinoma|adenosquamous cell carcinoma|adenosquamous carcinoma|mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and squamous cell carcinoma|carcinoma, adenosquamous, malignant											ICDO:8560/3|DOID:4830|EFO:1000073|UMLS:C0206623|NCIT:C3727|SCTID:403902008|MESH:D018196																		owl:Class
MONDO:0024620	biolink:NamedThing	meningitis caused by poliovirus		mondoexuq1wtf	polio virus meningitis|meningitis caused by human poliovirus											SCTID:721765009|UMLS:C4303134																		owl:Class
MONDO:0024618	biolink:NamedThing	poliovirus infection	An disease or disorder caused by infection with Enterovirus C.	mondoexuq1wtf	Enterovirus C disease or disorder|human poliovirus infection|infection caused by human poliovirus|Enterovirus C infectious disease|Enterovirus C caused disease or disorder					Editor note: TODO placeholder class for poliovirus in NCIT						UMLS:C4303135|SCTID:721764008																		owl:Class
MONDO:0004933	biolink:NamedThing	hypoplastic left heart syndrome	Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.	mondoexuq1wtf	HLHS					prototype_pattern						ICD10:Q23.4|SCTID:62067003|COHD:440207|Orphanet:2248|OMIMPS:241550|UMLS:C0152101|MESH:D018636|MedDRA:10021076|NCIT:C98894|GARD:0006739|ICD9:746.7|DOID:9955																		owl:Class
MONDO:0005453	biolink:NamedThing	congenital heart disease	A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.	mondoexuq1wtf	heart defect|abnormalities, heart|defect, congenital heart|heart malformation|Abnormality, heart|heart abnormality|defects, congenital heart|congenital heart defects|heart, malformation Of|heart abnormalities|congenital heart defect|congenital anomaly of heart|heart-congenital defect|heart defect, congenital											ICD10:Q24.9|COHD:312723|ICD9:746.84|MESH:D006330|EFO:0005207|ICD9:746.9|SCTID:13213009|DOID:1682|NCIT:C95834|ICD9:746.89|UMLS:CN169364																		owl:Class
MONDO:0000990	biolink:NamedThing	acute subendocardial myocardial infarction	Acute form of subendocardial myocardial infarction.	mondoexuq1wtf	subendocardial infarction acute myocardial infarction|subendocardial myocardial infarction, acute|acute subendocardial infarction|acute nontransmural infarction											ICD9:410.70|SCTID:70422006|UMLS:C0264710|ICD9:410.7|ICD9:410.72|ICD9:410.71|DOID:10266																		owl:Class
MONDO:0004781	biolink:NamedThing	acute myocardial infarction	Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.	mondoexuq1wtf	acute myocardial infarction (disease)|myocardial infarction (disease), acute											ICD9:410|ICD9:410.82|COHD:312327|ICD9:410.90|ICD9:410.92|ICD9:410.80|ICD9:410.81|UMLS:C0155626|ICD9:410.9|DOID:9408|ICD9:410.91|EFO:0008583|SCTID:57054005|NCIT:C35204|ICD10:I21.3|ICD10:I21.9																		owl:Class
MONDO:0011793	biolink:NamedThing	celiac disease, susceptibility to, 5		mondoexuq1wtf	gluten-sensitive enteropathy, susceptibility to, 5|GSES|CELIAC5|celiac disease, susceptibility to, 5											OMIM:607202																		owl:Class
MONDO:0001816	biolink:NamedThing	scleroperikeratitis		mondoexuq1wtf	scleritis with corneal involvement											UMLS:C0155355|COHD:432637|ICD9:379.05|ICD10:H15.04|SCTID:42574005|DOID:13861																		owl:Class
MONDO:0013971	biolink:NamedThing	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	mondoexuq1wtf	LTBL|combined oxidative phosphorylation defect type 12|EARS2 combined oxidative phosphorylation deficiency|COXPD12|combined oxidative phosphorylation deficiency 12|combined oxidative phosphorylation deficiency caused by mutation in EARS2|combined oxidative phosphorylation deficiency type 12|leukoencephalopathy with thalamus and brainstem involvement and high lactate											GARD:0013381|OMIM:614924|SCTID:763366000|UMLS:C3554079|Orphanet:314051|DOID:0111493																		owl:Class
MONDO:0018157	biolink:NamedThing	mitochondrial disorder due to a defect in mitochondrial protein synthesis		mondoexuq1wtf	combined oxidative phosphorylation defect|combined OXPHOS deficiency|combined OXPHOS defect|COXPD											UMLS:CN227273|Orphanet:35696|ICD10:E88.8																		owl:Class
MONDO:0002513	biolink:NamedThing	kidney benign neoplasm	A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.	mondoexuq1wtf	renal neoplasm, benign|benign tumor of kidney|benign renal neoplasm|benign renal tumor|renal and ureteral tumor|benign neoplasm of the kidney|benign tumor of the kidney|renal tumor, benign|benign kidney tumor|benign kidney neoplasm|benign neoplasm of kidney|kidney benign neoplasm											DOID:3116|NCIT:C4778|EFO:1000111|SCTID:92165001|COHD:195498|ICD9:223.0																		owl:Class
MONDO:0004180	biolink:NamedThing	benign urinary system neoplasm	A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.	mondoexuq1wtf	tumor of the urinary system|benign tumor of the urinary tract|benign urinary system neoplasm|urinary tract neoplasm|renal system benign neoplasm|tumor of urinary tract|benign urinary tract tumor|benign tumor of urinary tract|benign urinary tract neoplasm|benign neoplasm of the urinary tract|neoplasm of urinary system|benign neoplasm of urinary tract|urinary system benign neoplasm											SCTID:92468007|ICD9:223.89|ICD9:223.9|COHD:78706|DOID:731|NCIT:C4893|MESH:D014571																		owl:Class
MONDO:0030988	biolink:NamedThing	developmental delay with dysmorphic facies and dental anomalies		mondoexuq1wtf	DEFDA											OMIM:619228																		owl:Class
MONDO:0011713	biolink:NamedThing	melanoma-pancreatic cancer syndrome		mondoexuq1wtf	melanoma-pancreatic cancer syndrome|familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome											OMIM:606719																		owl:Class
MONDO:0018453	biolink:NamedThing	familial atypical multiple mole melanoma syndrome		mondoexuq1wtf	FAMM syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial atypical mole syndrome|FAMMM syndrome|familial atypical mole melanoma syndrome|FAMM-PC syndrome|familial Clark nevus syndrome|melanoma-pancreatic cancer syndrome|B-K mole syndrome|familial dysplastic nevus syndrome											ICD10:D22.9|Orphanet:404560|NCIT:C27264																		owl:Class
MONDO:0060627	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 15		mondoexuq1wtf	glycosylphosphatidylinositol biosynthesis defect 15|GPIBD15|developmental delay, epilepsy, cerebellar atrophy, and osteopenia											OMIM:617810|Orphanet:529665|UMLS:C4540520																		owl:Class
MONDO:0005630	biolink:NamedThing	actinobacillosis	A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.	mondoexuq1wtf												DOID:4974|MESH:D000187|UMLS:C0001247|EFO:0007127|SCTID:16140007																		owl:Class
MONDO:0000315	biolink:NamedThing	commensal bacterial infectious disease	A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.	mondoexuq1wtf	opportunistic bacterial infectious disease					Editor note: TODO						DOID:0050339																		owl:Class
MONDO:0010386	biolink:NamedThing	immunodeficiency 33	Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.	mondoexuq1wtf	X-linked MSMD due to IKBKG deficiency|familial X-linked 1 atypical mycobacteriosis|invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|X-linked MSMD due to NEMO deficiency|IMD33|IPD2|IKBKG invasive pneumococcal disease, recurrent isolated|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|invasive pneumococcal disease, recurrent isolated, 2|immunodeficiency type 33|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|NF-kappa B essential modulator deficiency|NEMO deficiency syndrome|immunodeficiency 33, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|atypical Mycobacteriosis, familial, X-linked 1|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|invasive pneumococcal disease, recurrent isolated, type 2											GARD:0012915|OMIM:300636|MESH:C567070|UMLS:C1970879|MESH:C564468|UMLS:C1845073|ICD10:D84.8|OMIM:300640|Orphanet:319612																		owl:Class
MONDO:0017905	biolink:NamedThing	X-linked mendelian susceptibility to mycobacterial diseases	X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.	mondoexuq1wtf	mendelian susceptibility to mycobacterial diseases, X-linked|X-linked MSMD											SCTID:719814009|UMLS:CN203967|UMLS:C4304413|Orphanet:319605|ICD10:D84.8																		owl:Class
MONDO:0014171	biolink:NamedThing	complex cortical dysplasia with other brain malformations 4	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.	mondoexuq1wtf	cortical dysplasia, Complex, with Other brain malformations type 4|complex cortical dysplasia with other brain malformations type 4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|TUBG1 complex cortical dysplasia with other brain malformations|CDCBM4|cortical dysplasia, complex, with other brain malformations 4											DOID:0090138|OMIM:615412|UMLS:C3809420																		owl:Class
MONDO:0000904	biolink:NamedThing	complex cortical dysplasia with other brain malformations		mondoexuq1wtf	CDCBM|cortical dysplasia, complex, with other brain malformations											OMIMPS:614039|DOID:0090131|UMLS:CN228165																		owl:Class
MONDO:0006039	biolink:NamedThing	infectious colitis	A viral or bacterial infectious process affecting the large intestine.	mondoexuq1wtf	infectious colitis											NCIT:C78359|EFO:1000035|SCTID:39341005|UMLS:C0277524																		owl:Class
MONDO:0005292	biolink:NamedThing	colitis	Inflammation of the colon.	mondoexuq1wtf	colon inflammation|colitis|colitis (disease)|inflammation of colon		colitis (disease)									SCTID:64226004|EFO:0003872|HP:0002583|ICD9:558.9|ICD10:K52.9|DOID:0060180|UMLS:C0009319|NCIT:C26723|MESH:D003092																		owl:Class
MONDO:0017847	biolink:NamedThing	autosomal recessive spastic ataxia	Autosomal recessive form of spastic ataxia.	mondoexuq1wtf	spastic ataxia, autosomal recessive|AR-SPAX											Orphanet:316240|ICD10:G11.8|UMLS:CN229112																		owl:Class
MONDO:0010485	biolink:NamedThing	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	mondoexuq1wtf	Maine microphthalmos|MCOPS13|microphthalmia, syndromic 13|X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|microphthalmia, syndromic type 13											Orphanet:431140|ICD10:Q87.0|UMLS:C3806742|OMIM:300915																		owl:Class
MONDO:0017075	biolink:NamedThing	upper thoracic spina bifida cystica		mondoexuq1wtf												Orphanet:268770																		owl:Class
MONDO:0019773	biolink:NamedThing	myelomeningocele	Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.	mondoexuq1wtf	meningomyelocele											EFO:1001369|ICD10:Q05.2|ICD10:Q05.8|SCTID:414667000|MESH:D008591|ICD10:Q05.7|HP:0002475|GARD:0003475|ICD10:Q05.4|DOID:0060326|ICD10:Q05|ICD10:Q05.5|ICD10:Q05.6|ICD10:Q05.9|ICD10:Q05.0|ICD10:Q05.3|Orphanet:93969|ICD10:Q05.1														https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele				owl:Class
MONDO:0018343	biolink:NamedThing	periodic paralysis with later-onset distal motor neuropathy		mondoexuq1wtf												Orphanet:397750|ICD10:G72.3																		owl:Class
MONDO:0006158	biolink:NamedThing	colorectal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the colon or rectum.	mondoexuq1wtf	diffuse large B-cell lymphoma of colorectum|colorectal diffuse large B-cell lymphoma|colorectal DLBCL|colorectum diffuse large B-cell lymphoma											EFO:1000191|UMLS:C3272827|NCIT:C96503																		owl:Class
MONDO:0019016	biolink:NamedThing	maternally-inherited progressive external ophthalmoplegia		mondoexuq1wtf	maternally-inherited CPEO|maternally-inherited chronic progressive external ophthalmoplegia											ICD10:H49.4|Orphanet:663|UMLS:CN924917																		owl:Class
MONDO:0020539	biolink:NamedThing	extragonadal non-dysgerminomatous germ cell tumor		mondoexuq1wtf												UMLS:CN207440|Orphanet:99913																		owl:Class
MONDO:0015369	biolink:NamedThing	Joubert syndrome and related disorders	Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.	mondoexuq1wtf	JSRD											Orphanet:140874|UMLS:CN199461																		owl:Class
MONDO:0020043	biolink:NamedThing	autosomal recessive congenital cerebellar ataxia		mondoexuq1wtf												Orphanet:98095																		owl:Class
MONDO:0010177	biolink:NamedThing	retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.	mondoexuq1wtf	digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|Rambaud-Gallian syndrome|Rambaud-Gallian-Touchard syndrome|vascular hyalinosis											OMIM:277175|Orphanet:3018|ICD10:E78.8|GARD:0004635|MESH:C564750																		owl:Class
MONDO:0015938	biolink:NamedThing	systemic disease	A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole.	mondoexuq1wtf	multisystem disorder|rare systemic disease|multi-system disorder|systemic disorder											UMLS:C0442893|ICD9:799.89|Orphanet:182222|NCIT:C9229|SCTID:281867008														https://github.com/monarch-initiative/mondo/issues/3596				owl:Class
MONDO:0018122	biolink:NamedThing	digital anomalies-intellectual disability-short stature syndrome		mondoexuq1wtf												ICD10:Q87.2|Orphanet:352487|UMLS:CN204494																		owl:Class
MONDO:0010094	biolink:NamedThing	spondylocarpotarsal synostosis syndrome	Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.	mondoexuq1wtf	spondylocarpotarsal syndrome|Synspondylism, congenital|spondylocarpotarsal synostosis syndrome|SCT|Synspondylism congenital|Synspondylism|scoliosis, congenital with unilateral unsegmented bar|vertebral fusion with carpal coalition|spondylocarpotarsal synostosis|congenital scoliosis with unilateral unsegmented bar|congenital synspondylism|scoliosis, congenital, with unilateral unsegmented Bar											UMLS:C1848934|SCTID:702351004|ICD10:Q76.4|Orphanet:3275|ICD9:758.89|OMIM:272460|GARD:4974|DOID:0090116|GARD:0004974|MESH:C535780														https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome				owl:Class
MONDO:0019694	biolink:NamedThing	spondylodysplastic dysplasia		mondoexuq1wtf												Orphanet:93434																		owl:Class
MONDO:0017400	biolink:NamedThing	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.	mondoexuq1wtf	hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome|MTCHRS|Mitchell-Riley syndrome|diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia											Orphanet:293864|UMLS:C2748662|OMIM:615710|ICD10:Q45.8																		owl:Class
MONDO:0015214	biolink:NamedThing	syndromic visceral malformation		mondoexuq1wtf												Orphanet:108973|UMLS:CN226631																		owl:Class
MONDO:0020863	biolink:NamedThing	laryngeal diphtheria	Infection of the larynx by Corynebacterium diphtheriae.	mondoexuq1wtf	laryngeal diphtheria|Diphtheritic laryngotracheitis|Laryngeal Diphtheria|diphtheritic laryngotracheitis|Laryngeal diphtheria											NCIT:C34546|ICD9:032.3|UMLS:C0012557|SCTID:50215002																		owl:Class
MONDO:0024355	biolink:NamedThing	respiratory tract infectious disease	Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.	mondoexuq1wtf	infections, upper respiratory|infections, respiratory|respiratory infections|infections, upper respiratory tract|infection, respiratory tract|respiratory infection, upper|respiratory tract infection|infections, respiratory tract|upper respiratory infections|upper respiratory tract infections											ICD9:519.8|SCTID:275498002|MESH:D012141																		owl:Class
MONDO:0044871	biolink:NamedThing	dystonia, focal, task-specific		mondoexuq1wtf	FTSD|task-specific focal dystonia|focal hand dystonia|musician's dystonia|dystonia, focal, task-specific|focal task-specific dystonia|musician's cramp|occupational cramp|task-specific dystonia|occupational dystonia											OMIM:611284|MESH:C566973|SCTID:230330004																		owl:Class
MONDO:0000477	biolink:NamedThing	focal dystonia	A dystonia that is localized to a specific part of the body.	mondoexuq1wtf												SCTID:445006008|UMLS:C0743332|DOID:0050836																		owl:Class
MONDO:0009365	biolink:NamedThing	hydrolethalus syndrome 1	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.	mondoexuq1wtf	HYLS1 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in HYLS1|hydrolethalus syndrome 1|hydrolethalus syndrome type 1|HLS1											OMIM:236680|MESH:C565504|UMLS:C1856016|DOID:0111355																		owl:Class
MONDO:0011399	biolink:NamedThing	alpha thalassemia	Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.	mondoexuq1wtf	Alpha thalassaemia|A-thalassemia|alpha-thalassemia											Orphanet:846|DOID:1099|OMIM:604131|GARD:0000621|COHD:4287844|MedDRA:10043390|ICD10:D56.0|ICD9:282.49|ICD9:282.43|MESH:D017085|UMLS:C0002312|NCIT:C34368|SCTID:68913001																		owl:Class
MONDO:0019747	biolink:NamedThing	hematological disorder with renal involvement		mondoexuq1wtf												Orphanet:93614|UMLS:CN227684																		owl:Class
MONDO:0021195	biolink:NamedThing	disease by cellular process disrupted		mondoexuq1wtf																														owl:Class
MONDO:0013169	biolink:NamedThing	chromosome 5p13 duplication syndrome	5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	mondoexuq1wtf	chromosome 5p13 duplication syndrome|dup(5)(p13)|5p13 microduplication syndrome|trisomy 5p13											OMIM:613174|UMLS:C2750805|Orphanet:329802|MESH:C567717|ICD10:Q92.3|DOID:0060460																		owl:Class
MONDO:0014764	biolink:NamedThing	spastic paraplegia-severe developmental delay-epilepsy syndrome	Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	mondoexuq1wtf	spastic paraplegia-psychomotor retardation-seizures syndrome|SPPRS syndrome|SPPRS|spastic paraplegia and psychomotor retardation with or without seizures											OMIM:616756|Orphanet:464282|UMLS:C4225215																		owl:Class
MONDO:0040677	biolink:NamedThing	invasive carcinoma	A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.	mondoexuq1wtf	invasive carcinoma											UMLS:C1334274|NCIT:C9480																		owl:Class
MONDO:0010495	biolink:NamedThing	trichothiodystrophy 5, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.	mondoexuq1wtf	trichothiodystrophy 5, nonphotosensitive|TTD5|RNF113A nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A											UMLS:C4225420|OMIM:300953																		owl:Class
MONDO:0018053	biolink:NamedThing	trichothiodystrophy	Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).	mondoexuq1wtf	trichothiodystrophy syndrome											OMIMPS:601675|UMLS:C1955934|GARD:0012109|MedDRA:10044628|Orphanet:33364|ICD10:L67.8|SCTID:723551003|NCIT:C4924																		owl:Class
MONDO:0011152	biolink:NamedThing	PHGDH deficiency	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form	mondoexuq1wtf	PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHGDH deficiency											Orphanet:79351|OMIM:601815|UMLS:C1866174|ICD10:E72.8|DOID:0050722|MESH:C566618																		owl:Class
MONDO:0018491	biolink:NamedThing	3-phosphoglycerate dehydrogenase deficiency		mondoexuq1wtf												ICD9:270.7|Orphanet:422519|SCTID:303098002|UMLS:C0580190																		owl:Class
MONDO:0012999	biolink:NamedThing	guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.	mondoexuq1wtf	CCDS2|guanidinoacetate N-methyltransferase activity disease|GAMT deficiency|guanidinoacetate methyltransferase deficiency|cerebral creatine deficiency syndrome type 2|creatine deficiency syndrome due to GAMT deficiency|cerebral creatine deficiency syndrome 2|disorder of guanidinoacetate N-methyltransferase activity											DOID:0050799|ICD9:277.6|SCTID:124239003|OMIM:612736|ICD10:E72.8|Orphanet:382|GARD:0002578|MESH:C537622|UMLS:C0574080														https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency				owl:Class
MONDO:0017995	biolink:NamedThing	spondylocostal dysostosis-hypospadias-intellectual disability syndrome		mondoexuq1wtf												Orphanet:329252|UMLS:CN204201																		owl:Class
MONDO:0014521	biolink:NamedThing	progressive myoclonic epilepsy type 7	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.	mondoexuq1wtf	epilepsy, progressive myoclonic type 7|progressive myoclonus epilepsy type 7|KCNC1 progressive myoclonic epilepsy|progressive myoclonic epilepsy caused by mutation in KCNC1|EPM7|PME type 7|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|meak|myoclonus epilepsy and ataxia due to potassium channel mutation											Orphanet:435438|DOID:0111447|NCIT:C142804|UMLS:C4015420|OMIM:616187|ICD10:G40.3																		owl:Class
MONDO:0021472	biolink:NamedThing	benign neoplasm of scrotum	A benign neoplasm that involves the scrotum.	mondoexuq1wtf	benign neoplasm of the scrotum|benign scrotal neoplasm|scrotum benign neoplasm|benign tumor of scrotum|benign tumor of the scrotum|benign scrotal tumor											UMLS:C0154011|SCTID:92336000|ICD9:222.4|ICD10:D29.4|NCIT:C3615																		owl:Class
MONDO:0000625	biolink:NamedThing	benign male reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.	mondoexuq1wtf	male reproductive organ benign neoplasm|benign Male reproductive system neoplasm|benign Male reproductive system tumor											DOID:0060087|NCIT:C4777|UMLS:C0947786																		owl:Class
MONDO:0005267	biolink:NamedThing	heart disease	A disease involving the heart and/or pericardium.	mondoexuq1wtf	cardiac disease|heart disease or disorder|heart/pericardial disease|heart disease|disease or disorder of heart|disorder of heart|disease of heart|heart/pericardial disease or disorder|disorder of heart/pericardium|heart/pericardial trouble|heart/pericardial disorder|heart disorder|heart trouble											ICD10:I51.9|UMLS:CN236661|COHD:321588|SCTID:56265001|UMLS:CN239852|DOID:114|EFO:0003777|NCIT:C3079|ICD9:429.9|ICD9:429.89|MESH:D006331|ICD9:V47.2|UMLS:C0018799																		owl:Class
MONDO:0015745	biolink:NamedThing	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.	mondoexuq1wtf												UMLS:CN200295|ICD10:Q04.3|Orphanet:171703																		owl:Class
MONDO:0003350	biolink:NamedThing	granular cell leiomyosarcoma	An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.	mondoexuq1wtf	granular cell leiomyosarcoma											UMLS:C1333871|NCIT:C27494|DOID:5258																		owl:Class
MONDO:0003252	biolink:NamedThing	granular cell cancer	An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.	mondoexuq1wtf	malignant granular cell neoplasm|malignant granular cell myoblastoma|granular cell tumor, malignant|malignant granular cell tumor|granular cell tumor, malignant (morphologic abnormality)|myoblastoma, malignant											ICDO:9580/3|UMLS:C0334618|SCTID:404041003|ICD9:171.9|NCIT:C4336|DOID:5042																		owl:Class
MONDO:0019134	biolink:NamedThing	central neurocytoma	Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.	mondoexuq1wtf	Neurolipocytoma|central neurocytoma (WHO grade II)|CNC											Orphanet:73256|ONCOTREE:CNC|UMLS:C0206719|NCIT:C3791|GARD:0010641|DOID:14174|EFO:1000856|ICDO:9506/1|MESH:D018306														https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma				owl:Class
MONDO:0019490	biolink:NamedThing	progressive familial heart block	Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.	mondoexuq1wtf	familial progressive cardiac conduction defect|familial Lev disease|familial Lenègre disease|familial Lev-Lenègre disease|familial Lenegre disease|hereditary bundle branch defect|PFHB|familial progressive heart block|familial Lev-Lenegre disease|familial PCCD											SCTID:93130009|SCTID:698249005|UMLS:CN206278|GARD:0010005|ICD10:I45.8|Orphanet:871|OMIMPS:113900|DC:0000374|DOID:0111073|ICD9:426.6																		owl:Class
MONDO:0015110	biolink:NamedThing	genetic cardiac rhythm disease	An instance of cardiac rhythm disease that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic cardiac rhythm disease											UMLS:CN197467|Orphanet:101934																		owl:Class
MONDO:0100284	biolink:NamedThing	X-linked intellectual disability	An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2670				owl:Class
MONDO:0006353	biolink:NamedThing	paranasal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.	mondoexuq1wtf	Schneiderian papilloma of accessory sinus|paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus|Schneiderian papilloma of the accessory sinus|accessory sinus Schneiderian papilloma											UMLS:C1335343|EFO:1000455|NCIT:C6835																		owl:Class
MONDO:0000633	biolink:NamedThing	sensory organ benign neoplasm	A benign neoplasm that involves the sense organ.	mondoexuq1wtf	sense organ benign neoplasm											DOID:0060096																		owl:Class
MONDO:0013486	biolink:NamedThing	spinocerebellar ataxia type 32	Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.	mondoexuq1wtf	spinocerebellar ataxia 32|cerebellar ataxia with azoospermia and intellectual disability|SCA32											Orphanet:276183|SCTID:719254001|UMLS:C4304844|OMIM:613909|ICD10:G11.8|UMLS:C3151343																		owl:Class
MONDO:0019896	biolink:NamedThing	Kleefstra syndrome due to 9q34 microdeletion		mondoexuq1wtf	Kleefstra syndrome due to monosomy 9q34|9qSTDS|9q subtelomeric deletion syndrome|Kleefstra syndrome due to 9q subtelomeric deletion|Kleefstra syndrome due to del(9)(q34)											ICD10:Q87.8|UMLS:CN206831|Orphanet:96147																		owl:Class
MONDO:0016908	biolink:NamedThing	partial monosomy of the long arm of chromosome 9		mondoexuq1wtf	partial deletion of chromosome 9q|partial monosomy of chromosome 9q|partial deletion of the long arm of chromosome 9|partial monosomy of the long arm of chromosome type 9											ICD10:Q93.5|Orphanet:262074																		owl:Class
MONDO:0044635	biolink:NamedThing	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome		mondoexuq1wtf	DIAPH1-related sensorineural deafness-thrombocytopenia syndrome											Orphanet:494444																		owl:Class
MONDO:0018795	biolink:NamedThing	syndromic constitutional thrombocytopenia		mondoexuq1wtf												UMLS:CN776900|Orphanet:477794																		owl:Class
MONDO:0009767	biolink:NamedThing	oculocerebral hypopigmentation syndrome, Cross type	Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.	mondoexuq1wtf	hypopigmentation oculocerebral syndrome Cross type|oculocerebral hypopigmentation syndrome|Kramer syndrome|oculocerebral syndrome with hypopigmentation|Cross syndrome											ICD9:759.89|OMIM:257800|GARD:0000105|Orphanet:2719|ICD10:E70.3|SCTID:17827007																		owl:Class
MONDO:0016836	biolink:NamedThing	16p13.11 microdeletion syndrome	16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	mondoexuq1wtf	monosomy 16p13.11|Del(16)(p13.11)											UMLS:C4304596|Orphanet:261236|SCTID:719577000|UMLS:CN202172|ICD10:Q93.5																		owl:Class
MONDO:0016894	biolink:NamedThing	partial deletion of the short arm of chromosome 16		mondoexuq1wtf	partial deletion of the short arm of chromosome type 16|partial monosomy of the short arm of chromosome 16|partial monosomy of chromosome 16p|partial deletion of chromosome 16p											Orphanet:261956|ICD10:Q93.5																		owl:Class
MONDO:0011309	biolink:NamedThing	familial gestational hyperthyroidism		mondoexuq1wtf	hyperthyroidism, familial gestational											MESH:C566384|ICD10:E05.8|UMLS:C1863959|ICD9:242.80|Orphanet:99819|SCTID:703309000|OMIM:603373|ICD9:648.10																		owl:Class
MONDO:0004096	biolink:NamedThing	spinal cord dermoid cyst	A dermoid cyst that involves the spinal cord.	mondoexuq1wtf	dermoid cyst of the spinal cord|dermoid cyst of spinal cord|spinal cord dermoid cyst|spinal cord dermoid											UMLS:C1333278|DOID:7071|NCIT:C6808																		owl:Class
MONDO:0002378	biolink:NamedThing	dermoid cyst	A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.	mondoexuq1wtf	benign cystic teratoma|teratoma, benign (morphologic abnormality)|dermoid tumour|dermoid tumor|subcutaneous cystic teratoma|dermoid choristoma|teratoma, benign|mature cystic teratoma|dermoid cyst, benign|dermoid|cystic dermoid choristoma|dermoid cyst											EFO:1000894|NCIT:C9011|DOID:2658|ICDO:9084/0|ICD10:K09.8|UMLS:C0011649|UMLS:C2700593|MESH:D003884|SCTID:441459009|UMLS:C2355625																		owl:Class
MONDO:0008948	biolink:NamedThing	cerebrotendinous xanthomatosis	Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.	mondoexuq1wtf	cerebrotendinous xanthomatosis|cerebral cholesterinosis|cholestanol storage disease|CTx|sterol 27-hydroxylase deficiency											DOID:4810|GARD:0005622|UMLS:C0238052|MESH:D019294|Orphanet:909|SCTID:63246000|OMIM:213700|ICD10:E75.5|NCIT:C84628														https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis				owl:Class
MONDO:0016405	biolink:NamedThing	sterol metabolism disorder with epilepsy		mondoexuq1wtf												UMLS:CN226918|Orphanet:225710																		owl:Class
MONDO:0003830	biolink:NamedThing	type 1 papillary adenoma of the kidney		mondoexuq1wtf	type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney											DOID:6258|UMLS:C1519706|NCIT:C39809																		owl:Class
MONDO:0013445	biolink:NamedThing	complement component 9 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.	mondoexuq1wtf	classic complement early component deficiency caused by mutation in C9|C9 deficiency|C9 classic complement early component deficiency|C9D|complement component 9 deficiency											OMIM:613825|DOID:0060303|UMLS:C3151189|ICD10:D84.1|MESH:C565165																		owl:Class
MONDO:0015700	biolink:NamedThing	immunodeficiency due to a late component of complement deficiency	A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.	mondoexuq1wtf	terminal complement pathway deficiency|deficiency of complement of terminal pathway|immunodeficiency due to C5 to C9 component complement deficiency|immunodeficiency due to a C5 to C9 component complement deficiency											Orphanet:169150|ICD10:D84.1																		owl:Class
MONDO:0005995	biolink:NamedThing	trichostrongylosis	Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.	mondoexuq1wtf	infection by Trichostrongylus species|Trichostrongylus infectious disease|Trichostrongylus disease or disorder|Trichostrongyliasis|infection by Trichostrongylus|Trichostrongylus caused disease or disorder											ICD10:B81.2|UMLS:C0040948|SCTID:33710003|EFO:0007523|MESH:D014253|DOID:1254|ICD9:127.6																		owl:Class
MONDO:0005994	biolink:NamedThing	trichostrongyloidiasis	Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.	mondoexuq1wtf	Trichostrongyloidea infectious disease|Trichostrongyloidea disease or disorder|Trichostrongyloidea caused disease or disorder											DOID:1255|UMLS:C0040947|MESH:D014252|EFO:0007522																		owl:Class
MONDO:0002483	biolink:NamedThing	breast myoepithelial tumor	A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.	mondoexuq1wtf	breast myoepithelial neoplasm|breast myoepithelial tumor											NCIT:C40389|DOID:3004|UMLS:C1511319																		owl:Class
MONDO:0002380	biolink:NamedThing	myoepithelial tumor	A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	mondoexuq1wtf	myoepithelioma|myoepithelial tumor|benign myoepithelioma|myoepithelial neoplasm|myoepithelial adenoma											DOID:2661|UMLS:C0027070|UMLS:C1947949|ICDO:8982/0|ICDO:8982/1|MESH:D009208|NCIT:C40392																		owl:Class
MONDO:0004550	biolink:NamedThing	malignant cornea melanoma	A melanoma within the cornea of the eye.	mondoexuq1wtf	malignant corneal melanoma|cornea melanoma|cornea melanoma (disease)|malignant cornea melanoma|melanoma (disease) of cornea|melanoma of the cornea|corneal melanoma|malignant melanoma of cornea|malignant melanoma of the cornea|melanoma of cornea											DOID:8400|NCIT:C4553|UMLS:C0346367																		owl:Class
MONDO:0003802	biolink:NamedThing	cornea cancer	A malignant neoplasm involving the cornea.	mondoexuq1wtf	cornea cancer|malignant cornea tumor|malignant cornea neoplasm|malignant corneal tumor|malignant tumor of cornea|malignant tumor of the cornea|malignant neoplasm of cornea|corneal tumor|cancer of cornea|malignant neoplasm of the cornea|malignant neoplasm of cornea (primary)|malignant corneal neoplasm											SCTID:363464006|NCIT:C3565|UMLS:C0153629|ICD9:190.4|DOID:6199|COHD:375490|ICD10:C69.1																		owl:Class
MONDO:0021325	biolink:NamedThing	malignant neoplasm of thoracic esophagus	A cancer that involves the thoracic part of esophagus.	mondoexuq1wtf	malignant neoplasm of the thoracic esophagus|malignant neoplasm of thoracic part of esophagus|cancer of thoracic part of esophagus|malignant thoracic part of esophagus neoplasm|thoracic part of esophagus cancer											UMLS:C0153411|ICD9:150.1|NCIT:C3532|SCTID:187723009																		owl:Class
MONDO:0007576	biolink:NamedThing	esophageal cancer	A primary or metastatic malignant neoplasm involving the esophagus.	mondoexuq1wtf	malignant tumor of the esophagus|malignant esophageal tumor|Ca middle third oesophagus|malignant esophageal neoplasm|malignant neoplasm of middle third of oesophagus|malignant tumor of proximal third of esophagus|malignant neoplasm of upper third esophagus|malignant esophagus neoplasm|Ca lower third oesophagus|cancer of esophagus|malignant tumor of distal third of esophagus|esophageal cancer|gastric cardia adenocarcinoma, susceptibility to|malignant esophagus tumor|malignant neoplasm of lower third of oesophagus|malignant tumor of the middle third of the esophagus|malignant neoplasm of the esophagus|malignant tumor of esophagus|Escc, susceptibility to|malignant neoplasm of proximal third of esophagus|malignant neoplasm of esophagus|esophageal squamous cell carcinoma, susceptibility to|malignant tumor of abdominal esophagus|Aerodigestive tract cancer, susceptibility to|esophagus cancer|malignant neoplasm of distal third of esophagus											DOID:5041|ICD9:150.9|COHD:4092060|UMLS:C0546837|ICD9:150.3|ICD9:150.4|ICD10:C15.3|ICD9:150.2|OMIM:133239|SCTID:363402007|NCIT:C7478|GARD:0006383|ICD10:C15.5|ICD9:150.5|ICD9:150.8|ICD10:C15.4																		owl:Class
MONDO:0043310	biolink:NamedThing	amaurosis fugax	Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)	mondoexuq1wtf	transient monocular blindness|blindness, monocular, transient|momentary blindness|amaurosis fugax|monocular blindness, transient|blindness, transient monocular|amaurosis fugax (one sided temporary vision loss)											GARD:0009660|SCTID:88032003|NCIT:C84550|MESH:D020757																		owl:Class
MONDO:0001941	biolink:NamedThing	blindness (disorder)	The lack of vision. It is caused by neurological or physiological factors.	mondoexuq1wtf	vision impairment|visual impairment|vision loss|blindness											ICD10:H54|MESH:D001766|NCIT:C97109|DOID:1432|SCTID:105597003|ICD9:369																		owl:Class
MONDO:0010726	biolink:NamedThing	Rett syndrome	Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.	mondoexuq1wtf	Rett syndrome, atypical|cerebroatrophic hyperammonemia|Rett syndrome|Rts|RTT|autism, dementia, ataxia, and loss of purposeful hand use|Rett's disorder|Rett syndrome, Zappella variant|Rett syndrome, preserved speech variant											SCTID:68618008|Orphanet:778|OMIM:312750|UMLS:C0035372|MESH:D015518|ICD10:F84.2|ICD9:330.8|MedDRA:10039000|NCIT:C75488|DOID:1206|GARD:0005696																		owl:Class
MONDO:0100148	biolink:NamedThing	X-linked complex neurodevelopmental disorder	A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0009736	biolink:NamedThing	Neu-Laxova syndrome 1	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.	mondoexuq1wtf	Neu-Laxova syndrome|Neu-Laxova syndrome caused by mutation in PHGDH|3-Phosphoglycerate dehydrogenase deficiency, neonatal form|Neu-Laxova syndrome type 1|Neu-Laxova syndrome 1|NLS1|PHGDH Neu-Laxova syndrome											ICD10:Q87.8|DOID:0080076|UMLS:CN032230|OMIM:256520																		owl:Class
MONDO:0000179	biolink:NamedThing	Neu-Laxova syndrome	Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	mondoexuq1wtf	NLS|nuclear localization signal|Neu Laxova syndrome											NCIT:C14089|Orphanet:2671|SCTID:77817004|MESH:C536405|DC:0000672|ICD10:Q87.8|GARD:0000102|ICD9:759.89|UMLS:C0265218|OMIMPS:256520																		owl:Class
MONDO:0020646	biolink:NamedThing	ocular adnexal lymphoma	A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.	mondoexuq1wtf	OAL|non-Hodgkin lymphoma of ocular adnexa|ocular adnexal lymphoma|ocular adnexa non-Hodgkin lymphoma											UMLS:C2981712|NCIT:C88145																		owl:Class
MONDO:0000462	biolink:NamedThing	eye adnexa disease	A disease involving the ocular adnexa.	mondoexuq1wtf	disease of ocular adnexa|ocular adnexa disease|disorder of ocular adnexa|ocular adnexa disease or disorder|disease or disorder of ocular adnexa											UMLS:C1290855|ICD10:H00.H06|SCTID:118941004|DOID:0050815																		owl:Class
MONDO:0060782	biolink:NamedThing	premalignant hematological system disease	A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.	mondoexuq1wtf	premalignant hematologic condition											UMLS:C1335471|NCIT:C27274																		owl:Class
MONDO:0021074	biolink:NamedThing	precancerous condition	A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.	mondoexuq1wtf	precancerous condition|precancerous state|premalignant condition|premalignant state					Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome						NCIT:C3341|MESH:D011230																		owl:Class
MONDO:0000872	biolink:NamedThing	B-cell childhood acute lymphoblastic leukemia	An acute B-lymphoblastic leukemia occurring in children.	mondoexuq1wtf	B-cell pediatric ALL|B-cell childhood acute lymphogenous leukemia|childhood B acute lymphoblastic leukemia|B-cell pediatric acute lymphogenous leukemia|B cell childhood ALL|B-cell childhood acute lymphoid leukemia|B-cell pediatric acute lymphoid leukemia|B-cell childhood ALL|B-cell pediatric acute lymphoblastic leukemia|B-cell pediatric acute lymphocytic leukemia|B cell pediatric acute lymphocytic leukemia|B-cell childhood acute lymphocytic leukemia|B cell pediatric acute lymphoblastic leukemia|childhood precursor B-lymphoblastic leukemia|childhood B-ALL|B acute lymphoblastic leukemia|B cell childhood acute lymphoblastic leukemia|B cell pediatric ALL|B cell childhood acute lymphocytic leukemia											EFO:1001946|UMLS:C0279584|NCIT:C9140|DOID:0080146																		owl:Class
MONDO:0100176	biolink:NamedThing	AP-4 deficiency syndrome	A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0017393	biolink:NamedThing	blepharophimosis - intellectual disability syndrome		mondoexuq1wtf	blepharophimosis mental retardation syndromes|Young Simpson syndrome|SBBYS syndrome|blepharophimosis intellectual disability syndromes|BMRS|Say Barber Biesecker Young-Simpson syndrome|blepharophimosis syndrome Ohdo type											UMLS:CN203134|GARD:0010892|Orphanet:293642																		owl:Class
MONDO:0003524	biolink:NamedThing	gastric gastrin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.	mondoexuq1wtf	gastrin-producing neuroendocrine tumor of the stomach|gastric gastrin producing tumor|gastric gastrin-producing NET|gastrin producing neuroendocrine tumor of the stomach|gastrin producing tumor of the stomach|gastric gastrinoma|gastric G-cell gastrin producing tumor|stomach gastrin-producing neuroendocrine tumor|gastrin-producing neuroendocrine tumor of stomach|gastric gastrin-producing neuroendocrine tumor											NCIT:C27444|DOID:5579|UMLS:C1333767																		owl:Class
MONDO:0003523	biolink:NamedThing	gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.	mondoexuq1wtf	malignant gastrinoma|gastrin-producing NET|G-cell gastrin producing tumor|gastrin-producing neuroendocrine tumor|G-cell tumor|gastrin cell tumour|gastrinoma|G cell tumor|gastrin secreting tumor											DOID:5577|ICDO:8153/1|NCIT:C3050|UMLS:CN206461																		owl:Class
MONDO:0008684	biolink:NamedThing	Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	mondoexuq1wtf	telomeric deletion 4p|chromosome 4p syndrome|Pitt-Rogers-Danks syndrome|4p deletion syndrome|Wittwer syndrome|WHS|4p syndrome|Wolf-Hirschhorn syndrome|Wolf syndrome|WOLF-Hirschhorn syndrome|distal deletion 4p|chromosome 4p16.3 deletion syndrome|distal monosomy 4p|chromosome 4P16.3 deletion syndrome|4p- syndrome|Pitt syndrome|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation											DOID:0050460|NCIT:C35528|UMLS:CN207113|UMLS:C0796117|OMIM:194190|MedDRA:10050361|MESH:D054877|SCTID:718226002|UMLS:C1956097|UMLS:C0796202|ICD10:Q93.3|Orphanet:280|GARD:0007896														https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome				owl:Class
MONDO:0011795	biolink:NamedThing	anonychia-microcephaly syndrome	Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.	mondoexuq1wtf	anonychia, total, with microcephaly|total anonychia congenita and microcephaly|total anonychia with microcephaly|anonychia total with microcephaly|Teebi-Kaurah syndrome											Orphanet:1094|OMIM:607214|GARD:0000709|SCTID:720494009|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly				owl:Class
MONDO:0018948	biolink:NamedThing	multiminicore myopathy	Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.	mondoexuq1wtf	multicore myopathy|multiminicore disease|multicore disease|MmD											SCTID:55133004|ICD10:G71.2|UMLS:C0270962|GARD:0009130|Orphanet:598																		owl:Class
MONDO:0016197	biolink:NamedThing	qualitative or quantitative defects of selenoprotein N1		mondoexuq1wtf												Orphanet:209193																		owl:Class
MONDO:0001086	biolink:NamedThing	partial optic atrophy		mondoexuq1wtf												UMLS:C0155295|DOID:10631|ICD9:377.15|COHD:381861|SCTID:111527005																		owl:Class
MONDO:0003608	biolink:NamedThing	optic atrophy	A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.	mondoexuq1wtf	atrophy of optic disc											SCTID:76976005|ICD10:H47.2|DOID:5723|UMLS:C1744705|NCIT:C34863|COHD:372914|UMLS:C0029124|ICD10:H47.20|MESH:D009896|ICD9:377.1|ICD9:377.10																		owl:Class
MONDO:0021166	biolink:NamedThing	inflammatory disease	A disease involving a pathogenic inflammatory response in the anatomical structure.	mondoexuq1wtf	anatomical structure inflammation|inflammatory disease|inflammatory disorder|inflammation of anatomical structure											NCIT:C93210|ICD9:799.89|SCTID:128139000|UMLS:C1290884																		owl:Class
MONDO:0009613	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia type cblA	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.	mondoexuq1wtf	vitamin B12-responsive methylmalonic aciduria type cblA|methylmalonic acidemia cblA type|cblA - cobalamin locus a|MMA Cbl A type|methylmalonic acidemia, cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|cobalamin b disease|cobalamin locus b variant|cblB - cobalamin locus b|methylmalonic aciduria, cblA type|vitamin B12-responsive methylmalonic acidemia type cblA|cobalamin a disease|methylmalonic aciduria cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|cblA methylmalonic acidemia|cobalamin locus a variant|cblB methylmalonic acidemia|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type											DOID:0060742|SCTID:73843004|GARD:0005500|SCTID:82245003|UMLS:C0342721|UMLS:C1855109|Orphanet:79310|NCIT:C142171|ICD10:E71.1|UMLS:C0342722|OMIM:251100																		owl:Class
MONDO:0017214	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).	mondoexuq1wtf	adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria											GARD:0012623|ICD10:E71.1|SCTID:69614003|Orphanet:28														https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia				owl:Class
MONDO:0043349	biolink:NamedThing	intravascular papillary endothelial hyperplasia	A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.	mondoexuq1wtf	Masson's vegetant intravascular hemangio-endothelioma|Masson pseudotumor|masson's pseudosarcoma|Masson's pseudosarcoma|Masson's tumor|Masson's pseudoangiosarcoma|Masson's vegetant hemangioma|Masson's pseudotumor|intravascular papillary endothelial hyperplasia|papillary endothelial hyperplasia|Masson lesion											NCIT:C4391|GARD:0010733|SCTID:238770007|UMLS:C0343083																		owl:Class
MONDO:0024461	biolink:NamedThing	angiomatosis	A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.	mondoexuq1wtf	angiomatoses|diffuse hemangioma|angiomatosis|multiple hemangiomas|diffuse angiomatosis					Editor note: check this						UMLS:C0002992|MESH:D000798|NCIT:C27503|SCTID:205562004																		owl:Class
MONDO:0023043	biolink:NamedThing	ectodermal dysplasia alopecia preaxial polydactyly		mondoexuq1wtf	absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance											MESH:C538016|GARD:0002040|UMLS:C2931691														https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly				owl:Class
MONDO:0007082	biolink:NamedThing	alopecia areata 1		mondoexuq1wtf	alopecia universalis|alopecia areata 1|AA1											OMIM:104000|UMLS:C1863094																		owl:Class
MONDO:0005340	biolink:NamedThing	alopecia areata	Loss of scalp and body hair involving microscopically inflammatory patchy areas.	mondoexuq1wtf	alopecia Circumscripta|alopecia circumscripta|circumscribed alopecia|alopecia areata|patchy loss of hair											EFO:0004192|ICD10:L63.9|ICD9:704.01|GARD:0005782|SCTID:68225006|COHD:141933|DOID:986|MESH:D000506|ICD10:L63|UMLS:C0002171																		owl:Class
MONDO:0008065	biolink:NamedThing	nasal groove, familial transverse		mondoexuq1wtf	nasal groove, familial transverse											UMLS:C1834370|OMIM:161500																		owl:Class
MONDO:0014538	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 5	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.	mondoexuq1wtf	COL25A1 congenital fibrosis of extraocular muscles|CFEOM5|fibrosis of extraocular muscles, congenital, 5|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|fibrosis of extraocular muscles, congenital, type 5											UMLS:C4015552|OMIM:616219																		owl:Class
MONDO:0007614	biolink:NamedThing	congenital fibrosis of extraocular muscles		mondoexuq1wtf	fibrosis of extraocular muscles, congenital|fibrosis of extraocular muscles, congenital, 1|CFEOM1|FEOM|Feom1 locus|Tukel syndrome|congenital fibrosis of the extraocular muscles|blepharoptosis with absent eye movements|ophthalmoplegia, congenital|fibrosis of extraocular muscles, congenital, 3B|fibrosis of extraocular muscles, congenital, type 1											Orphanet:45358|UMLS:CN043677|DOID:0080143|GARD:0012590|UMLS:C1302995|SCTID:400946004|OMIMPS:135700|ICD10:H49.8|ICD9:728.2																		owl:Class
MONDO:0008702	biolink:NamedThing	achondrogenesis type II	Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.	mondoexuq1wtf	hypochondrogenesis|achondrogenesis, Langer-Saldino type|chondrogenesis imperfecta|achondrogenesis, type IB|achondrogenesis, type IB, formerly|ACG2|achondrogenesis, type II|achondrogenesis, type 2|achondrogenesis type 2											ICD10:Q77.0|MESH:C536017|DOID:0080056|OMIM:200610|Orphanet:93296|GARD:0008713																		owl:Class
MONDO:0006874	biolink:NamedThing	obstructive jaundice	A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.	mondoexuq1wtf	cholestatic jaundice syndrome|obstructive hyperbilirubinemia|cholestatic jaundice											EFO:1001068|MESH:D041781|MedDRA:10029982|DOID:13603|SCTID:44018007|UMLS:C0022354																		owl:Class
MONDO:0001751	biolink:NamedThing	cholestasis	Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.	mondoexuq1wtf	bile occlusion|obstruction of bile duct											ICD10:K83.1|SCTID:30144000|UMLS:C0008370|COHD:201066|ICD9:576.2|MESH:D002779|DOID:13580																		owl:Class
MONDO:0006665	biolink:NamedThing	chronic atrophic gastritis	Atrophic gastritis that is persistent and long-standing.	mondoexuq1wtf	gastric atrophy|atrophic gastritis|atrophic Gastritides|Gastritides, atrophic											ICD9:535.11|MedDRA:10003685|ICD9:535.10|DOID:8929|EFO:1000826|NCIT:C7405|ICD9:535.1|COHD:192667|SCTID:84568007|MESH:D005757|ICD10:K29.4																		owl:Class
MONDO:0005001	biolink:NamedThing	chronic gastritis	Inflammation of the stomach that is chronic in nature.	mondoexuq1wtf	gastritis (disease), chronic|chronic gastritis (disease)|chronic gastritis		chronic gastritis (disease)									ICD9:535.40|ICD9:535.41|NCIT:C26929|EFO:0000337|ICD9:535.4|SCTID:8493009|HP:0005231|UMLS:C0085695																		owl:Class
MONDO:0003419	biolink:NamedThing	Bartholin gland adenoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.	mondoexuq1wtf	major vestibular gland adenoma|Bartholin gland adenoma|Bartholin's gland adenoma											NCIT:C40299|UMLS:C1511048|DOID:5382																		owl:Class
MONDO:0016574	biolink:NamedThing	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.	mondoexuq1wtf	macules hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome|hereditary congenital hypopigmented and hyperpigmented macules|congenital hypomelanotic and hypermelanotic macules|macules, hereditary congenital hypopigmented and hyperpigmented|Westerhof Beemer Cormane syndrome											GARD:0003347|MESH:C537836|SCTID:733469003|UMLS:C1835172|Orphanet:2435														https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented				owl:Class
MONDO:0014460	biolink:NamedThing	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	mondoexuq1wtf	short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ECTDS|ectodermal dysplasia/short stature syndrome|ectodermal dysplasia-short stature syndrome											UMLS:C4014987|Orphanet:423454|OMIM:616029|ICD10:Q82.8																		owl:Class
MONDO:0017672	biolink:NamedThing	focal palmoplantar keratoderma		mondoexuq1wtf	focal keratosis palmoplantaris|focal PPK|focal palmoplantar hyperkeratosis											Orphanet:307837|ICD10:Q82.8																		owl:Class
MONDO:0011045	biolink:NamedThing	MMEP syndrome	A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	mondoexuq1wtf	Viljoen-Smart syndrome|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|syndromic microphthalmia type 8|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|microphthalmia, syndromic 8|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|Viljoen Smart syndrome|MMEP|MCOPS8|microphthalmia syndromic 8											ICD10:Q87.8|MESH:C537686|SCTID:715533002|OMIM:601349|UMLS:C1832440|Orphanet:3434|GARD:0003693|UMLS:C4275099																		owl:Class
MONDO:0017275	biolink:NamedThing	spastic paraplegia-facial-cutaneous lesions syndrome	Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	spastic paraplegia facial cutaneous lesions|Bahemuka Brown syndrome|Bahemuka-Brown syndrome											UMLS:C2931617|GARD:0000806|MESH:C537797|SCTID:763403007|Orphanet:2819																		owl:Class
MONDO:0015087	biolink:NamedThing	autosomal dominant complex spastic paraplegia	Autosomal dominant form of complex hereditary spastic paraplegia.	mondoexuq1wtf	autosomal dominant complicated SPG|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complex HSP|autosomal dominant complex SPG|autosomal dominant complicated spastic paraplegia|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complicated HSP											UMLS:CN226593|ICD10:G11.4|Orphanet:100979																		owl:Class
MONDO:0005157	biolink:NamedThing	lymphoid neoplasm	A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.	mondoexuq1wtf	lymphocytic tumor|lymphocytic and plasma cell neoplasm|lymphocytic and plasma cell tumor|lymphoid tumor|lymphoid and plasmacytic tumor|lymphocytic and plasma cell tumour|lymphoid and plasma cell tumour|lymphocytic and plasmacytic neoplasm|lymphoid and plasma cell tumor|lymphoid and plasmacytic tumour|lymphoid and plasmacytic neoplasm|lymphoid neoplasm|lymphocytic neoplasm											NCIT:C7065|UMLS:C0598798|EFO:0001642|ONCOTREE:LYMPH|ICD9:200.7																		owl:Class
MONDO:0009792	biolink:NamedThing	ichthyosis-oral and digital anomalies syndrome	Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.	mondoexuq1wtf	ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis|unusual facies, digital abnormalities, and ichthyosis|Clayton Smith-Donnai syndrome											MESH:C536272|OMIM:258840|Orphanet:2272|UMLS:C1850268|GARD:0002960																		owl:Class
MONDO:0017274	biolink:NamedThing	autosomal ichthyosis syndrome with other associated signs		mondoexuq1wtf												Orphanet:281244|UMLS:CN202795														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0021636	biolink:NamedThing	astrocytic tumor	A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.	mondoexuq1wtf	astrocytic tumor|astrocytoma|astrocytoma of cerebrum|astrocytoma of brain|astrocytic neoplasm|astroglioma|Astroglioma|astrocytoma, no ICD-O subtype					This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23						DOID:3069|Orphanet:94|EFO:0000272|NCIT:C6958|MedDRA:10003571																		owl:Class
MONDO:0021042	biolink:NamedThing	glioma	A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.	mondoexuq1wtf	glial tumor|glioma|neuroglial neoplasm|neoplasm of neuroglia|glial neoplasm|tumor of the neuroglia|tumor of neuroglia|neuroglial tumor|neoplasm of the neuroglia											NCIT:C3059|UMLS:C0017638|GARD:0006513|Orphanet:182067|MESH:D005910|SCTID:393564001																		owl:Class
MONDO:0011382	biolink:NamedThing	sickle cell anemia	Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.	mondoexuq1wtf	sickle cell disease|sickle-cell/Hb-C disease without crisis|sickling disorder due to Hemoglobin S|Hemoglobin S disease|sickle cell anemia|Hb-SS disease without crisis|HbS disease|drepanocytosis|Hemoglobin S disease without crisis|hemoglobin SC disease|Hb-S/Hb-C disease|Hb SC disease											ICD9:282.60|OMIM:603903|NCIT:C34383|ICD10:D57.2|MESH:D000755|DOID:10923|ICD10:D57.20|UMLS:C0002895|ICD10:D57.0|Orphanet:232|ICD9:282.63|ICD10:D57|ICD10:D57.1|ICD9:282.6|GARD:0008614|EFO:1001797|MedDRA:10040641																		owl:Class
MONDO:0018384	biolink:NamedThing	avascular necrosis of genetic origin	An instance of avascular necrosis that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic avascular necrosis											ICD10:M93.9|Orphanet:399388																		owl:Class
MONDO:0002595	biolink:NamedThing	vaccinia	The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.	mondoexuq1wtf												UMLS:C0042214|ICD9:999.0|DOID:3298|MESH:D014615|SCTID:111852003																		owl:Class
MONDO:0014973	biolink:NamedThing	sudden cardiac failure, infantile		mondoexuq1wtf	sudden Cardiac failure, infantile|SCFI|sudden cardiac failure, infantile; SCFI											UMLS:C4310664|OMIM:617222																		owl:Class
MONDO:0018698	biolink:NamedThing	hereditary neuroendocrine tumor of small intestine	An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary neuroendocrine tumor of small bowel|hereditary neuroendocrine tumor of the small intestine|hereditary small intestine neuroendocrine neoplasm											UMLS:CN847586|Orphanet:456333|UMLS:CN237770																		owl:Class
MONDO:0018510	biolink:NamedThing	small intestine neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	neuroendocrine tumor of the small intestine|small intestinal neuroendocrine neoplasm|small intestine NET|small intestine neuroendocrine tumor|neuroendocrine neoplasm of small intestine|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the small intestine|NET of the small intestine|small intestine neuroendocrine neoplasm|neuroendocrine tumor of small bowel											UMLS:C1336005|DOID:4434|NCIT:C5803|UMLS:CN237515|Orphanet:423975																		owl:Class
MONDO:0003551	biolink:NamedThing	thymic adenosquamous carcinoma	A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.	mondoexuq1wtf	thymus adenosquamous carcinoma|thymic adenosquamous carcinoma|adenosquamous carcinoma of the Thymus|adenosquamous carcinoma of Thymus|Thymus adenosquamous carcinoma											NCIT:C6458|DOID:5626|UMLS:C1332171																		owl:Class
MONDO:0003493	biolink:NamedThing	thymus squamous cell carcinoma	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	mondoexuq1wtf	squamous cell carcinoma of the Thymus|epidermoid thymic carcinoma|thymic squamous cell carcinoma|thymus squamous cell carcinoma|squamous cell carcinoma of Thymus|Thymus squamous cell carcinoma											NCIT:C6455|EFO:1000579|UMLS:C1336082|DOID:5530																		owl:Class
MONDO:0006664	biolink:NamedThing	atrial septal defect	Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.	mondoexuq1wtf	auricular septal defect|interauricular septal defect|atrioseptal defect|interatrial communication|atrial septum defect|congenital atrial septal defect|interauricular communication|ASD|atrial septal defect|interatrial septal defect											MedDRA:10019308|EFO:1000825|MESH:D006344|MedDRA:10068864|ICD10:Q21.1|SCTID:253366007|COHD:4289309|UMLS:C0018817|DOID:1882|OMIMPS:108800|MedDRA:10003664|Orphanet:1478|NCIT:C84473																		owl:Class
MONDO:0002078	biolink:NamedThing	heart septal defect	A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.	mondoexuq1wtf	holes in the heart|congenital septal defect|Cardiac septal defects|congenital septal defect of heart|septal defect											ICD9:745.9|SCTID:253273004|COHD:318549|DOID:1681|NCIT:C84482|ICD9:745.8|ICD10:Q21|UMLS:C0018816|MESH:D006343|ICD10:Q21.9																		owl:Class
MONDO:0012473	biolink:NamedThing	right pulmonary artery, anomalous origin of, familial		mondoexuq1wtf	familial ARPA|right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus|anomalous origin of right pulmonary artery familial|right pulmonary artery, anomalous origin of, familial|ARPA familial|familial anomalous origin of right pulmonary artery|Arpa, familial											MESH:C535681|GARD:0010146|UMLS:C1835910|OMIM:610338														https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial				owl:Class
MONDO:0060629	biolink:NamedThing	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		mondoexuq1wtf	NDHMSR|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive											UMLS:CN737161|OMIM:617820																		owl:Class
MONDO:0004032	biolink:NamedThing	ovarian seromucinous carcinoma	A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.	mondoexuq1wtf	ovarian Seromucinous carcinoma|malignant ovarian mixed epithelial neoplasm|ovarian mixed epithelial carcinoma|mixed epithelial carcinoma of the ovary|mixed epithelial carcinoma of ovary|malignant ovarian mixed epithelial tumor											NCIT:C40090|ONCOTREE:OSMCA|DOID:6899|UMLS:C1518232|EFO:1000358																		owl:Class
MONDO:0018659	biolink:NamedThing	partial duplication of the short arm of chromosome 19		mondoexuq1wtf	partial duplication of the short arm of chromosome type 19|partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19|partial duplication of chromosome 19p											Orphanet:447985																		owl:Class
MONDO:0016937	biolink:NamedThing	partial duplication of chromosome 19		mondoexuq1wtf	partial trisomy of chromosome 19|partial duplication of chromosome type 19											Orphanet:262687|SCTID:726358004																		owl:Class
MONDO:0008280	biolink:NamedThing	Peutz-Jeghers syndrome	Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.	mondoexuq1wtf	Peutz-Jeghers syndrome|Jeghers-Peutz syndrome|colonic hamartomatous polyp|polyposis, hamartomatous intestinal|Peutz's syndrome|PJS|Peutz-Jeghers small bowel hamartoma|hamartomatous intestinal polyposis|polyps and spots syndrome|Peutz Jeghers polyposis|periorificial lentiginosis syndrome|Peutz-Jeghers polyp of small intestine|Peutz Jeghers colon polyp|polyps-and-Spots syndrome|lentiginosis, perioral|gastric Peutz-Jeghers polyp											NCIT:C3324|MESH:D010580|Orphanet:2869|ICD9:759.6|OMIM:175200|SCTID:54411001|DOID:3852|GARD:0007378|ICD10:Q85.8|UMLS:C1333088|MedDRA:10034764|UMLS:C0031269														https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome				owl:Class
MONDO:0012501	biolink:NamedThing	mutagen sensitivity		mondoexuq1wtf	mutagen sensitivity					Editor note: TODO obsolete this?						GARD:0008273|OMIM:610452														https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity				owl:Class
MONDO:0001161	biolink:NamedThing	schizoid personality disorder	A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.	mondoexuq1wtf												COHD:440085|MESH:D012557|ICD10:F60.1|NCIT:C92631|ICD9:301.2|ICD9:301.20|DOID:10936|SCTID:52954000																		owl:Class
MONDO:0002028	biolink:NamedThing	personality disorder	A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.	mondoexuq1wtf	personality disorder (disease)|character disorder|personality disorder		personality disorder (disease)									NCIT:C34922|ICD9:301.9|HP:0012075|ICD9:301.89|COHD:441838|ICD9:301.8|SCTID:33449004|DOID:1510																		owl:Class
MONDO:0014268	biolink:NamedThing	combined immunodeficiency due to OX40 deficiency	Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	mondoexuq1wtf	immunodeficiency type 16|IMD16|OX40 deficiency|immunodeficiency 16|combined immunodeficiency with impaired immunity to human herpes virus 8|combined immunodeficiency with impaired immunity to HHV-8|combined immunodeficiency with childhood-onset Kaposi sarcoma											UMLS:C3810053|OMIM:615593|ICD10:D81.8|Orphanet:431149|SCTID:766879006																		owl:Class
MONDO:0018814	biolink:NamedThing	non-severe combined immunodeficiency		mondoexuq1wtf	non-SCID											Orphanet:480549																		owl:Class
MONDO:0005854	biolink:NamedThing	mixed connective tissue disease	Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.	mondoexuq1wtf	mixed collagen vascular disease|MCTD|connective tissue disease overlap syndrome|sharp syndrome											MESH:D008947|ICD10:M35.1|Orphanet:809|EFO:0007374|GARD:0007051|MedDRA:10027754|DOID:3492|SCTID:398049005|NCIT:C84892|UMLS:C0026272														https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease				owl:Class
MONDO:0000774	biolink:NamedThing	autoimmune neuropathy	An autoimmune form of peripheral neuropathy.	mondoexuq1wtf	autoimmune peripheral neuropathy					Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20						DOID:0040087|DOID:0060499																		owl:Class
MONDO:0005976	biolink:NamedThing	syphilis	A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.	mondoexuq1wtf	Treponema pallidum disease or disorder|Treponema pallidum infectious disease|Treponema pallidum caused disease or disorder|syphilitic chancre											SCTID:76272004|MESH:D013587|ICD9:097.9|NCIT:C35055|EFO:0007504|MedDRA:10062120|ICD10:A51.0|COHD:436033|DOID:4166																		owl:Class
MONDO:0020754	biolink:NamedThing	visceral myopathy		mondoexuq1wtf	VSCM|infantile visceral myopathy|megaduodenum and/or megacystis|visceral myopathy|pseudoobstruction, idiopathic intestinal											OMIM:155310																		owl:Class
MONDO:0005665	biolink:NamedThing	Bell's palsy	Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.	mondoexuq1wtf	Bell palsy|Bell's (facial) palsy|facial palsy|facial nerve paralysis|paralysis Of Facial nerve|nerve paralysis, Facial|facial nerve palsy|palsy of facial nerve											MESH:D020330|UMLS:C0376175|SCTID:193093009|DOID:12506|GARD:0005906|NCIT:C26769|ICD9:351.0|ICD10:G51.0|EFO:0007167|COHD:374923																		owl:Class
MONDO:0001835	biolink:NamedThing	facial paralysis	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.	mondoexuq1wtf	palsy of face|facial palsy|face palsy											UMLS:C0015469|SCTID:280816001|DOID:13934|MESH:D005158|ICD10:G51.0																		owl:Class
MONDO:0020584	biolink:NamedThing	anemia due to enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme.	mondoexuq1wtf	anemia due to enzyme disorder											UMLS:C0494226|NCIT:C35472																		owl:Class
MONDO:0002280	biolink:NamedThing	anemia	A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.	mondoexuq1wtf	anaemia|anemia (disease)|anemia		anemia (disease)									MESH:D000740|DOID:2355|ICD9:285.8|ICD10:D64.9|HP:0001903|SCTID:271737000|ICD9:285.9|EFO:0004272|NCIT:C2869																		owl:Class
MONDO:0011747	biolink:NamedThing	dyslexia, susceptibility to, 5		mondoexuq1wtf	dyslexia, susceptibility to, 5|DYX5											OMIM:606896																		owl:Class
MONDO:0005489	biolink:NamedThing	dyslexia	A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.	mondoexuq1wtf	dyslexia (disease)|dyslexia		dyslexia (disease)									EFO:0005424|NCIT:C96410|HP:0010522|DOID:4428|ICD10:F81.0|COHD:442335																		owl:Class
MONDO:0015632	biolink:NamedThing	FASTKD2-related infantile mitochondrial encephalomyopathy		mondoexuq1wtf												ICD10:G71.3|Orphanet:166105																		owl:Class
MONDO:0016799	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder with no known mechanism		mondoexuq1wtf	OXPHOS disease with no known mechanism											Orphanet:254822|UMLS:CN202054																		owl:Class
MONDO:0020417	biolink:NamedThing	right aortic arch	An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.	mondoexuq1wtf	right aortic arch|right aortic arch (disease)		right aortic arch (disease)									NCIT:C103917|HP:0012020|SCTID:111321007|Orphanet:99081|MedDRA:10067407|ICD10:Q25.4																		owl:Class
MONDO:0015236	biolink:NamedThing	aortic arch defects	Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.	mondoexuq1wtf												GARD:0000741|Orphanet:1132|ICD10:Q25.4														https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect				owl:Class
MONDO:0004682	biolink:NamedThing	retromolar area cancer	A malignant form of neoplasm of retromolar area.	mondoexuq1wtf	malignant tumor of retromolar area|malignant neoplasm of retromolar area|neoplasm of retromolar area, malignant											ICD9:145.6|DOID:8930|ICD10:C06.2|SCTID:363391009																		owl:Class
MONDO:0002131	biolink:NamedThing	jaw cancer	A malignant neoplasm involving the jaw skeleton	mondoexuq1wtf	jaw neoplasm|jaw skeleton cancer|malignant jaw skeleton neoplasm|neoplasm of jaw|cancer of jaw skeleton|malignant neoplasm of jaw skeleton											MESH:D007573|EFO:0007333|DOID:1862																		owl:Class
MONDO:0008137	biolink:NamedThing	orofaciodigital syndrome X	Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.	mondoexuq1wtf	orofaciodigital syndrome X|orofaciodigital syndrome type X|oral-facial-digital syndrome type 10|oral-Facial-digital syndrome with fibular aplasia|orofaciodigital syndrome with fibular aplasia|orofaciodigital syndrome type Figuera|oral facial digital syndrome type 10|orofaciodigital syndrome 10|orofaciodigital syndrome type 10|Figuera syndrome|Ofds 10|OFD syndrome 10|oral facial digital syndrome 10|oral-facial-digital syndrome 10|oral-Facial-digital syndrome, type 10|OFD10											DOID:0060380|UMLS:C1833796|MESH:C563491|SCTID:722075004|ICD10:Q87.0|GARD:0004061|OMIM:165590|Orphanet:2756														https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10				owl:Class
MONDO:0000600	biolink:NamedThing	nosophobia	A specific phobia that involves an irrational fear of contracting a disease.	mondoexuq1wtf												DOID:0060048|EFO:1001903																		owl:Class
MONDO:0020106	biolink:NamedThing	hemolytic anemia due to a disorder of glycolytic enzymes		mondoexuq1wtf												UMLS:CN227783|ICD10:D55.2|Orphanet:98372																		owl:Class
MONDO:0011839	biolink:NamedThing	Newfoundland cone-rod dystrophy	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.	mondoexuq1wtf	Newfoundland ROD-cone dystrophy|RLBP1 cone-rod dystrophy|NFRCD|cone-rod dystrophy caused by mutation in RLBP1											UMLS:C1843815|MESH:C564391|OMIM:607476|DOID:0111015																		owl:Class
MONDO:0011255	biolink:NamedThing	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome		mondoexuq1wtf	Verloes-Lesenfants syndrome|macroblepharon-ectropion-hypertelorism-macrostomia syndrome|macroblepharon, ectropion, hypertelorism, and macrostomia|mandibulofacial dysostosis with macroblepharon and macrostomia											Orphanet:357158|UMLS:C1865181|OMIM:602562|MESH:C566520|ICD10:Q87.0																		owl:Class
MONDO:0031012	biolink:NamedThing	autoimmune uveitis	An autoimmune form of uveitis (disease).	mondoexuq1wtf	autoimmune uveitis (disease)											DOID:0040088																		owl:Class
MONDO:0020283	biolink:NamedThing	uveitis	An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.	mondoexuq1wtf	uvea inflammation|uveitis|inflammation of uvea|uveitis (disease)		uveitis (disease)									EFO:1001231|HP:0000554|DOID:13141|UMLS:C0042164|MedDRA:10046851|Orphanet:98715|MESH:D014605|NCIT:C26909|ICD10:H20.9|SCTID:128473001																		owl:Class
MONDO:0019909	biolink:NamedThing	ring chromosome 16	Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.	mondoexuq1wtf	R16|Ring chromosome type 16|Ring chromosome 16 syndrome|chromosome 16 ring|Ring 16											GARD:0010855|ICD10:Q93.2|Orphanet:96178|SCTID:763406004														https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16				owl:Class
MONDO:0018186	biolink:NamedThing	ring chromosome	Aberrant chromosomes with no ends, i.e., circular.	mondoexuq1wtf	r|supernumerary circular chromosome											Orphanet:363203|NCIT:C3360|MESH:D012303|ICD10:Q93.2																		owl:Class
MONDO:0010725	biolink:NamedThing	X-linked retinoschisis	X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.	mondoexuq1wtf	juvenile X-linked retinoschisis|XJR|retinoschisis, X-linked|RS|X-linked juvenile retinoschisis 1|X-linked juvenile retinoschisis|juvenile retinoschisis|XLRS1|X-linked juvenile retinoschisis type 1|retinoschisis 1, X-linked, juvenile|X-linked retinoschisis|retinoschisis juvenile X chromosome-linked|RS1|XLRS|retinoschisis X-linked											ICD10:Q14.1|SCTID:86923008|OMIM:312700|Orphanet:792|GARD:0004690|NCIT:C75483|DOID:0060763																		owl:Class
MONDO:0003351	biolink:NamedThing	colon leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of colon|colon leiomyosarcoma|colonic leiomyosarcoma|leiomyosarcoma of the colon											DOID:5259|NCIT:C5494|UMLS:C1333093																		owl:Class
MONDO:0100250	biolink:NamedThing	46,XX sex reversal 1		mondoexuq1wtf	46,XX true hermaphroditism, SRY-positive|SRXX1|ovotesticular disorder of Sex development|46,XX gonadal dysgenesis, complete, SRY-positive|46,XX Sex reversal, SRY-positive|46,XX SEX reversal 1|46,XX Sex reversal type 1|ovotesticular DSD							http://orcid.org/0000-0001-5208-3432				OMIM:400045																		owl:Class
MONDO:0017143	biolink:NamedThing	genetic infertility	Genetic infertility.	mondoexuq1wtf	genetic infertility|hereditary infertility disorder											Orphanet:275742																		owl:Class
MONDO:0019856	biolink:NamedThing	primary congenital hypothyroidism without thyroid developmental anomaly	Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.	mondoexuq1wtf												ICD10:E03.0|ICD10:E03.1|Orphanet:95714																		owl:Class
MONDO:0016409	biolink:NamedThing	primary congenital hypothyroidism	Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	mondoexuq1wtf												ICD10:E03.1|Orphanet:226295|ICD10:E03.0																		owl:Class
MONDO:0001159	biolink:NamedThing	multiple personality disorder	A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.	mondoexuq1wtf	dissociative identity disorder											NCIT:C94330|DOID:10934|COHD:435230|ICD9:300.14|ICD10:F44.81|SCTID:31611000|MESH:D009105																		owl:Class
MONDO:0009260	biolink:NamedThing	GM1 gangliosidosis type 1	GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.	mondoexuq1wtf	Beta galactosidase deficiency type 1|GM1-gangliosidosis, type I|gangliosidosis generalized GM1 infantile form|GLB deficiency type 1|Norman-Landing disease|gangliosidosis generalized GM1 type 1|gangliosidosis, generalized GM1, type I, with Cardiac involvement|gangliosidosis, generalized GM1, type 1|gangliosidosis, generalized GM1, infantile form|GM1-gangliosidosis, type I, with Cardiac involvement|Beta-galactosidase-1 deficiency|GM1-gangliosidosis, type 1|infantile GM1 gangliosidosis|Glb1 deficiency										MONDO:0023211	DOID:0080502|Orphanet:79255|GARD:0006479|SCTID:238026007|OMIM:230500|ICD10:E75.1														https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1				owl:Class
MONDO:0018149	biolink:NamedThing	GM1 gangliosidosis	GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.	mondoexuq1wtf	deficiency of beta-galactosidase|gangliosidosis GM1|GLB1 deficiency|Landing disease|GLB 1 deficiency|Beta galactosidase 1 deficiency|Beta-galactosidase deficiency|GM>1< gangliosidosis|Landing syndrome|Beta-galactosidase-1 deficiency|Beta-galactosidosis|beta-galactosidase deficiency											MESH:D016537|UMLS:C0085131|ICD10:E75.1|ICD10:E75.19|ICD9:277.6|GARD:0010891|NCIT:C84739|Orphanet:354|DOID:3322|SCTID:124465002																		owl:Class
MONDO:0021480	biolink:NamedThing	benign neoplasm of soft palate	A benign neoplasm that involves the soft palate.	mondoexuq1wtf	benign neoplasm of the soft palate|benign soft palate neoplasm|benign tumor of soft palate|benign soft palate tumor|benign tumor of the soft palate|soft palate benign neoplasm											SCTID:92386006|ICD9:210.4|NCIT:C4404|UMLS:C0345557																		owl:Class
MONDO:0021445	biolink:NamedThing	benign neoplasm of oral cavity	A benign neoplasm that involves the oral cavity.	mondoexuq1wtf	benign neoplasm of the mouth|benign neoplasm of the oral cavity|benign oral cavity neoplasm|benign tumor of the oral cavity|benign mouth tumor|benign oral cavity tumor|benign mouth neoplasm|benign tumor of the mouth|benign tumor of oral cavity|benign tumor of mouth|benign neoplasm of mouth|oral cavity benign neoplasm											ICD9:210.4|SCTID:419645003|UMLS:C0347197|NCIT:C7607																		owl:Class
MONDO:0003202	biolink:NamedThing	pituitary gland basophilic carcinoma		mondoexuq1wtf	pituitary gland basophil carcinoma|basophil adenocarcinoma|basophilic carcinoma|basophil carcinoma (morphologic abnormality)|basophil carcinoma											UMLS:C1704778|NCIT:C27392|DOID:4915																		owl:Class
MONDO:0020657	biolink:NamedThing	human papillomavirus-related squamous cell carcinoma		mondoexuq1wtf	human papilloma virus related squamous cell carcinoma|human papillomavirus-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma|HPV-related squamous cell carcinoma											NCIT:C27683																		owl:Class
MONDO:0002343	biolink:NamedThing	splenic hemangioma	A hemangioma arising from the spleen.	mondoexuq1wtf	spleen hemangioma|splenic hemangioma|splenic angioma|hemangioma of spleen|angioma of the spleen|angioma of spleen|hemangioma of the spleen|spleen angioma											UMLS:C0685201|NCIT:C8541|SCTID:93472004|DOID:256																		owl:Class
MONDO:0002337	biolink:NamedThing	intra-abdominal hemangioma	A hemangioma arising from organs within the abdominal cavity.	mondoexuq1wtf	hemangioma of intra-abdominal structures|intra-abdominal hemangioma|hemangioma of intra-abdominal structure|hemangioma, intra-abdominal|hemangioma of abdominal cavity|abdominal cavity hemangioma											UMLS:C0154052|NCIT:C3635|ICD9:228.04|SCTID:189197001|DOID:254|COHD:197239|ICD10:D18.03																		owl:Class
MONDO:0001790	biolink:NamedThing	spinal cord lipoma	A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.	mondoexuq1wtf	spinal cord lipoma|lipoma of spinal cord											ICD9:214.8|UMLS:C0347446|DOID:13743|SCTID:189017000|NCIT:C4619																		owl:Class
MONDO:0021506	biolink:NamedThing	benign neoplasm of spinal cord	A benign neoplasm that involves the spinal cord.	mondoexuq1wtf	benign tumor of spinal cord|benign neoplasm of the spinal cord|benign tumor of the spinal cord|benign spinal cord tumor|spinal cord benign neoplasm|benign spinal cord neoplasm|spinal cord neoplasm, benign											ICD9:225.3|SCTID:92405007|NCIT:C3627|ICD10:D33.4|UMLS:C0154034																		owl:Class
MONDO:0010691	biolink:NamedThing	Norrie disease	Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.	mondoexuq1wtf	Norrie-Warburg syndrome|atrophia bulborum hereditaria|Episkopi blindness|Norrie-Warburg disease|fetal iritis syndrome|Norrie disease|Norrie syndrome|Anderson-Warburg syndrome|NDP|nd|pseudoglioma|ND											ICD9:743.8|GARD:0007224|DOID:0060844|NCIT:C118634|MedDRA:10069760|ICD10:H35.5|MESH:C537849|Orphanet:649|SCTID:15228007|OMIM:310600														https://rarediseases.info.nih.gov/diseases/7224/norrie-disease				owl:Class
MONDO:0020247	biolink:NamedThing	congenital vitreoretinal dysplasia		mondoexuq1wtf	vitreoretinal dysplasia											ICD10:Q14.1|ICD9:743.56|Orphanet:98669|SCTID:449866003																		owl:Class
MONDO:0012521	biolink:NamedThing	herpes simplex encephalitis	Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.	mondoexuq1wtf	HSVE|HSE|herpetic encephalitis|Herpes simplex meningo-encephalitis|Simplexvirus caused infectious encephalitis|Herpes simplex neuroinvasion|HSV encephalitis|Herpes simplex virus encephalitis|Simplexvirus infectious encephalitis											MESH:D020803|Orphanet:1930|NCIT:C84762|ICD10:B00.4+|ICD10:G05.1*|GARD:0006649														https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis				owl:Class
MONDO:0004609	biolink:NamedThing	herpes simplex infectious disease	A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)	mondoexuq1wtf	Simplexvirus disease or disorder|Simplexvirus caused disease or disorder|herpes simplex complex|Simplexvirus infectious disease|Herpesvirus hominis disease|herpes simplex viral infection|herpes simplex infection|herpes simplex											ICD9:058.89|EFO:1002022|MESH:D006561|UMLS:C0019348|SCTID:88594005|ICD9:054|ICD10:B00|COHD:444429|ICD10:B00.9|DOID:8566																		owl:Class
MONDO:0001692	biolink:NamedThing	pedophilia	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.	mondoexuq1wtf	Paedophilia											SCTID:84002002|NCIT:C94355|ICD9:302.2|ICD10:F65.4|DOID:13351|MESH:D010378																		owl:Class
MONDO:0000596	biolink:NamedThing	paraphilic disorder	Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)	mondoexuq1wtf	disorder of sexual preference|Paraphilias|disorder, Paraphilic|deviation, Sex|disorders, Paraphilic|paraphilic disorder|paraphilia disorder|Deviations, Sex|Sex deviation|paraphilia|Sex Deviations											SCTID:50299009|MESH:D010262|DOID:0060044																		owl:Class
MONDO:0004652	biolink:NamedThing	bacterial pneumonia	Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.	mondoexuq1wtf	gram-negative pneumonia|Bacteria caused pneumonia|pneumonia due to other gram-negative bacteria|Bacteria pneumonia											EFO:1001272|COHD:257315|ICD9:482.89|DOID:874|NCIT:C26704|UMLS:C0004626|ICD9:482.9|MESH:D018410|ICD10:J15.9|SCTID:53084003																		owl:Class
MONDO:0011989	biolink:NamedThing	leishmaniasis	Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).	mondoexuq1wtf	cutaneous leishmaniasis (subtype)|post-kala-azar dermal leishmaniasis|post-kala-azar dermal infectious disease by leishmaniasis|post kala-Azar dermal leishmaniasis|visceral leishmaniasis (subtype)											ICD9:085|ICD9:085.9|MESH:D007896|ICD10:B55.0|NCIT:C34767|GARD:0006881|SCTID:80612004|UMLS:C0023281|MedDRA:10024198|ICD10:B55.2|ICD10:B55|EFO:0005044|ICD10:B55.9|Orphanet:507|DOID:9065|ICD10:B55.1|COHD:433407																		owl:Class
MONDO:0018071	biolink:NamedThing	trisomy 18	Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.	mondoexuq1wtf	trisomy 18|chromosome 18 trisomy|complete trisomy 18 syndrome|chromosome 18 duplication|18 trisomy|Edwards syndrome|trisomy 16-18 (formerly)|trisomy E (formerly)|E3 trisomy|trisomy type 18											MedDRA:10053884|ICD9:758.2|ICD10:Q91.0|NCIT:C36626|ICD10:Q91.2|ICD10:Q91.1|MESH:C580500|UMLS:C0152096|ICD10:Q91.3|GARD:0006321|Orphanet:3380|SCTID:51500006|DOID:1085																		owl:Class
MONDO:0100105	biolink:NamedThing	brain small vessel disease 3	An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.	mondoexuq1wtf	BSVD3							http://orcid.org/0000-0001-5208-3432				OMIM:618360																		owl:Class
MONDO:0020496	biolink:NamedThing	familial porencephaly	An instance of porencephaly that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary porencephaly|familial porencephalic white matter disease											OMIMPS:175780|GARD:0002258|ICD10:Q04.6|Orphanet:99810														https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly				owl:Class
MONDO:0005411	biolink:NamedThing	gallbladder cancer	A malignant neoplasm involving the gall bladder	mondoexuq1wtf	gallbladder neoplasm|gallbladder Ca|malignant gallbladder tumor|malignant gallbladder neoplasm|malignant tumor of the gallbladder|malignant neoplasm of gall bladder|localized malignant gallbladder neoplasm|tumor of the gallbladder|malignant tumor of gallbladder|malignant neoplasm of gallbladder|malignant tumour of gallbladder|gall bladder cancer|cancer of gall bladder|malignant gall bladder neoplasm|malignant neoplasm of the gallbladder											SCTID:363353009|ONCOTREE:GBC|COHD:4181327|ICD9:156.0|NCIT:C7481|GARD:0009328|UMLS:C0153452|ICD9:156.8|ICD10:C23|DOID:3121|EFO:0004606																		owl:Class
MONDO:0002516	biolink:NamedThing	digestive system cancer	A primary or metastatic malignant neoplasm involving any part of the digestive system.	mondoexuq1wtf	gastrointestinal system cancer|malignant gastrointestinal system neoplasm|gastrointestinal tract cancer|cancer of digestive system|GI tumor|malignant gastrointestinal neoplasm|digestive system cancer|malignant digestive system neoplasm|malignant neoplasm of digestive system											ICD10:C26.9|NCIT:C4890|ICD10:C15.C26|ICD9:239.0|DOID:3119																		owl:Class
MONDO:0016754	biolink:NamedThing	vestibular schwannoma	Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.	mondoexuq1wtf	vestibular schwannoma (disease)|vestibular schwannoma|acoustic neuroma|acoustic neurilemoma|acoustic neurinoma		vestibular schwannoma (disease)									Orphanet:252175|ICD10:D33.3|MedDRA:10000523|HP:0009588																		owl:Class
MONDO:0008394	biolink:NamedThing	Silver-Russell syndrome	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.	mondoexuq1wtf	Russell-Silver dwarfism|Silver Russell syndrome|Russell-Silver syndrome|Silver-Russell syndrome|Silver-Russell dwarfism|Russell Silver syndrome|Silver Russell dwarfism|SRS											ICD10:Q87.1|ICD9:759.89|GARD:0004870|DOID:14681|MedDRA:10062282|UMLS:C0175693|Orphanet:813|OMIMPS:180860|NCIT:C85068|SCTID:15069006|MESH:D056730																		owl:Class
MONDO:0007225	biolink:NamedThing	fibular aplasia-ectrodactyly syndrome	Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.	mondoexuq1wtf	fibular aplasia ectrodactyly|brachydactyly-ectrodactyly with fibular aplasia or hypoplasia											ICD10:Q73.8|MESH:C537930|Orphanet:1118|OMIM:113310|GARD:0002331|UMLS:C1862100																		owl:Class
MONDO:0003906	biolink:NamedThing	ovarian yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.	mondoexuq1wtf	hepatoid pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, hepatoid pattern											NCIT:C39989|DOID:6512|UMLS:C1518748																		owl:Class
MONDO:0006344	biolink:NamedThing	ovarian yolk sac tumor	A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.	mondoexuq1wtf	ovarian germ cell endodermal sinus tumor|germ cell endodermal sinus tumor of the ovary|endodermal sinus tumor of ovary|yolk Sac neoplasm of ovary|ovary yolk sac tumor|ovarian yolk sac tumor|endodermal sinus tumor of the ovary|yolk sac tumor|yolk Sac tumor of the ovary|ovarian endodermal sinus tumor|yolk Sac tumor of ovary|germ cell endodermal sinus tumor of ovary|ovarian yolk Sac neoplasm|endodermal sinus neoplasm of the ovary|yolk Sac neoplasm of the ovary|endodermal sinus neoplasm of ovary|ovarian endodermal sinus neoplasm|germ cell endodermal sinus neoplasm of ovary|ovarian germ cell endodermal sinus neoplasm|germ cell endodermal sinus neoplasm of the ovary											ONCOTREE:OYST|EFO:1000437|NCIT:C8107|UMLS:C0346188|DOID:5350|SCTID:254876005																		owl:Class
MONDO:0002268	biolink:NamedThing	dyspepsia	An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.	mondoexuq1wtf	indigestion|dyspepsia, indigestion											NCIT:C26756|COHD:439418|MESH:D004415|ICD10:R10.13|EFO:0008533|DOID:2321|ICD10:K30																		owl:Class
MONDO:0001318	biolink:NamedThing	functional gastric disease		mondoexuq1wtf	disorder of stomach function|functional gastric disturbance|disorder of gastric function|disorder of function of stomach|functional gastric disorder											SCTID:150541000119104|ICD9:536.8|ICD9:536.9|DOID:1159|ICD9:306.4|SCTID:386211005																		owl:Class
MONDO:0042973	biolink:NamedThing	familial osteosclerosis	An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary osteosclerosis											GARD:0004174																		owl:Class
MONDO:0044646	biolink:NamedThing	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		mondoexuq1wtf	encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|PEBAT											UMLS:C4310671|Orphanet:496641|OMIM:617193																		owl:Class
MONDO:0010041	biolink:NamedThing	Charlevoix-Saguenay spastic ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.	mondoexuq1wtf	ARSACS|autosomal recessive spastic ataxia of Charlevoix-Saguenay|spastic ataxia Charlevoix-Saguenay type|Charlevoix-Saguenay spastic ataxia|autosomal recessive spastic ataxia type 6|spastic ataxia of Charlevoix-Saguenay|sacs|SPAX6|spastic ataxia, Charlevoix-Saguenay type|spastic ataxia 6, autosomal recessive											UMLS:C1849140|ICD10:G11.1|GARD:0004910|DOID:0050946|MESH:C536787|Orphanet:98|SCTID:702445005|OMIM:270550																		owl:Class
MONDO:0001849	biolink:NamedThing	chronic orbital inflammation		mondoexuq1wtf	chronic inflammation of orbit											DOID:1397|SCTID:44729001|ICD9:376.10|UMLS:C0155261|ICD10:H05.1|COHD:433773|ICD9:376.1																		owl:Class
MONDO:0004751	biolink:NamedThing	disease of orbital part of eye adnexa	Diseases of the bony orbit and contents except the eyeball.	mondoexuq1wtf	orbital disease					Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa						DOID:930|ICD10:H05.9|UMLS:C0029182|ICD9:376|ICD10:H05|ICD9:376.9|MESH:D009916																		owl:Class
MONDO:0012518	biolink:NamedThing	congenital myasthenic syndrome 12	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.	mondoexuq1wtf	myasthenic syndrome, congenital, with tubular aggregates 1|myasthenic syndrome, congenital, 12|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|congenital myasthenic syndrome type 12|congenital myasthenia 12 with tubular aggregates|myasthenic syndrome, congenital, type 12|CMS12|GFPT1 congenital myasthenic syndromes with glycosylation defect											DOID:0110660|OMIM:610542																		owl:Class
MONDO:0024905	biolink:NamedThing	bird disease	Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.	mondoexuq1wtf	Avian disease|disease, Bird|diseases, Avian|disease, Avian|Avian diseases|diseases, Bird|bird disease											UMLS:C0005591|MESH:D001715																		owl:Class
MONDO:0018283	biolink:NamedThing	primary qualitative or quantitative defects of alpha-dystroglycan		mondoexuq1wtf	primary dystroglycanopathy|primary alpha-dystroglycanopathy											ICD10:G71.2|Orphanet:371040																		owl:Class
MONDO:0000536	biolink:NamedThing	pharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the pharynx.	mondoexuq1wtf	pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharynx squamous cell carcinoma|pharyngeal squamous cell carcinoma|pharyngeal squam. cell carcinoma											SCTID:408649007|NCIT:C102872|UMLS:C1319317|DOID:0050921|EFO:1001965																		owl:Class
MONDO:0004979	biolink:NamedThing	asthma	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.	mondoexuq1wtf	exercise induced asthma|bronchial hyperreactivity|chronic obstructive asthma with acute exacerbation|chronic obstructive asthma|chronic obstructive asthma with status asthmaticus|exercise-induced asthma											GARD:0010246|COHD:317009|ICD10:J45.90|ICD9:493.9|EFO:0000270|SCTID:31387002|HP:0002099|DOID:2841|UMLS:C0004096|ICD10:J45.909|ICD9:493|NCIT:C28397|ICD9:493.81|KEGG:05310|ICD10:J45|MESH:D001249																		owl:Class
MONDO:0001358	biolink:NamedThing	bronchial disease	A disease involving the bronchus.	mondoexuq1wtf	disease or disorder of bronchus|disease of bronchus|bronchus disease or disorder|bronchus disease|disorder of bronchus|bronchial disorder|bronchospasm											DOID:1176|UMLS:C0006261|SCTID:41427001|ICD9:519.19|COHD:256717|MESH:D001982|NCIT:C34439|EFO:1002018																		owl:Class
MONDO:0020768	biolink:NamedThing	X-linked deafness		mondoexuq1wtf	deafness, X-linked, DFN|DFNX|deafness, X-linked					Note that this encompasses both syndromic and non-syndromic types.						OMIMPS:304500|GARD:0001715																		owl:Class
MONDO:0017953	biolink:NamedThing	hereditary periodic fever syndrome	An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary periodic fever syndrome											Orphanet:324924|UMLS:CN204099|ICD10:E85.0|MESH:D056660																		owl:Class
MONDO:0021160	biolink:NamedThing	gonococcal cystitis	An cystitis caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis											SCTID:197848003|UMLS:C0473230																		owl:Class
MONDO:0016075	biolink:NamedThing	filariasis	A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.	mondoexuq1wtf	disease due to superfamily Filarioidea											Orphanet:2034|NCIT:C34611|ICD10:B74.8|ICD10:B74.9|ICD9:125.9|UMLS:C0016085|MESH:D005368|ICD10:B74.3|DOID:1080|SCTID:105706003|ICD10:B74.1|ICD10:B74.2|MedDRA:10016674|ICD10:B74|ICD10:B74.4|ICD10:B74.0																		owl:Class
MONDO:0009643	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A		mondoexuq1wtf	MOCODA|molybdenum cofactor deficiency complementation group A|molybdenum cofactor deficiency, complementation group type a|molybdenum cofactor deficiency, complementation group A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|MOCOD type A|sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency type A											OMIM:252150|UMLS:C1854988|Orphanet:308386|PMID:9731530|ICD10:E72.1|DOID:0111164|MESH:C565372																		owl:Class
MONDO:0010833	biolink:NamedThing	Hirschsprung disease, susceptibility to, 2	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.	mondoexuq1wtf	susceptibility to Hirschsprung disease 2|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease, susceptibility to, type 2|Hirschsprung disease type 2|EDNRB Hirschsprung disease|Hirschsprung disease caused by mutation in EDNRB|HSCR2											GARD:0002698|OMIM:600155														https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2				owl:Class
MONDO:0018309	biolink:NamedThing	Hirschsprung disease	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.	mondoexuq1wtf	aganglionic megacolon|pelvirectal achalasia|congenital intestinal aganglionosis|Hirschsprung's disease|macrocolon|HSCR|Hirschsprung disease|Hirschsprung disease susceptibility|congenital megacolon											MedDRA:10010539|UMLS:C0019569|Orphanet:388|SCTID:204739008|ICD10:Q43.1|UMLS:C3661523|COHD:194149|OMIMPS:142623|DOID:10487|NCIT:C34700|GARD:0006660|MESH:D006627																		owl:Class
MONDO:0003342	biolink:NamedThing	benign perivascular tumor	A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	mondoexuq1wtf	pericytic neoplasm, benign|benign perivascular tumor|benign Pericytic tumor|benign pericytic neoplasm|benign perivascular neoplasm|benign Pericytic neoplasm											UMLS:C1332532|DOID:5238|NCIT:C6529																		owl:Class
MONDO:0002604	biolink:NamedThing	pericytic neoplasm	A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	mondoexuq1wtf	Pericytic tumor|malignant perivascular cancer|Pericytic neoplasm|perivascular neoplasm|perivascular tumor											UMLS:C1335392|NCIT:C6528|DOID:3316																		owl:Class
MONDO:0013826	biolink:NamedThing	autosomal recessive nonsyndromic deafness 86	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	mondoexuq1wtf	autosomal recessive deafness 86|DFNB86|deafness, autosomal recessive 86|TBC1D24 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 86|deafness, autosomal recessive type 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24											UMLS:C2829265|OMIM:614617|DOID:0110532|ICD10:H90.3																		owl:Class
MONDO:0015327	biolink:NamedThing	developmental anomaly of metabolic origin		mondoexuq1wtf												Orphanet:139009																		owl:Class
MONDO:0013528	biolink:NamedThing	intellectual disability, autosomal recessive 14	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.	mondoexuq1wtf	intellectual disability, autosomal recessive 14|TECR autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 14|MRT14|mental retardation, autosomal recessive 14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|mental retardation, autosomal recessive type 14											OMIM:614020|UMLS:C3151462																		owl:Class
MONDO:0020543	biolink:NamedThing	theca steroid-producing cell malignant tumor of ovary, not further specified	Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.	mondoexuq1wtf	theca (steroid-producing) cell cancer, not further specified					Editor note: TODO						Orphanet:99917|UMLS:CN207444|ICD10:C56																		owl:Class
MONDO:0018172	biolink:NamedThing	malignant sex cord stromal tumor of ovary	Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.	mondoexuq1wtf	malignant ovarian Sex cord-stromal tumor|malignant Sex cord-stromal tumor of the ovary|malignant ovarian sex cord-stromal tumor|malignant Sex cord-stromal tumor of ovary|malignant ovarian SCST|ovarian sex cord-stromal tumor, malignant|malignant ovarian Sex cord-stromal neoplasm											UMLS:C1334609|UMLS:CN204631|Orphanet:35808|ICD10:C56|NCIT:C8053																		owl:Class
MONDO:0007089	biolink:NamedThing	Alzheimer disease 2	An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.	mondoexuq1wtf	Alzheimer disease type 2|Alzheimer disease 2, late-onset|LOFAD|Alzheimer disease associated with APOE E4|Alzheimer disease associated with Apoe4|Alzheimer's disease type 2|Alzheimer disease associated with APOE4|Alzheimer disease 2, late onset|late onset familial Alzheimer disease|late onset Alzheimer disease|AD2|Alzheimer disease-2|Alzheimer's disease 2|Alzheimer disease 2											OMIM:104310|GARD:0009467|DOID:0110035|MESH:C536595|UMLS:C1863051|ICD10:G30																		owl:Class
MONDO:0004975	biolink:NamedThing	Alzheimer disease	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.	mondoexuq1wtf	Alzheimers disease|Alzheimer dementia|AD|Alzheimer disease|Alzheimer disease, familial|Alzheimers dementia|Alzheimer's disease|Alzheimer's dementia											ICD9:331.0|DOID:10652|UMLS:C0002395|MESH:D000544|SCTID:142811000119104|ICD10:G30.9|KEGG:05010|NCIT:C2866|ICD9:290.1|COHD:378419|HP:0002511|GARD:0000632|EFO:0000249|NIFSTD:birnlex_2092|ICD10:G30																		owl:Class
MONDO:0009796	biolink:NamedThing	ornithine aminotransferase deficiency	Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.	mondoexuq1wtf	Ornithinemia with gyrate atrophy|hoga|hyperornithinemia with gyrate atrophy of choroid and retina|Fuchs atrophia gyrata chorioideae et retinae|Oat deficiency|gyrate atrophy of choroid and retina|Fuchs gyrate atrophy of the choroid and retina|gyrate atrophy|Girate atrophy of the retina|gyrate atrophy of the retina|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy of the choroid and/or retina|GACR|Fuchs gyrate atrophy|ornithine aminotransferase deficiency|ornithine-Delta-aminotransferase deficiency|Okt deficiency|OAT deficiency|Ornithinemia|OKT deficiency|hyperornithinemia|ornithine ketoacid aminotransferase deficiency|ornithine Keto acid aminotransferase deficiency											GARD:0006556|OMIM:258870|MESH:D015799|NCIT:C84744|ICD10:E72.4|DOID:1415|Orphanet:414|UMLS:C0018425|MESH:C538071|GARD:0007272														https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina				owl:Class
MONDO:0020280	biolink:NamedThing	metabolic disease with cataract		mondoexuq1wtf												UMLS:CN207083|Orphanet:98712																		owl:Class
MONDO:0021669	biolink:NamedThing	post-infectious disorder	A disorder that follows infection but is distinct from the infection itself and its usual manifestations.	mondoexuq1wtf	sequela of infectious disorder											SCTID:123976001|ICD9:139.8																		owl:Class
MONDO:0012299	biolink:NamedThing	nanophthalmos 2	Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.	mondoexuq1wtf	MFRP nanophthalmia|nanophthalmia caused by mutation in MFRP|nanophthalmos type 2|nanophthalmos 2|nanophthalmos, autosomal recessive|NNO2|Nanophthalmia 2											UMLS:C1836006|OMIM:609549|MESH:C563700																		owl:Class
MONDO:0043735	biolink:NamedThing	osteoradionecrosis	Necrosis of bone following radiation injury.	mondoexuq1wtf	radiation necrosis of bone|Osteoradionecroses|osteoradionecrosis											MESH:D010025|NCIT:C63707|SCTID:109333005																		owl:Class
MONDO:0005380	biolink:NamedThing	osteonecrosis	A none disease characterized by death of bone tissue due to a lack of blood supply.	mondoexuq1wtf	aseptic necrosis|osteonecrosis|ischemic bone disease|bone necrosis											DOID:0080008|ICD10:M87.1|ICD9:733.43|NCIT:C34880|GARD:0012057|ICD9:732.3|ICD10:M87.8|ICD9:733.44|ICD9:733.42|ICD10:M87.3|EFO:0004259|ICD9:733.4|NCIT:C35476|ICD10:M87|ICD10:M87.2|ICD9:733.41|ICD9:733.49|DOID:10159|MESH:D010020|Orphanet:399158|COHD:4344387|SCTID:240196003|ICD10:M87.9|ICD10:M87.0																		owl:Class
MONDO:0012854	biolink:NamedThing	bilateral microtia-deafness-cleft palate syndrome	This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	mondoexuq1wtf	microtia with or without hearing impairment|microtia, hearing impairment, and cleft palate											MESH:C567359|UMLS:C2676772|OMIM:612290|ICD10:Q87.0|Orphanet:140963																		owl:Class
MONDO:0025114	biolink:NamedThing	protozoan infections, animal	Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.	mondoexuq1wtf	infections, animal protozoan|protozoan infection, animal|animal protozoan infection|animal protozoan infections|infection, animal protozoan											UMLS:C0033741|MESH:D011529																		owl:Class
MONDO:0024969	biolink:NamedThing	parasitic disease, non-human animal	Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.	mondoexuq1wtf	disease, animal parasitic|diseases, animal parasitic|animal parasitic diseases|parasitic disease, animal|animal parasitic disease											MESH:D010273|UMLS:C0030500																		owl:Class
MONDO:0009902	biolink:NamedThing	cutaneous porphyria	Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.	mondoexuq1wtf	uroporphyrinogen III synthase, deficiency of|Gunther disease|porphyria, congenital erythropoietic|erythropoietic porphyria|congenital porphyria|congenital erythropoietic porphyria|Cep|CEP|uroporphyrinogen 3 synthase deficiency|Uros deficiency|Günther disease											DOID:13271|ICD10:E80.0|GARD:0004446|NCIT:C84697|MESH:D017092|Orphanet:79277|SCTID:67312003|OMIM:263700																		owl:Class
MONDO:0019142	biolink:NamedThing	inherited porphyria	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.	mondoexuq1wtf	Porphyrinopathy|Hematoporphyria|disorder of porphyrin and heme metabolism|hereditary porphyria|disorder of porphyrin metabolism|disorder of porphyrin and hem metabolism|porphyria					Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic						Orphanet:738|GARD:0010353|UMLS:C0032708|COHD:434908|MedDRA:10061356|ICD10:E80.20|ICD10:E80.2|NCIT:C97096|ICD10:E80.0|ICD10:E80.1|ICD9:277.1|MedDRA:10036181|MESH:D011164|DOID:13268|SCTID:371628009														https://rarediseases.info.nih.gov/diseases/10353/porphyria				owl:Class
MONDO:0003038	biolink:NamedThing	dysgraphia	Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)	mondoexuq1wtf	dysgraphia (disease)|dysgraphia		dysgraphia (disease)									DOID:4540|ICD10:R48.8|HP:0010526																		owl:Class
MONDO:0000599	biolink:NamedThing	writing disorder	A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.	mondoexuq1wtf												DOID:0060047																		owl:Class
MONDO:0001324	biolink:NamedThing	hyperandrogenism	A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction.	mondoexuq1wtf	hyperandrogenization syndrome											SCTID:237793004|DOID:11613|EFO:0009006|UMLS:C0206081|MESH:D017588																		owl:Class
MONDO:0020426	biolink:NamedThing	malposition of the coronary ostium	Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.	mondoexuq1wtf												ICD10:Q24.5|Orphanet:99090																		owl:Class
MONDO:0019826	biolink:NamedThing	abnormal origin or aberrant course of coronary artery		mondoexuq1wtf												ICD10:Q24.5|Orphanet:95493																		owl:Class
MONDO:0007639	biolink:NamedThing	fundus albipunctatus	Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.	mondoexuq1wtf	fundus albipunctatus|retinitis punctata albescens|pigmentary retinal dystrophy											MESH:C562733|ICD10:H35.52|Orphanet:227796|ICD9:362.76|ICD9:362.74|OMIM:136880|ICD10:H35.5|SCTID:68222009|COHD:373472|DOID:11105																		owl:Class
MONDO:0016420	biolink:NamedThing	familial flecked retinopathy		mondoexuq1wtf	hereditary flecked retinopathy											Orphanet:227786|ICD10:H35.5|UMLS:CN226924																		owl:Class
MONDO:0005641	biolink:NamedThing	aleutian mink disease	A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.	mondoexuq1wtf	Aleutian mink disease virus disease or disorder|Aleutian mink disease virus caused disease or disorder|Aleutian disease|Aleutian mink disease virus infectious disease											UMLS:C0002016|SCTID:62251004|EFO:0007139|MESH:D000453|ICD9:079.89|DOID:2934																		owl:Class
MONDO:0025371	biolink:NamedThing	Parvoviridae infectious disease	Virus infections caused by the parvoviridae.	mondoexuq1wtf	disease caused by Parvoviridae|Parvoviridae disease or disorder|Parvovirus infection|Parvoviridae caused disease or disorder|Parvoviridae infection|Parvovirus infections|infection, Parvoviridae|disease due to Parvoviridae|infections, Parvovirus|infections, Parvoviridae|infection, Parvovirus											SCTID:83223005|MESH:D010322|ICD9:078.89																		owl:Class
MONDO:0001881	biolink:NamedThing	toxic shock syndrome	A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.	mondoexuq1wtf	toxic shock|toxic shock syndrome, (TSS)|toxic shock syndrome|syndrome (TSS), toxic shock|staphylococcal toxic shock syndrome|bacterial TSS|TSS|TSS, toxic shock syndrome|shock syndrome (TSS), toxic|bacterial toxic-shock syndrome											UMLS:C0600327|COHD:201214|SCTID:18504008|DOID:14115|Orphanet:36234|MESH:D012772|ICD10:A48.3|GARD:0009560|NCIT:C35498|ICD9:040.82|UMLS:CN204669																		owl:Class
MONDO:0011129	biolink:NamedThing	glaucoma type 1C		mondoexuq1wtf	GLC1C|glaucoma 1, primary open angle, C											UMLS:C1866483|OMIM:601682|GARD:0002484														https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c				owl:Class
MONDO:0004291	biolink:NamedThing	subglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.	mondoexuq1wtf	subglottic epidermoid carcinoma|epidermoid carcinoma of the subglottis|epidermoid carcinoma of subglottis|subglottic squamous cell carcinoma|squamous cell carcinoma of subglottis|squamous cell carcinoma of the subglottis|subglottis squamous cell carcinoma|subglottis epidermoid carcinoma											DOID:7585|UMLS:C0280326|NCIT:C8187																		owl:Class
MONDO:0004358	biolink:NamedThing	subglottis carcinoma	A carcinoma of the larynx that arises from the subglottic area.	mondoexuq1wtf	subglottic throat cancer|cancer of the subglottis|subglottis carcinoma|subglottic cancer|cancer of subglottis|subglottic carcinoma|carcinoma of the subglottis|carcinoma of subglottis											SCTID:372104008|DOID:7764|NCIT:C5972|UMLS:C1299239																		owl:Class
MONDO:0032758	biolink:NamedThing	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia		mondoexuq1wtf	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA|NDCAMA											OMIM:618451																		owl:Class
MONDO:0015337	biolink:NamedThing	isolated craniosynostosis	A craniosynostosis that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic craniosynostosis											ICD10:Q75.0|Orphanet:139390																		owl:Class
MONDO:0015469	biolink:NamedThing	craniosynostosis	Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.	mondoexuq1wtf	premature closure of cranial sutures|CSO|craniosynostosis syndrome											MedDRA:10049889|GARD:0006209|DOID:2340|MESH:D003398|UMLS:C0010278|NCIT:C84655|OMIMPS:123100|Orphanet:1531|MedDRA:10048907|ICD10:Q75.0																		owl:Class
MONDO:0032934	biolink:NamedThing	genitourinary and/or brain malformation syndrome		mondoexuq1wtf	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME|GUBS											OMIM:618820																		owl:Class
MONDO:0019689	biolink:NamedThing	perlecan-related bone disorder		mondoexuq1wtf												UMLS:CN227675|Orphanet:93424																		owl:Class
MONDO:0016583	biolink:NamedThing	familial intestinal malrotation-facial anomalies syndrome		mondoexuq1wtf	Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type|Stalker-Chitayat syndrome											GARD:0005000|Orphanet:2454|ICD10:Q43.3																		owl:Class
MONDO:0016398	biolink:NamedThing	peroxisomal disease with epilepsy		mondoexuq1wtf												UMLS:CN201329|Orphanet:225686																		owl:Class
MONDO:0002195	biolink:NamedThing	vulvar squamous neoplasm	A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.	mondoexuq1wtf	mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor											NCIT:C40283|DOID:2072|UMLS:C1520097																		owl:Class
MONDO:0011797	biolink:NamedThing	infantile-onset ascending hereditary spastic paralysis	Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.	mondoexuq1wtf	spastic paralysis, infantile-onset ascending|IAHSP|spastic paralysis, infantile onset ascending											UMLS:C2931441|MESH:C537217|ICD9:343.8|GARD:0004914|OMIM:607225|SCTID:703543005|Orphanet:293168|ICD10:G12.2														https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis				owl:Class
MONDO:0021568	biolink:NamedThing	renal tubule disease	A disease that involves the renal tubule.	mondoexuq1wtf	disease or disorder of renal tubule|renal tubular disease|renal tubular disorder|renal tubule disease or disorder|disease of renal tubule|disorder of renal tubule|renal tubule disease											ICD9:588.89|UMLS:C0151747|SCTID:95568003																		owl:Class
MONDO:0011426	biolink:NamedThing	aceruloplasminemia	Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.	mondoexuq1wtf	familial apoceruloplasmin deficiency|hemosiderosis, systemic, due to aceruloplasminemia|aceruloplasminemia|systemic hemosiderosis due to aceruloplasminemia|ceruloplasmin deficiency|hypoceruloplasminemia|hereditary ceruloplasmin deficiency											ICD10:G23.0|DOID:0050711|Orphanet:48818|GARD:0009499|SCTID:124224004|OMIM:604290|ICD9:277.6														https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia				owl:Class
MONDO:0013569	biolink:NamedThing	short-rib thoracic dysplasia 7 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.	mondoexuq1wtf	short rib-polydactyly syndrome, type 5|SRPS5|short rib-polydactyly syndrom type V|short rib-polydactyly syndrome type 5|short-rib thoracic dysplasia 7 with or without polydactyly|SRTD7											Orphanet:498497|UMLS:C3279792|OMIM:614091|ICD10:Q77.2|DOID:0110090																		owl:Class
MONDO:0017818	biolink:NamedThing	lethal arteriopathy syndrome due to fibulin-4 deficiency		mondoexuq1wtf												UMLS:CN203788|Orphanet:314718																		owl:Class
MONDO:0007187	biolink:NamedThing	nevoid basal cell carcinoma syndrome	A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.	mondoexuq1wtf	multiple basal cell carcinomas|Gorlin-Goltz syndrome|NBCCS|BCNS|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|Gorlin syndrome|nevoid basal cell cancer syndrome|nevoid basal cell carcinoma syndrome|basal cell nevus syndrome											GARD:0007166|OMIM:109400|DOID:2512|SCTID:69408002|NCIT:C2892|ICD10:Q87.8|MESH:D001478|UMLS:C0004779|Orphanet:377|MedDRA:10062804																		owl:Class
MONDO:0042983	biolink:NamedThing	neurocutaneous syndrome	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.	mondoexuq1wtf	Phakomatoses|neuroectodermal dysplasia syndrome|syndrome, neuroectodermal dysplasia|Phacomatoses|neuroectodermal dysplasia|syndromes, neurocutaneous|syndrome, neurocutaneous|neuroectodermal dysplasia syndromes|neurocutaneous syndrome|syndromes, neuroectodermal dysplasia|Phacomatosis|neurocutaneous disorders|neurocutaneous disorder|phakomatosis					A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category						MESH:D020752|NCIT:C84348|UMLS:C0265316|SCTID:78572006																		owl:Class
MONDO:0017741	biolink:NamedThing	disorder of protein O-glycosylation	A disease that has its basis in the disruption of protein O-linked glycosylation.	mondoexuq1wtf	disorder of protein O-linked glycosylation|protein O-linked glycosylation disease											Orphanet:309447|UMLS:CN227188|ICD10:E77.8																		owl:Class
MONDO:0045010	biolink:NamedThing	glycoprotein metabolism disease	A disease that has its basis in the disruption of glycoprotein metabolic process.	mondoexuq1wtf	glycoprotein metabolism disease|glycoprotein metabolic process disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process					Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder)						UMLS:C0342844|SCTID:238045003																		owl:Class
MONDO:0001312	biolink:NamedThing	acute serous otitis media	A acute transudative otitis media with thin, watery and sterile effusion.	mondoexuq1wtf	acute non-suppurative otitis media - serous											ICD10:H65.00|UMLS:C0155415|ICD9:381.01|DOID:11557|SCTID:194240006|COHD:375827|ICD10:H65.0																		owl:Class
MONDO:0002738	biolink:NamedThing	acute transudative otitis media	Acute form of non-suppurative otitis media.	mondoexuq1wtf	acute otitis media with effusion|acute transudative otitis media|acute nonsuppurative otitis media|acute non-suppurative otitis media|non-suppurative otitis media, acute|acute secretory otitis media											ICD9:381.0|COHD:374948|DOID:3697|UMLS:C0271432|UMLS:C2939185|ICD9:381.00|SCTID:359609001																		owl:Class
MONDO:0012590	biolink:NamedThing	XFE progeroid syndrome	A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.	mondoexuq1wtf	XPF-ERCC1 progeroid syndrome|XFE progeroid syndrome|XFEPS											GARD:0010628|OMIM:610965|MESH:C567043|DOID:0060590|UMLS:C1970416														https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome				owl:Class
MONDO:0007876	biolink:NamedThing	laryngeal abductor paralysis		mondoexuq1wtf	Labd|laryngeal abductor paralysis|vocal cord dysfunction familial|vocal cord dysfunction, familial|familial vocal cord dysfunction|Gerhardt syndrome					Autosomal dominant based on information from Joanna.						GARD:0005509|UMLS:CN202762|Orphanet:2808|SCTID:232442001|ICD10:J38.0|ICD9:748.3|OMIM:150260																		owl:Class
MONDO:0010639	biolink:NamedThing	laryngeal abductor paralysis-intellectual disability syndrome	Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.	mondoexuq1wtf	Plott syndrome|laryngeal abductor paralysis|vocal cord dysfunction, familial					X linked version based on information from Joanna.						ICD10:J38.0|UMLS:CN201604|OMIM:308850|SCTID:724178000|Orphanet:2375																		owl:Class
MONDO:0004981	biolink:NamedThing	atrial fibrillation	A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)	mondoexuq1wtf	AF|A-fib|atrial fibrillation (disease)|AFib|atrial fibrillation		atrial fibrillation (disease)									UMLS:C0004238|COHD:313217|ICD10:I48|NCIT:C50466|DOID:0060224|ICD9:427.31|HP:0005110|SCTID:49436004|EFO:0000275																		owl:Class
MONDO:0012655	biolink:NamedThing	myoclonic epilepsy, juvenile, susceptibility to, 4		mondoexuq1wtf	EJM4|myoclonic epilepsy, juvenile, susceptibility to, 4											UMLS:C1969656|DOID:0111327|OMIM:611364																		owl:Class
MONDO:0009267	biolink:NamedThing	Gaucher disease type III	Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.	mondoexuq1wtf	Gaucher disease, juvenile and adult, cerebral|Gaucher disease, Subacute neuronopathic type|cerebral juvenile and adult form of Gaucher disease|Gaucher disease, type 3B|Gaucher disease, subacute neuronopathic type|Gaucher disease, chronic neuronopathic type|Gaucher disease, Norrbottnian type|Gd 3|Gaucher disease, type III|Gaucher disease, type 3A|GD III|chronic neuronopathic Gaucher disease|Gaucher disease, type 3|Gaucher's disease type III|Gaucher disease type 3											GARD:0002443|DOID:0110959|OMIM:231000|ICD10:E75.2|Orphanet:77261|SCTID:5963005																		owl:Class
MONDO:0007694	biolink:NamedThing	hairy nose tip		mondoexuq1wtf	HNT|hairy nose tip											MESH:C535619|GARD:0008465|OMIM:139630														https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip				owl:Class
MONDO:0012479	biolink:NamedThing	congenital malabsorptive diarrhea 4	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.	mondoexuq1wtf	congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|DIAR4|enteric anendocrinosis|diarrhea 4, malabsorptive, congenital|congenital diarrhea caused by mutation in NEUROG3|congenital malabsorptive diarrhea type 4|NEUROG3 congenital diarrhea											MESH:C563673|DOID:0060779|OMIM:610370|Orphanet:83620|UMLS:C1835888|ICD10:P78.3|SCTID:722392003																		owl:Class
MONDO:0000824	biolink:NamedThing	congenital diarrhea		mondoexuq1wtf	diarrhea, congenital											OMIMPS:214700|UMLS:CN232319|DOID:0060774|DC:0000503																		owl:Class
MONDO:0018461	biolink:NamedThing	Angelman syndrome due to a point mutation		mondoexuq1wtf												UMLS:CN237441|ICD10:Q93.5|Orphanet:411511																		owl:Class
MONDO:0007113	biolink:NamedThing	Angelman syndrome	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	mondoexuq1wtf	Angelman syndrome chromosome region|AS|happy puppet syndrome, formerly|Angelman syndrome|happy puppet syndrome|happy puppet syndrome (formerly)|puppetlike syndrome											MedDRA:10049004|Orphanet:72|ICD9:759.89|NCIT:C75462|OMIM:105830|ICD10:Q93.5|GARD:0005810|SCTID:76880004|UMLS:C0162635|ICD10:Q93.51|DOID:1932|MESH:C531619|MESH:D017204																		owl:Class
MONDO:0005817	biolink:NamedThing	Kluver-Bucy syndrome	Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.	mondoexuq1wtf	Kluver Bucy syndrome|KLuever-Bucy syndrome|temporal lobectomy behavior syndrome|post-encephalitic Kluver Bucy syndrome (type)|Klver-Bucy syndrome|KLüver-Bucy syndrome|syndrome, Kluver-Bucy|bilateral temporal lobe disorder|memory loss, extreme sexual behavior, placidity, and visual distractibility|post-traumatic Kluver Bucy syndrome (type)										MONDO:0015527	DOID:2510|MESH:D020232|Orphanet:157823|MedDRA:10066431|SCTID:10651001|EFO:0007335|GARD:0006840|NCIT:C84802														https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome				owl:Class
MONDO:0013951	biolink:NamedThing	peroxisome biogenesis disorder 12A (Zellweger)		mondoexuq1wtf	Cgj|peroxisome biogenesis disorder, complementation group 14|peroxisome biogenesis disorder 12A (Zellweger)|peroxisome biogenesis disorder, complementation group J|PBD12A|Cg14											UMLS:C3554002|DOID:0080486|OMIM:614886														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100270	biolink:NamedThing	peroxisome biogenesis disorder due to PEX19 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.	mondoexuq1wtf	PEX19 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX19 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0000781	biolink:NamedThing	cherry allergy	A fruit allergy triggered by Prunus avium plant fruit food product.	mondoexuq1wtf	Prunus avium fruit allergy											DOID:0060506																		owl:Class
MONDO:0000778	biolink:NamedThing	fruit allergy	A food allergy triggered by a plant fruit product.	mondoexuq1wtf												DOID:0060503																		owl:Class
MONDO:0019084	biolink:NamedThing	radiation proctitis	Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.	mondoexuq1wtf												Orphanet:70475|SCTID:235760009|MedDRA:10037766|ICD10:K62.7|ICD9:569.49																		owl:Class
MONDO:0005538	biolink:NamedThing	proctitis	An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.	mondoexuq1wtf	inflammation of anus|anus inflammation|rectitis											ICD10:K62.89|DOID:3127|ICD9:569.49|UMLS:C0033246|NCIT:C38011|MESH:D011349|EFO:0005628|SCTID:3951002																		owl:Class
MONDO:0044986	biolink:NamedThing	lymphoid system disease	A disease or disorder that involves the lymphoid system.	mondoexuq1wtf	lymphoid system disease|disease of lymphoid system|lymphoid system disease or disorder|disease or disorder of lymphoid system|disorder of lymphoid system											SCTID:111590001																		owl:Class
MONDO:0043370	biolink:NamedThing	secondary adrenal insufficiency	A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.	mondoexuq1wtf	central adrenal insufficiency|central Hypoadrenalism|secondary hypocortisolism|secondary adrenal insufficiency|secondary adrenocortical insufficiency|hypocortisolism secondary to another disorder											GARD:0012735|NCIT:C62602|UMLS:C0271738|UMLS:C0948387|SCTID:16685009																		owl:Class
MONDO:0000004	biolink:NamedThing	adrenocortical insufficiency	An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).	mondoexuq1wtf	adrenal gland insufficiency|adrenal cortical hypofunction|adrenal insufficiency|adrenal cortical insufficiency|adrenocortical insufficiency|hypocortisolism|corticoadrenal insufficiency|hypocortisolemia											DC:0000011|DOID:10493|GARD:0006722|ICD9:255.4|ICD9:255.41|SCTID:386584007|NCIT:C26691|UMLS:C0405580|MESH:D000309										hypoadrenalism								owl:Class
MONDO:0001033	biolink:NamedThing	mycotic corneal ulcer		mondoexuq1wtf												ICD10:H16.06|DOID:10440|ICD9:370.05|SCTID:397977001|UMLS:C0155071																		owl:Class
MONDO:0004577	biolink:NamedThing	corneal ulcer	Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.	mondoexuq1wtf	ulcer disease of cornea|Ulcer, corneal|cornea ulcer disease											DOID:8463|SCTID:91514001|HP:0200020|ICD10:H16.0|UMLS:C0010043|ICD9:370.0|MESH:D003320|COHD:373202|ICD10:H16.00|ICD9:370.00|NCIT:C50515																		owl:Class
MONDO:0013101	biolink:NamedThing	basal cell carcinoma, susceptibility to, 2		mondoexuq1wtf	BCC2|basal cell carcinoma, susceptibility to, 2											OMIM:613058|UMLS:C2751606																		owl:Class
MONDO:0007804	biolink:NamedThing	Pallister-hall syndrome	Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.	mondoexuq1wtf	hypothalamic hamartoblastoma syndrome|Pallister-Hall syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|PHS|Pallister Hall syndrome|ano-cerebro-digital syndrome											Orphanet:672|ICD10:D33.0|OMIM:146510|ICD9:759.89|DOID:9248|UMLS:C0265220|MESH:D054975|GARD:0007305|SCTID:56677004|NCIT:C84987														https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome				owl:Class
MONDO:0008230	biolink:NamedThing	peroxidase, salivary		mondoexuq1wtf	peroxidase, salivary|SAPX											OMIM:170990																		owl:Class
MONDO:0016661	biolink:NamedThing	infantile onset panniculitis with uveitis and systemic granulomatosis		mondoexuq1wtf												ICD10:M08.8|Orphanet:251304																		owl:Class
MONDO:0003872	biolink:NamedThing	ovarian papillary cystadenoma	A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.	mondoexuq1wtf	ovarian papillary cystadenoma											NCIT:C7278|UMLS:C1335175|DOID:6405																		owl:Class
MONDO:0014814	biolink:NamedThing	advanced sleep phase syndrome 3	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.	mondoexuq1wtf	advanced sleep phase syndrome, familial, type 3|advanced sleep phase syndrome, familial, 3|PER3 advanced sleep phase syndrome|familial advanced sleep phase syndrome 3|FASPS3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome type 3											DOID:0110013|UMLS:C4225169|OMIM:616882																		owl:Class
MONDO:0015609	biolink:NamedThing	advanced sleep phase syndrome	Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.	mondoexuq1wtf	familial advanced sleep-phase syndrome|familial advanced sleep phase syndrome|FASPS|advanced sleep phase syndrome, familial											SCTID:715829003|OMIMPS:604348|Orphanet:164736|DOID:0050628|GARD:0009242|ICD10:G47.2																		owl:Class
MONDO:0002517	biolink:NamedThing	tenosynovitis of foot and ankle		mondoexuq1wtf												ICD9:727.06|DOID:312																		owl:Class
MONDO:0004855	biolink:NamedThing	tenosynovitis	Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.	mondoexuq1wtf	Inflammation of tendon sheath|tendon sheath inflammation|inflammation of tendon sheath|Tenosynovitides											MESH:D013717|UMLS:C0039520|SCTID:67801009|DOID:970|EFO:1001435																		owl:Class
MONDO:0011183	biolink:NamedThing	Paget disease of bone 2, early-onset		mondoexuq1wtf	PDB2|Paget disease of bone 2, early-onset											OMIM:602080|UMLS:C4085251																		owl:Class
MONDO:0005382	biolink:NamedThing	bone Paget disease	A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.	mondoexuq1wtf	bone Paget's disease|Paget's disease of bone|osseous Paget's disease|bone Paget disease|Paget disease of bone|familial Paget's disease of bone|Paget's bone disease|Paget's disease of the bone|Paget's disease|osteitis deformans|Pagets disease (bone)											NCIT:C3292|DOID:5408|OMIMPS:167250|EFO:0004261|SCTID:2089002|ICD10:M88|UMLS:C0029401																		owl:Class
MONDO:0002379	biolink:NamedThing	cystic teratoma		mondoexuq1wtf	cystic teratoma											DOID:2660|UMLS:C1368903|NCIT:C9014																		owl:Class
MONDO:0002601	biolink:NamedThing	teratoma	A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	mondoexuq1wtf	teratoma											NCIT:C3403|ICDO:9080/1|MESH:D013724|DOID:3307|ONCOTREE:TT|SCTID:36591000119102																		owl:Class
MONDO:0007378	biolink:NamedThing	posterior polymorphous corneal dystrophy 1	A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.	mondoexuq1wtf	posterior polymorphous corneal dystrophy type 1|posterior polymorphous corneal dystrophy|Ppcd1|Ched1|corneal dystrophy, posterior polymorphous, type 1|corneal dystrophy, POSTERIOR polymorphous, 1|corneal endothelial dystrophy 1, autosomal dominant|corneal dystrophy, hereditary polymorphous posterior|PPCD1|corneal endothelial dystrophy 1, autosomal dominant, formerly											ICD9:371.58|OMIM:122000|DOID:0110855|ICD10:H18.50|UMLS:CN029625|SCTID:29504002																		owl:Class
MONDO:0020364	biolink:NamedThing	posterior polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.	mondoexuq1wtf	PPCD|hereditary polymorphus posterior corneal dystrophy|posterior polymorphous dystrophy|corneal dystrophy, posterior polymorphous|Schlichting dystrophy											UMLS:CN239252|ICD10:H18.5|Orphanet:98973|OMIMPS:122000|DOID:0060457																		owl:Class
MONDO:0014386	biolink:NamedThing	platelet-type bleeding disorder 18	Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.	mondoexuq1wtf	bleeding disorder, platelet-type, 18|bleeding disorder due to CalDAG-GEFI deficiency|RASGRP2 inherited bleeding disorder, platelet-type|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|BDPLT18											Orphanet:420566|ICD10:D69.1|OMIM:615888|UMLS:C4014584|DOID:0111051																		owl:Class
MONDO:0000009	biolink:NamedThing	inherited bleeding disorder, platelet-type		mondoexuq1wtf	blood platelet disease|bleeding disorder, platelet-type|platelet disorder|thrombocytopathy											DC:0000057|UMLS:C0005818|OMIMPS:231200|DOID:2218																		owl:Class
MONDO:0016464	biolink:NamedThing	insulin-resistance syndrome type B	Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.	mondoexuq1wtf	insulin-resistance type B											Orphanet:2298|ICD10:E13|GARD:0003009|UMLS:C0342337														https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b				owl:Class
MONDO:0005015	biolink:NamedThing	diabetes mellitus	A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.	mondoexuq1wtf	DM|diabetes mellitus (disease)|diabetes mellitus|diabetes		diabetes mellitus (disease)									UMLS:C0011847|SCTID:73211009|COHD:201820|ICD9:250|HP:0000819|ICD10:E10.E14|UMLS:C0011849|NCIT:C2985|EFO:0000400|DOID:9351|ICD10:E08-E13|MESH:D003920|ICD10:E11																		owl:Class
MONDO:0016468	biolink:NamedThing	toxin-mediated infectious botulism	Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).	mondoexuq1wtf	toxin-mediated infective botulism											ICD10:A05.1|Orphanet:230800																		owl:Class
MONDO:0005498	biolink:NamedThing	botulism	A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.	mondoexuq1wtf	botulism poisoning|foodborne botulism (subtype)|foodborne botulism|infant botulism (subtype)|wound botulism (subtype)|intoxication with Clostridium botulinum toxin|infection due to Clostridium botulinum|botulism|food poisoning due to Clostridium botulinum											CSP:5000-0060|UMLS:C0006057|MedDRA:10006041|EFO:0005542|MESH:D001906|ICD10:A05.1|NCIT:C84599|GARD:0000943|Orphanet:1267|DOID:11976|SCTID:398565003														https://rarediseases.info.nih.gov/diseases/943/botulism				owl:Class
MONDO:0012711	biolink:NamedThing	peripapillary atrophy, beta type		mondoexuq1wtf	PPAB|peripapillary chorioretinal atrophy, Beta type|Beta-PPA|peripapillary atrophy, BETA type|peripapillary atrophy, beta type											OMIM:611650|UMLS:C1968838|MESH:C566898																		owl:Class
MONDO:0003248	biolink:NamedThing	adult pineal parenchymal tumor	A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.	mondoexuq1wtf	adult pineal parenchymal cell neoplasm|adult pineal gland tumor|adult pineal parenchymal tumor|parenchymal tumor of adult pineal gland|adult pineal parenchymal neoplasm|parenchymal neoplasm of the adult pineal gland|adult pineal gland neoplasm|parenchymal tumor of the adult pineal gland|adult pineal parenchymal cell tumor|pineal parenchymal cell tumor|parenchymal neoplasm of adult pineal gland|pineal parenchymal cell neoplasm of adults											UMLS:C0280794|DOID:5031|NCIT:C8273																		owl:Class
MONDO:0024890	biolink:NamedThing	pineal parenchymal cell neoplasm	A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)	mondoexuq1wtf	pineal parenchymal cell neoplasm|tumor of the pineal gland|Pineocytic tumor|pineal gland neoplasm|pineal gland tumor|neoplasm of pineal gland|neoplasm of the pineal gland|pineal parenchymal tumor|pineal parenchymal cell tumor|Pineocytic neoplasm|tumor of pineal gland|pineal parenchymal neoplasm											UMLS:C0031941|NCIT:C6965|ICDO:9360/1																		owl:Class
MONDO:0006549	biolink:NamedThing	fibroepithelial polyp of the anus	A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.	mondoexuq1wtf	anus skin tag|anal fibrous polyp|fibrous polyp of anus|fibrous polyp of the anus|anal tag|skin tag of anus|fibroepithelial polyp of anus|anal fibroepithelial polyp											NCIT:C4435|SCTID:195469007|DOID:8170|EFO:1000699																		owl:Class
MONDO:0060766	biolink:NamedThing	anal polyp	A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.	mondoexuq1wtf	polyp of anus|anal polyp|polyp of the anus											UMLS:C0267573|SCTID:88580009|NCIT:C3957																		owl:Class
MONDO:0015729	biolink:NamedThing	mosaic trisomy 16	Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	mondoexuq1wtf	Mosaic trisomy type 16|trisomy 16 mosaicism|Mosaic trisomy chromosome 16											MESH:C538041|ICD10:Q92.1|Orphanet:1708|SCTID:764621006																		owl:Class
MONDO:0022180	biolink:NamedThing	chromosome 16 trisomy		mondoexuq1wtf	trisomy chromosome 16|trisomy 16|mosaic trisomy 16											NCIT:C37866|GARD:0007060														https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy				owl:Class
MONDO:0002122	biolink:NamedThing	neuritis	A neuropathy arising from inflammation of one or more nerves.	mondoexuq1wtf	nerve inflammation|peripheral neuritis											ICD9:729.2|SCTID:128192007|COHD:4027396|DOID:1803|UMLS:C0027813|NCIT:C116381|MESH:D009443|SCTID:84299009																		owl:Class
MONDO:0004519	biolink:NamedThing	synovial angioma	A rare hemangioma arising from synovium lining surfaces.	mondoexuq1wtf	angioma of synovium|hemangioma of synovium|hemangioma of layer of synovial tissue|layer of synovial tissue hemangioma|synovial hemangioma|angioma of the synovium|hemangioma of the synovium											NCIT:C6525|UMLS:C1336546|DOID:8274																		owl:Class
MONDO:0012932	biolink:NamedThing	myopia 16, autosomal dominant		mondoexuq1wtf	myopia 16, autosomal dominant|MYP16											UMLS:C2675523|MESH:C567259|OMIM:612554																		owl:Class
MONDO:0001384	biolink:NamedThing	myopia	The condition in which the individual does not see far distances clearly.	mondoexuq1wtf	near vision|myopia|myopia (disease)|short-sightedness|near-sightedness		myopia (disease)									ICD9:367.1|DOID:11830|HP:0000545|COHD:379805|UMLS:C0027092|MESH:D009216|SCTID:57190000|ICD10:H52.1|OMIMPS:160700|EFO:0003927																		owl:Class
MONDO:0013792	biolink:NamedThing	intracerebral hemorrhage	Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.	mondoexuq1wtf	hemorrhage, intracerebral, susceptibility to|stroke, hemorrhagic, susceptibility to|ich					Editor note: consider separate subclass for OMIM ID						MESH:D002543|OMIM:614519|SCTID:274100004|EFO:0005669|ICD9:431																		owl:Class
MONDO:0005049	biolink:NamedThing	intracranial hemorrhage	Bleeding within the cranium.	mondoexuq1wtf						Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207						MESH:D020300|ICD9:432.9|EFO:0000551|UMLS:CN236663																		owl:Class
MONDO:0005417	biolink:NamedThing	wet macular degeneration	A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.	mondoexuq1wtf	wet AMD|Kuhnt-Junius degeneration|exudative senile macular degeneration of retina|wet age related macular degeneration|wet senile macular retinal degeneration|neovascular age-related macular degeneration|Senile macular degeneration, wet|wet ARMD											EFO:0004683|ICD9:362.52|SCTID:414173003|ICD10:H35.32|UMLS:C0271084|UMLS:C2237660|DOID:10873|MESH:D057135																		owl:Class
MONDO:0019087	biolink:NamedThing	cholangiocarcinoma	A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	mondoexuq1wtf	cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|cholangiocarcinoma|adult primary cholangiocellular carcinoma|CC|Cholangiocar.- intra/extrahepatic|cholangiocarcinoma, malignant|bile duct cancer|intrahepatic bile duct cancer (cholangiocarcinoma)|cholangiosarcoma|CCA|Cholangiocellular carcinoma|adult primary cholangiocarcinoma											ICD10:C24.0|UMLS:C0206698|EFO:0005221|ONCOTREE:CHOL|MedDRA:10004593|Orphanet:70567|ICD10:C24.9|NCIT:C4436|SCTID:312104005|MedDRA:10008593|DOID:4947|MESH:D018281|GARD:0009304|ICD10:C24.8|ICD10:C22.1|ICDO:8160/3																		owl:Class
MONDO:0008036	biolink:NamedThing	myasthenia, limb-girdle, autoimmune		mondoexuq1wtf	myasthenia, limb-girdle, autoimmune|myasthenia gravis, limb-girdle											MESH:C563552|UMLS:C1834635|GARD:0008575|OMIM:159400																		owl:Class
MONDO:0009688	biolink:NamedThing	myasthenia gravis	Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.	mondoexuq1wtf	autoimmune myasthenia gravis|acquired myasthenia|MG|myasthenia gravis											Orphanet:589|GARD:0007122|UMLS:C0026896|ICD9:358.00|MedDRA:10028417|ICD10:G70.0|MESH:D009157|ICD10:G70.00|EFO:0004991|SCTID:91637004|NCIT:C60989|COHD:76685|OMIM:254200|DOID:437|ICD9:358.0														https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis				owl:Class
MONDO:0022983	biolink:NamedThing	Dieterich disease		mondoexuq1wtf	avascular necrosis of the metacarpal head|Dieterich's disease|Dieterich disease											UMLS:C2931124|GARD:0000204|MESH:C536172														https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease				owl:Class
MONDO:0009238	biolink:NamedThing	hereditary folate malabsorption	Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.	mondoexuq1wtf	congenital defect of folate absorption|folate malabsorption, hereditary|congenital folate malabsorption|folic acid transport defect											UMLS:C0342705|DOID:0111678|ICD10:D52.8|GARD:0012983|SCTID:62578003|OMIM:229050|MESH:C562799|Orphanet:90045														https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption				owl:Class
MONDO:0006978	biolink:NamedThing	splenic infarction	Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)	mondoexuq1wtf	infarct of the spleen|splenic infarcts|splenic infarct|splenic infarction											COHD:4044745|DOID:2533|SCTID:22996003|EFO:1001190|ICD9:289.59|GARD:0009973|MedDRA:10041648|UMLS:C0037998|MESH:D013159|ICD10:D73.5																		owl:Class
MONDO:0002332	biolink:NamedThing	splenic disease	A disease involving the spleen.	mondoexuq1wtf	splenic disorder|disorder of spleen|disease of spleen|Dyssplenism|spleen disease or disorder|splenic disease|spleen disease|spleen disorder|disease or disorder of spleen											ICD9:289.50|ICD10:D73|NCIT:C35823|UMLS:C0037997|MESH:D013158|ICD10:D73.9|DOID:2529|SCTID:51244008|EFO:0009002																		owl:Class
MONDO:0007287	biolink:NamedThing	cataract 41	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.	mondoexuq1wtf	early-onset non-syndromic cataract caused by mutation in WFS1|cataract 41|CTRCT41|cataract type 41|congenital nuclear type cataract 41|WFS1 early-onset non-syndromic cataract|cataract 41, congenital nuclear type											UMLS:C3805412|OMIM:116400|ICD10:Q12.0|DOID:0110241																		owl:Class
MONDO:0020376	biolink:NamedThing	early-onset nuclear cataract		mondoexuq1wtf												UMLS:CN207247|MedDRA:10007759|MedDRA:10057735|Orphanet:98991|MESH:C563333|ICD10:Q12.0																		owl:Class
MONDO:0000200	biolink:NamedThing	Zimmermann-Laband syndrome	Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.	mondoexuq1wtf	ZLS1|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|Laband-Zimmermann syndrome|Laband syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Zimmermann-Laband syndrome 1|ZLS|Zimmermann-Laband syndrome type 1|Zimmerman Laband syndrome											GARD:0000385|DC:0000708|UMLS:C0796013|OMIMPS:135500|MESH:C536725|Orphanet:3473|ICD9:759.89|ICD10:Q87.8|SCTID:699447001																		owl:Class
MONDO:0018895	biolink:NamedThing	Plummer-Vinson syndrome	Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.	mondoexuq1wtf	Kelly's syndrome|Paterson’s syndrome|Paterson-Kelly syndrome|Paterson-Brown-Kelly syndrome|dysphagia sideropenica|Paterson's syndrome|Plummer Vinson syndrome|Sideropenic dysphagia|Kelly-Paterson syndrome											GARD:0008259|MESH:D011004|ICD9:280.8|ICD10:D50.1|Orphanet:54028|MedDRA:10040664|UMLS:C0032249|NCIT:C85016|SCTID:80126007														https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome				owl:Class
MONDO:0016625	biolink:NamedThing	acquired deficiency anemia	An instance of deficiency anemia that is acquired during the lifetime of the individual.	mondoexuq1wtf	rare acquired deficiency anemia											UMLS:CN226976|Orphanet:248302														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0009053	biolink:NamedThing	ALDH18A1-related de Barsy syndrome	ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.	mondoexuq1wtf	De Barsy syndrome A|De Barsy syndrome a|cutis laxa, autosomal recessive, type IIIA|cutis laxa, corneal clouding, and mental retardation|ARCL3A|autosomal recessive cutis laxa type IIIA|P5CS deficiency|progeroid syndrome of De Barsy|neurocutaneous syndrome, Bicknell type|Delta-1-pyrroline 5-carboxylate synthetase deficiency|cutis laxa, corneal clouding, and intellectual disability|cutis laxa, autosomal recessive, type 3A											DOID:0070132|Orphanet:35664|ICD9:371.89|SCTID:59252009|ICD10:Q82.8|ICD10:Q87.8|OMIM:219150																		owl:Class
MONDO:0100126	biolink:NamedThing	P5CS deficiency	An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.	mondoexuq1wtf	delta1-pyrroline-5-carboxylate synthetase deficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0017390	biolink:NamedThing	methylmalonic acidemia without homocystinuria	Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.	mondoexuq1wtf	methylmalonic aciduria without homocystinuria											ICD10:E71.1|Orphanet:293355																		owl:Class
MONDO:0019215	biolink:NamedThing	classic organic aciduria		mondoexuq1wtf												Orphanet:79163																		owl:Class
MONDO:0002716	biolink:NamedThing	childhood spinal cord tumor	A benign or malignant neoplasm affecting the spinal cord during childhood.	mondoexuq1wtf	childhood spinal cord neoplasm|spinal cord neoplasm of childhood|pediatric spinal cord neoplasm											UMLS:C1134515|NCIT:C9234|DOID:3637																		owl:Class
MONDO:0021079	biolink:NamedThing	childhood neoplasm	A benign or malignant neoplasm arising during childhood.	mondoexuq1wtf	childhood neoplasm (disease)|neoplasm (disease) of childhood|childhood tumor|childhood neoplasm|pediatric neoplasm (disease)|pediatric tumor|pediatric neoplasm											NCIT:C6283																		owl:Class
MONDO:0001922	biolink:NamedThing	pyoureter	An abscess that is located in the ureter.	mondoexuq1wtf	ureter abscess											NCIT:C35666|SCTID:85884009|DOID:1425|ICD9:593.89|UMLS:C0034223																		owl:Class
MONDO:0005227	biolink:NamedThing	abscess	An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.	mondoexuq1wtf	abscess (disease)		abscess (disease)									SCTID:128477000|COHD:444202|MESH:D000038|ICD9:682.8|Wikipedia:Abscess|NCIT:C26686|ICD9:682.9|EFO:0003030|UMLS:C0000833																		owl:Class
MONDO:0005690	biolink:NamedThing	Caplan syndrome	A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.	mondoexuq1wtf	Caplans syndrome|Caplan's syndrome|Caplan's disease|Caplan syndrome|rheumatoid pneumoconiosis											MESH:D002205|EFO:0007192|UMLS:C0006915|SCTID:398640008|DOID:10326																		owl:Class
MONDO:0015926	biolink:NamedThing	pneumoconiosis	An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.	mondoexuq1wtf	coal worker's pneumoconiosis|Black lung disease											MedDRA:10035653|UMLS:C0032273|ICD10:J64|ICD9:505|Orphanet:182098|MESH:D011009|NCIT:C26861|SCTID:40122008|GARD:0008356|COHD:259044|DOID:10316																		owl:Class
MONDO:0014398	biolink:NamedThing	combined oxidative phosphorylation defect type 21	Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	mondoexuq1wtf	combined oxidative phosphorylation deficiency 21|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2|COXPD21|TARS2 combined oxidative phosphorylation deficiency											ICD10:E88.8|UMLS:C4014668|SCTID:763211004|EFO:0009032|Orphanet:420733|DOID:0111465|OMIM:615918																		owl:Class
MONDO:0004642	biolink:NamedThing	tonsillar pillar cancer	A cancer that involves the tonsillar pillar.	mondoexuq1wtf	malignant tumor of tonsillar pillar|malignant tumour of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior|malignant neoplasm of tonsillar pillar											DOID:8688|SCTID:187675005|ICD9:146.2|ICD10:C09.1|UMLS:C0153385																		owl:Class
MONDO:0005864	biolink:NamedThing	muscle cancer	A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.	mondoexuq1wtf	malignant muscle tumor|malignant neoplasm of the muscle|malignant tumor of the muscle|malignant muscle structure neoplasm|muscle structure cancer|cancer of muscle structure|malignant muscle neoplasm|myosarcoma|malignant tumor of muscle|malignant neoplasm of muscle structure|malignant neoplasm of muscle											EFO:0007384|ICD9:171.9|UMLS:C0027095|SCTID:363495004|NCIT:C4883|ICD10:C49|DOID:4045|ICDO:8895/3|UMLS:C0684743																		owl:Class
MONDO:0012278	biolink:NamedThing	supranuclear palsy, progressive, 2		mondoexuq1wtf	supranuclear palsy, progressive, 2|PSNP2											MESH:C563717|OMIM:609454|UMLS:C1836148																		owl:Class
MONDO:0019037	biolink:NamedThing	progressive supranuclear palsy	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.	mondoexuq1wtf	familial progressive supranuclear palsy (type)|Steele-Richardson-Olszewski syndrome|progressive supranuclear ophthalmoplegia|supranuclear palsy, progressive|PSP syndrome											SCTID:28978003|DOID:678|UMLS:CN205522|NCIT:C85028|MedDRA:10036813|UMLS:C0038868|GARD:0007471|MESH:D013494|Orphanet:683|ICD9:333.0|ICD10:G23.1																		owl:Class
MONDO:0004903	biolink:NamedThing	deep keratitis		mondoexuq1wtf												DOID:9858|UMLS:C2960633|ICD9:370.5|SCTID:445741003|ICD9:370.59|ICD10:H16.3																		owl:Class
MONDO:0016107	biolink:NamedThing	myotonic dystrophy	An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.	mondoexuq1wtf	myotonia atrophica|inherited myotonic dystrophy|myotonic disease|myotonia dystrophica											ICD10:G71.1|DC:0000127|SCTID:240104008|NCIT:C84914|OMIMPS:160900|DOID:450|Orphanet:206647|MedDRA:10068871|MESH:D009223|GARD:0010419|UMLS:C0027126|ICD9:359.2																		owl:Class
MONDO:0010708	biolink:NamedThing	Pallister-W syndrome	W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.	mondoexuq1wtf	median cleft upper lip, mental retardation and pugilistic facies|median cleft upper lip, intellectual disability and pugilistic facies|Pallister-W syndrome|Pallister W syndrome|W syndrome											GARD:0000358|ICD10:Q87.8|OMIM:311450|Orphanet:2804|MESH:C538106|SCTID:719020006|UMLS:C0796110																		owl:Class
MONDO:0020107	biolink:NamedThing	hemolytic anemia due to an erythrocyte nucleotide metabolism disorder		mondoexuq1wtf	hemolytic anemia due to an erythroenzymopathy											Orphanet:98374|ICD10:D55.3|UMLS:CN227784																		owl:Class
MONDO:0003664	biolink:NamedThing	hemolytic anemia	Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.	mondoexuq1wtf	anemia hemolytic|hemolytic anemia|anemia, hemolytic											EFO:0005558|NCIT:C34376|SCTID:61261009|DOID:583|ICD10:D55.D59|MESH:D000743|ICD10:D55-D59																		owl:Class
MONDO:0011362	biolink:NamedThing	myopathy, myofibrillar, 9, with early respiratory failure		mondoexuq1wtf	HIBM-ERF|hereditary proximal myopathy with early respiratory failure|myopathy, proximal, with early respiratory muscle involvement|Edström myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|HMERF|hereditary inclusion body myopathy with early respiratory failure|Edstrom myopathy|distal myopathy with early respiratory muscle involvement|ADMERF|myofibrillar myopathy with early respiratory failure|HMERF-ERF											GARD:0012591|MESH:C566343|Orphanet:34521|UMLS:C1863599|SCTID:702373006|ICD10:G71.0|DOID:0111188|OMIM:603689|SCTID:733490006|MESH:C564377|UMLS:C4518808|Orphanet:178464|OMIM:607569|UMLS:C1843633														https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure				owl:Class
MONDO:0100175	biolink:NamedThing	TTN-related myopathy	A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.	mondoexuq1wtf	congenital myopathy related to TTN|TTN myopathy					In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy.		http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0032780	biolink:NamedThing	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities		mondoexuq1wtf	HIDEA|HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES											OMIM:618493																		owl:Class
MONDO:0017670	biolink:NamedThing	autosomal dominant diffuse mutilating palmoplantar keratoderma		mondoexuq1wtf	autosomal dominant diffuse mutilating palmoplantar hyperkeratosis											UMLS:CN229100|ICD10:Q82.8|Orphanet:307773																		owl:Class
MONDO:0019719	biolink:NamedThing	congenital anomaly of kidney and urinary tract	A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.	mondoexuq1wtf	renal or urinary tract malformation|congenital anomalies of the kidney and urinary tract|congenital anomalies of kidney and urinary tract|CAKUT											Orphanet:93545|UMLS:C1968949|OMIMPS:610805|MESH:C566906|DOID:0080205																		owl:Class
MONDO:0004315	biolink:NamedThing	cholangiolocellular carcinoma	An intrahepatic cholangiocarcinoma that arises from the canals of Hering.	mondoexuq1wtf	cholangiocarcinoma of intralobular bile duct|CLC|cholangiolocellular carcinoma|intralobular bile duct cholangiocarcinoma											UMLS:C1516490|DOID:7642|NCIT:C41617																		owl:Class
MONDO:0002176	biolink:NamedThing	connective tissue cancer	A malignant neoplasm involving the connective tissue	mondoexuq1wtf	malignant connective tissue neoplasm|cancer of connective tissue|connective tissue cancer|neoplasm of connective tissues|connective tissue neoplasm|malignant neoplasm of connective tissue											DOID:201														https://github.com/monarch-initiative/mondo/issues/3593				owl:Class
MONDO:0008167	biolink:NamedThing	dermoid cyst of ovary	A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.	mondoexuq1wtf	ovarian dermoid cyst|dermoid cyst of ovary|dermoid cyst of the ovary|teratoma, ovarian|ovary dermoid cyst|dermoid cyst (& [ovarian])|dermoid cyst, ovarian											OMIM:166950|MESH:C562731|UMLS:C0237020|NCIT:C3856|DOID:5117																		owl:Class
MONDO:0003281	biolink:NamedThing	ovarian cystic teratoma	A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.	mondoexuq1wtf	ovary cystic teratoma											UMLS:C1335155|NCIT:C7283|DOID:5118																		owl:Class
MONDO:0004628	biolink:NamedThing	gastroduodenitis		mondoexuq1wtf	peptic ulcer gastroduodenitis|gastritis and duodenitis|gastroduodenitis											SCTID:196731005|ICD9:535.50|ICD9:535.4|DOID:8644|UMLS:C0267166																		owl:Class
MONDO:0024415	biolink:NamedThing	hemorrhagic duodenitis		mondoexuq1wtf	multiple duodenal erosions|hemorrhagic duodenitis|erosive duodenitis											ICD9:535.61|SCTID:95531001|UMLS:C0341245																		owl:Class
MONDO:0008208	biolink:NamedThing	patella, familial recurrent dislocation of		mondoexuq1wtf	patella, familial recurrent dislocation of											UMLS:C1868575|MESH:C566816|OMIM:169000																		owl:Class
MONDO:0011731	biolink:NamedThing	glucose-galactose malabsorption	Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.	mondoexuq1wtf	glucose galactose malabsorption deficiency|carbohydrate intolerance of glucose galactose|SGLT1 deficiency|glucose/galactose malabsorption|GGM|Complex carbohydrate intolerance|monosaccharide malabsorption											OMIM:606824|ICD9:271.3|GARD:0006521|Orphanet:35710|SCTID:190749000|ICD10:E74.3|MESH:C562602|MedDRA:10066388														https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption				owl:Class
MONDO:0015178	biolink:NamedThing	congenital intestinal transport defect		mondoexuq1wtf												Orphanet:104003																		owl:Class
MONDO:0026724	biolink:NamedThing	Paganini-Miozzo syndrome		mondoexuq1wtf	Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|MRXSPM|PAGANINI-MIOZZO SYNDROME											OMIM:301025																		owl:Class
MONDO:0009241	biolink:NamedThing	fountain syndrome	Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	mondoexuq1wtf	intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|fountain syndrome|deafness-skeletal dysplasia-lip granuloma syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness, skeletal dysplasia, lip granuloma|deafness-skeletal dysplasia-coarse face with full lips syndrome											MESH:C537270|SCTID:720957007|ICD10:Q87.8|OMIM:229120|Orphanet:3219|GARD:0000064|UMLS:C0795944														https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome				owl:Class
MONDO:0016065	biolink:NamedThing	cleft palate-short stature-vertebral anomalies syndrome	Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome											UMLS:CN200784|GARD:0001392|ICD10:Q87.0|Orphanet:2015|SCTID:719466009														https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies				owl:Class
MONDO:0004490	biolink:NamedThing	gestational uterine corpus choriocarcinoma	A gestational choriocarcinoma that involves the body of uterus.	mondoexuq1wtf	body of uterus gestational choriocarcinoma|gestational choriocarcinoma of body of uterus											DOID:8187																		owl:Class
MONDO:0020550	biolink:NamedThing	gestational choriocarcinoma	Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.	mondoexuq1wtf	gestational choriocarcinoma|gestational chorionepithelioma|gestational choriocarcinoma (morphologic abnormality)|molar pregnancy with choriocarcinoma											SCTID:417570003|NCIT:C4646|ICD9:181|ICD10:C58|UMLS:C0349557|DOID:2025|Orphanet:99926																		owl:Class
MONDO:0006432	biolink:NamedThing	stromal predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.	mondoexuq1wtf	stromal predominant Wilms tumor|stromal predominant renal Wilm's tumor|stromal predominant kidney adenosarcoma|stromal predominant kidney Wilms' tumor|stromal predominant renal Wilms' tumor|stromal predominant renal adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant renal Wilms tumor|stromal predominant nephroblastoma											EFO:1000551|NCIT:C9148|DOID:5191|UMLS:C0279610																		owl:Class
MONDO:0007846	biolink:NamedThing	KBG syndrome	KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.	mondoexuq1wtf	KBGS|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|KBG syndrome|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies											MESH:C537015|ICD10:Q87.8|GARD:0000082|ICD9:759.89|OMIM:148050|UMLS:C0220687|SCTID:711156009|Orphanet:2332|DOID:14780														https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome				owl:Class
MONDO:0022675	biolink:NamedThing	cataract skeletal anomalies		mondoexuq1wtf												GARD:0001158														https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies				owl:Class
MONDO:0017736	biolink:NamedThing	disorder of sialic acid metabolism		mondoexuq1wtf												ICD10:E77.8|SCTID:238050009|UMLS:C0342851|ICD9:277.89|Orphanet:309319																		owl:Class
MONDO:0002561	biolink:NamedThing	lysosomal storage disease	A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.	mondoexuq1wtf	lysosome disorder|disorder of lysosomal enzyme|inborn lysosomal enzyme disorder|lysosomal disease|lysosomal disorder|lysosomal storage disorder|lysosome disease|lysosomal storage metabolism disorder|disorder of lysosomal enzymes|phospholipidosis											UMLS:C0085078|SCTID:23585005|MESH:D016464|UMLS:CN205533|NCIT:C61250|Orphanet:68366|DOID:3211																		owl:Class
MONDO:0020679	biolink:NamedThing	conductive hearing loss disorder	Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.	mondoexuq1wtf	conductive deafness|conductive hearing loss											NCIT:C27645|SCTID:44057004																		owl:Class
MONDO:0017368	biolink:NamedThing	systemic disease with skin involvement		mondoexuq1wtf												Orphanet:290836|UMLS:CN203041																		owl:Class
MONDO:0008762	biolink:NamedThing	autosomal recessive Alport syndrome	Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.	mondoexuq1wtf	Alport syndrome recessive type|Alport syndrome, autosomal recessive|Alport syndrome autosomal recessive|nephropathy and deafness											DOID:0110033|MedDRA:10001843|Orphanet:88919|ICD10:Q87.8|OMIM:203780|GARD:0000625|SCTID:717767009														https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome				owl:Class
MONDO:0022538	biolink:NamedThing	leukoplakia of gingiva	A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.	mondoexuq1wtf	Leukoplakia of Gingiva|leukoplakia of gingiva|gingival leukoplakia|Leukoplakia of gingiva|Gingival Leukoplakia											SCTID:32236000|ICD9:528.6|NCIT:C3881|UMLS:C0239737																		owl:Class
MONDO:0002021	biolink:NamedThing	gingival disease	A disease involving the gingiva.	mondoexuq1wtf	gingiva disease or disorder|gingiva disease|disorder of gingiva|disease or disorder of gingiva|disease of gingiva											SCTID:18718003|UMLS:C0017563|MESH:D005882|DOID:1483																		owl:Class
MONDO:0000232	biolink:NamedThing	Flinders island spotted fever	A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.	mondoexuq1wtf	FISF|Thai tick typhus											DOID:0050047|UMLS:C4505102																		owl:Class
MONDO:0001195	biolink:NamedThing	spotted fever	A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.	mondoexuq1wtf	spotted fever rickettsiosis|spotted fever rickettsiae disease|spotted fever Group rickettsiosis|spotted fevers|spotted fever|fevers, spotted|spotted fever Group Rickettsioses|spotted fever group rickettsial disease|fever, spotted											ICD10:A77|ICD9:082.0|GARD:0004998|ICD10:A77.3|ICD10:A77.0|Orphanet:102022|ICD10:A77.1|ICD10:A77.9|SCTID:186771002|ICD10:A77.2|DOID:11104|ICD10:A77.8|UMLS:C0038041|ICD9:083.8|MEDGEN:11567														https://rarediseases.info.nih.gov/diseases/4998/spotted-fever				owl:Class
MONDO:0004965	biolink:NamedThing	acinar cell carcinoma	A carcinoma that arises from epithelial cells of the acinar cell	mondoexuq1wtf	acinar cell carcinoma (morphologic abnormality)|carcinoma of acinar cell|acinar carcinoma|acinic cell tumor|acinic cell adenocarcinoma|carcinoma, acinar cell, malignant|acinar adenocarcinoma|acinar cell adenocarcinoma|acinar cell carcinoma|ACCC|acinic cell carcinoma											ONCOTREE:ACCC|DOID:3025|EFO:0000216|GARD:0008568|UMLS:C0206685|ICDO:8550/3|NCIT:C3768|MESH:D018267																		owl:Class
MONDO:0021199	biolink:NamedThing	disease by anatomical system	A disease that disrupts the functioning of an organ system.	mondoexuq1wtf	disorder of anatomical system|anatomical system disease|disease of anatomical system|disease of anatomical entity											ICD9:796.4|UMLS:C1285159|SCTID:362965005|DOID:7																		owl:Class
MONDO:0020676	biolink:NamedThing	disease of central nervous system or retinal vasculature		mondoexuq1wtf	retina/CNS vascular disease|central nervous system or retinal vascular disease					Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease																								owl:Class
MONDO:0011638	biolink:NamedThing	neuroferritinopathy	Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.	mondoexuq1wtf	ferritin-related neurodegeneration|basal ganglia disease, adult-onset|adult basal ganglia disease|NBIA3|Neuroferritinopathy; basal ganglia disease, adult-onset|hereditary ferritinopathy|neuroferritinopathy|neurodegeneration with brain iron accumulation 3|basal ganglia disease adult-onset|neurodegeneration with brain iron accumulation type 3					Editor note: consider relation to basal ganglia						MESH:C548080|ICD9:333.0|GARD:0010686|UMLS:C1853578|OMIM:606159|ICD10:G23.0|SCTID:699299001|Orphanet:157846|DOID:0110737																		owl:Class
MONDO:0024528	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	mondoexuq1wtf	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|PEOA1|progressive external ophthalmoplegia, autosomal dominant 1|autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG|POLG autosomal dominant progressive external ophthalmoplegia											DOID:0111521|OMIM:157640|UMLS:C1834846																		owl:Class
MONDO:0008003	biolink:NamedThing	autosomal dominant progressive external ophthalmoplegia	Autosomal dominant form of progressive external ophthalmoplegia.	mondoexuq1wtf	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|adPEO|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|PEOA1|progressive external ophthalmoplegia, autosomal dominant											MESH:C563575|UMLS:CN202062|Orphanet:254892|ICD10:H49.4																		owl:Class
MONDO:0014273	biolink:NamedThing	microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	mondoexuq1wtf	MRT40|intellectual disability, autosomal recessive 40|intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive 40|mental retardation, autosomal recessive type 40											Orphanet:397951|ICD10:Q87.8|OMIM:615599|UMLS:C3810080																		owl:Class
MONDO:0045056	biolink:NamedThing	grade II meningioma	An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.	mondoexuq1wtf	grade II meningioma|WHO grade II meningioma|grade 2 meningioma											NCIT:C38937|UMLS:C1512259																		owl:Class
MONDO:0013743	biolink:NamedThing	autosomal systemic lupus erythematosus type 16	An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.	mondoexuq1wtf	familial systemic lupus erythematosus|systemic lupus erythematosus 16|SLEB16|autosomal SLE|systemic lupus erythematosus type 16|familial SLE					Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164						OMIM:614420|UMLS:C3280742|ICD10:M32.8|Orphanet:300345																		owl:Class
MONDO:0018782	biolink:NamedThing	type 1 interferonopathy		mondoexuq1wtf												Orphanet:477647																		owl:Class
MONDO:0016321	biolink:NamedThing	pulmonary interstitial glycogenosis	Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).	mondoexuq1wtf	infantile cellular interstitial pneumonitis|pig											SCTID:707551007|Orphanet:217557|ICD10:P22.8|UMLS:C3161106|ICD10:J84.842																		owl:Class
MONDO:0018437	biolink:NamedThing	acute myeloid leukemia with NPM1 somatic mutations	Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	mondoexuq1wtf	AML with NPM1 somatic mutations											SCTID:763309005|Orphanet:402026|ICD10:C92.0																		owl:Class
MONDO:0020078	biolink:NamedThing	acute myeloid leukemia with recurrent genetic anomaly	A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)	mondoexuq1wtf	AML with recurrent genetic anomaly|AML with recurrent Genetic abnormalities|acute myeloid Leukemia with balanced Translocations/Inversions|acute myeloid Leukemia with recurrent Genetic abnormalities											Orphanet:98277|GARD:0012758|ONCOTREE:AMLRGA|NCIT:C7175														https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly				owl:Class
MONDO:0019443	biolink:NamedThing	dextro-looped transposition of the great arteries	Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.	mondoexuq1wtf	isolated ventriculoarterial discordance|congenitally uncorrected transposition of the great arteries|ventriculoarterial discordance with atrioventricular concordance|DTGA|congenitally uncorrected transposition of the great vessels|D-TGA											OMIMPS:608808|ICD10:Q20.3|DOID:0060770|Orphanet:860																		owl:Class
MONDO:0004308	biolink:NamedThing	meningeal sarcoma	A rare sarcoma arising from the meninges.	mondoexuq1wtf	meninges sarcoma|meningeal cluster sarcoma|sarcoma of meninges|meningeal sarcoma|sarcoma of the meninges|sarcoma of meningeal cluster											NCIT:C4073|DOID:7614|UMLS:C0302327																		owl:Class
MONDO:0021322	biolink:NamedThing	malignant tumor of meninges	A cancer that involves the meningeal cluster.	mondoexuq1wtf	malignant neoplasm of meningeal cluster|malignant neoplasm of meninges|malignant meninges neoplasm|cancer of meningeal cluster|cancer of meninges|malignant meninges tumor|malignant meningeal tumor|meningeal cancer|malignant meningeal cluster neoplasm|malignant neoplasm of the meninges|malignant neoplasms of meninges|meningeal cluster cancer|meningeal tumors, malignant|malignant tumor of the meninges|malignant meningeal neoplasms|cancer of the meninges											SCTID:363497007|NCIT:C4628|UMLS:C0348375																		owl:Class
MONDO:0040871	biolink:NamedThing	psychogenic polydipsia	A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.	mondoexuq1wtf	psychogenic polydipsia											SCTID:15945005																		owl:Class
MONDO:0040870	biolink:NamedThing	primary polydipsia	A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink.	mondoexuq1wtf																														owl:Class
MONDO:0010313	biolink:NamedThing	intellectual disability, X-linked 63	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.	mondoexuq1wtf	intellectual disability, X-linked type 63|mental retardation, X-linked 68|intellectual disability, X-linked 63|mental retardation, X-linked type 63|ACSL4 non-syndromic X-linked intellectual disability|MRX63|ACSL4-related intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|mental retardation, X-linked 63|intellectual disability, X-linked 68											OMIM:300387|MESH:C564522|GARD:0005613|UMLS:C1845672																		owl:Class
MONDO:0019181	biolink:NamedThing	non-syndromic X-linked intellectual disability	Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.	mondoexuq1wtf	intellectual disability, X-linked, nonsyndromic|non-syndromic intellectual disability, X-linked|non-specific X-linked mental retardation|X-linked non-syndromic intellectual disability|nonsyndromic X-linked intellectual disability|non-specific X-linked intellectual disability|mental retardation, X-linked, nonsyndromic|intellectual disability, nonsyndromic, X-linked|X-linked non-specific intellectual disability|mental retardation, nonsyndromic, X-linked|isolated X-linked intellectual disability											OMIMPS:309530|DOID:0050776|UMLS:C3501611|MESH:C564490|Orphanet:777|GARD:0003542|DC:0000656																		owl:Class
MONDO:0012301	biolink:NamedThing	mitochondrial DNA depletion syndrome, myopathic form	Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	mondoexuq1wtf	MTDPS2|mtDNA depletion syndrome, myopathic form|mitochondrial DNA depletion syndrome 2|mitochondrial DNA depletion syndrome type 2|mitochondrial DNA depletion myopathy, Tk2-related|mitochondrial DNA depletion syndrome 2 (myopathic type)											SCTID:703527003|UMLS:C3501891|Orphanet:254875|DOID:0080120|MESH:C563698|ICD10:G71.3|OMIM:609560|ICD9:359.89																		owl:Class
MONDO:0002330	biolink:NamedThing	alcoholic psychosis	A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.	mondoexuq1wtf	alcoholic psychoses											MESH:D011604|ICD9:291.8|DOID:252|ICD9:291.89|EFO:1001260|SCTID:42344001|ICD9:291.9																		owl:Class
MONDO:0002326	biolink:NamedThing	alcohol-induced mental disorder		mondoexuq1wtf												DOID:251|ICD9:291.8|ICD9:291.89																		owl:Class
MONDO:0037740	biolink:NamedThing	malignant central nervous system mesenchymal, non-meningothelial neoplasm	A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.	mondoexuq1wtf	malignant soft tissue tumor of central nervous system|malignant CNS soft tissue tumor|malignant CNS soft tissue neoplasm|malignant soft tissue neoplasm of the CNS|malignant soft tissue tumor of the CNS|soft tissue cancer of central nervous system|malignant soft tissue neoplasm of the central nervous system|malignant soft tissue tumor of the central nervous system|malignant central nervous system soft tissue tumor|malignant soft tissue neoplasm of CNS|malignant central nervous system mesenchymal non-meningothelial tumor|malignant central nervous system soft tissue neoplasm|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant central nervous system mesenchymal, non-meningothelial tumor|malignant soft tissue tumor of CNS|malignant central nervous system mesenchymal, non-meningothelial neoplasm|malignant soft tissue neoplasm of central nervous system|soft tissue cancer of the central nervous system											UMLS:C1334571|NCIT:C6758																		owl:Class
MONDO:0003244	biolink:NamedThing	central nervous system mesenchymal non-meningothelial tumor	A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)	mondoexuq1wtf	mesenchymal, non-meningothelial tumor of central nervous system|soft tissue tumor of the central nervous system|soft tissue neoplasm of CNS|soft tissue neoplasm of the central nervous system|CNS soft tissue neoplasm|mesenchymal non-meningothelial tumor of the central nervous system|CNS soft tissue tumor|soft tissue neoplasm of central nervous system|soft tissue neoplasm of the CNS|soft tissue tumor of the CNS|mesenchymal, non-meningothelial tumor of CNS|central nervous system mesenchymal, non-meningothelial neoplasm|central nervous system mesenchymal, non-meningothelial tumor|central nervous system soft tissue neoplasm|non-meningothelial mesenchymal tumor|soft tissue tumor of CNS|central nervous system soft tissue tumor|soft tissue tumor of central nervous system|mesenchymal, non-meningothelial tumor of the CNS											DOID:502|UMLS:C1332893|NCIT:C5449																		owl:Class
MONDO:0012354	biolink:NamedThing	platelet-type bleeding disorder 8	P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.	mondoexuq1wtf	BDPLT8|ADP platelet receptor P2Y12 defect|bleeding disorder due to P2Rx1 defect, somatic|bleeding disorder, platelet-type, 8|bleeding disorder, platelet-type 8|bleeding disorder due to P2Ry12 defect|P2Y12 defect											DOID:0060692|SCTID:725291001|ICD10:D69.8|MESH:C565220|OMIM:609821|UMLS:C1853278|Orphanet:36355|GARD:0012478																		owl:Class
MONDO:0020466	biolink:NamedThing	monosomy X		mondoexuq1wtf	monosomy type X											Orphanet:99226|ICD10:Q96.9|NCIT:C36630|SCTID:710008008|UMLS:CN776902																		owl:Class
MONDO:0019499	biolink:NamedThing	Turner syndrome	Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.	mondoexuq1wtf	gonadal dysgenesis|Turner Varny syndrome|gonadal dysgenesis (45,X)|45,X syndrome|genital dwarfism, Turner type|Schereshevkii Turner syndrome|Ullrich-Turner syndrome|gonadal dysgenesis - Turner|45, X syndrome|chromosome X monosomy X|genital dwarfism|45X syndrome|karyotype 45, X|monosomy X syndrome|XO syndrome|45,X0 syndrome|gonadal dysgenesis Turner type|monosomy X|Bonnevie-Ullrich syndrome|45,X gonadal dysgenesis|Bonnevie-Ulrich syndrome|45,X/46,XX syndrome					Editor note: consider splitting BU syndrome						ICD10:Q96.4|ICD10:Q96.8|ICD10:Q96.9|ICD10:Q96|GARD:0002540|ICD10:Q96.1|ICD10:Q96.3|MESH:D014424|UMLS:C0041408|MedDRA:10045181|GARD:0002458|GARD:0007831|GARD:0002459|COHD:4307885|DOID:3491|ICD10:Q96.2|NCIT:C26900|ICD10:Q96.0|ICD9:758.7|Orphanet:881|SCTID:38804009														https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome|https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism|https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type				owl:Class
MONDO:0006755	biolink:NamedThing	euthyroid sick syndrome	Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.	mondoexuq1wtf	sick euthyroid syndrome|euthyroid sick syndrome|sick-euthyroid syndrome											MESH:D005067|SCTID:237542005|DOID:2856|MedDRA:10015549|NCIT:C113170|ICD10:E07.81|UMLS:C0015190|COHD:137991|EFO:1000931|ICD9:790.94																		owl:Class
MONDO:0012699	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2M	Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	mondoexuq1wtf	LGMD2M|FKTN autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|MDDGC4|muscular dystrophy, limb-girdle, type 2M|LGMD-FKTN related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|limb-girdle muscular dystrophy type 2M											UMLS:C1969040|ICD10:G71.0|MESH:C566912|GARD:0012538|DOID:0110296|Orphanet:206554|OMIM:611588																		owl:Class
MONDO:0016334	biolink:NamedThing	neuromuscular disease with dilated cardiomyopathy		mondoexuq1wtf												Orphanet:217610|UMLS:CN201165																		owl:Class
MONDO:0018005	biolink:NamedThing	spastic paraplegia-Paget disease of bone syndrome	Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.	mondoexuq1wtf												UMLS:CN204217|Orphanet:329475|ICD10:G11.4																		owl:Class
MONDO:0000469	biolink:NamedThing	sinoatrial node disease	A disease involving the sinoatrial node.	mondoexuq1wtf	SA node|sinuatrial node|disorder of sinoatrial node|sinoatrial node disease|disease or disorder of sinoatrial node|sinoatrial node disease or disorder|disease of sinoatrial node											DOID:0050824																		owl:Class
MONDO:0000992	biolink:NamedThing	heart conduction disease	A disease that has its basis in the disruption of the heart's electrical conduction system.	mondoexuq1wtf	disease of cardiac conduction|cardiac conduction disease|conduction disease of heart|disorder of cardiac conduction|cardiac conduction disorder|heart rhythm disease											ICD9:426.6|DOID:10273|SCTID:44808001																		owl:Class
MONDO:0016308	biolink:NamedThing	Niemann-Pick disease type C, late infantile neurologic onset		mondoexuq1wtf												ICD10:E75.2|Orphanet:216978|UMLS:CN201114																		owl:Class
MONDO:0018982	biolink:NamedThing	Niemann-Pick disease type C	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.	mondoexuq1wtf	NPC											MESH:D052556|SCTID:66751000|Orphanet:646|ICD10:E75.2																		owl:Class
MONDO:0004207	biolink:NamedThing	pulmonary artery leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of pulmonary artery|leiomyosarcoma of the pulmonary artery|pulmonary artery leiomyosarcoma											DOID:7389|UMLS:C1335572|NCIT:C5373																		owl:Class
MONDO:0019971	biolink:NamedThing	melanoma of soft tissue		mondoexuq1wtf	clear cell sarcoma of the tendons and aponeuroses											Orphanet:97338																		owl:Class
MONDO:0006424	biolink:NamedThing	soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	mondoexuq1wtf	neoplasm of the soft tissue|tumor of soft tissue|soft tissue tumors|soft tissue neoplasm|soft tissue tumor|neoplasm of soft tissue|SOFTTISSUE|tumor of the soft tissue											ONCOTREE:SOFTTISSUE|SCTID:387837005|EFO:1000541|NCIT:C3377																		owl:Class
MONDO:0024387	biolink:NamedThing	benign ovarian sex cord-stromal tumor	A sex cord-stromal tumor arising from the ovary, without metastatic potential.	mondoexuq1wtf	benign ovarian Sex cord-stromal tumor|ovarian sex cord-stromal tumor, benign|ovarian SEX cord-stromal tumor, benign|benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal neoplasm of ovary|benign Sex cord-stromal neoplasm of the ovary|Sex cord stromal tumor, benign|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal tumor of ovary											UMLS:C1332528|NCIT:C6803|DOID:0080370																		owl:Class
MONDO:0021657	biolink:NamedThing	ovarian sex cord-stromal tumor	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.	mondoexuq1wtf	ovary sex cord-stromal tumor|sex cord-stromal tumor of ovary|Sex cord-stromal tumor of the ovary|ovarian Sex cord-stromal neoplasm|Sex cord-stromal neoplasm of ovary|Sex cord-stromal neoplasm of the ovary|Sex cord-stromal tumor of ovary|ovarian sex cord tumor with annular tubules|sex cord stromal tumor|ovarian Sex cord-stromal tumor											UMLS:C0600113|DOID:0080369|ONCOTREE:SCST|NCIT:C4862|EFO:1000430|GARD:0012285																		owl:Class
MONDO:0044144	biolink:NamedThing	panic disorder with agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.	mondoexuq1wtf	panic disorder with agoraphobia											NCIT:C97194|SCTID:35607004																		owl:Class
MONDO:0005383	biolink:NamedThing	panic disorder	An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.	mondoexuq1wtf	panic anxiety syndrome											SCTID:371631005|DOID:594|ICD9:300.01|NCIT:C34890|UMLS:CN240645|MESH:D016584|EFO:0004262																		owl:Class
MONDO:0013750	biolink:NamedThing	atrial septal defect 8	Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.	mondoexuq1wtf	ASD8|atrial heart septal defect type 8|atrial septal defect type 8|atrial heart septal defect caused by mutation in CITED2|CITED2 atrial heart septal defect|atrial septal defect 8											OMIM:614433|ICD10:Q21.1|DOID:0110113																		owl:Class
MONDO:0009653	biolink:NamedThing	mucolipidosis type IV	Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.	mondoexuq1wtf	ML4|ganglioside sialidase deficiency|mucolipidosis type IV|MLIV|ganglioside neuraminidase deficiency|mucolipidosis 4|sialolipidosis|Berman syndrome|mucolipidosis IV|ML IV|mucolipidosis type 4|ML 4											UMLS:CN716584|GARD:0000094|NCIT:C84896|SCTID:111384001|GTR:AN1124590|DOID:0080490|ICD10:E75.1|GTR:AN1125033|GTR:AN1125032|UMLS:C0238286|GTR:AN1148743|OMIM:252650|Orphanet:578																		owl:Class
MONDO:0004247	biolink:NamedThing	peptic ulcer disease	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	mondoexuq1wtf	acute peptic ulcer with hemorrhage|acute peptic ulcer with hemorrhage and perforation|acute peptic ulcer without hemorrhage and without perforation|peptic ulcer											UMLS:C0030920|NCIT:C3318|MESH:D010437|ICD9:533|ICD10:K27|SCTID:13200003|DOID:750																		owl:Class
MONDO:0004335	biolink:NamedThing	digestive system disease	A disease or disorder that involves the digestive system.	mondoexuq1wtf	disease or disorder of digestive system|gastrointestinal disease|digestive system disease|disease of digestive system|gastroenterological system disorder|disorder of digestive system|git disease|gastrointestinal disorder|digestive system disease or disorder|alimentary system disease|digestive disease|gastrointestinal system disease|gastroenterological system disease|gastroenteropathy|digestive system disorder|stomach or intestinal disorder|gastrointestinal system disorder											ICD9:V47.3|MESH:D005767|DOID:77|ICD9:520-579.99|EFO:0000405|ICD10:K92.9|SCTID:53619000|COHD:4201745|NCIT:C2990																		owl:Class
MONDO:0008850	biolink:NamedThing	Cooper-Jabs syndrome	Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.	mondoexuq1wtf	aural atresia, multiple congenital anomalies, and mental retardation|aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia-multiple congenital anomalies-intellectual disability syndrome											OMIM:209770|SCTID:720748007|ICD10:Q87.8|Orphanet:1488|MESH:C565923																		owl:Class
MONDO:0019743	biolink:NamedThing	nephropathy secondary to a storage or other metabolic disease		mondoexuq1wtf												Orphanet:93593|UMLS:CN206659																		owl:Class
MONDO:0003801	biolink:NamedThing	corneal intraepithelial neoplasm	A squamous cell intraepithelial neoplasia that involves the cornea.	mondoexuq1wtf	cornea squamous cell intraepithelial neoplasia|intraepithelial neoplasia of the cornea|cornea intraepithelial neoplasia|corneal intraepithelial neoplasia|intraepithelial neoplasia of cornea											SCTID:420835009|DOID:6198|UMLS:C1333159|NCIT:C6093																		owl:Class
MONDO:0021238	biolink:NamedThing	cornea neoplasm	A neoplasm (disease) that involves the cornea.	mondoexuq1wtf	neoplasm of the cornea|tumor of cornea|tumor of the cornea|cornea tumor|corneal neoplasm|neoplasm of cornea|corneal tumor|cornea neoplasm (disease)											UMLS:C0339304|NCIT:C4361																		owl:Class
MONDO:0008180	biolink:NamedThing	congenital velopharyngeal incompetence	Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.	mondoexuq1wtf	velopharyngeal insufficiency|palatopharyngeal incompetence|velopharyngeal incompetence											GARD:0005470|ICD10:J39.2|Orphanet:2291|UMLS:C0042454|OMIM:167500|MESH:D014681																		owl:Class
MONDO:0018923	biolink:NamedThing	22q11.2 deletion syndrome	22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	mondoexuq1wtf	velocardiofacial syndrome|monosomy 22q11|Shprintzen syndrome|conotruncal anomaly face syndrome|22q11DS|Takao syndrome|catch 22|Sedlackova syndrome|DiGeorge sequence|Cayler cardiofacial syndrome|VCFS|microdeletion 22q11.2|DiGeorge syndrome											MedDRA:10066430|MedDRA:10012979|ICD10:D82.1|Orphanet:567|GARD:0010299																		owl:Class
MONDO:0016920	biolink:NamedThing	partial deletion of the long arm of chromosome 22		mondoexuq1wtf	partial deletion of the long arm of chromosome type 22|partial monosomy of the long arm of chromosome 22|partial deletion of chromosome 22q|partial monosomy of chromosome 22q											ICD10:Q93.5|Orphanet:262182																		owl:Class
MONDO:0011500	biolink:NamedThing	Becker nevus syndrome	Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.	mondoexuq1wtf	Becker nevus syndrome|pigmentary hairy epidermal nevus|hairy epidermal nevus syndrome											OMIM:604919|Orphanet:64755|ICD10:D22.5|UMLS:C1858042|MESH:C565735|GARD:0003856														https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome				owl:Class
MONDO:0000620	biolink:NamedThing	breast benign neoplasm	A non-metastasizing neoplasm arising from the breast parenchyma.	mondoexuq1wtf	benign neoplasm of the breast|benign tumor of the breast|breast benign neoplasm|benign breast tumor|benign tumor of breast|benign neoplasm of breast|benign breast neoplasm											COHD:72576|ICD9:217|NCIT:C4505|DOID:0060082|SCTID:269485000																		owl:Class
MONDO:0009144	biolink:NamedThing	Ebstein anomaly	Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.	mondoexuq1wtf	Ebstein's anomaly of common atrioventricular valve|Ebstein's anomaly (disorder) [ambiguous]|Ebstein anomaly of the tricuspid valve|Ebstein malformation|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly|Ebstein's malformation|Ebstein anomaly (disease)|Ebstein anomaly|Ebstein's anomaly of right atrioventricular valve		Ebstein anomaly (disease)									GARD:0006313|MedDRA:10014075|Orphanet:1880|NCIT:C84681|DOID:14289|ICD10:Q22.5|OMIM:224700|EFO:0007244|MESH:D004437|UMLS:C0013481|COHD:4069182|ICD9:746.2																		owl:Class
MONDO:0020289	biolink:NamedThing	congenital tricuspid malformation		mondoexuq1wtf												ICD10:Q22.4|HP:0001702|Orphanet:98721|ICD10:Q22.8|ICD10:Q22.5|ICD10:Q22.9																		owl:Class
MONDO:0023137	biolink:NamedThing	feigenbaum Bergeron syndrome		mondoexuq1wtf												GARD:0002280														https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome				owl:Class
MONDO:0002622	biolink:NamedThing	multifocal osteogenic sarcoma	A primary bone osteosarcoma affecting multiple bone sites.	mondoexuq1wtf	multicentric osteosarcoma|multifocal osteosarcoma											UMLS:C1334820|DOID:3360|NCIT:C6470																		owl:Class
MONDO:0009807	biolink:NamedThing	osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.	mondoexuq1wtf	osteoid sarcoma|bone tissue neoplasm|osteosarcoma, malignant|osteogenic sarcoma|sarcoma of osteoid|osteosarcoma|osteosarcoma (disease)		osteosarcoma (disease)									DOID:3347|ONCOTREE:OS|EFO:0000637|HP:0002669|ICDO:9180/3|NCIT:C9145																		owl:Class
MONDO:0019804	biolink:NamedThing	tracheomalacia	Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.	mondoexuq1wtf	type 1 tracheomalacia|congenital major airway collapse|congenital tracheomalacia|tracheomalacia, congenital											SCTID:95467005|GARD:0010515|MedDRA:10010654|ICD10:Q32.0|HP:0002779|DOID:0060313|NCIT:C98634|UMLS:C0948187|Orphanet:95430|COHD:4316227|ICD9:748.3																		owl:Class
MONDO:0012783	biolink:NamedThing	RFT1-CDG	RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type In|congenital disorder of glycosylation, type In|congenital disorder of glycosylation type In|CDG in|RFT1-CDG (CDG-In)|CDG1N|CDG-In|CDG syndrome type In|Man5GlcNAc2-PP-Dol flippase deficiency|CDGIN|congenital disorder of glycosylation type 1n											Orphanet:244310|SCTID:733084000|UMLS:C2677590|DOID:0080566|ICD10:E77.8|OMIM:612015|GARD:0012394|MESH:C567437																		owl:Class
MONDO:0008088	biolink:NamedThing	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine		mondoexuq1wtf	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine											MESH:C563516|OMIM:162600|UMLS:C1834180																		owl:Class
MONDO:0019388	biolink:NamedThing	pelvis syndrome	PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	mondoexuq1wtf	perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|lumbar syndrome|urorectal septum malformation sequence											UMLS:C4510867|SCTID:725138002|ICD10:Q87.8|UMLS:CN206083|Orphanet:83628																		owl:Class
MONDO:0018718	biolink:NamedThing	vascular tumor with associated anomalies		mondoexuq1wtf						Editor note: what is associated anomalies?						Orphanet:458827|UMLS:CN242155																		owl:Class
MONDO:0015491	biolink:NamedThing	immune complex mediated vasculitis		mondoexuq1wtf												Orphanet:156149																		owl:Class
MONDO:0016364	biolink:NamedThing	Joubert syndrome with ocular defect	Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.	mondoexuq1wtf	JBTS3|Joubert syndrome with ocular anomalies|JS-O|Joubert syndrome 3|Joubert syndrome with retinopathy											UMLS:C4274118|SCTID:716998009|GARD:0010168|ICD10:Q04.3|ICD10:H35.5|UMLS:CN201217|Orphanet:220493														https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies				owl:Class
MONDO:0011683	biolink:NamedThing	oculocutaneous albinism type 4	Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	mondoexuq1wtf	oculocutaneous albinism caused by mutation in SLC45A2|OCA4|SLC45A2 oculocutaneous albinism|oculocutaneous albinism type IV|albinism, oculocutaneous, type 4|albinism, oculocutaneous, type IV|oculocutaneous albinism, type 4											DOID:0070098|Orphanet:79435|OMIM:606574|SCTID:715632003|UMLS:C1847836|ICD10:E70.3|MESH:C564696																		owl:Class
MONDO:0018910	biolink:NamedThing	oculocutaneous albinism	Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.	mondoexuq1wtf	OCA|nonsyndromic oculocutaneous albinism|albinism, oculocutaneous|non-syndromic oculocutaneous albinism											SCTID:63844009|ICD10:E70.3|UMLS:C0078918|NCIT:C84941|ICD9:270.2|DOID:0050632|Orphanet:55|GARD:0010958|OMIMPS:203100|MESH:D016115														https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism				owl:Class
MONDO:0016696	biolink:NamedThing	anaplastic oligodendroglioma	A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).	mondoexuq1wtf	oligodendroglioma, malignant|WHO grade III oligodendroglial neoplasm|oligodendroglioma, anaplastic, malignant|WHO grade III oligodendroglial tumor|undifferentiated oligodendroglioma|malignant oligodendroglioma|anaplastic oligodendroglioma											GARD:0009472|ONCOTREE:AODG|Orphanet:251630|UMLS:C0334590|MedDRA:10026659|ICD10:C79.1|ICDO:9451/3|EFO:0002501|NCIT:C4326|ICD10:C71.9														https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma				owl:Class
MONDO:0018744	biolink:NamedThing	oligodendroglial tumor	Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).	mondoexuq1wtf	oligodendroglial neoplasm|oligodendroglial tumor											Orphanet:46484|UMLS:C1335110|NCIT:C6960|UMLS:CN205116																		owl:Class
MONDO:0060582	biolink:NamedThing	auditory neuropathy-optic atrophy syndrome		mondoexuq1wtf	auditory neuropathy and optic atrophy|ANOA											Orphanet:542585|OMIM:617717|UMLS:C4521678																		owl:Class
MONDO:0002149	biolink:NamedThing	reproductive system cancer	A malignant neoplasm involving the reproductive organ	mondoexuq1wtf	malignant reproductive organ neoplasm|malignant neoplasm of reproductive system|reproductive system cancer|cancer of reproductive system|cancer of reproductive organ|reproductive organ cancer|reproductive tumor|malignant neoplasm of reproductive organ|malignant reproductive system neoplasm											NCIT:C36076|DOID:193|UMLS:C1334618																		owl:Class
MONDO:0014302	biolink:NamedThing	hereditary spastic paraplegia 62	Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	mondoexuq1wtf	ERLIN1 autosomal recessive pure spastic paraplegia|hereditary spastic paraplegia type 62|autosomal recessive spastic paraplegia 62|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|SPG62|spastic paraplegia 62, autosomal recessive|autosomal recessive spastic paraplegia type 62											UMLS:C4284588|ICD10:G11.4|DOID:0110813|SCTID:765045003|OMIM:615681|Orphanet:401785																		owl:Class
MONDO:0015090	biolink:NamedThing	autosomal recessive pure spastic paraplegia	Autosomal recessive form of pure hereditary spastic paraplegia.	mondoexuq1wtf	pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure SPG|autosomal recessive pure hereditary spastic paraplegia|autosomal recessive uncomplicated SPG|autosomal recessive uncomplicated HSP|autosomal recessive pure HSP|autosomal recessive uncomplicated spastic paraplegia											Orphanet:100982|UMLS:CN228910|ICD10:G11.4																		owl:Class
MONDO:0000949	biolink:NamedThing	conjunctival degeneration		mondoexuq1wtf												ICD10:H11.10|COHD:381580|DOID:10139|SCTID:40787005|ICD9:372.50|UMLS:C0155160																		owl:Class
MONDO:0006170	biolink:NamedThing	conjunctival disorder	Any disorder of the conjunctiva.	mondoexuq1wtf	disorder of conjunctiva|conjunctival disorder|disease or disorder of conjunctiva|conjunctival disease|conjunctiva disease|disease of conjunctiva|conjunctiva disease or disorder											NCIT:C27605|MONDO:0002932|EFO:1000203|DOID:4251																		owl:Class
MONDO:0001511	biolink:NamedThing	thyrotoxic exophthalmos		mondoexuq1wtf												ICD9:376.21|COHD:440108|UMLS:C0155265|DOID:12362|SCTID:19885005																		owl:Class
MONDO:0001509	biolink:NamedThing	endocrine exophthalmos		mondoexuq1wtf												SCTID:276177000|DOID:12359|UMLS:C0155264|ICD9:376.2																		owl:Class
MONDO:0009931	biolink:NamedThing	pulmonary atresia-intact ventricular septum syndrome	Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.	mondoexuq1wtf	pulmonary valve atresia with intact ventricular septum|pulmonary atresia with intact ventricular septum											NCIT:C99032|GARD:0004600|SCTID:253590009|OMIM:265150|UMLS:C0344975|ICD10:Q22.6|Orphanet:1208|MESH:C562832																		owl:Class
MONDO:0020197	biolink:NamedThing	EEC syndrome and related syndrome		mondoexuq1wtf						Editor note: check this						Orphanet:98609|UMLS:CN207046																		owl:Class
MONDO:0020196	biolink:NamedThing	anomaly of the secretory and excretory apparatus of the lacrimal system		mondoexuq1wtf												Orphanet:98608																		owl:Class
MONDO:0005356	biolink:NamedThing	coronary vasospasm	Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.	mondoexuq1wtf	coronary artery vasospasm|coronary vasospasm|coronary artery spasm											ICD9:413.9|MESH:D003329|EFO:0004225|DOID:11840|UMLS:C0010073|SCTID:23687008																		owl:Class
MONDO:0007473	biolink:NamedThing	Duane retraction syndrome	Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.	mondoexuq1wtf	retraction syndrome|DURS|Duane retraction syndrome|Duane's syndrome|Duane syndrome|DRS|Stilling-Turk-Duane syndrome|Duane anomaly											MedDRA:10013799|NCIT:C84678|ICD10:H50.8|ICD9:378.71|SCTID:60318001|OMIMPS:126800|Orphanet:233|COHD:376989|GARD:0006288|DOID:12557|MESH:D004370|ICD10:H50.81|UMLS:C0013261														https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome				owl:Class
MONDO:0006616	biolink:NamedThing	toxicodendron dermatitis	An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)	mondoexuq1wtf	Rhus dermatitis|contact dermatitis due to genus Toxicodendron											MESH:D011040|EFO:1000773|ICD9:692.6|DOID:3819|UMLS:C0032342|SCTID:410049000																		owl:Class
MONDO:0006525	biolink:NamedThing	allergic contact dermatitis	An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.	mondoexuq1wtf	allergic form of contact dermatitis|allergic contact dermatitis											ICD10:L23|DOID:3042|MESH:D017449|COHD:4031019|EFO:1000668|NCIT:C26998|ICD9:692.9|ICD10:L23.9|SCTID:238575004|UMLS:C0162820																		owl:Class
MONDO:0018092	biolink:NamedThing	Vogt-Koyanagi-Harada disease	Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	mondoexuq1wtf	Vogt-Koyanagi-Harada syndrome|VKH syndrome|Harada's disease|uveomeningoencephalitic syndrome|VKH disease|Vogt-Koyanagi syndrome|Uveomenigitic syndrome											Orphanet:3437|ICD9:363.22|DOID:12297|ICD10:H30.81|ICD10:H20.8|GARD:0007862|MESH:D014607|ICD9:364.24|ICD10:H30.8|COHD:4108968|SCTID:193497004|ICD10:H20.82|NCIT:C85218|UMLS:C0042170														https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease				owl:Class
MONDO:0009664	biolink:NamedThing	mulibrey nanism	A prenatal onset growth disorder with multiorgan manifestations.	mondoexuq1wtf	pericardial constriction and Growth failure|Perheentupa syndrome|MUL|pericardial constriction-growth failure syndrome|muscle-liver-brain-eye nanism|mulibrey dwarfism|mulibrey nanism|pericardial constriction and growth failure											SCTID:81604003|Orphanet:2576|NCIT:C84906|MESH:D050336|OMIM:253250|UMLS:C0524582|UMLS:C2931895|ICD10:Q87.1|ICD9:759.89|DOID:0050436|GARD:0000095														https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism				owl:Class
MONDO:0100306	biolink:NamedThing	disorder of defective peroxisome oxidative status	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.	mondoexuq1wtf	disorder of defective peroxisome oxidative status							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0013443	biolink:NamedThing	Seckel syndrome 5	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.	mondoexuq1wtf	SCKL5|Seckel syndrome 5|Seckel syndrome caused by mutation in CEP152|CEP152 Seckel syndrome|Seckel syndrome type 5											OMIM:613823|DOID:0070012|UMLS:C3151187																		owl:Class
MONDO:0000524	biolink:NamedThing	mixed extragonadal germ cell cancer	A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.	mondoexuq1wtf												DOID:0050907																		owl:Class
MONDO:0015864	biolink:NamedThing	mixed germ cell tumor	A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.	mondoexuq1wtf	combined germ cell tumor|mixed germ cell cancer|combined germ cell neoplasm|mixed germ cell tumour|mixed germ cell neoplasm|mixed germ cell tumor											UMLS:C0334524|Orphanet:180234|NCIT:C4290|DOID:3306|ICDO:9085/3																		owl:Class
MONDO:0005791	biolink:NamedThing	herpangina	A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.	mondoexuq1wtf	vesicular pharyngitis											ICD10:B08.5|EFO:0007306|ICD9:074.0|SCTID:274102007|UMLS:C0019338|DOID:10883|MESH:D006557|COHD:132553																		owl:Class
MONDO:0000584	biolink:NamedThing	B cell linker protein deficiency	A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.	mondoexuq1wtf	B-cell linker protein deficiency|BLNK deficiency											DOID:0060027																		owl:Class
MONDO:0015977	biolink:NamedThing	agammaglobulinemia	A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.	mondoexuq1wtf	antibody Deficiency|Gammaglobulin Deficiency|hypogammaglobulinemia|mu heavy chain deficiency|Immunoglobulin Deficiency|IGHM											OMIMPS:601495|MedDRA:10001471|GARD:0007455|Orphanet:183669|DOID:2583|ICD10:D80.1|ICD9:279.00|MESH:D000361																		owl:Class
MONDO:0013240	biolink:NamedThing	maturity-onset diabetes of the young type 10	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.	mondoexuq1wtf	maturity-onset diabetes of the young, type 10|INS maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in INS|MODY10											SCTID:609577006|UMLS:C3150617|OMIM:613370|DOID:0111108																		owl:Class
MONDO:0011054	biolink:NamedThing	autosomal recessive amelia	Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.	mondoexuq1wtf	amelia, autosomal recessive											SCTID:726735000|UMLS:C1832432|MESH:C563338|ICD10:Q73.0|Orphanet:1027|OMIM:601360																		owl:Class
MONDO:0020118	biolink:NamedThing	dense granule disease		mondoexuq1wtf	Delta granule disease											UMLS:CN207010|ICD10:D69.1|Orphanet:98456																		owl:Class
MONDO:0044969	biolink:NamedThing	disease of membrane bound organelle		mondoexuq1wtf																														owl:Class
MONDO:0016749	biolink:NamedThing	tumor of cranial and spinal nerves		mondoexuq1wtf	rare tumor of cranial and spinal nerves											GARD:0012697|Orphanet:252057|UMLS:CN201996														https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves				owl:Class
MONDO:0021248	biolink:NamedThing	nervous system neoplasm	A neoplasm (disease) that involves the nervous system.	mondoexuq1wtf	tumor of the nervous system|nervous system tumour|neoplasm of the nervous system|nervous system neoplasms|tumor of nervous system|neoplasm of nervous system|nervous system neoplasm (disease)|nervous system tumor											NCIT:C3268|COHD:444200																		owl:Class
MONDO:0000597	biolink:NamedThing	Munchausen by proxy	A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.	mondoexuq1wtf	Munchausen syndrome by proxy|Munchausen by proxy syndrome											DOID:0060045|SCTID:95637005|GARD:0007117|MESH:D016735														https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome				owl:Class
MONDO:0002103	biolink:NamedThing	factitious disorder	A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.	mondoexuq1wtf	Munchausen syndrome											DOID:1766|ICD9:300.16|MESH:D009110|SCTID:50705009|ICD10:F68.11|COHD:440984|ICD9:300.19|NCIT:C92198																		owl:Class
MONDO:0024529	biolink:NamedThing	MVP1		mondoexuq1wtf	barlow syndrome|mitral regurgitation, familial|myxomatous valvular disease, familial|floppy mitral valve|click-murmur syndrome|mitral valve prolapse, familial, X-linked|mitral valve prolapse, familial|PMV|mitral valve prolapse 1|mitral valve prolapse, myxomatous 1|prolapsed mitral valve|myxomatous mitral valve prolapse 1|MVP1											UMLS:CN074267|GARD:0003688|OMIM:157700																		owl:Class
MONDO:0012134	biolink:NamedThing	myoclonic epilepsy, juvenile, susceptibility to, 3		mondoexuq1wtf	myoclonic epilepsy, juvenile, susceptibility to, 3|EJM3											DOID:0111326|UMLS:C1837308|OMIM:608816																		owl:Class
MONDO:0019422	biolink:NamedThing	X-linked intellectual disability, Stevenson type	An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	mondoexuq1wtf												UMLS:CN206178|ICD10:Q87.8|Orphanet:85325|SCTID:718909001																		owl:Class
MONDO:0032745	biolink:NamedThing	developmental delay with variable intellectual impairment and behavioral abnormalities		mondoexuq1wtf	DDVIBA|DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES											OMIM:618430																		owl:Class
MONDO:0011107	biolink:NamedThing	congenital hypotrichosis with juvenile macular dystrophy	Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	mondoexuq1wtf	juvenile macular dystrophy and congenital hypotrichosis|hypotrichosis with juvenile macular degeneration|juvenile macular degeneration and hypotrichosis|hypotrichosis, congenital, with juvenile macular dystrophy|hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular dystrophy|HJMD|Hjmd											MESH:C537698|DOID:0110711|ICD10:Q84.0|GARD:0003066|Orphanet:1573|OMIM:601553|UMLS:C1832162																		owl:Class
MONDO:0011609	biolink:NamedThing	atopic dermatitis 6	An atopic dermatitis associated with variation in the region 5q31-q33.	mondoexuq1wtf	dermatitis, ATOPIC, 6|atopic dermatitis type 6|ATOD6											DOID:0110102|UMLS:C1853899|OMIM:605845|MESH:C565279																		owl:Class
MONDO:0008022	biolink:NamedThing	muscle cramps, familial		mondoexuq1wtf	muscle cramps, familial											MESH:C563563|OMIM:158400|UMLS:C1834708																		owl:Class
MONDO:0006014	biolink:NamedThing	vulvovaginal candidiasis	Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.	mondoexuq1wtf	monilial vulvovaginitis|candidal: [vulvovaginitis NOS] or [cervix]|candidiasis of vulva and vagina|candidal: cervix|vaginal candidiasis|candidal vulvovaginitis|vulvovaginal candidiasis											ICD9:112.1|DOID:2272|SCTID:72605008|NCIT:C2914|ICD10:B37.3|MESH:D002181|UMLS:C0700345|COHD:4217669|EFO:0007543																		owl:Class
MONDO:0023557	biolink:NamedThing	infective vaginitis	An infectious process affecting the vagina. Symptoms include pain and purulent discharge.	mondoexuq1wtf	Infective vaginitis|Vaginal infection|Vaginal Infection|PV - Vaginal infection|vaginal infection											UMLS:C0404521|SCTID:237091009|NCIT:C84353																		owl:Class
MONDO:0018860	biolink:NamedThing	microlissencephaly-micromelia syndrome	Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	mondoexuq1wtf	Basel-Vanagaite-Sirota syndrome											UMLS:CN205181|Orphanet:50810|ICD10:Q04.3																		owl:Class
MONDO:0015655	biolink:NamedThing	cerebral malformation with epilepsy		mondoexuq1wtf												Orphanet:166478																		owl:Class
MONDO:0022098	biolink:NamedThing	catamenial pneumothorax	Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.	mondoexuq1wtf	catamenial pneumothorax|premenstrual pneumothorax											MESH:C538279|UMLS:C0340007|GARD:0009858|SCTID:233642001														https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax				owl:Class
MONDO:0002076	biolink:NamedThing	pneumothorax	Abnormal presence of air in the pleural cavity.	mondoexuq1wtf	pneumothorax|pneumothorax (disease)		pneumothorax (disease)									COHD:253796|ICD9:512.8|HP:0002107|ICD10:J93.1|MESH:D011030|DOID:1673|SCTID:36118008|NCIT:C38006																		owl:Class
MONDO:0007437	biolink:NamedThing	dentin dysplasia type II	Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.	mondoexuq1wtf	anomalous dysplasia of dentin|pulp stones|dentin dysplasia, type 2|dentin dysplasia, coronal|DD-II|pulpal dysplasia|coronal dentin dysplasia|dentin dysplasia, type II|dentin dysplasia, Shields type 2|Dtdp2|dentin dyspalsia, Shields type 2|DTDP2											ICD9:520.5|Orphanet:99791|SCTID:109494000|OMIM:125420|ICD10:K00.5|GARD:0001806																		owl:Class
MONDO:0015613	biolink:NamedThing	dentin dysplasia	Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.	mondoexuq1wtf	dentinal dysplasia|DD											DOID:701|ICD9:520.5|SCTID:109492001|Orphanet:1653|MESH:D003805|ICD10:K00.5																		owl:Class
MONDO:0021783	biolink:NamedThing	streptococcal sore throat	Inflammation of the throat due to Streptococcus pyogenes.	mondoexuq1wtf	Strep throat|streptococcal pharyngitis|Streptococcal Pharyngitis|Streptococcal pharyngitis|Streptococcal sore throat|Strept throat|strep throat|Streptococcal angina|Septic sore throat											EFO:1002024|ICD9:034.0|NCIT:C116003|UMLS:C0036689|SCTID:43878008																		owl:Class
MONDO:0002258	biolink:NamedThing	pharyngitis	Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.	mondoexuq1wtf	Sore throat - chronic|persistent sore throat|inflamed throat|acute sore throat|pharyngeal disease|throat inflammation|pharyngitis - acute|pharyngeal disorder|chronic pharyngitis and nasopharyngitis|chronic pharyn/nasopharyngitis|chronic sore throat|chronic pharyngitis|Sore throat|acute pharyngitis|inflammation of throat											SCTID:405737000|MESH:D010612|ICD9:478.20|NCIT:C26851|DOID:2275|ICD10:J02|UMLS:C0031350|ICD10:J02.9|ICD9:462|ICD9:472																		owl:Class
MONDO:0004173	biolink:NamedThing	adenocarcinoma of skene gland origin	A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.	mondoexuq1wtf	adenocarcinoma of Skene gland origin|Skene gland carcinoma|carcinoma of Skene's gland|carcinoma of paraurethral gland|carcinoma of Skene gland|adenocarcinoma of Skene gland|paraurethral gland adenocarcinoma|paraurethral gland carcinoma|carcinoma of the paraurethral gland											DOID:7284|UMLS:C1527427|NCIT:C39863																		owl:Class
MONDO:0024336	biolink:NamedThing	vulvar adenocarcinoma	An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.	mondoexuq1wtf	adenocarcinoma of vulva|vulva adenocarcinoma|adenocarcinoma of the vulva|mammalian vulva adenocarcinoma|vulvar adenocarcinoma											Orphanet:494454|DOID:2098|UMLS:C1336975|NCIT:C6380																		owl:Class
MONDO:0015060	biolink:NamedThing	mosaic trisomy 3	Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.	mondoexuq1wtf	Mosaic trisomy chromosome 3|trisomy 3 mosaicism|Mosaic trisomy type 3											GARD:0005342|ICD10:Q92.1|UMLS:CN073992|SCTID:764627005|Orphanet:100071																		owl:Class
MONDO:0018809	biolink:NamedThing	idiopathic peliosis hepatis		mondoexuq1wtf	idiopathic peliosis hepatitis											Orphanet:480524																		owl:Class
MONDO:0002251	biolink:NamedThing	hepatitis	An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.	mondoexuq1wtf	chronic persistent hepatitis|Hepatitides|acute/subac. necrosis of liver|animal hepatitis|inflammation of liver|liver inflammation|hepatitis|acute hepatitis|Hepatitis|acute and subacute liver necrosis|chronic hepatitis											ICD9:570|NCIT:C3095|DOID:2237|ICD10:K73.9|EFO:0008496|ICD9:571.41|ICD9:571.4|SCTID:197268000|MESH:D006505|ICD9:571.40																		owl:Class
MONDO:0044984	biolink:NamedThing	nasolacrimal duct disease	A disease or disorder that involves the nasolacrimal duct.	mondoexuq1wtf	nasolacrimal duct disease|disease or disorder of nasolacrimal duct|disorder of nasolacrimal duct|disease of nasolacrimal duct|nasolacrimal duct disease or disorder											SCTID:95767006|UMLS:C0521744																		owl:Class
MONDO:0001854	biolink:NamedThing	lacrimal apparatus disease	A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.	mondoexuq1wtf	lacrimal apparatus disease|lachrymal system disorders|disorder of lacrimal apparatus|disease of lacrimal apparatus|lacrimal system disease|disease or disorder of lacrimal apparatus|disorder of lacrimal system|lacrimal system disorder|lacrimal apparatus disease or disorder											DOID:1400|ICD9:375|ICD9:375.69|NCIT:C26809|ICD10:H04.9|ICD10:H04|ICD9:375.89|ICD9:375.9|SCTID:31053003																		owl:Class
MONDO:0015867	biolink:NamedThing	vaginal carcinoma	A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.	mondoexuq1wtf	vaginal cancer, NOS|carcinoma of vagina|vaginal malignant epithelial tumor|vaginal carcinoma|vagina carcinoma|vagina cancer|carcinoma of the vagina|cancer of the vagina|cancer of vagina|vaginal cancer											Orphanet:180247|ICD10:C52|DOID:0050918|UMLS:C0262659|NCIT:C3917																		owl:Class
MONDO:0001402	biolink:NamedThing	vaginal cancer	A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.	mondoexuq1wtf	vagina neoplasm|malignant vaginal neoplasm|malignant vagina neoplasm|malignant vagina tumor|vagina cancer|malignant vaginal tumor|vaginal tumor|malignant tumor of vagina|malignant neoplasm of the vagina|malignant tumor of the vagina|cancer of vagina|malignant neoplasm of vagina											NCIT:C7410|MESH:D014625|DOID:119|ICD9:184.0|GARD:0009348|SCTID:363445000|ICD10:C52														https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer				owl:Class
MONDO:0008148	biolink:NamedThing	osteogenesis imperfecta type 4	Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).	mondoexuq1wtf	osteogenesis imperfecta with normal sclera|OI type IV|osteogenesis imperfecta type IV|osteogenesis imperfecta with normal sclerae|OI, type 4|OI4|osteogenesis imperfecta, type 4|osteogenesis imperfecta, type IV|OI type 4|common variable OI with normal sclerae											Orphanet:216820|MESH:C536045|ICD10:Q78.0|UMLS:C0268363|SCTID:205497004|GARD:0008696|NCIT:C98576|DOID:0110340|OMIM:166220																		owl:Class
MONDO:0019019	biolink:NamedThing	osteogenesis imperfecta	Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.	mondoexuq1wtf	Vrolik's disease|Lobstein disease|Vrolik disease|Porak and Durante disease|OI|Osteopsathyrosis|brittle bone disease|Fragilitas ossium|glass bone disease|Lobstein's syndrome											ICD10:Q78.0|Orphanet:666|COHD:78257|MESH:D010013|DOID:12347|UMLS:C0029434|SCTID:78314001|OMIMPS:166200|MedDRA:10031243|ICD9:756.51|GARD:0001017|NCIT:C26837														https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta				owl:Class
MONDO:0011236	biolink:NamedThing	hyperinsulinism due to glucokinase deficiency	Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.	mondoexuq1wtf	hyperinsulinemic hypoglycemia due to glucokinase deficiency|HHF3|hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, type 3											SCTID:717182006|MESH:C538374|GARD:0002818|ICD10:E16.1|GARD:0009930|Orphanet:79299|DOID:0070216|OMIM:602485														https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3				owl:Class
MONDO:0015624	biolink:NamedThing	diazoxide-sensitive diffuse hyperinsulinism		mondoexuq1wtf	hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form											Orphanet:165985|ICD10:E16.1																		owl:Class
MONDO:0009861	biolink:NamedThing	phenylketonuria	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.	mondoexuq1wtf	Folling's syndrome|phenylalanine hydroxylase deficiency|Folling's disease|HPA, non-PKU mild|Folling disease|phenylalaninemia|oligophrenia phenylpyruvica|Følling's disease|imbecilitus phenylpyruvica|PKU|hyperphenylalaninemia, non-PKU mild|PAH deficiency|phenylketonuria, maternal|phenylpyruvic oligophrenia|pah deficiency|phenylketonuria|Pah deficiency|oligophrenia Phenylpyruvica											OMIM:261600|DOID:9281|UMLS:C0031485|ICD10:E70.0|Orphanet:716|GARD:0007383|NCIT:C81315|MESH:D010661|SCTID:7573000|MedDRA:10034872|ICD9:270.1|ICD10:E70.1																		owl:Class
MONDO:0006035	biolink:NamedThing	gastric tubular adenocarcinoma	A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.	mondoexuq1wtf	tubular adenocarcinoma of stomach|stomach tubular adenocarcinoma|tubular adenocarcinoma of the stomach|gastric tubular adenocarcinoma|tubular stomach adenocarcinoma											NCIT:C5473|DOID:6595|EFO:1000030|UMLS:C1333791|ONCOTREE:TSTAD																		owl:Class
MONDO:0005606	biolink:NamedThing	tubular adenocarcinoma	An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.	mondoexuq1wtf	carcinoma, tubular cell, malignant|tubular adenocarcinoma (morphologic abnormality)|tubular adenocarcinoma|tubular carcinoma											EFO:0006500|NCIT:C65192|ICDO:8211/3|DOID:4929|UMLS:C0205645																		owl:Class
MONDO:0014071	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.	mondoexuq1wtf	Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11|MDDGA11|muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11											DOID:0111230|UMLS:C3554638|OMIM:615181																		owl:Class
MONDO:0013038	biolink:NamedThing	CLOVES syndrome	CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	mondoexuq1wtf	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|CLOVE syndrome|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|CLOVES syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi											GARD:10939|OMIM:612918|MESH:C567863|ICD10:Q87.3|Orphanet:140944|SCTID:719475006|GARD:0010939|DOID:0080351|UMLS:C2752042																		owl:Class
MONDO:0019296	biolink:NamedThing	subcutaneous tissue disease	A disease involving the superficial fascia.	mondoexuq1wtf	superficial fascia disease or disorder|disorder of superficial fascia|disease of superficial fascia|superficial fascia disease|disease or disorder of superficial fascia											Orphanet:79382|UMLS:C1290008																		owl:Class
MONDO:0007413	biolink:NamedThing	Cyprus facial-neuromusculoskeletal syndrome	Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.	mondoexuq1wtf	CYPRUS facial neuromusculoskeletal syndrome|unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects											SCTID:732261005|MESH:C536229|UMLS:C1852396|Orphanet:2674|GARD:0009487|OMIM:123853|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome				owl:Class
MONDO:0011344	biolink:NamedThing	parotitis, juvenile recurrent		mondoexuq1wtf	parotitis, juvenile recurrent											UMLS:C1863691|MESH:C566359|OMIM:603588																		owl:Class
MONDO:0006677	biolink:NamedThing	bile reflux	Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.	mondoexuq1wtf												EFO:1000838|DOID:12237|UMLS:C0005403|MESH:D001655																		owl:Class
MONDO:0004868	biolink:NamedThing	biliary tract disease	A disease involving the biliary tree.	mondoexuq1wtf	biliary tree disease or disorder|disease or disorder of biliary tree|biliary tree disease|disorder of biliary tree|disease of biliary tree											ICD9:576.9|MESH:D001660|DOID:9741|SCTID:105997008|ICD10:K83.9																		owl:Class
MONDO:0010127	biolink:NamedThing	thymoma, familial	An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary thymoma (disease)|thymoma, familial|thymic neoplasia											UMLS:C1848814|OMIM:274230|MESH:C564767																		owl:Class
MONDO:0016825	biolink:NamedThing	mitochondrial myopathy-lactic acidosis-deafness syndrome	Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	mondoexuq1wtf	mitochondrial myopathy with lactic acidosis|MMLA|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness											Orphanet:2597|OMIM:251950|GARD:0003682|ICD10:G71.3|MESH:C537476														https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis				owl:Class
MONDO:0008495	biolink:NamedThing	platelet storage pool deficiency	Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.	mondoexuq1wtf	combined alpha-delta platelet storage pool deficiency|storage pool platelet disease|alpha delta granule deficiency|dense body defect|platelet dense granule deficiency|platelet storage pool diseases|alpha dense granule deficiency|platelet storage pool defect											OMIM:185050|Orphanet:734|EFO:1001112|DOID:2223|MESH:D010981|SCTID:234474009|ICD10:D69.1|GARD:0005034														https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency				owl:Class
MONDO:0008564	biolink:NamedThing	DiGeorge syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	mondoexuq1wtf	22q11.2 Deletion syndrome|DiGeorge syndrome chromosome region|Sphrintzen|chromosome 22Q11.2 deletion syndrome|Di-George syndrome|pharyngeal pouch syndrome|third and fourth pharyngeal pouch syndrome|velo-cardio-facial syndrome|DiGeorge syndrome|velocardiofacial syndrome|Catch22|hypoplasia of thymus and parathyroids|DGS1|DGS|Shprintzen syndrome|Takao VCF syndrome|VCF|DiGeorge's syndrome|DiGeorge syndrome type 1|22q deletion syndrome(s)|DiGeorge anomaly											DOID:11198|UMLS:CN734570|ICD10:D82.1|GTR:AN1145678|OMIM:188400|SCTID:77128003|MESH:D004062|ICD9:279.11|NCIT:C2989																		owl:Class
MONDO:0100013	biolink:NamedThing	paratenonitis with tendinosis	Paratenonitis associated with intratendinous degeneration.	mondoexuq1wtf					2018-07-17 16:02:57+00:00																									owl:Class
MONDO:0100012	biolink:NamedThing	paratenonitis	Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.	mondoexuq1wtf					2018-07-17 16:02:16+00:00																									owl:Class
MONDO:0027069	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1		mondoexuq1wtf	mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1|MC5DM1											DOID:0111748|OMIM:500015																		owl:Class
MONDO:0014471	biolink:NamedThing	mitochondrial proton-transporting ATP synthase complex deficiency	A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).	mondoexuq1wtf	isolated ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency|isolated mitochondrial respiratory chain complex V deficiency					Consider splitting out nuclear type for OMIMPS						OMIMPS:604273|Orphanet:254913|DOID:0111143|UMLS:C4015062|ICD10:E88.8																		owl:Class
MONDO:0007794	biolink:NamedThing	hypogonadotropic hypogonadism 7 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.	mondoexuq1wtf	hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 7 with or without anosmia|HH7											ICD9:253.4|SCTID:123953004|ICD10:E23.0|DOID:0090078|OMIM:146110																		owl:Class
MONDO:0014102	biolink:NamedThing	hypogonadotropic hypogonadism 17 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.	mondoexuq1wtf	HH17|SPRY4 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 17 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in SPRY4											DOID:0090079|OMIM:615266|ICD10:E23.0|UMLS:C3808971																		owl:Class
MONDO:0001497	biolink:NamedThing	male genital organ vascular disease		mondoexuq1wtf	vascular disorder of male genital organs											ICD9:608.83|SCTID:198057005|UMLS:C0042374|ICD10:N50.1|DOID:12335																		owl:Class
MONDO:0014373	biolink:NamedThing	nephrotic syndrome, type 10	Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.	mondoexuq1wtf	nephrotic syndrome, type 10|NPHS10|EMP2 nephrotic syndrome|nephrotic syndrome caused by mutation in EMP2											OMIM:615861|UMLS:C4014507|DOID:0080386																		owl:Class
MONDO:0037938	biolink:NamedThing	inborn disorder of aspartate family metabolism	An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	mondoexuq1wtf	inborn error of aspartate family amino acid metabolic process|inborn aspartate family amino acid metabolic process disorder|rare inborn error of aspartate family amino acid metabolic process																													owl:Class
MONDO:0004736	biolink:NamedThing	inherited amino acid metabolic disorder	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.	mondoexuq1wtf	inborn cellular amino acid metabolic process disorder|amino acid metabolism, inborn errors|inborn error of cellular amino acid metabolic process|inborn error of amino acid metabolism|amino acid metabolic disorder|inborn amino acid metabolism disorder|inborn errors of amino acid metabolism|rare inborn error of cellular amino acid metabolic process											ICD10:E72.9|DOID:9252|ICD9:270|MESH:D000592|SCTID:42930003|GARD:0006770|ICD9:270.9																		owl:Class
MONDO:0016478	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion		mondoexuq1wtf												Orphanet:231130|UMLS:CN201473|ICD10:Q87.3																		owl:Class
MONDO:0016998	biolink:NamedThing	complex chromosomal rearrangement		mondoexuq1wtf												Orphanet:263708																		owl:Class
MONDO:0007922	biolink:NamedThing	lymphedema-distichiasis syndrome	Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.	mondoexuq1wtf	lymphedema-distichiasis syndrome|lymphedema with distichiasis|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|hereditary lymphedema-distichiasis syndrome (subtype)											DOID:0111509|SCTID:8634009|Orphanet:33001|ICD10:Q82.0|OMIM:153400|UMLS:C0265345|NCIT:C128191|MESH:C537710|GARD:0000333|ICD9:743.63														https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome				owl:Class
MONDO:0020162	biolink:NamedThing	secondary ectropion		mondoexuq1wtf												ICD10:H02.1|Orphanet:98571																		owl:Class
MONDO:0010295	biolink:NamedThing	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	mondoexuq1wtf	OLEDAID|ol-EDA-ID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema											SCTID:720986005|ICD10:Q78.2|MESH:C564538|OMIM:300301|Orphanet:69088																		owl:Class
MONDO:0021950	biolink:NamedThing	autoimmune oophoritis	Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.	mondoexuq1wtf												MESH:C538274|UMLS:C0878654|GARD:0009461														https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis				owl:Class
MONDO:0000569	biolink:NamedThing	autoimmune disease of endocrine system	A hypersensitivity reaction type II disease that involves the endocrine system.	mondoexuq1wtf	endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease											DOID:0060005|UMLS:C0342552|SCTID:237822008|ICD9:279.49																		owl:Class
MONDO:0002158	biolink:NamedThing	fallopian tube cancer	A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.	mondoexuq1wtf	tumor of the fallopian tube|malignant neoplasm of uterine tube|malignant tumor of the fallopian tube|tumor, fallopian tube, malignant|tubal cancer|cancer of fallopian tubes|fallopian tube malignant tumor|malignant tumour of fallopian tube|malignant neoplasm of fallopian tube|malignant fallopian tube tumor|malignant fallopian tube neoplasm|neoplasm, fallopian tube, malignant|fallopian tube cancer|malignant tumor of fallopian tubes|fallopian tube malignant neoplasm|cancer of fallopian tube|malignant tumor of fallopian tube|malignant neoplasm of the fallopian tube|malignant tubal tumor											UMLS:C0153579|Orphanet:180242|ICD9:183.2|SCTID:363444001|MedDRA:10025915|ICD10:C57.0|UMLS:CN200469|NCIT:C7480|DOID:1964|GARD:0009162																		owl:Class
MONDO:0004547	biolink:NamedThing	reticular pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.	mondoexuq1wtf	testicular yolk Sac tumor, microcystic pattern|testicular yolk Sac tumor, reticular pattern											UMLS:C1515308|NCIT:C39923|DOID:8392																		owl:Class
MONDO:0003402	biolink:NamedThing	testicular yolk sac tumor	A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.	mondoexuq1wtf	testis yolk sac tumor|testicular yolk sac tumor|endodermal sinus tumor of testis|yolk Sac tumor of the testis|yolk Sac neoplasm of testis|endodermal sinus neoplasm of the testis|endodermal sinus neoplasm of testis|yolk sac tumor|testicular yolk Sac neoplasm|Orchidoblastoma|endodermal sinus tumor of the testis|testicular endodermal sinus neoplasm|yolk Sac neoplasm of the testis|endodermal-sinus tumor|yolk Sac tumor of testis|testicular endodermal sinus tumor											GARD:0000348|UMLS:C0279708|EFO:1000574|NCIT:C8000|DOID:5344|ONCOTREE:TYST																		owl:Class
MONDO:0018933	biolink:NamedThing	Mazabraud syndrome	Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.	mondoexuq1wtf	Myxoma with fibrous dysplasia											ICD10:M85.0|UMLS:CN205323|Orphanet:57782|ICD9:733.29|SCTID:699251001|ICD9:215.9																		owl:Class
MONDO:0000757	biolink:NamedThing	glucocorticoid-induced osteoporosis	An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.	mondoexuq1wtf	steroid-induced osteoporosis											DOID:0060343																		owl:Class
MONDO:0024651	biolink:NamedThing	corticosteroid-induced osteoporosis		mondoexuq1wtf	osteoporosis due to corticosteroid|osteoporosis caused by corticosteroid											ICD9:733.09|UMLS:C1272167|SCTID:390833005																		owl:Class
MONDO:0032793	biolink:NamedThing	O'Donnell-Luria-Rodan syndrome		mondoexuq1wtf	O'Donnell-Luria-Rodan syndrome|ODLURO											OMIM:618512																		owl:Class
MONDO:0003645	biolink:NamedThing	cavernous hemangioma of face	A cavernous hemangioma arising from the face.	mondoexuq1wtf	cavernous hemangioma of face|face cavernous hemangioma|cavernous hemangioma of the Face										MONDO:0006125	HP:0007486|UMLS:C1332863|NCIT:C7053|DOID:5776|EFO:1000152																		owl:Class
MONDO:0003155	biolink:NamedThing	cavernous hemangioma	A hemangioma characterized by the presence of cavernous vascular spaces.	mondoexuq1wtf	cavernous hemangioma (morphologic abnormality)|cavernoma|cavernous haemangioma|cavernous angioma|cavernous hemangioma										MONDO:0006124	SCTID:416824008|NCIT:C3086|ICD10:D18.0|DOID:483|UMLS:C0018920|EFO:1000151|ICDO:9121/0|HP:0001048|MESH:D006392																		owl:Class
MONDO:0013790	biolink:NamedThing	mirror movements 2	Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.	mondoexuq1wtf	RAD51 familial congenital mirror movements|mirror movements 2|MRMV2|familial congenital mirror movements caused by mutation in RAD51|mirror movements type 2											UMLS:C3281089|OMIM:614508																		owl:Class
MONDO:0002118	biolink:NamedThing	urinary system disease	A disease involving the renal system.	mondoexuq1wtf	non-neoplastic urinary tract disease|diseases, urologic|diseases, urinary tract|disorder of renal system|disease of renal system|urologic disorder|urinary tract disorder|urological disorder|diseases, urological|disease, urinary tract|urinary tract diseases|disease or disorder of renal system|renal system disease|urologic disease|urinary system disorder|urological disease|urological disorders|disorder of the urinary system|urological diseases|urinary system disease|disorder of urinary system|disease, urological|disease, urologic|renal system disease or disorder|urinary tract disease|urinary disease											UMLS:C1335051|DOID:18|ICD9:V47.4|NCIT:C3430|SCTID:128606002|MESH:D014570																		owl:Class
MONDO:0011273	biolink:NamedThing	H syndrome	H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).	mondoexuq1wtf	H syndrome|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|histiocytosis with Joint contractures and sensorineural deafness|sinus histiocytosis and massive lymphadenopathy|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|HJCD|histiocytosis-lymphadenopathy plus syndrome|Faisalabad histiocytosis|Rosai-Dorfman disease, familial|Asrar Facharzt Haque syndrome|pigmented hypertrichosis with insulin-dependent diabetes mellitus|SLC29A3 spectrum disorder											GARD:0000581|ICD10:D76.3|MESH:C538322|UMLS:C2930890|GARD:0010239|UMLS:C1864445|Orphanet:168569|SCTID:711159002|OMIM:602782|MESH:C535391														https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome				owl:Class
MONDO:0003636	biolink:NamedThing	vulvar sebaceous carcinoma	A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.	mondoexuq1wtf	sebaceous adenocarcinoma of mammalian vulva|mammalian vulva sebaceous adenocarcinoma											UMLS:C1520094|NCIT:C40309|DOID:5761																		owl:Class
MONDO:0006962	biolink:NamedThing	sebaceous adenocarcinoma	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	mondoexuq1wtf	sebaceous gland carcinoma|sebaceous carcinoma|carcinoma of sebaceous gland|malignant sebaceous tumor|carcinoma of the sebaceous gland|sebaceous cancer|Seba|adenocarcinoma of the sebaceous gland|adenocarcinoma, sebaceous, malignant|sebaceous gland adenocarcinoma											DOID:4839|ICD10:C44|ONCOTREE:SEBA|NCIT:C40310|SCTID:307599002|MESH:D018266|UMLS:C0206684|DOID:4840|EFO:1001171|ICDO:8410/3																		owl:Class
MONDO:0001788	biolink:NamedThing	nutmeg liver		mondoexuq1wtf	chronic passive congestion of liver											COHD:200451|ICD9:573.0|ICD10:K76.1|DOID:13739|SCTID:34736002|UMLS:C0156195																		owl:Class
MONDO:0002405	biolink:NamedThing	hepatic vascular disease	A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.	mondoexuq1wtf	hepatic vascular disorder|liver vascular disorder|vascular disorder of liver											SCTID:235878005|NCIT:C35442|ICD9:573.8|DOID:272|UMLS:C0400923																		owl:Class
MONDO:0008006	biolink:NamedThing	Mobius syndrome	Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.	mondoexuq1wtf	absence or underdevelopment of the 6th and 7th cranial nerves|MBS|Moebius sequence|Moebius syndrome|oromandibular-limb hypogenesis spectrum|Möbius syndrome|congenital facial diplegia|Moebius congenital oculofacial paralysis|congenital oculofacial paralysis|Mobius syndrome|congenital facial diplegia syndrome											MESH:D020331|GARD:0008549|MedDRA:10030069|EFO:1001046|ICD9:759.89|DOID:13501|MedDRA:10027789|NCIT:C84893|UMLS:C0221060|SCTID:89444000|ICD10:Q87.0|Orphanet:570|UMLS:C0853240|OMIM:157900																		owl:Class
MONDO:0015499	biolink:NamedThing	paralytic facial malformation		mondoexuq1wtf												ICD10:Q87.0|Orphanet:156224																		owl:Class
MONDO:0009352	biolink:NamedThing	classic homocystinuria	Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.	mondoexuq1wtf	CBS deficiency|homocystinuria due to CBS deficiency|hyperhomocysteinemia, thrombotic, CBS-related|cystathionine beta-synthase deficiency|homocystinuria with or without response to pyridoxine|homocystinuria due to cystathionine beta-synthase deficiency											GARD:0006667|UMLS:C0751202|SCTID:24308003|MedDRA:10071093|Orphanet:394|OMIM:236200|ICD10:E72.1														https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency				owl:Class
MONDO:0020236	biolink:NamedThing	lens position anomaly	Partial or complete displacement of the crystalline lens from its normal position in the eye.	mondoexuq1wtf	ectopia lentis					Editor note: consider obsoleting as is a phenotypic feature						HP:0001083|ICD10:Q12.1|NCIT:C125484|Orphanet:98653																		owl:Class
MONDO:0014369	biolink:NamedThing	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	mondoexuq1wtf	Pallister-Hall syndrome 2|CJS|Pallister-Hall syndrome 2, formerly|Culler-Jones syndrome											OMIM:615849|ICD10:Q87.8|UMLS:C4014479|Orphanet:420584|GARD:0013349|DOID:0080328																		owl:Class
MONDO:0006993	biolink:NamedThing	systolic heart failure	Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.	mondoexuq1wtf												MedDRA:10074631|COHD:443580|ICD10:I50.20|ICD9:428.2|ICD9:428.20|ICD10:I50.2|SCTID:417996009|UMLS:C1135191|DOID:9651|MESH:D054143|EFO:1001207																		owl:Class
MONDO:0005009	biolink:NamedThing	congestive heart failure	Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.	mondoexuq1wtf	CHF|cardiac failure, congestive|heart failure, congestive|congestive heart disease|failure, congestive heart|weak heart											SCTID:42343007|COHD:319835|NCIT:C3080|ICD10:I50|ICD9:428|ICD10:I50.9|ICD9:404.13|ICD9:404.01|ICD10:I50.0|DOID:6000|EFO:0000373|UMLS:C0018802|ICD9:428.9|ICD9:404.11|ICD9:428.0																		owl:Class
MONDO:0021143	biolink:NamedThing	melanocytic neoplasm		mondoexuq1wtf	melanomas and nevi|melanocytic neoplasm											SCTID:399956005|NCIT:C7058|UMLS:C1302746|MESH:D018326																		owl:Class
MONDO:0009272	biolink:NamedThing	German syndrome	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	German syndrome											OMIM:231080|Orphanet:2077|UMLS:C3887495|ICD10:Q87.8|SCTID:733037000|MESH:C562543																		owl:Class
MONDO:0019175	biolink:NamedThing	primary lymphedema	A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.	mondoexuq1wtf	Troncular lymphatic malformation|primary lymphedema											ICD10:I89.0|Orphanet:77240|NCIT:C48829																		owl:Class
MONDO:0017773	biolink:NamedThing	hypoalphalipoproteinemia	A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.	mondoexuq1wtf												MESH:D052456|MedDRA:10065156|ICD10:E78.6|NCIT:C84774|Orphanet:31153|UMLS:C0473527|SCTID:190785000																		owl:Class
MONDO:0100362	biolink:NamedThing	lip herpes simplex type 2 infectious disease	Any herpes simplex type 2 infectious disease that involves the lip.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0043653	biolink:NamedThing	herpes labialis	A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.	mondoexuq1wtf	herpes simplex labialis|Herpes simplex, labial|Sore, cold|labial Herpes simplex|cold sores|Sores, cold|blisters, fever|cold sore|fever blister|fever blisters|blister, fever|herpes labialis											UMLS:C0019345|NCIT:C34695|MESH:D006560|SCTID:1475003|EFO:1001347														https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0021364	biolink:NamedThing	neoplasm of oropharynx	A neoplasm (disease) that involves the oropharynx.	mondoexuq1wtf	tumor of oropharynx|oropharyngeal tumor|oropharyngeal neoplasms|oropharyngeal neoplasm|oropharynx neoplasm (disease)|oropharynx neoplasm|neoplasm of oropharynx|oropharynx tumor|neoplasm of the oropharynx|tumor of the oropharynx											SCTID:126809003|UMLS:C0029295|NCIT:C3291																		owl:Class
MONDO:0001649	biolink:NamedThing	fungal esophagitis	Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.	mondoexuq1wtf	fungal esophagitis											NCIT:C27107|SCTID:235602008|DOID:13147|UMLS:C0341109|ICD9:117.9																		owl:Class
MONDO:0002041	biolink:NamedThing	fungal infectious disease	An infection caused by a fungus.	mondoexuq1wtf	infections, Fungi|mycoses|Fungi disease or disorder|Fungi caused disease or disorder|Fungi infection|fungal infection|mycosis|Fungi infectious disease|infection, fungal											ICD10:B35.B49|MESH:D009181|DOID:1564|ICD10:B35-B49|ICD10:B49|SCTID:3218000|NCIT:C3245|COHD:433701|ICD9:117.9|ICD9:110-118.99																		owl:Class
MONDO:0008284	biolink:NamedThing	polyposis of gastric fundus without polyposis coli		mondoexuq1wtf	polyposis of gastric fundus without polyposis coli|fundic gland polyposis											OMIM:175505|UMLS:C1868001|MESH:C566775																		owl:Class
MONDO:0020653	biolink:NamedThing	vaginal adenocarcinoma	An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.	mondoexuq1wtf	adenocarcinoma of the vagina|vaginal adenocarcinoma|vagina adenocarcinoma|adenocarcinoma of vagina											NCIT:C7981|ONCOTREE:VA																		owl:Class
MONDO:0020694	biolink:NamedThing	salivary gland epithelial myoepithelial carcinoma	A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.	mondoexuq1wtf	salivary gland epithelial myoepithelial carcinoma											NCIT:C35701																		owl:Class
MONDO:0003389	biolink:NamedThing	epithelial-myoepithelial carcinoma	A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.	mondoexuq1wtf	EMYOCA|epithelial-myoepithelial carcinoma											ONCOTREE:EMYOCA|ICDO:8562/3|UMLS:C0334392|NCIT:C4199|DOID:5309|GARD:0006364																		owl:Class
MONDO:0002132	biolink:NamedThing	skull cancer	A malignant neoplasm involving the skull.	mondoexuq1wtf	malignant neoplasm of skull|skull cancer|cancer of skull|malignant skull neoplasm											DOID:1863																		owl:Class
MONDO:0006345	biolink:NamedThing	palmar fibromatosis	A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.	mondoexuq1wtf	palmar part of manus fibromatosis|Dupuytren contracture (disease)|Dupuytren contracture|palmar fibromatosis|Dupuytren's contracture											SCTID:203045001|EFO:1000438|EFO:0004229|MESH:D004387|NCIT:C3469|HP:0005679																		owl:Class
MONDO:0005307	biolink:NamedThing	contracture	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	mondoexuq1wtf	muscle contracture											MESH:D003286|EFO:0003899																		owl:Class
MONDO:0019633	biolink:NamedThing	relapsing fever	Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.	mondoexuq1wtf												ICD10:A68|ICD9:087.9|ICD10:A68.0|ICD9:087|UMLS:C0035021|COHD:440637|Orphanet:91547|MESH:D012061|ICD10:A68.1|MedDRA:10038300|DOID:13034|ICD10:A68.9|SCTID:420079008																		owl:Class
MONDO:0006681	biolink:NamedThing	Borrelia infectious disease	Infections with bacteria of the genus borrelia.	mondoexuq1wtf	Borrelia caused disease or disorder|Borrelia disease or disorder											MedDRA:10061591|MESH:D001899|EFO:1000842|UMLS:C0006035																		owl:Class
MONDO:0004217	biolink:NamedThing	childhood brain germinoma	A germinoma arising from the brain during childhood.	mondoexuq1wtf	brain germinoma of childhood|germinoma of the childhood brain|pediatric brain germ cell cancer|germinoma of childhood brain|pediatric brain germinoma|germinoma of pediatric brain|germinoma of the pediatric brain											UMLS:C1332948|NCIT:C6207|DOID:7429																		owl:Class
MONDO:0012280	biolink:NamedThing	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.	mondoexuq1wtf	GOSHS|megacolon-microcephaly syndrome|Goldberg-Shprintzen syndrome|Goldberg-Shprintzen megacolon syndrome											DOID:0060481|MESH:C537279|UMLS:C1836123|ICD10:Q87.8|SCTID:717822006|Orphanet:66629|OMIM:609460|GARD:0009849																		owl:Class
MONDO:0010111	biolink:NamedThing	odontotrichomelic syndrome	Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.	mondoexuq1wtf	odontotrichomelic syndrome|Freire-Maia syndrome|tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities|Freire-Maia odontotrichomelic syndrome|odontotrichomelic hypohidrotic dysplasia											Orphanet:2723|UMLS:CN074199|SCTID:239028001|UMLS:C2930960|OMIM:273400|GARD:0002381|MESH:C535637														https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome				owl:Class
MONDO:0015419	biolink:NamedThing	midline cervical cleft	Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.	mondoexuq1wtf												ICD9:744.89|Orphanet:141288|ICD10:Q18.8|SCTID:403557001																		owl:Class
MONDO:0015412	biolink:NamedThing	median facial cleft		mondoexuq1wtf	Tessier number 0-14 and 30 facial cleft|Midline facial cleft											Orphanet:141234|ICD10:Q18.8																		owl:Class
MONDO:0100348	biolink:NamedThing	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.	mondoexuq1wtf	NEDMILG											OMIM:619091																		owl:Class
MONDO:0004924	biolink:NamedThing	chronic canaliculitis	Chronic form of actinomycosis.	mondoexuq1wtf	chronic actinomycosis|actinomycosis, chronic											ICD9:375.41|ICD10:H04.42|DOID:9936|SCTID:26479009|UMLS:C0155240																		owl:Class
MONDO:0005631	biolink:NamedThing	actinomycosis	Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.	mondoexuq1wtf	boil|actinomycotic mycetoma of foot|Madura foot due to Actinomadura|infections, Actinomyces|anaerobic Actinomyces infection|actinomycotic madura foot|actinomycotic mycetema|Keratoactinomycosis|Actinomyces infection|Actinomyces israeli|actinomycetoma|canaliculitis|Actinomycetes											GARD:0005728|EFO:0007128|ICD9:039|MESH:D000196|ICD10:A42.8|ICD10:A42|DOID:8478|COHD:436020|NCIT:C34350|ICD9:039.9|ICD10:A42.1|Orphanet:457095|UMLS:C0001261|ICD10:A42.2|ICD10:A42.9|ICD10:A42.0|ICD10:A42.7														https://rarediseases.info.nih.gov/diseases/5728/actinomycosis				owl:Class
MONDO:0013245	biolink:NamedThing	syndromic multisystem autoimmune disease due to ITCH deficiency		mondoexuq1wtf	autoimmune disease, syndromic multisystem|syndromic multisystem autoimmune disease|autoimmune disease, multisystem, with facial dysmorphism|ADMFD|ITCH E3 ubiquitin ligase deficiency											UMLS:C3150649|OMIM:613385|Orphanet:228426|GARD:0010775														https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency				owl:Class
MONDO:0015473	biolink:NamedThing	cryptorchidism-arachnodactyly-intellectual disability syndrome	Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	mondoexuq1wtf	cryptorchidism arachnodactyly intellectual deficit|Van Benthem-Driessen-Hanveld syndrome											GARD:0000860|Orphanet:1548|ICD10:Q87.8|UMLS:CN199616																		owl:Class
MONDO:0017878	biolink:NamedThing	Chapare hemorrhagic fever	Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.	mondoexuq1wtf												SCTID:716584007|ICD10:A96.8|Orphanet:319244|UMLS:C4274434|DOID:0050198|UMLS:CN203927																		owl:Class
MONDO:0005651	biolink:NamedThing	arenavirus hemorrhagic fever	A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.	mondoexuq1wtf	arenaviral hemorrhagic fever										MONDO:0024384	EFO:0007151|SCTID:73730005|ICD9:078.7|UMLS:C0153112																		owl:Class
MONDO:0013198	biolink:NamedThing	dilated cardiomyopathy 1EE	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	mondoexuq1wtf	familial isolated dilated cardiomyopathy caused by mutation in MYH6|cardiomyopathy, dilated, 1EE|cardiomyopathy, dilated, type 1Ee|MYH6 familial isolated dilated cardiomyopathy|CMD1EE|dilated cardiomyopathy type 1EE											DOID:0110453|ICD10:I42.0|OMIM:613252|UMLS:C2750466|MESH:C567683																		owl:Class
MONDO:0000903	biolink:NamedThing	myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.	mondoexuq1wtf	myoclonus, hereditary essential|myoclonus-Dystonia|dystonia, alcohol responsive|DYT-SGCE|dystonia-11, myoclonic|Hereditary essential myoclonus|dystonia, alcohol-responsive|hereditary essential myoclonus|myoclonus-dystonia|dystonia 11, myoclonic|alcohol-responsive dystonia|dystonia with myoclonus|DYT11|myoclonic dystonia|myoclonus-dystonia syndrome|dystonia 11											SCTID:439732004|ICD10:G24.1|MESH:C536096|Orphanet:36899|UMLS:C1834570|DOID:0090033|GARD:0007139|ICD9:333.99																		owl:Class
MONDO:0017651	biolink:NamedThing	primary myoclonus		mondoexuq1wtf												Orphanet:306750																		owl:Class
MONDO:0001995	biolink:NamedThing	sphenoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	mondoexuq1wtf	epidermoid carcinoma of the sphenoidal sinus|squamous cell carcinoma of the sphenoid sinus|sphenoid sinus epidermoid carcinoma|epidermoid carcinoma of sphenoidal sinus|sphenoidal sinus squamous cell carcinoma|sphenoidal sinus epidermoid carcinoma|squamous cell carcinoma of sphenoid sinus|squamous cell carcinoma of sphenoidal sinus|epidermoid carcinoma of the sphenoid sinus|sphenoid sinus squamous cell carcinoma|squamous cell carcinoma of the sphenoidal sinus|epidermoid carcinoma of sphenoid sinus											NCIT:C6066|SCTID:707355002|DOID:14547|UMLS:C1336039																		owl:Class
MONDO:0003508	biolink:NamedThing	choriocarcinoma of testis	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	mondoexuq1wtf	testis choriocarcinoma (disease)|choriocarcinoma of the testis|choriocarcinoma|testicular choriocarcinoma|choriocarcinoma of testis											NCIT:C7733|UMLS:C0238449|ONCOTREE:TCCA|DOID:5551|EFO:1000564																		owl:Class
MONDO:0010027	biolink:NamedThing	free sialic acid storage disease, infantile form		mondoexuq1wtf	Nana storage disease|ISSD|infantile sialic acid storage disorder|infantile free sialic acid storage disease|N-acetylneuraminic acid storage disease|sialuria, infantile form|infantile sialic acid storage disease											SCTID:34566007|Orphanet:309324|OMIM:269920|GARD:0000175|MedDRA:10067532|ICD10:E77.8																		owl:Class
MONDO:0019366	biolink:NamedThing	free sialic acid storage disease	Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).	mondoexuq1wtf												UMLS:C2931872|MedDRA:10067531|GARD:0010870|UMLS:CN206051|MedDRA:10067529|Orphanet:834|MESH:C538523|ICD10:E77.8																		owl:Class
MONDO:0004861	biolink:NamedThing	ophthalmia nodosa		mondoexuq1wtf												UMLS:C0154775|SCTID:12371008|ICD9:360.14|ICD10:H16.24|DOID:9722																		owl:Class
MONDO:0019801	biolink:NamedThing	acute adrenal insufficiency	Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.	mondoexuq1wtf	acute adrenal failure|adrenal crisis|acute adrenocortical insufficiency|adrenocortical crisis|Addisonian crisis											ICD10:E27.2|NCIT:C112840|Orphanet:95409|UMLS:C0151467|ICD9:255.41|SCTID:24867002																		owl:Class
MONDO:0015128	biolink:NamedThing	primary adrenal insufficiency	A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.	mondoexuq1wtf												UMLS:C3887896|MedDRA:10052381|Orphanet:101958|NCIT:C113172																		owl:Class
MONDO:0001459	biolink:NamedThing	radial neuropathy	Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.	mondoexuq1wtf	radial nerve peripheral neuropathy|peripheral neuropathy of radial nerve											SCTID:16644004|DOID:12171|UMLS:C0748226|MESH:D020425																		owl:Class
MONDO:0001397	biolink:NamedThing	mononeuropathy	Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.	mondoexuq1wtf												ICD10:G58.9|UMLS:C0494491|COHD:4134455|SCTID:128189008|DOID:1188|MESH:D020422																		owl:Class
MONDO:0016980	biolink:NamedThing	ATR-X-related syndrome		mondoexuq1wtf												UMLS:CN202282|Orphanet:263355																		owl:Class
MONDO:0003989	biolink:NamedThing	polyembryoma of the ovary	A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.	mondoexuq1wtf	ovarian polyembryoma|polyembryoma											NCIT:C39990|UMLS:C1514199|ONCOTREE:OPE|DOID:6774																		owl:Class
MONDO:0016096	biolink:NamedThing	malignant non-dysgerminomatous germ cell tumor of ovary	A malignant germ cell tumor other than dysgerminoma that arises from the ovary.	mondoexuq1wtf	ovarian non-dysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary|ovarian Nondysgerminomatous germ cell tumor											ICD10:C56|UMLS:C3640983|NCIT:C102870|Orphanet:206538|UMLS:CN200863																		owl:Class
MONDO:0031009	biolink:NamedThing	Glanzmann thrombasthenia 2		mondoexuq1wtf	bleeding disorder, platelet-type, 23|GT2											OMIM:619267																		owl:Class
MONDO:0100326	biolink:NamedThing	Glanzmann thrombasthenia		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:273800																		owl:Class
MONDO:0009224	biolink:NamedThing	fetal iodine syndrome	Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	mondoexuq1wtf	fetal iodine deficiency disorder|endemic cretinism|FIDD											OMIM:228355|ICD10:P72.2|GARD:0002304|UMLS:C4273860|Orphanet:1910|SCTID:718228001														https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome				owl:Class
MONDO:0019944	biolink:NamedThing	Eisenmenger syndrome	Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.	mondoexuq1wtf	Eisenmenger's syndrome											ICD10:I27.2|MedDRA:10058554|NCIT:C84390|GARD:0006323|MESH:D004541|SCTID:445928005|Orphanet:97214|UMLS:C0013743														https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome				owl:Class
MONDO:0017152	biolink:NamedThing	pulmonary arterial hypertension associated with congenital heart disease	Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.	mondoexuq1wtf	PAH associated with congenital heart disease											SCTID:697905000|ICD9:416.8|UMLS:C3697119|ICD10:I27.2|Orphanet:275803|UMLS:CN243982|EFO:0009054																		owl:Class
MONDO:0001648	biolink:NamedThing	esophageal candidiasis	Esophagitis resulting from Candida.	mondoexuq1wtf	esophageal thrush|Candida esophagitis|esophageal moniliasis|candidal esophagitis|candidiasis of the esophagus											ICD9:112.84|NCIT:C27027|ICD10:B37.81|UMLS:C0239295|SCTID:20639004|DOID:13146																		owl:Class
MONDO:0008258	biolink:NamedThing	platelet signal processing defect		mondoexuq1wtf	platelet signal processing defect											OMIM:173590|MESH:C566796|UMLS:C1868199																		owl:Class
MONDO:0012637	biolink:NamedThing	COG1-CDG	COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.	mondoexuq1wtf	congenital disorder of glycosylation type IIg|CDG2G|CDG syndrome type IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome|CDG IIg|congenital disorder of glycosylation, type IIg|CDG 2G|carbohydrate deficient glycoprotein syndrome type IIg|CDG-IIg|congenital disorder of glycosylation type 2g|COG1-CDG (CDG-IIg)											OMIM:611209|DOID:0070259|ICD10:E77.8|MESH:C535756|SCTID:718750004|GARD:0010226|Orphanet:263508																		owl:Class
MONDO:0005048	biolink:NamedThing	pancreatic insulin-producing neuroendocrine tumor	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.	mondoexuq1wtf	pancreatic insulin producing tumor|beta cell neoplasm|pancreatic insulin producing neoplasm|insulin-producing tumor of islet cells|Beta cell tumor of pancreas|Beta cell tumor of the pancreas|pancreatic insulin-producing tumor|insulin-producing islet cell tumor|beta cell tumor of the pancreas|pancreatic Beta cell tumor|pancreatic insulin producing NET|insulin-producing tumor of the islet cells|pancreatic insulin-producing neuroendocrine tumor|Beta cell tumor											NCIT:C3140|ICDO:8151/1|ICDO:8151/0|Orphanet:97279																		owl:Class
MONDO:0019954	biolink:NamedThing	pancreatic neuroendocrine tumor	Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).	mondoexuq1wtf	islet cell tumor|well-differentiated pancreatic NEN|well differentiated pancreatic endocrine tumor|PANET|islet cell tumors - pancreas|well-differentiated pancreatic neuroendocrine neoplasm|neuroendocrine tumor of pancreas|pancreatic NET|pancreatic neuroendocrine tumor|well-differentiated neuroendocrine neoplasm of pancreas|pancreatic endocrine tumor|islet cell tumors of the pancreas|well-differentiated NEN of pancreas|well differentiated pancreatic endocrine neoplasm											NCIT:C27720|Orphanet:97253|EFO:1000045|GARD:0013034|ONCOTREE:PANET|ICDO:8150/1|ICD10:E16.8																		owl:Class
MONDO:0014201	biolink:NamedThing	developmental and epileptic encephalopathy, 18		mondoexuq1wtf	epileptic encephalopathy, early infantile, type 18|epileptic encephalopathy, early infantile, 18|early infantile epileptic encephalopathy without suppression burst|EIEE18|DEE18											UMLS:C3809624|OMIM:615476|Orphanet:369894|ICD10:G40.4|DOID:0080413																		owl:Class
MONDO:0020071	biolink:NamedThing	infantile epilepsy syndrome	A epilepsy syndrome that occurs between 28 days to one year of life..	mondoexuq1wtf	infantile onset epilepsy syndrome|epilepsy syndrome of infancy					This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						UMLS:CN206975|Orphanet:98258|ICD10:G40.4														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0002730	biolink:NamedThing	childhood kidney neoplasm	A kidney neoplasm that occurs during childhood.	mondoexuq1wtf	childhood renal neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm|pediatric kidney neoplasm|pediatric renal tumor|childhood kidney tumor|kidney neoplasm|pediatric renal neoplasm|childhood renal tumor|pediatric kidney tumor											NCIT:C6563|DOID:3675|UMLS:C1333003																		owl:Class
MONDO:0021163	biolink:NamedThing	kidney neoplasm	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.	mondoexuq1wtf	neoplasm of the kidney|renal tumor|tumor of kidney|kidney neoplasm|kidney tumor|renal neoplasm|tumor of the kidney|neoplasm of kidney|renal tumors|kidney neoplasm (disease)											SCTID:126880001|ICD9:239.5|ONCOTREE:KIDNEY|NCIT:C3150																		owl:Class
MONDO:0003265	biolink:NamedThing	adjustment disorder	A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.	mondoexuq1wtf	adjustment reaction|disorders, adjustment|adjustment disease|disorders, reactive|adaptation reaction|disorder, reactive|disorder, adjustment|adjustment disorder											DOID:507|ICD9:309.89|SCTID:17226007|COHD:436677|ICD9:309|ICD9:309.9|NCIT:C92191|MESH:D000275																		owl:Class
MONDO:0007000	biolink:NamedThing	Treponema infectious disease	An disease caused by infection with Treponema.	mondoexuq1wtf	infections, Treponemal|infection, Treponemal|Bejels|Treponemal infection|bejel|Treponema disease or disorder|Treponema caused disease or disorder											MESH:D014211|GARD:0007798|NCIT:C85197|EFO:1001217																		owl:Class
MONDO:0011397	biolink:NamedThing	autosomal dominant cerebellar ataxia, deafness and narcolepsy	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	mondoexuq1wtf	autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|ADCADN|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|ADCA-DN syndrome|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|ADCA-DN											OMIM:604121|GARD:0012372|UMLS:CN203753|DOID:0050968|Orphanet:314404														https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy				owl:Class
MONDO:0010581	biolink:NamedThing	diabetes insipidus, nephrogenic, X-linked		mondoexuq1wtf	Ndi|diabetes insipidus, nephrogenic, type 1|diabetes insipidus, nephrogenic, X-linked											OMIM:304800|UMLS:C1563705																		owl:Class
MONDO:0000387	biolink:NamedThing	hypochromic microcytic anemia	Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).	mondoexuq1wtf	hypochromic microcytic anemia (disease)|hypochromic microcytic anemia		hypochromic microcytic anemia (disease)									MESH:C536357|SCTID:44666001|DOID:0050642|UMLS:C0271901|HP:0004840																		owl:Class
MONDO:0001245	biolink:NamedThing	microcytic anemia	Anemia in which the red blood cell volume is decreased.	mondoexuq1wtf												HP:0001935|NCIT:C35141|DOID:11252|SCTID:234349007																		owl:Class
MONDO:0019411	biolink:NamedThing	genochondromatosis type 1	Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.	mondoexuq1wtf												Orphanet:85197|ICD10:Q78.4																		owl:Class
MONDO:0007653	biolink:NamedThing	genochondromatosis		mondoexuq1wtf	genochondromatosis											UMLS:C1300229|MESH:C563215|GARD:0010621|OMIM:137360|SCTID:389264005														https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis				owl:Class
MONDO:0002244	biolink:NamedThing	factor VII deficiency	A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.	mondoexuq1wtf	deficiency, stable|factor 7 deficiency|F7 deficiency|factor VII deficiency											UMLS:C0015503|SCTID:37193007|MESH:D005168|ICD9:286.3																		owl:Class
MONDO:0002242	biolink:NamedThing	coagulation protein disease	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	mondoexuq1wtf	coagulation factor deficiency|coagulation factor deficiency syndrome											DOID:2212|UMLS:C0600503|SCTID:86075001|MESH:D020147|NCIT:C27215																		owl:Class
MONDO:0012678	biolink:NamedThing	atrial fibrillation, familial, 5		mondoexuq1wtf	atrial fibrillation, familial, 5|ATFB5											UMLS:C1969099|OMIM:611494|MESH:C566932																		owl:Class
MONDO:0014325	biolink:NamedThing	pachyonychia congenita 4	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.	mondoexuq1wtf	pachyonychia congenita caused by mutation in KRT6B|KRT6B pachyonychia congenita|pachyonychia congenita 4|pachyonychia congenita type 4|PC4											OMIM:615728|UMLS:C3714949																		owl:Class
MONDO:0016471	biolink:NamedThing	pachyonychia congenita	Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.	mondoexuq1wtf	pachyonychia congenita syndrome|pachyonychia congenita type 1|PC|pachyonychia congenita, Jadassohn-Lewandowsky type|congenital pachyonychia|Jadassohn-Lewandowsky syndrome|Jackson-Lawler type pachyonychia congenita											DOID:0050449|ICD10:Q84.5|GARD:0010753|Orphanet:2309|UMLS:C0265334|OMIMPS:167200|MESH:D053549|NCIT:C84986														https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita				owl:Class
MONDO:0011964	biolink:NamedThing	DPAGT1-CDG	DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	mondoexuq1wtf	congenital disorder of glycosylation type Ij|carbohydrate deficient glycoprotein syndrome type Ij|CDG1J|CDG 1J|CDG-Ij|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation type 1j|CDG syndrome type Ij|congenital disorder of glycosylation, type Ij|CDGIj|CDG Ij|DPAGT1-CDG (CDG-Ij)											DOID:0080562|NCIT:C126874|OMIM:608093|MESH:C535748|GARD:0009837|ICD10:E77.8|Orphanet:86309|SCTID:725079003|UMLS:C2931004																		owl:Class
MONDO:0005106	biolink:NamedThing	lipoma	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.	mondoexuq1wtf	lipomatous neoplasm|benign tumor of adipose tissue|lipomatous tumor|multiple lipomatosis|lipoma, benign|lipomatosis, familial multiple|lipomatous neoplasm (morphologic abnormality)|lipoma											ICD10:D17.9|DOID:3315|MESH:D008067|UMLS:C0023798|COHD:440358|ICD9:214|ICD10:D17|NCIT:C3192|ICD9:214.9|EFO:0000759|ICDO:8850/0|SCTID:93163002																		owl:Class
MONDO:0044983	biolink:NamedThing	benign lipomatous neoplasm	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.	mondoexuq1wtf	benign neoplasm of the adipose tissue|adipose tissue benign connective and soft tissue neoplasm|benign connective and soft tissue neoplasm of adipose tissue|benign lipomatous tumor|benign adipose tissue tumor|benign neoplasm of adipose tissue|benign tumor of adipose tissue|benign lipomatous neoplasm|benign adipose tissue neoplasm|benign tumor of the adipose tissue											NCIT:C4502																		owl:Class
MONDO:0008061	biolink:NamedThing	nail-patella syndrome	Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	mondoexuq1wtf	NPS|hereditary Osteo-onychodysplasia|nail-patella syndrome|Fong disease|Turner-Kieser syndrome|hereditary onychoostedysplasia|iliac horn syndrome|Arthro-onychodysplasia|nail patella syndrome|Osteo-onychodysplasia|Onychoosteodysplasia|Nps1|NPS 1|Turner-Kiser syndrome											Orphanet:2614|ICD9:759.89|NCIT:C75120|MESH:D009261|SCTID:22199006|ICD10:Q87.2|DOID:9467|MedDRA:10063431|GARD:0007160|OMIM:161200|UMLS:C0027341														https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome				owl:Class
MONDO:0010592	biolink:NamedThing	focal dermal hypoplasia	Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.	mondoexuq1wtf	Goltz-Gorlin syndrome|focal dermal hypoplasia|Fodh|FDH|Goltz Gorlin syndrome|DHOF|Goltz syndrome											MESH:D005489|Orphanet:2092|ICD10:Q82.8|DOID:2120|UMLS:C0016395|OMIM:305600|NCIT:C84715|ICD9:757.39|GARD:0006457|SCTID:205573006																		owl:Class
MONDO:0007677	biolink:NamedThing	hyperglycinuria		mondoexuq1wtf	hyperglycinuria (disease)|Iminoglycinuria type 2|Glycinuria with or without oxalate nephrolithiasis|hyperglycinuria|Glycinuria with or without oxalate urolithiasis		hyperglycinuria (disease)									HP:0003108|UMLS:C0543541|OMIM:138500|MESH:C563009																		owl:Class
MONDO:0004017	biolink:NamedThing	pineal region immature teratoma		mondoexuq1wtf	pineal area immature teratoma|immature teratoma of pineal region|immature teratoma of the pineal region|immature teratoma of pineal area|atypical pineal teratoma|immature teratoma of the pineal area											NCIT:C6755|UMLS:C1335416|DOID:6858																		owl:Class
MONDO:0002073	biolink:NamedThing	malignant pineal area germ cell neoplasm	A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.	mondoexuq1wtf	malignant germ cell tumor of pineal parenchyma|malignant germ cell tumor of pineal gland|malignant pineal area germ cell tumor|malignant pineal parenchymal germ cell neoplasm|malignant germ cell neoplasm of the pineal parenchyma|pineal region germ cell tumor|malignant germ cell tumor of the pineal parenchyma|pineal region germinoma|pineal germ cell neoplasm, malignant|malignant pineal parenchymal germ cell tumor|malignant pineal gland germ cell neoplasm|pineal cell tumour|malignant pineal region germ cell tumor|pineal germ cell tumor|malignant germ cell neoplasm of pineal parenchyma|malignant germ cell neoplasm of pineal gland|malignant pineal gland germ cell tumor|malignant germ cell tumor of the pineal gland|malignant germ cell neoplasm of the pineal gland|pineal cell tumor|malignant pineal region germ cell neoplasm											NCIT:C6767|UMLS:C0349621|SCTID:277508009|ICD9:239.7|DOID:1660|UMLS:C1334612|GARD:0012017																		owl:Class
MONDO:0005410	biolink:NamedThing	acute graft vs. host disease	Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft.	mondoexuq1wtf						Editor note: consider merging with parent						EFO:0004599																		owl:Class
MONDO:0013730	biolink:NamedThing	graft versus host disease	Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.	mondoexuq1wtf	diseases, graft-versus-host|diseases, graft-VS-host|graft-VS-host disease|graft-versus-host diseases|graft-versus-host-disease|GVHDS|GVHD|GVH|disease, homologous wasting|disease, graft-VS-host|graft-VS-host diseases|disease, graft-versus-host|disease, runt|graft versus host disease|graft VS host disease|graft-versus-host disease, resistance to|graft-versus-host disease|graft-versus-host disease, susceptibility to|runt disease|homologous wasting disease|graft VS. host disease											COHD:443216|NCIT:C3063|ICD9:279.50|UMLS:C0018133|MESH:D006086|MedDRA:10018651|ICD10:T86.0|Orphanet:39812|OMIM:614395|SCTID:234646005																		owl:Class
MONDO:0017221	biolink:NamedThing	Pelizaeus-Merzbacher disease, connatal form	The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.	mondoexuq1wtf	connatal PMD|Pelizaeus-Merzbacher disease type II|severe PMD											Orphanet:280210|UMLS:CN202703|ICD10:E75.2																		owl:Class
MONDO:0010714	biolink:NamedThing	Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.	mondoexuq1wtf	Pelizaeus-Merzbacher brain sclerosis|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher disease|leukodystrophy, hypomyelinating, 1|HLD1|leukodystrophy, sudanophilic|Pelizaeus Merzbacher brain sclerosis|PMD|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus-Merzbacher disease|diffuse familial brain sclerosis|hypomyelinating leukodystrophy 1											DOID:3210|ICD10:E75.2|MESH:D020371|SCTID:64855000|NCIT:C75487|OMIM:312080|UMLS:C0205711|GARD:0004265|MedDRA:10067610|Orphanet:702														https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease				owl:Class
MONDO:0007059	biolink:NamedThing	acrorenal syndrome	Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	mondoexuq1wtf	acrorenal syndrome											SCTID:720458005|UMLS:C3495490|OMIM:102520|ICD10:Q87.2|Orphanet:971|UMLS:CN206860|DOID:0060347|MESH:C563159																		owl:Class
MONDO:0008849	biolink:NamedThing	atrophoderma vermiculata		mondoexuq1wtf	honeycomb atrophy|Atrophodermia reticulata|Atrophodermia vermiculata|atrophoderma vermiculatum|ava|atrophoderma vermiculata|folliculitis ulerythematosa|folliculitis ulerythematosa reticulate|folliculitis ulerythematosa reticulata|Atrophodermia reticulata symmetrica faciei											GARD:0009744|SCTID:2736005|Orphanet:79100|ICD10:L66.4|OMIM:209700|ICD9:701.8														https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata				owl:Class
MONDO:0018855	biolink:NamedThing	keratosis pilaris atrophicans	An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.	mondoexuq1wtf	KPA|ulerythema ophryogenes|folliculitis ulerythematosa reticulata|Atrophodermia reticulata symmetrica faciei|keratosis pilaris atrophicans facies|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|honeycomb atrophy|Atrophodermia reticulata|Atrophodermia vermiculata|keratosis pilaris|keratosis pilaris atrophicans|folliculitis ulerythematosa|ulerythema ophryogenes with multiple congenital anomalies|burnett Schwartz Berberian syndrome|ulerythema ophryogenesis											OMIM:604093|ICD9:757.39|Orphanet:498|ICD10:L85.8|MESH:C537412|GARD:0001042|SCTID:400059005														https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome				owl:Class
MONDO:0005767	biolink:NamedThing	gas gangrene	A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.	mondoexuq1wtf	gas bacillus infection|myonecrosis|gas gangrene											DOID:9159|MESH:D005738|SCTID:80466000|ICD9:040.0|COHD:433696|EFO:0007279|UMLS:C0017105|ICD10:A48.0																		owl:Class
MONDO:0023149	biolink:NamedThing	infection due to clostridium perfringens		mondoexuq1wtf	Infections, Clostridium perfringens|Clostridium perfringens Infections|Infection caused by Clostridium perfringens|Clostridium perfringens Infection|Clostridium perfringens infection|C. perfringens infection|Infection, Clostridium perfringens|Infection due to Clostridium perfringens											GARD:0011970|UMLS:C0275619|SCTID:65154009																		owl:Class
MONDO:0018261	biolink:NamedThing	Nevada syndrome	NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	mondoexuq1wtf	Nevus epidermicus verrucosus with angiodysplasia and aneurysms											UMLS:CN204836|ICD10:Q84.8|Orphanet:370059																		owl:Class
MONDO:0017879	biolink:NamedThing	hantavirus pulmonary syndrome	An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.	mondoexuq1wtf	Hantavirus-associated respiratory distress syndrome|HARDS|Hantavirus|four corners hantavirus											MESH:D018804|ICD10:B33.4+|GARD:0000069|MedDRA:10019143|UMLS:C0243025|ICD10:J17.1*|Orphanet:319247|SCTID:120639003|DOID:14472|NCIT:C84747|EFO:0007296|ICD9:480.8																		owl:Class
MONDO:0020087	biolink:NamedThing	genetic lipodystrophy	Genetic lipodystrophy.	mondoexuq1wtf	genetic lipodystrophy (disease)|genetic lipodystrophy											UMLS:C4511302|SCTID:724841000|Orphanet:98305|ICD10:E88.1																		owl:Class
MONDO:0015233	biolink:NamedThing	caudal appendage-deafness syndrome	Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	mondoexuq1wtf	caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|Lynch Lee Murday syndrome|caudal appendage deafness|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|Lynch-Lee-Murday syndrome											GARD:0001163|UMLS:C2931593|Orphanet:1123|MESH:C537713|SCTID:726621009														https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness				owl:Class
MONDO:0015463	biolink:NamedThing	craniodigital syndrome-intellectual disability syndrome	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	mondoexuq1wtf	Scott craniodigital syndrome|craniodigital syndrome with mental retardation|craniodigital syndrome with intellectual disability|Scott Bryant Graham syndrome|Scott-Bryant-Graham syndrome|craniodigital syndrome-mental retardation, Scott type|Scott craniodigital syndrome with mental retardation|craniodigital-intellectual disability syndrome|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome-intellectual disability, Scott type											SCTID:763665007|ICD10:Q87.0|MESH:C537528|GARD:0004776|UMLS:C1839311|Orphanet:1514														https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome				owl:Class
MONDO:0010771	biolink:NamedThing	histiocytoid cardiomyopathy	Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.	mondoexuq1wtf	infantile cardiomyopathy with histiocytoid change|cardiomyopathy, oncocytic|infantile histiocytoid cardiomyopathy|infantile xanthomatous cardiomyopathy|cardiomyopathy, focal Lipid|Purkinje cell hamartoma|cardiomyopathy, infantile histiocytoid|isolated Cardiac lipidosis|Arachnocytosis of the myocardium|focal lipid cardiomyopathy|foamy myocardial transformation of infancy|oncocytic cardiomyopathy|histiocytoid cardiomyopathy|cardiomyopathy, infantile xanthomatous|myocardial hamartoma|congenital cardiomyopathy											MESH:C535584|ICD10:I42.0|UMLS:CN239812|OMIM:500000|UMLS:C1708371|Orphanet:137675|NCIT:C45745|GARD:0009511|DOID:0080198														https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy				owl:Class
MONDO:0016335	biolink:NamedThing	mitochondrial disease with dilated cardiomyopathy		mondoexuq1wtf												Orphanet:217613|UMLS:CN201166																		owl:Class
MONDO:0020249	biolink:NamedThing	hereditary optic neuropathy		mondoexuq1wtf												Orphanet:98671|MedDRA:10061323																		owl:Class
MONDO:0004210	biolink:NamedThing	colonic L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	mondoexuq1wtf	colon L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor											UMLS:C3274139|NCIT:C27447|DOID:7401																		owl:Class
MONDO:0004211	biolink:NamedThing	L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	mondoexuq1wtf	L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide producing tumor											UMLS:C3274140|NCIT:C27448|DOID:7402|ICDO:8152/1																		owl:Class
MONDO:0014611	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 4	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.	mondoexuq1wtf	ISCA2 fatal multiple mitochondrial dysfunctions syndrome|MMDS4|multiple mitochondrial dysfunctions syndrome type 4|multiple mitochondrial dysfunctions syndrome 4|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2											UMLS:C4225348|OMIM:616370|DOID:0080136|Orphanet:457406																		owl:Class
MONDO:0043257	biolink:NamedThing	pemphigus and fogo selvagem		mondoexuq1wtf	FS|amendola's syndrome|wildfire pemphigus|wild fire|fogo selvagem|South American pemphigus|endemic pemphigus foliaceus|Brazilian pemphigus|Brazilian pemphigus foliaceus											UMLS:C0263314|HGNC:3048|MESH:C535551|SCTID:46459009|GARD:0007353																		owl:Class
MONDO:0006594	biolink:NamedThing	pemphigus	Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus	mondoexuq1wtf												ICD10:L10.9|COHD:135338|ICD10:L10|GARD:0007352|ICD9:694.4|NCIT:C34909|UMLS:C0030807|MESH:D010392|Wikipedia:Pemphigus|DOID:9182|EFO:1000749|SCTID:65172003														https://rarediseases.info.nih.gov/diseases/7352/pemphigus				owl:Class
MONDO:0016479	biolink:NamedThing	silver-Russell syndrome due to 7p11.2p13 microduplication		mondoexuq1wtf	Silver-Russell syndrome due to trisomy 7p11.2p13|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to dup(7)(p11.2p13)											Orphanet:231137|ICD10:Q87.1|UMLS:CN201474																		owl:Class
MONDO:0016944	biolink:NamedThing	partial duplication of the short arm of chromosome 7	Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	trisomy 7p|partial duplication of the short arm of chromosome type 7|partial trisomy of chromosome 7p|chromosome 7p duplication|partial duplication of chromosome 7p|partial trisomy 7p|partial trisomy of the short arm of chromosome 7|7p duplication|7p trisomy|Duplication 7p											MESH:C537819|Orphanet:262749|UMLS:C0795820|GARD:0005355																		owl:Class
MONDO:0020061	biolink:NamedThing	chromosome Y structural anomaly		mondoexuq1wtf												Orphanet:98158|ICD10:Q98.6																		owl:Class
MONDO:0020060	biolink:NamedThing	gonosome structural anomaly		mondoexuq1wtf	Sex-chromosome structural anomaly											Orphanet:98157																		owl:Class
MONDO:0012547	biolink:NamedThing	Noonan syndrome 4	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.	mondoexuq1wtf	Noonan syndrome type 4|SOS1 Noonan syndrome|Noonan syndrome 4|Noonan syndrome caused by mutation in SOS1|NS4|SOS1 gene related Noonan syndrome											GARD:0010699|OMIM:610733|DOID:0060582|MESH:C548082|UMLS:C1853120														https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4				owl:Class
MONDO:0018997	biolink:NamedThing	Noonan syndrome	Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.	mondoexuq1wtf	Turner's phenotype, karyotype normal|pseudo-Ullrich-Turner syndrome|Noonan syndrome|Ullrich-Noonan syndrome|Noonan-Ehmke syndrome|Noonan's syndrome											NCIT:C34854|ICD10:Q87.1|ICD9:759.89|SCTID:205824006|UMLS:C0028326|GARD:0010955|MESH:D009634|Orphanet:648|MedDRA:10029748|OMIMPS:163950|DOID:3490																		owl:Class
MONDO:0014218	biolink:NamedThing	severe dermatitis-multiple allergies-metabolic wasting syndrome		mondoexuq1wtf	congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|severe dermatitis, multiple allergies, and metabolic wasting syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE|SAM syndrome|Sam syndrome|EPKHE											ICD10:Q82.8|OMIM:615508|UMLS:C3809719|Orphanet:369992																		owl:Class
MONDO:0018037	biolink:NamedThing	hyper-IgE syndrome	A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.	mondoexuq1wtf	HIES|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E syndrome											OMIMPS:147060|ICD10:D82.4|NCIT:C3144|GARD:0010956|DOID:0080545|UMLS:CN204280|Orphanet:331223																		owl:Class
MONDO:0007539	biolink:NamedThing	encephalopathy, recurrent, of childhood		mondoexuq1wtf	encephalopathy recurrent of childhood|encephalopathy, recurrent, of childhood|Neuhauser Eichner Opitz syndrome											Orphanet:2672|MESH:C536407|GARD:0002117|OMIM:130950														https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood				owl:Class
MONDO:0011146	biolink:NamedThing	tetrasomy 12p	Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.	mondoexuq1wtf	Teschler-Nicola Killian syndrome|Hexasomy 12P, Mosaic|Killian syndrome|Isochromosome 12P syndrome|tetrasomy 12P, Mosaic|PKS|Pallister-Killian syndrome|Isochromosome 12p syndrome|Isochromosome 12p mosaicism|chromosome 12, Isochromosome 12p syndrome|Pallister mosaic syndrome|Pallister Killian syndrome|Killian Teschler-Nicola syndrome|Pallister-Killian mosaic syndrome|tetrasomy type 12p											Orphanet:884|UMLS:C0265449|ICD9:758.81|ICD10:Q99.8|OMIM:601803|GARD:0008421|SCTID:9527009|MESH:C538105|NCIT:C75458																		owl:Class
MONDO:0017364	biolink:NamedThing	POEMS syndrome	POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.	mondoexuq1wtf	polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|POEMS syndrome|osteosclerotic myeloma|PEP syndrome|polyneuropathy organomegaly|Crow-Fukase syndrome|Takatsuki syndrome|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome					POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease.						SCTID:79268002|UMLS:C0085404|GARD:0007411|NCIT:C80303|EFO:1001115|Orphanet:2905|DOID:14039|MedDRA:10053869|MESH:D016878|ICD10:D47.7																		owl:Class
MONDO:0016180	biolink:NamedThing	hematological disease associated with an acquired peripheral neuropathy		mondoexuq1wtf						Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease						UMLS:CN200930|Orphanet:209016																		owl:Class
MONDO:0016824	biolink:NamedThing	infantile myofibromatosis	A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	mondoexuq1wtf	infantile myofibromatosis|infantile hemangiopericytoma|myofibromatosis|multicentric myofibromatosis|IMS											ICD10:D48.1|UMLS:C0206648|DOID:0080109|NCIT:C3742|GARD:0002998|Orphanet:2591|MESH:D018224|ICDO:8824/1|ONCOTREE:IMS|OMIMPS:228550														https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis				owl:Class
MONDO:0003828	biolink:NamedThing	growth hormone-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.	mondoexuq1wtf	malignant Growth hormone secreting tumor of pituitary|malignant Growth hormone producing neoplasm of the pituitary gland|malignant pituitary gland Somatotrophinoma|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone producing pituitary neoplasm|malignant Growth hormone secreting neoplasm of pituitary gland|malignant somatotropinoma of pituitary gland|malignant pituitary somatotropinoma|malignant Somatotrophinoma of the pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone producing neoplasm of the pituitary|malignant Growth hormone producing tumor of the pituitary|malignant pituitary Somatotrophinoma|malignant Growth hormone producing tumor|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone secreting tumor of the pituitary|malignant Growth hormone secreting tumor of pituitary gland|malignant somatotropinoma|malignant Growth hormone producing pituitary gland tumor|malignant somatotropinoma of pituitary|malignant Growth hormone producing neoplasm of pituitary gland|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting pituitary tumor|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone producing pituitary gland neoplasm|malignant Growth hormone producing tumor of the pituitary gland|Growth hormone-producing pituitary gland carcinoma|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone secreting pituitary neoplasm|malignant pituitary gland somatotropinoma|malignant somatotropinoma of the pituitary|malignant Growth hormone producing pituitary tumor|malignant somatotropinoma of the pituitary gland|malignant Growth hormone producing tumor of pituitary gland|malignant Somatotrophinoma of pituitary											DOID:6256|NCIT:C5963|UMLS:C1334587																		owl:Class
MONDO:0006285	biolink:NamedThing	major salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	mondoexuq1wtf	major salivary gland salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the Major salivary gland|carcinoma ex pleomorphic adenoma of Major salivary gland|major salivary gland carcinoma ex pleomorphic adenoma											EFO:1000345|UMLS:C1334550|NCIT:C5975																		owl:Class
MONDO:0006284	biolink:NamedThing	major salivary gland carcinoma	A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.	mondoexuq1wtf	major salivary gland carcinoma|carcinoma of Major salivary gland|carcinoma of major salivary gland|major salivary gland cancer|carcinoma of the Major salivary gland											EFO:1000344|NCIT:C5907|UMLS:C1334549																		owl:Class
MONDO:0010206	biolink:NamedThing	hypotrichosis 8	Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.	mondoexuq1wtf	HYPT8|LPAR6 hypotrichosis|woolly hair, autosomal recessive 1, with or without hypotrichosis|LAH3|hypotrichosis 8|hypotrichosis caused by mutation in LPAR6|hypotrichosis, localized, autosomal recessive 3|hypotrichosis type 8											DOID:0110705|OMIM:278150|UMLS:C3279470|MESH:C566950																		owl:Class
MONDO:0009963	biolink:NamedThing	Ulbright-Hodes syndrome	Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.	mondoexuq1wtf	renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|renal dysplasia-mesomelia-radiohumeral fusion syndrome|RL syndrome|renal dysplasia, mesomelia, and radiohumeral fusion|renal dysplasia-limb defects syndrome											UMLS:C1849438|SCTID:719840003|MESH:C537754|ICD10:Q87.8|GARD:0005394|OMIM:266910|Orphanet:3404																		owl:Class
MONDO:0100057	biolink:NamedThing	food-dependent exercise-induced anaphylaxis	A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.	mondoexuq1wtf					2018-08-15 17:55:08+00:00																					https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis				owl:Class
MONDO:0100056	biolink:NamedThing	exercise-induced anaphylaxis	A rare disorder in which anaphylaxis occurs in association with physical activity.	mondoexuq1wtf	EIAn				2018-08-15 17:51:10+00:00																					https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis				owl:Class
MONDO:0035398	biolink:NamedThing	hypomyelination of early myelinating structures		mondoexuq1wtf	HEMS											Orphanet:599376														https://github.com/monarch-initiative/mondo/issues/3544				owl:Class
MONDO:0009425	biolink:NamedThing	hypomandibular faciocranial dysostosis	Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.	mondoexuq1wtf	hypomandibular faciocranial dysostosis											GARD:0002907|ICD10:Q75.4|SCTID:721845005|OMIM:241310|MESH:C537154|Orphanet:1790														https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis				owl:Class
MONDO:0012157	biolink:NamedThing	congenital myasthenic syndrome 4C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	mondoexuq1wtf	myasthenic syndrome, congenital, type Id|Cms Id, formerly|CMS Id|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 4C|CMS4C|myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type Id|CMS1D|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|FIM1|myasthenia, familial infantile, 1, formerly|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|Cms Id|familial infantile myasthenia 1|myasthenia, familial infantile, 1											DOID:0110679|OMIM:608931|GARD:0010108																		owl:Class
MONDO:0016258	biolink:NamedThing	uterine corpus carcinofibroma	An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.	mondoexuq1wtf	Carcinofibroma of the corpus uteri|uterine corpus Carcinofibroma											ICD10:C54.8|ICD10:C54.3|Orphanet:213605|ICD10:C54.2|ICD10:C54.1|UMLS:C1883485|NCIT:C40182|ICD10:C54.0|ICDO:8934/3																		owl:Class
MONDO:0002879	biolink:NamedThing	uterine body mixed cancer	A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.	mondoexuq1wtf	malignant mixed neoplasm of uterine body|malignant corpus uteri mixed tumor|malignant uterine body mixed tumor|malignant mixed tumor of corpus uteri|malignant mixed tumor of body of uterus|malignant mixed tumor of uterine body|malignant body of uterus mixed tumor|malignant mixed neoplasm of the body of uterus|malignant corpus uteri mixed neoplasm|malignant mixed neoplasm of the uterine body|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of uterine corpus|malignant body of uterus mixed neoplasm|malignant mixed tumor of uterine corpus|malignant mixed tumor of the uterine body|malignant uterine body mixed neoplasm|malignant mixed neoplasm of the uterine corpus|malignant mixed neoplasm of the corpus uteri|malignant mixed tumor of the corpus uteri|malignant uterine corpus mixed tumor|malignant mixed tumor of the body of uterus|malignant mixed neoplasm of corpus uteri|malignant mixed tumor of the uterine corpus											DOID:4114|NCIT:C6311|UMLS:C1334628																		owl:Class
MONDO:0020117	biolink:NamedThing	alpha granule disease		mondoexuq1wtf												Orphanet:98455|ICD10:D69.1|UMLS:CN207009																		owl:Class
MONDO:0016361	biolink:NamedThing	isolated hereditary giant platelet disorder		mondoexuq1wtf	isolated hereditary macrothrombocytopenia|isolated inherited giant platelet disorder|isolated inherited macrothrombocytopenia											Orphanet:220452|ICD10:D69.1|UMLS:CN226911																		owl:Class
MONDO:0000775	biolink:NamedThing	drug allergy	Immunologically mediated adverse reactions to medicinal substances used legally or illegally.	mondoexuq1wtf	allergy of exposure to drug|exposure to drug allergic disease											MESH:D004342|COHD:439224|DOID:0060500																		owl:Class
MONDO:0008853	biolink:NamedThing	Barber-Say syndrome	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.	mondoexuq1wtf	hypertrichosis atrophic skin ectropion macrostomia|BBRSAY|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|Bss|hypertrichosis, atrophic skin, ectropion, and macrostomia|Barber-Say syndrome|BARBER-SAY syndrome|Barber Say syndrome											DOID:0060549|Orphanet:1231|MESH:C537908|UMLS:C1319466|OMIM:209885|SCTID:408537003|ICD10:Q87.0|GARD:0000819														https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome				owl:Class
MONDO:0018373	biolink:NamedThing	avascular necrosis	Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.	mondoexuq1wtf	AVN|avascular necrosis of bone											ICD10:M87.9|ICD10:M87.0|ICD10:M87.1|ICD10:M87.8|Orphanet:399164|ICD10:M87.3|SCTID:397758007|ICD10:M87.2|NCIT:C34841																		owl:Class
MONDO:0020695	biolink:NamedThing	hypotonic cerebral palsy	A type of cerebral palsy characterized by decreased muscle tone.	mondoexuq1wtf	hypotonic cerebral palsy											NCIT:C116906|SCTID:192958009																		owl:Class
MONDO:0006497	biolink:NamedThing	cerebral palsy	A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.	mondoexuq1wtf	infantile cerebral palsy											ICD9:343.9|NCIT:C34460|SCTID:128188000|MESH:D002547|COHD:4134120|ICD10:G80.9|UMLS:C0007789|ICD10:G80|HP:0100021|GARD:0010450|DOID:1969|EFO:1000632|ICD9:343.8|CSP:0723-4729																		owl:Class
MONDO:0004147	biolink:NamedThing	noninvasive malignant thymoma	A morphologically malignant thymoma that is entirely confined within the capsule.	mondoexuq1wtf	malignant thymoma, noninvasive|thymoma malignant noninvasive											DOID:7214|UMLS:C0278847|NCIT:C9080																		owl:Class
MONDO:0019672	biolink:NamedThing	fibular hemimelia	Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.	mondoexuq1wtf	congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia											Orphanet:93323|ICD10:Q72.6																		owl:Class
MONDO:0016240	biolink:NamedThing	hemimelia	Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.	mondoexuq1wtf	longitudinal meromelia											SCTID:33076008|ICD10:Q72.8|Orphanet:2130|ICD10:Q71.8|UMLS:C0018987|NCIT:C34674|MedDRA:10019464|ICD10:Q73.8																		owl:Class
MONDO:0004056	biolink:NamedThing	bladder papillary urothelial carcinoma	An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003	mondoexuq1wtf	urinary bladder papillary transitional cell carcinoma|bladder urothelial papillary carcinoma|bladder papillary urothelial carcinoma|urothelial papillary carcinoma of the bladder											NCIT:C7383|UMLS:C1518882|DOID:6975																		owl:Class
MONDO:0003442	biolink:NamedThing	bladder papillary urothelial neoplasm	A papillary epithelial neoplasm that involves the urinary bladder urothelium.	mondoexuq1wtf	urinary bladder papillary urothelial neoplasm|bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm|bladder papillary transitional cell neoplasm|urinary bladder papillary transitional cell neoplasm											NCIT:C39857|UMLS:C1511197|DOID:5432																		owl:Class
MONDO:0011786	biolink:NamedThing	allergic rhinitis	Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.	mondoexuq1wtf	seasonal allergic rhinitis|allergic rhinitis|atopic rhinitis|perennial allergic rhinitis|Alrh|pollenosis|Perenial allergic rhinitis|non-seasonal allergic rhinitis|allergic form of rhinitis											DOID:4481|HP:0003193|UMLS:C2607914|COHD:257007|ICD9:477.9|EFO:0005854|ICD9:477.8|OMIM:607154|SCTID:61582004|NCIT:C79532|ICD9:477																		owl:Class
MONDO:0017196	biolink:NamedThing	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.	mondoexuq1wtf	osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali-Nair syndrome|Al Gazali Sabrinathan Nair syndrome											GARD:0000587|ICD10:Q87.8|UMLS:CN202641|Orphanet:2773|SCTID:722110003|MESH:C535617														https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome				owl:Class
MONDO:0017824	biolink:NamedThing	familial isolated pituitary adenoma		mondoexuq1wtf	FIPA					Editor note: TODO check this						Orphanet:314777|UMLS:CN244420|UMLS:CN239192|OMIMPS:102200|ICD10:D35.2|SCTID:702375004																		owl:Class
MONDO:0024746	biolink:NamedThing	immature teratoma	A teratoma composed of immature, fetal-type tissues.	mondoexuq1wtf	immature teratoma|malignant teratoma|teratoma, malignant											NCIT:C4286|ICDO:9080/3																		owl:Class
MONDO:0015587	biolink:NamedThing	rolandic epilepsy-speech dyspraxia syndrome	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	mondoexuq1wtf												UMLS:CN199957|Orphanet:163721																		owl:Class
MONDO:0019268	biolink:NamedThing	epidermal disease	A skin disease that involves the epidermis.	mondoexuq1wtf	epidermal disease|rare epidermal disease											Orphanet:79353|UMLS:CN205920														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0008758	biolink:NamedThing	mitochondrial DNA depletion syndrome 4a	Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.	mondoexuq1wtf	Alpers Huttenlocher syndrome|progressive sclerosing poliodystrophy|Alpers progressive sclerosing poliodystrophy|progressive neuronal degeneration of childhood with liver disease|infantile poliodystrophy|mitochondrial DNA depletion syndrome type 4a|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|Alper syndrome|Alpers-Huttenlocher syndrome|Alpers syndrome|Alpers Huttenlocher disease|Poliodystrophia cerebri progressiva|AHS|Alpers disease|Alpers progressive infantile poliodystrophy|mitochondrial DNA depletion syndrome 4A|Alper's syndrome|mitochondrial DNA depletion syndrome 4A (Alpers type)|neuronal Degeneration of childhood with liver disease, progressive|progressive cerebral poliodystrophy|AHD|diffuse cerebral degeneration in infancy|Alpers' disease or gray-matter degeneration|MTDPS4A|PNDC											OMIM:203700|SCTID:20415001|DOID:1442|GARD:0005783|ICD10:G31.81|UMLS:C0205710|NCIT:C35257|DOID:0080122|ICD9:330.8|MedDRA:10062943|ICD10:G31.8|Orphanet:726																		owl:Class
MONDO:0016808	biolink:NamedThing	mitochondrial DNA depletion syndrome, hepatocerebral form		mondoexuq1wtf	mtDNA depletion syndrome, hepatocerebral form|deoxyguanosine kinase deficiency					Editor note: consider merging with MONDO:0014943						UMLS:C3711385|Orphanet:254871|MESH:C580039|UMLS:CN069134																		owl:Class
MONDO:0005602	biolink:NamedThing	ovarian teratoma	A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	mondoexuq1wtf	ovarian germ cell teratoma|ovarian teratoma|germ cell teratoma of the ovary|germ cell teratoma of ovary|teratoma of the ovary|teratoma of ovary											NCIT:C8110|UMLS:C0280131|SCTID:716077006|DOID:5567|EFO:0006463																		owl:Class
MONDO:0006233	biolink:NamedThing	gonadal teratoma	A teratoma that arises from the testis or ovary.	mondoexuq1wtf	gonadal teratoma|teratoma, gonads											EFO:1000282|UMLS:C3273942|NCIT:C98291																		owl:Class
MONDO:0011826	biolink:NamedThing	glucocorticoid deficiency 2	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.	mondoexuq1wtf	glucocorticoid deficiency 2|MRAP familial glucocorticoid deficiency|familial glucocorticoid deficiency 2|familial glucocorticoid deficiency caused by mutation in MRAP|GCCD2|glucocorticoid deficiency type 2											UMLS:C1846284|OMIM:607398|NCIT:C123728																		owl:Class
MONDO:0009034	biolink:NamedThing	craniofacial dyssynostosis	Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	mondoexuq1wtf	craniofacial dyssynostosis and short stature|craniosynostosis-craniofacial dysostosis syndrome|craniofacial dyssynostosis with short stature|bilateral lambdoid and sagittal synostosis											Orphanet:1516|OMIM:218350|MESH:C536455|UMLS:C1857511|ICD10:Q87.0|GARD:0001575														https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis				owl:Class
MONDO:0010557	biolink:NamedThing	choroideremia	Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.	mondoexuq1wtf	choroidal sclerosis|progressive choroidal atrophy|TCD|Tapetochoroidal dystrophy|CHM|choroideremia|Tapetochoroidal dystrophy, progressive|progressive tapetochoroidal dystrophy											MESH:D015794|ICD10:H31.21|GARD:0006061|UMLS:C0008525|Orphanet:180|NCIT:C34469|ICD10:H31.2|ICD9:363.55|DOID:9821|OMIM:303100|MedDRA:10008791|SCTID:75241009														https://rarediseases.info.nih.gov/diseases/6061/choroideremia				owl:Class
MONDO:0012107	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia		mondoexuq1wtf	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia											UMLS:C1837492|OMIM:608720|MESH:C563870																		owl:Class
MONDO:0014241	biolink:NamedThing	leukemia, acute lymphoblastic, susceptibility to, 3	Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.	mondoexuq1wtf	PAX5 precursor B-cell acute lymphoblastic leukemia|leukemia, acute lymphoblastic, susceptibility to, type 3|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|susceptibility to acute lymphoblastic leukemia 3|ALL3|leukemia, acute lymphoblastic, susceptibility to, 3											OMIM:615545|UMLS:C3809874																		owl:Class
MONDO:0020511	biolink:NamedThing	precursor B-cell acute lymphoblastic leukemia	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)	mondoexuq1wtf	B acute lymphoblastic leukemia|B-cell type acute leukemia|precursor B-lymphoblastic leukemia (B-precursor ALL)|acute B cell lymphocytic leukemia|precursor B-lymphoblastic leukemia|B-cell lymphoblastic leukemia|B-precursor ALL|B-cell precursor type acute leukemia|precursor B-cell acute lymphocytic leukemia|acute B-cell lymphocytic leukemia|B-cell Acute Lymphoblastic Leukemia|B-ALL|precursor B-cell acute lymphoblastic leukemia/lymphoma|B-cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|B cell acute lymphocytic leukemia|B-cell acute lymphoblastic leukemia|B cell precursor type acute leukemia											NCIT:C8644|ICD10:C83.5|ICD10:C91.0|Orphanet:99860|ICDO:9836/3																		owl:Class
MONDO:0009458	biolink:NamedThing	Schimke immuno-osseous dysplasia	Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.	mondoexuq1wtf	Schimke immunoosseous dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|Schimke syndrome|Schimke IMMUNOOSSEOUS dysplasia|spondyloepiphyseal dysplasia nephrotic syndrome|immunoosseous dysplasia Schimke type|SIOD|spondyloepiphyseal dysplasia - nephrotic syndrome|Schimke Immunoosseous dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type											MedDRA:10048699|MESH:C536629|UMLS:C0877024|ICD10:Q77.7|Orphanet:1830|OMIM:242900|NCIT:C135087|SCTID:723995003|GARD:0004984|DOID:0060490																		owl:Class
MONDO:0015708	biolink:NamedThing	immuno-osseous dysplasia		mondoexuq1wtf												Orphanet:169349|SCTID:254067002																		owl:Class
MONDO:0005729	biolink:NamedThing	dicrocoeliasis	Infection with flukes of the genus Dicrocoelium.	mondoexuq1wtf	Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder|disease due to Dicrocoeliidae|Dicrocoelium infectious disease											ICD9:121.8|UMLS:C0012102|EFO:0007234|UMLS:C1737210|ICD10:B66.2|DOID:1219|MESH:D004011|SCTID:105668007																		owl:Class
MONDO:0018523	biolink:NamedThing	pancreatic mucinous cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.	mondoexuq1wtf	colloid cystadenoma of pancreas|mucinous cystadenoma of pancreas|pancreatic colloid cystadenoma|colloidal cystadenoma of pancreas|mucinous cystadenoma of the pancreas|pancreas mucinous cystadenoma|mucinous cystadenocarcinoma of the pancreas|pancreatic colloidal cystadenoma|pancreatic mucinous cystadenoma|pancreatic mucinous cystadenocarcinoma|colloidal cystadenoma of the pancreas|colloid cystadenoma of the pancreas|pancreatic mucinous cystic neoplasm										MONDO:0004347	ICD10:C25.1|ICD10:C25.8|ICD10:C25.0|DOID:7735|ICD10:C25.2|Orphanet:424053|DOID:7235|NCIT:C5718|ICD10:C25.7																		owl:Class
MONDO:0002809	biolink:NamedThing	pancreatic cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.	mondoexuq1wtf	cystadenoma of pancreas|exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of the pancreas											DOID:3918|NCIT:C4374|UMLS:C0341486|SCTID:235967003																		owl:Class
MONDO:0032586	biolink:NamedThing	diarrhea 10, protein-losing enteropathy type		mondoexuq1wtf	DIAR10|DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE											OMIM:618183																		owl:Class
MONDO:0001171	biolink:NamedThing	acute salpingo-oophoritis	Acute form of salpingo-oophoritis.	mondoexuq1wtf	acute salpingitis and oophoritis|salpingo-oophoritis, acute											COHD:196468|ICD10:N70.03|ICD10:N70.0|ICD9:614.0|SCTID:266581008|DOID:10971|UMLS:C0156327																		owl:Class
MONDO:0001173	biolink:NamedThing	acute salpingitis	Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	mondoexuq1wtf	salpingitis, acute											SCTID:8912009|ICD10:N70.01|DOID:10973|UMLS:C0269038|NCIT:C40120																		owl:Class
MONDO:0012359	biolink:NamedThing	combined immunodeficiency due to partial RAG1 deficiency	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	mondoexuq1wtf	Cid due to partial RAG1 deficiency|Cid with expansion of gamma delta T cells|ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity|combined immunodeficiency with expansion of gamma delta T cells											UMLS:C1835931|OMIM:609889|MESH:C563691|SCTID:725290000|Orphanet:231154|UMLS:C4510944|ICD10:D81.8																		owl:Class
MONDO:0032857	biolink:NamedThing	diarrhea 11, malabsorptive, congenital		mondoexuq1wtf	DIARRHEA 11, MALABSORPTIVE, CONGENITAL|DIAR11|Intractable Diarrhea of Infancy Syndrome											OMIM:618662																		owl:Class
MONDO:0014180	biolink:NamedThing	epidermolysis bullosa simplex due to BP230 deficiency		mondoexuq1wtf	EBSB2|epidermolysis bullosa simplex, autosomal recessive 2|EBS-AR BP230|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex, autosomal recessive type 2											OMIM:615425|ICD10:Q81.0|Orphanet:412181|UMLS:C3809470																		owl:Class
MONDO:0016266	biolink:NamedThing	squamous cell carcinoma of the corpus uteri	A squamous cell carcinoma that involves the body of uterus.	mondoexuq1wtf	body of uterus squamous cell carcinoma|endometrial squamous cell carcinoma											Orphanet:213716|ICD10:C50																		owl:Class
MONDO:0017089	biolink:NamedThing	isolated megalencephaly	A megalencephaly (disease) that is not part of a larger syndrome.	mondoexuq1wtf	isolated megalencephaly (disease)|isolated macrencephaly|nonsyndromic megalencephaly (disease)											Orphanet:268920|ICD10:Q04.5																		owl:Class
MONDO:0018473	biolink:NamedThing	hyperlipoproteinemia type 3	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.	mondoexuq1wtf	dysbetalipoproteinemia|HLP type 3|apolipoprotein E, deficiency or defect of|hyperlipoproteinemia, type III|familial hypercholesterolemia with hyperlipemia|dyslipidemia type 3|low density lipoprotein cholesterol level quantitative trait locus 5|dysbetalipoproteinemia due to defect in apolipoprotein E-D|hyperlipoproteinemia type III|Broad-betalipoproteinemia|hyperlipidemia type 3|Broad beta disease|carbohydrate induced hyperlipemia|familial hypercholesterolaemia with hyperlipaemia|remnant disease|coronary artery disease, Severe, Susceptibility to|remnant removal disease|familial dysbetalipoproteinemia|familial hyperlipoproteinemia type 3|familial Hyperbeta- and Prebetalipoproteinemia|familial type 3 hyperlipoproteinemia|remnant hyperlipidemia|floating-betalipoproteinemia|hyperlipemia with Familial Hypercholesterolemic xanthomatosis											Orphanet:412|DOID:3145|OMIM:617347|SCTID:398796005|GARD:0006703|UMLS:C0020479|UMLS:C1862561|MedDRA:10060751|ICD10:E78.2																		owl:Class
MONDO:0001336	biolink:NamedThing	familial hyperlipidemia	An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary hyperlipidemia (disease)|hyperlipidaemia|familial hyperlipemia|familial hyperlipoproteinemia|hyperlipemia					Editor note: consider merging						ICD10:E78.5|DOID:1168																		owl:Class
MONDO:0000535	biolink:NamedThing	tonsil squamous cell carcinoma	A squamous cell carcinoma that involves the tonsil.	mondoexuq1wtf	tonsil squamous cell carcinoma											DOID:0050920																		owl:Class
MONDO:0044704	biolink:NamedThing	oropharynx squamous cell carcinoma	A squamous cell carcinoma that involves the oropharynx.	mondoexuq1wtf	oropharyngeal squamous cell carcinoma|oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|oropharyngeal epidermoid carcinoma|squamous cell carcinoma of the oropharynx|epidermoid carcinoma of the oropharynx|squamous cell carcinoma of oropharynx											ONCOTREE:OPHSC|NCIT:C8181|Orphanet:500478																		owl:Class
MONDO:0011028	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2F	Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|LGMD2F|SGCD autosomal recessive limb-girdle muscular dystrophy|delta-sarcoglycanopathy|limb-girdle muscular dystrophy type 2F|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|muscular dystrophy, limb-girdle, type 2F											OMIM:601287|SCTID:718177001|ICD10:G71.0|DOID:0110280|Orphanet:219|MESH:C535896|GARD:0008573														https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f				owl:Class
MONDO:0014874	biolink:NamedThing	pontocerebellar hypoplasia, type 2F	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.	mondoexuq1wtf	pontocerebellar hypoplasia, type 2F; PCH2F|PCH2F|pontocerebellar hypoplasia, type 2F|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15|TSEN15 non-syndromic pontocerebellar hypoplasia											UMLS:C4310757|OMIM:617026																		owl:Class
MONDO:0016759	biolink:NamedThing	pontocerebellar hypoplasia type 2	Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.	mondoexuq1wtf	PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy											ICD10:Q04.3|NCIT:C124057|GARD:0010705|MESH:C548070|UMLS:C2932714|SCTID:715463008|Orphanet:2524														https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2				owl:Class
MONDO:0007420	biolink:NamedThing	autosomal dominant deafness - onychodystrophy syndrome	Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.	mondoexuq1wtf	familial ectodermal dysplasia with sensori-neural deafness and other anomalies|Robinson-Miller-Bensimon syndrome|DDOD syndrome|Ddod syndrome|Robinson Miller Bensimon syndrome|DDOD|autosomal dominant deafness-onychodystrophy syndrome|deafness, congenital, with onychodystrophy, autosomal dominant|deafness, congenital, and onychodystrophy, autosomal dominant|deafness-onychodystrophy syndrome, autosomal dominant|deafness and onychodystrophy, dominant form											Orphanet:79499|UMLS:C2675730|GARD:0004732|ICD10:Q87.8|OMIM:124480														https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome				owl:Class
MONDO:0007710	biolink:NamedThing	facial hemiatrophy	Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.	mondoexuq1wtf	hemifacial atrophy|HFA|progressive facial hemiatrophy|Romberg syndrome|hemifacial atrophy, progressive|progressive hemifacial atrophy|PHA|Romberg hemi-facial atrophy|parry-Romberg syndrome											DOID:1757|NCIT:C116916|Orphanet:1214|GARD:0007338|UMLS:C0015458|SCTID:718224004|OMIM:141300|MESH:D005150|ICD10:G51.8																		owl:Class
MONDO:0008380	biolink:NamedThing	retinoblastoma	A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	mondoexuq1wtf	RB|RB1|retinoblastoma|Rb|retinoblastoma, malignant|RB - retinoblastoma|eye cancer, retinoblastoma											ICD10:C69.2|DOID:768|Orphanet:790|UMLS:C0035335|MESH:D012175|SCTID:370967009|ONCOTREE:RBL|MedDRA:10038916|ICDO:9510/3|NCIT:C7541|GARD:0007563														https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526				owl:Class
MONDO:0004338	biolink:NamedThing	retinal cell cancer		mondoexuq1wtf	malignant neoplasm of retinal cell|malignant retinal cell neoplasm|retinal cell cancer|cancer of retinal cell											DOID:771																		owl:Class
MONDO:0000396	biolink:NamedThing	spastic cerebral palsy	A form of cerebral palsy wherein spasticity is the exclusive impairment present.	mondoexuq1wtf	hypertonic cerebral palsy											NCIT:C116903|DOID:0050669|SCTID:230773005|ICD9:344.89|UMLS:C0338596																		owl:Class
MONDO:0004670	biolink:NamedThing	lupus erythematosus	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.	mondoexuq1wtf	lupus|lupus erythematosus											ICD10:L93|ICD9:695.4|DOID:8857|COHD:255891|UMLS:C0409974|NCIT:C27153|SCTID:200936003|ICD10:L93.0																		owl:Class
MONDO:0005250	biolink:NamedThing	placental villitis	Inflammatory process that involves the chorionic villi (villitis) of the placenta.	mondoexuq1wtf												UMLS:C1270169|EFO:0003110|SCTID:388604008																		owl:Class
MONDO:0045013	biolink:NamedThing	disease of extraembryonic membrane	A disease or disorder that involves the extraembryonic membrane.	mondoexuq1wtf	extraembryonic membrane disease or disorder|disease or disorder of extraembryonic membrane|disorder of extraembryonic membrane|disease of extraembryonic membrane|extraembryonic membrane disease											SCTID:609522002|UMLS:C3662139																		owl:Class
MONDO:0007471	biolink:NamedThing	Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.	mondoexuq1wtf	Malattia leventinese|DHRD|DHD|familial drusen|dominant radial drusen|drusen, radial, autosomal dominant|dominant drusen|Doyne honeycomb retinal dystrophy|Doyne honeycomb degeneration of retina											DOID:0060745|Orphanet:75376|UMLS:C1832174|UMLS:CN205694|OMIM:126600|GARD:0001912|SCTID:193411004|UMLS:C1852020|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy				owl:Class
MONDO:0020245	biolink:NamedThing	disease predisposing to age-related macular degeneration		mondoexuq1wtf												UMLS:CN207066|Orphanet:98667																		owl:Class
MONDO:0012516	biolink:NamedThing	mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.	mondoexuq1wtf	mandibulofacial dysostosis, Guion-Almeida type|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|MFDM|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis with microcephaly|MFDM syndrome|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|MFDGA											DOID:0080196|MESH:C537405|SCTID:711543008|Orphanet:79113|ICD10:Q87.0|OMIM:610536|UMLS:C1864652|GARD:0010056																		owl:Class
MONDO:0002624	biolink:NamedThing	bone leiomyosarcoma	A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	bone leiomyosarcoma|bone tissue leiomyosarcoma|leiomyosarcoma of bone|leiomyosarcoma of bone tissue											DOID:3367|NCIT:C7154|UMLS:C1332579																		owl:Class
MONDO:0021054	biolink:NamedThing	bone sarcoma	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.	mondoexuq1wtf	sarcoma of the bone|skeletal sarcoma|osseous sarcoma|bone sarcoma|sarcoma of bone											DOID:0080639|UMLS:C1704327|Orphanet:223727|SCTID:448710000|ICD9:170.9|NCIT:C9312|MedDRA:10006007																		owl:Class
MONDO:0001424	biolink:NamedThing	sarcoid meningitis	Meningitis that arises from sarcoidosis.	mondoexuq1wtf	meningitis in sarcoidosis					Editor note: consider obsoleting as represents a finding not a disease						SCTID:192673008|ICD9:321.4|ICD10:D86.81|COHD:440699|DOID:12055|UMLS:C0154648																		owl:Class
MONDO:0045047	biolink:NamedThing	neurosarcoidosis	A sarcoidosis that involves the nervous system.	mondoexuq1wtf	sarcoidosis of nervous system|nervous system sarcoidosis|neurosarcoidosis											MESH:C535814|SCTID:230193008|UMLS:C0393485																		owl:Class
MONDO:0002799	biolink:NamedThing	nodular medulloblastoma	A medulloblastoma characterized by nodularity and neuronal differentiation.	mondoexuq1wtf												DOID:3873																		owl:Class
MONDO:0007959	biolink:NamedThing	medulloblastoma	A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	mondoexuq1wtf	CPNET|medulloblastoma, malignant|cerebellum embryonal neoplasm|MDB|medulloblastoma with extensive nodularity|localized primitive neuroectodermal tumor|Medulloblastomas|cerebellar medulloblastoma|medulloblastoma, Desmoplastic|CNS PNET|brain medulloblastoma|medulloblastoma|infratentorial primitive neuroectodermal tumor											UMLS:C0025149|MedDRA:10027107|DOID:0050902|Orphanet:616|MESH:D008527|GARD:0007005|EFO:0002939|OMIM:155255|ICDO:9470/3|UMLS:C1334410|SCTID:443333004|ICD10:C71.6|ONCOTREE:MBL|NCIT:C3222|DOID:0060104														https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma				owl:Class
MONDO:0100376	biolink:NamedThing	acute myeloid leukemia, t(9;11)(p21.3;q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)	mondoexuq1wtf	AML, t(9;11)(p21.3;q23.3)|AML, t(9;11)(p22;q23)					term to be merged with: MONDO:0020317 'acute myeloid leukemia with 11q23 abnormalities'																				https://github.com/monarch-initiative/mondo/issues/3583				owl:Class
MONDO:0012064	biolink:NamedThing	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.	mondoexuq1wtf	bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance|BMKS|choanal atresia deafness cardiac defects dysmorphism|oculootofacial dysplasia|Burn-McKeown syndrome											ICD10:Q87.8|UMLS:C1835913|Orphanet:1200|MESH:C563682|GARD:0010041|OMIM:608572														https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome				owl:Class
MONDO:0015503	biolink:NamedThing	nose and cavum anomaly		mondoexuq1wtf												ICD10:Q30.1|ICD10:Q30.3|ICD10:Q30.0|ICD10:Q30.2|Orphanet:156246|ICD10:Q30.9|ICD10:Q30.8																		owl:Class
MONDO:0035370	biolink:NamedThing	ALPI-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.	mondoexuq1wtf												Orphanet:597887														https://github.com/monarch-initiative/mondo/issues/3543				owl:Class
MONDO:0013946	biolink:NamedThing	hypogonadotropic hypogonadism 15 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.	mondoexuq1wtf	HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in HS6ST1|hypogonadotropic hypogonadism 15 with or without anosmia|HH15											ICD10:23.0|OMIM:614880|UMLS:C3553977|DOID:0090075																		owl:Class
MONDO:0018800	biolink:NamedThing	Kallmann syndrome	Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).	mondoexuq1wtf	Olfacto-genital pathological sequence|Kallman's syndrome|familial hypogonadism with anosmia|Kallman syndrome|hypogonadotropic hypogonadism with anosmia|hypogonadism with anosmia|congenital hypogonadotropic hypogonadism with anosmia											DOID:3614|MESH:D017436|GARD:0010771|ICD10:E23.0|Orphanet:478|MedDRA:10053142|NCIT:C75479|SCTID:93559003|UMLS:C0162809|ICD9:253.4																		owl:Class
MONDO:0012884	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 13		mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, 13|SLEB13											OMIM:612378																		owl:Class
MONDO:0005887	biolink:NamedThing	oral tuberculosis	Tuberculosis of the mouth, tongue, and salivary glands.	mondoexuq1wtf												SCTID:235067001|DOID:402|ICD9:528.9|UMLS:C0041323|EFO:0007407|MESH:D014393|ICD9:017.90																		owl:Class
MONDO:0011802	biolink:NamedThing	hypercalciuria, absorptive, 1		mondoexuq1wtf	hypercalciuria, absorptive, type 1|hypercalciuria, absorptive, 1|Hca1											UMLS:C1846573|MESH:C564600|OMIM:607258																		owl:Class
MONDO:0016352	biolink:NamedThing	idiopathic inherited hypercalciuria		mondoexuq1wtf	idiopathic hypercalciuria					Editor note: consider grouping class						ICD10:E83.5|Orphanet:2197																		owl:Class
MONDO:0013342	biolink:NamedThing	hereditary spastic paraplegia 48	Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.	mondoexuq1wtf	SPG48|hereditary spastic paraplegia type 48|spastic paraplegia 48, autosomal recessive|hereditary spastic paraplegia caused by mutation in AP5Z1|AP5Z1 hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 48|autosomal recessive spastic paraplegia 48											SCTID:763367009|Orphanet:306511|ICD10:G11.4|OMIM:613647|DOID:0110800|UMLS:C3150901																		owl:Class
MONDO:0010940	biolink:NamedThing	inherited susceptibility to asthma		mondoexuq1wtf	asthma-related traits, susceptibility to|asthma, diminished response to Antileukotriene treatment 1N|asthma, susceptibility to|asthma, protection against|asthma, bronchial											OMIM:600807																		owl:Class
MONDO:0011083	biolink:NamedThing	trichodental syndrome	Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.	mondoexuq1wtf	Tricho-dental dysplasia|TRICHODENTAL dysplasia|Tricho-dental syndrome|kersey syndrome											OMIM:601453|GARD:0000265|SCTID:277810000|Orphanet:3351|MESH:C536551|UMLS:C0406724														https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome				owl:Class
MONDO:0019282	biolink:NamedThing	syndromic hair shaft abnormality		mondoexuq1wtf												Orphanet:79367|UMLS:CN227611																		owl:Class
MONDO:0019729	biolink:NamedThing	light and heavy chain deposition disease		mondoexuq1wtf	LHCDD											UMLS:CN206636|Orphanet:93557|ICD10:D89.8																		owl:Class
MONDO:0019463	biolink:NamedThing	non-amyloid monoclonal immunoglobulin deposition disease		mondoexuq1wtf	Randall disease|non-amyloid MIDD											Orphanet:86861|ICD10:D89.8|UMLS:CN206242																		owl:Class
MONDO:0013102	biolink:NamedThing	basal cell carcinoma, susceptibility to, 3		mondoexuq1wtf	BCC3|basal cell carcinoma, susceptibility to, 3											OMIM:613059|UMLS:C2751605																		owl:Class
MONDO:0010532	biolink:NamedThing	infantile-onset X-linked spinal muscular atrophy	A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	mondoexuq1wtf	spinal muscular atrophy, infantile X-linked|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked type 2|X-linked spinal muscular atrophy type 2|arthrogryposis multiplex congenita, distal, X-linked|SMAX2|spinal muscular atrophy, X-linked lethal infantile|X-linked distal arthrogryposis multiplex congenita|AMC, distal, X-linked|arthrogryposis, X-linked, type 1|spinal muscular atrophy with arthrogryposis											UMLS:C1844934|OMIM:301830|ICD10:G12.1|SCTID:719836007|MESH:C535380|Orphanet:1145|GARD:0008521																		owl:Class
MONDO:0001516	biolink:NamedThing	spinal muscular atrophy	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf												ICD9:335.19|ICD9:335.1|NCIT:C85075|ICD10:G12.9|GARD:0007674|MESH:D009134|DOID:12377|EFO:0008525|ICD9:335.10|UMLS:C0026847|COHD:372605|SCTID:5262007														https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy				owl:Class
MONDO:0043135	biolink:NamedThing	microcephaly microphthalmos blindness		mondoexuq1wtf												UMLS:C2931526|GARD:0003629|MESH:C537541																		owl:Class
MONDO:0007434	biolink:NamedThing	primary failure of tooth eruption		mondoexuq1wtf	primary retention of teeth|primary failure of eruption, nonsyndromic|failure of tooth eruption, primary|unerupted second primary molar|dental noneruption|posterior Openbite malocclusion, familial|PFE											ICD10:K00.8|Orphanet:412206|DOID:0111341|MESH:C565114|UMLS:C1852222|OMIM:125350																		owl:Class
MONDO:0032690	biolink:NamedThing	microcephaly, growth deficiency, seizures, and brain malformations		mondoexuq1wtf	MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS|MIGSB											OMIM:618346																		owl:Class
MONDO:0013602	biolink:NamedThing	paragangliomas 5	Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.	mondoexuq1wtf	paragangliomas 5|SDHA paraganglioma|paraganglioma caused by mutation in SDHA|PGL5|paragangliomas type 5											UMLS:C3279992|OMIM:614165																		owl:Class
MONDO:0003659	biolink:NamedThing	pediatric lymphoma	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.	mondoexuq1wtf	childhood lymphoma|lymphoma|pediatric lymphoma											DOID:5823|NCIT:C5165|UMLS:C1332979																		owl:Class
MONDO:0003147	biolink:NamedThing	space motion sickness	Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)	mondoexuq1wtf	adaptation syndrome, Space|motion sickness, Space|syndrome, Space adaptation|Space adaptation syndrome											UMLS:C0242700|DOID:4796|EFO:1001188|MESH:D018489																		owl:Class
MONDO:0008015	biolink:NamedThing	motion sickness	A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.	mondoexuq1wtf	motion sickness|travel sickness											EFO:0006928|ICD9:994.6|UMLS:C0026603|ICD10:T75.3|OMIM:158280|MESH:D009041|DOID:2951|COHD:30284																		owl:Class
MONDO:0003257	biolink:NamedThing	posterior pituitary gland neoplasm	A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.	mondoexuq1wtf	Neurohypophysis tumor|PITUICYTOMA, benign|Neurohypophysis neoplasm|neurohypophysis tumor|tumor of neurohypophysis|posterior pituitary gland tumor|neurohypophysis neoplasm (disease)|neoplasm of neurohypophysis|posterior pituitary tumor|neurohypophysis neoplasm|posterior pituitary neoplasm|posterior pituitary gland neoplasm											UMLS:C1334957|DOID:5048|NCIT:C7157																		owl:Class
MONDO:0017611	biolink:NamedThing	pituitary tumor	A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.	mondoexuq1wtf	neoplasm of pituitary|tumor of pituitary gland|pituitary gland neoplasm|neoplasm of the pituitary|pituitary tumor|tumor of the pituitary gland|tumor of pituitary|neoplasm of the pituitary gland|tumor of the pituitary|pituitary neoplasm|pituitary gland tumor|neoplasm of pituitary gland											NCIT:C3330|ICD9:239.7|SCTID:127024001|UMLS:C0032019|Orphanet:304055																		owl:Class
MONDO:0008675	biolink:NamedThing	freeman-Sheldon syndrome	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	mondoexuq1wtf	craniocarpotarsal dysplasia|whistling face-windmill vane hand syndrome|craniocarpotarsal dystrophy|DA2A|freeman-Sheldon syndrome|Craniocarpotarsal dysplasia|windmill-vane-hand syndrome|arthrogryposis, distal, type 2A|FSS|arthrogryposis distal type 2A|whistling face syndrome|whistling-face syndrome|cranio-carpo-tarsal syndrome|freeman Sheldon syndrome|Craniocarpotarsal dystrophy|distal arthrogryposis type 2A											Orphanet:2053|NCIT:C98931|DOID:0111604|ICD10:Q87.0|OMIM:193700|SCTID:52616002|UMLS:C0265224|GARD:0006466|ICD10CM:Q87.0|MESH:C535483																		owl:Class
MONDO:0007984	biolink:NamedThing	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	mondoexuq1wtf	metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly|MDMHB|metaphyseal dysplasia maxillary hypoplasia brachydactyly											ICD10:Q77.8|DOID:0111513|UMLS:CN201864|GARD:0003568|OMIM:156510|Orphanet:2504														https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly				owl:Class
MONDO:0019693	biolink:NamedThing	multiple metaphyseal dysplasia		mondoexuq1wtf												Orphanet:93430|ICD10:Q78.5																		owl:Class
MONDO:0009904	biolink:NamedThing	Gitelman syndrome	Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	mondoexuq1wtf	hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Gitelman's syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|familial hypokalemia-hypomagnesemia|Potassium and magnesium depletion|Gitelman syndrome|GTLMNS											MESH:D053579|UMLS:C0268450|ICD9:275.49|SCTID:707756004|GARD:0008547|MedDRA:10062906|OMIM:263800|Orphanet:358|DOID:0050450|NCIT:C84730|ICD10:N15.8														https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome				owl:Class
MONDO:0100252	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 1		mondoexuq1wtf	Teutschlaender disease, familial|tumoral calcinosis, Hyperphosphatemic, familial, 1|hyperostosis-hyperphosphatemia syndrome|HFTC|Morbus Teutschlaender|calcinosis, tumoral, with hyperphosphatemia|tumoral calcinosis, primary Hyperphosphatemic|HFTC1|tumoral calcinosis, hyperphosphatemic, familial|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1							http://orcid.org/0000-0001-5208-3432				OMIM:211900																		owl:Class
MONDO:0018891	biolink:NamedThing	familial tumoral calcinosis	Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.	mondoexuq1wtf												DC:0000445|ICD10:M11.2|GARD:0010877|MedDRA:10059364|Orphanet:53715														https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis				owl:Class
MONDO:0016456	biolink:NamedThing	5q14.3 microdeletion syndrome	The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	mondoexuq1wtf	5q14.3 deletion syndrome|autosomal dominant intellectual disability 20|monosomy 5q14.3|chromosome 5q14.3 deletion syndrome|Del(5)(q14.3)					Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this						Orphanet:228384|ICD10:Q93.5|SCTID:719661007|GARD:0012166																		owl:Class
MONDO:0016871	biolink:NamedThing	partial deletion of chromosome 6		mondoexuq1wtf	partial monosomy of chromosome 6|partial deletion of chromosome type 6											Orphanet:261791|ICD10:Q93.5																		owl:Class
MONDO:0020054	biolink:NamedThing	partial autosomal monosomy		mondoexuq1wtf	partial autosomal deletion											ICD10:Q93.5|ICD10:Q93.3|ICD10:Q93.4|Orphanet:98142																		owl:Class
MONDO:0042727	biolink:NamedThing	sacrococcygeal teratoma	A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.	mondoexuq1wtf	sacrococcygeal teratoma|pre-sacral teratoma|presacral teratoma											HP:0030736|UMLS:C0559459|GARD:0000319|NCIT:C99055|Orphanet:494421|SCTID:281561000																		owl:Class
MONDO:0000812	biolink:NamedThing	vertebral column disease	A disease involving the vertebral column.	mondoexuq1wtf	vertebral column disease or disorder|disease of spine|spinal disease|vertebral column disease|disorder of vertebral column|disease or disorder of vertebral column|disease of vertebral column											SCTID:699699005|MESH:D013122|ICD9:724.9|UMLS:C0037933|DOID:0060564																		owl:Class
MONDO:0006143	biolink:NamedThing	cervical squamous cell carcinoma	A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.	mondoexuq1wtf	cervix squamous cell carcinoma|uterine cervix squamous cell carcinoma|squamous cell carcinoma of the cervix uteri|CESC|squamous cell carcinoma of the cervix|cervix uteri squamous cell carcinoma|squamous cell carcinoma of the uterine cervix|cervical squamous cell cancer|squamous cervical cancer|cervical squamous cell carcinoma|squamous cell carcinoma of uterine cervix|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of cervix											UMLS:C0279671|ICD10:C53.1|Orphanet:213767|NCIT:C4028|ONCOTREE:CESC|ICD10:C53.8|ICD10:C53.0|EFO:1000172|DOID:3744|SCTID:254886006																		owl:Class
MONDO:0009752	biolink:NamedThing	neuropathy, painful		mondoexuq1wtf	neuropathy, painful											MESH:C564945|OMIM:256870|UMLS:C1850383																		owl:Class
MONDO:0010268	biolink:NamedThing	X-linked lissencephaly with abnormal genitalia	X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.	mondoexuq1wtf	XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|XLAG syndrome|lissencephaly, X-linked, type 2|lissencephaly, X-linked 2|lissencephaly, X-linked, with ambiguous genitalia|hydranencephaly and abnormal genitalia|X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|LISX2|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|Xlisg|lissencephaly, X-linked, 2|hydranencephaly with abnormal genitalia											GARD:0012491|MESH:C564563|SCTID:717632002|ICD10:Q04.3|Orphanet:452|OMIM:300215														https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia				owl:Class
MONDO:0018496	biolink:NamedThing	ARX-related encephalopathy-brain malformation spectrum		mondoexuq1wtf												Orphanet:423655																		owl:Class
MONDO:0007109	biolink:NamedThing	congenital dyserythropoietic anemia type 3	Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.	mondoexuq1wtf	CDA type III|CDAN3|Erythroreticulosis, hereditary benign|dyserythropoietic Anemia, congenital, type 3|anemia with multinucleated erythroblasts|CDA III|congenital dyserythropoietic anemia type 3|anemia, congenital dyserythropoietic, type III|CDA type 3|dyserythropoietic anemia, congenital type 3|CDA 3											UMLS:C0271934|GARD:0002002|OMIM:105600|Orphanet:98870|ICD10:D64.4|DOID:0111399|SCTID:26409005|ICD9:285.8																		owl:Class
MONDO:0007934	biolink:NamedThing	benign concentric annular macular dystrophy	Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.	mondoexuq1wtf	macular dystrophy, concentric annular|maculopathy, bull's eye|macular dystrophy, benign concentric annular|Mcdca											OMIM:153870|SCTID:719520001|Orphanet:251287|ICD10:H35.5|MESH:C537833|UMLS:C4304667|GARD:0009887																		owl:Class
MONDO:0020242	biolink:NamedThing	genetic macular dystrophy	Macular dystrophy that is related to a change in a gene.	mondoexuq1wtf	genetic macular dystrophy|genetic macular dystrophy (disease)											Orphanet:98664|ICD10:H35.5|DC:0000263|NCIT:C140264|SCTID:276436007																		owl:Class
MONDO:0011420	biolink:NamedThing	short stature due to partial GHR deficiency	Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.	mondoexuq1wtf	Growth hormone deficiency, isolated, partial|Growth hormone, insensitivity to, partial|GHIP|increased responsiveness to Growth hormone|growth hormone insensitivity, partial|short stature due to partial growth hormone receptor deficiency											Orphanet:314802|OMIM:604271|MESH:C565805|ICD10:E34.3																		owl:Class
MONDO:0015892	biolink:NamedThing	growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.	mondoexuq1wtf	GHIS|short stature due to a defect in growth hormone receptor or post-receptor pathway|Growth hormone insensitivity syndromes											GARD:0003924|ICD10:E34.3|UMLS:C4318479|UMLS:C0271568|UMLS:CN200504|Orphanet:181393|NCIT:C129867																		owl:Class
MONDO:0001505	biolink:NamedThing	alcoholic hepatitis	Acute hepatitis resulting from ingestion of alcohol.	mondoexuq1wtf	acute alcoholic liver disease|alcoholic Hepatitis|acute alcoholic hepatitis|acute alcoholic Hepatitis|alcoholic hepatitis											NCIT:C34684|DOID:12351|ICD9:571.1|COHD:201343|CSP:1754-6978|UMLS:C0001306|SCTID:235875008|MESH:D006519|ICD10:K70.1																		owl:Class
MONDO:0043693	biolink:NamedThing	alcoholic liver diseases	A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.	mondoexuq1wtf	alcoholic liver diseases|alcoholic liver damage|alcoholic liver disease|liver disease, alcoholic											EFO:0008573|SCTID:41309000|NCIT:C34783|MESH:D008108																		owl:Class
MONDO:0060688	biolink:NamedThing	hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency		mondoexuq1wtf	hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4|hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency											OMIM:617953|UMLS:CN244571																		owl:Class
MONDO:0011353	biolink:NamedThing	atrial septal defect, secundum, with various cardiac and Noncardiac defects		mondoexuq1wtf	atrial septal defect, secundum, with various cardiac and Noncardiac defects											MESH:C566351|OMIM:603642|UMLS:C1863648																		owl:Class
MONDO:0019679	biolink:NamedThing	brachydactyly type A7	Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.	mondoexuq1wtf	brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type											ICD10:Q73.8|SCTID:720571006|Orphanet:93397|UMLS:CN206603|GARD:0000984														https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7				owl:Class
MONDO:0015873	biolink:NamedThing	Paget disease of the nipple	Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.	mondoexuq1wtf	Paget disease of the breast|Paget's disease of the nipple|Paget's disease of nipple|Paget disease of the nipple|Paget's disease, mammary|mammary Paget disease|PD|nipple Paget's disease											UMLS:C1704323|MedDRA:10033367|Orphanet:180275|SCTID:403946000|ONCOTREE:PD|GARD:0007303|ICD10:C50.0|NCIT:C3301																		owl:Class
MONDO:0003950	biolink:NamedThing	nipple carcinoma	A carcinoma that arises from epithelial cells of the nipple	mondoexuq1wtf	nipple cancer|nipple carcinoma|carcinoma of nipple											UMLS:C1334966|NCIT:C28432|DOID:6629																		owl:Class
MONDO:0010334	biolink:NamedThing	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	mondoexuq1wtf	DDCH|deafness, dystonia, and cerebral hypomyelination|contiguous ABCD1/Dxs1375E deletion syndrome											ICD10:Q87.8|Orphanet:369939|UMLS:CN204816|OMIM:300475|MESH:C564508																		owl:Class
MONDO:0020208	biolink:NamedThing	syndromic myopia	A myopia (disease) that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with myopia (disease)|syndromic myopia (disease)											UMLS:CN227818|Orphanet:98620																		owl:Class
MONDO:0013563	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 1	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.	mondoexuq1wtf	multiple congenital anomalies-hypotonia-seizures syndrome type 1|MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome|congenital disorder of glycosylation due to PIGN deficiency|multiple congenital anomalies-hypotonia-seizures syndrome 1|multiple congenital anomalies - hypotonia - seizures syndrome|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|PIGN-CDG|glycosylphosphatidylinositol biosynthesis defect 3											DOID:0080138|Orphanet:280633|OMIM:614080|ICD10:Q87.8|GARD:0012781|UMLS:C3279775																		owl:Class
MONDO:0010531	biolink:NamedThing	contractures-ectodermal dysplasia-cleft lip/palate syndrome	Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	mondoexuq1wtf	congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|Ladda Zonana Ramer syndrome|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay|contractures ectodermal dysplasia cleft lip palate|Ladda-Zonana-Ramer syndrome											GARD:0001515|OMIM:301815|Orphanet:1484|SCTID:720746006|ICD10:Q87.8																		owl:Class
MONDO:0015335	biolink:NamedThing	orofacial clefting syndrome		mondoexuq1wtf												UMLS:CN199365|Orphanet:139039																		owl:Class
MONDO:0014250	biolink:NamedThing	familial hyperprolactinemia	Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.	mondoexuq1wtf	hyperprolactinemia|hereditary hyperprolactinemia (disease)|HPRL|familial isolated prolactin receptor deficiency|familial hyperprolactinemia											Orphanet:397685|SCTID:763715007|OMIM:615555|ICD10:E22.1																		owl:Class
MONDO:0032776	biolink:NamedThing	deafness, autosomal recessive 99		mondoexuq1wtf	DEAFNESS, AUTOSOMAL RECESSIVE 99|DFNB99											DOID:0111634|OMIM:618481																		owl:Class
MONDO:0001785	biolink:NamedThing	malignant secondary hypertension		mondoexuq1wtf												ICD9:405.0|COHD:318437|DOID:13731|SCTID:89242004|UMLS:C0155617|ICD9:405.09																		owl:Class
MONDO:0006196	biolink:NamedThing	endometrial serous adenocarcinoma	A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.	mondoexuq1wtf	uterine corpus serous adenocarcinoma|serous endometrial adenocarcinoma|uterine serous papillary adenocarcinoma|uterine papillary serous carcinoma|endometrial serous adenocarcinoma|uterine serous carcinoma|uterine serous adenocarcinoma											EFO:1000238|NCIT:C27838																		owl:Class
MONDO:0005278	biolink:NamedThing	serous adenocarcinoma	An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.	mondoexuq1wtf	serous adenocarcinoma|serous carcinoma|serous cystadenocarcinoma, NOS (morphologic abnormality)|serous cystadenocarcinoma											UMLS:C0206701|EFO:0003825|NCIT:C40101|DOID:3114																		owl:Class
MONDO:0014601	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 20	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.	mondoexuq1wtf	SCAR20|intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|autosomal recessive spinocerebellar ataxia type 20|spinocerebellar ataxia, autosomal recessive 20|SNX14 autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in SNX14|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive type 20											OMIM:616354|UMLS:C4225355|ICD10:Q87.8|DOID:0080066|Orphanet:397709																		owl:Class
MONDO:0018781	biolink:NamedThing	KID syndrome	Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.	mondoexuq1wtf	keratitis, ichthyosis, and deafness (KID) syndrome|ichthyosis hystrix Rheydt type|Senter syndrome|keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|KID/HID syndrome					Editor note: Orphanet classifies as both AD and AR						UMLS:C0265336|UMLS:CN205136|GARD:0003113|ICD9:759.89|ICD10:Q80.8|MedDRA:10048786|SCTID:2625009|Orphanet:477|OMIMPS:148210																		owl:Class
MONDO:0014740	biolink:NamedThing	autosomal dominant nonsyndromic deafness 68	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.	mondoexuq1wtf	deafness, autosomal dominant type 68|DFNA68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|HOMER2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 68|deafness, autosomal dominant 68|autosomal dominant nonsyndromic deafness type 68											DOID:0110589|ICD10:H90.3|OMIM:616707|UMLS:C4225240																		owl:Class
MONDO:0018939	biolink:NamedThing	muscle-eye-brain disease	A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.	mondoexuq1wtf	Santavuori congenital muscular dystrophy|muscle eye brain disease|muscle-eye-brain syndrome|MEB|MEB syndrome|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3											Orphanet:588|GARD:0000156|ICD10:Q04.3|ICD9:742.4|SCTID:277950001														https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease				owl:Class
MONDO:0016182	biolink:NamedThing	qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase		mondoexuq1wtf	qualitative or quantitative defects of protein POMGNT1											Orphanet:209024																		owl:Class
MONDO:0400003	biolink:NamedThing	skeletal fluorosis	A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.	mondoexuq1wtf	fluorosis of the skeleton							http://orcid.org/0000-0002-7463-6306																						owl:Class
MONDO:0013903	biolink:NamedThing	nystagmus 7, congenital, autosomal dominant		mondoexuq1wtf	NYSTAGMUS 7, congenital, autosomal dominant|NYS7											OMIM:614826|UMLS:C3553801																		owl:Class
MONDO:0005712	biolink:NamedThing	congenital nystagmus	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)	mondoexuq1wtf	nystagmus|nystagmus, congenital|congenital pathologic nystagmus											ICD9:379.51|DC:0000328|COHD:373489|OMIMPS:310700|EFO:0007217|SCTID:64635004|DOID:9649|MESH:D020417|ICD10:H55.01|HP:0000639																		owl:Class
MONDO:0014774	biolink:NamedThing	neuroblastoma, susceptibility to, 7		mondoexuq1wtf	neuroblastoma, susceptibility to, type 7|neuroblastoma, susceptibility to, 7|neuroblastoma, susceptibility to, 7; NBLST7|NBLST7											OMIM:616792																		owl:Class
MONDO:0018089	biolink:NamedThing	double outlet right ventricle	Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.	mondoexuq1wtf	double outlet right ventricle|DORV|Dextrotransposition of aorta											GARD:0001908|SCTID:204299009|UMLS:C0013069|ICD10:Q20.1|NCIT:C98916|DOID:6406|COHD:313867|Orphanet:3426|MedDRA:10013611|MESH:D004310																		owl:Class
MONDO:0011692	biolink:NamedThing	basal ganglia calcification, idiopathic, 2		mondoexuq1wtf	IBGC2|basal ganglia calcification, idiopathic, 2											UMLS:C1847731|MESH:C537657|OMIM:606656																		owl:Class
MONDO:0008947	biolink:NamedThing	bilateral striopallidodentate calcinosis	Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.	mondoexuq1wtf	cerebrovascular ferrocalcinosis|BSPDC|basal ganglia degeneration with calcification|PFBC|basal ganglia calcification, idiopathic|Fahr disease|idiopathic basal ganglia calcification|basal ganglia calcification|primary familial brain calcification					Encompasses a range of disorders with different etiology, see						OMIMPS:213600|SCTID:110997000|ICD9:333.0|Orphanet:1980|UMLS:CN852731|MESH:C536275|SCTID:230311004|MedDRA:10059626|UMLS:C0393589|HP:0002135|DOID:0060230|ICD9:348.89|ICD10:G23.8																		owl:Class
MONDO:0001515	biolink:NamedThing	corneal degeneration		mondoexuq1wtf												ICD9:371.49|COHD:372635|ICD10:H18.4|ICD9:371.40|ICD9:371.4|SCTID:111521006|DOID:1237|ICD10:H18.40|UMLS:C0155118																		owl:Class
MONDO:0012996	biolink:NamedThing	AGAT deficiency	L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.	mondoexuq1wtf	glycine amidinotransferase activity disease|arginine:glycine amidinotransferase deficiency|CCDS3|AGAT deficiency|GATM deficiency|cerebral creatine deficiency syndrome type 3|cerebral creatine deficiency syndrome 3|creatine deficiency syndrome due to AGAT deficiency|disorder of glycine amidinotransferase activity|L-arginine:glycine amidinotransferase deficiency											SCTID:702440000|ICD10:E72.8|DOID:0050712|Orphanet:35704|OMIM:612718|MESH:C567192|ICD9:270.8|UMLS:C2675179|GARD:0010323																		owl:Class
MONDO:0000456	biolink:NamedThing	cerebral creatine deficiency syndrome	Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.	mondoexuq1wtf	CDS|cerebral creatine deficiency syndrome|CCDS|creatine deficiency syndrome											Orphanet:79172|ICD10:E72.8|OMIMPS:300352|DOID:0050798|UMLS:CN227588																		owl:Class
MONDO:0018371	biolink:NamedThing	nebulin-related early-onset distal myopathy		mondoexuq1wtf	distal nebulin myopathy											ICD10:G71.0|Orphanet:399103																		owl:Class
MONDO:0016109	biolink:NamedThing	autosomal recessive distal myopathy	Autosomal recessive form of distal myopathy.	mondoexuq1wtf	distal myopathy, autosomal recessive											ICD10:G71.0|Orphanet:206653|UMLS:CN229019																		owl:Class
MONDO:0010121	biolink:NamedThing	thrombocytopenia-absent radius syndrome	Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.	mondoexuq1wtf	Tar syndrome|chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia absent radii|thrombocytopenia absent radius syndrome|radial aplasia-thrombocytopenia syndrome|thrombocytopenia-absent radius syndrome|absent radii and thrombocytopenia|thrombocytopenia with absent radii (TAR) syndrome|TAR syndrome|TAR											DOID:14699|ICD10:Q87.2|OMIM:274000|GARD:0005116|SCTID:85589009|UMLS:C0175703|Orphanet:3320|MedDRA:10071719|NCIT:C99038|MESH:C536940|ICD9:759.89																		owl:Class
MONDO:0003129	biolink:NamedThing	epithelial predominant pulmonary blastoma	A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.	mondoexuq1wtf	epithelial predominant pulmonary blastoma											UMLS:C1333420|NCIT:C36053|DOID:4768																		owl:Class
MONDO:0005933	biolink:NamedThing	pulmonary blastoma	A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.	mondoexuq1wtf	blastoma of lung|pulmonary blastoma|lung blastoma|blastoma of the lung|Pneumoblastoma											ICDO:8972/3|ICD10:C34.1|ICD10:C34.8|DOID:4765|UMLS:C0206629|EFO:0007458|ICD9:162.9|SCTID:189815007|Orphanet:64741|MESH:D018202|NCIT:C3732|ICD10:C34.3|ICD10:C34.9|ICD10:C34.2																		owl:Class
MONDO:0008633	biolink:NamedThing	Muckle-Wells syndrome	Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).	mondoexuq1wtf	neutrophilic urticaria|Muckle-Wells syndrome|MUCKLE-Wells syndrome|Uda syndrome|urticaria, deafness and amyloidosis|Muckle Wells syndrome|Cryopyrin-associated periodic syndrome 2|urticaria-deafness-amyloidosis syndrome|MWS											ICD10:E85.0|NCIT:C119054|UMLS:C1304205|OMIM:191900|Orphanet:575|DOID:0050854|SCTID:402417009|ICD9:708.8|GARD:0008472|UMLS:C0268390|MedDRA:10064569																		owl:Class
MONDO:0011551	biolink:NamedThing	TH-deficient dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	mondoexuq1wtf	DYT5b|tyrosine hydroxylase-deficient dopa-responsive dystonia|autosomal recessive Segawa syndrome|dystonia, Dopa-responsive, autosomal recessive|dopa-responsive dystonia, autosomal recessive|autosomal recessive dopa-responsive dystonia|Segawa syndrome, autosomal recessive|DOPA responsive dystonia, autosomal recessive|Parkinsonism, infantile, autosomal recessive|dystonia, DOPA responsive, autosomal recessive|Dopa-responsive dystonia, autosomal recessive											ICD10:G24.1|OMIM:605407|SCTID:715827001|Orphanet:101150|UMLS:C2673535|GARD:0001902																		owl:Class
MONDO:0017756	biolink:NamedThing	disorder of pterin metabolism		mondoexuq1wtf												UMLS:CN227201|Orphanet:309819																		owl:Class
MONDO:0005837	biolink:NamedThing	mandibular cancer	A malignant neoplasm involving the mandible	mondoexuq1wtf	malignant neoplasm of lower jaw bone|malignant mandible neoplasm|cancer of mandible|neoplasm of mandible|malignant neoplasm of mandible|mandible cancer|mandibular neoplasm|malignant neoplasm of inferior maxilla											COHD:40490993|MESH:D008339|ICD9:170.1|EFO:0007356|SCTID:448668007|ICD10:C41.1|DOID:2338|NCIT:C35178																		owl:Class
MONDO:0007750	biolink:NamedThing	hypercholesterolemia, familial, 1		mondoexuq1wtf	hyperlipoproteinemia, type 2|hypercholesterolemia, familial|FHCL1|LDL receptor disorder|FHC|hyper-low-density-lipoproteinemia|hyperlipoproteinemia, type 2A|hypercholesterolemic xanthomatosis, familial|low density lipoprotein cholesterol level quantitative trait locus 2											SCTID:398036000|OMIM:143890																		owl:Class
MONDO:0005439	biolink:NamedThing	familial hypercholesterolemia	An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.	mondoexuq1wtf	Fredrickson type IIa lipidaemia|hyperlipoproteinemia type II|familial hypercholesteremia|Fredrickson type IIa hyperlipoproteinemia|type II hyperlipidemia|hyperbetalipoproteinemia|familial hyperbetalipoproteinaemia					Editor note: TODO check xrefs						UMLS:CN118841|SCTID:190773008|ICD9:V19.8|OMIMPS:143890|DOID:13810|EFO:0004911|ICD10:E78.0|NCIT:C34704																		owl:Class
MONDO:0100068	biolink:NamedThing	SLC10A7-CDG	SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.	mondoexuq1wtf	SLC10A7-Congenital Disorder of Glycosylation|SLC10A7 deficiency				2018-12-14 19:28:28+00:00																									owl:Class
MONDO:0011297	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.	mondoexuq1wtf	autosomal dominant nocturnal frontal lobe epilepsy type 2|ENFL2|epilepsy, nocturnal frontal lobe, 2|nocturnal frontal lobe epilepsy 2											DOID:0060683|OMIM:603204|UMLS:C1864125|MESH:C566400																		owl:Class
MONDO:0020300	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.	mondoexuq1wtf	ENFL|ADNFLE											SCTID:698021005|GARD:0011918|DOID:0060681|ICD9:345.80|MESH:C579932|UMLS:C3696898|Orphanet:98784																		owl:Class
MONDO:0015483	biolink:NamedThing	mandibulofacial dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	mondoexuq1wtf	bilateral and symmetric oto-mandibular dysplasia											MESH:D008342|ICD10:Q75.4|MedDRA:10051456|Orphanet:155899																		owl:Class
MONDO:0014922	biolink:NamedThing	myofibrillar myopathy 7	Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.	mondoexuq1wtf	KY myofibrillar myopathy (disease)|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, 7|MFM7|myofibrillar myopathy (disease) caused by mutation in KY|myopathy, myofibrillar, type 7											OMIM:617114|UMLS:C4310711|DOID:0080098																		owl:Class
MONDO:0018943	biolink:NamedThing	myofibrillar myopathy	Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.	mondoexuq1wtf	Protein surplus myopathy (former name)|myofibrillar myopathies|myotilinopathy (type)|Zaspopathy (type)|filaminopathy (type)|myofibrillar myopathy|desmin storage myopathy (former name)|Desminopathy (type)|Alpha Beta crystallinopathy (type)|myofibrillar myopathy (disease)|desmin related myopathy (former name)		myofibrillar myopathy (disease)									NCIT:C83009|ICD10:G71.8|HP:0003715|GARD:0010529|SCTID:699269005|Orphanet:593|ICD9:359.89|MESH:C580316|UMLS:C2678065|DOID:0080307|OMIMPS:601419																		owl:Class
MONDO:0013354	biolink:NamedThing	spastic ataxia 4	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.	mondoexuq1wtf	autosomal recessive spastic ataxia type 4|SPAX4|spastic ataxia type 4|spastic ataxia 4, autosomal recessive|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome|MTPAP autosomal recessive spastic ataxia|autosomal recessive spastic ataxia - optic atrophy - dysarthria|autosomal recessive spastic ataxia caused by mutation in MTPAP|autosomal recessive spastic ataxia 4											UMLS:C3150925|GARD:0010992|DOID:0050943|UMLS:CN230090|Orphanet:254343|OMIM:613672|ICD10:G11.4																		owl:Class
MONDO:0010332	biolink:NamedThing	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	mondoexuq1wtf	cubitus valgus with intellectual disability and unusual facies|cubitus valgus with mental retardation and unusual facies											Orphanet:85280|OMIM:300471|MESH:C564510|UMLS:C1845450|ICD10:Q87.8																		owl:Class
MONDO:0042485	biolink:NamedThing	infective arthritis	The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	mondoexuq1wtf	infective arthritis|septic arthritis											NCIT:C26700|GARD:0006781																		owl:Class
MONDO:0009108	biolink:NamedThing	hyperdibasic aminoaciduria type 1	Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.	mondoexuq1wtf	dibasic amino aciduria I|dibasic amino aciduria type 1|dibasic amino aciduria 1|dibasic aminoaciduria 1											GARD:0001854|ICD10:E72.0|MESH:C567132|UMLS:C2673736|Orphanet:1032|OMIM:222690														https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1				owl:Class
MONDO:0019216	biolink:NamedThing	inborn disorder of amino acid absorption and transport		mondoexuq1wtf	disorder of amino acid absorption and transport|disorder of amino acid transport					Editor note: consider changing to transport						ICD10:E72.0|Orphanet:79166|UMLS:C0268641|ICD9:270.0|SCTID:16784003																		owl:Class
MONDO:0018971	biolink:NamedThing	isolated oxycephaly	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.	mondoexuq1wtf	hypsicephaly|turricephaly|hypsocephaly|acrocephaly|pyrgocephaly											Orphanet:63440|ICD10:Q75.0|SCTID:48069004																		owl:Class
MONDO:0017276	biolink:NamedThing	frontotemporal dementia	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.	mondoexuq1wtf	frontotemporal lobar degeneration|multiple system tauopathy with presenile dementia|FTD|frontotemporal lobe dementia (FLDEM)|MSTD|Wilhemsen-Lynch disease|pallidopontonigral degeneration											MedDRA:10068968|DOID:9255|ICD10:G31.0|GARD:0008436|MESH:D057180|UMLS:C0338451|COHD:4043378|Orphanet:282|NCIT:C84719|UMLS:C0520716																		owl:Class
MONDO:0015547	biolink:NamedThing	genetic dementia	Genetic dementia.	mondoexuq1wtf	genetic dementia											Orphanet:158124																		owl:Class
MONDO:0004949	biolink:NamedThing	neoplasm of mature B-cells	A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).	mondoexuq1wtf	mature B-cell neoplasms|mature B-cell lymphocytic neoplasm|mature B-cell neoplasm					Editor note: is a non-hodgkin in ONCOTREE						EFO:0000096|DOID:706|SCTID:269476000|ONCOTREE:MBN|NCIT:C27910|ICD9:202.0|UMLS:C1334633																		owl:Class
MONDO:0010788	biolink:NamedThing	Leber hereditary optic neuropathy	Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.	mondoexuq1wtf	Leber's hereditary optic neuropathy|Leber Hereditary optic atrophy|optic atrophy, Leber type|Leber hereditary optic neuropathy|Leber optic atrophy|LHON|Leber's optic atrophy|Leber’s disease											ICD10:H47.2|GARD:0006870|DOID:705|SCTID:58610003|UMLS:C0917796|Orphanet:104|MESH:D029242|NCIT:C84808|ICD10:H47.22|OMIM:535000																		owl:Class
MONDO:0019210	biolink:NamedThing	cutaneous neuroendocrine carcinoma	Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).	mondoexuq1wtf	neuroendocrine carcinoma of skin|Merkel cell carcinoma|neuroendocrine carcinoma of the skin|neuroendocrine skin carcinoma|Merkle tumors|cutaneous neuroendocrine carcinoma|carcinoma, Merkel cell|cutaneous APUDoma|Merkel cell tumor|Merkel cell cancer|trabecular cancer|MCC|carcinoma of Merkel cell|trabecular skin carcinoma											UMLS:C0007129|SCTID:253001006|MESH:D015266|ICD9:209.36|GARD:0009266|ICDO:8247/3|NCIT:C9231|EFO:1001471|Orphanet:79140|COHD:4100425|ONCOTREE:MCC|ICD10:C44.6|ICD10:C44.7|ICD10:C44.3																		owl:Class
MONDO:0002656	biolink:NamedThing	skin carcinoma	A carcinoma that arises from epithelial cells of the zone of skin	mondoexuq1wtf	zone of skin carcinoma|non-melanoma skin cancer|non-melanoma cancer of the skin|carcinoma of zone of skin|skin carcinoma|carcinoma of the skin|carcinoma of skin|skin cancer, non-melanoma|non-melanoma cancer of skin|nonmelanoma skin cancer											DOID:3451|UMLS:C0699893|NCIT:C4914																		owl:Class
MONDO:0009547	biolink:NamedThing	macrosomia-microphthalmia-cleft palate syndrome	Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	mondoexuq1wtf	Teebi Al-Saleh Hassoon syndrome|Teebi-Al Saleh-Hassoon syndrome|macrosomia with lethal microphthalmia|macrosomia microphthalmia cleft palate|macrosomia with microphthalmia, lethal											Orphanet:2432|MESH:C537830|UMLS:C1855467|ICD10:Q87.0|GARD:0000177|OMIM:248110																		owl:Class
MONDO:0008152	biolink:NamedThing	multicentric carpo-tarsal osteolysis with or without nephropathy	Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	mondoexuq1wtf	Carnevale canun Mendoza syndrome|osteolysis, hereditary, of carpal bones with or without nephropathy|idiopathic multicentric osteolysis with or without nephropathy|multicentric osteolysis nephropathy|multicentric carpotarsal osteolysis syndrome|MCTO|multicentric carpo-tarsal osteolysis with or without nephropathy|multicentric osteolysis, autosomal dominant											MESH:C567171|UMLS:C2674705|Orphanet:2774|DOID:0111534|GARD:0003818|OMIM:166300|GARD:0013042|SCTID:766992008														https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy				owl:Class
MONDO:0019707	biolink:NamedThing	primary osteolysis		mondoexuq1wtf												Orphanet:93449																		owl:Class
MONDO:0001284	biolink:NamedThing	endometriosis of intestine	Endometriosis that affects the intesines.	mondoexuq1wtf	endometriosis (disease) of intestine|intestine endometriosis (disease)											ICD9:617.5|SCTID:5562006|UMLS:C0156347|DOID:11428|COHD:194421|ICD10:N80.5																		owl:Class
MONDO:0005133	biolink:NamedThing	endometriosis	The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.	mondoexuq1wtf	endometriosis|endometriosis (disease)		endometriosis (disease)									ICD10:N80.9|ICD10:N80|COHD:433527|ICD9:617.8|ICD9:617.9|DOID:289|EFO:0001065|HP:0030127|SCTID:129103003|MESH:D004715|NCIT:C3014|ICD9:617																		owl:Class
MONDO:0011691	biolink:NamedThing	amyotrophic lateral sclerosis type 3		mondoexuq1wtf	ALS3|amyotrophic lateral sclerosis 3											DOID:0060195|GARD:0010501|OMIM:606640|MESH:C564688														https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3				owl:Class
MONDO:0010539	biolink:NamedThing	X-linked mandibulofacial dysostosis	X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.	mondoexuq1wtf	mandibulofacial dysostosis, X-linked|X-linked branchial arch syndrome|mandibulofacial dysostosis, Toriello type|MFD Toriello type|branchial arch syndrome, X-linked|branchial arch syndrome X-linked|mandibulofacial dysostosis Toriello type|X-linked mandibulofacial dysostosis with limb anomalies											MESH:C537102|UMLS:C1844918|SCTID:719813003|OMIM:301950|ICD10:Q75.4|Orphanet:1131|GARD:0001002																		owl:Class
MONDO:0018335	biolink:NamedThing	deep dermatophytosis		mondoexuq1wtf	disseminated granulomatous dermatophytosis											Orphanet:397587|ICD10:B35.8																		owl:Class
MONDO:0021106	biolink:NamedThing	laminopathy	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.	mondoexuq1wtf												UMLS:CN236383|Orphanet:98301																		owl:Class
MONDO:0010270	biolink:NamedThing	syndromic X-linked intellectual disability 7	Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.	mondoexuq1wtf	intellectual disability X-linked syndromic 7|intellectual disability, X-linked, syndromic 7|intellectual disability, X-linked syndromic 7|X-linked intellectual disability, Ahmad type|Ahmad X-linked intellectual disability syndrome|Ahmad X-linked mental retardation syndrome|intellectual disability, obesity, hypogonadism, and tapering fingers|syndromic X-linked intellectual disability type 7|MRXS7|mental retardation X-linked syndromic 7|mental retardation, X-linked syndromic 7|mental retardation, X-linked, syndromic 7|mental retardation, obesity, hypogonadism, and tapering fingers											UMLS:C4304916|SCTID:719160009|MESH:C537449|Orphanet:85274|GARD:0009156|UMLS:C1846170|ICD10:Q87.8|DOID:0060808|OMIM:300218																		owl:Class
MONDO:0010081	biolink:NamedThing	subaortic stenosis, membranous		mondoexuq1wtf	subaortic stenosis, membranous											OMIM:271950|MESH:C564793																		owl:Class
MONDO:0025385	biolink:NamedThing	bluetongue	A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.	mondoexuq1wtf	tongue, blue|blue tongue											UMLS:C0005866|MESH:D001819																		owl:Class
MONDO:0100051	biolink:NamedThing	idiopathic mast cell activation syndrome	Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.	mondoexuq1wtf	idiopathic MACS				2018-07-17 21:46:53+00:00																									owl:Class
MONDO:0100004	biolink:NamedThing	mast cell activation syndrome	A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).	mondoexuq1wtf	MACS|disorder of mast cell activation|mast cell activation disease				2018-07-17 21:32:53+00:00							GARD:0012981																		owl:Class
MONDO:0009620	biolink:NamedThing	Say-Barber-Miller syndrome	Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.	mondoexuq1wtf	Say Barber Miller syndrome|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly hypogammaglobulinemia abnormal immunity											MESH:C536618|OMIM:251240|ICD10:Q87.8|GARD:0000239|SCTID:721903007|Orphanet:3132														https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome				owl:Class
MONDO:0019582	biolink:NamedThing	self-healing papular mucinosis	Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.	mondoexuq1wtf												ICD10:L98.5|Orphanet:90397																		owl:Class
MONDO:0019446	biolink:NamedThing	localized lichen myxedematosus	Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.	mondoexuq1wtf	papular mucinosis											GARD:0007321|ICD10:L98.5|Orphanet:86795																		owl:Class
MONDO:0003088	biolink:NamedThing	intramuscular hemangioma	A hemangioma arising from skeletal muscle.	mondoexuq1wtf	intramuscular angioma|intramuscular hemangioma (morphologic abnormality)											UMLS:C0205789|ICDO:9132/0|DOID:468|NCIT:C3699																		owl:Class
MONDO:0003096	biolink:NamedThing	deep hemangioma	A hemangioma arising from the deep soft tissues.	mondoexuq1wtf	deep hemangioma|deep angioma											NCIT:C6555|DOID:469|UMLS:C1333265																		owl:Class
MONDO:0001251	biolink:NamedThing	chronic apical periodontitis	Chronic form of periapical periodontitis.	mondoexuq1wtf	periapical periodontitis, chronic|chronic periapical periodontitis											ICD9:522.6|DOID:11269|ICD10:K04.5|COHD:137591|SCTID:718052004|UMLS:C0392492																		owl:Class
MONDO:0005593	biolink:NamedThing	chronic periodontitis	A chronic inflammatory process that affects the tissues that surround and support the teeth.	mondoexuq1wtf	periodontitis, chronic											ICD10:K05.3|NCIT:C35326|ICD9:523.40|SCTID:5689008|MESH:D055113|COHD:138790|EFO:0006343|ICD9:523.4																		owl:Class
MONDO:0000244	biolink:NamedThing	endothrix infectious disease	A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.	mondoexuq1wtf												DOID:0050105																		owl:Class
MONDO:0000253	biolink:NamedThing	piedra	Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species.	mondoexuq1wtf	Piedras|Piedras, White|Piedras, black|hair shaft fungal infectious disease|black Piedras|piedra, White|steroid-modified tinea infection|White Piedras|black piedra|White piedra|piedra, black											UMLS:C0031898|SCTID:402135006|MESH:D010854																		owl:Class
MONDO:0011662	biolink:NamedThing	pathological gambling	A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.	mondoexuq1wtf	pathological gambling|compulsive gambling|gambling, pathologic											COHD:436959|EFO:1001926|SCTID:18085000|NCIT:C94335|ICD10:F63.0|ICD9:312.31|MESH:D005715|OMIM:606349|DOID:12399																		owl:Class
MONDO:0001162	biolink:NamedThing	impulse control disorder	A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.	mondoexuq1wtf	ICD|impulse-control disorder											ICD10:F63.9|SCTID:66347000|DOID:10937|NCIT:C34723|COHD:433752|ICD9:312.30|ICD9:312.39																		owl:Class
MONDO:0012913	biolink:NamedThing	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.	mondoexuq1wtf	WAGR syndrome with obesity|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome|WAGRO|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|chromosome 11P13-p12 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wagro syndrome											UMLS:C2675904|NCIT:C122804|MESH:C567292|OMIM:612469																		owl:Class
MONDO:0008681	biolink:NamedThing	WAGR syndrome	WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.	mondoexuq1wtf	WAGR syndrome|monosomy 11p13|WAGR|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|11p deletion|Del(11)(p13)|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|chromosome 11p deletion|chromosome 11p deletion syndrome|chromosome 11p13 deletion syndrome|11p deletion syndrome|11p monosomy|chromosome 11P13 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|WAGR Complex|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|deletion 11p|AGR triad|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|monosomy 11p|11p partial monosomy syndrome|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|deletion 11p13|partial monosomy 11p											MESH:D017624|SCTID:715215007|DOID:14515|OMIM:194072|ICD10:Q87.8|GARD:0001732|GARD:0005528|Orphanet:893|UMLS:C2931803|UMLS:C0206115|NCIT:C3718														https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome				owl:Class
MONDO:0020843	biolink:NamedThing	pseudomembranous diphtheritic conjunctivitis	Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.	mondoexuq1wtf	conjunctival diphtheria|pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria											ICD9:032.81|SCTID:7773002|UMLS:C0012554|NCIT:C34543																		owl:Class
MONDO:0001217	biolink:NamedThing	pseudomembranous conjunctivitis	Conjunctivitis that is characterized by formation of a pseudomembrane.	mondoexuq1wtf	conjunctivitis with pseudomembrane										MONDO:0022856	NCIT:C35196|GARD:0008446|DOID:11190|UMLS:C0155144|COHD:381568|ICD10:H10.22|ICD9:372.04|SCTID:72115001														https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane				owl:Class
MONDO:0002092	biolink:NamedThing	small intestine leiomyoma	A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	small intestine leiomyoma|leiomyoma of small bowel|leiomyoma of the small intestine|leiomyoma, small bowel|leiomyoma, small intestine|leiomyoma of small intestine|leiomyoma of the small bowel|small intestinal leiomyoma|small bowel leiomyoma											SCTID:424279009|DOID:1738|UMLS:C0238197|NCIT:C7725																		owl:Class
MONDO:0021501	biolink:NamedThing	benign neoplasm of small intestine	A benign neoplasm that involves the small intestine.	mondoexuq1wtf	benign neoplasm of the small intestine|benign small intestinal tumor|benign small intestine neoplasm|benign tumor of the small intestine|small intestine benign neoplasm|benign small intestinal neoplasm|benign tumor of small intestine|benign small intestine tumor											ICD9:211.2|UMLS:C0153944|SCTID:92385005|NCIT:C3600																		owl:Class
MONDO:0009230	biolink:NamedThing	fibrosclerosis, multifocal		mondoexuq1wtf	multifocal fibrosclerosis|retroperitoneal fibrosis, familial|mediastinal fibrosis, familial|fibrosclerosis, multifocal											GARD:0005697|MESH:C537375|OMIM:228800|SCTID:111210001|ICD10:M35.5|ICD9:710.8																		owl:Class
MONDO:0018848	biolink:NamedThing	IgG4-related retroperitoneal fibrosis	Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.	mondoexuq1wtf	idiopathic retroperitoneal fibrosis|Ormond's disease|Ormond disease|retroperitoneal fibrosis					Editor note: TODO consider splitting out RF as separate term						SCTID:197808006|GARD:0009568|Orphanet:49041|MESH:D012185|ICD10:N13.5|NCIT:C26876|MedDRA:10038979|ICD9:593.4																		owl:Class
MONDO:0006314	biolink:NamedThing	nasal cavity polyp	A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.	mondoexuq1wtf	polyp of nasal cavity|nasal polyp|polyp of the nasal cavity|nasal cavity polyp											MESH:D009298|ICD9:471.9|UMLS:C0027430|COHD:253788|EFO:1000391|ICD9:471.0|NCIT:C3256|SCTID:52756005																		owl:Class
MONDO:0002232	biolink:NamedThing	nasal cavity disease	A disease involving the nasal cavity.	mondoexuq1wtf	nasal cavity disorder|disorder of nasal cavity|disease or disorder of nasal cavity|nasal cavity disease|nasal cavity disease or disorder|disease of nasal cavity											DOID:2163|COHD:439407|SCTID:232340005|NCIT:C27102|UMLS:C0339820																		owl:Class
MONDO:0020257	biolink:NamedThing	supranuclear oculomotor palsy	Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.	mondoexuq1wtf	gaze palsy|supranuclear ocular palsy|supranuclear disorder of eye movement|conjugate gaze palsy					Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves						Orphanet:98687|GARD:0008403																		owl:Class
MONDO:0008965	biolink:NamedThing	CHARGE syndrome	CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).	mondoexuq1wtf	Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|CHARGE association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|Hall-Hittner syndrome|CHARGE syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association											OMIM:214800|Orphanet:138|ICD10:Q89.8|ICD9:759.89|ICD10:Q87.8|SCTID:47535005|MESH:D058747|MedDRA:10064063|NCIT:C75100|UMLS:C0265354|DOID:0050834|GARD:0000029																		owl:Class
MONDO:0015535	biolink:NamedThing	xanthoma disseminatum		mondoexuq1wtf	Montgomery syndrome											Orphanet:158003|GARD:0013186|SCTID:399970005|UMLS:C0043322|MedDRA:10052575|ICD10:D76.3														https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum				owl:Class
MONDO:0015531	biolink:NamedThing	non-Langerhans cell histiocytosis	Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).	mondoexuq1wtf	non-Langerhans-cell histiocytosis|histiocytosis, non-Langerhans-cell											ICD9:288.4|MESH:D015616|GARD:0008231|ICD10:D76.3|Orphanet:157987|DOID:4330|SCTID:127069007|UMLS:C0019624																		owl:Class
MONDO:0010220	biolink:NamedThing	Young syndrome	Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.	mondoexuq1wtf	azoospermia, obstructive, and chronic sinopulmonary infections|sinusitis-infertility syndrome|Barry-Perkins-Young syndrome|azoospermia obstructive and chronic sinopulmonary infections|azoospermia-sinopulmonary infections syndrome|young syndrome|Barry Perkins Young syndrome											GARD:0000341|MedDRA:10063689|MESH:C536718|OMIM:279000|ICD10:N46|SCTID:233666007|Orphanet:3471|UMLS:C0340037|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/341/young-syndrome				owl:Class
MONDO:0018407	biolink:NamedThing	male infertility due to obstructive azoospermia of genetic origin		mondoexuq1wtf	Male infertility due to impaired sperm transport of genetic origin											ICD10:N46|Orphanet:399998																		owl:Class
MONDO:0014642	biolink:NamedThing	candidiasis, familial, 9	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.	mondoexuq1wtf	CANDF9|IL17RC chronic mucocutaneous candidiasis (disease)|candidiasis, familial, 9|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|candidiasis, familial, type 9											OMIM:616445|UMLS:C4225324																		owl:Class
MONDO:0015279	biolink:NamedThing	chronic mucocutaneous candidiasis		mondoexuq1wtf	CMC|CANDF|chronic mucocutaneous candidiasis (disease)|familial CMC|chronic mucocutaneous candidiasis|familial chronic mucocutaneous candidiasis|familial candidiasis		chronic mucocutaneous candidiasis (disease)									OMIMPS:114580|MESH:D002178|DOID:2058|Orphanet:1334|MedDRA:10009007|UMLS:C0006845|NCIT:C34444|HP:0002728|SCTID:234568006|ICD10:B37.2																		owl:Class
MONDO:0012984	biolink:NamedThing	PHARC syndrome	Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	mondoexuq1wtf	polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|peripheral neuropathy, Fiskerstrand type|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|PHARC syndrome|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|PHARC											Orphanet:171848|UMLS:C2675204|DOID:0080181|MESH:C567203|OMIM:612674|SCTID:723452007																		owl:Class
MONDO:0033569	biolink:NamedThing	combined oxidative phosphorylation deficiency 49		mondoexuq1wtf	COXPD49|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49											OMIM:619024																		owl:Class
MONDO:0013787	biolink:NamedThing	psychomotor retardation, epilepsy, and craniofacial dysmorphism		mondoexuq1wtf	psychomotor retardation, epilepsy, and craniofacial dysmorphism|PMRED											UMLS:C3281055|OMIM:614501																		owl:Class
MONDO:0020760	biolink:NamedThing	skin squamous cell carcinoma in situ	Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.	mondoexuq1wtf	squamous cell carcinoma in situ of skin|skin squamous cell carcinoma in situ|skin squamous cell cancer in situ|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of the skin											NCIT:C2906																		owl:Class
MONDO:0010095	biolink:NamedThing	ataxia-tapetoretinal degeneration syndrome		mondoexuq1wtf	tapetoretinal degeneration with ataxia											UMLS:C1848932|OMIM:272600|MESH:C564788|Orphanet:1178																		owl:Class
MONDO:0100309	biolink:NamedThing	hereditary ataxia	An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.	mondoexuq1wtf	rare hereditary ataxia|SCA							http://orcid.org/0000-0001-5208-3432				MESH:C531684|DOID:0050951|SCTID:763597000|GARD:0006614|ICD10:G11|GARD:0010748|Orphanet:183518														https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia				owl:Class
MONDO:0003504	biolink:NamedThing	anal canal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	neuroendocrine neoplasm of anal canal|anal neuroendocrine neoplasm|neuroendocrine neoplasm of the anus|anus neuroendocrine neoplasm|anal canal NET|neuroendocrine tumor of anus|anal neuroendocrine tumor|anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|anal canal neuroendocrine neoplasm|anus neuroendocrine tumor|neuroendocrine neoplasm of anus|anal canal neuroendocrine tumor											SCTID:717917007|DOID:5545|NCIT:C5603																		owl:Class
MONDO:0007108	biolink:NamedThing	anal canal carcinoma	A carcinoma that arises from epithelial cells of the anal canal	mondoexuq1wtf	anal canal carcinoma|cloacogenic carcinoma|anal canal cancer|obsolete carcinoma of the anal canal|carcinoma of anal canal|anal canal and perianal gland cancer|anal canal and perianal gland carcinoma|carcinoma of the anal canal											SCTID:285310000|DOID:6126|NCIT:C7489|Orphanet:424013|OMIM:105580																		owl:Class
MONDO:0002693	biolink:NamedThing	lateral sinus thrombosis	Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.	mondoexuq1wtf	thrombosis transverse sinus|thrombosis of lateral venous sinus											DOID:3574|UMLS:C0270639|MESH:D020227|SCTID:192761004																		owl:Class
MONDO:0002692	biolink:NamedThing	intracranial sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.	mondoexuq1wtf												DOID:3572|MESH:D012851|UMLS:C0037198																		owl:Class
MONDO:0003299	biolink:NamedThing	colorectal leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of large bowel|large intestine leiomyoma|large bowel leiomyoma|leiomyoma of the large intestine|colorectal leiomyoma|leiomyoma of the large bowel|colorectum leiomyoma|leiomyoma of large intestine											DOID:5143|UMLS:C1333113|NCIT:C5677																		owl:Class
MONDO:0000170	biolink:NamedThing	microphthalmia, isolated, with coloboma	A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	mondoexuq1wtf	microphthalmia with colobomatous cyst|microphthalmos bilateral, colobomatous orbital cyst|microphthalmia-anophthalmia-coloboma syndrome|colobomatous microphthalmia|MAC|MCOPCB1|microphthalmia associated with colobomatous cyst											Orphanet:98938|ICD10:Q11.2|UMLS:CN228419|MESH:C537463|GARD:0003644|DC:0000658|OMIMPS:300345														https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst				owl:Class
MONDO:0001476	biolink:NamedThing	coloboma	An abnormality in which a part of a structure in one or both eyes is missing.	mondoexuq1wtf	ocular coloboma|coloboma of the eye|congenital ocular coloboma|coloboma of macula|coloboma of eye											NCIT:C98877|Orphanet:194|ICD10:Q13.0|ICD9:743.49|SCTID:93390002|MESH:D003103|DOID:12270																		owl:Class
MONDO:0000807	biolink:NamedThing	latex allergy	Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.	mondoexuq1wtf						Editor note: TODO request						MESH:D020315|DOID:0060532|COHD:4102123|SCTID:300916003|ICD9:V15.07|ICD9:995.3|ICD9:989.82																		owl:Class
MONDO:0003722	biolink:NamedThing	internal auditory canal meningioma	A meningioma that affects the internal auditory canal.	mondoexuq1wtf	internal acoustic meatus meningioma (disease)|meningioma (disease) of internal acoustic meatus|meningioma of the internal auditory canal|meningioma of internal auditory canal											UMLS:C1334227|DOID:5990|NCIT:C5307																		owl:Class
MONDO:0024320	biolink:NamedThing	inner ear neoplasm	A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.	mondoexuq1wtf	internal Ear neoplasm|internal ear neoplasm|neoplasm of internal ear|internal ear neoplasm (disease)|tumor of internal ear|internal ear tumor|inner Ear neoplasm											UMLS:C1512779|NCIT:C39784																		owl:Class
MONDO:0008962	biolink:NamedThing	Griscelli syndrome type 1	A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.	mondoexuq1wtf	pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli-PruniC)ras syndrome type 1|partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli syndrome, type 1|hypopigmentation-neurologic impairment syndrome|GS1|Griscelli syndrome with neurologic impairment|Griscelli-Pruniéras syndrome type 1|Griscelli disease type 1|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome with neurological impairment|Griscelli syndrome, cutaneous and neurologic type											GARD:0002566|MESH:C537301|DOID:0060832|Orphanet:79476|OMIM:214450|UMLS:C1859194|ICD10:E70.3														https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1				owl:Class
MONDO:0018306	biolink:NamedThing	Griscelli syndrome	Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).	mondoexuq1wtf	Chédiak-Higashi-like syndrome|Griscelli-PruniC)ras syndrome|Ch��diak-Higashi-like syndrome|Griscelli-Pruniéras syndrome|ChC)diak-Higashi-like syndrome|Griscelli disease|Griscelli-Pruni��ras syndrome|partial albinism-immunodeficiency syndrome											ICD9:270.2|ICD10:E70.3|DC:0000356|Orphanet:381|GARD:0010913|OMIMPS:214450|UMLS:CN204933|SCTID:37548006|DOID:0060831														https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome				owl:Class
MONDO:0012643	biolink:NamedThing	hereditary spastic paraplegia 32	Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 32|hereditary spastic paraplegia type 32|spastic paraplegia 32, autosomal recessive|SPG32|autosomal recessive spastic paraplegia 32|spastic paraplegia 32											GARD:0012749|UMLS:C1970009|ICD10:G11.4|SCTID:726606003|UMLS:C4511958|MESH:C566983|OMIM:611252|Orphanet:171622|DOID:0110783																		owl:Class
MONDO:0011680	biolink:NamedThing	autosomal recessive congenital ichthyosis 3	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.	mondoexuq1wtf	ichthyosis, lamellar, 5, formerly|lamellar ichthyosis 5|ichthyosis, congenital, autosomal recessive 3|ARCI3|ichthyosis, congenital, autosomal recessive type 3|collodion baby, self-healing|autosomal recessive congenital ichthyosis type 3|ichthyosis, lamellar, 5											ICD10:Q80.2|DOID:0060711|OMIM:606545|MESH:C564699																		owl:Class
MONDO:0019306	biolink:NamedThing	congenital non-bullous ichthyosiform erythroderma	Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.	mondoexuq1wtf	lamellar ichthyosis|ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|non-bullous congenital ichthyosiform erythroderma|alligator skin|CIE|erythrodermic ichthyosis|lamellar desquamation of the newborn|nonbullous congenital ichthyosiform erythroderma|congenital ichthyosiform erythroderma (disease)|congenital ichthyosiform erythroderma											HP:0007431|ICD10:Q80.2|SCTID:205550003|DOID:1699|Orphanet:79394																		owl:Class
MONDO:0015755	biolink:NamedThing	myopathy with hexagonally cross-linked tubular arrays	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	mondoexuq1wtf												Orphanet:171889|SCTID:764994007|ICD10:G71.2																		owl:Class
MONDO:0019412	biolink:NamedThing	dysspondyloenchondromatosis	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	mondoexuq1wtf												SCTID:722434004|ICD10:Q78.4|Orphanet:85198|UMLS:C4302548																		owl:Class
MONDO:0001281	biolink:NamedThing	alternating exotropia	A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.	mondoexuq1wtf												COHD:377561|SCTID:37214009|DOID:1142|UMLS:C0152207|ICD10:H50.15|ICD9:378.15																		owl:Class
MONDO:0001286	biolink:NamedThing	exotropia	A form of strabismus in which the eyes are deviated laterally.	mondoexuq1wtf	divergent concomitant strabismus|divergent strabismus											UMLS:C0015310|DOID:1143|MESH:D005099|COHD:377294|ICD10:H50.1|ICD9:378.1|ICD9:378.10|NCIT:C34601|ICD10:H50.10|SCTID:399252000																		owl:Class
MONDO:0003596	biolink:NamedThing	spindle cell liposarcoma	A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.	mondoexuq1wtf	spindle cell liposarcoma											SCTID:404073009|NCIT:C27489|ICD9:171.9|UMLS:C1275275|DOID:5705																		owl:Class
MONDO:0001979	biolink:NamedThing	dumping syndrome	A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.	mondoexuq1wtf	dumping (jejunal) syndrome|jejunal syndrome											ICD10:K91.1|MESH:D004377|UMLS:C0013288|EFO:1001307|DOID:14495|NCIT:C2994																		owl:Class
MONDO:0011672	biolink:NamedThing	persistent polyclonal B-cell lymphocytosis	Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.	mondoexuq1wtf	PPBL|persistent polyclonal B-cell lymphocytosis|persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes											Orphanet:300324|UMLS:C1847973|OMIM:606445|SCTID:763864008|ICD10:I72.8|MESH:C564707																		owl:Class
MONDO:0043108	biolink:NamedThing	infantile striato thalamic degeneration		mondoexuq1wtf												Orphanet:1575|GARD:0003004																		owl:Class
MONDO:0008692	biolink:NamedThing	abetalipoproteinemia	Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.	mondoexuq1wtf	microsomal triglyceride transfer protein deficiency disease|abetalipoproteinemia|abetalipoproteinemia neuropathy|Bassen Kornzweig syndrome|acanthocytosis|familial hypobetalipoproteinemia|Bassen-Kornzweig syndrome|Betalipoprotein deficiency disease|Bassen-Kornzweig disease|MTP deficiency|ABL|homozygous familial hypobetalipoproteinemia|microsomal triglyceride transfer Protein deficiency|apolipoprotein B deficiency|congenital betalipoprotein deficiency syndrome											ICD10:E78.6|NCIT:C84525|Orphanet:14|UMLS:C0000744|OMIM:200100|DOID:1386|SCTID:190787008|GARD:0000005|MESH:D000012																		owl:Class
MONDO:0017774	biolink:NamedThing	hypobetalipoproteinemia	Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.	mondoexuq1wtf	hypo-beta-lipoproteinemia											MESH:D006995|ICD10:E78.6|SCTID:190786004|DOID:1390|Orphanet:31154|UMLS:C0020597																		owl:Class
MONDO:0012106	biolink:NamedThing	microcephaly 5, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.	mondoexuq1wtf	MCPH5|microcephaly 5, primary, autosomal recessive|ASPM autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in ASPM											OMIM:608716|UMLS:C1837501|DOID:0070280|MESH:C563871																		owl:Class
MONDO:0014741	biolink:NamedThing	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		mondoexuq1wtf	developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities|chromosome 10P12-p11 deletion syndrome|Desanto-Shinawi syndrome|DESANTO-SHINAWI syndrome|DESSH											Orphanet:466950|OMIM:616708|UMLS:CN242167|UMLS:C4225239																		owl:Class
MONDO:0015756	biolink:NamedThing	myeloid hemopathy		mondoexuq1wtf												Orphanet:171895																		owl:Class
MONDO:0002705	biolink:NamedThing	breast mucinous cystadenocarcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.	mondoexuq1wtf	breast mucinous cystadenocarcinoma											UMLS:C1511318|NCIT:C40354|DOID:3609																		owl:Class
MONDO:0004988	biolink:NamedThing	breast adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the breast	mondoexuq1wtf	adenocarcinoma of breast|mammary adenocarcinoma|breast adenocarcinoma|adenocarcinoma of the breast											NCIT:C5214|DOID:3458|EFO:0000304																		owl:Class
MONDO:0009835	biolink:NamedThing	subacute sclerosing panencephalitis	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	mondoexuq1wtf	Van Bogaert's sclerosing leukoencephalitis|SSPE|panencephalitis, SUBACUTE sclerosing|subacute sclerosing panencephalitis|Van Bogaert disease|Van Bogaert encephalitis|Immunosuppressive measles encephalitis|subacute sclerosing leukoencephalopathy|Subacute sclerosing leukoencephalitis|Subacute sclerosing panencephalitis (disorder) [ambiguous]|Subacute inclusion body encephalitis|Dawson disease|Dawson's encephalitis|Dawson encephalitis|Subacute sclerosing panencephalitis											OMIM:260470|COHD:373408|GARD:0007708|EFO:0007502|Orphanet:2806|NCIT:C85171|ICD9:046.2|ICD10:A81.1|MESH:D013344|DOID:8970|UMLS:C0038522														https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis				owl:Class
MONDO:0015659	biolink:NamedThing	infectious disease with epilepsy		mondoexuq1wtf												UMLS:CN200068|Orphanet:166490																		owl:Class
MONDO:0007507	biolink:NamedThing	absence of fingerprints-congenital milia syndrome	Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	mondoexuq1wtf	ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|absence of fingerprints congenital milia|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities|absence of dermatoglyphics congenital milia|absence of dermatoglyphics-congenital milia syndrome|Baird syndrome|Basan syndrome											Orphanet:1658|ICD10:Q82.8|GARD:0002336|OMIM:129200|SCTID:239011004|MESH:C537659														https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia				owl:Class
MONDO:0016221	biolink:NamedThing	temporomandibular joint anomaly		mondoexuq1wtf												Orphanet:210581																		owl:Class
MONDO:0019786	biolink:NamedThing	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.	mondoexuq1wtf												Orphanet:94066|ICD10:Q87.8																		owl:Class
MONDO:0001535	biolink:NamedThing	vagus nerve disease	A disease involving the vagus nerve.	mondoexuq1wtf	disorder of vagal nerve|disorder of vagus nerve|disorder of pneumogastric [10th] nerve|Vagus nerve disorder|disease or disorder of vagus nerve|disease of vagus nerve|vagus nerve disease|vagus nerve disease or disorder											NCIT:C27591|UMLS:C0152179|MESH:D020421|ICD9:352.3|COHD:432307|DOID:12491|SCTID:73765005|ICD10:G52.2																		owl:Class
MONDO:0002639	biolink:NamedThing	glossopharyngeal nerve disease	A disease involving the glossopharyngeal nerve.	mondoexuq1wtf	disease of glossopharyngeal nerve|disease or disorder of glossopharyngeal nerve|disorder of glossopharyngeal nerve|glossopharyngeal nerve disease or disorder|IX nerve disorder|glossopharyngeal nerve disorder|glossopharyngeal nerve disease|ninth nerve disorder											NCIT:C27211|UMLS:C0751941|SCTID:80962007|ICD9:352.2|DOID:3418|ICD9:352|ICD10:G52																		owl:Class
MONDO:0005660	biolink:NamedThing	Avulavirus infectious disease	Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.	mondoexuq1wtf												UMLS:C1258034|MESH:D045463|EFO:0007161																		owl:Class
MONDO:0005896	biolink:NamedThing	Paramyxoviridae infectious disease	Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.	mondoexuq1wtf	Paramyxoviridae disease or disorder|Paramyxoviridae caused disease or disorder											MESH:D018184|EFO:0007419																		owl:Class
MONDO:0018428	biolink:NamedThing	9q31.1q31.3 microdeletion syndrome		mondoexuq1wtf	monosomy 9q31.1q31.3|Del(9)(q31.1q31.3)											UMLS:CN226140|ICD10:Q93.5|Orphanet:401923																		owl:Class
MONDO:0015492	biolink:NamedThing	Anti-neutrophil cytoplasmic antibody-associated vasculitis	Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	mondoexuq1wtf	AAV|antineutrophil cytoplasmic antibody-associated vasculitis|ANCA-associated vasculitis											MESH:D056648|UMLS:C2717865|Orphanet:156152|GARD:0013011																		owl:Class
MONDO:0017038	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis		mondoexuq1wtf	secondary ILD in childhood and adulthood associated with a systemic vasculitis											UMLS:CN202349|Orphanet:264973																		owl:Class
MONDO:0020634	biolink:NamedThing	grade III meningioma	A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.	mondoexuq1wtf	grade III meningioma|WHO grade III meningioma|grade 3 meningioma|meningioma, malignant											NCIT:C38938																		owl:Class
MONDO:0019031	biolink:NamedThing	thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	mondoexuq1wtf	congenital dyserythropoietic anemia with thombocytopenia|X-linked congenital dyserythropoietic anemia with thrombocytopenia|XDAT											ICD10:D69.4|SCTID:722475006|UMLS:C4302508|Orphanet:67044																		owl:Class
MONDO:0007193	biolink:NamedThing	primary biliary cholangitis 1		mondoexuq1wtf	PBC1|Pbc|biliary cirrhosis, primary, 1											OMIM:109720|UMLS:CN029380																		owl:Class
MONDO:0005388	biolink:NamedThing	primary biliary cholangitis	Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.	mondoexuq1wtf	PBC|biliary liver cirrhosis|chronic non-suppurative destructive cholangitis|familial primary biliary cirrhosis|cholestatic cirrhosis|primary Bilary cirrhosis (PBC)|chronic nonsuppurative destructive cholangitis|biliary cirrhosis, primary|primary biliary cirrhosis|Hanot syndrome											DOID:12236|Orphanet:186|MedDRA:10019137|ICD9:571.6|OMIMPS:109720|ICD10:K74.5|ICD10:K74.3|UMLS:C0008312|MedDRA:10004661|SCTID:31712002|GARD:0007459|EFO:0004267|NCIT:C27167|COHD:4135822|MESH:D008105																		owl:Class
MONDO:0019225	biolink:NamedThing	gluconeogenesis disorder	An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis.	mondoexuq1wtf	inborn error of gluconeogenesis|rare inborn error of gluconeogenesis|inborn gluconeogenesis disorder											Orphanet:79177|UMLS:CN227592|ICD10:E74.4																		owl:Class
MONDO:0002908	biolink:NamedThing	glucose metabolism disease	A metabolic disorder characterized by abnormal blood glucose levels.	mondoexuq1wtf	disorder of glucose metabolism|glucose metabolism disorder											ICD9:271.8|UMLS:C1257958|SCTID:126877002|DOID:4194|MESH:D044882|NCIT:C53655																		owl:Class
MONDO:0001180	biolink:NamedThing	bullous keratopathy	Keratopathy that is characterized by the presence of epithelial bullae.	mondoexuq1wtf												COHD:375815|NCIT:C26970|UMLS:C0155111|ICD10:H18.1|ICD9:371.23|DOID:11031|SCTID:57207003																		owl:Class
MONDO:0006712	biolink:NamedThing	corneal edema	Hazy, swollen cornea.	mondoexuq1wtf	corneal oedema											MESH:D015715|ICD9:371.2|EFO:1000879|SCTID:27194006|UMLS:C0010037|COHD:380102|DOID:11030|ICD10:H18.20|MedDRA:10011007|ICD9:371.20																		owl:Class
MONDO:0010172	biolink:NamedThing	VACTERL with hydrocephalus	VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.	mondoexuq1wtf	Vater association with hydrocephalus|VACTERL hydrocephaly|VACTERL-H|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|Vater association with macrocephaly and ventriculomegaly|VACTERL association with hydrocephaly|VACTERL association with hydrocephalus|Sujansky-Leonard syndrome											Orphanet:3412|GARD:0000272|ICD10:Q87.8|UMLS:C1848599|OMIM:276950																		owl:Class
MONDO:0010301	biolink:NamedThing	thrombocythemia, X-linked		mondoexuq1wtf	thrombocythemia, X-linked|THCYTX|thrombocytosis, X-linked											UMLS:C1845888|OMIM:300331																		owl:Class
MONDO:0019111	biolink:NamedThing	familial thrombocytosis	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	mondoexuq1wtf	thrombocythemia|hereditary thrombocythemia|hereditary thrombocytosis|hereditary thrombocytosis disease|familial thrombocythemia|THCYT											SCTID:720950009|Orphanet:71493|ICD10:D75.2|OMIMPS:187950|UMLS:CN205627																		owl:Class
MONDO:0019799	biolink:NamedThing	hepatoerythropoietic porphyria	Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.	mondoexuq1wtf	hep											SCTID:111386004|DOID:5230|GARD:0006169|UMLS:C0162569|ICD10:E80.2|NCIT:C84754|Orphanet:95159|MESH:D017121																		owl:Class
MONDO:0015104	biolink:NamedThing	porphyria cutanea tarda	Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	mondoexuq1wtf	porphyria cutania tarda|PCT					Editor notes: ORDO classifies as inherited but in fact many forms are inherited						MESH:D017119|ICD10:E80.1|Orphanet:101330|UMLS:C0162566|SCTID:61860000|MedDRA:10036183|DOID:3132|ONCOTREE:PCT|GARD:0007433|NCIT:C27725																		owl:Class
MONDO:0022874	biolink:NamedThing	corpus callosum dysgenesis hypopituitarism		mondoexuq1wtf												GARD:0001542														https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism				owl:Class
MONDO:0009595	biolink:NamedThing	cartilage-hair hypoplasia	Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.	mondoexuq1wtf	CHH|cartilage hair hypoplasia like syndrome|cartilage-hair hypoplasia|autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, McKusick type|metaphyseal chondrodysplasia, Mckusick type|metaphyseal chondrodysplasia McKusick type|McKusick type metaphyseal chondrodysplasia|cartilage hair hypoplasia											OMIM:250250|SCTID:7720002|Orphanet:175|NCIT:C61245|UMLS:C0220748|DOID:14773|GARD:0006996|MESH:C535916|MedDRA:10069596|ICD10:Q78.8														https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia				owl:Class
MONDO:0013283	biolink:NamedThing	immunodeficiency, common variable, 3		mondoexuq1wtf	immunodeficiency, common variable, 3|immunodeficiency, common variable, type 3|antibody deficiency due to CD19 defect|CVID3											OMIM:613493|UMLS:C3150738																		owl:Class
MONDO:0012735	biolink:NamedThing	Temple-Baraitser syndrome	Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	mondoexuq1wtf	severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|TMBTS|Temple-Baraitser syndrome|severe intellectual disability and absent nails of hallux and pollex|intellectual disability, severe, and absent nails of hallux and pollex|mental retardation, severe, and absent nails of hallux and pollex|severe mental retardation and absent nails of hallux and pollex											GARD:0009441|OMIM:611816|UMLS:C2678486|EFO:0009062|ICD10:Q87.2|Orphanet:420561|MESH:C567516																		owl:Class
MONDO:0009579	biolink:NamedThing	Frank-Ter Haar syndrome	Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	mondoexuq1wtf	Frank Ter Haar syndrome|megalocornea, multiple skeletal anomalies, and developmental delay|FTHS|Melnick-Needles syndrome, autosomal recessive, formerly|Borrone Dermatocardioskeletal syndrome|FRANK-TER Haar syndrome|Ter Haar syndrome|Frank-Ter Haar syndrome|autosomal recessive Melnick-Needles syndrome (formerly)|Melnick-Needles syndrome, autosomal recessive											ICD10:Q87.8|MESH:C537274|Orphanet:137834|DOID:0111789|SCTID:720958002|GARD:0005138|OMIM:249420|UMLS:C1855305														https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome				owl:Class
MONDO:0018205	biolink:NamedThing	distal monosomy 1q	1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.	mondoexuq1wtf	distal monosomy type 1q|telomeric deletion 1q|distal deletion 1q|monosomy 1qter											SCTID:717633007|ICD10:Q93.5|Orphanet:36367|UMLS:C4273897																		owl:Class
MONDO:0005917	biolink:NamedThing	placenta disease	A disease involving the placenta.	mondoexuq1wtf	placenta disorders|disease of placenta|diseases, placenta|placenta disorder|placenta diseases|disorder of placenta|placental diseases|diseases, placental|placental disorder|disorders, placenta|disorder, placenta|placenta disease|disease, placental|placental disease|disease or disorder of placenta|disease, placenta|placenta disease or disorder											NCIT:C26857|ICD9:656.70|EFO:0007441|ICD10:O43.90|ICD10:O43.9|SCTID:125586008|MESH:D010922|ICD10:O43|GARD:0007402|ICD9:646.9|DOID:780																		owl:Class
MONDO:0004449	biolink:NamedThing	intraductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.	mondoexuq1wtf												NCIT:C40387|UMLS:C1512935|DOID:8068																		owl:Class
MONDO:0004262	biolink:NamedThing	breast myoepitheliosis	A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.	mondoexuq1wtf	breast myoepitheliosis											UMLS:C1513799|DOID:7521|NCIT:C40385																		owl:Class
MONDO:0008840	biolink:NamedThing	ataxia telangiectasia	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.	mondoexuq1wtf	AT, complementation group D|ataxia-telangiectasia|cerebello-oculocutaneous telangiectasia|AT, complementation group E|Louis-Bar syndrome|ataxia telangiectasia|boder-Sedgwick syndrome|AT, complementation group C|AT1|Louis Bar syndrome|ataxia - telangiectasia variant|AT|immunodeficiency with ataxia telangiectasia|AT, complementation group A|ataxia - telangiectasia|ataxia telangiectasia syndrome											NCIT:C2887|MESH:D001260|ICD10:G11.3|UMLS:C0004135|ICD9:334.8|Orphanet:100|OMIM:208900|SCTID:68504005|MedDRA:10003594|GARD:0005862|DOID:12704														https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia				owl:Class
MONDO:0010380	biolink:NamedThing	cataract, ataxia, short stature, and intellectual disability		mondoexuq1wtf	cataracts, ataxia, short stature, and mental retardation|cataract, ataxia, short stature, and intellectual disability|Casm syndrome|cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and intellectual disability											GARD:0010222|UMLS:C1845094|MESH:C535345|OMIM:300619																		owl:Class
MONDO:0016683	biolink:NamedThing	gliomatosis cerebri	A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)	mondoexuq1wtf	gliomatosis cerebri|gliomatosis|astrocytosis cerebri|gliomatosis cerebri (morphologic abnormality)											MedDRA:10066254|ICD10:C71.0|UMLS:C0334576|GARD:0006514|DOID:6128|NCIT:C4318|ICDO:9381/3|Orphanet:251582														https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri				owl:Class
MONDO:0007806	biolink:NamedThing	hypotrichosis 4	Any hypotrichosis in which the cause of the disease is a mutation in the HR gene.	mondoexuq1wtf	hypotrichosis, Marie Unna type, 1|Marie Unna hereditary hypotrichosis 1|Muhh1|HR hypotrichosis|hypotrichosis type 4|hypt4|hypotrichosis caused by mutation in HR|HYPT4|hypotrichosis 4					Editor note: consider merging into MUHH						MESH:C567718|OMIM:146550|UMLS:C2750815|DOID:0110701																		owl:Class
MONDO:0033641	biolink:NamedThing	cleft palate, proliferative retinopathy, and developmental delay		mondoexuq1wtf	CPPRDD											OMIM:619074																		owl:Class
MONDO:0004867	biolink:NamedThing	upper respiratory tract disease	A disease involving the upper respiratory tract.	mondoexuq1wtf	disease or disorder of upper respiratory tract|upper respiratory tract disease or disorder|upper respiratory tract disease|disorder of upper respiratory tract|disease of upper respiratory tract											ICD9:478.1|ICD9:478.19|DOID:974|ICD9:478.9|SCTID:201060008																		owl:Class
MONDO:0001466	biolink:NamedThing	punctate epithelial keratoconjunctivitis		mondoexuq1wtf	punctate keratitis|Thygeson superficial punctate keratitis|Thygeson's superficial punctate keratitis											ICD10:H16.14|SCTID:416069001|ICD9:370.21|DOID:12197|UMLS:C0259799|COHD:375265																		owl:Class
MONDO:0001465	biolink:NamedThing	superficial keratitis		mondoexuq1wtf												UMLS:C0155074|SCTID:27019000|DOID:12196|COHD:374643|ICD9:370.20|ICD10:H16.10																		owl:Class
MONDO:0005829	biolink:NamedThing	louping ill	An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.	mondoexuq1wtf	Louping ill											UMLS:C0024025|MESH:D008146|DOID:10250|ICD10:A84.8|EFO:0007348|ICD9:063.1																		owl:Class
MONDO:0025294	biolink:NamedThing	tick-borne infectious disease	Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.	mondoexuq1wtf	infections, Tick-borne|diseases, Tick-borne|Tick-borne infections|infections, Tick borne|Tick borne infections|Tick-borne infection|Tick-borne disease|disease, Tick-borne|Tick borne diseases|infection, Tick-borne											MESH:D017282																		owl:Class
MONDO:0019438	biolink:NamedThing	AL amyloidosis	AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.	mondoexuq1wtf	primary systemic amyloidosis|Light chain amyloidosis|primary amyloidosis|amyloidosis primary systemic|primary systemic AL amyloidosis|Light-chain amyloidosis|primary amyloidosis (formerly)|primary AL amyloidosis|amyloidosis AL|systemic AL amyloidsis											MESH:C531616|MedDRA:10036673|UMLS:C0268381|GARD:0005797|ICD10:E85.9|Orphanet:85443																		owl:Class
MONDO:0006889	biolink:NamedThing	paraphimosis	A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.	mondoexuq1wtf												DOID:5334|UMLS:C0030483|NCIT:C34893|EFO:1001086|MedDRA:10033890|ICD10:N47.2|MESH:D010263|SCTID:13758004																		owl:Class
MONDO:0006904	biolink:NamedThing	phimosis	A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.	mondoexuq1wtf	tight foreskin|tight frenulum											ICD10:N47.1|NCIT:C26852|EFO:1001104|MESH:D010688|MedDRA:10034878|SCTID:449826002|DOID:2712																		owl:Class
MONDO:0011784	biolink:NamedThing	Moyamoya disease 2	Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.	mondoexuq1wtf	MYMY2|Moyamoya disease caused by mutation in RNF213|Moyamoya disease type 2|Moyamoya disease 2|RNF213 Moyamoya disease											OMIM:607151|MESH:C536992|UMLS:C1846689																		owl:Class
MONDO:0016820	biolink:NamedThing	Moyamoya disease	Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.	mondoexuq1wtf	idiopathic Moyamoya disease|MYMY|progressive intracranial arterial occlusion|Moyamoya disease, primary|Moyamoya disease, secondary											MESH:D009072|ICD9:437.5|UMLS:C0026654|GARD:0007064|ICD10:I67.5|DOID:13099|SCTID:89142007|COHD:378774|NCIT:C84895|OMIMPS:252350|Orphanet:2573|MedDRA:10028047																		owl:Class
MONDO:0014261	biolink:NamedThing	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.	mondoexuq1wtf	SFXN4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 18|combined oxidative phosphorylation deficiency type 18|COXPD18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4											OMIM:615578|ICD10:E88.8|UMLS:C3810001|Orphanet:391348|DOID:0111484																		owl:Class
MONDO:0008396	biolink:NamedThing	oculodental syndrome, Rutherfurd type	Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.	mondoexuq1wtf	corneal dystrophy with gum Hypertrophy|gingival hypertrophy-corneal dystrophy|gingival Hypertrophy with corneal dystrophy|gingival hypertrophy corneal dystrophy|Rutherfurd syndrome|corneal dystrophy with gum hypertrophy											SCTID:699754008|GARD:0000212|OMIM:180900|UMLS:C0796140|Orphanet:2709|MESH:C537732|ICD9:759.89|ICD10:Q87.8																		owl:Class
MONDO:0006842	biolink:NamedThing	lymphangiomyoma	A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.	mondoexuq1wtf	lymphangiomyoma|lymphangioleiomyoma											NCIT:C3204|ICDO:9174/0|MESH:D008203|UMLS:C0024223|EFO:1001027																		owl:Class
MONDO:0006359	biolink:NamedThing	neoplasm with perivascular epithelioid cell differentiation	A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.	mondoexuq1wtf	tumor with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor|neoplasm with perivascular epithelioid cell differentiation					MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002).						UMLS:C1300127|ONCOTREE:PECOMA|NCIT:C38150|MESH:D054973|Orphanet:595133|DOID:2643|ICD10:D21.9|EFO:1000464																		owl:Class
MONDO:0017941	biolink:NamedThing	chikungunya	An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.	mondoexuq1wtf	Chikungunya virus infectious disease|CHIKV infection|Chikungunya virus infection|CK|Chikungunya virus disease or disorder|Chikungunya fever|CHIK|Chikungunya virus caused disease or disorder|arbovirus A Chikungunya type											MESH:D065632|DOID:0050012|ICD10:A92.0|GARD:0006038|SCTID:111864006|UMLS:C0008055|Orphanet:324625|NCIT:C128422														https://rarediseases.info.nih.gov/diseases/6038/chikungunya				owl:Class
MONDO:0018093	biolink:NamedThing	arbovirus fever	Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.	mondoexuq1wtf	arbovirus fever|Arbovirosis											GARD:0000432|Orphanet:344|UMLS:CN227261														https://rarediseases.info.nih.gov/diseases/432/arbovirosis				owl:Class
MONDO:0007219	biolink:NamedThing	brachydactyly type A6	Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	mondoexuq1wtf	brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|OSEBOLD-Remondini syndrome|BDA6|Osebold-Remondini syndrome|brachydactyly, type A6|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities											ICD10:Q73.8|UMLS:C1862130|MESH:C537092|GARD:0000983|DOID:0110968|Orphanet:93382|OMIM:112910|SCTID:715722003														https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6				owl:Class
MONDO:0019696	biolink:NamedThing	acromesomelic dysplasia	Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type	mondoexuq1wtf	acromesomelic dwarfism											GARD:0000006|MESH:C535658|Orphanet:93437|DOID:0080049																		owl:Class
MONDO:0005912	biolink:NamedThing	phencyclidine abuse	The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.	mondoexuq1wtf	PCP abuse|phencyclidine abuse											MESH:D010623|SCTID:7071007|EFO:0007436|DOID:5062|ICD9:305.90																		owl:Class
MONDO:0002491	biolink:NamedThing	substance abuse	The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.	mondoexuq1wtf												DOID:302|ICD9:305.90|SCTID:66214007|COHD:4279309																		owl:Class
MONDO:0018029	biolink:NamedThing	congenital factor XIII deficiency	Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.	mondoexuq1wtf	factor XIII deficiency disease|fibrin stabilizing factor deficiency|factor XIII deficiency|hereditary factor XIII deficiency disease|deficiency, Laki-Lorand factor|fibrin-stabilizing factor deficiency											MESH:D005177|GARD:0010766|ICD10:D68.2|NCIT:C131633|DOID:2211|SCTID:50189006|ICD9:286.3|Orphanet:331																		owl:Class
MONDO:0010258	biolink:NamedThing	MEHMO syndrome	MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.	mondoexuq1wtf	intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|mental retardation, X-linked, syndromic 25|MEHMO syndrome|intellectual disability, X-linked, syndromic 20|syndromic X-linked mental retardation 25|intellectual disability, X-linked, syndromic, Borck type|MRXS25|syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|mental retardation, X-linked, syndromic 20|X-linked MEHMO syndrome|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|MRXSBRK|MEHMO|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|intellectual disability, X-linked, syndromic 25|mental retardation, X-linked, syndromic, Borck type|syndromic X-linked intellectual disability 25|syndromic X-linked intellectual disability 20|MRXS20											SCTID:722037004|UMLS:C4310813|OMIM:300987|UMLS:C1846278|MESH:C537451|DOID:0060801|ICD10:Q87.8|OMIM:300148|GARD:0009178|Orphanet:85282																		owl:Class
MONDO:0043452	biolink:NamedThing	chromosome 8, trisomy	A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.	mondoexuq1wtf	trisomy 8|chromosome 8 duplication											NCIT:C36396|SCTID:205649008|MESH:C537942																		owl:Class
MONDO:0017287	biolink:NamedThing	IgG4-related disease	A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.	mondoexuq1wtf	systemic IgG4-related plasmacytic syndrome|IgG4-related systemic sclerosing disease|IgG4-syndrome|Immunoglobulin G4-related sclerosing disease|IgG4-associated disease|IgG4-positive multiorgan lymphoproliferative syndrome|hyper-IgG4 disease|multifocal idiopathic fibrosclerosis|IgG4-related autoimmune disease|systemic IgG4-related sclerosing syndrome|IgG4-related systemic disease|multifocal fibrosclerosis|IgG4-related sclerosing disease											UMLS:C3203653|NCIT:C95992|DOID:0080356|Orphanet:284264|GARD:0012521|MedDRA:10071569|ORDO:284264																		owl:Class
MONDO:0054680	biolink:NamedThing	epiphyseal dysplasia, multiple, 7		mondoexuq1wtf	epiphyseal dysplasia, multiple, 7|multiple epiphyseal dysplasia 7|EDM7											DOID:0070302|OMIM:617719																		owl:Class
MONDO:0016648	biolink:NamedThing	multiple epiphyseal dysplasia	Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.	mondoexuq1wtf	Polyepiphyseal dysplasia|MED|multiple epiphyseal dysplasia|polyepiphyseal dysplasia|epiphyseal dysplasia, multiple|multiple epiphyseal dysplasia (disease)|EDM		multiple epiphyseal dysplasia (disease)									SCTID:59708000|OMIMPS:132400|GARD:0010756|Orphanet:251|MedDRA:10028197|DOID:12721|COHD:434161|ICD9:756.56|HP:0002654|ICD10:Q77.3																		owl:Class
MONDO:0002323	biolink:NamedThing	cherry hemangioma	A capillary hemangioma of the skin, presenting as a red papular lesion.	mondoexuq1wtf	cherry hemangioma|Senile angioma|Senile hemangioma|Senile naevus of skin|cherry angioma											UMLS:C0343082|SCTID:5050001|DOID:2495|NCIT:C4390																		owl:Class
MONDO:0002407	biolink:NamedThing	capillary hemangioma	A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.	mondoexuq1wtf	infantile hemangioma|capillary hemangioma|capillary hemangioma (morphologic abnormality)|congenital vascular naevus|congenital vascular hamartoma|cellular hemangioma of infancy|strawberry nevus|strawberry haemangioma|strawberry nevus of skin|cellular hemangioma of infancy (strawberry nevus)|juvenile hemangioma|capillary angioma											ICDO:9131/0|UMLS:C0206733|NCIT:C7457|SCTID:56975005|ICD10:Q82.5|MESH:D018324|DOID:2725																		owl:Class
MONDO:0002145	biolink:NamedThing	sex differentiation disease	A congenital disorder characterized by abnormalities in the development of the sexual characteristics.	mondoexuq1wtf	sexual differentiation disorder|sex differentiation disorder|disorders of sex development (DSD)|differences of Sex development|conditions affecting reproductive development|DSD|disorder of sex differentiation|intersex|disorder of sexual differentiation|disorder of sex development|intersex conditions|disorders of Sex development|CARD											GTR:AN1172969|MedDRA:10070597|UMLS:CN757797|MESH:D012734|NCIT:C103186|Orphanet:90771|SCTID:39179006|DOID:1923																		owl:Class
MONDO:0003691	biolink:NamedThing	childhood malignant mesenchymoma	A malignant mesenchymoma occurring in children.	mondoexuq1wtf	childhood malignant mesenchymoma|malignant mesenchymoma|malignant mesenchymoma of childhood|pediatric malignant mesenchymoma											UMLS:C0279991|NCIT:C8097|DOID:5893																		owl:Class
MONDO:0006517	biolink:NamedThing	childhood malignant neoplasm	A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).	mondoexuq1wtf	childhood malignant neoplasm|malignant neoplasm|malignant pediatric tumor|malignant pediatric neoplasm|malignant childhood neoplasm|malignant childhood tumor|childhood neoplasm, malignant|childhood cancer|pediatric cancer											UMLS:C0278704|NCIT:C4005|EFO:1000654																		owl:Class
MONDO:0024857	biolink:NamedThing	immature extragonadal teratoma	An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.	mondoexuq1wtf	immature extragonadal teratoma|malignant extragonadal teratoma|primary malignant extragonadal teratoma|extragonadal primary malignant teratoma											UMLS:C0855163|NCIT:C8884																		owl:Class
MONDO:0003514	biolink:NamedThing	malignant teratoma	A malignant form of teratoma.	mondoexuq1wtf	malignant extragonadal teratoma|teratoma, malignant											NCIT:C4287|DOID:5563																		owl:Class
MONDO:0000748	biolink:NamedThing	mastoiditis	Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.	mondoexuq1wtf	inflammation of mastoid process of temporal bone|mastoid process of temporal boneitis|mastoid process of temporal bone inflammation|mastoiditis (disease)|mastoiditis		mastoiditis (disease)									DOID:0060322|MESH:D008417|COHD:374655|ICD10:H70.90|ICD9:383.9|UMLS:C0024904|ICD10:H70.9|HP:0000265|NCIT:C128368|SCTID:52404001																		owl:Class
MONDO:0001705	biolink:NamedThing	pure red-cell aplasia	A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.	mondoexuq1wtf	PRCA|pure red cell aplasia|primary red cell aplasia|red cell hypoplasia											UMLS:C0034902|NCIT:C34974|SCTID:50715003|GARD:0007504|COHD:140065|ICD9:284.81|MESH:D012010|DOID:1340																		owl:Class
MONDO:0018789	biolink:NamedThing	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy		mondoexuq1wtf	COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy											UMLS:CN776856|Orphanet:477762																		owl:Class
MONDO:0018788	biolink:NamedThing	COL4A1 or COL4A2-related cerebral small vessel disease		mondoexuq1wtf	COL4A1 or COL4A2-related cerebral angiopathy											Orphanet:477759|UMLS:CN776854																		owl:Class
MONDO:0002847	biolink:NamedThing	skeletal muscle cancer	A malignant neoplasm arising from skeletal muscle.	mondoexuq1wtf	malignant skeletal muscle tumor|malignant neoplasm of the skeletal muscle|malignant neoplasm of skeletal muscle tissue|malignant skeletal muscle neoplasm|malignant skeletal muscle tissue neoplasm|skeletal muscle tissue cancer|malignant neoplasm of skeletal muscle|malignant tumor of skeletal muscle|malignant tumor of the skeletal muscle|cancer of skeletal muscle tissue											DOID:4043|UMLS:C1334619|NCIT:C6516																		owl:Class
MONDO:0021392	biolink:NamedThing	polyp of large intestine	A polyp that involves the large intestine.	mondoexuq1wtf	large bowel polyp|colorectal polyp|large intestine polyp|polyp of large bowel|polyp of the large bowel|polyp of the large intestine											NCIT:C5679|UMLS:C0949059|SCTID:399505005																		owl:Class
MONDO:0005079	biolink:NamedThing	polyp	A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.	mondoexuq1wtf	polyp											SCTID:441456002|NCIT:C3340|ICD10:N84|MESH:D011127|EFO:0000662																		owl:Class
MONDO:0001461	biolink:NamedThing	tinea corporis	A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.	mondoexuq1wtf	dermatophytosis of the trunk|dermatophytosis of the body											ICD10:B35.4|UMLS:C0546826|SCTID:84849002|DOID:12179|COHD:4224968|ICD9:110.5|UMLS:C0040252																		owl:Class
MONDO:0006183	biolink:NamedThing	disseminated peritoneal leiomyomatosis	A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.	mondoexuq1wtf	DPL|LPD|leiomyomatosis peritonealis disseminate|leiomyomatosis peritonealis disseminata|diffuse peritoneal leiomyomatosis|disseminated peritoneal leiomyomatosis											SCTID:62557001|EFO:1000220|UMLS:C0267785|DOID:5728|ICD10:D20.1|NCIT:C3958|GARD:0012843|Orphanet:71274																		owl:Class
MONDO:0000650	biolink:NamedThing	peritoneal benign neoplasm	A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.	mondoexuq1wtf	benign peritoneal neoplasm|peritoneum benign neoplasm											NCIT:C8612|UMLS:C0496874|DOID:0060117																		owl:Class
MONDO:0003843	biolink:NamedThing	cerebral hemisphere lipoma	A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.	mondoexuq1wtf	lipoma of cerebral hemisphere|cerebral hemisphere lipoma|lipoma of the cerebral hemisphere											UMLS:C1332907|NCIT:C6220|DOID:6291																		owl:Class
MONDO:0021497	biolink:NamedThing	benign neoplasm of cerebrum	A benign neoplasm that involves the telencephalon.	mondoexuq1wtf	benign neoplasm of the cerebral hemispheres|benign tumor of cerebral hemispheres|benign neoplasm of the cerebrum|telencephalon benign neoplasm|benign tumor of the cerebral hemispheres|benign cerebral tumor|benign tumor of cerebrum|benign neoplasm of cerebral hemispheres|benign cerebral hemispheric neoplasm|benign cerebral neoplasm|benign tumor of the cerebrum|benign cerebral hemispheric tumor											NCIT:C8548|UMLS:C0686378|SCTID:275269004																		owl:Class
MONDO:0009228	biolink:NamedThing	gingival fibromatosis-facial dysmorphism syndrome	Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.	mondoexuq1wtf	gingival fibromatosis with distinctive facies|fibromatosis, gingival, with distinctive facies|gingival fibromatosis with craniofacial dysmorphism											MESH:C565567|GARD:0010528|ICD10:Q87.0|Orphanet:2025|UMLS:C1856761|OMIM:228560														https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies				owl:Class
MONDO:0010689	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 4	X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.	mondoexuq1wtf	axonal motor sensory neuropathy with deafness and intellectual disability|cowchock syndrome|Charcot-Marie-Tooth disease with deafness and mental retardation|Charcot-Marie-Tooth disease with deafness and intellectual disability|Charcot-Marie-Tooth disease X-linked recessive type 4|neuropathy, axonal motor-sensory, with deafness and mental retardation|NAMSD|neuropathy, axonal motor-sensory, with deafness and intellectual disability|CMTX4|NADMR|axonal motor sensory neuropathy with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and mental retardation|COWCK|CMTX 4|X-linked Charcot-Marie-Tooth disease type 4|neuropathy, axonal motor-sensory with deafness and intellectual disability|Charcot-Marie-Tooth disease, X-linked recessive, 4|CMT4X											SCTID:763400005|ICD10:G60.0|OMIM:310490|GARD:0001240|DOID:0110212|Orphanet:101078																		owl:Class
MONDO:0033682	biolink:NamedThing	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		mondoexuq1wtf												Orphanet:508533																		owl:Class
MONDO:0001635	biolink:NamedThing	bladder squamous papilloma	A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.	mondoexuq1wtf	bladder squamous papilloma											UMLS:C1511199|DOID:13110|NCIT:C39834																		owl:Class
MONDO:0001825	biolink:NamedThing	squamous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.	mondoexuq1wtf	keratotic papilloma|epidermoid papilloma|epidermoid cell papilloma|squamous papilloma|papilloma, squamous cell, benign|squamous cell papilloma (morphologic abnormality)|squamous cell papilloma											NCIT:C3712|DOID:139|ICDO:8052/0|EFO:1001970|UMLS:C0205874																		owl:Class
MONDO:0004780	biolink:NamedThing	strictly posterior acute myocardial infarction		mondoexuq1wtf												DOID:9407|ICD9:410.60																		owl:Class
MONDO:0043174	biolink:NamedThing	Pfeiffer Tietze Welte syndrome		mondoexuq1wtf	sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th											UMLS:C2931657|GARD:0004308|MESH:C537891																		owl:Class
MONDO:0021559	biolink:NamedThing	non-autoimmune hemolytic anemia	Hemolytic anemia that is not mediated by immune mechanisms.	mondoexuq1wtf	Non-autoimmune hemolytic anemia|non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia											UMLS:C0028283|ICD9:283.10|SCTID:191216004|NCIT:C34853|ICD9:283.19																		owl:Class
MONDO:0007271	biolink:NamedThing	familial cutaneous collagenoma	Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.	mondoexuq1wtf	collagenoma, familial cutaneous											OMIM:115250|ICD10:L94.8|GARD:0009799|UMLS:C0406817|SCTID:239139000|Orphanet:53296|MESH:C562925														https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma				owl:Class
MONDO:0019292	biolink:NamedThing	dermis elastic tissue disorder		mondoexuq1wtf												UMLS:CN227616|Orphanet:79378																		owl:Class
MONDO:0020669	biolink:NamedThing	paranasal sinus cancer	A primary or metastatic malignant neoplasm involving the paranasal sinuses.	mondoexuq1wtf	malignant neoplasm of the paranasal sinus|malignant paranasal sinus tumor|malignant accessory sinus tumor|malignant neoplasm of the accessory sinus|malignant paranasal sinus neoplasm|malignant tumor of accessory sinus|malignant tumor of the accessory sinus|malignant accessory sinus neoplasm|malignant neoplasm of paranasal sinus|malignant neoplasm of accessory sinus|malignant tumor of the paranasal sinus|malignant tumor of paranasal sinus											NCIT:C7487																		owl:Class
MONDO:0005289	biolink:NamedThing	paranasal sinus neoplasm	A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	tumor of the paranasal sinus|neoplasm of accessory sinus|paranasal sinus tumor|tumor of accessory sinus|paranasal sinus neoplasm (disease)|accessory sinus neoplasm|paranasal sinus neoplasm|neoplasm of the accessory sinus|paranasal sinus neoplasms|tumor of paranasal sinus|tumor of the accessory sinus|neoplasm of the paranasal sinus|accessory sinus tumor|neoplasm of paranasal sinus		paranasal sinus neoplasm (disease)									DOID:1350|HP:0030072|EFO:0003866|UMLS:C0030470|SCTID:126675008|NCIT:C7488																		owl:Class
MONDO:0005541	biolink:NamedThing	spondylolysis	A defect in the pars interarticularis of a vertebral bone.	mondoexuq1wtf	spondylolysis|spondylolysis (disease)		spondylolysis (disease)									UMLS:C0038018|EFO:0005649|MESH:D013169|SCTID:240221008|HP:0003304|ICD10:M43.0|SCTID_2010_1_31:240221008|ICD10:M43.00|NCIT:C35034|DOID:2300																		owl:Class
MONDO:0045002	biolink:NamedThing	vertebral disease	A disease or disorder that involves the vertebra.	mondoexuq1wtf	disorder of vertebra|disease or disorder of vertebra|disease of vertebra|vertebra disease|vertebra disease or disorder											SCTID:430886005|UMLS:C2316319																		owl:Class
MONDO:0018288	biolink:NamedThing	congenital disorder of glycosylation with hepatic involvement		mondoexuq1wtf	CDG with hepatic involvement											ICD10:E77.8|Orphanet:371157																		owl:Class
MONDO:0013873	biolink:NamedThing	IMAGe syndrome	IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.	mondoexuq1wtf	IMAGe syndrome|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies											Orphanet:85173|SCTID:702384004|GARD:0012312|NCIT:C130988|ICD10:Q87.1|ICD9:759.89|UMLS:C1846009|OMIM:614732|DOID:0050885														https://rarediseases.info.nih.gov/diseases/12312/image-syndrome				owl:Class
MONDO:0021451	biolink:NamedThing	benign neoplasm of brain	A benign neoplasm that involves the brain.	mondoexuq1wtf	benign tumor of the brain|brain neoplasms, benign|benign neoplasm of the brain|benign brain tumor|brain benign neoplasm|benign brain neoplasm|benign tumor of brain											SCTID:92030004|NCIT:C4781|ICD9:225.0|EFO:1000107																		owl:Class
MONDO:0021211	biolink:NamedThing	brain neoplasm	A neoplasm (disease) that involves the brain.	mondoexuq1wtf	brain neoplasm (disease)|tumor of brain|tumor of the Brain|neoplasm of the brain|neoplasm of brain|brain neoplasms|brain tumor											COHD:373724|NCIT:C2907																		owl:Class
MONDO:0017523	biolink:NamedThing	polydactyly of a biphalangeal thumb, unilateral		mondoexuq1wtf	preaxial polydactyly type 1, unilateral											UMLS:CN203254|Orphanet:295144|ICD10:Q69.1																		owl:Class
MONDO:0008269	biolink:NamedThing	polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.	mondoexuq1wtf	polydactyly, preaxial 1|PPD1|Fromont anomaly|polydactyly, preaxial type 1|polydactyly, preaxial I|thenar hypoplasia|thumb polydactyly|polydactyly preaxial 1|preaxial polydactyly type 1|preaxial polydactyly 1											GARD:0004417|OMIM:174400|ICD10:Q69.1|Orphanet:93339|SCTID:445216006|MESH:C536332																		owl:Class
MONDO:0004196	biolink:NamedThing	rectal sarcomatoid carcinoma	A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.	mondoexuq1wtf	rectum sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|rectal sarcomatoid carcinoma|sarcomatoid carcinoma of the rectum|rectal spindle cell carcinoma|rectal sarcomatoid cancer											UMLS:C1335689|DOID:7356|NCIT:C5556																		owl:Class
MONDO:0005807	biolink:NamedThing	idiopathic CD4-positive T-lymphocytopenia	A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.	mondoexuq1wtf												MESH:D018344|DOID:3109|UMLS:C0206744|NCIT:C84780|EFO:0007322																		owl:Class
MONDO:0003780	biolink:NamedThing	T-cell immunodeficiency	A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	mondoexuq1wtf	T-lymphocyte deficiency (finding)|T-cell immunodeficiency|T lymphocyte deficiency|T-lymphocyte immunodeficiency											UMLS:C1274233|DOID:613|NCIT:C27145|SCTID:402792003																		owl:Class
MONDO:0017691	biolink:NamedThing	erythrocyte galactose epimerase deficiency		mondoexuq1wtf	erythrocyte epimerase deficiency galactosemia|erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte GALE-D|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE deficiency											UMLS:C0574090|ICD10:E74.2|Orphanet:308473|SCTID:297238008																		owl:Class
MONDO:0009257	biolink:NamedThing	galactose epimerase deficiency	Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.	mondoexuq1wtf	uridine diphosphate galactose-4-epimerase deficiency|galactosemia 3|GALE deficiency|GALE-D|epimerase deficiency galactosemia|galactosemia type 3|Gale deficiency|galactose epimerase deficiency|UDP-galactose-4-epimerase deficiency											SCTID:8849004|DOID:0111458|ICD10:E74.2|GARD:0005392|OMIM:230350|Orphanet:79238														https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency				owl:Class
MONDO:0007875	biolink:NamedThing	Larsen syndrome	Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.	mondoexuq1wtf	LRS|dominant Larsen syndrome|autosomal dominant Larsen syndrome|Larsen syndrome											DOID:14764|MESH:C580241|GARD:0006860|UMLS:C0175778|Orphanet:503|ICD10:Q74.8|ICD9:759.89|OMIM:150250|SCTID:63387002														https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome				owl:Class
MONDO:0019690	biolink:NamedThing	filamin-related bone disorder		mondoexuq1wtf	bone filaminopathy											Orphanet:93425|UMLS:CN227676																		owl:Class
MONDO:0013143	biolink:NamedThing	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency		mondoexuq1wtf	thrombophilia due to elevated histidine-rich glycoprotein|hereditary thrombophilia due to congenital HRG deficiency|thrombophilia due to histidine-rich glycoprotein deficiency|THPH11											OMIM:613116|MESH:C567737|Orphanet:217467|ICD10:D68.5																		owl:Class
MONDO:0015334	biolink:NamedThing	branchial arch or oral-acral syndrome		mondoexuq1wtf												Orphanet:139036|UMLS:CN199364																		owl:Class
MONDO:0010574	biolink:NamedThing	syndromic X-linked intellectual disability 5	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	mondoexuq1wtf	X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|intellectual disability, X-linked, syndromic 21|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|syndromic X-linked mental retardation fried type|MRXS5|PETTIGREW syndrome|mental retardation, X-linked, syndromic, fried type|intellectual disability X-linked syndromic 5|mental retardation, X-linked syndromic 5|X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|intellectual disability, X-linked syndromic 5|MRXS21|intellectual disability, X-linked 59|intellectual disability, X-linked, syndromic, fried type|X-linked mental retardation 59|mental retardation, X-linked, syndromic 5|syndromic X-linked intellectual disability fried type|mental retardation, X-linked, syndromic 21|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|syndromic X-linked intellectual disability type 5|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|X-linked intellectual disability 59|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|syndromic X-linked mental retardation 21|mental retardation X-linked syndromic 5|Pettigrew syndrome|syndromic X-linked intellectual disability 21|fried syndrome|MRX59|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|mental retardation, X-linked 59|intellectual disability, X-linked, syndromic 5|PGS					Editor note: check relationship to friend syndrome						UMLS:C0796254|GARD:0008520|UMLS:CN206181|ICD10:Q87.8|NCIT:C124839|ICD10:Q23.8|DOID:0060800|SCTID:719139003|Orphanet:1568|OMIM:304340|Orphanet:85329																		owl:Class
MONDO:0010954	biolink:NamedThing	Wiskott-Aldrich syndrome, autosomal dominant form		mondoexuq1wtf	Wiskott-Aldrich syndrome, autosomal dominant form											UMLS:C1833170|MESH:C563431|OMIM:600903																		owl:Class
MONDO:0021094	biolink:NamedThing	immunodeficiency disease	Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	mondoexuq1wtf	immunodeficiency syndrome|immunodeficiency|immunodeficiency disorder|immuno-deficiency											COHD:433740|OMIMPS:300755|NCIT:C3131|ICD9:279.3|SCTID:234532001																		owl:Class
MONDO:0013370	biolink:NamedThing	long QT syndrome 6	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.	mondoexuq1wtf	KCNE2 long QT syndrome|LQT6|long QT syndrome 3/6, digenic|long QT syndrome type 6|long QT syndrome 6|long QT syndrome caused by mutation in KCNE2|long QT syndrome 6, acquired, susceptibility to											OMIM:613693|MESH:C566333|DOID:0110648|UMLS:C3150953|HGNC:6242|ICD10:I45.8|GARD:0010434														https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6				owl:Class
MONDO:0020099	biolink:NamedThing	inherited sideroblastic anemia		mondoexuq1wtf	constitutional sideroblastic anemia					We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia.						ICD10:D64.0|OMIMPS:300751|Orphanet:98362														https://github.com/monarch-initiative/mondo/pull/2076				owl:Class
MONDO:0015194	biolink:NamedThing	sideroblastic anemia	Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.	mondoexuq1wtf	anemia, sideroblastic|anemia sideroblastic|sideroblastic anemia|anemia, hypochromic with iron loading											ICD10:D64.3|COHD:432282|DOID:8955|ICD10:D64.0|Orphanet:1047|ICD10:D64.2|MedDRA:10040661|ICD9:285.0|ICD10:D64.1|NCIT:C36078|GARD:0000667|OMIMPS:300751|SCTID:41841004|MESH:D000756|UMLS:C0002896																		owl:Class
MONDO:0009028	biolink:NamedThing	Crane-Heise syndrome	Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	mondoexuq1wtf	cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome											SCTID:715991005|GARD:0008428|OMIM:218090|Orphanet:1512|MESH:C536452|ICD10:Q87.5|UMLS:C1857532														https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome				owl:Class
MONDO:0012228	biolink:NamedThing	myopia 8		mondoexuq1wtf	myopia 8|MYP8											UMLS:C1836505|MESH:C563760|OMIM:609257																		owl:Class
MONDO:0005866	biolink:NamedThing	mycobacterium avium complex disease	An infection that is caused by Mycobacterium avium.	mondoexuq1wtf	Mycobacterium avium Complex|Mycobacterium avium infection|disseminated infection with mycobacterium avium complex|MAC disease|Mycobacterium avium complex infectious disease|DMAC|infection due to Mycobacterium intracellulare|Mycobacterium avium complex disease or disorder|Mycobacterium avium complex caused disease or disorder											MESH:D015270|EFO:0007386|ICD9:031.8|UMLS:C0026916|NCIT:C36197|GARD:0009236|DOID:2755|SCTID:373436002														https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex				owl:Class
MONDO:0022338	biolink:NamedThing	ALK+ histiocytosis		mondoexuq1wtf	anaplastic lymphoma kinase positive histiocytosis											GARD:0010577														https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis				owl:Class
MONDO:0100330	biolink:NamedThing	disease arising from reactivation of latent virus	An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.	mondoexuq1wtf	latent infection							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3251|https://github.com/monarch-initiative/mondo/issues/2950				owl:Class
MONDO:0004204	biolink:NamedThing	squamous cell skin papilloma	A squamous papilloma that involves the zone of skin.	mondoexuq1wtf	parakeratotic papilloma of skin|hyperkeratotic papilloma of the skin|squamous cell papilloma of the skin|Dyskeratotic papilloma of the skin|squamous cell papilloma of skin|parakeratotic papilloma of the skin|hyperkeratotic papilloma of skin|Dyskeratotic skin papilloma|Dyskeratotic papilloma of skin|hyperkeratotic skin papilloma|squamous cell skin papilloma|zone of skin squamous papilloma|parakeratotic skin papilloma											DOID:7380|SCTID:254661000|UMLS:C0345983|NCIT:C4462																		owl:Class
MONDO:0009741	biolink:NamedThing	neuroblastoma, susceptibility to		mondoexuq1wtf	neuroblastoma, susceptibility to, 1|susceptibility to neuroblastoma|neuroblastoma, susceptibility to											OMIM:256700																		owl:Class
MONDO:0017909	biolink:NamedThing	inherited glutathione synthetase deficiency	Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	mondoexuq1wtf	rare inborn error of glutathione synthase activity|GSSD|glutathione synthetase deficiency|oxoprolinase deficiency|inborn glutathione synthase activity disorder|pyroglutamicaciduria|pyroglutamic aciduria|5-oxoprolinuria|inborn error of glutathione synthase activity											GARD:0010047|MESH:C536835|Orphanet:32|UMLS:C0398746|SCTID:234589002|NCIT:C128193|ICD10:D55.1																		owl:Class
MONDO:0020105	biolink:NamedThing	hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies		mondoexuq1wtf												Orphanet:98370|ICD10:D55.1																		owl:Class
MONDO:0005815	biolink:NamedThing	pancreatic neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).	mondoexuq1wtf	malignant pancreatic endocrine tumor|endocrine pancreas neoplasm|islet cell tumor|neuroendocrine neoplasm of pancreas|tumor of endocrine pancreas|endocrine pancreas cancer|endocrine pancreas neoplasm (disease)|neoplasm of endocrine pancreas|malignant tumor of endocrine pancreas|pancreatic endocrine neoplasm|Islet of Langerhans tumor|endocrine pancreas tumor|pancreatic neuroendocrine neoplasm|Islet cell tumors|PNEN|islet cell neoplasm|islet cell tumour|pancreatic NEN					Editor note: classified as carcinoma in EFO						ICD10:C25.4|GARD:0007311|ICD10:D13.7|NCIT:C27031|ICDO:8150/1|DOID:1799|SCTID:254611009|EFO:0007331|Orphanet:506052																		owl:Class
MONDO:0100087	biolink:NamedThing	familial Alzheimer disease	A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.	mondoexuq1wtf	Alzheimer disease, familial|FAD|GARD:0000632							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0010787	biolink:NamedThing	Kearns-Sayre syndrome	Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.	mondoexuq1wtf	ophthalmoplegia, progressive external, with ragged-Red fibers|ophthalmoplegia plus syndrome|Kearns-Sayre syndrome|CPEO with myopathy|KSS|ophthalmoplegia-plus syndrome|CPEO with ragged-Red fibers|chronic progressive external ophthalmoplegia with myopathy|mitochondrial Cytopathy|CPEO with ragged red fibers|oculocraniosomatic syndrome|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|ophthalmoplegia, progressive external, with ragged red fibers											ICD10:H49.8|OMIM:530000|MESH:D007625|Orphanet:480|COHD:81539|MedDRA:10048804|ICD10:H49.81|DOID:12934|GARD:0006817|UMLS:C0022541|SCTID:25792000|NCIT:C84798														https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome				owl:Class
MONDO:0001125	biolink:NamedThing	acute gonococcal epididymo-orchitis	Acute form of gonococcal epididymo-orchitis.	mondoexuq1wtf	gonococcal epididymo-orchitis (acute)|gonococcal epididymo-orchitis, acute											DOID:10802|UMLS:C0153193|ICD9:098.13|SCTID:30168008																		owl:Class
MONDO:0021158	biolink:NamedThing	gonococcal epididymo-orchitis		mondoexuq1wtf												UMLS:C0341782|SCTID:236772009																		owl:Class
MONDO:0021078	biolink:NamedThing	glandular papilloma		mondoexuq1wtf	glandular papilloma											NCIT:C6880																		owl:Class
MONDO:0024276	biolink:NamedThing	glandular cell neoplasm		mondoexuq1wtf	glandular cell neoplasm|glandular cell epithelium neoplasm|glandular cell epithelial neoplasm|glandular cell tumor											NCIT:C7132|UMLS:C1333820|HP:0031493																		owl:Class
MONDO:0032906	biolink:NamedThing	spastic paraplegia 82, autosomal recessive		mondoexuq1wtf	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE|SPG82											OMIM:618770																		owl:Class
MONDO:0012864	biolink:NamedThing	chromosome 2q32-q33 deletion syndrome	2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.	mondoexuq1wtf	glass syndrome|Del(2)(q32q33)|SAS|monosomy 2q32-q33|monosomy 2q32q33|Del(2)(q32)|glass|2q32q33 microdeletion syndrome|2q32-q33 microdeletion syndrome|SATB2 syndrome|chromosome 2q32-q33 deletion syndrome|monosomy 2q32|2q32q33 microdeletion syndromes|SATB2-associated syndrome											MESH:C567350|Orphanet:251019|DOID:0060428|OMIM:612313|ICD10:Q93.5|UMLS:C2676739|GARD:0013206|SCTID:719659003|UMLS:C4304531																		owl:Class
MONDO:0015014	biolink:NamedThing	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		mondoexuq1wtf	COMMAD|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD											UMLS:C4310625|OMIM:617306																		owl:Class
MONDO:0018577	biolink:NamedThing	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		mondoexuq1wtf	PXE-like syndrome with retinitis pigmentosa											Orphanet:436274|UMLS:CN237597|ICD10:Q82.8																		owl:Class
MONDO:0004820	biolink:NamedThing	peripheral nerve schwannoma	A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	mondoexuq1wtf	peripheral nerve schwannoma					Editor note: consider merging into parent, though NCIT treats as two						NCIT:C41430|DOID:956|UMLS:C1519001																		owl:Class
MONDO:0011180	biolink:NamedThing	broad terminal phalanges, familial		mondoexuq1wtf	broad terminal phalanges, familial											MESH:C566588|UMLS:C1865923|OMIM:602071																		owl:Class
MONDO:0016919	biolink:NamedThing	partial deletion of the long arm of chromosome 21		mondoexuq1wtf	partial monosomy of the long arm of chromosome 21|partial deletion of the long arm of chromosome type 21|partial deletion of chromosome 21q|partial monosomy of chromosome 21q											Orphanet:262173|ICD10:Q93.5																		owl:Class
MONDO:0013889	biolink:NamedThing	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome		mondoexuq1wtf	short stature, optic nerve atrophy, and Pelger-Huet anomaly|soph syndrome|short stature-optic atrophy-Pelger-Huët anomaly syndrome|short stature with optic atrophy and Pelger-Huët anomaly syndrome|soph											OMIM:614800|ICD10:Q87.1|GARD:0010945|UMLS:C3541319|Orphanet:391677																		owl:Class
MONDO:0023704	biolink:NamedThing	Martinez Monasterio Pinheiro syndrome	A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings.	mondoexuq1wtf	cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations											MESH:C536027|UMLS:C2931089|GARD:0003404														https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome				owl:Class
MONDO:0000005	biolink:NamedThing	alopecia, isolated		mondoexuq1wtf												OMIMPS:203655|DC:0000016																		owl:Class
MONDO:0034121	biolink:NamedThing	NAD(P)HX dehydratase deficiency		mondoexuq1wtf	PEBEL2|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2											Orphanet:555402|OMIM:618321																		owl:Class
MONDO:0045018	biolink:NamedThing	creatine biosynthetic process disease	A disease that has its basis in the disruption of creatine biosynthetic process.	mondoexuq1wtf	creatine synthesis disease|disorder of creatine biosynthetic process|disorder of creatine synthesis											UMLS:C0574079|SCTID:297226004																		owl:Class
MONDO:0002303	biolink:NamedThing	central retinal vein occlusion	Blockage of the central retinal vein.	mondoexuq1wtf	retinal vein occlusion of central retinal vein|central retinal vein retinal vein occlusion|central retinal Venous occlusion											NCIT:C118859|UMLS:C0154841|ICD9:362.35|Orphanet:411527|DOID:2450|SCTID:68478007|COHD:313761|ICD10:H34.81																		owl:Class
MONDO:0004634	biolink:NamedThing	vein disease	A disease involving the vein.	mondoexuq1wtf	disease of vein|disease or disorder of vein|vein disease or disorder|vein disease|disorder of vein											ICD10:I82|SCTID:90507008|ICD9:453|UMLS:C0235522|DOID:866																		owl:Class
MONDO:0009782	biolink:NamedThing	ophthalmoplegia totalis with ptosis and miosis		mondoexuq1wtf	ophthalmoplegia totalis with ptosis and miosis											OMIM:258400|UMLS:C1850314|MESH:C564927																		owl:Class
MONDO:0015385	biolink:NamedThing	external auditory canal aplasia/hypoplasia		mondoexuq1wtf	external auditory canal stenosis/atresia											ICD10:Q16.1|Orphanet:141074																		owl:Class
MONDO:0020577	biolink:NamedThing	childhood gonadal germ cell tumor	A germ cell tumor that arises from the testis or ovary and occurs during childhood.	mondoexuq1wtf	childhood gonadal germ cell tumor|gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor											UMLS:C3899657|NCIT:C114801																		owl:Class
MONDO:0003751	biolink:NamedThing	childhood germ cell tumor	A germ cell tumor that occurs during childhood.	mondoexuq1wtf	germ cell tumor|childhood germ cell tumor|pediatric germ cell cancer|childhood germ cell neoplasm|pediatric germ cell tumor|pediatric germ cell neoplasm											UMLS:C0279014|NCIT:C7928|DOID:6053																		owl:Class
MONDO:0024540	biolink:NamedThing	Jervell and Lange-Nielsen syndrome 1	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	mondoexuq1wtf	KCNQ1 Jervell and Lange-Nielsen syndrome|Surdo-Cardiac syndrome|Jervell and Lange-Nielsen syndrome 1|Cardioauditory syndrome of Jervell and Lange-Nielsen|deafness, congenital, and functional heart disease|JLNS1|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|prolonged QT interval in Ekg and sudden death											OMIM:220400|UMLS:CN034131																		owl:Class
MONDO:0002441	biolink:NamedThing	Jervell and Lange-Nielsen syndrome	An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.	mondoexuq1wtf	Surdo-cardiac syndrome|Jervell Lange-Nielsen syndrome|deafness, congenital, and functional heart disease|Jervell and Lange Nielsen syndrome|prolonged QT interval in EKG and sudden death|JLNS1|long QT interval-deafness syndrome|Jervell and Lange-Nielsen syndrome type 1|Jervell-Lange Nielsen syndrome|Jervell and Lange-Nielsen syndrome 1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielson syndrome											GARD:0003048|SCTID:373905003|MESH:D029593|OMIMPS:220400|NCIT:C84793|DOID:2842|Orphanet:90647|UMLS:C0022387|ICD10:I45.8|MedDRA:10057936														https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome				owl:Class
MONDO:0005277	biolink:NamedThing	migraine disorder	A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.	mondoexuq1wtf	migraine variant|migraine|migraine headache|migraine disorder|migraine with or without aura											ICD10:G43.9|ICD9:346.9|MESH:D008881|NCIT:C89715|DOID:6364|ICD10:G43.909|EFO:0003821|ICD9:346|ICD10:G43																		owl:Class
MONDO:0007325	biolink:NamedThing	choreoathetosis, familial inverted		mondoexuq1wtf	choreoathetosis, familial inverted|infantile choreoathetosis of Fisher											MESH:C566127|UMLS:C1861569|OMIM:118750																		owl:Class
MONDO:0001595	biolink:NamedThing	choreatic disease	A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.	mondoexuq1wtf	hereditary benign chorea|benign familial chorea|BHC|hereditary progressive chorea without dementia|hereditary chorea|Bch|chorea, benign hereditary											NCIT:C84633|SCTID:230298007|ICD9:333.5|HP:0002072|Orphanet:1429|EFO:0004152|MESH:D002819|ICD10:G25.5|DOID:12859|SCTID:230306001																		owl:Class
MONDO:0005223	biolink:NamedThing	acute myeloid leukemia with minimal differentiation	An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)	mondoexuq1wtf	AML with minimal differentiation|AMLMD|M0 acute myelocytic leukemia|acute myeloid leukemia with minimal differentiation|M0 acute granulocytic leukemia|M0 myeloid leukemia with minimal differentiation|AML M0|acute myeloblastic leukemia, minimally differentiated|acute myelocytic leukemia with minimal differentiation|M0 acute myeloblastic leukemia|acute myeloblastic leukemia with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|M0 acute myelogenous leukemia with minimal differentiation|M0 myeloid leukemia|minimally differentiated acute myeloblastic leukemia|acute myeloid leukemia with minimal differentiation (MO)|acute myelogenous leukemia with minimal differentiation|acute myeloid leukemia, minimally differentiated|M0 acute myelogenous leukemia										MONDO:0020318	Orphanet:98832|ONCOTREE:AMLMD|NCIT:C8460|ICDO:9872/3|ICD10:C92.0|UMLS:C0522631|EFO:0003026																		owl:Class
MONDO:0011118	biolink:NamedThing	bilineal acute myeloid leukemia	An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003	mondoexuq1wtf	acute bilineal leukemia|bilineal acute leukemia											UMLS:C0349680|Orphanet:98836|ICD10:C95.0|NCIT:C6923																		owl:Class
MONDO:0013293	biolink:NamedThing	isolated microphthalmia 6	Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.	mondoexuq1wtf	PRSS56 isolated microphthalmia|isolated microphthalmia caused by mutation in PRSS56|posterior nonsyndromic microphthalmia|MCOP6|isolated microphthalmia type 6|microphthalmia, posterior nonsyndromic|microphthalmia, isolated 6|microphthalmia, isolated type 6											ICD10:Q11.0|UMLS:C3150757|OMIM:613517|DOID:0060835																		owl:Class
MONDO:0016764	biolink:NamedThing	isolated anophthalmia-microphthalmia syndrome	Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.	mondoexuq1wtf	nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|MAC spectrum|isolated pure microphthalmia|isolated anophthalmia - microphthalmia|clinical anophthalmia											ICD10:Q11.2|GARD:0012085|ICD10:Q11.0|ICD10:Q11.1|Orphanet:2542|UMLS:CN202019																		owl:Class
MONDO:0005870	biolink:NamedThing	necatoriasis	A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.	mondoexuq1wtf												ICD10:B76.1|ICD9:126.9|MESH:D009332|SCTID:36667009|DOID:2790|EFO:0007390|UMLS:C0027528|NCIT:C34838																		owl:Class
MONDO:0010781	biolink:NamedThing	ataxia and polyneuropathy, adult-onset		mondoexuq1wtf												MESH:C564020|DOID:0111750|OMIM:500010|UMLS:C1838916																		owl:Class
MONDO:0018747	biolink:NamedThing	acquired epidermolysis bullosa	Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.	mondoexuq1wtf	EBA|epidermolysis bullosa Aquisita|epidermolysis bullosa acquisita|EB acquisita|acquired epidermolysis bullosa											UMLS:C0079293|MESH:D016107|NCIT:C84690|ICD10:L12.3|Orphanet:46487|EFO:1000691|MedDRA:10056508|ICD9:695.19|DOID:4313|GARD:0006360|ICD10:L12.30|SCTID:2772003														https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita				owl:Class
MONDO:0019337	biolink:NamedThing	autoimmune bullous skin disease	An autoimmune disease characterized by blisters on the skin.	mondoexuq1wtf	bullous dermatosis|bullous skin disease											DOID:8502|ICD9:694.8|Orphanet:79669|EFO:1000673|ICD9:694.9|SCTID:7231009|UMLS:CN206006|COHD:137944																		owl:Class
MONDO:0012155	biolink:NamedThing	choanal atresia	Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.	mondoexuq1wtf	posterior choanal atresia|atresia of nares|PCA|imperforate nares|choanal atresia, POSTERIOR											Orphanet:137914|MedDRA:10008587|OMIM:608911|COHD:256810|MESH:D002754|ICD9:748.0|DOID:9574|ICD10:Q30.0|SCTID:204508009																		owl:Class
MONDO:0008667	biolink:NamedThing	von Hippel-Lindau disease	Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.	mondoexuq1wtf	Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome (VHL)|familial cerebelloretinal angiomatosis|von Hippel-Lindau syndrome|VHL|VON Hippel-Lindau syndrome|Hippel Lindau syndrome|Lindau disease|Von Hippel Lindau disease|cerebroretinal angiomatosis|Von Hippel-Lindau syndrome, Modifiers of|VHL syndrome											MESH:D006623|MedDRA:10047716|ICD10:Q85.8|DOID:14175|ICD9:759.6|NCIT:C3105|UMLS:C0019562|OMIM:193300|Orphanet:892|SCTID:46659004|GARD:0007855														https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease				owl:Class
MONDO:0016756	biolink:NamedThing	inherited nervous system cancer-predisposing syndrome		mondoexuq1wtf												Orphanet:252190|UMLS:CN202004																		owl:Class
MONDO:0009838	biolink:NamedThing	Parana hard-skin syndrome	A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.	mondoexuq1wtf	hard skin syndrome, Parana type|Parana hard-skin syndrome|hard-skin syndrome, Parana type|Parana hard skin syndrome|hard skin syndrome Parana type											ICD10:L91.8|NCIT:C126559|MESH:C564905|OMIM:260530|UMLS:C1850079|GARD:0002598|Orphanet:2812																		owl:Class
MONDO:0019299	biolink:NamedThing	unclassified genetic skin disorder		mondoexuq1wtf						Editor note: obsolete this						Orphanet:79385|UMLS:CN205933																		owl:Class
MONDO:0100010	biolink:NamedThing	tendinopathy	Disorders that are causes by overuse of tendons.	mondoexuq1wtf	disease of tendon|tendon disease or disorder|tendon disease|disease or disorder of tendon|disorder of tendon				2018-07-17 15:51:39+00:00							SCTID:68172002|EFO:1001434																		owl:Class
MONDO:0014782	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2X	Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES|muscular dystrophy, limb-girdle, type 2X|muscular dystrophy, limb-girdle, type 2x|LGMD2X|BVES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome											DOID:0110290|OMIM:616812|UMLS:C4225199|Orphanet:476084																		owl:Class
MONDO:0100244	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria	An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0024321	biolink:NamedThing	disorder of GPI anchor biosynthesis	A disease that has its basis in the disruption of GPI anchor biosynthetic process.	mondoexuq1wtf	disorder of GPI anchor biosynthetic process|GPI anchor biosynthetic process disease|GPIBD|glycosylphosphatidylinositol biosynthesis defect					May be inborn or somatic																								owl:Class
MONDO:0011092	biolink:NamedThing	ribbing disease	Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.	mondoexuq1wtf	hereditary multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple|multiple diaphyseal sclerosis|ribbing disease											MESH:C537613|OMIM:601477|GARD:0008494|UMLS:C1832273														https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease				owl:Class
MONDO:0100038	biolink:NamedThing	complex neurodevelopmental disorder	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).	mondoexuq1wtf					2018-06-29 18:21:11+00:00																									owl:Class
MONDO:0008786	biolink:NamedThing	pyridoxine-responsive sideroblastic anemia		mondoexuq1wtf	anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|anemia congenital sideroblastic B6-responsive|B6-responsive sideroblastic anemia|anemia, congenital sideroblastic, B6-responsive|sideroblastic anemia pyridoxine-responsive autosomal recessive											MESH:C565954|OMIM:206000|DOID:0060066|UMLS:C1859787|SCTID:191260004|UMLS:C0272027|GARD:0009872																		owl:Class
MONDO:0010948	biolink:NamedThing	cataract 10 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.	mondoexuq1wtf	CRYBA1 early-onset non-syndromic cataract|cataract, congenital zonular, with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|congenital zonular cataract with sutural opacities|cataract 10, multiple types|CTRCT10|CCZS											DOID:0110258|UMLS:C1833229|OMIM:600881|ICD10:Q12.0|MESH:C563435																		owl:Class
MONDO:0013685	biolink:NamedThing	pancreatic cancer, susceptibility to, 4	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.	mondoexuq1wtf	BRCA1 familial pancreatic carcinoma|susceptibility to pancreatic cancer 4|familial pancreatic carcinoma caused by mutation in BRCA1|pancreatic cancer, susceptibility to, type 4|PNCA4|pancreatic cancer, susceptibility to, 4											OMIM:614320																		owl:Class
MONDO:0008163	biolink:NamedThing	otofaciocervical syndrome	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	mondoexuq1wtf	OFC syndrome|Fara-Chlupackova syndrome											OMIMPS:166780|DC:0000698|ICD10:Q87.0|UMLS:C1833691|GARD:0004169|Orphanet:2792																		owl:Class
MONDO:0020204	biolink:NamedThing	conjunctival tumor	A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.	mondoexuq1wtf	conjunctiva neoplasm (disease)|conjunctival tumor|conjunctiva neoplasm|neoplasm of the conjunctiva|conjunctival neoplasm|conjunctival neoplasms|tumor of the conjunctiva|tumor of conjunctiva|conjunctiva tumor|neoplasm of conjunctiva											Orphanet:98616|NCIT:C2961																		owl:Class
MONDO:0027353	biolink:NamedThing	autosomal recessive dyskeratosis congenita 4	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.	mondoexuq1wtf	DKCB4					OMIM combines with with DKCA2						DOID:0070021																		owl:Class
MONDO:0015780	biolink:NamedThing	dyskeratosis congenita	Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.	mondoexuq1wtf	DKC|Zinsser Cole Engman syndrome|DC|Hoyeraal-Hreidarsson syndrome|Zinsser-Engman-Cole syndrome					Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist						GARD:0010905|MedDRA:10062759|NCIT:C111802|DOID:2729|UMLS:C0265965|OMIMPS:127550|Orphanet:1775|ICD10:Q82.8|MESH:D019871|SCTID:74911008														https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked				owl:Class
MONDO:0014816	biolink:NamedThing	split-foot malformation-mesoaxial polydactyly syndrome		mondoexuq1wtf	SFMMP|split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly											Orphanet:488232|UMLS:C4225167|OMIM:616890																		owl:Class
MONDO:0011363	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 3		mondoexuq1wtf	noninsulin-dependent diabetes mellitus 3|diabetes mellitus, noninsulin-dependent, type 3|diabetes mellitus, noninsulin-dependent, 3|NIDDM3											MESH:C566342|OMIM:603694|UMLS:C1863594																		owl:Class
MONDO:0009350	biolink:NamedThing	Holzgreve-Wagner-Rehder syndrome	A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.	mondoexuq1wtf	Complex congenital heart defect, renal agenesis and cleft lip and palate|Holzgreve syndrome|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome|Holzgreve Wagner Rehder syndrome											GARD:0002728|UMLS:C1856095|ICD10:Q87.8|OMIM:236110|Orphanet:2167|DOID:0060566|MESH:C535327																		owl:Class
MONDO:0007447	biolink:NamedThing	autosomal dominant vibratory urticaria	An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.	mondoexuq1wtf	vibratory urticaria, autosomal dominant|dermodistortive urticaria|angioedema, vibratory|VBU|vibratory angioedema|DDU											OMIM:125630|OMIM:193050|UMLS:C1852146|MESH:C536347|UMLS:C0473546|SCTID:238694002|Orphanet:493342|ICD9:995.1																		owl:Class
MONDO:0006618	biolink:NamedThing	vibratory urticaria	This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.	mondoexuq1wtf						Editor note: TODO add ECTO						EFO:1000775|ICD10:L50.4|COHD:139100|UMLS:C0157743|ICD9:708.4|SCTID:51247001|DOID:1554|Wikipedia:Urticaria#Vibratory_angioedema|GARD:0009806																		owl:Class
MONDO:0014058	biolink:NamedThing	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.	mondoexuq1wtf	fils|facial dysmorphism, immunodeficiency, livedo, and short stature|fils syndrome											ICD10:Q87.1|OMIM:615139|Orphanet:352712|UMLS:C3554576																		owl:Class
MONDO:0015736	biolink:NamedThing	intermediate nemaline myopathy	Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.	mondoexuq1wtf	Intermediate congenital NM|Intermediate congenital nemaline myopathy											GARD:0012823|ICD10:G71.2|Orphanet:171433																		owl:Class
MONDO:0017303	biolink:NamedThing	qualitative or quantitative defects of tropomyosin		mondoexuq1wtf												Orphanet:284790																		owl:Class
MONDO:0021156	biolink:NamedThing	hypophysitis	Inflammation of the pituitary gland.	mondoexuq1wtf	hypophysis cerebri|pituitary|hypophysis|pituitary gland|gland, pituitary|pituitary gland inflammation|hypophysitides|inflammation of pituitary gland|nervous system, pituitary					Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/						SCTID:237705001|NCIT:C12399|UMLS:C0342409|MESH:D000072659																		owl:Class
MONDO:0004846	biolink:NamedThing	placental abruption	Vaginal bleeding preceding the 20th week of gestation.	mondoexuq1wtf	placental abruption|abruptio placenta|Abruptio placentae, premature separation of placenta|premature separation of placenta|placental abruption (disease)|abruptio placentae		placental abruption (disease)									NCIT:C26685|ICD9:641.20|HP:0011419|ICD10:O20.0|MESH:D000037|DOID:9667|ICD9:640.03|EFO:1001754|ICD9:640.0|SCTID:415105001																		owl:Class
MONDO:0000934	biolink:NamedThing	laryngeal leiomyoma	A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	laryngeal leiomyoma|larynx leiomyoma|leiomyoma of the larynx|leiomyoma of larynx											NCIT:C6027|UMLS:C1334370|DOID:10070																		owl:Class
MONDO:0014172	biolink:NamedThing	spermatogenic failure 12	Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.	mondoexuq1wtf	spermatogenic failure type 12|NANOS1 azoospermia|azoospermia caused by mutation in NANOS1|SPGF12|spermatogenic failure 12											UMLS:C3809427|OMIM:615413|DOID:0070171																		owl:Class
MONDO:0016954	biolink:NamedThing	partial duplication of the long arm of chromosome 3	Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome 3q duplication|Duplication 3q|partial duplication of the long arm of chromosome type 3|partial duplication of chromosome 3q|partial trisomy of chromosome 3q|chromosome 3, trisomy 3q|trisomy 3q											UMLS:C0795809|GARD:0005345|MESH:C536813|Orphanet:262851																		owl:Class
MONDO:0016923	biolink:NamedThing	partial duplication of chromosome 3		mondoexuq1wtf	partial duplication of chromosome type 3|partial trisomy of chromosome 3											SCTID:726341009|Orphanet:262201																		owl:Class
MONDO:0024327	biolink:NamedThing	chronic renal failure syndrome	Impairment of the renal function due to chronic kidney damage.	mondoexuq1wtf	Chronic renal disease|kidney failure, chronic|chronic renal failure|chronic kidney failure|chronic renal failure disease|CRF - chronic renal failure											NCIT:C9438|MESH:D051436|ICD9:585.9|SCTID:90688005																		owl:Class
MONDO:0005300	biolink:NamedThing	chronic kidney disease	Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.	mondoexuq1wtf	CKD|chronic renal disease|chronic renal insufficiency|chronic kidney disease|chronic renal failure syndrome|renal failure - chronic|kidney disease, chronic|CKD - chronic kidney disease											MESH:D007676|NCIT:C80078|UMLS:C0022661|COHD:46271022|ICD9:585.6|DOID:784|SCTID:709044004|EFO:0003884|ICD10:N18.9|ICD9:585																		owl:Class
MONDO:0011038	biolink:NamedThing	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	mondoexuq1wtf	cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|CAPOS|cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss											GARD:0001188|Orphanet:1171|SCTID:720634003|MESH:C535351|OMIM:601338																		owl:Class
MONDO:0007167	biolink:NamedThing	atelosteogenesis type I	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.	mondoexuq1wtf	spondylohumerofemoral hypoplasia|atelosteogenesis, type 1|giant cell chondrodysplasia|AOI|atelosteogenesis type 1|spondylo-humero-femoral dysplasia|AO1|atelosteogenesis, type I											OMIM:108720|ICD10:Q78.8|Orphanet:1190|SCTID:725141006|MESH:C535396|GARD:0009287																		owl:Class
MONDO:0000389	biolink:NamedThing	atelosteogenesis		mondoexuq1wtf												UMLS:CN163181|OMIMPS:108720|SCTID:43814000|DOID:0050648																		owl:Class
MONDO:0015299	biolink:NamedThing	Asherman syndrome		mondoexuq1wtf	Asherman syndrome|intrauterine synechiae|Asherman's syndrome|uterine synechiae|intrauterine adhesions											MedDRA:10022821|UMLS:C0156372|MedDRA:10053868|ICD10:N85.6|SCTID:48236007|GARD:0005853|Orphanet:137686																		owl:Class
MONDO:0044113	biolink:NamedThing	bullous systemic lupus erythematosus	A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.	mondoexuq1wtf	BSLE|bullous systemic lupus erythematosus											SCTID:239889005|NCIT:C117104|UMLS:C0409977|EFO:0008619|Orphanet:46489																		owl:Class
MONDO:0007915	biolink:NamedThing	systemic lupus erythematosus	An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.	mondoexuq1wtf	disseminated lupus erythematosus|lupus erythematosus, systemic|excess lymphocyte low molecular weight DNA|systemic lupus erythematosus|systemic lupus erythematosus (disease)|SLE - lupus erythematosus, systemic|SLE|excess LMW-DNA		systemic lupus erythematosus (disease)									OMIM:152700|ICD10:M32.8|MESH:D008180|COHD:257628|ICD10:M32.1|ICD10:M32|Orphanet:536|ICD9:710.0|ICD10:M32.0|EFO:0002690|KEGG:05322|ICD10:M32.9|NCIT:C3201|HP:0002725|SCTID:55464009|DOID:9074																		owl:Class
MONDO:0008165	biolink:NamedThing	southeast Asian ovalocytosis	Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.	mondoexuq1wtf	elliptocytosis 4|he, stomatocytic|elliptocytosis, stomatocytic hereditary|Melanesian ovalocytosis|Melanesian elliptocytosis|ovalocytosis, southeast Asian|stomatocytic elliptocytosis|ovalocytosis, hereditary hemolytic|hereditary ovalocytosis|sao|ovalocytosis, Malaysian-Melanesian-Filipino type											UMLS:C1862323|Orphanet:98868|ICD10:D58.1|UMLS:C1833690|SCTID:191169008|ICD9:282.1|OMIM:166900																		owl:Class
MONDO:0017344	biolink:NamedThing	Epstein-Barr virus-associated carcinoma		mondoexuq1wtf	EBV-associated carcinoma											Orphanet:289651																		owl:Class
MONDO:0017342	biolink:NamedThing	Epstein-Barr virus-related tumor		mondoexuq1wtf	EBV-related tumor											UMLS:CN203004|Orphanet:289638																		owl:Class
MONDO:0012638	biolink:NamedThing	microphthalmia-brain atrophy syndrome	Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	mondoexuq1wtf	syndromic microphthalmia type 10|microphthalmia, syndromic 10|microphthalmia and brain atrophy|MOBA syndrome|MOBA|microphthalmia syndromic 10|MCOPS10											SCTID:720010009|MESH:C566985|GARD:0009292|ICD10:Q11.2|Orphanet:77299|OMIM:611222														https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10				owl:Class
MONDO:0000863	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.	mondoexuq1wtf	myopathy, lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis, and siderblastic anemia|MLASA|mitochondrial myopathy and sideroblastic anemia|MSA|myopathy with lactic acidosis and sideroblastic anemia|sideroblastic anemia and mitochondrial myopathy											DOID:0080099|MESH:C536101|GARD:0003885|UMLS:CN220387|ICD10:G71.3|Orphanet:2598|SCTID:724138007|OMIMPS:600462																		owl:Class
MONDO:0019704	biolink:NamedThing	primary bone dysplasia with decreased bone density		mondoexuq1wtf	primary osteodysplasia with decreased bone density|primary skeletal dysplasia with decreased bone density											Orphanet:93446																		owl:Class
MONDO:0014827	biolink:NamedThing	autosomal recessive spastic paraplegia type 76	Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	mondoexuq1wtf	hereditary spastic paraplegia type 76|SPG76|autosomal recessive spastic paraplegia 76|spastic paraplegia 76, autosomal recessive|hereditary spastic paraplegia 76|autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|CAPN1 autosomal recessive complex spastic paraplegia											DOID:0110821|EFO:0009019|Orphanet:488594|UMLS:C4310800|OMIM:616907																		owl:Class
MONDO:0011537	biolink:NamedThing	macrocephaly-autism syndrome	An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.	mondoexuq1wtf	macrocephaly-intellectual disability-autism syndrome|macrocephaly/autism syndrome											UMLS:C1854416|OMIM:605309|MESH:C565342|DOID:0060867|Orphanet:210548																		owl:Class
MONDO:0017138	biolink:NamedThing	Opitz G/BBB syndrome	Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).	mondoexuq1wtf	hypospadias-hypertelorism syndrome|BBB syndrome|Opitz G/BBB syndrome|hypospadias-dysphagia syndrome|hypertelorism hypospadias syndrome|telecanthus with associated abnormalities|Opitz GBBB syndrome|Opitz G syndrome|hypertelorism with esophageal abnormality and hypospadias|hypertelorism-oesophageal abnormality-hypospadias syndrome|Opitz BBBG syndrome|hypospadias-dysphagia, syndrome|Opitz-GBBB syndrome|Opitz-G syndrome, type 2|Opitz syndrome|GBBB syndrome|G syndrome|Opitz-Frias syndrome											NCIT:C125487|SCTID:81771002|GARD:0000193|ICD9:758.89|Orphanet:2745|ICD10:Q87.8|DOID:0050780|OMIMPS:300000|KEGG:H00583|UMLS:CN202554														https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome				owl:Class
MONDO:0019386	biolink:NamedThing	progressive rubella panencephalitis	A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.	mondoexuq1wtf	rubella panencephalitis											ICD10:B06.0+|ICD10:G05.1*|Orphanet:83616|https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis|SCTID:10082001|UMLS:C1305924																		owl:Class
MONDO:0002167	biolink:NamedThing	rectum malignant melanoma	An aggressive malignant melanocytic neoplasm that arises from the rectum.	mondoexuq1wtf	rectum melanoma|melanoma of the rectum|rectal melanoma|malignant melanoma of rectum|melanoma of rectum|rectum melanoma (disease)|rectal malignant melanoma|melanoma (disease) of rectum|malignant melanoma of the rectum											NCIT:C4640|SCTID:276822007|DOID:1992|UMLS:C0349539																		owl:Class
MONDO:0003646	biolink:NamedThing	rectum neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	rectal neuroendocrine neoplasm|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the rectum|NET of the rectum|rectum NET|rectal NET|neuroendocrine tumor of rectum|rectum neuroendocrine tumor|rectum neuroendocrine neoplasm|neuroendocrine neoplasm of rectum											NCIT:C5698|UMLS:C1335686|Orphanet:100081|DOID:5777																		owl:Class
MONDO:0015735	biolink:NamedThing	severe congenital nemaline myopathy	Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.	mondoexuq1wtf	severe congenital (neonatal) NM											ICD10:G71.2|Orphanet:171430|GARD:0012821														https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy				owl:Class
MONDO:0016193	biolink:NamedThing	qualitative or quantitative defects of alpha-actin		mondoexuq1wtf												Orphanet:209059																		owl:Class
MONDO:0007194	biolink:NamedThing	familial bicuspid aortic valve	Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).	mondoexuq1wtf	aortic valve disease type 1|familial BAV|aortic valve disease 1|AOVD1											DOID:0080332|Orphanet:402075|OMIMPS:109730|ICD10:Q23.1																		owl:Class
MONDO:0033545	biolink:NamedThing	mitochondrial DNA depletion syndrome 19		mondoexuq1wtf	MITOCHONDRIAL DNA DEPLETION SYNDROME 19|MTDPS19											OMIM:618972																		owl:Class
MONDO:0010846	biolink:NamedThing	exostoses, multiple, type III		mondoexuq1wtf	exostoses, multiple, type 3|EXT3|exostoses, multiple, type III											MESH:C563975|GARD:0002206|UMLS:C1838420|OMIM:600209																		owl:Class
MONDO:0005508	biolink:NamedThing	hereditary multiple osteochondromas	Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.	mondoexuq1wtf	HMO|hereditary multiple exostoses 3|hereditary multiple exostoses 2|multiple ostechondromas|hereditary multiple exostoses|Bessel-Hagen disease|hereditary multiple exostoses 1|multiple congenital exostosis|multiple exostosis syndromes|hereditary multiple exostosis|osteochondromatosis syndrome|multiple cartilaginous exostoses|multiple exostoses|EXT|osteochondromatosis syndrome (disorder) [ambiguous]|exostoses, multiple											ICD10:Q78.6|GARD:0007035|DOID:206|SCTID:254044004|DC:0000143|Orphanet:321|SCTID:716742001|NCIT:C5183|MESH:D005097|EFO:0005560|UMLS:CN204014														https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas				owl:Class
MONDO:0020215	biolink:NamedThing	syndromic corneal dystrophy	A corneal dystrophy (disease) that is part of a larger syndrome.	mondoexuq1wtf	syndromic corneal dystrophy (disease)|syndrome associated with corneal dystrophy (disease)											UMLS:CN227823|Orphanet:98628																		owl:Class
MONDO:0018102	biolink:NamedThing	corneal dystrophy	The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.	mondoexuq1wtf	corneal dystrophy (disease)|corneal dystrophy		corneal dystrophy (disease)			Editor note: NCIT distinguishes between acquired and genetic						HP:0001131|ICD10:H18.50|SCTID:5587004|ICD10:H18.5|UMLS:C0010036|ICD9:371.50|NCIT:C34513|DOID:2566|ICD9:371.5|MESH:D003317|Orphanet:34533|MedDRA:10011005																		owl:Class
MONDO:0014560	biolink:NamedThing	amelogenesis imperfecta type 1F	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.	mondoexuq1wtf	AMBN amelogenesis imperfecta|amelogenesis imperfecta, type IF|AI1F|amelogenesis imperfecta type IF|amelogenesis imperfecta, type 1F|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta caused by mutation in AMBN											UMLS:C4225394|DOID:0110065|OMIM:616270|ICD10:K00.5																		owl:Class
MONDO:0015047	biolink:NamedThing	amelogenesis imperfecta type 1		mondoexuq1wtf	hypoplastic amelogenesis imperfecta											ICD9:520.5|Orphanet:100031|SCTID:109476006|ICD10:K00.5																		owl:Class
MONDO:0044101	biolink:NamedThing	pregnancy, cornual	An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.	mondoexuq1wtf	uterine horn ectopic pregnancy|rudimentary horn pregnancy|cornual pregnancy|cornual Pregnancies|Pregnancies, cornual|ectopic pregnancy of uterine horn											NCIT:C92761|SCTID:87605005|MESH:D065173																		owl:Class
MONDO:0006552	biolink:NamedThing	folliculitis	Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.	mondoexuq1wtf	dermatitis of hair follicle|hair follicle dermatitis											SCTID:13600006|EFO:1000702|MESH:D005499|DOID:4409|ICD9:704.8|Wikipedia:Folliculitis|NCIT:C94408																		owl:Class
MONDO:0002917	biolink:NamedThing	disease of pilosebaceous unit	A disease that involves the pilosebaceous unit.	mondoexuq1wtf	disorder of pilosebaceous unit|pilosebaceous unit disease or disorder|pilosebaceous unit disease|hair/hair follicle diseases|disease or disorder of pilosebaceous unit|hair and hair follicle diseases|hair disease|disease of pilosebaceous unit|hair disorder											ICD9:704.8|ICD9:704.9|UMLS:C0018500|DOID:421|MESH:D006201|COHD:135033|NCIT:C34656|UMLS:C0554472|SCTID:201128002																		owl:Class
MONDO:0008871	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism type I	A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.	mondoexuq1wtf	osteodysplastic primordial dwarfism type I|MOPD 1|low-birth-weight dwarfism with skeletal dysplasia|Brachymelic primordial dwarfism|osteodysplastic primordial dwarfism, type 1|microcephalic osteodysplastic primordial dwarfism, type I|cephaloskeletal dysplasia|MOPD1|brachymelic primordial dwarfism|Taybi-Linder syndrome|microcephalic osteodysplastic primordial dwarfism, type 1|Cephaloskeletal dysplasia											DOID:0060608|ICD10:Q87.1|SCTID:254102008|OMIM:210710																		owl:Class
MONDO:0000060	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism		mondoexuq1wtf												DC:0000276|UMLS:CN239360																		owl:Class
MONDO:0056816	biolink:NamedThing	vulvar neuroendocrine carcinoma	A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.	mondoexuq1wtf	vulvar high grade Neuroendocrine neoplasm|mammalian vulva neuroendocrine carcinoma|vulvar Neuroendocrine cancer|vulvar Neuroendocrine carcinoma|neuroendocrine carcinoma of mammalian vulva|vulvar high grade Neuroendocrine carcinoma											NCIT:C128243|UMLS:C4288002																		owl:Class
MONDO:0005215	biolink:NamedThing	vulvar carcinoma	A carcinoma that arises from epithelial cells of the mammalian vulva	mondoexuq1wtf	vulva cancer|carcinoma of vulva|vulvar carcinoma|mammalian vulva carcinoma|vulvar cancer|vulva carcinoma|carcinoma of mammalian vulva|cancer of vulva|cancer of the vulva|carcinoma of the vulva											DOID:1294|SCTID:447882007|Orphanet:494418|EFO:0002921|NCIT:C4866|UMLS:C0677055																		owl:Class
MONDO:0006876	biolink:NamedThing	ocular tuberculosis	Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.	mondoexuq1wtf												UMLS:C0041322|MESH:D014392|EFO:1001070|DOID:0070344|SCTID:49107007|ICD9:017.32|ICD9:017.30																		owl:Class
MONDO:0019611	biolink:NamedThing	TSH-secreting pituitary adenoma	A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.	mondoexuq1wtf	thyrotrophic adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|TSH producing pituitary gland adenoma|TSH producing adenoma of pituitary|thyroid stimulating hormone secreting adenoma of pituitary|thyroid stimulating hormone secreting adenoma of the pituitary gland|pituitary thyrotrophic adenoma|TSH secreting pituitary gland adenoma|TSH producing adenoma of the pituitary|thyrotrope adenoma|thyroid stimulating hormone secreting pituitary gland adenoma|TSH secreting adenoma of the pituitary|TSH-producing adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH secreting adenoma of the pituitary gland|TSH producing adenoma of the pituitary gland|TSH secreting adenoma of pituitary gland|thyroid stimulating hormone-secreting pituitary adenoma|thyroid stimulating hormone producing pituitary adenoma|thyroid stimulating hormone secreting adenoma of the pituitary|TSH-oma|thyrotropinoma|thyroid stimulating hormone producing pituitary gland adenoma|TSHoma|thyrotroph adenoma|TSH-producing pituitary gland adenoma|TSH producing pituitary adenoma|thyroid stimulating hormone secreting pituitary adenoma|thyroid stimulating hormone producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of pituitary|TSH secreting adenoma of pituitary|thyrotropin producing pituitary gland adenoma|TSH secreting pituitary adenoma|TSH producing adenoma of pituitary gland|thyroid stimulating hormone-producing adenoma|thyroid stimulating hormone producing adenoma of the pituitary											NCIT:C8011|ICD10:D35.2|UMLS:C0346303|Orphanet:91347																		owl:Class
MONDO:0003837	biolink:NamedThing	TSH producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.	mondoexuq1wtf	TSH-producing pituitary gland tumor|thyroid stimulating hormone secreting neoplasm of the pituitary|TSH-producing pituitary gland neoplasm|TSH secreting tumor of the pituitary|thyroid stimulating hormone producing tumour|TSH secreting neoplasm of the pituitary|TSH producing tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland tumor|TSH producing tumor of the pituitary gland|TSH secreting neoplasm of pituitary|thyroid stimulating hormone secreting tumor of pituitary gland|thyroid stimulating hormone producing tumor of pituitary gland|TSH producing pituitary tumor|thyroid stimulating hormone producing tumor of the pituitary gland|thyroid stimulating hormone secreting pituitary gland tumor|TSH secreting tumor of pituitary gland|thyrotropin producing pituitary gland neoplasm|TSH producing tumor of the pituitary|TSH-oma|thyroid stimulating hormone secreting pituitary tumor|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone secreting pituitary gland neoplasm|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary gland|thyroid stimulating hormone secreting pituitary neoplasm|TSH secreting neoplasm of the pituitary gland|TSH producing neoplasm of pituitary gland|TSH producing neoplasm of the pituitary|thyroid stimulating hormone secreting tumor of the pituitary gland|TSH producing pituitary gland tumor|TSH secreting tumor of pituitary|TSH producing pituitary gland neoplasm|thyroid stimulating hormone producing neoplasm of pituitary|TSH secreting pituitary neoplasm|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting tumor of the pituitary|TSH secreting neoplasm of pituitary gland|thyroid stimulating hormone producing tumor of pituitary|TSH secreting pituitary gland neoplasm|thyroid stimulating hormone secreting neoplasm of pituitary|TSH secreting pituitary gland tumor|TSH secreting tumor of the pituitary gland|thyroid stimulating hormone producing pituitary neoplasm|thyroid stimulating hormone producing neoplasm of the pituitary|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone secreting neoplasm of pituitary gland|TSH producing neoplasm of the pituitary gland|TSH producing neoplasm of pituitary|thyroid stimulating hormone producing pituitary gland neoplasm|thyrotropin-secreting pituitary adenoma|thyroid stimulating hormone producing tumor of the pituitary|TSH producing tumor of pituitary|thyrotroph adenoma|thyroid stimulating hormone secreting tumor of pituitary|TSH secreting pituitary tumor|thyroid stimulating hormone producing neoplasm of the pituitary gland											UMLS:C2362538|NCIT:C7915|SCTID:254959007|DOID:6275																		owl:Class
MONDO:0033123	biolink:NamedThing	exudative vitreoretinopathy 7		mondoexuq1wtf	EVR7|exudative vitreoretinopathy 7											DOID:0080264|OMIM:617572|UMLS:CN321863																		owl:Class
MONDO:0019516	biolink:NamedThing	exudative vitreoretinopathy	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.	mondoexuq1wtf	Criswick-Schepens syndrome|FEVR|familial exudative vitreoretinopathy|exudative vitreoretinopathy, familial											SCTID:232063007|ICD10:H35.0|Orphanet:891|MESH:C580083|ICD9:362.10|DOID:0050535|OMIMPS:133780|GARD:0001613|UMLS:C4072980|ICD10:H35.00																		owl:Class
MONDO:0007874	biolink:NamedThing	trichorhinophalangeal syndrome type II	Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.	mondoexuq1wtf	Langer-Giedion syndrome|Giedion-Langer syndrome|TRPS 2|TRPS2|deletion 8q24.1|Langer Giedion syndrome|monosomy 8q24.1|trichorhinophalangeal syndrome type 2|chromosome 8Q24.1 deletion syndrome|trichorhinophalangeal syndrome, type II|trichorhinophalangeal dysplasia type II|trichorhinophalangeal syndrome, type 2											OMIM:150230|DOID:4998|UMLS:C0023003|GARD:0007801|NCIT:C75118|SCTID:41069008|ICD9:759.89|ICD10:Q87.8|MESH:D015826|Orphanet:502|MedDRA:10050638																		owl:Class
MONDO:0020265	biolink:NamedThing	mitochondrial disease with eye involvement		mondoexuq1wtf												UMLS:CN207076|Orphanet:98695																		owl:Class
MONDO:0022942	biolink:NamedThing	deafness mesenteric diverticula of small bowel neuropathy		mondoexuq1wtf												GARD:0001693														https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy				owl:Class
MONDO:0009295	biolink:NamedThing	glycogen storage disease VII	Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.	mondoexuq1wtf	GSD type 7|phosphofructokinase myopathy|glycogen storage disease due to muscle phosphofructokinase deficiency|GSD 7|GSD type VII|glycogen storage disease 7|glycogen storage disease, type VII|glycogenosis type VII|phosphofructokinase deficiency|glycogenosis type 7|GSD7|PFKM glycogen storage disease|GSDVII|GSD due to muscle phosphofructokinase deficiency|glycogen storage disease caused by mutation in PFKM|Tarui disease|glycogenosis due to muscle phosphofructokinase deficiency|glycogen storage disease VII|glycogen storage disease type 7|glycogen storage disease type VII|Pfkm deficiency|muscle phosphofructokinase deficiency											GARD:0005686|NCIT:C118437|DOID:11721|MESH:D006014|Orphanet:371|UMLS:C0017926|ICD10:E74.0|MedDRA:10053241|OMIM:232800|SCTID:89597008|ICD10:E74.09																		owl:Class
MONDO:0001632	biolink:NamedThing	intracranial arteriosclerosis	Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.	mondoexuq1wtf												MESH:D002537|UMLS:C0007771|DOID:13097																		owl:Class
MONDO:0002277	biolink:NamedThing	arteriosclerosis disorder	A vascular disorder characterized by thickening and hardening of the walls of the arteries.	mondoexuq1wtf	arteriosclerosis|arteriosclerotic cardiovascular disease|vascular sclerosis|cardiovascular arteriosclerosis|arteriosclerotic vascular disease|arterial sclerosis											DOID:2349|EFO:0009086|CSP:0571-2299|NCIT:C34403|MESH:D001161|UMLS:C0003850|ICD9:440|UMLS:C3665365|SCTID:72092001|DOID:2348|NCIT:C34398|ICD10:I25.1|HP:0002634|ICD10:I70																		owl:Class
MONDO:0005041	biolink:NamedThing	glaucoma	Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.	mondoexuq1wtf	glaucoma (disease)|glaucoma		glaucoma (disease)									SCTID:23986001|ICD9:365.9|MESH:D005901|ICD9:365|HP:0000501|DOID:1686|ICD9:365.89|ICD10:H40|EFO:0000516|COHD:437541|UMLS:C0017601|ICD10:H40.9|ICD10:H40.H42|ICD10:H40-H42|NCIT:C26782																		owl:Class
MONDO:0014120	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13		mondoexuq1wtf	MDDGA13|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related											OMIM:615287|UMLS:C3809042|DOID:0111238																		owl:Class
MONDO:0018468	biolink:NamedThing	proton-pump inhibitor-responsive esophageal eosinophilia	Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.	mondoexuq1wtf	PPI-responsive esophageal eosinophilia|PPIRee|PPI-REE											Orphanet:411696|ICD10:K20																		owl:Class
MONDO:0018438	biolink:NamedThing	eosinophilic gastrointestinal disease		mondoexuq1wtf	EGID|primary eosinophilic gastrointestinal disease											UMLS:CN226154|ICD10:K52.8|Orphanet:402029																		owl:Class
MONDO:0005119	biolink:NamedThing	anthrax infection	An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.	mondoexuq1wtf	Bacillus anthracis disease or disorder|Bacillus anthracis infectious disease|anthrax disease|anthrax|Bacillus anthracis caused disease or disorder					Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax						ICD10:A22.9|ICD10:A22|ICD9:022.9|EFO:0000778|DOID:7427|GARD:0008157|UMLS:C0003175|MESH:D000881|SCTID:409498004|ICD9:022|NCIT:C84565|ICD9:022.8																		owl:Class
MONDO:0021641	biolink:NamedThing	Bunyaviridae infectious disease	Virus diseases caused by the bunyaviridae.	mondoexuq1wtf	Bunyaviridae infection|disease due to Bunyaviridae|infections, Bunyaviridae|disease due to Bunyavirus|disease caused by Bunyaviridae|Bunyavirus infection|infections, Bunyavirus|Bunyavirus infections|Bunyaviridae caused disease or disorder|Bunyaviridae disease or disorder|disease caused by Bunyavirus|Bunyaviridae infectious disease											MESH:D002044|EFO:0007188|SCTID:105632002																		owl:Class
MONDO:0008525	biolink:NamedThing	syringomyelia, isolated		mondoexuq1wtf	syringomyelia, noncommunicating isolated|syringomyelia, isolated											MESH:C566084|OMIM:186700																		owl:Class
MONDO:0020508	biolink:NamedThing	primary syringomyelia		mondoexuq1wtf	congenital syringomyelia											SCTID:371076006|UMLS:C1299627|Orphanet:99856|ICD10:Q06.4																		owl:Class
MONDO:0013223	biolink:NamedThing	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.	mondoexuq1wtf	autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|spondylodysplastic dysplasia caused by mutation in PAM16|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|PAM16 spondylodysplastic dysplasia|SMDMDM|chondrodysplasia, Megarbane-Dagher-Melki type											UMLS:C2750075|Orphanet:401979|MESH:C567644|OMIM:613320|ICD10:Q77.8																		owl:Class
MONDO:0013448	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 8		mondoexuq1wtf	Gefs+, type 8|GEFSP8|generalized epilepsy with febrile seizures plus, type 8											DOID:0111299|UMLS:C3151191|OMIM:613828																		owl:Class
MONDO:0018214	biolink:NamedThing	generalized epilepsy with febrile seizures plus	A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).	mondoexuq1wtf	genetic epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures-plus|epilepsy, generalized, with febrile seizures plus|genetic epilepsy with febrile seizures-plus|GEFS+											MESH:C565808|NCIT:C122811|OMIMPS:604233|DOID:0060170|ICD10:G40.3|UMLS:C3502809|Orphanet:36387|SCTID:699688008																		owl:Class
MONDO:0001940	biolink:NamedThing	pleuropneumonia	Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.	mondoexuq1wtf												UMLS:C0032241|DOID:14319|MESH:D011001|SCTID:60485005																		owl:Class
MONDO:0000986	biolink:NamedThing	pleurisy	Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.	mondoexuq1wtf	inflammation of pleura|pleura inflammation|pleuritis											EFO:1001825|NCIT:C26860|COHD:78786|SCTID:196075003|MESH:D010998|UMLS:C0032231|ICD9:511.8|DOID:10247|ICD10:R09.1																		owl:Class
MONDO:0006122	biolink:NamedThing	calcifying nested epithelial stromal tumor of the liver	A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.	mondoexuq1wtf												EFO:1000149|ICDO:8975/1|UMLS:C3273067|NCIT:C96830																		owl:Class
MONDO:0007892	biolink:NamedThing	Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.	mondoexuq1wtf	multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|hyperostotic dwarfism Lenz-Majewski type|Lenz-Majewski hyperostotic dwarfism|LMHD|Lenz-Majewski syndrome|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|Lenz Majewski hyperostotic dwarfism|Lenz-Majewski hyperostotic dysplasia											Orphanet:2658|GARD:0003223|MESH:C537115|ICD10:Q87.1|DOID:0111507|OMIM:151050														https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism				owl:Class
MONDO:0004233	biolink:NamedThing	childhood pleomorphic rhabdomyosarcoma	A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.	mondoexuq1wtf	pleomorphic childhood rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma|childhood anaplastic rhabdomyosarcoma|pediatric pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood											DOID:7463|NCIT:C7959|UMLS:C0279614																		owl:Class
MONDO:0017963	biolink:NamedThing	46,XX disorder of sex development induced by endogenous maternal-derived androgen		mondoexuq1wtf	46,XX DSD induced by endogenous maternal-derived androgen											Orphanet:325093|UMLS:CN227227|ICD10:Q56.2																		owl:Class
MONDO:0019608	biolink:NamedThing	46,XX disorder of sex development induced by maternal-derived androgen		mondoexuq1wtf	46,XX DSD induced by maternal-derived androgen											Orphanet:91144|ICD10:Q56.2|UMLS:CN227662																		owl:Class
MONDO:0000158	biolink:NamedThing	developmental dysplasia of the hip	A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.	mondoexuq1wtf	congenital hip dysplasia|congenital acetabular dysplasia|congenital dysplasia of the hip|dysplasia of acetabulum											DC:0000618|EFO:1000648|SCTID:52781008|UMLS:C1840555|ICD9:755.63|MESH:D006618|OMIMPS:142700																		owl:Class
MONDO:0013957	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG)..	mondoexuq1wtf	CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|immunodeficiency type 32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|IRF8 deficiency, autosomal dominant|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|IMD32A|MSMD due to partial interferon regulatory factor 8 deficiency|MSMD due to partial IRF8 deficiency|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8|immunodeficiency 32A											UMLS:C3808589|OMIM:614893|ICD10:D84.8|Orphanet:319600																		owl:Class
MONDO:0017899	biolink:NamedThing	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).	mondoexuq1wtf	autosomal dominant MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant											UMLS:CN203955|Orphanet:319543|ICD10:D84.8																		owl:Class
MONDO:0003880	biolink:NamedThing	ceruminous carcinoma	An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.	mondoexuq1wtf	ceruminous adenocarcinoma|carcinoma, ceruminous gland, malignant|ceruminous adenocarcinoma (morphologic abnormality)											UMLS:C0334353|DOID:6446|ICDO:8420/3|NCIT:C4176																		owl:Class
MONDO:0003214	biolink:NamedThing	apocrine adenocarcinoma	A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.	mondoexuq1wtf	carcinoma of the apocrine gland|carcinoma of apocrine gland|apocrine gland carcinoma|apocrine carcinoma|apocrine adenocarcinoma (morphologic abnormality)|apocrine gland adenocarcinoma											DOID:4933|GARD:0012138|UMLS:C1706827|NCIT:C4169|UMLS:C0334346|ICDO:8401/3																		owl:Class
MONDO:0017137	biolink:NamedThing	onchocerciasis	Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.	mondoexuq1wtf	onchocercosis|Onchocerca volvulus infection|volvulosis|infection by Onchocerca volvulus|Robles' disease|onchocerciasis|infection caused by Onchocerca volvulus|River blindness											ICD10:B73|DOID:11678|MedDRA:10039202|MESH:D009855|ICD9:125.3|Orphanet:2737|UMLS:C0029001|GARD:0007252|MedDRA:10030314|SCTID:38539003|NCIT:C34861|EFO:0007402														https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis				owl:Class
MONDO:0044714	biolink:NamedThing	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome		mondoexuq1wtf	MMYAT|myopathy, mitochondrial, and ataxia|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome											Orphanet:502423|OMIM:617675|UMLS:CN484737																		owl:Class
MONDO:0008173	biolink:NamedThing	pachyonychia congenita 1	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.	mondoexuq1wtf	Jadassohn-Lewandowsky syndrome|KRT16 pachyonychia congenita|pachyonychia congenita, Jadassohn-Lewandowsky type, formerly|pachyonychia congenita, Jadassohn-Lewandowsky type|PC1|pachyonychia congenita caused by mutation in KRT16|pachyonychia congenita 1|pachyonychia congenita type 1|Jadassohn-Lewandowsky syndrome, formerly											SCTID:39427000|OMIM:167200																		owl:Class
MONDO:0024278	biolink:NamedThing	proctocolitis	Inflammation of the rectum and colon.	mondoexuq1wtf	colorectum inflammation|proctocolitis|inflammation of colorectum											SCTID:418130002|UMLS:C0033247|NCIT:C77952																		owl:Class
MONDO:0014514	biolink:NamedThing	aortic aneurysm, familial thoracic 9	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.	mondoexuq1wtf	MFAP5 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, thoracic, with or without aortic dissection|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic 9|AAT9|aortic aneurysm, familial thoracic type 9											UMLS:C4015368|OMIM:616166																		owl:Class
MONDO:0019625	biolink:NamedThing	familial thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	mondoexuq1wtf	cystic medial necrosis of aorta|Erdheim disease|familial aortic dissection|familial thoracic aortic aneurysm|familial thoracic aortic aneurysm and dissection|familial TAAD|familial aortic aneurysm|FTAAD|Erdheim cystic medial necrosis of aorta|annuloaortic ectasia											Orphanet:91387|UMLS:CN118826|GARD:0002249|ICD10:Q87.4|ICD10:I71.0|GARD:0001654|UMLS:C0392775|SCTID:764965000|Orphanet:229|SCTID:45894003|ICD9:447.9|OMIMPS:607086																		owl:Class
MONDO:0018346	biolink:NamedThing	ferro-cerebro-cutaneous syndrome		mondoexuq1wtf	cerebro-cutaneous syndrome with iron overload											Orphanet:397922|ICD10:G23.0|UMLS:CN226080																		owl:Class
MONDO:0019272	biolink:NamedThing	hereditary palmoplantar keratoderma	An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary palmoplantar keratosis|hereditary keratosis palmoplantaris|hereditary PPK|hereditary palmoplantar hyperkeratosis											ICD9:757.39|Orphanet:79357|ICD10:Q82.8|SCTID:239066003																		owl:Class
MONDO:0006590	biolink:NamedThing	palmoplantar keratosis	A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.	mondoexuq1wtf	palmoplantar keratoderma|keratosis palmaris et plantaris|keratoderma, palmoplantar											ICD10:L85.2|SCTID:706885006|EFO:1000745|ICD9:757.39|NCIT:C34748|DOID:3390|GARD:0008167																		owl:Class
MONDO:0018044	biolink:NamedThing	idiopathic hypersomnia	Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.	mondoexuq1wtf	primary hypersomnia|idiopathic hypersomnolence											GARD:0008737|ICD10:F51.1|NCIT:C116343|SCTID:3731000119107|Orphanet:33208|UMLS:C0751757|MESH:D020177														https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia				owl:Class
MONDO:0005466	biolink:NamedThing	hypersomnia	A sleep disorder characterized by excessive sleepiness.	mondoexuq1wtf	hypersomnia (disease)|hypersomnia		hypersomnia (disease)									HP:0100786|SCTID:77692006|ICD9:780.54|EFO:0005246|NCIT:C78346|UMLS:C0917799																		owl:Class
MONDO:0034147	biolink:NamedThing	neonatal epileptic encephalopathy due to glutaminase deficiency		mondoexuq1wtf												Orphanet:557064																		owl:Class
MONDO:0044719	biolink:NamedThing	erythema multiforme major	A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.	mondoexuq1wtf	erythema multiforme majus|erythema exsudativum multiforme majus											NCIT:C3385|Orphanet:502499																		owl:Class
MONDO:0017396	biolink:NamedThing	toxic dermatosis		mondoexuq1wtf												Orphanet:293815																		owl:Class
MONDO:0013301	biolink:NamedThing	aromatase deficiency	Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.	mondoexuq1wtf	aromatase deficiency|pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency											Orphanet:91|NCIT:C120144|OMIM:613546|UMLS:C1960539|ICD10:E25.8|MESH:C537436|GARD:0000365														https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency				owl:Class
MONDO:0017962	biolink:NamedThing	46,XX disorder of sex development induced by fetoplacental androgens excess		mondoexuq1wtf	46,XX DSD induced by fetoplacental androgens excess											Orphanet:325061|UMLS:CN227226																		owl:Class
MONDO:0010062	biolink:NamedThing	spinocerebellar ataxia-dysmorphism syndrome	Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.	mondoexuq1wtf	spinocerebellar ataxia with dysmorphism											MESH:C564802|UMLS:C1849088|OMIM:271270|Orphanet:1185|GARD:0004958|ICD10:G11.8																		owl:Class
MONDO:0008759	biolink:NamedThing	oxoglutaricaciduria	Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.	mondoexuq1wtf	ALPHA-ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|2-ketoglutarate dehydrogenase deficiency|Oxoglutaric aciduria|Alpha KGD deficiency|Alpha-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency											GARD:0000617|MESH:C536582|ICD10:E88.8|OMIM:203740|UMLS:C2752074|Orphanet:31|SCTID:733630004																		owl:Class
MONDO:0004202	biolink:NamedThing	adrenal medulla carcinoma	A carcinoma that arises from epithelial cells of the adrenal medulla	mondoexuq1wtf	carcinoma of adrenal medulla|adrenal medulla carcinoma											DOID:7379																		owl:Class
MONDO:0002814	biolink:NamedThing	adrenal carcinoma	A carcinoma involving a adrenal gland.	mondoexuq1wtf	adrenal gland carcinoma|carcinoma of adrenal gland|carcinoma of the adrenal gland											DOID:3950																		owl:Class
MONDO:0008056	biolink:NamedThing	myotonic dystrophy type 1	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	mondoexuq1wtf	Steinert syndrome|dystrophia myotonica type 1|DM1|DMPK myotonic dystrophy|Steinert myotonic dystrophy syndrome|myotonic dystrophy type 1|myotonic dystrophy of Steinert|MD1|Steinert myotonic dystrophy|myotonic dystrophy caused by mutation in DMPK|dystrophia myotonica|Steinert's disease|myotonic dystrophy 1|dystrophia myotonica 1|Steinert disease											Orphanet:273|DOID:11722|ICD10:G71.11|ICD10:G71.1|GARD:0008310|NCIT:C84679|OMIM:160900|ICD9:359.21																		owl:Class
MONDO:0007944	biolink:NamedThing	Treacher-Collins syndrome 1	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.	mondoexuq1wtf	mandibulofacial dysostosis|Treacher Collins-Franceschetti syndrome|Treacher Collins syndrome type 1|TCOF1 Treacher-Collins syndrome|Treacher-Collins syndrome caused by mutation in TCOF1|TCS1|Treacher Collins syndrome|TREACHER COLLINS syndrome 1											UMLS:CN119605|OMIM:154500																		owl:Class
MONDO:0025511	biolink:NamedThing	inherited neuroendocrine tumor	An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary neuroendocrine neoplasm|genetic neuroendocrine tumor											UMLS:CN202530|Orphanet:271847																		owl:Class
MONDO:0013895	biolink:NamedThing	Adams-Oliver syndrome 3	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.	mondoexuq1wtf	Adams-Oliver syndrome caused by mutation in RBPJ|Adams-Oliver syndrome type 3|AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome 3											OMIM:614814|UMLS:C3553748																		owl:Class
MONDO:0007034	biolink:NamedThing	Adams-Oliver syndrome	Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.	mondoexuq1wtf	Adams Oliver syndrome|congenital scalp defects with distal limb anomalies|limb, scalp and skull defects|congenital scalp defects with distal limb reduction anomalies|AOS|limb scalp and skull defects											SCTID:34748004|Orphanet:974|MESH:C538225|UMLS:C0265268|ICD9:759.89|GARD:0005739|ICD10:Q87.2|OMIMPS:100300|DOID:0060227														https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome				owl:Class
MONDO:0044619	biolink:NamedThing	propylthiouracil embryofetopathy	Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).	mondoexuq1wtf	PTU embryofetopathy|propylthiouracil embryopathy|PTU embryopathy											Orphanet:485358																		owl:Class
MONDO:0017175	biolink:NamedThing	Machado-Joseph disease type 2	Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.	mondoexuq1wtf	spinocerebellar ataxia, Thomas type|SCA3, Thomas type|azorean disease, type ii											ICD10:G11.8|SCTID:91954009|Orphanet:276241																		owl:Class
MONDO:0007182	biolink:NamedThing	Machado-Joseph disease	Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.	mondoexuq1wtf	Azorean disease|Spinopontine atrophy|spinocerebellar atrophy 3|spinocerebellar ataxia type 3|Machado disease|Azorean neurologic disease|Azorean disease of the nervous system|SCA3|autosomal dominant striatonigral degeneration|Nigrospinodentatal Degeneration|spinocerebellar ataxia 3|Machado-Joseph disease|Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|spinocerebellar atrophy type 3|MJD											MESH:D017827|UMLS:C0024408|NCIT:C84830|SCTID:91952008|ICD10:G11.8|ICD9:336.8|DOID:1440|Orphanet:98757|OMIM:109150|GARD:0006801																		owl:Class
MONDO:0016803	biolink:NamedThing	unspecified inborn mitochondrial disorder		mondoexuq1wtf	unspecified mitochondrial disorder											Orphanet:254837|UMLS:CN227004																		owl:Class
MONDO:0010222	biolink:NamedThing	X-linked Opitz G/BBB syndrome	X-linked form of Opitz G/BBB syndrome.	mondoexuq1wtf	X-linked Opitz BBB/G syndrome|Opitz GBBB syndrome, type I|XLOS|Opitz-G syndrome, type 1|Opitz GBBB syndrome, type 1|Opitz GBBB syndrome, X-linked|hypertelorism-hypospadias syndrome|Opitz syndrome|Opitz G/BBB syndrome, X-linked|Opitz Bbbg syndrome, type 1|X-linked Opitz syndrome|hypertelorism with esophageal Abnormality and hypospadias|telecanthus-hypospadias syndrome|Opitz syndrome, X-linked|GBBB1											OMIM:300000|Orphanet:306597|ICD10:Q87.8																		owl:Class
MONDO:0014748	biolink:NamedThing	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		mondoexuq1wtf	spondyloepimetaphyseal dysplasia, faden-Alkuraya type|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-ALKURAYA type|SEMDFA											UMLS:C4225232|OMIM:616723|Orphanet:457395																		owl:Class
MONDO:0019428	biolink:NamedThing	fried syndrome	Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.	mondoexuq1wtf												SCTID:718848000|UMLS:C4305134|ICD10:Q87.8|Orphanet:85335|UMLS:CN206186																		owl:Class
MONDO:0021456	biolink:NamedThing	benign neoplasm of sternum	A benign neoplasm that involves the sternum.	mondoexuq1wtf	benign neoplasm of the sternum|benign sternal neoplasm|benign tumor of the sternum|benign tumor of sternum|benign sternal tumor|sternum benign neoplasm											SCTID:92410006|UMLS:C0347312|NCIT:C8416																		owl:Class
MONDO:0000636	biolink:NamedThing	musculoskeletal system benign neoplasm	A benign neoplasm that involves the musculoskeletal system.	mondoexuq1wtf	musculoskeletal system benign neoplasm											DOID:0060099																		owl:Class
MONDO:0010830	biolink:NamedThing	neuronal ceroid lipofuscinosis 8	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.	mondoexuq1wtf	ceroid lipofuscinosis, neuronal, 8|neuronal ceroid lipofuscinosis caused by mutation in CLN8|CLN8|CLN8 disease|ceroid lipofuscinosis, neuronal, type 8|CLN8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 8											OMIM:600143|ICD10:E75.4|Orphanet:228354|SCTID:703526007|DOID:0110723|MESH:C537952																		owl:Class
MONDO:0015674	biolink:NamedThing	late infantile neuronal ceroid lipofuscinosis	Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.	mondoexuq1wtf	dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|amaurotic idiocy early juvenile type|late infantile NCL|amaurotic idiocy, early juvenile type|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|Jansky-Bielschowsky disease|LINCL|amaurotic idiocy late infantile type|amaurotic idiocy, late infantile type|Bielschowsky-jansky disease|dollinger-Bielschowsky syndrome|late infantile neuronal ceroid lipofuscinosis|late-infantile neuronal ceroid lipofuscinosis											Orphanet:168491|ICD10:E75.4|SCTID:14637005																		owl:Class
MONDO:0004650	biolink:NamedThing	malignant carotid body paraganglioma	A carotid body paraganglioma that metastasizes to other anatomic sites.	mondoexuq1wtf	malignant carotid body tumor|carotid body cancer|malignant neoplasm of the carotid body|malignant tumor of the carotid body|malignant carotid body paraganglioma|malignant tumor of carotid body|malignant neoplasm of carotid body|malignant carotid body tumor (morphologic abnormality)|cancer of carotid body|chemodectoma, malignant|malignant carotid body neoplasm|carotid body paraganglioma, malignant											NCIT:C3574|ICD9:194.5|ICD10:C75.4|DOID:8731|SCTID:447883002|COHD:40487047|UMLS:C0153656																		owl:Class
MONDO:0021053	biolink:NamedThing	carotid body paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.	mondoexuq1wtf	chemodectoma|carotid body tumor|carotid body paraganglioma|carotid body chemodectoma|chemodectoma, undetermined|paraganglioma of carotid body|tumor of carotid body|tumor of the carotid body|paraganglioma of the carotid body											NCIT:C2932|UMLS:C0007279|GARD:0010598|ICDO:8692/1																		owl:Class
MONDO:0000637	biolink:NamedThing	musculoskeletal system cancer	A malignant neoplasm involving the musculoskeletal system	mondoexuq1wtf	malignant neoplasm of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|skeletal system cancer|cancer of musculoskeletal system											DOID:0060100																		owl:Class
MONDO:0043465	biolink:NamedThing	achlorhydria	Absence of hydrochloric acid in the gastric juice.	mondoexuq1wtf	gastric anacidity|achlorhydria|hypochlorhydria|achylia gastrica|absent gastric acidity											MESH:D000126|NCIT:C2850|SCTID:47481007																		owl:Class
MONDO:0004298	biolink:NamedThing	stomach disease	A disease involving the stomach.	mondoexuq1wtf	disease of stomach|gastric disease|stomach disorder|disorder of stomach|gastropathy|stomach disease or disorder|stomach disease|disease or disorder of stomach											NCIT:C26886|ICD9:537.89|MESH:D013272|DOID:76|ICD9:537.9|SCTID:29384001|UMLS:C0038354																		owl:Class
MONDO:0025089	biolink:NamedThing	infectious bovine rhinotracheitis	A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.	mondoexuq1wtf	bovine Rhinotracheitis, infectious|Rhinotracheitis, infectious bovine|infectious bovine Rhinotracheitides|Rhinotracheitides, infectious bovine|bovine Rhinotracheitides, infectious											UMLS:C0021334|MESH:D007241																		owl:Class
MONDO:0017398	biolink:NamedThing	3MC syndrome	3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.	mondoexuq1wtf	craniofacial-ulnar-renal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome|oculopalatoskeletal syndrome											Orphanet:293843|DOID:0060225|OMIMPS:257920|ICD10:Q87.8|SCTID:720756005|GARD:0001118|UMLS:CN230015														https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome				owl:Class
MONDO:0018060	biolink:NamedThing	congenital fibrinogen deficiency	Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).	mondoexuq1wtf	fibrinogen deficiency, congenital											ICD10:D68.2|Orphanet:335|GARD:0002320														https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital				owl:Class
MONDO:0007884	biolink:NamedThing	leg ulcers, familial, of juvenile onset		mondoexuq1wtf	leg ulcers, familial, of juvenile onset											UMLS:C1835489|OMIM:150590|MESH:C563632																		owl:Class
MONDO:0012055	biolink:NamedThing	Larsen-like osseous dysplasia-short stature syndrome	Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	mondoexuq1wtf	Larsen-like syndrome|Lrsl											OMIM:608545|MESH:C563914|UMLS:C1837884|Orphanet:2370|ICD10:Q74.8																		owl:Class
MONDO:0019700	biolink:NamedThing	primary bone dysplasia with multiple joint dislocations		mondoexuq1wtf	primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations											Orphanet:93441																		owl:Class
MONDO:0003589	biolink:NamedThing	liposarcoma of the ovary	A malignant adipose tissue neoplasm of the ovary.	mondoexuq1wtf	liposarcoma of ovary|ovarian liposarcoma|ovary liposarcoma											DOID:5697|UMLS:C1335165|NCIT:C6419																		owl:Class
MONDO:0009035	biolink:NamedThing	craniometaphyseal dysplasia, autosomal recessive	Autosomal recessive form of craniometaphyseal dysplasia.	mondoexuq1wtf	autosomal recessive craniometaphyseal dysplasia|craniometaphyseal dysplasia, autosomal recessive|CMDR|craniometaphyseal dysplasia, autosomal recessive type											OMIM:218400|GARD:0001582|MESH:C536570																		owl:Class
MONDO:0008157	biolink:NamedThing	Buschke-Ollendorff syndrome	Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.	mondoexuq1wtf	dermatofibrosis lenticularis disseminata, isolated|disseminated dermatofibrosis with osteopoikilosis|dermatofibrosis, disseminated, with osteopoikilosis|Buschke Ollendorff syndrome|dermatofibrosis lenticularis disseminata with osteopoikilosis|Bos|dermatofibrosis, disseminated with osteopoikilosis|osteopathia condensans disseminata|osteopoikilosis, isolated|osteopoikilosis with melorheostosis|Buschke-Ollendorff syndrome|Dermatoosteopoikilosis											ICD10:Q78.8|DOID:0111536|GARD:0001044|MESH:C537415|OMIM:166700|Orphanet:1306																		owl:Class
MONDO:0016097	biolink:NamedThing	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.	mondoexuq1wtf												SCTID:765197008|UMLS:CN200864|ICD10:G71.0|Orphanet:206546																		owl:Class
MONDO:0016147	biolink:NamedThing	qualitative or quantitative defects of dystrophin		mondoexuq1wtf	dystrophinopathy											Orphanet:207085|UMLS:CN043595																		owl:Class
MONDO:0006635	biolink:NamedThing	Acinetobacter infectious disease	Infections with bacteria of the genus acinetobacter.	mondoexuq1wtf	infection, Acinetobacter|Mimae infections|infections, Mimae|infections, Acinetobacter|Mimae infection|Acinetobacter caused disease or disorder|infection, Mimae|Acinetobacter disease or disorder|Acinetobacter infection											DOID:3091|UMLS:C0001139|EFO:1000792|MESH:D000151																		owl:Class
MONDO:0006878	biolink:NamedThing	Moraxellaceae infectious disease	Infections with bacteria of the family moraxellaceae.	mondoexuq1wtf	infections, Psychobacter|infection, Psychobacter|infection, Moraxella|Moraxella infections|Moraxellaceae disease or disorder|infection, Moraxellaceae|Moraxellaceae infection|Moraxella infection|infections, Moraxella|Moraxellaceae caused disease or disorder|Psychobacter infection|Psychobacter infections|infections, Moraxellaceae											MESH:D045828|EFO:1001072																		owl:Class
MONDO:0010525	biolink:NamedThing	neural tube defects, X-linked		mondoexuq1wtf	anencephaly and spina bifida X-linked|spina bifida, X-linked|X-linked anencephaly/spina bifida|neural tube defects, X-linked											UMLS:C1845026|OMIM:301410|MESH:C536359|GARD:0000669														https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked				owl:Class
MONDO:0019351	biolink:NamedThing	isolated spina bifida	A spina bifida (disease) that is not part of a larger syndrome.	mondoexuq1wtf	isolated spina bifida (disease)|nonsyndromic spina bifida (disease)|cleft spine|open spine											ICD10:Q05.2|Orphanet:823|ICD10:Q05.8|GARD:0007673|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.9|ICD10:Q05.0|ICD10:Q05.6|ICD10:Q05.3|MedDRA:10041524|ICD10:Q05.1|ICD10:Q05.7																		owl:Class
MONDO:0010133	biolink:NamedThing	thyroid dyshormonogenesis 2A	Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.	mondoexuq1wtf	familial thyroid dyshormonogenesis caused by mutation in TPO|thyroid peroxidase deficiency|thyroid dyshormonogenesis type 2A|TPO familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 2A|iodide peroxidase deficiency|thyroid hormonogenesis, genetic defect in, 2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A|TDH2A											SCTID:124204003|ICD9:277.6|MESH:C563206|NCIT:C121750|UMLS:C1291299|OMIM:274500																		owl:Class
MONDO:0010132	biolink:NamedThing	familial thyroid dyshormonogenesis	Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	mondoexuq1wtf	thyroid dyshormonogenesis|dyshormonogenesis											SCTID:718183003|MESH:C564766|NCIT:C121751|ICD10:E03.0|Orphanet:95716|UMLS:C1848805|ICD10:E03.1																		owl:Class
MONDO:0010524	biolink:NamedThing	X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.	mondoexuq1wtf	anemia, Sex-linked hypochromic Siderobla|anemia, sideroblastic, and spinocerebellar ataxia|XLSA-A|X-linked sideroblastic anemia and ataxia|X-linked sideroblastic anemia with spinocerebellar ataxia|sideroblastic anemia with spinocerebellar ataxia|ASAT|X-linked sideroblastic Anemia and ataxia|X-linked sideroblastic anemia with ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|Xlsa-A|anemia sideroblastic and spinocerebellar ataxia|Pagon Bird Detter syndrome|Pagon-Bird-Detter syndrome											GARD:0000668|DOID:0050554|UMLS:C4304338|SCTID:719816006|ICD10:D64.0|OMIM:301310|DOID:0060064|Orphanet:2802|UMLS:C1845028|MESH:C536358																		owl:Class
MONDO:0017192	biolink:NamedThing	sporadic secreting paraganglioma		mondoexuq1wtf												UMLS:CN202632|ICD10:C75.5|Orphanet:276627|ICD10:D44.7																		owl:Class
MONDO:0003881	biolink:NamedThing	vulvar apocrine adenocarcinoma	An apocrine adenocarcinoma that arises from the sweat glands in the vulva.	mondoexuq1wtf	vulvar apocrine adenocarcinoma|apocrine adenocarcinoma of mammalian vulva|mammalian vulva apocrine adenocarcinoma											NCIT:C40308|DOID:6448|UMLS:C2202741																		owl:Class
MONDO:0043166	biolink:NamedThing	pancreatic lipomatosis duodenal stenosis		mondoexuq1wtf	pancreatic lipomatosis and duodenal atresia											UMLS:C2931040|GARD:0004208|MESH:C535839																		owl:Class
MONDO:0006734	biolink:NamedThing	benign duodenal neoplasm	A non-metastasizing neoplasm arising from the wall of the duodenum.	mondoexuq1wtf	neoplasm of the duodenum|benign neoplasm of duodenum|benign tumor of duodenum|duodenum benign neoplasm|benign tumor of the duodenum|duodenal benign neoplasm|benign duodenal tumor|benign neoplasm of the duodenum|benign duodenal neoplasm										MONDO:0021504	SCTID:92080005|MedDRA:10004251|DOID:1737|NCIT:C4775|EFO:1000907																		owl:Class
MONDO:0005885	biolink:NamedThing	optic neuritis	Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.	mondoexuq1wtf												ICD9:377.30|ICD10:H46.9|SCTID:66760008|ICD9:377.39|NCIT:C84950|ICD10:H46|DOID:1210|ICD9:377.3|EFO:0007405|COHD:374954|GARD:0007320|MESH:D009902														https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis				owl:Class
MONDO:0008364	biolink:NamedThing	Raynaud disease	An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.	mondoexuq1wtf	Raynaud's syndrome (disorder) [ambiguous]|secondary Raynaud's disease|Raynaud's syndrome|cold fingers, hereditary|secondary Raynaud phenomenon|secondary Raynaud disease|Raynaud disease|secondary Raynaud's phenomenon|Raynaud syndrome|Raynaud's disease											OMIM:179600|EFO:1001145|COHD:314962|UMLS:C0034734|ICD10:I73.0|MESH:D011928|NCIT:C116359|ICD9:443.0|SCTID:195295006|DOID:10300																		owl:Class
MONDO:0011090	biolink:NamedThing	isolated hereditary congenital facial paralysis	Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	mondoexuq1wtf	facial paresis, hereditary congenital|hereditary congenital facial paresis|facial palsy, congenital, unilateral or bilateral|Moebius syndrome 2 (formerly)|HCFP|facial paresis hereditary congenital|MBS2 (formerly)|Mobius syndrome 2 (formerly)											OMIMPS:601471|GARD:0008583|SCTID:733091002|ICD10:Q87.0|MESH:C563309|Orphanet:306527|UMLS:C4518577														https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis				owl:Class
MONDO:0014503	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 17	Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.	mondoexuq1wtf	spinocerebellar ataxia, autosomal recessive 17|SCAR17|autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|spinocerebellar ataxia autosomal recessive type 17|CWF19L1 autosomal recessive congenital cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 17|autosomal recessive spinocerebellar ataxia type 17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency											DOID:0080064|UMLS:C4015301|Orphanet:453521|OMIM:616127|ICD10:G11.1																		owl:Class
MONDO:0005747	biolink:NamedThing	enterovirus infectious disease	An disease caused by infection with Enterovirus.	mondoexuq1wtf	Enterovirus caused disease or disorder|Enterovirus disease or disorder|enteroviral infection|infection, Enterovirus|disease due to enterovirus|disease caused by enterovirus|Enterovirus infection|Enterovirus infectious disease|enterovirus infection|infections, Enterovirus|enterovirus infectious disease											EFO:0007255|SCTID:53648006|UMLS:C0014378|MESH:D004769|ICD9:079.89																		owl:Class
MONDO:0013290	biolink:NamedThing	agammaglobulinemia 5, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.	mondoexuq1wtf	LRRC8A autosomal agammaglobulinemia|AGM5|autosomal agammaglobulinemia caused by mutation in LRRC8A|agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|agammaglobulinemia 5, autosomal dominant											UMLS:C3150753|DOID:0080588|OMIM:613506																		owl:Class
MONDO:0011096	biolink:NamedThing	autosomal agammaglobulinemia	Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.	mondoexuq1wtf	AGM|agammaglobulinemia, non-Bruton type|agammaglobulinemia, autosomal recessive, due to IGHM defect											Orphanet:33110|MESH:C538056|UMLS:C1832241|ICD10:D80.0|GARD:0009640																		owl:Class
MONDO:0009671	biolink:NamedThing	intellectual disability-myopathy-short stature-endocrine defect syndrome	Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism|Chudley-Rozdilsky syndrome|Chudley syndrome|Chudley Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism											UMLS:C1854663|GARD:0001358|OMIM:253320|ICD10:Q87.8|Orphanet:3068|MESH:C535458|SCTID:764959000																		owl:Class
MONDO:0020383	biolink:NamedThing	fundus pulverulentus	Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.	mondoexuq1wtf												UMLS:CN207257|Orphanet:99004|ICD10:H35.5																		owl:Class
MONDO:0018973	biolink:NamedThing	patterned dystrophy of the retinal pigment epithelium		mondoexuq1wtf												GARD:0009821|MESH:C536309|UMLS:C1868569|Orphanet:63454|ICD10:H35.5																		owl:Class
MONDO:0021047	biolink:NamedThing	breast phyllodes tumor	A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.	mondoexuq1wtf	phyllodes breast neoplasm|phyllodes tumor of the breast|breast phyllodes neoplasm|cystosarcoma phylloides of the breast|cystosarcoma phylloides - breast|phyllodes neoplasm of the breast|breast phyllodes tumor|phyllodes neoplasm of breast|phyllodes tumor of breast|cystosarcoma phyllodes of the breast|phyllodes breast tumor|breast cystosarcoma phyllodes|cystosarcoma phyllodes of breast											SCTID:712989008|GARD:0009514|ONCOTREE:PT|NCIT:C7575																		owl:Class
MONDO:0005078	biolink:NamedThing	phyllodes tumor	A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.	mondoexuq1wtf	phyllodes neoplasm|cystosarcoma phyllodes|phyllodes tumor|CSP					Note that this class covers both breast and prostate phyllodes tumors						MESH:D003557|NCIT:C2977|EFO:0000653																		owl:Class
MONDO:0001869	biolink:NamedThing	paraurethral gland cancer	A malignant neoplasm involving the paraurethral gland.	mondoexuq1wtf	malignant tumor of the paraurethral gland|malignant tumor of paraurethral gland|malignant neoplasm of paraurethral gland|cancer of paraurethral gland|paraurethral gland cancer|malignant paraurethral gland neoplasm											UMLS:C0153621|DOID:14059|ICD10:C68.1|SCTID:363460002|ICD9:189.4																		owl:Class
MONDO:0004595	biolink:NamedThing	acute pulmonary heart disease		mondoexuq1wtf												DOID:8514|ICD9:415|UMLS:C0155671|SCTID:67189007																		owl:Class
MONDO:0004596	biolink:NamedThing	cor pulmonale	Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.	mondoexuq1wtf	disease, pulmonary heart|cardiopulmonary disease|pulmonary heart disease|diseases, pulmonary heart|heart disease, pulmonary|cor pulmonale|pulmonary heart diseases|heart diseases, pulmonary											ICD10:I27.9|COHD:4307356|DOID:8515|UMLS:C0034072|MESH:D011660|SCTID:274096000|ICD10:I27.81																		owl:Class
MONDO:0045070	biolink:NamedThing	digestive system melanoma	A melanoma that arises from any part of the digestive system.	mondoexuq1wtf	gastrointestinal melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease)|digestive system melanoma											GARD:0010409|UMLS:C1333798|NCIT:C7091																		owl:Class
MONDO:0018586	biolink:NamedThing	zinc-responsive necrolytic acral erythema		mondoexuq1wtf	necrolytic acral erythema|NAE											ICD10:L53.8|SCTID:762543009|UMLS:CN237615|Orphanet:439196																		owl:Class
CL:0002575	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005772	biolink:NamedThing	geotrichosis	Infection due to the fungus Geotrichum.	mondoexuq1wtf												ICD10:B48.3|SCTID:13969006|DOID:2832|UMLS:C0017455|EFO:0007284|MESH:D005847|ICD9:117.9																		owl:Class
MONDO:0002312	biolink:NamedThing	opportunistic mycosis	A mycosis that arises from infection in an immunologically compromised host.	mondoexuq1wtf	opportunistic systemic mycoses|opportunistic mycoses											UMLS:C0029119|ICD9:117.9|SCTID:78999002|DOID:2473|COHD:432248|ICD9:118																		owl:Class
MONDO:0007976	biolink:NamedThing	mesomelic dwarfism of hypoplastic tibia and radius type		mondoexuq1wtf	mesomelic dwarfism of hypoplastic tibia and radius type											OMIM:156230|MESH:C563589|GARD:0007313|UMLS:C1835010														https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type				owl:Class
MONDO:0016810	biolink:NamedThing	autosomal recessive progressive external ophthalmoplegia	Autosomal recessive form of progressive external ophthalmoplegia.	mondoexuq1wtf	progressive external ophthalmoplegia, autosomal recessive|arPEO											ICD10:H49.4|Orphanet:254886|MESH:C564926																		owl:Class
MONDO:0005181	biolink:NamedThing	progressive external ophthalmoplegia	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	mondoexuq1wtf	chronic progressive external ophthalmoplegia [ambiguous]|progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia											EFO:0002509|COHD:379027|ICD10:H49.4|SCTID:46252003|DOID:12558|MESH:D017246|HP:0000590|ICD9:378.72|GARD:0004503|Orphanet:520820																		owl:Class
MONDO:0009972	biolink:NamedThing	respiratory underresponsiveness to hypoxia and hypercapnia		mondoexuq1wtf	respiratory underresponsiveness to hypoxia and hypercapnia											OMIM:267480|MESH:C564848																		owl:Class
MONDO:0018623	biolink:NamedThing	postpartum psychosis	Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.	mondoexuq1wtf	puerperal psychosis										MONDO:0024269	ICD10:F53|ICD10:F53.1|Orphanet:443173|ICD9:648.44|SCTID:18260003																		owl:Class
MONDO:0044013	biolink:NamedThing	puerperal disorder	Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.	mondoexuq1wtf	disorder, puerperal|postpartum disorder|puerperal disorder|disorder of puerperium|disorders, puerperal											UMLS:C0034040|SCTID:362973001|MESH:D011644																		owl:Class
MONDO:0006823	biolink:NamedThing	Klinefelter syndrome	A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.	mondoexuq1wtf	Klinefelter syndrome|XXY syndrome (Klinefelter syndrome)|47,XXY syndrome|XXY syndrome|hypogonadotropic hypogonadism|XXY trisomy|Klinefelter's syndrome|Klinefelter's syndrome, XXY											ICD10:Q98.0|NCIT:C34752|SCTID:405769009|DOID:1921|MESH:D007713|ICD10:Q98.4|EFO:1001006|COHD:4228490|MedDRA:10023463|ICD9:758.7|UMLS:C0022735																		owl:Class
MONDO:0012738	biolink:NamedThing	long QT syndrome 11	Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.	mondoexuq1wtf	AKAP9 long QT syndrome|long QT syndrome type 11|long QT syndrome caused by mutation in AKAP9|long QT syndrome 11|LQT11											DOID:0110652|ICD10:I45.8|MESH:C567513|GARD:0010437|OMIM:611820|UMLS:C2678483														https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11				owl:Class
MONDO:0054636	biolink:NamedThing	Skraban-Deardorff syndrome		mondoexuq1wtf	intellectual disability with seizures, abnormal Gait, and distinctive Facial features|Skraban-Deardorff syndrome|SKDEAS											OMIM:617616|Orphanet:513456|UMLS:C4539927																		owl:Class
MONDO:0003390	biolink:NamedThing	glycogen-rich clear cell breast carcinoma	An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.	mondoexuq1wtf	glycogen-rich carcinoma|Glycogen-rich, clear cell breast carcinoma|glycogen-rich carcinoma (morphologic abnormality)											ICDO:8315/3|UMLS:C0334319|DOID:5310|NCIT:C40368																		owl:Class
MONDO:0004953	biolink:NamedThing	invasive ductal breast carcinoma	The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.	mondoexuq1wtf	ductal adenocarcinoma|infiltrating ductal carcinoma of breast|infiltrating ductal carcinoma|invasive ductal carcinoma of the breast|invasive ductal carcinoma of breast|invasive ductal carcinoma, NST|infiltrating ductal adenocarcinoma|infiltrating ductal breast carcinoma|invasive ductal carcinoma|invasive ductal adenocarcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma, No specific type|breast invasive ductal carcinoma|invasive ductal breast carcinoma											EFO:0000186|NCIT:C4194|ICDO:8521/3|SCTID:408643008|ONCOTREE:IDC|ICDO:8500/3|DOID:3008|ICD9:174.8																		owl:Class
MONDO:0010266	biolink:NamedThing	intellectual disability, X-linked 58	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.	mondoexuq1wtf	intellectual disability, X-linked 58|mental retardation, X-linked 58|intellectual disability, X-linked type 58|TSPAN7 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 58|MRX58|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7											MESH:C564566|OMIM:300210|UMLS:C1846174																		owl:Class
MONDO:0002719	biolink:NamedThing	conus medullaris neoplasm	A neoplasm (disease) that involves the conus medullaris.	mondoexuq1wtf	conus medullaris neoplasm|conus medullaris tumor|neoplasm of the conus medullaris|neoplasm of conus medullaris|conus medullaris neoplasm (disease)|tumor of conus medullaris|tumor of the conus medullaris											UMLS:C1333153|DOID:3641|NCIT:C5443																		owl:Class
MONDO:0010327	biolink:NamedThing	HSD10 mitochondrial disease	HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	mondoexuq1wtf	HSD10MD|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|17-beta-hydroxysteroid dehydrogenase X deficiency|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|MRXS10|mental retardation, X-linked, syndromic type 10|HSD10 deficiency, atypical type|MHBD deficiency|chorioathetosis with mental retardation and abnormal behavior|2M3HBA|mental retardation, X-linked, syndromic 10|hydroxyacyl-CoA dehydrogenase II deficiency|HSD10 mitochondrial disease|HSD17B10 deficiency|syndromic X-linked intellectual disability type 10|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|mental retardation with chorioathetosis and abnormal behavior|17-beta-hydroxysteroid dehydrogenase 10 deficiency|HSD10 deficiency|mental retardation, X-linked syndromic 10|3H2MBD deficiency|2-methyl-3-hydroxybutyric aciduria|17 beta-hydroxysteroid dehydrogenase type 10 deficiency											OMIM:300438|Orphanet:391417|ICD10:E72.8|MESH:C564560|SCTID:791000124107|UMLS:CN204973|MESH:C536080|UMLS:C1846168|OMIM:300220|DOID:0060810|ICD10:G25.5|GARD:0010716																		owl:Class
MONDO:0019415	biolink:NamedThing	fetal and neonatal alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.	mondoexuq1wtf	NAIT											GARD:0002295|Orphanet:853|ICD10:P61.0|SCTID:240305000														https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia				owl:Class
MONDO:0002243	biolink:NamedThing	hemorrhagic disease	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).	mondoexuq1wtf	bleeding tendency|bleeding diathesis|hemorrhagic disease|bleeding predisposition|hemorrhagic diathesis|bleeding disorder											NCIT:C115221|DOID:2213|ICD9:287.9|MESH:D006474|ICD10:D69.9																		owl:Class
MONDO:0002471	biolink:NamedThing	bursitis	Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	mondoexuq1wtf	adhesive capsulitis, shoulder|inflammation of synovial bursa|shoulder adhesive capsulitis|Capsulitides, shoulder adhesive|shoulder, frozen|synovial bursa inflammation|adhesive capsulitis|Bursitides|capsulitis|Capsulitides|capsulitis, shoulder adhesive|frozen shoulder|Capsulitides, adhesive|adhesive capsulitis of the shoulder|frozen shoulders|shoulder adhesive Capsulitides|adhesive Capsulitides|adhesive Capsulitides, shoulder|shoulders, frozen|capsulitis, adhesive											DOID:2965|SCTID:84017003|ICD9:727.3|ICD10:M71.9|COHD:134453|NCIT:C94407|MESH:D002062|UMLS:C0006444																		owl:Class
MONDO:0024249	biolink:NamedThing	pityriasis lichenoides	A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).	mondoexuq1wtf	Pityriasis Lichenoides, chronic|Pityriasis Lichenoides|Pityriasis Lichenoides chronica|Pityriasis Lichenoides et Varioliformis Acuta|pityriasis lichenoides|Pityriasis Lichenoides, acute|chronic Pityriasis Lichenoides|parapsoriasis guttata|acute Pityriasis Lichenoides|parapsoriasis en gouttes											MESH:D017514|NCIT:C85013|GARD:0010265|SCTID:200983001																		owl:Class
MONDO:0013779	biolink:NamedThing	Wiskott-Aldrich syndrome 2	Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.	mondoexuq1wtf	WIPF1 Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wiskott-Aldrich syndrome 2|Wipf1 deficiency|Wiskott-Aldrich syndrome type 2|WAS2											OMIM:277970|OMIM:614493|UMLS:C3281001																		owl:Class
MONDO:0016646	biolink:NamedThing	autosomal dominant optic atrophy and peripheral neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	mondoexuq1wtf												UMLS:CN201872|ICD10:H47.2|Orphanet:250932																		owl:Class
MONDO:0020250	biolink:NamedThing	autosomal dominant optic atrophy	An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.	mondoexuq1wtf	ADOA|optic atrophy, autosomal dominant|DOA|dominant optic atrophy											SCTID:2065009|ICD10:H47.2|GARD:0011972|Orphanet:98672|MESH:D029241|UMLS:C0338508|NCIT:C84577																		owl:Class
MONDO:0016293	biolink:NamedThing	congenital stationary night blindness		mondoexuq1wtf	congenital essential nyctalopia|night blindness, congenital stationary											SCTID:232061009|ICD10:H53.6|Orphanet:215|ICD10:H53.63|OMIMPS:310500|DOID:0050534|ICD9:368.61|MESH:C536122																		owl:Class
MONDO:0004587	biolink:NamedThing	hereditary night blindness	An instance of night blindness that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	congenital night blindness|Oguchi's disease|hereditary night blindness											ICD10:H53.63|ICD9:368.61|SCTID:193687000|DOID:8498																		owl:Class
MONDO:0018902	biolink:NamedThing	hepatocellular adenoma	A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.	mondoexuq1wtf	adenoma of liver cells|adenoma, hepatocellular, benign|LIAD|adenoma of the liver cells|liver cell adenoma|hepatocellular adenoma|HCA											ICD10:D13.4|Orphanet:54272|MedDRA:10019827|NCIT:C3758|UMLS:C0206669|MESH:D018248|EFO:0000762|ICDO:8170/0|ONCOTREE:LIAD|DOID:0050868																		owl:Class
MONDO:0004972	biolink:NamedThing	adenoma	A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.	mondoexuq1wtf	acinar cell adenoma (morphologic abnormality)|adenoma, benign|acinic cell adenoma|adenoma|acinar cell adenoma|adenomas					Editor note: check status re benign						MESH:D000236|UMLS:C0001430|SCTID:443416007|ICDO:8140/0|NCIT:C2855|EFO:0000232|DOID:657																		owl:Class
MONDO:0014214	biolink:NamedThing	short-rib thoracic dysplasia 8 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.	mondoexuq1wtf	SRTD8|short-rib thoracic dysplasia 8 with or without polydactyly|short rib-polydactyly syndrome, type 6|SRPS6|short rib-polydactyly syndrome type VI											OMIM:615503|ICD10:Q77.2|UMLS:C3809691|DOID:0110094																		owl:Class
MONDO:0002300	biolink:NamedThing	dermis tumor	A benign, intermediate, or malignant neoplasm that arises from the dermis.	mondoexuq1wtf	dermis neoplasm (disease)|tumor of dermis|dermal tumor|tumor of the dermis|dermis neoplasm|neoplasm of the dermis|neoplasm of dermis|dermis tumor|dermal neoplasm											NCIT:C4475|UMLS:C0346041|DOID:2438																		owl:Class
MONDO:0022754	biolink:NamedThing	chromosome 17p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.	mondoexuq1wtf	chromosome 17p deletion syndrome|partial monosomy 17p|interstitial deletion 17p|monosomy 17p|deletion 17p syndrome|deletion 17p|chromosome 17p deletion|loss of chromosome 17p|del(17p)|17p- syndrome|17p monosomy|17p deletion					Editor note: check this, MESH says 17						NCIT:C36499|MESH:C538045|GARD:0006075|UMLS:CN036220																		owl:Class
MONDO:0008434	biolink:NamedThing	Smith-Magenis syndrome	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.	mondoexuq1wtf	17p11.2 microdeletion syndrome|Smith-Magenis syndrome chromosome region|chromosome 17P11.2 deletion syndrome|Smith-Magenis chromosome region|Smith-Magenis syndrome|chromosome 17p11.2 deletion syndrome|SMS|SMITH-Magenis syndrome											MESH:D058496|GARD:0008197|ICD9:758.33|Orphanet:819|NCIT:C75469|OMIM:182290|ICD10:Q93.5|UMLS:C0795864|SCTID:401315004|DOID:0060768																		owl:Class
MONDO:0001473	biolink:NamedThing	medulloadrenal hyperfunction		mondoexuq1wtf												SCTID:111565003|ICD9:255.6|ICD10:E27.5|DOID:12257|UMLS:C0154206|COHD:440972																		owl:Class
MONDO:0005495	biolink:NamedThing	adrenal gland disease	A disease involving the adrenal gland.	mondoexuq1wtf	adrenal gland disease|adrenal gland disorder|disorder of adrenal gland|adrenal gland disorders|adrenal gland diseases|disease of adrenal gland|disease or disorder of adrenal gland|adrenal gland disease or disorder											ICD9:255.9|MESH:D000307|ICD9:255.8|ICD10:E27.9|NCIT:C26690|SCTID:30171000|DOID:9553|ICD9:255|EFO:0005539|COHD:193165																		owl:Class
MONDO:0007691	biolink:NamedThing	Guillain-Barre syndrome, familial	A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.	mondoexuq1wtf	chronic inflammatory demyelinating polyradiculoneuropathy|GBS|chronic inflammatory demyelinating polyneuropathy|polyneuropathy, inflammatory demyelinating, chronic|Guillain-Barre syndrome, familial|CIDP|polyneuropathy, inflammatory demyelinating, acute					Editor note: check this						ICD10:G61.8|SCTID:716723000|GARD:0006102|OMIM:139393|MedDRA:10057645														https://github.com/monarch-initiative/mondo/issues/3467				owl:Class
MONDO:0100239	biolink:NamedThing	inherited hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is inherited.	mondoexuq1wtf	hereditary hypertrophic pyloric stenosis							http://orcid.org/0000-0001-5208-3432				OMIMPS:179010																		owl:Class
MONDO:0025488	biolink:NamedThing	leukemia, feline	A neoplastic disease of cats frequently associated with feline leukemia virus infection.	mondoexuq1wtf	leukemias, Feline|Feline leukemia|Feline leukemias											MESH:D016582|UMLS:C0085164																		owl:Class
MONDO:0005059	biolink:NamedThing	leukemia	A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.	mondoexuq1wtf	leukemia, disease|leukemia|leukemias|leukemia (disease)|blood (leukemia)|leukemias, general|leukemia, malignant		leukemia (disease)									ICD9:208|UMLS:C0023418|ICD10:C95.90|ICD10:C95.9|MESH:D007938|SCTID:93143009|ICD9:208.8|ICD10:C95|ICD9:207|ICD9:208.9|ICD9:208.90|ICD9:207.8|HP:0001909|EFO:0000565|DOID:1240|ICD9:208.80|ICDO:9800/3|ICD9:207.80|NCIT:C3161																		owl:Class
MONDO:0032725	biolink:NamedThing	developmental and epileptic encephalopathy, 74		mondoexuq1wtf	EIEE74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74|epileptic encephalopathy, early infantile, 74|DEE74											OMIM:618396																		owl:Class
MONDO:0010336	biolink:NamedThing	orofaciodigital syndrome VIII	Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.	mondoexuq1wtf	oral facial digital syndrome 8|orofaciodigital syndrome, Edwards type|OFD syndrome 8|oral-facial-digital syndrome type 8|oral-Facial-digital syndrome with hypoplastic Epiglottis|Ofds 8|orofaciodigital syndrome VIII|orofaciodigital syndrome type VIII|oral-facial-digital syndrome, Edwards type|oral-Facial-digital syndrome, type 8|orofaciodigital syndrome 8|oral facial digital syndrome type 8|orofaciodigital syndrome type 8|OFD8											Orphanet:2755|MESH:C557820|OMIM:300484|SCTID:722106001|DOID:0060378|ICD10:Q87.0|GARD:0004060																		owl:Class
MONDO:0015375	biolink:NamedThing	orofaciodigital syndrome	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	mondoexuq1wtf	oral-facial-digital syndromes|OFD|orofaciodigital syndromes|oral-facial-digital syndrome|orofaciodigital syndrome|oral facial digital syndromes											GARD:0010692|ICD10:Q87.0|DOID:4501|SCTID:52868006|OMIMPS:311200|Orphanet:140997|ICD9:759.89|MESH:D009958																		owl:Class
MONDO:0012370	biolink:NamedThing	autosomal recessive nonsyndromic deafness 51	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.	mondoexuq1wtf	DFNB51|deafness, autosomal recessive 51|autosomal recessive nonsyndromic deafness type 51|autosomal recessive deafness 51											MESH:C538202|OMIM:609941|GARD:0009918|DOID:0110508|ICD10:H90.3																		owl:Class
MONDO:0018188	biolink:NamedThing	genetic intestinal polyposis		mondoexuq1wtf	familial intestinal polyposis											UMLS:C2713443|ICD10:D12.6|Orphanet:363314																		owl:Class
MONDO:0022998	biolink:NamedThing	distal arthrogryposis Moore weaver type		mondoexuq1wtf	Moore Weaver syndrome											MESH:C536814|UMLS:C2931342																		owl:Class
MONDO:0008779	biolink:NamedThing	arthrogryposis	A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.	mondoexuq1wtf	Arthrogryposes, congenital multiple|congenital multiple Arthrogryposes|congenital multiple arthrogryposis											UMLS:C0003886|MESH:D001176|NCIT:C84572|EFO:0003857																		owl:Class
MONDO:0014221	biolink:NamedThing	triosephosphate isomerase deficiency	Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.	mondoexuq1wtf	TPID|TPI deficiency|triosephosphate isomerase deficiency|triose phosphate-isomerase deficiency											ICD9:282.3|UMLS:C1860808|OMIM:615512|SCTID:234405009|ICD10:D55.2|MESH:C566029|Orphanet:868|NCIT:C131652|GARD:0005287|DOID:0050884														https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency				owl:Class
MONDO:0016401	biolink:NamedThing	energy metabolism disorder with epilepsy		mondoexuq1wtf												Orphanet:225696|UMLS:CN226915																		owl:Class
MONDO:0009020	biolink:NamedThing	macular corneal dystrophy	Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.	mondoexuq1wtf	Groenouw type II corneal dystrophy|corneal dystrophy Groenouw type II|macular corneal dystrophy type 1|Groenouw type 2 corneal dystrophy|macular dystrophy, corneal type 1|MCD|corneal dystrophy, macular type|macular corneal dystrophy, type 1|Mcdc1|Mcdc1, formerly|macular dystrophy, corneal, 1|macular corneal dystrophy, type 2|macular dystrophy, corneal|Fehr corneal dystrophy											UMLS:C0024439|ICD10:H18.5|OMIM:217800|ICD10:H18.55|ICD9:371.55|DOID:2565|Orphanet:98969|MedDRA:10025406|NCIT:C34793|MESH:C537834|SCTID:60258001|GARD:0006953																		owl:Class
MONDO:0020213	biolink:NamedThing	stromal corneal dystrophy	The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.	mondoexuq1wtf	corneal dystrophy (disease) of substantia propria of cornea|substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy|corneal stromal dystrophy											ICD9:371.56|DOID:0060442|UMLS:C0038457|SCTID:231931001|Orphanet:98626|ICD10:H18.5																		owl:Class
MONDO:0003028	biolink:NamedThing	thyroid sarcoma	A malignant soft tissue neoplasm primarily involving the thyroid gland.	mondoexuq1wtf	thyroid sarcoma|thyroid gland sarcoma|sarcoma of thyroid gland|sarcoma of the thyroid|sarcoma of the thyroid gland|sarcoma of thyroid											NCIT:C6041|UMLS:C1336756|DOID:4515|EFO:1001971																		owl:Class
MONDO:0008018	biolink:NamedThing	Muir-Torre syndrome	Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.	mondoexuq1wtf	MRTES|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|multiple keratoacanthoma, Muir-Torre type|Muir-Torre syndrome|MUIR-Torre syndrome|cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas											GARD:0006821|ICD10:L72.8|DOID:0050465|MedDRA:10063042|SCTID:403824007|NCIT:C84905|UMLS:C1321489|MESH:D055653|OMIM:158320|Orphanet:587																		owl:Class
MONDO:0018630	biolink:NamedThing	hereditary nonpolyposis colon cancer	Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.	mondoexuq1wtf	Hereditary nonpolyposis colorectal cancer (HNPCC)|HNPCC|hereditary nonpolyposis colorectal cancer|colorectal cancer, hereditary nonpolyposis|familial nonpolyposis colorectal cancer|familial nonpolyposis colon cancer|hereditary nonpolyposis colon cancer											UMLS:CN237674|NCIT:C120083|SCTID:315058005|OMIMPS:120435|Orphanet:443909														https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc|https://github.com/monarch-initiative/mondo/issues/1673				owl:Class
MONDO:0015230	biolink:NamedThing	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	anophthalmia megalocornea cardiopathy skeletal anomalies|Cassia Stocco dos Santos syndrome											SCTID:720495005|UMLS:CN197570|Orphanet:1101|GARD:0000717|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies				owl:Class
MONDO:0020441	biolink:NamedThing	right superior vena cava connecting to left-sided atrium	Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.	mondoexuq1wtf	right superior caval vein connecting to left-sided atrium|right SVC connecting to left-sided atrium											Orphanet:99110|ICD10:Q26.8																		owl:Class
MONDO:0019829	biolink:NamedThing	congenital anomaly of superior vena cava		mondoexuq1wtf	congenital anomaly of the SVC|congenital anomaly of superior caval vein											Orphanet:95498|ICD10:Q26.9|SCTID:70195006|ICD9:747.49																		owl:Class
MONDO:0008862	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase 2 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.	mondoexuq1wtf	MCC 2 deficiency|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|3 alpha methylcrotonylglycinuria 2|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|MCC2D|3-methylcrotonylglycinuria 2|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|3-Methylcrotonyl-CoA carboxylase 2 deficiency|methylcrotonylglycinuria type 2|3-METHYLCROTONYL-CoA carboxylase 2 deficiency|methylcrotonylglycinuria, type 2|MCC2 deficiency											GARD:0009151|DOID:0080580|MESH:C535309|OMIM:210210																		owl:Class
MONDO:0018950	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	mondoexuq1wtf	MCCD|BMCC deficiency|methylcrotonylglycinuria|Methylcrotonyl-CoA carboxylase deficiency|3-MCC deficiency|3-methylcrotonylglycinuria|MCC deficiency|3MCC deficiency											ICD10:E71.1|UMLS:CN239165|UMLS:C0268600|GARD:0010954|OMIMPS:210200|DOID:0050710|NCIT:C98674|SCTID:13144005|Orphanet:6																		owl:Class
MONDO:0006231	biolink:NamedThing	gastrointestinal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.	mondoexuq1wtf	gastrointestinal hamartoma											UMLS:C3272802|EFO:1000280|NCIT:C96475																		owl:Class
MONDO:0012105	biolink:NamedThing	granulomatosis with polyangiitis	A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.	mondoexuq1wtf	Wegener's granulomatosis|GPA|Wg|Wegener's syndrome|ANCA-associated vasculitis|Wegener granulomatosis|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|necrotizing respiratory granulomatosis|Midline granulomatosis|granulomatosis - Wegener's|granulomatosis with polyangiitis											EFO:0005297|COHD:313223|MedDRA:10047888|DOID:12132|SCTID:195353004|OMIM:608710|ICD10:M31.30|ICD9:446.4|UMLS:C3495801|NCIT:C123111|Orphanet:900|UMLS:C4050407|MESH:D014890|ICD10:M31.3|GARD:0007880																		owl:Class
MONDO:0011728	biolink:NamedThing	blepharospasm	Involuntary twitching of the eyelid.	mondoexuq1wtf	blepharospasm, benign essential|blepharospasm, benign essential, susceptibility to|BEB|benign essential blepharospasm											OMIM:606798|DOID:529|SCTID:59026006|UMLS:C0005747|COHD:435802|GARD:0005909|MESH:D001764|ICD9:333.81|ICD10:G24.5																		owl:Class
MONDO:0010352	biolink:NamedThing	intellectual disability, X-linked 82		mondoexuq1wtf	mental retardation, X-linked 82|MRX82|intellectual disability, X-linked 82											OMIM:300518|UMLS:C1845286|MESH:C564496																		owl:Class
MONDO:0018262	biolink:NamedThing	fetal anticonvulsant syndrome		mondoexuq1wtf	FACS|fetal AEDS|fetal antiepileptic drug syndrome											UMLS:C1739111|Orphanet:370068|ICD10:Q86.8																		owl:Class
MONDO:0017266	biolink:NamedThing	keratinopathic ichthyosis		mondoexuq1wtf	KPI											Orphanet:281103|SCTID:724837004|UMLS:C4511307																		owl:Class
MONDO:0017262	biolink:NamedThing	inherited non-syndromic ichthyosis	A inherited ichthyosis that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic inherited ichthyosis|isolated inherited ichthyosis											Orphanet:281082																		owl:Class
MONDO:0014232	biolink:NamedThing	craniosynostosis 5, susceptibility to	Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.	mondoexuq1wtf	craniosynostosis 5, susceptibility to|CRS5|ALX4 craniosynostosis|susceptibility to craniosynostosis 5|craniosynostosis caused by mutation in ALX4											OMIM:615529																		owl:Class
MONDO:0001419	biolink:NamedThing	trachea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.	mondoexuq1wtf	squamous cell carcinoma of trachea|epidermoid carcinoma of trachea|epidermoid carcinoma of the trachea|trachea epidermoid carcinoma|squamous cell carcinoma of the trachea|tracheal epidermoid carcinoma|tracheal squamous cell carcinoma|trachea squamous cell carcinoma											SCTID:254620000|UMLS:C0345946|DOID:12003|NCIT:C4448|EFO:1000600																		owl:Class
MONDO:0018649	biolink:NamedThing	cerebral visual impairment	A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.	mondoexuq1wtf	cortical visual impairment|visual cortex disorder											UMLS:CN237707|NCIT:C35275|ICD10:H47.6|SCTID:413924001|Orphanet:447788																		owl:Class
MONDO:0021084	biolink:NamedThing	vision disorder	Any impairment to the vision.	mondoexuq1wtf	disorder of visual system|visual Field disorder|visual disorder|disorder of vision|vision disorder|visual system disorder											SCTID:95677002|NCIT:C35126|UMLS:C0042790|MESH:D014786																		owl:Class
MONDO:0010779	biolink:NamedThing	mitochondrial non-syndromic sensorineural deafness		mondoexuq1wtf	isolated mitochondrial neurosensory deafness|mitochondrial non-syndromic neurosensory deafness|deafness, isolated, due to mitochondrial transmission|isolated mitochondrial sensorineural deafness|deafness, nonsyndromic sensorineural, mitochondrial											OMIM:500008|Orphanet:90641|DOID:0111751|ICD10:H90.3|GARD:0001709																		owl:Class
MONDO:0016297	biolink:NamedThing	prelingual non-syndromic genetic deafness	Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	mondoexuq1wtf	isolated prelingual genetic deafness											SCTID:764098007|Orphanet:216445																		owl:Class
MONDO:0019033	biolink:NamedThing	primary cutis verticis gyrata	Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).	mondoexuq1wtf	cutis verticis gyrata											ICD9:757.39|GARD:0001643|Orphanet:671|SCTID:51603000|ICD10:Q82.8|UMLS:C0263417														https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata				owl:Class
MONDO:0013349	biolink:NamedThing	ALG11-CDG	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	mondoexuq1wtf	congenital disorder of glycosylation type Ip|CDG1P|ALG11-CDG (CDG-Ip)|CDG syndrome type Ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation, type Ip|carbohydrate deficient glycoprotein syndrome type Ip|CDG-Ip											ICD10:E77.8|OMIM:613661|SCTID:733085004|UMLS:C3150913|DOID:0080567|GARD:0012396|Orphanet:280071																		owl:Class
MONDO:0020128	biolink:NamedThing	motor neuron disease	A disease involving the motor neuron.	mondoexuq1wtf	motor neuron disease|disease or disorder of motor neuron|disease of motor neuron|disorder of motor neuron|motor neuron disease or disorder|anterior horn cell disease											EFO:0003782|MESH:D016472|SCTID:37340000|Orphanet:98503|ICD9:335.8|MedDRA:10028003|COHD:374631|ICD9:335.9|ICD9:335.2|DOID:231|ICD10:G12.2|ICD10:G12.20																		owl:Class
MONDO:0019430	biolink:NamedThing	X-linked intellectual disability-ataxia-apraxia syndrome	X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.	mondoexuq1wtf												ICD10:G31.8|UMLS:CN227633|Orphanet:85338																		owl:Class
MONDO:0022795	biolink:NamedThing	deficiency of coenzyme q cytochrome c reductase		mondoexuq1wtf	coenzyme Q cytochrome c reductase deficiency of											GARD:0001419														https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of				owl:Class
MONDO:0012787	biolink:NamedThing	hereditary spastic paraplegia 39	This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.	mondoexuq1wtf	autosomal recessive spastic paraplegia 39|NTEMND|hereditary spastic paraplegia caused by mutation in PNPLA6|hereditary spastic paraplegia type 39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation|PNPLA6 hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 39|NTE-related motor neuron disorder|spastic paraplegia 39, autosomal recessive|spastic paraplegia due to NTE mutation|SPG39|spastic paraplegia 39											UMLS:C4304963|Orphanet:139480|GARD:0004924|OMIM:612020|SCTID:719103009|UMLS:C2677586|MESH:C567433|DOID:0110790|ICD10:G11.4																		owl:Class
MONDO:0006165	biolink:NamedThing	colorectal squamous cell carcinoma	A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	mondoexuq1wtf	colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer|colorectum squamous cell carcinoma|colorectal squamous cell cancer											NCIT:C43588|UMLS:C1707442|EFO:1000198																		owl:Class
MONDO:0011348	biolink:NamedThing	non-syndromic polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	mondoexuq1wtf	supernumerary digits|isolated polydactyly (disease)|nonsyndromic polydactyly (disease)|isolated polydactyly|Extra digits|nonsyndromic polydactyly|polydactylia					Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy						GARD:0004410|ICD10:Q69.0|ICD10:Q69.1|Orphanet:2913|ICD10:Q69.9|MedDRA:10036063|ICD10:Q69.2																		owl:Class
MONDO:0021003	biolink:NamedThing	polydactyly	A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.	mondoexuq1wtf	hyperdactyly|supernumerary digit|polydactyly|polydactyly (disease)|postaxial polydactyly|polydactylism		polydactyly (disease)									ICD10:Q69.0|NCIT:C87110|ICD9:755.0|DOID:1148|ICD10:Q69|COHD:74740|ICD9:755.00|ICD10:Q69.9|MedDRA:10036063|SCTID:367506006|ICD10:Q69.2|OMIM:603596|ICD10:Q69.1|HP:0010442																		owl:Class
MONDO:0002765	biolink:NamedThing	plantar verrucous skin carcinoma	A verrucous carcinoma that involves the plantar part of pes.	mondoexuq1wtf	plantar verrucous skin carcinoma|plantar part of pes verrucous carcinoma|plantar verrucous carcinoma of skin|plantar verrucous carcinoma of the skin											DOID:3751|NCIT:C6811|UMLS:C1335424																		owl:Class
MONDO:0044989	biolink:NamedThing	foot disease	A disease or disorder that involves the pes.	mondoexuq1wtf	disease or disorder of pes|pes disease|pes disease or disorder|foot disease|disorder of foot|disorder of pes|disease of pes											UMLS:C0016510|SCTID:118932009|MESH:D005534																		owl:Class
MONDO:0013368	biolink:NamedThing	mammary-digital-nail syndrome	Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	mondoexuq1wtf	MDNS|onycho-digito-mammary syndrome|MDN syndrome|mammary-digital-nail syndrome											UMLS:C3150946|Orphanet:238744|OMIM:613689|ICD10:Q87.2|SCTID:718679004																		owl:Class
MONDO:0014932	biolink:NamedThing	orofaciodigital syndrome XV		mondoexuq1wtf	orofaciodigital syndrome XV|OFD15|orofaciodigital syndrome 15|orofaciodigital syndrome type XV|Ofds 15|oral-Facial-digital syndrome, type 15											OMIM:617127|UMLS:C4310701																		owl:Class
MONDO:0011744	biolink:NamedThing	primary intraosseous venous malformation	Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.	mondoexuq1wtf	hemangioma, intraosseous|intraosseous hemangioma|vascular malformation, primary intraosseous|vascular malformation osseous|osseous venous malformation											OMIM:606893|MESH:C564648|SCTID:764100007|UMLS:C1847197|Orphanet:140436|ICD10:D18.0																		owl:Class
MONDO:0024499	biolink:NamedThing	vascular bone neoplasm	A benign, intermediate, or malignant vascular neoplasm that arises from the bone.	mondoexuq1wtf	vascular neoplasm of the bone|bone vascular tumor|vascular neoplasm of bone|vascular tumor of bone|bone vascular neoplasm|osseous vascular neoplasm|vascular bone neoplasm|vascular tumor of the bone|osseous vascular tumor											NCIT:C6478|UMLS:C1336946																		owl:Class
MONDO:0007359	biolink:NamedThing	commissural lip pits		mondoexuq1wtf	commissural lip pits											OMIM:120500|SCTID:109550008																		owl:Class
MONDO:0014773	biolink:NamedThing	cardiac anomalies - developmental delay - facial dysmorphism syndrome		mondoexuq1wtf	mental retardation and distinctive FACIAL features with or without CARDIAC defects|MRFACD|intellectual disability and distinctive Facial features with or without Cardiac defects|MED13L haploinsufficiency syndrome|cardiac anomalies - developmental delay - facial dysmorphism syndrome|MED13L syndrome|intellectual disability and distinctive facial features with or without cardiac defects|mental retardation and distinctive Facial features with or without Cardiac defects|intellectual disability and distinctive FACIAL features with or without CARDIAC defects											GARD:0012999|UMLS:C4225208|HGNC:22962|OMIM:616789|Orphanet:369891|ICD10:Q87.8																		owl:Class
MONDO:0001794	biolink:NamedThing	Pthirus pubis infestation	Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.	mondoexuq1wtf	Pthirus pubis infection|infestation by Phthirus pubis|Pediculus pubis|crabs|phthiriasis|Phthirus pubis [pubic louse]|pediculosis pubis|phthiriasis pubis|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|Phthirus pubis|infections, Pthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs											ICD9:132.2|DOID:13760|ICD10:B85.3|SCTID:71011005|UMLS:C0030759|NCIT:C35777																		owl:Class
MONDO:0012176	biolink:NamedThing	Emanuel syndrome	Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.	mondoexuq1wtf	supernumerary der(22),t(11;22) syndrome|Emanuel syndrome|supernumerary Der(22)T(11|Der(22)t(11;22) syndrome|supernumerary der(22) syndrome											SCTID:702417004|ICD10:Q92.6|UMLS:C1836929|GARD:0009835|Orphanet:96170|OMIM:609029|ICD9:758.5|MESH:C535733														https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome				owl:Class
MONDO:0015880	biolink:NamedThing	syndromic diaphragmatic or thoracic malformation		mondoexuq1wtf												Orphanet:180779|UMLS:CN226770																		owl:Class
MONDO:0003616	biolink:NamedThing	salpingitis isthmica nodosa	Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.	mondoexuq1wtf												DOID:5730|UMLS:C0269043|NCIT:C40119|SCTID:36742000																		owl:Class
MONDO:0003617	biolink:NamedThing	chronic salpingitis	Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.	mondoexuq1wtf	salpingitis, chronic											UMLS:C0269041|ICD10:N70.11|NCIT:C40118|SCTID:55551005|DOID:5731																		owl:Class
MONDO:0003184	biolink:NamedThing	trachea carcinoma	A carcinoma that arises from epithelial cells of the trachea.	mondoexuq1wtf	carcinoma of the trachea|cancer of the trachea|Ca trachea|trachea carcinoma|trachea cancer|cancer of trachea|tracheal carcinoma|carcinoma of trachea											DOID:4876|UMLS:C1744708|EFO:1000599|NCIT:C9347																		owl:Class
MONDO:0006704	biolink:NamedThing	CNS demyelinating autoimmune disease	Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.	mondoexuq1wtf												MESH:D020278|EFO:1000870																		owl:Class
MONDO:0004240	biolink:NamedThing	posterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the bladder.	mondoexuq1wtf	posterior urethral cancer|posterior urethra malignant tumor|malignant tumor of the posterior urethra|malignant tumor of posterior urethra|malignant neoplasm of the posterior urethra|malignant neoplasm of posterior urethra|posterior urethra malignant neoplasm|posterior urethral malignant tumor|posterior urethral malignant neoplasm											NCIT:C7640|DOID:7488|UMLS:C0279931																		owl:Class
MONDO:0004192	biolink:NamedThing	urethra cancer	A malignant neoplasm involving the urethra	mondoexuq1wtf	malignant urethra neoplasm|cancer of urethra|malignant urethral tumor|urethral Ca|malignant tumor of the urethra|malignant tumor of urethra|urethral cancer|malignant tumour of urethra|malignant neoplasm of urethra|malignant urethra tumor|urethra cancer|malignant urethral neoplasm|malignant neoplasm of the urethra											GARD:0009390|SCTID:363459007|ONCOTREE:UCA|ICD9:189.3|ICD10:C68.0|NCIT:C7507|DOID:734																		owl:Class
MONDO:0011280	biolink:NamedThing	schizophrenia 6	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.	mondoexuq1wtf	schizophrenia 6|SCZD6|schizophrenia susceptibility locus, chromosome 8P-related											OMIM:603013|DOID:0070082|UMLS:C1864275																		owl:Class
MONDO:0005090	biolink:NamedThing	schizophrenia	A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.	mondoexuq1wtf	SCZD|schizophrenia with or without an affective disorder|schizophrenia-1|schizophrenia|schizoaffective disorder|schizophrenia (disease)		schizophrenia (disease)									ICD9:295.90|SCTID:58214004|ICD9:295.85|ICD9:295.9|DOID:5419|ICD9:295.8|ICD9:295.80|HP:0100753|NIFSTD:birnlex_2104|NCIT:C3362|ICD9:295|EFO:0000692|OMIM:181500																		owl:Class
MONDO:0100211	biolink:NamedThing	growth hormone insensitivity with immune dysregulation 1, autosomal recessive		mondoexuq1wtf	Laron-like syndrome|short stature due to STAT5b deficiency|growth hormone insensitivity due to postreceptor defect|growth hormone insensitivity with immunodeficiency|Laron syndrome with immunodeficiency|Laron syndrome due to postreceptor defect							http://orcid.org/0000-0001-5208-3432				UMLS:C1855548|UMLS:C4510411|MESH:C537871|Orphanet:220465|ICD10:E34.3|ICD10:D82.8|OMIM:245590|SCTID:724179008																		owl:Class
MONDO:0024458	biolink:NamedThing	disease of visual system	A disease that involves the visual system.	mondoexuq1wtf	disorder of visual system|visual system disease|visual system disease or disorder|disease or disorder of visual system|disease of visual system|visual system disorder											SCTID:128127008																		owl:Class
MONDO:0018944	biolink:NamedThing	gestational trophoblastic neoplasm	A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.	mondoexuq1wtf	GTT|gestational trophoblastic disease|gestational trophoblastic tumor|gestational trophoblastic neoplasia|hydatidiform mole|GTN|molar pregnancy											ICD10:O01|ICD10:O01.0|ICD9:630|SCTID:609519004|Orphanet:59305|MedDRA:10061988|UMLS:C1135868|DOID:3590|ICD10:O01.9|NCIT:C4699|GARD:0006498																		owl:Class
MONDO:0017951	biolink:NamedThing	trichorhinophalangeal syndrome		mondoexuq1wtf	TRPS											ICD9:759.89|SCTID:18077009|Orphanet:324764|UMLS:C0265255|OMIMPS:190350|ICD10:Q87.8																		owl:Class
MONDO:0014106	biolink:NamedThing	hypogonadotropic hypogonadism 20 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.	mondoexuq1wtf	HH20|FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 20 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGF17											UMLS:C3808983|OMIM:615270|DOID:0090082|ICD10:E23.0																		owl:Class
MONDO:0016941	biolink:NamedThing	partial duplication of the short arm of chromosome 4		mondoexuq1wtf	partial duplication of the short arm of chromosome type 4|partial duplication of chromosome 4p|partial trisomy of the short arm of chromosome 4|partial trisomy of chromosome 4p											Orphanet:262716																		owl:Class
MONDO:0016924	biolink:NamedThing	partial duplication of chromosome 4		mondoexuq1wtf	partial trisomy of chromosome 4|partial duplication of chromosome type 4											Orphanet:262206|SCTID:726342002																		owl:Class
MONDO:0021488	biolink:NamedThing	benign neoplasm of lacrimal gland	A benign neoplasm that involves the lacrimal gland.	mondoexuq1wtf	benign tumor of the lacrimal gland|benign lacrimal gland tumor|benign lacrimal gland neoplasm|benign tumor of lacrimal gland|benign neoplasm of the lacrimal gland|lacrimal gland benign neoplasm											SCTID:92169007|UMLS:C0154024|ICD9:224.2|NCIT:C3621																		owl:Class
MONDO:0017867	biolink:NamedThing	distal 17p13.1 microdeletion syndrome	Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	mondoexuq1wtf	distal del(17)(p13.1)											Orphanet:319171|ICD10:Q93.5|UMLS:CN203914																		owl:Class
MONDO:0007067	biolink:NamedThing	pyruvate kinase hyperactivity	Autosomal dominant phenotype characterized by increase of red blood cell ATP.	mondoexuq1wtf	pyruvate kinase hyperactivity|adenosine triphosphate, elevated, of erythrocytes											EFO:0005840|OMIM:102900|MESH:C566310|UMLS:C1863224																		owl:Class
MONDO:0016789	biolink:NamedThing	pyruvate metabolism disorder	An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process.	mondoexuq1wtf	rare inborn error of pyruvate metabolic process|inborn pyruvate metabolic process disorder|inborn error of pyruvate metabolic process											Orphanet:254746|UMLS:CN226999|ICD10:E74.4																		owl:Class
MONDO:0011781	biolink:NamedThing	spinocerebellar ataxia type 17	Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.	mondoexuq1wtf	Huntington disease-like 4|SCA 17|SCA17|spinocerebellar ataxia type 17|HDL4|spinocerebellar ataxia 17											GARD:0010469|DOID:0050967|Orphanet:98759|MESH:C564616|ICD10:G11.8|UMLS:C1846707|SCTID:719249005|OMIM:607136																		owl:Class
MONDO:0017662	biolink:NamedThing	miscellaneous movement disorder due to genetic neurodegenerative disease		mondoexuq1wtf												UMLS:CN203549|Orphanet:307058																		owl:Class
MONDO:0015489	biolink:NamedThing	predominantly medium-vessel vasculitis		mondoexuq1wtf												Orphanet:156143																		owl:Class
MONDO:0002209	biolink:NamedThing	heel spur	A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.	mondoexuq1wtf	calcaneus exostosis|calcaneal spur											SCTID:55260003|ICD10:M77.30|ICD9:726.73|COHD:73560|MESH:D036982|UMLS:C0158322|DOID:210|ICD10:M77.3																		owl:Class
MONDO:0002181	biolink:NamedThing	exostosis	Non-neoplastic overgrowth of bone.	mondoexuq1wtf	bone osteophyte|bony outgrowth|osteophyte|swimmer's exostosis|exostosis|orbital exostosis|bone spur					Editor note: compare with osteophyte						ICD10:M27.8|UMLS:C1956089|DOID:203|COHD:72715|SCTID:235231000119100|SCTID:416189003|ICD9:726.91|NCIT:C3029|UMLS:C1442903																		owl:Class
MONDO:0033947	biolink:NamedThing	hereditary angioedema with normal C1Inh		mondoexuq1wtf												Orphanet:528647																		owl:Class
MONDO:0019623	biolink:NamedThing	hereditary angioedema	Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	mondoexuq1wtf	hereditary angioedema|HAE|HANE|hereditary non histamine-induced angioedema|deficiency of C1 esterase inhibitor|familial angioneurotic edema|hereditary angioneurotic edema|hereditary bradykinine-induced angioedema|angioedema, hereditary											UMLS:CN239191|GARD:0005979|DOID:14735|Orphanet:91378|MedDRA:10019860|NCIT:C84758|MESH:D054179|SCTID:82966003|UMLS:C0019243|OMIMPS:106100|ICD10:D84.1																		owl:Class
MONDO:0012209	biolink:NamedThing	branchiogenic deafness syndrome	Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.	mondoexuq1wtf	Mégarbané-Loiselet syndrome|MC)garbanC)-Loiselet syndrome|BRANCHIOGENIC-deafness syndrome											MESH:C563780|ICD10:Q87.0|OMIM:609166|SCTID:717944002|Orphanet:50815|UMLS:C1836673																		owl:Class
MONDO:0010418	biolink:NamedThing	hereditary spastic paraplegia 34	X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.	mondoexuq1wtf	SPG34|X-linked spastic paraplegia 34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked|hereditary spastic paraplegia type 34											Orphanet:171607|MESH:C567465|OMIM:300750|ICD10:G11.4|UMLS:C2677897|DOID:0110785|SCTID:763370008																		owl:Class
MONDO:0017912	biolink:NamedThing	X-linked pure spastic paraplegia		mondoexuq1wtf												ICD10:G11.4|Orphanet:320332																		owl:Class
MONDO:0034106	biolink:NamedThing	developmental and epileptic encephalopathy, 73		mondoexuq1wtf	rnf13-related severe early-onset epileptic encephalopathy|DEE73|epileptic encephalopathy, early infantile, 73											OMIM:618379|Orphanet:544503																		owl:Class
MONDO:0100358	biolink:NamedThing	ectodermal dysplasia WNT10A related		mondoexuq1wtf	ectodermal dysplasia WNT10A related							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3293				owl:Class
MONDO:0015393	biolink:NamedThing	nasal ganglioglioma	Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.	mondoexuq1wtf												Orphanet:141115																		owl:Class
MONDO:0005081	biolink:NamedThing	preeclampsia	Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.	mondoexuq1wtf	pregnancy toxemia|toxaemia of pregnancy|preeclampsia/eclampsia|pregnancy associated hypertension|gestational hypertension|pre-eclampsia|preeclampsia|proteinuric hypertension of pregnancy|hypertension induced by pregnancy|pre-eclamptic toxaemia											ICD10:O14.0|ICD9:642.43|NCIT:C85021|ICD9:642.44|ICD10:O14.1|Orphanet:275555|MedDRA:10036485|ICD10:O14.2|ICD10:O14|DOID:10591|OMIMPS:189800|ICD9:642.42|ICD9:642.40|EFO:0000668|MESH:D011225|ICD10:O14.9|SCTID:398254007|ICD9:642.41|ICD10:O14.90																		owl:Class
MONDO:0045048	biolink:NamedThing	toxemia of pregnancy	A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.	mondoexuq1wtf	toxemia of pregnancy											NCIT:C34943																		owl:Class
MONDO:0008488	biolink:NamedThing	holoprosencephaly-radial heart renal anomalies syndrome	Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.	mondoexuq1wtf	STEINFELD syndrome|Steinfeld syndrome|holoprosencephaly radial heart renal anomalies											SCTID:716233007|Orphanet:3186|UMLS:C1866649|MESH:C566655|OMIM:184705|ICD10:Q87.8|GARD:0002727														https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome				owl:Class
MONDO:0019891	biolink:NamedThing	monosomy 22		mondoexuq1wtf	Del(22)|deletion 22|monosomy type 22											UMLS:C0795878|ICD10:Q93.0|NCIT:C36461|Orphanet:96123																		owl:Class
MONDO:0020053	biolink:NamedThing	total autosomal monosomy		mondoexuq1wtf												ICD10:Q93.1|Orphanet:98141|ICD10:Q93.0																		owl:Class
MONDO:0014529	biolink:NamedThing	cerebellar-facial-dental syndrome		mondoexuq1wtf	CEREBELLOFACIODENTAL syndrome|CFDS|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome											UMLS:C4015495|UMLS:CN221667|ICD10:Q87.0|Orphanet:444072|EFO:0009030|OMIM:616202																		owl:Class
MONDO:0015548	biolink:NamedThing	Huntington disease-like syndrome		mondoexuq1wtf	Huntington disease phenocopy syndrome											Orphanet:158266|ICD9:333.99|SCTID:702376003|MESH:C580174|UMLS:C3711380																		owl:Class
MONDO:0007727	biolink:NamedThing	autosomal dominant familial periodic fever	Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.	mondoexuq1wtf	tumor necrosis factor receptor 1-associated periodic syndrome|TNF receptor-associated periodic fever syndrome|FHF|TNF receptor 1-associated periodic syndrome|FPF|tumor necrosis factor receptor 1 associated periodic syndrome|periodic FEVER, familial, autosomal dominant|TRAPS|Hibernian fever, familial|TNF receptor-associated periodic syndrome|familial Hibernian fever|TRAPS syndrome|tumor necrosis factor receptor-associated periodic syndrome											Orphanet:32960|MESH:C536657|OMIM:142680|ICD10:E85.0|NCIT:C119051|GARD:0008457|SCTID:403833009|DOID:0090018																		owl:Class
MONDO:0006496	biolink:NamedThing	palsy	A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)	mondoexuq1wtf	Plegia|Plegias											EFO:1000631|Wikipedia:Palsy|MESH:D010243																		owl:Class
MONDO:0017005	biolink:NamedThing	Y chromosome number anomaly		mondoexuq1wtf												Orphanet:263746																		owl:Class
MONDO:0002812	biolink:NamedThing	infectious otitis interna	Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.	mondoexuq1wtf	inner Ear infection|inner ear infection|infectious labyrinthitis|infectious otitis interna|internal Ear infection											NCIT:C27339|UMLS:C1168225																		owl:Class
MONDO:0019251	biolink:NamedThing	oligosaccharidosis		mondoexuq1wtf												ICD10:E77.1|Orphanet:79215																		owl:Class
MONDO:0019214	biolink:NamedThing	inborn carbohydrate metabolic disorder	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.	mondoexuq1wtf	carbohydrate metabolic disorder|disorder of carbohydrate metabolism|rare inborn error of carbohydrate metabolic process|carbohydrate metabolism disorder|inborn carbohydrate metabolism disorder|inborn error of carbohydrate metabolic process|inborn carbohydrate metabolic process disorder|disorder of carbohydrate transport and metabolism|inborn errors of carbohydrate metabolism											NCIT:C97089|MedDRA:10061023|MESH:D002239|Orphanet:79161|ICD9:271.8|EFO:1000061|DOID:2978																		owl:Class
MONDO:0006426	biolink:NamedThing	spinal cord primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.	mondoexuq1wtf	primitive neuroectodermal tumor of the spinal cord|spinal cord primitive neuroectodermal tumor|spinal cord PNET|spinal cord primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the spinal cord|primitive neuroectodermal tumor of spinal cord|primitive neuroectodermal neoplasm of spinal cord											DOID:6872|NCIT:C5406|EFO:1000545|UMLS:C1336048																		owl:Class
MONDO:0000640	biolink:NamedThing	central nervous system primitive neuroectodermal neoplasm	A neuroectodermal tumor that involves the central nervous system.	mondoexuq1wtf	central nervous system neuroectodermal tumor|CNS primitive neuroectodermal tumor|central primitive neuroectodermal tumor|central nervous system primitive neuroectodermal tumor (WHO grade IV)|CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor|CNS primitive neuroectodermal neoplasm|central primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of central nervous system|central nervous system primitive neuroectodermal neoplasm					NCIT calls this CNS embryonal tumor, NOS						NCIT:C5398|UMLS:CN201960|DOID:0060103																		owl:Class
MONDO:0020647	biolink:NamedThing	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		mondoexuq1wtf	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome|MFRG											OMIM:618142																		owl:Class
MONDO:0009537	biolink:NamedThing	lymphoid interstitial pneumonia	Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.	mondoexuq1wtf	LIP|lymphocytic interstitial pneumonitis|lymphocytic interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue|lymphoid interstitial pneumonia|lymphocytic interst. pneumonitis											UMLS:C0264511|NCIT:C27558|MESH:C562489|SCTID:44274007|Orphanet:79128|ICD10:J84.1|ICD10:J84.2|MedDRA:10062997|OMIM:247610|DOID:0050159|ICD9:516.8																		owl:Class
MONDO:0002429	biolink:NamedThing	idiopathic interstitial pneumonia	A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).	mondoexuq1wtf	idiopathic interstitial pneumonitis|noninfectious pneumonia|diffuse idiopathic pulmonary fibrosis|IPF|idiopathic fibrosing alveolitis|IIp											Orphanet:98300|ICD10:J84.11|DOID:2797|ICD10:J84.112|MESH:D054988|SCTID:700249006|NCIT:C35714|UMLS:C2350236|ICD10:J84.114																		owl:Class
MONDO:0034204	biolink:NamedThing	syndromic congenital sodium diarrhea		mondoexuq1wtf												Orphanet:563708																		owl:Class
MONDO:0015170	biolink:NamedThing	congenital sodium diarrhea	Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.	mondoexuq1wtf	Na-H exchange deficiency											ICD10:P78.3|Orphanet:103908|SCTID:18805001																		owl:Class
MONDO:0009246	biolink:NamedThing	Friedreich ataxia and congenital glaucoma		mondoexuq1wtf	Friedreich ataxia and congenital glaucoma											UMLS:C1856688|OMIM:229310|MESH:C538061																		owl:Class
MONDO:0017100	biolink:NamedThing	neutropenia-monocytopenia-deafness syndrome	Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	mondoexuq1wtf												UMLS:CN202458|ICD10:D82.8|Orphanet:2690																		owl:Class
MONDO:0000630	biolink:NamedThing	immune system organ benign neoplasm	A benign neoplasm that involves the immune organ.	mondoexuq1wtf	immune organ benign neoplasm											DOID:0060092																		owl:Class
MONDO:0100237	biolink:NamedThing	inherited cutis laxa	An instance of cutis laxa that is inherited.	mondoexuq1wtf	hereditary cutis laxa							http://orcid.org/0000-0001-5208-3432				OMIMPS:123700																		owl:Class
MONDO:0018011	biolink:NamedThing	juvenile overlap myositis	Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	mondoexuq1wtf												Orphanet:329894|ICD10:M33.0|SCTID:766252004																		owl:Class
MONDO:0018010	biolink:NamedThing	juvenile idiopathic inflammatory myopathy		mondoexuq1wtf	JIIM											Orphanet:329888																		owl:Class
MONDO:0019074	biolink:NamedThing	bilateral acute depigmentation of the iris	Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	mondoexuq1wtf	BADI											Orphanet:69736|SCTID:720460007																		owl:Class
MONDO:0001606	biolink:NamedThing	central nervous system leukemia	Leukemia infiltrating the central nervous system structures.	mondoexuq1wtf	leukemia of the CNS|central nervous system leukemia|leukemia (disease) of central nervous system|leukemia of CNS|CNS leukemia|leukemia of central nervous system|central nervous system leukemia (disease)|leukemia of the central nervous system											DOID:12969|NCIT:C5440|UMLS:C1332884																		owl:Class
MONDO:0003641	biolink:NamedThing	central nervous system hematopoietic neoplasm	A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.	mondoexuq1wtf	hematopoietic neoplasm of the CNS|hematopoietic tumor of central nervous system|central nervous system hematopoietic neoplasm|hematopoietic neoplasm of central nervous system|lymphomas and hemopoietic neoplasms of the CNS|CNS hematopoietic neoplasm|central nervous system hematopoietic neoplasms|CNS hematopoietic tumor|central nervous system hematopoietic and lymphoid system neoplasm|hematopoietic neoplasm of CNS|hematopoietic neoplasm of the central nervous system|hematopoietic and lymphoid system neoplasm of central nervous system|hematopoietic tumor of the central nervous system|central nervous system hematopoietic tumor|lymphomas and hemopoietic neoplasms of CNS|central nervous system hematologic cancer											DOID:5772|NCIT:C5503|UMLS:C1332882																		owl:Class
MONDO:0011003	biolink:NamedThing	dilated cardiomyopathy 1E	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.	mondoexuq1wtf	cardiomyopathy, dilated, with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|cardiomyopathy, dilated, type 1E|cardiomyopathy, dilated, with conduction defect 2|CMD1E|cardiomyopathy dilated with conduction defect type 2|dilated cardiomyopathy with conduction disorder and arrhythmia|SCN5A familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1E|CDCD2|cardiomyopathy, dilated, 1E|dilated cardiomyopathy with conduction defect 2											ICD10:I42.0|DOID:0110433|OMIM:601154|GARD:0005644|MESH:C563384|UMLS:C1832680														https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2				owl:Class
MONDO:0016311	biolink:NamedThing	Bockenheimer syndrome		mondoexuq1wtf	genuine diffuse phlebectasia											UMLS:CN201119|Orphanet:217008|GARD:0013063|ICD10:Q27.4																		owl:Class
MONDO:0027026	biolink:NamedThing	Buschke Lowenstein tumor	A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.	mondoexuq1wtf	tumor, Buschke-Lowenstein|anogenital type verrucous carcinoma|GCBL|Giant condyloma of Buschke and Lowenstein|Buschke Lowenstein tumor|giant condyloma of Buschke and Lowenstein|Buschke-Lowenstein tumor|giant condyloma acuminatum involving the prepuce and glans penis|Lowenstein tumor, Buschke|condyloma Acuminatums, Giant|tumor, Buschke Lowenstein|condyloma Acuminatum, Giant|Giant condyloma Acuminatum|Giant condyloma Acuminatums											NCIT:C6371|GARD:0009663|SCTID:402910001|MESH:D062688|UMLS:C0276264																		owl:Class
MONDO:0006006	biolink:NamedThing	verrucous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.	mondoexuq1wtf	warty carcinoma|verrucous carcinoma|verrucous epidermoid cell carcinoma|verrucous squamous cell carcinoma|verrucous squamous carcinoma|verrucous epidermoid carcinoma|verrucous carcinoma NOS (morphologic abnormality)											NCIT:C3781|ICD9:199.1|EFO:0007535|DOID:3737|MESH:D018289|UMLS:C0206706|SCTID:403904009|ICDO:8051/3																		owl:Class
MONDO:0013021	biolink:NamedThing	sterile multifocal osteomyelitis with periostitis and pustulosis	An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.	mondoexuq1wtf	deficiency of the Interleukin-1 receptor antagonist|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|DIRA|Interleukin-1 receptor antagonist deficiency|OMPP|deficiency of interleukin-1 receptor antagonist|Interleukin 1 receptor antagonist deficiency											GARD:0010516|NCIT:C119056|OMIM:612852|Orphanet:210115|UMLS:C2748507|MESH:C557815																		owl:Class
MONDO:0008124	biolink:NamedThing	omphalocele, autosomal		mondoexuq1wtf	chromosome 1P31 Duplication syndrome|paraomphalocele|type - hypogastric - defect in the caudal fold|type - epigastric - defect in the cephalic fold|omphalocele, autosomal											GARD:0004218|OMIM:164750|UMLS:C3277235																		owl:Class
MONDO:0017077	biolink:NamedThing	myelocystocele		mondoexuq1wtf												ICD10:Q05.3|Orphanet:268813|ICD10:Q05.1|SCTID:203994003|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.2|ICD10:Q05.5|ICD10:Q05.6|ICD10:Q05.4|ICD10:Q05.9|ICD10:Q05.0																		owl:Class
MONDO:0017069	biolink:NamedThing	spina bifida cystica	A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.	mondoexuq1wtf	open spina bifida|spina bifida aperta|spina bifida manifesta|myelomeningocele|meningomyelocele|spina bifida, open											MedDRA:10071011|ICD10:Q05.6|NCIT:C101201|ICD10:Q05.3|Orphanet:268744|ICD10:Q05.1|MESH:D016137|ICD10:Q05.7|ICD10:Q05.2|ICD10:Q05.8|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.9|ICD10:Q05.0																		owl:Class
MONDO:0011389	biolink:NamedThing	autosomal dominant nonsyndromic deafness 16	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.	mondoexuq1wtf	autosomal dominant deafness 16|DFNA16|autosomal dominant nonsyndromic deafness type 16|deafness, autosomal dominant 16											DOID:0110547|MESH:C565832|ICD10:H90.3|UMLS:C1858916|OMIM:603964																		owl:Class
MONDO:0004117	biolink:NamedThing	ampulla of vater small cell neuroendocrine carcinoma	An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	mondoexuq1wtf	ampullary small cell carcinoma|ampulla of Vater small cell carcinoma|small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell neuroendocrine carcinoma|hepatopancreatic ampulla small cell carcinoma|ampulla of Vater small cell NEC											NCIT:C6655|DOID:7136|UMLS:C1332250																		owl:Class
MONDO:0021512	biolink:NamedThing	benign neoplasm of thymus	A benign neoplasm that involves the thymus.	mondoexuq1wtf	benign Thymus tumor|benign thymic neoplasm|benign thymic tumor|benign Thymus neoplasm|benign tumor of Thymus|benign tumor of the Thymus|thymus benign neoplasm|benign neoplasm of the Thymus											NCIT:C4458|ICD10:D15.0|UMLS:C0345975|SCTID:92437008|ICD9:212.6																		owl:Class
MONDO:0017229	biolink:NamedThing	distal monosomy 12p	Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	mondoexuq1wtf	distal monosomy type 12p|Del(12)(p13.33)|distal deletion 12p|12p13.33 microdeletion syndrome											ICD10:Q93.5|Orphanet:280325|UMLS:CN202714																		owl:Class
MONDO:0017848	biolink:NamedThing	partial deletion of the short arm of chromosome 12		mondoexuq1wtf	partial monosomy of chromosome 12p|partial deletion of the short arm of chromosome type 12|partial monosomy of the short arm of chromosome 12|partial deletion of chromosome 12p											ICD10:Q93.5|Orphanet:316244|MESH:C538302																		owl:Class
MONDO:0014459	biolink:NamedThing	Adams-Oliver syndrome 5	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.	mondoexuq1wtf	Notch1 Adams-Oliver syndrome|NOTCH1 Adams-Oliver syndrome|Adams-Oliver syndrome type 5|Adams-Oliver syndrome 5|Adams-Oliver syndrome caused by mutation in Notch1|AOS5|Adams-Oliver syndrome caused by mutation in NOTCH1											OMIM:616028|UMLS:C4014970																		owl:Class
MONDO:0010414	biolink:NamedThing	myopathy, reducing body, X-linked, early-onset, severe		mondoexuq1wtf	reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|myopathy, reducing body, X-linked, early-onset, severe|RBMX1A											MESH:C567469|UMLS:C2678027|OMIM:300717																		owl:Class
MONDO:0004883	biolink:NamedThing	hereditary choroidal atrophy		mondoexuq1wtf												SCTID:74469006|ICD9:363.5|UMLS:C0154893|ICD10:H31.2|ICD9:363.50|DOID:9794|ICD10:H31.20																		owl:Class
MONDO:0004885	biolink:NamedThing	choroidal sclerosis	A neurodegenerative disease that involves the optic choroid.	mondoexuq1wtf	neurodegenerative disease of optic choroid|choroidal degenerations|optic choroid neurodegenerative disease											ICD9:363.40|ICD10:H31.1|ICD9:363.4|ICD10:H31.10|DOID:980|MESH:C535358|SCTID:406446000																		owl:Class
MONDO:0002547	biolink:NamedThing	nerve sheath neoplasm	A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.	mondoexuq1wtf	neoplasm of nerve sheath|nerve sheath tumor|tumor of nerve sheath|peripheral nerve sheath neoplasm|neoplasm of the nerve sheath|nerve sheath tumour|nerve sheath neoplasm											ONCOTREE:NST|DOID:3193|NCIT:C4972|MESH:D018317																		owl:Class
MONDO:0006489	biolink:NamedThing	vaginal melanoma	A primary malignant neoplasm of the vagina composed of malignant melanocytes.	mondoexuq1wtf	melanoma of vagina|melanoma of the vagina|mucosal melanoma of the vulva/vagina|vagina melanoma|vagina melanoma (disease)|vaginal melanoma|melanoma (disease) of vagina											EFO:1000619|NCIT:C27394|ONCOTREE:VMM|UMLS:C2004576																		owl:Class
MONDO:0000544	biolink:NamedThing	mucosal melanoma	A melanoma that arises from a mucosal site.	mondoexuq1wtf	mucosal melanoma											UMLS:C3898222|DOID:0050929|NCIT:C114828																		owl:Class
MONDO:0100132	biolink:NamedThing	intrahepatic bile duct adenosquamous carcinoma	An adenosquamous carcinoma that arises from the intrahepatic bile ducts.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0011094	biolink:NamedThing	dilated cardiomyopathy 1C	A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.	mondoexuq1wtf	CMD1C|CMDC1|dilated cardiomyopathy type 1C|dilated cardiomyopathy 1C with or without left ventricular noncompaction|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 24|left ventricular noncompaction 3											ICD10:I42.0|DOID:0110423|MESH:C563307|NCIT:C170436|OMIM:601493																		owl:Class
MONDO:0005070	biolink:NamedThing	neoplasm	A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.	mondoexuq1wtf	neoplasm|other neoplasm|neoplasia|cell process disease|neoplastic disease|neoplastic growth|neoplasm (disease)|disease of cellular proliferation|tumor disease|tumor		neoplasm (disease)									DOID:14566|UMLS:CN236628|MESH:D009369|ICD9:140-239.99|SCTID:55342001|COHD:438112|ICD9:239.8|EFO:0000616|ICD10:C00.D48|HP:0002664|NCIT:C3262|ICD9:239.9|ONCOTREE:OTHER																		owl:Class
MONDO:0010354	biolink:NamedThing	Allan-Herndon-Dudley syndrome	Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.	mondoexuq1wtf	X-linked intellectual disability-hypotonia syndrome|monocarboxylate transporter-8 deficiency|Allan-Herndon-Dudley syndrome|X-linked intellectual disability with hypotonia|monocarboxylate transporter 8 deficiency|T3 resisitence|mental retardation, X-linked, with hypotonia|MCT8 deficiency|intellectual disability and muscular atrophy|T3 resistance|mental retardation and muscular atrophy|ALLAN-Herndon syndrome|Allan-Herndon syndrome|triiodothyronine resistance|intellectual disability, X-linked, with hypotonia|MCT8-specific thyroid hormone cell Membrane transporter deficiency|AHDS|triiodothyronine resistence|ALLAN-Herndon-DUDLEY syndrome											OMIM:300523|ICD10:E03.1|NCIT:C118843|GARD:0005617|DOID:0050631|SCTID:702327009|MESH:C537047|ICD10:G31.8|Orphanet:59|UMLS:C0795889														https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome				owl:Class
MONDO:0006846	biolink:NamedThing	malignant hypertension	Severe hypertension that is characterized by rapid onset of extremely high blood pressure.	mondoexuq1wtf	MHT|hypertensive emergency|malignant phase hypertension|accelerated-malignant hypertension											MedDRA:10025600|DOID:10824|UMLS:C0020540|EFO:1001031|SCTID:70272006|UMLS:C0745136|MESH:D006974																		owl:Class
MONDO:0004964	biolink:NamedThing	peripheral T-cell lymphoma, not otherwise specified	Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.	mondoexuq1wtf	PTCL											ONCOTREE:PTCL|EFO:0000211|NCIT:C4340																		owl:Class
MONDO:0020272	biolink:NamedThing	connective tissue disease with eye involvement		mondoexuq1wtf												Orphanet:98702|UMLS:CN207077														https://github.com/monarch-initiative/mondo/issues/3594				owl:Class
MONDO:0019358	biolink:NamedThing	encephalopathy due to sulfite oxidase deficiency	Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	mondoexuq1wtf												SCTID:715980003|UMLS:C4275019|Orphanet:833|ICD10:E72.1																		owl:Class
MONDO:0003874	biolink:NamedThing	ovarian serous surface papillary adenocarcinoma	A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.	mondoexuq1wtf	serous surface papillary carcinoma of the ovary|ovary papillary carcinoma|serous surface papillary carcinoma of ovary|ovarian serous surface papillary adenocarcinoma											NCIT:C6256|UMLS:C1335178|DOID:6408																		owl:Class
MONDO:0017048	biolink:NamedThing	pseudomyxoma peritonei	Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.	mondoexuq1wtf	PMP|pseudomyxoma peritonei|syndrome of pseudomyxoma peritonei|peritoneal cavity pseudomyxoma peritonei|Myxoma peritonei|pseudomyxoma peritonei (morphologic abnormality)|Adenomucinosis|gelatinous ascites|well differentiated peritoneal mucinous adenocarcinoma|mucinous ascites											MedDRA:10037138|SCTID:307601000|ICD10:C78.6|GARD:0002448|DOID:3559|UMLS:C0033822|ICDO:8480/6|EFO:0007456|NCIT:C3345|GARD:0007488|Orphanet:26790|MESH:D011553																		owl:Class
MONDO:0015682	biolink:NamedThing	primary peritoneal tumor		mondoexuq1wtf												Orphanet:168803|UMLS:CN200180																		owl:Class
MONDO:0015653	biolink:NamedThing	monogenic epilepsy		mondoexuq1wtf	monogenic disease with epilepsy											UMLS:CN200063|Orphanet:166472																		owl:Class
MONDO:0010108	biolink:NamedThing	testicular germ cell tumor	A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	mondoexuq1wtf	endodermal sinus tumor|germ cell tumor of the testis|teratoma, testicular|TGCT|nonseminomatous germ cell tumors|germ cell neoplasm of the testis|testicular germ cell cancer|germ cell tumor of testis|embryonal cell carcinoma|germ cell neoplasm of testis|spermatocytic seminoma|testis germ cell tumor|testicular germ cell neoplasms|testicular germ cell tumor|testicular germ cell neoplasm|seminoma|Male germ cell tumor											GARD:0013047|NCIT:C8591|MESH:C563236|SCTID:713577007|Orphanet:363504|ICD9:239.5|DOID:5557|UMLS:C1336708|OMIM:273300|ICD10:C62.1|EFO:1000566																		owl:Class
MONDO:0007487	biolink:NamedThing	dyslexia, susceptibility to, 1		mondoexuq1wtf	dyslexia, susceptibility to, 4|dyslexia, susceptibility to, 7|DYX1|Word-blindness, congenital|dyslexia, susceptibility to, type 1|reading disability, specific, 1|susceptibility to dyslexia 1|dyslexia, susceptibility to, 1											OMIM:127700																		owl:Class
MONDO:0019597	biolink:NamedThing	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.	mondoexuq1wtf												Orphanet:90796|UMLS:CN206443|ICD10:E29.1																		owl:Class
MONDO:0019596	biolink:NamedThing	46,XY disorder of sex development due to testicular steroidogenesis defect		mondoexuq1wtf	46,XY DSD due to testicular steroidogenesis defect											Orphanet:90787|ICD10:E29.1|UMLS:CN227658																		owl:Class
MONDO:0006381	biolink:NamedThing	plexiform ameloblastoma	A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.	mondoexuq1wtf												NCIT:C39753|UMLS:C0457529|EFO:1000487																		owl:Class
MONDO:0017795	biolink:NamedThing	ameloblastoma	The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.	mondoexuq1wtf	Adenoameloblastoma|adamantinoma|aot|adenomatoid odontogenic tumor|ameloblastoma|ameloblastoma of jaw											ICD10:C41.1|DOID:0050894|Orphanet:314419|ICDO:9310/0|UMLS:C0563212|MESH:D000564|NCIT:C4313|UMLS:C0002448|GARD:0005747|SCTID:285311001|MedDRA:10066796																		owl:Class
MONDO:0017656	biolink:NamedThing	motor stereotypies		mondoexuq1wtf												Orphanet:306765																		owl:Class
MONDO:0022580	biolink:NamedThing	blepharo naso facial syndrome van Maldergem type	A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.	mondoexuq1wtf												GARD:0000902														https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type				owl:Class
MONDO:0018433	biolink:NamedThing	acute myeloid leukemia with t(6;9)(p23;q34)	Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.	mondoexuq1wtf	AML with t(6;9)(p23;q34)											Orphanet:402014|ICD10:C92.0																		owl:Class
MONDO:0010122	biolink:NamedThing	congenital thrombotic thrombocytopenic purpura	Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	mondoexuq1wtf	thrombotic thrombocytopenic purpura, familial|TTP, congenital|Upshaw-Schulman syndrome|congenital ADAMTS-13 deficiency|TTP|hereditary thrombotic thrombocytopenic purpura|Microangiopathic hemolytic Anemia, congenital|USS|Schulman-Upshaw syndrome|thrombotic thrombocytopenic purpura, congenital|congenital ADAMTS13 deficiency|familial TTP|Upshaw Factor, deficiency of|Microangiopathic hemolytic Anemia|congenital TTP|thrombotic microangiopathy, familial											OMIM:274150|NCIT:C131657|ICD9:287.33|GARD:0009430|Orphanet:93583|ICD10:M31.3|SCTID:373420004																		owl:Class
MONDO:0100238	biolink:NamedThing	inherited Fanconi renotubular syndrome	An instance of Fanconi renotubular syndrome that is inherited.	mondoexuq1wtf	hereditary Fanconi renotubular syndrome							http://orcid.org/0000-0001-5208-3432				OMIMPS:134600																		owl:Class
MONDO:0017300	biolink:NamedThing	congenital pericardium anomaly	Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).	mondoexuq1wtf												ICD9:746.89|Orphanet:2846|SCTID:93018000|ICD10:Q24.8																		owl:Class
MONDO:0019512	biolink:NamedThing	congenital heart malformation	A disease that has its basis in the disruption of heart development.	mondoexuq1wtf	congenital non-syndromic heart malformation|heart development disease|congenital heart malformation|rare congenital non-syndromic heart malformation|disorder of heart development											EFO:0005269|Orphanet:88991																		owl:Class
MONDO:0019193	biolink:NamedThing	acquired generalized lipodystrophy	Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).	mondoexuq1wtf	Lawrence syndrome|acquired generalized lipodystrophy|acquired lipoatrophic diabetes|Lawrence-Seip syndrome											ICD10:E88.1|SCTID:86907008|NCIT:C131089|Orphanet:79086|DOID:0080300|UMLS:C0271693|GARD:0012603														https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy				owl:Class
MONDO:0027766	biolink:NamedThing	generalized lipodystrophy	Almost complete absence of subcutaneous and/or visceral adipose tissue.	mondoexuq1wtf	complete generalized lipodystrophy											DOID:0080298|HP:0009064|NCIT:C131815|UMLS:C4317112																		owl:Class
MONDO:0019088	biolink:NamedThing	post-transplant lymphoproliferative disease	Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)	mondoexuq1wtf	PTLD|post-transplant lymphoproliferative disorder											UMLS:C0432487|NCIT:C4727|SCTID:254290004|GARD:0009553|Orphanet:70568|ICDO:9971/1|ICD10:D47.9|MedDRA:10051358														https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease				owl:Class
MONDO:0017343	biolink:NamedThing	Epstein-Barr virus-associated malignant lymphoproliferative disorder		mondoexuq1wtf	EBV-associated lymphoproliferative disorder					the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV						UMLS:C2363744|Orphanet:289644|MedDRA:10068349																		owl:Class
MONDO:0013522	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 3	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.	mondoexuq1wtf	dyskeratosis congenita, autosomal dominant 3|DKCA3|dyskeratosis congenita, autosomal dominant type 3|autosomal dominant dyskeratosis congenita 3											OMIM:613990|UMLS:C3151445|DOID:0070018																		owl:Class
MONDO:0100218	biolink:NamedThing	arthrogryposis multiplex congenita 5		mondoexuq1wtf	AMC5|ARTHROGRYPOSIS MULTIPLEX CONGENITA 5							http://orcid.org/0000-0001-5208-3432				OMIM:618947																		owl:Class
MONDO:0015168	biolink:NamedThing	arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.	mondoexuq1wtf	Guérin-Stern syndrome|amyoplasia congenita|myodysplasia|Rossi syndrome|congenital arthromyodysplasia|Arthromyodysplasia congenita|AMC|multiple congenital arthrogryposis|Guerin-Stern syndrome|myodystrophia fetalis deformans|rocher-Sheldon syndrome|fibrous ankylosis of multiple joints|Otto syndrome|congenital amyoplasia											MedDRA:10051643|GARD:0000777|ICD10:Q74.3|OMIMPS:617468|Orphanet:1037																		owl:Class
MONDO:0008541	biolink:NamedThing	spermatic cord torsion	An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.	mondoexuq1wtf	testicular torsion|torsion of testicle|torsion of testicular cord|torsion of testis											ICD9:608.2|ICD10:N44.0|DOID:11996|NCIT:C26885|OMIM:187400|COHD:435315|ICD10:N44.02|UMLS:C0037856|MESH:D013086|ICD9:608.20|SCTID:81996005|ICD10:N44.00																		owl:Class
MONDO:0002329	biolink:NamedThing	testicular disease	A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.	mondoexuq1wtf	testicular disorder|testis disease or disorder|disease of testis|disease or disorder of testis|testicular disease|disorder of testis|testis disease|testis disorder											NCIT:C26890|SCTID:64910008|DOID:2519|ICD9:608.89|UMLS:C0039584|MESH:D013733																		owl:Class
MONDO:0001188	biolink:NamedThing	esophagus lymphoma	An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	mondoexuq1wtf	lymphoma of the esophagus|esophageal lymphoma|esophagus lymphoma|primary esophageal lymphoma|lymphoma of esophagus											NCIT:C5687|DOID:1106|UMLS:C1333459																		owl:Class
MONDO:0044631	biolink:NamedThing	early-onset familial noncirrhotic portal hypertension		mondoexuq1wtf												Orphanet:494348																		owl:Class
MONDO:0018052	biolink:NamedThing	hypoplastic tibiae-postaxial polydactyly syndrome	Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.	mondoexuq1wtf	Werner mesomelic syndrome											UMLS:CN204341|ICD10:Q74.8|Orphanet:3332|SCTID:716741008																		owl:Class
MONDO:0054850	biolink:NamedThing	ovarian dysgenesis 6		mondoexuq1wtf	ODG6|ovarian dysgenesis 6											OMIM:618078|DOID:0080498																		owl:Class
MONDO:0009299	biolink:NamedThing	46 XX gonadal dysgenesis	46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.	mondoexuq1wtf	46,XX complete gonadal dysgenesis|XX female gonadal dysgenesis|46,XX pure gonadal dysgenesis|ovarian dysgenesis|XX-GD|hypergonadotropic ovarian dysgenesis|follicular stimulating hormone-resistant ovaries|XX gonadal dysgenesis|46,XX ovarian dysgenesis|46,XX gonadal dysgenesis|FSH-RO											Orphanet:243|MESH:D023961|UMLS:C0949595|DC:0000000|SCTID:95198001|DOID:14450|NCIT:C120197|OMIMPS:233300|ICD10:Q99.1																		owl:Class
MONDO:0010436	biolink:NamedThing	chromosome Xq28 duplication syndrome		mondoexuq1wtf	chromosome Xq28 duplication syndrome											MESH:C567580|UMLS:C2749007|OMIM:300815																		owl:Class
MONDO:0010283	biolink:NamedThing	syndromic X-linked intellectual disability Lubs type	Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.	mondoexuq1wtf	telomeric duplication Xq|mental retardation, X-linked, Lubs type (formerly)|XLMR syndrome, Lubs type|mental retardation, X-linked, with recurrent respiratory infections|distal duplication Xq|X-linked intellectual disability-hypotonia-recurrent infections syndrome|intellectual disability, X-linked, with recurrent respiratory infections|intellectual disability, X-linked, syndromic, Lubs type|MECP2 duplication syndrome|MRXSL|Lubs X-linked intellectual disability syndrome (formerly)|Lubs X-linked mental retardation syndrome|intellectual disability, X-linked, Lubs type (formerly)|trisomy Xq28|Lubs X-linked mental retardation syndrome (formerly)|MECP2 Duplication syndrome|mental retardation, X-linked, syndromic, Lubs type|Lubs X-linked intellectual disability syndrome											OMIM:300260|MESH:C537723|ICD9:758.89|ICD10:Q87.8|UMLS:C1846058|SCTID:702816000|GARD:0009781|DOID:0060799|Orphanet:1762|ICD10:Q99.8|NCIT:C126747																		owl:Class
MONDO:0013004	biolink:NamedThing	hypotonia, seizures, and precocious puberty		mondoexuq1wtf	hypotonia, seizures, and precocious puberty											MESH:C567566|UMLS:C2748586|OMIM:612777																		owl:Class
MONDO:0013302	biolink:NamedThing	nephronophthisis 11	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.	mondoexuq1wtf	nephronophthisis 11|NPHP11|nephronophthisis type 11											UMLS:C3150796|OMIM:613550|DOID:0111118																		owl:Class
MONDO:0019005	biolink:NamedThing	nephronophthisis	Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.	mondoexuq1wtf	medullary cystic disease|nephronophthisis|medullary cystic kidney|nephronophthisis (disease)		nephronophthisis (disease)									UMLS:C2939174|GARD:0000206|NCIT:C123200|UMLS:C0687120|Orphanet:655|ICD10:Q61.5|HP:0000090|DOID:12712|OMIMPS:256100																		owl:Class
MONDO:0044745	biolink:NamedThing	nervous system injury	Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.	mondoexuq1wtf	Injuries, nervous system|nervous system Injuries|nervous system Traumas|craniocervical Injuries|injury of nervous system|Injuries, craniocervical|nervous system trauma|craniocervical injury|injury, craniocervical|nervous system injury|injury, nervous system											MESH:D020196|SCTID:128239009																		owl:Class
MONDO:0019336	biolink:NamedThing	Gardner syndrome	Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.	mondoexuq1wtf	Gardner's syndrome|polyposis coli and multiple hard and soft tissue tumors|Gardner syndrome|intestinal polyposis, osteomas, sebaceous cysts											ICD10:D12.6|GARD:0006482|UMLS:C0017097|NCIT:C6728|MedDRA:10017727|MESH:D005736|Orphanet:79665|ICD9:759.89|SCTID:60876000																		owl:Class
MONDO:0007428	biolink:NamedThing	deafness-craniofacial syndrome	Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	mondoexuq1wtf	deafness craniofacial syndrome|deafness-craniofacial syndrome											OMIM:125230|ICD10:Q87.0|GARD:0001686|Orphanet:3241|SCTID:716245003|UMLS:C1852278|MESH:C565118														https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome				owl:Class
MONDO:0014198	biolink:NamedThing	mitochondrial DNA depletion syndrome 13	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.	mondoexuq1wtf	mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|encephalomyopathic mitochondrial DNA depletion syndrome-13|FBXL4 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|MTDPS13|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|mitochondrial DNA depletion syndrome type 13|BXL4-related early-onset mitochondrial encephalopathy|FBXL4 deficiency											DOID:0080131|UMLS:C3809592|SCTID:765403009|OMIM:615471|GARD:0013298|Orphanet:369897|ICD10:E88.8																		owl:Class
MONDO:0016796	biolink:NamedThing	mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	mondoexuq1wtf	mtDNA depletion syndrome, encephalomyopathic form											UMLS:CN230130|UMLS:CN202052|Orphanet:254803																		owl:Class
MONDO:0021634	biolink:NamedThing	epithelial skin neoplasm	A epithelial neoplasm that involves the zone of skin.	mondoexuq1wtf	zone of skin epithelial neoplasm|epithelial skin tumor|skin epithelium neoplasm|skin epithelium tumor|epithelial skin neoplasm											UMLS:C0345976|NCIT:C7342																		owl:Class
MONDO:0015590	biolink:NamedThing	classic paraneoplastic limbic encephalitis	Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.	mondoexuq1wtf	classic paraneoplastic limbic encephalitis, with or without intracellular antigens											Orphanet:163898|ICD10:G13.1																		owl:Class
MONDO:0015589	biolink:NamedThing	paraneoplastic limbic encephalitis	A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.	mondoexuq1wtf	limbic encephalitis											Orphanet:163895|ICD9:323.81|SCTID:445014002|NCIT:C4350|ICD10:G13.1																		owl:Class
MONDO:0013598	biolink:NamedThing	myostatin-related muscle hypertrophy	Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.	mondoexuq1wtf	MSLHP|muscle hypertrophy											MESH:C536106|Orphanet:275534|ICD9:756.89|GARD:0010238|HGNC:4223|DOID:0111072|SCTID:699185005|OMIM:614160														https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy				owl:Class
MONDO:0003939	biolink:NamedThing	muscle tissue disease	A disease involving the muscle tissue.	mondoexuq1wtf	disorder of muscle tissue|disease or disorder of muscle tissue|disease of muscle tissue|muscle tissue disease or disorder|muscle tissue disease											DOID:66																		owl:Class
MONDO:0020531	biolink:NamedThing	long chain acyl-CoA dehydrogenase deficiency	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.	mondoexuq1wtf	long-chain acyl-CoA dehydrogenase deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|LCAD|inborn error of long-chain-acyl-CoA dehydrogenase activity|acyl-CoA dehydrogenase, long-chain deficiency|LCAD deficiency|long-chain acyl-Coenzyme A dehydrogenase deficiency|inborn long-chain-acyl-CoA dehydrogenase activity disorder|ACADL deficiency											MESH:C535690|NCIT:C84537|SCTID:237996001|GARD:0009700|ICD10:E71.3|UMLS:C0220711|Orphanet:99900																		owl:Class
MONDO:0002816	biolink:NamedThing	adrenal cortex disease	A disease involving the adrenal cortex.	mondoexuq1wtf	disease or disorder of adrenal cortex|disease of adrenal cortex|adrenal cortex disease or disorder|adrenal cortex disease|disorder of adrenal cortex											SCTID:129636003|MESH:D000303|DOID:3952|UMLS:C0001614																		owl:Class
MONDO:0004047	biolink:NamedThing	sphenoidal sinus neoplasm	A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	sphenoid sinus neoplasm|tumor of the sphenoid sinus|sphenoidal sinus tumor|tumor of the sphenoidal sinus|neoplasm of the sphenoid sinus|sphenoidal sinus neoplasm (disease)|sphenoidal sinus neoplasm|neoplasm of the sphenoidal sinus|tumor of sphenoid sinus|tumor of sphenoidal sinus|neoplasm of sphenoidal sinus|neoplasm of sphenoid sinus|sphenoid sinus tumor										MONDO:0021216	UMLS:C0345676|SCTID:126679002|NCIT:C6792|DOID:6947																		owl:Class
MONDO:0001845	biolink:NamedThing	uterine corpus lipoleiomyoma	A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.	mondoexuq1wtf	uterine corpus lipomatous leiomyoma											UMLS:C1519856|NCIT:C40168|EFO:1000614|DOID:13957																		owl:Class
MONDO:0015280	biolink:NamedThing	cardiofaciocutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.	mondoexuq1wtf	congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardio-facio-cutaneous syndrome|cardio-facial-cutaneous syndrome|CFC syndrome|CFC|cardiofaciocutaneous (CFC) syndrome											MESH:C535579|UMLS:C1275081|SCTID:403770008|OMIMPS:115150|GARD:0009146|Orphanet:1340|ICD10:Q87.8|NCIT:C84617|DOID:0060233																		owl:Class
MONDO:0009278	biolink:NamedThing	hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.	mondoexuq1wtf	HADHSC deficiency|Hadh deficiency|had deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency|medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|SCHAD deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|M-SCHAD deficiency|SCHAD deficiency, formerly|3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|HADH deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|hyperinsulinism due to SCHAD deficiency|M/SCHAD											ICD10:E71.3|GARD:0009870|MESH:C535310|Orphanet:71212														https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency				owl:Class
MONDO:0023101	biolink:NamedThing	facio digito genital syndrome recessive form		mondoexuq1wtf												GARD:0002226														https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form				owl:Class
MONDO:0006524	biolink:NamedThing	acrodermatitis chronica atrophicans	An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.	mondoexuq1wtf	Herxheimer disease|primary diffuse atrophy											ICD10:L90.4|EFO:1000665|ICD9:701.8|DERMO:0002165|SCTID:4340003|DOID:0060344|UMLS:C0263421																		owl:Class
MONDO:0006523	biolink:NamedThing	acrodermatitis	An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.	mondoexuq1wtf												DOID:2722|MESH:D000169|UMLS:C0001197|CSP:4008-0032|NCIT:C84532|ICD9:686.8|GARD:0005722|SCTID:8197001|EFO:1000664														https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis				owl:Class
MONDO:0010556	biolink:NamedThing	X-linked chondrodysplasia punctata	X-linked form of chondrodysplasia punctata.	mondoexuq1wtf	chondrodysplasia punctata, X-linked|CPXD|chondrodysplasia punctata, X-linked dominant|chondrodystrophia calcificans congenita|X-linked dominant chondrodysplasia punctata											DOID:0060292|ICD10:Q77.3|UMLS:C0263627																		owl:Class
MONDO:0018116	biolink:NamedThing	galactosemia	Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.	mondoexuq1wtf	galactosaemia|galactose intolerance|galactosemia											ICD10:E74.2|ICD10:E74.21|ICD9:271.1|NCIT:C84723|COHD:439788|MESH:D005693|MedDRA:10017604|SCTID:190745006|OMIMPS:230400|GARD:0002424|UMLS:C0016952|DOID:9870|Orphanet:352																		owl:Class
MONDO:0030020	biolink:NamedThing	combined oxidative phosphorylation deficiency 44		mondoexuq1wtf	COXPD44|combined oxidative phosphorylation deficiency 44|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44											OMIM:618855																		owl:Class
MONDO:0015929	biolink:NamedThing	thoracic malformation		mondoexuq1wtf												Orphanet:182108																		owl:Class
MONDO:0008218	biolink:NamedThing	Hailey-Hailey disease	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).	mondoexuq1wtf	familial benign pemphigus|familial benign chronic pemphigus|benign familial pemphigus|BCPM|benign chronic familial pemphigus of Hailey-Hailey|pemphigus, benign familial|Hailey-Hailey disease|benign chronic pemphigus											NCIT:C82865|MESH:D016506|Orphanet:2841|OMIM:169600|DOID:0050429|UMLS:C0085106|SCTID:79468000|ICD10:Q82.8|GARD:0006559														https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease				owl:Class
MONDO:0012052	biolink:NamedThing	ALG1-CDG	A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).	mondoexuq1wtf	congenital disorder of glycosylation, type Ik|congenital disorder of glycosylation type Ik|CDG1K|ALG1-CDG (CDG-Ik)|CDG-Ik|congenital disorder of glycosylation type 1k|mannosyltransferase 1 deficiency|carbohydrate deficient glycoprotein syndrome type Ik|CDG syndrome type Ik|CDG Ik|CDG 1K											MESH:C535749|DOID:0080563|OMIM:608540|UMLS:C2931005|ICD10:E77.8|GARD:0009838|Orphanet:79327|SCTID:720941007																		owl:Class
MONDO:0021075	biolink:NamedThing	neoplastic polyp		mondoexuq1wtf	neoplastic polyp											UMLS:C1334941|NCIT:C7068																		owl:Class
MONDO:0012165	biolink:NamedThing	BNAR syndrome	BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	mondoexuq1wtf	bifid nose with or without anorectal and renal anomalies|BNAR|bifid NOSE with or without anorectal and renal anomalies											UMLS:C4303547|OMIM:608980|Orphanet:217266|MESH:C567672|ICD10:Q87.8|UMLS:C2750433|GARD:0010595|SCTID:717940006																		owl:Class
MONDO:0003136	biolink:NamedThing	anti-basement membrane glomerulonephritis	Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.	mondoexuq1wtf	anti-GBM antibody disease|anti-glomerular basement Membrane antibody disease											UMLS:C1332309|NCIT:C35798|DOID:4780																		owl:Class
MONDO:0002462	biolink:NamedThing	glomerulonephritis	A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.	mondoexuq1wtf	nephritis of renal glomerulus|glomerulonephritis (disease)|renal glomerulus nephritis|glomerular nephritis|glomerulonephritis|bright's disease		glomerulonephritis (disease)									HP:0000099|MESH:D005921|ICD10:N08|GARD:0006516|ICD10:N05|UMLS:C0017658|NCIT:C26784|SCTID:36171008|ICD9:583.9|DOID:2921																		owl:Class
MONDO:0014698	biolink:NamedThing	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		mondoexuq1wtf	EHLMRS|epilepsy, hearing loss, and intellectual disability syndrome|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome|epilepsy, hearing loss, and mental retardation syndrome											OMIM:616577|Orphanet:457351|UMLS:C4225276																		owl:Class
MONDO:0012971	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 7	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.	mondoexuq1wtf	proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 7|nonproliferative retinopathy, diabetic, susceptibility to|MVCD7|HFE microvascular complications of diabetes, susceptibility|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in HFE|microvascular complications of diabetes, susceptibility to, 7											OMIM:612635																		owl:Class
MONDO:0000065	biolink:NamedThing	microvascular complications of diabetes, susceptibility		mondoexuq1wtf	microvascular complications of diabetes					Editor note: relationship to diabetic angiopathy						UMLS:CN357508|DC:0000281|OMIMPS:603933																		owl:Class
MONDO:0015455	biolink:NamedThing	gonococcal conjunctivitis	Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.	mondoexuq1wtf	conjunctivitis gonococcal|gonococcal ophthalmia neonatorum											ICD10:H13.1*|ICD10:A54.3+|ICD10:A54.31|SCTID:231858009|Orphanet:1482|NCIT:C116816|GARD:0002546														https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis				owl:Class
MONDO:0004277	biolink:NamedThing	gonorrhea	A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.	mondoexuq1wtf	acrodermatitis, infantile lichenoid|GC|chronic gonococcal infectious disease of upper genitourinary tract|Neisseria gonorrhoeae infection|Crosti-gianotti syndrome|PAC|infections, Neisseria gonorrhoeae|Gianotti Crosti syndrome|papular acrodermatitis of childhood|acrodermatitis, papular infantile|chronic gonococcal infectious disease of lower genitourinary tract|PAS											ICD9:098|MESH:D006069|SCTID:15628003|ICD9:098.32|NCIT:C92950|DOID:7551|ICD10:A54|ICD9:098.2|ICD9:098.89|COHD:433417|ICD10:A54.9|GARD:0006499|UMLS:C0018081																		owl:Class
MONDO:0000874	biolink:NamedThing	T-cell childhood lymphoblastic lymphoma	A T lymphoblastic lymphoma that occurs during childhood.	mondoexuq1wtf	childhood precursor T-lymphoblastic lymphoma|T lymphoblastic lymphoma|childhood T lymphoblastic lymphoma											EFO:1001948|UMLS:C1332998|DOID:0080148|NCIT:C7210																		owl:Class
MONDO:0000873	biolink:NamedThing	lymphoblastic lymphoma	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.	mondoexuq1wtf	precursor lymphoblastic lymphoma|lymphoma, lymphoblastic|lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant|precursor cell lymphoblastic lymphoma											ICD9:202.80|ICDO:9727/3|GARD:0003329|SCTID:109965004|UMLS:C0079748|DOID:0080147|NCIT:C9360														https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma				owl:Class
MONDO:0010507	biolink:NamedThing	Xq25 microduplication syndrome		mondoexuq1wtf	Xq25 triplication syndrome											UMLS:C4311049|Orphanet:521258|OMIM:300979																		owl:Class
MONDO:0017010	biolink:NamedThing	partial duplication of the long arm of chromosome X	Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome Xq duplication|partial duplication of the long arm of chromosome type X|partial trisomy Xq|partial trisomy of the long arm of chromosome X|Xq duplication|Xq trisomy|Duplication Xq|partial duplication of chromosome Xq|trisomy Xq|partial trisomy of chromosome Xq											ICD10:Q99.8|MESH:C536732|Orphanet:263783|GARD:0005369|UMLS:C0795891																		owl:Class
MONDO:0001574	biolink:NamedThing	capillary disease	A disease involving a capillary.	mondoexuq1wtf	capillary disease or disorder|disease or disorder of capillary|disease of capillaries|disorder of capillary|disease of capillary|capillary disease											UMLS:C0155765|ICD9:448.9|DOID:1271|ICD10:I78|ICD10:I78.9|ICD9:448|SCTID:58729003																		owl:Class
MONDO:0013389	biolink:NamedThing	developmental and epileptic encephalopathy, 12	Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.	mondoexuq1wtf	epileptic encephalopathy, early infantile, type 12|epileptic encephalopathy, early infantile, 12|early infantile epileptic encephalopathy 12|PLCB1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in PLCB1|DEE12|EIEE12											GARD:0013318|UMLS:C3150988|OMIM:613722|DOID:0080459														https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12				owl:Class
MONDO:0020380	biolink:NamedThing	autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.	mondoexuq1wtf	SCA|cerebellar ataxia, autosomal dominant|spinocerebellar ataxia|ADCA|autosomal dominant spinocerebellar ataxia|Pierre Marie cerebellar ataxia (formerly)											SCTID:129609000|ICD9:334.3|ICD10:G11.8|Orphanet:99|OMIMPS:164400|UMLS:CN227858|GARD:0004346|DOID:1441																		owl:Class
MONDO:0015368	biolink:NamedThing	neuro-ophthalmological disease		mondoexuq1wtf												UMLS:CN199459|Orphanet:140653																		owl:Class
MONDO:0060704	biolink:NamedThing	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		mondoexuq1wtf	Elhattab-Alkuraya syndrome|NEDSBAS|neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures											UMLS:CN244929|OMIM:617977																		owl:Class
MONDO:0007566	biolink:NamedThing	multiple self-healing squamous epithelioma	Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.	mondoexuq1wtf	ESS1, formerly|ESS1|ESS1 (formerly)|multiple self-healing squamous epithelioma, susceptibility to|multiple self-healing epithelioma of Ferguson-Smith|multiple self healing epithelioma of Ferguson-Smith|MSSE|Ferguson-Smith tumor|Ferguson-Smith type epithelioma|Ferguson-Smith disease|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|self-healing squamous epithelioma type 1|multiple keratoacanthoma, Ferguson-Smith type|Ferguson-Smith-type epithelioma|multiple self healing squamous epithelioma											UMLS:C0345982|ICD10:C44.6|Orphanet:65748|DOID:5585|NCIT:C4461|OMIM:132800|GARD:0003090|MESH:C536150|SCTID:254659009|ICD10:C44.7|ICD10:C44.3														https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma				owl:Class
MONDO:0005610	biolink:NamedThing	Kashin-Beck disease	Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.	mondoexuq1wtf												ICD9:716.00|UMLS:C2745963|ICD9:716.08|EFO:0006511|ICD9:716.06|MESH:D057767|SCTID:270505009																		owl:Class
MONDO:0009406	biolink:NamedThing	hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.	mondoexuq1wtf	hypertrichotic osteochondrodysplasia|hypertrichotic osteochondrodysplasia, Cantu type|Cantu syndrome|Craniofaciocardioskeletal syndrome											Orphanet:1517|SCTID:239087008|OMIM:239850|UMLS:C0795905|MESH:C535572|ICD10:Q87.3|GARD:0008585|DOID:0060569														https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome				owl:Class
MONDO:0006713	biolink:NamedThing	corneal neovascularization	New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.	mondoexuq1wtf												UMLS:C0085109|ICD9:370.6|EFO:1000880|DOID:11382|SCTID:19161004|ICD10:H16.40|ICD10:H16.4|COHD:375267|ICD9:370.60|MedDRA:10011031|MESH:D016510																		owl:Class
MONDO:0003374	biolink:NamedThing	laryngeal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the larynx|larynx leiomyosarcoma|laryngeal leiomyosarcoma|leiomyosarcoma of larynx											DOID:5288|NCIT:C6022|UMLS:C1334371																		owl:Class
MONDO:0010375	biolink:NamedThing	developmental and epileptic encephalopathy, 8		mondoexuq1wtf	hyperekplexia and epilepsy|hyperekplexia-epilepsy syndrome|DEE8|early infantile epileptic encephalopathy 8|EIEE8|epileptic encephalopathy, early infantile, 8|epileptic encephalopathy, early infantile, type 8											UMLS:C1845102|OMIM:300607|DOID:0080215|ICD10:G25.8|Orphanet:163985|MESH:C564474																		owl:Class
MONDO:0016160	biolink:NamedThing	X-linked intellectual disability-epilepsy syndrome		mondoexuq1wtf												Orphanet:2076|UMLS:CN226857																		owl:Class
MONDO:0017961	biolink:NamedThing	46,XX disorder of gonadal development		mondoexuq1wtf												Orphanet:325055|UMLS:CN227225																		owl:Class
MONDO:0009780	biolink:NamedThing	lethal omphalocele-cleft palate syndrome	Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.	mondoexuq1wtf	cleft palate-omphalocele syndrome, lethal|omphalocele cleft palate syndrome lethal|Czeizel syndrome|omphalocele-cleft palate syndrome, lethal											GARD:0004079|SCTID:719408007|Orphanet:2736|UMLS:C1850317|OMIM:258320|ICD10:Q87.8|MESH:C537747														https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal				owl:Class
MONDO:0011772	biolink:NamedThing	B4GALT1-CDG	B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	mondoexuq1wtf	CDG IId|carbohydrate deficient glycoprotein syndrome type IId|CDG-IId|CDG2D|CDG syndrome type IId|Beta-1,4-galactosyltransferase deficiency|B4GALT1-CDG (CDG-IId)|CDG 2D|congenital disorder of glycosylation type IId|congenital disorder of glycosylation type 2d|congenital disorder of glycosylation, type IId											MESH:C535753|GARD:0009841|OMIM:607091|ICD10:E77.8|Orphanet:79332|DOID:0070256|SCTID:725587007|UMLS:C2931009																		owl:Class
MONDO:0013877	biolink:NamedThing	mitochondrial pyruvate carrier deficiency	An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.	mondoexuq1wtf	mitochondrial pyruvate carrier deficiency|MPYCD											UMLS:C3553607|Orphanet:447784|DOID:0080363|ICD10:E74.4|OMIM:614741																		owl:Class
MONDO:0013066	biolink:NamedThing	46,XY sex reversal 3		mondoexuq1wtf	46,XY SEX reversal 3|46,XY Sex reversal, partial or complete, Nr5A1-related|46,XY sex reversal 3|46,XY Sex reversal type 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|SRXY3|disorder of Sex development, 46,XY, Nr5A1-related|Sex reversal, XY, with or without adrenal failure											DOID:0111772|OMIM:612965																		owl:Class
MONDO:0004013	biolink:NamedThing	adult vagina botryoid embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.	mondoexuq1wtf	adult botryoid-type embryonal rhabdomyosarcoma of the vagina|adult vagina botryoid rhabdomyosarcoma|adult sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults					Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma						DOID:6848|UMLS:C1515893|NCIT:C40267																		owl:Class
MONDO:0003994	biolink:NamedThing	botryoid-type embryonal rhabdomyosarcoma of the vagina	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	mondoexuq1wtf	botryoid rhabdomyosarcoma of vagina|sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina|vagina botryoid rhabdomyosarcoma											NCIT:C40268|UMLS:C1511275|DOID:6788																		owl:Class
MONDO:0009483	biolink:NamedThing	kapur-Toriello syndrome	Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	mondoexuq1wtf	long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|long columella with cleft lip/palate and eye, heart and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur-Toriello syndrome|kapur Toriello syndrome											Orphanet:2328|GARD:0003078|SCTID:722031003|OMIM:244300|ICD10:Q87.8|MESH:C537008|UMLS:C0796005														https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome				owl:Class
MONDO:0017018	biolink:NamedThing	isolated pulmonary capillaritis	Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.	mondoexuq1wtf												UMLS:C3873357|ICD9:448.9|Orphanet:264691|SCTID:707436001																		owl:Class
MONDO:0017017	biolink:NamedThing	primary interstitial lung disease specific to childhood due to alveolar vascular disorder		mondoexuq1wtf	primary ILD specific to childhood due to alveolar vascular disorder											UMLS:CN202329|Orphanet:264683																		owl:Class
MONDO:0009181	biolink:NamedThing	epidermolysis bullosa simplex with muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	mondoexuq1wtf	limb-girdle muscular dystrophy with epidermolysis bullosa simplex|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|Epidermolysa bullosa simplex with muscular dystrophy|MDEBS|Epidermolysa bullosa simplex and limb girdle muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|EBS-MD|EBSMD|epidermolysis bullosa simplex with muscular dystrophy|MD-EBS											GARD:0002137|ICD10:Q81.0|SCTID:723308003|OMIM:226670|UMLS:C2931072|Orphanet:257|MESH:C535955|DOID:0090017														https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy				owl:Class
MONDO:0001376	biolink:NamedThing	urinary bladder anterior wall cancer		mondoexuq1wtf	malignant neoplasm of anterior wall of urinary bladder											ICD10:C67.3|DOID:11814|UMLS:C0153611|ICD9:188.3|SCTID:188242006																		owl:Class
MONDO:0001187	biolink:NamedThing	urinary bladder cancer	A primary or metastatic malignant neoplasm involving the bladder.	mondoexuq1wtf	malignant bladder neoplasm|malignant neoplasm of the urinary bladder|malignant neoplasm, urinary bladder|malignant tumor of bladder|cancer of urinary bladder|malignant neoplasm, bladder|malignant urinary bladder tumor|malignant neoplasm of urinary bladder|malignant tumor of the urinary bladder|malignant neoplasm of the bladder|malignant neoplasm of bladder|malignant urinary bladder neoplasm|tumor of the bladder|urinary bladder malignant neoplasm|malignant tumor of urinary bladder|urinary bladder cancer|malignant tumor of the bladder|malignant tumor, urinary bladder|malignant bladder tumor|urinary bladder malignant tumor											ICD10:C67.9|UMLS:C0005684|ICD9:188.9|DOID:11054|SCTID:399326009|ICD9:188|ICD9:188.8|NCIT:C9334|OMIM:109800|ICD10:C67|KEGG:05219																		owl:Class
MONDO:0009760	biolink:NamedThing	Norman-Roberts syndrome	Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	mondoexuq1wtf	Microlissencephaly type A|lissencephaly syndrome, Norman-Roberts type|LIS2|lissencephaly type 2|Norman Roberts lissencephaly syndrome|lissencephaly syndrome Norman-Roberts type|lissencephaly 2|Norman-Roberts syndrome											Orphanet:89844|SCTID:717977003|GARD:0003277|UMLS:C0796089|OMIM:257320|ICD10:Q04.3|DOID:0060902																		owl:Class
MONDO:0011465	biolink:NamedThing	infundibulocystic basal cell carcinoma		mondoexuq1wtf	skin infundibulocystic basal cell carcinoma|basal cell carcinoma, infundibulocystic|basal cell carcinoma with follicular differentiation											OMIM:604451|NCIT:C27540|DOID:4279|MESH:C537655|UMLS:C1304297|GARD:0009788														https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic				owl:Class
MONDO:0032738	biolink:NamedThing	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy		mondoexuq1wtf	GDRM|GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY											OMIM:618419																		owl:Class
CL:0011001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017161	biolink:NamedThing	frontotemporal dementia with motor neuron disease	Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.	mondoexuq1wtf	frontotemporal dementia with ALS|FTD-MND|FTDALS|FTD-ALS|frontotemporal dementia with amyotrophic lateral sclerosis											UMLS:CN239493|OMIMPS:105550|Orphanet:275872|UMLS:C3888102																		owl:Class
MONDO:0012894	biolink:NamedThing	osteoarthritis susceptibility 6		mondoexuq1wtf	osteoarthritis of knee|OS6|osteoarthritis susceptibility 6											SCTID:239873007|UMLS:C0409959|ICD9:715.96|OMIM:612401																		owl:Class
MONDO:0010506	biolink:NamedThing	intellectual disability, X-linked 61	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.	mondoexuq1wtf	RLIM non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in RLIM|mental retardation, X-linked 61|MRX61|intellectual disability, X-linked type 61|intellectual disability, X-linked 61|mental retardation, X-linked type 61											UMLS:C4283894|OMIM:300978																		owl:Class
MONDO:0027772	biolink:NamedThing	lung colloid adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.	mondoexuq1wtf	lung mucinous cystadenocarcinoma|lung mucinous cystic tumor of borderline malignancy|mucinous lung adenocarcinoma|lung colloid adenocarcinoma											NCIT:C45512|DOID:0080304|UMLS:C1708776|DOID:0080303																		owl:Class
MONDO:0054559	biolink:NamedThing	congenital disorder of glycosylation, type IIq		mondoexuq1wtf	CDG2Q|CDG Iiq|COG2-CDG|COG2-related congenital disorder of glycosylation											UMLS:C4479353|OMIM:617395|DOID:0070269|Orphanet:435934|ICD10:E77.8																		owl:Class
MONDO:0011501	biolink:NamedThing	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	mondoexuq1wtf	cortical defects, WORMIAN bones, and dentinogenesis imperfecta|Suarez-Stickler syndrome|cortical defects wormian bones and dentinogenesis imperfecta											MESH:C565734|UMLS:C1858032|ICD10:Q78.8|Orphanet:166277|GARD:0010290|OMIM:604922														https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta				owl:Class
MONDO:0015877	biolink:NamedThing	malformative syndrome with dentinogenesis imperfecta		mondoexuq1wtf												UMLS:CN200485|Orphanet:180766																		owl:Class
MONDO:0045003	biolink:NamedThing	scrotal disease	A disease or disorder that involves the scrotum.	mondoexuq1wtf	disease of scrotum|scrotum disease or disorder|disorder of scrotum|scrotum disease|disease or disorder of scrotum											SCTID:49701002|UMLS:C0268919																		owl:Class
MONDO:0012173	biolink:NamedThing	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.	mondoexuq1wtf	3-hydroxyacyl-CoA dehydrogenase long chain deficiency|trifunctional protein deficiency type 1|LCHAD deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|LCHADD|long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency											OMIM:609016|Orphanet:5|SCTID:726021008|ICD10:E71.3|NCIT:C129929|UMLS:C3711645|GARD:0006867|UMLS:CN074230|UMLS:CN239369																		owl:Class
MONDO:0016328	biolink:NamedThing	fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy		mondoexuq1wtf												UMLS:CN226902|Orphanet:217591																		owl:Class
MONDO:0008606	biolink:NamedThing	Say-field-Coldwell syndrome	Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.	mondoexuq1wtf	triphalangeal thumbs-dislocation of patella syndrome|polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs and dislocation of patella											OMIM:190650|UMLS:C1860805|ICD10:Q74.8|Orphanet:3133|MESH:C536619|GARD:0000242														https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome				owl:Class
MONDO:0000338	biolink:NamedThing	variola major infectious disease		mondoexuq1wtf	variola major											SCTID:47452006|DOID:0050508|UMLS:C1812609|ICD9:050.0|COHD:134563																		owl:Class
MONDO:0007037	biolink:NamedThing	achondroplasia	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.	mondoexuq1wtf	osteosclerosis congenita|achondroplastic dwarfism|ach|chondrodystrophia|achondroplasia|achondroplastic physique											MedDRA:10000452|DOID:4480|UMLS:C0001080|MESH:D000130|GARD:0008173|SCTID:86268005|Orphanet:15|ICD10:Q77.4|OMIM:100800|COHD:4311402|NCIT:C34345														https://rarediseases.info.nih.gov/diseases/8173/achondroplasia				owl:Class
MONDO:0019979	biolink:NamedThing	renal hypoplasia, unilateral	Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.	mondoexuq1wtf												Orphanet:97361|ICD10:Q60.3																		owl:Class
MONDO:0019637	biolink:NamedThing	renal hypoplasia	Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.	mondoexuq1wtf	renal hypoplasia (disease)|renal hypoplasia		renal hypoplasia (disease)									HP:0000089|SCTID:32659003|ICD10:Q60.3|MedDRA:10049102|Orphanet:93101|ICD10:Q60.4|ICD10:Q60.5|DOID:0080204																		owl:Class
MONDO:0010017	biolink:NamedThing	sea-blue histiocyte syndrome	A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.	mondoexuq1wtf	sea-blue histiocytosis|histiocytosis, Sea-blue|inherited Lipemic splenomegaly|SEA-blue histiocyte disease											EFO:1001170|ICD10:D76.3|UMLS:C0036489|OMIM:269600|GARD:0008241|SCTID:37821003|DOID:4423|Orphanet:158029|MESH:D012618|NCIT:C85062																		owl:Class
MONDO:0020379	biolink:NamedThing	early-onset zonular cataract		mondoexuq1wtf												Orphanet:98995|GARD:0001898|UMLS:CN207251|ICD10:Q12.0														https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract				owl:Class
MONDO:0020377	biolink:NamedThing	early-onset partial cataract		mondoexuq1wtf												UMLS:CN207248|ICD10:Q12.0|Orphanet:98992																		owl:Class
MONDO:0020291	biolink:NamedThing	hypoplastic right heart syndrome	Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.	mondoexuq1wtf	right hypoplastic heart syndrome											NCIT:C99053|MedDRA:10050053|SCTID:268180007|UMLS:C0344963|DOID:0070315|ICD10:Q22.6|GARD:0002922|COHD:4145158|ICD9:746.89|Orphanet:98723|MedDRA:10064962														https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome				owl:Class
MONDO:0019820	biolink:NamedThing	univentricular cardiopathy		mondoexuq1wtf												Orphanet:95483																		owl:Class
MONDO:0013767	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 4	RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	mondoexuq1wtf	RAS-associated autoimmune leukoproliferative disorder|ALPS4|ALPS type IV|autoimmune lymphoproliferative syndrome caused by mutation in NRAS|autoimmune lymphoproliferative syndrome type IV|NRAS autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 4|autoimmune lymphoproliferative syndrome type 4|ALPS type 4|RAS-associated autoimmune leukoproliferative disease|RALD											UMLS:C2674723|Orphanet:268114|ICD10:D72.8|OMIM:614470|DOID:0110117|SCTID:723508002																		owl:Class
MONDO:0017979	biolink:NamedThing	autoimmune lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.	mondoexuq1wtf	autoimmune lymphoproliferative syndrome type 1, autosomal dominant|ALPS (autoimmune lymphoproliferative syndrome)|Canale-Smith syndrome|ALPS|FAS deficiency											MedDRA:10069521|ICD10:D47.9|NCIT:C37864|Orphanet:3261|ICD10:D89.82|CSP:1560-5548|GARD:0008686|DOID:6688|ICD9:279.41|UMLS:C1328840|MESH:D056735																		owl:Class
MONDO:0017269	biolink:NamedThing	X-linked ichthyosis syndrome	X-linked form of inherited ichthyosis syndromic form.	mondoexuq1wtf	inherited ichthyosis syndromic form, X-linked|X-linked inherited ichthyosis syndromic form					Editor note: check relationship to syndromic recessive X-linked ichthyosis						MedDRA:10048063|Orphanet:281210																		owl:Class
MONDO:0009247	biolink:NamedThing	frontofacionasal dysplasia	Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).	mondoexuq1wtf	Gollop syndrome|fronto-facio-nasal dysostosis|Frontofacionasal dysostosis|fronto-facio-nasal dyplasia|Ffnd|frontofacionasal dysplasia											UMLS:C2931720|SCTID:716022002|Orphanet:1791|MESH:C538063|OMIM:229400|GARD:0002390|ICD10:Q75.8														https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia				owl:Class
MONDO:0016643	biolink:NamedThing	frontonasal dysplasia	A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.	mondoexuq1wtf	FND1|median cleft syndrome|median cleft face syndrome|frontonasal dysplasia 1											ICD10:Q75.8|OMIMPS:136760|UMLS:C1876203|SCTID:86610004|Orphanet:250|DC:0000166|MESH:C538065|GARD:0002392																		owl:Class
MONDO:0013692	biolink:NamedThing	BAP1-related tumor predisposition syndrome	BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.	mondoexuq1wtf	TPDS|tumor susceptibility linked to germline BAP1 mutations|BAP1 tumor predisposition syndrome|tumor predisposition syndrome											SCTID:765057007|Orphanet:289539|GARD:0013219|UMLS:C3280492|OMIM:614327																		owl:Class
MONDO:0013224	biolink:NamedThing	rhabdoid tumor predisposition syndrome 2	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.	mondoexuq1wtf	familial rhabdoid tumor caused by mutation in SMARCA4|rhabdoid tumor predisposition syndrome 2|RTPS2|rhabdoid tumor predisposition syndrome type 2|SMARCA4 familial rhabdoid tumor											MESH:C567643|UMLS:C2750074|OMIM:613325																		owl:Class
MONDO:0013357	biolink:NamedThing	chromosome 17q11.2 deletion syndrome, 1.4Mb	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	mondoexuq1wtf	NF1 microdeletion syndrome|neurofibromatosis 1 microdeletion syndrome|Del(17)(q11)|neurofibromatosis type 1 microdeletion syndrome|chromosome 17q11.2 deletion syndrome, 1.4-MB|chromosome 17q11.2 deletion syndrome|NF1 microduplication syndrome|monosomy 17q11|17q11 microdeletion syndrome|Van Asperen syndrome											MESH:C563524|GARD:0005408|ICD10:Q85.0|OMIM:613675|Orphanet:97685|DOID:0060403																		owl:Class
MONDO:0016915	biolink:NamedThing	partial deletion of the long arm of chromosome 17		mondoexuq1wtf	partial deletion of the long arm of chromosome type 17|partial deletion of chromosome 17q|partial monosomy of the long arm of chromosome 17|partial monosomy of chromosome 17q											ICD10:Q93.5|Orphanet:262137																		owl:Class
MONDO:0011283	biolink:NamedThing	mitochondrial DNA depletion syndrome 1		mondoexuq1wtf	mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|myoneurogastrointestinal encephalopathy syndrome|Polip syndrome|mitochondrial DNA depletion syndrome type 1|mitochondrial DNA depletion syndrome 1 (MNGIE type)|Mngie, tymp-related|MTDPS1|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction											OMIM:603041|DOID:0080119																		owl:Class
MONDO:0013178	biolink:NamedThing	congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.	mondoexuq1wtf	congenital muscular dystrophy LMNA-related|MDCL|muscular dystrophy Congenital, LMNA-related|L-CMD|LMNA-related congenital muscular dystrophy|congenital muscular dystrophy caused by mutation in LMNA|LMNA congenital muscular dystrophy|muscular dystrophy, congenital, LMNA-related											Orphanet:157973|DOID:0110640|MESH:C567708|OMIM:613205|GARD:0012585|UMLS:C2750785|ICD10:G71.2|NCIT:C148369														https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation				owl:Class
MONDO:0003034	biolink:NamedThing	mediastinum angiosarcoma	A malignant vascular neoplasm arising from the mediastinum.	mondoexuq1wtf	angiosarcoma of mediastinum|mediastinum angiosarcoma (disease)|mediastinal angiosarcoma|angiosarcoma (disease) of mediastinum|hemangiosarcoma of the mediastinum|mediastinal hemangiosarcoma|angiosarcoma of the mediastinum|hemangiosarcoma of mediastinum											UMLS:C1334649|NCIT:C6613|DOID:4525																		owl:Class
MONDO:0016426	biolink:NamedThing	fusariosis	Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.	mondoexuq1wtf	Fusarium infectious disease|Fusarium caused disease or disorder|Fusarium disease or disorder|Fusarium infection											EFO:1001795|DOID:0050289|Orphanet:228119|ICD10:B48.7|MESH:D060585|MedDRA:10051919|SCTID:64250002																		owl:Class
MONDO:0020502	biolink:NamedThing	yellow fever	Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.	mondoexuq1wtf	urban yellow fever|bronze John|Yellow fever virus caused disease or disorder|Yellow fever virus infectious disease|YF|Yellow fever virus disease or disorder|Yellow fever Virus infection|jungle yellow fever|Yellow fever, sylvan|sylvatic yellow fever|Yellow Jack											ICD10:A95.1|UMLS:C0043398|ICD9:060|ICD10:A95.0|ICD10:A95.9|DOID:9682|MedDRA:10048240|UMLS:C0043395|Orphanet:99829|ICD10:A95|ICD9:060.9|MESH:D015004|UMLS:C0043397|NCIT:C35547|GARD:0007914														https://rarediseases.info.nih.gov/diseases/7914/yellow-fever				owl:Class
MONDO:0017509	biolink:NamedThing	adactyly of foot, unilateral		mondoexuq1wtf	congenital absence of toes, unilateral											ICD10:Q72.8|Orphanet:295116																		owl:Class
MONDO:0018563	biolink:NamedThing	adactyly of foot		mondoexuq1wtf	congenital absence of toes											ICD10:Q72.8|SCTID:66345008|Orphanet:435623																		owl:Class
MONDO:0015742	biolink:NamedThing	periventricular leukomalacia	Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.	mondoexuq1wtf	PVL											MedDRA:10052594|COHD:372435|NCIT:C99013|EFO:1001101|GARD:0010285|ICD10:P91.2|Orphanet:171676|DOID:13088|MESH:D007969|UMLS:C0023529|SCTID:230769007|ICD9:742.8|ICD9:779.7														https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia				owl:Class
MONDO:0006741	biolink:NamedThing	encephalomalacia	Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.	mondoexuq1wtf												NCIT:C98920|DOID:2034|MedDRA:10051818|UMLS:C0014068|MESH:D004678|EFO:1000915|SCTID:58762006																		owl:Class
MONDO:0000902	biolink:NamedThing	agenesis of the corpus callosum with peripheral neuropathy	Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.	mondoexuq1wtf	polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|HMSN/ACC|corpus callosum agenesis neuronopathy|corpus callosum, agenesis of, with neuronopathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|agenesis of corpus callosum with peripheral neuropathy|corpus callosum agenesis-neuronopathy syndrome|agenesis of corpus callosum with neuronopathy|ACCPN|Andermann syndrome|agenesis of corpus callosum with polyneuropathy|agenesis of the corpus callosum with peripheral neuropathy|peripheral neuropathy associated with agenesis of the corpus callosum|Charlevoix disease											Orphanet:1496|DOID:0060600|DOID:0090003|SCTID:702439002|ICD10:G60.0|OMIM:218000|UMLS:C0795950|MESH:C536446|GARD:0001537																		owl:Class
MONDO:0002236	biolink:NamedThing	ocular cancer	A benign or malignant neoplasm affecting the structures of the eye.	mondoexuq1wtf	malignant ocular tumor|malignant neoplasm of eye|ocular tumor|neoplasm of eye|malignant eye neoplasm|cancer of eyeball of camera-type eye|malignant neoplasm of the eye|malignant tumor of eye|malignant eyeball of camera-type eye neoplasm|neoplasm of eye proper|malignant neoplasm of eyeball of camera-type eye|eye neoplasm, malignant|cancer of the eye|eye neoplasm|malignant ocular neoplasm|malignant eye tumor|eyeball of camera-type eye cancer|malignant tumor of the eye|eye cancer|cancer of eye					Editor note: check to see whether structure is eye or eye + adnexa						ICD9:239.89|MESH:D005134|NCIT:C4767|ICD9:190.8|DOID:2174|SCTID:371486001																		owl:Class
MONDO:0006442	biolink:NamedThing	tendon sheath fibroma	A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.	mondoexuq1wtf	fibroma of tendon sheath|fibroma of the tendon sheath|tendon sheath fibroma											EFO:1000561|UMLS:C1275236|ICD9:215.9|SCTID:403992002|NCIT:C6485																		owl:Class
MONDO:0005167	biolink:NamedThing	fibroma	A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.	mondoexuq1wtf	fibroma, benign|fibroma											DOID:0050871|ICDO:8810/0|ICD9:215.9|NCIT:C3041|SCTID:424568000|MESH:D005350|EFO:0002424																		owl:Class
MONDO:0032635	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 32		mondoexuq1wtf	MC1DN32|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32											OMIM:618252																		owl:Class
MONDO:0013894	biolink:NamedThing	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome		mondoexuq1wtf	soft syndrome|soft|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis											OMIM:614813|Orphanet:314394|ICD10:Q87.1|UMLS:C3542022																		owl:Class
MONDO:0005981	biolink:NamedThing	tick paralysis	Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.	mondoexuq1wtf												GARD:0007771|MESH:D013985|EFO:0007509|UMLS:C0040197|DOID:11285|SCTID:74225001														https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis				owl:Class
MONDO:0020010	biolink:NamedThing	infectious disease of the nervous system	A infectious disease that involves the nervous system.	mondoexuq1wtf	nervous system infectious disease|nervous system infectious disorder											UMLS:C0597039|Orphanet:98010|NCIT:C27590|SCTID:128116006|ICD9:349.89																		owl:Class
MONDO:0043707	biolink:NamedThing	mediastinal disease	A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.	mondoexuq1wtf	disease, mediastinal|mediastinal disorder|mediastinal disease|disorder of mediastinum|mediastinum disease|diseases, mediastinal|disease or disorder of mediastinum|disease of mediastinum|mediastinum disease or disorder											SCTID:49483002|NCIT:C26826|UMLS:C0025061|MESH:D008477																		owl:Class
MONDO:0006661	biolink:NamedThing	ascorbic acid deficiency	A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)	mondoexuq1wtf												MedDRA:10047623|ICD9:267|EFO:1000822|ICD10:E54|MESH:D001206|SCTID:76169001|COHD:439787																		owl:Class
MONDO:0037792	biolink:NamedThing	carbohydrate metabolism disease	A disease that has its basis in the disruption of carbohydrate metabolic process.	mondoexuq1wtf	carbohydrate metabolic process disease|disorder of carbohydrate metabolic process|disorder of carbohydrate metabolism											SCTID:20957000																		owl:Class
MONDO:0014680	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 7	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene.	mondoexuq1wtf	herpes simplex encephalitis, susceptibility to, 7|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7|herpes simplex encephalitis caused by mutation in IRF3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, 5|IRF3 herpes simplex encephalitis|Herpes simplex encephalitis, susceptibility to, type 7|encephalopathy, acute, infection-induced, susceptibility to, 7|IIAE7											OMIM:616532																		owl:Class
MONDO:0008735	biolink:NamedThing	adrenocortical unresponsiveness to ACTH with postreceptor defect		mondoexuq1wtf	familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect											UMLS:C1859971|OMIM:202355|MESH:C565971																		owl:Class
MONDO:0005006	biolink:NamedThing	clear cell sarcoma of kidney	A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.	mondoexuq1wtf	clear cell sarcoma of kidney|CCSK|pediatric renal clear cell sarcoma|childhood clear cell sarcoma of the kidney|pediatric kidney clear cell sarcoma|kidney clear cell sarcoma|childhood kidney clear cell sarcoma|renal clear cell sarcoma|clear cell sarcoma of the kidney|clear cell sarcoma - kidney|childhood renal clear cell sarcoma											ICDO:8964/3|UMLS:CN242113|ICD10:C64|NCIT:C4264|UMLS:C0334488|ONCOTREE:CCSK|EFO:0000350|Orphanet:457246|DOID:4880																		owl:Class
MONDO:0002930	biolink:NamedThing	kidney sarcoma	A sarcoma involving a kidney.	mondoexuq1wtf	renal sarcoma|sarcoma of the kidney|sarcoma of kidney|kidney sarcoma											UMLS:C0346251|NCIT:C4525|SCTID:254918001|DOID:4242|ICD9:189.0																		owl:Class
MONDO:0019526	biolink:NamedThing	erythema elevatum diutinum	Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.	mondoexuq1wtf												UMLS:C0263398|SCTID:58872001|MESH:C535509|GARD:0008653|ICD10:L95.1|MedDRA:10056968|ICD9:695.89|Orphanet:90000|DOID:0060567														https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum				owl:Class
MONDO:0019207	biolink:NamedThing	DEND syndrome	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	mondoexuq1wtf	K ATP associated developmental delay, epilepsy and neonatal diabetes|developmental delay-epilepsy-neonatal diabetes syndrome											ICD10:P70.2|UMLS:C4303593|NCIT:C131845|UMLS:C1853564|Orphanet:79134|SCTID:721088003																		owl:Class
MONDO:0003125	biolink:NamedThing	testicular sex cord-stromal neoplasm	A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.	mondoexuq1wtf	sex cord-stromal tumor of testis|sex cord-stromal neoplasm|sex cord-stromal neoplasm of testis|sex cord-stromal neoplasm of the testis|testis sex cord-stromal tumor|sex cord-stromal tumor of the testis|testicular sex cord-stromal neoplasm|testicular sex cord-stromal tumor											Orphanet:363489|SCTID:702406000|ICD10:C62.1|UMLS:C3840076|DOID:4757|UMLS:CN204701|NCIT:C6358																		owl:Class
MONDO:0021348	biolink:NamedThing	neoplasm of testis	A neoplasm (disease) that involves the testis.	mondoexuq1wtf	neoplasm of the testis|testis neoplasm|tumor of testis|testis tumor|testicular neoplasm|testicular tumor|testis neoplasm (disease)|tumor of the testis|neoplasm of testis											ONCOTREE:TESTIS|ICD9:239.5|NCIT:C3404|EFO:0004281|SCTID:126900000																		owl:Class
MONDO:0012850	biolink:NamedThing	hypophosphatemic nephrolithiasis/osteoporosis 1		mondoexuq1wtf	NPHLOP1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1|nephrolithiasis/osteoporosis, hypophosphatemic, type 1											OMIM:612286|UMLS:C2676786|MESH:C567363|DOID:0080077																		owl:Class
MONDO:0001343	biolink:NamedThing	impaired renal function disease	Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.	mondoexuq1wtf	kidney disease|disease of kidney											ICD9:588.9|DOID:11705|ICD10:N25|ICD9:588.8|SCTID:197663003|ICD9:588.89																		owl:Class
MONDO:0016354	biolink:NamedThing	xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).	mondoexuq1wtf	XP/CS complex											ICD10:Q82.1|ICD10:Q87.1|UMLS:CN201205|Orphanet:220295																		owl:Class
MONDO:0003783	biolink:NamedThing	lymphopenia	Reduction in the number of lymphocytes.	mondoexuq1wtf	lymphopenia (disease)|lymphocytopenia|lymphopenia		lymphopenia (disease)									ICD9:288.8|SCTID:48813009|MESH:D008231|ICD9:288.51|HP:0001888|COHD:441541|ICD10:D72.810|DOID:614|UMLS:C0024312																		owl:Class
MONDO:0003785	biolink:NamedThing	leukopenia	A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.	mondoexuq1wtf	White blood cell decreased|leukocytopenia|leucopenia											ICD10:D72.819|EFO:0004233|COHD:435224|SCTID:84828003|NCIT:C26816|DOID:615|ICD9:288.50|UMLS:C0023530|MESH:D007970																		owl:Class
MONDO:0000333	biolink:NamedThing	early congenital syphilis	A congenital syphilis that is manifested between 0 and 2 years old.	mondoexuq1wtf	Early congenital syphilis (less than 2 years)											COHD:436632|DOID:0050488|UMLS:C0275859|ICD9:090.2|SCTID:4359001																		owl:Class
MONDO:0005714	biolink:NamedThing	congenital syphilis	A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.	mondoexuq1wtf	congenital syphilis|mother-to-child transmission of syphilis|MTCT of syphilis											Orphanet:499009|ICD9:090|MESH:D013590|ICD10:A50.9|NCIT:C84649|EFO:0007219|ICD10:A50|COHD:434279|DOID:9856|UMLS:C0039131|ICD9:090.9|SCTID:35742006																		owl:Class
MONDO:0008816	biolink:NamedThing	Chiari malformation type II	Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.	mondoexuq1wtf	Cm2|Chiari type II malformation|Arnold-Chiari malformation type II|Arnold-Chiari malformation type 2|Arnold-Chiari malformation|Arnold Chiari malformation type II|Chiari malformation type 2|Chiari malformation type II											SCTID:373587001|ICD10:Q07.0|Orphanet:1136|GARD:0009232|OMIM:207950|MedDRA:10056945																		owl:Class
MONDO:0000115	biolink:NamedThing	Chiari malformation	A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.	mondoexuq1wtf	Chiari malformation|Arnold-Chiari malformation|(Arnold) Chiari malformation					Nomenclature of OMIM 118420 includes 207950 as another type.						NCIT:C84570|SCTID:253184003|DC:0000492|MESH:D001139																		owl:Class
MONDO:0001133	biolink:NamedThing	malignant essential hypertension	Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.	mondoexuq1wtf	accelerated essential hypertension|malignant essential hypertension											SCTID:78975002|UMLS:C0024588|ICD9:401.0|DOID:10823|COHD:317898																		owl:Class
MONDO:0019353	biolink:NamedThing	Stargardt disease	Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.	mondoexuq1wtf	fundus flavimaculatus|Stargardt macular dystrophy|juvenile onset macular degeneration|Stargardt disease 1|Stargardt 1											GARD:0000181|UMLS:C1855465|UMLS:C0271093|MedDRA:10062766|SCTID:47673003|Orphanet:827|ICD10:H35.5|DOID:0050817|NCIT:C85078														https://rarediseases.info.nih.gov/diseases/181/stargardt-disease				owl:Class
MONDO:0013131	biolink:NamedThing	polycystic kidney disease 2	Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.	mondoexuq1wtf	polycystic kidney disease type 2|polycystic kidney disease, adult, type II|APKD2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease 2|polycystic kidney disease, adult, type 2|PKD2|Autosomal dominant polycystic kidney disease type 2|polycystic kidney disease 2 with or without polycystic liver disease|autosomal dominant polycystic kidney disease caused by mutation in PKD2											UMLS:C2751306|SCTID:253879006|OMIM:613095|NCIT:C123166|DOID:0110859																		owl:Class
MONDO:0004691	biolink:NamedThing	autosomal dominant polycystic kidney disease	Autosomal dominant form of polycystic kidney disease.	mondoexuq1wtf	ADPKD|polycystic kidney disease, autosomal dominant|congenital biliary ectasias											Orphanet:730|UMLS:C0085413|ICD9:753.13|MESH:D016891|UMLS:CN119611|GARD:0010413|DOID:898|ICD9:753.12|ICD10:Q61.3|EFO:1001496|NCIT:C84578|SCTID:765330003																		owl:Class
MONDO:0002114	biolink:NamedThing	pancreas lymphoma	A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.	mondoexuq1wtf	lymphoma of pancreas|lymphoma of the pancreas|pancreatic lymphoma|pancreas lymphoma											DOID:1792|UMLS:C1335307|NCIT:C5714																		owl:Class
MONDO:0009831	biolink:NamedThing	malignant pancreatic neoplasm	A malignant neoplasm involving the pancreas.	mondoexuq1wtf	malignant neoplasm of the pancreas|Ca tail of pancreas|Ca body of pancreas|Ca head of pancreas|malignant pancreatic neoplasm|malignant neoplasm of tail of pancreas|malignant pancreas neoplasm|pancreas cancer|malignant neoplasm of body of pancreas|cancer of pancreas|pancreas neoplasm|malignant neoplasm of head of pancreas|pancreatic cancer|malignant neoplasm of pancreas											KEGG:05212|ICD9:157.8|ICD9:157.2|EFO:1000359|DOID:1793|ICD10:C25.9|ICD9:157.0|ICD9:157.1|NCIT:C9005																		owl:Class
MONDO:0006605	biolink:NamedThing	scalp dermatosis	Dermotosis of scalp	mondoexuq1wtf	dermatosis of scalp											MESH:D012536|EFO:1000761|SCTID:402694007|DOID:3136|UMLS:C0036271																		owl:Class
MONDO:0007764	biolink:NamedThing	autosomal dominant osteosclerosis, Worth type	Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.	mondoexuq1wtf	osteosclerosis, autosomal dominant|Ostéosclérose autosomique dominante type Worth|osteosclerosis, autosomal dominant, Worth type|Worth syndrome|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, autosomal dominant|endosteal hyperostosis, Worth type											OMIM:144750|GARD:0000390|Orphanet:2790|ICD10:Q78.2																		owl:Class
MONDO:0010713	biolink:NamedThing	properdin deficiency, X-linked	Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.	mondoexuq1wtf	PFD|properdin deficiency, type 2|properdin P Factor deficiency|properdin deficiency, type 3|complement Factor properdin deficiency|CFPD|properdin deficiency, type 1|properdin deficiency, X-linked											SCTID:81166004|Orphanet:2966|ICD10:D84.1|GARD:0009913|OMIM:312060|ICD9:279.8|GARD:0004513|DOID:0111768|MESH:C537241																		owl:Class
MONDO:0018727	biolink:NamedThing	immunodeficiency due to a complement regulatory deficiency		mondoexuq1wtf												Orphanet:459348																		owl:Class
MONDO:0020347	biolink:NamedThing	acute inflammatory demyelinating polyradiculoneuropathy	An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).	mondoexuq1wtf	Guillain-BarrC) syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|acute idiopathic demyelinating polyneuropathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|acute inflammatory demyelinating polyradiculopathy|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute inflammatory polyneuropathy					Editor note: check this						NCIT:C116926|Orphanet:98916|ICD10:G61.0|UMLS:CN207194														https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830				owl:Class
MONDO:0019286	biolink:NamedThing	sebaceous gland anomaly	A epidermal appendage anomaly that involves the sebaceous gland.	mondoexuq1wtf	sebaceous gland epidermal appendage anomaly|epidermal appendage anomaly of sebaceous gland											Orphanet:79372																		owl:Class
MONDO:0019277	biolink:NamedThing	epidermal appendage anomaly		mondoexuq1wtf												Orphanet:79362																		owl:Class
MONDO:0011462	biolink:NamedThing	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	mondoexuq1wtf	Papas|papa syndrome|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|fra|familial recurrent arthritis|papa|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|pyogenic arthritis, pyoderma gangrenosum and acne											MESH:C536253|NCIT:C119055|Orphanet:69126|DOID:0080519|SCTID:724015007|OMIM:604416|UMLS:C1858361|GARD:0009176																		owl:Class
MONDO:0015054	biolink:NamedThing	hereditary angioedema type 2	Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	HAE-II|hereditary angioneurotic edema type 2|HAE 2											Orphanet:100051|UMLS:C1862892|ICD10:D84.1																		owl:Class
MONDO:0033946	biolink:NamedThing	hereditary angioedema with C1Inh deficiency	Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.	mondoexuq1wtf	angioneurotic edema, hereditary|angioedema, hereditary, type 1|angioedema, hereditary, type I|HAE1|angioedema, hereditary, type 1/2|C1 esterase inhibitor, deficiency of|angioedema, hereditary, type 2											OMIM:106100|Orphanet:528623																		owl:Class
MONDO:0012197	biolink:NamedThing	idiopathic aplastic anemia	Aplastic anemia without a known cause.	mondoexuq1wtf	idiopathic aplastic aplasia|aplastic anemia idiopathic|idiopathic bone marrow failure|secondary aplastic anemia|anemia aplastic|aplastic anemia|aplastic Anemia, susceptibility to											ICD10:D61.0|GARD:0005836|Orphanet:88|MESH:C538494|UMLS:C0348890|ICD10:D61.3|NCIT:C61230|SCTID:191256002|OMIM:609135																		owl:Class
MONDO:0015610	biolink:NamedThing	acquired aplastic anemia	An instance of aplastic anemia that is acquired during the lifetime of the individual.	mondoexuq1wtf	rare acquired aplastic anemia|acquired aplastic anemia											SCTID:55907008|UMLS:C0271907|Orphanet:164823|ICD10:D61.1|EFO:0006926|ICD10:D61.2																		owl:Class
MONDO:0003186	biolink:NamedThing	esophageal adenoid cystic carcinoma	An infrequent esophageal carcinoma arising from esophageal glands. (WHO)	mondoexuq1wtf	esophageal adenoid cystic carcinoma|esophagus adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus|adenoid cystic carcinoma of the esophagus|esophageal adenoid cystic cancer|adenoid cystic esophagus carcinoma|adenoid cystic carcinoma of esophagus											DOID:4878|NCIT:C5342|UMLS:C1333441																		owl:Class
MONDO:0005028	biolink:NamedThing	esophageal adenocarcinoma	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.	mondoexuq1wtf	adenocarcinoma of esophagus|oesophageal adenocarcinoma|esophageal adenocarcinoma|adenocarcinoma - esophagus|esophagus adenocarcinoma|adenocarcinoma of the esophagus											NCIT:C4025|ONCOTREE:ESCA|UMLS:C0279628|EFO:0000478|DOID:4914|Orphanet:99976|ICD10:C15.2|ICD10:C15.5|SCTID:276803003																		owl:Class
MONDO:0100321	biolink:NamedThing	viral disease or post-viral disorder	A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself.	mondoexuq1wtf	viral infectious disease or sequela							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0100336	biolink:NamedThing	infectious disease or post-infectious disorder	A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself.	mondoexuq1wtf	infectious disease or sequela							https://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0007292	biolink:NamedThing	celiac artery stenosis from compression by median arcuate ligament of diaphragm		mondoexuq1wtf	celiac artery stenosis from compression by median arcuate ligament of diaphragm											MESH:C566151|OMIM:116870|UMLS:C1861783																		owl:Class
MONDO:0007793	biolink:NamedThing	hypochondroplasia	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.	mondoexuq1wtf	HCH|hypochondroplasia											Orphanet:429|SCTID:205468002|MESH:C562937|ICD9:756.9|MedDRA:10020967|UMLS:C0410529|GARD:0006724|DOID:0080041|OMIM:146000|ICD10:Q77.4|NCIT:C118697														https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia				owl:Class
MONDO:0002301	biolink:NamedThing	frontal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	mondoexuq1wtf	squamous cell carcinoma of frontal sinus|epidermoid carcinoma of the frontal sinus|frontal sinus squamous cell carcinoma|frontal sinus epidermoid carcinoma|epidermoid carcinoma of frontal sinus|squamous cell carcinoma of the frontal sinus											UMLS:C1333646|DOID:2441|SCTID:707356001|NCIT:C6067																		owl:Class
MONDO:0001756	biolink:NamedThing	frontal sinus cancer	A malignant neoplasm involving the frontal sinus.	mondoexuq1wtf	malignant frontal sinus neoplasm|malignant tumor of the frontal sinus|frontal sinus cancer|malignant neoplasm of the frontal sinus|cancer of frontal sinus|malignant tumor of frontal sinus|malignant neoplasm of frontal sinus|malignant frontal sinus tumor											DOID:1360|ICD10:C31.2|ICD9:160.4|NCIT:C3542|SCTID:363427000|UMLS:C0153478																		owl:Class
MONDO:0007635	biolink:NamedThing	Frasier syndrome	Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.	mondoexuq1wtf	Frasier syndrome											ICD10:N04.1|MESH:D052159|UMLS:C0950122|GARD:0002375|Orphanet:347|SCTID:445431000|OMIM:136680|ICD9:759.89|DOID:0050438|NCIT:C122805														https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome				owl:Class
MONDO:0014570	biolink:NamedThing	lethal congenital contracture syndrome 8	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.	mondoexuq1wtf	LCCS8|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome type 8|lethal congenital contracture syndrome caused by mutation in ADCY6|ADCY6 lethal congenital contracture syndrome											UMLS:C4225385|OMIM:616287																		owl:Class
MONDO:0017436	biolink:NamedThing	lethal congenital contracture syndrome	A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.	mondoexuq1wtf	LCCS											DOID:0060558|OMIMPS:253310|Orphanet:294965|GARD:0012643|UMLS:CN239241|ICD10:Q68.8																		owl:Class
MONDO:0014144	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2S	Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.	mondoexuq1wtf	TRAPPC11 autosomal recessive limb-girdle muscular dystrophy|LGMD2S|muscular dystrophy, limb-girdle, type 2S|limb-girdle muscular dystrophy type 2S|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11											GARD:0012543|UMLS:C3809236|OMIM:615356|Orphanet:369840|ICD10:G71.0|DOID:0110287																		owl:Class
MONDO:0002383	biolink:NamedThing	Pacinian tumor	A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.	mondoexuq1wtf	Pacinian tumor (morphologic abnormality)|Pacinian neurofibroma											NCIT:C4328|ICD9:215.9|ICDO:9507/0|UMLS:C0334599|DOID:2669|SCTID:404033003																		owl:Class
MONDO:0011578	biolink:NamedThing	familial papillary thyroid carcinoma with renal papillary neoplasia	Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).	mondoexuq1wtf	Ptcprn|Prn1|ptc-RCC|thyroid carcinoma, papillary, with papillary renal neoplasia					Editor note: check MONDO:0000201 thyroid cancer, nonmedullary						ICD10:C73|UMLS:C1854104|SCTID:717734005|ICD10:C64|OMIM:605642|MESH:C565310|Orphanet:97290																		owl:Class
MONDO:0005206	biolink:NamedThing	renal carcinoma	A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.	mondoexuq1wtf	kidney carcinoma|kidney cancer|kidney (renal) cancer|renal cancer|carcinoma of kidney|kidney (including renal cell) cancer|renal carcinoma											DOID:4451|NCIT:C9384|EFO:0002890|UMLS:C1378703																		owl:Class
MONDO:0031421	biolink:NamedThing	Olmsted syndrome		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:614594																		owl:Class
MONDO:0011366	biolink:NamedThing	ovarian germ cell tumor	A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.	mondoexuq1wtf	germ cell tumor of the ovary|germ cell neoplasm of the ovary|germ cell tumor of ovary|ovarian germ cell cancer|germ cell neoplasm of ovary|ovary germ cell tumor|ovarian germ cell neoplasm|ovarian germ cell tumor					Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor'						UMLS:C0238324|ICD9:239.5|EFO:1000419|DOID:2156|ONCOTREE:OGCT|NCIT:C3873|GARD:0009330|OMIM:603737|SCTID:237059008																		owl:Class
MONDO:0005040	biolink:NamedThing	germ cell tumor	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	mondoexuq1wtf	tumor of the germ cell|germ cell cancer|germ cells tumors|germ cell tumour|neoplasm of the germ cell|tumor of germ cell|neoplasm of germ cell|germ cell tumor|germ cell neoplasm											DOID:2994|GARD:0013022|NCIT:C3708|EFO:0000514|UMLS:C0205851																		owl:Class
MONDO:0021879	biolink:NamedThing	small cell variant anaplastic large cell lymphoma	A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.	mondoexuq1wtf	small cell variant anaplastic large cell lymphoma|anaplastic small cell lymphoma|small cell variant of anaplastic large cell lymphoma											GARD:0009477|UMLS:C1335983|NCIT:C7208|MESH:C538255														https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma				owl:Class
MONDO:0020325	biolink:NamedThing	anaplastic large cell lymphoma	Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.	mondoexuq1wtf	CD30 Positive anaplastic large cell lymphoma|Ki-1+ ALCL|sACL|CD30 positive anaplastic large cell lymphoma|Ki-1+ anaplastic large cell lymphoma|primary systemic ALCL|ALCL|Ki-1 positive anaplastic large cell lymphoma|anaplastic large cell lymphoma|Ki-1 lymphoma											ICD10:C84.6|NCIT:C3720|Orphanet:98841|ICDO:9714/3|MESH:D017728|HGNC:427|ICD10:C84.7|GARD:0003112|EFO:0003032|SCTID:277637000|ONCOTREE:ALCL|UMLS:C0206180|COHD:441235|ICD9:200.60|ICD9:200.6|DOID:0050744														https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma				owl:Class
MONDO:0005506	biolink:NamedThing	eccrine sweat gland cancer	An cancer with eccrine differentiation arising from the sweat glands.B	mondoexuq1wtf	malignant eccrine neoplasm of skin|malignant neoplasm of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor|eccrine sweat gland cancer|malignant eccrine neoplasm of the skin|malignant eccrine tumor of skin|cancer of eccrine sweat gland|malignant eccrine skin tumor|malignant eccrine neoplasm|malignant eccrine tumor of the skin|malignant eccrine skin neoplasm											EFO:0005553|UMLS:C1334577|NCIT:C5559|DOID:4921																		owl:Class
MONDO:0002206	biolink:NamedThing	sweat gland cancer	A malignant neoplasm that affects the sweat glands.	mondoexuq1wtf	sweat gland cancer|malignant neoplasm of the sweat gland|malignant neoplasm of sweat gland|sweat gland neoplasms, malignant|malignant tumor of sweat gland|malignant tumor of the sweat gland|malignant sweat gland neoplasm|cancer of sweat gland											DOID:2095|UMLS:C1321904|NCIT:C4810|ICD10:C44																		owl:Class
MONDO:0013840	biolink:NamedThing	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	mondoexuq1wtf	coenzyme Q10 deficiency, primary, 5|COQ10D5|coenzyme Q10 deficiency, primary, type 5											Orphanet:319678|UMLS:C3553374|OMIM:614654|DOID:0070242|ICD10:E88.8																		owl:Class
MONDO:0000288	biolink:NamedThing	polycystic echinococcosis		mondoexuq1wtf	human polycystic hydatid disease|neotropical echinococcosis											DOID:0050218																		owl:Class
MONDO:0005738	biolink:NamedThing	echinococcosis	A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.	mondoexuq1wtf	hydatidosis|echinococciasis|echinococcus disease|Echinococcus infectious disease|hydatid disease|Echinococcus disease or disorder|hepatic echinococcosis|echinococcosis|echinococcal disease|echinococcosis, unspecified, of liver|Echinococcus caused disease or disorder|liver echinococcus|echinococcosis of liver|pulmonary echinococcosis											ICD10:B67.90|ICD10:B67|EFO:0007245|SCTID:74942003|MESH:D004443|DOID:1496|ICD9:122|NCIT:C84682|UMLS:C0013502|ICD9:122.9|COHD:440043																		owl:Class
CL:0000946	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003886	biolink:NamedThing	mucinous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	mondoexuq1wtf	mucinous cystadenofibroma											DOID:6468|NCIT:C8979|UMLS:C1377844																		owl:Class
MONDO:0002398	biolink:NamedThing	mucinous adenofibroma	A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.	mondoexuq1wtf	mucinous adenofibroma											ICDO:9015/0|NCIT:C8978|UMLS:C0334499|DOID:2700																		owl:Class
MONDO:0009030	biolink:NamedThing	cranial nerves, recurrent paresis of		mondoexuq1wtf	cranial nerves, recurrent paresis of											MESH:C565672|OMIM:218200|UMLS:C1857530																		owl:Class
MONDO:0024493	biolink:NamedThing	tumor grade 3, general grading system	A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.	mondoexuq1wtf	high grade|poorly differentiated|grade 3|G3|grade III											NCIT:C28079|UMLS:C0475271																		owl:Class
MONDO:0024496	biolink:NamedThing	tumor grade 2 or 3, general grading system	A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated.	mondoexuq1wtf	grade 2/3											NCIT:C94678																		owl:Class
MONDO:0020499	biolink:NamedThing	Nipah virus disease	Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.	mondoexuq1wtf	Nipah virus infectious disease|Nipah encephalitis|Nipah fever											UMLS:CN207389|DOID:0050192|Orphanet:99825|ICD10:A98.8																		owl:Class
MONDO:0005785	biolink:NamedThing	henipavirus infectious disease	Infections with viruses of the genus henipavirus, family paramyxoviridae.	mondoexuq1wtf	Henipavirus caused disease or disorder|Henipavirus disease or disorder|Henipavirus infectious disease											MESH:D045464|EFO:0007300																		owl:Class
MONDO:0019230	biolink:NamedThing	inborn disorder of ornithine or proline metabolism		mondoexuq1wtf	disorder of ornithine or proline metabolism											UMLS:CN227595|Orphanet:79185																		owl:Class
MONDO:0019189	biolink:NamedThing	inborn disorder of amino acid and other organic acid metabolism		mondoexuq1wtf	disorder of amino acid and other organic acid metabolism|disorder of amino acid and organic acid metabolism											Orphanet:79062|ICD9:270.8|SCTID:237911005|UMLS:C0342666																		owl:Class
MONDO:0015461	biolink:NamedThing	short rib-polydactyly syndrome	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).	mondoexuq1wtf												ICD9:756.3|MESH:D012779|ICD10:Q77.2|Orphanet:1505|NCIT:C85065|UMLS:C0036996|SCTID:205484001																		owl:Class
MONDO:0020830	biolink:NamedThing	diaphragmitis		mondoexuq1wtf	diaphragmitis|diaphragmatitis											UMLS:C0011985|SCTID:73160007|EFO:0000937																		owl:Class
MONDO:0005728	biolink:NamedThing	diaphragm disease	A disease involving the diaphragm.	mondoexuq1wtf	disorder of diaphragm|disease of diaphragm|disease or disorder of diaphragm|diaphragm disease|diaphragmatic disease|diaphragm disease or disorder|diaphragmatic disorder											DOID:10481|UMLS:C0152097|ICD10:J98.6|SCTID:48475001|EFO:0007233|ICD9:519.4																		owl:Class
MONDO:0008150	biolink:NamedThing	osteoglophonic dwarfism	Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.	mondoexuq1wtf	Osteoglosphonic dysplasia|osteoglophonic dwarfism|OGD|Fairbank-Keats syndrome|OSTEOGLOPHONIC dysplasia											DOID:0111532|GARD:0004142|ICD10:Q87.1|SCTID:254144002|Orphanet:2645|MESH:C536050|OMIM:166250																		owl:Class
MONDO:0012921	biolink:NamedThing	type 1 diabetes mellitus 22	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, type 22|diabetes mellitus, insulin-dependent, 22|CCR5 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CCR5|insulin-dependent diabetes mellitus 22|IDDM22											UMLS:C2675864|DOID:0110759|MESH:C567284|ICD10:E10|OMIM:612522																		owl:Class
MONDO:0005147	biolink:NamedThing	type 1 diabetes mellitus	A chronic condition characterized by minimal or absent production of insulin by the pancreas.	mondoexuq1wtf	diabetes mellitis type I|type I diabetes|insulin dependent diabetes|immune mediated diabetes|type I diabetes mellitus|type 1 diabetes|IDDM|insulin-dependent diabetes mellitus|insulin dependent diabetes mellitus|diabetes mellitis type 1|juvenile diabetes											EFO:0001359|DOID:9744|SCTID:46635009|NCIT:C2986|MESH:D003922|KEGG:04940|COHD:201254|ICD10:E10																		owl:Class
MONDO:0007724	biolink:NamedThing	hirsutism-skeletal dysplasia-intellectual disability syndrome		mondoexuq1wtf	hirsutism skeletal dysplasia mental retardation syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann-Oldigs-Oppermann syndrome|hirsutism skeletal dysplasia intellectual disability syndrome|Wiedemann Oldigs Oppermann syndrome|hirsutism, skeletal dysplasia, and mental retardation											MESH:C536705|GARD:0005566|OMIM:142625|UMLS:C0795976|ICD10:Q87.8|Orphanet:2156																		owl:Class
MONDO:0016386	biolink:NamedThing	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	mondoexuq1wtf	Chang-Davidson-Carlson syndrome											MESH:C538075|Orphanet:2235|UMLS:C2931722																		owl:Class
MONDO:0015770	biolink:NamedThing	congenital hypogonadotropic hypogonadism	Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).	mondoexuq1wtf												UMLS:C3899503|NCIT:C120162|SCTID:722944006|ICD10:E23.0|Orphanet:174590																		owl:Class
MONDO:0037937	biolink:NamedThing	pyrimidine metabolism disease	A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.	mondoexuq1wtf	disorder of pyrimidine metabolism|pyrimidine nucleobase metabolic process disease|disorder of pyrimidine nucleobase metabolic process											SCTID:85444005|UMLS:C0268127																		owl:Class
MONDO:0006087	biolink:NamedThing	appendix adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the vermiform appendix.	mondoexuq1wtf	vermiform appendix adenocarcinoma|adenocarcinoma of the appendix|appendiceal adenocarcinoma|appendix adenocarcinoma|APAD|adenocarcinoma of appendix											UMLS:C0238003|EFO:1000088|DOID:3608|GARD:0010564|SCTID:413445002|NCIT:C7718|ONCOTREE:APAD																		owl:Class
MONDO:0006028	biolink:NamedThing	cecum adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the caecum	mondoexuq1wtf	caecum adenocarcinoma|cecal adenocarcinoma|adenocarcinoma of cecum|cecum adenocarcinoma|adenocarcinoma of the cecum											DOID:3039|SCTID:413446001|NCIT:C5543|UMLS:C1332866|EFO:1000020																		owl:Class
MONDO:0010602	biolink:NamedThing	hemophilia A	Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.	mondoexuq1wtf	hemophilia type a|hem A|hemophilia type A|hereditary Factor VIII deficiency|classic hemophilia|hemophilia A, congenital|hemophilia A|HEMA|hemophilia, classic|factor VIII deficiency|congenital factor VIII disorder|hereditary Factor VIII deficiency disease|autosomal hemophilia a|Haemophilia A|factor 8 deficiency|Subhemophilia|classical hemophilia											UMLS:CN239112|ICD9:286.0|Orphanet:98878|OMIM:134500|NCIT:C27146|MedDRA:10016080|MESH:D006467|UMLS:C0019069|GARD:0006591|DOID:12134|OMIM:306700|SCTID:234440005|ICD10:D66|EFO:0007267																		owl:Class
MONDO:0019497	biolink:NamedThing	nonsyndromic genetic deafness	A disease characterized by hearing loss that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic deafness|nonsyndromic hereditary hearing loss|nonsyndromic hearing loss|familial deafness|non-syndromic genetic deafness|isolated genetic deafness											EFO:0009076|DOID:0050563|UMLS:CN043648|GARD:0006410|ICD10:H90.5|Orphanet:87884|MESH:C580334														https://rarediseases.info.nih.gov/diseases/6410/familial-deafness				owl:Class
MONDO:0009008	biolink:NamedThing	heart defect - tongue hamartoma - polysyndactyly syndrome		mondoexuq1wtf	Orstavik Lindemann Solberg syndrome|CHDTHP|Ostravik-Lindemann-Solberg syndrome|congenital heart defects, hamartomas of tongue, and polysyndactyly|heart defect, tongue hamartoma and polysyndactyly											OMIM:217085|MESH:C535849|DOID:0111591|Orphanet:1338|GARD:0004166|UMLS:C2931046|ICD10:Q87.8|GARD:0002612																		owl:Class
MONDO:0017278	biolink:NamedThing	autoimmune polyendocrinopathy	A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.	mondoexuq1wtf	autoimmune polyglandular syndrome(s)|Lloyd's syndrome|autoimmune polyendocrinopathy syndrome|autoimmune polyendocrine syndrome|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyglandular failure|autoimmune polyendocrinopathy|APS											UMLS:C0085409|ICD10:E31.0|UMLS:C4316913|NCIT:C84576|SCTID:41864002|Orphanet:282196|DOID:14040|ICD9:258.8|NCIT:C129726																		owl:Class
MONDO:0004143	biolink:NamedThing	psammomatous meningioma	A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.	mondoexuq1wtf	psammomatous meningioma (morphologic abnormality)											EFO:1000500|ICDO:9533/0|DOID:7210|NCIT:C4331|UMLS:C0334607																		owl:Class
MONDO:0009857	biolink:NamedThing	persistent Mullerian duct syndrome	Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.	mondoexuq1wtf	persistent Muellerian duct syndrome|persistent Müllerian duct syndrome|female genital ducts in otherwise normal male|persistent Müllerian derivatives|PMDS|pseudohermaphroditism, Male internal|persistent MULLERIAN duct syndrome, types I and II|hernia uteri inguinale|female genital ducts in otherwise normal Male|persistent Mullerian derivatives|persistent oviduct syndrome|persistent mullerian duct syndrome, types 1 and 2											DOID:0050791|ICD9:752.89|OMIM:261550|MESH:C536665|UMLS:C1849930|GARD:0008435|SCTID:702358005|NCIT:C120188|ICD10:Q55.8|Orphanet:2856														https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome				owl:Class
MONDO:0001032	biolink:NamedThing	Mooren ulcer		mondoexuq1wtf	Mooren's ulcer											Orphanet:519408|SCTID:22440001|UMLS:C0155072|DOID:10439|ICD9:370.07|ICD10:H16.05																		owl:Class
MONDO:0018965	biolink:NamedThing	Alport syndrome	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.	mondoexuq1wtf	Alport deafness-nephropathy|hereditary nephritis|Alport's syndrome											ICD10:Q87.81|Orphanet:63|DOID:10983|MedDRA:10001843|ICD10:Q87.8|UMLS:C1567741|NCIT:C34842|OMIMPS:301050																		owl:Class
MONDO:0000701	biolink:NamedThing	ischemic colitis	Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.	mondoexuq1wtf	colonic ischemia											SCTID:30588004|MESH:D017091|DOID:0060181|UMLS:C0162529|ICD10:K55.9																		owl:Class
MONDO:0020637	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to a partial deficiency		mondoexuq1wtf																														owl:Class
MONDO:0021380	biolink:NamedThing	neoplasm of myocardium	A neoplasm (disease) that involves the myocardium.	mondoexuq1wtf	myocardium neoplasm|myocardium neoplasm (disease)|neoplasm of myocardium|myocardial neoplasm|myocardium tumor|tumor of the myocardium|myocardial tumor|neoplasm of the myocardium|tumor of myocardium											SCTID:126732009|UMLS:C1290402|ICD9:239.89|NCIT:C5349																		owl:Class
MONDO:0021209	biolink:NamedThing	heart neoplasm	A neoplasm (disease) that involves the heart.	mondoexuq1wtf	neoplasm of heart|tumor of heart|primary cardiac tumors, childhood|heart tumor|myocardial tumors (rhabdomyomas and fibromas)|Intracavitary tumors|Cardiac neoplasm|tumor of the heart|heart neoplasm (disease)|neoplasm of the heart|Cardiac neoplasms|Cardiac tumor											EFO:1001339|NCIT:C3081|GARD:0002619																		owl:Class
MONDO:0100393	biolink:NamedThing	acute myeloid leukemia, t(8;16)	Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)	mondoexuq1wtf	AML, t(8;16)																													owl:Class
MONDO:0016356	biolink:NamedThing	diffuse cutaneous systemic sclerosis	Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).	mondoexuq1wtf	progressive cutaneous systemic sclerosis|dSSc|DcSSc|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic scleroderma											ICD10:M34.0|Orphanet:220393|NCIT:C116791|GARD:0009751														https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis				owl:Class
MONDO:0005100	biolink:NamedThing	systemic sclerosis	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.	mondoexuq1wtf	Scleroderma, systemic|Scleroderma (& [systemic sclerosis])|PSS (progressive systemic sclerosis)|Scleroderma|systemic sclerosis|progressive systemic sclerosis|diffuse sclerosis|systemic Scleroderma|Scleroderma syndrome|SSc, diffuse sclerosis|SSc|Scleroderma, diffuse|diffuse Scleroderma|systemic scleroderma											ICD10:M34.8|UMLS:CN206012|Orphanet:90291|SCTID:89155008|ICD9:710.1|MedDRA:10042953|NCIT:C72070|ICD10:M34.0|EFO:0000717|MESH:D012595|COHD:134442|ICD10:M34.1|GARD:0009748|DOID:418|ICD10:M34.9|ICD10:M34.2																		owl:Class
MONDO:0014321	biolink:NamedThing	premature ovarian failure 8	Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.	mondoexuq1wtf	STAG3 primary ovarian failure|primary ovarian failure caused by mutation in STAG3|POF8|premature ovarian failure 8|premature ovarian failure type 8											OMIM:615723|UMLS:C3810367																		owl:Class
MONDO:0017144	biolink:NamedThing	alpha-thalassemia and related diseases		mondoexuq1wtf												UMLS:CN202570|Orphanet:275745|ICD10:D56.0																		owl:Class
MONDO:0044348	biolink:NamedThing	hemoglobinopathy		mondoexuq1wtf	hemoglobin disorder|hemoglobinopathy|hemoglobin disease|globin abnormality											SCTID:80141007|ICD9:282.7																		owl:Class
MONDO:0019278	biolink:NamedThing	hair anomaly		mondoexuq1wtf												Orphanet:79363																		owl:Class
MONDO:0005170	biolink:NamedThing	myeloid neoplasm	Proliferation of myeloid cells originating from a primitive stem cell.	mondoexuq1wtf	myeloid tumor|myeloid neoplasm|myeloid malignancy											ONCOTREE:MYELOID|EFO:0002427|ICDO:9975/1|UMLS:C2939461|NCIT:C9290|DOID:0070004																		owl:Class
MONDO:0009580	biolink:NamedThing	intellectual disability, autosomal recessive 1	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.	mondoexuq1wtf	MRT1|mental retardation, autosomal recessive type 1|intellectual disability, autosomal recessive 1|mental retardation, autosomal recessive 1|PRSS12 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|intellectual disability, autosomal recessive type 1											OMIM:249500|UMLS:C1855304|MESH:C565406																		owl:Class
MONDO:0013281	biolink:NamedThing	COG4-CDG	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type IIj|CDG IIj|congenital disorder of glycosylation type IIj|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation, type IIj|CDG-IIj|congenital disorder of glycosylation type 2j|COG4-CDG (CDG-IIj)											OMIM:613489|GARD:0012412|SCTID:718751000|DOID:0070262|Orphanet:263501|ICD10:E77.8|UMLS:C3150736																		owl:Class
MONDO:0021301	biolink:NamedThing	adenoma of nipple	A adenoma that involves the nipple.	mondoexuq1wtf	papillomatosis, subareolar duct|adenoma of the nipple|subareolar duct papillomatosis|nipple adenoma											SCTID:302829009|NCIT:C4192|ICDO:8506/0|UMLS:C0334378																		owl:Class
MONDO:0002482	biolink:NamedThing	nipple neoplasm	A benign or malignant neoplasm that arises in the area of the nipple.	mondoexuq1wtf	neoplasm of the nipple|neoplasm of nipple|nipple tumor|tumor of nipple|tumor of the nipple|nipple neoplasm|nipple neoplasm (disease)											UMLS:C1112166|NCIT:C5212|DOID:3003																		owl:Class
MONDO:0004563	biolink:NamedThing	physiological polycythemia	Polycythemia that is not pathologic.	mondoexuq1wtf												NCIT:C27311|DOID:8431|UMLS:C0856817																		owl:Class
MONDO:0005571	biolink:NamedThing	polycythemia	Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.	mondoexuq1wtf	polycythemia|erythrocythemia|polycythemia (disease)		polycythemia (disease)									MedDRA:10036051|NCIT:C26863|UMLS:C0032461|EFO:0005804|HP:0001901|ICD10:D75.1|MESH:D011086|Orphanet:98427|DOID:8432																		owl:Class
MONDO:0010382	biolink:NamedThing	fragile X-associated tremor/ataxia syndrome	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.	mondoexuq1wtf	FXTAS syndrome|fragile 10 tremor/ataxia syndrome|FXTAS|fragile X tremor/ataxia syndrome											UMLS:C1839780|Orphanet:93256|OMIM:300623|DOID:0050879|SCTID:448045004|ICD10:G11.2|MESH:C564105|NCIT:C126566																		owl:Class
MONDO:0031178	biolink:NamedThing	monosomy 7 myelodysplasia and leukemia syndrome		mondoexuq1wtf												OMIMPS:252270																		owl:Class
MONDO:0001723	biolink:NamedThing	progressive peripheral pterygium		mondoexuq1wtf												COHD:377291|ICD9:372.42|SCTID:193881001|DOID:13474|UMLS:C0155155																		owl:Class
MONDO:0001055	biolink:NamedThing	conjunctival pterygium		mondoexuq1wtf	web eye											DOID:10526																		owl:Class
MONDO:0024950	biolink:NamedThing	horse disease	Diseases of domestic and wild horses of the species Equus caballus.	mondoexuq1wtf	disease, horse|equine diseases|diseases, horse|horse disease|disease, equine|diseases, equine|equine disease											UMLS:C0019940|MESH:D006734																		owl:Class
MONDO:0002876	biolink:NamedThing	cervical adenosarcoma	A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.	mondoexuq1wtf	cervical adenosarcoma|adenosarcoma of the cervix uteri|cervical Mullerian adenosarcoma|uterine cervix adenosarcoma|adenosarcoma of uterine cervix|cervical Müllerian adenosarcoma|cervical Muellerian adenosarcoma											ICD10:C53.1|SCTID:764847000|ICD10:C53.8|DOID:4111|Orphanet:213792|UMLS:CN201069|ICD10:C53.0|UMLS:C1516426|NCIT:C40229																		owl:Class
MONDO:0008964	biolink:NamedThing	congenital secretory chloride diarrhea 1	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.	mondoexuq1wtf	familial chloride diarrhea|CLD|Darrow-gamble disease|congenital chloride diarrhea|chloride diarrhea, congenital, Finnish type|congenital secretory chloride diarrhea type 1|DIAR1|diarrhea 1, secretory chloride, congenital|SLC26A3 secretory diarrhea|congenital chloride diarrhea Finnish type|Chloridorrhea, congenital|congenital chloridorrhea|secretory diarrhea caused by mutation in SLC26A3											Orphanet:53689|OMIM:214700|SCTID:24412005|MESH:C536210|ICD9:579.8|DOID:0060296|GARD:0010001|ICD10:P78.3																		owl:Class
MONDO:0011291	biolink:NamedThing	congenital disorder of glycosylation type 1C	A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type Ic|CDGS5 (formerly)|glucosyltransferase 1 deficiency|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|carbohydrate-deficient glycoprotein syndrome, type V, formerly|CDG1C|CDG Ic|congenital disorder of glycosylation caused by mutation in ALG6|CDGIc|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|CDG-Ic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|carbohydrate-deficient glycoprotein syndrome type 1C|congenital disorder of glycosylation type Ic|CDG 1C|ALG6-CDG|congenital disorder of glycosylation, type Ic|CDG syndrome type Ic|ALG6-CDG (CDG-Ic)|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|carbohydrate-deficient glycoprotein syndrome, type V|ALG6 congenital disorder of glycosylation											GARD:0009829|UMLS:C2930997|NCIT:C126869|MESH:C535741|SCTID:709412006|ICD10:E77.8|DOID:0080555|Orphanet:79320|OMIM:603147																		owl:Class
MONDO:0021289	biolink:NamedThing	carcinoma in situ of cecum	A in situ carcinoma that involves the caecum.	mondoexuq1wtf	caecum carcinoma in situ|caecum in situ carcinoma|cecum carcinoma in situ aJCC v7|stage 0 cecum carcinoma|cecum carcinoma in situ|stage 0 caecum carcinoma|carcinoma in situ of the cecum|cecum carcinoma in situ aJCC v6|carcinoma in situ of caecum											NCIT:C4594|UMLS:C0347126|SCTID:92559007																		owl:Class
MONDO:0015413	biolink:NamedThing	median cleft of the upper lip and maxilla	Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.	mondoexuq1wtf												ICD10:Q18.8|Orphanet:141239																		owl:Class
MONDO:0021300	biolink:NamedThing	adenoid cystic carcinoma of oropharynx	A adenoid cystic carcinoma that involves the oropharynx.	mondoexuq1wtf	oropharyngeal adenoid cystic carcinoma|oropharynx adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the oropharynx											UMLS:C1335139|SCTID:423318000|NCIT:C6241																		owl:Class
MONDO:0044926	biolink:NamedThing	oropharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.	mondoexuq1wtf	carcinoma of oropharynx|oropharyngeal carcinoma|cancer of the oropharynx|oropharyngeal cancer|oropharynx carcinoma|carcinoma of the oropharynx|oropharyngeal throat cancer|cancer of oropharynx											NCIT:C9105																		owl:Class
MONDO:0020111	biolink:NamedThing	constitutional megaloblastic anemia due to folate metabolism disorder		mondoexuq1wtf												ICD10:D52.8|UMLS:CN227786|Orphanet:98408																		owl:Class
MONDO:0002685	biolink:NamedThing	childhood choroid plexus carcinoma	A choroid plexus carcinoma that occurs during childhood.	mondoexuq1wtf	childhood choroid plexus neoplasm|childhood choroid plexus carcinoma|childhood choroid plexus cancer|pediatric choroid plexus carcinoma|choroid plexus carcinoma of childhood											UMLS:C0280623|DOID:3545|NCIT:C124292																		owl:Class
MONDO:0002071	biolink:NamedThing	supratentorial cancer	Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.	mondoexuq1wtf	brain neoplasm, supratentorial|supratentorial neoplasms, malignant|malignant supratentorial neoplasm|malignant supratentorial tumor											MESH:D015173|NCIT:C4964|ICD10:C71.0|DOID:1659																		owl:Class
MONDO:0024945	biolink:NamedThing	hepatitis, non-human animal	Inflammation of the liver in non-human animals.	mondoexuq1wtf	animal Hepatitides|animal Hepatitis|Hepatitides, animal											MESH:D006520																		owl:Class
MONDO:0011334	biolink:NamedThing	limb-mammary syndrome	Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.	mondoexuq1wtf	LMS|mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|limb-mammary syndrome											GARD:0010051|OMIM:603543|Orphanet:69085|MESH:C535903|SCTID:721972001																		owl:Class
MONDO:0010827	biolink:NamedThing	retinitis pigmentosa 14	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.	mondoexuq1wtf	RP14|retinitis pigmentosa caused by mutation in TULP1|retinitis pigmentosa type 14|retinitis pigmentosa 14|TULP1 retinitis pigmentosa|RP 14											GARD:0010385|UMLS:C1838603|OMIM:600132|ICD10:H35.5|DOID:0110381														https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14				owl:Class
MONDO:0018370	biolink:NamedThing	KLHL9-related early-onset distal myopathy	KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	mondoexuq1wtf												ICD10:G71.0|Orphanet:399081|SCTID:763776004																		owl:Class
MONDO:0016108	biolink:NamedThing	autosomal dominant distal myopathy	Autosomal dominant form of distal myopathy.	mondoexuq1wtf	distal myopathy, autosomal dominant											UMLS:CN229018|ICD10:G71.0|Orphanet:206650																		owl:Class
MONDO:0018631	biolink:NamedThing	Marie Unna hereditary hypotrichosis	Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.	mondoexuq1wtf	MUHH|hypotrichosis, Marie Unna type|Marie Unna congenital hypotrichosis											Orphanet:444|ICD10:Q84.0|UMLS:C2931059|GARD:0003390|MESH:C535912																		owl:Class
MONDO:0002907	biolink:NamedThing	intracranial thrombosis	Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.	mondoexuq1wtf	cerebral thrombosis											SCTID:71444005|UMLS:C0752143|DOID:4193|COHD:441874|ICD9:434.0|ICD9:434.00|MESH:D020767																		owl:Class
MONDO:0011057	biolink:NamedThing	cerebrovascular disorder	A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.	mondoexuq1wtf	CVA|stroke|cerebral infarction|CVA (cerebral vascular accident)|cerebrovascular accident|cerebrovascular disease|cerebrovascular disorder											ICD9:430-438.99|SCTID:62914000|ICD9:437.8|EFO:0003763|NCIT:C2938|DOID:6713|ICD10:I67.9|ICD9:434.91|ICD10:I60.I69|UMLS:C0007820|ICD9:437.9|ICD10:I60-I69|ICD10:I63.9|MESH:D002561																		owl:Class
MONDO:0020632	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 3		mondoexuq1wtf	epileptic encephalopathy, infantile or early childhood, 3|IECEE3											OMIM:618012|UMLS:CN248521																		owl:Class
MONDO:0020627	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood		mondoexuq1wtf						See https://github.com/monarch-initiative/mondo/issues/271						OMIMPS:617711																		owl:Class
MONDO:0005053	biolink:NamedThing	ischemic disease	Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.	mondoexuq1wtf	ischemia					Editor note: represented as a finding in other ontologies						EFO:0000556|NCIT:C34738|SCTID:52674009|MESH:D007511|DOID:326																		owl:Class
MONDO:0020804	biolink:NamedThing	basal cell carcinoma	A carcinoma involving the basal cells.	mondoexuq1wtf	malignant basal cell neoplasm|epithelioma, basal cell|basal cell cancer											NCIT:C156767|MESH:D002280|NCIT:C7586																		owl:Class
MONDO:0020799	biolink:NamedThing	basal cell neoplasm	A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.	mondoexuq1wtf	neoplasm, basal cell|basal cell tumor											SCTID:127570002|MESH:D018295|NCIT:C3784|ICDO:8090/1																		owl:Class
MONDO:0024497	biolink:NamedThing	tumor grade 3 or 4, general grading system	Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.	mondoexuq1wtf	grade 3/4|high grade											NCIT:C14158																		owl:Class
MONDO:0011274	biolink:NamedThing	Muenke syndrome	Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.	mondoexuq1wtf	MNKES|FGFR3-related craniosynostosis|Muenke nonsyndromic coronal craniosynostosis|Muenke syndrome|syndrome of coronal craniosynostosis											UMLS:C1864436|Orphanet:53271|SCTID:440350001|NCIT:C84904|GARD:0007097|OMIM:602849|ICD10:Q87.0|MESH:C537369|DOID:0060703														https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome				owl:Class
MONDO:0002237	biolink:NamedThing	carbuncle	An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.	mondoexuq1wtf	carbuncle and furuncle of foot|carbuncle and furuncle of face|carbuncle and furuncle of buttock|carbuncle and furuncle of neck|carbuncle and furuncle of trunk|carbuncle and furuncle of gluteal region|carbuncle and furuncle of hand|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of leg except foot											ICD9:680.9|SCTID:416893007|EFO:1000674|UMLS:C0007078|DOID:2176|ICD9:680.8|MESH:D002270																		owl:Class
MONDO:0021446	biolink:NamedThing	benign neoplasm of epiglottis	A benign neoplasm that involves the epiglottis.	mondoexuq1wtf	benign epiglottic tumor|benign Epiglottis tumor|benign tumor of the Epiglottis|benign tumor of Epiglottis|benign epiglottic neoplasm|epiglottis benign neoplasm|benign Epiglottis neoplasm|benign neoplasm of the Epiglottis											SCTID:92089006|NCIT:C4606|UMLS:C0347236																		owl:Class
MONDO:0004109	biolink:NamedThing	epiglottis neoplasm	A benign or malignant neoplasm that affects the epiglottis.	mondoexuq1wtf	neoplasm of Epiglottis|epiglottis neoplasm (disease)|neoplasm of the Epiglottis|tumor of epiglottis|epiglottic neoplasm|tumor of the Epiglottis|Epiglottis tumor|neoplasm of epiglottis|epiglottic tumor|tumor of Epiglottis|epiglottis tumor										MONDO:0021347	SCTID:126699008|NCIT:C4933|UMLS:C1290353|DOID:7105																		owl:Class
MONDO:0019390	biolink:NamedThing	Susac syndrome	Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.	mondoexuq1wtf	retinopathy-encephalopathy-deafness associated with microangiopathy|RED-M|SICRET syndrome|small infarctions of cochlear, retinal and encephalic tissue|SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|Retinocochleocerebral vasculopathy											ICD10:I67.7|SCTID:702575003|NCIT:C116363|Orphanet:838|UMLS:C2717757|EFO:1001856|ICD9:348.39|MedDRA:10071573|MESH:D055955|GARD:0007713														https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome				owl:Class
MONDO:0000603	biolink:NamedThing	autoimmune disease of cardiovascular system	A hypersensitivity reaction type II disease that involves the cardiovascular system.	mondoexuq1wtf	cardiovascular system hypersensitivity reaction type II disease|cardiovascular system autoimmune disease											DOID:0060051																		owl:Class
MONDO:0008960	biolink:NamedThing	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	mondoexuq1wtf	neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|deafness with Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease and deafness|neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers											SCTID:715666007|Orphanet:90103|OMIM:214370|ICD10:G60.0																		owl:Class
MONDO:0007533	biolink:NamedThing	elliptocytosis 2	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	mondoexuq1wtf	elliptocytosis type 2|SPTA1 hereditary elliptocytosis|elliptocytosis, Rhesus-unlinked type|elliptocytosis 2|EL2|hereditary elliptocytosis caused by mutation in SPTA1											UMLS:C1851741|MESH:C565058|OMIM:130600																		owl:Class
MONDO:0017319	biolink:NamedThing	hereditary elliptocytosis	Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.	mondoexuq1wtf	Hereditary ovalocytosis|ovalocytosis|congenital elliptocytosis|he											DOID:2373|DC:0000130|MedDRA:10014490|ICD10:D58.1|GARD:0006621|Orphanet:288|SCTID:178935009|NCIT:C35882|ICD9:282.1|MESH:D004612|COHD:22288|UMLS:C0013902																		owl:Class
MONDO:0013422	biolink:NamedThing	type I complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.	mondoexuq1wtf	complement component 8 deficiency, type I|C8 Alpha-gamma deficiency|C8D1|C8Ag deficiency|C81 deficiency|complement component 8 deficiency type 1|classic complement early component deficiency caused by mutation in C8A|C8A classic complement early component deficiency|complement component 8 deficiency, type 1|complement component 8 deficiency type I|C8 deficiency type I|C8 deficiency, type 1											DOID:0060301|GARD:0010626|HGNC:1352|UMLS:C3151081|ICD10:D84.1|OMIM:613790														https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1				owl:Class
MONDO:0000015	biolink:NamedThing	classic complement early component deficiency	A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.	mondoexuq1wtf	genetic deficiency of early component of the classical complement pathway											ICD9:279.8|SCTID:363009005|DC:0000094|GARD:0009526|UMLS:C1285186														https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency				owl:Class
MONDO:0006813	biolink:NamedThing	intradermal nevus	A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.	mondoexuq1wtf	dermal Nevus											SCTID:302838006|MESH:D018330|UMLS:C0206737|MedDRA:10058537|EFO:1000995|NCIT:C3804|ICDO:8750/0																		owl:Class
MONDO:0010619	biolink:NamedThing	X-linked dominant hypophosphatemic rickets	X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.	mondoexuq1wtf	hypophosphatemic rickets X-linked dominant|HPDR|rickets, vitamin D-resistant|hypophosphatemia, X-linked|hypophosphatemic rickets, X-linked dominant|hypophosphatemia, vitamin D-resistant rickets|HYP|hypophophatemia, X-linked|hypophophatemic vitamin D-resistant rickets|X-linked hypophosphatemic rickets|X-linked hereditary hypophosphatemic rickets|hypophosphatemic vitamin D-resistant rickets|X-linked hypophosphatemia|XLH|XLHR|hereditary hypophosphatemic rickets, X-linked|hypophosphatemic rickets, X-linked|vitamin D-resistant rickets, X-linked											DOID:0050445|ICD10:E83.31|ICD10:E83.3|Orphanet:89936|GARD:0012943|SCTID:82236004|OMIM:307800														https://github.com/monarch-initiative/mondo/issues/2844				owl:Class
MONDO:0020720	biolink:NamedThing	X-linked hypophosphatemic rickets		mondoexuq1wtf	X-linked hypophosphatemic rickets (recessive or dominant)											UMLS:C3540852|NCIT:C123265|MESH:D053098														https://github.com/monarch-initiative/mondo/issues/2844				owl:Class
MONDO:0037255	biolink:NamedThing	ovarian serous tumor	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.	mondoexuq1wtf	ovarian serous neoplasm|ovarian serous tumor|serous tumor of ovary|serous neoplasm of the ovary|serous tumor of the ovary|serous neoplasm of ovary											NCIT:C8431|UMLS:C0476122																		owl:Class
MONDO:0002229	biolink:NamedThing	ovarian epithelial tumor	A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.	mondoexuq1wtf	epithelial neoplasm of the ovary|ovary epithelial neoplasm|epithelial tumor of the ovary|ovary epithelial cancer|ovarian epithelial tumor|ovarian surface epithelial-stromal tumor|epithelial tumor of ovary|OVT|epithelial neoplasm of ovary|ovarian surface-epithelial stromal neoplasm											UMLS:C0341823|DOID:2152|ONCOTREE:OVT|NCIT:C4381|SCTID:237057005|ICD9:239.5																		owl:Class
MONDO:0015238	biolink:NamedThing	arrhinia-choanal atresia-microphthalmia syndrome	Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	mondoexuq1wtf	congenital absence of nose and anterior nasopharynx|Bosma arhinia microphthalmia syndrome|Bosma Henkin Christiansen syndrome|arhinia choanal atresia microphthalmia											GARD:0008755|Orphanet:1135|ICD10:Q87.0														https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia				owl:Class
MONDO:0001185	biolink:NamedThing	dissociative amnesia	A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.	mondoexuq1wtf	psychogenic amnesia											ICD9:300.12|COHD:444259|SCTID:84209002|DOID:11037|NCIT:C94328|ICD10:F44.0																		owl:Class
MONDO:0006491	biolink:NamedThing	vulvar lichen sclerosus	A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.	mondoexuq1wtf	vulvar lichen sclerosus|mammalian vulva lichen sclerosus et atrophicus|lichen sclerosus et atrophicus of mammalian vulva											MESH:D007724|UMLS:C0022783|NCIT:C27723|EFO:1000623																		owl:Class
MONDO:0007899	biolink:NamedThing	lichen sclerosus et atrophicus	A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.	mondoexuq1wtf	lichen sclerosus|lichen SCLEROSUS ET ATROPHICUS|lichen sclerosus et atrophicus|lichen sclerosis et atrophicus|lichen sclerosis|LSA											MESH:D018459|ICD10:L90.0|SCTID:25674000|COHD:4119189|NCIT:C26817|UMLS:C0023652|GARD:0006905|OMIM:151590																		owl:Class
MONDO:0004600	biolink:NamedThing	monocytic leukemia		mondoexuq1wtf	schilling's leukemia											ICD9:206.80|ICD9:206.8|ICD10:C93.Z|ICD10:C93.Z0|ICD9:206.90|ICD9:206.81|ICD9:206.91|DOID:8527|COHD:321526|SCTID:188744006																		owl:Class
MONDO:0044685	biolink:NamedThing	autoimmune/inflammatory optic neuropathy		mondoexuq1wtf												Orphanet:499047																		owl:Class
MONDO:0009740	biolink:NamedThing	neurofaciodigitorenal syndrome	Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	mondoexuq1wtf	Freire Maia-Pinheiro-Opitz syndrome|Freire-Maia Pinheiro Opitz syndrome|neurofaciodigitorenal syndrome|Nfdr syndrome											ICD10:Q87.8|OMIM:256690|GARD:0003964|MESH:C537388|Orphanet:2673|SCTID:725908007|UMLS:C0796088														https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome				owl:Class
MONDO:0015650	biolink:NamedThing	epilepsy syndrome		mondoexuq1wtf	syndromic epilepsy|epileptic syndrome											Orphanet:166463																		owl:Class
MONDO:0014458	biolink:NamedThing	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.	mondoexuq1wtf	HNF4A Fanconi syndrome|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|Fanconi syndrome caused by mutation in HNF4A|FRTS4 with MODY|FRTS4											UMLS:C4014962|OMIM:616026																		owl:Class
MONDO:0000908	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 13	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.	mondoexuq1wtf	arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|ARVC13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 13|arrhythmogenic right ventricular dysplasia, familial, 13|arrhythmogenic right ventricular cardiomyopathy 13|familial arrhythmogenic right ventricular dysplasia 13|arrhythmogenic right ventricular dysplasia, familial, type 13|ARVD13											UMLS:C3810138|OMIM:615616|DOID:0110084|ICD10:I42.8																		owl:Class
MONDO:0016342	biolink:NamedThing	familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	mondoexuq1wtf	familial isolated ARVC|familial isolated arrhythmogenic ventricular dysplasia|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated ARVD|familial isolated arrhythmogenic right ventricular cardiomyopathy											UMLS:C4274968|SCTID:715865008|UMLS:CN226907|Orphanet:217656|ICD10:I42.8|OMIMPS:107970																		owl:Class
MONDO:0008915	biolink:NamedThing	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	mondoexuq1wtf	cardiomyopathy, dilated, with hypergonadotropic hypogonadism|Malouf syndrome|cardiogenital syndrome|Najjar syndrome|cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|cardiomyopathy with primary testicular failure|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|dilated cardiomyopathy with hypergonadotropic hypogonadism											UMLS:C0796083|OMIM:212112|SCTID:719451006|DOID:0111584|ICD10:Q87.8|Orphanet:2229|UMLS:C0796031|GARD:0003373																		owl:Class
MONDO:0002253	biolink:NamedThing	spondylosis	A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.	mondoexuq1wtf	spondylogenic compression of thoracic spinal cord|spondylogenic compression of lumbar spinal cord|lumbosacral spondylosis without myelopathy|lumbar spondylosis with myelopathy|spondylosis with myelopathy|thoracic or lumbar spondylosis with myelopathy											UMLS:C0038019|MESH:D055009|COHD:4227449|ICD9:721.9|DOID:2247|SCTID:48210000|ICD10:M47|ICD10:M47.9|ICD9:721.3																		owl:Class
MONDO:0005754	biolink:NamedThing	epilepsy with generalized tonic-clonic seizures	A generalized tonic-clonic seizure.	mondoexuq1wtf	tonic-clonic epilepsy|grand Mal epilepsy|epileptic seizures, tonic-clonic											UMLS:C0014549|ICD9:345.10|EFO:0007262|NCIT:C3022|DOID:7725|MESH:D004830|SCTID:352818000																		owl:Class
MONDO:0000415	biolink:NamedThing	adolescence-adult electroclinical syndrome	An electroclinical syndrome with onset in adolescence and adulthood.	mondoexuq1wtf												DOID:0050705																		owl:Class
MONDO:0018260	biolink:NamedThing	scalp syndrome		mondoexuq1wtf	sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome											ICD10:Q84.8|Orphanet:370052																		owl:Class
MONDO:0011162	biolink:NamedThing	cataract 14 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.	mondoexuq1wtf	CZP3|Cae3|early-onset non-syndromic cataract caused by mutation in GJA3|zonular pulverulent cataract 3|CTRCT14|cataract 14, multiple types|cataract, zonular pulverulent 3|GJA3 early-onset non-syndromic cataract|CAE3											ICD10:Q12.0|MESH:C566608|UMLS:C1866078|OMIM:601885|DOID:0110253																		owl:Class
MONDO:0000654	biolink:NamedThing	benign connective and soft tissue neoplasm	A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.	mondoexuq1wtf	tumor of the soft tissue|benign mesenchymal cell neoplasm|connective and soft tissue neoplasm, benign|benign tumor of the soft tissue and bone|benign neoplasm of the soft tissue and bone|benign connective and soft tissue neoplasm|soft tissue benign neoplasm|neoplasm of soft tissues|connective tissue benign neoplasm|benign connective and soft tissue tumor|neoplasm of soft tissue											COHD:374882|DOID:0060123|NCIT:C53684																		owl:Class
MONDO:0009669	biolink:NamedThing	spinal muscular atrophy, type 1	Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	mondoexuq1wtf	SMA1|Werdnig Hoffmann disease|spinal muscular atrophy, type I|Werdnig-Hoffman disease|severe infantile spinal muscular atrophy|spinal muscular atrophies of childhood|Werdnig-Hoffmann disease|progressive muscular atrophy of infancy|SMA type 1|muscular atrophy, infantile|infantile muscular atrophy|HMN (hereditary motor neuropathy) proximal type I|proximal spinal muscular atrophy type 1|survival motor neuron spinal muscular atrophy|Sma, infantile acute form|hereditary motor neuropathy proximal type I|proximal spinal muscular atrophy, type 1|SMA type I|spinal muscular atrophy 1|Sma 1|infantile spinal muscular atrophy|SMA-I											DOID:0060160|ICD9:335.11|COHD:372616|ICD10:G12.0|ICD9:335.0|NCIT:C98670|OMIM:253300|GARD:0007883|DOID:13137|Orphanet:83330|SCTID:64383006																		owl:Class
MONDO:0019079	biolink:NamedThing	proximal spinal muscular atrophy	Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	mondoexuq1wtf	SMA											UMLS:C4024957|Orphanet:70|GARD:0004531|ICD10:G12.0|ICD10:G12.1|EFO:0008929|UMLS:CN205570														https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy				owl:Class
MONDO:0020113	biolink:NamedThing	primary acquired red cell aplasia		mondoexuq1wtf	red cell aplasia|primary autoimmune red cell aplasia											ICD10:D60.0|ICD10:D60.9|MedDRA:10038184|Orphanet:98421|ICD10:D60.8|ICD10:D60.1																		owl:Class
MONDO:0005645	biolink:NamedThing	ancylostomiasis	Infection by hookworms of the genus Ancylostoma.	mondoexuq1wtf	Ancylostoma disease or disorder|hookworm infection|Ancylostoma infectious disease|Ancylostoma duodenale infection|Ancylostoma caused disease or disorder											DOID:12841|ICD10:B76.8|ICD9:126.8|SCTID:63479002|Orphanet:78|ICD10:B76.1|ICD10:B76.9|MedDRA:10020376|MESH:D000724|MONDO:0019184|ICD9:126.9|ICD10:B76.0|GARD:0009742|MedDRA:10002255|EFO:0007145|NCIT:C35805|UMLS:C0002831																		owl:Class
MONDO:0005973	biolink:NamedThing	Strongylida infectious disease	Infections with nematodes of the order strongylida.	mondoexuq1wtf												EFO:0007500|MESH:D017206																		owl:Class
MONDO:0032615	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 9		mondoexuq1wtf	MC1DN9|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9											OMIM:618232																		owl:Class
MONDO:0009561	biolink:NamedThing	alpha-mannosidosis	Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.	mondoexuq1wtf	alpha-mannosidosis|Alpha-D-mannosidosis|Alpha-mannosidase B deficiency|MANSA|lysosomal alpha-D-mannosidase deficiency|alpha-mannosidase deficiency|Alpha mannosidase B deficiency|deficiency of alpha-mannosidase|lysosomal Alpha-D-mannosidase deficiency|mannosidosis, alpha B lysosomal|mannosidosis, ALPHA B, lysosomal											DOID:3413|SCTID:65524005|OMIM:248500|ICD9:271.8|ICD10:E77.1|MESH:D008363|Orphanet:61|UMLS:C0024748|GARD:0006968|NCIT:C84548														https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis				owl:Class
MONDO:0008864	biolink:NamedThing	Biemond syndrome type 2	Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	mondoexuq1wtf	Biemond syndrome type 2|BIEMOND syndrome II|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly|Biemond syndrome 2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|BS2					Editor note: see also type 1, e.g. GARD:0000881						SCTID:717887003|MESH:C565902|OMIM:210350|GARD:0000882|UMLS:C1859487|Orphanet:141333														https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2				owl:Class
MONDO:0017658	biolink:NamedThing	hyperekplexia	A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia	mondoexuq1wtf												Orphanet:306773|ICD10:G25.8																		owl:Class
MONDO:0005288	biolink:NamedThing	intestinal polyp	Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.	mondoexuq1wtf	intestinal polyp (disease)|intestinal polyp		intestinal polyp (disease)									MESH:D007417|EFO:0003855|SCTID:254588001|HP:0005266|ICD9:569.89																		owl:Class
MONDO:0012028	biolink:NamedThing	autoimmune disease, susceptibility to, 3		mondoexuq1wtf	autoimmune disease, susceptibility to, 3|autoimmune disease susceptibility locus, chromosome 8-related|vitiligo-associated multiple autoimmune disease susceptibility 4|AIS3											OMIM:608392																		owl:Class
MONDO:0002297	biolink:NamedThing	epidermal appendage tumor	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	mondoexuq1wtf	skin appendage neoplasm|tumor of Epidermal appendage|Epidermal appendage tumor|cutaneous appendage tumor|cutaneous appendage neoplasm (disease)|tumor of skin appendage|neoplasm of skin appendage|skin appendage tumour|neoplasm of the skin appendage|neoplasm of Epidermal appendage|adnexal tumor of the skin|Epidermal appendage neoplasm|adnexal neoplasm of skin|skin appendage tumor|tumor of the skin appendage|neoplasm of skin with adnexal differentiation|cutaneous appendage neoplasm|adnexal tumor of skin|tumor of cutaneous appendage|cutaneous adnexal neoplasm|neoplasm of cutaneous appendage|adnexal neoplasm of the skin											NCIT:C4463|ICD9:239.2|DOID:2433|SCTID:126489007|UMLS:C0345988																		owl:Class
MONDO:0002531	biolink:NamedThing	skin neoplasm	A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.	mondoexuq1wtf	neoplasm of the skin|tumor of the skin|skin tumor|skin|neoplasm of skin by site|zone of skin neoplasm|skin neoplasm|neoplasm of skin|tumor of skin|skin benign neoplasm|skin neoplasms|neoplasm of zone of skin|zone of skin tumor|tumor of zone of skin|zone of skin neoplasm (disease)											NCIT:C3372|MESH:D012878|DOID:3165|ICD9:239.2|UMLS:C0037286|SCTID:126488004|ONCOTREE:SKIN|EFO:0004198																		owl:Class
MONDO:0002404	biolink:NamedThing	liver hemangioma	A hemangioma arising from the liver.	mondoexuq1wtf	hemangioma of the liver|hepatic angioma|angioma of liver|hepatic hemangioma|hemangioma of liver|angioma of the liver|liver hemangioma|liver angioma											SCTID:93469006|NCIT:C3869|DOID:271|UMLS:C0238246																		owl:Class
MONDO:0017765	biolink:NamedThing	disorder of magnesium transport	An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport.	mondoexuq1wtf	inborn error of magnesium ion transport|inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport											ICD10:E83.4|UMLS:CN227207|Orphanet:309848																		owl:Class
MONDO:0017761	biolink:NamedThing	disorder of mineral absorption and transport		mondoexuq1wtf												ICD10:E83.1|ICD10:E83.9|ICD10:E83.5|ICD10:E83.2|ICD10:E83.4|UMLS:CN227205|ICD10:E83.0|ICD10:E83.3|ICD10:E83.8|Orphanet:309836																		owl:Class
MONDO:0010100	biolink:NamedThing	Tay-Sachs disease	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.	mondoexuq1wtf	sphingolipidosis, Tay-Sachs|hexosaminidase alpha-subunit deficiency (variant B)|gangliosidosis GM2, type 1|GM2-gangliosidosis, type 1|hexosaminidase a deficiency, adult type|Tay-Sachs disease, pseudo-Ab variant|B variant GM2-gangliosidosis|TSD|hexa deficiency|GM2-gangliosidosis, adult chronic type|GM2 gangliosidosis, B, B1 variant|hexosaminidase a deficiency|hexosaminidase A deficiency|GM2-gangliosidosis, variant B1|GM2 gangliosidosis, type 1|B variant GM2 gangliosidosis|Tay-Sachs disease, juvenile|TAY-Sachs disease|disease, Tay-Sachs|Tay-Sachs disease|Tay-Sachs disease, variant B1											UMLS:C0039373|OMIM:272800|DOID:3320|NCIT:C85184|ICD10:E75.02|GARD:0007737|Orphanet:845|MESH:D013661|MedDRA:10043147|SCTID:111385000|ICD10:E75.0														https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease				owl:Class
MONDO:0016906	biolink:NamedThing	partial deletion of the long arm of chromosome 7	Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial deletion of the long arm of chromosome type 7|partial monosomy of chromosome 7q|loss of chromosome 7q|monosomy 7q|7q monosomy|7q deletion|partial monosomy of the long arm of chromosome 7|del(7q)|partial monosomy 7q|deletion 7q|partial deletion of chromosome 7q											GARD:0003765|ICD10:Q93.5|NCIT:C36408|Orphanet:262056																		owl:Class
MONDO:0016872	biolink:NamedThing	partial deletion of chromosome 7		mondoexuq1wtf	partial monosomy of chromosome 7|partial deletion of chromosome type 7											ICD10:Q93.5|Orphanet:261796																		owl:Class
MONDO:0001482	biolink:NamedThing	testicular leukemia	A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03	mondoexuq1wtf	testicular leukemia											UMLS:C1336711|DOID:12286|NCIT:C9277																		owl:Class
MONDO:0600008	biolink:NamedThing	cytokine release syndrome	A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.	mondoexuq1wtf	cytokine-associated toxicity|cytokine storm|CRS							http://orcid.org/0000-0002-5460-8025				NCIT:C78251																		owl:Class
MONDO:0019182	biolink:NamedThing	monogenic obesity		mondoexuq1wtf	genetic obesity|genetic obesity (disease)					We place OMIM:601665 here, although this includes						OMIM:601665|ICD10:E66.8|Orphanet:77828																		owl:Class
MONDO:0011122	biolink:NamedThing	obesity disorder	A disorder involving an excessive amount of body fat.	mondoexuq1wtf	obesity disease|obesity					Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes						UMLS:C0028754|DOID:9970|NIFSTD:nlx_dys_20090302|SCTID:414916001|NCIT:C3283|ICD9:278.0|ICD9:278.00|EFO:0001073|HP:0001513|COHD:433736|ICD10:E66.9																		owl:Class
MONDO:0008812	biolink:NamedThing	AREDYLD syndrome	AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.	mondoexuq1wtf	acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes|acrorenal defect-ectodermal dysplasia-diabetes syndrome|acral renal ectodermal dysplasia lipoatrophic diabetes|AREDYLD											Orphanet:1133|ICD9:753.3|UMLS:C0342280|ICD10:Q87.8|MESH:C537427|OMIM:207780|GARD:0008509|SCTID:237610008																		owl:Class
MONDO:0040676	biolink:NamedThing	great vessel cancer	A malignant neoplasm arising from the great vessels.	mondoexuq1wtf	malignant great vessel neoplasm|malignant great vessel of heart neoplasm|malignant neoplasm of great vessel of heart|malignant great vessel tumor|cancer of great vessel of heart|great vessel cancer|great vessel of heart cancer											UMLS:C3665405|NCIT:C4575																		owl:Class
MONDO:0024466	biolink:NamedThing	facial paresis, hereditary congenital, 1		mondoexuq1wtf	HCFP1|facial palsy, congenital, unilateral or bilateral|Mobius syndrome 2|facial paresis, hereditary congenital, 1|Mobius syndrome 2, formerly|Moebius syndrome 2, formerly|Moebius syndrome 2											OMIM:601471|UMLS:C1832284																		owl:Class
MONDO:0033547	biolink:NamedThing	Li-Ghorbani-Weisz-Hubshman syndrome		mondoexuq1wtf	LIGOWS|LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME											OMIM:618974																		owl:Class
MONDO:0013410	biolink:NamedThing	46,XY sex reversal 6		mondoexuq1wtf	46,XY Sex reversal type 6|46,XY SEX reversal 6|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY sex reversal 6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related|SRXY6											OMIM:613762|DOID:0111769|UMLS:C3151064																		owl:Class
MONDO:0024310	biolink:NamedThing	angiodysplasia of stomach	A angiodysplasia that involves the stomach.	mondoexuq1wtf	stomach angiodysplasia|gastric angiodysplasia|gastric vascular dysplasia											UMLS:C0744273|SCTID:424802006																		owl:Class
MONDO:0009926	biolink:NamedThing	autosomal recessive multiple pterygium syndrome	A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.	mondoexuq1wtf	pterygium colli syndrome|multiple pterygium syndrome Escobar type|multiple pterygium syndrome, autosomal recessive|pterygium universale|pterygium syndrome|multiple pterygium syndrome nonlethal type|multiple pterygium syndrome, Nonlethal type|Escobar variant multiple pterygium syndrome|autosomal recessive multiple pterygium syndrome|autosomal recessive non-lethal multiple pterygium syndrome|EVMPS|multiple pterygium syndrome|Escobar syndrome|multiple pterygium syndrome, ESCOBAR variant|pterygium Universale											OMIM:265000|SCTID:80773006|UMLS:CN203342|NCIT:C101039|ICD10:Q79.8|GARD:0007111|Orphanet:2990|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type				owl:Class
MONDO:0017415	biolink:NamedThing	multiple pterygium syndrome		mondoexuq1wtf	pterygium syndrome											ICD10:Q79.8|DOID:0080110|MESH:C537377|Orphanet:294060|SCTID:205819008|ICD9:755.8																		owl:Class
MONDO:0018885	biolink:NamedThing	orbital leiomyoma	Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.	mondoexuq1wtf												UMLS:C4305000|UMLS:CN205236|Orphanet:52994|ICD10:D31.6|SCTID:719045009																		owl:Class
MONDO:0018961	biolink:NamedThing	familial melanoma	Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.	mondoexuq1wtf	hereditary melanoma (disease)											ICD10:C43.8|ICD10:C43.0|NCIT:C8498|UMLS:C2314896|ICD10:C43.7|DOID:6846|ICD10:C43.3|ICD10:C43.4|ICD10:C43.6|ICD10:C43.5|ICD10:C43.2|GARD:0003460|Orphanet:618|ICD10:C43.1																		owl:Class
MONDO:0015263	biolink:NamedThing	Brugada syndrome	A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.	mondoexuq1wtf	SUNDS|Bangungut|Brugada type idiopathic ventricular fibrillation|right bundle branch block, ST segment elevation, and sudden death syndrome|Pokkuri death syndrome|idiopathic ventricular fibrillation, Brugada type|sudden unexplained nocturnal death syndrome|sudden unexpected nocturnal death syndrome|Brugada syndrome|dream disease											MedDRA:10059027|GARD:0001030|ICD9:746.89|ICD10:I49.8|SCTID:418818005|DOID:0050451|OMIMPS:601144|MESH:D053840|NCIT:C142891|UMLS:C1142166|Orphanet:130																		owl:Class
MONDO:0009319	biolink:NamedThing	pantothenate kinase-associated neurodegeneration	Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.	mondoexuq1wtf	Hallervorden-Spatz disease|brain iron accumulation type I syndrome|pantothenate kinase-associated neurodegeneration|neuroaxonal dystrophy, late infantile|neurodegeneration with brain iron accumulation 1|NBIA1|Hallervorden-Spatz syndrome|PKAN|pigmentary pallidal degeneration|Pkan neuroaxonal dystrophy, juvenile-onset|neurodegeneration with brain iron accumulation type 1											DOID:3981|SCTID:2992000|GARD:0006564|ICD9:333.0|NCIT:C84988|UMLS:C0018523|ICD10:G23.0|MESH:D006211|OMIM:234200|Orphanet:157850																		owl:Class
MONDO:0010561	biolink:NamedThing	Coffin-Lowry syndrome	Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.	mondoexuq1wtf	Coffin syndrome|CLS|Coffin-Lowry syndrome|lean spastic dwarfism|Coffin syndrome 1|dwarfism, lean spastic type|intellectual disability with osteocartilaginous abnormalities|COFFIN-Lowry syndrome|mental retardation with osteocartilaginous abnormalities											GARD:0006123|UMLS:C0265252|SCTID:15182000|MESH:C536435|ICD9:759.89|OMIM:303600|MESH:D038921|ICD10:Q87.0|NCIT:C84643|Orphanet:192|GARD:0008589|DOID:3783														https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome|https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1				owl:Class
MONDO:0010216	biolink:NamedThing	xeroderma pigmentosum group G	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.	mondoexuq1wtf	xeroderma pigmentosum 7|XP7|XP-G|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum, complementation group G|xeroderma pigmentosum group type G|ERCC5 xeroderma pigmentosum|XPG|xeroderma pigmentosum complementation group G|xeroderma pigmentosum type 7|XP group G|xeroderma pigmentosum caused by mutation in ERCC5|xeroderma pigmentosum VII|XP, Group G|xeroderma pigmentosum, complementation group type G					placement based on OMIM phenotypic series 214150.						MESH:C562593|ICD10:Q82.1|Orphanet:276267|UMLS:C0268141|GARD:0005629|NCIT:C3969|SCTID:36454001|DOID:0110849|OMIM:278780																		owl:Class
MONDO:0019600	biolink:NamedThing	xeroderma pigmentosum	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).	mondoexuq1wtf	melanosis lenticularis progressiva|atrophoderma pigmentosum|Kaposi disease|XP|angioma pigmentosum atrophicum|xeroderma of Kaposi|pigmented epitheliomatosis|xeroderma pigmentosa|xeroderma pigmentosum syndrome|Kaposi dermatosis											GARD:0007910|ICD10:Q82.1|SCTID:44600005|UMLS:C0043346|MedDRA:10048220|DOID:0050427|MESH:D014983|Orphanet:910|NCIT:C3452														https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum				owl:Class
MONDO:0003582	biolink:NamedThing	hereditary breast ovarian cancer syndrome	An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.	mondoexuq1wtf	breast-ovarian cancer, familial, susceptibility to|hereditary breast and ovarian cancer|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|hereditary breast and ovarian cancer syndrome|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|syndromes, HBOC|hereditary breast ovarian cancer|familial breast/ovarian cancer (BRCA1, BRCA2)|hereditary breast/ovarian cancer (BRCA1, BRCA2)|HBOC syndrome|familial breast and ovarian cancer syndrome|syndrome, HBOC|HBOC syndromes					Editor note: https://github.com/monarch-initiative/mondo/issues/84						NCIT:C8493|ICD10:C56|DC:0000638|SCTID:718220008|ICD10:C50|UMLS:C0677776|OMIMPS:604370|GARD:0012352|DOID:5683|Orphanet:145|MESH:D061325|GARD:0012351																		owl:Class
MONDO:0018364	biolink:NamedThing	malignant epithelial tumor of ovary	An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.	mondoexuq1wtf	malignant ovarian surface epithelial-stromal tumor|epithelial cancer of ovary|ovarian epithelial tumor, malignant|ovarian epithelial cancer|ovarian malignant epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|malignant ovarian epithelial tumor|ovarian stromal cancer					Editor note: check inference with carcinoma						MESH:C538090|NCIT:C40026|SCTID:254849005|DOID:2151|GARD:0009362|Orphanet:398934																		owl:Class
MONDO:0018805	biolink:NamedThing	choledochal cyst	Cystic dilatation of the hepatic duct or bile duct.	mondoexuq1wtf	congenital cystic dilatation of the biliary tract|congenital choledochal cyst											SCTID:398197009|ICD10:Q44.4|ICD9:751.69|DOID:899|COHD:4134570|MESH:D015529|Orphanet:480501																		owl:Class
MONDO:0002887	biolink:NamedThing	bile duct disease	A disease involving the bile duct.	mondoexuq1wtf	disease of bile duct|disease or disorder of bile duct|bile duct disorder|bile duct disease or disorder|disorder of bile duct|bile duct disease											DOID:4138|SCTID:118926004|NCIT:C96716|MESH:D001649|UMLS:C0005395																		owl:Class
MONDO:0021097	biolink:NamedThing	intraductal breast papilloma	A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.	mondoexuq1wtf	papilloma of breast|duct papilloma of breast|breast papilloma|intraductal papilloma of breast|duct papilloma of the breast|papilloma of the breast|intraductal breast papilloma|mammary duct papilloma|ductal breast papilloma|intraductal papilloma of the breast|breast duct papilloma											NCIT:C3863|SCTID:99571000119102|DOID:1626|SCTID:254848002|EFO:1000306																		owl:Class
MONDO:0002060	biolink:NamedThing	intraductal papilloma	An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.	mondoexuq1wtf	intraductal papilloma|duct adenoma|duct papilloma|intraductal papilloma (morphologic abnormality)|ductal papilloma											UMLS:C0206713|ICDO:8503/0|MESH:D018300|NCIT:C3785|DOID:1627																		owl:Class
MONDO:0001044	biolink:NamedThing	esophageal atresia	A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.	mondoexuq1wtf	imperforate esophagus|congenital atresia of esophagus|oesophageal atresia|congenital esophageal atresia|congenital imperforate esophagus|esophageal atresia (disease)|esophageal atresia		esophageal atresia (disease)									MESH:D004933|SCTID:26179002|NCIT:C87072|DOID:10485|GARD:0006381|HP:0002032|ICD9:750.3|ICD10:Q39.0																		owl:Class
MONDO:0009525	biolink:NamedThing	split hand-foot malformation 3	The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	mondoexuq1wtf	limb deficiencies distal with micrognathia|limb deficiencies, distal, with micrognathia|Shsf3|split-hand/foot malformation 3|chromosome 10q24 duplication syndrome|distal limb deficiencies with micrognathia|chromosome 10Q24 Duplication syndrome|SHFM3|10q24 microduplication syndrome|Buttiens Fryns syndrome|split hand-foot malformation type 3|Buttiens-Fryns syndrome|distal limb deficiencies-micrognathia syndrome|split-hand/foot malformation type 3											ICD10:Q92.3|ICD10:Q71.6|MESH:C565437|Orphanet:1307|DOID:0090025|NCIT:C75121|SCTID:722429003|GARD:0003252|OMIM:246560														https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia				owl:Class
MONDO:0007648	biolink:NamedThing	hereditary diffuse gastric adenocarcinoma	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.	mondoexuq1wtf	signet ring cell gastric carcinoma|gastric cancer, familial diffuse|signet cell adenocarcinoma|hereditary diffuse cancer of stomach|breast cancer, lobular|HDGC|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse gastric adenocarcinoma|FDGC|diffuse gastric cancer|signet ring gastric carcinoma|familial diffuse gastric cancer|hereditary diffuse gastric cancer|gastric cancer, hereditary diffuse|familial diffuse cancer of stomach					Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD						Orphanet:26106|GARD:0010900|DOID:0080763|UMLS:C1708349|NCIT:C43295|OMIM:137215|SCTID:716859000|ICD10:C16.9|GARD:0010334														https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer				owl:Class
MONDO:0015617	biolink:NamedThing	genetic gastro-esophageal disease		mondoexuq1wtf												Orphanet:165658|UMLS:CN199993																		owl:Class
MONDO:0015601	biolink:NamedThing	X-linked intellectual disability, van Esch type	X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.	mondoexuq1wtf	Van Esch-O'Driscoll syndrome|mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type|VEODS											OMIM:301030|SCTID:718914002|Orphanet:163976|UMLS:CN226711|ICD10:Q87.8																		owl:Class
MONDO:0013355	biolink:NamedThing	congenital dyserythropoietic anemia type 4	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.	mondoexuq1wtf	CDA type 4|CDA type IV|anemia, congenital dyserythropoietic, type IV|CDA IV|anemia, congenital dyserythropoietic, type 4|congenital dyserythropoietic anemia type 4|CDA, type 4|congenital dyserythropoietic anemia due to KLF1 mutation|CDA due to KLF1 mutation|CDAN4											SCTID:719453009|UMLS:C3150926|OMIM:613673|DOID:0111400|ICD10:D64.4|Orphanet:293825																		owl:Class
MONDO:0002702	biolink:NamedThing	ovarian cystadenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.	mondoexuq1wtf	ovarian cystadenocarcinoma|cystadenocarcinoma of the ovary|ovary cystadenocarcinoma|cystadenocarcinoma of ovary											SCTID:314191009|UMLS:C1096638|EFO:1001962|DOID:3605|NCIT:C5228																		owl:Class
MONDO:0017808	biolink:NamedThing	duplication of the pituitary gland		mondoexuq1wtf	hypophyseal duplication|Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome											UMLS:CN203774|ICD10:Q89.2|Orphanet:314621																		owl:Class
MONDO:0017090	biolink:NamedThing	midline cerebral malformation		mondoexuq1wtf	Midline brain malformation											ICD10:Q04.8|Orphanet:268926																		owl:Class
MONDO:0009837	biolink:NamedThing	choroid plexus papilloma	Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.	mondoexuq1wtf	choroid plexus papilloma|childhood choroid plexus papilloma|papilloma of the choroid plexus|choroid plexus papilloma NOS (morphologic abnormality)|childhood papilloma of choroid plexus|CPP|choroid plexus papilloma, no ICD-O subtype|papilloma of choroid plexus|papilloma, choroid plexus, benign|pediatric papilloma of choroid plexus|choroid plexus carcinoma											MESH:D020288|SCTID:425868004|OMIM:260500|GARD:0004214|DOID:2626|MedDRA:10008777|UMLS:C0205770|ONCOTREE:CPP|Orphanet:2807|EFO:1000177|ICD10:D33.0|NCIT:C3698|ICDO:9390/0																		owl:Class
MONDO:0013649	biolink:NamedThing	hypotrichosis 9	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.	mondoexuq1wtf	hypotrichosis type 9|hypt9|hypotrichosis 9|HYPT9											OMIM:614237|DOID:0110706|UMLS:C3280252																		owl:Class
MONDO:0000371	biolink:NamedThing	oral cavity carcinoma in situ	A in situ carcinoma that involves the oral cavity.	mondoexuq1wtf	stage 0 oral cavity cancer|carcinoma in situ of the mouth|stage 0 carcinoma of oral cavity|stage 0 oral cavity carcinoma|carcinoma in situ of the oral cavity|stage 0 oral cavity cancer aJCC v7|carcinoma in situ of oral cavity|stage 0 oral cavity cancer aJCC v6 and v7|stage 0 oral cavity cancer aJCC v6|stage 0 mouth carcinoma|carcinoma in situ of mouth|stage 0 carcinoma of mouth|oral cavity in situ carcinoma|mouth carcinoma in situ|stage 0 carcinoma of the oral cavity|stage 0 carcinoma of the mouth										MONDO:0021286	NCIT:C4587|SCTID:92660005|DOID:0050610|UMLS:C0347073																		owl:Class
MONDO:0017608	biolink:NamedThing	dystrophic epidermolysis bullosa	Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other.	mondoexuq1wtf	epidermolysis bullosa, dermolytic|Dermolytic epidermolysis bullosa|epidermolysis bullosa dystrophica|DEB											ICD10:Q81.2|Orphanet:303|GARD:0002150																		owl:Class
MONDO:0019380	biolink:NamedThing	western equine encephalitis	An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.	mondoexuq1wtf	Western equine encephalitis virus infectious encephalitis|WEE|Western equine encephalitis virus caused infectious encephalitis|Western equine encephalomyelitis											DOID:10843|Orphanet:83593|EFO:0007546|GARD:0007888|NCIT:C85227|MESH:D020241|ICD9:062.1|MedDRA:10014614|ICD10:A83.1|SCTID:47523006|UMLS:C0153064														https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis				owl:Class
MONDO:0005643	biolink:NamedThing	Alphavirus infectious disease	Virus diseases caused by members of the alphavirus genus of the family togaviridae.	mondoexuq1wtf	Alphavirus disease or disorder|Alphavirus caused disease or disorder											UMLS:C0206752|MESH:D018354|EFO:0007142																		owl:Class
MONDO:0013772	biolink:NamedThing	congenital cataract-hearing loss-severe developmental delay syndrome		mondoexuq1wtf	CCHLND|congenital cataracts, hearing loss, and neurodegeneration|lethal neurodegenerative disorder due to copper transport defect|congenital cataract-deafness-severe developmental delay syndrome											Orphanet:300313|UMLS:C3280965|OMIM:614482																		owl:Class
MONDO:0010621	biolink:NamedThing	CHILD syndrome	CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	mondoexuq1wtf	ichthyosis, child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limb defects|child syndrome|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limbs defects											ICD10:Q87.8|Orphanet:139|SCTID:17608003|ICD9:759.89|OMIM:308050|MESH:C562515|UMLS:C0265267|GARD:0006039														https://rarediseases.info.nih.gov/diseases/6039/child-syndrome				owl:Class
MONDO:0011014	biolink:NamedThing	pleuropulmonary blastoma	A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.	mondoexuq1wtf	pediatric pulmonary blastoma|pleuropulmonary blastoma (morphologic abnormality)|PPB|pleuropulmonary blastoma|PPB familial tumor and dysplasia syndrome|pulmonary blastoma of childhood|childhood pulmonary blastoma											NCIT:C5669|Orphanet:64742|ONCOTREE:PPB|ICD10:C34.3|ICD10:C34.9|EFO:0009052|SCTID:707670009|UMLS:CN072455|ICD10:C34.2|DOID:4769|MESH:C537516|ICD10:C34.1|GARD:0008757|OMIM:601200|ICD9:162.9|ICDO:8973/3|UMLS:C1266144																		owl:Class
MONDO:0017480	biolink:NamedThing	amelia of lower limb, unilateral		mondoexuq1wtf												Orphanet:295057|ICD10:Q72.0																		owl:Class
MONDO:0017438	biolink:NamedThing	amelia of lower limb	A non-syndromic amelia that involves the hindlimb.	mondoexuq1wtf	non-syndromic amelia of hindlimb|hindlimb non-syndromic amelia											ICD10:Q72.0|HP:0009818|Orphanet:294969|SCTID:265798000																		owl:Class
MONDO:0001123	biolink:NamedThing	chronic sphenoidal sinusitis	Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	mondoexuq1wtf	chronic sphenoid sinusitis|sphenoid sinusitis, chronic|sphenoidal sinus-chr.											ICD10:J32.3|NCIT:C34480|DOID:10793|UMLS:C0008712|ICD9:473.3|SCTID:38961000|COHD:134661																		owl:Class
MONDO:0006031	biolink:NamedThing	chronic rhinosinusitis	Chronic form of sinusitis.	mondoexuq1wtf	chronic sinusitis|sinusitis, chronic											ICD9:473.8|NCIT:C35151|ICD9:473.9|PMID:25838086|EFO:1000024|SCTID:40055000|UMLS:C0149516																		owl:Class
MONDO:0007259	biolink:NamedThing	craniofaciofrontodigital syndrome	Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	mondoexuq1wtf	craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome											MESH:C567298|UMLS:C2676032|ICD10:Q87.0|SCTID:763320005|Orphanet:363705|OMIM:114620																		owl:Class
MONDO:0007893	biolink:NamedThing	Noonan syndrome with multiple lentigines	Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.	mondoexuq1wtf	familial multiple lentigines syndrome|lentiginosis profusa syndrome|generalized lentiginosis|LEOPARD syndrome|Gorlin syndrome II|progressive cardiomyopathic lentiginosis|Cardiomyopathic lentiginosis|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|Moynahan syndrome|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes											DOID:14291|NCIT:C84820|OMIMPS:151100|UMLS:C0175704|SCTID:111306001|ICD10:Q87.1|GARD:0001100|MedDRA:10062901|ICD9:709.09|UMLS:CN074218|MESH:D044542|Orphanet:500																		owl:Class
MONDO:0010773	biolink:NamedThing	myopathy and diabetes mellitus		mondoexuq1wtf	mitochondrial myopathy, lipid type|mitochondrial myopathy with diabetes											UMLS:C1839028|OMIM:500002|Orphanet:2596|MESH:C564026|GARD:0003881|ICD10:G71.3																		owl:Class
MONDO:0016794	biolink:NamedThing	maternally-inherited mitochondrial myopathy		mondoexuq1wtf												ICD10:G71.3|Orphanet:254788																		owl:Class
MONDO:0003686	biolink:NamedThing	apocrine sweat gland neoplasm	A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.	mondoexuq1wtf	apocrine tumor|apocrine tumor of the skin|apocrine sweat gland neoplasm (disease)|apocrine tumor of skin|tumor of apocrine sweat gland|apocrine skin neoplasm|apocrine neoplasm|apocrine neoplasm of the skin|neoplasm of apocrine sweat gland|apocrine neoplasm of skin|apocrine skin tumor|apocrine sweat gland tumor											NCIT:C6798|UMLS:C1332318|DOID:5876																		owl:Class
MONDO:0002381	biolink:NamedThing	sweat gland neoplasm	A benign or malignant neoplasm arising from the sweat glands.	mondoexuq1wtf	sweat gland neoplasm (disease)|tumor of sweat gland|neoplasm of sweat gland|sweat gland tumor NOS (morphologic abnormality)|sweat gland tumor (morphologic abnormality)|sweat gland neoplasm|sweat gland tumor|neoplasm of the sweat gland|tumor of the sweat gland|sweat gland neoplasms										MONDO:0021219	ICD9:239.2|DOID:2664|SCTID:126490003|NCIT:C3398|EFO:1001204|UMLS:C0038987|MESH:D013544|ICDO:8400/1																		owl:Class
MONDO:0000342	biolink:NamedThing	O'nyong'nyong fever	An disease or disorder caused by infection with O'nyong-nyong virus.	mondoexuq1wtf	O'nyong-nyong virus caused disease or disorder|O'nyong-nyong virus disease or disorder|O'nyong-nyong virus infectious disease											UMLS:C0276286|SCTID:85579005|DOID:0050516|ICD10:A92.1|MEDGEN:547234																		owl:Class
MONDO:0008345	biolink:NamedThing	idiopathic pulmonary fibrosis	Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.	mondoexuq1wtf	fibrosing alveolitis, cryptogenic|idiopathic pulmonary fibrosis, familial|fibrosing alveolitis|cryptogenic fibrosing alveolitis|Hamman-rich disease|fibrocystic pulmonary dysplasia|IPF|familial idiopathic pulmonary fibrosis|CFA|pulmonary fibrosis, idiopathic|UIP|interstitial pneumonitis, usual|usual interstitial pneumonia											Orphanet:2032|EFO:0000768|MedDRA:10021240|MESH:D054990|ICD10:J84.112|COHD:45763750|SCTID:196125002|GARD:0008609|ICD10:J84.1|OMIM:178500|ICD9:516.31|NCIT:C35716|DOID:0050156														https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis				owl:Class
MONDO:0014263	biolink:NamedThing	8q24.3 microdeletion syndrome		mondoexuq1wtf	VRJS|Verheij syndrome|chromosome 8Q24.3 deletion syndrome											UMLS:C3810023|Orphanet:508488|OMIM:615583|GARD:0012814																		owl:Class
MONDO:0004259	biolink:NamedThing	endocervical carcinoma	A carcinoma that arises from epithelial cells of the endocervix.	mondoexuq1wtf	carcinoma of the endocervix|endocervical carcinoma|carcinoma of endocervix|endocervix carcinoma|endocervical cancer|endocervical adenocarcinoma											SCTID:372098004|UMLS:C1299237|NCIT:C28327|DOID:7519																		owl:Class
MONDO:0005131	biolink:NamedThing	cervical carcinoma	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.	mondoexuq1wtf	cervix carcinoma|carcinoma of cervix|cervix uteri carcinoma|cervical cancer|cancer of the uterine cervix|uterine cervix carcinoma|cervix cancer|carcinoma of the uterine cervix|carcinoma of the cervix|carcinoma of cervix uteri|carcinoma of the cervix uteri|uterine cervix cancer|cervical carcinoma|cancer of cervix|cervical cancer, NOS|cancer of uterine cervix|carcinoma cervix uteri|cancer of the cervix|carcinoma of uterine cervix											SCTID:285432005|EFO:0001061|NCIT:C9039|DOID:2893|UMLS:C0302592																		owl:Class
MONDO:0009080	biolink:NamedThing	split hand-foot malformation 1 with sensorineural hearing loss	Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	mondoexuq1wtf	split hand-split foot-deafness syndrome|congenital deafness with split hands and feet|SHFM1D|split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|deafness, congenital, with split hands and feet					DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features						OMIM:220600|DOID:0090024|SCTID:723611008|Orphanet:71271|UMLS:C1857344|ICD10:Q87.2|MESH:C565647																		owl:Class
MONDO:0013684	biolink:NamedThing	vesicoureteral reflux 6		mondoexuq1wtf	VUR6|vesicoureteral reflux 6											OMIM:614319|UMLS:C3280441																		owl:Class
MONDO:0054549	biolink:NamedThing	peroxisome biogenesis disorder 10B		mondoexuq1wtf	peroxisome biogenesis disorder 10B|PBD10B											OMIM:617370														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100261	biolink:NamedThing	peroxisome biogenesis disorder due to PEX3 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX3 defect|PEX3 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0018544	biolink:NamedThing	adrenoleukodystrophy	A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.	mondoexuq1wtf	encephalitis periaxialis concentrica|X-linked adrenoleukodystrophy|encephalitis periaxialis, Schilder's|Bronze-Schilder disease|adrenoleukodystrophy|ALD|sudanophilic cerebral sclerosis|ABCD1 deficiency|adrenomyeloneuropathy, adult|diffuse cerebral sclerosis of Schilder|X-linked ALD|Siemerling-Creutzfeldt disease|diffuse sclerosis|X-ALD|adrenoleukodystrophy, X-linked											ICD10:E71.529|GARD:0005758|MedDRA:10051260|ICD10:G37.0|ICD9:341.1|MESH:D000326|OMIM:300100|ICD10:E71.3|DOID:10588|ICD10:E71.52|NCIT:C61252|Orphanet:43														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100372	biolink:NamedThing	disorder of peroxisomal transporter	Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.	mondoexuq1wtf	disorder of peroxisomal transporter defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0018203	biolink:NamedThing	LMNA-related cardiocutaneous progeria syndrome	A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.	mondoexuq1wtf	LCPS											UMLS:CN204714|ICD10:E34.8|Orphanet:363618																		owl:Class
MONDO:0001918	biolink:NamedThing	epiphora due to excess lacrimation		mondoexuq1wtf												COHD:441855|ICD10:H04.21|DOID:14244|UMLS:C0155233|SCTID:31788005|ICD9:375.21																		owl:Class
MONDO:0013938	biolink:NamedThing	peroxisome biogenesis disorder 7A (Zellweger)		mondoexuq1wtf	PBD7A|peroxisome biogenesis disorder, complementation group A|peroxisome biogenesis disorder 7A (Zellweger)|peroxisome biogenesis disorder, complementation group 8											DOID:0080482|OMIM:614872|UMLS:C3888385														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100271	biolink:NamedThing	peroxisome biogenesis disorder due to PEX26 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX26 defect|PEX26 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0012350	biolink:NamedThing	complement factor H deficiency		mondoexuq1wtf	factor H deficiency|CFHD|complement factor H deficiency|Cfh deficiency											MESH:C562875|OMIM:609814|SCTID:234622003|ICD9:279.8																		owl:Class
MONDO:0016244	biolink:NamedThing	atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.	mondoexuq1wtf	HUS, atypical|non-diarrhea-associated hemolytic uremic syndrome|D-minus hemolytic uremic syndrome (D-HUS)|hemolytic-uremic syndrome without diarrhea|D-HUS|atypical HUS|atypical hemolytic uremic syndrome|aHUS											ICD10:D58.8|DOID:0080301|MESH:D065766|Orphanet:2134|UMLS:C2931788|GARD:0006240|GARD:0008702|NCIT:C123223																		owl:Class
MONDO:0001933	biolink:NamedThing	endocrine pancreas disease	A disease involving the endocrine pancreas.	mondoexuq1wtf	endocrine pancreas disease or disorder|endocrine pancreas disease|disease or disorder of endocrine pancreas|disease of endocrine pancreas|endocrine pancreas disorder|disorder of islets of langerhans|disorder of endocrine pancreas|disorder of pancreatic islets											ICD10:E16|SCTID:17346000|ICD9:251|DOID:1428|NCIT:C27067|UMLS:C0271633																		owl:Class
MONDO:0002356	biolink:NamedThing	pancreas disease	A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.	mondoexuq1wtf	disease or disorder of pancreas|diseases, pancreatic|disease of pancreas|pancreas disease|pancreas disease or disorder|disorder of pancreas|pancreatic disorder|pancreatic disease|disease, pancreatic											ICD9:577.9|MESH:D010182|ICD10:K86.8|SCTID:3855007|NCIT:C26842|ICD9:577.8|DOID:26																		owl:Class
MONDO:0012459	biolink:NamedThing	hypertension, essential, susceptibility to, 6		mondoexuq1wtf	hypertension, essential, kidney function-related|Hyt6|hypertension, essential, susceptibility to, 6|hypertension, essential, susceptibility to, type 6											OMIM:610262																		owl:Class
MONDO:0016966	biolink:NamedThing	partial trisomy of the long arm of chromosome 16		mondoexuq1wtf	Duplication 16q|partial trisomy 16q|trisomy 16q|partial trisomy of the long arm of chromosome type 16|partial trisomy of chromosome 16q|partial duplication of the long arm of chromosome 16|chromosome 16q duplication|partial duplication of chromosome 16q|16q duplication|16q trisomy											MESH:C538042|GARD:0005316|Orphanet:262959|UMLS:CN036363																		owl:Class
MONDO:0016934	biolink:NamedThing	partial duplication of chromosome 16		mondoexuq1wtf	partial trisomy of chromosome 16|partial duplication of chromosome type 16											Orphanet:262672|SCTID:726355001																		owl:Class
MONDO:0011059	biolink:NamedThing	holoprosencephaly-craniosynostosis syndrome	Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.	mondoexuq1wtf	holoprosencephaly craniosynostosis|Genoa syndrome|holoprosencephaly, SEMILOBAR, with craniosynostosis|Semilobar holoprosencephaly and primary craniosynostosis|Camero-Lituania-Cohen syndrome|camera Lituania Cohen syndrome											UMLS:C1832424|Orphanet:2163|GARD:0002454|MESH:C537684|SCTID:715434005|OMIM:601370|ICD10:Q04.2																		owl:Class
MONDO:0009670	biolink:NamedThing	lethal congenital contracture syndrome 1	Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.	mondoexuq1wtf	Lccs|lethal autosomal recessive syndrome of multiple congenital contractures|LCCS1|lethal congenital contracture syndrome caused by mutation in GLE1|GLE1 lethal congenital contracture syndrome|multiple contracture syndrome, Finnish type|Herva disease|lethal congenital contracture syndrome 1|lethal congenital contracture syndrome type 1											DOID:0060559|ICD10:Q68.8|SCTID:715418007|UMLS:C1854664|Orphanet:1486|OMIM:253310|MESH:C537194|GARD:0003227																		owl:Class
CL:0002481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009606	biolink:NamedThing	methemoglobinemia due to deficiency of methemoglobin reductase		mondoexuq1wtf	methemoglobinemia due to deficiency of methemoglobin reductase|methemoglobinemia, congenital, autosomal recessive|NADH cytochrome B5 reductase deficiency|methemoglobinemia, type 2|methemoglobinemia, type 1|NADH-cytochrome B5 reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH diaphorase deficiency|NADH-cytochrome B5 reductase deficiency, type 1|NADH-dependent methemoglobin reductase deficiency|NADH methemoglobin reductase deficiency											OMIM:250800|GARD:0003909																		owl:Class
MONDO:0018963	biolink:NamedThing	hereditary methemoglobinemia	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	mondoexuq1wtf	hereditary methemoglobinemia|autosomal recessive methemoglobinemia|congenital methemoglobinemia											SCTID:267550008|GARD:0002659|MESH:C580280|Orphanet:621|UMLS:C0272087|ICD10:D74.0|NCIT:C98898																		owl:Class
MONDO:0019122	biolink:NamedThing	idiopathic acute eosinophilic pneumonia	Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.	mondoexuq1wtf	Loeffler syndrome|IAEP|Löffler syndrome|pulmonary infiltrates with eosinophilia|Loffler's syndrome|Loffler syndrome|Loeffler's pneumonia											SCTID:64936001|UMLS:C0242459|GARD:0000107|ICD10:J82|DOID:9503|UMLS:C4518469|NCIT:C35301|Orphanet:724|GARD:0000519|UMLS:CN227574																		owl:Class
MONDO:0011895	biolink:NamedThing	idiopathic hypereosinophilic syndrome		mondoexuq1wtf	hypereosinophilic syndrome, idiopathic|HES											Orphanet:3260|ICD10:D47.5|OMIM:607685|UMLS:C0206141|SCTID:423294001																		owl:Class
MONDO:0011093	biolink:NamedThing	mucopolysaccharidosis type 9	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.	mondoexuq1wtf	mucopolysaccharidosis IX|mucopolysaccharidosis, type IX|mucopolysaccharidosis type 9|hyaluronidase deficiency|mucopolysaccharidosis, type 9|MPS9|MPSIX|mucopolysaccharidosis type IX|MPS 9											OMIM:601492|DOID:0050809|SCTID:124473006|NCIT:C129073|ICD9:277.6|ICD10:E76.2|Orphanet:67041|MESH:C563209|UMLS:C1291490																		owl:Class
MONDO:0019249	biolink:NamedThing	mucopolysaccharidosis	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.	mondoexuq1wtf	mucopolysaccharidoses|MPS|mucopolysaccharidosis											ICD10:E76.0|ICD10:E76.1|COHD:433446|ICD9:277.5|MedDRA:10028093|UMLS:C0026703|Orphanet:79213|MESH:D009083|DOID:12798|ICD10:E76.2|SCTID:11380006|OMIMPS:607014|NCIT:C61259|GARD:0007065|ICD10:E76.3														https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis				owl:Class
MONDO:0044699	biolink:NamedThing	SIN3A-related intellectual disability syndrome		mondoexuq1wtf												Orphanet:500163																		owl:Class
MONDO:0010442	biolink:NamedThing	46,XX sex reversal 3		mondoexuq1wtf	46,XX Sex reversal type 3|chromosome Xq26 Duplication syndrome|46,XX SEX reversal 3|chromosome Xq26 deletion syndrome|46,XX Sex reversal, Sox3-related|SRXX3|46,XX sex reversal 3											OMIM:300833|DOID:0111762|UMLS:C3151782																		owl:Class
MONDO:0014569	biolink:NamedThing	lethal congenital contracture syndrome 7	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.	mondoexuq1wtf	lethal congenital contracture syndrome caused by mutation in CNTNAP1|LCCS7|lethal congenital contracture syndrome type 7|CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome 7											UMLS:C4225386|OMIM:616286																		owl:Class
MONDO:0009036	biolink:NamedThing	cardiocranial syndrome, Pfeiffer type	Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).	mondoexuq1wtf	Cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer-Singer-Zschiesche syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Pfeiffer-type cardiocranial syndrome|Pfeiffer Cardiocranial syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|craniosynostosis-congenital heart disease-intellectual disability syndrome											UMLS:C1857495|ICD10:Q87.8|Orphanet:2872|MESH:C535578|GARD:0008586|OMIM:218450|SCTID:720606005																		owl:Class
MONDO:0005296	biolink:NamedThing	sleep apnea syndrome	A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.	mondoexuq1wtf	sleep disordered breathing|hypopneas, sleep|apnea, sleep|hypersomnia with periodic respiration|apnea syndromes, sleep|SDB|mixed central and obstructive sleep apnea|mixed sleep apnea|sleep apnea, mixed central and obstructive|sleep apnea|breathing-related sleep disorder|sleep hypopnea|sleep-disordered breathing|mixed sleep Apneas|sleep hypopneas|sleep apnea syndrome|Apneas, sleep|apnea syndrome, sleep|sleep apnea, mixed|breathing, sleep-disordered|sleep Apneas|hypopnea, sleep|sleep Apneas, mixed											ICD9:780.57|EFO:0003877|NCIT:C148023|SCTID:111489007|ICD10:G47.3|SCTID:73430006|DOID:0050847|HP:0010535|MESH:D012891																		owl:Class
MONDO:0021525	biolink:NamedThing	benign neoplasm of corpus uteri	A benign neoplasm that involves the body of uterus.	mondoexuq1wtf	benign tumor of corpus uteri|benign tumor of the body of uterus|benign tumor of the uterine body|benign neoplasm of uterine corpus|benign corpus uteri tumor|body of uterus benign neoplasm|benign tumor of body of uterus|benign tumor of the uterine corpus|benign neoplasm of body of uterus|benign corpus uteri neoplasm|benign neoplasm of the uterine corpus|benign neoplasm of the uterine body|benign tumor of the corpus uteri|benign neoplasm of the body of uterus|benign uterine corpus neoplasm|benign neoplasm of uterine body|benign tumor of uterine body|benign neoplasm of the corpus uteri|benign tumor of uterine corpus|benign uterine corpus tumor|benign uterine body tumor|benign uterine body neoplasm											ICD9:219.1|UMLS:C0153998|SCTID:92021007|NCIT:C3608																		owl:Class
MONDO:0012027	biolink:NamedThing	autoimmune disease, susceptibility to, 2		mondoexuq1wtf	autoimmune disease, susceptibility to, 2|AIS2|autoimmune disease susceptibility locus, chromosome 7-related|vitiligo-associated multiple autoimmune disease susceptibility 3											OMIM:608391																		owl:Class
MONDO:0004455	biolink:NamedThing	classic congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.	mondoexuq1wtf	classic congenital mesoblastic nephroma											UMLS:C1516475|NCIT:C39814|DOID:8083																		owl:Class
MONDO:0017043	biolink:NamedThing	congenital mesoblastic nephroma	A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.	mondoexuq1wtf	congenital mesoblastic nephroma|mesoblastic nephroma|CMn|stromal nephroma, malignant											UMLS:C1332965|ICDO:8960/1|GARD:0001493|Orphanet:2665|MedDRA:10070665|ICD10:D41.0|DOID:4773|NCIT:C6569														https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma				owl:Class
MONDO:0012193	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1G	Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	mondoexuq1wtf	muscular dystrophy limb-girdle type 1G|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G|LGMD1G|HNRNPDL autosomal dominant limb-girdle muscular dystrophy|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL											Orphanet:55596|OMIM:609115|ICD10:G71.0|SCTID:719990003|GARD:0012531|DOID:0110306|MESH:C563794																		owl:Class
MONDO:0015151	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal dominant	Autosomal dominant form of limb-girdle muscular dystrophy.	mondoexuq1wtf	autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, autosomal dominant|limb-girdle muscular dystrophy, autosomal dominant											OMIMPS:159000|OMIMPS:603511|UMLS:CN228919|Orphanet:102014|ICD10:G71.0|UMLS:CN043626|DOID:0110273																		owl:Class
MONDO:0024568	biolink:NamedThing	infantile liver failure syndrome 1	Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.	mondoexuq1wtf	infantile liver failure syndrome type 1|infantile liver failure caused by mutation in Lars|Lars infantile liver failure|infantile liver failure caused by mutation in LARS|LARS infantile liver failure|infantile liver failure syndrome 1|ILFS1|acute infantile liver failure - multisystemic involvement syndrome										MONDO:0014188	UMLS:C3809522|ICD10:K72.0|Orphanet:370088|GARD:0013114|OMIM:615438																		owl:Class
MONDO:0014936	biolink:NamedThing	ZTTK syndrome		mondoexuq1wtf	ZTTK multiple congenital anomalies-mental retardation syndrome|TOKIMS|ZTTK multiple congenital anomalies-intellectual disability syndrome|Zhu-Tokita-Takenouchi-Kim syndrome|ZTTKS|brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|Tokita-Kim syndrome|ZTTK syndrome											OMIM:617140|Orphanet:500150|UMLS:C4310696																		owl:Class
MONDO:0005172	biolink:NamedThing	skeletal system disease	A disease involving the skeletal system.	mondoexuq1wtf	disease of bone and/or joint|skeletal system disease|disorder of skeletal system|osteoarthropathy|disease or disorder of skeletal system|skeletal system disease or disorder|disease of skeletal system											UMLS:C0263661|SCTID:88230002|EFO:0002461																		owl:Class
MONDO:0011727	biolink:NamedThing	anorexia nervosa, susceptibility to, 1		mondoexuq1wtf	anorexia nervosa, susceptibility to|anon|AN|anorexia nervosa, susceptibility to, 1|ANON1											OMIM:606788|UMLS:CN244557																		owl:Class
MONDO:0010481	biolink:NamedThing	angioedema	Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.	mondoexuq1wtf	giant Urticarias|angioneurotic Edemas|angioedemas|edema, angioneurotic|giant urticaria|Urticarias, giant|Edemas, angioneurotic|urticaria, giant|Quinckes edema|angioneurotic edema|edema, Quincke's|Quincke edema|angioneurotic oedema|Quincke's edema											ICD10:T78.3|DOID:1558|HP:0100665|EFO:0005532|ICD9:995.1|COHD:432791|MESH:D000799|CSP:2716-7007|SCTID:400075008																		owl:Class
MONDO:0012348	biolink:NamedThing	maturity-onset diabetes of the young type 8	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.	mondoexuq1wtf	diabetes and pancreatic exocrine dysfunction|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|type 8 maturity-onset diabetes of the young|MODY8|maturity-onset diabetes of the young type 8 with exocrine dysfunction|maturity-onset diabetes of the young, type 8|DPED|MODY type 8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|diabetes mellitus MODY type 8|diabetes-pancreatic exocrine dysfunction syndrome|diabetes and pancreatic exocrine|CEL maturity-onset diabetes of the young (disease)											DOID:0111105|GARD:0010662|MESH:C565225|SCTID:609575003|OMIM:609812														https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8				owl:Class
MONDO:0019918	biolink:NamedThing	maternal uniparental disomy of chromosome 21		mondoexuq1wtf	UPD(21)mat|maternal uniparental disomy of chromosome type 21											ICD10:Q99.8|Orphanet:96187																		owl:Class
MONDO:0007924	biolink:NamedThing	Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.	mondoexuq1wtf	BRRS|macrocephaly, multiple lipomas, and hemangiomata|Ruvalcaba -Myhre-Smith syndrome|Bannayan syndrome|macrocephaly with multiple lipomas and hemangiomas|Riley-Smith syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|Bannayan-RILEY-Ruvalcaba syndrome|Ruvalcaba-MYHRE-SMITH syndrome|Bannayan-Zonana syndrome|macrocephaly pseudopapilledema and multiple hemangiomas|BZS|macrocephaly multiple lipomas and hemangiomata|RMSS|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|Ruvalcaba-Myhre-Smith syndrome|Bannayan-Riley-Ruvalcaba syndrome											NCIT:C3939|OMIM:153480|ICD9:759.6|ICD10:Q87.8|UMLS:C0265326|Orphanet:109|GARD:0005887|SCTID:21984008|DOID:0050657														https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome				owl:Class
MONDO:0019613	biolink:NamedThing	non-functioning pituitary adenoma	A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.	mondoexuq1wtf	non-functioning adenoma of the pituitary gland|functionless adenoma of pituitary gland|non-functioning adenoma of the pituitary|non-secretory adenoma of the pituitary|silent pituitary gland adenoma|non-functioning pituitary adenoma|non-functioning pituitary gland adenoma|non-secretory adenoma of pituitary gland|non-secretory pituitary gland adenoma|functionless adenoma of the pituitary gland|non-secretory adenoma of the pituitary gland|non-secretory pituitary adenoma|functionless pituitary adenoma|non-functioning adenoma of pituitary|functionless pituitary gland adenoma|functionless adenoma of the pituitary|nonfunctional pituitary gland adenoma|non-functioning adenoma of pituitary gland|NFPA|functionless adenoma of pituitary|non-secretory adenoma of pituitary											Orphanet:91349|ICD10:D35.2|DOID:5715|SCTID:254962005|EFO:0008516|NCIT:C4348																		owl:Class
MONDO:0003603	biolink:NamedThing	non-functioning pituitary gland neoplasm	A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.	mondoexuq1wtf	non-functioning pituitary gland neoplasm|non-functioning tumor of pituitary gland|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning endocrine neoplasm of pituitary gland|non-functioning tumor of pituitary|non-functioning pituitary tumor|non-functioning neoplasm of the pituitary|non-functioning tumor of the pituitary gland|pituitary gland non-functioning endocrine neoplasm|non-functioning pituitary neoplasm|Nonfunctioning pituitary tumor|non-functioning pituitary gland tumor|non-functioning neoplasm of pituitary|non-functioning neoplasm of pituitary gland|non-functioning neoplasm of the pituitary gland											NCIT:C4009|SCTID:448563005																		owl:Class
MONDO:0002674	biolink:NamedThing	stricture or kinking of ureter		mondoexuq1wtf												DOID:3508|ICD9:593.3																		owl:Class
MONDO:0016307	biolink:NamedThing	Niemann-Pick disease type C, severe early infantile neurologic onset		mondoexuq1wtf												UMLS:CN201113|Orphanet:216975|ICD10:E75.2																		owl:Class
MONDO:0020641	biolink:NamedThing	respiratory tract neoplasm	A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.	mondoexuq1wtf	neoplasms, respiratory tract|tract neoplasms, respiratory|tract neoplasm, respiratory|respiratory tract tumor|neoplasm of respiratory tract|neoplasm of the respiratory tract|respiratory system neoplasm|tumor of respiratory tract|neoplasm, respiratory tract|respiratory tract neoplasm|tumor of the respiratory tract											EFO:0003853|SCTID:126667002|MESH:D012142|NCIT:C3355																		owl:Class
MONDO:0010264	biolink:NamedThing	X-linked adrenal hypoplasia congenita	A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.	mondoexuq1wtf	cytomegalic congenital adrenal hypoplasia|adrenal hypoplasia congenita|congenital adrenal hypoplasia|X-linked congenital adrenal hypoplasia|X-linked AHC|adrenal hypoplasia, congenital|adrenal hypoplasia, congenital, with precocious puberty|AHC|adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|Addison disease, X-linked|AHC with HHG|AHC with isolated gonadotropin deficiency|cytomegalic adrenocortical hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|mineralocorticoid deficiency, isolated											ICD10:E27.1|SCTID:93235007|UMLS:C0342482|Orphanet:95702|OMIM:300200|DOID:0080156|GARD:0000555|NCIT:C123725																		owl:Class
MONDO:0009692	biolink:NamedThing	primary myelofibrosis	Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.	mondoexuq1wtf	myelofibrosis|myeloid metaplasia|primary myelofibrosis|idiopathic bone marrow fibrosis|myelosclerosis with myeloid metaplasia|aleukemic myelosis|bone marrow fibrosis|myelosclerosis|idiopathic myelofibrosis|Agnogenic myeloid metaplasia|CIMF|AMM|chronic idiopathic myelofibrosis|osteomyelofibrosis|myelofibrosis with myeloid metaplasia|megakaryocytic myelosclerosis											UMLS:C2355576|ICD10:D75.81|ICD9:238.76|ICD9:289.83|Orphanet:824|UMLS:C0001815|NCIT:C2862|ICDO:9961/3|COHD:133169|OMIM:254450|EFO:0002430|DOID:4971|ONCOTREE:PMF|GARD:0008618|UMLS:C0948968|MESH:D055728|ICD10:D47.4																		owl:Class
MONDO:0016073	biolink:NamedThing	syndromic microphthalmia	A microphthalmia that is part of a larger syndrome.	mondoexuq1wtf	syndromic microphthalmia|syndrome associated with microphthalmia|microphthalmia, syndromic											Orphanet:202948|UMLS:CN226833|DC:0000280|OMIMPS:309800|DOID:0080636																		owl:Class
MONDO:0021129	biolink:NamedThing	microphthalmia	Congenital or developmental anomaly in which the eyeballs are abnormally small.	mondoexuq1wtf	microphthalmos|microphthalmia|nanophthalmos|simple microphthalmos											OMIMPS:600165|DOID:10629|MESH:D008850|EFO:0005569|ICD10:Q11.2|COHD:376512|HP:0000568|SCTID:204108000|ICD9:743.10|NCIT:C98989|ICD9:743.11|ICD9:743.1																		owl:Class
MONDO:0032675	biolink:NamedThing	myasthenic syndrome, congenital, 25, presynaptic		mondoexuq1wtf	MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC|CMS25											OMIM:618323																		owl:Class
MONDO:0018940	biolink:NamedThing	congenital myasthenic syndrome	Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.	mondoexuq1wtf	erb-Goldflam syndrome|myasthenic syndrome, congenital|myasthenia gravis congenital|familial limb-girdle myasthenia|congenital myasthenia|myasthenia gravis pseudoparalytica|congenital MG|CMS											GARD:0000098|MESH:D020294|SCTID:230672006|UMLS:C0751882|NCIT:C84647|ICD10:G70.2|OMIMPS:601462|GARD:0011902|ICD9:V17.89|DOID:3635|Orphanet:590|ICD9:358.00														https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome				owl:Class
MONDO:0007483	biolink:NamedThing	dyschromatosis symmetrica hereditaria	Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.	mondoexuq1wtf	DSH1|familial reticulate acropigmentation of Dohi|dyschromatosis symmetrica hereditaria|RAD|DSH|acropigmentation of Dohi|reticulate acropigmentation of Dohi|symmetric dyschromatosis of the extremities|dyschromatosis symmetrica hereditaria 1											SCTID:239085000|DOID:0060257|MESH:C535729|OMIM:127400|ICD10:L81.8|EFO:0008878|UMLS:C0406775|Orphanet:41|GARD:0000334|NCIT:C118435																		owl:Class
MONDO:0012961	biolink:NamedThing	type 1 diabetes mellitus 23	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.	mondoexuq1wtf	IDDM23|insulin-dependent diabetes mellitus 23|diabetes mellitus, insulin-dependent, 23											MESH:C567233|OMIM:612622|ICD10:E10|DOID:0110760|UMLS:C2675472																		owl:Class
MONDO:0023193	biolink:NamedThing	Friedman Goodman syndrome		mondoexuq1wtf												GARD:0002387														https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome				owl:Class
MONDO:0043759	biolink:NamedThing	abdominal ectopic pregnancy	Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.	mondoexuq1wtf	intra-abdominal pregnancy|abdomen ectopic pregnancy|abdominal Pregnancies|abdominal pregnancy|Pregnancies, abdominal|ectopic pregnancy of abdomen											SCTID:82661006|NCIT:C92921|MESH:D011269																		owl:Class
MONDO:0044965	biolink:NamedThing	abdominal and pelvic region disorder	A disease or disorder that involves the abdominal segment of trunk.	mondoexuq1wtf	disease of abdominal segment of trunk|disorder of abdominal segment of trunk|abdominal segment of trunk disease|disease or disorder of abdominal segment of trunk|abdominal segment of trunk disease or disorder											SCTID:609618002|UMLS:C3661988																		owl:Class
MONDO:0016125	biolink:NamedThing	infectious, fungal or parasitic myopathy		mondoexuq1wtf												ICD10:M60.0|Orphanet:206988																		owl:Class
MONDO:0005336	biolink:NamedThing	myopathy	A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.	mondoexuq1wtf						Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition						NCIT:C101216|ICD9:728.3|EFO:0004145|ICD10:M60-M63|ICD10:G72.9|UMLS:C0026848|ICD10:M62.9|DOID:423|ICD9:359.8|SCTID:129565002|ICD9:359.9																		owl:Class
MONDO:0003835	biolink:NamedThing	gastric cardia adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the cardia of stomach.	mondoexuq1wtf	adenocarcinoma of the cardia of the stomach|adenocarcinoma of the gastric cardia|adenocarcinoma of cardia of stomach|cardia of stomach adenocarcinoma|adenocarcinoma of gastric cardia											DOID:6271|UMLS:C1333762|NCIT:C5247																		owl:Class
MONDO:0003834	biolink:NamedThing	gastric cardia carcinoma	A carcinoma that arises from epithelial cells of the cardia of stomach.	mondoexuq1wtf	cardia of stomach carcinoma|gastric cardia (stomach) cancer|carcinoma of cardia of stomach|carcinoma of the gastric cardia|cancer of gastric cardia|carcinoma of gastric cardia|carcinoma of the cardia of the stomach|cancer of the gastric cardia|gastric cardia cancer											NCIT:C6794|EFO:1001252|UMLS:C1333763|DOID:6270																		owl:Class
MONDO:0001795	biolink:NamedThing	plantar wart	A wart in the plantar surface of the foot. It is caused by human papillomavirus.	mondoexuq1wtf	verruca plantaris|plantar wart											NCIT:C26913|ICD10:B07.0|DOID:13775|COHD:137785|ICD9:078.12|EFO:1002023|UMLS:C0042548|SCTID:63440008																		owl:Class
MONDO:0012624	biolink:NamedThing	acyl-CoA dehydrogenase 9 deficiency	Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.	mondoexuq1wtf	ACAD9 deficiency|mitochondrial Complex 1 deficiency due to Acad9 deficiency|acyl-CoA dehydrogenase 9 deficiency|mitochondrial complex I deficiency due to ACAD9 deficiency|Acad9 deficiency											UMLS:C1970173|OMIM:611126|SCTID:725046003|Orphanet:99901|ICD10:E71.3|MESH:C567006																		owl:Class
MONDO:0017718	biolink:NamedThing	mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes		mondoexuq1wtf												Orphanet:309136|UMLS:CN227185																		owl:Class
MONDO:0016511	biolink:NamedThing	infectious embryofetopathy		mondoexuq1wtf												Orphanet:232035																		owl:Class
MONDO:0013616	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 3	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.	mondoexuq1wtf	PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 3|PPNAD3|pigmented nodular adrenocortical disease, primary, 3|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|Cushing syndrome, adrenal, due to PPNAD3											UMLS:C3280094|OMIM:614190																		owl:Class
MONDO:0015999	biolink:NamedThing	primary pigmented nodular adrenocortical disease	Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).	mondoexuq1wtf	pigmented nodular adrenocortical disease, primary|PPNAD|primary pigmented nodular adrenal dysplasia|pigmented nodular adrenocortical disease											GARD:0010906|ICD10:E24.8|DC:0000357|UMLS:C4304832|Orphanet:189439|OMIMPS:610489|NCIT:C131196|SCTID:719274008|UMLS:CN200645|DOID:0060280														https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease				owl:Class
MONDO:0018133	biolink:NamedThing	attenuated Chédiak-Higashi syndrome	Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	mondoexuq1wtf	atypical Chédiak-Higashi syndrome|attenuated Chediak-Higashi syndrome|atypical Chediak-Higashi syndrome											UMLS:CN204519|UMLS:C4304022|ICD10:E70.3|Orphanet:352723|SCTID:720520009																		owl:Class
MONDO:0033838	biolink:NamedThing	radiation-induced plexopathy		mondoexuq1wtf												Orphanet:521123																		owl:Class
MONDO:0003386	biolink:NamedThing	bladder clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.	mondoexuq1wtf	clear cell adenocarcinoma of the urinary bladder|bladder clear cell adenocarcinoma|clear cell adenocarcinoma of urinary bladder|urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of bladder|clear cell adenocarcinoma of the bladder|bladder mesonephric adenocarcinoma											UMLS:C1332557|NCIT:C6179|DOID:5306																		owl:Class
MONDO:0002751	biolink:NamedThing	bladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urinary bladder	mondoexuq1wtf	adenocarcinoma of bladder|blad|adenocarcinoma of the bladder|adenocarcinoma of urinary bladder|bladder adenocarcinoma|adenocarcinoma of the urinary bladder|urinary bladder adenocarcinoma											DOID:3711|ONCOTREE:BLAD|EFO:1000125|UMLS:C0279682|SCTID:255110003|NCIT:C4032																		owl:Class
MONDO:0001212	biolink:NamedThing	non-suppurative otitis media	A otitis media which involves transudation of fluid in the middle ear without pus formation.	mondoexuq1wtf	nonsuppurative otitis media											ICD10:H65.9|ICD10:H65.90|SCTID:275481002|ICD9:381.4|ICD10:H65|UMLS:C0271446|COHD:4170137|DOID:11180																		owl:Class
MONDO:0012060	biolink:NamedThing	autosomal recessive nonsyndromic deafness 35	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.	mondoexuq1wtf	DFNB35|ESRRB autosomal recessive nonsyndromic deafness|autosomal recessive deafness 35|autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|deafness, autosomal recessive 35|autosomal recessive nonsyndromic deafness type 35|deafness, autosomal recessive type 35											MESH:C563908|DOID:0110493|ICD10:H90.3|UMLS:C1837857|OMIM:608565																		owl:Class
MONDO:0005013	biolink:NamedThing	dedifferentiated chondrosarcoma	An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.	mondoexuq1wtf	Dedifferentiated chondrosarcoma|DDCHS											NCIT:C6476|UMLS:C0862878|ONCOTREE:DDCHS|ICDO:9243/3|EFO:0000394																		owl:Class
MONDO:0019372	biolink:NamedThing	solitary bone cyst	A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.	mondoexuq1wtf	simple bone cyst|solitary cyst|cyst of the bone|unicameral bone cyst|bone cyst|cyst of bone					Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT						SCTID:203467005|NCIT:C2904|Orphanet:83468|ICD10:M85.4|ICD9:733.21|MESH:D001845|COHD:72421																		owl:Class
MONDO:0019060	biolink:NamedThing	bone neoplasm	A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.	mondoexuq1wtf	rare bone tumor|bone tissue tumor|bone neoplasm|tumor of bone tissue|tumor of the bone|neoplasm of the bone|neoplasm of bone|bone neoplasms|osseous tumor|bone tumors|osseous neoplasm|primary malignant neoplasm of bone|tumor of bone|neoplasm of bone tissue|bone tumor|bone tissue neoplasm|primary bone cancer											GARD:0013223|ONCOTREE:BONE|NCIT:C9343|Orphanet:68411																		owl:Class
MONDO:0005116	biolink:NamedThing	Whipple disease	A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.	mondoexuq1wtf	Whipple disease|Tropheryma whipplei infectious disease|Whipple's disease|Tropheryma whipplei disease or disorder|intestinal lipophagic granulomatosis|Tropheryma whippelii infection|Tropheryma whipplei caused disease or disorder|intestinal lipodystrophy|secondary non-tropical sprue											ICD10:K90.8+|Orphanet:3452|ICD10:M14.8*|GARD:0007889|UMLS:C0023788|EFO:0000775|COHD:197782|MESH:D008061|MedDRA:10047931|ICD10:K90.81|SCTID:41545003|UMLS:C2930851|ICD9:040.2|DOID:8476|UMLS:CN204440|NCIT:C85228																		owl:Class
MONDO:0012031	biolink:NamedThing	platelet-type bleeding disorder 10	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.	mondoexuq1wtf	platelet glycoprotein IV deficiency|bleeding disorder, Platelet-type, 10|CD36 inherited bleeding disorder, platelet-type|platelet glycoprotein 4 deficiency|BDPLT10|inherited bleeding disorder, platelet-type caused by mutation in CD36|CD36 deficiency											OMIM:608404|DOID:0111046|UMLS:C1842090|MESH:C564245																		owl:Class
MONDO:0000673	biolink:NamedThing	integrative agnosia	Agnosia characterized by the inability to integrate perceptual wholes within knowledge.	mondoexuq1wtf												DOID:0060143																		owl:Class
MONDO:0005638	biolink:NamedThing	agnosia	A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.	mondoexuq1wtf	agnosia|primary visual agnosia|dyspraxia syndrome|dyspraxia (finding)|visual amnesia|Monomodal visual amnesia											GARD:0000008|DOID:4090|ICD10:R48.2|EFO:0007136|NCIT:C84542|ICD10:R48.1|MESH:D000377|SCTID:68345001														https://rarediseases.info.nih.gov/diseases/8/agnosia				owl:Class
MONDO:0011872	biolink:NamedThing	Griscelli syndrome type 2	Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.	mondoexuq1wtf	Paid syndrome|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|GS2|Griscelli-Pruniéras syndrome type 2|Griscelli-PruniC)ras syndrome type 2|Griscelli-Pruni��ras syndrome type 2|Griscelli syndrome with hemophagocytic syndrome|Griscelli syndrome, type 2|partial albinism and immunodeficiency syndrome|PAID syndrome|Griscelli disease type 2											Orphanet:79477|GARD:0004483|NCIT:C111814|UMLS:C1868679|ICD10:E70.3|DOID:0060833|MESH:C537302|OMIM:607624														https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2				owl:Class
MONDO:0019305	biolink:NamedThing	immune deficiency with skin involvement		mondoexuq1wtf												Orphanet:79391																		owl:Class
MONDO:0024498	biolink:NamedThing	glioma susceptibility 1		mondoexuq1wtf	ependymoma|astrocytoma|oligodendroglioma|subependymoma|GLM1|glioblastoma multiforme|glioma susceptibility 1|glioma of brain, familial											OMIM:137800																		owl:Class
MONDO:0100242	biolink:NamedThing	glioma susceptibility	An inherited susceptibility or predisposition to developing glioma.	mondoexuq1wtf	glioma, susceptibility to|glioma, susceptibility							http://orcid.org/0000-0001-5208-3432				OMIMPS:137800																		owl:Class
MONDO:0008484	biolink:NamedThing	stapes ankylosis with broad thumbs and toes	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	mondoexuq1wtf	stapes ankylosis syndrome without symphalangism|Teunissen-Cremers syndrome|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis with BROAD thumb and toes											OMIM:184460|UMLS:C1866656|Orphanet:140917|SCTID:719305006|ICD10:Q87.8																		owl:Class
MONDO:0011425	biolink:NamedThing	dilated cardiomyopathy 1H	A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.	mondoexuq1wtf	CMD1H|cardiomyopathy, dilated, with conduction defect|dilated cardiomyopathy with conduction defect|dilated cardiomyopathy type 1H|cardiomyopathy, dilated, 1H											MESH:C536277|OMIM:604288|UMLS:C1858591|ICD10:I42.0|DOID:0110429																		owl:Class
MONDO:0004007	biolink:NamedThing	breast intraductal proliferative lesion	A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.	mondoexuq1wtf	mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion|ductal intraepithelial neoplasia|intraductal proliferative lesion of the breast|DIN											UMLS:C1334631|DOID:6839|NCIT:C27942																		owl:Class
MONDO:0002488	biolink:NamedThing	intraductal breast neoplasm	A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.	mondoexuq1wtf	intraductal breast neoplasm											UMLS:C0948967|NCIT:C36083|DOID:3013																		owl:Class
MONDO:0007460	biolink:NamedThing	discrimination, Two-point, reduction 1N		mondoexuq1wtf	discrimination, Two-point, reduction type 1N|sensory discrimination|discrimination, TWO-point, reduction IN											OMIM:126180																		owl:Class
MONDO:0009368	biolink:NamedThing	urofacial syndrome type 1		mondoexuq1wtf	inverted smile and occult neuropathic bladder|facial palsy, partial, with urinary abnormalities|urofacial syndrome type 1|UFS1|urofacial syndrome|Ochoa syndrome|urofacial syndrome 1|hydronephrosis with peculiar Facial expression											OMIM:236730																		owl:Class
MONDO:0000463	biolink:NamedThing	Ochoa syndrome	Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.	mondoexuq1wtf	UFS|hydronephrosis-inverted smile syndrome|inverted smile-neurogenic bladder syndrome|hydronephrosis with peculiar facial expression|partial facial palsy with urinary abnormalities|urofacial syndrome|Ochoa syndrome|inverted smile and occult neuropathic bladder|urofacial Ochoa's syndrome											Orphanet:2704|GARD:0000104|MESH:C536480|SCTID:236533008|DOID:0050816|OMIMPS:236730|ICD10:N31.8																		owl:Class
MONDO:0009582	biolink:NamedThing	Mietens syndrome	Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.	mondoexuq1wtf	Mietens-Weber syndrome|mental retardation syndrome, Mietens-WEBER type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|intellectual disability, Mietens-Weber type|mental retardation syndrome, Mietens Weber type|intellectual disability syndrome, Mietens-WEBER type|intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability											MESH:C537444|ICD10:Q87.8|SCTID:40291001|GARD:0003524|OMIM:249600|ICD9:759.89|UMLS:C0265249|Orphanet:2557																		owl:Class
MONDO:0015192	biolink:NamedThing	unclassified intestinal pseudoobstruction		mondoexuq1wtf												Orphanet:104078|UMLS:CN197532|ICD10:K59.8																		owl:Class
MONDO:0017574	biolink:NamedThing	chronic intestinal pseudoobstruction	Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.	mondoexuq1wtf	intestinal pseudo-obstruction, chronic|cipo|chronic intestinal pseudo-obstruction											SCTID:235828008|GARD:0012744|Orphanet:2978|ICD10:K59.8														https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction				owl:Class
MONDO:0031219	biolink:NamedThing	mismatch repair cancer syndrome		mondoexuq1wtf												OMIMPS:276300																		owl:Class
MONDO:0015351	biolink:NamedThing	neuropathy with hearing impairment	This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	mondoexuq1wtf												Orphanet:139512|SCTID:723497003|ICD10:G60.8|UMLS:CN199414																		owl:Class
MONDO:0015359	biolink:NamedThing	autosomal dominant hereditary demyelinating motor and sensory neuropathy		mondoexuq1wtf	AD demyelinating HMSN											Orphanet:140453|ICD10:G60.0|UMLS:CN228926																		owl:Class
MONDO:0019178	biolink:NamedThing	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.	mondoexuq1wtf												UMLS:CN205748|Orphanet:77300|ICD10:Q87.0																		owl:Class
MONDO:0013879	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2		mondoexuq1wtf	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|PFBMFT2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2											OMIM:614743|UMLS:C3553622																		owl:Class
MONDO:0019513	biolink:NamedThing	esophageal malformation		mondoexuq1wtf												Orphanet:88993																		owl:Class
MONDO:0013497	biolink:NamedThing	Okt4 epitope deficiency		mondoexuq1wtf	Okt4 epitope deficiency|T4 epitope deficiency											UMLS:C3151379|OMIM:613949																		owl:Class
MONDO:0006248	biolink:NamedThing	hydatidiform mole	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.	mondoexuq1wtf	hydatidiform mole|HYDM|hydatidiform mole, recurrent|molar pregnancy|hydatid Mole											ONCOTREE:MP|MedDRA:10020481|ICD10:O01.0|Orphanet:99927|GARD:0010263|ICDO:9100/0|OMIMPS:231090|ICD9:631|ICD10:O01.1|UMLS:C0020217|ICD10:O01.9|EFO:1000298|MESH:D006828|SCTID:44782008|NCIT:C3110																		owl:Class
MONDO:0021630	biolink:NamedThing	lipoma of face	A lipoma that involves the face.	mondoexuq1wtf	face lipoma											ICD9:214.0|SCTID:93159009																		owl:Class
MONDO:0002969	biolink:NamedThing	ciliary body cancer	A malignant neoplasm involving the ciliary body.	mondoexuq1wtf	ciliary body cancer|malignant tumor of ciliary body|malignant ciliary body tumor|malignant tumor of the ciliary body|malignant neoplasm of ciliary body|malignant neoplasm of the ciliary body|malignant ciliary body neoplasm|cancer of ciliary body|tumor of the ciliary body											ICD10:C69.4|DOID:4352|NCIT:C4766|SCTID:188263008|UMLS:C0496833																		owl:Class
MONDO:0018229	biolink:NamedThing	Stevens-Johnson syndrome	Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.	mondoexuq1wtf	Stevens Johnson syndrome|severe cutaneous adverse reaction, susceptibility to|erythema multiforme Major|Stevens-Johnson syndrome, susceptibility to|Dermatostomatitis, Stevens Johnson type|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|toxic Epidermal necrolysis, susceptibility to											ICD10:L51.2|ICD9:695.15|OMIM:608579|COHD:141651|NCIT:C79484|DOID:0050426|ICD9:695.13|ICD9:695.12|GARD:0007700|ICD10:L51.1|Orphanet:36426|SCTID:73442001|UMLS:C0038325|EFO:0004276|MedDRA:10042033|MESH:D013262																		owl:Class
MONDO:0019741	biolink:NamedThing	familial cystic renal disease	An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary cystic kidney disease											Orphanet:93587|UMLS:CN206655																		owl:Class
MONDO:0002473	biolink:NamedThing	cystic kidney disease	A congenital or acquired kidney disorder characterized by the presence of renal cysts.	mondoexuq1wtf	kidney cyst|renal cyst											NCIT:C34750|DOID:2975|SCTID:722223000|ICD10:Q61|UMLS:C0022679|MESH:D052177|COHD:193016																		owl:Class
MONDO:0002240	biolink:NamedThing	acute perichondritis of pinna	Acute form of perichondritis of auricle.	mondoexuq1wtf	acute perichondritis of auricle|perichondritis of auricle, acute											COHD:132333|SCTID:45855004|UMLS:C0155390|DOID:221|ICD9:380.01																		owl:Class
MONDO:0001051	biolink:NamedThing	acute otitis externa	Acute form of otitis externa.	mondoexuq1wtf	acute swimmer's ear|tank ear|acute bacterial inflammation of external ear|acute swimmers' ear|otitis externa, acute|acute otitis externa, diffuse|acute otitis externa|beach ear											SCTID:30250000|ICD9:380.12|MEDGEN:508459|DOID:10518|UMLS:C0149948																		owl:Class
MONDO:0006984	biolink:NamedThing	subdural empyema	An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.	mondoexuq1wtf	subdural abscess											SCTID:37660004|UMLS:C0038539|MedDRA:10042360|EFO:1001196|DOID:11389|MESH:D013354																		owl:Class
MONDO:0005242	biolink:NamedThing	empyema	An accumulation of pus in a body cavity, usually the pleural space.	mondoexuq1wtf	collection of pus											SCTID:312682007|NCIT:C34572|EFO:0003097|MESH:D004653|ICD9:510																		owl:Class
MONDO:0004693	biolink:NamedThing	squamous carcinoma in situ	A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.	mondoexuq1wtf	stage 0 squamous cell carcinoma|severe dysplasia of the cervix uteri|cervical intraepithelial neoplasia grade III with severe dysplasia|carcinoma, squamous cell, in situ, malignant|cervix Ca in situ|epidermoid cell carcinoma in situ|CIN III - severe dyskaryosis|squamous cell carcinoma in situ|severe dysplasia of cervix|squamous carcinoma in situ|CIN III|uterine cervix in situ carcinoma|intraepithelial squamous cell carcinoma|grade III squamous intraepithelial neoplasia|grade III SIN|stage 0 uterine cervix carcinoma|epidermoid carcinoma in situ|CIN III - carcinoma in situ of cervix|grade 3 SIN|carcinoma in situ of cervix|grade 3 squamous intraepithelial neoplasia|squamous intraepithelial neoplasia, grade III|squamous cell carcinoma in-situ|carcinoma in situ of uterine cervix											UMLS:C0334245|ICDO:8070/2|NCIT:C27093|ICDO:8077/2																		owl:Class
MONDO:0014516	biolink:NamedThing	microcephaly and chorioretinopathy 2	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.	mondoexuq1wtf	MCCRP2|PLK4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy type 2|microcephaly and chorioretinopathy, autosomal recessive, 2|microcephaly and chorioretinopathy caused by mutation in PLK4|microcephaly and chorioretinopathy, autosomal recessive, type 2											OMIM:616171|DOID:0080106|UMLS:C4015388																		owl:Class
MONDO:0019205	biolink:NamedThing	trichodysplasia-amelogenesis imperfecta syndrome	The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.	mondoexuq1wtf												UMLS:CN205796|Orphanet:79129																		owl:Class
MONDO:0025425	biolink:NamedThing	hepatitis, infectious canine	A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.	mondoexuq1wtf	Hepatitides, canine infectious|canine Hepatitides, infectious|Hepatitis, canine infectious|Hepatitides, infectious canine|canine infectious Hepatitides|infectious Hepatitides, canine|infectious canine Hepatitides|canine Hepatitis, infectious|infectious canine Hepatitis|infectious Hepatitis, canine|canine infectious Hepatitis											MESH:D006522																		owl:Class
MONDO:0024919	biolink:NamedThing	dog disease	Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.	mondoexuq1wtf	diseases, Dog|diseases, canine|dog disease|canine disease|disease, canine|disease, Dog|canine diseases											MESH:D004283|UMLS:C0012979																		owl:Class
MONDO:0010103	biolink:NamedThing	teeth, fused		mondoexuq1wtf	teeth, fused											SCTID:1744008|OMIM:273000																		owl:Class
MONDO:0007505	biolink:NamedThing	earring holes, natural		mondoexuq1wtf	earlobe sinuses|earring holes, natural											OMIM:129000																		owl:Class
MONDO:0018648	biolink:NamedThing	Keratocystic odontogenic tumor	An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.	mondoexuq1wtf	odontogenic keratocystoma|KTOC|odontogenic Keratocyst											UMLS:C1708604|Orphanet:447777|SCTID:713277006|NCIT:C54302|UMLS:CN237705|ICD10:D16.4																		owl:Class
MONDO:0019722	biolink:NamedThing	glomerular disease	A disease involving the renal glomerulus.	mondoexuq1wtf	disorder of renal glomerulus|renal glomerulus disease|disease or disorder of renal glomerulus|disease of renal glomerulus|glomerulopathies|renal glomerulus disease or disorder|glomerulopathy											GTR:AN0966176|Orphanet:93548|SCTID:197679002|ICD10:N00.N08|COHD:4059452|UMLS:CN580795|NCIT:C120887																		owl:Class
MONDO:0006487	biolink:NamedThing	vaginal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.	mondoexuq1wtf	vaginal adenoid cystic cancer|vaginal adenoid cystic carcinoma											EFO:1000617|NCIT:C40261|UMLS:C1519912																		owl:Class
MONDO:0003567	biolink:NamedThing	bilateral hypoactive labyrinth		mondoexuq1wtf	hypoactive bilateral labyrinthine dysfunction|hypoactive labyrinth, bilateral											DOID:565|ICD9:386.54|SCTID:194375009|UMLS:C0155518																		owl:Class
MONDO:0002467	biolink:NamedThing	inner ear disease	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.	mondoexuq1wtf	disease or disorder of internal ear|internal ear disease|labyrinthine disease|disease of internal ear|internal Ear disorder|vestibular disorder|disorder of internal ear|inner Ear disorder|internal ear disease or disorder											SCTID:232297009|ICD10:H83.90|ICD10:H83.9|ICD10:H80.H83|NCIT:C27166|ICD10:H80-H83|DOID:2952|MESH:D007759																		owl:Class
MONDO:0006107	biolink:NamedThing	benign thyroid gland neoplasm	A benign neoplasm arising from the thyroid gland.	mondoexuq1wtf	benign tumor of thyroid|benign neoplasm of thyroid gland|benign neoplasm of the thyroid gland|benign neoplasm of the thyroid|benign thyroid gland tumor|benign thyroid gland neoplasm|benign tumor of the thyroid|thyroid neoplasm, benign|benign tumor of the thyroid gland|benign neoplasm of thyroid|benign thyroid tumor|benign neoplasm of thyroid glands|benign thyroid neoplasm|benign tumor of thyroid gland|thyroid gland benign neoplasm											NCIT:C3628|EFO:1000122|UMLS:C0154038|SCTID:92439006|COHD:141249|ICD9:226																		owl:Class
MONDO:0015074	biolink:NamedThing	thyroid tumor	A benign or malignant neoplasm affecting the thyroid gland.	mondoexuq1wtf	tumor of the thyroid gland|thyroid gland tumor|neoplasm of the thyroid|neoplasm of thyroid gland|tumor of thyroid|tumor of the thyroid|thyroid neoplasm|tumor of thyroid gland|thyroid gland neoplasm|thyroid tumor|neoplasm of the thyroid gland|thyroid gland neoplasm (disease)|THYROID|thyroid neoplasms|neoplasm of thyroid					Editor note: TODO					MONDO:0021217	ICD9:239.7|ONCOTREE:THYROID|NCIT:C3414|SCTID:127018007|EFO:0003841|Orphanet:100087																		owl:Class
MONDO:0006759	biolink:NamedThing	femoral neuropathy	Neuropathy of the femoral nerve.	mondoexuq1wtf	peripheral nerve lesion of femoral nerve|femoral nerve lesions|femoral nerve peripheral nerve lesion|femoral nerve dysfunction											NCIT:C27595|DOID:4196|ICD9:355.2|UMLS:C0751931|ICD10:G57.20|MESH:D020428|SCTID:25690000|COHD:439807|ICD10:G57.2|EFO:1000936																		owl:Class
MONDO:0000111	biolink:NamedThing	camptodactyly syndrome, Guadalajara		mondoexuq1wtf						Text for OMIM 211910 includes 211920 and 611929 as other types.						DC:0000486																		owl:Class
MONDO:0009225	biolink:NamedThing	fever, familial lifelong persistent		mondoexuq1wtf	fever, familial lifelong persistent											OMIM:228400|UMLS:C1856788|MESH:C565569																		owl:Class
MONDO:0016165	biolink:NamedThing	genetic hypoparathyroidism	Genetic hypoparathyroidism.	mondoexuq1wtf	genetic hypoparathyroidism											Orphanet:208593																		owl:Class
MONDO:0011751	biolink:NamedThing	COPD, severe early onset		mondoexuq1wtf	pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset|pulmonary disease, chronic obstructive|COPD|pulmonary disease, chronic obstructive, rate of decline of lung function 1N					Editor note: consider merging to parent						OMIM:606963																		owl:Class
MONDO:0005002	biolink:NamedThing	chronic obstructive pulmonary disease	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.	mondoexuq1wtf	chronic obstructive pulmonary disease, (COPD)|obstructive pulmonary disease (COPD), chronic|pulmonary disease (COPD), chronic obstructive|chronic obstructive airways disease|cold|obstructive lung disease, chronic|COPD, chronic obstructive pulmonary disease|COPD|chronic obstructive pulmonary disease (COPD)|disease (COPD), chronic obstructive|cold (chronic obstructive lung disease)|chronic obstructive lung disease|chronic obstructive airway disease											MESH:D029424|EFO:0000341|ICD10:J44.9|ICD9:490-496.99|NCIT:C3199|SCTID:13645005|DOID:3083|ICD9:496|COHD:255573																		owl:Class
MONDO:0002623	biolink:NamedThing	pediatric osteosarcoma	An osteosarcoma occurring in childhood.	mondoexuq1wtf	osteosarcoma (disease) of childhood|childhood osteosarcoma|pediatric osteosarcoma (disease)|childhood osteogenic sarcoma|osteosarcoma|childhood osteosarcoma (disease)|pediatric osteosarcoma											UMLS:C1332986|NCIT:C6585|DOID:3361																		owl:Class
MONDO:0007730	biolink:NamedThing	histiocytic dermatoarthritis		mondoexuq1wtf	histiocytic dermatoarthritis											MESH:C564183|OMIM:142730|UMLS:C1840551																		owl:Class
MONDO:0009439	biolink:NamedThing	autosomal recessive congenital ichthyosis 2	An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.	mondoexuq1wtf	nonbullous congenital ichthyosiform erythroderma 1|Brocq congenital ichthyosiform erythroderma nonbullous form|NCIE1|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|collodion baby, self-healing|ichthyosiform erythroderma, congenital, nonbullous, 1|ichthyosis, congenital, autosomal recessive 2|ARCI2|autosomal recessive congenital ichthyosis type 2|ichthyosis, congenital, autosomal recessive type 2|NBCIE|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, nonbullous congenital, 1|NCIE|ichthyosiform erythroderma, Brocq congenital, nonbullous form											ICD10:Q80.2|GARD:0009736|NCIT:C132827|OMIM:242100|DOID:0060710																		owl:Class
MONDO:0014418	biolink:NamedThing	myopathy, centronuclear, 5	Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.	mondoexuq1wtf	autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, type 5|SPEG autosomal recessive centronuclear myopathy|CNM5|myopathy, centronuclear, 5											DOID:0111222|UMLS:C4014814|OMIM:615959																		owl:Class
MONDO:0015705	biolink:NamedThing	autosomal recessive centronuclear myopathy	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	mondoexuq1wtf	centronuclear myopathy, autosomal recessive|AR-CNM											DOID:0111216|SCTID:240081004|UMLS:C3645536|Orphanet:169186|GARD:0012718|ICD10:G71.2																		owl:Class
MONDO:0010475	biolink:NamedThing	X-linked central congenital hypothyroidism with late-onset testicular enlargement	An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.	mondoexuq1wtf	X-linked central congenital hypothyroidism with late-onset macroorchidism|Immunoglobulin superfamily member 1 deficiency syndrome|X-linked central congenital hypothyroidism with late-onset testicular enlargement|hypothyroidism, central, and testicular enlargement|central hypothyroidism and testicular enlargement|IGSF1 deficiency syndrome|CHTE|hypothyroidism Central and testicular enlargement											Orphanet:329235|OMIM:300888|DOID:0111140|UMLS:C3550963|NCIT:C130989|ICD10:E03.1																		owl:Class
MONDO:0002032	biolink:NamedThing	colon carcinoma	A carcinoma that arises from epithelial cells of the colon	mondoexuq1wtf	colon cancer|colonic carcinoma|carcinoma of colon|colon carcinoma|carcinoma of the colon											EFO:1001950|DOID:1520|UMLS:C0699790|NCIT:C4910|SCTID:269533000																		owl:Class
MONDO:0007802	biolink:NamedThing	hypospadias 3, autosomal		mondoexuq1wtf	HYSP3|hypospadias 3, autosomal											UMLS:C2675154|MESH:C567191|OMIM:146450																		owl:Class
MONDO:0005345	biolink:NamedThing	hypospadias	Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.	mondoexuq1wtf	familial hypospadias|hypospadias familial|hypospadias|hypospadias (disease)		hypospadias (disease)									EFO:0004209|UMLS:CN205090|ICD10:Q54.4|ICD10:Q54.8|Orphanet:440|NCIT:C40341|ICD10:Q54.2|DOID:10892|HP:0000047|SCTID:416010008|MESH:D007021|ICD9:752.61|ICD10:Q54.3|COHD:196528|ICD10:Q54.1|UMLS:C0848558|ICD10:Q54.0|OMIMPS:300633|ICD10:Q54|ICD10:Q54.9|GARD:0002929																		owl:Class
MONDO:0007667	biolink:NamedThing	subependymoma	Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.	mondoexuq1wtf	subependymal glioma|subependymal astrocytoma|subependymoma|WHO grade I ependymal neoplasm|subependymal astrocytoma (formerly)|WHO grade I ependymal tumor|mixed subependymoma-ependymoma|SUBEPENDYMOMA, benign											EFO:1000553|GARD:0010070|ONCOTREE:SUBE|Orphanet:251639|EFO:1001197|DOID:4843|NCIT:C3795|UMLS:C0206725|MESH:D018315|ICDO:9383/1|ICD10:D43.2																		owl:Class
MONDO:0009291	biolink:NamedThing	glycogen storage disease III	Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.	mondoexuq1wtf	glycogen storage disease III|glycogen storage disease IIIC|GSD type 3|amylo-1,6-glucosidase deficiency|deficiency of dextrin|glycogen storage disease IIID|glycogen storage disease IIIb|AGL glycogen storage disease|glycogenosis due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|Cori-Forbes disease|glycogen storage disease type 3|amylo 1,6 glucosidase deficiency|glycogen storage disease, type III|limit dextrinosis|glycogen storage disease 3|Gde deficiency|Agl deficiency|GSD due to glycogen debranching enzyme deficiency|GDE deficiency|glycogen storage disease due to glycogen debranching enzyme deficiency|glycogen storage disease IIIa|glycogenosis type III|glycogen storage disease caused by mutation in AGL|Cori disease|glycogenosis type 3|GSDIII|GSD3|deficiency of debranching enzyme|Forbes disease|glycogen storage disease type III											Orphanet:366|UMLS:C0017922|MedDRA:10053250|ICD10:E74.0|DOID:2748|GARD:0009442|SCTID:66937008|UMLS:CN204781|MESH:D006010|NCIT:C84736|ICD10:E74.03|OMIM:232400																		owl:Class
MONDO:0016325	biolink:NamedThing	glycogen storage disease with hypertrophic cardiomyopathy		mondoexuq1wtf	glycogenosis with hypertrophic cardiomyopathy|GSD with hypertrophic cardiomyopathy											Orphanet:217572|UMLS:CN201158|ICD10:E74.0																		owl:Class
MONDO:0018548	biolink:NamedThing	acute poisoning by drugs with membrane-stabilizing effect	Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.	mondoexuq1wtf												UMLS:CN227538|Orphanet:43119																		owl:Class
MONDO:0029000	biolink:NamedThing	poisoning	A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.	mondoexuq1wtf	intoxication|Poisonings|poisoning syndrome											MESH:D011041|SCTID:75478009|UMLS:C0302332|EFO:0008546																		owl:Class
MONDO:0017215	biolink:NamedThing	calciphylaxis	Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.	mondoexuq1wtf	idiopathic calciphylaxis											Orphanet:280062|SCTID:237900002|UMLS:C0006666|MESH:D002115|GARD:0005980|MedDRA:10051714|ICD10:E83.5|ICD9:275.49|NCIT:C84607|DOID:4734														https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis				owl:Class
MONDO:0005152	biolink:NamedThing	hypopituitarism	A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.	mondoexuq1wtf	pituitary hormone deficiency|pituitary hypofunction|pituitary insufficiency											UMLS:C0020635|NCIT:C62591|EFO:0001380|MESH:D007018|DOID:9406|ICD10:E23.0|COHD:4254542|GARD:0002917|SCTID:74728003														https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism				owl:Class
MONDO:0003381	biolink:NamedThing	pituitary gland disease	A disease involving the pituitary gland.	mondoexuq1wtf	disease or disorder of pituitary gland|pituitary disease|pituitary gland disease|disease of pituitary gland|pituitary gland disorder|pituitary gland disease or disorder|disorder of pituitary gland											ICD9:253.1|NCIT:C26854|ICD9:253.8|SCTID:399244003|COHD:23986|ICD9:253.9|DOID:53|MESH:D010900																		owl:Class
MONDO:0008198	biolink:NamedThing	parietal foramina with cleidocranial dysplasia	Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.	mondoexuq1wtf	parietal foramina with cleidocranial dysostosis|parietal foramina with clavicular hypoplasia|parietal foramina with cleidocranial dysplasia|cleidocranial dysplasia with parietal foramina|PFMCCD											UMLS:C1868597|Orphanet:251290|ICD10:Q74.0|OMIM:168550|MESH:C566825																		owl:Class
MONDO:0016656	biolink:NamedThing	7q31 microdeletion syndrome		mondoexuq1wtf	monosomy 7q31|Del(7)(q31)											Orphanet:251061|ICD10:Q93.5|UMLS:CN201886																		owl:Class
MONDO:0018134	biolink:NamedThing	disorder of melanin metabolism		mondoexuq1wtf												UMLS:CN227269|Orphanet:352728																		owl:Class
MONDO:0037940	biolink:NamedThing	inherited auditory system disease	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	auditory system hereditary disorder|hereditary auditory system disease											UMLS:C1285174|SCTID:362991006																		owl:Class
MONDO:0009903	biolink:NamedThing	postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.	mondoexuq1wtf	acrofacial dysostosis, Genee-Wiedmann type|POADS|Genee-Wiedemann acrofacial dysostosis|postaxial acrofacial dysostosis (POADS) syndrome|GWAFD|Genee-Wiedemann syndrome|POADS syndrome|postaxial acrofacial dysostosis|Wildervanck-Smith syndrome|postaxial acrodysostosis|Mandibulfacial dysostosis with postaxial limb anomalies|Miller syndrome											SCTID:66038001|ICD10:Q75.4|UMLS:C0265257|Orphanet:246|ICD9:759.89|OMIM:263750|GARD:0008410|MESH:C537680|DOID:0111259																		owl:Class
MONDO:0018237	biolink:NamedThing	acrofacial dysostosis		mondoexuq1wtf												DOID:0060379|NCIT:C35795|UMLS:C1332140|Orphanet:364574																		owl:Class
MONDO:0018241	biolink:NamedThing	primary short bowel syndrome		mondoexuq1wtf												Orphanet:365563|ICD10:Q41.0|UMLS:CN204780																		owl:Class
MONDO:0015183	biolink:NamedThing	short bowel syndrome	Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	mondoexuq1wtf	acquired short bowel syndrome|short gut syndrome											UMLS:C0036992|ICD9:579.3|GARD:0001502|MedDRA:10049416|MESH:D012778|NCIT:C99059|Orphanet:104008|DOID:10605|SCTID:26629001														https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome				owl:Class
MONDO:0025155	biolink:NamedThing	hemorrhagic syndrome, bovine	Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality.	mondoexuq1wtf	bovine hemorrhagic syndrome											MESH:D030243|UMLS:C0950112																		owl:Class
MONDO:0017273	biolink:NamedThing	autosomal ichthyosis syndrome with fatal disease course		mondoexuq1wtf												UMLS:CN202794|Orphanet:281241																		owl:Class
MONDO:0017270	biolink:NamedThing	autosomal ichthyosis syndrome		mondoexuq1wtf												UMLS:CN202791|Orphanet:281217																		owl:Class
MONDO:0000430	biolink:NamedThing	mature T-cell and NK-cell non-Hodgkin lymphoma	This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.	mondoexuq1wtf	mature T-cell and NK-cell non-Hodgkin's lymphoma|mature T-and NK-cell lymphoma|mature T-cell and NK-cell lymphoma|peripheral T-cell lymphoma|mature T-cell non-Hodgkin's lymphoma|mature T-cell lymphoma|NK-T cell lymphoma|PTCL|mature T-cell and NK-cell non-Hodgkin lymphoma|mature T-cell and natural killer cell lymphoma											SCTID:109977009|ICD10:C84.4|DOID:0050743|COHD:434881|MESH:D016411|GARD:0007368|ICDO:9702/3|DOID:0050749|NCIT:C3468														https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma				owl:Class
MONDO:0016578	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.	mondoexuq1wtf	OXPHOS disease due to nuclear DNA anomalies|OXPHOS disease due to nDNA anomalies|mitochondrial oxidative phosphorylation disorder due to nDNA anomalies											Orphanet:2443|UMLS:CN201731																		owl:Class
MONDO:0040654	biolink:NamedThing	autosomal dominant oculocutaneous albinism	Autosomal dominant form of oculocutaneous albinism.	mondoexuq1wtf	oculocutaneous albinism, autosomal dominant|autosomal dominant oculocutaneous albinism											SCTID:79417003																		owl:Class
MONDO:0100161	biolink:NamedThing	hyperkalemic renal tubular acidosis	Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.	mondoexuq1wtf	type 4 renal tubular acidosis|hyperkalemic RTA|type 4 RTA							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0007163	biolink:NamedThing	episodic ataxia type 2	Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.	mondoexuq1wtf	episodic ataxia type 2|CACNA1A hereditary episodic ataxia|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|episodic ataxia with nystagmus|ataxia, episodic, with Nystagmus|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|Nystagmus-associated episodic ataxia|hereditary episodic ataxia caused by mutation in CACNA1A|APCA|EA2|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|episodic ataxia, Nystagmus-associated|ataxia, familial, paroxysmal|Cerebellopathy, hereditary paroxysmal|episodic ataxia, type 2|Acetazolamide-responsive episodic ataxia syndrome|familial paroxysmal ataxia|ataxia, familial paroxysmal|CAPA											DOID:0050990|SCTID:420932006|Orphanet:97|ICD10:G11.8|MESH:C535506|GARD:0009602|OMIM:108500|UMLS:C1720416																		owl:Class
MONDO:0016227	biolink:NamedThing	hereditary episodic ataxia	Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.	mondoexuq1wtf	episodic ataxia|ea syndrome|episodic ataxia syndrome|Isaacs syndrome											OMIMPS:160120|Orphanet:211062|EFO:1000638|DOID:963|GARD:0009851|ICD10:G11.8|UMLS:C1720189|SCTID:421455009																		owl:Class
MONDO:0024500	biolink:NamedThing	duodenal neuroendocrine neoplasm	A neuroendocrine neoplasm that involves the duodenum.	mondoexuq1wtf	duodenum neuroendocrine neoplasm|neuroendocrine neoplasm of duodenum|duodenum neuroendocrine tumor|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|duodenum NET																													owl:Class
MONDO:0002220	biolink:NamedThing	tooth hard tissue disease		mondoexuq1wtf	disorder of hard tissues of teeth|teeth hard tissue disease|teeth hard tissue diseases											ICD10:K03.89|ICD9:521.89|ICD10:K03|SCTID:46557008|ICD10:K03.8|DOID:214|UMLS:C0155926|ICD9:521.8																		owl:Class
MONDO:0021291	biolink:NamedThing	carcinoma in situ of fundus of stomach	A in situ carcinoma that involves the fundus of stomach.	mondoexuq1wtf	fundus of stomach carcinoma in situ|carcinoma in situ of gastric fundus|gastric fundus carcinoma in situ|stage 0 gastric fundus carcinoma|fundus of stomach in situ carcinoma|gastric fundus carcinoma in situ aJCC v6 and v7|stage 0 fundus of stomach carcinoma|carcinoma in situ of fundus of stomach|carcinoma in situ of the fundus of the stomach|carcinoma in situ of the gastric fundus											NCIT:C4429|SCTID:92598002|UMLS:C0345800																		owl:Class
MONDO:0004716	biolink:NamedThing	stomach carcinoma in situ	A in situ carcinoma that involves the stomach.	mondoexuq1wtf	carcinoma in situ of the stomach|carcinoma of stomach stage 0|gastric carcinoma, stage 0|stage 0 gastric cancer aJCC v7|stage 0 gastric carcinoma in situ|stomach carcinoma stage 0|gastric carcinoma stage 0|gastric carcinoma in situ|stomach in situ carcinoma|carcinoma of the stomach stage 0|stage 0 carcinoma of the stomach|stage 0 stomach carcinoma|stage 0 gastric cancer aJCC v6 and v7|stage 0 gastric (stomach) cancer|stage 0 gastric carcinoma|stage 0 gastric cancer|stage 0 gastric cancer aJCC v6|stage 0 carcinoma of stomach|stage 0 stomach cancer|carcinoma in situ of stomach|stomach carcinoma in situ											UMLS:C0154060|COHD:200974|ICD9:230.2|SCTID:92756002|NCIT:C7788|ICD10:D00.2|DOID:9138																		owl:Class
MONDO:0014342	biolink:NamedThing	female infertility due to zona pellucida defect	Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.	mondoexuq1wtf	OOMD1|oocyte maturation defect 1|OOMD|oocyte maturation defect											ICD10:N97.8|OMIM:615774|Orphanet:404466|UMLS:C4014291																		owl:Class
MONDO:0044747	biolink:NamedThing	human anaplasmosis	An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia.	mondoexuq1wtf	human anaplasmosis|Anaplasmoses|anaplasmosis											ICD9:082.49|SCTID:427481004|NCIT:C128425																		owl:Class
MONDO:0025303	biolink:NamedThing	anaplasmosis	An disease or disorder caused by infection with Anaplasma.	mondoexuq1wtf	Anaplasma disease or disorder|Anaplasma caused disease or disorder|Anaplasma infectious disease											SCTID:13906002																		owl:Class
MONDO:0003002	biolink:NamedThing	dysgerminoma	A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.	mondoexuq1wtf	dysgerminoma, malignant|dysgerminoma|dysgerminoma (disease)		dysgerminoma (disease)									MESH:D004407|NCIT:C2996|DOID:4441|ICDO:9060/3|HP:0100621|UMLS:C0013377																		owl:Class
MONDO:0006290	biolink:NamedThing	malignant germ cell tumor	A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.	mondoexuq1wtf	malignant germ cell neoplasm|germ cell tumor, malignant|malignant germ cell tumor|germ cell cancer|malignant neoplasm of the germ cell|malignant tumor of the germ cell|cancer of germ cell|malignant tumor of germ cell|malignant neoplasm of germ cell											UMLS:C4048549|GARD:0003360|EFO:1000352|SCTID:145831000119103|NCIT:C4925																		owl:Class
MONDO:0013226	biolink:NamedThing	combined immunodeficiency with faciooculoskeletal anomalies	Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	mondoexuq1wtf	combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|Roifman-Chitayat syndrome|ROIFMAN-Chitayat syndrome											ICD10:Q87.8|Orphanet:221139|OMIM:613328|MESH:C567641|UMLS:C2750068																		owl:Class
MONDO:0025087	biolink:NamedThing	classical swine fever	An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.	mondoexuq1wtf	cholera, Hog|Hog cholera|swine fever, classical|swine fever											MESH:D006691|UMLS:C0019841																		owl:Class
MONDO:0005909	biolink:NamedThing	pestivirus infectious disease	Infections with viruses of the genus pestivirus, family flaviviridae.	mondoexuq1wtf	Pestivirus infectious disease|infections, Pestivirus|Pestivirus caused disease or disorder|infection, Pestivirus|Pestivirus disease or disorder|Pestivirus infection											MESH:D018182|EFO:0007432|UMLS:C0206611																		owl:Class
MONDO:0008680	biolink:NamedThing	Wilms tumor 2		mondoexuq1wtf	FWT2|Wilms tumor type 2|familial Wilms tumor 2|WT2|Wilms tumor 2											OMIM:194071|GARD:0008559|MESH:C536853														https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2				owl:Class
MONDO:0002362	biolink:NamedThing	serous surface papilloma	A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.	mondoexuq1wtf	serous surface papilloma (morphologic abnormality)|serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma											DOID:2614|NCIT:C4181|UMLS:C0334360|ICDO:8461/0																		owl:Class
MONDO:0010604	biolink:NamedThing	hemophilia B	Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.	mondoexuq1wtf	HEMB|hemophilia B(M)|hemophilia B Leyden|Christmas disease|hem B|factor 9 deficiency|factor IX deficiency|hereditary Factor IX deficiency|F9 deficiency|deficiency, functional factor IX|plasma thromboplastin component deficiency|hemophilia type B|congenital factor IX disorder|hemophilia B|congenital factor IX deficiency|hereditary Factor IX deficiency disease											DOID:12259|OMIM:306900|ICD9:286.1|UMLS:C0008533|SCTID:41788008|Orphanet:98879|EFO:0009154|ICD10:D67|MedDRA:10016077|GARD:0008732|MESH:D002836|NCIT:C26721														https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b				owl:Class
MONDO:0006190	biolink:NamedThing	endolymphatic sac tumor	An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.	mondoexuq1wtf	endolymphatic sac neoplasm|aggressive papillary tumor of the temporal bone|ELST|endolymphatic sac tumor|tumor of endolymphatic sac|endolymphatic sac tumor (disease)|endolymphatic sac neoplasm (disease)|neoplasm of endolymphatic sac		endolymphatic sac tumor (disease)									EFO:1000230|HP:0030393|NCIT:C67560|UMLS:C2348239|ICDO:8260/1|GARD:0009270|SCTID:699817008|ICD9:212.0																		owl:Class
MONDO:0019223	biolink:NamedThing	inborn disorder of fatty acid oxidation and ketone body metabolism		mondoexuq1wtf	disorder of fatty acid oxidation and ketone body metabolism											ICD10:E71.3|Orphanet:79174|UMLS:CN227590																		owl:Class
MONDO:0019243	biolink:NamedThing	inborn disorder of energy metabolism	An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.	mondoexuq1wtf	inborn error of generation of precursor metabolites and energy|disorder of energy metabolism|inborn generation of precursor metabolites and energy disorder|rare inborn error of generation of precursor metabolites and energy											Orphanet:79200|UMLS:CN227604																		owl:Class
MONDO:0007205	biolink:NamedThing	diaphyseal medullary stenosis-bone malignancy syndrome	Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).	mondoexuq1wtf	bone dysplasia-medullary fibrosarcoma syndrome|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis with malignant fibrous histiocytoma|bone dysplasia with malignant fibrous histiocytoma|BDMF|DMSMFH|Hardcastle syndrome|Hardcastle's syndrome|DMS-MFH|myopathy, limb-girdle, with bone fragility											GARD:0010072|NCIT:C122660|Orphanet:85182|OMIM:112250|ICD10:M89.8|UMLS:C1862177																		owl:Class
MONDO:0019471	biolink:NamedThing	adult T-cell leukemia/lymphoma	A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.	mondoexuq1wtf	ATLL|T-cell leukemia of adults|adult T cell lymphoma/leukemia|adult T-cell leukemia|adult T-cell leukemia/lymphoma|adult T-cell lymphoma|HTLV-1 associated adult T-cell lymphoma/leukemia|adult T-cell leukaemia|adult T-cell lymphoma/leukemia|HTLV-I associated adult T-cell leukemia/lymphoma|adult T-cell leukaemia/lymphoma (HTLV-1 positive)											UMLS:C0023493|SCTID:110007008|DOID:0050523|Orphanet:86875|MedDRA:10001413|ONCOTREE:ATLL|ICDO:9827/3|ICD10:C91.5|NCIT:C3184|ICD10:C91.50|GARD:0013103|ICD9:204.80																		owl:Class
MONDO:0015817	biolink:NamedThing	aggressive primary cutaneous T-cell lymphoma		mondoexuq1wtf												Orphanet:178551																		owl:Class
MONDO:0016830	biolink:NamedThing	Emery-Dreifuss muscular dystrophy	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.	mondoexuq1wtf	scapuloperoneal syndrome, X-linked (formerly)|Humeroperoneal neuromuscular disease, (formerly)|EDMD											ICD10:G71.0|OMIMPS:310300|DOID:11726|GARD:0006329|NCIT:C84685|MESH:D020389|SCTID:111508004|UMLS:C0410189|Orphanet:261																		owl:Class
MONDO:0016106	biolink:NamedThing	progressive muscular dystrophy		mondoexuq1wtf												GARD:0012583|UMLS:CN241791|Orphanet:206644|ICD10:G71.0																		owl:Class
MONDO:0019641	biolink:NamedThing	pauci-immune glomerulonephritis	Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.	mondoexuq1wtf												Orphanet:93126|ICD10:N05.7																		owl:Class
MONDO:0003283	biolink:NamedThing	epididymal neoplasm	A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.	mondoexuq1wtf	epididymis tumor|neoplasm of epididymus|epididymal neoplasm|epididymis neoplasm|tumor of epididymis|neoplasm of epididymis|epididymis neoplasm (disease)											UMLS:C0346239|NCIT:C39958|ICD9:239.5|SCTID:126902008|DOID:512																		owl:Class
MONDO:0016725	biolink:NamedThing	pineal parenchymal tumor of intermediate differenciation	Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.	mondoexuq1wtf												Orphanet:251919|UMLS:CN201973|ICD10:D44.5																		owl:Class
MONDO:0016721	biolink:NamedThing	pineal tumor of neuroepithelial tissue		mondoexuq1wtf												UMLS:CN201969|Orphanet:251905																		owl:Class
MONDO:0017559	biolink:NamedThing	congenital elbow dislocation, bilateral		mondoexuq1wtf												ICD10:Q68.8|Orphanet:295227																		owl:Class
MONDO:0017469	biolink:NamedThing	congenital elbow dislocation		mondoexuq1wtf	congenital radial head dislocation|isolated congenital radial head dislocation|isolated congenital elbow dislocation											ICD10:Q68.8|Orphanet:295032																		owl:Class
MONDO:0100019	biolink:NamedThing	ECHS1-related paroxysmal dyskinesia	A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.	mondoexuq1wtf	ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia				2018-05-25 21:46:36+00:00																									owl:Class
MONDO:0015427	biolink:NamedThing	paroxysmal dyskinesia	Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).	mondoexuq1wtf	paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis											Orphanet:1431|ICD9:333.5|SCTID:49949003|ICD10:G24.8																		owl:Class
MONDO:0000935	biolink:NamedThing	larynx squamous papilloma	A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.	mondoexuq1wtf	squamous papilloma of larynx|squamous papilloma of the larynx|larynx papilloma|papilloma of the larynx|papilloma of larynx|laryngeal papilloma|larynx squamous papilloma											UMLS:C0240164|DOID:10071|NCIT:C7742																		owl:Class
MONDO:0004657	biolink:NamedThing	disseminated chorioretinitis		mondoexuq1wtf												UMLS:C0154879|SCTID:78769001|ICD10:H30.10|ICD9:363.1|ICD10:H30.1|COHD:433762|ICD9:363.10|DOID:8787																		owl:Class
MONDO:0004674	biolink:NamedThing	chorioretinitis	Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.	mondoexuq1wtf	retinochoroiditis|chorioretinitis (disease)|chorioretinitis		chorioretinitis (disease)									COHD:434033|UMLS:C0008513|DOID:8886|HP:0012424|GARD:0006060|NCIT:C110923|ICD9:363.20|MESH:D002825|ICD10:H30.9|ICD10:H30|SCTID:46627006																		owl:Class
MONDO:0015321	biolink:NamedThing	Pierre Robin syndrome associated with branchial archs anomalies		mondoexuq1wtf	Pierre Robin sequence associated with branchial archs anomalies											UMLS:CN199292|Orphanet:138050														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0015928	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease		mondoexuq1wtf	secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD											UMLS:CN200522|Orphanet:182104																		owl:Class
MONDO:0017035	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood associated with a systemic disease		mondoexuq1wtf	secondary ILD in childhood and adulthood associated with a systemic disease											Orphanet:264949|UMLS:CN202347																		owl:Class
MONDO:0006008	biolink:NamedThing	vestibular neuronitis	Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)	mondoexuq1wtf	epidemic neurolabyrinthitis|vestibular neuritis											ICD10:H81.20|DOID:12683|MESH:D020338|UMLS:C0751908|ICD10:H81.2|ICD10:A88.1|SCTID:186738001|ICD9:386.12|EFO:0007537|ICD9:078.81																		owl:Class
MONDO:0001563	biolink:NamedThing	vestibulocochlear nerve disease	A disease involving the vestibulocochlear nerve.	mondoexuq1wtf	disorder of vestibulocochlear nerve|vestibulocochlear nerve disease|vestibulocochlear nerve disease or disorder|vestibulocochlear nerve disorder|acoustic nerve disease|disorder of the vestibulocochlear nerve|acoustic nerve disorder NOS|disorder of acoustic nerve|acoustic nerve disorder|disorder of eighth nerve|disease or disorder of vestibulocochlear nerve|disease of vestibulocochlear nerve|disorder of acoustovestibular nerve											ICD9:388.5|DOID:12657|UMLS:C0001163|ICD10:H93.3X|MESH:D000160|SCTID:77949003|NCIT:C27207|ICD10:H93.3																		owl:Class
MONDO:0008251	biolink:NamedThing	familial pityriasis rubra pilaris	A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.	mondoexuq1wtf	Devergie's disease|PRP|pityriasis rubra pilaris--familial type|hereditary pityriasis rubra pilaris|pityriasis rubra pilaris											ICD10:L44.0|OMIM:173200|UMLS:C2930842|Orphanet:2897|COHD:136774|MESH:C531784|MedDRA:10035116|GARD:0007401|ICD9:696.4														https://github.com/monarch-initiative/mondo/issues/3470				owl:Class
MONDO:0100017	biolink:NamedThing	pityriasis rubra pilaris	A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				UMLS:C0032027|ICD10:L44.0|SCTID:3755001|DOID:9212|GARD:0007401|MESH:D010916|ICD9:696.4|NCIT:C85014														https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris|https://github.com/monarch-initiative/mondo/issues/3470				owl:Class
MONDO:0030062	biolink:NamedThing	arrhythmogenic right ventricular dysplasia, familial, 14		mondoexuq1wtf	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14|arrhythmogenic right ventricular dysplasia, familial, 14|ARVD14											OMIM:618920																		owl:Class
MONDO:0033637	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 7		mondoexuq1wtf	MC4DN7											OMIM:619051																		owl:Class
MONDO:0033885	biolink:NamedThing	mitochondrial complex IV deficiency, nuclear-type		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:220110																		owl:Class
MONDO:0014355	biolink:NamedThing	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		mondoexuq1wtf	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|DCWHKTA											UMLS:C4014393|OMIM:615821																		owl:Class
MONDO:0011581	biolink:NamedThing	arrhythmogenic cardiomyopathy with woolly hair and keratoderma	A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.	mondoexuq1wtf	DCWHK|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|keratoderma with woolly hair type II|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|dilated cardiomyopathy with woolly hair and keratoderma|KWWH type II|cardiomyopathy dilated with woolly hair and keratoderma|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|cardiomyopathy, dilated, with woolly hair and keratoderma|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|Carvajal syndrome											GARD:0005595|UMLS:C1854063|OMIM:605676|SCTID:719835006|Orphanet:65282|MESH:C535581|DOID:0090128														https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma|https://github.com/monarch-initiative/mondo/issues/1120				owl:Class
MONDO:0002817	biolink:NamedThing	adrenal gland cancer	A malignant neoplasm involving the adrenal gland	mondoexuq1wtf	malignant neoplasm of the adrenal gland|adrenal neoplasm|malignant tumor of adrenal gland|malignant neoplasm of adrenal gland|malignant adrenal gland neoplasm|malignant adrenal tumor|cancer of adrenal gland|adrenal gland cancer|malignant adrenal neoplasm|adrenal cancer|malignant tumor of the adrenal gland|tumor of the adrenal gland|malignant adrenal gland tumor											ICD9:194.0|ICD10:C74|DOID:3953|SCTID:127021009|MESH:D000310|NCIT:C9338|ICD10:C74.9|ICD9:239.7|GARD:0005751																		owl:Class
MONDO:0009162	biolink:NamedThing	Ellis-van Creveld syndrome	Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.	mondoexuq1wtf	Ellis Van Creveld syndrome|Mesoectodermal dysplasia|Chondroectodermal dysplasia|Ellis-van Creveld syndrome|EVC|Ellis-VAN Creveld syndrome|mesodermic dysplasia											UMLS:C0013903|UMLS:CN239258|OMIM:225500|Orphanet:289|ICD10:Q77.6|ICD9:756.55|DOID:12714|MedDRA:10008724|MESH:D004613|NCIT:C84684|GARD:0001301|SCTID:62501005														https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome				owl:Class
MONDO:0014129	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2R	Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|DES autosomal recessive limb-girdle muscular dystrophy|LGMD2R|autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|muscular dystrophy, limb-girdle, type 2R											ICD10:G71.0|DOID:0110286|OMIM:615325|Orphanet:363543|UMLS:C3809137																		owl:Class
MONDO:0007791	biolink:NamedThing	familial hypocalciuric hypercalcemia 1	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.	mondoexuq1wtf	familial hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia, familial, type 1|hypocalciuric hypercalcemia, familial, type I|hypocalciuric hypercalcemia, acquired|CASR familial hypocalciuric hypercalcemia|hypercalcemia, familial benign type 1|familial benign hypercalcemia type 1|hypocalciuric hypercalcemia type I|FHH type 1|familial benign hypercalcemia 1|Fhh1|FBH1|hypercalcemia, familial benign|familial hypocalciuric hypercalcemia caused by mutation in CASR|HHC1|familial hypocalciuric hypercalcemia type 1											SCTID:704166007|GARD:0002796|Orphanet:93372|MedDRA:10068704|DOID:0060700|ICD10:E83.5|MESH:C537145|OMIM:145980																		owl:Class
MONDO:0018458	biolink:NamedThing	familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.	mondoexuq1wtf	FBH|hypocalciuric hypercalcemia|FHH|familial benign hypocalciuric hypercalcemia|familial benign hypercalcemia|FBHH											ICD10:E83.5|DOID:0060699|UMLS:C0342637|NCIT:C123262|Orphanet:405|UMLS:C1809471|SCTID:237885008|OMIMPS:145980|GARD:0010828																		owl:Class
MONDO:0003303	biolink:NamedThing	neurofibroma of gallbladder	A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	mondoexuq1wtf	gall bladder neurofibroma|neurofibroma of gallbladder|gallbladder neurofibroma|neurofibroma of the gallbladder|neurofibroma of gall bladder											DOID:5150|NCIT:C5746|UMLS:C1333751																		owl:Class
MONDO:0013429	biolink:NamedThing	retinitis pigmentosa 40	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.	mondoexuq1wtf	retinitis pigmentosa 40|RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa											DOID:0110375|ICD10:H35.5|OMIM:613801|UMLS:C3151107																		owl:Class
MONDO:0032814	biolink:NamedThing	microangiopathy and leukoencephalopathy, pontine, autosomal dominant		mondoexuq1wtf	Dementia, Hereditary Multi-Infarct, Swedish Type|PADMAL|MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT											OMIM:618564																		owl:Class
MONDO:0019107	biolink:NamedThing	Rh deficiency syndrome	The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.	mondoexuq1wtf	Rh-null disease, regulator type|Rh-null hemolytic Anemia, regulator type|Rh-null disease|Rh deficiency syndrome|RHNR|RH-null, regulator type|Rh-null syndrome|Rh-Mod|RHN											ICD10:D58.8|GARD:0012916|UMLS:C1849387|Orphanet:71275|SCTID:37272000|UMLS:C0272052|DOID:0050641|OMIM:268150														https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome				owl:Class
MONDO:0019942	biolink:NamedThing	distal arthrogryposis	A muscle tissue disease characterized by congenital joint contractures of hand and feet.	mondoexuq1wtf	freeman-Sheldon syndrome|arthrogryposis multiplex congenita distal|freeman-Sheldon syndrome variant											SCTID:24269006|DOID:0050646|ICD10:Q68.8|Orphanet:97120|OMIMPS:108120|GARD:0000786														https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis				owl:Class
MONDO:0005145	biolink:NamedThing	sporadic amyotrophic lateral sclerosis	Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.	mondoexuq1wtf												EFO:0001357																		owl:Class
MONDO:0004976	biolink:NamedThing	amyotrophic lateral sclerosis	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.	mondoexuq1wtf	Lou Gehrig's disease|ALS|motor neuron disease, bulbar|Lou Gehrig disease|Charcot disease											UMLS:C0002736|EFO:0000253|Orphanet:803|NCIT:C34373|NIFSTD:birnlex_12566|KEGG:05014|GARD:0005786|DOID:332|SCTID:86044005|ICD10:G12.2|ICD10:G12.21|COHD:373182|ICD9:335.20|MedDRA:10002026|MESH:D000690																		owl:Class
MONDO:0005136	biolink:NamedThing	malaria	Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.	mondoexuq1wtf	plasmodiosis											SCTID:61462000|DOID:12365|MESH:D008288|ICD9:084.6|ICD10:B50.9|UMLS:C0024530|ICD10:B53.8|ICD10:B52.0|ICD10:B51.0|NCIT:C34797|MedDRA:10025487|ICD10:B52.9|ICD10:B51.9|ICD10:B50.8|COHD:438067|ICD10:B53.0|ICD10:B50.0|ICD10:B53|ICD10:B53.1|ICD10:B51.8|ICD10:B54|Orphanet:673|EFO:0001068|ICD9:084|ICD10:B52.8|GARD:0006961														https://rarediseases.info.nih.gov/diseases/6961/malaria				owl:Class
MONDO:0000565	biolink:NamedThing	infective endocarditis	Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.	mondoexuq1wtf	endocarditis, infective|endocarditis infective											Orphanet:570762|GARD:0006337|NCIT:C78265|ICD9:136.9|SCTID:233850007|DOID:0060000														https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis				owl:Class
MONDO:0006407	biolink:NamedThing	sarcomatoid mesothelioma	A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.	mondoexuq1wtf	sarcomatoid mesothelioma|spindled mesothelioma|malignant fibrous mesothelioma (morphologic abnormality)|sarcomatoid mesothelioma (morphologic abnormality)|malignant fibrous mesothelioma											EFO:1000521|DOID:4488|NCIT:C45655|UMLS:C0334513																		owl:Class
MONDO:0006292	biolink:NamedThing	malignant mesothelioma	A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.	mondoexuq1wtf	mesothelioma, malignant|malignant mesothelial neoplasm|malignant neoplasm of mesothelium|diffuse malignant mesothelioma|malignant tumor of mesothelium|malignant mesothelioma|asbestos-related malignant mesothelioma|MESOM|malignant neoplasm of the mesothelium|advanced malignant mesothelioma|malignant mesothelioma (disease)|malignant mesothelial tumor|malignant tumor of the mesothelium		malignant mesothelioma (disease)									UMLS:C0345967|MedDRA:10027406|UMLS:C0278752|EFO:1000355|MESH:C562839|OMIM:156240|GARD:0007026|ICDO:9050/3|Orphanet:50251|DOID:1790|NCIT:C4456|ICD10:C45.0|ICD9:199.1|SCTID:109378008|UMLS:C1332338|HP:0100001																		owl:Class
MONDO:0006112	biolink:NamedThing	bladder inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	mondoexuq1wtf	inflammatory myofibroblastic tumor of urinary bladder|bladder inflammatory myofibroblastic neoplasm|urinary bladder inflammatory myofibroblastic tumor|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic tumor of bladder|inflammatory myofibroblastic bladder tumor|inflammatory myofibroblastic neoplasm of the urinary bladder|inflammatory myofibroblastic neoplasm of urinary bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of the bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor of the urinary bladder											EFO:1000127|NCIT:C6177|UMLS:C1336891|ONCOTREE:IMTB																		owl:Class
MONDO:0015798	biolink:NamedThing	inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.	mondoexuq1wtf	inflammatory fibrosarcoma|inflammatory myofibroblastic tumor|inflammatory pseudotumor|IMT|inflammatory myofibroblastic neoplasm											Orphanet:178342|NCIT:C6481|MESH:D006104|ONCOTREE:IMT|DOID:0050905|ICDO:8825/1|UMLS:C0334121|MedDRA:10067917|GARD:0007146														https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor				owl:Class
MONDO:0017512	biolink:NamedThing	split hand, bilateral	Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	mondoexuq1wtf												Orphanet:295122|ICD10:Q71.6																		owl:Class
MONDO:0017449	biolink:NamedThing	split hand	Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	mondoexuq1wtf	split hand|split hand (disease)|ectrodactyly of hand		split hand (disease)									HP:0001171|Orphanet:294992|ICD10:Q71.6																		owl:Class
MONDO:0009500	biolink:NamedThing	kuru, susceptibility to		mondoexuq1wtf	kuru, susceptibility to|susceptibility to kuru											UMLS:C1855588|OMIM:245300																		owl:Class
MONDO:0017234	biolink:NamedThing	inherited prion disease	An instance of prion disease that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	familial prion disease|hereditary prion disease											UMLS:CN202725|Orphanet:280400|ICD10:A81.8																		owl:Class
MONDO:0044344	biolink:NamedThing	Schistosoma japonicum infectious disease	An infection that is caused by Schistosoma japonicum.	mondoexuq1wtf	Katamaya fever|Asiatic schistosomiasis|Katayama disease|schistosomiasis japonicum|Schistosoma japonicum disease or disorder|Schistosoma japonicum caused disease or disorder|Schistosoma japonicum infection|Katamaya syndrome											SCTID:268058007|MESH:D012554|NCIT:C35001																		owl:Class
MONDO:0015254	biolink:NamedThing	schistosomiasis	An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.	mondoexuq1wtf	schistosomiasis|bilharziasis|snail fever|Bilharzia											NCIT:C35000|ICD10:B65.1|SCTID:10087007|UMLS:C0036323|Orphanet:1247|ICD10:B65.3|GARD:0009687|ICD9:120.9|ICD10:B65.2|ICD10:B65.9|DOID:1395|ICD10:B65.0|MESH:D012552|EFO:1001475|ICD10:B65.8|ICD9:120.8|MedDRA:10039603																		owl:Class
MONDO:0009532	biolink:NamedThing	Miller-Dieker lissencephaly syndrome	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.	mondoexuq1wtf	chromosome 17P13.3 deletion syndrome|monosomy 17p13.3|telomeric deletion 17p|Miller-Dieker syndrome|lissencephaly due to 17p13.3 deletion|Miller-Dieker syndrome chromosome region|Miller-Dieker lissencephaly syndrome|MDLS											ICD9:758.33|NCIT:C124852|Orphanet:531|SCTID:253148005|OMIM:247200|ICD10:Q04.3|MedDRA:10068361|DOID:0060469|GARD:0003669|UMLS:C0265219																		owl:Class
MONDO:0016895	biolink:NamedThing	partial monosomy of the short arm of chromosome 17		mondoexuq1wtf	partial monosomy of chromosome 17p|partial deletion of the short arm of chromosome 17|partial deletion of chromosome 17p|partial monosomy of the short arm of chromosome type 17											ICD10:Q93.5|Orphanet:261965																		owl:Class
MONDO:0000750	biolink:NamedThing	dental abscess	A tooth disease characterized by a localized collection of pus associated with a tooth.	mondoexuq1wtf												SCTID:299709002|ICD10:K04.6|UMLS:C0518988|DOID:0060324																		owl:Class
MONDO:0006999	biolink:NamedThing	tooth disease	A disease involving the calcareous tooth.	mondoexuq1wtf	calcareous tooth disease or disorder|dental disorder|tooth disorder|calcareous tooth disease|disease or disorder of calcareous tooth|disease of calcareous tooth|disorder of calcareous tooth											EFO:1001216|SCTID:234947003|DOID:1091|UMLS:C0040435|NCIT:C35077|MESH:D014076																		owl:Class
MONDO:0018516	biolink:NamedThing	epithelial tumor of anal canal	A epithelial neoplasm that involves the anal canal.	mondoexuq1wtf	anal canal epithelial neoplasm											UMLS:CN237521|Orphanet:424010																		owl:Class
MONDO:0007273	biolink:NamedThing	paragangliomas 4	Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.	mondoexuq1wtf	paraganglioma, familial malignant|paragangliomas type 4|PGL4|paragangliomas 4|SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|pheochromocytoma, familial extraadrenal|pheochromocytoma, extraadrenal and cervical paraganglioma|paraganglioma caused by mutation in SDHB|paragangliomas, hereditary extraadrenal|SDHB paraganglioma|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal Pheochromocytomas											UMLS:C1861848|GARD:0010546|OMIM:115310														https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4				owl:Class
MONDO:0013857	biolink:NamedThing	alar cleft, isolated		mondoexuq1wtf	alar cleft, isolated											UMLS:C3553476|OMIM:614687																		owl:Class
MONDO:0020853	biolink:NamedThing	encephalitis/encephalopathy, mild, with reversible myelin vacuolization		mondoexuq1wtf	encephalitis/encephalopathy, mild, with reversible myelin vacuolization|MMERV|Encephalitis/encephalopathy, mild, with reversible splenial lesion											OMIM:618113																		owl:Class
MONDO:0005208	biolink:NamedThing	amelanotic skin melanoma	A amelanotic melanoma that involves the zone of skin.	mondoexuq1wtf	zone of skin amelanotic melanoma|amelanotic melanoma of the skin|amelanotic skin melanoma|amelanotic malignant melanoma of skin|amelanotic melanoma of skin|amelanotic malignant melanoma (of skin)|amelanotic malignant skin melanoma|skin amelanotic malignant melanoma|amelanotic cutaneous (skin) melanoma|amelanotic malignant melanoma of the skin|amelanotic melanoma of zone of skin|skin amelanotic melanoma											EFO:0002894|Wikipedia:Amelanotic_melanoma|UMLS:C0349515|DOID:10054|NCIT:C4633																		owl:Class
MONDO:0009491	biolink:NamedThing	Haim-Munk syndrome	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	mondoexuq1wtf	keratosis palmoplantaris with periodontopathia and onychogryposis|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|Haim-Munk syndrome|HMS|Cochin Jewish disorder|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|HAIM-Munk syndrome											OMIM:245010|ICD10:Q82.8|UMLS:C1855627|GARD:0000044|Orphanet:2342|SCTID:719973009|MESH:C537627														https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome				owl:Class
MONDO:0006350	biolink:NamedThing	papillary transitional cell carcinoma	A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.	mondoexuq1wtf	papillary transitional cell carcinoma (morphologic abnormality)|papillary transitional carcinoma											EFO:1000450|NCIT:C4122|UMLS:C0334274|ICDO:8130/3|DOID:4012																		owl:Class
MONDO:0004062	biolink:NamedThing	intermediate cell type uveal melanoma	Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	mondoexuq1wtf	intraocular mixed cell type melanoma|mixed cell type uveal melanoma|Intermediate cell type intraocular melanoma|Intermediate cell type uveal melanoma											DOID:6992|UMLS:C0279693|NCIT:C7989																		owl:Class
MONDO:0008479	biolink:NamedThing	spondylometaphyseal dysplasia, 'corner fracture' type	A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).	mondoexuq1wtf	SMDCF|Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia Sutcliffe type|spondylometaphyseal dysplasia, corner fracture type|Sutcliffe SmD|spondylometaphyseal dysplasia, Sutcliffe type|spondylometaphyseal dysplasia corner fracture type											MESH:C535793|OMIM:184255|SCTID:254078005|ICD10:Q77.8|Orphanet:93315|GARD:0004991|UMLS:C0432221														https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type				owl:Class
MONDO:0011505	biolink:NamedThing	familial hypobetalipoproteinemia 2	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.	mondoexuq1wtf	hypolipidemia, familial, combined|hypobetalipoproteinemia, familial, 2|combined familial hypolipidemia|FHBL2|ANGPTL3 hypobetalipoproteinemia|hypobetalipoproteinemia caused by mutation in ANGPTL3|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia, familial, type 2											MESH:C565732|OMIM:605019|DOID:0111061|UMLS:C1857970																		owl:Class
MONDO:0006708	biolink:NamedThing	Desulfovibrionaceae infectious disease	Infections with bacteria of the family Desulfovibrionaceae.	mondoexuq1wtf	Desulfovibrio infection|infection, Desulfovibrionaceae|infection, Lawsonia|Bilophila infections|commensal Bilophila infection|infections, Lawsonia|Lawsonia infection|Desulfovibrionaceae caused disease or disorder|Desulfovibrionaceae infection|infection, Desulfovibrio|infection, Bilophila|Bilophila infection|Desulfovibrionaceae disease or disorder|infections, Desulfovibrionaceae|Desulfovibrio infections|infections, Bilophila|Lawsonia infections|infections, Desulfovibrio											EFO:1000875|MESH:D045824																		owl:Class
MONDO:0021678	biolink:NamedThing	gram-negative bacterial infections	Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.	mondoexuq1wtf	bacterial infections, gram negative|bacterial infection, gram-negative|gram negative bacterial infections|infections, gram-negative bacterial|infections, gram negative bacterial|gram-negative bacterial infection|infection, gram-negative bacterial|bacterial infections, gram-negative					Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now						SCTID:371583007|MESH:D016905|ICD9:041.85																		owl:Class
MONDO:0014723	biolink:NamedThing	PMP22-RAI1 contiguous gene duplication syndrome		mondoexuq1wtf	trisomy 17p11.2-p12|Yuan-Harel-Lupski syndrome|YUAN-Harel-Lupski syndrome|dup(17)(p11.2p12)|YUHAL|trisomy 17p11.2p12|17p11.2p12 microduplication syndrome											OMIM:616652|UMLS:C4225255|Orphanet:477817																		owl:Class
MONDO:0016967	biolink:NamedThing	partial duplication of the long arm of chromosome 17		mondoexuq1wtf	trisomy 17q|partial trisomy of the long arm of chromosome 17|partial duplication of chromosome 17q|Duplication 17q|partial duplication of the long arm of chromosome type 17|partial trisomy 17q|partial trisomy of chromosome 17q|17q duplication|chromosome 17q duplication|17q trisomy											Orphanet:262968|UMLS:CN035860|GARD:0005320																		owl:Class
MONDO:0040500	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 16		mondoexuq1wtf	intellectual disability, autosomal recessive 62|mental retardation, autosomal recessive 62|glycosylphosphatidylinositol biosynthesis defect 16|GPIBD16											OMIM:617816																		owl:Class
MONDO:0011973	biolink:NamedThing	zinc deficiency, transient neonatal		mondoexuq1wtf	zinc deficiency, neonatal, due to Low breast milk zinc|TNZD|zinc deficiency, transient neonatal|zinc in breast milk, reduced											MESH:C564286|UMLS:C1842486|OMIM:608118																		owl:Class
MONDO:0001549	biolink:NamedThing	hemolytic-uremic syndrome	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	mondoexuq1wtf	hemolytic uremic syndrome|acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')|HUS|haemolytic-uraemic syndrome											MESH:D006463|NCIT:C75545|ICD10:D59.3|Orphanet:544458|SCTID:111407006|GARD:0006588|UMLS:C0019061|ICD9:283.11|COHD:197253|DOID:12554|OMIMPS:235400																		owl:Class
MONDO:0018565	biolink:NamedThing	congenital urachal anomaly	Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.	mondoexuq1wtf												Orphanet:435743																		owl:Class
MONDO:0015934	biolink:NamedThing	non-syndromic urogenital tract malformation of male and female		mondoexuq1wtf	nonsyndromic urogenital tract malformation of male and female|isolated urogenital tract malformation of male and female					Editor note: consider obsoleting as semantics not clear						Orphanet:182124																		owl:Class
MONDO:0006602	biolink:NamedThing	porokeratosis	A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.	mondoexuq1wtf	porokeratosis (disease)|porokeratosis		porokeratosis (disease)									OMIMPS:175800|Orphanet:79358|ICD9:757.39|UMLS:C0162839|Wikipedia:Porokeratosis|HP:0200044|MedDRA:10036175|SCTID:400080004|ICD10:L56.5|ICD9:692.75|NCIT:C85019|ICD10:Q82.8|DOID:3805|EFO:1000757																		owl:Class
MONDO:0004141	biolink:NamedThing	melanomatosis		mondoexuq1wtf	melanomatosis											DOID:7206|NCIT:C9499|UMLS:C1334691																		owl:Class
MONDO:0001277	biolink:NamedThing	cerebral arteritis	An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.	mondoexuq1wtf	inflammation of cerebral artery|cerebral artery inflammation											DOID:11390|SCTID:28366008|ICD9:437.4|UMLS:C0007773|COHD:380747																		owl:Class
MONDO:0003346	biolink:NamedThing	central nervous system vasculitis	Vasculitis affecting the blood vessels of the brain and/or spinal cord.	mondoexuq1wtf	central nervous system vasculitis|vasculitis of central nervous system											DOID:525|UMLS:C0751878|MESH:D020293|NCIT:C84622																		owl:Class
MONDO:0018222	biolink:NamedThing	X-linked intellectual disability due to GRIA3 anomalies		mondoexuq1wtf												ICD10:F72|Orphanet:364028																		owl:Class
MONDO:0043275	biolink:NamedThing	TORCH syndrome	A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.	mondoexuq1wtf	toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|TORCH infection|TORCH syndrome|torch syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome											UMLS:C0270173|GARD:0007781|SCTID:41679006|NCIT:C98609																		owl:Class
MONDO:0016624	biolink:NamedThing	inherited deficiency anemia		mondoexuq1wtf	constitutional rare deficiency anemia											Orphanet:248296																		owl:Class
MONDO:0003743	biolink:NamedThing	heart malignant hemangiopericytoma	A malignant hemangiopericytoma arising in the heart.	mondoexuq1wtf	heart spindle cell tumor|malignant Cardiac hemangiopericytoma|malignant hemangiopericytoma of the heart|malignant hemangiopericytoma of heart|heart hemangiopericytoma|malignant heart hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						NCIT:C5365|UMLS:C1334567|DOID:6034																		owl:Class
MONDO:0005094	biolink:NamedThing	hemangiopericytoma	An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.	mondoexuq1wtf	malignant hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma [obs]|haemangiopericytic meningioma|hemangiopericytoma											DOID:264|NCIT:C3087|SCTID:134335004|MESH:D006393|ICDO:9150/1																		owl:Class
MONDO:0030910	biolink:NamedThing	intellectual disability, autosomal dominant 45		mondoexuq1wtf	MRD45|intellectual disability, autosomal dominant 45|mental retardation, autosomal dominant 45|autosomal dominant mental retardation 45|autosomal dominant intellectual disability 45											OMIM:617600|UMLS:CN368509|DOID:0080236																		owl:Class
MONDO:0015802	biolink:NamedThing	autosomal dominant non-syndromic intellectual disability	Autosomal dominant form of non-syndromic intellectual disability.	mondoexuq1wtf	non-syndromic intellectual disability, autosomal dominant|autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation|autosomal dominant non-syndromic mental retardation					Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries						Orphanet:178469|UMLS:CN200399|DOID:0060307|GARD:0012107														https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability				owl:Class
MONDO:0013551	biolink:NamedThing	hereditary spastic paraplegia 47	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.	mondoexuq1wtf	SPG47|cerebral palsy, spastic quadriplegic, 5|spastic paraplegia 47, autosomal recessive|AP4B1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in AP4B1|spastic quadriplegic cerebral palsy 5|cerebral palsy, spastic quadriplegic, 5, formerly|CPSQ5|hereditary spastic paraplegia type 47|autosomal recessive spastic paraplegia 47											UMLS:C3279738|OMIM:614066|NCIT:C164224|DOID:0110799																		owl:Class
MONDO:0017241	biolink:NamedThing	AP4-related intellectual disability and spastic paraplegia	A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.	mondoexuq1wtf	AP4 related intellectual disability and spastic paraplegia|AP4 deficiency syndrome|severe intellectual disability and progressive spastic paraplegia											UMLS:CN202757|Orphanet:280763																		owl:Class
MONDO:0017668	biolink:NamedThing	intellectual disability-short stature-hypertelorism syndrome	Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	mondoexuq1wtf	intellectual deficit - short stature - hypertelorism|intellectual disability short stature hypertelorism|Stoll-Géraudel-Chauvin syndrome|mental retardation short stature hypertelorism|Stoll-GC)raudel-Chauvin syndrome											Orphanet:3074|ICD10:Q87.8|UMLS:CN203552|GARD:0003514														https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism				owl:Class
MONDO:0003771	biolink:NamedThing	jugular foramen meningioma	A meningioma that affects the jugular foramen.	mondoexuq1wtf	meningioma of jugular Foramen|meningioma (disease) of jugular foramen|jugular foramen meningioma (disease)|meningioma of the jugular Foramen											DOID:6110|NCIT:C5293|UMLS:C1334298																		owl:Class
MONDO:0007200	biolink:NamedThing	blepharonasofacial malformation syndrome	Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	mondoexuq1wtf	Pashayan-Prozansky syndrome|blepharonasofacial malformation syndrome|Pashayan syndrome											ICD10:Q87.0|OMIM:110050|MESH:C536303|UMLS:C0796197|SCTID:717913006|GARD:0004238|Orphanet:1252														https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome				owl:Class
MONDO:0021358	biolink:NamedThing	neoplasm of hypopharynx	A neoplasm (disease) that involves the hypopharynx.	mondoexuq1wtf	tumor of the hypopharynx|hypopharyngeal tumor|hypopharynx neoplasm (disease)|hypopharyngeal neoplasms|neoplasm of the hypopharynx|tumor of hypopharynx|neoplasm of hypopharynx|hypopharynx neoplasm|hypopharyngeal neoplasm|hypopharynx tumor											SCTID:126686005|NCIT:C3127																		owl:Class
MONDO:0009320	biolink:NamedThing	Hall-Riggs syndrome	Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.	mondoexuq1wtf	Hall Riggs intellectual disability syndrome|HALL-Riggs intellectual disability syndrome|Hall Riggs mental retardation syndrome|HALL-Riggs mental retardation syndrome											ICD10:Q87.8|UMLS:C1856198|SCTID:721008000|OMIM:234250|MESH:C535623|Orphanet:2107|GARD:0002586																		owl:Class
MONDO:0001939	biolink:NamedThing	skin epithelioid hemangioma	A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.	mondoexuq1wtf	histiocytoid hemangioma of the skin|skin epithelioid hemangioma|histiocytoid hemangioma of skin|angiolymphoid hyperplasia of the skin|epithelioid hemangioma of the skin|epithelioid hemangioma of skin|histiocytoid hemangioma of zone of skin|zone of skin histiocytoid hemangioma|angiolymphoid hyperplasia of skin|angiolymphoid cutaneous hyperplasia											SCTID:400131007|UMLS:C0002989|EFO:1001424|NCIT:C7393|DOID:14308																		owl:Class
MONDO:0003110	biolink:NamedThing	skin hemangioma	A hemangioma arising from the skin.	mondoexuq1wtf	hemangioma of zone of skin|hemangioma of skin|skin hemangioma|angioma of the skin|hemangioma of the skin|skin angioma|zone of skin hemangioma|angiomatous naevus of skin|angioma of skin											UMLS:C0687140|NCIT:C4905|SCTID:93471006|DOID:471																		owl:Class
MONDO:0024286	biolink:NamedThing	benign blood vessel neoplasm	A benign neoplasm arising from arteries or veins.	mondoexuq1wtf	benign blood vessel tumor|benign blood vessel neoplasm											UMLS:C0685121|NCIT:C8537																		owl:Class
MONDO:0018921	biolink:NamedThing	Meckel syndrome	Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.	mondoexuq1wtf	Meckel-Gruber syndrome											UMLS:C0265215|ICD9:759.89|ICD10:Q61.9|ICD9:753.10|ICD9:753.1|DOID:0050778|OMIMPS:249000|NCIT:C98978|GARD:0003436|Orphanet:564|SCTID:29076005																		owl:Class
MONDO:0008627	biolink:NamedThing	ureter cancer	A malignant neoplasm involving the ureter	mondoexuq1wtf	malignant tumor of ureter|ureter cancer|malignant ureter neoplasm|malignant tumor of the ureter|malignant neoplasm of the ureter|malignant tumour of ureter|malignant ureter tumor|malignant ureteral tumor|cancer of ureter|ureter, cancer OF|malignant neoplasm of ureter|malignant ureteral neoplasm											ICD9:189.2|MESH:D014516|NCIT:C7543|OMIM:191600|SCTID:363458004|DOID:11819|ICD10:C66|UMLS:C0153619																		owl:Class
MONDO:0021111	biolink:NamedThing	ureter neoplasm	A benign or malignant neoplasm that affects the ureter.	mondoexuq1wtf	ureter neoplasm|ureteral neoplasm|neoplasm of the ureter|tumor of ureter|tumor of the ureter|ureter tumor|ureter neoplasm (disease)|neoplasm of ureter|ureteral tumor|neoplasms of the ureter|neoplasms of ureter											NCIT:C3427|EFO:0003844|SCTID:126882009|ICD9:239.5																		owl:Class
MONDO:0006409	biolink:NamedThing	signet ring cell gastric adenocarcinoma	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.	mondoexuq1wtf	signet Ring cell adenocarcinoma of stomach|signet ring cell carcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell stomach adenocarcinoma|gastric signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the stomach|gastric signet ring cell adenocarcinoma											DOID:8025|UMLS:C1335965|EFO:1000524|NCIT:C5250|ONCOTREE:SSRCC																		owl:Class
MONDO:0005036	biolink:NamedThing	gastric adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the stomach	mondoexuq1wtf	gastric (stomach) adenocarcinoma|adenocarcinoma - stomach|gastric adenocarcinoma|adenocarcinoma of stomach|adenocarcinoma of the stomach|stomach adenocarcinoma|STAD											SCTID:408647009|NCIT:C4004|UMLS:C0278701|ONCOTREE:STAD|EFO:0000503|DOID:3717																		owl:Class
MONDO:0005496	biolink:NamedThing	bile duct carcinoma	A carcinoma that arises from epithelial cells of the bile duct	mondoexuq1wtf	bile duct cancer (including cholangiocarcinoma)|bile duct carcinoma|bile duct cancer|carcinoma of bile duct											DOID:4897|NCIT:C27814|EFO:0005540|UMLS:C0740277																		owl:Class
MONDO:0016955	biolink:NamedThing	partial duplication of the long arm of chromosome 4	Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	4q duplication|Duplication 4q syndrome, partial|distal 4q trisomy|partial trisomy of chromosome 4q|partial duplication of the long arm of chromosome type 4|chromosome 4, partial trisomy 4q|partial trisomy 4q syndrome|4q trisomy|partial duplication of chromosome 4q|partial trisomy distal 4q|partial trisomy 4q|partial trisomy of the long arm of chromosome 4|dup(4q) syndrome, partial|trisomy 4q|chromosome 4q duplication|Duplication 4q											UMLS:C0795812|DOID:0111159|GARD:0005347|MESH:C537644|ICD10:Q92.3|Orphanet:262860																		owl:Class
MONDO:0009262	biolink:NamedThing	GM1 gangliosidosis type 3	GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.	mondoexuq1wtf	GM1-gangliosidosis, type III|GM1-gangliosidosis, type 3|Beta-galactosidase deficiency type 3|gangliosidosis GM1 type 3|gangliosidosis generalized GM1 chronic type|gangliosidosis, generalized GM1, chronic type|gangliosidosis, generalized GM1, adult type|adult GM1 gangliosidosis|adult-onset GM1 gangliosidosis|gangliosidosis, generalized GM1, type 3											Orphanet:79257|OMIM:230650|DOID:0080489|ICD10:E75.1|GARD:0002431|SCTID:238027003														https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3				owl:Class
MONDO:0008000	biolink:NamedThing	migraine with or without aura, susceptibility to, 1		mondoexuq1wtf	migraine with or without aura, susceptibility to, type 1|migraine with or without aura, susceptibility to, 1|Mgau|Mgr1|migraine											SCTID:37796009|ICD9:346.80|OMIM:157300|COHD:318736|ICD9:346.90																		owl:Class
MONDO:0100246	biolink:NamedThing	migraine with or without aura, susceptibility to	An inherited susceptibility or predisposition to developing migraines with or without aura.	mondoexuq1wtf	migraine with or without aura, susceptibility to|migraine with or without aura, susceptibility							http://orcid.org/0000-0001-5208-3432				OMIMPS:157300																		owl:Class
MONDO:0002435	biolink:NamedThing	oculomotor nerve neoplasm	A neoplasm involving a oculomotor nerve.	mondoexuq1wtf	IIIrd cranial nerve tumor|oculomotor nerve neoplasm (disease)|cranial nerve III tumor|oculomotor nerve neoplasm|neoplasm of oculomotor nerve|oculomotor nerve tumor|tumor of oculomotor nerve											ICD9:239.7|NCIT:C6994|SCTID:126969002|UMLS:C1263895|DOID:2817																		owl:Class
MONDO:0043320	biolink:NamedThing	piriformis syndrome	A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.	mondoexuq1wtf	syndrome, piriformis muscle|deep gluteal syndrome|syndromes, piriformis muscle|hip socket neuropathy|Pseudosciatica|pelvic outlet syndrome|wallet sciatica|piriformis syndromes|muscle syndromes, piriformis|piriformis syndrome|syndromes, piriformis|pyriformis syndrome|piriformis muscle syndromes|syndrome, piriformis|muscle syndrome, piriformis|piriformis muscle syndrome											SCTID:129179000|MESH:D055958|GARD:0010026|NCIT:C85012|UMLS:C0458224																		owl:Class
MONDO:0024333	biolink:NamedThing	sciatica	A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.	mondoexuq1wtf	sciatic Neuralgias|sciatic neuralgia|bilateral sciaticas|neuralgia, sciatic|bilateral sciatica|sciatica, bilateral|neuralgias, sciatic											MESH:D012585|SCTID:23056005|ICD9:724.3																		owl:Class
MONDO:0010035	biolink:NamedThing	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.	mondoexuq1wtf	SLOS|Rutledge lethal multiple congenital anomaly syndrome|RSH syndrome|polydactyly, sex reversal, renal hypoplasia, and unilobular lung|SLO syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|Smith Lemli Opitz syndrome|Smith-Lemli-Opitz syndrome|lethal acrodysgenital syndrome|Smith-Opitz-inborn syndrome											OMIM:270400|SCTID:43929004|NCIT:C85071|UMLS:C0175694|DOID:14692|ICD10:E78.72|ICD10:Q87.1|ICD9:759.89|GARD:0005683|Orphanet:818|MESH:D019082														https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome				owl:Class
MONDO:0017971	biolink:NamedThing	46,XY disorder of sex development due to a cholesterol synthesis defect		mondoexuq1wtf	46,XY DSD due to a cholesterol synthesis defect											Orphanet:325511|UMLS:CN227234																		owl:Class
MONDO:0008929	biolink:NamedThing	cataract-intellectual disability-hypogonadism syndrome	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	mondoexuq1wtf	Martsolf syndrome|MARTSOLF syndrome|cataract-intellectual disability-hypogonadism|cataract-mental retardation-hypogonadism											Orphanet:1387|DOID:0111586|OMIM:212720|MESH:C536028|UMLS:C0796037|GARD:0003406|SCTID:722380003|ICD10:Q87.8																		owl:Class
MONDO:0034142	biolink:NamedThing	pancreatic agenesis-holoprosencephaly syndrome		mondoexuq1wtf												Orphanet:556955																		owl:Class
MONDO:0021227	biolink:NamedThing	adrenal gland neoplasm	A neoplasm (disease) that involves the adrenal gland.	mondoexuq1wtf	ADRENALGLAND|adrenal tumor|neoplasm of the adrenal gland|adrenal neoplasm|adrenal gland neoplasm (disease)|tumor of the adrenal gland|neoplasm of adrenal gland|tumor of adrenal gland|adrenal gland tumor|adrenal neoplasms											EFO:0003850|ONCOTREE:ADRENALGLAND|NCIT:C2859																		owl:Class
MONDO:0002082	biolink:NamedThing	endocrine gland neoplasm	A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.	mondoexuq1wtf	endocrine tumor|tumor of endocrine gland|endocrine gland neoplasm (disease)|malignant endocrine tumor|endocrine gland tumor|endocrine system tumor|neoplasm of endocrine gland|endocrine system neoplasm|endocrine neoplasm											SCTID:387922007|NCIT:C3010|EFO:0003769|ICD9:239.7																		owl:Class
MONDO:0013642	biolink:NamedThing	holoprosencephaly 11	Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.	mondoexuq1wtf	holoprosencephaly 11|holoprosencephaly type 11|holoprosencephaly caused by mutation in CDON|HPE11|CDON holoprosencephaly											UMLS:C3280215|OMIM:614226|DOID:0110877																		owl:Class
MONDO:0044651	biolink:NamedThing	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		mondoexuq1wtf												Orphanet:496756																		owl:Class
MONDO:0017247	biolink:NamedThing	communicating congenital bronchopulmonary-foregut malformation		mondoexuq1wtf												ICD10:Q33.2|Orphanet:280821																		owl:Class
MONDO:0017843	biolink:NamedThing	congenital pulmonary sequestration	A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.	mondoexuq1wtf	congenital sequestration of lung|pulmonary sequestration|congenital bronchopulmonary sequestration|sequestered lobe (pulmonary sequestration)|bronchopulmonary sequestration											Orphanet:3161|NCIT:C97124|ICD10:Q33.2|GARD:0004593|MESH:D001998|UMLS:C4020703|SCTID:18620009																		owl:Class
MONDO:0015225	biolink:NamedThing	arthrogryposis syndrome		mondoexuq1wtf												ICD10:Q68.8|Orphanet:109007																		owl:Class
MONDO:0009024	biolink:NamedThing	cortical blindness-intellectual disability-polydactyly syndrome	This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.	mondoexuq1wtf	cortical blindness, retardation, and postaxial polydactyly											UMLS:C1857568|Orphanet:1389|MESH:C565674|GARD:0001548|OMIM:218010														https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome				owl:Class
MONDO:0020516	biolink:NamedThing	thymic neuroendocrine carcinoma	Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.	mondoexuq1wtf	neuroendocrine carcinoma of thymus|thymus neuroendocrine carcinoma|thymic neuroendocrine carcinoma											SCTID:716653001|Orphanet:99869|UMLS:CN207412|ICD10:C37|UMLS:C2210965																		owl:Class
MONDO:0002120	biolink:NamedThing	neuroendocrine carcinoma	A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.	mondoexuq1wtf	NEC|neuroendocrine carcinoma|neuroendocrine cancer											DOID:1800|SCTID:253000007|MESH:D018278|NCIT:C3773|UMLS:C0206695|ICDO:8246/3																		owl:Class
MONDO:0011150	biolink:NamedThing	acroosteolysis-keloid-like lesions-premature aging syndrome		mondoexuq1wtf	premature aging syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|progeroid syndrome, Penttinen type|Penttinen-aula syndrome|PENTT|premature aging syndrome Penttinen type											UMLS:C1866182|Orphanet:363665|ICD10:E34.8|GARD:0004276|OMIM:601812|MESH:C536653|GARD:0004498																		owl:Class
MONDO:0012748	biolink:NamedThing	primary ciliary dyskinesia 7	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 7, with or without situs inversus|ciliary dyskinesia, primary, 7|primary ciliary dyskinesia caused by mutation in DNAH11|CILD7|ciliary dyskinesia, primary, type 7|primary ciliary dyskinesia 7 with or without situs inversus|primary ciliary dyskinesia type 7|DNAH11 primary ciliary dyskinesia											UMLS:C2678473|OMIM:611884|ICD10:Q34.8|MESH:C567504|DOID:0110605																		owl:Class
MONDO:0011007	biolink:NamedThing	diaphragmatic defect-limb deficiency-skull defect syndrome	This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.	mondoexuq1wtf	froster-Huch syndrome|diaphragmatic defect limb deficiency skull defect|froster syndrome|diaphragmatic defects, limb deficiencies, and ossification defects of skull											ICD10:Q87.8|GARD:0002397|SCTID:721095007|MESH:C563380|Orphanet:2141|OMIM:601163														https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome				owl:Class
MONDO:0009635	biolink:NamedThing	microvillus inclusion disease	Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.	mondoexuq1wtf	Davidson's disease|microvillous inclusion disease|Davidson disease|MVID|diarrhea 2, with microvillus atrophy|familial enteropathy, microvillus|congenital microvillus atrophy|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|microvillus inclusion disease|congenital microvillous atrophy|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|microvillus atrophy, congenital|diarrhea 2 with microvillus atrophy|congenital familial protracted diarrhea|MYO5B secretory diarrhea|MVD|secretory diarrhea caused by mutation in MYO5B|DIAR2|intractable diarrhea of infancy											Orphanet:2290|ICD10:P78.3|DOID:0060775|GARD:0007039|MedDRA:10068494|SCTID:235729009|ICD9:579.8|OMIM:251850|UMLS:C0341306																		owl:Class
MONDO:0015182	biolink:NamedThing	congenital enteropathy involving intestinal mucosa development		mondoexuq1wtf												Orphanet:104007																		owl:Class
MONDO:0004862	biolink:NamedThing	vitreous abscess		mondoexuq1wtf												DOID:9723|SCTID:48142003|UMLS:C0042904|ICD9:360.04																		owl:Class
MONDO:0004860	biolink:NamedThing	vitreous disease	A disease involving the vitreous humor.	mondoexuq1wtf	disorder of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease or disorder|vitreous humor disease|disease of vitreous humor											ICD10:H43.39|ICD9:379.24|ICD10:H43.3|DOID:9720																		owl:Class
MONDO:0016805	biolink:NamedThing	isolated oxidative phosphorylation complex disorder		mondoexuq1wtf	isolated respiratory chain complex disorder											Orphanet:254846|UMLS:CN227005																		owl:Class
MONDO:0016387	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder		mondoexuq1wtf	OXPHOS system deficiency|OXPHOS disease											Orphanet:223713|UMLS:CN201288																		owl:Class
MONDO:0100328	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:614231																		owl:Class
MONDO:0005570	biolink:NamedThing	hematologic disease	A disease involving the hematopoietic system.	mondoexuq1wtf	blood dyscrasia|blood disease|hematological system disease|disease of hematopoietic system|disease of the blood and blood-forming organs|hematologic disorder|hematologic and lymphocytic disorder|hematological disease|blood disorder|hematological disorders and malignancies|disorder of hematopoietic system|hematopoietic system disease|rare hematologic disease|hematological disorder|hematopoietic system disease or disorder|hematopoietic disease|disease or disorder of hematopoietic system					placeholder for lymphoid disease						GTR:AN1320635|UMLS:CN206939|UMLS:CN882913|Orphanet:97992|DOID:74|SCTID:414022008|ICD9:289.9|UMLS:C0018939|MESH:D006402|ICD9:280-289.99|EFO:0005803|NCIT:C26323|ICD10:D75.9|ICD9:289.8														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0021574	biolink:NamedThing	oocyte maturation defect 3		mondoexuq1wtf	oocyte maturation defect 3|OOMD3											OMIM:617712																		owl:Class
MONDO:0014769	biolink:NamedThing	inherited oocyte maturation defect		mondoexuq1wtf	oocyte maturation defect|OOMD											UMLS:CN238505|OMIMPS:615774																		owl:Class
MONDO:0017385	biolink:NamedThing	malignant migrating partial seizures of infancy	A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.	mondoexuq1wtf	MMPSI|MMPEI|malignant migrating partial epilepsy of infancy|migrating Partial seizures in infancy|migrating partial seizures of infancy|MPEI|migrating partial epilepsy of infancy|MPSI|malignant migrating Partial seizures in infancy											GARD:0012919|UMLS:CN240507|Orphanet:293181|UMLS:CN203114|NCIT:C125387																		owl:Class
MONDO:0015922	biolink:NamedThing	channelopathy with epilepsy		mondoexuq1wtf												Orphanet:182083																		owl:Class
MONDO:0014716	biolink:NamedThing	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		mondoexuq1wtf	MINDS syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|SMITH-Kingsmore syndrome|SKS|macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism|Smith-Kingsmore syndrome											EFO:0009050|OMIM:616638|UMLS:C4225259|Orphanet:457485																		owl:Class
MONDO:0011477	biolink:NamedThing	tooth agenesis, selective, 3	Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.	mondoexuq1wtf	hypodontia/oligodontia 3|tooth agenesis caused by mutation in PAX9|tooth agenesis, selective, type 3|PAX9 tooth agenesis|tooth agenesis, selective, 3|STHAG3											UMLS:C1970291|OMIM:604625|MESH:C567036																		owl:Class
MONDO:0005486	biolink:NamedThing	tooth agenesis	Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.	mondoexuq1wtf	tooth agenesis, selective|hypodontia|selective tooth agenesis|familial tooth agenesis|oligodontia											ICD10:K00.0|EFO:0005410|ICD9:520.0|UMLS:CN169366|SCTID:64969001|Orphanet:99798|OMIMPS:106600|DOID:0050591																		owl:Class
MONDO:0033570	biolink:NamedThing	combined oxidative phosphorylation deficiency 50		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50|COXPD50											OMIM:619025																		owl:Class
MONDO:0014335	biolink:NamedThing	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome		mondoexuq1wtf	MSCCA|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy											Orphanet:404437|OMIM:615760|UMLS:C4014239|ICD10:G98																		owl:Class
MONDO:0017119	biolink:NamedThing	syndrome with microcephaly as major feature		mondoexuq1wtf												UMLS:CN202469|Orphanet:269528																		owl:Class
MONDO:0003199	biolink:NamedThing	anal carcinoma	A carcinoma that arises from epithelial cells of the anus	mondoexuq1wtf	carcinoma of anus|anal carcinoma|cancer of the anus|carcinoma of the anus|anal cancer|anus carcinoma|Ca anus|cancer of anus											DOID:4908|NCIT:C9291|SCTID:448315008|UMLS:C0279637																		owl:Class
MONDO:0044937	biolink:NamedThing	rectal carcinoma	A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	mondoexuq1wtf	rectal carcinoma|rectal cancer|cancer of the rectum|carcinoma of rectum|rectum carcinoma|cancer of rectum|carcinoma of the rectum											NCIT:C9382																		owl:Class
MONDO:0004506	biolink:NamedThing	microscopic breast papilloma	A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.	mondoexuq1wtf	peripheral breast papilloma|microscopic breast papilloma											DOID:8225|NCIT:C36088|UMLS:C1335390																		owl:Class
MONDO:0007077	biolink:NamedThing	Tietz syndrome	Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.	mondoexuq1wtf	hypopigmentation/deafness of Tietz|TADS|hypopigmentation-deafness syndrome|albinism-deafness of Tietz|Tietz syndrome|Tietz albinism-deafness syndrome					Editor note: consider classification under albinism						DOID:0090002|SCTID:403805009|GARD:0007772|UMLS:C0391816|MESH:C536919|OMIM:103500|ICD9:270.2|Orphanet:42665														https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome				owl:Class
MONDO:0011834	biolink:NamedThing	spinocerebellar ataxia type 18	Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.	mondoexuq1wtf	SCA18|sensorimotor neuropathy with ataxia autosomal dominant|SMNA|spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia, autosomal dominant											MESH:C537197|OMIM:607458|SCTID:719250005|UMLS:C1843884|GARD:0009976|DOID:0050969|UMLS:C4304848|ICD10:G11.8|Orphanet:98771																		owl:Class
MONDO:0012471	biolink:NamedThing	Aicardi-Goutieres syndrome 3	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.	mondoexuq1wtf	AGS3|RNASEH2C Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C -related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 3|Aicardi-Goutieres syndrome 3											MESH:C563683|OMIM:610329|UMLS:C1835916|GARD:0010895																		owl:Class
MONDO:0018866	biolink:NamedThing	Aicardi-Goutieres syndrome	Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.	mondoexuq1wtf	Aicardi Goutieres syndrome|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutières syndrome|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|pseudotoxoplasmosis syndrome|Cree encephalitis|AGS|encephalopathy with basal ganglia calcification											OMIMPS:225750|Orphanet:51|ICD9:333.0|MESH:C535607|DOID:0050629|SCTID:230312006|GARD:0000575|ICD10:G31.8																		owl:Class
MONDO:0002602	biolink:NamedThing	central nervous system disease	A disease involving the central nervous system.	mondoexuq1wtf	disorder of central nervous system|central nervous system disease or disorder|central nervous disease|central nervous system disorder|central nervous system disease|disease of the central nervous system|disease of central nervous system|disease or disorder of central nervous system											DOID:331|MESH:D002493|UMLS:C0007682|ICD10:G96.9|SCTID:23853001|NCIT:C2934																		owl:Class
MONDO:0001115	biolink:NamedThing	familial polycythemia	Polycythemia that occurs in groups of related individuals.	mondoexuq1wtf	familial polycythemia|hereditary polycythemia (disease)|primary polycythemia|erythrocytosis, familial											ICD9:289.6|ICD10:D75.0|OMIMPS:133100|NCIT:C26955|DOID:10780																		owl:Class
MONDO:0002734	biolink:NamedThing	anal mucinous adenocarcinoma	An anal adenocarcinoma characterized by the presence of mucoid stroma formation.	mondoexuq1wtf	mucinous adenocarcinoma of anus|anus mucinous adenocarcinoma|mucinous adenocarcinoma of the anus|anal mucinous adenocarcinoma|colloidal adenocarcinoma of the anus|anal colloidal adenocarcinoma|colloidal adenocarcinoma of anus|colloid adenocarcinoma of the anus|anal colloid adenocarcinoma|colloid adenocarcinoma of anus											UMLS:C1332272|DOID:3691|NCIT:C5606																		owl:Class
MONDO:0002652	biolink:NamedThing	anus adenocarcinoma	An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.	mondoexuq1wtf	adenocarcinoma of anus|adenocarcinoma of the anus|anal adenocarcinoma|anus adenocarcinoma											NCIT:C5600|SCTID:423607006|UMLS:C1332257|DOID:3447																		owl:Class
MONDO:0013718	biolink:NamedThing	nephronophthisis 13	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.	mondoexuq1wtf	NPHP13|nephronophthisis 13|nephronophthisis type 13											DOID:0111121|UMLS:C3280612|OMIM:614377																		owl:Class
MONDO:0002333	biolink:NamedThing	splenic abscess	An abscess that is located in the spleen.	mondoexuq1wtf	splenic abscess|splenic abscess (disease)		splenic abscess (disease)									SCTID:82053000|DOID:2530|NCIT:C35347|ICD9:289.59|ICD10:D73.3|HP:0025059|UMLS:C0272412																		owl:Class
MONDO:0004331	biolink:NamedThing	bladder urachal adenocarcinoma	A adenocarcinoma that involves the urachus.	mondoexuq1wtf	urachal adenocarcinoma|bladder urachal adenocarcinoma|urachus adenocarcinoma|adenocarcinoma of the urachus											UMLS:C1511204|GARD:0010186|MESH:C536474|NCIT:C39843|ONCOTREE:UA|DOID:7694																		owl:Class
MONDO:0001378	biolink:NamedThing	urachus cancer	A malignant neoplasm involving the urachus.	mondoexuq1wtf	malignant tumor of urachus|malignant neoplasm of urachus|cancer of urachus|urachus cancer|malignant urachus neoplasm											ICD9:188.7|SCTID:363456000|UMLS:C0153615|DOID:11817|ICD10:C67.7																		owl:Class
MONDO:0032696	biolink:NamedThing	oocyte maturation defect 6		mondoexuq1wtf	OOMD6|OOCYTE MATURATION DEFECT 6											OMIM:618353																		owl:Class
MONDO:0001634	biolink:NamedThing	bladder leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	urinary bladder leiomyoma|leiomyoma of urinary bladder|leiomyoma of the bladder|leiomyoma of the urinary bladder|bladder leiomyoma|leiomyoma of bladder											NCIT:C6178|DOID:13109|UMLS:C1332560																		owl:Class
MONDO:0000384	biolink:NamedThing	bladder benign neoplasm	A benign abnormal growth of the cells that comprise the bladder.	mondoexuq1wtf	benign neoplasm of bladder|benign bladder neoplasm|benign neoplasm of urinary bladder|benign urinary bladder neoplasm|urinary bladder benign neoplasm|benign tumor of the bladder|benign tumor of the urinary bladder|benign urinary bladder tumor|benign neoplasm of the bladder|benign neoplasm of the urinary bladder|benign tumor of urinary bladder|benign bladder tumor|benign tumor of bladder											DOID:0050623|SCTID:91992005|ICD9:223.3|UMLS:C0154017|NCIT:C3618|COHD:201824																		owl:Class
MONDO:0019699	biolink:NamedThing	slender bone dysplasia		mondoexuq1wtf												Orphanet:93440																		owl:Class
MONDO:0013069	biolink:NamedThing	autosomal recessive optic atrophy, OPA7 type		mondoexuq1wtf	optic atrophy 7 with or without auditory neuropathy|OPA7											ICD10:H47.2|Orphanet:227976|MESH:C567833|OMIM:612989|DOID:0111437|UMLS:C2751812																		owl:Class
MONDO:0020237	biolink:NamedThing	lens shape anomaly		mondoexuq1wtf												Orphanet:98655																		owl:Class
MONDO:0014758	biolink:NamedThing	radioulnar synostosis with amegakaryocytic thrombocytopenia 2	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.	mondoexuq1wtf	radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|RUSAT2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia 2											UMLS:C4225221|OMIM:616738																		owl:Class
MONDO:0011555	biolink:NamedThing	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	mondoexuq1wtf	radioulnar synostosis with amegakaryocytic thrombocytopenia|ATRUS syndrome|RUSAT											ICD10:Q87.2|Orphanet:71289|OMIMPS:605432|MESH:C565328|SCTID:721882001																		owl:Class
MONDO:0003708	biolink:NamedThing	extrahepatic bile duct small cell adenocarcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	small cell adenocarcinoma of extrahepatic bile duct|small cell extrahepatic bile duct carcinoma|extrahepatic bile duct small cell NEC|Oat cell extrahepatic bile duct carcinoma|Oat cell carcinoma of extrahepatic bile duct|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell carcinoma of the extrahepatic bile duct|small cell adenocarcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct neuroendocrine carcinoma											UMLS:C1335979|DOID:5926|NCIT:C5845																		owl:Class
MONDO:0018439	biolink:NamedThing	eosinophilic colitis	Inflammation of the colon that is characterized by eosinic infiltration.	mondoexuq1wtf												NCIT:C27053|ICD9:558.42|Orphanet:402035|ICD10:K52.82|ICD10:K52.8|UMLS:C0267448|SCTID:29120000|COHD:77923																		owl:Class
MONDO:0000702	biolink:NamedThing	microscopic colitis	Inflammation of the colon that is only apparent by microscopic examination.	mondoexuq1wtf												Orphanet:58220|SCTID:235753003|NCIT:C38504|UMLS:C0400821|EFO:1001295|MESH:D046728|ICD9:558.9|DOID:0060182																		owl:Class
MONDO:0013155	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3		mondoexuq1wtf	MDDGB3|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy, congenital, POMGNT1-related|congenital muscular dystrophy-POMGNT1 related											OMIM:613151|UMLS:C3150412																		owl:Class
MONDO:0000172	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type B		mondoexuq1wtf												DC:0000660|OMIMPS:613155|UMLS:CN228400																		owl:Class
MONDO:0019010	biolink:NamedThing	congenital isolated hyperinsulinism	Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.	mondoexuq1wtf	hypoglycemia hyperinsulinemic of infancy|congenital hyperinsulinism|hyperinsulinism congenital|PHHI|chi|hyperinsulinism familial with pancreatic nesidioblastosis|hyperinsulinemic hypoglycemia familial|persistent hyperinsulinemic hypoglycemia of infancy											ICD10:E16.1|NCIT:C122923|GARD:0003947|Orphanet:657																		owl:Class
MONDO:0023868	biolink:NamedThing	melanoma associated retinopathy	Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.	mondoexuq1wtf	Melanoma-associated retinopathy|Melanoma-Associated Retinopathy|Melanoma associated retinopathy|Retinopathy, Melanoma-Associated|Melanoma Associated Retinopathy|Retinopathies, Melanoma-Associated|Melanoma-Associated Retinopathies											GARD:0012041|UMLS:C0730308|SCTID:312941005																		owl:Class
MONDO:0006763	biolink:NamedThing	frozen shoulder	Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	mondoexuq1wtf	adhesions-capsulitis,shoulder|adhesive capsulitis of shoulder											EFO:1000941|ICD10:M75.0|DOID:14188|UMLS:C0311223|ICD9:726.0|MedDRA:10017391|SCTID:399114005																		owl:Class
MONDO:0011257	biolink:NamedThing	MPI-CDG	MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	mondoexuq1wtf	Protein-losing enteropathy-hepatic fibrosis syndrome|congenital disorder of glycosylation, type IB|CDG, gastrointestinal type|CDG gastrointestinal type|Mannosephosphate isomerase deficiency|MPI-CDG (CDG-Ib)|CDG syndrome type IB|phosphomannose isomerase deficiency|carbohydrate-deficient glycoprotein syndrome type 1B|congenital disorder of glycosylation type IB|carbohydrate deficient glycoprotein syndrome type IB|CDG 1B|CDG Ib|Mpi deficiency|Saguenay Lac Saint Jean syndrome|CDG1B|SLSJ syndrome|CDG-Ib|Slsj syndrome|Saguenay-Lac Saint-Jean syndrome|congenital disorder of glycosylation type 1b											ICD10:E77.8|Orphanet:79319|MESH:C535740|ICD9:277.6|GARD:0009830|OMIM:602579|SCTID:124668009|DOID:0080554																		owl:Class
MONDO:0018291	biolink:NamedThing	congenital disorder of glycosylation with intestinal involvement		mondoexuq1wtf	CDG with intestinal involvement											Orphanet:371188|ICD10:E77.8																		owl:Class
MONDO:0000465	biolink:NamedThing	atrioventricular block	A heart block that is initiated in the atrioventricular node.	mondoexuq1wtf	atrioventricular block|AVB|AV block|atrioventricular block (disease)|AV nodal block		atrioventricular block (disease)									ICD10:I44.30|ICD10:I44.3|ICD9:426.10|HP:0001678|DOID:0050820|UMLS:C0004245|MESH:D054537|SCTID:233917008|COHD:316135																		owl:Class
MONDO:0005878	biolink:NamedThing	ocular onchocerciasis	Onchocerciasis affecting the eye.	mondoexuq1wtf	onchocerciasis of eyeball of camera-type eye|eyeball of camera-type eye onchocerciasis											UMLS:C0029002|NCIT:C34862|MESH:D015827|EFO:0007398|SCTID:240842000																		owl:Class
MONDO:0008523	biolink:NamedThing	Blau syndrome	Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.	mondoexuq1wtf	early-onset sarcoidosis|synovitis, granulomatous, with uveitis and cranial neuropathies|Blau syndrome|granulomatosis, familial, Blau type|arthrocutaneouveal granulomatosis|ACUG|Jabs syndrome|BLAUS|EOS|sarcoidosis, early-onset|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|granulomatosis, familial juvenile systemic|pediatric granulomatous arthritis|synovitis granulomatous with uveitis and cranial neuropathies											DOID:0050678|ICD9:692.9|MedDRA:10071755|NCIT:C116794|SCTID:699861000|Orphanet:90340|UMLS:C1861303|ICD9:714.89|UMLS:C1836122|OMIM:609464|OMIM:186580|Orphanet:90341|MESH:C538157|GARD:0000304														https://rarediseases.info.nih.gov/diseases/304/blau-syndrome				owl:Class
MONDO:0017023	biolink:NamedThing	secondary interstitial lung disease specific to childhood associated with a granulomatous disease		mondoexuq1wtf	secondary ILD specific to childhood associated with a granulomatous disease											UMLS:CN202336|Orphanet:264714																		owl:Class
MONDO:0001263	biolink:NamedThing	histoplasmosis retinitis	An retinitis caused by infection with Histoplasma capsulatum.	mondoexuq1wtf	Histoplasma capsulatum caused retinitis|histoplasmosis with retinitis|Histoplasma capsulatum retinitis											UMLS:C0153278|SCTID:187058000|ICD9:115.92|DOID:11316																		owl:Class
MONDO:0002099	biolink:NamedThing	Histoplasma capsulatum infectious disease	An disease or disorder caused by infection with Histoplasma capsulatum.	mondoexuq1wtf	infection by Histoplasma capsulatum|darling's disease|infection caused by Histoplasma capsulatum|classical histoplasmosis|American histoplasmosis|Histoplasma capsulatum disease or disorder|small form histoplasmosis|Histoplasma capsulatum caused disease or disorder											ICD9:115.0|DOID:1759|ICD9:115.00|SCTID:76255006|ICD10:B39.4																		owl:Class
MONDO:0018474	biolink:NamedThing	13q12.3 microdeletion syndrome	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	mondoexuq1wtf	monosomy 13q12.3|Del(13)(q12.3)											ICD10:Q93.5|Orphanet:412035|UMLS:CN237459																		owl:Class
MONDO:0009444	biolink:NamedThing	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis with alopecia, eclabium, ectropion, and mental retardation|Jagell Holmgren Hofer syndrome|Jagell-Holmgren-Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|ichthyosis alopecia eclabion ectropion intellectual disability											GARD:0000292|UMLS:C1855788|OMIM:242510|Orphanet:2269|MESH:C537364																		owl:Class
MONDO:0000499	biolink:NamedThing	non-arteritic anterior ischemic optic neuropathy		mondoexuq1wtf	non-arteritic aion|nonarteritic anterior ischemic optic neuropathy											UMLS:C1852242|DOID:0050864																		owl:Class
MONDO:0006649	biolink:NamedThing	anterior ischemic optic neuropathy	Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.	mondoexuq1wtf	ischemic optic neuropathy|optic disc infarction leading to vision loss|aion											DOID:12010|GARD:0009790|MESH:D018917|COHD:373487|SCTID:404659001|ICD10:H47.01|EFO:1000809|MedDRA:10068250|ICD9:377.41|UMLS:C0155305														https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy				owl:Class
MONDO:0001718	biolink:NamedThing	scleritis	Inflammation of the sclera.	mondoexuq1wtf	scleritis (disease)|scleritis		scleritis (disease)									DOID:13452|ICD10:H15.0|HP:0100532|NCIT:C119046|GARD:0012911|ICD10:H15.00|UMLS:C0036416|ICD9:379.00|SCTID:78370002|MESH:D015423|COHD:434944																		owl:Class
MONDO:0015540	biolink:NamedThing	hemophagocytic syndrome	Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).	mondoexuq1wtf	hemophagocytic disorder|FHL|HLH|hemophagocytic lymphohistiocytosis|hemophagocytic syndrome|familial hemophagocytic lymphohistiocytosis|familial erythrophagocytic lymphohistiocytosis|familial histiocytic reticulosis|haemophagocytic syndrome					Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19						Orphanet:158032|ICD10:D76.1|DOID:0050120|COHD:439789|ICD9:288.8|NCIT:C34792|NCIT:C35439|UMLS:C0024291|GARD:0006589|SCTID:234437005|MedDRA:10058125|UMLS:C3887558														https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis				owl:Class
MONDO:0019541	biolink:NamedThing	non-infectious posterior uveitis		mondoexuq1wtf	non-infectious choroiditis											ICD10:H30.0|ICD10:H30.1|Orphanet:90061																		owl:Class
MONDO:0001280	biolink:NamedThing	choroiditis	An inflammatory process that affects the choroid.	mondoexuq1wtf	posterior uveitis (disease)|posterior uveitis|Choroiditides|choroiditis											DOID:11406|SCTID:16553002|ICD10:H30.9|ICD10:H30.8|GARD:0006062|UMLS:C0008526|UMLS:C0042167|NCIT:C35111|MESH:D002833|MedDRA:10036370|ICD10:H30.0|ICD10:H30.2|ICD10:H30.1|Orphanet:280892|HP:0012123																		owl:Class
MONDO:0020214	biolink:NamedThing	posterior corneal dystrophy	Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.	mondoexuq1wtf												ICD10:H18.5|UMLS:CN227822|SCTID:35091000119101|UMLS:C2063478|ICD9:371.58|Orphanet:98627																		owl:Class
MONDO:0005148	biolink:NamedThing	type 2 diabetes mellitus	A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.	mondoexuq1wtf	diabetes mellitis type 2|diabetes, type 2|insulin resistance, susceptibility to|maturity-onset diabetes|type 2 diabetes|noninsulin dependent diabetes|NIDDM|type 2 diabetes mellitus|noninsulin-dependent diabetes mellitus|diabetes mellitis type II|type II diabetes mellitus|diabetes mellitus, noninsulin-dependent|adult onset diabetes|T2DM - type 2 diabetes mellitus|adult-onset diabetes|type II diabetes|type 2 diabetes mellitus non-insulin dependent|non-insulin dependent diabetes mellitus|diabetes mellitus, type 2|non-insulin dependent diabetes|non-insulin-dependent diabetes mellitus|diabetes mellitus, type 2, protection against											SCTID:44054006|UMLS:CN244395|KEGG:04930|COHD:201826|NCIT:C26747|OMIM:125853|ICD10:E11|EFO:0001360|MESH:D003924|DOID:9352																		owl:Class
MONDO:0006430	biolink:NamedThing	splenic mantle cell lymphoma	A mantle cell lymphoma occurring in the spleen.	mondoexuq1wtf	splenic mantle cell lymphoma											EFO:1000549|NCIT:C7306|UMLS:C2018777																		owl:Class
MONDO:0018876	biolink:NamedThing	mantle cell lymphoma	Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.	mondoexuq1wtf	MCL|lymphoma, mantle cell|mantle cell lymphoma|mantle zone lymphoma|LCM|classical mantle cell lymphoma											NCIT:C4337|DOID:0050746|Orphanet:52416|ICD9:200.40|ICDO:9673/3|ONCOTREE:MCL|GARD:0006969|SCTID:443487006|MedDRA:10061275|ICD10:C83.1|EFO:1001469|COHD:40481901|MESH:D020522																		owl:Class
MONDO:0019883	biolink:NamedThing	distal trisomy 9q	Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	mondoexuq1wtf	distal duplication 9q|trisomy 9qter|telomeric duplication 9q|distal trisomy type 9q											ICD10:Q92.3|Orphanet:96101|SCTID:764520001																		owl:Class
MONDO:0016960	biolink:NamedThing	partial trisomy of the long arm of chromosome 9		mondoexuq1wtf	partial duplication of the long arm of chromosome 9|partial trisomy of chromosome 9q|partial duplication of chromosome 9q|partial trisomy of the long arm of chromosome type 9											Orphanet:262905																		owl:Class
MONDO:0009006	biolink:NamedThing	complement component 2 deficiency	Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.	mondoexuq1wtf	C2 deficiency|complement component 2 deficiency|C2 complement deficiency|complement deficiency caused by mutation in C2|C2D											OMIM:217000|GARD:0001452|DOID:0060295|ICD10:D84.1|UMLS:C3150275|NCIT:C119992														https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency				owl:Class
MONDO:0044316	biolink:NamedThing	thrombocytopenia, anemia, and myelofibrosis		mondoexuq1wtf	thrombocytopenia, anemia, and myelofibrosis|THAMY											UMLS:C4479504|OMIM:617441																		owl:Class
MONDO:0043143	biolink:NamedThing	microphthalmia microtia fetal akinesia		mondoexuq1wtf	Thomas-Jewett-Raines syndrome|microphthalmia-microtia-fetal akinesia|Thomas Jewett Raines syndrome|fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus											GARD:0003650|Orphanet:2547|UMLS:C2931224|MESH:C536513																		owl:Class
MONDO:0016878	biolink:NamedThing	partial deletion of chromosome 16		mondoexuq1wtf	partial deletion of chromosome type 16|partial monosomy of chromosome 16											ICD10:Q93.5|Orphanet:261826																		owl:Class
MONDO:0013417	biolink:NamedThing	complement component 3 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.	mondoexuq1wtf	C3 classic complement early component deficiency|complement component 3 deficiency, autosomal recessive|C3 deficiency|C3d|C3 deficiency, autosomal recessive|classic complement early component deficiency caused by mutation in C3											UMLS:C3151071|MESH:C565169|ICD10:D84.1|Orphanet:280133|OMIM:613779|UMLS:C1332655|NCIT:C9468|DOID:8354																		owl:Class
MONDO:0010797	biolink:NamedThing	Pearson syndrome	Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.	mondoexuq1wtf	Pearson marrow-pancreas syndrome|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)|Pearson's marrow/pancreas syndrome|Pearson's syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction											ICD10:D64.0|NCIT:C115326|DOID:0060067|SCTID:237985009|UMLS:C0342784|OMIM:557000|Orphanet:699|ICD9:277.87|GARD:0007343|MedDRA:10062941														https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome				owl:Class
MONDO:0016792	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA		mondoexuq1wtf	mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA|OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA											Orphanet:254767|UMLS:CN202049																		owl:Class
MONDO:0017404	biolink:NamedThing	distal Xq28 microduplication syndrome	Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.	mondoexuq1wtf	distal trisomy Xq28|distal dup(X)q(28)											Orphanet:293939|UMLS:CN203151|ICD10:Q99.8																		owl:Class
MONDO:0002990	biolink:NamedThing	benign deep fibrous histiocytoma	A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.	mondoexuq1wtf	deep benign fibrous histiocytoma|benign deep fibrous histiocytoma											DOID:4419|NCIT:C6492|UMLS:C1266125																		owl:Class
MONDO:0002989	biolink:NamedThing	benign fibrous histiocytoma	A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.	mondoexuq1wtf	fibroxanthoma NOS (morphologic abnormality)|fibrous histiocytoma|fibrous histiocytoma NOS (morphologic abnormality)|benign fibrous histiocytoma (morphologic abnormality)|fibroxanthoma|histiocytoma, fibrous, benign|benign fibrous histiocytoma											MESH:D018219|ICDO:8830/0|NCIT:C3739|DOID:4415|UMLS:C0206644																		owl:Class
MONDO:0009221	biolink:NamedThing	femur-fibula-ulna complex	Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.	mondoexuq1wtf	femur fibula ulna syndrome|femur-fibula-ulna syndrome|PFFD|femur-fibula-ulna dysostosis|FFU complex|Ffu syndrome											UMLS:C1856790|Orphanet:2019|MedDRA:10068448|GARD:0002286|ICD10:Q74.8|MESH:C537918|OMIM:228200																		owl:Class
MONDO:0017533	biolink:NamedThing	postaxial polydactyly type B, unilateral		mondoexuq1wtf												ICD10:Q69.0|Orphanet:295167|UMLS:CN203264																		owl:Class
MONDO:0019674	biolink:NamedThing	postaxial polydactyly type B		mondoexuq1wtf	PAPB											SCTID:715707008|Orphanet:93335|UMLS:C1868120|ICD10:Q69.0																		owl:Class
MONDO:0032810	biolink:NamedThing	oocyte maturation defect 7		mondoexuq1wtf	OOMD7|OOCYTE MATURATION DEFECT 7											OMIM:618550																		owl:Class
MONDO:0011945	biolink:NamedThing	Gaucher disease perinatal lethal	Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).	mondoexuq1wtf	fetal Gaucher disease|perinatal lethal Gaucher disease|Gaucher disease collodion type|Gaucher disease perinatal lethal|Gaucher disease, collodion type|Gaucher's disease perinatal lethal|Gaucher disease, perinatal lethal|Gaucher disease, perinatal-lethal form											UMLS:C1842704|ICD10:E75.2|OMIM:608013|GARD:0010675|Orphanet:85212|MESH:C564306|DOID:0110960														https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal				owl:Class
MONDO:0008108	biolink:NamedThing	oculocerebrocutaneous syndrome	Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.	mondoexuq1wtf	OCCS|oculo-cerebro-cutaneous syndrome|Delleman-Oorthuys syndrome|OCC syndrome|Leichtman-Wood-Rohn syndrome|oculocerebrocutaneous syndrome|Delleman Oorthuys syndrome|orbital cyst with cerebral and focal dermal malformations|Delleman syndrome											OMIM:164180|GARD:0000106|MESH:C538088|ICD9:759.89|UMLS:C0796092|ICD10:Q87.8|SCTID:403554008|Orphanet:1647														https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome				owl:Class
MONDO:0012029	biolink:NamedThing	microcephaly 6, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.	mondoexuq1wtf	CENPJ autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CENPJ|microcephaly 6, primary, autosomal recessive|MCPH6											MESH:C564247|UMLS:C1842109|OMIM:608393|DOID:0070290																		owl:Class
MONDO:0009271	biolink:NamedThing	geroderma osteodysplastica	Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.	mondoexuq1wtf	GO|Walt Disney dwarfism|GERODERMA OSTEODYSPLASTICUM|Gerodermia osteodysplastica|Geroderma osteodysplasticum											UMLS:C0432255|Orphanet:2078|SCTID:254116003|ICD10:Q82.8|MESH:C537799|DOID:0111266|ICD9:759.89|GARD:0000413|OMIM:231070														https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica				owl:Class
MONDO:0007605	biolink:NamedThing	fibrinolytic defect		mondoexuq1wtf	fibrinolytic defect											OMIM:134900|UMLS:C1851184|MESH:C565017																		owl:Class
MONDO:0001325	biolink:NamedThing	penile cancer	A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.	mondoexuq1wtf	malignant penile tumor|malignant penile neoplasm|penis cancer|malignant tumor of penis|cancer of penis|malignant neoplasm of the penis|penile cancer|penile Ca|malignant neoplasm of penis|malignant neoplasm of body of penis|Ca penis|penile neoplasm|malignant penis neoplasm|malignant tumor of the penis											ICD10:C60.8|ICD9:187.3|SCTID:363516004|ICD10:C60.0|ICD10:C60|ICD10:C60.1|UMLS:CN226091|ICD9:187.4|NCIT:C7547|DOID:11615|ICD10:C60.2|ICD10:C60.9|Orphanet:398043																		owl:Class
MONDO:0005836	biolink:NamedThing	male reproductive organ cancer	A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.	mondoexuq1wtf	male reproductive organ cancer|malignant neoplasm of the Male reproductive system|tumor of male reproductive system|malignant tumor of male genital organ|malignant neoplasm of male genital organs|malignant tumor of the Male reproductive system|malignant neoplasm of male genital organ|cancer of male reproductive organ|malignant tumor of Male reproductive system|malignant male reproductive organ neoplasm|malignant Male reproductive system neoplasm|malignant Male reproductive system tumor|male reproductive system neoplasm|malignant neoplasm of male genital organ, site unspecified|malignant neoplasm of male genital organ or tract|malignant tumor of male reproductive system|malignant neoplasm of male reproductive organ|male genital neoplasm|male genital cancer|malignant neoplasm of Male reproductive system|neoplasm of male genital organ											MESH:D005834|ICD10:C60-C63|ICD9:187.9|NCIT:C8561|EFO:0007355|SCTID:363515000|ICD9:187.8|DOID:3856|ICD10:C63.9																		owl:Class
MONDO:0001870	biolink:NamedThing	acute poststreptococcal glomerulonephritis	Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.	mondoexuq1wtf	post-streptococcal glomerulonephritis											UMLS:C0403414|SCTID:68544003|DOID:14064																		owl:Class
MONDO:0014797	biolink:NamedThing	lymphedema, hereditary, type III		mondoexuq1wtf	lymphedema, hereditary, type III|lymphedema, hereditary, 3|generalized lymphatic dysplasia of Fotiou|lymphedema, hereditary, III|LMPH3											UMLS:C4225184|OMIM:616843|EFO:0009153																		owl:Class
MONDO:0004005	biolink:NamedThing	rete ovarii adenoma	An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.	mondoexuq1wtf	rete ovarii adenoma|adenoma, rete ovarii, benign											NCIT:C40018|DOID:6837|UMLS:C1514905																		owl:Class
MONDO:0004016	biolink:NamedThing	pineal region mature teratoma		mondoexuq1wtf	mature teratoma of the pineal region|mature teratoma of pineal area|mature teratoma of pineal region|pineal area mature teratoma|mature teratoma of the pineal area											UMLS:C1335417|NCIT:C6754|DOID:6857																		owl:Class
MONDO:0003733	biolink:NamedThing	central nervous system mature teratoma	A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)	mondoexuq1wtf	mature teratoma|mature teratoma of the CNS|CNS mature teratoma|mature teratoma of central nervous system|mature teratoma of the central nervous system|mature teratoma of CNS|central nervous system mature teratoma											NCIT:C7013|DOID:6017|ONCOTREE:BMT|UMLS:C1332886																		owl:Class
MONDO:0013458	biolink:NamedThing	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome		mondoexuq1wtf	HUPRA syndrome|HUPRAS|Hupra syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome											UMLS:C3151209|OMIM:613845|ICD10:N15.8|Orphanet:363694																		owl:Class
MONDO:0015852	biolink:NamedThing	excess breast volume or number		mondoexuq1wtf												Orphanet:180170																		owl:Class
MONDO:0002657	biolink:NamedThing	breast disease	A disease involving the breast.	mondoexuq1wtf	disease of breast|disease or disorder of breast|disorder of breast|breast disorder|breast disease|breast diseases|breast disease or disorder											ICD9:610-612.99|SCTID:79604008|ICD9:611.8|DOID:3463|COHD:77030|ICD9:611.9|NCIT:C26709|MESH:D001941|ICD10:N60-N65|ICD10:N64.9|UMLS:C0006145																		owl:Class
MONDO:0007123	biolink:NamedThing	ankyloblepharon filiforme adnatum-cleft palate syndrome		mondoexuq1wtf	ankyloblepharon filiforme congenitum|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip|ankyloblepharon filiforme adnatum|AFA|ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme adnatum cleft palate											Orphanet:1072|UMLS:C1302999|MESH:C536373|OMIM:106250|SCTID:400952003|ICD10:Q87.0|GARD:0000696																		owl:Class
MONDO:0020156	biolink:NamedThing	syndromic ankyloblepharon		mondoexuq1wtf												Orphanet:98565|UMLS:CN227801																		owl:Class
MONDO:0021543	biolink:NamedThing	hemangioma of gingiva	A hemangioma that involves the gingiva.	mondoexuq1wtf	gingiva hemangioma|angioma of the gingiva|gum hemangioma|gingival hemangioma|hemangioma of the gingiva|hemangioma of gum|gum angioma|gingival angioma|angioma of gingiva|angioma of the gum|hemangioma of the gum|angioma of gum											NCIT:C4831|UMLS:C0582885|ICD9:228.09|SCTID:304990002																		owl:Class
MONDO:0021491	biolink:NamedThing	benign neoplasm of gum	A benign neoplasm that involves the gingiva.	mondoexuq1wtf	benign gingival neoplasm|benign tumor of gingiva|benign neoplasm of the gingiva|benign tumor of the gingiva|benign gum tumor|benign tumor of gum|benign tumor of the gum|benign gum neoplasm|benign neoplasm of the gum|gingiva benign neoplasm|benign gingival tumor|benign neoplasm of gingiva											NCIT:C4598|UMLS:C0347201|SCTID:92126004|ICD9:210.4																		owl:Class
MONDO:0001148	biolink:NamedThing	iliac vein thrombophlebitis	A thrombophlebitis that involves the iliac vein.	mondoexuq1wtf	iliac vein thrombophlebitis|thrombophlebitis of iliac vein|phlebitis and thrombophlebitis of the iliac vein											UMLS:C0347887|ICD10:I80.21|SCTID:42861008|DOID:10880|ICD9:451.81																		owl:Class
MONDO:0002800	biolink:NamedThing	thrombophlebitis	Inflammation of the veins associated with the presence of a thrombus.	mondoexuq1wtf	thrombophlebitis of a superficial leg vein|thrombophlebitis of superficial veins of lower extremity|superficial thrombophlebitis of leg|phlebitis and thrombophlebitis of superficial vessels of lower extremities											SCTID:40283005|UMLS:C0040046|DOID:3875|ICD10:I80.0|NCIT:C3410|MESH:D013924|COHD:320741|ICD9:451.0|ICD9:451.2																		owl:Class
MONDO:0008894	biolink:NamedThing	cataract-hypertrichosis-intellectual disability syndrome	Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	CAHMR syndrome|cataract, hypertrichosis, intellectual disability syndrome|cataract, hypertrichosis, mental retardation syndrome											OMIM:211770|Orphanet:1375|ICD10:Q87.8|MESH:C537959|SCTID:722379001|UMLS:C0796282																		owl:Class
MONDO:0010051	biolink:NamedThing	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.	mondoexuq1wtf	spastic quadriplegia retinitis pigmentosa intellectual disability|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia, retinitis pigmentosa, and mental retardation|spastic quadriplegia retinitis pigmentosa mental retardation|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|spastic quadriplegia, retinitis pigmentosa, and intellectual disability											Orphanet:3011|OMIM:270950|UMLS:C1849112|GARD:0004932|MESH:C564808																		owl:Class
MONDO:0021229	biolink:NamedThing	ciliary body neoplasm	A neoplasm (disease) that involves the ciliary body.	mondoexuq1wtf	ciliary body tumor|tumor of ciliary body|ciliary body neoplasm (disease)|neoplasm of ciliary body|tumor of the ciliary body|neoplasm of the ciliary body											NCIT:C4364|UMLS:C0339349																		owl:Class
MONDO:0008016	biolink:NamedThing	trismus-pseudocamptodactyly syndrome		mondoexuq1wtf	Hecht-Beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|distal arthrogryposis type 7|Hecht syndrome|arthrogryposis, distal, type 7|trismus-pseudocamptodactyly syndrome|Dutch-Kentucky syndrome|DA7|arthrogryposis distal type 7											OMIM:158300|UMLS:C0265226|SCTID:8757006|ICD9:759.89|Orphanet:3377|ICD10:Q68.8|GARD:0002621|MESH:C535857																		owl:Class
MONDO:0019186	biolink:NamedThing	Q fever	A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.	mondoexuq1wtf	Coxiellosis|query fever|infection due to Coxiella burnetii|nine Mile fever|quadrilateral fever|Coxiella burnetii infectious disease|Coxiella burnetii fever|Q fever pneumonia|Coxiella burnetii disease or disorder|Coxiella burnetii caused disease or disorder											MedDRA:10037688|MESH:D011778|GARD:0007515|NCIT:C34970|MedDRA:10037731|COHD:434567|ICD9:083.0|SCTID:186788009|DOID:11100|ICD10:A78|Orphanet:781|UMLS:C0034362|EFO:0005224														https://rarediseases.info.nih.gov/diseases/7515/q-fever				owl:Class
MONDO:0011095	biolink:NamedThing	dilated cardiomyopathy 1D	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	mondoexuq1wtf	dilated cardiomyopathy type 1D|left ventricular noncompaction 6|familial isolated dilated cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1D|CMD1D|cardiomyopathy, dilated, type 1D											DOID:0110426|MESH:C563306|UMLS:C1832243|OMIM:601494|ICD10:I42.0																		owl:Class
MONDO:0013833	biolink:NamedThing	keratoconus 7		mondoexuq1wtf	KTCN7|keratoconus 7											UMLS:C3553308|OMIM:614629																		owl:Class
MONDO:0015486	biolink:NamedThing	keratoconus	A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.	mondoexuq1wtf	keratoconus (disease)|noninflammatory corneal thining|KC|keratoconus|conical cornea		keratoconus (disease)									SCTID:65636009|GARD:0006824|ICD9:371.6|COHD:374362|HP:0000563|ICD10:H18.60|MESH:D007640|MedDRA:10023353|UMLS:C0022578|NCIT:C26806|ICD10:H18.6|DOID:10126|OMIMPS:148300|Orphanet:156071|ICD9:371.60																		owl:Class
MONDO:0016256	biolink:NamedThing	Hennekam syndrome	Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.	mondoexuq1wtf	lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia lymphedema syndrome|lymphangiectasies and lymphedema Hennekam type|lymphedem-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia-lymphedema syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome											Orphanet:2136|GARD:0003318|ICD10:Q87.8|ICD9:457.1|OMIMPS:235510|DOID:0060366|SCTID:234146006|UMLS:C0340834																		owl:Class
MONDO:0012958	biolink:NamedThing	multiple sclerosis, susceptibility to, 4		mondoexuq1wtf	MS4|multiple sclerosis, susceptibility to, 4											OMIM:612596																		owl:Class
MONDO:0005301	biolink:NamedThing	multiple sclerosis	A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.	mondoexuq1wtf	generalized multiple sclerosis|insular sclerosis											NCIT:C3243|EFO:0003885|ICD9:340|COHD:374919|DOID:2377|MESH:D009103|SCTID:24700007|ICD10:G35|UMLS:C0026769																		owl:Class
MONDO:0019751	biolink:NamedThing	autoinflammatory syndrome	A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.	mondoexuq1wtf						Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom						MedDRA:10072220|UMLS:C3890737|NCIT:C119050|UMLS:C3267073|Orphanet:93665																		owl:Class
MONDO:0032889	biolink:NamedThing	Poirier-Bienvenu neurodevelopmental syndrome		mondoexuq1wtf	POBINDS|POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME											OMIM:618732																		owl:Class
MONDO:0015353	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5A		mondoexuq1wtf	distal hereditary motor neuropathy type V|neuronopathy, distal hereditary motor, type 5A|distal spinal muscular atrophy type 5|neuronopathy, distal hereditary motor, type 5|neuropathy, distal hereditary motor, type 5A|dHMN 5A|dHMN5|spinal muscular atrophy, distal, type 5A|spinal muscular atrophy, distal, with upper limb predominance|neuronopathy, distal hereditary motor, type VA|HMN 5A|distal HMN V|spinal muscular atrophy, distal, type 5|HMN5A											DOID:0111204|UMLS:C1833308|OMIM:600794|ICD10:G12.2																		owl:Class
MONDO:0100350	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5		mondoexuq1wtf	dHMN5|distal hereditary motor neuropathy type V|distal spinal muscular atrophy type 5|distal HMN V							http://orcid.org/0000-0001-5208-3432				Orphanet:139536																		owl:Class
MONDO:0009778	biolink:NamedThing	olivopontocerebellar atrophy II, autosomal recessive		mondoexuq1wtf	olivopontocerebellar atrophy II, autosomal recessive|OPCA II, Fickler-Winkler type											OMIM:258300|MESH:C564930|UMLS:C1850319																		owl:Class
MONDO:0015743	biolink:NamedThing	idiopathic bilateral vestibulopathy	Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	mondoexuq1wtf												Orphanet:171684|SCTID:737580004|UMLS:C4545229|ICD10:H81.8																		owl:Class
MONDO:0009210	biolink:NamedThing	congenital factor V deficiency	Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.	mondoexuq1wtf	factor 5 deficiency|deficiency, labile|Owren disease|Owren Parahemophilia|hereditary Factor V deficiency|labile factor deficiency|hereditary hypoproaccelerinaemia|Parahemophilia|hereditary factor V deficiency|factor V deficiency|Proaccelerin deficiency|labile Factor deficiency											NCIT:C98938|UMLS:C0015499|OMIM:227400|ICD10:D68.2|MedDRA:10048930|Orphanet:326|MESH:D005166|GARD:0002237|DOID:2216|SCTID:88776002														https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency				owl:Class
MONDO:0002063	biolink:NamedThing	breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas.	mondoexuq1wtf	papillomatosis of the breast|papillomatosis of breast|breast papillomatosis											DOID:1634|NCIT:C6977|UMLS:C1332636																		owl:Class
MONDO:0009419	biolink:NamedThing	Woodhouse-Sakati syndrome	Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.	mondoexuq1wtf	woodhouse-Sakati syndrome|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|woodhouse Sakati syndrome|diabetes-hypogonadism-deafness-intellectual disability syndrome											UMLS:C0342286|ICD9:759.89|ICD10:Q87.8|Orphanet:3464|MESH:C536742|GARD:0005592|OMIM:241080|SCTID:237616002														https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome				owl:Class
MONDO:0002360	biolink:NamedThing	chondroma	A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.	mondoexuq1wtf	chondroma|chondroma, benign|central chondroma											GARD:0006052|MESH:D002812|UMLS:C0936248|NCIT:C53459|DOID:2602|ICDO:9220/0														https://rarediseases.info.nih.gov/diseases/6052/chondroma				owl:Class
MONDO:0000137	biolink:NamedThing	leukoencephalopathy, megalencephalic		mondoexuq1wtf												OMIMPS:604004|DC:0000556																		owl:Class
MONDO:0021475	biolink:NamedThing	benign neoplasm of nasal cavity	A benign neoplasm that involves the nasal cavity.	mondoexuq1wtf	benign tumor of the nasal cavity|benign neoplasm of the nasal cavity|benign nasal cavity tumor|benign nasal cavity neoplasm|nasal cavity benign neoplasm|benign tumor of nasal cavity											SCTID:92241005|NCIT:C4603|ICD9:212.0|UMLS:C0347215																		owl:Class
MONDO:0005280	biolink:NamedThing	prostatitis	An infectious or non-infectious inflammatory process affecting the prostate gland.	mondoexuq1wtf	prostate gland inflammation|inflammation of prostate gland|prostatitis (disease)|prostatitis		prostatitis (disease)									ICD9:601.9|ICD10:N41|NCIT:C26866|ICD9:601|MESH:D011472|DOID:14654|EFO:0003830|HP:0000024|SCTID:9713002|ICD9:601.4|COHD:194997|ICD9:601.8|ICD10:N41.9|UMLS:C0033581																		owl:Class
MONDO:0015210	biolink:NamedThing	syndromic gastroduodenal malformation	A gastroduodenal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndromic gastroduodenal malformation|syndrome associated with gastroduodenal malformation											UMLS:CN226627|Orphanet:108965																		owl:Class
MONDO:0019998	biolink:NamedThing	gastroduodenal malformation		mondoexuq1wtf												Orphanet:97944																		owl:Class
MONDO:0010198	biolink:NamedThing	Wernicke-Korsakoff syndrome	Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.	mondoexuq1wtf	Korsakov's psychosis|Korsakoff's syndrome|Wernicke encephalopathy|transketolase defect|Korsakoff syndrome|Korsakov psychosis|alcohol-induced encephalopathy|Wernicke-Korsakoff syndrome|Korsakoff's psychosis					Editor note: todo check						NCIT:C35764|DOID:10915|MESH:C538669|OMIM:277730|SCTID:69482004|GARD:0006843|EFO:1001242|MedDRA:10047913														https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome				owl:Class
MONDO:0006845	biolink:NamedThing	male genital tuberculosis	Mycobacterium infections of the male reproductive tract (genitalia, male).	mondoexuq1wtf	male genital tuberculosis|genital tuberculosis, Male|Male genital Tuberculoses|Tuberculoses, Male genital|male reproductive system tuberculosis|genital Tuberculoses, Male											SCTID:240379005|EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317																		owl:Class
MONDO:0020091	biolink:NamedThing	male infertility due to obstructive azoospermia		mondoexuq1wtf	Male infertility due to impaired sperm transport											Orphanet:98343|ICD10:N46																		owl:Class
MONDO:0017218	biolink:NamedThing	septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.	mondoexuq1wtf	Septopreoptic HPE											UMLS:CN202699|Orphanet:280195|ICD10:Q04.2																		owl:Class
MONDO:0024417	biolink:NamedThing	perceptual disorders	Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.	mondoexuq1wtf												MESH:D010468																		owl:Class
MONDO:0100391	biolink:NamedThing	acute myeloid leukemia, t(2;12)	Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)	mondoexuq1wtf	AML, t(2;12)																													owl:Class
MONDO:0015720	biolink:NamedThing	moderately severe hemophilia A	Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	moderately severe factor VIII deficiency|moderately severe hemophilia type A											UMLS:CN200231|Orphanet:169805|ICD10:D66																		owl:Class
MONDO:0016067	biolink:NamedThing	Crandall syndrome	This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.	mondoexuq1wtf	alopecia-deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome											SCTID:278098005|GARD:0001561|Orphanet:202|UMLS:C0432348|ICD9:704.8														https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome				owl:Class
MONDO:0015453	biolink:NamedThing	Cogan syndrome	Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.	mondoexuq1wtf	Cogan syndrome|diffuse interstitual keratitis|Cogan's syndrome											ICD10:H16.3|MedDRA:10056667|Orphanet:1467|SCTID:405810005|ICD10:H16.32|MESH:D055952|UMLS:CN199560|DOID:0060216|GARD:0001421																		owl:Class
MONDO:0043176	biolink:NamedThing	phosphoribosylpyrophosphate synthetase deficiency		mondoexuq1wtf	deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency											UMLS:C2931079|GARD:0004337|UMLS:C1291401|HGNC:9462|MESH:C535995|SCTID:124343001|GARD:0001690|MESH:C537897														https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity				owl:Class
MONDO:0019254	biolink:NamedThing	inborn disorder of purine or pyrimidine metabolism		mondoexuq1wtf	inborn errors of purine-pyrimidine metabolism|disorder of purine or pyrimidine metabolism|purine-pyrimidine metabolic disorder|inborn purine-pyrimidine metabolic disorder											ICD10:E79.1|MESH:D011686|UMLS:C0034139|MedDRA:10037546|ICD10:E79.8|ICD10:E79.0|ICD10:E79.9|Orphanet:79224|DOID:653|ICD9:277.2																		owl:Class
MONDO:0024982	biolink:NamedThing	salmonella infections, animal	Infections in animals with bacteria of the genus salmonella.	mondoexuq1wtf	Salmonella infection, animal|animal Salmonella infections|animal Salmonella infection|infection, animal Salmonella|infections, animal Salmonella											UMLS:C0036118|MESH:D012481																		owl:Class
MONDO:0015290	biolink:NamedThing	neurotrophic keratopathy	Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.	mondoexuq1wtf	neurotrophic keratitis											UMLS:C0339296|ICD10:H16.2|Orphanet:137596|MedDRA:10069732|SCTID:128080005																		owl:Class
MONDO:0014978	biolink:NamedThing	preimplantation embryonic lethality 2	Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene.	mondoexuq1wtf	PADI6 preimplantation embryonic lethality|preimplantation embryonic lethality 2|preimplantation embryonic lethality 2; PREMBL2|PREMBL2|preimplantation embryonic lethality type 2|preimplantation embryonic lethality caused by mutation in PADI6											UMLS:C4310659|OMIM:617234																		owl:Class
MONDO:0000218	biolink:NamedThing	preimplantation embryonic lethality		mondoexuq1wtf						Editor note: this is a phenotypic feature rather than disease, consider obsoleting						UMLS:CN282827|OMIMPS:616814|DC:0000733																		owl:Class
MONDO:0001917	biolink:NamedThing	chronic perichondritis of pinna	Chronic form of perichondritis of auricle.	mondoexuq1wtf	chronic perichondritis of auricle|perichondritis of auricle, chronic|chronic pinna perichondritis											ICD9:380.02|UMLS:C0155391|DOID:14243|SCTID:45431004																		owl:Class
MONDO:0002246	biolink:NamedThing	perichondritis of auricle	An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.	mondoexuq1wtf	perichondritis of pinna, unspecified|perichondritis and chondritis of pinna|perichondritis of pinna											COHD:136710|ICD9:380.0|UMLS:C0155389|ICD10:H61.009|ICD10:H61.00|ICD10:H61.0|ICD9:380.00|SCTID:34129005|DOID:222																		owl:Class
MONDO:0008722	biolink:NamedThing	short chain acyl-CoA dehydrogenase deficiency	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.	mondoexuq1wtf	Acads deficiency|SCAD deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|Scad deficiency|Scadh deficiency|SCADD|SCAD|ACADS deficiency|short-chain acyl-coenzyme A dehydrogenase deficiency|acyl-CoA dehydrogenase, short-chain deficiency|ACADSD|acyl-CoA dehydrogenase, short-chain, deficiency OF|short-chain acyl-CoA dehydrogenase deficiency|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency											ICD10:E71.3|OMIM:201470|GARD:0004822|ICD10:E71.312|MESH:C537596|Orphanet:26792|NCIT:C84539|DOID:0080154														https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency				owl:Class
MONDO:0012472	biolink:NamedThing	Aicardi-Goutieres syndrome 4	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.	mondoexuq1wtf	Aicardi-Goutieres syndrome type 4|RNASEH2A-related Aicardi-Goutieres syndrome|RNASEH2A Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|AGS4|Aicardi-Goutieres syndrome 4											GARD:0010896|OMIM:610333|UMLS:C1835912|MESH:C563681																		owl:Class
MONDO:0015912	biolink:NamedThing	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.	mondoexuq1wtf	FTNS|May-Hegglin anomaly|bleeding disorder, Platelet-type, 6|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Sebastian Platelet syndrome|SBS|MYH9-related syndromic thrombocytopenia|macrothrombocytopenia with dispersed leukocytic inclusions|macrothrombocytopenia and progressive sensorineural deafness|May-Hegglin thrombocytopenia|MHA|matins|MYH9 related disorders|MYH-9 related disease|MYH9-related disorder|Alport syndrome with macrothrombocytopenia|Fechtner syndrome|Epstein syndrome|MYH9-related disease|Sebastian syndrome|macrothrombocytopenia, nephritis, and deafness|macrothrombocytopenia with leukocyte inclusions|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|Dohle leukocyte inclusions with giant platelets|macrothrombocytopenia progressive deafness|giant platelet syndrome with thrombocytopenia|MYH9 related thrombocytopenia|MYH9-RD|Sebastian platelet syndrome|Brodie Chole griffin syndrome|Alport syndrome with macrothrombocytopenia, formerly|MYH9-related syndrome											OMIM:605249|NCIT:C131642|DOID:0060651|SCTID:236422008|Orphanet:182050|ICD9:759.89|NCIT:C131646|SCTID:234485006|UMLS:CN226270|UMLS:CN226018|OMIM:153640|GARD:0000180|ICD10:D69.4|Orphanet:1984|NCIT:C131650|ICD9:287.33|SCTID:712922002|SCTID:234484005|UMLS:C0403445|Orphanet:1019|OMIM:155100|Orphanet:850|MESH:C537831|ICD9:582.89|UMLS:CN226030|UMLS:C1834478|GARD:0000179|UMLS:C0398641|Orphanet:807|OMIM:600208|NCIT:C131639														https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia				owl:Class
MONDO:0009092	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.	mondoexuq1wtf	dementia, prefrontal, with bone cysts|presenile dementia with bone cysts|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|NHD|Nasu-Hakola disease|PLOSL|PLO-SL|dementia, progressive, with lipomembranous polycystic osteodysplasia|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly											SCTID:702347001|ICD10:E75.2|OMIMPS:221770|GARD:9921|DOID:0090112|UMLS:C1857316|Orphanet:2770|GARD:0009921|ICD9:758.89																		owl:Class
MONDO:0005632	biolink:NamedThing	acute chest syndrome	A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.	mondoexuq1wtf	acute chest syndrome in sickle cell disease|ACS											MESH:D056586|ICD9:517.3|UMLS:C0742343|DOID:1584|EFO:0007129|COHD:254062|SCTID:372146004|NCIT:C138179																		owl:Class
MONDO:0002851	biolink:NamedThing	mediastinum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.	mondoexuq1wtf	rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of mediastinum|mediastinal rhabdomyosarcoma											NCIT:C6617|DOID:4049|UMLS:C1334677																		owl:Class
MONDO:0002852	biolink:NamedThing	mediastinum sarcoma	A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.	mondoexuq1wtf	mediastinum sarcoma|mediastinal sarcoma|sarcoma of the mediastinum|sarcoma of mediastinum											UMLS:C1334678|DOID:4050|NCIT:C6606																		owl:Class
MONDO:0007374	biolink:NamedThing	Schnyder corneal dystrophy	Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.	mondoexuq1wtf	corneal dystrophy, crystalline, of Schnyder|SCCD|Schnyder crystalline dystrophy sine crystals|SCD|crystalline stromal dystrophy|Schnyder crystalline corneal dystrophy|Schnyder corneal dystrophy|corneal dystrophy, Schnyder|corneal dystrophy crystalline of Schnyder|hereditary crystalline stromal dystrophy of Schnyder											DOID:0060456|MESH:C535475|GARD:0009277|OMIM:121800|ICD10:H18.5|Orphanet:98967|SCTID:419395007																		owl:Class
MONDO:0016009	biolink:NamedThing	fetal trimethadione syndrome	Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.	mondoexuq1wtf												ICD9:759.89|UMLS:C0265373|SCTID:66351003|MESH:C537798|ICD10:Q86.8|Orphanet:1913																		owl:Class
MONDO:0004163	biolink:NamedThing	bladder urachal urothelial carcinoma	A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.	mondoexuq1wtf	bladder urachal urothelial carcinoma											DOID:7244|UMLS:C1511207|NCIT:C39844																		owl:Class
MONDO:0003715	biolink:NamedThing	bladder urachal carcinoma	Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.	mondoexuq1wtf	bladder urachal carcinoma|bladder urachal cancer|urachal carcinoma											DOID:5958|NCIT:C39842|GARD:0007836|MESH:C536475|ONCOTREE:URCA|UMLS:C1511205																		owl:Class
MONDO:0009255	biolink:NamedThing	galactokinase deficiency	Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	mondoexuq1wtf	galactokinase deficiency|hereditary galactokinase deficiency|galactosemia II|galactokinase deficiency galactosemia|galactosemia 2|Galk deficiency|galactosemia type 2|GALK deficiency|GALK-D											UMLS:C0268155|SCTID:124302001|GARD:0002422|OMIM:230200|NCIT:C114767|ICD10:E74.2|ICD10:E74.29|DOID:14695|Orphanet:79237														https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency				owl:Class
MONDO:0001743	biolink:NamedThing	paranasal sinus lymphoma	A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.	mondoexuq1wtf	lymphoma of paranasal sinus|lymphoma of accessory sinus|lymphoma of the paranasal sinus|lymphoma of the accessory sinus|paranasal sinus lymphoma|accessory sinus lymphoma|primary paranasal sinus lymphoma											DOID:1355|UMLS:C1335339|NCIT:C6068																		owl:Class
MONDO:0013206	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 6	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	mondoexuq1wtf	FECD6|corneal dystrophy, Fuchs endothelial, 6|corneal dystrophy, Fuchs endothelial, type 6|corneal dystrophy, Fuchs endothelial, late-onset|Fuchs' endothelial dystrophy caused by mutation in ZEB1|ZEB1 Fuchs' endothelial dystrophy											OMIM:613270|UMLS:C2750448																		owl:Class
MONDO:0005321	biolink:NamedThing	Fuchs' endothelial dystrophy	Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.	mondoexuq1wtf	Fuchs endothelial corneal dystrophy|FCED|Endoepithelial corneal dystrophy|Fuchs' corneal dystrophy|corneal dystrophy, Fuchs endothelial|FECD|late hereditary endothelial dystrophy|Fuchs' endothelial corneal dystrophy|Fuchs endothelial dystrophy											UMLS:C0016781|MESH:D005642|UMLS:CN207231|DC:0000643|ICD10:H18.51|ICD10:H18.5|EFO:0003946|DOID:11555|OMIMPS:136800|NCIT:C84721|Orphanet:98974|SCTID:193839007																		owl:Class
MONDO:0009074	biolink:NamedThing	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.	mondoexuq1wtf	Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY											OMIM:220219|MESH:C535985|ICD10:Q87.8|UMLS:C1857352|Orphanet:1970																		owl:Class
MONDO:0014985	biolink:NamedThing	Fanconi anemia complementation group V	Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.	mondoexuq1wtf	Fanconi Anemia, complementation Group 5|Fanconi anemia complementation group type V|Fanconi anemia caused by mutation in MAD2L2|Fanconi Anemia, complementation group type V|FANCV|MAD2L2 Fanconi anemia|Fanconi anemia, complementation GROUP V|Fanconi Anemia, complementation group V											OMIM:617243|DOID:0111080|UMLS:C4310652																		owl:Class
MONDO:0019391	biolink:NamedThing	Fanconi anemia	Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.	mondoexuq1wtf	Fanconi panmyelopathy|Panmyelopathy, Fanconi|primary erythroid hypoplasia|Fanconi's anemia|pancytopenia, congenital|Fanconi pancytopenia											NCIT:C62505|Orphanet:84|UMLS:C0015625|OMIMPS:227650|ICD9:284.09|ICD10:D61.09|MedDRA:10055206|GARD:0006425|MESH:D005199|SCTID:30575002|ICD10:D61.0|DOID:13636																		owl:Class
MONDO:0018059	biolink:NamedThing	meningococcal meningitis	An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.	mondoexuq1wtf												ICD9:036.0|COHD:438338|DOID:0080176|MedDRA:10027276|ICD10:A39.0|ICD10:A39.0+|SCTID:192644005|Orphanet:33475|MESH:D008585|ICD10:G01*|EFO:1001040|MedDRA:10027249|UMLS:C0025294																		owl:Class
MONDO:0006670	biolink:NamedThing	bacterial meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.	mondoexuq1wtf	Bacteria caused infectious meningitis|Bacteria infectious meningitis|meningitis, bacterial											ICD9:320|UMLS:C0085437|ICD9:320.89|ICD9:320.7|NCIT:C118297|COHD:436091|ICD10:G00|ICD10:G00.9|GARD:0005881|EFO:1000831|MedDRA:10004049|DOID:9470|MESH:D016920|ICD9:320.9|SCTID:95883001														https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis				owl:Class
MONDO:0014447	biolink:NamedThing	Bardet-Biedl syndrome 19	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.	mondoexuq1wtf	Bardet-Biedl syndrome caused by mutation in IFT27|BBS19|Bardet-Biedl syndrome 19|Bardet-Biedl syndrome type 19|IFT27 Bardet-Biedl syndrome											ICD10:Q87.89|DOID:0110141|UMLS:C3889475|OMIM:615996																		owl:Class
MONDO:0034143	biolink:NamedThing	early-onset calcifying leukoencephalopathy-skeletal dysplasia		mondoexuq1wtf												Orphanet:556985																		owl:Class
MONDO:0002519	biolink:NamedThing	anus disease	A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.	mondoexuq1wtf	anus disease|anal ulcer|disorder of anus|anal disorder|disorder of anal region|fissure in ano|Ulcer of anus|anal disease|anal fissure and fistula|anus disease or disorder|anal fissure|disease or disorder of anus|solitary anal ulcer|disease of anus|nontraumatic tear of anus											NCIT:C26695|UMLS:C0016167|UMLS:C0003462|SCTID:32110003|UMLS:C1301262|DOID:3128|MESH:D001004																		owl:Class
MONDO:0010284	biolink:NamedThing	Armfield syndrome	X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	mondoexuq1wtf	intellectual disability syndrome, X-linked, Armfield type|mental retardation, X-linked, syndromic, Armfield type|syndromic X-linked intellectual disability Armfield type|X-linked intellectual disability, Armfield type|MRXSA|Armfield syndrome|mental retardation syndrome, X-linked, Armfield type|Armfield X-linked mental retardation syndrome|intellectual disability, X-linked, syndromic, Armfield type|Armfield X-linked intellectual disability syndrome|syndromic X-linked mental retardation Armfield type											UMLS:C1846057|ICD10:Q87.8|OMIM:300261|DOID:0050764|MESH:C564551|SCTID:719017003|Orphanet:85276																		owl:Class
MONDO:0020699	biolink:NamedThing	biotin metabolic disease	A deficiency in biotin through either inherited or acquired causes.	mondoexuq1wtf																														owl:Class
MONDO:0045022	biolink:NamedThing	disorder of organic acid metabolism	A disease that has its basis in the disruption of organic acid metabolic process.	mondoexuq1wtf	disorder of organic acid metabolism|organic acid metabolism disorder|organic acid metabolic process disease|disorder of organic acid metabolic process											SCTID:116021002|ICD9:277.89																		owl:Class
MONDO:0002822	biolink:NamedThing	trabecular adenocarcinoma	A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.	mondoexuq1wtf	trabecular adenocarcinoma (morphologic abnormality)|trabecular carcinoma|trabecula adenocarcinoma|Merkel cell carcinoma|trabecular adenocarcinoma											NCIT:C4068|DOID:3965|ICDO:8190/3|ICDO:8332/3|UMLS:C0302182																		owl:Class
MONDO:0021580	biolink:NamedThing	neoplasm of jaw	A neoplasm (disease) that involves the jaw skeleton.	mondoexuq1wtf	jaw skeleton tumor|neoplasm of jaw skeleton|jaw skeleton neoplasm|jaw skeleton neoplasm (disease)|tumor of jaw skeleton											ICD9:239.89|SCTID:126634001																		owl:Class
MONDO:0009485	biolink:NamedThing	oculocerebrofacial syndrome, Kaufman type		mondoexuq1wtf	BPIDS|KOS|blepharophimosis-ptosis-intellectual disability syndrome|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|Kaufman oculocerebrofacial syndrome|kos|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet											OMIM:244450|Orphanet:2707|UMLS:C1855663|MESH:C537013|ICD10:Q87.0|SCTID:722056009|GARD:0003084|DOID:0111456																		owl:Class
MONDO:0012842	biolink:NamedThing	CMM7		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, 7|CMM7											OMIM:612263																		owl:Class
MONDO:0014331	biolink:NamedThing	Moyamoya disease with early-onset achalasia	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	mondoexuq1wtf	Moyamoya disease 6 with achalasia|MYMY6											SCTID:718551002|OMIM:615750|ICD10:I67.5|UMLS:C3810403|Orphanet:401945																		owl:Class
MONDO:0014086	biolink:NamedThing	osteogenesis imperfecta type 15	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.	mondoexuq1wtf	osteogenesis imperfecta type XV|OI, type 15|WNT1 osteogenesis imperfecta|osteogenesis imperfecta, type 15|OI15|osteogenesis imperfecta, type XV|osteogenesis imperfecta caused by mutation in WNT1											DOID:0110347|OMIM:615220|UMLS:C3808844|ICD10:Q78.0																		owl:Class
MONDO:0015198	biolink:NamedThing	aniridia-ptosis-intellectual disability-familial obesity syndrome	Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	aniridia - ptosis - intellectual disability - familial obesity											UMLS:CN226622|GARD:0000689|SCTID:720987001|Orphanet:1067																		owl:Class
MONDO:0014895	biolink:NamedThing	developmental and epileptic encephalopathy, 40	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.	mondoexuq1wtf	early infantile epileptic encephalopathy caused by mutation in GUF1|epileptic encephalopathy, early infantile, 40; EIEE40|EIEE40|DEE40|GUF1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 40|epileptic encephalopathy, early infantile, type 40											UMLS:C4310737|OMIM:617065|DOID:0080427																		owl:Class
MONDO:0018097	biolink:NamedThing	West syndrome	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.	mondoexuq1wtf	intellectual disability-hypsarrhythmia syndrome|X-linked infantile spasm syndrome|West's syndrome|infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|X-linked infantile spasms|Infantile spasms syndrome					Editor note: check placement of OMIM IDs and EIEE subtypes						GARD:0007887|NCIT:C84788|COHD:376105|SCTID:28055006|UMLS:C0037769|ICD9:348.89|DOID:0050562|Orphanet:3451|ICD9:345.60|MedDRA:10021750|ICD10:G40.4																		owl:Class
MONDO:0008756	biolink:NamedThing	alopecia - intellectual disability syndrome	Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	mondoexuq1wtf	alopecia-intellectual disability syndrome|alopecia intellectual disbility syndrome 1|Amr syndrome|alopecia-mental retardation syndrome|Perniola-Krajewska-Carnevale syndrome|AMR syndrome 1|alopecia with severe intellectual deficit											GARD:0000612|SCTID:716191002|ICD10:Q87.8|OMIMPS:203650|DOID:0080627|Orphanet:2850																		owl:Class
MONDO:0017457	biolink:NamedThing	Preaxial polydactyly of toes		mondoexuq1wtf	bifid halluces|bifid great toes|bifid hallux|preaxial polydactyly of foot											Orphanet:295006|ICD10:Q69.2|SCTID:205132000|GARD:0012771																		owl:Class
MONDO:0004082	biolink:NamedThing	childhood immature teratoma of ovary	An immature teratoma that arises from the ovary and occurs in children.	mondoexuq1wtf	childhood immature teratoma of the ovary|pediatric immature teratoma of ovary|pediatric immature teratoma of the ovary|pediatric ovarian immature teratoma|childhood immature ovarian teratoma|childhood ovarian immature teratoma|pediatric immature ovarian teratoma|immature ovarian teratoma of childhood											NCIT:C6547|UMLS:C1332990|DOID:7037																		owl:Class
MONDO:0014135	biolink:NamedThing	pulmonary hypertension, primary, 3	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.	mondoexuq1wtf	primary pulmonary hypertension caused by mutation in CAV1|CAV1 primary pulmonary hypertension|PPH3|pulmonary hypertension, primary, type 3|pulmonary hypertension, primary, 3											OMIM:615343|UMLS:C3809192																		owl:Class
MONDO:0017148	biolink:NamedThing	heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.	mondoexuq1wtf	HpaH|familial pulmonary arterial hypertension|hereditary pulmonary arterial hypertension|FPAH											ICD10:I27.0|NCIT:C121945|SCTID:697897003|OMIMPS:178600|COHD:44783618|UMLS:CN202575|Orphanet:275777																		owl:Class
MONDO:0015991	biolink:NamedThing	citrullinemia	Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).	mondoexuq1wtf	deficiency of citrulline-aspartate ligase|ass deficiency											SCTID:124711003|ICD10:E72.23|NCIT:C84639|ICD10:E72.2|DOID:9273|UMLS:C0175683|Orphanet:187|MESH:D020159																		owl:Class
MONDO:0004739	biolink:NamedThing	urea cycle disorder	A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.	mondoexuq1wtf	inborn urea cycle disorder|disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|inborn disorder of urea cycle metabolism and ammonia detoxification|urea cycle defect|disorder of urea cycle metabolism|UCD|disorder of urea cycle metabolism and ammonia detoxification|urea cycle metabolism disorder											Orphanet:79167|DOID:9267|COHD:434311|SCTID:36444000|NCIT:C84785|ICD9:270.6|ICD10:E72.20|ICD10:E72.2|MESH:D056806|UMLS:C0154246|GARD:0007837																		owl:Class
MONDO:0016779	biolink:NamedThing	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	mondoexuq1wtf	MCA due to 14q32.2 maternally expressed gene defect											DOID:0111712|Orphanet:254519																		owl:Class
MONDO:0014958	biolink:NamedThing	Harel-Yoon syndrome		mondoexuq1wtf	Harel-Yoon syndrome; HAYOS|Harel-Yoon syndrome|HAYOS											UMLS:C4310677|OMIM:617183																		owl:Class
MONDO:0018509	biolink:NamedThing	squamous cell carcinoma of the small intestine	A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.	mondoexuq1wtf	small intestinal squamous cell cancer|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma|squamous cell carcinoma of the small bowel											ICD10:C17.1|Orphanet:423968|ICD10:C17.2|ICD10:C17.0|UMLS:CN237514|UMLS:C1710111|ICD10:C17.8|NCIT:C43534|ICD10:C17.3																		owl:Class
MONDO:0005522	biolink:NamedThing	small intestine carcinoma	A carcinoma that arises from epithelial cells of the small intestine	mondoexuq1wtf	small intestine cancer|small intestinal carcinoma|small intestine cancer, NOS|carcinoma of the small bowel|small intestinal cancer|small intestine carcinoma|cancer of the small bowel|carcinoma of small intestine|small bowel cancer|carcinoma of small bowel|small bowel carcinoma|cancer of small bowel|carcinoma of the small intestine											EFO:0005588|ONCOTREE:SIC|DOID:4907|SCTID:448664009|NCIT:C7724																		owl:Class
MONDO:0021086	biolink:NamedThing	gingival neoplasm	A benign or malignant neoplasm that affects the upper or lower gingiva.	mondoexuq1wtf	tumor of gum|tumor of gingiva|neoplasm of gingiva|neoplasm of the gum|gingiva tumor|gingival tumor|gingiva neoplasm|gingival neoplasm|neoplasm of the gingiva|tumor of the gum|gum neoplasm|gingiva neoplasm (disease)|gum tumor|tumor of the gingiva|neoplasm of gum											SCTID:126792007|UMLS:C0017570|NCIT:C3057																		owl:Class
MONDO:0009550	biolink:NamedThing	renal hypomagnesemia 3	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.	mondoexuq1wtf	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|FHHNC without severe ocular involvement|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|hypomagnesemia 3, renal|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|CLDN16 familial primary hypomagnesemia|hypomagnesemia, isolated renal|isolated renal hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|magnesium, defect in renal tubular transport of|renal hypomagnesemia type 3|primary hypomagnesemia due to defect in renal tubular transport of magnesium|CLDN16 primary hypomagnesemia|primary hypomagnesemia caused by mutation in CLDN16|hypercalciuria, childhood, self-limiting|familial primary hypomagnesemia caused by mutation in CLDN16|HOMG3											OMIM:248250|Orphanet:31043|SCTID:725033008|ICD10:E83.4|MESH:C537153|DOID:0060880																		owl:Class
MONDO:0006510	biolink:NamedThing	renal tubular transport disease	Genetic defects in the selective or non-selective transport functions of the kidney tubules.	mondoexuq1wtf	kidney tubular transport, inborn error|renal absorption disease|renal tubular transport errors|inborn renal tubular transport disorder|disorder of renal absorption|renal tubular transport, inborn error|kidney tubular transport, inborn errors											DOID:447|UMLS:C0035091|EFO:1000647|MESH:D015499																		owl:Class
MONDO:0003953	biolink:NamedThing	pediatric CNS choriocarcinoma	A choriocarcinoma that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	choriocarcinoma of the central nervous system of childhood|choriocarcinoma of the pediatric CNS|choriocarcinoma of pediatric CNS|Central nervous system choriocarcinoma|childhood choriocarcinoma of the central nervous system|choriocarcinoma of childhood CNS|childhood central nervous system choriocarcinoma|childhood CNS choriocarcinoma|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of pediatric central nervous system|choriocarcinoma of the childhood CNS|choriocarcinoma of childhood central nervous system|pediatric central nervous system choriocarcinoma|choriocarcinoma of the childhood central nervous system|choriocarcinoma of the pediatric central nervous system											NCIT:C6206|UMLS:C1377604|DOID:6639																		owl:Class
MONDO:0003750	biolink:NamedThing	childhood central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in children.	mondoexuq1wtf	childhood germ cell tumor of CNS|pediatric germ cell neoplasm of CNS|central nervous system germ cell tumor|childhood CNS germ cell neoplasm|pediatric CNS germ cell neoplasm|childhood germ cell tumor of central nervous system|childhood germ cell tumor of the central nervous system|pediatric germ cell tumor of the central nervous system|pediatric germ cell tumor of central nervous system|childhood germ cell tumor of the CNS|childhood germ cell neoplasm of the CNS|central nervous system childhood germ cell tumor|pediatric germ cell neoplasm of the CNS|childhood central nervous system germ cell tumor|pediatric central nervous system germ cell tumor|pediatric germ cell tumor of CNS|childhood germ cell neoplasm of central nervous system|childhood germ cell neoplasm of CNS|pediatric central nervous system germ cell neoplasm|pediatric germ cell neoplasm of the central nervous system|childhood central nervous system germ cell neoplasm|pediatric germ cell tumor of the CNS|childhood germ cell neoplasm of the central nervous system|central nervous system pediatric germ cell cancer|childhood CNS germ cell tumor|pediatric germ cell neoplasm of central nervous system|pediatric CNS germ cell tumor											UMLS:C0278754|NCIT:C6205|DOID:6052																		owl:Class
MONDO:0017178	biolink:NamedThing	osteochondritis dissecans	Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.	mondoexuq1wtf	SSOAOD|OCD|OD|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|osteochondritis dissecans and short stature|König disease|osteochondritis dissecans|Koenig disease|osteochondritis dissecans (disease)|familial osteochondritis dissecans|short stature and advanced bone AGE, with or without early-onset osteoarthritis and/OR osteochondritis DISSECANS|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|Konig disease		osteochondritis dissecans (disease)									HP:0010886|ICD10:M93.9|COHD:437359|ICD10:M93.2|DOID:84|MedDRA:10031231|Orphanet:251262|SCTID:82562007|GARD:0004133|MESH:D010008|Orphanet:2764|NCIT:C34878|OMIM:165800|ICD9:732.7|UMLS:C0029421																		owl:Class
MONDO:0018239	biolink:NamedThing	aggrecan-related bone disorder		mondoexuq1wtf												Orphanet:364817|UMLS:CN227289																		owl:Class
MONDO:0011106	biolink:NamedThing	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.	mondoexuq1wtf	facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|FDLAB|FDLAB syndrome|Traboulsi syndrome											MESH:C563293|UMLS:C1832167|ICD10:Q87.0|Orphanet:412022|OMIM:601552																		owl:Class
MONDO:0016176	biolink:NamedThing	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy		mondoexuq1wtf												ICD10:G61.8|Orphanet:209004																		owl:Class
MONDO:0018748	biolink:NamedThing	linear IgA Dermatosis	Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).	mondoexuq1wtf												Orphanet:46488|MESH:D062027|ICD10:L10.8|GARD:0010960|MedDRA:10024515|SCTID:95330001|UMLS:C0406650																		owl:Class
MONDO:0001418	biolink:NamedThing	trachea sarcoma	A rare malignant soft tissue neoplasm that arises from the trachea.	mondoexuq1wtf	trachea sarcoma|sarcoma of trachea|sarcoma of the trachea|tracheal sarcoma											NCIT:C6050|DOID:12002|UMLS:C1336774																		owl:Class
MONDO:0001407	biolink:NamedThing	tracheal cancer	A malignant neoplasm involving the trachea	mondoexuq1wtf	malignant tracheal neoplasm|tracheal neoplasm|malignant tumor of trachea|cancer of trachea|malignant trachea tumor|malignant trachea neoplasm|malignant neoplasm of the trachea|Ca trachea|malignant tracheal tumor|malignant neoplasm of trachea|trachea cancer|malignant tumor of the trachea											ICD10:C33|DOID:11920|UMLS:C0153489|SCTID:363432004|NCIT:C9346|ICD9:162.0|COHD:4177112																		owl:Class
MONDO:0054845	biolink:NamedThing	developmental and epileptic encephalopathy, 66		mondoexuq1wtf	EIEE66|DEE66|epileptic encephalopathy, early infantile, 66											UMLS:CN252658|DOID:0080446|OMIM:618067																		owl:Class
MONDO:0006879	biolink:NamedThing	optic papillitis	Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)	mondoexuq1wtf	papillitis, optic nerve|papillitis, optic|optic disk edema|edema, optic disk|decreased intraocular pressure-associated papilledema|edema, optic papilla|papillitis|papilledema associated with increased intracranial pressure|optic discitis|optic papilla edema|increased intracranial pressure-associated papilledema|Edemas, retinal|increased intracranial pressure associated papilledema|retinal Edemas|optic papillitis|optic nerve papillitis|disks, Choked|Choked disks|edema of the optic disc|Choked disk|decreased intraocular pressure associated papilledema|papilledema associated with decreased intraocular pressure|edema, retinal|disk, Choked|Edemas, optic disk|optic disc inflammation|inflammation of optic disc|retinal edema											ICD10:H47.10|ICD9:362.83|ICD9:377.0|ICD10:H47.1|MedDRA:10030948|ICD10:H35.81|ICD9:377.01|ICD10:H47.11|ICD10:H46.0|EFO:1001074|MESH:D010211|SCTID:73221001|COHD:435269|ICD9:377.31|DOID:10175|ICD9:377.00																		owl:Class
MONDO:0001602	biolink:NamedThing	labia minora carcinoma	A carcinoma that arises from the labia minora.	mondoexuq1wtf	labium minora carcinoma|carcinoma of the labia minora|carcinoma of labium minora|labia minora cancer|carcinoma of labia minora|labia minora carcinoma											NCIT:C9364|DOID:1293|UMLS:C1334357																		owl:Class
MONDO:0001526	biolink:NamedThing	labia minora cancer	A malignant neoplasm that affects the labia minora.	mondoexuq1wtf	malignant neoplasm of labia minora|malignant labia minora tumor|cancer of labium minora|malignant neoplasm of labium minora|malignant neoplasm of labium minus|malignant labium minora neoplasm|malignant tumor of the labia minora|malignant neoplasm of the labia minora|malignant tumor of labia minora|malignant labia minora neoplasm|labium minora cancer											DOID:1243|ICD9:184.2|NCIT:C7637|UMLS:C0496815|ICD10:C51.1|SCTID:363447008																		owl:Class
MONDO:0060783	biolink:NamedThing	classic congenital adrenal hyperplasia	A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.	mondoexuq1wtf	classic CAH|classic congenital adrenal hyperplasia											NCIT:C131423|UMLS:C4329672																		owl:Class
MONDO:0018479	biolink:NamedThing	congenital adrenal hyperplasia	Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.	mondoexuq1wtf	adrenal hyperplasia, congenital|congenital adrenal gland hyperplasia|adrenal hyperplasia|lipoid CAH|adrenogenital disorder|adrenogenital syndrome|CAH|congenital lipoid adrenal hyperplasia											ICD10:E25.0|SCTID:237751000|ICD10:E25.9|NCIT:C34360|UMLS:C0001627|ICD9:255.2|Orphanet:418|MESH:D000312|DOID:0050811|UMLS:C0701163|MedDRA:10010323|ICD10:E25|GARD:0001467																		owl:Class
MONDO:0016085	biolink:NamedThing	Cole-Carpenter syndrome	Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	mondoexuq1wtf	Cole Carpenter syndrome|bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome											GARD:0001425|ICD10:Q78.0|NCIT:C130985|OMIMPS:112240|DOID:0060438|MESH:C535963|UMLS:C1862178|Orphanet:2050																		owl:Class
MONDO:0007384	biolink:NamedThing	congenital trigeminal anesthesia	Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).	mondoexuq1wtf	familial trigeminal anesthesia|corneal hypesthesia, familial|trigeminal anesthesia, familial											UMLS:C1852541|SCTID:763218005|ICD10:G50.8|MESH:C536440|Orphanet:231013|OMIM:122450|GARD:0010034																		owl:Class
MONDO:0018425	biolink:NamedThing	Huntington disease-like syndrome due to C9ORF72 expansions		mondoexuq1wtf	C9ORF72-related Huntington disease phenocopy|C9ORF72-related Huntington disease-like syndrome|Huntington disease phenocopy due to C9ORF72 expansions											ICD10:G10|Orphanet:401901|UMLS:CN226138																		owl:Class
MONDO:0017646	biolink:NamedThing	neurodegenerative disease with chorea		mondoexuq1wtf												Orphanet:306719|UMLS:CN203538																		owl:Class
MONDO:0021470	biolink:NamedThing	benign neoplasm of pancreas	A benign neoplasm that involves the pancreas.	mondoexuq1wtf	benign pancreas tumor|benign neoplasm of the pancreas|pancreas tumor, benign|benign pancreas neoplasm|pancreas benign neoplasm|benign tumor of pancreas|benign pancreatic tumor|benign pancreatic neoplasm|benign tumor of the pancreas|pancreatic neoplasm, benign|pancreatic tumor, benign|pancreas neoplasm, benign											SCTID:92264007|ICD10:D13.6|UMLS:C0347284|NCIT:C4612																		owl:Class
MONDO:0007416	biolink:NamedThing	Balkan nephropathy	A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.	mondoexuq1wtf	BEN|AAN|Chinese herb endemic nephropathy|Danubian endemic familial nephropathy|nephropathia epidemica|aristolochic acid nephropathy|DEFN|Balkan endemic nephropathy|endemic nephropathy											GARD:0008576|OMIM:124100|ICD10:N15.0|SCTID:26121002|UMLS:C0004698|MESH:D001449|DOID:3052|NCIT:C123025|UMLS:C4049993|ICD9:583.89|EFO:0007164																		owl:Class
MONDO:0008782	biolink:NamedThing	amyotrophic lateral sclerosis with polyglucosan bodies		mondoexuq1wtf	amyotrophic lateral sclerosis with polyglucosan bodies					Not in the OMIM series.						MESH:C565955|OMIM:205250|UMLS:C1859805																		owl:Class
MONDO:0012694	biolink:NamedThing	Joubert syndrome 7	Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	mondoexuq1wtf	Joubert syndrome 7|JBTS7|RPGRIP1L Joubert syndrome|Joubert syndrome caused by mutation in RPGRIP1L|Joubert syndrome type 7											UMLS:C1969053|DOID:0111002|MESH:C566916|OMIM:611560																		owl:Class
MONDO:0010631	biolink:NamedThing	incontinentia pigmenti	Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).	mondoexuq1wtf	IP2 (formerly)|incontinentia pigmenti|Incontinentia pigmenti, familial Male-lethal type|IP|Incontinentia pigmenti, type II, formerly|Incontinentia pigmenti, type II|Incontinentia pigmenti type 2 (formerly)|Bloch-Sulzberger syndrome|Bloch-Siemens syndrome|Incontinentia pigmenti syndrome											NCIT:C84787|Orphanet:464|EFO:1000672|UMLS:C0021171|OMIM:308300|GARD:0006778|SCTID:367520004|ICD10:Q82.3|DOID:12305|Wikipedia:Incongenita_pigmenti|MESH:D007184																		owl:Class
MONDO:0015651	biolink:NamedThing	neurocutaneous syndrome with epilepsy		mondoexuq1wtf												Orphanet:166466|UMLS:CN200062																		owl:Class
MONDO:0004705	biolink:NamedThing	liver solitary fibrous tumor	A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.	mondoexuq1wtf	liver solitary fibrous tumor|fibroma of the liver|liver localized fibrous tumor|hepatic fibroma|liver localized fibrous mesothelioma|fibroma of liver|liver fibroma											NCIT:C5752|DOID:907|UMLS:C1333965																		owl:Class
MONDO:0016238	biolink:NamedThing	solitary fibrous tumor	Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).	mondoexuq1wtf	hemangiopericytoma|localized fibrous mesothelioma|SFT|solitary fibrous tumor/hemangiopericytoma|solitary fibrous tumor|submesothelial fibroma|localized fibrous tumor											MESH:D054364|ICD10:D21.9|ICDO:9051/0|UMLS:C1266119|Orphanet:2126|MedDRA:10018825|ICDO:8815/1|ICD9:238.1|ICDO:8815/0|NCIT:C7634|ONCOTREE:SFT																		owl:Class
MONDO:0044643	biolink:NamedThing	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome		mondoexuq1wtf	congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome											Orphanet:495875																		owl:Class
MONDO:0018682	biolink:NamedThing	congenital insensitivity to pain with severe intellectual disability		mondoexuq1wtf	congenital insensitivity to pain with preserved temperature sensation|congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay|congenital analgesia with severe intellectual disability											Orphanet:453510																		owl:Class
MONDO:0006940	biolink:NamedThing	radial nerve lesion	A peripheral nerve lesion that involves the radial nerve.	mondoexuq1wtf	lesion of radial nerve|radial nerve peripheral nerve lesion|radial nerve lesions|peripheral nerve lesion of radial nerve											UMLS:C0154744|ICD9:354.3|COHD:141004|SCTID:193137006|DOID:12170|EFO:1001143|MedDRA:10061477|ICD10:G56.30|ICD10:G56.3																		owl:Class
MONDO:0024334	biolink:NamedThing	peripheral nerve lesion		mondoexuq1wtf																														owl:Class
MONDO:0011565	biolink:NamedThing	metabolic syndrome X		mondoexuq1wtf	metabolic syndrome, protection against|dysmetabolic syndrome X|abdominal obesity metabolic syndrome|AOMS1|metabolic syndrome type X|abdominal obesity-metabolic syndrome 1|abdominal obesity-metabolic syndrome quantitative trait locus 1|metabolic syndrome 10											GARD:0009226|MESH:D024821|SCTID:237602007|UMLS:C0524620|DOID:14221|ICD9:277.7|ICD10:E88.81|OMIM:605552|COHD:436940																		owl:Class
MONDO:0000816	biolink:NamedThing	abdominal obesity-metabolic syndrome		mondoexuq1wtf												OMIMPS:605552|DOID:0060611|UMLS:C2930930|MESH:C535554																		owl:Class
MONDO:0700004	biolink:NamedThing	idiopathic vs non-idiopathic	A disease characteristic in which the cause of the disease is known or unknown.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0021125	biolink:NamedThing	disease characteristic	An attribute of a disease.	mondoexuq1wtf	qualifier|disease qualifier|modifier											NCIT:C41009																		owl:Class
MONDO:0011640	biolink:NamedThing	genitopatellar syndrome	Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.	mondoexuq1wtf	absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|genitopatellar syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|GENITOPATELLAR syndrome|GTPTS											GARD:0010994|UMLS:C1853566|Orphanet:85201|SCTID:702367005|ICD10:Q87.8|ICD9:759.89|MESH:C565255|OMIM:606170														https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome				owl:Class
MONDO:0018681	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome		mondoexuq1wtf												Orphanet:453499|UMLS:CN237747																		owl:Class
MONDO:0006748	biolink:NamedThing	epilepsia partialis continua	A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)	mondoexuq1wtf												ICD9:345.7|EFO:1000924|MedDRA:10015034|COHD:374023|MESH:D017036|SCTID:241006|ICD9:345.70																		owl:Class
MONDO:0019375	biolink:NamedThing	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.	mondoexuq1wtf	MPPH syndrome|megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus											SCTID:722036008|ICD10:Q04.8|GARD:0010341|DC:0000669|Orphanet:83473|OMIMPS:603387																		owl:Class
MONDO:0015219	biolink:NamedThing	non-syndromic central nervous system malformation	A central nervous system malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated central nervous system malformation|nonsyndromic central nervous system malformation					Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58						Orphanet:108989																		owl:Class
MONDO:0021651	biolink:NamedThing	synpolydactyly	A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).	mondoexuq1wtf	synpolydactyly											MESH:C538153|NCIT:C75003																		owl:Class
MONDO:0009025	biolink:NamedThing	apparent mineralocorticoid excess	Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	mondoexuq1wtf	AME 1|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|cortisol 11-beta-ketoreductase deficiency|Ulick syndrome|cortisol 11-Beta-ketoreductase deficiency|Ame1|apparent mineralocorticoid excess|ape|apparent mineralocorticoid EXCESS|11-beta-hydroxysteroid dehydrogenase deficiency type 2|AME											Orphanet:320|UMLS:C2936861|OMIM:218030|GARD:0000433|DOID:0090121|NCIT:C131083|SCTID:703256004|UMLS:CN203981|ICD10:E26.1|UMLS:C3887949|MESH:C537422														https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess				owl:Class
MONDO:0003327	biolink:NamedThing	peripheral ganglioneuroblastoma	A ganglioneuroblastoma arising from the peripheral nervous system.	mondoexuq1wtf	ganglioneuroblastoma (disease) of peripheral nervous system|peripheral nervous system ganglioneuroblastoma|PNS ganglioneuroblastoma|peripheral ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)					Editor note: logical definition removed as it leads to equivalency with parent						NCIT:C6594|DOID:5195|UMLS:C1335387																		owl:Class
MONDO:0005035	biolink:NamedThing	ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.	mondoexuq1wtf	ganglioneuroblastoma|ganglioneuroblastoma (disease)|ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma, malignant		ganglioneuroblastoma (disease)									EFO:0000502|MedDRA:10017708|HP:0006747|DOID:4163|SCTID:116381000119105|ICD9:171.9|NIFSTD:birnlex_12633|ICDO:9490/3|NCIT:C3790|Orphanet:251877|ONCOTREE:GNBL|UMLS:C0206718																		owl:Class
MONDO:0021654	biolink:NamedThing	diffuse cutaneous mucinosis		mondoexuq1wtf												UMLS:C0406655|SCTID:238945000|ICD9:701.8																		owl:Class
MONDO:0002523	biolink:NamedThing	cutaneous mucinosis	The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).	mondoexuq1wtf	mucinosis|mucinosis affecting the skin|mucinoses					Editor note: consider splitting by location						DOID:3141|ICD9:701.8|MESH:D017520|UMLS:C0162855|SCTID:402721001																		owl:Class
MONDO:0000572	biolink:NamedThing	recombinase activating gene 1 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	mondoexuq1wtf												DOID:0060011																		owl:Class
MONDO:0017791	biolink:NamedThing	high bone mass osteogenesis imperfecta		mondoexuq1wtf	high bone mass OI											UMLS:CN203741|Orphanet:314029|ICD10:Q78.0																		owl:Class
MONDO:0032603	biolink:NamedThing	polydactyly, postaxial, type A9		mondoexuq1wtf	POLYDACTYLY, POSTAXIAL, TYPE A9|PAPA9											OMIM:618219																		owl:Class
MONDO:0020927	biolink:NamedThing	postaxial polydactyly		mondoexuq1wtf						Editor note: consider merge with MONDO:0017426 see https://github.com/monarch-initiative/mondo/issues/1346						OMIMPS:174200																		owl:Class
MONDO:0015749	biolink:NamedThing	6q16 deletion syndrome	Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.	mondoexuq1wtf	Del(6)(q16)|monosomy 6q16|Prader-Willi-like syndrome due to deletion 6q16											ICD10:Q93.5|Orphanet:171829|UMLS:CN200301																		owl:Class
MONDO:0018354	biolink:NamedThing	Prader-Willi-like syndrome	Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.	mondoexuq1wtf	PWS-like											Orphanet:398073|ICD10:Q87.1|UMLS:CN226094																		owl:Class
MONDO:0016382	biolink:NamedThing	hereditary poikiloderma		mondoexuq1wtf												Orphanet:222628																		owl:Class
MONDO:0001176	biolink:NamedThing	lens disease	A disease involving the lens of camera-type eye.	mondoexuq1wtf	lens disorder|lens of camera-type eye disease or disorder|disease of lens of camera-type eye|lens of camera-type eye disease|disorder of lens of camera-type eye|disease or disorder of lens of camera-type eye					Includes cataracts, lens subluxation and aphakia						UMLS:C0023308|ICD9:379.39|DOID:110|ICD10:H27.9|NCIT:C26812|ICD10:H25-H28|SCTID:10810001|MESH:D007905																		owl:Class
MONDO:0032643	biolink:NamedThing	pontocerebellar hypoplasia, type 12		mondoexuq1wtf	PCH12|PONTOCEREBELLAR HYPOPLASIA, TYPE 12											OMIM:618266																		owl:Class
MONDO:0030061	biolink:NamedThing	periventricular nodular heterotopia 9		mondoexuq1wtf	periventricular nodular heterotopia 9|PERIVENTRICULAR NODULAR HETEROTOPIA 9|PVNH9											OMIM:618918																		owl:Class
MONDO:0020341	biolink:NamedThing	periventricular nodular heterotopia	Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	mondoexuq1wtf	periventricular heterotopia											MESH:D054091|UMLS:C1868720|GARD:0012724|Orphanet:98892|MedDRA:10066854|DOID:0050454|ICD10:Q04.8|OMIMPS:300049																		owl:Class
MONDO:0011017	biolink:NamedThing	Naxos disease	Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	mondoexuq1wtf	woolly hair palmoplantar keratoderma cardiac abnormalities|keratosis palmoplantaris with arrythmogenic cardiomyopathy|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|KWWH type I|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|keratoderma with woolly hair type I|palmoplantar keratoderma with arrythmogenic cardiomyopathy|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|NAXOS disease|NXD|Mal De Naxos|keratosis palmoplantaris with arrhythmogenic cardiomyopathy|Naxos disease											ICD10:Q87.8|OMIM:601214|UMLS:C1832600|DOID:0080551|SCTID:715535009|Orphanet:34217|GARD:0009795|MESH:C538346														https://rarediseases.info.nih.gov/diseases/9795/naxos-disease				owl:Class
MONDO:0018558	biolink:NamedThing	syndrome with woolly hair		mondoexuq1wtf												Orphanet:434809																		owl:Class
MONDO:0003826	biolink:NamedThing	mediastinum seminoma	An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.	mondoexuq1wtf	seminoma of mediastinum|seminoma of the mediastinum|mediastinal seminoma|mediastinum seminoma											DOID:6249|NCIT:C6812|UMLS:C1334680																		owl:Class
MONDO:0006298	biolink:NamedThing	mediastinal malignant germ cell tumor	An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.	mondoexuq1wtf	malignant germ cell tumor of mediastinum|malignant mediastinal germ cell neoplasm|malignant germ cell tumor of the mediastinum|malignant germ cell neoplasm of the mediastinum|malignant germ cell neoplasm of mediastinum|thymic malignant germ cell tumor|mediastinal germ cell tumor, malignant|mediastinal malignant germ cell tumor|malignant mediastinal germ cell tumor											EFO:1000366|NCIT:C6446|SCTID:713293002|UMLS:C1334597																		owl:Class
MONDO:0005659	biolink:NamedThing	atrophic rhinitis	A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).	mondoexuq1wtf	rhinitis, atrophic|dry rhinitis|ozena|Ozaena|rhinitis sicca											MESH:D012222|UMLS:C0035459|EFO:0007159|SCTID:69646003|DOID:4731|UMLS:C0030105																		owl:Class
MONDO:0003014	biolink:NamedThing	rhinitis	An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.	mondoexuq1wtf	nasal cavity mucosa inflammation|runny nose|inflammation of nasal cavity mucosa											SCTID:70076002|ICD10:J30|UMLS:C0035455|MESH:D012220|EFO:0008521|DOID:4483|NCIT:C34986																		owl:Class
MONDO:0010320	biolink:NamedThing	retinitis pigmentosa 23	Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.	mondoexuq1wtf	retinitis pigmentosa type 23|RP23|OFD1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in OFD1|retinitis pigmentosa 23|RP 23											DOID:0110412|UMLS:C1419610|GARD:0010391|ICD10:H35.5|OMIM:300424														https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23				owl:Class
MONDO:0013464	biolink:NamedThing	episodic ataxia type 5	Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.	mondoexuq1wtf	EA5|episodic ataxia, type 5|CACNB4 hereditary episodic ataxia|hereditary episodic ataxia caused by mutation in CACNB4											MESH:C566601|UMLS:C1866039|SCTID:718756005|OMIM:613855|ICD10:G11.8|Orphanet:211067|DOID:0050993																		owl:Class
MONDO:0025129	biolink:NamedThing	swine erysipelas	An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.	mondoexuq1wtf	erysipelas, swine											MESH:D013554|UMLS:C0039007																		owl:Class
MONDO:0006751	biolink:NamedThing	Erysipelothrix infectious disease	Infections with bacteria of the genus erysipelothrix.	mondoexuq1wtf	infection, Erysipelothrix|Erysipelothrix caused disease or disorder|Erysipelothrix infection|Erysipelothrix disease or disorder|infections, Erysipelothrix											UMLS:C0014736|SCTID:367434002|MESH:D004889|EFO:1000927																		owl:Class
MONDO:0008216	biolink:NamedThing	pelvic lipomatosis with crossed renal ectopia		mondoexuq1wtf	pelvic lipomatosis with crossed renal ectopia											UMLS:C1868511|OMIM:169545|MESH:C566812																		owl:Class
MONDO:0019882	biolink:NamedThing	distal trisomy 8q	Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).	mondoexuq1wtf	distal trisomy type 8q|trisomy 8qter|telomeric duplication 8q|distal duplication 8q											SCTID:763277009|ICD10:Q92.3|Orphanet:96100																		owl:Class
MONDO:0016959	biolink:NamedThing	partial duplication of the long arm of chromosome 8		mondoexuq1wtf	partial duplication of the long arm of chromosome type 8|partial trisomy of chromosome 8q|partial trisomy of the long arm of chromosome 8|partial duplication of chromosome 8q											Orphanet:262896																		owl:Class
MONDO:0000193	biolink:NamedThing	cortisone reductase deficiency	A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.	mondoexuq1wtf	CORTRD|HSD 11B1 deficiency|hyperandrogenism due to cortisone reductase deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1|deficiency of (R)-20-hydroxysteroid dehydrogenase|deficiency of cortisone reductase|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of											ICD10:E25.8|UMLS:CN200166|DC:0000697|ICD9:277.6|OMIMPS:604931|MESH:C536447|SCTID:124138004|DOID:0090139|Orphanet:168588|GARD:0009882														https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency				owl:Class
MONDO:0003811	biolink:NamedThing	ovarian seromucinous tumor	A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.	mondoexuq1wtf	mixed epithelial neoplasm of the ovary|ovarian mixed epithelial tumor|mixed epithelial tumor of the ovary|mixed epithelial tumor of ovary|ovarian Seromucinous tumor|mixed epithelial neoplasm of ovary|ovarian mixed epithelial neoplasm											DOID:6211|EFO:1000425|SCTID:254855000|UMLS:C0346166|NCIT:C4508																		owl:Class
MONDO:0011292	biolink:NamedThing	dermatitis, atopic		mondoexuq1wtf	dermatitis, Atopic, 1|eczema, Atopic|dermatitis, atopic|Atod											OMIM:603165|COHD:133834																		owl:Class
MONDO:0001329	biolink:NamedThing	accommodative spasm		mondoexuq1wtf	spasm of accommodation											ICD9:367.53|SCTID:30069002|ICD10:H52.53|UMLS:C0152196|DOID:11637																		owl:Class
MONDO:0000926	biolink:NamedThing	eye accommodation disease	Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.	mondoexuq1wtf	disorder of accommodation											SCTID:54552008|ICD9:367.5|UMLS:C0152198|ICD10:H52.5|DOID:10034																		owl:Class
MONDO:0000110	biolink:NamedThing	bifid nose	Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	mondoexuq1wtf												ICD10:Q30.2|UMLS:CN227089|MESH:C535441|DC:0000479|GARD:0000884|Orphanet:2695																		owl:Class
MONDO:0023538	biolink:NamedThing	Kaplowitz-Bodurtha syndrome		mondoexuq1wtf	congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia											UMLS:C2931361|MESH:C536893																		owl:Class
MONDO:0013820	biolink:NamedThing	intellectual disability, autosomal dominant 15	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.	mondoexuq1wtf	MRD15|intellectual disability, autosomal dominant 15|autosomal dominant intellectual disability 15|COFFIN-SIRIS syndrome 3|CSS3|Coffin-Siris syndrome caused by mutation in SMARCB1|mental retardation, autosomal dominant type 15|mental retardation, autosomal dominant 15|intellectual disability, autosomal dominant type 15|SMARCB1 Coffin-Siris syndrome|autosomal dominant mental retardation 15											UMLS:C3553248|DOID:0070045|OMIM:614608																		owl:Class
MONDO:0015326	biolink:NamedThing	night blindness-skeletal anomalies-dysmorphism syndrome	This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).	mondoexuq1wtf	Hunter Thompson Reed syndrome|Hunter-Thompson-Reed syndrome											ICD10:Q87.8|Orphanet:1390|GARD:0003994|UMLS:CN199356														https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome				owl:Class
MONDO:0033853	biolink:NamedThing	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome		mondoexuq1wtf												Orphanet:521432																		owl:Class
MONDO:0018882	biolink:NamedThing	vasculitis	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease.	mondoexuq1wtf	angiitis|systemic vasculitis											MedDRA:10036023|Wikipedia:Vasculitis|SCTID:31996006|GARD:0009565|EFO:0006803|DOID:865|UMLS:C0042384|Orphanet:52759|NCIT:C26912|MedDRA:10047115|MESH:D014657																		owl:Class
MONDO:0012907	biolink:NamedThing	blindness - scoliosis - arachnodactyly syndrome	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	mondoexuq1wtf	scoliosis, arachnodactyly, and blindness											UMLS:C2676234|MESH:C567309|OMIM:612445|Orphanet:171844|SCTID:717920004																		owl:Class
MONDO:0011821	biolink:NamedThing	Meckel syndrome, type 3	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	mondoexuq1wtf	Meckel syndrome, type 3|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67|Meckel-Gruber syndrome, type 3|MKS3|TMEM67 Meckel syndrome|Meckel syndrome 3											OMIM:607361|UMLS:C1846357|MESH:C536132|ICD10:Q61.9|DOID:0070117|GARD:0008744														https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3				owl:Class
MONDO:0013688	biolink:NamedThing	linear and whorled nevoid hypermelanosis	Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.	mondoexuq1wtf	linear papular ectodermal-mesodermal hamartoma|Becker Nevus|progressive cribriform and zosteriform hyperpigmentation|zebra-like hyperpigmentation|linear and whorled hypermelanosis|melanosis Neviformis|nevoid hypermelanosis, linear and whorled|hyperpigmentation, progressive cribriform and zosteriform|LWNH|Becker's Nevus|zosteriform lentiginous nevus|pigmented hairy Epidermal Nevus|zosteriform hyperpigmentation|reticulate hyperpigmentation of Iijima|pigmented hairy Nevus of Becker											UMLS:C0263579|Orphanet:79150|OMIM:614323|ICD10:L81.4|NCIT:C3924|GARD:0011004|UMLS:C1304501|SCTID:403803002														https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis				owl:Class
MONDO:0001191	biolink:NamedThing	hirudiniasis	An disease or disorder caused by infection with Hirudinea.	mondoexuq1wtf	leeches|Hirudinea caused disease or disorder|Hirudinea infectious disease|Hirudinea disease or disorder											UMLS:C0019575|ICD10:B88.3|ICD9:134.2|DOID:11079|SCTID:64351000																		owl:Class
MONDO:0021010	biolink:NamedThing	skin lymphangiosarcoma	A malignant vascular neoplasm of the skin arising from the lymphatic vessels.	mondoexuq1wtf	lymphangiosarcoma of Stewart and Treves|skin lymphangiosarcoma|lymphangiosarcoma of the skin|lymphangiosarcoma of skin											ICD9:171.2|SCTID:62497000|NCIT:C4490|UMLS:C0346082																		owl:Class
MONDO:0006414	biolink:NamedThing	skin sarcoma	A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.	mondoexuq1wtf	cutaneous sarcoma|sarcoma of zone of skin|sarcoma of the skin|skin sarcoma|sarcoma of skin|zone of skin sarcoma											NCIT:C5585|EFO:1000531|UMLS:C0856900|DOID:2687																		owl:Class
MONDO:0020683	biolink:NamedThing	acute disease	Disease having a short and relatively severe course.	mondoexuq1wtf	acute diseases|disease, acute|acute disease											ICD9:799.89|SCTID:2704003|MESH:D000208|UMLS:C0001314																		owl:Class
MONDO:0004952	biolink:NamedThing	Hodgkins lymphoma	Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.	mondoexuq1wtf	HL|stage I subdiaphragmatic Hodgkin lymphoma|Hodgkin lymphoma|lymphoma, Hodgkin's|Hodgkin's sarcoma|Hodgkin's disease|Hodgkins lymphoma|stage II subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|Hodgkin disease											Orphanet:98293|ICD9:201.9|MESH:D006689|DOID:8567|ICD9:201.0|ICD9:201|ONCOTREE:HL|NCIT:C9357|ICD9:201.1|ICD10:C81|ICD10:C81.9|GARD:0002714|ICD9:201.2|EFO:0000183|ICD9:201.90|ICDO:9650/3																		owl:Class
MONDO:0011418	biolink:NamedThing	dyslexia, susceptibility to, 3		mondoexuq1wtf	DYX3|dyslexia, susceptibility to, 3											OMIM:604254																		owl:Class
MONDO:0005680	biolink:NamedThing	Brill-Zinsser disease	A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.	mondoexuq1wtf	Brill disease|Brill Zinsser disease|recrudescent typhus|Brill's disease|sporadic typhus|latent typhus											ICD9:081.1|SCTID:47761007|DOID:11254|Orphanet:99990|ICD10:A75.1|EFO:0007182|UMLS:C0006181																		owl:Class
MONDO:0019362	biolink:NamedThing	epidemic louse-borne typhus	A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.	mondoexuq1wtf	epidemic typhus|epidemic typhus fever|epidemic louse-borne typhus|sylvatic typhus|typhus											ICD10:A75.0|DOID:0050480|MedDRA:10014979|NCIT:C84689|Orphanet:83314																		owl:Class
MONDO:0015064	biolink:NamedThing	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.	mondoexuq1wtf	jejunal neuroendocrine neoplasm|jejunal neuroendocrine tumor					Editor note: TODO apply G1/G2 pattern						UMLS:CN197357|NCIT:C135090|Orphanet:100077																		owl:Class
MONDO:0002995	biolink:NamedThing	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.	mondoexuq1wtf	small intestinal well differentiated endocrine tumor|small intestinal well differentiated endocrine tumor/carcinoma|small intestinal NET|carcinoid tumor of small intestine|small intestine neuroendocrine tumor|small intestinal neuroendocrine tumor											UMLS:C3272528|NCIT:C96061|EFO:1001928																		owl:Class
MONDO:0018106	biolink:NamedThing	hereditary xanthinuria	Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.	mondoexuq1wtf	hereditary xanthinuria|xanthine stone disease|xanthinuria|xanthic urolithiasis|classic xanthinuria|xanthine dehydrogenase deficiency											ICD9:277.2|SCTID:54627004|HP:0010934|Orphanet:3467|ICD10:E79.8|DOID:0060236|OMIMPS:278300																		owl:Class
MONDO:0043303	biolink:NamedThing	hyperacusis	A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.	mondoexuq1wtf	oversensitive hearing|phonophobia|recruitment, loudness|hyperacuses|disturbances, loudness perception|loudness recruitment|Phonophobias|hyperesthesias, auditory|disturbance, loudness perception|low tolerance to sound|loudness perception disturbances|hyperacusias|perception disturbance, loudness|hyperacusia|loudness Recruitments|auditory Hyperesthesias|perception disturbances, loudness|hyperesthesia, auditory|loudness perception disturbance|auditory hyperesthesia|sounds seem unnaturally loud|hyperacusis											SCTID:25289003|GARD:0009655|MESH:D012001|NCIT:C116366																		owl:Class
MONDO:0021205	biolink:NamedThing	disease of ear	A disease that involves the ear.	mondoexuq1wtf	ear disease or disorder|disorder of ear|Ear disease|disease of ear|disease or disorder of ear|ear disease|Ear disorder											ICD9:388.8|ICD9:388.9|NCIT:C26757|COHD:378161|UMLS:C0013447|SCTID:25906001																		owl:Class
MONDO:0005677	biolink:NamedThing	Rickettsia conorii infectious disease		mondoexuq1wtf																														owl:Class
MONDO:0019310	biolink:NamedThing	recessive dystrophic epidermolysis bullosa inversa	Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.	mondoexuq1wtf	dystrophic epidermolysis bullosa inversa|RDEB-I|inverse RDEB|inverse recessive dystrophic epidermolysis bullosa											UMLS:CN205951|Orphanet:79409|ICD10:Q81.2																		owl:Class
MONDO:0009179	biolink:NamedThing	recessive dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.	mondoexuq1wtf	severe generalized recessive dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|epidermolysis bullosa dystrophica inversa, autosomal recessive|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|RDEB, Hallopeau-Siemens type|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|dystrophic epidermolysis bullosa, autosomal recessive|RDEB generalisata gravis|severe generalized RDEB|RDEB-sev gen|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|RDEB|RDEB, severe generalized|recessive dystrophic epidermolysis bullosa, severe generalized											GARD:0006308|OMIM:226600|ICD10:Q81.2|SCTID:48528004|Orphanet:79408|ICD9:757.39|DOID:0060642																		owl:Class
MONDO:0008358	biolink:NamedThing	radial ray hypoplasia-choanal atresia syndrome	Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.	mondoexuq1wtf	Goldblatt-Viljoen syndrome|radial ray hypoplasia and choanal atresia|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia choanal atresia											OMIM:179270|SCTID:232373003|Orphanet:3026|GARD:0004627																		owl:Class
MONDO:0010749	biolink:NamedThing	trigonocephaly-short stature-developmental delay syndrome	Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.	mondoexuq1wtf	trigonocephaly, short stature, and retarded psychomotor development|Say Meyer syndrome|Say-Meyer syndrome|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature and developmental delay											Orphanet:3369|ICD10:Q87.0|OMIM:314320|SCTID:733066002|MESH:C536620|GARD:0000243																		owl:Class
MONDO:0014507	biolink:NamedThing	Catel-Manzke syndrome	Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.	mondoexuq1wtf	Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|index finger anomaly with Pierre Robin syndrome|Pierre Robin syndrome with hyperphalangy and clinodactyly|Palatodigital syndrome, Catel-Manzke type|Palatodigital syndrome Catel-Manzke type|hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|index finger anomaly-Pierre Robin syndrome|micrognathia digital syndrome|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|CATMANS|Catel-Manzke syndrome|Catel Manzke syndrome											ICD10:Q87.8|MESH:C535347|UMLS:C1844887|GARD:0000028|SCTID:722383001|OMIM:616145|Orphanet:1388														https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome				owl:Class
MONDO:0017238	biolink:NamedThing	hemoglobinopathy Toms River		mondoexuq1wtf	transient neonatal cyanosis and anemia due to Toms River Hemoglobin											ICD10:D58.2|Orphanet:280615																		owl:Class
MONDO:0019706	biolink:NamedThing	lysosomal storage disease with skeletal involvement		mondoexuq1wtf	dysostosis multiplex											UMLS:CN206618|Orphanet:93448|SCTID:254069004|ICD9:756.9																		owl:Class
MONDO:0014715	biolink:NamedThing	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.	mondoexuq1wtf	immunodeficiency 44|IMD44|primary immunodeficiency with post-MMR vaccine viral infection|immunodeficiency type 44											ICD10:D84.8|OMIM:616636|Orphanet:431166|UMLS:C4225260																		owl:Class
MONDO:0015135	biolink:NamedThing	primary immunodeficiency due to a genetic defect in innate immunity		mondoexuq1wtf	primary immunodeficiency due to a defect in innate immunity											Orphanet:101988																		owl:Class
MONDO:0018555	biolink:NamedThing	hypogonadotropic hypogonadism	Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.	mondoexuq1wtf	hypogonadism, hypogonadotropic|isolated congenital gonadotropin deficiency|normosmic congenital hypogonadotropic hypogonadism|nIHH|secondary hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|isolated hypogonadotropic hypogonadism|low gonadotropins (secondary hypogonadism)|central hypogonadism|hypogonadotropism|gonadotropic deficiency|hypogonadotropic hypogonadism with or without anosmia|hypogonadotropic hypogonadism|congenital idiopathic hypogonadotropic hypogonadism											Orphanet:432|ICD10:E23.0|SCTID:33927004|OMIMPS:147950|DOID:7455|ICD9:253.4|HP:0000044|DOID:0090070|UMLS:CN235466|NCIT:C113347																		owl:Class
MONDO:0002146	biolink:NamedThing	hypogonadism	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.	mondoexuq1wtf	gonadotropin deficiency|hypogonadotropism											SCTID:48130008|ICD9:253.4|UMLS:C0020619|NCIT:C9227|DOID:1924|MESH:D007006																		owl:Class
MONDO:0006799	biolink:NamedThing	hypothalamic neoplasm	A primary or metastatic neoplasm that affects the hypothalamus.	mondoexuq1wtf	hypothalamus neoplasm|hypothalamic tumor|hypothalamic neoplasms|tumor of the hypothalamus|neoplasm of hypothalamus|neoplasm of the hypothalamus|tumor of hypothalamus|hypothalamus tumor											SCTID:254968009|UMLS:C0020659|NCIT:C3129|MESH:D007029|EFO:1000979|DOID:3644																		owl:Class
MONDO:0009611	biolink:NamedThing	3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).	mondoexuq1wtf	MGA4|3-Methylglutaconic aciduria, type 4|Not otherwise specified 3-MGA-Uria type|3-METHYLGLUTACONIC aciduria, type IV|MGA type IV|MGCA4|3 alpha methylglutaconic aciduria type IV|3 methylglutaconic aciduria type IV|3-methylglutaconic aciduria type IV|Mga, type 4											SCTID:297233004|GARD:0010342|DOID:0110006|UMLS:C0574085|OMIM:250951|Orphanet:67048|UMLS:C1855126|MESH:C565393|ICD10:E71.1														https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type				owl:Class
MONDO:0000989	biolink:NamedThing	mumps infectious disease	A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.	mondoexuq1wtf	mumps virus infectious disease|Mumps virus caused disease or disorder|Mumps virus infectious disease|epidemic parotitis|Mumps virus disease or disorder|mumps										MONDO:0005863	SCTID:36989005|ICD10:B26|NCIT:C29888|GARD:0007116|MESH:D019351|ICD10:B26.9|DOID:10264|EFO:0007383|UMLS:C0026780|MESH:D009107|ICD9:072														https://rarediseases.info.nih.gov/diseases/7116/mumps				owl:Class
MONDO:0016183	biolink:NamedThing	qualitative or quantitative defects of protein glycosyltransferase-like		mondoexuq1wtf												Orphanet:209027																		owl:Class
MONDO:0016155	biolink:NamedThing	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		mondoexuq1wtf	secondary dystroglycanopathy|secondary alpha-dystroglycanopathy											Orphanet:207113																		owl:Class
MONDO:0011852	biolink:NamedThing	nonsyndromic congenital nail disorder 8	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.	mondoexuq1wtf	nail disorder, nonsyndromic congenital, type 8|nonsyndromic congenital nail disorder type 8|inherited isolated nail anomaly caused by mutation in COL7A1|COL7A1 inherited isolated nail anomaly|toenail dystrophy, isolated|nail disorder, nonsyndromic congenital, 8|NDNC8											DOID:0080086|MESH:C564384|OMIM:607523|UMLS:C1843761																		owl:Class
MONDO:0019284	biolink:NamedThing	inherited isolated nail anomaly	A nail anomaly that is not part of a larger syndrome.	mondoexuq1wtf	isolated nail anomaly|nonsyndromic nail anomaly|nail disorder, nonsyndromic congenital											DC:0000310|Orphanet:79369|OMIMPS:161050																		owl:Class
MONDO:0005890	biolink:NamedThing	osteitis fibrosa	A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.	mondoexuq1wtf	osteitis fibrosa cystica|Von Recklinghausen disease of Bone|osteitis fibrosa cystica generalisata|Von Recklinghausen's bone disease|hyperparathyroid bone disease|Von Recklinghausen's disease of Bone											UMLS:C0029405|EFO:0007413|SCTID:84727000|MESH:D010002|NCIT:C34875|DOID:3341																		owl:Class
MONDO:0000837	biolink:NamedThing	bone resorption disease	A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.	mondoexuq1wtf												MESH:D001862|DOID:0080011																		owl:Class
MONDO:0043116	biolink:NamedThing	iida kannari syndrome		mondoexuq1wtf	craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features											MESH:C536284|UMLS:C2931159|GARD:0003249																		owl:Class
MONDO:0001665	biolink:NamedThing	oculoglandular tularemia	A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.	mondoexuq1wtf												UMLS:C0152944|SCTID:73363000|ICD10:A21.1|DOID:13226|ICD9:021.3																		owl:Class
MONDO:0018077	biolink:NamedThing	tularemia	Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.	mondoexuq1wtf	Deerfly fever|Ohara disease|Francisella tularensis caused disease or disorder|Francisella tularensis infection|Francisella tularensis disease or disorder|Yatobyo (Japan)|rabbit fever|Francisella tularensis infectious disease|lemming fever|Pahvant Valley plague											ICD10:A21|MedDRA:10045146|ICD9:021.8|Orphanet:3392|ICD10:A21.3|GARD:0000396|EFO:1001444|SCTID:19265001|ICD10:A21.7|ICD10:A21.8|DOID:2123|ICD9:021.9|ICD10:A21.0|NCIT:C85208|ICD10:A21.1|MESH:D014406|ICD10:A21.9|ICD10:A21.2|UMLS:C0041351														https://rarediseases.info.nih.gov/diseases/396/tularemia				owl:Class
MONDO:0003790	biolink:NamedThing	prostatic urethra urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.	mondoexuq1wtf	prostatic urethra urothelial carcinoma											DOID:6166|UMLS:C1514522|NCIT:C39900																		owl:Class
MONDO:0002834	biolink:NamedThing	primary prostate urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.	mondoexuq1wtf	transitional cell carcinoma of the prostate|prostate urothelial carcinoma|prostate gland transitional cell carcinoma|prostate transitional cell carcinoma|primary prostate urothelial carcinoma|transitional cell carcinoma of prostate|primary prostate urothelial cancer											DOID:4011|NCIT:C39898|UMLS:C1514430																		owl:Class
MONDO:0009269	biolink:NamedThing	geleophysic dysplasia 1	Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.	mondoexuq1wtf	geleophysic dysplasia 1|ADAMTSL2 geleophysic dysplasia|geleophysic dysplasia caused by mutation in ADAMTSL2|GELEOPHYSIC dysplasia 1|GPHYSD1|Geleophysic dysplasia type 1											OMIM:231050|UMLS:C3278147|DOID:0111725																		owl:Class
MONDO:0000127	biolink:NamedThing	geleophysic dysplasia	Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').	mondoexuq1wtf	Geleophysic dwarfism|geleophysic dwarfism syndrome											OMIMPS:231050|DC:0000524|ICD10:Q87.1|ICD9:759.89|GARD:0002449|DOID:0111724|SCTID:28557005|Orphanet:2623|MedDRA:10063361																		owl:Class
MONDO:0015243	biolink:NamedThing	allergic bronchopulmonary aspergillosis	Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.	mondoexuq1wtf	allergic bronchopulmonary aspergillosis, familial|allergic aspergillosis|ABPA|allergic bronchopulmonary mycosis|pulmonary aspergillus disease|Hinson-Pepys disease|aspergillosis, allergic bronchopulmonary											EFO:0007140|UMLS:C0004031|ICD10:B44.1+|MedDRA:10006474|COHD:257583|MESH:D001229|ICD10:J99.8*|ICD9:518.6|OMIM:103920|SCTID:37981002|ICD10:B44.81|GARD:0000602|NCIT:C84547|Orphanet:1164|DOID:13166														https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis				owl:Class
MONDO:0000771	biolink:NamedThing	allergic respiratory disease	A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.	mondoexuq1wtf	airway allergy|respiratory allergy|allergic respiratory system disease|allergic form of respiratory system disease											DOID:0060496																		owl:Class
MONDO:0000407	biolink:NamedThing	malignant pleural solitary fibrous tumor	A malignant form of pleural solitary fibrous tumor.	mondoexuq1wtf	pleural solitary fibrous tumor, malignant											DOID:0050695																		owl:Class
MONDO:0016287	biolink:NamedThing	adenoid basal carcinoma of the cervix uteri	A skin adenoid basal cell carcinoma that involves the uterine cervix.	mondoexuq1wtf	uterine cervix skin adenoid basal cell carcinoma|skin adenoid basal cell carcinoma of uterine cervix|cervical adenoid basal carcinoma											ICD10:C53.0|ICD10:C53.1|UMLS:CN201077|Orphanet:213828|ICD10:C53.8																		owl:Class
MONDO:0017720	biolink:NamedThing	GM2 gangliosidosis	A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.	mondoexuq1wtf	GM>2< gangliosidosis|GM2-gangliosidosis, B, B1, AB variant|gangliosidosis GM2											GARD:0002522|SCTID:33316007|UMLS:C0268274|ICD10:E75.00|Orphanet:309152|MESH:D020143|DOID:3321|ICD10:E75.0																		owl:Class
MONDO:0015553	biolink:NamedThing	dystrophic epidermolysis bullosa, nails only	Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.	mondoexuq1wtf	DEB-na|nails-only DEB|dominant dystrophic epidermolysis bullosa, nails only|nails-only DDEB											ICD10:Q81.2|Orphanet:158676|SCTID:722436002|UMLS:CN199732																		owl:Class
MONDO:0004142	biolink:NamedThing	lung combined large cell neuroendocrine carcinoma	A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.	mondoexuq1wtf	combined large cell lung neuroendocrine carcinoma|pulmonary combined large cell neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung|combined large cell neuroendocrine carcinoma of the lung											UMLS:C1333122|DOID:7207|NCIT:C7267																		owl:Class
MONDO:0006167	biolink:NamedThing	combined lung carcinoma	A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.	mondoexuq1wtf	combined carcinoma of the lung|combined carcinoma of lung|combined lung cancer|combined lung carcinoma											UMLS:C1333123|EFO:1000200|NCIT:C7591																		owl:Class
MONDO:0002582	biolink:NamedThing	subacute leukemia	A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.	mondoexuq1wtf												ICD9:208.20|DOID:3264|UMLS:C0153924|ICD9:208.2|SCTID:302855005																		owl:Class
MONDO:0001481	biolink:NamedThing	femoral vein thrombophlebitis	A thrombophlebitis that involves the femoral vein.	mondoexuq1wtf	thrombophlebitis of the femoral vein|thrombophlebitis of deep femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial)|thrombophlebitis of femoral vein|femoral vein thrombophlebitis|phlebitis and thrombophlebitis of femoral vein											UMLS:C0265066|SCTID:1748006|ICD10:I80.1|COHD:439314|DOID:12282|ICD9:451.11																		owl:Class
MONDO:0010801	biolink:NamedThing	spondylocamptodactyly syndrome	Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.	mondoexuq1wtf	camptodactyly with cervical platyspondyly|spondylocamptodactyly|spondylo camptodactyly syndrome											MESH:C535779|UMLS:C4274762|GARD:0004972|UMLS:C1838781|ICD10:Q77.8|Orphanet:3180|SCTID:716231009|OMIM:600000																		owl:Class
MONDO:0005589	biolink:NamedThing	thiopurine immunosuppressant-induced pancreatitis	Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.	mondoexuq1wtf												EFO:0006315																		owl:Class
MONDO:0004982	biolink:NamedThing	pancreatitis	Inflammation of the pancreas.	mondoexuq1wtf	inflammation of pancreas|pancreas inflammation											SCTID:75694006|NCIT:C3306|MESH:D010195|UMLS:C0030305|EFO:0000278|DOID:4989|ICD10:K85.9																		owl:Class
MONDO:0011871	biolink:NamedThing	Niemann-Pick disease type B	Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea	mondoexuq1wtf	type B Niemann-Pick disease|Niemann-Pick disease, type F|Niemann-Pick disease, type E|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression|Niemann-PICK disease, type B|Niemann Pick disease type B											OMIM:607616|ICD10:E75.2|ICD10:E75.241|MESH:D052537|NCIT:C126866|Orphanet:77293|SCTID:39390005|DOID:0070112|UMLS:C0268243|GARD:0010729														https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b				owl:Class
MONDO:0015344	biolink:NamedThing	idiopathic acute transverse myelitis	Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.	mondoexuq1wtf	ATM/TM											Orphanet:139423|ICD10:G37.3																		owl:Class
MONDO:0015342	biolink:NamedThing	acute transverse myelitis	Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).	mondoexuq1wtf												NCIT:C128378|UMLS:C0270627|MESH:D009188|ICD9:323.9|ICD10:G37.3|SCTID:47000000|ICD9:341.20|Orphanet:139417|COHD:139803																		owl:Class
MONDO:0030876	biolink:NamedThing	cardioacrofacial dysplasia 1		mondoexuq1wtf	CAFD1|cardioacrofacial dysplasia 1											OMIM:619142																		owl:Class
MONDO:0031386	biolink:NamedThing	cardioacrofacial dysplasia		mondoexuq1wtf												OMIMPS:619142																		owl:Class
MONDO:0020431	biolink:NamedThing	juxtaposition of the atrial appendages	Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.	mondoexuq1wtf	juxtaposition of the atrial auricles											ICD10:Q20.8|Orphanet:99100																		owl:Class
MONDO:0019837	biolink:NamedThing	atrial appendage anomaly		mondoexuq1wtf	atrial auricle anomaly											Orphanet:95510|ICD10:Q20.8																		owl:Class
MONDO:0005284	biolink:NamedThing	chronic progressive multiple sclerosis	A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)	mondoexuq1wtf												UMLS:C0393665|MESH:D020528|SCTID:230373008|EFO:0003840																		owl:Class
MONDO:0008822	biolink:NamedThing	arthrogryposis, renal dysfunction, and cholestasis 1	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.	mondoexuq1wtf	Arc syndrome|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|arthrogryposis, renal dysfunction, and cholestasis 1|arthrogryposis, renal dysfunction, and cholestasis type 1|ARCS1|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome											DOID:0111353|OMIM:208085																		owl:Class
MONDO:0017123	biolink:NamedThing	arthrogryposis-renal dysfunction-cholestasis syndrome	Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.	mondoexuq1wtf	arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis, renal dysfunction, and cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis - renal dysfunction - cholestasis|ARC syndrome|arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome											SCTID:720513002|ICD10:Q89.7|DOID:0050763|OMIMPS:208085|GARD:0000794|Orphanet:2697|MESH:C535382																		owl:Class
MONDO:0042488	biolink:NamedThing	Cestode infectious disease	Infections with true tapeworms of the helminth subclass Cestoda.	mondoexuq1wtf	infections, cestode|Dipylidiases|Bertielliasis|Cestoda caused disease or disorder|Cestodiasis|Coenuriasis|infections, tapeworm|Raillietiniasis|Cenuriases|tapeworm infections|cestode infestation|tapeworm infection|Cenuriasis|Dipylidiasis|Bertielliases|Coenuriases|Cestodosis|Cestoda disease or disorder|disease due to Cestoda|Raillietiniases|Cestoda infectious disease|infection, tapeworm|infection, cestode|cestode infection											ICD9:123.8|MESH:D002590|EFO:1001287|ICD9:123.9|SCTID:86133004																		owl:Class
MONDO:0016185	biolink:NamedThing	qualitative or quantitative defects of protein O-mannosyltransferase 2		mondoexuq1wtf	qualitative or quantitative defects of protein O-mannosyltransferase type 2											Orphanet:209033																		owl:Class
MONDO:0022013	biolink:NamedThing	Boerhaave syndrome	A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.	mondoexuq1wtf	Boerhaave's syndrome|Boerhaave syndrome|Boerhave syndrome|spontaneous perforation of the esophagus|spontaneous rupture of esophagus|spontaneous esophageal perforation|spontaneous rupture of the esophagus|boerhaave's syndrome|spontaneous perforation of esophagus											UMLS:C0238115|GARD:0009261|SCTID:19995004|MESH:C536571														https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome				owl:Class
MONDO:0004498	biolink:NamedThing	sacral spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the sacral region of the spinal cord.	mondoexuq1wtf	sacral intraspinal meningioma|meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord											NCIT:C5299|DOID:8203|UMLS:C1335893																		owl:Class
MONDO:0012752	biolink:NamedThing	aneurysm, intracranial berry, 6		mondoexuq1wtf	ANIB6|aneurysm, intracranial BERRY, 6											OMIM:611892|UMLS:C2678469|MESH:C567500																		owl:Class
MONDO:0016483	biolink:NamedThing	intracranial berry aneurysm	An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.	mondoexuq1wtf	familial berry aneurysm|familial aneurysmal subarachnoid hemorrhage|familial cerebral saccular aneurysm|saccular cerebral aneurysm|aneurysm, intracranial berry|familial intracranial saccular aneurysm											HP:0007029|DOID:0060228|Orphanet:231160|ICD10:I67.1|OMIMPS:105800|ICD10:I60.7|UMLS:CN230268|SCTID:703226008																		owl:Class
MONDO:0004170	biolink:NamedThing	nodular episcleritis		mondoexuq1wtf												ICD9:379.02|ICD10:H15.12|DOID:728|SCTID:70558001|COHD:433207|UMLS:C0155352																		owl:Class
MONDO:0001269	biolink:NamedThing	scleral disease	A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.	mondoexuq1wtf	sclera disease|sclera disorder|disorder of sclera|disease or disorder of sclera|sclera disease or disorder|disease of sclera|scleral disorder											DOID:11343|NCIT:C79717|MESH:D015422|ICD10:H15|ICD10:H15.9|SCTID:33064008|UMLS:C0036412|ICD9:379.19																		owl:Class
MONDO:0011832	biolink:NamedThing	autosomal dominant nonsyndromic deafness 44	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.	mondoexuq1wtf	deafness, autosomal dominant 44|CCDC50 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 44|deafness, autosomal dominant type 44|autosomal dominant nonsyndromic deafness type 44|DFNA44|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50											ICD10:H90.3|MESH:C564399|DOID:0110569|OMIM:607453|UMLS:C1843895																		owl:Class
MONDO:0006743	biolink:NamedThing	endocrine tuberculosis	Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.	mondoexuq1wtf												EFO:1000917|MESH:D014383|UMLS:C0041310																		owl:Class
MONDO:0010457	biolink:NamedThing	Ogden syndrome	Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.	mondoexuq1wtf	Acetyl-CoA:arylamine n-acetyltransferase|N acetyltransferase 1 deficiency|X-linked malformation and infantile lethality syndrome|NAT1 deficiency|arylamine n-acetyltransferase 1|OGDNS|N-terminal acetyltransferase deficiency|Ogden syndrome|N-alpha-acetyltransferase|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|N acetyltransferase deficiency					Editor note: check GARD						HGNC:7645|DOID:0050781|MESH:C536107|UMLS:C3275447|OMIM:300855|GARD:0000188|Orphanet:276432																		owl:Class
MONDO:0003455	biolink:NamedThing	bile duct papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.	mondoexuq1wtf	intraductal papillary neoplasm|bile duct papillary neoplasm|IPN|biliary papillomatosis|bile duct papillary epithelial neoplasm|bile duct papillomatosis											DOID:5468|NCIT:C6881|ICDO:8503/0|UMLS:C1879344																		owl:Class
MONDO:0006209	biolink:NamedThing	fibroblastic neoplasm	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	mondoexuq1wtf	fibrogenic neoplasm|fibroblastic neoplasm|fibrogenicTumor|fibrocytic tumor|fibroblastic tumor|fibrous tumor|fibrous neoplasm|fibrocytic neoplasm											NCIT:C7075|EFO:1000255																		owl:Class
MONDO:0019112	biolink:NamedThing	cancer-associated retinopathy	Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.	mondoexuq1wtf	paraneoplastic retinopathy|CAR syndrome											Orphanet:71505|SCTID:404663008|ICD9:362.10|MESH:D059545																		owl:Class
MONDO:0003137	biolink:NamedThing	diffuse glomerulonephritis	Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.	mondoexuq1wtf												DOID:4781|UMLS:C0859036|NCIT:C35799																		owl:Class
MONDO:0003507	biolink:NamedThing	choriocarcinoma of ovary	A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.	mondoexuq1wtf	choriocarcinoma of ovary|ovary choriocarcinoma (disease)|germ cell choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|ovarian germ cell choriocarcinoma|ovarian choriocarcinoma|choriocarcinoma of the ovary											EFO:1000413|SCTID:254870004|DOID:5550|UMLS:C0346181|NCIT:C4515																		owl:Class
MONDO:0004337	biolink:NamedThing	perianal skin Paget disease	Paget disease involving the perianal skin.	mondoexuq1wtf	perianal skin Paget disease|anal margin Paget's disease|perianal skin Paget's disease|Paget disease of the anal margin|perianal skin mammary Paget's disease|Paget's disease of the anal margin											UMLS:C1332270|NCIT:C7476|DOID:7708																		owl:Class
MONDO:0009941	biolink:NamedThing	Pygmy		mondoexuq1wtf	Pygmy|Pygmy, African											OMIM:265850|UMLS:C1849524																		owl:Class
MONDO:0001977	biolink:NamedThing	ureteral lymphoma	A lymphoma that involves the ureter.	mondoexuq1wtf	primary ureter lymphoma|ureter lymphoma|lymphoma of the ureter|lymphoma of ureter|ureteral lymphoma											DOID:14489|UMLS:C1336876|NCIT:C6175																		owl:Class
MONDO:0019669	biolink:NamedThing	hypochondrogenesis		mondoexuq1wtf												Orphanet:93297|DOID:0080044|ICD10:Q77.0																		owl:Class
MONDO:0018956	biolink:NamedThing	idiopathic bronchiectasis	Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).	mondoexuq1wtf												SCTID:233629001|Orphanet:60033|UMLS:C0339985|ICD10:J47																		owl:Class
MONDO:0008106	biolink:NamedThing	nystagmus 2, congenital, autosomal dominant		mondoexuq1wtf	Nystagmus, congenital motor, 2|NYSTAGMUS 2, congenital, autosomal dominant|NYS2|Nystagmus congenital, motor 2											OMIM:164100|GARD:0009599|MESH:C537854																		owl:Class
MONDO:0019866	biolink:NamedThing	mosaic trisomy 5	Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	mondoexuq1wtf	trisomy 5 mosaicism|Mosaic trisomy type 5|Mosaic trisomy chromosome 5											Orphanet:96060|ICD10:Q92.1|MESH:C537762|SCTID:764629008																		owl:Class
MONDO:0020051	biolink:NamedThing	total autosomal trisomy		mondoexuq1wtf												Orphanet:98131																		owl:Class
MONDO:0024621	biolink:NamedThing	serous cystadenocarcinoma	A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.	mondoexuq1wtf	serous adenocarcinoma|serous cystadenocarcinoma											NCIT:C3778|ICDO:8441/3																		owl:Class
MONDO:0045071	biolink:NamedThing	mycosis fungoides variant		mondoexuq1wtf	mycosis fungoides variant											NCIT:C39644|UMLS:C1513782																		owl:Class
MONDO:0000607	biolink:NamedThing	primary cutaneous T-cell non-Hodgkin lymphoma	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.	mondoexuq1wtf	cutaneous T-cell non-Hodgkin's lymphoma|primary cutaneous T-cell non-Hodgkin's lymphoma|CTCL|skin T-cell non-Hodgkin's lymphoma|cutaneous T cell lymphoma|cutaneous T-cell non-Hodgkin lymphoma|T-cell non-Hodgkin's lymphoma of skin|T-cell non-Hodgkin's lymphoma of the skin|primary cutaneous T-cell non-Hodgkin lymphoma|PCTCL|cutaneous T-cell lymphoma											EFO:0002913|MESH:D016410|ICDO:9709/3|NCIT:C3467|DOID:0060061																		owl:Class
MONDO:0000461	biolink:NamedThing	nutritional biotin deficiency		mondoexuq1wtf	biotin deficiency disease|vitamine B7 deficiency|biotin deficiency|B7 deficiency					Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this?						DOID:0050810|SCTID:49607006|MESH:C531633																		owl:Class
MONDO:0011585	biolink:NamedThing	autosomal recessive distal spinal muscular atrophy 2	Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).	mondoexuq1wtf	hereditary motor neuropathy, Jerash type|spinal muscular atrophy Jerash type|HMNJ|motor neuropathy, distal, Jerash type|dHMNJ|MNDJ|spinal muscular atrophy, distal, autosomal recessive, type 2|DSMA2|spinal muscular atrophy, distal, autosomal recessive, 2|autosomal recessive distal spinal muscular atrophy type 2|neuronopathy, distal hereditary motor, Jerash type|spinal muscular atrophy, Jerash type|distal hereditary motor neuropathy Jerash type|distal hereditary motor neuropathy, Jerash type|neuropathy, distal hereditary motor, Jerash type											OMIM:605726|DOID:0111065|SCTID:763533003|Orphanet:139552|GARD:0010133|ICD10:G12.2|MESH:C535715																		owl:Class
MONDO:0015895	biolink:NamedThing	syndrome with hypoparathyroidism		mondoexuq1wtf												UMLS:CN200505|Orphanet:181402																		owl:Class
MONDO:0100224	biolink:NamedThing	mitochondrial complex I deficiency, nuclear type 1		mondoexuq1wtf	MC1DN1|mitochondrial complex 1 deficiency|NADH-coenzyme Q reductase deficiency|NADH:Q(1) oxidoreductase deficiency|mitochondrial complex I deficiency|mitochondrial NADH dehydrogenase component of Complex I, deficiency of							http://orcid.org/0000-0001-5208-3432				ICD10:G71.3|GARD:0003908|UMLS:C1838979|OMIM:252010																		owl:Class
MONDO:0024456	biolink:NamedThing	anterior segment dysgenesis 3	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)	mondoexuq1wtf	iridogoniodysgenesis caused by mutation in FOXC1|glaucoma iridogoniodysplasia, familial|iris hypoplasia with glaucoma|iridogoniodysgenesis anomaly, autosomal dominant|glaucoma iridogoniodysgenesia|IRID1|iridogoniodysgenesis, type 1|ASGD3|IGDA syndrome|IGDA|iridogoniodysgenesis type 1|anterior segment dysgenesis 3|FOXC1 iridogoniodysgenesis					Editor note: check GARD re 2482						MESH:C535535|GARD:0002978|GARD:0002482|OMIM:601631|DOID:0080608														https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia				owl:Class
MONDO:0022559	biolink:NamedThing	benign angiitis of the central nervous system	A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.	mondoexuq1wtf	BACNS											GARD:0008704														https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system				owl:Class
MONDO:0024552	biolink:NamedThing	linear skin defects with multiple congenital anomalies 1	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.	mondoexuq1wtf	HCCS microphthalmia with linear skin defects syndrome|LSDMCA1|microphthalmia, syndromic 7|microphthalmia, dermal aplasia, and sclerocornea|Midas syndrome|microphthalmia with linear skin defects syndrome caused by mutation in HCCS|microphthalmia with linear skin defects|linear skin defects with multiple congenital anomalies 1					Editor note: this is in two OMIMPSs, see notes on parent						OMIM:309801																		owl:Class
MONDO:0010672	biolink:NamedThing	linear skin defects with multiple congenital anomalies	A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.	mondoexuq1wtf	microphthalmia dermal aplasia and sclerocornea syndrome|linear skin defects with multiple congenital anomalies type 1|MCOPS7|microphthalmia-dermal aplasia-sclerocornea syndrome|linear skin defects with multiple congenital anomalies 1|linear skin defects with multiple congenital anomalies|MIDAS syndrome|syndromic microphthalmia type 7|Micropthalmia syndromic 7|LSDMCA1|microphthalmia with linear skin defects syndrome|MLS syndrome					Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM.						MESH:C537466|Orphanet:2556|SCTID:721879006|GARD:0003659|OMIMPS:309801|ICD10:Q11.2|DC:0000705														https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome				owl:Class
MONDO:0005023	biolink:NamedThing	ductal breast carcinoma in situ	A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.	mondoexuq1wtf	mammary duct in situ carcinoma|non-infiltrating ductal breast adenocarcinoma|non-invasive intraductal breast adenocarcinoma|non-invasive ductal breast carcinoma|non-infiltrating ductal adenocarcinoma of breast|stage 0 mammary duct carcinoma|mammary duct carcinoma in situ|breast ductal carcinoma in situ|DCIS|ductal carcinoma in situ of the breast|ductal carcinoma in situ (DCIS)|non-infiltrating intraductal carcinoma|non-invasive ductal breast adenocarcinoma|non-invasive intraductal adenocarcinoma of the breast|non-infiltrating ductal carcinoma of the breast|non-infiltrating intraductal adenocarcinoma|non-invasive intraductal adenocarcinoma of breast|non-invasive ductal adenocarcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating ductal adenocarcinoma of the breast|ductal carcinoma in situ of breast|intraductal carcinoma|non-invasive ductal adenocarcinoma of breast|intraductal carcinoma of breast|intraductal carcinoma of the breast|ductal carcinoma in situ|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating ductal breast carcinoma|ductal breast carcinoma in situ|intraductal breast carcinoma|non-infiltrating intraductal adenocarcinoma of breast|non-invasive ductal carcinoma of the breast|non-infiltrating ductal carcinoma of breast|non-invasive ductal carcinoma of breast|carcinoma in situ of mammary duct											NCIT:C2924|MESH:D002285|ICDO:8500/2|DOID:0060074|EFO:0000432|ONCOTREE:DCIS|ICD9:233.0																		owl:Class
MONDO:0003218	biolink:NamedThing	adenocarcinoma in situ	A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.	mondoexuq1wtf	adenocarcinoma in situ|AIS											ONCOTREE:AIS|MESH:D065311|DOID:4943|UMLS:C0334276|NCIT:C4123|ICDO:8140/2																		owl:Class
MONDO:0004100	biolink:NamedThing	lung mixed small cell and squamous cell carcinoma	A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.	mondoexuq1wtf	small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|small cell and squamous cell carcinoma of the lung|mixed small cell and squamous cell carcinoma of the lung|mixed small cell and squamous cell carcinoma of lung|small cell and large cell carcinoma of the lung|combined small cell and squamous cell lung carcinoma											NCIT:C9423|DOID:7081|UMLS:C1334788																		owl:Class
MONDO:0005454	biolink:NamedThing	lung neuroendocrine neoplasm	A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.	mondoexuq1wtf	lung neuroendocrine tumor|lung neuroendocrine neoplasm|lung neuroendocrine tumor, well differentiated, low or intermediate grade|pulmonary neuroendocrine neoplasm|neuroendocrine neoplasm of the lung|pulmonary neuroendocrine tumor|lung NET|neuroendocrine neoplasm of lung											EFO:0005220|ONCOTREE:LNET|DOID:5410|SCTID:707594002|UMLS:C1334452|ICD9:209.61|NCIT:C5670																		owl:Class
MONDO:0025193	biolink:NamedThing	oculopharyngodistal myopathy	Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.	mondoexuq1wtf	OPDM|oculopharyngeal distal myopathy|oculopharyngodistal myopathy|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement											ICD10:G71.0|SCTID:763829004|GARD:0012592|OMIMPS:164310|MESH:C563508|UMLS:C1834014|Orphanet:98897														https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy				owl:Class
MONDO:0018949	biolink:NamedThing	distal myopathy	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.	mondoexuq1wtf	distal myopathy|Miyoshi muscular dystrophy|distal muscular dystrophy											ICD10:G71.0|UMLS:C0751336|NCIT:C84675|Orphanet:599|SCTID:58795000|DOID:11720																		owl:Class
MONDO:0054764	biolink:NamedThing	neurodegeneration with brain iron accumulation 8		mondoexuq1wtf	NBIA8|neurodegeneration with brain iron accumulation 8											UMLS:CN895591|OMIM:617917																		owl:Class
MONDO:0012940	biolink:NamedThing	inflammatory bowel disease 24	An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.	mondoexuq1wtf	inflammatory bowel disease 24|IBD24|inflammatory bowel disease type 24											DOID:0110908|MESH:C567252|OMIM:612566|UMLS:C2675509																		owl:Class
MONDO:0016385	biolink:NamedThing	hypogonadism-mitral valve prolapse-intellectual disability syndrome	This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	mondoexuq1wtf	primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome|Cantalamessa-Baldini-Ambrosi syndrome											ICD10:Q87.8|MESH:C537981|SCTID:721841001|GARD:0001078|Orphanet:2233|UMLS:C2931685																		owl:Class
MONDO:0005372	biolink:NamedThing	male infertility	The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.	mondoexuq1wtf	infertility disorder of male reproductive system|male reproductive system infertility|male reproductive system infertility disorder											EFO:0004248|ICD10:N46.9|DOID:12336|COHD:198197|UMLS:C0021364|ICD9:606.9|SCTID:2904007|ICD9:606|ICD10:N46|MESH:D007248																		owl:Class
MONDO:0005566	biolink:NamedThing	neonatal abstinence syndrome	A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.	mondoexuq1wtf	neonatal narcotic withdrawal syndrome|drug withdrawal syndrome in newborn|NAS|neonatal withdrawal											UMLS:C0027609|ICD10:P96.1|ICD9:760.8|COHD:4212326|SCTID:414819007|NCIT:C87101|ICD9:779.5|DOID:9828|EFO:0005799|MESH:D009357																		owl:Class
MONDO:0018226	biolink:NamedThing	infantile epileptic-dyskinetic encephalopathy	Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	mondoexuq1wtf												ICD10:G40.4|Orphanet:364063																		owl:Class
MONDO:0018329	biolink:NamedThing	persistent combined dystonia		mondoexuq1wtf												ICD10:G24.1|Orphanet:391711																		owl:Class
MONDO:0015374	biolink:NamedThing	primary central nervous system vasculitis		mondoexuq1wtf	primary CNS vasculitis|primary angiitis of the central nervous system|isolated angiitis of the central nervous system|granulomatous angiitis of the central nervous system|primary central nervous system vasculitis|PCNSV|PACNS|primary vasculitis of the central nervous system											MESH:C537295|Orphanet:140989|ICD10:I67.7|GARD:0008703														https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system				owl:Class
MONDO:0019245	biolink:NamedThing	lysosomal lipid storage disorder	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.	mondoexuq1wtf	lipoidoses|lipid storage disease|inborn lipid storage disorder|lipidoses|lipoidosis|inborn error of lipid storage|rare inborn error of lipid storage|lipoid storage disorder|lipidosis|lipoid storage disease|lipoid storage diseas											ICD10:E75.5|UMLS:CN205834|ICD9:272.7|ICD10:E75.6|SCTID:10741005|DOID:9455|MESH:D008064|Orphanet:79204|ICD9:272.8																		owl:Class
MONDO:0019078	biolink:NamedThing	Ritscher-Schinzel syndrome	Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	mondoexuq1wtf	Dandy-Walker-like malformation with ASD|Ritscher Schinzel syndrome|Craniocerebellocardiac dysplasia|craniocerebellocardiac dysplasia|Dandy-Walker like malformation with atrioventricular septal defect|3C syndrome|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|Ritscher-Schinzel syndrome|CCC dysplasia|cranio-cerebello-cardiac dysplasia											ICD10:Q87.8|GARD:0005666|SCTID:718556007|MESH:C535313|UMLS:C0796137|OMIMPS:220210|Orphanet:7|DOID:0060565														https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect				owl:Class
MONDO:0019599	biolink:NamedThing	primary lipodystrophy	Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).	mondoexuq1wtf												Orphanet:90970|ICD10:E88.1																		owl:Class
MONDO:0021577	biolink:NamedThing	malignant mediastinal neural neoplasm		mondoexuq1wtf	malignant neuroma of mediastinum											SCTID:278044006|UMLS:C0349665																		owl:Class
MONDO:0011372	biolink:NamedThing	microcephaly with simplified gyral pattern		mondoexuq1wtf	microcephaly with simplified gyral pattern											MESH:C566332|UMLS:C1863516|OMIM:603802																		owl:Class
MONDO:0025130	biolink:NamedThing	swine vesicular disease	An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.	mondoexuq1wtf	vesicular diseases, swine|swine vesicular diseases|vesicular disease, swine											UMLS:C0039010|MESH:D013555																		owl:Class
MONDO:0000304	biolink:NamedThing	penicilliosis	A disease caused by infection with Talaromyces marneffei.	mondoexuq1wtf	infection due to Penicillium marneffei|Talaromyces marneffei disease or disorder|infection caused by Penicillium marneffei|Penicillium marneffei infectious disease|Talaromyces marneffei infectious disease|infection caused by Talaromyces marneffei|Talaromyces marneffei caused disease or disorder											UMLS:C1274008|DOID:0050288|SCTID:713315007|SCTID:372936000																		owl:Class
MONDO:0045033	biolink:NamedThing	opportunistic systemic mycosis	A mycosis that arises from infection in an immunologically compromised host and is systemic.	mondoexuq1wtf																														owl:Class
MONDO:0013993	biolink:NamedThing	pontocerebellar hypoplasia type 7	Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	mondoexuq1wtf	TOE1 non-syndromic pontocerebellar hypoplasia|PCH7|pontocerebellar hypoplasia, type 7|pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1											ICD10:Q04.3|UMLS:C3554226|OMIM:614969|DOID:0060276|SCTID:718605009|Orphanet:284339																		owl:Class
MONDO:0005032	biolink:NamedThing	follicular thyroid adenoma	A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.	mondoexuq1wtf	thyroid adenoma|follicular thyroid adenoma|follicular adenoma of thyroid gland|thyroid follicle adenoma|thyroid follicular adenoma|follicular adenoma (morphologic abnormality)|thyroid gland adenoma|adenoma of the thyroid gland|follicular adenoma of the thyroid gland|adenoma, follicular cell, benign|follicular adenoma of thyroid|adenoma of the thyroid|thyroid gland follicular adenoma|adenoma of thyroid gland|follicular adenoma|follicular adenoma of the thyroid|adenoma of thyroid											NCIT:C3502|UMLS:C0205647|DOID:6204|SCTID:255034006|ICDO:8330/0|EFO:0000499																		owl:Class
MONDO:0014564	biolink:NamedThing	congenital bile acid synthesis defect 5	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.	mondoexuq1wtf	bile acid synthesis defect, congenital, 5|congenital bile acid synthesis defect caused by mutation in ABCD3|CBAS5|ABCD3 congenital bile acid synthesis defect|congenital bile acid synthesis defect type 5|bile acid synthesis defect, congenital, type 5											DOID:0111066|OMIM:616278																		owl:Class
MONDO:0018841	biolink:NamedThing	congenital bile acid synthesis defect		mondoexuq1wtf	cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|bile acid synthesis defect, congenital|CBA|BASD											UMLS:CN239183|DOID:0050674|OMIMPS:607765|ICD10:K76.8|Orphanet:485631|EFO:0009039																		owl:Class
MONDO:0017034	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood		mondoexuq1wtf	secondary ILD in childhood and adulthood											UMLS:CN202346|Orphanet:264944																		owl:Class
MONDO:0017030	biolink:NamedThing	interstitial lung disease in childhood and adulthood		mondoexuq1wtf	ILD in childhood and adulthood											UMLS:CN202341|Orphanet:264757																		owl:Class
MONDO:0013844	biolink:NamedThing	stuttering, familial persistent, 4		mondoexuq1wtf	STUT4|stuttering, familial persistent, 4											OMIM:614668|UMLS:C3553403																		owl:Class
MONDO:0000723	biolink:NamedThing	stutter disorder	A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.	mondoexuq1wtf	stuttering|familial persistent stuttering|stammering|stutter|stuttering, familial persistent					Editor note: check this; consider subclass for familial						NCIT:C35043|ICD10:F80.81|DOID:0060243|OMIMPS:184450																		owl:Class
MONDO:0009575	biolink:NamedThing	thiamine-responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.	mondoexuq1wtf	thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1|thiamine-responsive megaloblastic anemia syndrome|thiamine-responsive anemia syndrome|THMD1|Rogers syndrome|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine responsive megaloblastic anemia syndrome|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|TRMA|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|thiamine-responsive Anemia syndrome											MESH:C536510|SCTID:237617006|OMIM:249270|GARD:0009210|Orphanet:49827|ICD10:Q21.0|GARD:9210|DOID:0090117														https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome				owl:Class
MONDO:0014124	biolink:NamedThing	Adams-Oliver syndrome 4	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.	mondoexuq1wtf	Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4|AOS4|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in EOGT											OMIM:615297|UMLS:C3809092																		owl:Class
MONDO:0014916	biolink:NamedThing	developmental and epileptic encephalopathy, 41	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 41|SLC1A2 early infantile epileptic encephalopathy|EIEE41|early infantile epileptic encephalopathy caused by mutation in SLC1A2|DEE41|epileptic encephalopathy, early infantile, type 41|epileptic encephalopathy, early infantile, 41; EIEE41											UMLS:C4310717|OMIM:617105|DOID:0080442																		owl:Class
MONDO:0016022	biolink:NamedThing	early myoclonic encephalopathy	Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.	mondoexuq1wtf	myoclonic seizure|myoclonus epilepsy|early myoclonic encephalopathy with suppression-bursts|eme|epileptic seizures, myoclonic|early myoclonic encephalopathy|epileptic seizures - myoclonic|myoclonic seizure disorder|myoclonia epileptica|myoclonic epilepsy											ICD10:G40.4|UMLS:C0014550|UMLS:C0270855|NCIT:C116593|SCTID:44423001|DOID:308|EFO:1001900|GARD:0007142|Orphanet:1935																		owl:Class
MONDO:0019349	biolink:NamedThing	Sotos syndrome	Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.	mondoexuq1wtf	cerebral gigantism syndrome|Sotos' syndrome|cerebral gigantism|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development											UMLS:CN239475|NCIT:C75019|MESH:D058495|ICD10:Q87.3|MedDRA:10064387|UMLS:C0175695|OMIMPS:117550|GARD:0010091|Orphanet:821|DOID:14748																		owl:Class
MONDO:0024488	biolink:NamedThing	tumor grading characteristic	A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread	mondoexuq1wtf																														owl:Class
MONDO:0011278	biolink:NamedThing	bile duct cysts		mondoexuq1wtf	choledochocele|bile duct cysts|choledochal cysts											GARD:0009229|OMIM:603003|ICD9:576.8|SCTID:397868007																		owl:Class
MONDO:0002470	biolink:NamedThing	photosensitive trichothiodystrophy	A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway	mondoexuq1wtf	sulfur-deficient brittle hair syndrome|trichothiodystrophy|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|IBIDS syndrome|Tay syndrome|trichothiodystrophy with congenital ichtyosis|trichothiodystrophy with congenital ichthyosis											GARD:0002944|DOID:2960|Orphanet:453|UMLS:CN205101																		owl:Class
MONDO:0020545	biolink:NamedThing	staphylococcal toxic-shock syndrome	Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.	mondoexuq1wtf	Staphylococcus toxic shock syndrome|Staphylococcus caused toxic shock syndrome|staphylococcal TSS											Orphanet:99919|ICD10:A48.3|ICD9:040.89|MedDRA:10044250|SCTID:240450004																		owl:Class
MONDO:0017739	biolink:NamedThing	disorder of lysosomal-related organelles		mondoexuq1wtf												UMLS:CN227186|Orphanet:309340																		owl:Class
MONDO:0012794	biolink:NamedThing	ANE syndrome	ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.	mondoexuq1wtf	alopecia, neurologic defects, and endocrinopathy syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome|anes|ANE syndrome											OMIM:612079|Orphanet:157954|MESH:C567425|UMLS:C2677535																		owl:Class
MONDO:0001942	biolink:NamedThing	generalized anxiety disorder	An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.	mondoexuq1wtf	GAD											EFO:1001892|ICD10:F41.1|COHD:434613|NCIT:C92622|ICD9:300.02|SCTID:21897009|DOID:14320																		owl:Class
MONDO:0013165	biolink:NamedThing	hereditary spastic paraplegia 45	Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	mondoexuq1wtf	autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|autosomal recessive spastic paraplegia type 45|NT5C2 autosomal recessive complex spastic paraplegia|SPG65|autosomal recessive spastic paraplegia 45|autosomal recessive spastic paraplegia type 65|hereditary spastic paraplegia type 45|spastic paraplegia 45, autosomal recessive|SPG45											OMIM:613162|ICD10:G11.4|DOID:0110797|SCTID:765753004|Orphanet:320396|UMLS:CN203996																		owl:Class
MONDO:0013901	biolink:NamedThing	spermatogenic failure 10	Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.	mondoexuq1wtf	spermatogenic failure type 10|spermatogenic failure with defective sperm annulus|SPGF10|spermatogenic failure 10|azoospermia caused by mutation in SEPT12|SEPT12 azoospermia											DOID:0070178|UMLS:C3553793|OMIM:614822																		owl:Class
MONDO:0017173	biolink:NamedThing	non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.	mondoexuq1wtf	isolated male infertility due to sperm motility disorder|nonsyndromic male infertility due to sperm motility disorder|non-syndromic male infertility due asthenozoospermia											ICD10:N46|Orphanet:276234|UMLS:CN202602																		owl:Class
MONDO:0042499	biolink:NamedThing	benign familial neonatal-infantile seizures 1		mondoexuq1wtf	benign infantile familial convulsions 1|benign familial infantile convulsions syndrome 1|benign familial infantile convulsions syndrome|seizures, benign familial infantile, 1|BFIC1|benign infantile familial convulsions|convulsions, benign familial infantile, 1|BFIS1											GARD:0000856|OMIM:601764																		owl:Class
MONDO:0010403	biolink:NamedThing	albinism-deafness syndrome	Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	mondoexuq1wtf	Alds|albinism-deafness syndrome|ADFN|Woolf's syndrome|Ziprkowski–Margolis syndrome|albinism deafness syndrome|Woolf syndrome					Editor note: check whether precisely identicial to Woolf syndrome						GARD:0000589|SCTID:74320008|MESH:C537042|Orphanet:998|OMIM:300700|SCTID:722285005|ICD10:H90.5														https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome				owl:Class
MONDO:0005620	biolink:NamedThing	cerebral amyloid angiopathy	Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	mondoexuq1wtf	hereditary cerebral haemorrhage with amyloidosis - Dutch type|dutch hereditary cerebral amyloid angiopathy|HCHWA|cerebral amyloid angiopathy, familial|CAA, familial|cerebral amyloid angiopathy, genetic											MESH:D016657|GARD:0010266|ICD9:277.39|Orphanet:85458|ICD10:I68.0|DOID:9246|NCIT:C84625|SCTID:230724001|ICD10:I68.0*|ICD10:E85.4+|COHD:4045749|EFO:0006790																		owl:Class
MONDO:0020144	biolink:NamedThing	cerebrovascular dementia		mondoexuq1wtf	rare cerebrovascular dementia											Orphanet:98549																		owl:Class
MONDO:0020764	biolink:NamedThing	carcinoma, Brown-Pearce		mondoexuq1wtf	Epithelioma, Brown-Pearce|Brown-Pearce Epithelioma|Brown-Pearce Carcinoma|Epithelioma, Brown Pearce|Carcinoma, Brown-Pearce|Carcinoma, Brown Pearce											EFO:1001278|MESH:D002284|UMLS:C0007122																		owl:Class
MONDO:0001092	biolink:NamedThing	colon leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	colonic leiomyoma|colon leiomyoma|leiomyoma of colon|leiomyoma of the colon											DOID:10656|NCIT:C5492|UMLS:C1333092																		owl:Class
MONDO:0002278	biolink:NamedThing	benign colon neoplasm	A non-metastasizing neoplasm arising from the wall of the colon.	mondoexuq1wtf	colonic tumor|benign colon neoplasm|benign tumor of colon|colon neoplasm|benign colonic tumor|benign colon tumor|benign tumor of the colon|benign neoplasm of colon|colonic benign neoplasm|colonic Mass|benign colonic neoplasm|colon benign neoplasm|benign neoplasm of the colon										MONDO:0021466	NCIT:C2894|DOID:235|SCTID:92065004|UMLS:C0004991|ICD9:211.3																		owl:Class
MONDO:0012019	biolink:NamedThing	spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.	mondoexuq1wtf	spondyloepiphyseal dysplasia, Kimberley type|SEDK|Sedk											MESH:C564252|OMIM:608361|SCTID:719203001|ICD10:Q77.7|Orphanet:93283																		owl:Class
MONDO:0012420	biolink:NamedThing	autosomal recessive nonsyndromic deafness 49	An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.	mondoexuq1wtf	DFNB49|autosomal recessive deafness 49|deafness, autosomal recessive type 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|autosomal recessive nonsyndromic deafness type 49|deafness, autosomal recessive 49|MARVELD2 autosomal recessive nonsyndromic deafness											ICD10:H90.3|NCIT:C129024|OMIM:610153|DOID:0110506|MESH:C565717|UMLS:C1857811																		owl:Class
MONDO:0015766	biolink:NamedThing	cholera	Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.	mondoexuq1wtf	Vibrio cholerae infectious disease|cholera - Vibrio cholerae|cholera due to Vibrio cholerae|Vibrio cholerae caused disease or disorder|Vibrio cholerae infection|Vibrio cholerae disease or disorder|Vibrio cholerae											ICD9:001|COHD:198677|DOID:1498|ICD10:A00.9|Orphanet:173|ICD10:A00.0|SCTID:63650001|MESH:D002771|UMLS:C0008354|MedDRA:10008631|ICD10:A00|ICD9:001.0|GARD:0006043|ICD10:A00.1|ICD9:001.9														https://rarediseases.info.nih.gov/diseases/6043/cholera				owl:Class
MONDO:0008511	biolink:NamedThing	proximal symphalangism	Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	mondoexuq1wtf	Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|hereditary absence of the proximal interphalangeal joints|Strasburger-Hawkins-Eldridge syndrome|proximal symphalangism (disease)|vessel’s syndrome|Cushing's symphalangism|hereditary absence of proximal interphalangeal joints|proximal symphalangism|symphalangism, Cushing type		proximal symphalangism (disease)									OMIMPS:185800|Orphanet:3250|GARD:0008182|DOID:0050788|ICD10:Q70.9|UMLS:C1861385|HP:0100264|KEGG:H00484|MESH:C536223																		owl:Class
MONDO:0019179	biolink:NamedThing	monosomy 9q22.3	Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.	mondoexuq1wtf	microdeletion 9q22.3											ICD10:Q93.5|MESH:C579873|SCTID:724098008|UMLS:C3711390|Orphanet:77301																		owl:Class
MONDO:0010974	biolink:NamedThing	nephrotic syndrome, type 2	Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.	mondoexuq1wtf	NPHS2 nephrotic syndrome|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, idiopathic, steroid-resistant|nephrotic syndrome, steroid-resistant, autosomal recessive|SRN1|NPHS2|nephrotic syndrome, type 2											DOID:0080379|OMIM:600995|GARD:0003946																		owl:Class
MONDO:0000632	biolink:NamedThing	uterine benign neoplasm	A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.	mondoexuq1wtf	benign neoplasm of uterus|Uterous tumors, benign|Uterous neoplasms, benign|uterine tumors, benign|benign uterine neoplasms|benign uterus tumors|benign uterine neoplasm|benign tumor of uterus|benign uterine tumors|benign uterus neoplasm|uterine neoplasms, benign|benign uterine tumor|uterus benign neoplasm|benign neoplasm of the uterus|benign tumor of the uterus|benign uterus neoplasms|benign uterus tumor											UMLS:C0153999|NCIT:C3609|COHD:195500|ICD9:219.9|SCTID:92470003|ICD9:219.8|DOID:0060095																		owl:Class
MONDO:0021353	biolink:NamedThing	tumor of uterus	A neoplasm (disease) that involves the uterus.	mondoexuq1wtf	uterine tumor|uterus tumor|neoplasm of the uterus|uterus neoplasm|uterine neoplasms|uterine neoplasm|tumor of uterus|tumor of the uterus|neoplasm of uterus|uterus neoplasm (disease)											ONCOTREE:UTERUS|ICD9:239.5|SCTID:126908007|NCIT:C3435|EFO:0003859																		owl:Class
MONDO:0017757	biolink:NamedThing	disorder of metabolite absorption and transport		mondoexuq1wtf												UMLS:CN227202|Orphanet:309824																		owl:Class
MONDO:0043139	biolink:NamedThing	microcephaly sparse hair intellectual disability seizures		mondoexuq1wtf												UMLS:C2931530|MESH:C537545|GARD:0003633																		owl:Class
MONDO:0004125	biolink:NamedThing	rectum leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	rectal leiomyoma|rectum leiomyoma|leiomyoma of the rectum|leiomyoma of rectum											UMLS:C1335682|DOID:7160|NCIT:C5552																		owl:Class
MONDO:0021462	biolink:NamedThing	benign neoplasm of rectum	A benign neoplasm that involves the rectum.	mondoexuq1wtf	rectal neoplasms, benign|benign rectal neoplasm|benign rectal tumors|benign neoplasm of the rectum|rectum benign neoplasm|rectal tumors, benign|benign rectal neoplasms|benign tumor of the rectum|benign tumor of rectum|benign rectal tumor											ICD10:D12.8|SCTID:92318000|UMLS:C0496867|NCIT:C4774																		owl:Class
MONDO:0018894	biolink:NamedThing	distal hereditary motor neuropathy		mondoexuq1wtf	dSMA|distal spinal muscular atrophy|dHMN											Orphanet:53739|SCTID:230247001|GARD:0012683														https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy				owl:Class
MONDO:0000510	biolink:NamedThing	synucleinopathy	A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]	mondoexuq1wtf	alpha synucleinopathies|synucleinopathies											DOID:0050890																		owl:Class
MONDO:0017593	biolink:NamedThing	juvenile amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.	mondoexuq1wtf	juvenile Lou Gehrig disease|amyotrophic lateral sclerosis, juvenile|JALS|juvenile Charcot disease											UMLS:C3468114|SCTID:718555006|GARD:0011901|UMLS:CN239582|Orphanet:300605|ICD10:G12.2														https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis				owl:Class
MONDO:0003395	biolink:NamedThing	testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.	mondoexuq1wtf	granulosa cell neoplasm of the testis|testicular granulosa cell neoplasm|granulosa cell neoplasm of testis|granulosa cell tumor of the testis|granulosa cell tumor of testis|testis granulosa cell tumor|testicular granulosa cell tumor											UMLS:C1336709|NCIT:C6357|EFO:1000567|DOID:5331																		owl:Class
MONDO:0006036	biolink:NamedThing	granulosa cell tumor	A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.	mondoexuq1wtf	granulosa cell tumor|neoplasm of granulosa cell|granulosa cell neoplasm|granulosa cell tumour, sarcomatoid|granulosa cell neoplasm (disease)|tumor of granulosa cell|granulosa cell tumor, undetermined|granulosa cell tumor, adult type (morphologic abnormality)|granulosa cell tumor, adult type|GRCT											NCIT:C3070|MESH:D006106|EFO:1000032|DOID:2999|ONCOTREE:GRCT|UMLS:C0018206																		owl:Class
MONDO:0010483	biolink:NamedThing	X-linked intellectual disability, Cantagrel type	X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	mondoexuq1wtf	intellectual disability, X-linked type 98|mental retardation, X-linked 98|mental retardation, X-linked type 98|intellectual disability, X-linked 98|MRX98											SCTID:719016007|ICD10:Q87.8|Orphanet:85277|UMLS:C3806730|OMIM:300912																		owl:Class
MONDO:0011015	biolink:NamedThing	cataract 24	A cataract that has material basis in variation in the region 17p13.	mondoexuq1wtf	CTAA2|anterior polar cataract 24|cataract 24|anterior polar cataract 2|CTRCT24|cataract 24, anterior polar|cataract, anterior polar, 2|cataract type 24											OMIM:601202|ICD10:Q12.0|UMLS:C1832609|DOID:0110257|MESH:C537774																		owl:Class
MONDO:0020373	biolink:NamedThing	early-onset anterior polar cataract		mondoexuq1wtf	cataract anterior polar|early-onset anterior subcapsular cataract											ICD10:Q12.0|GARD:0001140|UMLS:C1855179|Orphanet:98988																		owl:Class
MONDO:0013837	biolink:NamedThing	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	mondoexuq1wtf	hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|COQ10D2|coenzyme Q10 deficiency, primary, 2|coenzyme Q10 deficiency, primary, type 2											DOID:0070239|OMIM:614651|Orphanet:254898|UMLS:C3553354|ICD10:E88.8																		owl:Class
MONDO:0020334	biolink:NamedThing	mast cell leukemia	Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.	mondoexuq1wtf	SMMCL|Mast cell leukemia|aleukemic mast cell leukemia|mast-cell leukemia											Orphanet:158799|DOID:9254|ICD10:C94.3|MedDRA:10056450|MESH:D007946|UMLS:C0023461|SCTID:110002002|ICD10:C94.30|NCIT:C3169|EFO:0007359|ICDO:9742/3|Orphanet:98851|ONCOTREE:SMMCL																		owl:Class
MONDO:0045011	biolink:NamedThing	keratinization disease		mondoexuq1wtf	keratinization disease|disorder of keratinization											SCTID:277905003|UMLS:C0475811																		owl:Class
MONDO:0007782	biolink:NamedThing	hyperthermia, cutaneous, with headaches and nausea		mondoexuq1wtf	hyperthermia, cutaneous, with headaches and nausea|farmer syndrome											UMLS:C1840373|MESH:C564156|OMIM:145590																		owl:Class
MONDO:0016003	biolink:NamedThing	ehrlichiosis	Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).	mondoexuq1wtf	human ehrlichiosis											ICD10:A48.8|DOID:10242|COHD:438342|UMLS:C0085399|ICD9:082.40|ICD9:082.4|Orphanet:1902|SCTID:240626005|ICD10:A77.4|GARD:0002092|MESH:D016873|ICD10:A77.40																		owl:Class
MONDO:0010110	biolink:NamedThing	tetraamelia-multiple malformations syndrome	Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	mondoexuq1wtf	Zimmer phocomelia|TETAMS|Tetraamelia multiple malformations X-linked|TETRAAMELIA syndrome, autosomal recessive|Zimmer Taub Sova syndrome					TODO split OMIM out						SCTID:716249009|UMLS:C2931218|MESH:C536500|ICD10:Q87.8|Orphanet:3301|GARD:0000386																		owl:Class
MONDO:0010026	biolink:NamedThing	SHORT syndrome	SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.	mondoexuq1wtf	Aarskog-Ose-Pande syndrome|partial lipodystrophy with Rieger anomaly and short stature|lipodystrophy-Rieger anomaly-diabetes syndrome|lipodystrophy, partial, with Rieger anomaly and short stature|short syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|Rieger anomaly-partial lipodystrophy syndrome											Orphanet:3163|DOID:0111454|OMIM:269880|UMLS:C0878684|MESH:C537327|GARD:0007633|ICD10:Q87.1																		owl:Class
MONDO:0031007	biolink:NamedThing	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis		mondoexuq1wtf	SHILCA|SHILCA Syndrome											OMIM:619260																		owl:Class
MONDO:0019975	biolink:NamedThing	pellagra	Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.	mondoexuq1wtf	niacin deficiency|pellagra|niacin-tryptophan deficiency											GARD:0010014|ICD9:265.2|UMLS:C4317126|DOID:8457|MedDRA:10029400|ICD10:E52|COHD:434310|EFO:0008570|SCTID:418279001|MESH:D010383|UMLS:C0030783|Orphanet:97352														https://rarediseases.info.nih.gov/diseases/10014/pellagra				owl:Class
MONDO:0100222	biolink:NamedThing	A20 haploinsufficiency	Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.	mondoexuq1wtf	HA20							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0015710	biolink:NamedThing	immune dysregulation disease with immunodeficiency		mondoexuq1wtf												Orphanet:169361|UMLS:CN200214																		owl:Class
MONDO:0010326	biolink:NamedThing	intellectual disability, X-linked 46	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|ARHGEF6 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 46|MRX46|mental retardation, X-linked type 46|intellectual disability, X-linked 46|mental retardation, X-linked 46											MESH:C564513|OMIM:300436|UMLS:C1845526																		owl:Class
MONDO:0014161	biolink:NamedThing	vesicoureteral reflux 7		mondoexuq1wtf	VUR7|vesicoureteral reflux 7											UMLS:C3809337|OMIM:615390																		owl:Class
MONDO:0024635	biolink:NamedThing	small intestine disease	A disease that involves the small intestine.	mondoexuq1wtf	disorder of small intestine|disease or disorder of small intestine|disease of small intestine|small intestine disease or disorder											SCTID:119522002|UMLS:C0341268																		owl:Class
MONDO:0019355	biolink:NamedThing	adult-onset Still disease	Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.	mondoexuq1wtf	Wissler-Fanconi syndrome|AOSD|adult-onset Still's disease|Still's disease adult onset|adult-onset Still disease|adult onset Still's disease|adult Still's disease					Editor note: check if autoimmune						ICD9:714.2|MedDRA:10064056|MedDRA:10058493|UMLS:C0085253|SCTID:68190001|GARD:0000436|UMLS:CN206037|ICD9:759.89|DOID:14256|SCTID:239920006|ICD10:M06.1|MESH:D016706|Orphanet:829|EFO:0007135														https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease				owl:Class
MONDO:0013182	biolink:NamedThing	chromosome 17p13.3 duplication syndrome	17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	mondoexuq1wtf	trisomy 17p13.3|chromosome 17p13.3, centromeric, DUPLICATION syndrome|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|17p13.3 duplication syndrome|17p13.3 microduplication syndrome											OMIM:613215|MESH:C567705|UMLS:C4304641|ICD10:Q92.3|DOID:0060432|SCTID:719582007|UMLS:C2750748|Orphanet:217385																		owl:Class
MONDO:0008209	biolink:NamedThing	Char syndrome	Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.	mondoexuq1wtf	patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|Char|CHAR syndrome|Char syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits|CHAR											OMIM:169100|SCTID:703534001|ICD10:Q87.8|DOID:0060563|ICD9:759.89|GARD:0001237|UMLS:C1868570|MESH:C566815|Orphanet:46627														https://rarediseases.info.nih.gov/diseases/1237/char-syndrome				owl:Class
MONDO:0011827	biolink:NamedThing	patent ductus arteriosus	A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.	mondoexuq1wtf	patent ductus botalli|ductus arteriosus, patent|patent ductus arteriosus familial (type)|patency of the ductus arteriosus|PDA											NCIT:C84492|MESH:D004374|OMIMPS:607411|ICD9:747.0|COHD:315922|SCTID:83330001|GARD:0007342|DOID:13832|ICD10:Q25.0														https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus				owl:Class
MONDO:0017485	biolink:NamedThing	femoral agenesis/hypoplasia, bilateral		mondoexuq1wtf	femoral intercalary meromelia, bilateral											ICD10:Q72.4|Orphanet:295067																		owl:Class
MONDO:0014744	biolink:NamedThing	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.	mondoexuq1wtf	SCAR21|spinocerebellar ataxia, autosomal recessive 21|spinocerebellar ataxia, autosomal recessive type 21|autosomal recessive spinocerebellar ataxia 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|autosomal recessive spinocerebellar ataxia 21 with hepatopathy											Orphanet:466794|OMIM:616719|UMLS:C4225236|DOID:0111155																		owl:Class
MONDO:0019601	biolink:NamedThing	autosomal recessive axonal hereditary motor and sensory neuropathy	Autosomal recessive form of axonal hereditary motor and sensory neuropathy.	mondoexuq1wtf	AR-CMT2|axonal hereditary motor and sensory neuropathy, autosomal recessive|autosomal recessive axonal Charcot-Marie-Tooth disease type 2											ICD10:G60.0|UMLS:CN206449|Orphanet:91024																		owl:Class
MONDO:0020055	biolink:NamedThing	autosomal uniparental disomy		mondoexuq1wtf												ICD10:Q99.8|Orphanet:98152|UMLS:CN229262																		owl:Class
MONDO:0020569	biolink:NamedThing	intermediate DEND syndrome	Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.	mondoexuq1wtf	developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form											Orphanet:99989|UMLS:CN207495																		owl:Class
MONDO:0005742	biolink:NamedThing	emphysematous cholecystitis	Cholecystitis resulting from infection by gas producing organisms.	mondoexuq1wtf	gaseous pericholecystitis											DOID:9765|SCTID:95558008|EFO:0007249|MESH:D041882|UMLS:C0521610|NCIT:C35592																		owl:Class
MONDO:0016599	biolink:NamedThing	autosomal dominant secondary polycythemia	Autosomal dominant form of secondary polycythemia.	mondoexuq1wtf	secondary polycythemia, autosomal dominant|autosomal dominant secondary erythrocytosis											Orphanet:247511|UMLS:CN201790|ICD10:D75.1																		owl:Class
MONDO:0009041	biolink:NamedThing	craniosynostosis-intellectual disability-clefting syndrome	A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.	mondoexuq1wtf	craniosynostosis intellectual disability clefting syndrome|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|Baraitser Rodeck garner syndrome|craniosynostosis-mental retardation-clefting syndrome|craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis mental retardation clefting syndrome											UMLS:C2931663|GARD:0001599|GARD:0000817|MESH:C565663|OMIM:218650|MESH:C537906|UMLS:C1857472																		owl:Class
MONDO:0004747	biolink:NamedThing	cleft lip	A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.	mondoexuq1wtf	cleft lip|labium leporinum|cleft lip (disease)|cleft lip, unilateral, complete|hare lip|cheiloschisis|complete unilateral cleft lip		cleft lip (disease)									ICD9:749.10|NCIT:C87175|EFO:0003959|DOID:9296|ICD9:749.11|SCTID:80281008|MESH:D002971|ICD10:Q36|ICD10:Q36.9|ICD9:749.1|HP:0410030|COHD:133861																		owl:Class
MONDO:0003725	biolink:NamedThing	breast adenosis	A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.	mondoexuq1wtf	adenosis of breast|adenosis - breast|breast adenosis|microglandular adenosis|adenosis|adenosis of the breast											DOID:5998|EFO:0006891|NCIT:C3484|UMLS:C0085750																		owl:Class
MONDO:0010651	biolink:NamedThing	Menkes disease	Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.	mondoexuq1wtf	steely hair disease|copper transport disease|Menkes kinky-hair syndrome|Menkes disease|kinky hair disease|steely hair syndrome|Menkes kinky hair syndrome|Menkes syndrome|Menkea syndrome|MNK|Trichopoliodystrophy|kinky hair syndrome|X-linked copper deficiency|Mk|MD											MESH:D007706|MedDRA:10027294|ICD10:E83.0|ICD9:759.89|DOID:1838|SCTID:59178007|UMLS:C0022716|NCIT:C75486|Orphanet:565|GARD:0001521|OMIM:309400														https://rarediseases.info.nih.gov/diseases/1521/menkes-disease				owl:Class
MONDO:0004689	biolink:NamedThing	inborn metal metabolism disorder	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.	mondoexuq1wtf	metal metabolism, inborn error|metal metabolism disorder											DOID:896|MESH:D008664|UMLS:C0025534																		owl:Class
MONDO:0009955	biolink:NamedThing	rapadilino syndrome	RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.	mondoexuq1wtf	rapadilino syndrome|radial and patellar hypoplasia|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia											SCTID:702413000|ICD10:Q87.1|MESH:C535288|GARD:0004637|UMLS:C1849453|OMIM:266280|ICD9:759.89|Orphanet:3021|DOID:0050774														https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome				owl:Class
MONDO:0012074	biolink:NamedThing	mandibuloacral dysplasia with type B lipodystrophy		mondoexuq1wtf	lipodystrophy, type B, associated with Mandibuloacral dysplasia|mandibuloacral dysplasia with type B lipodystrophy|MANDIBULOACRAL dysplasia with type B lipodystrophy|MADB											GARD:0009989|Orphanet:90154|MESH:C535706|OMIM:608612|UMLS:C1837756|ICD10:Q87.5														https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy				owl:Class
MONDO:0004817	biolink:NamedThing	non-secretory plasma cell myeloma	A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.	mondoexuq1wtf	non-secretory multiple myeloma|non-secreting myeloma|non-secretory plasma cell myeloma|non-secretory myeloma|non-functioning myeloma											SCTID:277580004|DOID:9547|NCIT:C4734|UMLS:C3898125|UMLS:C0456845																		owl:Class
MONDO:0009693	biolink:NamedThing	plasma cell myeloma	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)	mondoexuq1wtf	multiple myeloma|myeloma|myeloma, plasma cell, malignant|Kahler's disease|myeloid neoplasm of plasma cell|Kahler disease|Al amyloidosis|plasma cell myeloid neoplasm|amyloidosis, systemic|multiple myeloma/plasma cell myeloma|myeloma, multiple|myelomatosis|plasma cell myeloma|myeloma - multiple|medullary plasmacytoma											UMLS:C0026764|MedDRA:10028228|EFO:0001378|ICD9:203.0|NCIT:C3242|Orphanet:29073|ICD10:C90.0|MESH:D009101|ONCOTREE:PCM|GARD:0007108|ICDO:9732/3|DOID:9538|OMIM:254500|ICD10:C90.00|COHD:437233																		owl:Class
MONDO:0005865	biolink:NamedThing	mushroom workers' lung	An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.	mondoexuq1wtf												EFO:0007385|SCTID:52333004|ICD9:495.5|ICD10:J67.5|COHD:433233|DOID:2708|UMLS:C0155889																		owl:Class
MONDO:0004553	biolink:NamedThing	extrinsic allergic alveolitis	An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis.	mondoexuq1wtf	hypersensitivity pneumonitis|allergic form of pneumonitis|extrinsic allergic alveolitis|alveolitis|allergic pneumonitis											NCIT:C34369|MESH:D000542|ICD10:J67.9|ICD9:495.9|COHD:444084|DOID:841|ICD9:495																		owl:Class
MONDO:0007872	biolink:NamedThing	LADD syndrome	Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.	mondoexuq1wtf	lard syndrome|Lacrimoauriculodento-digital syndrome|lacrimoauriculodentodigital syndrome|LADD syndrome|levy Hollister syndrome|Lacrimo-auriculo-dento-digital syndrome|Lacrimoauriculoradiodental syndrome|LADD|levy-Hollister syndrome|LACRIMOAURICULODENTODIGITAL syndrome											MESH:C538132|OMIM:149730|GARD:0006848|Orphanet:2363|UMLS:C0265269|ICD10:Q87.8|SCTID:23817003|DOID:0050331|ICD9:759.89																		owl:Class
MONDO:0002230	biolink:NamedThing	ovarian Wilms tumor	An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.	mondoexuq1wtf	ovary Wilms tumor|ovarian Wilms' cancer|ovarian Wilms tumor|ovarian Wilms' tumor											NCIT:C40443|UMLS:C1518746|DOID:2153																		owl:Class
MONDO:0008170	biolink:NamedThing	ovarian cancer	A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.	mondoexuq1wtf	malignant ovary neoplasm|ovary cancer|malignant tumor of the ovary|ovarian neoplasm|malignant neoplasm of the ovary|malignant tumor of ovary|malignant ovarian neoplasm|ovarian cancer, epithelial|cancer of the ovary|cancer of ovary|malignant neoplasm of ovary|primary ovarian cancer|malignant ovarian tumor|ovarian cancer|malignant tumour of ovary|tumor of the ovary|ovary neoplasm|ovarian malignant tumor											ICD9:183.0|GARD:0007295|ICD10:C56|DOID:2394|SCTID:363443007|Orphanet:213500|COHD:4181351|NCIT:C7431|OMIM:167000|MESH:D010051																		owl:Class
MONDO:0011969	biolink:NamedThing	ALG8-CDG	A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	mondoexuq1wtf	ALG8-CDG (CDG-Ih)|glucosyltransferase 2 deficiency|CDG Ih|congenital disorder of glycosylation, type Ih|CDG1H|CDG-Ih|CDG syndrome type Ih|congenital disorder of glycosylation type 1h|carbohydrate deficient glycoprotein syndrome type Ih|CDG 1H|congenital disorder of glycosylation type Ih											DOID:0080560|SCTID:720977000|MESH:C535746|GARD:0009834|UMLS:C2931002|Orphanet:79325|ICD10:E77.8|OMIM:608104																		owl:Class
MONDO:0022552	biolink:NamedThing	Bazopoulou Kyrkanidou syndrome		mondoexuq1wtf												MESH:C537664|UMLS:C2931580																		owl:Class
MONDO:0007405	biolink:NamedThing	Crouzon syndrome	Crouzon disease is characterized by craniosynostosis and facial hypoplasia.	mondoexuq1wtf	Crouzon syndrome|Crouzon's disease|Crouzon disease|craniofacial dysostosis, type 1|Crouzon craniofacial dysostosis|Cfd1|craniofacial dysostosis|craniofacial dysostosis type 1											OMIM:123500|ICD10:Q75.1|UMLS:CN200892|SCTID:28861008|MESH:D003394|Orphanet:207|GARD:0006206|NCIT:C84653|DOID:2339														https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome				owl:Class
MONDO:0012598	biolink:NamedThing	fibromatosis, gingival, 4		mondoexuq1wtf	gingival fibromatosis, 4|fibromatosis, gingival, 4|fibromatosis gingival, hereditary, 4|HGF4|GGF4|fibromatosis, gingival, hereditary, 4|GINGF4|hereditary gingival fibromatosis, 4											OMIM:611010|GARD:0002475|MESH:C567028																		owl:Class
MONDO:0002750	biolink:NamedThing	bladder colloid adenocarcinoma		mondoexuq1wtf	bladder mucinous adenocarcinoma											UMLS:C1511193|NCIT:C39837|DOID:3710																		owl:Class
MONDO:0017375	biolink:NamedThing	congenital enterovirus infection	Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.	mondoexuq1wtf	congenital enterovirus infection|antenatal enterovirus infection|congenital enterovirus infectious disease|mother-to-child transmission of enterovirus infection|congenital infection caused by enterovirus											Orphanet:292|SCTID:716865000|UMLS:C4274223|ICD10:P35.8																		owl:Class
MONDO:0002494	biolink:NamedThing	substance-related disorder	A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).	mondoexuq1wtf	substance-related disorder											DOID:303|MESH:D019966|NCIT:C92203																		owl:Class
MONDO:0001081	biolink:NamedThing	acute cervicitis	Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.	mondoexuq1wtf	acute cervicitis (disease)|cervicitis (disease), acute											UMLS:C0269061|SCTID:19272000|NCIT:C27056|DOID:10616																		owl:Class
MONDO:0010279	biolink:NamedThing	terminal osseous dysplasia-pigmentary defects syndrome	Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	mondoexuq1wtf	terminal osseous dysplasia|Odpd|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|Odpf syndrome|TOD|terminal osseous dysplasia and pigmentary defects											Orphanet:88630|UMLS:C1846129|ICD10:Q87.2|OMIM:300244|MESH:C564554																		owl:Class
MONDO:0015482	biolink:NamedThing	otomandibular dysplasia		mondoexuq1wtf												Orphanet:155896																		owl:Class
MONDO:0018983	biolink:NamedThing	tolosa-Hunt syndrome	Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.	mondoexuq1wtf	painful ophthalmoplegia|tolosa Hunt syndrome|nonspecific inflammation of the cavernous sinus or superior orbital fissure|tolosa-Hunt syndrome|THS											SCTID:95794005|UMLS:C0392060|ICD10:H49.8|GARD:0007777|MedDRA:10051526|UMLS:CN205421|Orphanet:64686|DOID:1278|MESH:D020333|UMLS:C0040381|NCIT:C85193														https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome				owl:Class
MONDO:0006019	biolink:NamedThing	yaws	An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.	mondoexuq1wtf	Bouba|thymosis|polypapilloma tropicum|Treponema pallidum subsp. pertenue infectious disease|frambesia|Treponema pallidum subsp. pertenue disease or disorder|frambesia tropica|frambosie|endemic treponematoses|Treponema pertenue infection|Treponema pallidum subsp. pertenue caused disease or disorder											GARD:0007913|COHD:432829|ICD10:A66|DOID:10371|ICD10:A66.9|NCIT:C41353|ICD9:102.9|ICD9:102|EFO:0007548|MESH:D015001|ICD9:102.7|SCTID:70647001|UMLS:C0043388														https://rarediseases.info.nih.gov/diseases/7913/yaws				owl:Class
MONDO:0002987	biolink:NamedThing	spongiotic dermatitis	A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.	mondoexuq1wtf												EFO:1000768|NCIT:C27037|SCTID:23615008|UMLS:C0262984|DOID:4406|ICD9:692.9																		owl:Class
MONDO:0002406	biolink:NamedThing	dermatitis	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.	mondoexuq1wtf	zone of skin inflammation|inflammation of the skin|skin inflammation|inflammatory skin disease|inflammation of skin|inflammation of zone of skin											UMLS:C0011603|EFO:1000636|ICD9:692.9|NCIT:C2983|DOID:2723|SCTID:43116000|MESH:D003872|ICD10:L30.9																		owl:Class
MONDO:0003887	biolink:NamedThing	ovarian mucinous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.	mondoexuq1wtf	ovary mucinous adenofibroma|ovarian mucinous adenofibroma|mucinous adenofibroma of ovary											NCIT:C40040|UMLS:C1518723|DOID:6469																		owl:Class
MONDO:0012344	biolink:NamedThing	Alzheimer disease 11	An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.	mondoexuq1wtf	Alzheimer's disease 11|Alzheimer disease, familial, 11|AD11|Alzheimer's disease type 11|Ad11|Alzheimer disease 11|Alzheimer disease type 11											UMLS:C1853360|MESH:C565228|ICD10:G30|DOID:0110044|OMIM:609790																		owl:Class
MONDO:0060641	biolink:NamedThing	neurodevelopmental disorder with or without seizures and gait abnormalities		mondoexuq1wtf	NEDSGA|neurodevelopmental disorder with or without seizures and gait abnormalities											UMLS:CN800195|OMIM:617864																		owl:Class
MONDO:0009944	biolink:NamedThing	pyloric atresia		mondoexuq1wtf	pyloric atresia											SCTID:27729002|ICD9:750.7|MESH:C562561|OMIM:265950																		owl:Class
MONDO:0017537	biolink:NamedThing	Preaxial polydactyly of toes, unilateral		mondoexuq1wtf	bifid hallux, unilateral|bifid great toes, unilateral|bifid halluces, unilateral											ICD10:Q69.2|Orphanet:295175																		owl:Class
MONDO:0001858	biolink:NamedThing	Tietze syndrome	Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.	mondoexuq1wtf	Tietze's syndrome|slipping rib syndrome|Tietze syndrome|Costochondritis|Tietze's disease|Costalchondritis|costochondral joint syndromic disease|syndromic disease of costochondral joint|costochondral junction syndrome|Chondropathia tuberosa											NCIT:C168333|MESH:D013991|COHD:134461|ICD9:733.6|UMLS:C0040213|DOID:14021|SCTID:30128009|ICD10:M94.0|GARD:0010100																		owl:Class
MONDO:0005569	biolink:NamedThing	cartilage disease	Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE).	mondoexuq1wtf	cartilage disorder|disease or disorder of cartilage tissue|disease of cartilage tissue|disorder of cartilage tissue|Chondropathy|cartilage tissue disease or disorder|cartilage tissue disease					Editor note: DO places this under articular cartilage disease						DOID:1222|SCTID:50927007|COHD:4178431|ICD10:M94.9|ICD9:733.99|MESH:D002357|ICD10:M91-M94|UMLS:C0007302|EFO:0005802														https://github.com/monarch-initiative/mondo/issues/3576				owl:Class
MONDO:0013391	biolink:NamedThing	sterol carrier protein 2 deficiency	A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	mondoexuq1wtf	LKDMN|leukoencephalopathy - dystonia - motor neuropathy|leukoencephalopathy with dystonia and motor neuropathy|sterol carrier protein 2 deficiency|leukoencephalopathy-dystonia-motor neuropathy syndrome|SCP2 deficiency											GARD:0012471|Orphanet:163684|UMLS:C3150990|OMIM:613724|ICD10:E75.2																		owl:Class
MONDO:0044337	biolink:NamedThing	stromal sarcoma	A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.	mondoexuq1wtf	stromal sarcoma, malignant|stromal tumor, malignant|stromal sarcoma											NCIT:C6926|UMLS:C1370723|ICDO:8935/3																		owl:Class
MONDO:0008024	biolink:NamedThing	neuronopathy, distal hereditary motor, type 7A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.	mondoexuq1wtf	Dhmnvp|neuropathy, distal hereditary motor, type 7A|HMN 7A|HMN7A|Harper-Young myopathy|spinal muscular atrophy, distal, with vocal cord paralysis|neuronopathy, distal hereditary motor, type VIIA|neuronopathy, distal hereditary motor caused by mutation in SLC5A7|SLC5A7 neuronopathy, distal hereditary motor|Dhmn7A											UMLS:C1834703|DOID:0111201|MESH:C563562|OMIM:158580																		owl:Class
MONDO:0015355	biolink:NamedThing	distal hereditary motor neuropathy type 7	Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	mondoexuq1wtf	dHMN7|distal spinal muscular atrophy with vocal cord paralysis											ICD10:G12.2|DOID:0111199|UMLS:CN199425|Orphanet:139589																		owl:Class
MONDO:0001741	biolink:NamedThing	hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	mondoexuq1wtf	hyperparathyroidism											ICD9:252.0|NCIT:C48259|ICD9:252.00|EFO:0008506|COHD:133729|SCTID:66999008|DOID:13543|UMLS:C0020502|ICD10:E21.3|MESH:D006961																		owl:Class
MONDO:0001223	biolink:NamedThing	parathyroid gland disease	A disease involving the parathyroid gland.	mondoexuq1wtf	disease or disorder of parathyroid gland|parathyroid gland disorder|parathyroid gland diseases|disorder of parathyroid gland|parathyroid gland disease|parathyroid disease|disease of parathyroid gland|disease of parathyroid glands|parathyroid gland disease or disorder|parathyroid gland disorders											ICD9:252.8|ICD10:E21.5|SCTID:73132005|UMLS:C0030517|MESH:D010279|EFO:0005754|ICD9:252|NCIT:C26844|ICD9:252.9|COHD:138713|DOID:11201																		owl:Class
MONDO:0016931	biolink:NamedThing	partial duplication of chromosome 10		mondoexuq1wtf	partial trisomy of chromosome 10											SCTID:726349006|Orphanet:262648																		owl:Class
MONDO:0020052	biolink:NamedThing	partial autosomal trisomy/tetrasomy		mondoexuq1wtf												Orphanet:98132																		owl:Class
MONDO:0005509	biolink:NamedThing	histiocytoma	A mesenchymal tumor composed of fibroblastic and histiocytic cells.	mondoexuq1wtf	histiocytoma											DOID:4231|MESH:D051642|SCTID_2010_1_31:154614002|ICDO:8831/0|SCTID_2010_1_31:72079004|SCTID_2010_1_31:302843004|SCTID_2010_1_31:189773000|NCIT:C35765|SCTID_2010_1_31:128741006|EFO:0005561|UMLS:C1509147																		owl:Class
MONDO:0015643	biolink:NamedThing	photosensitive epilepsy	An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.	mondoexuq1wtf	PSE|photogenic epilepsy|photoparoxysmal response											SCTID:95208000|UMLS:C0393720|GARD:0005648|ICD9:345.80|DOID:0060281|ICD10:G40.8|OMIMPS:132100|Orphanet:166409														https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy				owl:Class
MONDO:0043459	biolink:NamedThing	radiation-induced disorder	A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.	mondoexuq1wtf	radiation induced abnormalities|radiation-induced disorder|abnormalities, radiation induced|Abnormality, radiation-induced|radiation-induced abnormalities|radiation-induced Abnormality											Orphanet:521132|NCIT:C26684|UMLS:C1527225|SCTID:85983004|MESH:D000016																		owl:Class
MONDO:0016318	biolink:NamedThing	progressive multifocal leukoencephalopathy	Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).	mondoexuq1wtf	leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis|PML											COHD:433957|Orphanet:217260|UMLS:C0023524|EFO:0007455|ICD9:046.3|MESH:D007968|DOID:643|MedDRA:10036807|NCIT:C26815|ICD10:A81.2|GARD:0007468|SCTID:22255007														https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy				owl:Class
MONDO:0009906	biolink:NamedThing	prenatal bowing		mondoexuq1wtf	prenatal bowing											MESH:C564873|OMIM:264050																		owl:Class
MONDO:0008882	biolink:NamedThing	congenital bowing of long bones	Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.	mondoexuq1wtf	bowing of long bones congenital|bowing of long bones, asymmetric and symmetric											OMIM:211355|GARD:0000953|SCTID:716098006|ICD10:Q68.5|ICD10:Q68.3|Orphanet:2292|ICD10:Q68.4|MedDRA:10054064|ICD10:Q68.8														https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital				owl:Class
MONDO:0007142	biolink:NamedThing	Townes-Brocks syndrome	Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.	mondoexuq1wtf	sensorineural deafness with imperforate anus and hypoplastic thumbs|renal-ear-anal-radial syndrome|Townes-Brocks syndrome|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|anus, imperforate, with hand, foot and ear anomalies|renal-Ear-anal-radial syndrome|TBS|imperforate anus with hand, foot and ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|rear syndrome|anus, imperforate, with hand, foot, and Ear anomalies|TBS1|Townes syndrome|Townes-Brocks syndrome 1|deafness, sensorineural, with imperforate anus and thumb anomalies											Orphanet:857|DOID:0050887|UMLS:CN034849|UMLS:C0265246|MESH:C536974|SCTID:24750000|NCIT:C99085|OMIMPS:107480|ICD9:759.89|GARD:0007784|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome				owl:Class
MONDO:0018175	biolink:NamedThing	combined deficiency of factor V and factor VIII	Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.	mondoexuq1wtf	FV and FVIII combined deficiency|familial multiple coagulation factor deficiency|F5F8D|combined deficiency of factor V and factor type VIII											UMLS:C1856883|SCTID:715559004|Orphanet:35909|ICD10:D68.8|DC:0000517																		owl:Class
MONDO:0024882	biolink:NamedThing	secondary neoplasm	A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	mondoexuq1wtf	secondary tumor|secondary neoplasm					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						NCIT:C36255																		owl:Class
MONDO:0023370	biolink:NamedThing	neoplastic disease or syndrome	Either an isolated neoplasm or a syndrome with neoplasm as a major feature.	mondoexuq1wtf	neoplastic disorder|neoplastic disease																													owl:Class
MONDO:0013172	biolink:NamedThing	polymicrogyria with optic nerve hypoplasia	Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.	mondoexuq1wtf	CDCBM8|polymicrogyria with optic nerve hypoplasia|cortical dysplasia, Complex, with Other brain malformations 8|cortical dysplasia, complex, with other brain malformations 8											MESH:C567715|UMLS:C2750798|OMIM:613180|Orphanet:250972																		owl:Class
MONDO:0003672	biolink:NamedThing	posterior myocardial infarction		mondoexuq1wtf	true posterior wall infarction|true posterior myocardial infarction											SCTID:194802003|UMLS:C0264706|DOID:5847																		owl:Class
MONDO:0004517	biolink:NamedThing	ureter tuberculosis	A tuberculosis that involves the ureter.	mondoexuq1wtf	tuberculosis of ureter|ureter tuberculosis											ICD9:016.2|SCTID:81359005|DOID:827|ICD9:016.20|UMLS:C0152800																		owl:Class
MONDO:0001926	biolink:NamedThing	ureteral disease	A non-neoplastic or neoplastic disorder affecting the ureter.	mondoexuq1wtf	ureter disease or disorder|ureteric disease|disease or disorder of ureter|ureter disorder|ureteric disorder|disorder of ureter|disease of ureter|ureter disease											UMLS:C0403608|NCIT:C27148|SCTID:128073008|UMLS:C0041954|DOID:1426|MESH:D014515																		owl:Class
MONDO:0002975	biolink:NamedThing	malignant breast melanoma	A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.	mondoexuq1wtf	melanoma (disease) of breast|malignant breast melanoma|breast melanoma (disease)|breast melanoma|malignant melanoma of breast|malignant melanoma of the breast											NCIT:C8410|DOID:4364|SCTID:188050009|UMLS:C0346787																		owl:Class
MONDO:0011293	biolink:NamedThing	Homocysteinemia		mondoexuq1wtf	hyperhomocysteinemia|Homocysteinemia											GARD:0008230|OMIM:603174|UMLS:C3495426														https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia				owl:Class
MONDO:0007099	biolink:NamedThing	familial visceral amyloidosis		mondoexuq1wtf	systemic nonneuropathic amyloidosis|amyloidosis, Ostertag type|hereditary renal amyloidosis|amyloidosis, familial renal|amyloidosis familial visceral|amyloidosis, familial visceral|amyloidosis 8|hereditary amyloid nephropathy|familial renal amyloidosis|Ostertag type amyloidosis|amyloidosis, systemic Nonneuropathic|amyloidosis familial renal|hereditary amyloidosis with primary renal involement|German type amyloidosis|amyloidosis VIII|amyloidosis systemic nonneuropathic|familial amyloid nephropathy											UMLS:C0268389|OMIM:105200|Orphanet:85450|GARD:0008282|DOID:0050636|MESH:C538249|SCTID:66451004|ICD9:277.39|ICD10:E85.0														https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral				owl:Class
MONDO:0019145	biolink:NamedThing	hereditary thrombophilia due to congenital protein C deficiency	Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.	mondoexuq1wtf	autosomal recessive thrombophilia due to PC deficiency|autosomal recessive thrombophilia due to congenital protein C deficiency|protein C deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|hereditary thrombophilia due to PC deficiency|Protein C deficiency|Protein C deficiency disease											ICD10:D68.59|ICD10:D68.2|NCIT:C99025|MESH:D020151|Orphanet:745|MESH:C535424|SCTID:76407009|DOID:3756																		owl:Class
MONDO:0018374	biolink:NamedThing	secondary avascular necrosis		mondoexuq1wtf	secondary AVN											Orphanet:399169|ICD10:M87.1|ICD10:M87.2|ICD10:M87.3																		owl:Class
MONDO:0011184	biolink:NamedThing	childhood apraxia of speech		mondoexuq1wtf	speech-language disorder 1|developmental verbal dyspraxia|developmental apraxia of speech|speech and language disorder with orofacial dyspraxia|articulatory apraxia|developmental verbal apraxia|CAS|speech-language disorder type 1|SPCH1|das|speech-language disorder-1|childhood apraxia of speech											OMIM:602081|ICD9:315.39|SCTID:229703009|GARD:0012889|Orphanet:209908																		owl:Class
MONDO:0004411	biolink:NamedThing	duodenal gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.	mondoexuq1wtf	gastrinoma of the duodenum|gastrin producing tumor of the duodenum|duodenal gastrin-producing NET|duodenum gastrin-producing neuroendocrine tumor|gastrin-producing neuroendocrine tumor of duodenum|duodenal gastrin-producing neuroendocrine tumor|duodenal gastrinoma|gastrinoma of duodenum|gastrin producing tumor of duodenum|malignant duodenal gastrinoma|duodenal G-cell gastrin producing tumor											DOID:7959|EFO:1000224|NCIT:C5731|UMLS:C1333321																		owl:Class
MONDO:0001134	biolink:NamedThing	essential hypertension	Hypertension that presents without an identifiable cause.	mondoexuq1wtf	primary hypertension|idiopathic hypertension											EFO:1002032|DOID:10825|MESH:C562386|ICD10:I10|UMLS:C0085580|SCTID:59621000|ICD9:401|ICD9:401.9|COHD:320128																		owl:Class
MONDO:0001108	biolink:NamedThing	broad ligament malignant neoplasm	A malignant neoplasm involving the broad ligament of uterus.	mondoexuq1wtf	broad ligament of uterus cancer|cancer of broad ligament of uterus|malignant neoplasm of broad ligament of uterus|malignant broad ligament of uterus neoplasm											DOID:10744|ICD9:183.3|ICD10:C57.1|UMLS:C0346866|SCTID:449259009|COHD:40486213																		owl:Class
MONDO:0006322	biolink:NamedThing	non-neoplastic bile duct disorder	A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.	mondoexuq1wtf	non-neoplastic bile duct disorder											UMLS:C3275160|EFO:1000400|NCIT:C35774																		owl:Class
MONDO:0022986	biolink:NamedThing	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.	mondoexuq1wtf	DIPNECH|DIP-NECH|diffuse idiopathic pulmonary neuroendocrine cell hyperplasia											GARD:0010780|UMLS:C1333291|NCIT:C7437														https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia				owl:Class
MONDO:0042603	biolink:NamedThing	Sanderson-Fraser syndrome		mondoexuq1wtf	proptosis, Robin association, clenched hands, and multiple abnormalities|Sanderson Fraser syndrome											MESH:C537232|GARD:0000153|UMLS:C2931450																		owl:Class
MONDO:0006998	biolink:NamedThing	tonsil cancer	A primary or metastatic malignant neoplasm that affects the tonsil.	mondoexuq1wtf	malignant tumor of the tonsil|malignant tonsil tumor|malignant neoplasm of tonsil, faucial|malignant tonsillar tumor|malignant neoplasm of tonsil|malignant tonsillar neoplasm|cancer of tonsil|malignant neoplasm of the tonsil|malignant tumor of tonsil|malignant neoplasm of palatine tonsil|tonsil cancer|malignant neoplasm of faucial tonsil|malignant tonsil neoplasm											SCTID:363393007|COHD:4181339|NCIT:C7404|UMLS:C0751560|DOID:8858|EFO:1001214|MedDRA:10044002|MESH:D014067|ICD10:C09|ICD9:146.0|ICD10:C09.9																		owl:Class
MONDO:0021250	biolink:NamedThing	tonsil neoplasm	A neoplasm (disease) that involves the tonsil.	mondoexuq1wtf	tumor of tonsil|tonsillar neoplasm|tumor of the tonsil|neoplasm of tonsil|tonsil neoplasm (disease)|neoplasm of the tonsil|tonsil tumor|tonsillar neoplasms|tonsillar tumor											NCIT:C3417|SCTID:127227003																		owl:Class
MONDO:0004900	biolink:NamedThing	peripheral vertigo		mondoexuq1wtf												UMLS:C0155501|ICD10:H81.39|ICD9:386.19|ICD10:H81.3|SCTID:50438001|ICD9:386.10|ICD10:H81.399|DOID:9847|COHD:78162|ICD9:386.1																		owl:Class
MONDO:0002643	biolink:NamedThing	vestibular disease	Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.	mondoexuq1wtf	vestibular system disease|vestibular labyrinth disease|disease of vestibular labyrinth|disease or disorder of vestibular labyrinth|disorder of vestibular system|vestibular labyrinth disease or disorder|disease of vestibular system|vertigo, vestibular disorder|disorder of vestibular labyrinth											ICD10:H81.9|ICD10:H81.90|DOID:3426|UMLS:C0042594|ICD10:H81|MESH:D015837																		owl:Class
MONDO:0011202	biolink:NamedThing	RHYNS syndrome	RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	mondoexuq1wtf	retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|RHYNS syndrome|retinitis pigmentosa syndrome|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome											SCTID:723999009|UMLS:C1865794|Orphanet:140976|MESH:C537612|GARD:0009681|OMIM:602152																		owl:Class
MONDO:0012456	biolink:NamedThing	congenital primary aphakia	Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.	mondoexuq1wtf	CPA|ASGD2|congenital absence of lens|anterior segment dysgenesis 2|aphakia, congenital primary|congenital aphakia											GARD:0009952|OMIM:610256|Orphanet:83461|MESH:C537786|ICD10:Q12.3|NCIT:C35172|DOID:11367|SCTID:35387008|MedDRA:10002947|ICD9:743.35																		owl:Class
MONDO:0020044	biolink:NamedThing	autosomal recessive metabolic cerebellar ataxia		mondoexuq1wtf												UMLS:CN229258|Orphanet:98096																		owl:Class
MONDO:0009556	biolink:NamedThing	malonic aciduria	Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).	mondoexuq1wtf	MCD deficiency|malonic acidemia|Malonicaciduria|malonyl-CoA decarboxylase deficiency											ICD10:E72.8|GARD:0003371|Orphanet:943|UMLS:C0342793|OMIM:248360|SCTID:361203007|MESH:C535702																		owl:Class
MONDO:0017717	biolink:NamedThing	metabolic disease due to other fatty acid oxidation disorder		mondoexuq1wtf												Orphanet:309133|ICD10:E71.3|UMLS:CN203613																		owl:Class
MONDO:0024363	biolink:NamedThing	rapid eye movement sleep disorder		mondoexuq1wtf	repeated rapid eye movement sleep interruptions											SCTID:192004002|ICD9:379.59																		owl:Class
MONDO:0024361	biolink:NamedThing	circadian rhythm sleep disorder	A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)	mondoexuq1wtf	disorders of the sleep-wake schedule|circadian sleep disorder|sleep-wake schedule disorder											ICD10:G47.2|ICD9:327.30|SCTID:3745000|NCIT:C95071																		owl:Class
MONDO:0009925	biolink:NamedThing	autosomal recessive inherited pseudoxanthoma elasticum	An autosomal recessive form of PXE.	mondoexuq1wtf	Gronblad-Strandberg-Touraine syndrome|AR inherited pseudoxanthoma elasticum|pseudoxanthoma elasticum|pseudoxanthoma elasticum, modifier of severity of|PXE|PXE, modifier of severity of|Gronblad-Strandberg syndrome|Gronblad Strandberg syndrome											SCTID:72744008|NCIT:C85036|UMLS:C0033847|SCTID:402782006|MedDRA:10037150|ICD10:Q82.8|DOID:2738|OMIM:264800|MESH:D011561|ICD9:757.39|Orphanet:758														https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum				owl:Class
MONDO:0016340	biolink:NamedThing	familial restrictive cardiomyopathy	An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary restrictive cardiomyopathy											OMIMPS:115210|ICD9:425.4|SCTID:233878008|Orphanet:217635																		owl:Class
MONDO:0012659	biolink:NamedThing	age related macular degeneration 9	Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.	mondoexuq1wtf	age related macular degeneration type 9|macular degeneration, age-related, 9|C3 age-related macular degeneration|age-related macular degeneration caused by mutation in C3|macular Degeneration, age-related, type 9|ARMD9											MESH:C566958|UMLS:C1969651|OMIM:611378|DOID:0110021																		owl:Class
MONDO:0019815	biolink:NamedThing	accessory tricuspid valve tissue	Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	mondoexuq1wtf												ICD10:Q22.8|Orphanet:95462																		owl:Class
MONDO:0008777	biolink:NamedThing	gelatinous drop-like corneal dystrophy	Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.	mondoexuq1wtf	amyloid corneal dystrophy, Japanese type|primary familial amyloidosis of the cornea|corneal dystrophy, lattice type 3|amyloidosis, corneal|amyloidosis corneal|gelatinous drop-like corneal dystrophy|GDCD|subepithelial amyloidosis of the cornea|GDLD|corneal amyloidosis|corneal dystrophy, gelatinous drop-like|lattice corneal dystrophy type 3|CDGDL|Cdgdl|lattice corneal dystrophy, type 3											ICD10:H18.5|OMIM:204870|GARD:0009647|MESH:C535480|UMLS:C0339273|Orphanet:98957|DOID:0060449|NCIT:C142805														https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal				owl:Class
MONDO:0005789	biolink:NamedThing	hepatitis D virus infection	Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	mondoexuq1wtf	Hepatitis D virus|HDV|delta hepatitis|Hepatitis delta virus hepatitis|Hepatitis delta virus caused hepatitis|hepatitis delta|hepatitis type D											DOID:2047|ICD9:070.52|SCTID:707341005|ICD10:B17.0|EFO:0007304|Orphanet:402823|MESH:D003699																		owl:Class
MONDO:0016695	biolink:NamedThing	oligodendroglioma	A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)	mondoexuq1wtf	oligodendroglial tumor|well differentiated oligodendroglioma|well differentiated oligodendroglial tumor|WHO grade II oligodendroglial tumor|WHO grade II oligodendroglial neoplasm|oligodendroglial neoplasm|oligodendroglioma											MedDRA:10030286|DOID:3181|ICD10:C71.9|GARD:0009953|Orphanet:251627|ICDO:9450/3|NCIT:C3288|MESH:D009837|ICD10:C79.1|ONCOTREE:ODG																		owl:Class
MONDO:0001142	biolink:NamedThing	salivary gland disease	A disease involving the saliva-secreting gland.	mondoexuq1wtf	saliva-secreting gland disease or disorder|salivary gland disease|saliva-secreting gland disease|disease of saliva-secreting gland|non-neoplastic salivary gland disease|disease or disorder of saliva-secreting gland|disorder of saliva-secreting gland|salivary gland disorder											NCIT:C26879|EFO:0008581|UMLS:C0036093|MESH:D012466|ICD9:527.8|COHD:25572|ICD9:527.9|DOID:10854|SCTID:10890000																		owl:Class
MONDO:0006858	biolink:NamedThing	mouth disease	A disease involving the mouth.	mondoexuq1wtf	oral disorder|oral disease|disorder of mouth|disease of mouth|mouth disease or disorder|disease or disorder of mouth|mouth disease											NCIT:C3240|EFO:1001047|DOID:403|SCTID:118938008|UMLS:C0026636|MESH:D009059|ICD9:528.9																		owl:Class
MONDO:0002408	biolink:NamedThing	hereditary hyperbilirubinemia	An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.	mondoexuq1wtf	hyperbilirubinaemia|bilirubin metabolic disorder|hereditary hyperbilirubinemia|hyperbilirubinemia											NCIT:C84761|UMLS:C0020435|DOID:2741|OMIMPS:237450|MESH:D006933																		owl:Class
MONDO:0024288	biolink:NamedThing	hyperbilirubinemia	A disease characterized by elevated level of the pigment bilirubin in the blood.	mondoexuq1wtf	bilirubinemia|hyperbilirubinemia					May be acquired or inherited						SCTID:14783006|UMLS:C0020433																		owl:Class
MONDO:0013523	biolink:NamedThing	Nestor-Guillermo progeria syndrome		mondoexuq1wtf	NGPS|Nestor-Guillermo progeria syndrome|progeria syndrome, childhood-onset, with osteolysis|PSCOO											UMLS:C3151446|Orphanet:280576|GARD:0011008|ICD10:E34.8|OMIM:614008														https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome				owl:Class
MONDO:0015363	biolink:NamedThing	autosomal recessive distal hereditary motor neuropathy	Autosomal recessive form of distal hereditary motor neuropathy.	mondoexuq1wtf	distal hereditary motor neuropathy, autosomal recessive|autosomal recessive distal spinal muscular atrophy|autosomal recessive dHMN|autosomal recessive dSMA											UMLS:CN228931|DOID:0111197|Orphanet:140468|ICD10:G12.2																		owl:Class
MONDO:0008538	biolink:NamedThing	temporal arteritis	Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.	mondoexuq1wtf	polymyalgia rheumatica|Horton's giant cell arteritis|Horton’s syndrome|GCA|arteritis temporalis|Horton's arteritis|Horton’s disease|Horton's temporal arteritis|inflammation of temporal artery|temporal arteritis|Horton's disease|arteritis cranialis|cranial arteritis|Horton disease|giant cell arteritis|temporal artery inflammation											ICD9:446.5|MedDRA:10018250|NCIT:C35065|MedDRA:10043207|OMIM:187360|EFO:1001209|SCTID:400130008|UMLS:C1956391|Orphanet:397|DOID:13375|GARD:0009615|ICD10:M31.6																		owl:Class
MONDO:0002341	biolink:NamedThing	granulomatous angiitis	Inflammation of the arteries that is characterized by the presence of granulomas.	mondoexuq1wtf	Granulomatous arteritis											NCIT:C34653|UMLS:C0018202|DOID:2555																		owl:Class
MONDO:0100339	biolink:NamedThing	Friedreich ataxia	An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.	mondoexuq1wtf	FA|Friedreich's ataxia|spinocerebellar ataxia, Friedreich|hereditary spinal sclerosis|Friedreich ataxia|FRDA|hereditary spinal ataxia|Friedreich's tabes|Friedreich ataxia with retained reflexes							http://orcid.org/0000-0001-5208-3432				Orphanet:95|ICD9:334.0|SCTID:10394003|MESH:D005621|MedDRA:10017374|COHD:441554|GARD:0006468|ICD10:G11.1|NCIT:C84718|DOID:12705|UMLS:C0016719														https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia				owl:Class
MONDO:0020046	biolink:NamedThing	autosomal recessive degenerative and progressive cerebellar ataxia		mondoexuq1wtf												UMLS:CN229259|Orphanet:98098																		owl:Class
MONDO:0006595	biolink:NamedThing	perinatal jaundice due to hepatocellular damage	Jaundice in perinates due to cellular damange of liver.	mondoexuq1wtf												EFO:1000750|UMLS:C0158976|ICD9:774.4|COHD:195064|DOID:11452|SCTID:10877007																		owl:Class
MONDO:0006584	biolink:NamedThing	neonatal jaundice	Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.	mondoexuq1wtf	neonatal icterus|neonatal hyperbilirubinemia											UMLS:C0022353|MESH:D007567|DOID:2383|COHD:435656|ICD9:774.5|ICD9:774.6|ICD10:P59.9|SCTID:387712008|EFO:1000739																		owl:Class
MONDO:0003959	biolink:NamedThing	breast large cell neuroendocrine carcinoma	A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.	mondoexuq1wtf	breast large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of breast											NCIT:C40356|UMLS:C1511316|DOID:6657																		owl:Class
MONDO:0002485	biolink:NamedThing	breast neuroendocrine neoplasm	A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.	mondoexuq1wtf	breast neuroendocrine tumor|breast NET|breast neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the breast|neuroendocrine neoplasm of breast|neuroendocrine tumor of the breast|breast neuroendocrine neoplasm|breast endocrine neoplasm											UMLS:C1332635|NCIT:C5169|DOID:3009																		owl:Class
MONDO:0018878	biolink:NamedThing	branchiootic syndrome	Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	mondoexuq1wtf	bo syndrome|bor|branchiootic dysplasia											DOID:0060232|GARD:0010148|SCTID:764810000|Orphanet:52429|UMLS:CN205225|ICD10:Q87.0																		owl:Class
MONDO:0024377	biolink:NamedThing	circadian rhythm sleep disorder, delayed sleep phase type	A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.	mondoexuq1wtf	DSPD|sleepwake schedule disorder, delayed phase|DSPS|sleep-wake schedule disorder, delayed phase|delayed sleep phase syndrome|sleep wake schedule disorder, delayed phase type											DOID:0111141|UMLS:C0393770|SCTID:28011000119104|ICD10:G47.21																		owl:Class
MONDO:0010944	biolink:NamedThing	mitochondrial import-stimulating factor		mondoexuq1wtf	mitochondrial import-stimulating factor|MSF											OMIM:600851																		owl:Class
MONDO:0003726	biolink:NamedThing	apocrine adenosis of breast	Breast adenosis characterized by the presence of extensive apocrine metaplasia.	mondoexuq1wtf	apocrine adenosis of the breast|breast apocrine adenosis|apocrine adenosis of breast											DOID:5999|NCIT:C5198|UMLS:C1332314																		owl:Class
MONDO:0003724	biolink:NamedThing	non-proliferative fibrocystic change of the breast	Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.	mondoexuq1wtf	breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change of breast|non-proliferative fibrocystic change											NCIT:C6943|UMLS:C1332628|DOID:5997																		owl:Class
MONDO:0016523	biolink:NamedThing	bronchogenic cyst	Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.	mondoexuq1wtf	bronchogenic cyst (disease)|bronchogenic cyst		bronchogenic cyst (disease)									HP:0100730|MedDRA:10064585|MESH:D001994|ICD10:J98.4|Orphanet:2357|GARD:0001025																		owl:Class
MONDO:0015221	biolink:NamedThing	non-syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic respiratory or mediastinal malformation|isolated respiratory or mediastinal malformation											Orphanet:108993																		owl:Class
MONDO:0100387	biolink:NamedThing	acute myeloid leukemia, Monosomy 7	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)	mondoexuq1wtf	AML, Monosomy 7					term to be merged with: MONDO:0005223 'acute myeloid leukemia with minimal differentiation'																				https://github.com/monarch-initiative/mondo/issues/3583				owl:Class
MONDO:0018020	biolink:NamedThing	mercury poisoning	Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.	mondoexuq1wtf	Mercury toxicity|mercurialism|Mercury intoxication|hydrargyria											EFO:1001810|GARD:0007021|Orphanet:330021|ICD10:T56.1|SCTID:85180002|ICD9:985.0|MESH:D008630														https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning				owl:Class
MONDO:0020295	biolink:NamedThing	congenital pulmonary veins anomaly	Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.	mondoexuq1wtf	pulmonary vein abnormality|congenital anomaly of pulmonary veins											Orphanet:98729|SCTID:111322000|NCIT:C110942																		owl:Class
MONDO:0014096	biolink:NamedThing	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).	mondoexuq1wtf	WOODS syndrome|Woods-Crouchman-Huson syndrome											ICD10:Q87.8|OMIM:615236|SCTID:719396000|Orphanet:137658|GARD:0003498|UMLS:C0796203														https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome				owl:Class
MONDO:0008703	biolink:NamedThing	acromesomelic dysplasia, Grebe type	Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.	mondoexuq1wtf	chondrodysplasia, GREBE type|GREBE chondrodysplasia|achondrogenesis, Brazilian|Langer-Saldino achondrogenesis|achondrogenesis, type II, formerly|hypochondrogenesis|chondrodysplasia, Grebe type|type II achondrogenesis|achondrogenesis, type II|achondrogenesis type II (formerly)|Brazilian achondrogenesis|Grebe dysplasia|AMDG|Grebe chondrodysplasia|acromesomelic dysplasia, Grebe type|Grebe syndrome											DOID:0080052|OMIM:200700|UMLS:C0265260|GARD:0001300|Orphanet:2098|ICD10:Q78.8|NCIT:C3816																		owl:Class
MONDO:0013053	biolink:NamedThing	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	mondoexuq1wtf	microcephaly-faciocardioskeletal syndrome|Hadziselimovic syndrome											ICD10:Q87.8|Orphanet:217026|OMIM:612946|MESH:C567850|SCTID:719395001|UMLS:C2751878																		owl:Class
MONDO:0019911	biolink:NamedThing	maternal uniparental disomy of chromosome 4	Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	mondoexuq1wtf	UPD(4)mat|maternal uniparental disomy of chromosome type 4											SCTID:766238001|Orphanet:96180|ICD10:Q99.8																		owl:Class
MONDO:0023567	biolink:NamedThing	Kozlowski Brown Hardwick syndrome		mondoexuq1wtf	unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus											GARD:0003136|MESH:C537506|UMLS:C2931511														https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome				owl:Class
MONDO:0016218	biolink:NamedThing	Guillain-Barre syndrome	A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.	mondoexuq1wtf	acute immune-mediated polyneuropathy|GBS|acute postinfectious polyneuropathy|Guillain Barré syndrome|Guillain Barre syndrome|Guillain-Barré syndrome|post-infectious polyneuritis|Guillain-Barre-Strohl syndrome|acute inflammatory neuropathy|acute inflammatory demyelinating polyneuropathy|Landry-Guillain-Barre-Strohl syndrome|Landry's ascending paralysis|post-infective polyneuritis|acute autoimmune peripheral neuropathy|postinfectious polyneuritis|Guillain-Barré-Strohl syndrome											ICD10:G61.0|DOID:12842|NCIT:C116345|GARD:0006554|MESH:D020275|UMLS:C0018378|EFO:0007292|MedDRA:10018767|Orphanet:2103|SCTID:40956001																		owl:Class
MONDO:0019879	biolink:NamedThing	distal trisomy 4q	Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.	mondoexuq1wtf	telomeric duplication 4q|distal duplication 4q|distal trisomy type 4q|trisomy 4qter											ICD10:Q92.3|SCTID:763273008|Orphanet:96096																		owl:Class
MONDO:0000107	biolink:NamedThing	auriculocondylar syndrome	Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.	mondoexuq1wtf	question-mark ear syndrome|question mark ear|question mark ear syndrome|auriculo-condylar syndrome|dysgnathia complex|ears prominent and constricted											GARD:0009798|ICD10:Q75.8|SCTID:702443003|OMIMPS:602483|Orphanet:137888|DC:0000475|MESH:C538270|UMLS:CN160484|UMLS:C1865295																		owl:Class
MONDO:0007500	biolink:NamedThing	ear malformation		mondoexuq1wtf	ear malformation|cup Ear											ICD9:744.29|SCTID:275259005|ICD9:744.3|OMIM:128600																		owl:Class
MONDO:0013784	biolink:NamedThing	lethal neonatal spasticity-epileptic encephalopathy syndrome		mondoexuq1wtf	lethal neonatal rigidity-multifocal seizure syndrome|rigidity and multifocal seizure syndrome, lethal neonatal|RMFSL											Orphanet:435845|EFO:0009144|UMLS:C3281029|ICD10:G40.4|OMIM:614498																		owl:Class
MONDO:0040922	biolink:NamedThing	latent early syphilis		mondoexuq1wtf	latent early syphilis											SCTID:186867005|UMLS:C0275842																		owl:Class
MONDO:0005822	biolink:NamedThing	latent syphilis	A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.	mondoexuq1wtf												ICD10:A53.0|NCIT:C35056|ICD9:097.1|UMLS:C0039133|MESH:D013592|EFO:0007340|DOID:9531|COHD:40485064|SCTID:444150000																		owl:Class
MONDO:0100265	biolink:NamedThing	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0024630	biolink:NamedThing	defective phagocytic cell chemotaxis		mondoexuq1wtf	defective phagocytic cell chemotaxis											UMLS:C0398735|ICD9:279.8|SCTID:234580003																		owl:Class
MONDO:0024627	biolink:NamedThing	phagocytic cell dysfunction		mondoexuq1wtf	phagocytic cell dysfunction|defective phagocytosis											SCTID:302874002|UMLS:C0398732																		owl:Class
MONDO:0019683	biolink:NamedThing	syndactyly type 2	Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.	mondoexuq1wtf	SPD|synpolydactyly											SCTID:715724002|Orphanet:93403|ICD10:Q70.0|ICD10:Q70.2|GARD:0005087																		owl:Class
MONDO:0033199	biolink:NamedThing	deafness, autosomal recessive 107		mondoexuq1wtf	deafness, autosomal recessive 107|autosomal recessive nonsyndromic deafness 107|DFNB107											OMIM:617639|DOID:0080262																		owl:Class
MONDO:0004041	biolink:NamedThing	urothelial papilloma	A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.	mondoexuq1wtf	bladder papilloma|uPA|bladder transitional cell papilloma|urothelial papilloma|transitional cell papilloma of bladder											ICDO:8120/1|DOID:6933|NCIT:C3842|ONCOTREE:UPA																		owl:Class
MONDO:0003443	biolink:NamedThing	papillary urothelial neoplasm	A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003	mondoexuq1wtf	inverted papilloma of urinary tract|urothelium papillary epithelial neoplasm|papillary transitional cell neoplasm of the urinary tract|papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm|urinary tract papillary transitional cell benign neoplasm											DOID:5433|UMLS:C1335329|NCIT:C27883																		owl:Class
MONDO:0017347	biolink:NamedThing	plasmablastic lymphoma	An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.	mondoexuq1wtf	PBL|PLBL|Plasmablastic lymphoma											MESH:D000069293|ICDO:9684/3|ONCOTREE:PLBL|ICD10:C83.3|UMLS:C3472614|NCIT:C7224|GARD:0012125|ICDO:9735/3|MedDRA:10065039|Orphanet:289666|SCTID:724648008														https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma				owl:Class
MONDO:0018905	biolink:NamedThing	diffuse large B-cell lymphoma	Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.	mondoexuq1wtf	DLBCL|diffuse large B-cell lymphoma											MedDRA:10012818|DOID:0050745|ICD10:C83.3|MESH:D016403|NCIT:C8851|EFO:0000403|Orphanet:544|UMLS:C0079744|GARD:0003178|ICD9:200.7|ICDO:9680/3														https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma				owl:Class
MONDO:0012847	biolink:NamedThing	autosomal recessive congenital ichthyosis 6	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.	mondoexuq1wtf	ichthyosis, congenital, autosomal recessive 6|ichthyosis, congenital, autosomal recessive, Nipal4-related|ichthyosis, congenital, autosomal recessive type 6|ARCI6|autosomal recessive congenital ichthyosis type 6											OMIM:612281|ICD10:Q80.2|DOID:0060715|UMLS:C2677065																		owl:Class
MONDO:0017778	biolink:NamedThing	lamellar ichthyosis	Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.	mondoexuq1wtf	classic lamellar ichthyosis|congenital lamellar ichthyosis|LI											ICD10:Q80.2|MedDRA:10023686|Orphanet:313|NCIT:C84805|GARD:0010803																		owl:Class
MONDO:0015567	biolink:NamedThing	cataract-glaucoma syndrome	Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	mondoexuq1wtf	cataract - glaucoma											ICD10:Q12.0|Orphanet:162|UMLS:CN199931|GARD:0001160|SCTID:718851007														https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma				owl:Class
MONDO:0043589	biolink:NamedThing	femoral neck fracture	Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.	mondoexuq1wtf	nof - fracture of neck of femur|femur neck fracture|femoral neck fracture|fracture of neck of femur|bone fracture of neck of femur|fracture of hip|femur neck fractures|neck of femur bone fracture											EFO:1001792|MESH:D005265|SCTID:5913000																		owl:Class
MONDO:0005327	biolink:NamedThing	hip fracture	Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.	mondoexuq1wtf												EFO:0003964|SCTID:263225007|MESH:D006620																		owl:Class
MONDO:0009631	biolink:NamedThing	isolated microphthalmia 1	A microphthalmia that has material basis in variation in the chromosomal region 14q32.	mondoexuq1wtf	microphthalmia, isolated 1|MCOP1|anophthalmia, clinical, isolated|Mcop|microphthalmos, autosomal recessive|isolated microphthalmia type 1											UMLS:C1855052|OMIM:251600|MESH:C565377|ICD10:Q11.0|DOID:0060840																		owl:Class
MONDO:0009082	biolink:NamedThing	high myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.	mondoexuq1wtf	DFNMYP|deafness and myopia|deafness and myopia syndrome											UMLS:CN204687|OMIM:221200|SCTID:720506002|Orphanet:363396|DOID:0111628|ICD10:H90.5|GARD:0012844																		owl:Class
MONDO:0004165	biolink:NamedThing	selective IgD deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.	mondoexuq1wtf	selective immunoglobulin D deficiency|selective IgD immunodeficiency											NCIT:C27144|ICD9:279.03|DOID:7263|UMLS:C0398695|SCTID:234541006																		owl:Class
MONDO:0022413	biolink:NamedThing	Albright-like syndrome		mondoexuq1wtf	Albright like syndrome											GARD:0000596														https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome				owl:Class
MONDO:0005045	biolink:NamedThing	hypertrophic cardiomyopathy	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.	mondoexuq1wtf	HCM - hypertrophic cardiomyopathy|obstructive hypertrophic cardiomyopathy|hypertrophic subaortic stenosis|hypertrophic obstructive cardiomyopathy|hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy											COHD:4124693|MESH:D002312|OMIMPS:192600|SCTID:233873004|DOID:11984|ICD10:I42.1|MedDRA:10020871|KEGG:05410|ICD9:425.11|EFO:0000538|NCIT:C34449|UMLS:C0007194|ICD9:425.4|Orphanet:217569|ICD9:425.1																		owl:Class
MONDO:0000591	biolink:NamedThing	intrinsic cardiomyopathy	A cardiomyopathy that is due to abnormalities in heart muscle cells.	mondoexuq1wtf	primary cardiomyopathy											DOID:0060036																		owl:Class
MONDO:0001708	biolink:NamedThing	pulmonary sarcoidosis	Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.	mondoexuq1wtf	sarcoidosis of lung|lung sarcoidosis											SCTID:24369008|COHD:4086243|MESH:D017565|NCIT:C34997|DOID:13406|ICD10:D86.0|UMLS:C0036205|ICD9:517.8																		owl:Class
MONDO:0017028	biolink:NamedThing	secondary interstitial lung disease specific to adulthood associated with a systemic disease		mondoexuq1wtf	secondary ILD specific to adulthood associated with a systemic disease											UMLS:CN202340|Orphanet:264745																		owl:Class
MONDO:0009567	biolink:NamedThing	Marinesco-Sjogren syndrome	Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.	mondoexuq1wtf	oligophrenic cerebellolenticular degeneration|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|Marinesco-Sjogren syndrome|Marinesco-Garland syndrome|Marinesco-Sjogren-Garland syndrome|MSS|hereditary oligophrenic cerebello-lental degeneration|Marinesco-Sjogren syndrome-myopathy|Garland-Moorhouse syndrome|Marinesco-Sjögren syndrome											OMIM:248800|DOID:0080195|ICD9:742.4|ICD10:G11.1|Orphanet:559|GARD:0008341|SCTID:80734006|UMLS:C0024814																		owl:Class
MONDO:0008467	biolink:NamedThing	Czeizel-Losonci syndrome	Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	split hand urinary anomalies spina bifida|split hand-urinary anomalies-spina bifida syndrome|split hand with obstructive uropathy, spina bifida and diaphragmatic defects|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects											GARD:0004969|OMIM:183802|Orphanet:2437|ICD10:Q87.8|MESH:C566662|UMLS:C1866739																		owl:Class
MONDO:0044789	biolink:NamedThing	digital papillary eccrine carcinoma	An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.	mondoexuq1wtf	digital papillary eccrine carcinoma|digit papillary eccrine carcinoma|digital papillary carcinoma of skin|digital papillary carcinoma|papillary digital eccrine carcinoma|papillary eccrine carcinoma of digit											NCIT:C27534																		owl:Class
MONDO:0016463	biolink:NamedThing	syndromic agammaglobulinemia	A agammaglobulinemia that is part of a larger syndrome.	mondoexuq1wtf	syndromic agammaglobulinemia|syndromic hypogammaglobulinemia|syndrome associated with agammaglobulinemia|hypogammaglobulinemia											NCIT:C26931|UMLS:CN226939|Orphanet:229720																		owl:Class
MONDO:0014269	biolink:NamedThing	combined oxidative phosphorylation deficiency 19	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.	mondoexuq1wtf	COXPD19|LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|combined oxidative phosphorylation deficiency type 19|combined oxidative phosphorylation deficiency 19											DOID:0111476|UMLS:C3810055|OMIM:615595																		owl:Class
MONDO:0018337	biolink:NamedThing	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency		mondoexuq1wtf												ICD10:E88.8|Orphanet:397593																		owl:Class
MONDO:0012050	biolink:NamedThing	major depressive disorder 1		mondoexuq1wtf	unipolar depression 1|major depressive disorder type 1|major depressive disorder 1|MDD1											MESH:C563919|UMLS:C1837929|OMIM:608520																		owl:Class
MONDO:0011884	biolink:NamedThing	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	mondoexuq1wtf	hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|HOPP syndrome|Hopp syndrome|hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome											Orphanet:307936|UMLS:C1843285|SCTID:763658004|ICD10:Q82.8|MESH:C564357|OMIM:607658																		owl:Class
MONDO:0011606	biolink:NamedThing	baby rattle pelvis dysplasia		mondoexuq1wtf	baby rattle pelvic dysplasia|baby rattle pelvis dysplasia											OMIM:605838|UMLS:C1853911|MESH:C537794|GARD:0009289|MESH:C565282														https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia				owl:Class
MONDO:0024571	biolink:NamedThing	AIDS-related disorder	A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.	mondoexuq1wtf	AIDS-related complications|disease associated with AIDS|AIDS-related disorder|AIDS/HIV - relatedDisease associated with AIDS											UMLS:C0877121|NCIT:C4991																		owl:Class
MONDO:0024572	biolink:NamedThing	immunodeficiency-related disorder	A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.	mondoexuq1wtf	Immunosuppression disorders|immunodeficiency-related disorder|Immunosuppression-related disorder|Immunodepression-related disorder											UMLS:C1334159|NCIT:C35686																		owl:Class
MONDO:0024463	biolink:NamedThing	ovarian dysgenesis 1		mondoexuq1wtf	ODG1|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ovarian dysgenesis, hypergonadotropic, autosomal recessive|XXGD|gonadal dysgenesis, 20 type|ovarian failure, hypergonadotropic|XX gonadal dysgenesis|gonadal dysgenesis, XX type|ovarian dysgenesis 1											DOID:0080493|OMIM:233300																		owl:Class
MONDO:0004510	biolink:NamedThing	inflammatory liposarcoma	A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.	mondoexuq1wtf	inflammatory liposarcoma											NCIT:C6508|DOID:8233|UMLS:C1370890																		owl:Class
MONDO:0022893	biolink:NamedThing	craniosynostosis arthrogryposis cleft palate		mondoexuq1wtf												GARD:0001587														https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate				owl:Class
MONDO:0003812	biolink:NamedThing	ovarian endometrial cancer	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	mondoexuq1wtf	endometrioid tumor of ovary|ovarian endometrioid neoplasm|ovary endometrioid tumor|endometrioid neoplasm of ovary|malignant ovarian endometrioid tumor|ovary female reproductive endometrioid cancer											NCIT:C40051|UMLS:C1518231|DOID:6212																		owl:Class
MONDO:0007382	biolink:NamedThing	Ramos-Arroyo syndrome	Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.	mondoexuq1wtf	corneal anesthesia-deafness-intellectual disability syndrome|Ramos-Arroyo syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability											Orphanet:1051|GARD:0004636|MESH:C535286|ICD10:Q87.8|UMLS:C2930866|OMIM:122430																		owl:Class
MONDO:0004046	biolink:NamedThing	childhood brain meningioma	A brain meningioma that occurs during childhood.	mondoexuq1wtf	brain pediatric meningioma|pediatric meningioma of the brain|childhood meningioma of brain|pediatric meningioma of brain|childhood meningioma of the brain|pediatric brain meningioma|Brain meningioma											UMLS:C1332949|DOID:6939|NCIT:C6253																		owl:Class
MONDO:0003057	biolink:NamedThing	pediatric meningioma	A meningioma that occurs during childhood.	mondoexuq1wtf	childhood meningioma (disease)|pediatric meningioma (disease)|meningioma (disease) of childhood|pediatric meningioma|childhood meningioma|meningioma											UMLS:C0280656|NCIT:C8264|DOID:4593																		owl:Class
MONDO:0000839	biolink:NamedThing	congenital abnormality	Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.	mondoexuq1wtf	congenital anomalies of fetus|fetal developmental abnormality|congenital abnormality|congenital defect/deformity|congenital anomaly|CM - congenital malformation|physical disorder|defect/deformity, Congenital|congenital deformity|congenital malformation|congenital anatomic Abnormality|congenital Abnormality|birth defect|congenital anomaly or birth defect|deformity/defect, Congenital|congenital anatomical Abnormality|foetal malformation|fetal malformation|congenital defect|defect/deformity, congenital|SCONG											SCTID:276654001|ICD9:759.9|DOID:0080015|ICD9:759.89|MESH:D000013|ICD10:Q00.Q99|UMLS:CN232116|EFO:0003915|NCIT:C2849																		owl:Class
MONDO:0021273	biolink:NamedThing	leiomyoma of ciliary body	A leiomyoma that involves the ciliary body.	mondoexuq1wtf	ciliary body leiomyoma|leiomyoma of the ciliary body											NCIT:C4560|UMLS:C0346386|SCTID:255020006|ICD9:224.0																		owl:Class
MONDO:0000138	biolink:NamedThing	metaphyseal chondrodysplasia		mondoexuq1wtf	metaphyseal chondrodysplasia (disease)|metaphyseal chondrodysplasia		metaphyseal chondrodysplasia (disease)									HP:0005871|DC:0000558|SCTID:28681006																		owl:Class
MONDO:0009943	biolink:NamedThing	Pyle disease	Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.	mondoexuq1wtf	metaphyseal dysplasia Pyle type|Pyle's syndrome|Pyle-Cohn syndrome|Bakwin-Krida syndrome|chondrodysplasia calcificans metaphysealis|Pyl|metaphyseal dysplasia|Pyle's disease|metaphyseal dysplasia, Pyle type|Pyle disease											ICD10:Q78.5|OMIM:265900|ICD9:758.5|MESH:C536252|DOID:0080019|SCTID:27837003|GARD:0004612|Orphanet:3005																		owl:Class
MONDO:0011892	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 9	Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.	mondoexuq1wtf	epilepsy, juvenile myoclonic, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 9|generalised epilepsy caused by mutation in CACNB4|CACNB4 generalised epilepsy|susceptibility to idiopathic generalized epilepsy 9|EIG9|epilepsy, idiopathic generalized, susceptibility to, type 9											DOID:0111323|OMIM:607682																		owl:Class
MONDO:0032667	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 5		mondoexuq1wtf	EV5|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5											OMIM:618309																		owl:Class
MONDO:0008490	biolink:NamedThing	otospondylomegaepiphyseal dysplasia, autosomal dominant	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	mondoexuq1wtf	Pierre Robin syndrome with fetal chondrodysplasia|Stickler syndrome, non-ocular type|COL11A2 Stickler syndrome|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Stickler syndrome, type III, formerly|Pierre Robin malformation|Weissenbacher- Zweymuller syndrome|Piere-Robin syndrome|STICKLER syndrome, type III|Weissenbacher-Zweymuller syndrome|Stickler syndrome, Nonocular type|OSMED, heterozygous|Stickler syndrome, type 3|Stickler syndrome nonocular type|Pierre Robin sequence-fetal chondrodysplasia syndrome|OSMEDA|Weissenbacher-Zweymüller syndrome|Pierre Robin syndrome-fetal chondrodysplasia syndrome|otospondylomegaepiphyseal dysplasia, autosomal dominant|heterozygous OSMED|heterozygous otospondylomegaepiphyseal dysplasia|WZS|STL3|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|Stickler syndrome caused by mutation in COL11A2											OMIM:184840|ICD10:Q77.7|SCTID:699313003|ICD10:Q87.5|DOID:4258|GARD:0004351|Orphanet:3450|MESH:C535776|GARD:0005021|Orphanet:166100|OMIM:277610|MESH:C537494																		owl:Class
MONDO:0018087	biolink:NamedThing	viral hemorrhagic fever	A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.	mondoexuq1wtf	viral haemorrhagic fever|hemorrhagic fevers|VHF|haemorrhagic fevers, viral|VHFs|hemorrhagic fever|haemorrhagic fever											NCIT:C36170|GARD:0005494|SCTID:240523007|UMLS:C0019104|UMLS:CN204409|COHD:4347554|MESH:D006482|Orphanet:341														https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever				owl:Class
MONDO:0600002	biolink:NamedThing	hemorrhagic fever	An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.	mondoexuq1wtf	haemorrhagic fever							http://orcid.org/0000-0002-5460-8025				NCIT:C36169																		owl:Class
MONDO:0024378	biolink:NamedThing	circadian rhythm sleep disorder, advanced sleep phase type	A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.	mondoexuq1wtf	advanced sleep phase syndrome|ASPS|circadian rhythm sleep disorder, advanced sleep phase|sleep-wake schedule disorder, advanced phase type|circadian rhythm sleep disorder, advanced sleep phase type											ICD9:327.32|SCTID:31537005|ICD10:G47.22																		owl:Class
MONDO:0014170	biolink:NamedThing	complex cortical dysplasia with other brain malformations 3	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.	mondoexuq1wtf	cortical dysplasia, Complex, with Other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|CDCBM3|complex cortical dysplasia with other brain malformations type 3|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 3											UMLS:C3809414|DOID:0090134|OMIM:615411																		owl:Class
MONDO:0007880	biolink:NamedThing	congenital laryngeal web	Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	mondoexuq1wtf	laryngeal web, familial|glottic web, congenital anterior|subglottic web|gay Feinmesser Cohen syndrome|Laryngeal web|subglottic Bar|subglottic bar, congenital heart disease and low stature|laryngeal web, congenital heart disease and low stature											Orphanet:2374|MedDRA:10023871|ICD10:Q31.0|GARD:0002446|OMIM:150360|SCTID:444921008|MESH:C537676|MESH:C563636|NCIT:C98970														https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome				owl:Class
MONDO:0008310	biolink:NamedThing	Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).	mondoexuq1wtf	Hutchinson Gilford syndrome|progeria|Hutchinson Gilford progeria syndrome|Hutchinson-Gilford progeria syndrome|Hutchinson-Gilford disease|premature senility syndrome|HGPS|progeria syndrome, childhood-onset					Editor note: check wether subset prototype_pattern is appropriate						MedDRA:10036794|Orphanet:740|ICD10:E34.8|SCTID:238870004|ICD9:259.8|NCIT:C34951|UMLS:CN236401|GARD:0007467|OMIM:176670|UMLS:C0033300|MESH:D011371|DOID:3911														https://rarediseases.info.nih.gov/diseases/7467/progeria				owl:Class
MONDO:0020732	biolink:NamedThing	progeria		mondoexuq1wtf												OMIMPS:176670																		owl:Class
MONDO:0020750	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		mondoexuq1wtf												OMIM:618193																		owl:Class
MONDO:0007202	biolink:NamedThing	blepharoptosis-myopia-ectopia lentis syndrome	This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.	mondoexuq1wtf	blepharoptosis, myopia, and ectopia lentis|dominantly inherited blepharoptosis, high myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis											UMLS:C1862259|Orphanet:1259|GARD:0000912|MESH:C536236|OMIM:110150|SCTID:717915004|ICD10:Q15.8																		owl:Class
MONDO:0012077	biolink:NamedThing	amyotrophic lateral sclerosis type 8	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.	mondoexuq1wtf	VAPB amyotrophic lateral sclerosis|ALS8|amyotrophic lateral sclerosis 8|amyotrophic lateral sclerosis type 8|amyotrophic lateral sclerosis caused by mutation in VAPB											DOID:0050752|GARD:0010499|MESH:C563895|OMIM:608627														https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8				owl:Class
MONDO:0006264	biolink:NamedThing	laryngeal adenoid cystic carcinoma	A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.	mondoexuq1wtf	laryngeal adenoid cystic carcinoma|adenoid cystic carcinoma of the larynx|adenoid cystic carcinoma of larynx|laryngeal throat adenoid cystic cancer											NCIT:C9462|EFO:1000319|UMLS:C1334368|DOID:4869																		owl:Class
MONDO:0002358	biolink:NamedThing	laryngeal carcinoma	Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.	mondoexuq1wtf	laryngeal throat cancer|carcinoma of the larynx|carcinoma of larynx|cancer of larynx|laryngeal carcinoma|cancer of the larynx|laryngeal cancer|larynx carcinoma											SCTID:276975007|NCIT:C4855|UMLS:C0595989|GARD:0006862|DOID:2600																		owl:Class
MONDO:0008058	biolink:NamedThing	cylindrical spirals myopathy	Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	mondoexuq1wtf	myotonic myopathy with cylindrical spirals											Orphanet:171886|ICD10:G71.2|GARD:0011906|MESH:C563535|SCTID:764525006|OMIM:160990|UMLS:C1834418|DOID:0080103														https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy				owl:Class
MONDO:0007097	biolink:NamedThing	Finnish type amyloidosis		mondoexuq1wtf	hereditary gelsolin amyloidosis|amyloidosis, MERETOJA type|familial amyloid polyneuropathy type IV|gelsolin amyloidosis|amyloidosis, Finnish type|amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis due to mutant gelsolin|meretoja type amyloidosis|cerebral amyloid angiopathy, Gsn-related|amyloidosis V|corneal dystrophy, lattice type 2|meretoja syndrome|familial amyloidosis, Finnish type|lattice corneal dystrophy, type 2|lattice corneal dystrophy type II Finnish|hereditary amyloidosis, Finnish type|AGel amyloidosis|amyloidosis 5|amyloidosis, Meretoja type											Orphanet:85448|MESH:C537459|ICD9:277.39|GARD:0002339|ICD10:E85.1|DOID:0050637|SCTID:419398009|OMIM:105120																		owl:Class
MONDO:0017419	biolink:NamedThing	non-syndromic amelia	A congenital malformation characterized by the complete absence of all limbs.	mondoexuq1wtf	nonsyndromic amelia|amelia|isolated amelia											MedDRA:10001926|ICD10:Q73.0|SCTID:62588002|NCIT:C34370|HP:0009827|Orphanet:294925																		owl:Class
MONDO:0019423	biolink:NamedThing	X-linked intellectual disability, Stoll type	X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.	mondoexuq1wtf												UMLS:CN206179|ICD10:Q87.8|SCTID:718911005|Orphanet:85326																		owl:Class
MONDO:0014101	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.	mondoexuq1wtf	MDDGA12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12|Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|POMK muscular dystrophy-dystroglycanopathy, type A											OMIM:615249|DOID:0111235|UMLS:C3808964																		owl:Class
MONDO:0032908	biolink:NamedThing	CEBALID syndrome		mondoexuq1wtf	CEBALID SYNDROME|MN1 C-terminal truncation syndrome|CEBALID|MCTT|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development											OMIM:618774																		owl:Class
MONDO:0006742	biolink:NamedThing	endemic goiter	Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.	mondoexuq1wtf	iodine-deficiency-related endemic goitre|simple goitre|simple goiter											ICD10:E01.2|EFO:1000916|NCIT:C35023|MESH:D006043|SCTID:56805008|ICD9:240.0|DOID:13198|MedDRA:10068848|ICD10:E01.0																		owl:Class
MONDO:0005397	biolink:NamedThing	goiter	Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	mondoexuq1wtf	goiter|Thyromegaly|goiter (disease)|goitre		goiter (disease)									HP:0000853|COHD:135772|ICD10:E04.9|DOID:12176|ICD9:240.9|MESH:D006042|SCTID:3716002|NCIT:C26785|EFO:0004283																		owl:Class
MONDO:0017802	biolink:NamedThing	ovarian fibrothecoma	Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).	mondoexuq1wtf												ICD10:D27|UMLS:CN203762|Orphanet:314478|SCTID:765190005																		owl:Class
MONDO:0001460	biolink:NamedThing	dyshormonogenic goiter		mondoexuq1wtf												COHD:136933|ICD10:E07.1|ICD9:246.1|SCTID:190304001|UMLS:C0152077|DOID:12175																		owl:Class
MONDO:0008611	biolink:NamedThing	humerus trochlea aplasia	Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	mondoexuq1wtf	trochlea of the HUMERUS, aplasia OF|aplasia of trochlea of the humerus|trochlea of the humerus aplasia of											Orphanet:3383|UMLS:C1860773|GARD:0002750|MESH:C566022|ICD10:Q74.0|SCTID:732928005|OMIM:191000														https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of				owl:Class
MONDO:0008683	biolink:NamedThing	Wilms tumor 3		mondoexuq1wtf	Wilms tumor 3|WT3											OMIM:194090|UMLS:C1860265|MESH:C565991																		owl:Class
MONDO:0042494	biolink:NamedThing	childhood malignant melanoma	A melanoma that occurs during childhood.	mondoexuq1wtf	pediatric melanoma (disease)|melanoma (disease) of childhood|childhood melanoma|childhood melanoma (disease)|malignant melanoma, childhood											NCIT:C131506|GARD:0000091|UMLS:C4329660																		owl:Class
MONDO:0008267	biolink:NamedThing	orofaciodigital syndrome V	Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	mondoexuq1wtf	Thurston syndrome|Ofds 5|oral-Facial-digital syndrome, type 5|oral facial digital syndrome 5|oral-facial-digital syndrome type 5|OFD syndrome 5|polydactyly postaxial with median cleft of upper lip|OFD5|orofaciodigital syndrome type 5|orofaciodigital syndrome Thurston type|orofaciodigital syndrome V|orofaciodigital syndrome 5|polydactyly, postaxial, with median cleft of upper lip|polydactyly, postaxial, with Median cleft of upper lip|orofaciodigital syndrome, Thurston type|orofaciodigital syndrome type V|oral facial digital syndrome type 5|oral-facial-digital syndrome 5											SCTID:722105002|ICD10:Q87.0|Orphanet:2919|DOID:0060375|GARD:0004120|OMIM:174300|UMLS:C1868118|MESH:C557819														https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5				owl:Class
MONDO:0013828	biolink:NamedThing	hyperekplexia 2	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.	mondoexuq1wtf	hyperekplexia 2|hyperekplexia type 2|HKPX2|GLRB hereditary hyperekplexia|hereditary hyperekplexia caused by mutation in GLRB											ICD10:G25.8|DOID:0060697|OMIM:614619|UMLS:C3553291																		owl:Class
MONDO:0021022	biolink:NamedThing	hereditary hyperekplexia	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	mondoexuq1wtf	startle disease|Kok disease|congenital stiff man syndrome|hyperexplexia hereditary|hereditary hyperekplexia|familial startle disease|Stiff baby syndrome|hyperekplexia|hereditary hyperexplexia											Orphanet:3197|DOID:0060695|ICD10:G25.8|GARD:0003129|OMIMPS:149400|SCTID:724351008																		owl:Class
MONDO:0006374	biolink:NamedThing	placental choriocarcinoma	Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.	mondoexuq1wtf	placental choriocarcinoma|choriocarcinoma of the placenta|placenta choriocarcinoma|placenta choriocarcinoma (disease)|choriocarcinoma of placenta											SCTID:448401007|EFO:1000479|DOID:2024|UMLS:C0855173|NCIT:C8893																		owl:Class
MONDO:0002178	biolink:NamedThing	placenta cancer	A malignant neoplasm involving the placenta.	mondoexuq1wtf	malignant tumor of placenta|malignant placenta tumor|malignant neoplasm of placenta|deciduoma, malignant|malignant neoplasm of the placenta|placental tumors|placental cancer|malignant placental neoplasm|malignant tumor of the placenta|malignant placenta neoplasm|malignant placental tumor|placenta cancer|cancer of placenta|primary malignant neoplasm of placenta											ICD9:181|SCTID:126920004|ICD9:239.5|NCIT:C3555|UMLS:C0153572|ICD10:C58|DOID:2021																		owl:Class
MONDO:0019191	biolink:NamedThing	IgG4-related dacryoadenitis and sialadenitis	IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.	mondoexuq1wtf	Mikulicz's disease (former)|Mikulicz's disease|Mikulicz disease|Mikulicz disease (former)|Mikulicz syndrome (former)|chronic dacryoadenitis and sialadenitis											UMLS:C0026103|NCIT:C34819|DOID:12900|MedDRA:10052317|ICD10:K11.8|SCTID:7826003|MedDRA:10051457|Orphanet:79078|GARD:0007043|MESH:D008882														https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis				owl:Class
MONDO:0000690	biolink:NamedThing	body dysmorphic disorder	Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.	mondoexuq1wtf	body dysmorphia|dysmorphic syndrome|dysmorphophobia											SCTID:83482000|MESH:D057215|ICD10:F45.22|DOID:0060163																		owl:Class
MONDO:0003117	biolink:NamedThing	somatoform disorder	A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.	mondoexuq1wtf	psychosomatic disorder|physiological malfunction arising from mental factor|psychophysiologic disorder|somatoform disorder											ICD9:306.8|ICD9:300.8|COHD:435784|SCTID:31297008|ICD10:F45.0|DOID:4737|NCIT:C34956|ICD10:F45|ICD10:F45.9|ICD9:300.81|MESH:D013001																		owl:Class
MONDO:0010013	biolink:NamedThing	schneckenbecken dysplasia	Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.	mondoexuq1wtf	schneckenbecken dysplasia|chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia with snail-like pelvis|chondrodysplasia lethal neonatal with snail like pelvis|SHNKND|SLC35D1-CDG											SCTID:254049009|UMLS:C0432194|DOID:0050775|Orphanet:3144|GARD:0000169|ICD10:Q77.7|OMIM:269250|ICD9:756.9|MESH:C536637														https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia				owl:Class
MONDO:0018385	biolink:NamedThing	osteochondrosis of genetic origin	An instance of osteochondrosis that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic osteochondrosis											ICD10:M93.9|Orphanet:399391																		owl:Class
MONDO:0018381	biolink:NamedThing	osteochondrosis	A condition that is characterized by defective bone growth that affects the growth centers of bone.	mondoexuq1wtf	osteochondritis juvenilis|epiphyseal necrosis|apophysitis|epiphysitis|osteochondrosis not specified as adult or juvenile, of unspecified site|osteochondritis											UMLS:C0029429|ICD10:M92|ICD10:M93.9|SCTID:19579005|EFO:0008575|ICD10:M42|DOID:8125|GARD:0012704|Orphanet:399319|NCIT:C34879|MESH:D055034|ICD9:732.6														https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis				owl:Class
MONDO:0018686	biolink:NamedThing	acquired Creutzfeldt-Jakob disease	An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	sporadic CJD|acquired Creutzfeldt Jacob disease|acquired CJD										MONDO:0025169	ICD10:A81.0|MESH:C538481|Orphanet:454700|UMLS:CN237752																		owl:Class
MONDO:0005357	biolink:NamedThing	Creutzfeldt Jacob disease	A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.	mondoexuq1wtf	Creutzfeldt-Jacob disease|CJD|transmissible virus dementia|classic Creutzfeldt-Jakob disease|CJD (Creutzfeldt Jakob disease)|Creutzfeldt Jacob syndrome|Subacute spongiform encephalopathy|Creutzfeldt Jakob disease|Creutzfeldt-Jakob disease|Jakob-Creutzfeldt disease											ICD9:046.1|DOID:11949|EFO:0004226|ICD9:046.19|NCIT:C26802|ICD10:A81.0|GARD:0006956|MESH:D007562|ICD10:A81.00|SCTID:792004|COHD:372241																		owl:Class
MONDO:0006150	biolink:NamedThing	colon Burkitt lymphoma	A rare Burkitt lymphoma that arises from the colon.	mondoexuq1wtf	colon Burkitts lymphoma|colon Burkitt's lymphoma|Burkitt lymphoma of colon|colon Burkitt lymphoma|primary colon Burkitt's lymphoma|Burkitts lymphoma of colon											EFO:1000182|NCIT:C27465|UMLS:C1333083																		owl:Class
MONDO:0023113	biolink:NamedThing	familial colorectal cancer	Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.	mondoexuq1wtf	colorectal cancer, familial|hereditary colorectal cancer											GARD:0008533|UMLS:CN029768														https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer				owl:Class
MONDO:0001882	biolink:NamedThing	bacteriuria	The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.	mondoexuq1wtf	bacteriuria (disease)|bacteriuria		bacteriuria (disease)									MedDRA:10004056|CSP:3045-9976|UMLS:C0004659|HP:0012461|DOID:1412|MESH:D001437																		owl:Class
MONDO:0012437	biolink:NamedThing	cataract 21 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.	mondoexuq1wtf	cataract, congenital, cerulean type, 4|cataract 21, multiple types|cataract, pulverulent, juvenile-onset|early-onset non-syndromic cataract caused by mutation in MAF|CCA4|congenital cataract cerulean type 4|cataract 21 multiple types with or without microcornea|cataract 21, multiple types, with or without microcornea|MAF early-onset non-syndromic cataract|CTRCT21											DOID:0110256|MESH:C565703|ICD10:Q12.0|OMIM:610202																		owl:Class
MONDO:0013711	biolink:NamedThing	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		mondoexuq1wtf	peripheral neuropathy-myopathy-hoarseness-deafness syndrome|peripheral neuropathy, myopathy, hoarseness, and hearing loss|PNMHH											UMLS:C3280556|Orphanet:397744|ICD10:G60.0|OMIM:614369																		owl:Class
MONDO:0023699	biolink:NamedThing	Maroteaux Fonfria syndrome		mondoexuq1wtf	apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet											MESH:C536023|GARD:0003397|UMLS:C2931088														https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome				owl:Class
MONDO:0007041	biolink:NamedThing	apert syndrome	Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.	mondoexuq1wtf	apert-Crouzon disease|acrocephalosyndactyly, type 1|ACS1|apert syndrome|acrocephalosyndactyly type I|syndactylic oxycephaly|acrocephalosyndactyly type 1|ACS 2|type I Acrocephalosyndactyly|ACS 1|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 2|Vogt Cephalodactyly											MESH:D000168|NCIT:C99099|UMLS:C0001193|GARD:0005833|OMIM:101200|SCTID:205258009|Orphanet:87|MedDRA:10002943|ICD10:Q87.0																		owl:Class
MONDO:0006899	biolink:NamedThing	pericoronitis	Inflammation of the gingiva surrounding the crown of a tooth.	mondoexuq1wtf												SCTID:22240003|DOID:3671|MESH:D010497|EFO:1001098|MedDRA:10034504|UMLS:C0031055																		owl:Class
MONDO:0005076	biolink:NamedThing	periodontitis	An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.	mondoexuq1wtf	inflammation of periodontium|chronic pericementitis|periodontosis|periodontium inflammation										MONDO:0004915	DOID:824|SCTID:41565005|EFO:0000649|MESH:D010518|UMLS:C0600298|UMLS:C0031099|ICD10:K05.4|ICD9:523.5|NCIT:C34918|ICD10:K05.3|DOID:9893|COHD:141608																		owl:Class
MONDO:0002481	biolink:NamedThing	ovarian neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	mondoexuq1wtf	neuroendocrine neoplasm of ovary|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|ovarian neuroendocrine neoplasm|neuroendocrine neoplasm of the ovary|ovary neuroendocrine neoplasm|ovary neuroendocrine tumor|ovary NET|neuroendocrine tumor of ovary											DOID:3002|UMLS:C1335172|NCIT:C5237																		owl:Class
MONDO:0007983	biolink:NamedThing	Schmid metaphyseal chondrodysplasia	Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.	mondoexuq1wtf	metaphyseal chondrodysplasia Schmid type|MCDS|Schmid type metaphyseal dysplasia|Japanese type spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, Japanese type|metaphyseal chondrodysplasia, Schmid type											MESH:C537352|DOID:0080021|SCTID:29248006|Orphanet:174|GARD:0007029|OMIM:156500|ICD10:Q78.5																		owl:Class
MONDO:0000471	biolink:NamedThing	tricuspid valve disease	A disease involving the tricuspid valve.	mondoexuq1wtf	tricuspid disease|tricuspid valve disorder|disease or disorder of tricuspid valve|disease of tricuspid valve|RH. tricuspid valve disease|disorder of tricuspid valve|rheumatic disease of tricuspid valve|rheumatic tricuspid valve disease|tricuspid valve disease or disorder|tricuspid valve disease											SCTID:20721001|ICD9:397.0|ICD10:I07.9|NCIT:C78649|UMLS:C0264882|ICD10:I07|DOID:0050826|UMLS:C0264776																		owl:Class
MONDO:0020663	biolink:NamedThing	malignant spindle cell neoplasm	A malignant neoplasm characterized by the presence of atypical spindle cells.	mondoexuq1wtf	malignant spindle cell tumor|malignant spindle cell neoplasm|spindle cell cancer											NCIT:C27091																		owl:Class
MONDO:0004345	biolink:NamedThing	childhood malignant schwannoma	A malignant peripheral nerve sheath tumor occurring in children.	mondoexuq1wtf	pediatric malignant schwannoma|pediatric malignant peripheral nerve sheath tumor|childhood malignant neoplasm of the peripheral nerve sheath|childhood malignant neurilemmoma|pediatric malignant neoplasm of the peripheral nerve sheath|childhood malignant neoplasm of peripheral nerve sheath|pediatric malignant neurilemmoma|pediatric malignant tumor of peripheral nerve sheath|malignant peripheral nerve sheath tumor|pediatric MPNST|childhood malignant peripheral nerve sheath neoplasm|childhood MPNST|pediatric malignant neoplasm of peripheral nerve sheath|childhood malignant peripheral nerve sheath tumor|childhood neurogenic sarcoma|pediatric malignant tumor of the peripheral nerve sheath|childhood neurofibrosarcoma|childhood malignant schwannoma|childhood malignant tumor of the peripheral nerve sheath|childhood malignant tumor of peripheral nerve sheath|pediatric malignant peripheral nerve sheath neoplasm											DOID:7732|UMLS:C0279987|NCIT:C8094																		owl:Class
MONDO:0018182	biolink:NamedThing	bullous impetigo	Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.	mondoexuq1wtf												UMLS:C0021100|ICD10:L01.03|MedDRA:10006563|SCTID:399183005|ICD10:L01.0|Orphanet:36237																		owl:Class
MONDO:0024295	biolink:NamedThing	skin disease caused by bacterial infection	Skin diseases caused by bacteria.	mondoexuq1wtf	bacterial skin diseases|bacterial skin disease|Bacteria caused skin disease caused by infection|Bacteria skin disease caused by infection|disease, bacterial skin|diseases, bacterial skin|skin disease, bacterial											MESH:D017192																		owl:Class
MONDO:0013600	biolink:NamedThing	insomnia	A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.	mondoexuq1wtf	DSPS|delayed sleep phase syndrome, susceptibility to|delayed sleep phase disorder, susceptibility to|DSPD|insomnia (disease)|insomnia		insomnia (disease)									ICD9:780.52|MESH:D007319|HP:0100785|SCTID:193462001|ICD10:G47.0|EFO:0004698|NCIT:C28286																		owl:Class
MONDO:0022655	biolink:NamedThing	cardiomyopathy hypogonadism metabolic anomalies		mondoexuq1wtf												GARD:0001109														https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies				owl:Class
MONDO:0002029	biolink:NamedThing	chronic gonorrhea of cervix	Chronic form of gonococcal cervicitis.	mondoexuq1wtf	chronic gonococcal cervicitis|gonococcal cervicitis, chronic											DOID:1512|SCTID:76802005|ICD9:098.35|UMLS:C0153206																		owl:Class
MONDO:0021157	biolink:NamedThing	gonococcal cervicitis		mondoexuq1wtf	gonorrhea of uterine cervix|gonorrhea of cervix											SCTID:237083000|UMLS:C0812378																		owl:Class
MONDO:0001898	biolink:NamedThing	optic choroid disease	A disease involving the optic choroid.	mondoexuq1wtf	disorder of optic choroid|disease of optic choroid|choroid disorder|choroid disease|disease or disorder of optic choroid|optic choroid disease or disorder|optic choroid disease											ICD10:H31.9|NCIT:C34468|ICD9:363.9|DOID:1417|SCTID:128468007|ICD9:363.8|UMLS:C0008521|MESH:D015862																		owl:Class
MONDO:0006830	biolink:NamedThing	leukoplakia of penis	A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.	mondoexuq1wtf	kraurosis of penis|penile leukoplakia|kraurosis penis|leukoplakia of the penis											UMLS:C0022782|ICD10:N48.0|COHD:195009|MedDRA:10024394|ICD9:607.0|DOID:8738|NCIT:C3151|EFO:1001015|SCTID:3323003																		owl:Class
MONDO:0043243	biolink:NamedThing	leukoplakia	A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	mondoexuq1wtf	leukoplakic lesion|leukokeratoses|keratotic plaque|leukoplakia|lesions, leukoplakic|leukokeratosis|leukoplakias|leukoplakic lesions|lesion, leukoplakic											NCIT:C3186|UMLS:C0023531|MESH:D007971|SCTID:274134003|GARD:0006897																		owl:Class
MONDO:0011396	biolink:NamedThing	keratoderma hereditarium mutilans with ichthyosis	Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.	mondoexuq1wtf	Vohwinkel syndrome, variant form|Camisa disease|mutilating keratoderma with ichthyosis|Loricrin keratoderma|keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Vohwinkel syndrome with ichthyosis											SCTID:717183001|Orphanet:79395|OMIM:604117|UMLS:C1858805|MESH:C565826|ICD10:Q82.8																		owl:Class
MONDO:0017667	biolink:NamedThing	isolated diffuse palmoplantar keratoderma	A diffuse palmoplantar keratoderma that is not part of a larger syndrome.	mondoexuq1wtf	isolated diffuse PPK|isolated diffuse palmoplantar hyperkeratosis|nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse keratosis palmoplantaris											ICD10:Q82.8|Orphanet:307148																		owl:Class
MONDO:0018141	biolink:NamedThing	pyruvate carboxylase deficiency, infantile form	Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.	mondoexuq1wtf	pyruvate carboxylase deficiency type A|pyruvate carboxylase deficiency, infantile type											UMLS:CN204538|ICD10:E74.4|Orphanet:353308																		owl:Class
MONDO:0005214	biolink:NamedThing	vulva sarcoma	A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.	mondoexuq1wtf	mammalian vulva sarcoma|sarcoma of mammalian vulva|vulvar sarcoma|sarcoma of vulva											EFO:0002920|NCIT:C40317|UMLS:C0238525|DOID:2096|SCTID:254897006																		owl:Class
MONDO:0005003	biolink:NamedThing	chronic pancreatitis	A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.	mondoexuq1wtf	pancreatitis, chronic											MESH:D050500|SCTID:235494005|NCIT:C84637|UMLS:C0149521|COHD:195596|EFO:0000342|ICD9:577.1																		owl:Class
MONDO:0007283	biolink:NamedThing	cataract 42	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.	mondoexuq1wtf	cataract 42|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.|cataract type 42|early-onset non-syndromic cataract caused by mutation in CRYBA2|CRYBA2 early-onset non-syndromic cataract|CTRCT42					Not in the OMIM series.						DOID:0110237|OMIM:115900|ICD10:Q12.0|UMLS:C4011454																		owl:Class
MONDO:0006257	biolink:NamedThing	jejunal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	jejunal carcinoid tumor|grade 1 neuroendocrine neoplasm of jejunum|carcinoid tumor of the jejunum|jejunum NET G1|carcinoid tumor of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunum carcinoid tumor|jejunal NET G1|jejunum neuroendocrine neoplasm G1|jejunum carcinoid tumor (disease)											NCIT:C6429|UMLS:C1334296|EFO:1000308																		owl:Class
MONDO:0006155	biolink:NamedThing	colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	grade 1 neuroendocrine neoplasm of colon|colon neuroendocrine tumor G1|colon carcinoid tumor|colon NET G1|carcinoid tumor of colon|colon neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the colon|colon carcinoid tumor (disease)|colonic carcinoid tumor|colon neuroendocrine neoplasm G1											EFO:1000188|NCIT:C5497																		owl:Class
MONDO:0013870	biolink:NamedThing	TMEM165-CDG	TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).	mondoexuq1wtf	congenital disorder of glycosylation type 2k|CDG IIk|congenital disorder of glycosylation, type IIk|congenital disorder of glycosylation type IIk|CDG2K|CDG syndrome type IIk|TMEM165-CDG (CDG-IIk)|carbohydrate deficient glycoprotein syndrome type IIk|CDG-IIk											UMLS:C3553571|Orphanet:314667|OMIM:614727|DOID:0070263|ICD10:E77.8|SCTID:732252005|GARD:0012413																		owl:Class
MONDO:0000947	biolink:NamedThing	psychosexual disorder		mondoexuq1wtf	non-organic sexual dysfunction											ICD9:302.9|SCTID:56627002|ICD9:302.89|ICD9:302.79|COHD:436666|DOID:10132																		owl:Class
MONDO:0012203	biolink:NamedThing	familial hyperthyroidism due to mutations in TSH receptor	Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	mondoexuq1wtf	hyperthyroidism, NONAUTOIMMUNE|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|hyperthyroidism, Nonautoimmune, autosomal dominant|hyperthyroidism, congenital Nonautoimmune|Nonautoimmune hyperthyroidism|resistance to thyroid stimulating hormone											MESH:C563786|GARD:0002858|UMLS:C1836706|OMIM:609152|Orphanet:424|ICD10:E05.8																		owl:Class
MONDO:0007850	biolink:NamedThing	autosomal dominant keratitis-ichthyosis-deafness syndrome	Autosomal dominant form of KID syndrome.	mondoexuq1wtf	Kid syndrome, autosomal dominant|keratitis-ichthyosis-deafness syndrome, autosomal dominant|KID syndrome, autosomal dominant|autosomal dominant KID syndrome											OMIM:148210|ICD10:Q80.8|DOID:0060871																		owl:Class
MONDO:0001680	biolink:NamedThing	vaginal mullerian papilloma	A benign papilloma that arises from the vagina in infants and young women.	mondoexuq1wtf	vaginal Müllerian papilloma|vaginal Mullerian papilloma|vaginal Muellerian papilloma											DOID:133|UMLS:C1519926|NCIT:C40255																		owl:Class
MONDO:0011265	biolink:NamedThing	tooth agenesis, selective, 2		mondoexuq1wtf	STHAG2|hypodontia/oligodontia 2|tooth agenesis, selective, 2											MESH:C566513|UMLS:C1865092|OMIM:602639																		owl:Class
MONDO:0005306	biolink:NamedThing	ankylosing spondylitis	An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.	mondoexuq1wtf	Marie-Strumpell disease|Bekhterev's disease|Bekhterev syndrome											SCTID:9631008|MESH:D013167|DOID:7147|ICD9:720.0|COHD:437082|NCIT:C84564|EFO:0003898|ICD10:M45																		owl:Class
MONDO:0005095	biolink:NamedThing	spondyloarthropathy	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.	mondoexuq1wtf	spondarthropathy|spondylarthrosis|spondylarthropathy|spondyloarthritis|seronegative spondyloarthropathy											EFO:0000706|GARD:0004971|DOID:1123|NCIT:C116778																		owl:Class
MONDO:0011986	biolink:NamedThing	tropical pancreatitis	Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.	mondoexuq1wtf	tropical calcific pancreatitis|TCP|tropical calcific chronic pancreatitis											UMLS:C4510860|SCTID:724540009|ICD10:K86.1|UMLS:C1842402|Orphanet:103918|MESH:C564276|OMIM:608189																		owl:Class
MONDO:0008185	biolink:NamedThing	hereditary chronic pancreatitis	Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.	mondoexuq1wtf	familial pancreatitis|autosomal dominant hereditary pancreatitis|pancreatitis, chronic|pancreatitis, chronic, protection against, included|pancreatitis, calcific, included|pancreatitis, calcific|pancreatitis, hereditary|pancreatitis, chronic, protection against|Hp|HPC|pancreatitis, chronic, susceptibility to|hereditary pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|PCTT|hereditary chronic pancreatitis											NCIT:C95436|ICD10:K86.1|Orphanet:676|GARD:0006632|SCTID:68072000|OMIM:167800|ICD9:577.8|MESH:C537262														https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis				owl:Class
MONDO:0032910	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 34		mondoexuq1wtf	MC1DN34|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34											OMIM:618776																		owl:Class
MONDO:0000500	biolink:NamedThing	tongue squamous cell carcinoma	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.	mondoexuq1wtf	tongue scc|tongue squamous cell carcinoma|scc of tongue|squamous cell carcinoma of tongue|squamous cell carcinoma of the tongue|scc of the tongue											UMLS:C0349566|EFO:1000055|NCIT:C4648|DOID:0050865|SCTID:276952000																		owl:Class
MONDO:0004631	biolink:NamedThing	tongue cancer	A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.	mondoexuq1wtf	malignant tumor of anterior two-thirds of tongue|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of tongue, NOS|malignant tongue neoplasm|malignant neoplasm of other sites of tongue|malignant neoplasm of tongue, tip and lateral border|malignant neoplasm of ventral tongue surface|malignant tumor of base of tongue|malignant tumor of lingual tonsil|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant neoplasm of ventral surface of tongue|cancer of tongue|malignant neoplasm of junctional zone of tongue|malignant tumor of lingual tonsil (disorder)|malignant neoplasm of tongue|malignant neoplasm of tongue NOS|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of dorsal tongue|malignant neoplasm of mobile part of tongue NOS|malignant neoplasm of dorsal surface of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of the tongue|malignant tumor of the tongue|tongue neoplasm malignant stage unspecified|tongue neoplasm malignant|malignant neoplasm of lingual tonsil|malignant tongue tumor|tongue neoplasm, malignant|malignant neoplasm of dorsum of tongue|tongue carcinoma|malignant neoplasm of mobile part of tongue|malignant neoplasm of dorsal tongue NOS|malignant neoplasm of anterior two-thirds of tongue|malignant tumor of tongue|malignant neoplasm of border of tongue|malignant tumor of mobile part of tongue|malignant neoplasm of fixed part of tongue NOS|tongue cancer|malignant tumor of posterior tongue|malignant neoplasm of base of tongue											DOID:8649|ICD10:C01|ICD9:141|ICD10:C02.4|ICD9:141.5|ICD9:141.6|NCIT:C9345|MESH:D014062|ICD9:141.2|ICD9:141.0|GARD:0007779|ICD9:141.1|ICD10:C02.0|ICD9:141.3|ICD10:C02.2|SCTID:363360003|ICD9:141.9|ICD10:C02.1|COHD:440655|ICD10:C02.9|ICD9:141.4														https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer				owl:Class
MONDO:0010587	biolink:NamedThing	epidermodysplasia verruciformis, X-linked	X-linked form of epidermodysplasia verruciformis.	mondoexuq1wtf	epidermodysplasia verruciformis, X-linked|EDV2|X-linked epidermodysplasia verruciformis|EDVX											MESH:C564430|UMLS:C1844589|OMIM:305350																		owl:Class
MONDO:0000762	biolink:NamedThing	syndrome caused by partial chromosomal duplication		mondoexuq1wtf	chromosomal duplication syndrome					Editor note: this is used in DOID to encompass typically partial duplications						DOID:0060429																		owl:Class
MONDO:0016045	biolink:NamedThing	tetragametic chimerism	Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.	mondoexuq1wtf	46,XX/46,XY chimerism											Orphanet:199310|ICD10:Q99.0|UMLS:CN200724																		owl:Class
MONDO:0017006	biolink:NamedThing	X and Y chromosomal anomaly		mondoexuq1wtf												Orphanet:263749|ICD10:Q98.8																		owl:Class
MONDO:0012104	biolink:NamedThing	acquired partial lipodystrophy	Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.	mondoexuq1wtf	lipodystrophy partial acquired|Barraquer-Simons syndrome|partial acquired lipodystrophy|lipodystophy partial progressive|acquired partial lipodystrophy|progressive cephalothoracic lipodystrophy|susceptibility to partial acquired lipodystrophy|APLD|lipodystrophy, cephalothoracic type|lipodystrophy, partial, acquired, susceptibility to|lipodystrophy cephalothoracic type|Apld, susceptibility to|lipodystrophy, partial, progressive											MESH:C562448|NCIT:C129723|Orphanet:79087|ICD10:E88.1|SCTID:75659004|OMIM:608709|UMLS:C0220989|GARD:0010509																		owl:Class
MONDO:0004614	biolink:NamedThing	chronic monocytic leukemia	Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.	mondoexuq1wtf	monocytic leukemia, chronic											NCIT:C34774|ICD9:206.11|ICD9:206.1|COHD:136056|DOID:8593|UMLS:C0023466|ICD10:C93.1|ICD9:206.10|SCTID:188745007																		owl:Class
MONDO:0001014	biolink:NamedThing	chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	mondoexuq1wtf	chronic leukemia (disease)|chronic leukemia|CML|CLL|leukemia (disease), chronic|adult chronic leukemia											ICD9:208.10|SCTID:92812005|UMLS:C1279296|COHD:140057|NCIT:C3483|DOID:1036																		owl:Class
MONDO:0014624	biolink:NamedThing	Brown syndrome	Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.	mondoexuq1wtf	Brown's tendon sheath syndrome|Brown syndrome|BRWNS|Brown tendon sheath syndrome|tendon sheath adherence, Superior oblique|Brown's (tendon) sheath syndrome|Brown's sheath syndrome|superior oblique tendon sheath syndrome											UMLS:C0155339|COHD:76122|ICD9:378.61|GARD:0005963|ICD10:H50.61|SCTID:35929003|DOID:10235|OMIM:616407																		owl:Class
MONDO:0021575	biolink:NamedThing	oocyte maturation defect 4		mondoexuq1wtf	oocyte maturation defect 4|OOMD4											OMIM:617743|UMLS:CN562785																		owl:Class
MONDO:0001842	biolink:NamedThing	uterine corpus dissecting leiomyoma	A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.	mondoexuq1wtf	Cotyledonoid dissecting leiomyoma|Sternberg tumor											DOID:13953|NCIT:C40172|UMLS:C1519847																		owl:Class
MONDO:0001560	biolink:NamedThing	hypertrophic pyloric stenosis	An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.	mondoexuq1wtf	congenital stricture of the pylorus|congenital hypertrophic pyloric stenosis|infantile stricture of the pylorus|IHPS|infantile constriction of the pylorus|infantile hypertrophic pyloric stenosis|pyloric stenosis, infantile|congenital pyloric stenosis|congenital constriction of the pylorus|infantile pyloric stenosis|congenital Hypertrophy of the pylorus|infantile Hypertrophy of the pylorus|congenital or infantile stricture of pylorus											ICD9:750.5|SCTID:48644003|EFO:0004707|MESH:D046248|ICD10:Q40.0|DC:0000381|NCIT:C98952|COHD:192433|DOID:12638																		owl:Class
MONDO:0001561	biolink:NamedThing	pyloric stenosis	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	mondoexuq1wtf	GOO|gastric outflow obstruction|pyloric stenosis (disease)|gastric outlet obstruction|pyloric stenosis		pyloric stenosis (disease)									ICD10:K31.1|SCTID:367403001|MESH:D011707|HP:0002021|DOID:12639|EFO:1000947|MedDRA:10062499|MESH:D017219|DOID:3122|NCIT:C34966																		owl:Class
MONDO:0007882	biolink:NamedThing	lattice degeneration of retina leading to retinal detachment		mondoexuq1wtf	lattice degeneration of retina leading to retinal detachment											OMIM:150500|UMLS:C1835491|MESH:C563633																		owl:Class
MONDO:0017635	biolink:NamedThing	parkinsonian syndrome due to neurodegenerative disease		mondoexuq1wtf						Editor note: TODO checkme						Orphanet:306666|UMLS:CN203530														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0019220	biolink:NamedThing	inborn disorder of cobalamin metabolism and transport		mondoexuq1wtf	disorder of cobalamin metabolism and transport											Orphanet:79171|UMLS:CN043592|UMLS:CN227587																		owl:Class
MONDO:0004671	biolink:NamedThing	penis carcinoma in situ	A in situ carcinoma that involves the penis.	mondoexuq1wtf	stage 0 penis carcinoma|penile carcinoma in situ aJCC v7|grade III penile intraepithelial neoplasia|penile carcinoma in situ|penile intraepithelial neoplasia grade III|Bowen's disease of the penis|grade III squamous intraepithelial lesion of the penis|Bowen's disease of penis|Bowen disease of the penis|grade III squamous intraepithelial lesion of penis|Queyrat's erythroplasia|Queyrat erythroplasia|erythroplasia of Queyrat|penis in situ carcinoma|carcinoma in situ of penis|carcinoma in situ of the penis|stage 0 penile carcinoma in situ											DOID:8872|ICD10:D00-D09|SCTID:398831006|COHD:193162|ICDO:8080/2|NCIT:C27790|ICD10:D07.4|UMLS:C0154089|ICD9:233.5																		owl:Class
MONDO:0023158	biolink:NamedThing	Fitz-Hugh-Curtis syndrome	Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.	mondoexuq1wtf	perihepatitis syndrome|gonococcal perihepatitis					Editor note: check taxon						MESH:C537936|SCTID:237041005|GARD:0006452														https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome				owl:Class
MONDO:0019240	biolink:NamedThing	sterol biosynthesis disorder	An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process.	mondoexuq1wtf	inborn error of sterol biosynthetic process|rare inborn error of sterol biosynthetic process|inborn sterol biosynthetic process disorder											UMLS:CN227602|Orphanet:79195																		owl:Class
MONDO:0019256	biolink:NamedThing	sterol metabolism disorder	An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process.	mondoexuq1wtf	inborn error of sterol metabolic process|inborn sterol metabolic process disorder|rare inborn error of sterol metabolic process											UMLS:CN227607|Orphanet:79226																		owl:Class
MONDO:0002307	biolink:NamedThing	blepharoconjunctivitis	Inflammation of both the eyelids and the conjunctiva.	mondoexuq1wtf												ICD9:372.20|NCIT:C34430|UMLS:C0005743|ICD10:H10.5|SCTID:68659002|ICD9:372.2|COHD:374347|DOID:2456|ICD10:H10.50																		owl:Class
MONDO:0004785	biolink:NamedThing	blepharitis	Inflammation of the eyelids near the eyelashes.	mondoexuq1wtf	eyelid inflammation|inflammation of eyelid											ICD9:373.4|SCTID:41446000|ICD10:H01.00|ICD9:373.9|ICD10:H01.9|MESH:D001762|ICD9:373.8|NCIT:C112183|UMLS:C0005741|COHD:378425|DOID:9423|ICD9:373.00|ICD9:373.0|ICD10:H01.0																		owl:Class
MONDO:0006558	biolink:NamedThing	pemphigoid gestationis	A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.	mondoexuq1wtf	pemphigoid gestationis|Herpes gestationis|gestational herpes|Herpes gestationis NOS (disorder)|pemphigus gestationis|gestational pemphigoid|Herpes gestationis (disorder)|Herpes gestationis unspecified (disorder)											ICD10CM:O26.4|Wikipedia:Gestational_pemphigoid|MESH:D006559|GARD:0006497|UMLS:C0019343|ICD10:L12.8|DOID:0040098|ICD10:O26.40|EFO:1000709|DOID:14482|NCIT:C85003|ICD9:646.80|MedDRA:10019939|ICD10:O26.4|Orphanet:63275|SCTID:86081009														https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis				owl:Class
MONDO:0008914	biolink:NamedThing	cardioauditory syndrome of Sanchez Cascos		mondoexuq1wtf	Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos											GARD:0008519|MESH:C535577|OMIM:212100|UMLS:C1859329														https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos				owl:Class
MONDO:0009490	biolink:NamedThing	Papillon-Lefevre disease	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.	mondoexuq1wtf	palmar-plantar hyperkeratosis and concomitant periodontal destruction|Pls|Papillon-Lefvre syndrome|Papillon-LEFèvre syndrome|Papillon Lefevre syndrome|hyperkeratosis palmoplantaris with periodontosis|Keratoris palmoplantaris with periodontopathia|PLS|palmoplantar keratoderma with periodontosis|PAPILLON-Lefevre syndrome|keratosis palmoplantaris with periodontopathia|PALS|keratosis palmoplantar - periodontopathy|keratosis palmoplantar-periodontopathy syndrome											NCIT:C84992|SCTID:40158001|OMIM:245000|UMLS:C0030360|GARD:0003100|ICD10:Q82.8|MESH:D010214|Orphanet:678|ICD9:759.89|DOID:3389																		owl:Class
MONDO:0012696	biolink:NamedThing	otosclerosis 4		mondoexuq1wtf	OTSC4|otosclerosis 4											OMIM:611571|MESH:C566914|UMLS:C1969046																		owl:Class
MONDO:0005349	biolink:NamedThing	otosclerosis	Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.	mondoexuq1wtf	otosclerosis (disease)|otosclerosis		otosclerosis (disease)									ICD10:H80.8|ICD10:H80.80|OMIMPS:166800|UMLS:C0029899|SCTID:11543004|MESH:D010040|ICD9:387|ICD9:387.8|DOID:12185|ICD9:387.9|EFO:0004213|COHD:439035|HP:0000362																		owl:Class
MONDO:0019121	biolink:NamedThing	pneumocystosis	Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.	mondoexuq1wtf	Pneumocystis pneumonia|pneumocystosis|Pneumocystis jirovecii pneumonia|pneumocystosis pneumonia|PJP|PCP|pulmonary pneumocystosis|Pneumocystis carinii pneumonia|Pneumocystis											GARD:0004386|UMLS:C1535939|ICD9:136.3|NCIT:C3334|EFO:0007448|ICD10:J17.3*|Orphanet:723|ICD10:B59+|SCTID:415125002|ICD10:B59|DOID:11339|COHD:438350|MESH:D011020														https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis				owl:Class
MONDO:0005249	biolink:NamedThing	pneumonia	An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.	mondoexuq1wtf	acute pneumonia											EFO:0003106|UMLS:C0032285|NCIT:C3333|COHD:255848|ICD9:483.8|MESH:D011014|ICD9:484.8|DOID:552|ICD9:483|ICD9:486|ICD10:J15|SCTID:233604007																		owl:Class
MONDO:0000136	biolink:NamedThing	keratosis follicularis spinulosa decalvans	Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.	mondoexuq1wtf	keratosis pilaris decalvans											Orphanet:2340|ICD9:757.39|GARD:0006829|ICD10:Q82.8|DC:0000550|SCTID:238626006																		owl:Class
MONDO:0005676	biolink:NamedThing	borna disease	An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.	mondoexuq1wtf	enzootic encephalomyelitis											EFO:0007178|DOID:5154|UMLS:C0006023|MESH:D001890																		owl:Class
MONDO:0024318	biolink:NamedThing	viral infection of central nervous system		mondoexuq1wtf	central nervous system viral infection|viral disease of central nervous system|viral infection of central nervous system											MESH:D020805|SCTID:302810003|ICD10:A80.A89|UMLS:C0348165																		owl:Class
MONDO:0010186	biolink:NamedThing	vitamin D-dependent rickets, type 2A	Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.	mondoexuq1wtf	VDR vitamin D-dependent rickets, type 2|vitamin D dependent rickets 2a|VDDR2A|generalized resistance to 1,25-dihydroxyvitamin D|hypocalcemic vitamin D-resistant rickets|rickets, hereditary vitamin D-resistant|Pseudovitamin D-deficiency, type 2A|vitamin D-dependent rickets, type 2A|vitamin D-dependent rickets, type 2 caused by mutation in VDR|Pddr 2A|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|vitamin d-dependent rickets type II with alopecia|vitamin D receptor deficiency rickets|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia|vitamin D-dependent rickets, type 2A, with or without alopecia|rickets-alopecia syndrome											UMLS:C0342646|NCIT:C131075|OMIM:277440|SCTID:237894002																		owl:Class
MONDO:0019642	biolink:NamedThing	vitamin D-dependent rickets, type 2	Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.	mondoexuq1wtf	VDDR II|vitamin D dependent rickets 2|vitamin D-dependent rickets type II|hereditary vitamin D-resistant rickets|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|hypocalcemic vitamin D-resistant rickets|vitamin D-resistant rickets type II|VDDR2|VDRR II|vitamin D receptor deficiency|HVDRR|vitamin D-dependent rickets, type 2					Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A						SCTID:72831007|ICD10:E83.3|NCIT:C131077|Orphanet:93160																		owl:Class
MONDO:0008696	biolink:NamedThing	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	mondoexuq1wtf	acanthosis nigricans muscle cramps acral enlargement|familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps|acanthosis nigricans with muscle cramps and acral enlargement											UMLS:C1860215|GARD:0000453|MESH:C536000|Orphanet:90301|OMIM:200170																		owl:Class
MONDO:0014751	biolink:NamedThing	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.	mondoexuq1wtf	cleft palate, psychomotor retardation, and distinctive FACIAL features|cleft palate, psychomotor retardation, and distinctive Facial features|CPRF|palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome											Orphanet:477993|OMIM:616728|UMLS:C4225229																		owl:Class
MONDO:0013324	biolink:NamedThing	lymphedema-posterior choanal atresia syndrome		mondoexuq1wtf	choanal atresia and lymphedema|CATLPH											UMLS:C3150875|Orphanet:99141|ICD10:Q82.0|OMIM:613611																		owl:Class
MONDO:0002095	biolink:NamedThing	vascular cancer	A malignant neoplasm arising from the blood vessels.	mondoexuq1wtf	malignant blood vessel neoplasm|malignant vascular tumor|blood vessel tumors|vasculature cancer|cancer of vasculature|blood vessel tumor (morphologic abnormality)|pulmonary vein malignant neoplasm|vascular tumors|malignant neoplasm of vasculature|leiomyosarcoma of the renal vein|blood vessel neoplasm|Haemangiomatous tumour|malignant tumor of pulmonary vein|malignant vascular neoplasm|vascular tissue neoplasm|malignant blood vessel tumor|malignant vasculature neoplasm|blood vessel tumour disorder|renal vein leiomyosarcoma|malignant tumor of pulmonary artery|pulmonary artery cancer|pulmonary artery malignant neoplasm|neoplasm of great vessel|blood vessel tumors (morphologic abnormality)|blood vessel tumor					Editor note: see also NCIT:C7390						MESH:D009383|NCIT:C8538|DOID:175																		owl:Class
MONDO:0010031	biolink:NamedThing	Sjogren-Larsson syndrome	SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.	mondoexuq1wtf	ichthyosis, spastic neurologic disorder, and oligophrenia|fatty aldehyde dehydrogenase deficiency|fatty alcohol:NAD+ oxidoreductase deficiency|SLS|FADH deficiency|fatty acid alcohol oxidoreductase deficiency|Sjogren-Larsson's syndrome|Sjogren-Larsson syndrome|Sjogren Larsson syndrome|Sjögren-Larsson syndrome|FAO deficiency|FALDH deficiency											Orphanet:816|GARD:0007654|MedDRA:10048676|UMLS:C0037231|SCTID:111303009|OMIM:270200|ICD10:Q87.1|MESH:D016111|NCIT:C85070|DOID:14501|EFO:0007031														https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome				owl:Class
MONDO:0013388	biolink:NamedThing	developmental and epileptic encephalopathy, 11	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.	mondoexuq1wtf	EIEE11|early infantile epileptic encephalopathy caused by mutation in SCN2A|DEE11|SCN2A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 11|epileptic encephalopathy, early infantile, type 11											DOID:0080421|OMIM:613721|UMLS:C3150987																		owl:Class
MONDO:0021100	biolink:NamedThing	breast neoplasm	A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.	mondoexuq1wtf	tumor of the breast|breast neoplasm (disease)|tumor of breast|neoplasm of the breast|breast tumor|neoplasm of breast|neoplasm, breast|breast neoplasm											EFO:0003869|NCIT:C2910|UMLS:CN236627|ICD9:239.3|MESH:D001943|COHD:81251|SCTID:126926005|ONCOTREE:BREAST																		owl:Class
MONDO:0013046	biolink:NamedThing	glycogen storage disease due to muscle beta-enolase deficiency	Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	mondoexuq1wtf	enolase-Beta deficiency|muscular enolase deficiency|glycogen storage disease XIII|glycogen storage disease 13|glycogenosis type 13|GSD13|GSDXIII|glycogen storage disease type 13|enolase 3 deficiency|glycogenosis due to muscle beta-enolase deficiency|muscle enolase deficiency|GSD 13|GSD due to muscle beta-enolase deficiency											GARD:0002125|UMLS:C2752027|OMIM:612932|MESH:C567861|Orphanet:99849|ICD10:E74.0																		owl:Class
MONDO:0016118	biolink:NamedThing	muscular glycogenosis		mondoexuq1wtf	glycogen storage myopathy											Orphanet:206959|ICD10:E74.0																		owl:Class
MONDO:0019547	biolink:NamedThing	Wells syndrome	Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.	mondoexuq1wtf	bullous cellulitis with eosinophilia|eosinophilic cellulitis|Wells' syndrome											SCTID:238931006|GARD:0000329|ICD10:L98.3|MESH:C536693|Orphanet:901|ICD9:682.9|UMLS:C0343101														https://rarediseases.info.nih.gov/diseases/329/wells-syndrome				owl:Class
MONDO:0018801	biolink:NamedThing	congenital bilateral absence of vas deferens	Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.	mondoexuq1wtf	congenital bilateral agenesis of vas deferens|congenital bilateral aplasia of vas deferens											MedDRA:10010670|OMIMPS:277180|Orphanet:48|SCTID:275416002|ICD9:752.89|GARD:0005461|ICD10:Q55.4																		owl:Class
MONDO:0008872	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism type II	'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'	mondoexuq1wtf	Mopd 2|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|MOPD2|microcephalic osteodysplastic primordial dwarfism, type II|osteodysplastic primordial dwarfism type II|Majewski osteodysplastic primordial dwarfism type II|osteodysplastic primordial dwarfism type 2|microcephalic osteodysplastic primordial dwarfism type 2|osteodysplastic primordial dwarfism, type 2|MOPD type II|microcephalic osteodysplastic primordial dwarfism, type 2|MOPD II											DOID:0060609|ICD10:Q87.1|MESH:C565898|SCTID:254103003|GARD:0009844|OMIM:210720|Orphanet:2637														https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2				owl:Class
MONDO:0006300	biolink:NamedThing	medullomyoblastoma with myogenic differentiation	A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.	mondoexuq1wtf	medullomyoblastoma with myogenic differentiation|medullomyoblastoma|MMB											ONCOTREE:MMB|EFO:1000368|UMLS:C0205833|ICDO:9472/3|DOID:3861|NCIT:C3706																		owl:Class
MONDO:0010891	biolink:NamedThing	lethal hemolytic anemia-genital anomalies syndrome	Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.	mondoexuq1wtf	hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities|water-West syndrome|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities											ICD10:D58.8|OMIM:600461|Orphanet:1046|UMLS:C1838120|GARD:0002642|MESH:C563935																		owl:Class
MONDO:0004548	biolink:NamedThing	adult type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.	mondoexuq1wtf	adult type testicular granulosa cell tumor|adult testicular granulosa cell tumor											UMLS:C1515284|NCIT:C39946|DOID:8394																		owl:Class
MONDO:0017614	biolink:NamedThing	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	Sex-linked intellectual disability, short stature, obesity and hypogonadism|X-linked intellectual disability - short stature – obesity|Sex-linked mental retardation, short stature, obesity and hypogonadism|Young-Hughes syndrome											GARD:0000345|MESH:C536715|Orphanet:3055|UMLS:C0796264|ICD10:Q87.8																		owl:Class
MONDO:0015635	biolink:NamedThing	porokeratotic eccrine ostial and dermal duct nevus	A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.	mondoexuq1wtf	Porokeratotic eccrine duct and hair follicle Nevus|Porokeratotic eccrine nevus|linear eccrine Nevus with comedones|comedo nevus of the palm											UMLS:C0473579|NCIT:C4740|SCTID:239118007|ICD10:Q82.5|Orphanet:166286																		owl:Class
MONDO:0024247	biolink:NamedThing	benign eccrine neoplasm	A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.	mondoexuq1wtf	benign eccrine tumor of skin|eccrine sweat gland neoplasm, benign|benign eccrine sweat gland neoplasm|benign eccrine tumor of the skin|benign eccrine neoplasm of the skin|benign eccrine neoplasm of skin|benign eccrine neoplasm|benign eccrine tumor|benign eccrine skin neoplasm|benign skin tumor with eccrine differentiation|benign eccrine skin tumor											UMLS:C1332493|SCTID:254715009|NCIT:C6797																		owl:Class
MONDO:0001351	biolink:NamedThing	uterine adnexa cancer		mondoexuq1wtf						Editor note: TODO add uberon class						ICD10:C57.4|ICD9:183|ICD9:183.9|DOID:11747																		owl:Class
MONDO:0002715	biolink:NamedThing	uterine cancer	Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.	mondoexuq1wtf	malignant neoplasm of uterus|malignant tumor of the uterus|malignant uterine neoplasm|cancer of the uterus|malignant uterus neoplasm|tumour of uterus|uterus cancer|malignant neoplasm of the uterus|malignant uterine tumor|uterine cancer|malignant tumor of uterus|uterine tumor|CA - cancer of uterus|neoplasm of uterus|cancer of uterus|uterus neoplasm											NCIT:C3552|COHD:197230|MESH:D014594|ICD9:179|SCTID:371973000|ICD10:C55|DOID:363																		owl:Class
MONDO:0009973	biolink:NamedThing	reticular dysgenesis	Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.	mondoexuq1wtf	AK2 deficiency|DeVaal disease|severe combined immunodeficiency with leukopenia|aleukocytosis|RD|hematopoietic hypoplasia, generalized|congenital aleukocytosis|reticular dysgenesis|congenital Aleukia|SCID with leukopenia|De Vaal disease|generalized hematopoietic hypoplasia|reticular Dysgenesia											ICD10:D81.0|OMIM:267500|GARD:0008625|SCTID:111584000|NCIT:C27070|DOID:0060020|Orphanet:33355|MESH:C538361|UMLS:C0272167														https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis				owl:Class
MONDO:0004687	biolink:NamedThing	severe nonproliferative diabetic retinopathy		mondoexuq1wtf	severe nonproliferative diabetic retinopathy|high risk non proliferative diabetic retinopathy|severe nonproliferative retinopathy|severe NPDR|severe npdr											SCTID:312905005|ICD9:362.06|UMLS:C0730278|DOID:8946																		owl:Class
MONDO:0001661	biolink:NamedThing	background diabetic retinopathy	An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.	mondoexuq1wtf	non proliferative diabetic retinopathy|non-proliferative diabetic retinopathy											UMLS:C0004606|DOID:13208|NCIT:C35668|SCTID:390834004|ICD9:362.03|ICD9:362.01																		owl:Class
MONDO:0010518	biolink:NamedThing	Wiskott-Aldrich syndrome	Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.	mondoexuq1wtf	Imd 2|Wiskott-Aldrich syndrome 1|Aldrich syndrome|eczema thrombocytopenia immunodeficiency syndrome|Wiskott Aldrich syndrome|Wiskott-Aldrich syndrome|Wiskott syndrome|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|WAS											NCIT:C3448|MedDRA:10047992|COHD:440982|ICD10:D82.0|OMIM:301000|SCTID:36070007|DOID:9169|ICD9:279.12|Orphanet:906|UMLS:C0043194|GARD:0007895|MESH:D014923														https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome				owl:Class
MONDO:0011049	biolink:NamedThing	fine-Lubinsky syndrome	Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.	mondoexuq1wtf	brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly, deafness, cataract and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract and mental retardation											MESH:C537933|UMLS:C0795941|Orphanet:1272|SCTID:720955004|GARD:0000958|OMIM:601353|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome				owl:Class
MONDO:0012255	biolink:NamedThing	chromosome 18 pericentric inversion		mondoexuq1wtf	chromosome 18 pericentric inversion											MESH:C563734|OMIM:609334|UMLS:C1836305																		owl:Class
MONDO:0013550	biolink:NamedThing	distal myopathy with posterior leg and anterior hand involvement	Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.	mondoexuq1wtf	MPD4|distal ABD-filaminopathy|Williams distal myopathy|myopathy, distal, type 4|myopathy, distal, 4											Orphanet:63273|UMLS:C4518807|OMIM:614065|UMLS:C3279722|SCTID:733489002|ICD10:G71.0																		owl:Class
MONDO:0021235	biolink:NamedThing	external ear neoplasm	A neoplasm (disease) that involves the external ear.	mondoexuq1wtf	neoplasm of external ear|tumor of the external Ear|neoplasm of external Ear|neoplasm of the external Ear|external Ear tumor|tumor of external ear|external ear neoplasm (disease)|tumor of external Ear|external ear tumor											UMLS:C0349575|SCTID:277155005|NCIT:C4652																		owl:Class
MONDO:0002776	biolink:NamedThing	external ear disease	A disease involving the external ear.	mondoexuq1wtf	preauricular cyst (disorder)|disorder of external ear|preauricular sinus and fistula|external ear disorder|preauricular sinus or fistula NOS (disorder)|disease or disorder of external ear|preauricular sinus or fistula|preauricular sinus and fistula (disorder)|disease of external ear|external ear disease or disorder|external ear disease|preauricular cyst											COHD:133859|ICD10:H61.9|DOID:379|SCTID:49130001|ICD9:744.47|ICD9:380.9|ICD10:H60-H62|UMLS:C0155388|NCIT:C26972|ICD9:380|ICD10:H60.H62																		owl:Class
MONDO:0006694	biolink:NamedThing	cerebral atherosclerosis	Atherosclerosis of the cerebral vasculature.	mondoexuq1wtf	cerebral atherosclerosis											NCIT:C34459|ICD9:437.0|SCTID:55382008|MedDRA:1008095|UMLS:C0007775|ICD10:I67.2|COHD:316437|DOID:12720|EFO:1000860																		owl:Class
MONDO:0005311	biolink:NamedThing	atherosclerosis	Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.	mondoexuq1wtf	atherosclerotic cardiovascular disease|atherosclerosis artery|atherosclerosis of artery					Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here						ICD9:440.8|DOID:1936|ICD10:I70|NCIT:C35768|EFO:0003914|ICD9:440|MESH:D050197|ICD10:I25.1|NCIT:C35771|SCTID:441574008																		owl:Class
MONDO:0006328	biolink:NamedThing	odontogenic cyst	A cyst in the jaw that arises from tissues of tooth development.	mondoexuq1wtf												EFO:1000406|NCIT:C54220|SCTID:235110008|ICD9:526.89|MESH:D009807|Wikipedia:Odontogenic_cyst																		owl:Class
MONDO:0007690	biolink:NamedThing	aromatase excess syndrome	Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.	mondoexuq1wtf	gynecomastia, hereditary|hereditary prepubertal gynecomastia|familial hyperestrogenism|increased aromatase activity|gynecomastia, familial, due to increased aromatase activity|aromatase excess syndrome|aromatase activity, increased|AEXS											MESH:C000591739|UMLS:C1970109|GARD:12949|ICD9:259.8|Orphanet:178345|OMIM:139300|ICD10:E30.1|DOID:0090122|GARD:0012494|SCTID:709075008														https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome				owl:Class
MONDO:0016417	biolink:NamedThing	congenital ichthyosis-microcephalus-tetraplegia syndrome		mondoexuq1wtf	congenital ichthyosis-microcephalus-quadriplegia syndrome											ICD10:Q87.8|Orphanet:2271																		owl:Class
MONDO:0017272	biolink:NamedThing	autosomal ichthyosis syndrome with prominent neurologics signs		mondoexuq1wtf	autosomal ichthyosis syndrome with prominent neurologic signs											UMLS:CN202793|Orphanet:281238																		owl:Class
MONDO:0011629	biolink:NamedThing	MOGS-CDG	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	mondoexuq1wtf	CDG syndrome type IIb|GCS1-CDG|CDG IIb|CDG 2B|glucosidase 1 deficiency|congenital disorder of glycosylation, type IIb|congenital disorder of glycosylation type 2b|CDG2B|carbohydrate deficient glycoprotein syndrome type IIb|congenital disorder of glycosylation type IIb|CDG-IIb|MOGS-CDG (CDG-IIb)											GARD:0010767|UMLS:C1853736|MESH:C565264|OMIM:606056|Orphanet:79330|SCTID:725028009|ICD10:E77.8|DOID:0070254																		owl:Class
MONDO:0009873	biolink:NamedThing	pilodental dysplasia-refractive errors syndrome	Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	Trichodental dysplasia with hyperopia|Euhidrotic ectodermal dysplasia|PILODENTAL dysplasia with refractive errors|Kopysc-Barczyk-Krol syndrome											Orphanet:2892|UMLS:C1849805|MESH:C535763|GARD:0000277|OMIM:262020																		owl:Class
MONDO:0012470	biolink:NamedThing	prostate cancer, hereditary, 7		mondoexuq1wtf	prostate cancer, hereditary, 7|HPC7|prostate cancer aggressiveness											UMLS:C1853195|OMIM:610321|MESH:C565201																		owl:Class
MONDO:0010496	biolink:NamedThing	X-linked intellectual disability-short stature-overweight syndrome	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.	mondoexuq1wtf	intellectual disability, X-linked 35|mental retardation, X-linked type 12|intellectual disability, X-linked type 12|intellectual disability, X-linked 12|mental retardation, X-linked 35|mental retardation, X-linked 12|MRX12											UMLS:C0796218|OMIM:300957|Orphanet:457240																		owl:Class
MONDO:0002703	biolink:NamedThing	appendix mucinous cystadenocarcinoma	An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.	mondoexuq1wtf	vermiform appendix mucinous cystadenocarcinoma|appendix colloidal cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma|appendix mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|appendix colloid cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of appendix|appendiceal mucinous cystadenocarcinoma|colloid cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of the appendix											UMLS:C1096639|DOID:3607|NCIT:C5511																		owl:Class
MONDO:0018330	biolink:NamedThing	mucinous adenocarcinoma of the appendix	Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.	mondoexuq1wtf	appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma											ONCOTREE:MAAP|NCIT:C43558|ICD10:C18.1|Orphanet:391723|UMLS:C1706832																		owl:Class
MONDO:0008643	biolink:NamedThing	veins, pattern of, on anterior thorax		mondoexuq1wtf	veins, pattern of, on anterior thorax											OMIM:192400																		owl:Class
MONDO:0041261	biolink:NamedThing	disorder of acid-base balance		mondoexuq1wtf	disturbance of acid-base balance|disorder of acid-base balance											UMLS:C0268029|SCTID:26436007																		owl:Class
MONDO:0014305	biolink:NamedThing	hereditary spastic paraplegia 63	An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 63|SPG63|spastic paraplegia 63, autosomal recessive|AMPD2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 63|hereditary spastic paraplegia type 63|spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2											OMIM:615686|Orphanet:401805|ICD10:G11.4|UMLS:C3810295|SCTID:726610000|DOID:0110814																		owl:Class
MONDO:0012733	biolink:NamedThing	autosomal recessive bestrophinopathy	Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	mondoexuq1wtf	ARB|bestrophinopathy|bestrophinopathy, autosomal recessive|retinopathy, Burgess-Black type											UMLS:C3888198|UMLS:C2678493|SCTID:723828008|MESH:C567518|OMIM:611809|Orphanet:139455|DOID:0050662|ICD10:H35.5																		owl:Class
MONDO:0019118	biolink:NamedThing	inherited retinal dystrophy	An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	retinal dystrophy|familial retinal dystrophy|genetic retinal dystrophy|hereditary retinal degeneration|fundus dystrophy|hereditary retinal dystrophy					Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same						Orphanet:71862|ICD9:362.70|SCTID:41799005|MedDRA:10038857|UMLS:C0154860|HP:0000556|ICD9:362.7|COHD:380395|UMLS:C0854723|MESH:D058499|DOID:8500|ICD9:362.72|ICD9:362.75|NCIT:C35625|COHD:377270|ICD10:H35.50|NCIT:C35194|SCTID:314407005|ICD10:H35.5|DOID:8501																		owl:Class
MONDO:0012580	biolink:NamedThing	hereditary pulmonary alveolar proteinosis	Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.	mondoexuq1wtf	congenital PAP|sufactant metabolism dysfunction, pulmonary|congenital pulmonary alveolar proteinosis|pulmonary alveolar proteinosis, congenital|inborn error of pulmonary surfactant metabolism|hereditary pulmonary alveolar proteinosis											MESH:C535832|SCTID:707442002|OMIMPS:265120|UMLS:C2931035|Orphanet:264675|ICD10:J84.0|GARD:0004582																		owl:Class
MONDO:0001437	biolink:NamedThing	pulmonary alveolar proteinosis	A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.	mondoexuq1wtf	pulmonary alveolar proteinosis|PAP											ICD10:J84.01|MESH:D011649|ICD9:516.0|COHD:435853|NCIT:C85037|DOID:12120|UMLS:C0034050|Reactome:R-HSA-5683826|SCTID:10501004																		owl:Class
MONDO:0011940	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to		mondoexuq1wtf	Mycobacterium tuberculosis, susceptibility to infection by|mycobacterium tuberculosis, susceptibility to|Mycobacterium tuberculosis, protection against					Editor note: consider merge with parent. This OMIM ID seems to represent the whole series						OMIM:607948|MESH:C536092|GARD:0002456																		owl:Class
MONDO:0000070	biolink:NamedThing	mycobacterium tuberculosis, susceptibility		mondoexuq1wtf												DC:0000298																		owl:Class
MONDO:0008848	biolink:NamedThing	atrioventricular dissociation	Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.	mondoexuq1wtf	atrioventricular dissociation (disease)|A-V dissociation|atrioventricular dissociation		atrioventricular dissociation (disease)									HP:0011709|MESH:D006327|SCTID:50799005|OMIM:209600|ICD9:426.89																		owl:Class
MONDO:0006834	biolink:NamedThing	lip cancer	A primary or metastatic malignant neoplasm involving the lip.	mondoexuq1wtf	malignant neoplasm of lip, inner aspect|malignant tumor of labial mucosa|lip cancer|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of external Lip, not specified as upper or lower|malignant neoplasm of lip|malignant tumor of commissure of lip|cancer of lip|malignant neoplasm of vermilion border of lip|malignant neoplasm of other sites of lip|malignant neoplasm of lower lip, inner aspect|malignant tumour of labial commissure|malignant tumour of lip|malignant neoplasm of lip, external|malignant neoplasm of labial commissure of lip|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of commissure of lip|malignant Lip neoplasm|malignant Lip tumor|malignant tumor of Lip|malignant neoplasm of Lip|malignant tumor of the Lip|malignant neoplasm of lip, vermilion border|malignant neoplasm of the Lip|malignant neoplasm of lower lip, mucosa|malignant lip neoplasm|malignant tumor of lower labial mucosa|malignant neoplasm of lip, unspecified|malignant neoplasm of lip, unspecified, vermilion border|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant neoplasm of lower lip, oral aspect											ICD9:140.6|ICD10:C00.9|ICD9:140.8|MESH:D008048|ICD10:C00|DOID:8564|SCTID:187622006|ICD9:140.5|ICD9:140|MedDRA:10007089|EFO:1001019|NCIT:C7485																		owl:Class
MONDO:0010733	biolink:NamedThing	hereditary spastic paraplegia 2	Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	mondoexuq1wtf	SPG2|Sppx2|hereditary spastic paraplegia type 2|hereditary spastic paraplegia caused by mutation in PLP1|spastic paraplegia 2|spastic paraplegia type 2|X-linked spastic paraplegia type 2|PLP1 hereditary spastic paraplegia|spastic paraparesis type 2|X-linked spastic paraplegia 2|spastic gait type 2|spastic paraplegia 2, X-linked											DOID:0110773|SCTID:723622007|GARD:0004923|Orphanet:99015|ICD10:G11.4|OMIM:312920|UMLS:C1839264																		owl:Class
MONDO:0016712	biolink:NamedThing	classic medulloblastoma	Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.	mondoexuq1wtf	classic medulloblastoma											SCTID:699704002|Orphanet:251867|UMLS:C1707400|NCIT:C54039|ICD10:C71.6																		owl:Class
MONDO:0032931	biolink:NamedThing	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal		mondoexuq1wtf	PHRINL|Phrinl Syndrome|PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL|Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive											OMIM:618810																		owl:Class
MONDO:0014558	biolink:NamedThing	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 32|mental retardation, autosomal dominant type 32|intellectual disability, autosomal dominant 32|autosomal dominant intellectual disability 32|MRD32|autosomal dominant mental retardation 32|intellectual disability, autosomal dominant type 32|mental retardation, autosomal dominant 32|KAT6A Syndrome											OMIM:616268|DOID:0070062|Orphanet:457193																		owl:Class
MONDO:0017579	biolink:NamedThing	Baraitser-Winter cerebrofrontofacial syndrome	Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.	mondoexuq1wtf	trigonocephaly ptosis coloboma|cerebro-frontofacial syndrome, type 3|trigonocephaly ptosis intellectual disability|Fryns-Aftimos syndrome|iris coloboma with ptosis hypertelorism and mental retardation|Baraitser-winter syndrome|BRWS|iris coloboma with ptosis hypertelorism and intellectual disability|trigonocephaly ptosis mental retardation											OMIMPS:243310|DOID:0060229|ICD10:Q87.0|Orphanet:2995|ICD9:759.89|SCTID:702410002|GARD:0005279														https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome				owl:Class
MONDO:0100036	biolink:NamedThing	variable age onset epilepsy	An epilepsy syndrome that has an onset during variable ages and stages of life.	mondoexuq1wtf	variable age at onset electroclinical syndrome				2018-06-23 19:42:08+00:00							DOID:0050706|http://orcid.org/0000-0001-8486-0558																		owl:Class
MONDO:0019922	biolink:NamedThing	paternal uniparental disomy of chromosome 7	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	mondoexuq1wtf	UPD(7)pat|paternal uniparental disomy of chromosome type 7											ICD10:Q99.8|SCTID:766721001|Orphanet:96192																		owl:Class
MONDO:0012440	biolink:NamedThing	migraine with or without aura, susceptibility to, 10		mondoexuq1wtf	migraine with or without aura, susceptibility to, type 10|Mgr10|migraine with or without aura, susceptibility to, 10|migraine with pulsation											OMIM:610208																		owl:Class
MONDO:0006532	biolink:NamedThing	cholesteatoma of external ear	A cholesteatoma (disease) that involves the external ear.	mondoexuq1wtf	cholesteatoma (disease) of external ear|external ear cholesteatoma (disease)|external canal cholesteatoma											ICD10:H60.4|EFO:1000677|SCTID:35247001|ICD10:H60.40|ICD9:380.21|COHD:378434|UMLS:C0155398|DOID:9462																		owl:Class
MONDO:0019242	biolink:NamedThing	inborn disorder of branched-chain amino acid metabolism	An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.	mondoexuq1wtf	disorder of branched chain amino acid metabolism|rare inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|branched chain amino acid metabolism disorder|disorder of branched-chain amino acid metabolism|inborn error of branched-chain amino acid metabolic process					Editor note: consider parent for non-inborn form						UMLS:C0342712|Orphanet:79197|ICD10:E71.1|SCTID:116020001|ICD10:E71.0|ICD10:E71.2																		owl:Class
MONDO:0021979	biolink:NamedThing	Basaran Yilmaz syndrome	A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.	mondoexuq1wtf	keratoderma, hypotrichosis and leukonychia totalis											UMLS:C2931577|MESH:C537660|GARD:0000833														https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome				owl:Class
MONDO:0032686	biolink:NamedThing	spermatogenic failure 35		mondoexuq1wtf	SPGF35|SPERMATOGENIC FAILURE 35											OMIM:618341																		owl:Class
MONDO:0005413	biolink:NamedThing	cystic fibrosis associated meconium ileus	Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.	mondoexuq1wtf	cystic fibrosis associated meconium ileum											EFO:0004608																		owl:Class
MONDO:0054868	biolink:NamedThing	meconium ileus	Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.	mondoexuq1wtf	meconium ileus											SCTID:206523001|NCIT:C98979																		owl:Class
MONDO:0005173	biolink:NamedThing	actinic keratosis	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.	mondoexuq1wtf	solar keratosis|SK - solar keratosis|Senile hyperkeratosis|actinic (solar) keratosis|Senile keratosis|senile keratosis|actinic keratosis|actinic keratosis (disease)		actinic keratosis (disease)									ICD9:702.19|MESH:D055623|EFO:0002496|UMLS:C4282032|UMLS:C0022602|HP:0025127|SCTID:398838000|ICD10:L57.0|DOID:8866|NCIT:C3148|ICD9:702.0																		owl:Class
MONDO:0000611	biolink:NamedThing	pre-malignant neoplasm	A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.	mondoexuq1wtf												DOID:0060071																		owl:Class
MONDO:0017058	biolink:NamedThing	autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.	mondoexuq1wtf	RI-CMT|intermediate Charcot-Marie-Tooth disease, autosomal recessive|autosomal recessive intermediate Charcot-Marie-Tooth disease											UMLS:CN202416|ICD10:G60.0|GARD:0012452|Orphanet:268337														https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease				owl:Class
MONDO:0018778	biolink:NamedThing	intermediate Charcot-Marie-Tooth disease		mondoexuq1wtf	Charcot-Marie-Tooth disease recessive intermediate|Intermediate hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease intermediate type|Charcot-Marie-Tooth disease dominant intermediate											DOID:0050543|Orphanet:476123|UMLS:CN776860																		owl:Class
MONDO:0032668	biolink:NamedThing	Diamond-Blackfan anemia 18		mondoexuq1wtf	DBA18|DIAMOND-BLACKFAN ANEMIA 18											OMIM:618310																		owl:Class
MONDO:0008409	biolink:NamedThing	MYH7-related late-onset scapuloperoneal muscular dystrophy		mondoexuq1wtf	SPMD|scapuloperoneal syndrome, myopathic type|MYH7-related late-onset SPMD|MYH7-related late-onset scapuloperoneal syndrome|SPMM|scapuloperoneal muscular dystrophy|MYH7-related scapuloperoneal myopathy|scapuloperoneal myopathy, MYH7-related											SCTID:129620000|Orphanet:437572|OMIM:181430|ICD10:G71.0|GARD:0010313|UMLS:CN074265																		owl:Class
MONDO:0016195	biolink:NamedThing	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)		mondoexuq1wtf												Orphanet:209185																		owl:Class
MONDO:0003700	biolink:NamedThing	brachial plexus neoplasm	A neoplasm (disease) that involves the brachial nerve plexus.	mondoexuq1wtf	brachial nerve plexus neoplasm (disease)|brachial nerve plexus neoplasm|tumor of brachial plexus|brachial plexus neoplasm|neoplasm of the brachial plexus|brachial nerve plexus tumor|neoplasm of brachial plexus|tumor of the brachial plexus|neoplasm of brachial nerve plexus|brachial plexus neoplasms|tumor of brachial nerve plexus|brachial plexus tumor											UMLS:C1332602|DOID:5913|NCIT:C5823																		owl:Class
MONDO:0006683	biolink:NamedThing	brachial plexus neuropathy	A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.	mondoexuq1wtf	brachial plexus disorder|brachial plexopathy|peripheral neuropathy of brachial nerve plexus|brachial nerve plexus peripheral neuropathy											EFO:1000844|ICD10:G54.0|UMLS:C0700251|DOID:3690|ICD9:353.0|MESH:D020516|NCIT:C27194|SCTID:3548001|COHD:378741																		owl:Class
MONDO:0005165	biolink:NamedThing	benign neoplasm	A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.	mondoexuq1wtf	benign tumor|neoplasm (disease), benign|benign neoplasm|benign neoplasm (disease)|neoplasm, benign|benign unclassifiable tumor|organ system benign neoplasm|cell type benign neoplasm					Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14						ICDO:8000/0|ICD9:229.8|ICD9:229.9|DOID:0060085|ICD9:210-229.99|SCTID:20376005|NCIT:C3677|EFO:0002422|ICD10:D10.D36|DOID:0060072|DOID:0060084																		owl:Class
MONDO:0002515	biolink:NamedThing	hepatobiliary disease	A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.	mondoexuq1wtf	hepatobiliary disorder|liver and biliary disease|liver and biliary tract disease|hepatobiliary system disease or disorder|disease or disorder of hepatobiliary system|hepatobiliary system disease|disorder of hepatobiliary system|liver and biliary system disorder|liver and biliary disorder|disease of hepatobiliary system											DOID:3118|NCIT:C3959|UMLS:C0267792																		owl:Class
MONDO:0009983	biolink:NamedThing	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|retinitis pigmentosa, deafness, mental retardation, and hypogonadism|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome											GARD:0004683|Orphanet:3085|OMIM:268020|UMLS:C1849401|ICD10:Q87.8|MESH:C564841																		owl:Class
MONDO:0004974	biolink:NamedThing	adrenal gland pheochromocytoma	A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.	mondoexuq1wtf	chromaffin paraganglioma of the adrenal gland|PCC|Intraadrenal paraganglioma|adrenal gland Chromaffinoma|adrenal pheochromocytoma|pheochromocytoma (adrenal)|adrenal medullary paraganglioma|adrenal medullary pheochromocytoma|pheochromocytoma|adrenal gland paraganglioma|adrenal gland chromaffin paraganglioma|adrenal gland pheochromocytoma											ICDO:8700/0|EFO:0000239|DOID:0050892|NCIT:C3326																		owl:Class
MONDO:0021072	biolink:NamedThing	sympathetic paraganglioma	A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.	mondoexuq1wtf	chromaffin tumor|chromaffin neoplasm|paraganglioma of sympathetic nervous system|sympathetic nervous system paraganglioma|Chromaffinoma|sympathetic Paraganglionic neoplasm|sympathetic paraganglioma											SCTID:399343007|ICDO:8681/1|MESH:C531777|NCIT:C4216																		owl:Class
MONDO:0012445	biolink:NamedThing	autosomal recessive nonsyndromic deafness 59	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 59|PJVK autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|DFNB59|autosomal recessive deafness 59|deafness, autosomal recessive type 59					Editor note: TODO check genes						ICD10:H90.3|OMIM:610220|MESH:C565698|DOID:0110511|UMLS:C1857744																		owl:Class
MONDO:0004659	biolink:NamedThing	eye carcinoma in situ	A carcinoma in situ involving a eye.	mondoexuq1wtf	carcinoma in situ of eyeball of camera-type eye|carcinoma in situ of eye|eyeball of camera-type eye carcinoma in situ|stage 0 eye carcinoma|stage 0 eyeball of camera-type eye carcinoma|eye in situ carcinoma											ICD10:D09.2|SCTID:92590009|COHD:373732|ICD9:234.0|UMLS:C0154094|DOID:8792																		owl:Class
MONDO:0002466	biolink:NamedThing	eye carcinoma	A carcinoma that arises from epithelial cells of the eye	mondoexuq1wtf	eyeball of camera-type eye carcinoma|ocular carcinoma|carcinoma of the eye|eye carcinoma|carcinoma of eyeball of camera-type eye|carcinoma of eye											NCIT:C6079|UMLS:C0848866|DOID:295																		owl:Class
MONDO:0014753	biolink:NamedThing	autosomal recessive optic atrophy		mondoexuq1wtf	autosomal recessive nonsyndromic optic atrophy|autosomal recessive isolated optic atrophy					ORDO treats as isolated but includes syndromic forms as OMIM xrefs						ICD10:H47.2|Orphanet:98676|UMLS:CN229293																		owl:Class
MONDO:0010554	biolink:NamedThing	Abruzzo-Erickson syndrome	Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	mondoexuq1wtf	cleft palate-coloboma-deafness syndrome|CHARGE like syndrome X-linked|Abruzzo-Erickson syndrome|ABERS|CHARGE-like syndrome|CHARGE-like syndrome, X-linked											MESH:C535559|ICD10:Q87.8|OMIM:302905|UMLS:C1844862|GARD:0000360|SCTID:718574003|Orphanet:921														https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome				owl:Class
MONDO:0001478	biolink:NamedThing	anisometropia	A condition of an inequality of refractive power of the two eyes.	mondoexuq1wtf	anisometropia|anisometropia (disease)		anisometropia (disease)									HP:0012803|ICD10:H52.31|DOID:12273|MESH:D015858|CSP:1116-1678|SCTID:3289004|ICD9:367.31|COHD:375547|UMLS:C0003081																		owl:Class
MONDO:0004892	biolink:NamedThing	refractive error	A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.	mondoexuq1wtf												DOID:9835|SCTID:39021009|ICD10:H52.7|MESH:D012030																		owl:Class
MONDO:0002522	biolink:NamedThing	tenosynovial giant cell tumor	A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.	mondoexuq1wtf	giant cell tumor of the Tenosynovium|giant cell neoplasm of the Tenosynovium|tenosynovial giant cell neoplasm|giant cell neoplasm of Tenosynovium|tendon sheath giant cell neoplasm|fibrous histiocytoma of tendon sheath|tendon sheath giant cell tumor|tenosynovial giant cell tumor|giant cell neoplasm of tendon sheath|giant cell tumor of tendon sheath|giant cell tumor of Tenosynovium											SCTID:310605004|NCIT:C3402|EFO:1000562|ICD9:727.02|UMLS:C1318543|ICDO:9252/0|ICD9:727.89|DOID:314																		owl:Class
MONDO:0021581	biolink:NamedThing	connective tissue neoplasm	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.	mondoexuq1wtf	neoplasm of connective tissues|tumour of connective tissue|connective tissue neoplasm|tumor of connective tissue|neoplasm, connective tissue|connective tissue neoplasm (disease)|connective tissue neoplasms|neoplasm of connective tissue|connective tissue tumor											SCTID:126598008|UMLS:C0027656|ICD9:239.2|MESH:D009372																		owl:Class
MONDO:0025494	biolink:NamedThing	porcine reproductive and respiratory syndrome	A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)	mondoexuq1wtf	swine infertility and respiratory syndrome|blue-eared pig disease|pig disease, blue-eared|swine disease, mystery|PRRS|mystery swine disease|blue eared pig disease|porcine epidemic abortion and respiratory syndrome											MESH:D019318|UMLS:C0376538																		owl:Class
MONDO:0015458	biolink:NamedThing	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.	mondoexuq1wtf	intellectual disability - hypoplastic corpus callosum - preauricular tag|Da Silva syndrome											ICD10:Q87.8|UMLS:CN199578|SCTID:722455002|GARD:0012487|Orphanet:1495																		owl:Class
MONDO:0016988	biolink:NamedThing	hyperinsulinism due to HNF4A deficiency	Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).	mondoexuq1wtf	hyperinsulinemic hypoglycemia due to HNF4A deficiency											UMLS:C4274078|Orphanet:263455|ICD10:E16.1|SCTID:717048002																		owl:Class
MONDO:0020278	biolink:NamedThing	metabolic disease associated with ocular features		mondoexuq1wtf												Orphanet:98710|UMLS:CN207081																		owl:Class
MONDO:0005183	biolink:NamedThing	ovarian cystadenoma	A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.	mondoexuq1wtf	ovarian cystadenoma|simple cystoma of ovary|benign cystadenoma of ovary|ovary cystadenoma|cystadenoma of the ovary|cystadenoma of ovary|simple cystoma of the ovary|cystoma serosum simplex|simple ovarian cystoma|benign cystadenoma of the ovary|benign ovarian cystadenoma											EFO:0002511|UMLS:C0346169|DOID:3269|ICD9:620.2|SCTID:198297004|NCIT:C4060																		owl:Class
MONDO:0007009	biolink:NamedThing	ureterolithiasis	The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.	mondoexuq1wtf	ureteric stone|calculus of ureter|ureteric calculus											EFO:1001228|ICD9:592.1|SCTID:31054009|DOID:14146|NCIT:C114696|UMLS:C0041952|COHD:201916|MESH:D053039																		owl:Class
MONDO:0013110	biolink:NamedThing	neurodegenerative syndrome due to cerebral folate transport deficiency		mondoexuq1wtf	cerebral folate receptor alpha deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|cerebral folate deficiency syndrome|cerebral folate transport deficiency											Orphanet:217382|SCTID:711403001|ICD10:G31.8|ICD9:266.2|GARD:0010594|MESH:C567791|DOID:0050719|OMIM:613068																		owl:Class
MONDO:0017313	biolink:NamedThing	disorder of folate metabolism and transport		mondoexuq1wtf												Orphanet:285657|UMLS:CN227114																		owl:Class
MONDO:0020689	biolink:NamedThing	AIDS dementia complex	A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)	mondoexuq1wtf	ADC|Dementia, HIV|AIDS dementia|Dementia associated with acquired immunodeficiency syndrome|Complex, AIDS-related Dementia|HIV associated cognitive and motor complex|Encephalopathy, HIV|HIV-associated dementia|HIV-Associated Cognitive Motor Complex|HIV Encephalopathies|Encephalopathies, HIV|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|AIDS dementia complex|AIDS related cognitive impairment|Dementia Complex, AIDS|Encephalopathy, AIDS|HIV-1 Cognitive and Motor Complex|HIV-1-Associated Cognitive Motor Complex|HIV ASSOC COGNITIVE MOTOR COMPLEX|Dementia associated with AIDS|AIDS - Acquired immune deficiency syndrome dementia complex|Complex, AIDS Dementia|Dementia Complex, AIDS-related|acquired immune deficiency syndrome-related dementia|HIV 1 Cognitive and Motor Complex|acquired immune deficiency syndrome dementia complex|HIV Dementias|AIDS RELAT DEMENTIA COMPLEX|Dementia Complex, Acquired Immune Deficiency Syndrome|HIV Dementia|ADC - Acquired immune deficiency syndrome dementia complex|Acquired-Immune Deficiency Syndrome Dementia Complex|HIV 1 Associated Cognitive Motor Complex|AIDS Dementia|AIDS-related Dementia Complex|Acquired immune deficiency syndrome-related dementia|Acquired immune deficiency syndrome dementia complex|AIDS Encephalopathies|AIDS with dementia (disorder)|Dementia Complex, AIDS related|DEMENTIA COMPLEX AIDS RELAT|AIDS Encephalopathy|AIDS related Dementia Complex|AIDS Dementia Complex|Dementias, HIV|HIV encephalitis|Encephalopathies, AIDS|HIV Associated Cognitive Motor Complex|HIV Encephalopathy											MESH:D015526|SCTID:421529006|EFO:0002608|GARD:0008250|NCIT:C2864|UMLS:C0001849|ICD9:294.8																		owl:Class
MONDO:0021674	biolink:NamedThing	post-viral disorder	A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.	mondoexuq1wtf	sequela of viral disease											ICD9:139.8|SCTID:123948009														https://github.com/monarch-initiative/mondo/issues/2950				owl:Class
MONDO:0016136	biolink:NamedThing	cerebellar ataxia with peripheral neuropathy		mondoexuq1wtf												ICD10:G60.2|Orphanet:207028																		owl:Class
MONDO:0019441	biolink:NamedThing	ATTRV122I amyloidosis	Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	mondoexuq1wtf	ATTRV122I-related amyloidosis|TTR-related cardiac amyloidosis|TTR-related amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ATTR cardiomyopathy|transthyretin-related familial amyloid cardiomyopathy											ICD10:E85.4+|Orphanet:85451|ICD10:I43.1*|SCTID:715655000																		owl:Class
MONDO:0021027	biolink:NamedThing	genetic hair anomaly	An instance of hair anomaly that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic hair anomaly											Orphanet:183450																		owl:Class
MONDO:0018085	biolink:NamedThing	umbilical cord ulceration-intestinal atresia syndrome	Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.	mondoexuq1wtf	umbilical cord ulcer with intestinal atresia|umbilical cord ulceration and intestinal atresia|umbilical ulceration and intestinal atresia											MESH:C536938|Orphanet:3405|UMLS:C2931371|GARD:0005403																		owl:Class
MONDO:0014825	biolink:NamedThing	chromosome 11p13 deletion syndrome, distal		mondoexuq1wtf												UMLS:C4311047|OMIM:616902																		owl:Class
MONDO:0019557	biolink:NamedThing	chilblain lupus	A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.	mondoexuq1wtf	Hutchinson lupus|CHLE					Editor note: ORDO classifies as genetic and has a separate subclass for familiar form						ICD10:L93.2|UMLS:CN239336|UMLS:C0024145|Orphanet:90280|DOID:0060386|MedDRA:10025141																		owl:Class
MONDO:0017256	biolink:NamedThing	idiopathic anterior uveitis		mondoexuq1wtf												UMLS:C0339315|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|SCTID:231947004|ICD10:H20.8|ICD10:H20.9|Orphanet:280914																		owl:Class
MONDO:0022792	biolink:NamedThing	coccygodynia	Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.	mondoexuq1wtf	coccydynia											GARD:0005168														https://rarediseases.info.nih.gov/diseases/5168/coccygodynia				owl:Class
MONDO:0012089	biolink:NamedThing	ichthyosis prematurity syndrome	Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	mondoexuq1wtf	IPS|ichthyosis congenita IV|congenital ichthyosis type 4|ichthyosis-prematurity syndrome|ichthyosis prematurity syndrome|idiopathic pneumonia syndrome|ichthyosis congenita 4											NCIT:C62590|MESH:C536271|Orphanet:88621|SCTID:12381000132107|OMIM:608649|UMLS:C1504431|UMLS:C1837610|GARD:0009886														https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome				owl:Class
MONDO:0043905	biolink:NamedThing	pneumonitis	An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.	mondoexuq1wtf	inflammation of lung parenchyma|pneumonitis|lung parenchyma inflammation					Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious						SCTID:205237003|NCIT:C113159																		owl:Class
MONDO:0004156	biolink:NamedThing	pancreatic mucinous cystadenocarcinoma	A mucinous cystadenocarcinoma that involves the pancreas.	mondoexuq1wtf	pancreatic colloid cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|pancreatic colloidal Cystadencarcinoma|mucinous Cystadencarcinoma of the pancreas|colloid Cystadencarcinoma of the pancreas|colloidal Cystadencarcinoma of pancreas|colloid Cystadencarcinoma of pancreas|colloidal Cystadencarcinoma of the pancreas|pancreatic colloid Cystadencarcinoma|pancreatic mucinous cystadenocarcinoma											UMLS:C1335308|DOID:7234|NCIT:C5713																		owl:Class
MONDO:0011812	biolink:NamedThing	Duane-radial ray syndrome	A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.	mondoexuq1wtf	DRRS|Duane-radial ray syndrome|Duane anomaly with radial abnormalities and deafness|acro-renal-ocular syndrome|Duane anomaly with radial ray abnormalities and deafness|Okihiro syndrome|DR syndrome|acrorenocular syndrome											ICD10:Q87.8|OMIM:607323|ICD9:759.89|Orphanet:93293|GARD:0009182|SCTID:699867001|DOID:0060747|UMLS:CN206803|Orphanet:959|SCTID:720415006														https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome				owl:Class
MONDO:0011862	biolink:NamedThing	hereditary spastic paraplegia 24	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.	mondoexuq1wtf	hereditary spastic paraplegia type 24|spastic paraplegia 24|autosomal recessive spastic paraplegia type 24|SPG24|autosomal recessive spastic paraplegia 24|spastic paraplegia 24, autosomal recessive											MESH:C564375|UMLS:C1843569|ICD10:G11.4|Orphanet:101004|DOID:0110775|GARD:0009296|OMIM:607584																		owl:Class
MONDO:0017395	biolink:NamedThing	fixed pigmented erythema		mondoexuq1wtf	fixed drug eruption											SCTID:73692007|Orphanet:293812|MedDRA:10048796																		owl:Class
MONDO:0000447	biolink:NamedThing	autosomal dominant polycystic liver disease	An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.	mondoexuq1wtf	PCLD|congenital cystic liver disease|polycystic liver disease|fibrocystic liver disease|ADPLD|AD polycystic liver disease|congenital hepatic cyst											UMLS:C0158683|HP:0006557|OMIMPS:174050|MedDRA:10048834|DOID:0050770|MedDRA:10010427|SCTID:72925005|ICD9:751.62|ICD10:Q44.6|NCIT:C82833|Orphanet:2924|MedDRA:10083939|GARD:0009457														https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease				owl:Class
MONDO:0016167	biolink:NamedThing	optic pathway glioma	Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).	mondoexuq1wtf	optic tract glioma|glioma of visual pathway|glioma of the visual pathway|glioma of the optic tract|visual pathway glioma|optic pathway glioma|glioma of optic tract											UMLS:C0796418|ICD10:D33.3|NCIT:C8567|GARD:0004107|Orphanet:2086														https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma				owl:Class
MONDO:0004176	biolink:NamedThing	childhood extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring during childhood.	mondoexuq1wtf	childhood extraskeletal osteosarcoma|pediatric extraosseous osteosarcoma|extraosseous osteosarcoma of childhood|childhood extraosseous osteosarcoma|pediatric extraskeletal osteosarcoma											UMLS:C1332968|NCIT:C27376|DOID:7297																		owl:Class
MONDO:0032836	biolink:NamedThing	weiss-kruszka syndrome		mondoexuq1wtf	WEISS-KRUSZKA SYNDROME|WSKA											OMIM:618619																		owl:Class
MONDO:0004048	biolink:NamedThing	immature gastric teratoma	A malignant teratoma that arises from the stomach.	mondoexuq1wtf	malignant teratoma of stomach|stomach malignant teratoma|malignant gastric teratoma|malignant teratoma of the stomach|immature gastric teratoma											UMLS:C1334151|NCIT:C5256|DOID:6948																		owl:Class
MONDO:0003112	biolink:NamedThing	malignant gastric germ cell tumor	A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.	mondoexuq1wtf	malignant germ cell neoplasm of stomach|malignant gastric germ cell tumor|malignant germ cell neoplasm of the stomach|germ cell tumor of the stomach|malignant germ cell tumor of stomach|malignant germ cell tumor of the stomach|malignant gastric germ cell neoplasm											UMLS:C1334584|UMLS:C1333769|DOID:4716|NCIT:C5486																		owl:Class
MONDO:0022177	biolink:NamedThing	chromosome 13q trisomy		mondoexuq1wtf	Duplication 13q|trisomy 13q											MESH:C535485|UMLS:C0795849																		owl:Class
MONDO:0018504	biolink:NamedThing	undifferentiated carcinoma of stomach	A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.	mondoexuq1wtf	stomach undifferentiated carcinoma|undifferentiated gastric (stomach) cancer|undifferentiated carcinoma of stomach|anaplastic carcinoma of the stomach|anaplastic carcinoma of stomach|undifferentiated carcinoma of the stomach|undifferentiated stomach adenocarcinoma|anaplastic gastric carcinoma|undifferentiated gastric carcinoma|Gastric undifferentiated carcinoma											ICD10:C16.1|ONCOTREE:USTAD|ICD10:C16.4|UMLS:CN237509|ICD10:C16.3|NCIT:C5476|ICD10:C16.6|ICD10:C16.5|UMLS:C1336858|SCTID:766757006|ICD10:C16.8|ICD10:C16.2|ICD10:C16.0|Orphanet:423786																		owl:Class
MONDO:0011174	biolink:NamedThing	hyperzincemia with functional zinc depletion		mondoexuq1wtf	hyperzincemia with functional zinc depletion											OMIM:601979|MESH:C566595|UMLS:C1865986																		owl:Class
MONDO:0011472	biolink:NamedThing	epidermolysis bullosa simplex due to plakophilin deficiency	Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.	mondoexuq1wtf	ectodermal dysplasia-skin fragility syndrome|McGrath syndrome|ectodermal dysplasia/skin fragility syndrome|ectodermal dysplasia - skin fragility syndrome|Mcgrath syndrome|ectodermal dysplasia skin fragility syndrome											Orphanet:158668|GARD:0009705|ICD10:Q81.0|MESH:C536183|UMLS:C1858302|SCTID:716699004|OMIM:604536																		owl:Class
MONDO:0015550	biolink:NamedThing	suprabasal epidermolysis bullosa simplex	A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.	mondoexuq1wtf	epidermis suprabasal layer epidermolysis bullosa simplex|epidermolysis bullosa simplex of epidermis suprabasal layer											ICD10:Q81.0|SCTID:724840004|UMLS:C4511300|Orphanet:158661																		owl:Class
MONDO:0014116	biolink:NamedThing	complex cortical dysplasia with other brain malformations 2	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.	mondoexuq1wtf	CDCBM2|cortical dysplasia, complex, with other brain malformations 2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|KIF5C complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 2|cortical dysplasia, Complex, with Other brain malformations type 2											OMIM:615282|DOID:0090133|UMLS:C3809013																		owl:Class
MONDO:0018585	biolink:NamedThing	pediatric arterial ischemic stroke		mondoexuq1wtf	childhood AIS|childhood arterial ischemic stroke|pediatric AIS											ICD10:I63.5|Orphanet:439175																		owl:Class
MONDO:0005098	biolink:NamedThing	stroke disorder	A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.	mondoexuq1wtf	cerebral infarction|undetermined stroke|CVA|cerebrovascular accident|CVA, cerebrovascular accident|stroke syndrome|cerebrovascular accident, (CVA)|syndrome, stroke|stroke					Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy.						SCTID:230690007|HP:0001297|EFO:0000712|NCIT:C3390|NIFSTD:birnlex_12783|MESH:D020521																		owl:Class
MONDO:0004015	biolink:NamedThing	pineal region teratoma	A mature or immature teratoma that arises in the pineal region.	mondoexuq1wtf	teratoma of the pineal region|teratoma of the pineal area|teratoma of pineal region|pineal area teratoma|teratoma of pineal area											NCIT:C6753|UMLS:C1335419|DOID:6856																		owl:Class
MONDO:0002718	biolink:NamedThing	central nervous system teratoma	A mature or immature teratoma that affects the central nervous system.	mondoexuq1wtf	CNS teratoma|teratoma of central nervous system|central nervous system teratoma|teratoma of the central nervous system|teratoma of the CNS|teratoma of CNS											NCIT:C5441|UMLS:C1332895|Orphanet:252018|DOID:3640																		owl:Class
MONDO:0005189	biolink:NamedThing	internal carotid artery stenosis	Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.	mondoexuq1wtf												SCTID:233964008|Wikipedia:Carotid_artery_stenosis|ICD9:433.10|EFO:0002615																		owl:Class
MONDO:0018191	biolink:NamedThing	tumor of testis and paratestis		mondoexuq1wtf	testicular and paratesticular tumor											Orphanet:363472|UMLS:CN204698																		owl:Class
MONDO:0018062	biolink:NamedThing	autosomal dominant trichoodontoonychodysplasia-syndactyly		mondoexuq1wtf	Trueb Burg Bottani syndrome|ectodermal dysplasia with corkscrew hairs|Trueb-Burg-Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly											Orphanet:3357|GARD:0005376|UMLS:C2931239|MESH:C536565														https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome				owl:Class
MONDO:0012651	biolink:NamedThing	spastic ataxia 2	Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	mondoexuq1wtf	autosomal recessive spastic ataxia type 2|KIF1C spastic ataxia|SPAX2|autosomal recessive spastic paraplegia type 58|spastic ataxia type 2|spastic ataxia caused by mutation in KIF1C|spastic ataxia 2, autosomal recessive|SPG58											OMIM:611302|MESH:C566969|DOID:0050941|ICD10:G11.4|UMLS:C1969796|Orphanet:397946																		owl:Class
MONDO:0021588	biolink:NamedThing	eyelid sebaceous gland carcinoma	A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.	mondoexuq1wtf	carcinoma of sebaceous gland of eyelid|sebaceous gland carcinoma of the eyelid|sebaceous gland of eyelid carcinoma|eyelid SGC|eyelid sebaceous gland carcinoma											NCIT:C134831|UMLS:C4525405																		owl:Class
MONDO:0006327	biolink:NamedThing	ocular sebaceous carcinoma	Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.	mondoexuq1wtf	ocular sebaceous carcinoma|eye sebaceous carcinoma											NCIT:C43340|EFO:1000405|UMLS:C1709308																		owl:Class
MONDO:0001770	biolink:NamedThing	gastrin secretion abnormality		mondoexuq1wtf												COHD:194001|DOID:13656|ICD9:251.5|SCTID:47344007|UMLS:C0000774																		owl:Class
MONDO:0002130	biolink:NamedThing	upper limb mononeuronitis	A disease affecting a single peripheral nerve of the upper limb.	mondoexuq1wtf	mononeuritis of upper limb|mononeuritis of upper limb, unspecified|mononeuritis upper limb|forelimb mononeuritis simplex|mononeuritis simplex of forelimb											DOID:1844|ICD9:354.9																		owl:Class
MONDO:0002121	biolink:NamedThing	mononeuritis simplex	Neuritis of a single nerve.	mondoexuq1wtf	mononeuritis											UMLS:C0235880|DOID:1802|SCTID:32595002|COHD:372309|ICD9:355.9																		owl:Class
MONDO:0021329	biolink:NamedThing	carcinoma of soft palate	A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.	mondoexuq1wtf	soft palate carcinoma|soft palate cancer|carcinoma of the soft palate|carcinoma of soft palate											SCTID:254435009|NCIT:C8395|UMLS:C0345555																		owl:Class
MONDO:0010069	biolink:NamedThing	spondylocostal dysostosis-anal and genitourinary malformations syndrome	Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.	mondoexuq1wtf	Casamassima-Morton-Nance syndrome|spondylocostal dysostosis with anal atresia and urogenital anomalies|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|CMn syndrome											Orphanet:94095|MESH:C564799|ICD10:Q87.8|UMLS:C1849069|OMIM:271520																		owl:Class
MONDO:0017815	biolink:NamedThing	acquired porencephaly	An instance of porencephaly that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired porencephaly											UMLS:C0151860|Orphanet:314697|SCTID:38837006|ICD10:G93.0																		owl:Class
MONDO:0017410	biolink:NamedThing	porencephaly	Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.	mondoexuq1wtf												HP:0002132|GARD:0007430|Orphanet:2940|MedDRA:10036172|MESH:D065708|ICD10:Q04.6|DOID:0060263														https://rarediseases.info.nih.gov/diseases/7430/porencephaly				owl:Class
MONDO:0007412	biolink:NamedThing	Beare-Stevenson cutis gyrata syndrome	Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.	mondoexuq1wtf	cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|Beare-Stevenson cutis gyrata syndrome|cutis gyrata - acanthosis nigricans - craniosynostosis|cutis gyrata syndrome of Beare and Stevenson|Beare Stevenson syndrome|Beare-Stevenson syndrome|BSTVS											OMIM:123790|DOID:0050660|Orphanet:1555|UMLS:C1852406|NCIT:C123813|GARD:0000332|ICD10:Q87.8|SCTID:703528008|MESH:C565129|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome				owl:Class
MONDO:0024649	biolink:NamedThing	optic tract astrocytoma	An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	mondoexuq1wtf	optic tract astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of optic tract|optic tract astrocytoma|visual pathway astrocytoma											UMLS:C1336971|NCIT:C7533																		owl:Class
MONDO:0010118	biolink:NamedThing	Threoninemia		mondoexuq1wtf	hyperthreoninemia|Threoninemia											OMIM:273770																		owl:Class
MONDO:0021493	biolink:NamedThing	benign neoplasm of minor salivary gland	A benign neoplasm that involves the minor salivary gland.	mondoexuq1wtf	benign minor salivary gland neoplasm|minor salivary gland benign neoplasm|benign tumor of the minor salivary gland|benign neoplasm of the minor salivary gland|benign tumor of minor salivary gland|benign minor salivary gland tumor											NCIT:C4411|SCTID:92220004|ICD9:210.4|UMLS:C0345615																		owl:Class
MONDO:0021460	biolink:NamedThing	benign neoplasm of salivary gland	A benign neoplasm that involves the saliva-secreting gland.	mondoexuq1wtf	salivary gland neoplasm, benign|benign salivary gland neoplasm|benign tumor of salivary gland|saliva-secreting gland benign neoplasm|benign neoplasm of the salivary gland|benign tumor of the salivary gland|benign salivary gland tumor											NCIT:C4600|UMLS:C0347206|SCTID:255154009																		owl:Class
MONDO:0017068	biolink:NamedThing	upper thoracic spina bifida aperta		mondoexuq1wtf												Orphanet:268740|UMLS:CN202428																		owl:Class
MONDO:0015145	biolink:NamedThing	neurovascular malformation		mondoexuq1wtf												Orphanet:102006																		owl:Class
MONDO:0003481	biolink:NamedThing	dysgerminoma of ovary	A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.	mondoexuq1wtf	dysgerminoma of the ovary|germ cell dysgerminoma of the ovary|germ cell dysgerminoma of ovary|dysgerminoma of ovary|ovarian dysgerminoma|ovary dysgerminoma (disease)|dysgerminoma|ovarian germ cell dysgerminoma											EFO:1000414|UMLS:C0346185|ONCOTREE:ODYS|SCTID:254874008|DOID:5511|NCIT:C8106																		owl:Class
MONDO:0016940	biolink:NamedThing	partial duplication of the short arm of chromosome 3	Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial trisomy 3p|chromosome 3p duplication|partial trisomy of chromosome 3p|Duplication 3p|partial duplication of chromosome 3p|partial trisomy of the short arm of chromosome 3|3p duplication|3p trisomy|trisomy 3p|partial duplication of the short arm of chromosome type 3											Orphanet:262707|GARD:0005343|MESH:C536811																		owl:Class
MONDO:0015501	biolink:NamedThing	syndrome or malformation associated with head and neck malformations		mondoexuq1wtf												UMLS:CN199635|Orphanet:156237														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0032792	biolink:NamedThing	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy		mondoexuq1wtf	CMT 6C|Charcot-Marie-Tooth Disease, Type 6C|HMSN6C|HMSN 6C|CMT6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy											OMIM:618511																		owl:Class
MONDO:0019551	biolink:NamedThing	hereditary motor and sensory neuropathy type 6		mondoexuq1wtf	CMT6|peripheral neuropathy and optic atrophy|Charcot-Marie-Tooth disease type 6|hereditary motor and sensory neuropathy type 6											Orphanet:90120|UMLS:C0393807|DOID:0080068|ICD10:G60.0																		owl:Class
MONDO:0020845	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5		mondoexuq1wtf	progressive external ophthalmoplegia, autosomal recessive 5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5|PEOB5											OMIM:618098|DOID:0111524																		owl:Class
MONDO:0000090	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions		mondoexuq1wtf	progressive external ophthalmoplegia with mtDNA deletions											OMIMPS:157640|DC:0000373|UMLS:CN239267																		owl:Class
MONDO:0041879	biolink:NamedThing	staphylococcus aureus pneumonia	An pneumonia caused by infection with Staphylococcus aureus.	mondoexuq1wtf	Staphylococcus aureus caused pneumonia|pneumonia due to staphylococcus aureus|Staphylococcus aureus pneumonia|pneumonia caused by staphylococcus aureus|staphylococcus aureus pneumonia											SCTID:441658007																		owl:Class
MONDO:0005545	biolink:NamedThing	staphylococcus aureus infection	An infectious process in which the bacteria Staphylococcus aureus is present.	mondoexuq1wtf												SCTID:406602003|EFO:0005681|NCIT:C122576																		owl:Class
MONDO:0019172	biolink:NamedThing	aniridia	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).	mondoexuq1wtf	aplasia of iris											GARD:0005816|MedDRA:10002532|Orphanet:77|DOID:12271|SCTID:69278003|MESH:D015783|NCIT:C84563|ICD10:Q13.1|ICD9:743.45|UMLS:C0003076														https://rarediseases.info.nih.gov/diseases/5816/aniridia				owl:Class
MONDO:0007438	biolink:NamedThing	dentin dysplasia-sclerotic bones syndrome	Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.	mondoexuq1wtf	sclerotic bones with dentin dysplasia|dentin dysplasia sclerotic bones|dentin dysplasia with sclerotic bones											ICD10:K00.5|OMIM:125440|GARD:0001808|MESH:C538213|UMLS:C1852201|Orphanet:99792																		owl:Class
MONDO:0005623	biolink:NamedThing	autoimmune thyroid disease	Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.	mondoexuq1wtf	lymphomatous thyroiditides|autoimmune thyroid gland inflammation|lymphocytic thyroiditis|lymphomatous thyroiditis|thyroiditides, lymphomatous|lymphocytic thyroiditides|thyroiditis, lymphocytic|thyroiditides, lymphocytic|autoimmune thyroiditides|thyroiditides, autoimmune|thyroiditis, lymphomatous|autoimmune thyroiditis					Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015)						Wikipedia:Autoimmune_thyroiditis|GARD:0006945|EFO:0006812|MESH:D013967																		owl:Class
MONDO:0004126	biolink:NamedThing	thyroiditis	Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.	mondoexuq1wtf	inflammation of thyroid gland|thyroiditis (disease)|thyroid gland inflammation|thyroiditis		thyroiditis (disease)									ICD9:245|ICD9:245.9|SCTID:82119001|COHD:133444|DOID:7166|ICD10:E06.9|MESH:D013966|UMLS:C0040147|NCIT:C26894|ICD10:E06|HP:0100646																		owl:Class
MONDO:0015568	biolink:NamedThing	isolated congenital nasal pyriform aperture stenosis		mondoexuq1wtf	isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia											ICD10:Q30.8|Orphanet:162516																		owl:Class
MONDO:0012399	biolink:NamedThing	complex cortical dysplasia with other brain malformations 7	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.	mondoexuq1wtf	polymicrogyria due to TUBB2B mutation|TUBB2B complex cortical dysplasia with other brain malformations|polymicrogyria, symmetric or asymmetric|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|PMGYSA|complex cortical dysplasia with other brain malformations type 7|cortical dysplasia, Complex, with Other brain malformations 7|cortical dysplasia, COMPLEX, with OTHER brain malformations 7|CDCBM7											Orphanet:300573|OMIM:610031|UMLS:CN203403|ICD10:Q04.3|DOID:0090132|GARD:10783																		owl:Class
MONDO:0008463	biolink:NamedThing	split-hand and split-foot with hypodontia		mondoexuq1wtf	split-hand and split-foot with hypodontia											MESH:C566665|UMLS:C1866742|OMIM:183500																		owl:Class
MONDO:0004423	biolink:NamedThing	central nervous system extraskeletal osteosarcoma	An osteosarcoma arising from the brain or spinal cord.	mondoexuq1wtf	osteosarcoma of the central nervous system|central nervous system extraskeletal osteosarcoma|central nervous system osteosarcoma (disease)|osteosarcoma of central nervous system|central nervous system osteosarcoma											NCIT:C7002|UMLS:C1335150|DOID:7994																		owl:Class
MONDO:0006987	biolink:NamedThing	subvalvular aortic stenosis	An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.	mondoexuq1wtf												MESH:D001020|DOID:5805|UMLS:C0340375|EFO:1001199|SCTID:204368006|GARD:0005052|MedDRA:10042431														https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis				owl:Class
MONDO:0004978	biolink:NamedThing	aortic stenosis	In the same amount or manner; to the same degree; in the role, function, or capacity of.	mondoexuq1wtf	aortic valve stenosis|rheumatic aortic stenosis|aortic stenosis|AS|rheumatic aortic valve stenosis											UMLS:C0155567|ICD9:395.0|EFO:0000266|ICD10:Q23.0|ICD9:746.3|ICD10:I06.0|DOID:1712																		owl:Class
MONDO:0012588	biolink:NamedThing	neuronal ceroid lipofuscinosis 7	Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	mondoexuq1wtf	neuronal ceroid lipofuscinosis type 7|MFSD8 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 7|CLN7|CLN7 disease|CLN7 disease, late infantile|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|ceroid lipofuscinosis, neuronal, type 7											MESH:C563989|GARD:0001220|Orphanet:228366|ICD10:E75.4|DOID:0110722|OMIM:610951														https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7				owl:Class
MONDO:0017780	biolink:NamedThing	20p13 microdeletion syndrome	20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	mondoexuq1wtf	Del(20)(p13)|20p subtelomeric deletion syndrome|monosomy 20p13											ICD10:Q93.5|Orphanet:313781|UMLS:CN203720																		owl:Class
MONDO:0015702	biolink:NamedThing	T-B+ severe combined immunodeficiency due to CD45 deficiency		mondoexuq1wtf	CD45 deficiency|T-B+ SCID due to CD45 deficiency											DOID:0060014|Orphanet:169157|ICD10:D81.2																		owl:Class
MONDO:0044200	biolink:NamedThing	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.	mondoexuq1wtf	T-B+ SCID|T-cell negative B-cell positive SCID					Editor note: add logical definition						ICD10:D81.2|Orphanet:317416																		owl:Class
MONDO:0010425	biolink:NamedThing	Lisch epithelial corneal dystrophy	Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.	mondoexuq1wtf	band-Shaped and whorled microcystic corneal epithelial dystrophy|corneal dystrophy, Lisch epithelial|band-shaped and whorled microcystic|LECD|Lisch epithelial corneal dystrophy|band-shaped and whorled microcystic dystrophy of the corneal epithelium											UMLS:C2749050|ICD10:H18.5|SCTID:724175002|DOID:0060450|OMIM:300778|Orphanet:98955|MESH:C567588																		owl:Class
MONDO:0020212	biolink:NamedThing	superficial corneal dystrophy	The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.	mondoexuq1wtf	anterior corneal dystrophy|corneal epithelium corneal dystrophy (disease)|dystrophy of anterior cornea											SCTID:430888006|Orphanet:98625|ICD9:371.52|UMLS:C2315777|ICD10:H18.5																		owl:Class
MONDO:0016860	biolink:NamedThing	familial adenomatous polyposis due to 5q22.2 microdeletion		mondoexuq1wtf	familial adenomatous polyposis due to monosomy 5q22.2|colorectal adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2)											ICD10:D12.6|UMLS:CN202203|Orphanet:261584																		owl:Class
MONDO:0024301	biolink:NamedThing	acquired mineral metabolism disease	An instance of mineral metabolism disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	mineral metabolism disease|acquired mineral metabolism disease											DOID:0050032																		owl:Class
MONDO:0004482	biolink:NamedThing	fibroosseous pseudotumor of the digits	A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.	mondoexuq1wtf	fibroosseous digital pseudotumor|fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits											SCTID:403991009|NCIT:C6573|ICD9:215.9|UMLS:C1333612|DOID:8153																		owl:Class
MONDO:0012210	biolink:NamedThing	migraine with aura, susceptibility to, 7		mondoexuq1wtf	migraine with aura, susceptibility to, type 7|Mgr7|migraine with aura, susceptibility to, 7											OMIM:609179|UMLS:C1836670																		owl:Class
MONDO:0008089	biolink:NamedThing	neutropenia, chronic familial		mondoexuq1wtf	neutropenia chronic familial|leukopenia, benign familial|leukopenia benign familial|chronic familial neutropenia|neutropenia, chronic familial											GARD:0003983|MESH:C535815|UMLS:C3665676|SCTID:234576008|OMIM:162700|ICD9:288.09														https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial				owl:Class
MONDO:0002551	biolink:NamedThing	c-P angle neurinoma		mondoexuq1wtf	cerebellar Pontine angle neurinoma|cerebellopontine angle neurinoma|cerebellopontine angle schwannoma											NCIT:C5413|UMLS:C1332905|DOID:3199																		owl:Class
MONDO:0002553	biolink:NamedThing	cerebellopontine angle tumor	A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.	mondoexuq1wtf	tumor of cerebellopontine angle|tumor of the C-P angle|cerebellopontine angle tumor|neoplasm of the cerebellar Pontine angle|neoplasm of cerebellopontine angle|C-P angle neoplasm|tumor of C-P angle|cerebellar Pontine angle neoplasm|neoplasm of C-P angle|cerebellopontine angle neoplasm (disease)|tumor of cerebellar Pontine angle|tumor of the cerebellar Pontine angle|cerebellar Pontine angle tumor|tumor of the cerebellopontine angle|cerebellopontine angle neoplasm|C-P angle tumor|neoplasm of cerebellar Pontine angle|neoplasm of the cerebellopontine angle|neoplasm of the C-P angle											DOID:3200|NCIT:C5414|SCTID:126947009																		owl:Class
MONDO:0002882	biolink:NamedThing	colon neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	colon neuroendocrine tumor|colon neuroendocrine neoplasm|neuroendocrine neoplasm of the colon|colonic neuroendocrine neoplasm|colonic neuroendocrine tumor|colon neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of colon|neuroendocrine tumor of the colon|colon NET											DOID:4118|UMLS:C1333097|NCIT:C5697|Orphanet:100080																		owl:Class
MONDO:0002883	biolink:NamedThing	intestinal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	neuroendocrine neoplasm of intestine|intestine neuroendocrine tumor, well differentiated, low or intermediate grade|intestinal neuroendocrine neoplasm|neuroendocrine neoplasm of the intestine|intestine neuroendocrine neoplasm|intestine neuroendocrine tumor|neuroendocrine tumor of intestine|intestinal neuroendocrine benign tumor|intestine NET											UMLS:C1334231|DOID:4119|NCIT:C5695																		owl:Class
MONDO:0008844	biolink:NamedThing	Athrombia, essential		mondoexuq1wtf	Athrombia, essential											UMLS:C1859595|MESH:C565927|OMIM:209050																		owl:Class
MONDO:0021627	biolink:NamedThing	eyelid capillary hemangioma	A capillary hemangioma arising from the eyelid.	mondoexuq1wtf	capillary angioma of the lid|capillary angioma of eyelid|capillary hemangioma of the lid|capillary hemangioma of lid|eyelid capillary hemangioma|capillary angioma of the eyelid|capillary hemangioma of eyelid|eyelid capillary angioma|capillary angioma of lid|capillary hemangioma of the eyelid											SCTID:231828003|NCIT:C4357|UMLS:C0339110																		owl:Class
MONDO:0012703	biolink:NamedThing	lissencephaly due to TUBA1A mutation	Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	mondoexuq1wtf	lissencephaly 3|LIS3|lissencephaly type 3											MESH:C566908|NCIT:C148461|OMIM:611603|ICD10:Q04.3|Orphanet:171680|UMLS:CN200289																		owl:Class
MONDO:0015148	biolink:NamedThing	lissencephaly type 3		mondoexuq1wtf												ICD10:Q04.3|Orphanet:102011																		owl:Class
MONDO:0016226	biolink:NamedThing	specific language disorder		mondoexuq1wtf	dysphasia											Orphanet:211053|UMLS:CN200992																		owl:Class
MONDO:0016225	biolink:NamedThing	specific learning disability	Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)	mondoexuq1wtf	specific learning difficulty|specific learning disorder											MESH:D000067559|UMLS:CN226885|Orphanet:211047																		owl:Class
MONDO:0011903	biolink:NamedThing	Charcot-Marie-Tooth disease type 2J	Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	mondoexuq1wtf	autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|CMT 2J|Charcot Marie Tooth disease type 2J|CMT2J|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth neuropathy, type 2J|Charcot-Marie-Tooth neuropathy type 2J											GARD:0009198|SCTID:717014003|OMIM:607736|ICD10:G60.0|DOID:0110157|Orphanet:99943|MESH:C535417														https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j				owl:Class
MONDO:0011909	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate D	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	mondoexuq1wtf	Di-Cmtd|Charcot-Marie-Tooth disease caused by mutation in MPZ|Charcot Marie Tooth disease dominant intermediate 3|Charcot-Marie-Tooth disease, dominant Intermediate type D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, dominant intermediate D|MPZ Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy dominant intermediate D|Charcot-Marie-Tooth neuropathy, dominant Intermediate D|DI-CMTD|Charcot-Marie-Tooth disease dominant intermediate type D|CMTDID											UMLS:C1843075|GARD:0009207|Orphanet:100046|DOID:0110200|MESH:C564333|ICD10:G60.0|SCTID:765747004|OMIM:607791																		owl:Class
MONDO:0010015	biolink:NamedThing	anterior segment dysgenesis 7	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.	mondoexuq1wtf	anterior segment dysgenesis caused by mutation in PXDN|anterior segment dysgenesis 7|ASGD7|congenital cataract microcornea with corneal opacity|sclerocornea with Other ocular anomalies|CCMCO|sclerocornea with other ocular anomalies|corneal opacification and other ocular anomalies|corneal opacification with Other ocular anomalies|corneal opacification with other ocular anomalies|COPOA|PXDN anterior segment dysgenesis										MONDO:0000817	Orphanet:289499|UMLS:C3151617|OMIM:269400|DOID:0060648																		owl:Class
MONDO:0010217	biolink:NamedThing	de Sanctis-Cacchione syndrome	A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.	mondoexuq1wtf	de Sanctis-Cacchione syndrome|xerodermic idiocy											OMIM:278800|Orphanet:1569|ICD9:759.89|UMLS:CN199649|GARD:0008276|SCTID:414673004|MESH:C535992|UMLS:C0265201|NCIT:C84666														https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome				owl:Class
MONDO:0043364	biolink:NamedThing	eosinophil peroxidase deficiency	A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.	mondoexuq1wtf	Presentey anomaly|eosinophil peroxidase deficiency, partial|peroxidase and phospholipid deficiency in eosinophils|eosinophil peroxidase deficiency|eosinophil peroxidase deficiency, Partial|EPXD|presentey anomaly											UMLS:C1850000|SCTID:711160007|MESH:C564893|OMIM:261500|GARD:0012361																		owl:Class
MONDO:0008337	biolink:NamedThing	familial pterygium of the conjunctiva	Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	mondoexuq1wtf	pterygium of the conjunctiva and cornea|pterygium of conjunctiva and cornea											Orphanet:2989|GARD:0004569|MESH:C566740|UMLS:C1867441|ICD10:H11.0|OMIM:178000																		owl:Class
MONDO:0005085	biolink:NamedThing	pterygium	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.	mondoexuq1wtf	surfer's eye|pterygium of conjunctiva and cornea											ICD10:H11.0|ICD10:H11.009|ICD10:H11.00|SCTID:77489003|EFO:0000678|MESH:D011625|ICD9:372.40|DOID:0002116|UMLS:C0033999|ICD9:372.4|NCIT:C133744|COHD:375552																		owl:Class
MONDO:0015795	biolink:NamedThing	undifferentiated embryonal sarcoma of the liver	Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.	mondoexuq1wtf	undifferentiated sarcoma of the liver|embryonal sarcoma of the liver|UES											SCTID:716648006|ONCOTREE:UESL|Orphanet:178315																		owl:Class
MONDO:0024477	biolink:NamedThing	liver and intrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.	mondoexuq1wtf	liver and intrahepatic bile duct neoplasm|hepatic and intrahepatic bile duct neoplasm											UMLS:C1333976|NCIT:C7103																		owl:Class
MONDO:0011619	biolink:NamedThing	crumpled helices and small mouth		mondoexuq1wtf	crumpled helices and small mouth|sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay											OMIM:605945|GARD:0010078|UMLS:C1853826|MESH:C536217														https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth				owl:Class
MONDO:0016358	biolink:NamedThing	limited cutaneous systemic sclerosis	Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.	mondoexuq1wtf	limited cutaneous systemic scleroderma											ICD10:M34.1|SCTID:298285004|Orphanet:220402|GARD:0001053																		owl:Class
MONDO:0014572	biolink:NamedThing	Lichtenstein-Knorr syndrome		mondoexuq1wtf	autosomal recessive spinocerebellar ataxia 19|LIKNS|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|SCAR19|Lichtenstein-Knorr syndrome|autosomal recessive spinocerebellar ataxia type 19|spinocerebellar ataxia, autosomal recessive 19|progressive autosomal recessive ataxia-deafness syndrome											UMLS:C4225383|ICD10:G11.1|OMIM:616291|DOID:0080065|Orphanet:448251																		owl:Class
MONDO:0005766	biolink:NamedThing	fungal lung infectious disease	Pulmonary diseases caused by fungal infections, usually through hematogenous spread.	mondoexuq1wtf	pulmonary fungal infections|Fungi lung disease|fungal infections, pulmonary|lung disease, fungal|Fungi caused lung disease|fungal diseases, pulmonary|fungal lung diseases|fungal disease, pulmonary|pulmonary fungal diseases|fungal lung disease|fungal infection, pulmonary|pulmonary fungal disease|pulmonary fungal infection											MESH:D008172|EFO:0007278|UMLS:C0024116																		owl:Class
MONDO:0007522	biolink:NamedThing	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.	mondoexuq1wtf	EDS I|classical Ehlers-Danlos syndrome|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, gravis type, formerly|Ehlers-Danlos syndrome, gravis type|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers-Danlos syndrome, type II, formerly|Ehlers-Danlos syndrome, type I|Ehlers Danlos syndrome, mild classic type|EDS II|Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, severe classic type|Ehlers-Danlos syndrome classic type|Ehlers-Danlos syndrome, type II|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome type 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome type 1 (formerly)|EDS II, formerly|Ehlers-Danlos syndrome type 2 (formerly)|EDS I, formerly|classic Ehlers-Danlos syndrome|Ehlers Danlos syndrome, mitis type, formerly|EDS, classic type											ICD10:Q79.6|Orphanet:287|SCTID:715318006|GARD:0002088|UMLS:C4225429																		owl:Class
MONDO:0020066	biolink:NamedThing	Ehlers-Danlos syndrome	The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.	mondoexuq1wtf	Meekeren-Ehlers-Danlos syndrome|EDS|Hereditary collagen dysplasia|ED syndrome|Disease, Ehlers Danlos|Syndrome, Ehlers-Danlos|elastic skin|danlos ehlers syndrome|Ehler Danlos Syndrome|Ehlers-Danlos Disease|Dystrophia mesodermalis congenita|Ehlers Danlos syndrome|Ehlers Danlos Disease|Danlos Disease, Ehlers|Fibrodysplasia elastica generalisata|skin elastic|Danlos disease|Disease, Ehlers-Danlos|Ehlers-Danlos syndromes											NCIT:C34568|UMLS:C0013720|MedDRA:10014316|OMIMPS:130000|DOID:13359|GARD:0006322|ICD9:756.83|SCTID:398114001|MESH:D004535|ICD10:Q79.6|Orphanet:98249|COHD:79145								India rubber skin|Cutis hyperelastica										owl:Class
MONDO:0007537	biolink:NamedThing	lateral meningocele syndrome		mondoexuq1wtf	LMNS|Lehman syndrome|Lms|lateral meningocele syndrome											DOID:0111343|ICD10:Q87.5|GARD:0009873|OMIM:130720|MESH:C537878|Orphanet:2789|UMLS:C1851710																		owl:Class
MONDO:0018775	biolink:NamedThing	axonal hereditary motor and sensory neuropathy		mondoexuq1wtf	axonal HMSN											Orphanet:476109																		owl:Class
MONDO:0015626	biolink:NamedThing	Charcot-Marie-Tooth disease	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.	mondoexuq1wtf	hereditary sensorimotor neuropathy|Charcot-Marie-Tooth hereditary neuropathy|Charcot Marie Tooth disease|peroneal muscular atrophy|CMT/HMSN|CMT|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease|Charcot Marie Tooth muscular atrophy|hereditary motor and sensory neuropathy|CMT - Charcot-Marie-Tooth disease											ICD10:G60.0|MedDRA:10034699|DOID:10595|NCIT:C75467|GARD:0006034|MESH:D002607|UMLS:C0007959|ICD9:356.1|Orphanet:166|OMIMPS:118220																		owl:Class
MONDO:0011307	biolink:NamedThing	schizophrenia 2	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.	mondoexuq1wtf	SCZD2|schizophrenia 2|schizophrenia susceptibility locus, chromosome 11Q-related											UMLS:C1864010|DOID:0070078|OMIM:603342																		owl:Class
MONDO:0009239	biolink:NamedThing	hypogonadotropic hypogonadism 24 without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.	mondoexuq1wtf	isolated follicle stimulating hormone deficiency|isolated follicle-stimulating hormone (FSH) deficiency|hypogonadotropic hypogonadism 24 without anosmia|isolated follicle-stimulating hormone deficiency|follicle-stimulating hormone deficiency, isolated|isolated FSH deficiency|FSHB hypogonadotropic hypogonadism|HH24|hypogonadotropic hypogonadism caused by mutation in FSHB											OMIM:229070|GARD:0010128|SCTID:758664007|Orphanet:52901|MESH:C537070|ICD10:E23.6|DOID:0090088|UMLS:C1856716																		owl:Class
MONDO:0014706	biolink:NamedThing	cutis laxa, autosomal dominant 3	An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.	mondoexuq1wtf	autosomal dominant cutis laxa 3|ADCL3|cutis laxa, autosomal dominant type 3|cutis laxa, autosomal dominant 3											UMLS:C4225268|OMIM:616603|DOID:0070131|ICD10:Q82.8																		owl:Class
MONDO:0019571	biolink:NamedThing	autosomal dominant cutis laxa	Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.	mondoexuq1wtf	cutis laxa, autosomal dominant|ADCL											DOID:0070142|SCTID:111388003|UMLS:C0268350|Orphanet:90348|ICD10:Q82.8|GARD:0001639|MESH:C562627														https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant				owl:Class
MONDO:0012142	biolink:NamedThing	orofacial cleft 5	Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.	mondoexuq1wtf	cleft lip with or without cleft palate, nonsyndromic, 5|orofacial cleft 5|orofacial cleft caused by mutation in MSX1|OFC5|orofacial cleft type 5|MSX1 orofacial cleft											OMIM:608874|DOID:0080399|UMLS:C1837210|MESH:C563843																		owl:Class
MONDO:0015420	biolink:NamedThing	cleft lip and alveolus	Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.	mondoexuq1wtf												ICD10:Q36.0|Orphanet:141291|ICD10:Q36.9|ICD10:Q36.1|SCTID:373643003|ICD9:525.8																		owl:Class
MONDO:0014196	biolink:NamedThing	Hartsfield-Bixler-Demyer syndrome		mondoexuq1wtf	holoprosencephaly-ectrodactyly-cleft lip palate syndrome|holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|HARTSFIELD syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|HRTFDS											SCTID:766032007|Orphanet:2117|UMLS:C1845146|OMIM:615465|MESH:C564484|ICD10:Q87.8																		owl:Class
MONDO:0017318	biolink:NamedThing	phakomatosis pigmentovascularis		mondoexuq1wtf	port-wine stain with oculocutaneous melanosis|PPv|Phacomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|phakomatosis pigmentovascularis											Orphanet:2875|ICD10:Q85.8|MESH:C537894|SCTID:403545005|ICD9:709.09|GARD:0004312																		owl:Class
MONDO:0019928	biolink:NamedThing	48,XXXY syndrome	The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.	mondoexuq1wtf	48, XXXY syndrome|XXXY syndrome											GARD:0005676|MedDRA:10048228|NCIT:C89799|ICD10:Q98.1|SCTID:78317008|Orphanet:96263|UMLS:C0265498|ICD9:758.81														https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome				owl:Class
MONDO:0012919	biolink:NamedThing	type 1 diabetes mellitus 20	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.	mondoexuq1wtf	HNF1A type 1 diabetes mellitus|IDDM20|diabetes mellitus, insulin-dependent, 20|type 1 diabetes mellitus caused by mutation in HNF1A|insulin-dependent diabetes mellitus 20|diabetes mellitus, insulin-dependent, type 20											DOID:0110757|UMLS:C2675866|MESH:C567286|OMIM:612520|ICD10:E10																		owl:Class
MONDO:0011271	biolink:NamedThing	rigid spine muscular dystrophy 1	An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.	mondoexuq1wtf	multiminicore disease, Severe classic form|congenital merosin-positive muscular dystrophy with early spine rigidity|minicore myopathy, Severe classic form|Eichsfeld type congenital muscular dystrophy|severe classic form multicore myopathy|desmin-related myopathy with Mallory bodies|classic MmD|MDRS1|muscular dystrophy, congenital, Eichsfeld type|classic multiminicore myopathy|RSMD1|rigid spine syndrome caused by mutation in SELENON|SEPN1-related myopathy|severe classic form minicore myopathy|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|rigid spine muscular dystrophy 1|RSS|multicore myopathy, Severe classic form|SELENON rigid spine syndrome|myopathy, Sepn1-related|rigid spine syndrome|severe classic form multiminicore disease|rigid spine muscular dystrophy type 1|classic multiminicore disease											DOID:0110633|ICD10:G71.8|NCIT:C126691|SCTID:240063002|ICD10:G71.2|OMIM:602771|UMLS:C0410180																		owl:Class
MONDO:0010239	biolink:NamedThing	lissencephaly type 1 due to doublecortin gene mutation	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.	mondoexuq1wtf	LISX|subcortical laminar heterotopia, X-linked,|X-linked lissencephaly|lissencephaly and agenesis of corpus callosum|Dc syndrome|Xlis|lissencephaly, X-linked, 1|lissencephaly, X-linked, type 1|subcortical band heterotopia, X-linked|Double cortex syndrome|X-linked lissencephaly type 1|XLIS|LISX1|lissencephaly X-linked|subcortical laminar heterotopia, X-linked											OMIM:300067|GARD:0006914|ICD10:Q04.3|UMLS:C1848199|SCTID:715780008|UMLS:C4275012|Orphanet:2148														https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked				owl:Class
MONDO:0020491	biolink:NamedThing	subcortical band heterotopia	A developmental brain abnormality characterized by atypical migration of neurons during cortical development.	mondoexuq1wtf	band heterotopia|subcortical laminar heterotopia|familial band heterotopia|HeCo|double cortex syndrome|heterotopic cortex|Double cortex					Editor note: check this hierarchy						GARD:0001904|DOID:0111169|GARD:0002250|UMLS:C4284594|NCIT:C116933|UMLS:C1848201|ICD10:Q04.3|Orphanet:99796														https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia				owl:Class
MONDO:0016105	biolink:NamedThing	acquired skeletal muscle disease	An instance of skeletal muscle disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired skeletal muscle disease											UMLS:CN200878|Orphanet:206638																		owl:Class
MONDO:0005297	biolink:NamedThing	urethritis	Inflammation of the urethra.	mondoexuq1wtf	non-gonococcal urethritis|urethritis (disease)|urethra inflammation|Nongonococcal urethritis|inflammation of urethra|urethritis		urethritis (disease)									COHD:195862|ICD9:597.80|SCTID:84619001|HP:0500006|MESH:D014526|EFO:0003878|DOID:1343|ICD9:099.40|NCIT:C26904|ICD10:N34.2																		owl:Class
MONDO:0005247	biolink:NamedThing	bacterial urinary tract infection	A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.	mondoexuq1wtf	tract, infection Of urinary|infection, urinary tract|urinary tract infection|bacterial urinary tract infection (disease)|UTI|urinary tract infection (disease)|urinary tract infectious disease		bacterial urinary tract infection (disease)									SCTID:68566005|ICD9:599.0|EFO:0003103|NCIT:C50791																		owl:Class
MONDO:0008709	biolink:NamedThing	acrocephalopolydactyly	Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.	mondoexuq1wtf	Elejalde syndrome|acrocephalopolydactylous dysplasia					Editor note: check GARD						ICD10:Q87.0|GARD:0002096|Orphanet:221054|UMLS:CN201238|OMIM:200995|MESH:C573722|GARD:0000486|SCTID:720417003|UMLS:C3495588																		owl:Class
MONDO:0017785	biolink:NamedThing	PENS syndrome	PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.	mondoexuq1wtf	papular epidermal nevi with skyline basal cell layers syndrome											UMLS:CN203735|Orphanet:313936																		owl:Class
MONDO:0014288	biolink:NamedThing	Joubert syndrome 21	Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.	mondoexuq1wtf	Joubert syndrome type 21|Joubert syndrome caused by mutation in CSPP1|CSPP1 Joubert syndrome|JBTS21|Joubert syndrome 21											UMLS:C3810212|DOID:0110990|OMIM:615636																		owl:Class
MONDO:0018342	biolink:NamedThing	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.	mondoexuq1wtf	Joubert syndrome with JATD|JBTS with JATD											SCTID:733418003|UMLS:CN225944|UMLS:C4518774|ICD10:Q04.3|Orphanet:397715																		owl:Class
MONDO:0024388	biolink:NamedThing	Clostridium infectious disease	Infections with bacteria of the genus clostridium.	mondoexuq1wtf	commensal infection, Clostridium|infections, Clostridium|Clostridium infection|commensal Clostridium infection|commensal infections, Clostridium|infection, Clostridium										MONDO:0006707	EFO:1000874|SCTID:56688005|ICD9:040.89|MESH:D003015																		owl:Class
MONDO:0016594	biolink:NamedThing	superficial siderosis	Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.	mondoexuq1wtf	superficial siderosis of the CNS|hemosiderosis of the central nervous system|superficial hemosiderosis of the CNS|superficial siderosis of the central nervous system|superficial hemosiderosis of the central nervous system											ICD10:I69.0|Orphanet:247245|GARD:0009484																		owl:Class
MONDO:0022740	biolink:NamedThing	Christian Johnson angenieta syndrome		mondoexuq1wtf												GARD:0001316														https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome				owl:Class
MONDO:0007124	biolink:NamedThing	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.	mondoexuq1wtf	ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|Rapp-Hodgkins syndrome|ankyloblepharon-ectodermal defects-cleft LIP/palate|ankyloblepharon ectodermal defects cleft lip/palate|AEC syndrome|hay-Wells syndrome|Seres-Santamaria Arimany Muniz syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|Aec syndrome											DOID:0090119|MESH:C535847|GARD:0006571|ICD10:Q82.4|GARD:0004805|Orphanet:1071|SCTID:55821006|OMIM:106260																		owl:Class
MONDO:0011880	biolink:NamedThing	candidiasis, familial, 3		mondoexuq1wtf	Fcnc|candidiasis, familial chronic nail, with Icam1 deficiency|candidiasis, familial, 3|CANDF3											OMIM:607644|UMLS:C1843306|MESH:C564361																		owl:Class
MONDO:0001202	biolink:NamedThing	prostatic cyst		mondoexuq1wtf	cyst of prostate											UMLS:C1443972|ICD10:N42.83|ICD9:599.89|DOID:11133|SCTID:409658007|ICD9:600.3|COHD:201617																		owl:Class
MONDO:0013502	biolink:NamedThing	amyloidosis, primary localized cutaneous, 2		mondoexuq1wtf	amyloidosis, primary localized cutaneous, type 2|amyloidosis, primary localized cutaneous, 2|PLCA2											UMLS:C3151404|OMIM:613955																		owl:Class
MONDO:0007101	biolink:NamedThing	familial primary localized cutaneous amyloidosis		mondoexuq1wtf	FPLCA|hereditary primary cutaneous amyloidosis|primary localized cutaneous amyloidosis											ICD10:L99.0*|OMIMPS:105250|Orphanet:353220|ICD10:E85.4+|UMLS:CN204529|MESH:C562643																		owl:Class
MONDO:0017029	biolink:NamedThing	Langerhans cell histiocytosis specific to adulthood	Langerhans cell histiocytosis that occurs during adulthood.	mondoexuq1wtf	adult Langerhans cell histiocytosis|Langerhans cell granulomatosis specific to adulthood|histiocytosis X specific to adulthood|Langerhans cell histiocytosis											Orphanet:264750|UMLS:C3900100|NCIT:C114929																		owl:Class
MONDO:0009265	biolink:NamedThing	Gaucher disease type I	Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.	mondoexuq1wtf	Gba deficiency|Gaucher disease, type I|Gaucher disease type 1|Gaucher's disease type I|Gaucher disease, noncerebral juvenile|Gaucher disease, type 1|Gd 1|acid Beta-glucosidase deficiency|GD I|non-cerebral juvenile Gaucher disease											ICD10:E75.2|GARD:0002441|OMIM:230800|Orphanet:77259|DOID:0110957																		owl:Class
MONDO:0003756	biolink:NamedThing	ovarian mucinous neoplasm	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	mondoexuq1wtf	mucinous tumor of ovary|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous neoplasm of ovary|ovarian mucinous neoplasm|mucinous tumor of the ovary|ovarian mucinous tumor											NCIT:C5242|UMLS:C1335168|DOID:6067																		owl:Class
MONDO:0021994	biolink:NamedThing	Berk-Tabatznik syndrome		mondoexuq1wtf	short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges|cleft nare, brachydactyly, short stature-dwarfism|congenital optic atrophy and brachytelephalangy|kyphosis brachyphalangy optic atrophy|cleft nare, brachydactyly, short stature dwarfism|Berk Tabatznik syndrome											UMLS:C2930899|GARD:0005109|MESH:C535432														https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome				owl:Class
MONDO:0021004	biolink:NamedThing	brachydactyly	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.	mondoexuq1wtf	brachydactyly|brachydactyly (disease)		brachydactyly (disease)									DOID:0050581|MESH:D059327|HP:0001156																		owl:Class
MONDO:0023283	biolink:NamedThing	ovarian granulosa cell tumor	A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.	mondoexuq1wtf	granulosa cell neoplasm of ovary|ovarian granulosa cell tumor|adult granulosa cell tumor of the ovary|granulosa cell tumor of the ovary|ovary granulosa cell tumor|granulosa cell tumor of ovary|granulosa theca cell tumor|ovarian granulosa cell neoplasm|granulosa theca cell tumor of the ovary|granulosa cell neoplasm of the ovary|GCT of the ovary											MESH:C537296|UMLS:C1370419|EFO:1000421|NCIT:C6261|SCTID:254863004																		owl:Class
MONDO:0042902	biolink:NamedThing	Say-Carpenter syndrome		mondoexuq1wtf	Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias											GARD:0000240																		owl:Class
MONDO:0023573	biolink:NamedThing	Kozlowski Warren Fisher syndrome		mondoexuq1wtf	cloverleaf skull generalised bone dysplasia											UMLS:C2931546|MESH:C537614|GARD:0000353														https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome				owl:Class
MONDO:0017042	biolink:NamedThing	thanatophoric dysplasia	Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.	mondoexuq1wtf	dwarfism thanatophoric|Td|thanatophoric dwarfism											ICD9:259.4|ICD10:Q77.1|NCIT:C85187|MedDRA:10049808|MESH:D013796|UMLS:C0039743|DOID:13481|Orphanet:2655|GARD:0000085|SCTID:29352008																		owl:Class
MONDO:0022025	biolink:NamedThing	boylan dew greco syndrome		mondoexuq1wtf	congenital hypomyelination neuropathy with arthrogryposis multiplex congenita											UMLS:C2931419|GARD:0000954|MESH:C537083														https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome				owl:Class
MONDO:0002562	biolink:NamedThing	demyelinating disease	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.	mondoexuq1wtf	demyelinating disorder											UMLS:C0011303|MESH:D003711|ICD10:G35.G37|NCIT:C34527|DOID:3213																		owl:Class
MONDO:0014243	biolink:NamedThing	Schaaf-Yang syndrome		mondoexuq1wtf	Prader-Willi syndrome due to point mutation|PWS due to a point mutation|Prader-Willi-like syndrome|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|SHFYNG|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies|Schaaf-Yang syndrome|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|Chitayat-Hall syndrome											MESH:C535385|OMIM:208080|GARD:0010087|GARD:0013316|Orphanet:398069|OMIM:615547|UMLS:C1859724|UMLS:C3809877|ICD10:Q87.1														https://github.com/monarch-initiative/mondo/issues/3338				owl:Class
MONDO:0008300	biolink:NamedThing	Prader-Willi syndrome	Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.	mondoexuq1wtf	Prader Willi syndrome|Prader-Labhart-Willi syndrome|Willi-Prader syndrome|Prader-Willi-Labhart syndrome|Prader-Willi syndrome chromosome region|Prader-Willi syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|PWS|Prader-Willi-like syndrome associated with chromosome 6|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet											DOID:11983|UMLS:C0032897|Orphanet:739|SCTID:89392001|NCIT:C75463|GARD:0005575|MedDRA:10036476|MESH:D011218|ICD9:759.81|COHD:441963|OMIM:176270|ICD10:Q87.1														https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome				owl:Class
MONDO:0003459	biolink:NamedThing	cervical adenofibroma	A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.	mondoexuq1wtf												NCIT:C40230|UMLS:C1516402|DOID:5476																		owl:Class
MONDO:0000644	biolink:NamedThing	cervical benign neoplasm	A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.	mondoexuq1wtf	benign neoplasm of the cervix uteri|benign tumor of cervix uteri|benign cervix uteri tumor|benign uterine cervix tumor|benign neoplasm of uterine cervix|benign neoplasm of the uterine cervix|benign tumor of the cervix uteri|benign cervix uteri neoplasm|benign tumor of the uterine cervix|benign cervical neoplasm|benign tumor of uterine cervix|uterine cervix benign neoplasm|benign uterine cervix neoplasm|benign neoplasm of cervix uteri											COHD:196364|NCIT:C3607|DOID:0060110|UMLS:C0153997|SCTID:92056006																		owl:Class
MONDO:0009890	biolink:NamedThing	Gillessen-Kaesbach-Nishimura syndrome		mondoexuq1wtf	polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia|Gillessen-Kaesbach-Nishimura syndrome|GIKANIS|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia											OMIM:263210|MESH:C564881|UMLS:C1849762																		owl:Class
MONDO:0012117	biolink:NamedThing	ALG9-CDG	A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).	mondoexuq1wtf	CDG1L|ALG9-CDG (CDG-IL)|mannosyltransferase 7-9 deficiency|CDG-IL|CDG syndrome type IL|congenital disorder of glycosylation, type IL|carbohydrate deficient glycoprotein syndrome type IL|carbohydrate deficient glycoprotein syndrome type 1L|congenital disorder of glycosylation type IL|CDG IL|congenital disorder of glycosylation type 1L|CDG 1L											MESH:C535750|OMIM:608776|UMLS:C2931006|ICD10:E77.8|DOID:0080564|GARD:0009839|SCTID:720978005|Orphanet:79328																		owl:Class
MONDO:0100065	biolink:NamedThing	TH-deficient infantile parkinsonism and motor delay	A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).	mondoexuq1wtf	tyrosine hydroxylase infantile parkinsonism and motor delay				2018-11-10 00:07:39+00:00																									owl:Class
MONDO:0100064	biolink:NamedThing	tyrosine hydroxylase deficiency	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).	mondoexuq1wtf	TH deficiency|tyrosine 3-monooxygenase deficiency|tyrosine Hydroxylase deficiency				2018-11-09 23:43:34+00:00																									owl:Class
MONDO:0013716	biolink:NamedThing	aortic aneurysm, familial abdominal, 4		mondoexuq1wtf	aortic aneurysm, familial abdominal, 4|AAA4											UMLS:C3280597|OMIM:614375																		owl:Class
MONDO:0007031	biolink:NamedThing	familial abdominal aortic aneurysm	An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	aortic aneurysm, familial abdominal|hereditary abdominal aortic aneurysm											UMLS:C4275172|SCTID:715364001|Orphanet:86|UMLS:CN206207|ICD10:I71.4|OMIMPS:100070|GARD:0009181																		owl:Class
MONDO:0004661	biolink:NamedThing	trachea carcinoma in situ	A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.	mondoexuq1wtf	severe epithelial dysplasia of trachea|trachea in situ carcinoma|trachea carcinoma in situ|carcinoma in situ of trachea|stage 0 trachea carcinoma|carcinoma in situ of the trachea|tracheal carcinoma in situ											DOID:8802|ICD10:D02.1|ICD9:231.1|SCTID:92772005|COHD:439772|NCIT:C3639|UMLS:C0154070																		owl:Class
MONDO:0014350	biolink:NamedThing	Seckel syndrome 8	Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.	mondoexuq1wtf	Seckel syndrome type 8|DNA2 Seckel syndrome|SCKL8|Seckel syndrome caused by mutation in DNA2|Seckel syndrome 8											OMIM:615807|UMLS:C3891452|DOID:0070009																		owl:Class
MONDO:0014842	biolink:NamedThing	intellectual disability, autosomal dominant 41	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|autosomal dominant non-syndromic intellectual disability 41|MRD41|mental retardation, autosomal dominant 41|intellectual disability, autosomal dominant type 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 41|mental retardation, autosomal dominant type 41|autosomal dominant mental retardation 41|autosomal dominant intellectual disability 41											DOID:0070071|UMLS:C4310784|OMIM:616944																		owl:Class
MONDO:0015646	biolink:NamedThing	orgasm-induced seizures	Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.	mondoexuq1wtf												ICD10:G40.8|Orphanet:166421|UMLS:CN200056																		owl:Class
MONDO:0017768	biolink:NamedThing	reflex epilepsy	Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).	mondoexuq1wtf	epilepsy, sensory-induced											ICD9:345.10|Orphanet:310|NCIT:C85041|MESH:D020195|UMLS:C0270857|EFO:1001146|ICD10:G40.8|DOID:2548|SCTID:79745005																		owl:Class
MONDO:0013543	biolink:NamedThing	trypsinogen deficiency		mondoexuq1wtf	trypsinogen deficiency											ICD9:277.89|UMLS:C0268417|OMIM:614044|SCTID:190953007																		owl:Class
MONDO:0014722	biolink:NamedThing	Roifman syndrome		mondoexuq1wtf	spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|RFMN|spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|Roifman syndrome|ROIFMAN syndrome											ICD10:Q77.7|MESH:C535866|UMLS:C1846059|OMIM:616651|Orphanet:353298|GARD:0009163														https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome				owl:Class
MONDO:0019504	biolink:NamedThing	superior limbic keratoconjunctivitis	Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.	mondoexuq1wtf	Theodores syndrome|Theodores superior limbic keratoconjunctivitis|SLK|Theodore's superior limbic keratoconjunctivitis|Theodore's syndrome											UMLS:C0339229|ICD9:370.49|Orphanet:88633|ICD10:H16.2|SCTID:231903005|GARD:0010940														https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis				owl:Class
MONDO:0032657	biolink:NamedThing	developmental and epileptic encephalopathy, 69		mondoexuq1wtf	epileptic encephalopathy, early infantile, 69|EIEE69|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69|DEE69											OMIM:618285																		owl:Class
MONDO:0054852	biolink:NamedThing	peeling skin syndrome 6		mondoexuq1wtf	PSS6|peeling skin syndrome 6											OMIM:618084																		owl:Class
MONDO:0019347	biolink:NamedThing	peeling skin syndrome	Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.	mondoexuq1wtf	skin peeling syndrome|keratosis exfoliativa congenita|familial continuous skin peeling syndrome|familial continuous skin peeling|PSS|peeling skin disease|idiopathic deciduous skin|deciduous skin											OMIMPS:270300|SCTID:239065004|GARD:0007347|ICD9:757.39|ICD10:Q80.8|DOID:0060283|Orphanet:817																		owl:Class
MONDO:0007805	biolink:NamedThing	hypotrichosis 2	Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.	mondoexuq1wtf	Htss|hypt2|CDSN hypotrichosis|hypotrichosis 2|hypotrichosis type 2|HYPT2|hypotrichosis, Spanish type|Spanish type hypotrichosis|hypotrichosis caused by mutation in CDSN|hypotrichosis simplex of the scalp 1											DOID:0110699|MESH:C564143|OMIM:146520																		owl:Class
MONDO:0019575	biolink:NamedThing	hypotrichosis simplex of the scalp	Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.	mondoexuq1wtf	hereditary hypotrichosis simplex of the scalp											SCTID:717256009|ICD10:L65.8|Orphanet:90368																		owl:Class
MONDO:0007688	biolink:NamedThing	Myhre syndrome	Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.	mondoexuq1wtf	MYHRE syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|laryngotracheal stenosis, arthropathy, prognathism, and short stature|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|Myhre syndrome|Growth-mental deficiency syndrome of Myhre|MYHRS|LAPS syndrome|Growth mental deficiency syndrome of Myhre											Orphanet:2588|OMIM:139210|SCTID:699316006|ICD9:759.89|ICD10:Q87.8|GARD:0002572|NCIT:C123815|UMLS:C0796081|MESH:C537620														https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome				owl:Class
MONDO:0019228	biolink:NamedThing	inborn disorder of histidine metabolism	An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process.	mondoexuq1wtf	inborn histidine metabolic process disorder|rare inborn error of histidine metabolic process|disorder of histidine metabolism|histidine metabolism disease|inborn error of histidine metabolic process|disturbances of histidine metabolism|inborn error of histidine metabolism											DOID:9265|ICD10:E70.8|ICD9:270.5|ICD10:E70.40|ICD10:E70.4|Orphanet:79181																		owl:Class
MONDO:0011147	biolink:NamedThing	chromosome 18q deletion syndrome	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.	mondoexuq1wtf	18q-syndrome|chromosome 18q deletion syndrome|monosomy type 18q|proximal 18q deletion syndrome|18q deletion syndrome|deletion 18q syndrome|proximal 18q-|deletion 18q|18Q syndrome|proximal chromosome 18q deletion syndrome|18Q- syndrome|18q- syndrome|monosomy 18q|monosomy 18q syndrome|chromosome 18Q- syndrome|proximal 18q deletion											ICD10:Q93.5|Orphanet:1600|ICD9:758.39|OMIM:601808|NCIT:C84522|GARD:0010866|DOID:0060407|MESH:C536580|UMLS:C0432443|SCTID:270889005																		owl:Class
MONDO:0007362	biolink:NamedThing	cone-rod dystrophy 2	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.	mondoexuq1wtf	CORD2|cone-rod retinal dystrophy|retinal cone-rod dystrophy|cone-rod retinal dystrophy 2|CRX cone-rod dystrophy|RCRD2|cone-rod dystrophy 2|cone-rod dystrophy caused by mutation in CRX|cone-rod dystrophy type 2|cone-rod dystrophy|retinal cone-rod dystrophy 2|CRD2											SCTID:80328002|DOID:0111005|UMLS:CN074280|ICD9:362.75|OMIM:120970|GARD:0006145																		owl:Class
MONDO:0008276	biolink:NamedThing	generalized juvenile polyposis/juvenile polyposis coli		mondoexuq1wtf	juvenile polyposis of stomach|polyposis, juvenile intestinal|juvenile intestinal polyposis|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis coli|juvenile polyposis syndrome|jPS											DOID:0050787|UMLS:CN204230|Orphanet:329971|ICD10:D12.6|OMIM:174900																		owl:Class
MONDO:0017380	biolink:NamedThing	juvenile polyposis syndrome	Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.	mondoexuq1wtf	juvenile polyposis syndrome|PJI|jPS|JIP|juvenile intestinal polyposis|polyposis juvenile intestinal|juvenile polyposis|juvenile multiple polyps syndrome|polyposis familial of entire gastrointestinal tract|juvenile gastrointestinal polyposis											UMLS:CN239474|NCIT:C7754|ICD10:D12.6|SCTID:9273005|Orphanet:2929|GARD:0003065																		owl:Class
MONDO:0025412	biolink:NamedThing	feline panleukopenia	A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.	mondoexuq1wtf	show fever|fever, show|plagues, Cat|plague, Cat|Panleukopenia, Feline|enteritides, Feline infectious|Feline infectious enteritis|ataxias, Feline|Panleukopenias, Feline|distempers, Feline|agranulocytosis, Feline|Feline Panleukopenias|distemper, Feline|fevers, show|infectious Enteritides, Feline|enteritis, Feline infectious|Feline Agranulocytoses|Feline agranulocytosis|agranulocytoses, Feline|show fevers|Feline Ataxias|Cat Plagues|Feline Distempers|Feline infectious Enteritides|ataxia, Feline|infectious enteritis, Feline|Feline ataxia|Feline distemper|Cat plague											MESH:D005254|UMLS:C0015765																		owl:Class
MONDO:0016194	biolink:NamedThing	qualitative or quantitative defects of nebulin		mondoexuq1wtf												Orphanet:209182																		owl:Class
MONDO:0034024	biolink:NamedThing	kyphoscoliotic Ehlers-Danlos syndrome	A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	mondoexuq1wtf	kyphoscoliotic EDS|EDS VI											Orphanet:536545																		owl:Class
MONDO:0010537	biolink:NamedThing	Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	mondoexuq1wtf	Borjeson-Forssman-Lehmann syndrome|Borjeson-FORSSMAN-Lehmann syndrome|mental retardation, epilepsy, and endocrine disorders|intellectual disability, epilepsy, and endocrine disorder|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|mental retardation, epilepsy, and endocrine disorder|intellectual disability, epilepsy, and endocrine disorders|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|BFLS|intellectual deficiency-epilepsy-endocrine disorders syndrome|Borjeson syndrome|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|MRXSBFL|BORJ|mental deficiency, epilepsy and endocrine disorders|intellectual disability-epilepsy-endocrine disorders syndrome											ICD9:759.89|OMIM:301900|ICD10:Q87.8|UMLS:C0265339|SCTID:21634003|Orphanet:127|GARD:0000936|MESH:C536575|DOID:0050681														https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome				owl:Class
MONDO:0021294	biolink:NamedThing	carcinoma in situ of gastric cardia	A in situ carcinoma that involves the cardia of stomach.	mondoexuq1wtf	gastric cardia carcinoma in situ aJCC v6 and v7|carcinoma in situ of the gastric cardia|stage 0 gastric cardia carcinoma|stage 0 cardia of stomach carcinoma|carcinoma in situ of cardia of stomach|cardia of stomach in situ carcinoma|cardia of stomach carcinoma in situ|gastric cardia carcinoma in situ|carcinoma in situ of the cardia of the stomach											SCTID:92560002|NCIT:C4428|UMLS:C0345795																		owl:Class
MONDO:0003525	biolink:NamedThing	pancreatic gastrin-producing neuroendocrine tumor	A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.	mondoexuq1wtf	pancreatic gastrin producing NET|pancreas gastrin-producing neuroendocrine tumor|pancreatic G-cell tumor|pancreatic gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|gastrin-producing neuroendocrine tumor of pancreas|islet cell tumor, ulcerogenic					Editor note: determine difference between NCIT:C95596 and NCIT:C9069						NCIT:C9069|DOID:5580|MESH:D015408|UMLS:C1368066																		owl:Class
MONDO:0017230	biolink:NamedThing	autosomal semi-dominant severe lipodystrophic laminopathy		mondoexuq1wtf												UMLS:CN202719|Orphanet:280365|ICD10:E88.1																		owl:Class
MONDO:0005308	biolink:NamedThing	ciliopathy	A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.	mondoexuq1wtf	ciliopathies											Orphanet:363250|DOID:0060340|EFO:0003900|GTR:AN0966173|UMLS:CN580792																		owl:Class
MONDO:0019354	biolink:NamedThing	Stickler syndrome	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).	mondoexuq1wtf	hereditary progressive arthroophthalmopathy					Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome						UMLS:C0265253|SCTID:78675000|GARD:0010782|ICD9:759.89|OMIMPS:108300|ICD10:Q87.0|Orphanet:828|DOID:0080046|NCIT:C74984|MedDRA:10063402																		owl:Class
MONDO:0020248	biolink:NamedThing	vitreoretinal degeneration		mondoexuq1wtf	degenerative vitreoretinopathy											HP:0007964|Orphanet:98670|GARD:0005506|SCTID:247182006|UMLS:C0344290|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration				owl:Class
MONDO:0004175	biolink:NamedThing	mucin-rich endometrial endometrioid adenocarcinoma		mondoexuq1wtf												NCIT:C8717|UMLS:C1513711|DOID:7293																		owl:Class
MONDO:0014989	biolink:NamedThing	uncombable hair syndrome 2	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.	mondoexuq1wtf	TGM3 uncombable hair syndrome|uncombable hair syndrome 2; UHS2|uncombable hair syndrome type 2|uncombable hair syndrome 2|UHS2|uncombable hair syndrome caused by mutation in TGM3											OMIM:617251|UMLS:C4310649																		owl:Class
MONDO:0008621	biolink:NamedThing	uncombable hair syndrome	Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.	mondoexuq1wtf	uncombable hair syndrome|cheveux incoiffables|spun glass hair|unmanageable hair syndrome|pili trianguli et canaliculi											GARD:0005404|ICD10:Q84.1|MESH:C536939|Orphanet:1410|DC:0000734|UMLS:C0432347|SCTID:254230001														https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome				owl:Class
MONDO:0007712	biolink:NamedThing	oculoauriculovertebral spectrum with radial defects	Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	mondoexuq1wtf	Goldenhar syndrome with ipsilateral radial defect|Moeschler Clarren syndrome|microsomia hemifacial radial defects|Moeschler-Clarren syndrome|hemifacial microsomia with radial defects|oculoauriculovertebral spectrum with radial defect|Oavs with radial defect|hemifacial microsomia-radial defects syndrome											ICD10:Q75.8|GARD:0003653|SCTID:726722009|Orphanet:2549|OMIM:141400																		owl:Class
MONDO:0044884	biolink:NamedThing	tonsillar lymphoma	A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.	mondoexuq1wtf	lymphoma of tonsil|Primary tonsillar lymphoma|tonsil lymphoma|lymphoma of the tonsil|tonsillar lymphoma											NCIT:C5918|UMLS:C1336765																		owl:Class
MONDO:0008340	biolink:NamedThing	congenital ptosis	Congenital ptosis is characterized by superior eyelid drop present at birth.	mondoexuq1wtf	ptosis, hereditary congenital 1|congenital eyelid ptosis|congenital ptosis (disease)|PTOS1|congenital ptosis		congenital ptosis (disease)									COHD:437093|MESH:C566737|DOID:0060261|HP:0007970|OMIM:178300|ICD10:Q10.0|SCTID:268163008|MedDRA:10015996|Orphanet:91411|NCIT:C27049|ICD9:743.61																		owl:Class
MONDO:0011604	biolink:NamedThing	spondylo-ocular syndrome	Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.	mondoexuq1wtf	SOS|spondyloocular syndrome											SCTID:715653007|OMIM:605822|ICD10:Q87.5|Orphanet:85194																		owl:Class
MONDO:0002587	biolink:NamedThing	encapsulated thymoma	A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.	mondoexuq1wtf	encapsulated thymoma											UMLS:C1333383|NCIT:C7386|DOID:3278																		owl:Class
MONDO:0007540	biolink:NamedThing	multiple endocrine neoplasia type 1	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.	mondoexuq1wtf	men 1|MEA 1|MEN1|multiple endocrine adenomatosis type I|endocrine adenomatosis multiple|multiple endocrine adenomatosis, type I|MEN1 multiple endocrine neoplasia|men type 1|multiple endocrine neoplasia caused by mutation in MEN1|men type I|MEN1 somatic mutations|multiple endocrine adenomatosis|multiple endocrine neoplasia, type I|MEA type 1|Wermer's syndrome|multiple endocrine adenomatosis type 1|Wermer syndrome|multiple endocrine neoplasia, type 1|multiple endocrine neoplasia type I|endocrine adenomatosis, multiple|multiple endocrine neoplasia type 1 syndrome|multiple endocrine neoplasia type 1|MEA type I|MEN1 syndrome											SCTID:30664006|MESH:D018761|OMIM:131100|ICD10:E31.21|ICD9:258.01|UMLS:C0025267|NCIT:C3225|Orphanet:652|GARD:0003829|MedDRA:10028190|ICD9:237.4|ICD10:D44.8|COHD:28127|DOID:10017														https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1				owl:Class
MONDO:0011993	biolink:NamedThing	aspirin resistance		mondoexuq1wtf	aspirin resistance|aspirin, resistance to Antithrombotic Effect of|aspirin, resistance to Cardioprotective Effect of											OMIM:608223																		owl:Class
MONDO:0044211	biolink:NamedThing	idiopathic urticaria		mondoexuq1wtf	idiopathic angioedema-urticaria											UMLS:C0157741|SCTID:42265009|ICD10:L50.1|ICD9:708.1																		owl:Class
MONDO:0014807	biolink:NamedThing	spinal muscular atrophy with congenital bone fractures 2	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.	mondoexuq1wtf	spinal muscular atrophy with congenital bone fractures 2|SMABF2|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1|spinal muscular atrophy with congenital bone fractures type 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures											OMIM:616867|UMLS:C4225176																		owl:Class
MONDO:0014531	biolink:NamedThing	amyotrophic lateral sclerosis type 22	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.	mondoexuq1wtf	amyotrophic lateral sclerosis caused by mutation in TUBA4A|amyotrophic lateral sclerosis 22|TUBA4A amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|ALS22|amyotrophic lateral sclerosis type 22|ALS 22											DOID:0060355|UMLS:C4015512|OMIM:616208																		owl:Class
MONDO:0015781	biolink:NamedThing	facial dysmorphism-shawl scrotum-joint laxity syndrome	Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	mondoexuq1wtf	Seaver-Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|facial dysmorphism shawl scrotum joint laxity|Seaver Cassidy syndrome											UMLS:C2931522|MESH:C537529|ICD10:Q87.8|GARD:0004778|Orphanet:1778|SCTID:716337006																		owl:Class
MONDO:0007030	biolink:NamedThing	autosomal dominant Aarskog syndrome		mondoexuq1wtf	Aarskog syndrome, autosomal dominant|faciogenital dysplasia|Aarskog-Scott syndrome|Aarskog syndrome					We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case)						OMIM:100050|DOID:6683|ICD10:Q87.1																		owl:Class
MONDO:0021005	biolink:NamedThing	faciodigitogenital syndrome	A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.	mondoexuq1wtf	Aarskog syndrome|faciogenital dysplasia|Aarskog-Scott syndrome											ICD10:Q87.1|MedDRA:10067148																		owl:Class
MONDO:0008787	biolink:NamedThing	microcytic anemia with liver iron overload	Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.	mondoexuq1wtf	microcytic anemia and hepatic iron overload|AHMIO1|anemia, hypochromic microcytic, with iron overload 1|hypochromic microcytic anemia with iron overload|anemia, hypochromic microcytic, with iron overload type 1											Orphanet:83642|OMIM:206100|ICD10:D50.8|SCTID:711161006|GARD:0012360																		owl:Class
MONDO:0000104	biolink:NamedThing	anemia, hypochromic microcytic with iron overload		mondoexuq1wtf	anemia, hypochromic microcytic, with iron overload											MESH:C567144|OMIMPS:206100|DC:0000469|UMLS:C2673913																		owl:Class
MONDO:0017682	biolink:NamedThing	intellectual disability-polydactyly-uncombable hair syndrome	Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	mondoexuq1wtf	intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair											Orphanet:3082|MESH:C537615|GARD:0003141|UMLS:C2931547|ICD10:Q87.2																		owl:Class
MONDO:0008958	biolink:NamedThing	Klippel-Feil syndrome 2, autosomal recessive	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.	mondoexuq1wtf	cervical vertebral fusion, autosomal recessive|Klippel-FEIL syndrome 2, autosomal recessive|KFS2|Klippel-Feil syndrome 2, autosomal recessive|isolated Klippel-Feil syndrome caused by mutation in MEOX1|Kfs, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome											MESH:C536888|OMIM:214300|DOID:0080590|UMLS:C1859209																		owl:Class
MONDO:0016520	biolink:NamedThing	isolated Klippel-Feil syndrome	Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.	mondoexuq1wtf	Klippel-Feil sequence|Klippel-Feil malformation|congenital fused cervical segments|congenital cervical vertebral fusion|nonsyndromic Klippel-Feil syndrome											ICD10:Q76.1|COHD:433585|Orphanet:2345																		owl:Class
MONDO:0007604	biolink:NamedThing	femoral-facial syndrome	Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.	mondoexuq1wtf	femoral-facial syndrome|femoral dysgenesis, bilateral|FFS|femoral hypoplasia-unusual facies syndrome|FHUFS|femoral hypoplasia unusual facies syndrome|femoral facial syndrome											OMIM:134780|GARD:0000061|MESH:C537916|ICD10:Q87.8|SCTID:13280000|ICD9:759.89|Orphanet:1988														https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome				owl:Class
MONDO:0021479	biolink:NamedThing	benign neoplasm of oropharynx	A benign neoplasm that involves the oropharynx.	mondoexuq1wtf	benign neoplasm of the oropharynx|benign oropharyngeal tumor|oropharynx benign neoplasm|benign tumor of the oropharynx|oropharyngeal neoplasm benign|benign tumor of oropharynx|benign oropharyngeal neoplasm											ICD9:210.6|SCTID:92259008|UMLS:C0347229|NCIT:C4604																		owl:Class
MONDO:0002585	biolink:NamedThing	breast fibrocystic change, proliferative type	Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.	mondoexuq1wtf	proliferative type fibrocystic change of the breast|benign proliferative breast disease|proliferative breast disease|proliferative type fibrocystic change of breast|proliferating lesion of the breast without atypia|fibrocystic disease, proliferative type with atypia|proliferative breast lesion|proliferating lesion of breast without atypia|proliferative fibrocystic change|breast fibrocystic change, proliferative type|fibrocystic change, proliferative type with atypia											UMLS:C0334056|DOID:3274|NCIT:C6940																		owl:Class
MONDO:0005219	biolink:NamedThing	breast fibrocystic disease	Fibrosis associated with cyst formation in the breast parenchyma.	mondoexuq1wtf	fibrocystic breast|fibrocystic breast disease|breast fibrocystic change|fibrocystic disease|fibrocystic mastopathy|fibrocystic breast changes|fibrocystic change of breast|diffuse cystic mastopathy|benign breast disease|fibrocystic change of the breast|cystic disease of breast|cystic disease of the breast|mammary dysplasia|fibrocystic disease of the breast|fibrocystic disease of breast					Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic						MESH:D005348|DOID:10354|EFO:0003014|ICD10:N60.1|COHD:78804|UMLS:C0016034|NCIT:C3039|ICD10:N60|ICD9:610.1																		owl:Class
MONDO:0008830	biolink:NamedThing	aspartylglucosaminuria	Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).	mondoexuq1wtf	Glycoasparaginase|aspartylglucosaminuria|Aspartylglucosamidase (AGA) deficiency|glycosylasparaginase deficiency|aspartylglycosaminuria|AGU|Aga deficiency|aspartylglucosaminidase deficiency											MedDRA:10068220|UMLS:C0268225|NCIT:C61273|ICD10:E77.1|DOID:0050461|GARD:0005854|MESH:D054880|SCTID:54954004|OMIM:208400|Orphanet:93																		owl:Class
MONDO:0010794	biolink:NamedThing	NARP syndrome	Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	mondoexuq1wtf	NARP|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|neuropathy ataxia retinitis pigmentosa syndrome|NARP syndrome|neuropathy, ataxia, and retinitis pigmentosa|neuropathy-ataxia-retinitis pigmentosa syndrome											MESH:C537396|OMIM:551500|ICD10:G31.8|UMLS:C1328349|DOID:0111273|MedDRA:10062940|GARD:0000262|Orphanet:644																		owl:Class
MONDO:0014593	biolink:NamedThing	developmental and epileptic encephalopathy, 29	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.	mondoexuq1wtf	EIEE29|epileptic encephalopathy, early infantile, 29|epileptic encephalopathy, early infantile, type 29|DEE29|early infantile epileptic encephalopathy caused by mutation in AARS|AARS early infantile epileptic encephalopathy											OMIM:616339|DOID:0080451|UMLS:C4225361																		owl:Class
MONDO:0006193	biolink:NamedThing	endometrial hyperplasia without atypia	Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.	mondoexuq1wtf	typical endometrial hyperplasia											EFO:1000234|SCTID:134031000119108|NCIT:C40157|ICD9:621.34																		owl:Class
MONDO:0041161	biolink:NamedThing	endometrial hyperplasia	A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).	mondoexuq1wtf	hyperplasia of the endometrium|endometrial hyperplasia|hyperplasia of endometrium					Editor note: cede to HPO						DOID:0080365|UMLS:C0014173|HP:0040298|SCTID:237072009|NCIT:C3013																		owl:Class
MONDO:0016276	biolink:NamedThing	high-grade neuroendocrine carcinoma of the cervix uteri	High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	mondoexuq1wtf	poorly differentiated neuroendocrine carcinoma of the cervix uteri|high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine cervical carcinoma											Orphanet:213777|ICD10:C53.0|ICD10:C53.1|UMLS:CN201066|ICD10:C53.8																		owl:Class
MONDO:0002974	biolink:NamedThing	cervical cancer	A primary or metastatic malignant neoplasm involving the cervix.	mondoexuq1wtf	malignant neoplasm of the cervix|malignant cervix tumor|malignant tumor of the cervix|malignant tumor of uterine cervix|cervix cancer|malignant neoplasm of cervix uteri|malignant tumor of cervix|malignant neoplasm of cervix|malignant tumor of the uterine cervix|malignant neoplasm of the uterine cervix|malignant neoplasm of uterine cervix|malignant tumor of the cervix uteri|malignant tumor of cervix uteri|malignant cervix uteri tumor|malignant uterine cervix tumor|malignant uterine cervix neoplasm|cervix uteri cancer|uterine cervix cancer|uterine cervical neoplasm|malignant cervical tumor|malignant neoplasm of the cervix uteri|cancer of uterine cervix|malignant cervix neoplasm|malignant cervix uteri neoplasm|malignant cervical neoplasm|cervical neoplasm|tumor of the cervix uteri											OMIM:603956|ICD10:C53|DOID:4362|ICD9:180|ICD9:180.8|NCIT:C9311|SCTID:363354003|ICD10:C53.9|ICD9:180.9|COHD:198984																		owl:Class
MONDO:0044777	biolink:NamedThing	premature ovarian failure 14		mondoexuq1wtf	POF14|GDF9-related primary ovarian insufficiency|premature ovarian failure 14											UMLS:CN753759|UMLS:CN757793|OMIM:618014|GTR:AN1172965																		owl:Class
MONDO:0011755	biolink:NamedThing	senior-loken syndrome 3		mondoexuq1wtf	SLSN3|SENIOR-Loken syndrome 3											MESH:C564637|UMLS:C1846980|OMIM:606995																		owl:Class
MONDO:0017842	biolink:NamedThing	Senior-Loken syndrome	Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.	mondoexuq1wtf	SLSN|nephronophthisis with retinal dystrophy|Senior Loken syndrome|renal dysplasia-retinal aplasia syndrome|renal dysplasia retinal aplasia|Loken Senior syndrome|renal-retinal syndrome											OMIMPS:266900|ICD10:Q61.5|UMLS:CN117960|Orphanet:3156|GARD:0000322|DOID:0050576|MESH:C537580																		owl:Class
MONDO:0007312	biolink:NamedThing	Charcot-Marie-Tooth disease with ptosis and parkinsonism		mondoexuq1wtf	Charcot-Marie-Tooth disease with ptosis and parkinsonism											UMLS:C1861668|OMIM:118301|MESH:C538079																		owl:Class
MONDO:0007972	biolink:NamedThing	Meniere disease	A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.	mondoexuq1wtf	Mnire's vertigo|otogenic vertigo|Meniere disease|Meniere's disease											ICD9:386.0|MESH:D008575|ICD10:H81.09|OMIM:156000|EFO:0006862|SCTID:13445001|DOID:9849|UMLS:C0025281|ICD9:386.00|ICD10:H81.0																		owl:Class
MONDO:0030604	biolink:NamedThing	cystic partially differentiated nephroblastoma	A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.	mondoexuq1wtf	malignant cystic nephroma|malignant multilocular cystic nephroma|cystic partially differentiated nephroblastoma											UMLS:C1266139|DOID:7571|ICDO:8959/3|NCIT:C6897|ICDO:8959/1																		owl:Class
MONDO:0024676	biolink:NamedThing	childhood kidney Wilms tumor	A Wilms tumor of the kidney which occurs in children.	mondoexuq1wtf	childhood renal Wilms tumor|childhood kidney Wilms tumor|childhood renal Wilms' tumor|kidney Wilms tumor|Wilms tumor|childhood Wilms tumor											UMLS:C1333015|NCIT:C27730																		owl:Class
MONDO:0034109	biolink:NamedThing	congenital myopathy with reduced type 2 muscle fibers		mondoexuq1wtf												Orphanet:544602|OMIM:618414																		owl:Class
MONDO:0003163	biolink:NamedThing	cauda equina intradural extramedullary astrocytoma		mondoexuq1wtf	intradural extramedullary Cauda equina astrocytoma|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary astrocytic tumor of the Cauda equina											UMLS:C1334254|DOID:4846|NCIT:C5408																		owl:Class
MONDO:0003164	biolink:NamedThing	cauda equina neoplasm	A neoplasm involving a cauda equina.	mondoexuq1wtf	cauda equina neoplasm (disease)|neoplasm of cauda equina|Cauda equina neoplasms|tumor of Cauda equina|tumor of cauda equina|tumor of the Cauda equina|neoplasm of the Cauda equina|cauda equina tumor											NCIT:C5479|SCTID:126963001|UMLS:C1263892|DOID:4847																		owl:Class
MONDO:0012897	biolink:NamedThing	congenital factor XI deficiency	Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.	mondoexuq1wtf	plasma thromboplastin antecedent deficiency|PTA deficiency|Rosenthal's disease|Rosenthal factor deficiency|factor 11 deficiency|hemophilia C|F11 deficiency|congenital factor XI deficiency|hereditary factor XI deficiency disease|Rosenthal syndrome|hereditary factor XI deficiency|hereditary Factor XI deficiency|factor XI deficiency											GARD:0009670|Orphanet:329|OMIM:612416|DOID:2229|ICD10:D68.1|COHD:437256|UMLS:C0015523|MESH:D005173|SCTID:49762007|NCIT:C84705|ICD9:286.2														https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency				owl:Class
MONDO:0020587	biolink:NamedThing	factor XI deficiency	A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.	mondoexuq1wtf	factor XI deficiency											SCTID:767713001|NCIT:C131739																		owl:Class
MONDO:0018271	biolink:NamedThing	peripheral primitive neuroectodermal tumor	A small round cell tumor with neural differentiation arising from the soft tissues or bone.	mondoexuq1wtf	peripheral neuroectodermal tumor|peripheral primitive neuroectodermal neoplasm|peripheral neuroectodermal neoplasm|peripheral primitive neuroectodermal tumor|pPNET|peripheral PNET|peripheral neuroepithelioma|PPNET											NCIT:C9341|Orphanet:370348|ICD10:C71.9|UMLS:C3489398|UMLS:C0684337|ICDO:9364/3																		owl:Class
MONDO:0005462	biolink:NamedThing	primitive neuroectodermal tumor	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.	mondoexuq1wtf	primitive neuroectodermal neoplasm|neuroepithelioma|neuroectodermal tumor|primitive neuroectodermal tumor|primitive neuroectodermal tumor (PNET)|neuroectodermal neoplasm|PNET					Editor note: TODO check relationship to neuroepithelioma						EFO:0005235|ICDO:9503/3|MESH:D017599|ONCOTREE:PNET|ICDO:9473/3|DOID:171|NCIT:C3716																		owl:Class
MONDO:0015462	biolink:NamedThing	thin ribs-tubular bones-dysmorphism syndrome		mondoexuq1wtf	Sharma-Kapoor-Ramji syndrome											MESH:C537595|UMLS:C2931543|ICD10:Q87.5|Orphanet:1506																		owl:Class
MONDO:0044208	biolink:NamedThing	specific granule deficiency 2	Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).	mondoexuq1wtf	SGD2|specific granule deficiency 2											OMIM:617475|UMLS:C4479548																		owl:Class
MONDO:0009506	biolink:NamedThing	specific granule deficiency		mondoexuq1wtf	recurrent infection due to specific granule deficiency|neutrophil lactoferrin deficiency|SGD|specific granule deficiency|lactoferrin-deficient neutrophils|neutrophil-specific granule deficiency											MESH:C562873|UMLS:C0398593|Orphanet:169142|GARD:0010778|OMIMPS:245480|SCTID:234587000|ICD10:D71																		owl:Class
MONDO:0016006	biolink:NamedThing	Cockayne syndrome	Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.	mondoexuq1wtf	Neill-Dingwall syndrome|Cockayne's syndrome|progeria-like syndrome|progeroid nanism|dwarfism-retinal atrophy-deafness syndrome											DOID:2962|UMLS:C0009207|ICD10:Q87.1|ICD9:759.89|Orphanet:191|GARD:0006122|MedDRA:10009835|SCTID:21086008|MESH:D003057|NCIT:C9460																		owl:Class
MONDO:0030017	biolink:NamedThing	combined oxidative phosphorylation deficiency 43		mondoexuq1wtf	combined oxidative phosphorylation deficiency 43|COXPD43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43											OMIM:618851																		owl:Class
MONDO:0034217	biolink:NamedThing	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		mondoexuq1wtf												ICD10:E07.8|Orphanet:566243																		owl:Class
MONDO:0001328	biolink:NamedThing	thyroid hormone resistance syndrome	An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.	mondoexuq1wtf	resistance to thyrotropin|TSH resistance|resistance to thyroid stimulating hormone|thyroid hormone resistance|RTH|thyroid hormone responsiveness defect|thyroid hormone resistance syndrome|generalized thyroid hormone resistance											MESH:D018382|UMLS:CN118820|DOID:11633|SCTID:111567006|ICD9:259.8																		owl:Class
MONDO:0013761	biolink:NamedThing	childhood encephalopathy due to thiamine pyrophosphokinase deficiency		mondoexuq1wtf	thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|THMD5											OMIM:614458|UMLS:C3280866|Orphanet:293955																		owl:Class
MONDO:0000152	biolink:NamedThing	thiamine-responsive dysfunction syndrome		mondoexuq1wtf												OMIMPS:249270|DC:0000600																		owl:Class
MONDO:0001886	biolink:NamedThing	midline cystocele		mondoexuq1wtf												UMLS:C1456248|DOID:14131|SCTID:423633003|COHD:4311159|ICD9:618.01|ICD10:N81.11																		owl:Class
MONDO:0001592	biolink:NamedThing	prolapse of female genital organ		mondoexuq1wtf						Editor note: requires review						UMLS:C0156349|DOID:1284|SCTID:73998008|ICD9:618.89|ICD10:N81|ICD9:618.8																		owl:Class
MONDO:0016061	biolink:NamedThing	immunodeficiency with factor H anomaly		mondoexuq1wtf												Orphanet:200421|ICD10:D84.1																		owl:Class
MONDO:0044336	biolink:NamedThing	colorectal signet ring cell carcinoma	An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.	mondoexuq1wtf	colorectal signet Ring cell carcinoma											NCIT:C43586|UMLS:C1707440																		owl:Class
MONDO:0005092	biolink:NamedThing	signet ring cell carcinoma	A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.	mondoexuq1wtf	signet ring cell adenocarcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring carcinoma|signet ring cell carcinoma|signet ring cell carcinoma (morphologic abnormality)											DOID:3493|ICDO:8490/3|EFO:0000698|NCIT:C3774|MESH:D018279|UMLS:C0206696																		owl:Class
MONDO:0000927	biolink:NamedThing	asymptomatic neurosyphilis		mondoexuq1wtf												SCTID:37754005|ICD10:A52.2|UMLS:C0153167|DOID:10035|ICD9:094.3|COHD:376335																		owl:Class
MONDO:0004944	biolink:NamedThing	neurosyphilis	Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.	mondoexuq1wtf	neurosyphilis|tertiary neurosyphilis|late neurosyphilis											UMLS:C0027927|ICD9:094.89|GARD:0008729|SCTID:26039008|ICD9:094|NCIT:C84935|ICD10:A52.3|ICD9:094.9|DOID:9988																		owl:Class
MONDO:0018916	biolink:NamedThing	isolated anorectal malformation	Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.	mondoexuq1wtf	nonsyndromic anorectal malformation											Orphanet:557|ICD10:Q42.0|ICD10:Q42.3|ICD10:Q42.2|ICD10:Q42.1																		owl:Class
MONDO:0019938	biolink:NamedThing	anorectal malformation		mondoexuq1wtf												Orphanet:96346|SCTID:33225004|ICD9:751.5|MESH:C537771																		owl:Class
MONDO:0001800	biolink:NamedThing	equatorial staphyloma		mondoexuq1wtf												SCTID:82146006|UMLS:C0155361|DOID:13788|ICD9:379.13|ICD10:H15.81																		owl:Class
MONDO:0001321	biolink:NamedThing	scleral staphyloma		mondoexuq1wtf	scleral ectasia|scleral staphyloma|scleral staphyloma (disease)		scleral staphyloma (disease)			Editor note: consider obsoleting as is finding						SCTID:111534007|COHD:436133|DOID:11595|HP:0030854|ICD10:H15.84|UMLS:C0155359|ICD9:379.11																		owl:Class
MONDO:0100085	biolink:NamedThing	cancer of long bone of upper limb	A cancer that involves the upper limb long bone.	mondoexuq1wtf	cancer of long bone of upper extremity|malignant upper limb long bone neoplasm|cancer of long bone of forelimb|long bones of upper limb cancer|cancer of fore limb long bone|malignant neoplasm of upper limb long bone|cancer of upper extremity long bone|cancer of long bone of fore limb							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006957	biolink:NamedThing	root caries	Dental caries involving the tooth root, cementum, or cervical area of the tooth.	mondoexuq1wtf	cementum dental caries|dental caries of root surface|root caries|dental caries of cementum|cementum caries											UMLS:C0162644|EFO:1001163|ICD9:521.08|DOID:14089|MESH:D017213|SCTID:30512007																		owl:Class
MONDO:0002233	biolink:NamedThing	enamel caries	A dental caries that involves the enamel.	mondoexuq1wtf	dental caries of enamel|simple dental cavity|enamel dental caries|primary dental caries|dental caries limited to enamel											ICD9:521.01|DOID:217|SCTID:80353004|COHD:441049|UMLS:C0266853																		owl:Class
MONDO:0016492	biolink:NamedThing	beta-thalassemia with other manifestations	Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.	mondoexuq1wtf												Orphanet:231386|ICD10:D58.2																		owl:Class
MONDO:0017145	biolink:NamedThing	beta-thalassemia and related diseases		mondoexuq1wtf												ICD10:D56.1|Orphanet:275749|UMLS:CN202571																		owl:Class
MONDO:0019717	biolink:NamedThing	chromosomal disease with overgrowth		mondoexuq1wtf												UMLS:CN206622|Orphanet:93461																		owl:Class
MONDO:0024479	biolink:NamedThing	epithelial tumor of colon	A epithelial neoplasm that involves the colon.	mondoexuq1wtf	colon epithelial neoplasm																													owl:Class
MONDO:0016198	biolink:NamedThing	qualitative or quantitative defects of plectin		mondoexuq1wtf												Orphanet:209196																		owl:Class
MONDO:0005671	biolink:NamedThing	Blastocystis infectious disease	Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.	mondoexuq1wtf	infection, Blastocystis|Blastocystis infection|infections, Blastocystis											MESH:D016776|EFO:0007173|SCTID:721809007																		owl:Class
MONDO:0013200	biolink:NamedThing	hypertrophic cardiomyopathy 15	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, type 15|CMH15|cardiomyopathy, familial hypertrophic, 15|VCL hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 15|hypertrophic cardiomyopathy caused by mutation in VCL|hypertrophic cardiomyopathy type 15											UMLS:C2750459|MESH:C567681|OMIM:613255|DOID:0110321																		owl:Class
MONDO:0007463	biolink:NamedThing	distal osteosclerosis		mondoexuq1wtf	distal osteosclerosis|osteosclerosis, distal											UMLS:C1852063|MESH:C565093|OMIM:126250																		owl:Class
MONDO:0000705	biolink:NamedThing	Clostridium difficile colitis	A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.	mondoexuq1wtf	C. diff colitis|pseudomembranous colitis|Clostridium difficile infection|Clostridioides difficile caused colitis (disease)|C. diff infection|Clostridioides difficile colitis (disease)											MESH:D004761|EFO:0009130|NCIT:C35286|ICD10:A04.7|DOID:0060185|SCTID:423590009|MedDRA:10009657																		owl:Class
MONDO:0007624	biolink:NamedThing	Flynn-Aird syndrome	Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.	mondoexuq1wtf	Flynn Aird syndrome|Flynn-Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental											ICD10:Q87.8|UMLS:C0343108|MESH:C537066|SCTID:239056006|OMIM:136300|GARD:0002347|Orphanet:2047														https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome				owl:Class
MONDO:0010568	biolink:NamedThing	Aicardi syndrome	Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.	mondoexuq1wtf	corpus callosum agenesis of with chorioretinal abnormality|AIC|Aicardi syndrome|agenesis of corpus callosum with chorioretinal abnormality|corpus callosum, agenesis of, with chorioretinal Abnormality											MedDRA:10054935|NCIT:C35256|MESH:D058540|DOID:8461|SCTID:80651009|UMLS:C0175713|Orphanet:50|OMIM:304050|GARD:0005764|ICD10:Q04.0														https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome				owl:Class
MONDO:0001553	biolink:NamedThing	phacolytic glaucoma	An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.	mondoexuq1wtf	endophthalmitis phacoanaphylactica											UMLS:C0152137|ICD9:365.51|COHD:441556|DOID:12570|SCTID:32893002																		owl:Class
MONDO:0003907	biolink:NamedThing	ovarian yolk sac tumor, polyvesicular vitelline pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.	mondoexuq1wtf	polyvesicular vitelline pattern ovarian yolk sac tumor|ovarian yolk sac tumor, polyvesicular vitelline pattern											UMLS:C1518749|DOID:6514|NCIT:C39987																		owl:Class
MONDO:0009015	biolink:NamedThing	corneal dystrophy-perceptive deafness syndrome	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.	mondoexuq1wtf	corneal dystrophy with progressive deafness|Harboyan syndrome|Cdpd1|corneal dystrophy and sensorineural deafness|CDPD|congenital corneal dystrophy, progressive sensorineural deafness|corneal dystrophy and perceptive deafness											OMIM:217400|SCTID:720749004|Orphanet:1490|UMLS:C1857572|ICD10:H18.5|GARD:0001529|DOID:0111620|MESH:C535473																		owl:Class
MONDO:0021271	biolink:NamedThing	villous adenoma of colon	A villous adenoma that involves the colon.	mondoexuq1wtf	colon villous adenoma|villous adenoma of the colon|colonic villous adenoma											NCIT:C3495|UMLS:C0149862|SCTID:309084001																		owl:Class
MONDO:0009624	biolink:NamedThing	microcephaly and chorioretinopathy 1	An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.	mondoexuq1wtf	microcephaly and chorioretinopathy type 1|MCCRP1|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|TUBGCP6 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|autosomal recessive chorioretinopathy-microcephaly syndrome|microcephaly and chorioretinopathy, autosomal recessive, type 1|Pseudotoxoplasmosis syndrome|microcephaly and chorioretinopathy, autosomal recessive, 1											ICD10:Q87.8|OMIM:251270|NCIT:C129306|Orphanet:2518|DOID:0080105																		owl:Class
MONDO:0015313	biolink:NamedThing	choanal atresia, bilateral	Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.	mondoexuq1wtf												ICD10:Q30.0|Orphanet:137920|UMLS:CN199281																		owl:Class
MONDO:0000128	biolink:NamedThing	giant axonal neuropathy	A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.	mondoexuq1wtf						See genetic heterogeneity of OMIM 256850.						UMLS:C1850386|OMIMPS:256850|DC:0000525|MESH:D056768|SCTID:128207002|ICD9:349.89|NCIT:C84728																		owl:Class
MONDO:0011303	biolink:NamedThing	focal segmental glomerulosclerosis 1	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.	mondoexuq1wtf	glomerulosclerosis, focal segmental, 1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|focal segmental glomerulosclerosis 1|focal segmental glomerulosclerosis type 1|FSGS1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|ACTN4 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in ACTN4											ICD10:N04.1|OMIM:603278|MESH:C538457|Orphanet:93213|DOID:0111128																		owl:Class
MONDO:0019927	biolink:NamedThing	growth hormone-producing pituitary gland neoplasm	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.	mondoexuq1wtf	growth hormone secreting neoplasm of pituitary gland|growth hormone secreting neoplasm of pituitary|growth hormone producing tumor of pituitary|growth hormone producing pituitary tumor|growth hormone producing neoplasm of the pituitary|somatotropinoma of the pituitary|growth hormone producing tumor of the pituitary|growth hormone producing tumor|somatotropinoma of pituitary gland|growth hormone producing tumor of pituitary gland|growth hormone secreting tumor of the pituitary gland|somatotropinoma of the pituitary gland|growth hormone-producing pituitary gland neoplasm|growth hormone secreting tumor of pituitary gland|growth hormone secreting pituitary gland tumor|growth hormone secreting tumor of the pituitary|growth hormone secreting neoplasm of the pituitary gland|growth hormone producing pituitary neoplasm|growth hormone producing neoplasm of the pituitary gland|growth hormone secreting pituitary tumor|somatotropinoma|growth hormone secreting pituitary neoplasm|growth hormone producing tumor of the pituitary gland|pituitary somatotropinoma|somatotroph tumor|Growth hormone-producing pituitary gland tumor|growth hormone producing neoplasm of pituitary|growth hormone producing neoplasm of pituitary gland|pituitary gland somatotropinoma|growth hormone producing pituitary gland tumor|growth hormone producing pituitary gland neoplasm|growth hormone secreting neoplasm of the pituitary|somatotroph neoplasm|growth hormone secreting tumor of pituitary|growth hormone secreting pituitary gland neoplasm|somatotropinoma of pituitary											UMLS:C0278864|NCIT:C7911																		owl:Class
MONDO:0030703	biolink:NamedThing	autoimmune vasculitis	An autoimmune form of vasculitis.	mondoexuq1wtf												DOID:0040097|SCTID:427213005|UMLS:C1328843																		owl:Class
MONDO:0006888	biolink:NamedThing	paraneoplastic polyneuropathy	A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.	mondoexuq1wtf	paraneoplastic polyneuropathy											SCTID:77659000|MedDRA:10062289|EFO:1001085|UMLS:C0270932|MESH:D020364|NCIT:C3981|DOID:8681|ICD9:357.3																		owl:Class
MONDO:0010732	biolink:NamedThing	spastic paraparesis-deafness syndrome	Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.	mondoexuq1wtf	familial spastic paraparesis and deafness|Wells-Jankovic syndrome|spastic paraparesis - deafness|spastic paraparesis and deafness											Orphanet:2815|ICD10:G11.4|OMIM:312910|UMLS:C2931291|GARD:0005555|SCTID:715504003|MESH:C536692																		owl:Class
MONDO:0018108	biolink:NamedThing	idiopathic disseminated cytomegalovirus infection		mondoexuq1wtf	idiopathic disseminated CMV infection											UMLS:CN204469|ICD10:B25.8|Orphanet:35062																		owl:Class
MONDO:0018964	biolink:NamedThing	homocystinuria without methylmalonic aciduria	Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	mondoexuq1wtf	methylcobalamin deficiency|functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria											Orphanet:622|ICD10:E72.1|UMLS:C4303479|SCTID:721225009																		owl:Class
MONDO:0014719	biolink:NamedThing	developmental and epileptic encephalopathy, 35		mondoexuq1wtf	ITPA-related encephalopathy|DEE35|epileptic encephalopathy, early infantile, type 35|epileptic encephalopathy, early infantile, 35|EIEE35											DOID:0080458|UMLS:C4225256|ICD10:G40.4|OMIM:616647|Orphanet:457375																		owl:Class
MONDO:0012202	biolink:NamedThing	malaria, mild, susceptibility to		mondoexuq1wtf	susceptibility to mild malaria|Mals|malaria, mild, susceptibility to											OMIM:609148																		owl:Class
MONDO:0021024	biolink:NamedThing	malaria, susceptibility to		mondoexuq1wtf	malaria, Severe, resistance to|malaria, susceptibility to|malaria, Severe, susceptibility to|malaria, resistance to|malaria, cerebral, resistance to|malaria, cerebral, susceptibility to											OMIM:611162																		owl:Class
MONDO:0017990	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.	mondoexuq1wtf	double tachycardia induced by catecholamines|malignant paroxysmal ventricular tachycardia|stress-induced polymorphic ventricular tachycardia|familial polymorphic ventricular tachycardia|multifocal ventricular premature beats|bidirectional tachycardia induced by catecholamine|ventricular tachycardia, catecholaminergic polymorphic|CPVT|polymorphic catecholergic ventricular tachycardia|syncopal paroxysmal tachycardia|catecholamine-induced polymorphic ventricular tachycardia											SCTID:419671004|Orphanet:3286|OMIMPS:604772|MESH:C536334|GARD:0004421|UMLS:C1631597|DOID:0060674|ICD10:I47.2																		owl:Class
MONDO:0020575	biolink:NamedThing	polymorphic ventricular tachycardia	A ventricular tachycardia that is irregular in rate and rhythm.	mondoexuq1wtf	ventricular tachycardia, polymorphic|polymorphic ventricular tachycardia											NCIT:C111648|SCTID:251159007|UMLS:C0344432|HP:0031677																		owl:Class
MONDO:0015026	biolink:NamedThing	cerebroretinal microangiopathy with calcifications and cysts 2	Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.	mondoexuq1wtf	STN1 Coats plus syndrome|Coats plus syndrome caused by mutation in STN1|CRMCC2|cerebroretinal microangiopathy with calcifications and cysts 2|cerebroretinal microangiopathy with calcifications and cysts type 2											UMLS:CN240513|OMIM:617341																		owl:Class
MONDO:0012815	biolink:NamedThing	Coats plus syndrome	Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.	mondoexuq1wtf	cerebroretinal microangiopathy with calcfications and cysts|CRMCC|cerebroretinal microangiopathy with calcifications and cysts											ICD9:348.89|MESH:C567401|UMLS:CN282828|SCTID:711482008|OMIMPS:612199|Orphanet:313838|ICD10:H35.0																		owl:Class
MONDO:0011930	biolink:NamedThing	epilepsy, familial adult myoclonic, 2	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.	mondoexuq1wtf	epilepsy, familial adult myoclonic, 2|benign adult familial myoclonic epilepsy 2|epilepsy, familial adult myoclonic, type 2|cortical myoclonus and epilepsy, autosomal dominant|epilepsy, familial ADULT myoclonic, 2|FAME2|ADRA2B epilepsy, familial adult myoclonic|cortical myoclonic tremor with epilepsy, familial, 2|epilepsy, familial adult myoclonic caused by mutation in ADRA2B											MESH:C564313|OMIM:607876|UMLS:C1842852|DOID:0111692																		owl:Class
MONDO:0007477	biolink:NamedThing	3-M syndrome	3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.	mondoexuq1wtf	three-M slender-boned nanism|gloomy face syndrome|3-M syndrome|Yakut short stature syndrome|dolichospondylic dysplasia|gloomy face syndrome Yakut short stature syndrome, included|three M syndrome 1|Miller-McKusick-Malvaux syndrome|Le Merrer syndrome|3M syndrome|dwarfism with tall vertebrae|Dolichospondylic dysplasia|three M syndrome|3M1|3-MSBN											ICD9:756.59|GARD:0005667|OMIMPS:273750|Orphanet:2616|ICD10:Q87.1|DOID:0060241|SCTID:702342007|MESH:C535314																		owl:Class
MONDO:0011368	biolink:NamedThing	papillary thyroid Microcarcinoma	A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.	mondoexuq1wtf	papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary Microcarcinoma of the thyroid|papillary Microcarcinoma of the thyroid gland|papillary thyroid gland Microcarcinoma											NCIT:C46004|OMIM:603744|ICDO:8341/3|MESH:C563277|UMLS:C1709457																		owl:Class
MONDO:0017895	biolink:NamedThing	familial papillary or follicular thyroid carcinoma	A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.	mondoexuq1wtf	familial nonmedullary thyroid gland carcinoma|familial pure nonmedullary thyroid carcinoma|FNMTC											Orphanet:319487|NCIT:C118829|UMLS:CN227215|UMLS:C3896673|ICD10:C73																		owl:Class
MONDO:0010129	biolink:NamedThing	thymic-renal-anal-lung dysplasia	This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.	mondoexuq1wtf	syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia											MESH:C536907|OMIM:274265|SCTID:723555007|ICD10:Q87.8|UMLS:C1848812|Orphanet:3326|GARD:0005202														https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia				owl:Class
MONDO:0002933	biolink:NamedThing	osteosclerosis	Abnormally high bone density.	mondoexuq1wtf												MESH:D010026|ICD10:Q78.2|DOID:4254|NCIT:C41236|UMLS:C0029464|SCTID:49347007																		owl:Class
MONDO:0014609	biolink:NamedThing	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome		mondoexuq1wtf	cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia|CHOPS|CHOPS syndrome											UMLS:C4085597|Orphanet:444077|EFO:0009031|OMIM:616368|GARD:0012845|SCTID:764455002|ICD10:Q87.8																		owl:Class
MONDO:0001403	biolink:NamedThing	labium majus cancer	A malignant neoplasm involving the labium majora.	mondoexuq1wtf	malignant neoplasm of the labia majora|malignant neoplasm of labium majora|malignant labia majora tumor|malignant neoplasm of labia majora|labium majora cancer|cancer of labium majora|malignant tumor of the labia majora|malignant labium majora neoplasm|malignant labia majora neoplasm|malignant tumor of labia majora											SCTID:363446004|COHD:4178970|ICD9:184.1|ICD10:C51.0|DOID:11905|NCIT:C7638|UMLS:C0496814																		owl:Class
MONDO:0004389	biolink:NamedThing	mite infestation	Infestations with arthropods of the subclass acari, superorder Acariformes.	mondoexuq1wtf												MESH:D008924|ICD9:133.9|ICD9:133|SCTID:240885009|UMLS:C0026229|DOID:7894|ICD10:B88.0|ICD10:B88.9																		owl:Class
MONDO:0002875	biolink:NamedThing	parasitic ectoparasitic infectious disease	Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.	mondoexuq1wtf	ectoparasitism|Infestations, ectoparasitic|ectoparasitic infestation|infestation, ectoparasitic											MESH:D004478|UMLS:C0013578|DOID:4110																		owl:Class
MONDO:0012515	biolink:NamedThing	glaucoma 1, open angle, M		mondoexuq1wtf	GLC1M|glaucoma 1, open angle, M|JOAG1M											UMLS:C1864653|MESH:C566436|OMIM:610535																		owl:Class
MONDO:0020367	biolink:NamedThing	juvenile open angle glaucoma	Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.	mondoexuq1wtf	juvenile glaucoma|childhood glaucoma (disease)|glaucoma (disease) of childhood|JOAG|glaucoma of childhood|pediatric glaucoma (disease)											SCTID:71111008|COHD:433767|DOID:1068|MedDRA:10064032|Orphanet:98977|UMLS:C2981140|ICD9:365.14																		owl:Class
MONDO:0017783	biolink:NamedThing	congenital pancreatic cyst		mondoexuq1wtf	true congenital pancreatic cyst|neonatal congenital pancreatic cyst											Orphanet:313906|ICD10:Q45.2|SCTID:204808002																		owl:Class
MONDO:0003420	biolink:NamedThing	bile duct cystadenoma	An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.	mondoexuq1wtf	bile duct mucinous cystic neoplasm|bile duct cystadenoma|cystadenoma of the bile duct|bile duct cystadenoma (morphologic abnormality)|cystadenoma of bile duct											ICDO:8161/0|DOID:5384|NCIT:C4129|UMLS:C0334285																		owl:Class
MONDO:0007888	biolink:NamedThing	hereditary leiomyomatosis and renal cell cancer	Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.	mondoexuq1wtf	hereditary leiomyomatosis and renal cell carcinoma|HLRCC|familial multiple cutaneous leiomyomas|familial leiomyomatosis|leiomyomatosis and renal cell cancer, hereditary|Reed syndrome|hereditary multiple cutaneous leiomyomas|leiomyomatosis familial|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|hereditary leiomyomatosis with renal carcinoma|multiple cutaneous and uterine leiomyomas|hereditary leiomyomatosis and renal cell cancer|leiomyoma, multiple cutaneous|multiple cutaneous and uterine leiomyomata|MCUL|Reed's syndrome|familial leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell cancer syndrome|multiple cutaneous leiomyomata|familial leiomyomatosis cutis et uteri|hereditary leiomyomatosis|familial leiomyomatosis with renal carcinoma|LRCC											UMLS:C1708350|NCIT:C51302|GARD:0010096|MESH:C535516|ICD10:C64|GARD:0003218|UMLS:CN239164|OMIM:150800|Orphanet:523|UMLS:CN073087														https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer				owl:Class
MONDO:0017132	biolink:NamedThing	hereditary ATTR amyloidosis		mondoexuq1wtf	familial transthyretin-related amyloidosis|familial TTR-related amyloidosis											Orphanet:271861|UMLS:CN227096																		owl:Class
MONDO:0002340	biolink:NamedThing	tactile epilepsy		mondoexuq1wtf												DOID:2550|NCIT:C4687|UMLS:C0393724|SCTID:230449001																		owl:Class
MONDO:0011705	biolink:NamedThing	lymphangioleiomyomatosis	A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.	mondoexuq1wtf	lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lymphangioleiomyomatosis|lymphangio-myomatosis|LAM|lymphangiomyomatosis											ICDO:9174/1|ICD10:J84.81|NCIT:C3725														https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis				owl:Class
MONDO:0005080	biolink:NamedThing	portal hypertension	Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.	mondoexuq1wtf												MESH:D006975|UMLS:C0020541|SCTID:34742003|DOID:10762|ICD9:572.3|ICD10:K76.6|NCIT:C3119|EFO:0000666|GARD:0008229|COHD:192680																		owl:Class
MONDO:0019155	biolink:NamedThing	Leydig cell hypoplasia	Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.	mondoexuq1wtf	46,XY disorder of sex development due to LH resistance or LHB deficiency|Leydig cell agenesis|46,XY disorder of sex development due to LH defects|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Male hypergonadotropic hypogonadism due to LHCGR defect|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY DSD due to LH resistance or LHB deficiency|LH resistance due to LH receptor deactivation											Orphanet:755|MedDRA:10024406|ICD10:Q56.1|GARD:0003244																		owl:Class
MONDO:0005323	biolink:NamedThing	bacterial sexually transmitted disease	Bacterial diseases that are potentially transmitted or propagated by sexual conduct.	mondoexuq1wtf												UMLS:C0036917|EFO:0003955|MESH:D015231																		owl:Class
MONDO:0001950	biolink:NamedThing	corneal ectasia		mondoexuq1wtf												DOID:1436|ICD10:H18.71|COHD:380725|ICD9:371.71|SCTID:14748007|UMLS:C0155135																		owl:Class
MONDO:0016235	biolink:NamedThing	complex vascular malformation with associated anomalies		mondoexuq1wtf	hemangiolymphangioma											Orphanet:211277																		owl:Class
MONDO:0014165	biolink:NamedThing	multiple congenital anomalies-hypotonia-seizures syndrome 3	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	mondoexuq1wtf	glycosylphosphatidylinositol biosynthesis defect 7|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|PIGT-CDG|MCAHS type 3|congenital disorder of glycosylation due to PIGT deficiency|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|MCAHS3|multiple congenital anomalies-hypotonia-seizures syndrome type 3|multiple congenital anomalies-hypotonia-seizures syndrome 3											OMIM:615398|Orphanet:369837|UMLS:C3809356|ICD10:Q87.8|DOID:0080140																		owl:Class
MONDO:0017748	biolink:NamedThing	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation		mondoexuq1wtf	disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation|disorder of glycosphingolipid and GPI-anchored proteins glycosylation											Orphanet:309515|UMLS:CN227194|ICD10:E77.8																		owl:Class
MONDO:0011684	biolink:NamedThing	vitiligo-associated multiple autoimmune disease susceptibility 1		mondoexuq1wtf	systemic lupus erythematosus, vitiligo-related|vitiligo|vitiligo-associated multiple autoimmune disease susceptibility 1|VAMAS1|vitiligo-associated multiple autoimmune disease susceptibility type 1											UMLS:C1847835|OMIM:606579|Orphanet:247871																		owl:Class
MONDO:0003644	biolink:NamedThing	cavernous hemangioma of colon	A cavernous hemangioma arising from the colon.	mondoexuq1wtf	cavernous hemangioma of the colon|colon cavernous hemangioma|cavernous hemangioma of colon|cavernous angioma of the colon|colon cavernous angioma|colonic cavernous hemangioma|colonic cavernous angioma|cavernous angioma of colon											NCIT:C5395|DOID:5775|UMLS:C1333086																		owl:Class
MONDO:0005950	biolink:NamedThing	Salmonella gastroenteritis	Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.	mondoexuq1wtf	Salmonella caused gastroenteritis											MESH:D012478|EFO:0007475|ICD9:003.0|SCTID:42338000|COHD:196328																		owl:Class
MONDO:0000827	biolink:NamedThing	salmonellosis	Infections with bacteria of the genus salmonella.	mondoexuq1wtf	infections, Salmonella|Salmonella infection|rare form of salmonellosis											ICD9:003.9|ICD9:003.8|ICD10:A02.8|ICD10:A02.1|SCTID:302231008|ICD10:A01.2|Orphanet:795|ICD10:A01.0|DOID:0060859|ICD10:A02.0|UMLS:C0036117|ICD10:A01.1|ICD9:003.0|UMLS:CN205993|ICD10:A02.2|COHD:133685|MESH:D012480|ICD10:A02.9|ICD10:A01.4|MedDRA:10039447|ICD10:A01.3|EFO:1001418														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0011266	biolink:NamedThing	myotonic dystrophy type 2	Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.	mondoexuq1wtf	CNBP myotonic dystrophy|myotonic myopathy, proximal|myotonic dystrophy 2|myotonic dystrophy caused by mutation in CNBP|myotonic dystrophy type 2|ricker disease|proximal myotonic dystrophy|dystrophia myotonica type 2|DM2|PROMM|dystrophia myotonica 2|ricker syndrome|proximal myotonic myopathy											NCIT:C84680|Orphanet:606|GARD:0009728|DOID:0050759|ICD10:G71.19|OMIM:602668|ICD9:359.2|ICD10:G71.1														https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2				owl:Class
MONDO:0007747	biolink:NamedThing	isolated hyperchlorhidrosis		mondoexuq1wtf	hyperchlorhidrosis, isolated											OMIM:143860|ICD9:276.9|DOID:0111371|SCTID:709413001|Orphanet:542657																		owl:Class
MONDO:0021026	biolink:NamedThing	genetic epidermal appendage anomaly	An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic epidermal appendage anomaly											Orphanet:183447																		owl:Class
MONDO:0019536	biolink:NamedThing	typical hemolytic-uremic syndrome	Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.	mondoexuq1wtf	Sxt-HUS|hemolytic-uremic syndrome with diarrhea|Shiga-like toxin-associated HUS|D-plus hemolytic uremic syndrome (D+HUS)|typical HUS|D+HUS											UMLS:CN206363|ICD10:D59.3|Orphanet:90038|GARD:0006241														https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus				owl:Class
MONDO:0009623	biolink:NamedThing	Nijmegen breakage syndrome	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.	mondoexuq1wtf	Berlin breakage syndrome|Nonsyndromal microcephaly autosomal recessive with normal intelligence|Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|Nijmegen breakage syndrome|ataxia-telangiectasia, variant 1|immunodeficiency-microcephaly-chromosomal instability syndrome|microcephaly-immunodeficiency-lymphoreticuloma syndrome|immunodeficiency, microcephaly, and chromosomal instability|ataxia-telangiectasia variant V1|Seemanova syndrome|Seemanova syndrome 2|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|microcephaly, normal intelligence and immunodeficiency|microcephaly immunodeficiency lymphoreticuloma|Seemanova syndrome type 2|ataxia-telangiectasia variant V2|NBs|AT V1											OMIM:251260|DOID:7400|GARD:0003904|NCIT:C4692|SCTID:234638009|UMLS:C0398791|MedDRA:10067857|UMLS:CN860323|MESH:D049932|ICD10:Q87.8|Orphanet:647														https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome				owl:Class
MONDO:0004458	biolink:NamedThing	bladder mixed adenocarcinoma		mondoexuq1wtf												UMLS:C1511192|DOID:8096|NCIT:C39839																		owl:Class
MONDO:0015417	biolink:NamedThing	Tessier number 6 facial cleft		mondoexuq1wtf												ICD10:Q18.8|Orphanet:141265																		owl:Class
MONDO:0015415	biolink:NamedThing	oblique facial cleft		mondoexuq1wtf	Orbitofacial cleft											ICD10:Q18.8|Orphanet:141253																		owl:Class
MONDO:0002489	biolink:NamedThing	malignant breast phyllodes tumor	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.	mondoexuq1wtf	malignant phyllodes tumor (morphologic abnormality)|malignant cystosarcoma phyllodes of the breast|malignant phyllodes tumor of breast|phyllodes tumor, malignant (morphologic abnormality)|malignant mammary phyllodes neoplasm|malignant breast phyllodes tumor|breast phyllodes tumor, malignant|phyllodes breast tumor|malignant phyllodes neoplasm|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant phyllodes neoplasm of breast|malignant phyllodes neoplasm of the breast|malignant cystosarcoma phyllodes|malignant phyllodes tumor of the breast|malignant cystosarcoma phyllodes of breast|malignant breast phyllodes neoplasm|phyllodes breast neoplasm|malignant mammary phyllodes tumor|malignant phyllodes breast neoplasm|breast malignant phyllodes tumor											SCTID:254844000|EFO:0008545|NCIT:C4504|ONCOTREE:MPT|DOID:3016																		owl:Class
MONDO:0037003	biolink:NamedThing	malignant phyllodes tumor	A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.	mondoexuq1wtf	malignant phyllodes neoplasm|malignant phyllodes tumor|malignant cystosarcoma phyllodes|phyllodes tumor, malignant											NCIT:C4275|ICDO:9020/3																		owl:Class
MONDO:0008567	biolink:NamedThing	thyroid cancer, nonmedullary, 1		mondoexuq1wtf	nonmedullary thyroid carcinoma, papillary|NMTC1|thyroid cancer, nonmedullary, 1|thyroid cancer, nonmedullary, type 1|papillary carcinoma of thyroid|familial nonmedullary thyroid cancer, papillary											OMIM:188550																		owl:Class
MONDO:0005075	biolink:NamedThing	thyroid gland papillary carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.	mondoexuq1wtf	papillary carcinoma of thyroid|papillary carcinoma of the thyroid|thyroid papillary carcinoma|papillary carcinoma of the thyroid gland|thyroid gland papillary carcinoma|papillary carcinoma of thyroid gland|papillary cancer of thyroid|papillary thyroid gland carcinoma|papillary thyroid cancer|papillary cancer of the thyroid|papillary thyroid carcinoma|papillary cancer of thyroid gland|thyroid gland papillary cancer|papillary cancer of the thyroid gland											UMLS:C0238463|DOID:3969|GARD:0012027|HP:0002895|EFO:0000641|ONCOTREE:THPA|NCIT:C4035|SCTID:255029007																		owl:Class
MONDO:0003376	biolink:NamedThing	mediastinum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	mediastinum leiomyosarcoma|leiomyosarcoma of the mediastinum|mediastinal leiomyosarcoma|leiomyosarcoma of mediastinum											UMLS:C1334660|DOID:5292|NCIT:C6619																		owl:Class
MONDO:0005993	biolink:NamedThing	Trichomonas vaginitis urogenital infection	A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.	mondoexuq1wtf	Trichomonas vaginitis|Trichomonas vaginalis caused disease of genitourinary system|urogenital infection caused by Trichomonas vaginalis|urogenital Trichomonas|Trichomonas vaginalis trichomoniasis|urogenital trichomoniasis|Trichomonas vaginalis disease of genitourinary system|urogenital infection by Trichomonas vaginalis											ICD10:A59.0|ICD9:131.00|EFO:0007521|NCIT:C35083|MESH:D014247|ICD10:A59.00|DOID:0050269|ICD9:131.09|SCTID:35089004																		owl:Class
MONDO:0002154	biolink:NamedThing	trichomoniasis	An infection that is caused by Trichomonas.	mondoexuq1wtf	infections, Trichomonas|Trichomonas infection											ICD9:131.8|SCTID:56335008|ICD9:131|NCIT:C35720|MESH:D014245|UMLS:C0040921|ICD9:131.9|DOID:1947|ICD10:A59.9|ICD10:A59																		owl:Class
MONDO:0005012	biolink:NamedThing	cutaneous melanoma	A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.	mondoexuq1wtf	malignant lower limb melanoma|malignant melanoma of skin of lower limb|melanoma of skin|skin, melanoma|malignant upper limb melanoma|cutaneous (skin) melanoma|malignant melanoma of skin|malignant scalp melanoma|melanoma (disease) of zone of skin|malignant melanoma of skin of upper limb|malignant ear melanoma|melanoma of the skin|zone of skin melanoma|malignant lip melanoma|malignant trunk melanoma|malignant melanoma of skin stage unspecified|malignant neck melanoma|cutaneous melanoma|cutaneous melanoma (disease)|malignant melanoma of skin of trunk except scrotum|malignant melanoma (of skin), stage unspecified|malignant cutaneous melanoma|zone of skin melanoma (disease)|malignant melanoma of ear and/or external auricular canal|skin melanoma		cutaneous melanoma (disease)									ICD10:C43.2|ICD9:172.8|UMLS:C0153536|ICD10:C43.9|EFO:0000389|ICD10:C43.0|ICD9:172.4|ICD9:172|ICD9:172.3|ICD9:172.2|UMLS:C0151779|UMLS:C0153535|ICD9:172.5|ICD10:C43|DOID:8923|ONCOTREE:SKCM|ICD9:172.9|SCTID:93655004|ICD9:172.0|ICD10:C43.4|HP:0012056|NCIT:C3510																		owl:Class
MONDO:0008059	biolink:NamedThing	Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.	mondoexuq1wtf	Naegeli-Franceschetti-Jadassohn syndrome|NFJS|Nfj syndrome|Naegeli syndrome|reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|NAEGELI-Franceschetti-Jadassohn syndrome|NAEGELI syndrome|NFJ syndrome											DOID:0111528|SCTID:239084001|MESH:C538331|ICD10:Q82.4|OMIM:161000|GARD:0003912|Orphanet:69087|UMLS:C0343111																		owl:Class
MONDO:0009790	biolink:NamedThing	Opticocochleodentate degeneration		mondoexuq1wtf	Opticocochleodentate degeneration											MESH:C563002|SCTID:77553008|UMLS:C0520711|ICD9:333.90|OMIM:258700																		owl:Class
MONDO:0013775	biolink:NamedThing	thrombomodulin-related bleeding disorder		mondoexuq1wtf	THBD-related bleeding disorder|thrombophilia due to thrombomodulin defect|thrombomodulin-related coagulopathy|THPH12|THBD-related coagulopathy											MESH:C566057|ICD10:D68.3|Orphanet:436169|OMIM:614486|UMLS:C3280976																		owl:Class
MONDO:0003799	biolink:NamedThing	conjunctivitis	Inflammation of the conjunctiva of the eye.	mondoexuq1wtf	conjunctivitis|conjunctiva inflammation|inflammation of conjunctiva|pink eye|Madras eye|conjunctivitis (disease)		conjunctivitis (disease)									MESH:D003231|ICD9:372.39|COHD:379019|UMLS:C0009763|HP:0000509|NCIT:C34504|DOID:6195|SCTID:9826008|ICD10:H10|ICD10:H10.9|ICD9:372.30																		owl:Class
MONDO:0011688	biolink:NamedThing	muscular dystrophy-dystroglycanopathy type B5	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.	mondoexuq1wtf	MDDGB5|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|congenital muscular dystrophy 1C|muscular dystrophy, congenital, 1C|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5|MDC1C|congenital muscular dystrophy-FKRP related|FKRP-related congenital muscular dystrophy|muscular dystrophy, congenital, FKRP-related											ICD10:G71.2|MESH:C564691|Orphanet:52428|DOID:0110635|OMIM:606612|UMLS:C1847759																		owl:Class
MONDO:0004009	biolink:NamedThing	kidney pelvis sarcomatoid transitional cell carcinoma	An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.	mondoexuq1wtf	infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis|sarcomatoid transitional cell carcinoma of the kidney pelvis|renal pelvis sarcomatoid transitional cell carcinoma|kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of the renal pelvis											DOID:6844|UMLS:C1335752|NCIT:C6186																		owl:Class
MONDO:0005221	biolink:NamedThing	renal pelvis urothelial carcinoma	A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.	mondoexuq1wtf	kidney renal pelvis urothelial cancer|renal pelvis urothelial carcinoma|transitional cell carcinoma of renal pelvis|urothelial cell carcinoma of renal pelvis|urothelial cell carcinoma of the renal pelvis|renal pelvis transitional cell carcinoma|renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis											ICD9:189.0|UMLS:C0238410|SCTID:408642003|EFO:0003017|DOID:5974|NCIT:C7355																		owl:Class
MONDO:0021742	biolink:NamedThing	puerperal infection	An infection occurring in puerperium, the period of 6-8 weeks after giving birth.	mondoexuq1wtf	Infections, Puerperal|Puerperal Infection|Infection, Puerperal|Puerperal Infections											MESH:D011645|EFO:1001407|UMLS:C0034041																		owl:Class
MONDO:0021161	biolink:NamedThing	gonococcal prostatitis	An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	Neisseria gonorrhoeae prostatitis (disease)|Neisseria gonorrhoeae caused prostatitis (disease)											SCTID:197967000|UMLS:C0341755																		owl:Class
MONDO:0020381	biolink:NamedThing	patterned macular dystrophy	Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.	mondoexuq1wtf	patterned dystrophy of retinal pigment epithelium|butterfly-shaped pigmentary macular dystrophy|butterfly-shaped pattern dystrophy|butterfly-shaped pigment dystrophy|macular dystrophy, patterned											OMIMPS:169150|UMLS:C4511237|Orphanet:99001|ICD10:H35.5|UMLS:CN207254|SCTID:725590001|DOID:0060863																		owl:Class
MONDO:0003004	biolink:NamedThing	macular degeneration	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	mondoexuq1wtf	macula lutea retinal degeneration|macular degeneration of retina|retinal degeneration of macula lutea|macula retinal degeneration											DOID:4448|MESH:D008268|SCTID:422338006|UMLS:C0024437|NCIT:C123330																		owl:Class
MONDO:0017168	biolink:NamedThing	benign epithelial tumor of salivary glands		mondoexuq1wtf												ICD10:D11.0|UMLS:CN202592|ICD10:D11.7|Orphanet:276148																		owl:Class
MONDO:0004020	biolink:NamedThing	mediastinal gray zone lymphoma	A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.	mondoexuq1wtf	mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal Gray zone lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma											UMLS:C1334657|DOID:6867|NCIT:C37870																		owl:Class
MONDO:0003658	biolink:NamedThing	B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma	A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.	mondoexuq1wtf	B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|large B-cell lymphoma with Hodgkin features|Gray zone lymphoma|Hodgkin-like anaplastic large cell lymphoma											UMLS:C1333878|NCIT:C37869|GARD:0010897|DOID:5822|ICDO:9596/3														https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma				owl:Class
MONDO:0012960	biolink:NamedThing	intellectual disability, autosomal dominant 5	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.	mondoexuq1wtf	intellectual disability, autosomal dominant type 5|mental retardation, autosomal dominant 5|autosomal dominant intellectual disability 5|mental retardation, autosomal dominant type 5|SYNGAP1-related non-syndromic intellectual disability|intellectual disability, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability 5|SYNGAP1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 5|SYNGAP1 syndrome|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1-related NSID|MRD5											GARD:0012558|MESH:C567234|OMIM:612621|UMLS:C2675473|DOID:0070035																		owl:Class
MONDO:0015919	biolink:NamedThing	syndromic neurometabolic disease with non-X-linked intellectual disability		mondoexuq1wtf												Orphanet:182073|UMLS:CN200517																		owl:Class
MONDO:0004586	biolink:NamedThing	rheumatoid lung disease	Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.	mondoexuq1wtf	rheumatoid lung											ICD9:714.81|DOID:849|COHD:256197|SCTID:398726004|UMLS:C0994344																		owl:Class
MONDO:0021547	biolink:NamedThing	amelogenesis imperfecta type 3B		mondoexuq1wtf	amelogenesis imperfecta, type 3B|AI3B|amelogenesis imperfecta, type IIIB											UMLS:CN373594|DOID:0080243|OMIM:617607																		owl:Class
MONDO:0014733	biolink:NamedThing	Charcot-Marie-Tooth disease type 4K	SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	mondoexuq1wtf	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K|autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|SURF1-related CMT4|Charcot-Marie-Tooth disease, type 4K|CMT4K|Charcot-Marie-Tooth disease, type 4k|SURF1-related Charcot-Marie-Tooth disease type 4|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|SURF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1											SCTID:765047006|OMIM:616684|Orphanet:391351|ICD10:G60.0|DOID:0110187|UMLS:C4225246																		owl:Class
MONDO:0007244	biolink:NamedThing	Caffey disease	Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.	mondoexuq1wtf	Caffey disease|cortical congenital hyperostosis|infantile cortical hyperostosis											OMIM:114000|GARD:0001051|NCIT:C118423|MESH:D006958|ICD10:M89.8|ICD9:756.59|DOID:4257|Orphanet:1310|UMLS:C0020497|SCTID:24752008																		owl:Class
MONDO:0002532	biolink:NamedThing	squamous cell neoplasm	A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.	mondoexuq1wtf	epidermoid cell neoplasm|epidermoid cell tumor|squamous cell tumor|squamous cell tumor (qualifier value)|squamous cell neoplasm											DOID:3168|NCIT:C3792|UMLS:C0206720|MESH:D018307																		owl:Class
MONDO:0012825	biolink:NamedThing	extraskeletal myxoid chondrosarcoma	A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.	mondoexuq1wtf	extraskeletal chondrosarcoma|chondrosarcoma, extraskeletal myxoid|extraosseous chondrosarcoma|myxoid extraosseous chondrosarcoma|EMC|myxoid extraskeletal chondrosarcoma											ICD10:C49.9|NCIT:C27502|UMLS:C1275278|ICD9:171.9|SCTID:404079008|DOID:6496|MESH:C563195|OMIM:612237|ONCOTREE:EMCHS|Orphanet:209916																		owl:Class
MONDO:0018447	biolink:NamedThing	chondromyxoid fibroma	An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.	mondoexuq1wtf	Chondromyxoid fibroma											ICD10:D16.9|UMLS:C0221290|ICDO:9241/0|Orphanet:404507|EFO:0000332|NCIT:C3830																		owl:Class
MONDO:0001873	biolink:NamedThing	geniculate ganglionitis	Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.	mondoexuq1wtf	geniculate ganglionitis|geniculate ganglion inflammation|inflammation of geniculate ganglion											ICD9:351.1|ICD10:G51.1|COHD:376963|UMLS:C0017407|SCTID:72839009|DOID:14075																		owl:Class
MONDO:0003593	biolink:NamedThing	breast liposarcoma	A malignant adipose tissue neoplasm of the breast.	mondoexuq1wtf	breast liposarcoma|liposarcoma of the breast|liposarcoma of breast											UMLS:C1332632|NCIT:C5187|DOID:5701																		owl:Class
MONDO:0011475	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.	mondoexuq1wtf	Charcot Marie Tooth disease type 4B2|CMT 4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|CMT4B2|Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|SBF2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2											MESH:C535421|OMIM:604563|Orphanet:99956|DOID:0110190|GARD:0009200|UMLS:C1858278|SCTID:715800000|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2				owl:Class
MONDO:0010569	biolink:NamedThing	X-linked complicated corpus callosum dysgenesis	X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.	mondoexuq1wtf	X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis|X-linked partial corpus callosum agenesis|corpus callosum, partial agenesis of, X-linked											OMIM:304100|MESH:C564115|Orphanet:1497|GARD:0012526|ICD10:Q04.8|UMLS:C1839909																		owl:Class
MONDO:0017140	biolink:NamedThing	L1 syndrome	L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	mondoexuq1wtf	crash syndrome|corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|L1CAM syndrome											GARD:0012524|ICD10:Q04.8|UMLS:CN118845|Orphanet:275543																		owl:Class
MONDO:0021159	biolink:NamedThing	gonococcal salpingitis	An salpingitis caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	Neisseria gonorrhoeae salpingitis|Neisseria gonorrhoeae caused salpingitis											UMLS:C0341811|SCTID:237038001																		owl:Class
MONDO:0003619	biolink:NamedThing	salpingitis	Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	mondoexuq1wtf	inflammation of fallopian tube|fallopian tube inflammation											SCTID:88157006|MESH:D012488|UMLS:C0036130|ICD10:N70.91|NCIT:C26880|DOID:5733																		owl:Class
MONDO:0004111	biolink:NamedThing	refractory hematologic cancer	A hematologic malignancy that is resistant to treatment.	mondoexuq1wtf	refractory hematologic malignancy|refractory hematologic cancer											DOID:712|UMLS:C1335724|NCIT:C27357																		owl:Class
MONDO:0015605	biolink:NamedThing	distal monosomy 9p	Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	mondoexuq1wtf	distal monosomy type 9p|distal deletion 9p|telomeric deletion 9p|monosomy 9pter											Orphanet:1642|MESH:C538025|ICD10:Q93.5|SCTID:763530000																		owl:Class
MONDO:0016891	biolink:NamedThing	partial deletion of the short arm of chromosome 9		mondoexuq1wtf	partial monosomy of the short arm of chromosome 9|partial monosomy of chromosome 9p|partial deletion of the short arm of chromosome type 9|partial deletion of chromosome 9p											Orphanet:261929|ICD10:Q93.5																		owl:Class
MONDO:0011220	biolink:NamedThing	parkinson disease 3, autosomal dominant		mondoexuq1wtf	Parkinson disease 3, autosomal dominant Lewy body|Parkinson disease type 3|autosomal dominant Parkinson disease|Parkinson disease 3, autosomal dominant|PARK3											OMIM:602404|UMLS:C1865581|MESH:C566552|GARD:0008578|DOID:0111250																		owl:Class
MONDO:0010527	biolink:NamedThing	microphthalmia-ankyloblepharon-intellectual disability syndrome	Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	mondoexuq1wtf	microphthalmia with ankyloblepharon and intellectual disability|Anop1, formerly|syndromic microphthalmia type 4|microphthalmia with ankyloblepharon and mental retardation|microphthalmia syndromic 4|MCOPS4|microphthalmia, syndromic 4|Anop1											MESH:C564457|GARD:0005066|Orphanet:85275|ICD10:Q11.2|SCTID:717222003|OMIM:301590														https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4				owl:Class
MONDO:0011476	biolink:NamedThing	MHC class I deficiency	Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	mondoexuq1wtf	bare lymphocyte syndrome type I|BARE lymphocyte syndrome, type I|Bare lymphocyte syndrome type 1|BLS, type I|Bare lymphocyte syndrome, type 1|immunodeficiency by defective expression of HLA class 1|HLA CLASS I deficiency|BLSI|Bls, type 1|immunodeficiency by defective expression of HLA class type 1|HLA Class 1 deficiency|BLS type 1											SCTID:725136003|GARD:0008427|OMIM:604571|UMLS:C1858266|ICD10:D81.6|Orphanet:34592|DOID:0060009																		owl:Class
MONDO:0019859	biolink:NamedThing	congenital thyroid malformation without hypothyroidism		mondoexuq1wtf												Orphanet:95718|ICD10:Q89.2																		owl:Class
MONDO:0008796	biolink:NamedThing	aniridia-renal agenesis-psychomotor retardation syndrome	Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.	mondoexuq1wtf	Sommer Rathbun Battles syndrome|Sommer-Rathbun-Battles syndrome|aniridia renal agenesis psychomotor retardation|aniridia, partial, with unilateral renal agenesis and psychomotor retardation|aniridia partial with unilateral renal agenesis and psychomotor retardation											GARD:0000690|MESH:C000598722|UMLS:C1859782|SCTID:733116005|Orphanet:1064|ICD10:Q87.8|OMIM:206750																		owl:Class
MONDO:0003976	biolink:NamedThing	malignant type AB thymoma	A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	mondoexuq1wtf	malignant type AB thymoma|thymoma type AB, malignant|malignant thymoma type AB|thymoma, mixed type, malignant											UMLS:C1266093|ICDO:8582/3|DOID:6723|NCIT:C6886																		owl:Class
MONDO:0016975	biolink:NamedThing	thymoma type AB	A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.	mondoexuq1wtf	thymoma, mixed type|thymoma type AB|mixed type thymoma|primary thymic epithelial tumor type AB|primary thymic epithelial neoplasm type AB											DOID:3280|Orphanet:263324|ICDO:8582/1|NCIT:C6885|EFO:1000582|UMLS:C1266092|ICD10:C37|ICD10:D15.0																		owl:Class
MONDO:0010410	biolink:NamedThing	alopecia, androgenetic, 2		mondoexuq1wtf	AGA2|alopecia, androgenetic, 2											UMLS:C2678038|OMIM:300710|MESH:C567473																		owl:Class
MONDO:0005339	biolink:NamedThing	androgenetic alopecia		mondoexuq1wtf	male pattern baldness|alopecia androgenetica, male pattern baldness|androgenetic alopecia|androgenic alopecia											DOID:0050801|ICD9:704.09|SCTID:87872006|GARD:0009269|EFO:0004191																		owl:Class
MONDO:0016428	biolink:NamedThing	multiple sclerosis variant		mondoexuq1wtf												Orphanet:228145																		owl:Class
MONDO:0036779	biolink:NamedThing	axillary neoplasm	A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.	mondoexuq1wtf	neoplasm of axilla|tumor of axilla|axillary neoplasm|axilla neoplasm|axilla tumor											SCTID:126639006|UMLS:C1290308|NCIT:C35749																		owl:Class
MONDO:0014336	biolink:NamedThing	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		mondoexuq1wtf	mental retardation, autosomal dominant type 23|autosomal dominant intellectual disability 23|MRD23|autosomal dominant non-syndromic intellectual disability 23|mental retardation, autosomal dominant 23|intellectual disability, autosomal dominant 23|intellectual disability, autosomal dominant type 23|autosomal dominant mental retardation 23											UMLS:C3810406|Orphanet:404440|ICD10:Q87.0|DOID:0070053|OMIM:615761																		owl:Class
MONDO:0000437	biolink:NamedThing	cerebellar ataxia	A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.	mondoexuq1wtf	ataxia syndrome|cerebellar Dysmetrias|ataxia|ataxias, cerebellar|ataxia, cerebellar|cerebellar Ataxias|cerebellar dysmetria|spinocerebellar Degeneration|spinocerebellar ataxia|rare ataxia					In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare						UMLS:C0087012|NCIT:C82341|ICD9:334.3|DOID:0050753|MESH:D002524|SCTID:85102008|GARD:0012060|COHD:435242|Orphanet:102002																		owl:Class
MONDO:0002427	biolink:NamedThing	cerebellar disease	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.	mondoexuq1wtf	disease of cerebellum|disorder of cerebellum|cerebellum disease|cerebellum disease or disorder|disease or disorder of cerebellum											UMLS:C0007760|DOID:2786|MESH:D002526|SCTID:223176004																		owl:Class
MONDO:0008827	biolink:NamedThing	progressive pseudorheumatoid arthropathy of childhood	Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.	mondoexuq1wtf	spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|PPD|arthropathy, progressive pseudorheumatoid, of childhood|progressive pseudorheumatoid chondrodysplasia|spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid dysplasia|progressive pseudorheumatoid arthropathy of childhood|SEDT-PA|PPAC|spondyloepiphyseal dysplasia tarda with progressive arthropathy											MESH:C535387|OMIM:208230|ICD9:756.9|Orphanet:1159|ICD10:Q77.7|DOID:0090004|SCTID:254065005|GARD:0009184																		owl:Class
MONDO:0032736	biolink:NamedThing	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		mondoexuq1wtf	METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION|MECREN											OMIM:618416																		owl:Class
MONDO:0019276	biolink:NamedThing	inherited epidermolysis bullosa	Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.	mondoexuq1wtf	hereditary epidermolysis bullosa|epidermolysis bullosa hereditaria											ICD10:Q81.0|ICD10:Q81.2|ICD10:Q81.1|ICD9:757.39|ICD10:Q81.8|Orphanet:79361|ICD10:Q81.9|SCTID:402781004																		owl:Class
MONDO:0006541	biolink:NamedThing	epidermolysis bullosa	Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.	mondoexuq1wtf	epidermolysis bullosa|acantholysis bullosa|EB											Wikipedia:Epidermolysis_bullosa|GARD:0006359|MESH:D004820|EFO:1000690|SCTID:61003004|ICD10:Q81.9|ICD9:757.39|DOID:2730|COHD:4246290|NCIT:C67383|ICD10:Q81														https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa				owl:Class
MONDO:0013300	biolink:NamedThing	commissural facial cleft	Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)	mondoexuq1wtf	commissural cleft, isolated|transverse cleft, isolated|macrostomia|macrostomia, isolated|lateral cleft, isolated											Orphanet:141276|MESH:D008265|ICD10:Q18.4|SCTID:40159009|OMIM:613545|ICD9:744.83																		owl:Class
MONDO:0015418	biolink:NamedThing	lateral facial cleft		mondoexuq1wtf	transverse facial cleft|Tessier number 7 facial cleft											ICD10:Q18.8|Orphanet:141269																		owl:Class
MONDO:0009823	biolink:NamedThing	primary hyperoxaluria type 1	A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.	mondoexuq1wtf	hepatic AGT deficiency|primary hyperoxaluria type I|serine:pyruvate aminotransferase deficiency|serine pyruvate aminotransferase deficiency|hyperoxaluria, primary, type I|peroxisomal alanine glyoxylate aminotransferase deficiency|glycolic aciduria|HP1|hyperoxaluria, primary, type 1|AGXT primary hyperoxaluria|peroxisomal alanine-glyoxylate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT|PH1|alanine-glyoxylate aminotransferase deficiency|Oxalosis 1|peroxisomal alanine:glyoxylate aminotransferase deficiency											DOID:0111670|MESH:C536414|GARD:0002835|Orphanet:93598|NCIT:C123212|OMIM:259900|UMLS:C0268164|SCTID:65520001|ICD9:271.8|ICD10:E74.8														https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1|https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0002474	biolink:NamedThing	primary hyperoxaluria	A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.	mondoexuq1wtf	primary hyperoxaluria|hyperoxaluria, primary											OMIMPS:259900|MESH:D006960|ICD10:E72.53|Orphanet:416|NCIT:C123158|DOID:2977|MedDRA:10020703|UMLS:C0020501|SCTID:17901006|ICD9:271.8|ICD10:E74.8																		owl:Class
MONDO:0010501	biolink:NamedThing	syndromic X-linked intellectual disability 34	Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	mondoexuq1wtf	mental retardation, X-linked, syndromic, Mircsof-Langouet type|intellectual disability, X-linked, syndromic type 34|NONO X-linked syndromic intellectual disability|MRXSML|mental retardation, X-linked, syndromic 34|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|MRXS34|syndromic X-linked intellectual disability type 34|intellectual disability, X-linked, syndromic 34|syndromic X-linked mental retardation Mircsof-Langouet type|X-linked syndromic intellectual disability caused by mutation in NONO|syndromic X-linked intellectual disability Mircsof-Langouet type|mental retardation, X-linked, syndromic type 34|macrocephaly-intellectual disability-left ventricular non compaction syndrome											Orphanet:466791|OMIM:300967|DOID:0060817																		owl:Class
MONDO:0013366	biolink:NamedThing	spondylocostal dysostosis 4, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.	mondoexuq1wtf	autosomal recessive spondylocostal dysostosis caused by mutation in Hes7|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|spondylocostal dysostosis 4|HES7 autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 4, autosomal recessive|Hes7 autosomal recessive spondylocostal dysostosis|SCDO4											OMIM:613686|UMLS:C3150942|GARD:0004976																		owl:Class
MONDO:0010180	biolink:NamedThing	autosomal recessive spondylocostal dysostosis	Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.	mondoexuq1wtf	Jarcho-Levin syndrome|SCDO1|costovertebral dysplasia|spondylocostal dysostosis, autosomal recessive|spondylocostal dysostosis 1, autosomal recessive											ICD9:756.9|Orphanet:2311|ICD10:Q76.8|MESH:C535781|UMLS:CN032975|SCTID:61367005																		owl:Class
MONDO:0011398	biolink:NamedThing	dystrophic epidermolysis bullosa pruriginosa	Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.	mondoexuq1wtf	Deb, pruriginosa|dystrophic epidermolysis bullosa pruriginosa|DEB, pruriginosa|DEB-Pr|pruriginous dystrophic epidermolysis bullosa|epidermolysis bullosa pruriginosa											Orphanet:89843|UMLS:C1275114|ICD10:Q81.2|MESH:C563192|ICD9:757.39|SCTID:403810008|OMIM:604129																		owl:Class
MONDO:0021279	biolink:NamedThing	mucoepidermoid carcinoma of submandibular gland	A mucoepidermoid carcinoma that involves the submandibular gland.	mondoexuq1wtf	submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland											NCIT:C5939|SCTID:423424005|UMLS:C1336524																		owl:Class
MONDO:0006286	biolink:NamedThing	major salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	mondoexuq1wtf	major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of the Major salivary gland|major salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of Major salivary gland											UMLS:C1334551|EFO:1000346|NCIT:C5906																		owl:Class
MONDO:0022818	biolink:NamedThing	congenital aneurysms of the great vessels		mondoexuq1wtf												GARD:0001472														https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels				owl:Class
MONDO:0006230	biolink:NamedThing	gastric squamous cell carcinoma	A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.	mondoexuq1wtf	squamous cell carcinoma of the stomach|stomach squamous cell carcinoma|gastric (stomach) squamous cell cancer|gastric squamous cell carcinoma|squamous cell carcinoma of stomach											DOID:5516|EFO:1000278|NCIT:C5475|ICD10:C16.3|Orphanet:418959|SCTID:766980008|UMLS:CN237470|ICD10:C16.8|ICD10:C16.5|ICD10:C16.1|UMLS:C1333789|ICD10:C16.2|ICD10:C16.0|ICD10:C16.4																		owl:Class
MONDO:0029132	biolink:NamedThing	Liddle syndrome 3		mondoexuq1wtf	LIDLS3|Liddle syndrome 3											OMIM:618126																		owl:Class
MONDO:0009495	biolink:NamedThing	Keutel syndrome	Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.	mondoexuq1wtf	pulmonic stenosis, brachytelephalangism, and calcification of cartilages|KTLS|KEUTEL syndrome|pulmonic stenosis brachytelephalangism and calcification of cartilages|Keutel syndrome|pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome											ICD10:Q87.8|GARD:0008449|OMIM:245150|SCTID:724208006|MESH:C536167|Orphanet:85202|UMLS:C1855607														https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome				owl:Class
MONDO:0018215	biolink:NamedThing	paraneoplastic neurologic syndrome	A paraneoplastic syndrome that involves the nervous system.	mondoexuq1wtf	PCD|PNS|nervous system paraneoplastic syndrome|paraneoplastic syndrome of nervous system|paraneoplastic cerebellar degeneration											SCTID:192877007|GARD:0007326|Orphanet:36388|MedDRA:10072106|ICD9:331.89																		owl:Class
MONDO:0009163	biolink:NamedThing	encephalomalacia, multilocular		mondoexuq1wtf	encephalomalacia, multilocular											MESH:C565597|OMIM:225700|UMLS:C1856991																		owl:Class
MONDO:0022037	biolink:NamedThing	large-cell immunoblastic lymphoma	Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.	mondoexuq1wtf	Immunoblastic Lymphoma, Large-Cell|Large-Cell Lymphomas, Immunoblastic|Immunoblastic Large Cell Lymphoma|Large-Cell Immunoblastic Lymphoma|Immunoblastoma|Lymphosarcomas, Diffuse Immunoblastic|Diffuse non-Hodgkin's lymphoma, immunoblastic|Lymphoma, Immunoblastic Large-Cell|Lymphoma, immunoblastic, high grade|Immunoblastic Lymphosarcoma, Diffuse|Sarcomas, Immunoblastic|Lymphomas, Immunoblastic Large-Cell|Malignant lymphoma - immunoblastic|LYMPHOMA IMMUNOBLASTIC LARGE|Sarcoma, Immunoblastic|Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Immunoblastic Sarcoma|Immunoblastic malignant lymphoma - large cell|Lymphoma, Immunoblastic, Large-Cell|Large-Cell Immunoblastic Lymphomas|Lymphoma, Immunoblastic, Large Cell|Lymphomas, Large-Cell Immunoblastic|IMMUNOBLASTIC LARGE LYMPHOMA|Immunoblastic Large-Cell Lymphoma|Lymphoma, Large-Cell Immunoblastic|Large-Cell Lymphoma, Immunoblastic|Immunoblastic Sarcomas|Diffuse Immunoblastic Lymphosarcomas|Diffuse Immunoblastic Lymphosarcoma|Large cell immunoblastic lymphoma|Immunoblastic Lymphoma|LYMPHOMA LARGE IMMUNOBLASTIC|Diffuse non-Hodgkin lymphoma, immunoblastic|Lymphoma, Large Cell, Immunoblastic|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Immunoblastic Large-Cell Lymphomas|Immunoblastomas|LARGE IMMUNOBLASTIC LYMPHOMA|Immunoblastic Lymphomas, Large-Cell|Lymphoma, Large-Cell, Immunoblastic|Immunoblastic Lymphosarcomas, Diffuse|Large Cell Immunoblastic Lymphoma|Lymphosarcoma, Diffuse Immunoblastic											UMLS:C0079746|GARD:0008219|MESH:D016400																		owl:Class
MONDO:0018908	biolink:NamedThing	non-Hodgkin lymphoma	Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.	mondoexuq1wtf	non-Hodgkin's lymphoma|NHL|non-Hodgkin's lymphoma (NHL)|non-Hodgkin lymphoma|non-Hodgkins lymphoma											DOID:0060060|ONCOTREE:NHL|NCIT:C3211|UMLS:C0024305|ICDO:9591/3|EFO:0005952|MedDRA:10029547|Orphanet:547|MESH:D008228																		owl:Class
MONDO:0100204	biolink:NamedThing	parainfluenza virus type 2 infectious disease	A disease caused by infection with parainfluenza virus type 2.	mondoexuq1wtf	infection caused by human parainfluenza virus 2|human rubulavirus 2 infectious disease|infection due to human parainfluenza virus 2					Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.		http://orcid.org/0000-0001-5208-3432				OMOP:4289924														https://github.com/monarch-initiative/mondo/issues/2063				owl:Class
MONDO:0100197	biolink:NamedThing	parainfluenza infectious disease	A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.	mondoexuq1wtf	parainfluenza infectious disorder|HPIV infectious disorder|human parainfluenza virus infectious disorder|human parainfluenza viruses infectious disorder|parainfluenza (disorder)					Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy.		http://orcid.org/0000-0001-5208-3432				OMOP:4008269														https://github.com/monarch-initiative/mondo/issues/2063				owl:Class
MONDO:0007631	biolink:NamedThing	chromosome 16p12.1 deletion syndrome, 520kb	A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.	mondoexuq1wtf	fragile site 16P12|chromosome 16p12.1 deletion syndrome, 520-KB|chromosome 16p12.1 deletion syndrome|fragile site, Distamycin a type, Rare, fra(16)(p12.1)|chromosome 16p12.1 deletion syndrome, type 520kb											NCIT:C129875|DOID:0060399|OMIM:136570|MESH:C565001																		owl:Class
MONDO:0008436	biolink:NamedThing	Sneddon syndrome	Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.	mondoexuq1wtf	livedo reticularis and cerebrovascular accidents|livedo racemosa-cerebrovascular accident syndrome|livedo racemosa and cerebrovascular accidents|Ehrmann-Sneddon syndrome|Sneddon syndrome|Sneddon's syndrome|cerebro-vascular lesions and livedo reticularis|idiopathic livedo reticularis with systemic involvement|livedo reticularis-cerebrovascular accident syndrome											MESH:D018860|MedDRA:10053841|ICD10:I77.8|DOID:13096|SCTID:238776001|EFO:1001186|UMLS:C0282492|GARD:0007664|OMIM:182410|Orphanet:820														https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome				owl:Class
MONDO:0012318	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 1		mondoexuq1wtf	leukemia, chronic lymphocytic, susceptibility to, type 1|Clls1|leukemia, chronic lymphocytic, susceptibility to, 1											OMIM:609630																		owl:Class
MONDO:0021631	biolink:NamedThing	brain astrocytoma	A astrocytoma (excluding glioblastoma) that involves the brain.	mondoexuq1wtf	brain astrocytoma|brain astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of brain											SCTID:254938000|UMLS:C3695127|NCIT:C60780																		owl:Class
MONDO:0019781	biolink:NamedThing	astrocytoma (excluding glioblastoma)	A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.	mondoexuq1wtf	astrocytoma					This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23						SCTID:147101000119108|UMLS:C0004114|ICDO:9400/3|MESH:D001254|NCIT:C60781|ONCOTREE:ASTR																		owl:Class
MONDO:0003142	biolink:NamedThing	intracranial primitive neuroectodermal tumor	A primitive neuroectodermal tumor that involves the brain.	mondoexuq1wtf	intracranial primitive neuroectodermal tumor|intracranial primitive neuroectodermal neoplasm|brain primitive neuroectodermal tumor|intracranial PNET|primitive neuroectodermal tumor of brain											UMLS:C1334246|DOID:4788|NCIT:C5817																		owl:Class
MONDO:0010920	biolink:NamedThing	microtia	Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.	mondoexuq1wtf	congenital microtias|microtia, congenital|M-A|microtias, congenital|anotia|microtia-anotia											COHD:378849|ICD10:Q17.2|Orphanet:83463|MedDRA:10027555|MESH:C537772|OMIM:600674|GARD:0000431|ICD9:744.23|MESH:D065817|SCTID:35045004																		owl:Class
MONDO:0007169	biolink:NamedThing	atherosclerosis susceptibility		mondoexuq1wtf	Atherogenic lipoprotein phenotype|ATHS|atherosclerosis susceptibility											OMIM:108725																		owl:Class
MONDO:0006459	biolink:NamedThing	thymoma type B1	A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.	mondoexuq1wtf	predominantly cortical thymoma|lymphocyte-rich thymoma|thymoma, organoid|organoid thymoma|thymoma type B1|lymphocyte-predominant thymoma										MONDO:0004036	EFO:1000584|DOID:6917|NCIT:C6887|ICDO:8583/1|UMLS:C1266094																		owl:Class
MONDO:0016974	biolink:NamedThing	thymoma type B	An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.	mondoexuq1wtf	dendritic cell thymoma (disease)|plump cell thymoma|thymoma type B|epithelioid thymoma|primary thymic epithelial tumor type B|primary thymic epithelial neoplasm type B|dendritic cell thymoma|Dendritic cell thymoma											UMLS:C1328042|Orphanet:263317|DOID:3282|ICD10:C37|ICD10:D15.0|NCIT:C7114|UMLS:CN202276																		owl:Class
MONDO:0014412	biolink:NamedThing	hyperlipoproteinemia, type 1D	Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.	mondoexuq1wtf	GPIHBP1 familial hyperlipidemia|hyperlipoproteinemia, type ID|familial hyperlipidemia caused by mutation in GPIHBP1											OMIM:615947|UMLS:C4014767|Orphanet:535458|DOID:0111420																		owl:Class
MONDO:0022737	biolink:NamedThing	choroideremia hypopituitarism	This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.	mondoexuq1wtf	choroideremia co-occurrent with hypopituitarism|choroideraemia hypopituitarism|choroideraemia co-occurrent with hypopituitarism|choroideremia hypopituitarism											UMLS:C4275146|SCTID:715417002|GARD:0001312														https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism				owl:Class
MONDO:0036511	biolink:NamedThing	childhood malignant kidney neoplasm	A malignant neoplasm that affects the kidney and occurs in childhood.	mondoexuq1wtf	childhood malignant renal tumor|childhood kidney cancer|pediatric kidney cancer|childhood malignant kidney tumor|childhood malignant renal neoplasm|kidney cancer of childhood|childhood malignant kidney neoplasm											NCIT:C123907|UMLS:C4086162																		owl:Class
MONDO:0015532	biolink:NamedThing	generalized eruptive histiocytosis		mondoexuq1wtf	generalized eruptive histiocytoma											Orphanet:157991|SCTID:110980006|ICD10:D76.3|UMLS:C0347404																		owl:Class
MONDO:0015823	biolink:NamedThing	primary immunodeficiency due to a defect in adaptive immunity		mondoexuq1wtf												Orphanet:179006																		owl:Class
MONDO:0017606	biolink:NamedThing	facial nerve palsy due to herpes zoster infection		mondoexuq1wtf	facial nerve palsy due to VZV|Hunt's syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|facial nerve paralysis due to VZV|Ramsay Hunt syndrome|Hunt syndrome (formerly)											GARD:0007525|ICD10:B02.2+|Orphanet:3020|ICD10:G53.0*																		owl:Class
MONDO:0044843	biolink:NamedThing	torsion dystonia		mondoexuq1wtf	torsion dystonia											SCTID:431034009																		owl:Class
MONDO:0003441	biolink:NamedThing	dystonic disorder	A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.	mondoexuq1wtf	dystonia|dystonia disorders|dystonia disorder|dystonic disease|dystonic disorder											ICD10:G24|MESH:D020821|ICD10:G24.9|HP:0001332|DOID:543|NCIT:C34563|COHD:375800|ICD9:333.90|SCTID:15802004																		owl:Class
MONDO:0004597	biolink:NamedThing	pulmonary embolism and infarction	Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.	mondoexuq1wtf	infarction, pulmonary|lung infarction|pulmonary infarction					Editor note: add terms for pulmonary necrosis						EFO:1001408|ICD9:415.1|SCTID:64662007|ICD9:415.19|DOID:8516|NCIT:C50714|MESH:D054060																		owl:Class
MONDO:0004534	biolink:NamedThing	microglandular adenosis of breast	A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.	mondoexuq1wtf	microglandular adenosis of the breast|breast microglandular adenosis											UMLS:C1334753|DOID:8335|NCIT:C5199																		owl:Class
MONDO:0017384	biolink:NamedThing	acute generalized exanthematous pustulosis	A widespread acute rash characterized by fever and multiple small pustules on a reddish background.	mondoexuq1wtf	toxic pustuloderma|AGEP|pustular drug eruption											SCTID:702617007|MedDRA:10048799|NCIT:C112122|MESH:D056150|Orphanet:293173|ICD9:709.8|UMLS:C0877055																		owl:Class
MONDO:0006068	biolink:NamedThing	ACTH-producing pituitary gland adenoma	An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.	mondoexuq1wtf	ACTH-secreting adenoma of pituitary|adrenocorticotropin secreting adenoma of the pituitary gland|adrenocorticotropin secreting pituitary gland adenoma|adrenocorticotropin producing adenoma of pituitary gland|ACTH secreting adenoma of the pituitary|ACTH-secreting adenoma of pituitary gland|adrenocorticotropin producing adenoma of the pituitary|adrenocorticotropin secreting adenoma of the pituitary|ACTH-producing pituitary adenoma|pituitary ACTH secreting adenoma|corticotroph adenoma|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin secreting adenoma of pituitary|ACTH-producing pituitary gland adenoma|ACTHoma|adrenocorticotropin producing pituitary adenoma|pituitary corticotropin secreting adenoma|pituitary gland ACTH-secreting adenoma|ACTH-secreting adenoma of the pituitary|adrenocorticotropin producing pituitary gland adenoma|adrenocorticotropin secreting pituitary adenoma|corticotropin secreting adenoma of the pituitary|corticotropic adenoma|Corticotropinoma|adrenocorticotropin producing adenoma of the pituitary gland|ACTH producing pituitary gland adenoma|ACTH-secreting adenoma of the pituitary gland|adrenocorticotropin secreting adenoma of pituitary gland|ACTH secreting adenoma of pituitary|corticotropin secreting pituitary gland adenoma|pituitary ACTH-secreting adenoma											NCIT:C7462|EFO:1000066																		owl:Class
MONDO:0007220	biolink:NamedThing	brachydactyly type B1	Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.	mondoexuq1wtf	brachydactyly, type B|ROR2 brachydactyly type B|BDB1|brachydactyly type B caused by mutation in ROR2|brachydactyly, type B1											Orphanet:572385|OMIM:113000|MESH:C566196|DOID:0110969																		owl:Class
MONDO:0019676	biolink:NamedThing	brachydactyly type B	Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.	mondoexuq1wtf												ICD10:Q73.8|Orphanet:93383|GARD:0000985																		owl:Class
MONDO:0008247	biolink:NamedThing	robin sequence-oligodactyly syndrome	Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	Pierre Robin syndrome and oligodactyly|Robin sequence and oligodactyly|Pierre Robin sequence-oligodactyly syndrome											GARD:0004729|OMIM:172880|UMLS:C1868309|MESH:C535688|Orphanet:3104|ICD10:Q87.0																		owl:Class
MONDO:0016462	biolink:NamedThing	isolated agammaglobulinemia	Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	mondoexuq1wtf	nonsyndromic agammaglobulinemia|isolated hypogammaglobulinemia											Orphanet:229717|SCTID:764858009																		owl:Class
MONDO:0006117	biolink:NamedThing	breast diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.	mondoexuq1wtf	breast DLBCL|breast diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of breast											UMLS:C1511306|NCIT:C40375|EFO:1000144																		owl:Class
MONDO:0003661	biolink:NamedThing	breast lymphoma	A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.	mondoexuq1wtf	primary breast lymphoma|lymphoma of breast|breast lymphoma|lymphoma of the breast|malignant lymphoma of breast											NCIT:C4671|DOID:5826|SCTID:278052009|UMLS:C1704251|UMLS:C0349669																		owl:Class
MONDO:0017643	biolink:NamedThing	frontotemporal neurodegeneration with movement disorder		mondoexuq1wtf												Orphanet:306708|UMLS:CN227167																		owl:Class
MONDO:0014289	biolink:NamedThing	macrocephaly-developmental delay syndrome	Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.	mondoexuq1wtf	mental retardation, autosomal recessive type 41|intellectual disability, autosomal recessive type 41|mental retardation, autosomal recessive 41|MRT41|intellectual disability, autosomal recessive 41											UMLS:C3810225|Orphanet:397612|OMIM:615637|ICD10:Q75.3																		owl:Class
MONDO:0006815	biolink:NamedThing	jejunal cancer	A malignant neoplasm involving the jejunum.	mondoexuq1wtf	malignant tumor of jejunum|cancer of jejunum|malignant jejunum neoplasm|jejunum cancer|malignant neoplasm of jejunum											DOID:13499|ICD10:C17.1|SCTID:363404008|EFO:1000998|ICD9:152.1|MedDRA:10023166|UMLS:C0153427																		owl:Class
MONDO:0000956	biolink:NamedThing	small intestine cancer	A primary or metastatic malignant neoplasm involving the small intestine.	mondoexuq1wtf	malignant tumor of the small intestine|malignant small bowel tumor|malignant small intestinal neoplasm|malignant tumor of small bowel|malignant neoplasm of small bowel|malignant neoplasm of the small intestine|malignant small intestine tumor|small intestine cancer|malignant tumor of small intestine|small bowel tumors|malignant neoplasm of small intestine|malignant tumor of the small bowel|malignant neoplasms of the small intestine|malignant neoplasm of the small bowel|malignant small bowel neoplasm|cancer of small intestine|malignant small intestine neoplasm											ICD9:152.9|DOID:10154|NCIT:C7523|ICD10:C17|GARD:0009385|ICD10:C17.9|UMLS:C0153425														https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer				owl:Class
MONDO:0009220	biolink:NamedThing	visceral steatosis, congenital		mondoexuq1wtf	steatosis of liver|White liver disease|fatty liver disease, congenital|fatty metamorphosis of viscera|visceral steatosis, congenital|fatal neonatal hepatic steatosis|visceral steatosis											ICD9:571.8|OMIM:228100|GARD:0008514|SCTID:270881008|COHD:4059290																		owl:Class
MONDO:0004790	biolink:NamedThing	fatty liver disease	A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.	mondoexuq1wtf	fatty liver|hepatic lipidosis|fatty change of liver|steatosis of liver											ICD10:K70.0|SCTID:197321007|MESH:D005234|ICD9:571.8|DOID:9452|SCTID:371330000|EFO:0003934|ICD9:571.0																		owl:Class
MONDO:0011178	biolink:NamedThing	infantile convulsions and choreoathetosis	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.	mondoexuq1wtf	convulsions, familial infantile, with paroxysmal choreoathetosis|ICCA syndrome|convulsions, infantile, with paroxysmal choreoathetosis, familial|PKD/IC|infantile convulsions and paroxysmal choreoathetosis, familial|Icca syndrome|paroxysmal kinesigenic dyskinesia with infantile convulsions|ICCA|paroxysmal kinesigenic dyskinesia and infantile convulsions											GARD:0008553|ICD10:G40.4|NCIT:C126650|MESH:C535522|OMIM:602066|UMLS:C1865926|Orphanet:31709|SCTID:715534008																		owl:Class
MONDO:0004535	biolink:NamedThing	childhood choriocarcinoma of the ovary	A non-gestational choriocarcinoma that arises from the ovary and occurs in children.	mondoexuq1wtf	pediatric choriocarcinoma of ovary|choriocarcinoma of ovary of childhood|childhood ovarian choriocarcinoma|pediatric choriocarcinoma of the ovary|pediatric ovarian choriocarcinoma|childhood choriocarcinoma of ovary											NCIT:C6549|UMLS:C1332987|DOID:8336																		owl:Class
MONDO:0003760	biolink:NamedThing	pediatric ovarian germ cell tumor	A germ cell tumor that arises from the ovary and occurs in children.	mondoexuq1wtf	childhood ovarian germ cell neoplasm|ovarian germ cell tumor|ovarian germ cell tumor of childhood|pediatric ovarian germ cell neoplasm|pediatric ovarian germ cell tumor|childhood ovarian germ cell tumor											DOID:6084|NCIT:C8588|UMLS:C0796664																		owl:Class
MONDO:0021412	biolink:NamedThing	polyp of maxillary sinus	A polyp that involves the maxillary sinus.	mondoexuq1wtf	maxillary sinus polyp|maxillary antral polyp|polyp of the maxillary sinus											NCIT:C3931|ICD9:471.8|UMLS:C0264239|SCTID:29074008																		owl:Class
MONDO:0020749	biolink:NamedThing	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1		mondoexuq1wtf												OMIM:221770																		owl:Class
MONDO:0020137	biolink:NamedThing	frontotemporal degeneration with dementia		mondoexuq1wtf												Orphanet:98535|ICD10:G31.0																		owl:Class
MONDO:0011076	biolink:NamedThing	myofibrillar myopathy 1	Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.	mondoexuq1wtf	cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|myofibrillar myopathy (disease) caused by mutation in DES|desminopathy, primary|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 7|CMD1F and LGMD1D|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|desmin-related myofibrillar myopathy|myopathy, myofibrillar, desmin-related|arrhythmogenic right ventricular cardiomyopathy 7|IBM1|inclusion body myopathy 1, autosomal dominant, formerly|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|DES myofibrillar myopathy (disease)|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desminopathy|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|myofibrillar myopathy type 1|MFM1|inclusion body myopathy 1, autosomal dominant|desmin-related myopathy|myopathy, myofibrillar, type 1|myopathy, myofibrillar, 1|CMD1F and LGMD1D, formerly											OMIM:601419|Orphanet:98909|DOID:0080092|UMLS:C1832370|ICD10:G71.8																		owl:Class
MONDO:0100232	biolink:NamedThing	psoriatic arthritis, susceptibility to	An inherited susceptibility or predisposition to developing psoriatic arthritis.	mondoexuq1wtf	psoriatic arthritis, susceptibility to|psoriatic arthritis, susceptibility																													owl:Class
MONDO:0004074	biolink:NamedThing	ovarian mucinous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	mondoexuq1wtf	ovarian mucinous cystadenofibroma											UMLS:C1518725|DOID:7013|NCIT:C40041																		owl:Class
MONDO:0023415	biolink:NamedThing	congenital candidiasis	A fungal infection by any of the Candida species that is present at birth.	mondoexuq1wtf	Congenital candidosis|Congenital candidiasis|Congenital Candidiasis|congenital candidiasis											MEDGEN:575892|NCIT:C116811|SCTID:276672007|UMLS:C0343875																		owl:Class
MONDO:0032624	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 19		mondoexuq1wtf	MC1DN19|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19											OMIM:618241																		owl:Class
MONDO:0011924	biolink:NamedThing	panic disorder 2		mondoexuq1wtf	panic disorder 2|panic disorder type 2|panic disorder susceptibility locus, chromosome 9Q-related|Pand2											UMLS:C1842922|OMIM:607853																		owl:Class
MONDO:0018701	biolink:NamedThing	congenital nemaline myopathy		mondoexuq1wtf												Orphanet:457074																		owl:Class
MONDO:0023226	biolink:NamedThing	gershinibaruch Leibo syndrome		mondoexuq1wtf												GARD:0002464														https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome				owl:Class
MONDO:0018351	biolink:NamedThing	adenocarcinoma of penis	A adenocarcinoma that involves the penis.	mondoexuq1wtf	adenocarcinoma of the penis|penile adenocarcinoma|penis adenocarcinoma					Editor note: consider merging with Paget disease of penis						ICD10:C60.1|ICD10:C60.8|ICD10:C60.0|Orphanet:398053|ICD10:C60.2|ICD10:C60.9																		owl:Class
MONDO:0012073	biolink:NamedThing	ribose-5-P isomerase deficiency	Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.	mondoexuq1wtf	ribose 5-phosphate isomerase deficiency											ICD9:277.6|SCTID:124667004|Orphanet:440706|OMIM:608611|MESH:C563212|UMLS:C1291609																		owl:Class
MONDO:0019231	biolink:NamedThing	inborn disorder of pentose phosphate metabolism		mondoexuq1wtf	disorder of pentose phosphate metabolism											UMLS:CN227596|ICD10:E74.8|Orphanet:79186																		owl:Class
MONDO:0012123	biolink:NamedThing	congenital disorder of glycosylation type 1E	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.	mondoexuq1wtf	carbohydrate-deficient glycoprotein syndrome type 1E|CDG syndrome type Ie|congenital disorder of glycosylation caused by mutation in DPM1|congenital disorder of glycosylation type 1e|DPM1-CDG|DPM1-CDG (CDG-Ie)|DPM1 congenital disorder of glycosylation|congenital disorder of glycosylation type Ie|congenital disorder of glycosylation, type Ie|CDG1E|CDG 1E|CDG Ie|CDGIe|CDG-Ie|carbohydrate deficient glycoprotein syndrome type Ie|Dol-P-mannosyltransferase deficiency											Orphanet:79322|OMIM:608799|DOID:0080557|SCTID:725078006|MESH:C535743|GARD:0009831|ICD10:E77.8|NCIT:C126871																		owl:Class
MONDO:0020592	biolink:NamedThing	disease of pharynx	A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.	mondoexuq1wtf	chordate pharynx disease|chordate pharynx disease or disorder|disease of chordate pharynx|pharyngeal disease|disorder of chordate pharynx|pharyngeal disorder|disease or disorder of chordate pharynx											NCIT:C26850|SCTID:75860007|GARD:0007266																		owl:Class
MONDO:0031332	biolink:NamedThing	Glanzmann thrombasthenia 1	A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia	mondoexuq1wtf	Diacyclothrombopathia 2B 3A|glycoprotein Complex IIb-IIIa, deficiency of|platelet-type bleeding disorder 2|glycoprotein IIb/IIIa defect|bleeding disorder, Platelet-type, 2|BDPLT2|Glanzmann thrombasthenia type A|thrombasthenia of Glanzmann and Naegeli|deficiency of GP IIb-IIIa complex|Platelet fibrinogen receptor, deficiency of|GT|thrombasthenia|platelet glycoprotein IIb-IIIa deficiency|deficiency of glycoprotein complex IIb-IIIa|GP IIb-IIIa Complex, deficiency of|Thrombocytasthenia|deficiency of platelet fibrinogen receptor|deficiency of GP 2B 3A complex|Glanzmann's thrombasthenia|Glanzmann thrombasthenia|Platelet glycoprotein 2B 3A deficiency|Platelet glycoprotein IIb-IIIa deficiency											NCIT:C61249|MESH:D013915|GARD:0002478|Orphanet:849|ICD10:D69.1|SCTID:32942005|OMIM:273800|DOID:2219																		owl:Class
MONDO:0044764	biolink:NamedThing	benign choroid plexus neoplasm		mondoexuq1wtf	benign choroid plexus neoplasm|benign neoplasm of choroid plexus|benign tumor of choroid plexus|benign choroid plexus tumors|benign neoplasm of the choroid plexus|benign choroid plexus neoplasms|benign tumor of the choroid plexus|benign choroid plexus tumor											NCIT:C8405|UMLS:C0346290|SCTID:254943007																		owl:Class
MONDO:0004305	biolink:NamedThing	parathyroid oncocytic adenoma	A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.	mondoexuq1wtf	parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma											NCIT:C27393|UMLS:C1335351|DOID:7611																		owl:Class
MONDO:0006890	biolink:NamedThing	parathyroid gland adenoma	A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.	mondoexuq1wtf	parathyroid adenoma|adenoma of the parathyroid gland|adenoma of parathyroid gland|parathyroid gland adenoma|adenoma of parathyroid|adenoma of the parathyroid											SCTID:128474007|EFO:1001087|HP:0002897|MedDRA:10033940|DOID:7608|NCIT:C3916|UMLS:C0262587																		owl:Class
MONDO:0043264	biolink:NamedThing	post-traumatic epilepsy	Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)	mondoexuq1wtf	PTE - post-traumatic epilepsy|seizures, early post-traumatic|late post-traumatic seizures|disorders, post-traumatic seizure|impact seizure|concussive convulsion|post-traumatic seizure, late|Epilepsies, traumatic|seizure disorder, post-traumatic|seizures, late post-traumatic|seizure, early post-traumatic|epilepsy, traumatic|post traumatic seizure disorder|post-traumatic seizure disorder|post-traumatic seizure disorders|traumatic Epilepsies|early post-traumatic seizures|post-traumatic seizures, early|post-traumatic seizures, late|late post traumatic seizures|concussive convulsions|post-traumatic epilepsy|disorder, post-traumatic seizure|seizure disorders, post-traumatic|seizure, late post-traumatic|early post-traumatic seizure|traumatic epilepsy|convulsion, concussive|post-traumatic seizure, early|late post-traumatic seizure|Epilepsies, post-traumatic|convulsions, concussive|impact seizures|seizure disorder, post traumatic|early post traumatic seizures|epilepsy, post traumatic|post-traumatic Epilepsies											GARD:0007437|MESH:D004834|UMLS:C0751126|SCTID:75023009																		owl:Class
MONDO:0019838	biolink:NamedThing	adenohypophysitis	An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.	mondoexuq1wtf	inflammation of adenohypophysis|lymphocytic adenohypophysitis|adenohypophysis inflammation|anterior pituitary hypophysitis											Orphanet:95512|ICD10:E23.6																		owl:Class
MONDO:0019263	biolink:NamedThing	autosomal erythropoietic protoporphyria	Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.	mondoexuq1wtf	EPP											Orphanet:79278|ICD10:E80.0|MedDRA:10015289																		owl:Class
MONDO:0001676	biolink:NamedThing	erythropoietic protoporphyria	A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.	mondoexuq1wtf	protoporphyria|EPP (erythropoietic protoporphyria porphyria)											SCTID:51022005|ICD10:E80.0|DOID:13270|OMIMPS:177000|MESH:D046351																		owl:Class
MONDO:0016367	biolink:NamedThing	dermatomyositis	Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.	mondoexuq1wtf	DM|adult dermatomyositis|polymyositis with skin involvement|dermatomyositis|Amyopathic dermatomyositis|dermatopolymyositis											DOID:10223|ICD10:M33.1|ICD10:M33.0|ICD10:M33|EFO:0000398|SCTID:396230008|Orphanet:221|ICD10:M33.9|COHD:80182|MedDRA:10012503|ICD10:M33.90|GARD:0006263|MESH:D003882|NCIT:C26744|ICD9:710.3|UMLS:C0011633																		owl:Class
MONDO:0003180	biolink:NamedThing	cutaneous adenocystic carcinoma	A adenoid cystic carcinoma that involves the skin of body.	mondoexuq1wtf	adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic carcinoma of skin|adenoid cystic carcinoma of the skin|primary cutaneous adenocystic carcinoma|adenoid cystic eccrine carcinoma of skin|adenoid cystic cutaneous carcinoma|skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma|adenoid cystic skin carcinoma											DOID:4871|SCTID:254711000|UMLS:C0346017|NCIT:C4471																		owl:Class
MONDO:0004971	biolink:NamedThing	adenoid cystic carcinoma	A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.	mondoexuq1wtf	adenoid cystic carcinoma|cylindroma|adenoid cystic cancer|cylindroid adenocarcinoma|adenocystic carcinoma|cribriform carcinoma											EFO:0000231|NCIT:C2970|ICDO:8200/3|MESH:D003528|DOID:0080202|UMLS:C0010606|GARD:0005743|ONCOTREE:ACYC																		owl:Class
MONDO:0017822	biolink:NamedThing	mixed functioning pituitary adenoma		mondoexuq1wtf	mixed secreting pituitary adenoma											UMLS:C0346305|SCTID:254961003|Orphanet:314759																		owl:Class
MONDO:0003429	biolink:NamedThing	functioning pituitary gland adenoma	A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.	mondoexuq1wtf	functioning adenoma of pituitary|functioning adenoma of the pituitary gland|functioning pituitary gland adenoma|secretory pituitary adenoma|functioning pituitary adenoma|functioning pituitary gland adenoma (benign)|secretory adenoma of pituitary gland|functioning adenoma of the pituitary|secretory adenoma of the pituitary gland|secretory pituitary gland adenoma|secretory adenoma of the pituitary|secreting pituitary adenoma|functioning adenoma of pituitary gland|secretory adenoma of pituitary|endocrine active pituitary adenoma											DOID:5395|NCIT:C8388|UMLS:C0854486|Orphanet:314753																		owl:Class
MONDO:0007810	biolink:NamedThing	autosomal dominant ichthyosis vulgaris	Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.	mondoexuq1wtf	ichthyosis simplex|dominant ichthyosis vulgaris|dominant congenital ichthyosiform erythroderma|ichthyosis vulgaris|ichthyosis vulgaris, autosomal dominant					Editor note: check orphanet ID from OMIM; check if non-AD form						GARD:0001897|MESH:D016112|ICD10:Q80.0|SCTID:254157005|OMIM:146700|DOID:1702|UMLS:C0079584																		owl:Class
MONDO:0015947	biolink:NamedThing	inherited ichthyosis	An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	ichthyosis congenita|inherited genetic ichthyosis|fish scale disease|genetic ichthyosis|congenital ichthyosis|congenital ichthyosis of skin|fish skin|hereditary ichthyosis (disease)											Orphanet:183435|ICD9:757.1|SCTID:13059002|MedDRA:10021202|ICD10:Q80|COHD:134743																		owl:Class
MONDO:0021726	biolink:NamedThing	abdominal cystic lymphangioma	Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..	mondoexuq1wtf	retroperitoneal cystic lymphangioma|RCL|abdomen cystic lymphangioma|abdominal retroperitoneal lymphangioma											UMLS:C2930929|GARD:0000439|MESH:C535553														https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma				owl:Class
MONDO:0009761	biolink:NamedThing	cystic hygroma	A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.	mondoexuq1wtf	cystic hygroma|cystic hygroma, fetal|macrocystic lymphatic malformation|hygroma|nuchal bleb, familial|cystic lymphangioma											NCIT:C3724|SCTID:399882002|ICD10:D18.1|DOID:3081|GARD:0006234|EFO:1000888|MESH:D018191|MedDRA:10058949|OMIM:257350|ICDO:9173/0|Orphanet:79486																		owl:Class
MONDO:0012109	biolink:NamedThing	hypertension, essential, susceptibility to, 4		mondoexuq1wtf	hypertension, essential, susceptibility to, type 4|Hyt4|hypertension, essential, susceptibility to, 4											UMLS:C1837479|OMIM:608742																		owl:Class
MONDO:0015744	biolink:NamedThing	distal trisomy 19q	Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	mondoexuq1wtf	distal duplication 19q|telomeric duplication 19q|distal trisomy type 19q|trisomy 19qter											ICD10:Q92.3|SCTID:766052008|Orphanet:1717																		owl:Class
MONDO:0016969	biolink:NamedThing	partial duplication of the long arm of chromosome 19		mondoexuq1wtf	partial duplication of the long arm of chromosome type 19|partial trisomy 19q|partial duplication of chromosome 19q|partial trisomy of chromosome 19q|trisomy 19q|19q duplication|partial trisomy of the long arm of chromosome 19|Duplication 19q|chromosome 19q duplication|19q trisomy											MESH:C538311|Orphanet:262986|GARD:0005326|UMLS:C0795871																		owl:Class
MONDO:0004397	biolink:NamedThing	benign mediastinal psammomatous neurilemmoma	A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.	mondoexuq1wtf	benign psammomatous schwannoma of the mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous neurilemmoma of the mediastinum|benign psammomatous schwannoma of mediastinum|benign psammomatous neurilemmoma of mediastinum											DOID:7921|UMLS:C1332513|NCIT:C6636																		owl:Class
MONDO:0016272	biolink:NamedThing	transitional cell carcinoma of the corpus uteri	A transitional cell carcinoma that involves the body of uterus.	mondoexuq1wtf	body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma											Orphanet:213746|ICD10:C54.1																		owl:Class
MONDO:0006474	biolink:NamedThing	transitional cell carcinoma	A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.	mondoexuq1wtf	carcinoma of transitional epithelial cell|transitional cell tumor|carcinoma, urothelial, malignant|transitional cell carcinoma|transitional carcinoma|urothelial cell carcinoma|transitional cell neoplasm|transitional epithelial cell carcinoma|carcinoma of urothelial cell											MESH:D002295|ICDO:8120/3|UMLS:C0007138|NCIT:C2930|DOID:2671|GARD:0007794|EFO:1000601														https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma				owl:Class
MONDO:0014298	biolink:NamedThing	chromosome 5q12 deletion syndrome	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	mondoexuq1wtf	PDE4D haploinsufficiency syndrome|chromosome 5q12 deletion syndrome											UMLS:C3810282|Orphanet:439822|OMIM:615668|DOID:0060421																		owl:Class
MONDO:0011009	biolink:NamedThing	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers		mondoexuq1wtf	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers											OMIM:601170|MESH:C563378|UMLS:C1832665																		owl:Class
MONDO:0014128	biolink:NamedThing	TCF12-related craniosynostosis	Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.	mondoexuq1wtf	TCF12 craniosynostosis|CRS3|craniosynostosis type 3|craniosynostosis caused by mutation in TCF12|craniosynostosis 3											OMIM:615314|UMLS:C3715051														https://github.com/monarch-initiative/mondo/issues/2657				owl:Class
MONDO:0018113	biolink:NamedThing	isolated plagiocephaly	Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.	mondoexuq1wtf	synostotic plagiocephaly|non-syndromic unicoronal synostosis											ICD10:Q67.3|Orphanet:35098																		owl:Class
MONDO:0012110	biolink:NamedThing	growth delay due to insulin-like growth factor type 1 deficiency	Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.	mondoexuq1wtf	growth retardation with sensorineural deafness and intellectual disability|IGF1 deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|primary insulin-like growth factor deficiency|IGF-1 deficiency|insulin-like growth factor I deficiency|insulin-like growth Factor 1 deficiency											MESH:C563867|UMLS:C1837475|UMLS:C4518327|ICD10:E34.3|GARD:0010627|SCTID:724385009|OMIM:608747|Orphanet:73272																		owl:Class
MONDO:0006239	biolink:NamedThing	head and neck paraganglioma	A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.	mondoexuq1wtf	paraganglioma of craniocervical region|craniocervical region paraganglioma|head and neck paraganglioma|paraganglioma of the head and neck|paraganglioma of head and neck											UMLS:C1333944|EFO:1000288|NCIT:C5327																		owl:Class
MONDO:0008746	biolink:NamedThing	oculocutaneous albinism type 2	Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.	mondoexuq1wtf	albinism, oculocutaneous, type II|oculocutaneous albinism tyrosinase positive|oculocutaneous albinism, tyrosinase-positive|oculocutaneous albinism type II|Brown oculocutaneous albinism|tyrosinase-positive oculocutaneous albinism|albinism, oculocutaneous, type 2|Albinoidism|albinism 2|oculocutaneous albinism, type 2|OCA2|albinism, Brown oculocutaneous											UMLS:C0268495|OMIM:203200|ICD10:E70.3|DOID:0070096|MESH:C537730|Orphanet:79432|GARD:0004038														https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2				owl:Class
MONDO:0026765	biolink:NamedThing	congenital disorder of glycosylation, type IIr		mondoexuq1wtf	CDG2R|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr|CDG IIr											OMIM:301045																		owl:Class
MONDO:0021117	biolink:NamedThing	lung neoplasm	A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.	mondoexuq1wtf	lung|neoplasm, pulmonary|lung neoplasm (disease)|neoplasms, lung|lung neoplasms|lung neoplasm|neoplasms, pulmonary|tumor of lung|neoplasm, lung|tumor of the lung|neoplasm of lung|neoplasm of the lung|lung tumor											NCIT:C3200|MESH:D008175|ONCOTREE:LUNG																		owl:Class
MONDO:0018197	biolink:NamedThing	mitochondrial DNA depletion syndrome, hepatocerebrorenal form		mondoexuq1wtf	mtDNA depletion syndrome, hepatocerebrorenal form											UMLS:CN204706|ICD10:E88.8|Orphanet:363534																		owl:Class
MONDO:0018502	biolink:NamedThing	hereditary gastric cancer	Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.	mondoexuq1wtf	hereditary gastric cancer|hereditary cancer of stomach											Orphanet:423776																		owl:Class
MONDO:0004950	biolink:NamedThing	gastric carcinoma	A carcinoma that arises from epithelial cells of the stomach.	mondoexuq1wtf	malignant neoplasm of fundus of stomach|cancer of fundus of stomach|carcinoma of the stomach|gastric fundus cancer|gastric (stomach) cancer|carcinoma of stomach|malignant tumor of fundus of stomach|malignant fundus of stomach neoplasm|cancer of stomach|cancer of the stomach|gastric carcinoma|stomach cancer|gastric cancer|stomach carcinoma|Ca fundus - stomach|gastric cancer, NOS|fundus of stomach cancer											ICD10:C16.1|DOID:10538|EFO:0000178|NCIT:C4911|ICD9:151.3|SCTID:187741001|UMLS:C0153420|ICD9:230.2|DOID:5517|UMLS:C0699791																		owl:Class
MONDO:0001226	biolink:NamedThing	acute contagious conjunctivitis	Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.	mondoexuq1wtf	conjunctivitis infective|Contagious opthalmia|pinkeye											SCTID:399219006|DOID:11213|ICD9:041.89|NCIT:C35704|UMLS:C1313983																		owl:Class
MONDO:0001214	biolink:NamedThing	acute conjunctivitis	Acute inflammation of the conjunctiva.	mondoexuq1wtf	acute conjunctivitis (disease)|conjunctivitis (disease), acute											ICD9:372.00|NCIT:C35195|UMLS:C0155141|COHD:376707|ICD10:H10.02|SCTID:53726008|ICD9:372.03|DOID:11184																		owl:Class
MONDO:0004987	biolink:NamedThing	urinary bladder neoplasm	A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003	mondoexuq1wtf	bladder tumors|bladder neoplasm|neoplasm of urinary bladder|urinary bladder tumors|tumor of bladder|urinary bladder tumor|urinary bladder neoplasm (disease)|tumor of urinary bladder|neoplasm of bladder|tumor of the bladder|urinary bladder neoplasms|tumor of the urinary bladder|neoplasm of the urinary bladder|neoplasm of the bladder|bladder tumor|urinary bladder neoplasm											ICD9:239.4|COHD:200680|EFO:0000294|NCIT:C2901|UMLS:C0005695|SCTID:126885006																		owl:Class
MONDO:0002224	biolink:NamedThing	malignant ovarian cyst	A cystic cancerous tumor arising from the ovary.	mondoexuq1wtf	malignant ovarian cyst|malignant ovarian cyst (disease)|ovarian cyst (disease), malignant											UMLS:C0235770|NCIT:C3843|DOID:2145																		owl:Class
MONDO:0003282	biolink:NamedThing	ovarian cyst		mondoexuq1wtf	ovarian cyst|corpus luteum cyst|cyst, corpus luteum|corpus luteum cysts|cyst, ovarian|cysts, ovarian|cysts, corpus luteum|ovarian cyst (disease)		ovarian cyst (disease)									HP:0000138|ICD10:N83.2|DOID:5119|SCTID:79883001|ICD9:620.2|MESH:D010048																		owl:Class
MONDO:0006307	biolink:NamedThing	mixed somatotroph-lactotroph pituitary gland adenoma	An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.	mondoexuq1wtf	mixed somatotroph-lactotroph pituitary gland adenoma|Mixed somatotroph and lactotroph adenoma|mixed Somatolactotrope adenoma|mixed somatotroph-lactotroph adenoma|mixed GH-PRL cell adenoma											UMLS:C1709052|NCIT:C45927|EFO:1000383																		owl:Class
MONDO:0006936	biolink:NamedThing	pulmonary valve stenosis	The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.	mondoexuq1wtf												MESH:D011666|EFO:1001138|DOID:6420|MedDRA:10037450																		owl:Class
MONDO:0003628	biolink:NamedThing	pulmonary valve disease	A disease involving the pulmonary valve.	mondoexuq1wtf	pulmonary valve disease|pulmonary valve disorder|disease or disorder of pulmonary valve|disease of pulmonary valve|pulmonary valve disease or disorder|disorder of pulmonary valve											ICD9:424.3|UMLS:C0034087|DOID:5749|NCIT:C78579|SCTID:76267008|COHD:319845																		owl:Class
MONDO:0004827	biolink:NamedThing	esophagus squamous cell papilloma	A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.	mondoexuq1wtf	squamous cell papilloma of esophagus|esophagus squamous cell papilloma|esophagus squamous papilloma|esophageal squamous papilloma|squamous cell papilloma of the esophagus											DOID:959|NCIT:C5344|UMLS:C1333467																		owl:Class
MONDO:0021459	biolink:NamedThing	benign neoplasm of esophagus	A benign neoplasm that involves the esophagus.	mondoexuq1wtf	benign esophagus neoplasm|benign tumor of esophagus|benign esophagus tumor|esophagus benign neoplasm|benign esophageal neoplasm|benign tumor of the esophagus|benign esophageal tumor|benign neoplasm of the esophagus											UMLS:C0153942|ICD9:211.0|NCIT:C3598|ICD10:D13.0|SCTID:92091003																		owl:Class
MONDO:0013489	biolink:NamedThing	autosomal recessive nonsyndromic deafness 89	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in KARS|deafness, autosomal recessive 89|autosomal recessive deafness 89|deafness, autosomal recessive type 89|autosomal recessive nonsyndromic deafness type 89|DFNB89|KARS autosomal recessive nonsyndromic deafness											OMIM:613916|UMLS:C3151351|ICD10:H90.3|DOID:0110534																		owl:Class
MONDO:0008166	biolink:NamedThing	ovalocytosis, hereditary hemolytic, with defective erythropoiesis		mondoexuq1wtf	ovalocytosis, hereditary hemolytic, with defective erythropoiesis											MESH:C563479|UMLS:C1833689|OMIM:166910																		owl:Class
MONDO:0001252	biolink:NamedThing	Plummer disease	Nodular enlargement of the thyroid gland associated with hyperthyroidism.	mondoexuq1wtf	Plummer disease|Plummer's disease|Toxic goiter|toxic nodular goiter											UMLS:C0342127|ICD9:242.30|EFO:0009191|NCIT:C35171|ICD9:242.3|ICD10:E05.2|COHD:134619|DOID:11277|SCTID:57777000																		owl:Class
MONDO:0014969	biolink:NamedThing	isolated sedoheptulokinase deficiency		mondoexuq1wtf	SHPKD|isolated SHPK deficiency|sedoheptulokinase deficiency											UMLS:C1291373|Orphanet:440713|ICD9:277.6|SCTID:124309005|OMIM:617213																		owl:Class
MONDO:0009376	biolink:NamedThing	carbamoyl phosphate synthetase I deficiency disease	Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	mondoexuq1wtf	carbamoyl-phosphate synthetase 1 deficiency|CPS1 deficiency|carbamoyl-phosphate synthetase I deficiency|carbamoyl-phosphate synthetase deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|deficiency disease|carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthase|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|CPS 1 deficiency|carbamyl phosphate synthetase (CPS) deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|CPS1D|carbamoyl phosphate synthetase deficiency|CPS I deficiency											NCIT:C84612|MedDRA:10058297|Orphanet:147|SCTID:62522004|GARD:0007269|OMIM:237300|EFO:0007193|ICD10:E72.2|DOID:9280|MESH:D020165																		owl:Class
MONDO:0001693	biolink:NamedThing	ego-dystonic sexual orientation	A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.	mondoexuq1wtf												ICD9:302.0|DOID:13352|COHD:434903																		owl:Class
MONDO:0001500	biolink:NamedThing	gender identity disorder	A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).	mondoexuq1wtf												ICD9:302.8|EFO:0008587|NCIT:C94362|SCTID:87991007|ICD10:F64.2|DOID:1234|ICD9:302.89|ICD9:302.6|ICD9:302.85																		owl:Class
MONDO:0018027	biolink:NamedThing	duplication/inversion 15q11	Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	Isodicentric chromosome 15 syndrome|non-telomeric tetrasomy 15q|Inv dup(15)|non-distal tetrasomy 15q|inverted duplication 15|Isodicentric 15 chromosome|idic(15)|duplication/inversion 15q11|Duplication/inversion type 15q11|Invdup(15)|chromosome 15q tetrasomy|tetrasomy 15q											Orphanet:3306|ICD10:Q99.8|SCTID:723332005|GARD:0005153|MESH:C580205														https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome				owl:Class
MONDO:0012338	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 4		mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|EIG4|epilepsy, idiopathic generalized, susceptibility to, 4											DOID:0111319|OMIM:609750																		owl:Class
MONDO:0001777	biolink:NamedThing	acute gonococcal cystitis	Acute form of gonococcal cystitis.	mondoexuq1wtf	gonococcal cystitis, acute|acute gonorrhea of bladder|gonococcal cystitis (acute)											UMLS:C0153191|DOID:13690|ICD9:098.11|SCTID:24868007																		owl:Class
MONDO:0001650	biolink:NamedThing	acute cystitis	An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.	mondoexuq1wtf	acute cystitis (disease)|acute cystitis|cystitis, acute		acute cystitis (disease)									NCIT:C26934|COHD:194081|ICD9:595.0|UMLS:C0149523|SCTID:68226007|DOID:13148|ICD10:N30.0																		owl:Class
MONDO:0011365	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, SBBYS type	Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.	mondoexuq1wtf	SBBYSS|Say-Barber-Biesecker-Young-Simpson syndrome|Young-Simpson syndrome|Ohdo syndrome, SBBYS variant|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome											SCTID:699298009|Orphanet:3047|OMIM:603736|DOID:0060290|MESH:C536717|ICD9:759.89|ICD10:Q87.8																		owl:Class
MONDO:0021233	biolink:NamedThing	ear neoplasm	A neoplasm (disease) that involves the ear.	mondoexuq1wtf	tumor of Ear|Ear tumor|ear tumor|neoplasm of ear|Ear neoplasms|tumor of the Ear|ear neoplasm (disease)|tumor of ear|neoplasm of the Ear|neoplasm of Ear											NCIT:C3000																		owl:Class
MONDO:0001818	biolink:NamedThing	facial neuralgia	Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.	mondoexuq1wtf	facial nerve neuralgia|neuralgia of facial nerve											DOID:13865|ICD9:351.8|SCTID:4151000119102|MESH:D005156																		owl:Class
MONDO:0002098	biolink:NamedThing	facial nerve disease	A disease involving the facial nerve.	mondoexuq1wtf	disease or disorder of facial nerve|disorder of facial nerve|disorder of seventh cranial nerve|disorders of the VIIth cranial nerve|facial nerve disorder|disorders of the seventh nerve|facial nerve disease|facial nerve disease or disorder|disease of facial nerve|facial neuropathy											DOID:1756|ICD10:G51|UMLS:C0015464|ICD9:351|ICD9:351.9|MESH:D005155|SCTID:422426003|NCIT:C27594|ICD10:G51.9																		owl:Class
MONDO:0012397	biolink:NamedThing	brachydactyly, coloboma, and anterior segment dysgenesis		mondoexuq1wtf	brachydactyly, coloboma, and anterior segment dysgenesis											OMIM:610023|UMLS:C1864901|MESH:C566484																		owl:Class
MONDO:0007759	biolink:NamedThing	hyperlipidemia, familial combined, LPL related		mondoexuq1wtf	familial combined hyperlipidemia|hyperlipidemia, familial combined|FCHL					Editor note: the OMIM:144250 entry refers to the LPL-caused form						OMIM:144250																		owl:Class
MONDO:0003051	biolink:NamedThing	non specific chronic endometritis	Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.	mondoexuq1wtf	non specific chronic endometritis											UMLS:C1335061|DOID:4560|NCIT:C27625																		owl:Class
MONDO:0024279	biolink:NamedThing	chronic endometritis	A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.	mondoexuq1wtf	endometritis, chronic|chronic endometritis											SCTID:63922003|UMLS:C0238104|NCIT:C102820																		owl:Class
MONDO:0013313	biolink:NamedThing	ectodermal dysplasia-cutaneous syndactyly syndrome		mondoexuq1wtf	ectodermal dysplasia-syndactyly syndrome 2|EDCS|EDSS2											ICD10:Q82.8|OMIM:613576|UMLS:C3150809|Orphanet:247827																		owl:Class
MONDO:0014515	biolink:NamedThing	macular dystrophy with central cone involvement		mondoexuq1wtf	CCMD|macular dystrophy with central cone involvement											OMIM:616170|UMLS:C4015371																		owl:Class
MONDO:0035009	biolink:NamedThing	isolated mesenteric vein thrombosis		mondoexuq1wtf												Orphanet:583861																		owl:Class
MONDO:0033925	biolink:NamedThing	pediatric-onset Graves disease		mondoexuq1wtf												Orphanet:525731																		owl:Class
MONDO:0005364	biolink:NamedThing	Graves disease	Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.	mondoexuq1wtf	parry disease|grave's disease|Graves' disease|exophthalmic goiter|Graves' hyperthyroidism|Basedow's disease|Graves disease|Basedow disease											ICD9:242.0|GARD:0006549|SCTID:353295004|DOID:12361|NCIT:C3071|MESH:D006111|ICD10:E05.0|EFO:0004237														https://rarediseases.info.nih.gov/diseases/6549/graves-disease				owl:Class
MONDO:0021060	biolink:NamedThing	RASopathy	The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.	mondoexuq1wtf	disorder of Ras protein signal transduction|Ras protein signal transduction disease											Orphanet:536391|EFO:1001502																		owl:Class
MONDO:0025459	biolink:NamedThing	rinderpest	A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.	mondoexuq1wtf	plague, cattle|cattle plague											MESH:D012301|UMLS:C0035637																		owl:Class
MONDO:0017683	biolink:NamedThing	methylcobalamin deficiency type cblDv1		mondoexuq1wtf	functional methionine synthase deficiency type cblDv1											ICD10:E72.1|UMLS:CN203574|Orphanet:308380																		owl:Class
MONDO:0007973	biolink:NamedThing	mental and growth retardation with amblyopia		mondoexuq1wtf	mental and growth retardation with amblyopia											OMIM:156190|UMLS:C1835028|MESH:C563591																		owl:Class
MONDO:0054831	biolink:NamedThing	Coffin-Siris syndrome 7		mondoexuq1wtf	CSS7|COFFIN-SIRIS syndrome 7											UMLS:CN248780|OMIM:618027																		owl:Class
MONDO:0008718	biolink:NamedThing	Morvan syndrome	Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	mondoexuq1wtf	limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea											SCTID:763803004|GARD:0009766|EFO:1001897|UMLS:C0751540|Orphanet:83467|ICD10:G60.8																		owl:Class
MONDO:0019161	biolink:NamedThing	pseudohypoaldosteronism type 1	Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.	mondoexuq1wtf	PHA1B|pseudohypoaldosteronism type I autosomal recessive|PHA type 1											ICD10:N25.8|SCTID:43941006|UMLS:C0268436|Orphanet:756|ICD9:275.8|NCIT:C123251																		owl:Class
MONDO:0017102	biolink:NamedThing	isolated focal cortical dysplasia type IIb		mondoexuq1wtf	FCD type IIb											UMLS:CN202460|ICD10:Q04.8|Orphanet:269008																		owl:Class
MONDO:0011818	biolink:NamedThing	isolated focal cortical dysplasia type II		mondoexuq1wtf	focal cortical dysplasia, type II|isolated focal cortical dysplasia type 2|cortical dysplasia of Taylor|focal cortical dysplasia of Taylor, type 2A|cortical dysplasia, Taylor type|FCD 2A|focal cortical dysplasia type II|focal cortical dysplasia, type 2B|FCD type II|FCORD2|focal cortical dysplasia type 2|focal cortical dysplasia of Taylor, type 2B|Fcd2|cortical dysplasia of Taylor without balloon cells|cortical dysplasia of Taylor with balloon cells|focal cortical dysplasia of Taylor|cortical dysplasia of Taylor, dysplasia only|focal cortical dysplasia, type 2A|focal cortical dysplasia, type 2|FCD 2B|FCDT|CDT											MESH:C537067|OMIM:607341|GARD:0010190|ICD10:Q04.8|Orphanet:268994														https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor				owl:Class
MONDO:0011201	biolink:NamedThing	tremor, hereditary essential, 2		mondoexuq1wtf	tremor hereditary essential, 2|tremor, hereditary essential, 2|ETM2											DOID:0111429|MESH:C536546|GARD:0009500|OMIM:602134																		owl:Class
MONDO:0003233	biolink:NamedThing	essential tremor	A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)	mondoexuq1wtf	benign essential tremor|essential hereditary tremor|shaky hand syndrome|tremor, hereditary essential											SCTID:609558009|EFO:0003108|ICD10:G25.0|ICD9:333.1|COHD:43531003|DOID:4990|UMLS:C0270736|OMIMPS:190300|MESH:D020329																		owl:Class
MONDO:0019732	biolink:NamedThing	ALys amyloidosis		mondoexuq1wtf	lysozyme amyloidosis|familial amyloid nephropathy due to lysozyme variant|hereditary renal amyloidosis due to lysozyme variant|hereditary amyloid nephropathy due to lysozyme variant|familial renal amyloidosis due to lysozyme variant											ICD10:E85.0|Orphanet:93561|UMLS:CN206639																		owl:Class
MONDO:0005717	biolink:NamedThing	contagious pustular dermatitis	An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.	mondoexuq1wtf	ecthyma contagiosum|ecthyma, Contagious|sheep pox|scabby mouth|Orf|thistle disease											ICD9:051.2|SCTID:74050005|UMLS:C0013570|MESH:D004474|ICD10:B08.02|DOID:8771|EFO:0007222																		owl:Class
MONDO:0005290	biolink:NamedThing	rhabdomyolysis	A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.	mondoexuq1wtf	rhabdomyolysis (disease)|rhabdomyolysis		rhabdomyolysis (disease)									COHD:4345578|ICD9:728.88|MESH:D012206|EFO:0003867|HP:0003201|SCTID:240131006|NCIT:C118318																		owl:Class
MONDO:0005218	biolink:NamedThing	muscular disease	Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.	mondoexuq1wtf	disease or disorder of muscle organ|disorder of muscle organ|muscle organ disease or disorder|muscle organ disease|disease of muscle organ					Editor note: consider merging with child						MESH:D009135|EFO:0002970|DOID:0080000																		owl:Class
MONDO:0009557	biolink:NamedThing	mandibuloacral dysplasia with type A lipodystrophy	A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.	mondoexuq1wtf	mandibuloacral dysplasia with type A lipodystrophy|craniomandibular Dermatodysostosis|Mandibuloacral dysplasia with type a lipodystrophy, atypical|lipodystrophy, type A, associated with Mandibuloacral dysplasia|MADA|MANDIBULOACRAL dysplasia with type A lipodystrophy											OMIM:248370|UMLS:CN206381|SCTID:109419009|MESH:C535705|UMLS:CN236772|ICD10:Q87.5|GARD:0003374|Orphanet:90153|NCIT:C123417														https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy				owl:Class
MONDO:0016584	biolink:NamedThing	mandibuloacral dysplasia	Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.	mondoexuq1wtf	mandibuloacral dysplasia with lipodystrophy|MAD											Orphanet:2457|GARD:0011893|DC:0000267|UMLS:CN118835|OMIMPS:248370|ICD10:Q87.5																		owl:Class
MONDO:0005342	biolink:NamedThing	IgA glomerulonephritis	Inflammation of a specific segment of glomeruli within the kidney.	mondoexuq1wtf	primary IgA nephropathy|IgA glomerulonephritis|berger's IgA or IgG nephropathy|focal glomerulonephritis|berger's disease|segmental glomerulonephritis|IgA nephropathy											MESH:D005922|ICD9:583.9|SCTID:68779003|DOID:2986|EFO:0004194|UMLS:C0017661|OMIMPS:161950|NCIT:C34643																		owl:Class
MONDO:0018927	biolink:NamedThing	SUNCT syndrome	SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	mondoexuq1wtf	SUNCT headache|short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing											ICD10:G44.8|UMLS:C1262087|MedDRA:10061981|Orphanet:57145|SCTID:725058003|MESH:D050798|NCIT:C85174|GARD:0009257																		owl:Class
MONDO:0003519	biolink:NamedThing	malignant syringoma	A malignant form of syringoma.	mondoexuq1wtf	syringoma, malignant|MAC|syringomatous carcinoma|microcystic adnexal carcinoma|microcystic adnexal carcinoma of skin											ONCOTREE:MAC|SCTID:254712007|NCIT:C7581|UMLS:C0346027|DOID:5569|GARD:0010438																		owl:Class
MONDO:0004901	biolink:NamedThing	lingual-facial-buccal dyskinesia	Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	mondoexuq1wtf	oro-facial dyskinesia											ICD10:G24.4|ICD9:333.82|DOID:9854|SCTID:49386006|UMLS:C0152115																		owl:Class
MONDO:0002495	biolink:NamedThing	colon signet ring cell adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.	mondoexuq1wtf	colonic signet Ring adenocarcinoma|colon signet ring adenocarcinoma|signet Ring cell colon adenocarcinoma|colonic signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the colon|colon signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of colon											DOID:3033|NCIT:C7967|UMLS:C1707436																		owl:Class
MONDO:0002271	biolink:NamedThing	colon adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the colon	mondoexuq1wtf	colonic adenocarcinoma|adenocarcinoma of colon|COAD|adenocarcinoma of the colon|colon adenocarcinoma|adenocarcinoma - colon											NCIT:C4349|DOID:234|UMLS:C0338106|ONCOTREE:COAD|EFO:1001949																		owl:Class
MONDO:0029135	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		mondoexuq1wtf	muscular dystrophy, limb-girdle, autosomal recessive 24|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related|LGMD-POMGNT2 related myopathy|MDDGC8											OMIM:618135																		owl:Class
MONDO:0011742	biolink:NamedThing	hirschsprung disease, susceptibility to, 7		mondoexuq1wtf	HSCR7|Hirschsprung disease, susceptibility to, 7											OMIM:606875																		owl:Class
MONDO:0016610	biolink:NamedThing	idiopathic eosinophilic myositis		mondoexuq1wtf	idiopathic eosinophilia-associated myopathy											Orphanet:247724|ICD10:M60.8																		owl:Class
MONDO:0004183	biolink:NamedThing	axonal neuropathy	Any nerve disorder affecting the axon of a nerve.	mondoexuq1wtf	axon peripheral neuropathy|peripheral neuropathy of axon|axonal neuropathy											UMLS:C0270921|DOID:7319|SCTID:60703000|NCIT:C27301																		owl:Class
MONDO:0000815	biolink:NamedThing	fetal nicotine spectrum disorder	A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.	mondoexuq1wtf												DOID:0060606																		owl:Class
MONDO:0000666	biolink:NamedThing	associative visual agnosia	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.	mondoexuq1wtf	associative agnosia											DOID:0060136																		owl:Class
MONDO:0000685	biolink:NamedThing	visual agnosia	An inability to recognize or interpret objects by sight.	mondoexuq1wtf	visual agnosia|visuoperceptual agnosia|visual agnosia (disease)		visual agnosia (disease)									HP:0030222|NCIT:C35276|SCTID:25762009|DOID:0060155																		owl:Class
MONDO:0017093	biolink:NamedThing	unilateral focal polymicrogyria	Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.	mondoexuq1wtf												Orphanet:268947|ICD10:Q04.3																		owl:Class
MONDO:0017092	biolink:NamedThing	unilateral polymicrogyria	Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	mondoexuq1wtf												SCTID:715905006|ICD10:Q04.3|UMLS:C4024960|Orphanet:268943																		owl:Class
MONDO:0002426	biolink:NamedThing	lung sarcoma	A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.	mondoexuq1wtf	pulmonary sarcoma|lung sarcoma|sarcoma of lung|sarcoma of the lung											DOID:2784|UMLS:C0598790|NCIT:C4860																		owl:Class
MONDO:0010428	biolink:NamedThing	chromosome Xp11.23-p11.22 duplication syndrome	A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.	mondoexuq1wtf	chromosome Xp11.23-p11.22 duplication syndrome|trisomy Xp11.22-p11.23|microduplication Xp11.22-p11.23 syndrome											MESH:C567585|OMIM:300801|Orphanet:217377|ICD10:Q99.8|DOID:0060461|GARD:0012766|SCTID:721881008																		owl:Class
MONDO:0017009	biolink:NamedThing	partial duplication of the short arm of chromosome X		mondoexuq1wtf	partial trisomy of chromosome Xp|partial trisomy of the short arm of chromosome X|partial duplication of chromosome Xp|partial duplication of the short arm of chromosome type X											Orphanet:263775|GARD:0012421|ICD10:Q99.8																		owl:Class
MONDO:0011682	biolink:NamedThing	episodic ataxia type 3	Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	mondoexuq1wtf	episodic ataxia, type 3|ataxia, episodic, with vertigo and tinnitus|EA3|episodic ataxia-vertigo-tinnitus-myokymia syndrome											ICD10:G11.8|OMIM:606554|DOID:0050991|UMLS:C1847839|Orphanet:79135|SCTID:718755009|MESH:C564697																		owl:Class
MONDO:0004645	biolink:NamedThing	cheek mucosa cancer	A malignant neoplasm involving the buccal mucosa.	mondoexuq1wtf	malignant neoplasm of the buccal mucosa|malignant neoplasm of cheek, inner aspect|cancer of buccal mucosa|malignant buccal mucosa neoplasm|malignant tumor of buccal mucosa|malignant tumor of the buccal mucosa|malignant neoplasm of buccal mucosa|malignant buccal mucosa tumor|buccal mucosa cancer											SCTID:363386008|UMLS:C0153373|DOID:8702|NCIT:C9320|ICD10:C06.0|ICD9:145.0																		owl:Class
MONDO:0021241	biolink:NamedThing	buccal mucosa neoplasm	A neoplasm (disease) that involves the buccal mucosa.	mondoexuq1wtf	neoplasm of buccal mucosa|tumor of the buccal mucosa|buccal mucosa neoplasm (disease)|tumor of buccal mucosa|neoplasm of the buccal mucosa|buccal mucosa tumor											SCTID:126802007|NCIT:C4405|UMLS:C0345563																		owl:Class
MONDO:0013111	biolink:NamedThing	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.	mondoexuq1wtf	LFIT|acute infantile liver failure|infantile liver failure caused by mutation in TRMU|TRMU infantile liver failure|transient infantile liver failure|liver failure, infantile, transient|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins					Editor note: add transient course						Orphanet:217371|OMIM:613070|GARD:0010593|ICD10:K72.0|UMLS:C3278664																		owl:Class
MONDO:0003784	biolink:NamedThing	nasal cavity carcinoma in situ	A in situ carcinoma that involves the nasal cavity.	mondoexuq1wtf	carcinoma in situ of nasal cavity|carcinoma in situ of nasal cavities|stage 0 nasal cavity carcinoma aJCC v6|nasal cavity in situ carcinoma|carcinoma in situ of the nasal cavity|stage 0 nasal cavity cancer|stage 0 nasal cavity carcinoma|stage 0 nasal cavity carcinoma aJCC v7|stage 0 carcinoma of nasal cavity|stage 0 carcinoma of the nasal cavity|stage 0 nasal cavity cancer aJCC v6, v7, and v8|nasal cavity carcinoma in situ|stage 0 nasal cavity carcinoma aJCC v8											NCIT:C4589|UMLS:C0347095|SCTID:92663007|DOID:6148|ICD10:D02.3|ICD9:231.8																		owl:Class
MONDO:0003212	biolink:NamedThing	nasal cavity carcinoma	A carcinoma that arises from epithelial cells of the nasal cavity	mondoexuq1wtf	carcinoma of the nasal cavity|carcinoma of nasal cavity|nasal cavity carcinoma|cancer of the nasal cavity|cancer of nasal cavity|nasal cavity cancer											UMLS:C1377785|NCIT:C9336|DOID:4931|SCTID:448990005																		owl:Class
MONDO:0018445	biolink:NamedThing	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome		mondoexuq1wtf	glow syndrome											Orphanet:404476|UMLS:CN226190|ICD10:Q87.3																		owl:Class
MONDO:0009862	biolink:NamedThing	dihydropteridine reductase deficiency	Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.	mondoexuq1wtf	phenylketonuria type 2|hyperphenylalaninemia, BH4-deficient C|hyperphenylalaninemia, BH-4-deficient, C|PKU type 2|hyperphenylalaninemia, BH4-deficient, C|Qdpr deficiency|dihydropteridine reductase deficiency|disorder of 6,7-dihydropteridine reductase activity|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|HPABH4C|DHPR deficiency|hyperphenylalaninemia due to dihydropteridine reductase deficiency|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia, Bh4-deficient, type C											ICD10:E70.1|Orphanet:226|SCTID:58256000|NCIT:C138173|GARD:0004319|OMIM:261630														https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency				owl:Class
MONDO:0020259	biolink:NamedThing	myopathy with eye involvement		mondoexuq1wtf												Orphanet:98689																		owl:Class
MONDO:0017298	biolink:NamedThing	acute zonal occult outer retinopathy	Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.	mondoexuq1wtf	AZOOR											UMLS:C0730298|GARD:0008640|Orphanet:284454|MESH:C538223|ICD9:362.10|SCTID:312929003														https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy				owl:Class
MONDO:0001672	biolink:NamedThing	bronchus cancer	A malignant neoplasm involving the bronchus	mondoexuq1wtf	malignant neoplasm of bronchus and lung, unspecified|malignant neoplasm of bronchus and lung|malignant neoplasm of bronchus|bronchus cancer|cancer of bronchus|malignant bronchus neoplasm|malignant neoplasm of bronchus or lung											ICD9:162.8|ICD10:C34|ICD9:162.9|DOID:1325|ICD10:C34.9|SCTID:363493006																		owl:Class
MONDO:0002807	biolink:NamedThing	bronchial neoplasm	Tumors or cancer of the bronchi.	mondoexuq1wtf	neoplasm of bronchus|bronchus tumor|tumor of bronchus|bronchus neoplasm|bronchial neoplasm|bronchial neoplasm (disease)|bronchus neoplasm (disease)		bronchial neoplasm (disease)									DOID:3906|SCTID:126705004|UMLS:C0006264|MESH:D001984|EFO:1000849|HP:0030077																		owl:Class
MONDO:0010355	biolink:NamedThing	syndromic X-linked intellectual disability Claes-Jensen type		mondoexuq1wtf	MRXSCJ|mental retardation, X-linked, syndromic, JARID1C-related|intellectual disability, X-linked, syndromic, JARID1C-related|syndromic X-linked mental retardation JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type|mental retardation, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability due to JARID1C mutation|syndromic X-linked intellectual disability JARID1C-related|MRXSJ											DOID:0060809|MESH:C564494|SCTID:719161008|ICD10:Q87.8|UMLS:C1845243|Orphanet:85279|UMLS:C4304915|OMIM:300534																		owl:Class
MONDO:0006420	biolink:NamedThing	small intestinal mucosa-associated lymphoid tissue lymphoma	A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.	mondoexuq1wtf	small intestine mucosa-associated lymphoid tissue lymphoma|MALToma of small bowel|mucosa-associated lymphoid tissue lymphoma of small intestine|MALToma of the small intestine|small intestinal mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALToma of small intestine|mucosa-associated lymphoid tissue lymphoma of small bowel|MALT lymphoma of small intestine|small intestine MALToma|small bowel mucosa-associated lymphoid tissue lymphoma|MALT lymphoma of the small bowel|small intestine MALT lymphoma|MALT lymphoma of small bowel|small bowel MALToma|small bowel MALT lymphoma|MALT lymphoma of the small intestine|MALToma of the small bowel|mucosa-associated lymphoid tissue lymphoma of the small intestine											UMLS:C1336004|EFO:1000537|NCIT:C5635																		owl:Class
MONDO:0001852	biolink:NamedThing	small intestine lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.	mondoexuq1wtf	small intestine lymphoma|lymphoma of the small bowel|small bowel lymphoma|primary small intestinal lymphoma|small intestinal lymphoma|lymphoma of small intestine|lymphoma of small bowel|lymphoma of the small intestine											ICD9:202.80|SCTID:449074003|DOID:13996|NCIT:C4007|UMLS:C0278805																		owl:Class
MONDO:0006142	biolink:NamedThing	cervical small cell carcinoma	A small cell carcinoma arising from the cervix.	mondoexuq1wtf	small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix uteri|small cell carcinoma of cervix uteri|uterine cervix small cell carcinoma|Cervical small cell cancer|cervix small cell carcinoma|small cell carcinoma of cervix|small cell carcinoma of uterine cervix|small cell carcinoma of the cervix|cervical small cell carcinoma|cervix uteri small cell carcinoma|SCCE											NCIT:C7982|ONCOTREE:SCCE|DOID:6740|EFO:1000171|UMLS:C0279674																		owl:Class
MONDO:0013819	biolink:NamedThing	intellectual disability, autosomal dominant 14	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.	mondoexuq1wtf	ARID1A Coffin-Siris syndrome|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome caused by mutation in ARID1A|intellectual disability, autosomal dominant type 14|CSS2|COFFIN-SIRIS syndrome 2|mental retardation, autosomal dominant 14|autosomal dominant mental retardation 14|autosomal dominant intellectual disability 14|MRD14|intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 2											DOID:0070044|UMLS:C3553247|OMIM:614607																		owl:Class
MONDO:0001851	biolink:NamedThing	primary lacrimal atrophy		mondoexuq1wtf												ICD9:375.13|COHD:380107|SCTID:17093002|UMLS:C0155229|DOID:1399																		owl:Class
MONDO:0005764	biolink:NamedThing	follicular dendritic cell sarcoma	A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.	mondoexuq1wtf	follicular dendritic cell sarcoma|sarcoma of follicular dendritic cell|follicular dendritic cell tumour|follicular Dendritic cell sarcoma/tumor|follicular Dendritic cell sarcoma											ICD10:C96.4|MESH:D054740|DOID:6262|UMLS:C1260325|EFO:0007276|ICDO:9758/3|ONCOTREE:FDCS|ICDO:9758/1|NCIT:C9281|Orphanet:86902																		owl:Class
MONDO:0017345	biolink:NamedThing	Epstein-Barr virus-associated mesenchymal tumor		mondoexuq1wtf	EBV-associated mesenchymal tumor											Orphanet:289656|UMLS:CN203006																		owl:Class
MONDO:0009984	biolink:NamedThing	late-adult onset retinitis pigmentosa	A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.	mondoexuq1wtf	senile retinitis pigmentosa|retinitis pigmentosa, late-ADULT onset|retinitis pigmentosa, 'Senile'											OMIM:268025|ICD10:H35.5|DOID:0110421|MESH:C564840|UMLS:C1849400																		owl:Class
MONDO:0001820	biolink:NamedThing	focal labyrinthitis	A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.	mondoexuq1wtf	circumscribed labyrinthitis											DOID:13867|UMLS:C0155505|SCTID:61794006|ICD9:386.32																		owl:Class
MONDO:0017841	biolink:NamedThing	autoimmune disease with skin involvement	A hypersensitivity reaction type II disease that involves the skin of body.	mondoexuq1wtf	autoimmune disease of skin and connective tissue|skin of body hypersensitivity reaction type II disease|integument hypersensitivity reaction type II disease											UMLS:CN203818|Orphanet:315350|DOID:0060039																		owl:Class
MONDO:0015188	biolink:NamedThing	metabolic disease with intestinal involvement	A metabolic disease that involves the intestine.	mondoexuq1wtf	metabolic disease of intestine|intestine metabolic disease											UMLS:CN197528|Orphanet:104013																		owl:Class
MONDO:0009004	biolink:NamedThing	combined inflammatory and immunologic defect		mondoexuq1wtf	combined inflammatory and immunologic defect											MESH:C565684|OMIM:216920|UMLS:C1857617																		owl:Class
MONDO:0018131	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion		mondoexuq1wtf	9q21 microdeletion syndrome|Del(9)(q21)											Orphanet:352665|ICD10:Q93.5|UMLS:CN204512																		owl:Class
MONDO:0013013	biolink:NamedThing	question mark ears, isolated		mondoexuq1wtf	Cosman deformity of the auricle|ears, prominent and constricted|auricular cleft, congenital|QME|question MARK ears, isolated|question mark ears, isolated											OMIM:612798																		owl:Class
MONDO:0024642	biolink:NamedThing	gastric neuroendocrine tumor G2	A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.	mondoexuq1wtf	gastric neuroendocrine tumor G2|gastric NET G2											UMLS:C3272407|NCIT:C95880																		owl:Class
MONDO:0015062	biolink:NamedThing	gastric neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.	mondoexuq1wtf	gastric well differentiated endocrine tumor/carcinoma|GNET|gastric well differentiated endocrine tumor|gastric NET G1/2|gastric neuroendocrine tumor|gastric NET|well-differentiated neuroendocrine tumors of the stomach											UMLS:CN197355|ONCOTREE:SWDNET|NCIT:C95871|UMLS:C3272399																		owl:Class
MONDO:0014455	biolink:NamedThing	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		mondoexuq1wtf	cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia|CAGSSS											UMLS:C4014942|OMIM:616007|ICD10:Q87.8|Orphanet:436174																		owl:Class
MONDO:0008613	biolink:NamedThing	Tuftsin deficiency		mondoexuq1wtf	Tuftsin deficiency											UMLS:C0398741|MESH:C562872|SCTID:234584007|OMIM:191150|ICD9:279.03																		owl:Class
MONDO:0009466	biolink:NamedThing	neuronal intestinal pseudoobstruction	Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.	mondoexuq1wtf	Argyrophil myenteric plexus deficiency of|visceral neuropathy, familial, autosomal recessive|nid a|pseudoobstruction, chronic idiopathic intestinal, neuronal type|visceral neuropathy familial|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus, deficiency of|neuronal intestinal dysplasia, type a|intestinal pseudoobstruction due to neuronal disease											ICD10:K59.8|OMIM:243180|MESH:C537394|UMLS:C1855733|Orphanet:99811|GARD:0003969																		owl:Class
MONDO:0018645	biolink:NamedThing	IgG4-related sclerosing cholangitis		mondoexuq1wtf												UMLS:C4302109|SCTID:722870008|Orphanet:447764|ICD10:K83.0																		owl:Class
MONDO:0003098	biolink:NamedThing	mediastinal neural neoplasm	A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.	mondoexuq1wtf	mediastinal neural neoplasm|mediastinal neurogenic neoplasm|mediastinal neurogenic tumor|neurogenic neoplasm of mediastinum|neurogenic neoplasm of the mediastinum|neurogenic tumor of mediastinum|neurogenic tumor of the mediastinum|mediastinal neural tumor|malignant mediastinal neurogenic neoplasm											DOID:4691|NCIT:C6624|UMLS:C1334672																		owl:Class
MONDO:0007770	biolink:NamedThing	hyperpigmentation of Fuldauer and Kuijpers		mondoexuq1wtf	hyperpigmentation of Fuldauer and Kuijpers											MESH:C564164|UMLS:C1840393|OMIM:145200																		owl:Class
MONDO:0014605	biolink:NamedThing	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		mondoexuq1wtf	mental retardation, autosomal dominant type 36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|autosomal dominant mental retardation 36|mental retardation, autosomal dominant 36|MRD36|intellectual disability, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36											Orphanet:457284|OMIM:616362|DOID:0070066																		owl:Class
MONDO:0044726	biolink:NamedThing	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome		mondoexuq1wtf	BILAPES|Cerebrorenal syndrome, Perez type|Birk-Landau-Perez syndrome											OMIM:617595|UMLS:CN353477|Orphanet:505242																		owl:Class
MONDO:0011230	biolink:NamedThing	ossification of the posterior longitudinal ligament of the spine	A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.	mondoexuq1wtf	OPLL|ossification of Posterior longitudinal ligament|ossification of the POSTERIOR longitudinal ligament of spine											MESH:C537143|UMLS:C1865343|EFO:0005895|OMIM:602475|GARD:0009699|SCTID:90448008|DOID:0060887|NCIT:C84975																		owl:Class
MONDO:0017025	biolink:NamedThing	Langerhans cell histiocytosis specific to childhood	Langerhans cell histiocytosis that occurs during childhood.	mondoexuq1wtf	histiocytosis X specific to childhood|Langerhans cell granulomatosis specific to childhood|childhood Langerhans cell histiocytosis|Langerhans cell histiocytosis											Orphanet:264724|UMLS:C3899655|NCIT:C114483																		owl:Class
MONDO:0018310	biolink:NamedThing	Langerhans cell histiocytosis	Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.	mondoexuq1wtf	letterer-Siwe disease of spleen|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|letterer-Siwe disease involving intrapelvic lymph nodes|histiocytosis X|LCH|letterer-Siwe disease of intrathoracic lymph nodes|letterer-Siwe disease involving intra-abdominal lymph nodes|letterer-Siwe disease of intrapelvic lymph nodes|letterer-Siwe disease involving lymph nodes of axilla and upper limb|Langerhans cell histiocytosis, Not otherwise specified|letterer-Siwe disease involving lymph nodes of head, face and neck|Langerhans cell granulomatosis|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease involving spleen|letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|Lch|Langerhans cell histiocytosis, NOS|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving lymph nodes of head, face, and neck|Langerhans cell histiocytosis|letterer-Siwe disease of intra-abdominal lymph nodes|Langerhan's cell histiocytosis|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease involving lymph nodes of multiple sites|Langerhans-cell histiocytosis					We follow NCIT in classifying this as a neoplasm but this may be revisited						ICDO:9752/1|UMLS:C0432552|Orphanet:389|UMLS:C0432548|ICDO:9754/3|NCIT:C3107|MedDRA:10069698|GARD:0006858|COHD:4278365|ICD9:202.5|EFO:1000318|UMLS:C0432554|ICD10:C96.6|ICD10:C96.5|SCTID:65399007|UMLS:C0432550|ICDO:9753/1|ICD9:277.89|UMLS:C0432549|UMLS:C0432551|ICDO:9751/1|ICDO:9751/3|UMLS:C0432547|ONCOTREE:LCH|UMLS:C0019621|ICD10:C96.0|OMIM:604856|UMLS:C0432553|DOID:2571																		owl:Class
MONDO:0011144	biolink:NamedThing	neuronal ceroid lipofuscinosis 6	Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	mondoexuq1wtf	CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|neuronal ceroid lipofuscinosis type 6|CLN6 disease|CLN6 late infantile neuronal ceroid lipofuscinosis|CLN6|ceroid lipofuscinosis, neuronal, type 6|neuronal ceroid lipofuscinosis, late infantile, variant|ceroid lipofuscinosis, neuronal, 6, variable Age at onset|CLN6 disease, late infantile (subtype)|ceroid lipofuscinosis, neuronal, 6|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6|neuronal ceroid lipofuscinosis 6 variable age of onset											DOID:0110729|OMIM:601780|Orphanet:228363|MESH:C566627|ICD10:E75.4|GARD:0001224														https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6				owl:Class
MONDO:0000929	biolink:NamedThing	balloon cell malignant melanoma	A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.	mondoexuq1wtf	balloon cell malignant melanoma of the skin|balloon cell skin melanoma|balloon cell malignant skin melanoma|balloon cell melanoma|balloon cell malignant melanoma of skin|balloon cell cutaneous (skin) melanoma											NCIT:C4227|ICDO:8722/3|DOID:10044|UMLS:C0334426|SCTID:403922007																		owl:Class
MONDO:0003806	biolink:NamedThing	thyroid hyalinizing trabecular adenoma	A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.	mondoexuq1wtf	hyalinizing trabecular adenoma of the thyroid|PLAT|HTAT|thyroid gland hyalinizing trabecular tumor|paraganglioma-like adenoma|hyalinizing trabecular tumor|thyroid hyalinizing trabecular adenoma|hyalinizing trabecular adenoma of thyroid											NCIT:C6846|ONCOTREE:HTAT|ICDO:8336/0|DOID:6203|EFO:1000588|UMLS:C1336751																		owl:Class
MONDO:0020597	biolink:NamedThing	angiokeratoma of scrotum	An angiokeratoma that is located on the scrotum.	mondoexuq1wtf	angiokeratoma of the scrotum|scrotal fordyce-type angiokeratoma|fordyce angiokeratoma|fordyce-type angiokeratoma of the scrotum|scrotum angiokeratoma|scrotal angiokeratoma|angiokeratoma of scrotum|angiokeratoma of fordyce|fordyce-type angiokeratoma of scrotum											NCIT:C7752|SCTID:735082004																		owl:Class
MONDO:0003954	biolink:NamedThing	angiokeratoma of Fordyce	An angiokeratoma that is located on the scrotum or vulva.	mondoexuq1wtf	Fordyce angiokeratoma|Fordyce-type angiokeratoma of scrotum|Fordyce's spot											SCTID:6331000|UMLS:C0263639|DOID:664																		owl:Class
MONDO:0010488	biolink:NamedThing	intellectual disability, X-linked 100	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.	mondoexuq1wtf	KIF4A non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in KIF4A|intellectual disability, X-linked type 100|mental retardation, X-linked 100|mental retardation, X-linked type 100|intellectual disability, X-linked 100|MRX100											UMLS:C3890167|OMIM:300923																		owl:Class
MONDO:0010615	biolink:NamedThing	isolated growth hormone deficiency type III		mondoexuq1wtf	Growth hormone deficiency with hypogammaglobulinemia|X-linked isolated growth hormone deficiency|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|Fleisher syndrome|congenital IGHD type III|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|X-linked IGHD|X-linked agammaglobulinemia and isolated growth hormone deficiency|IGHD III|isolated growth hormone deficiency type 3|isolated growth hormone deficiency, type III|growth hormone deficiency with hypogammaglobulinemia|congenital isolated GH deficiency type III|IGHD3|isolated growth hormone deficiency, type 3|hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|IGHD 3|congenital isolated growth hormone deficiency type III											OMIM:307200|GARD:0003921|SCTID:234533006|ICD10:E23.0|MESH:C537149|DOID:0060875|Orphanet:231692														https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3				owl:Class
MONDO:0017639	biolink:NamedThing	carbon monoxide-induced parkinsonism		mondoexuq1wtf	CO-induced parkinsonism											UMLS:C0393565|ICD10:G21.2|Orphanet:306686|SCTID:230293003																		owl:Class
MONDO:0021095	biolink:NamedThing	parkinsonian disorder	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	mondoexuq1wtf						Editor note: TODO						MESH:D020734																		owl:Class
MONDO:0020103	biolink:NamedThing	constitutional hemolytic anemia due to acanthocytosis		mondoexuq1wtf	constitutional hemolytic anemia due to acanthocytic disorder											Orphanet:98366|ICD10:E78.6																		owl:Class
MONDO:0020101	biolink:NamedThing	constitutional hemolytic anemia due to membrane defect	A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.	mondoexuq1wtf	hemolytic anemia due to membrane defect|anemia due to membrane defect|hemolytic anemia due to erythrocyte membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly											Orphanet:98364|NCIT:C101218|UMLS:CN227780|SCTID:111575000																		owl:Class
MONDO:0017900	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete interferon gamma receptor 2 deficiency|MSMD due to complete IFNgammaR2 deficiency											Orphanet:319547|ICD10:D84.8|UMLS:CN203956																		owl:Class
MONDO:0017897	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.	mondoexuq1wtf	mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency											ICD10:D84.8|Orphanet:319535|UMLS:CN203953																		owl:Class
MONDO:0003754	biolink:NamedThing	Brown-Sequard syndrome	Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.	mondoexuq1wtf	Brown-Squard syndrome|Hemicord syndrome|Hemiparaplegic syndrome|Hemispinal cord syndrome											NCIT:C84601|GARD:0005964|SCTID:27982003|EFO:1001279|MESH:D018437|DOID:606|ICD10:G83.81														https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome				owl:Class
MONDO:0003757	biolink:NamedThing	paraplegia	Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.	mondoexuq1wtf	severe or complete loss of motor function in the lower extremities and lower portions of the trunk|paraplegia, lower											ICD9:344.1|DOID:607|COHD:192606|SCTID:60389000|ICD10:G82.20|ICD10:G82.2|NCIT:C50687|MESH:D010264|UMLS:C0030486|GARD:0007327														https://rarediseases.info.nih.gov/diseases/7327/paraplegia				owl:Class
MONDO:0045052	biolink:NamedThing	benign osteogenic neoplasm	A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.	mondoexuq1wtf	benign osteogenic neoplasm|benign osseous tumor|benign osteogenic tumor|osteogenic neoplasm, benign|benign osseous neoplasm											NCIT:C6602																		owl:Class
MONDO:0045053	biolink:NamedThing	osteogenic neoplasm	A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.	mondoexuq1wtf	osteogenic neoplasm|osteogenic tumor|osseous tumor|osseous neoplasm											NCIT:C6603																		owl:Class
MONDO:0004241	biolink:NamedThing	Osgood-Schlatter disease	Osteochondrosis of the growth plate near the tibial tuberosity.	mondoexuq1wtf	Osteochondrosis of the tibial tubercle|osteochondritis of the tibial tubercle|Osteochondrosis of proximal tibia|juvenile osteochondrosis of tibial tubercle|Osgood-Schlatter's disease|Osgood-Schlatter disease|osteochondritis of tibial tubercle|aseptic necrosis of the tibial tubercle											ICD9:736.89|NCIT:C34874|DOID:7489|ICD10:M93.2|SCTID:430506003|SCTID:72047008|Orphanet:97335|MedDRA:10031130																		owl:Class
MONDO:0013498	biolink:NamedThing	schizophrenia 15	A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.	mondoexuq1wtf	schizophrenia type 15|schizophrenia susceptibility locus, chromosome 22Q13-related|schizophrenia 15 with or without an affective disorder|schizophrenia 15|SCZD15											DOID:0070091|OMIM:613950|UMLS:C3151380																		owl:Class
MONDO:0019520	biolink:NamedThing	syndromic lymphedema	A lymphedema that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with lymphedema|syndromic lymphedema											UMLS:CN227645|Orphanet:89832																		owl:Class
MONDO:0010729	biolink:NamedThing	X-linked intellectual disability, Schimke type	X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.	mondoexuq1wtf	choreoathetosis with intellectual disability X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|choreoathetosis with mental retardation, X-linked|choreoathetosis with mental retardation X- linked|Schimke X-linked mental retardation syndrome|choreoathetosis with intellectual disability, X-linked|Schimke X-linked intellectual disability syndrome											ICD10:Q87.8|GARD:0009288|SCTID:719010001|UMLS:C1839320|OMIM:312840|MESH:C536630|Orphanet:85285																		owl:Class
MONDO:0021360	biolink:NamedThing	tumor of parathyroid gland	A neoplasm (disease) that involves the parathyroid gland.	mondoexuq1wtf	parathyroid gland tumor|neoplasm of the parathyroid gland|parathyroid tumor|tumor of the parathyroid|tumor of parathyroid gland|parathyroid gland neoplasm|parathyroid neoplasm|tumor of parathyroid|neoplasm of parathyroid|tumor of the parathyroid gland|parathyroid gland neoplasm (disease)|neoplasm of the parathyroid|neoplasm of parathyroid gland											NCIT:C3313|SCTID:127020005|ICD9:239.7																		owl:Class
MONDO:0005654	biolink:NamedThing	ascariasis	An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.	mondoexuq1wtf	Ascaris lumbricoides infectious disease|Ascaris lumbricoides caused disease or disorder|ascariasis - roundworm|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides infection											EFO:0007154|ICD10:B77.9|MESH:D001196|SCTID:2435008|UMLS:C0003950|NCIT:C128392|ICD10:B77|ICD9:127.0|COHD:192259|CSP:1248-7284|DOID:456																		owl:Class
MONDO:0018864	biolink:NamedThing	Kikuchi-Fujimoto disease	Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.	mondoexuq1wtf	Kikuchi-Fujimoto's disease|histiocytic necrotizing lymphadenitis|Kikuchi necrotizing lymphadenitis|histiocytic necrotising lymphadenitis|nosocomial Kikuchi's disease|Kikuchi's disease|Kikuchi disease											Orphanet:50918|MESH:D020042|GARD:0006834|NCIT:C71719|SCTID:127217009|UMLS:C0398367|ICD10:I88.1																		owl:Class
MONDO:0001282	biolink:NamedThing	fallopian tube endometriosis	Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.	mondoexuq1wtf	endometriosis (disease) of fallopian tube|endometriosis of fallopian tube|fallopian tube endometriosis (disease)|fallopian tube endometriosis											SCTID:22611009|DOID:11424|ICD10:N80.2|ICD9:617.2|NCIT:C26763|COHD:194420|UMLS:C0014177																		owl:Class
MONDO:0003170	biolink:NamedThing	gliofibroma	An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).	mondoexuq1wtf	gliofibroma (morphologic abnormality)											ICDO:9442/1|DOID:4856|NCIT:C5419|UMLS:C1266178																		owl:Class
MONDO:0000409	biolink:NamedThing	chorioamnionitis	A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.	mondoexuq1wtf	intra-amniotic infection|inflammation of fetal membrane|fetal membrane inflammation											MESH:D002821|SCTID:11612004|DOID:0050697|NCIT:C26720																		owl:Class
MONDO:0017409	biolink:NamedThing	fetal cytomegalovirus syndrome	An infection with the Cytomegalovirus that is present from birth.	mondoexuq1wtf	congenital cytomegalovirus|antenatal CMV infection|congenital Cytomegaloviral infection|antenatal cytomegalovirus infection|CMV antenatal infection|mother-to-child transmission of cytomegalovirus syndrome											GARD:0001409|UMLS:C0349499|GARD:0001480|ICD10:P35.1|NCIT:C122427|Orphanet:294|SCTID:276701009														https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus|https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection				owl:Class
MONDO:0006498	biolink:NamedThing	adenomatous colon polyp	A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.	mondoexuq1wtf	adenomatous polyp of the colon|colonic adenomatous polyp|adenomatous polyp of colon|colon adenomatous polyp											HP:0005227|EFO:1000633|SCTID:428054006|NCIT:C96479																		owl:Class
MONDO:0021400	biolink:NamedThing	polyp of colon	A polyp that involves the colon.	mondoexuq1wtf	colonic polyp|polyp of the colon|colon polyp											SCTID:68496003|ICD10:K63.5|MESH:D003111|NCIT:C2954																		owl:Class
MONDO:0005299	biolink:NamedThing	brain ischemia	Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.	mondoexuq1wtf	brain ischemic disease|ischemic encephalopathy|brain ischemia|ischaemic encephalopathy|ischemia cerebrovascular|cerebrovascular ischemia|ischemic disease of brain											DOID:2316|UMLS:C0007786|NCIT:C78394|ICD9:348.89|MESH:D002545|EFO:0003883|SCTID:389100007																		owl:Class
MONDO:0014694	biolink:NamedThing	spondylocostal dysostosis 6, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.	mondoexuq1wtf	spondylocostal dysostosis 6|SCDO6|spondylocostal dysostosis 6, autosomal recessive|RIPPLY2 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2											OMIM:616566|GARD:0012807|UMLS:C4225279																		owl:Class
MONDO:0000653	biolink:NamedThing	integumentary system cancer	A malignant neoplasm involving the integumental system	mondoexuq1wtf	malignant integumental system neoplasm|cancer of integumental system|malignant neoplasm of integumental system|integumental system cancer											DOID:0060122																		owl:Class
MONDO:0006476	biolink:NamedThing	undifferentiated gallbladder carcinoma	A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.	mondoexuq1wtf	gall bladder undifferentiated carcinoma|undifferentiated carcinoma of the gallbladder|anaplastic carcinoma of the gallbladder|undifferentiated gallbladder cancer|gallbladder undifferentiated carcinoma|anaplastic carcinoma of gallbladder|undifferentiated carcinoma of gallbladder|undifferentiated gallbladder carcinoma|anaplastic gallbladder carcinoma											UMLS:C0279653|NCIT:C9167|EFO:1000604																		owl:Class
MONDO:0016814	biolink:NamedThing	maternally-inherited Leigh syndrome	Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	mondoexuq1wtf	maternally-inherited infantile subacute necrotizing encephalopathy|Leigh disease, maternally inherited|mitochondrial DNA-associated Leigh syndrome|Subacute necrotizing encephalomyelopathy maternally inherited|MILS|maternally-inherited Leigh disease|maternally inherited Leigh syndrome											ICD10:G31.8|GARD:0003671|Orphanet:255210|MESH:C536035|SCTID:717052002																		owl:Class
MONDO:0013721	biolink:NamedThing	complement component 4a deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.	mondoexuq1wtf	C4A deficiency|complement component 4A deficiency|C4AD|complement component 4a deficiency|C4A classic complement early component deficiency|classic complement early component deficiency caused by mutation in C4A											MESH:C565167|ICD10:D84.1|DOID:0060297|OMIM:614380|UMLS:C3280642																		owl:Class
MONDO:0008682	biolink:NamedThing	Denys-Drash syndrome	Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.	mondoexuq1wtf	Wilms tumor and pseudo- or true hermaphroditism|Drash syndrome|pseudohermaphroditism, nephron disorder and Wilms' tumor|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|Denys Drash syndrome|DDS|Denys-Drash syndrome|nephropathy, Wilms tumor, and genital anomalies|nephrotic syndrome type 4|Wilms tumor and pseudohermaphroditism											ICD9:189.0|MESH:D030321|UMLS:C3151568|MedDRA:10070179|ICD10:N04.1|UMLS:C0950121|DOID:3764|GARD:0005576|NCIT:C84668|Orphanet:220|OMIM:194080|SCTID:236385009																		owl:Class
MONDO:0009033	biolink:NamedThing	temtamy syndrome	Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	mondoexuq1wtf	temtamy syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|Temtamy-Shalash syndrome|TEMTAMY syndrome|Dysmorphism, corpus callosum agenesis and colobomas|intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|TEMTYS|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum											ICD10:Q87.8|OMIM:218340|MESH:C536959|SCTID:719947004|NCIT:C148371|GARD:0005688|Orphanet:1777|UMLS:C1857512|DOID:0111621														https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome				owl:Class
MONDO:0001056	biolink:NamedThing	gastric cancer	A primary or metastatic malignant neoplasm involving the stomach.	mondoexuq1wtf	malignant tumor of the stomach|malignant tumor of stomach|malignant neoplasm of lesser curve of stomach|malignant stomach neoplasm|Ca body - stomach|malignant tumor of greater curve of stomach|gastric neoplasm|Ca lesser curvature - stomach|malignant gastric tumor|stomach cancer|malignant tumor of body of stomach|gastric cancer|malignant neoplasm of body of stomach|ca greater curvature of stomach|malignant gastric neoplasm|malignant tumor of lesser curve of stomach|gastric cancer, intestinal|malignant neoplasm of stomach|cancer of stomach|malignant neoplasm of the stomach											DOID:10534|ICD10:C16.5|ICD9:151.9|ICD9:151.6|ICD10:C16.2|NCIT:C9331|DC:0000523|GARD:0007704|OMIM:613659|COHD:443387|ICD9:151|ICD10:C16.9|ICD9:151.4|ICD10:C16.6|ICD10:C16|ICD9:151.5																		owl:Class
MONDO:0019050	biolink:NamedThing	inherited hemoglobinopathy	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	mondoexuq1wtf	Hemoglobinopathies / iron metabolism|hereditary hemoglobinopathy|hemoglobinopathy|hemoglobinopathies											SCTID:427306008|MESH:D006453|ICD10:D57.0|ICD10:D58.8|MedDRA:10060892|GARD:0012455|ICD10:D56.8|ICD10:D57.1|ICD10:D57.3|ICD10:D56.0|DOID:2860|ICD10:D57.8|ICD10:D58.0|ICD10:D58.9|ICD10:D56.3|ICD10:D58.1|ICD10:D58.2|COHD:432868|ICD10:D57.2|Orphanet:68364|UMLS:C1960031|ICD10:D56.1|UMLS:C0019045|ICD10:D56.4|ICD10:D56.9|ICD9:282.7|NCIT:C3092|ICD10:D56.2																		owl:Class
MONDO:0002614	biolink:NamedThing	bone inflammation disease	Inflammation of the bone.	mondoexuq1wtf	bone inflammatory disease|inflammatory disorder of bone|osteitis											UMLS:C0029400|MESH:D010000|DOID:3342|SCTID:274144001																		owl:Class
MONDO:0014955	biolink:NamedThing	retinal dystrophy with or without extraocular anomalies		mondoexuq1wtf	retinal dystrophy with or without extraocular anomalies|RDEOA|retinal dystrophy with or without extraocular anomalies; RDEOA											OMIM:617175|UMLS:C4310680																		owl:Class
MONDO:0009979	biolink:NamedThing	reticular dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	mondoexuq1wtf	retinal dystrophy, reticular pigmentary, of POSTERIOR POLE											Orphanet:99002|MESH:C564844|OMIM:267800|ICD10:H35.5																		owl:Class
MONDO:0007729	biolink:NamedThing	developmental dysplasia of the hip 1		mondoexuq1wtf	hip dysplasia, developmental|developmental dysplasia of the hip 1|hip dysplasia, congenital|acetabular dysplasia|DDH1											OMIM:142700																		owl:Class
MONDO:0020296	biolink:NamedThing	congenital arteriovenous fistula	An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.	mondoexuq1wtf												NCIT:C35377|Orphanet:98731|SCTID:234148007|MedDRA:10003226|MESH:D001164																		owl:Class
MONDO:0016964	biolink:NamedThing	partial duplication of the long arm of chromosome 14		mondoexuq1wtf	partial duplication of the long arm of chromosome type 14|chromosome 14q duplication|trisomy 14q|partial duplication of chromosome 14q|14q duplication|partial trisomy 14q|Duplication 14q|partial trisomy of the long arm of chromosome 14|14q trisomy|partial trisomy of chromosome 14q											GARD:0005311|Orphanet:262941																		owl:Class
MONDO:0019787	biolink:NamedThing	autoimmune enteropathy	Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.	mondoexuq1wtf	severe immune-mediated enteropathy|immune-mediated protracted diarrhea of infancy											NCIT:C94694|MESH:C538273|GARD:0008689|Orphanet:94075|SCTID:235728001|ICD9:279.49|UMLS:C0341305																		owl:Class
MONDO:0014720	biolink:NamedThing	autosomal dominant optic atrophy plus syndrome	Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.	mondoexuq1wtf	optic atrophy-deafness-polyneuropathy-myopathy syndrome|dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|Treft-Sanborn-Carey syndrome|DOA+|optic atrophy type 8|optic atrophy - deafness- polyneuropathy - myopathy											DOID:0111340|UMLS:C1852267|GARD:0005243|SCTID:715374003|UMLS:C4275164|ICD10:H47.2|Orphanet:1215																		owl:Class
MONDO:0032832	biolink:NamedThing	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies		mondoexuq1wtf	IDNADFS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES|Chromosome 12Q15 Deletion Syndrome											OMIM:618608																		owl:Class
MONDO:0011533	biolink:NamedThing	temtamy preaxial brachydactyly syndrome	An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.	mondoexuq1wtf	TPBS|temtamy preaxial brachydactyly syndrome|preaxial brachydactyly syndrome, TEMTAMY type|TEMTAMY preaxial brachydactyly syndrome|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|preaxial brachydactyly syndrome, Temtamy type											OMIM:605282|MESH:C536958|DOID:0050814|UMLS:C1854466|ICD10:Q87.2|Orphanet:363417|GARD:0009679														https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome				owl:Class
MONDO:0009134	biolink:NamedThing	congenital dyserythropoietic anemia type 2	Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.	mondoexuq1wtf	hereditary erythroblastic multinuclearity with Positive acidified-serum test|dyserythropoietic Anemia, hempas type|anemia, congenital dyserythropoietic, type 2|SEC23B-CDG|CDA type II|hempas anemia|Cda 2|anemia, dyserythropoietic, congenital type 2|anemia, congenital dyserythropoietic, type II|congenital dyserythropoietic anemia type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|CDA type 2|CDAN2|dyserythropoietic Anemia, congenital, type 2|CDA II											GARD:0002001|DOID:0111401|ICD10:D64.4|Orphanet:98873|ICD9:285.8|OMIM:224100|SCTID:68870007																		owl:Class
MONDO:0013887	biolink:NamedThing	heterotaxy, visceral, 6, autosomal		mondoexuq1wtf	HTX6|heterotaxy, visceral, 6, autosomal											UMLS:C3553676|OMIM:614779																		owl:Class
MONDO:0013669	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 4	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.	mondoexuq1wtf	BROVCA4|RAD51D hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, type 4|susceptibility to familial breast-ovarian cancer 4|breast-ovarian cancer, familial, susceptibility to, 4|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D											OMIM:614291																		owl:Class
MONDO:0013982	biolink:NamedThing	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		mondoexuq1wtf	ECTD11A|ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant											OMIM:614940|DOID:0111653|UMLS:C3541517																		owl:Class
MONDO:0015884	biolink:NamedThing	autosomal dominant hypohidrotic ectodermal dysplasia	Autosomal dominant form of hypohidrotic ectodermal dysplasia.	mondoexuq1wtf	hypohidrotic ectodermal dysplasia, autosomal dominant|AD-HED|autosomal dominant anhidrotic ectodermal dysplasia											Orphanet:1810|ICD10:Q82.4																		owl:Class
MONDO:0014130	biolink:NamedThing	Dowling-Degos disease 2	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.	mondoexuq1wtf	POFUT1 Dowling-Degos disease|DDD2|Dowling-Degos disease caused by mutation in POFUT1|Dowling-Degos disease type 2|Dowling-Degos disease 2											UMLS:C3809147|OMIM:615327																		owl:Class
MONDO:0008371	biolink:NamedThing	Dowling-Degos disease	A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.	mondoexuq1wtf	dark dot disease|Dowling-Degos disease type 1|reticular pigment anomaly of flexures|Dowling-Degos Kitamura disease|DDD1|Dowling-Degos disease 1											DOID:0060256|MESH:C562924|MedDRA:10068651|Orphanet:79145|GARD:0009775|ICD10:L81.8																		owl:Class
MONDO:0018394	biolink:NamedThing	male infertility with teratozoospermia due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	mondoexuq1wtf												UMLS:CN252642|SCTID:764096006|ICD10:N46|GARD:0012514|Orphanet:399808																		owl:Class
MONDO:0002727	biolink:NamedThing	olfactory nerve disease	A disease involving the olfactory nerve.	mondoexuq1wtf	disorder of olfactory nerve|olfactory nerve disease|disease of olfactory nerve|disorder of olfactory [1st] nerve|disorder of the 1st nerve|disease or disorder of olfactory nerve|disorder of 1st nerve|olfactory nerve disease or disorder|olfactory nerve disorder											ICD10:G52.0|MESH:D020431|NCIT:C27210|COHD:435253|ICD9:352.0|SCTID:68982002|DOID:367|UMLS:C0751937																		owl:Class
MONDO:0004064	biolink:NamedThing	iris melanoma	A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.	mondoexuq1wtf	melanoma of the iris|iris malignant melanoma|malignant melanoma of the iris|melanoma (disease) of iris|malignant iris melanoma|iris melanoma|iris melanoma (disease)|melanoma of iris|malignant melanoma of iris										MONDO:0021433	UMLS:CN204945|NCIT:C9088|DOID:6994|SCTID:255012009																		owl:Class
MONDO:0003808	biolink:NamedThing	mediastinal extraskeletal osteosarcoma	An osteosarcoma arising from the mediastinum.	mondoexuq1wtf	mediastinal osteogenic sarcoma|osteosarcoma of the mediastinum|osteogenic sarcoma of mediastinum|osteogenic sarcoma of the mediastinum|osteosarcoma of mediastinum|mediastinum osteosarcoma (disease)|mediastinal osteosarcoma|mediastinal extraskeletal osteosarcoma											NCIT:C6615|DOID:6208|UMLS:C1334675																		owl:Class
MONDO:0002621	biolink:NamedThing	extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue.	mondoexuq1wtf	extraskeletal osteogenic sarcoma|osteosarcoma, extraskeletal, malignant|soft tissue osteosarcoma|extraosseous osteosarcoma|extraskeletal osteosarcoma											DOID:3357|UMLS:C0855052|SCTID:404077005|ICD9:170.9|NCIT:C8810																		owl:Class
MONDO:0054765	biolink:NamedThing	amyloidosis, primary localized cutaneous, 3		mondoexuq1wtf	amyloidosis cutis dyschromica|amyloidosis, PRIMARY LOCALIZED cutaneous, 3|PLCA3											OMIM:617920																		owl:Class
MONDO:0010497	biolink:NamedThing	intellectual disability, X-linked 102	An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.	mondoexuq1wtf	mental retardation, X-linked 102|DDX3X non-syndromic X-linked intellectual disability|mental retardation, X-linked type 102|DDX3X-related intellectual disability|intellectual disability, X-linked 102|intellectual disability, X-linked type 102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|MRX102											OMIM:300958|NCIT:C129931|UMLS:C4085582|GARD:0012715																		owl:Class
MONDO:0007623	biolink:NamedThing	flushing of ears and somnolence		mondoexuq1wtf	flushing of ears and somnolence											UMLS:C1851055|OMIM:136200																		owl:Class
MONDO:0006674	biolink:NamedThing	benign fibrous mesothelioma	A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure.	mondoexuq1wtf	fibrous mesothelioma, benign|solitary fibrous tumor, pleural|fibrous mesothelioma, benign (morphologic abnormality)|localized benign fibrous mesothelioma					Editor note: consider merging into MONDO:0021041						DOID:2653|UMLS:C0334511|MESH:D054363																		owl:Class
MONDO:0012539	biolink:NamedThing	Joubert syndrome 6	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	mondoexuq1wtf	Joubert syndrome type 6|TMEM67 Joubert syndrome|JBTS6|Joubert syndrome 6|Joubert syndrome caused by mutation in TMEM67											UMLS:C1853153|OMIM:610688|MESH:C537689|DOID:0111001																		owl:Class
MONDO:0004889	biolink:NamedThing	total central choroidal atrophy		mondoexuq1wtf	total central dystrophy of choroid|central gyrate choroidal dystrophy|choroidal dystrophy, serpiginous|total central choroidal atrophy|helicoid choroid dystrophy|total central choroid atrophy											UMLS:C0154898|ICD9:363.54|SCTID:392049002|DOID:9820																		owl:Class
MONDO:0005246	biolink:NamedThing	osteomyelitis	An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.	mondoexuq1wtf	osteomyelitis (disease)|osteomyelitis		osteomyelitis (disease)									ICD9:730.92|HP:0002754|UMLS:C0029443|ICD9:730.10|SCTID:60168000|COHD:141663|GARD:0007286|ICD9:730.11|ICD9:730.94|ICD9:730.93|ICD9:730.01|MESH:D010019|ICD9:730.97|ICD9:730.96|EFO:0003102|ICD9:730.28|DOID:1019|ICD9:730.1|ICD9:730.20|NCIT:C27577|ICD9:730.0																		owl:Class
MONDO:0003225	biolink:NamedThing	bone marrow disease	Any disease of the bone marrow.	mondoexuq1wtf	bone marrow disease|disease of bone marrow|disease or disorder of bone marrow|bone marrow disorder|disorder of bone marrow|bone marrow disease or disorder											NCIT:C34433|MESH:D001855|ICD9:289.9|UMLS:C0005956|SCTID:127035006|DOID:4961																		owl:Class
MONDO:0021463	biolink:NamedThing	benign neoplasm of parathyroid gland	A benign neoplasm that involves the parathyroid gland.	mondoexuq1wtf	benign tumor of the parathyroid gland|benign tumor of parathyroid gland|benign tumor of parathyroid|benign parathyroid tumor|benign neoplasm of the parathyroid gland|benign neoplasm of parathyroid|benign parathyroid neoplasm|benign neoplasm of the parathyroid|parathyroid gland benign neoplasm|parathyroid tumor benign|benign parathyroid gland tumor|benign tumor of the parathyroid|benign parathyroid gland neoplasm											NCIT:C3630|ICD10:D35.1|ICD9:227.1|SCTID:92272009|UMLS:C0154041|DOID:60008																		owl:Class
MONDO:0011564	biolink:NamedThing	cone-rod dystrophy 8	A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.	mondoexuq1wtf	cone-rod dystrophy type 8|cone-rod dystrophy 8|CORD8											DOID:0111014|UMLS:C1854180|OMIM:605549|MESH:C565322																		owl:Class
MONDO:0021759	biolink:NamedThing	acquired fructose intolerance	Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.	mondoexuq1wtf	intestinal fructose intolerance|dietary fructose intolerance|acquired fructose intolerance|fructose malabsorption											GARD:0002399|SCTID:413427002														https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance				owl:Class
MONDO:0017689	biolink:NamedThing	disorder of fructose metabolism		mondoexuq1wtf												Orphanet:308463|ICD10:E74.1|UMLS:C0342744|SCTID:39452003																		owl:Class
MONDO:0008070	biolink:NamedThing	nemaline myopathy 3	An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.	mondoexuq1wtf	ACTA1 nemaline myopathy|nemaline myopathy 3, with intranuclear rods|nemaline myopathy type 3|nemaline myopathy caused by mutation in ACTA1|myopathy, actin, congenital, with cores|nemaline myopathy 3, autosomal dominant or recessive|NEM3|nemaline myopathy 3|myopathy, actin, congenital, with Excess of thin myofilaments											UMLS:CN187050|NCIT:C129870|DOID:0110927|OMIM:161800|SCTID:702349003|MESH:C580202																		owl:Class
MONDO:0017786	biolink:NamedThing	2q23.1 microduplication syndrome	2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	mondoexuq1wtf	dup(2)(q23.1)|trisomy 2q23.1											UMLS:CN203736|ICD10:Q92.3|SCTID:766816008|Orphanet:313947																		owl:Class
MONDO:0016953	biolink:NamedThing	partial duplication of the long arm of chromosome 2	Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial trisomy 2q|Duplication 2q|2q trisomy|partial duplication of chromosome 2q|trisomy 2q|partial trisomy of chromosome 2q|2q duplication|chromosome 2q duplication|partial trisomy of the long arm of chromosome 2|partial duplication of the long arm of chromosome type 2											UMLS:C0795805|MESH:C535367|GARD:0005340|Orphanet:262842																		owl:Class
MONDO:0018673	biolink:NamedThing	IgG4-related pachymeningitis	Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.	mondoexuq1wtf	idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic cranial pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic pachymeningitis											Orphanet:449427|UMLS:C4545992|SCTID:762282007|ICD10:G03.9|GARD:0013256																		owl:Class
MONDO:0007619	biolink:NamedThing	isolated congenital adermatoglyphia	Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.	mondoexuq1wtf	ADERM|isolated congenital adermatoglyphia|congenital absence of fingerprints|absence of fingerprints|adermatoglyphia|fingerprints, absence of|ADG|immigration delay disease											Orphanet:289465|GARD:0012550|SCTID:763748007|MESH:C565010|ICD10:Q82.8|OMIM:136000|DOID:0111357																		owl:Class
MONDO:0013079	biolink:NamedThing	primary biliary cholangitis 2		mondoexuq1wtf	biliary cirrhosis, primary, 2|PBC2											OMIM:613007|MESH:C567817|UMLS:C2751696																		owl:Class
MONDO:0009133	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium	A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.	mondoexuq1wtf	cerebellar disorder, nonprogressive, with mental retardation|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dialysis dysequilibrium syndrome|dysequilibrium syndrome|VLDLRCH|cerebellar hypoplasia, VLDLR associated|cerebellar ataxia, mental retardation, and dysequilibrium|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|CAMRQ syndrome|CAMRQ|DES											DOID:0050997|GARD:0001998|MESH:C535731|Orphanet:1766|NCIT:C114781|SCTID:230782004|OMIMPS:224050|ICD10:G11.8|MedDRA:10013140														https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome				owl:Class
MONDO:0011668	biolink:NamedThing	maturity-onset diabetes of the young type 6	Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.	mondoexuq1wtf	NEUROD1 maturity-onset diabetes of the young (disease)|MODY type 6|type 6 maturity-onset diabetes of the young|MODY, type 6|maturity-onset diabetes of the young, type 6|MODY6|neurogenic differentiation Factor 1-associated monogenic diabetes|NEUROD1-associated monogenic diabetes|maturity onset diabetes of the Young, type 6|diabetes mellitus MODY type 6|MODY NEUROD1 related|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1											OMIM:606394|MESH:C565231|UMLS:C1853371|DOID:0111104|NCIT:C129745|SCTID:609573005|GARD:0010660														https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6				owl:Class
MONDO:0016874	biolink:NamedThing	partial deletion of chromosome 9		mondoexuq1wtf	partial monosomy of chromosome 9|partial deletion of chromosome type 9											Orphanet:261806|ICD10:Q93.5																		owl:Class
MONDO:0004448	biolink:NamedThing	frontal sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	mondoexuq1wtf	inverted papilloma of frontal sinus|frontal sinus inverted papilloma|inverted papilloma of the frontal sinus											DOID:8060|UMLS:C1333644|NCIT:C6842																		owl:Class
MONDO:0002537	biolink:NamedThing	inverted papilloma	An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.	mondoexuq1wtf	inverted papilloma|inverted papilloma, squamous cell											ICD9:212.0|NCIT:C3793|MESH:D018308|UMLS:C0206721|SCTID:104081000119103|DOID:3179																		owl:Class
MONDO:0005319	biolink:NamedThing	humerus fracture	A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.	mondoexuq1wtf	fracture, humeral|fractures, humeral|humeral fracture											EFO:0003943|COHD:442619|MESH:D006810|SCTID:66308002																		owl:Class
MONDO:0012423	biolink:NamedThing	MORM syndrome	MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.	mondoexuq1wtf	MORMS|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome|intellectual disability, truncal obesity, retinal dystrophy and micropenis|mental retardation, truncal obesity, retinal dystrophy and micropenis											UMLS:C1857802|GARD:0010121|Orphanet:75858|SCTID:715628009|MESH:C536984|OMIM:610156														https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome				owl:Class
MONDO:0005235	biolink:NamedThing	smoldering plasma cell myeloma	A plasma cell myeloma lacking clinical manifestations and organ impairment.	mondoexuq1wtf	smoldering Multiple myeloma/plasma cell myeloma|smoldering multiple myeloma|smoldering myeloma|smoldering plasma cell myeloma|asymptomatic myeloma|asymptomatic plasma cell myeloma											SCTID:440422002|NCIT:C7149|DOID:9551|EFO:0003073																		owl:Class
MONDO:0002000	biolink:NamedThing	anaerobic meningitis		mondoexuq1wtf	meningitis caused by anaerobic bacteria|meningitis due to anaerobic bacteria											DOID:14559|SCTID:445059005|UMLS:C0854214|ICD9:320.81																		owl:Class
MONDO:0060642	biolink:NamedThing	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		mondoexuq1wtf	NEDMAGA|neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features											OMIM:617865|UMLS:CN800196																		owl:Class
MONDO:0006232	biolink:NamedThing	giant cell tumor of soft tissue	A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.	mondoexuq1wtf	Osteoclastoma of soft tissue|GCT-ST|giant cell tumor of soft tissue											UMLS:C0334553|EFO:1000281|NCIT:C49107|ICDO:9251/1																		owl:Class
MONDO:0005089	biolink:NamedThing	sarcoma	A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.	mondoexuq1wtf	sarcoma of the soft tissue and bone|tumor of soft tissue and skeleton|sarcoma|mesenchymal tumor, malignant|sarcoma of soft tissue and bone|sarcoma, malignant											EFO:0000691|DOID:1115|MESH:D012509|ICD9:171.9|SCTID:424413001|ICD9:171.3|ICD9:171.4|ICD9:171.7|ICD10:C49|ICD9:171.2|ICD9:171.8|ICD9:171.0|ICD9:171.5|NCIT:C9118|GARD:0012018|ICD9:171.6|ICDO:8800/3|ICD9:171																		owl:Class
MONDO:0010548	biolink:NamedThing	spinocerebellar ataxia, X-linked 2		mondoexuq1wtf	Scax2|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia X-linked type 2|spinocerebellar ataxia, X-linked type 2|cerebellar ataxia with extrapyramidal involvement, early-onset|cerebellar ataxia with extrapyramidal involvement early-onset											GARD:0009978|MESH:C537314|UMLS:C1844885|OMIM:302600																		owl:Class
MONDO:0007139	biolink:NamedThing	Antipyrine metabolism		mondoexuq1wtf	antipyrine metabolism											OMIM:107290|UMLS:C1862824																		owl:Class
MONDO:0024876	biolink:NamedThing	tendon sheath disorder	A disease that involves the tendon sheath.	mondoexuq1wtf	disease or disorder of tendon sheath|disorder of tendon sheath|tendon sheath disease|tendon sheath disease or disorder|disease of tendon sheath|tendon sheath disorder											SCTID:312381009|UMLS:C0729734|ICD9:727.9																		owl:Class
MONDO:0002898	biolink:NamedThing	skin cancer	A malignant neoplasm involving the zone of skin	mondoexuq1wtf	malignant neoplasm of the skin|malignant skin neoplasm|skin cancer, Including melanoma|cancer of zone of skin|malignant tumor of skin|zone of skin cancer|skin cancer|malignant zone of skin neoplasm|malignant skin tumor|CA - skin cancer|malignant tumor of the skin|malignant neoplasm of zone of skin|skin neoplasm, malignant|malignant neoplasm of skin|melanoma and non-melanoma skin cancer|cancer of skin											COHD:4155297|DOID:4159|SCTID:372130007|ICD9:173.8|GARD:0010421|NCIT:C2920|UMLS:C0007114|ICD10:C43.C44|ICD9:173.9																		owl:Class
MONDO:0020800	biolink:NamedThing	demyelinating disease of central nervous system	Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.	mondoexuq1wtf	Demyelinating disorders of the central nervous system|Demyelinating Disorder of Central Nervous System|demyelinating disease of central nervous system|Demyelinating Disease of Central Nervous System|demyelinating cns disease|Demyelinating CNS disease|demyelinating disease central nervous system (cns)|Demyelinating disease central nervous system (CNS)|demyelinating disorders of the central nervous system|demyelinating disorder of central nervous system|Demyelinating disease of central nervous system					Editor note: see: https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44						GARD:0012052|ICD9:341.9|NCIT:C34526|ICD9:341.8|UMLS:C0011302|SCTID:6118003																		owl:Class
MONDO:0007755	biolink:NamedThing	hyperimmunoglobulin G1(A1) syndrome		mondoexuq1wtf	hyperimmunoglobulin G1(A1) syndrome|Immunoglobulin heavy chain regulator											MESH:C564173|UMLS:C1840429|OMIM:144120																		owl:Class
MONDO:0025149	biolink:NamedThing	encephalopathy, bovine spongiform	A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)	mondoexuq1wtf	spongiform encephalopathy, bovine|Mad cow diseases|encephalitis, bovine spongiform|BSE (bovine spongiform encephalopathy)|bovine spongiform encephalitis|bovine spongiform encephalopathy|BSEs (bovine spongiform encephalopathy)|Mad cow disease											MESH:D016643																		owl:Class
MONDO:0001150	biolink:NamedThing	hydrocephalus	A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.	mondoexuq1wtf	hydrocephalus, X-linked|hydrocephalus, nonsyndromic, autosomal recessive											DOID:10908|COHD:4043738|NCIT:C3111|ICD10:G91|SCTID:230745008|ICD10:G91.9|MESH:D006849																		owl:Class
MONDO:0013847	biolink:NamedThing	chromosome 16p11.2 duplication syndrome	Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	mondoexuq1wtf	chromosome 16p11.2 duplication syndrome|proximal trisomy 16p11.2|proximal 16p11.2 microduplication syndrome|autism, susceptibility to, 14B|16p11.2 duplication syndrome|16p11.2 microduplication|susceptibility to autism, 14B|proximal dup(16)(p11.2)|16p11.2 duplication|AUTS14B											Orphanet:370079|SCTID:765142003|UMLS:C3553407|ICD10:Q92.3|OMIM:614671|GARD:0012388|DOID:0060430																		owl:Class
MONDO:0012328	biolink:NamedThing	trichilemmal cyst		mondoexuq1wtf	trichilemmal cyst 1|Pilar cyst|TRICY1|Tricholemmal cyst											UMLS:C1864801|UMLS:C2266788|COHD:4115282|OMIM:609649|SCTID:254677004																		owl:Class
MONDO:0005858	biolink:NamedThing	mucinous cystadenocarcinoma	An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	mondoexuq1wtf	mucinous cystadenocarcinoma (morphologic abnormality)|Pseudomucinous adenocarcinoma|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma|mucinous cystadenocarcinoma NOS (morphologic abnormality)											MESH:D018282|EFO:0007378|NCIT:C3776|DOID:3603|UMLS:C0206699|ICDO:8470/3																		owl:Class
MONDO:0009529	biolink:NamedThing	pyruvate dehydrogenase E3 deficiency	Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.	mondoexuq1wtf	dihydrolipoamide dehydrogenase deficiency|E3 deficiency|maple syrup urine disease, type III|DLDD|E3-deficient maple syrup urine disease|Dld deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|DLD deficiency|maple syrup urine disease, type 3											GARD:0003263|Orphanet:2394|UMLS:C0268193|OMIM:246900|SCTID:29914000|ICD10:E74.4|UMLS:CN043137																		owl:Class
MONDO:0018424	biolink:NamedThing	inherited lipoic acid biosynthesis defect	An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.	mondoexuq1wtf	lipoic acid biosynthesis defect|inborn error of lipoate biosynthetic process|lipoic acid biosynthesis defects|rare inborn error of lipoate biosynthetic process|lipoate biosynthesis defect|inborn lipoate biosynthetic process disorder											Orphanet:401854|ICD10:E88.8|GARD:0012679																		owl:Class
MONDO:0000455	biolink:NamedThing	cone dystrophy	An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.	mondoexuq1wtf	cone dystrophy|retinal cone dystrophy|progressive cone dystrophy|stationary cone dystrophy											GARD:0011897|DOID:0050795|ICD9:362.75|Orphanet:1871|ICD10:H35.5|SCTID:312917007|UMLS:C0730290																		owl:Class
MONDO:0017599	biolink:NamedThing	splenic diffuse red pulp small B-cell lymphoma	Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.	mondoexuq1wtf	splenic diffuse red pulp lymphoma|SDRPL											ONCOTREE:SDRPL|SCTID:763884007|UMLS:C2699508|NCIT:C80309|Orphanet:300869|ICD10:C83.0|ICDO:9591/3																		owl:Class
MONDO:0017604	biolink:NamedThing	marginal zone lymphoma	A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.	mondoexuq1wtf	marginal zone B-cell lymphoma|MZBCL|lymphoma of marginal zone B cell|marginal zone B cell lymphoma|MZL|marginal zone lymphoma											NCIT:C4341|EFO:1000630|DOID:0050748|GARD:0013237|ONCOTREE:MZL|SCTID:447100004|ICDO:9699/3|UMLS:C1367654|Orphanet:300912																		owl:Class
MONDO:0007085	biolink:NamedThing	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	mondoexuq1wtf	alopecia, epilepsy, pyorrhea, mental subnormality|Shokeir syndrome|alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea											SCTID:720980004|ICD10:Q87.8|GARD:0000607|MESH:C537057|Orphanet:1008|UMLS:C1863090|OMIM:104130																		owl:Class
MONDO:0015426	biolink:NamedThing	Desbuquois dysplasia	Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.	mondoexuq1wtf	micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|DBQD|Desbuquois dysplasia|desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification											Orphanet:1425|UMLS:CN239270|DOID:0060462|NCIT:C124056|SCTID:254099008|ICD9:756.9|UMLS:C0432242|OMIMPS:251450|ICD10:Q78.8|GARD:0001818																		owl:Class
MONDO:0100233	biolink:NamedThing	long COVID-19	A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.	mondoexuq1wtf	sequelae of COVID-19|long-haul COVID-19|long haul COVID-19|post-acute sequelae of SARS-CoV-2 infection|post-acute sequelae of COVID-19|PASC							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0100320	biolink:NamedThing	post-COVID-19 disorder	A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0100283	biolink:NamedThing	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0015330	biolink:NamedThing	overgrowth/obesity syndrome		mondoexuq1wtf												Orphanet:139024|UMLS:CN199360																		owl:Class
MONDO:0012380	biolink:NamedThing	autosomal dominant nonsyndromic deafness 53	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.	mondoexuq1wtf	autosomal dominant deafness 53|DFNA53|deafness, autosomal dominant nonsyndromic sensorineural 53|deafness, autosomal dominant 53|autosomal dominant nonsyndromic deafness type 53											ICD10:H90.3|OMIM:609965|UMLS:C1864957|DOID:0110579|GARD:0009934|MESH:C566495																		owl:Class
MONDO:0007672	biolink:NamedThing	glomuvenous malformation	Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.	mondoexuq1wtf	hereditary multiple glomangiomas|multiple glomus tumors|GLOMUVENOUS malformations|glomus tumors, multiple|GVM|glomangiomas, multiple|VMGLOM|familial glomangioma|glomangiomatosis|Venous malformations with glomus cells|hereditary glomangioma											Orphanet:83454|ICD10:Q27.8|UMLS:C1841984|MedDRA:10018381|MESH:C536827|OMIM:138000|DOID:7996|NCIT:C5350|UMLS:C1333987|SCTID:715644000																		owl:Class
MONDO:0026768	biolink:NamedThing	warfarin sensitivity, X-linked		mondoexuq1wtf	Coumarin Sensitivity, X-Linked|WARFARIN SENSITIVITY, X-LINKED											OMIM:301052																		owl:Class
MONDO:0007958	biolink:NamedThing	familial medullary thyroid carcinoma	An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	Fmtc|MTC|hereditary thyroid medullary carcinoma|familial MTC|hereditary medullary thyroid gland carcinoma|Mtc1|thyroid carcinoma, familial medullary											ICD10:C73|MESH:C536911|OMIM:155240|UMLS:C1833921|Orphanet:99361|DOID:0050547																		owl:Class
MONDO:0014154	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate C	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.	mondoexuq1wtf	PLEKHG5 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|Charcot-Marie-Tooth disease recessive intermediate type C|RI-CMT type C|Charcot-Marie-Tooth disease, recessive intermediate C|autosomal recessive intermediate Charcot-Marie-Tooth disease type C|CMTRIC|RI-CMTC											OMIM:615376|ICD10:G60.0|DOID:0110198|Orphanet:369867|UMLS:C3809309																		owl:Class
MONDO:0056795	biolink:NamedThing	X-linked spermatogenic failure 1		mondoexuq1wtf	spermatogenic failure, X-linked, 1|SPGFX1|spermatogenic failure, X-linked, type 1|Del Castillo syndrome|Germinal cell aplasia|Sertoli cell-only syndrome											DOID:0070189|OMIM:305700																		owl:Class
MONDO:0002900	biolink:NamedThing	cerebral neuroblastoma	A neuroblastoma arising from the cerebral hemispheres.	mondoexuq1wtf	cerebral neuroblastoma|telencephalon neuroblastoma|cerebral neuroblastoma, PNET|neuroblastoma of telencephalon|neuroblastoma of the cerebral hemisphere|neuroblastoma of cerebrum|central nervous system neuroblastoma|neuroblastoma of the cerebrum|neuroblastoma of cerebral hemispheres|neuroblastoma of brain|neuroblastoma of the cerebral hemispheres|cerebral hemispheric neuroblastoma											NCIT:C4826|SCTID:281560004|DOID:4164|UMLS:C0559458																		owl:Class
MONDO:0004872	biolink:NamedThing	hemorrhoid	Dilated veins in the anal canal.	mondoexuq1wtf	Hemorrhoids|hemorrhoidal disease|hemorrhoid											SCTID:70153002|DOID:9746|MESH:D006484|NCIT:C26792|ICD9:455.8|UMLS:C0019112|ICD10:K64|ICD9:455																		owl:Class
MONDO:0004869	biolink:NamedThing	pelvic varices	A varicose disease that involves the pelvic region of trunk.	mondoexuq1wtf	varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease											SCTID:17406005|DOID:9742|COHD:197311|UMLS:C0155795|ICD9:456.5|ICD10:I86.2																		owl:Class
MONDO:0021450	biolink:NamedThing	benign neoplasm of heart	A benign neoplasm that involves the heart.	mondoexuq1wtf	benign Cardiac tumor|benign neoplasm of the heart|heart benign neoplasm|benign heart neoplasm|benign tumor of heart|benign tumor of the heart|benign heart tumor|benign Cardiac neoplasm											SCTID:92132009|ICD10:D15.1|NCIT:C3605|UMLS:C0153957|ICD9:212.7																		owl:Class
MONDO:0004702	biolink:NamedThing	uterine cervix leukoplakia	The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.	mondoexuq1wtf	leukoplakia of cervix (uteri)|leukoplakia of the cervix uteri|cervical leukoplakia|cervix leukoplakia|leukoplakia of the uterine cervix|leukoplakia of uterine cervix|leukoplakia of cervix|leukoplakia of cervix uteri|leukoplakia of the cervix|cervix uteri leukoplakia											SCTID:50923006|UMLS:C0269194|DOID:9043|NCIT:C3976|ICD9:622.2|ICD10:N88.0																		owl:Class
MONDO:0024314	biolink:NamedThing	parasitemia	The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)	mondoexuq1wtf	Parasitemias											MESH:D018512|UMLS:C0242723																		owl:Class
MONDO:0007138	biolink:NamedThing	anterior segment dysgenesis 1		mondoexuq1wtf	anterior segment ocular dysgenesis|ASMD|ASGD1|anterior segment mesenchymal dysgenesis|anterior segment dysgenesis 1											ICD10:Q13.8|UMLS:C1862839|OMIM:107250|DOID:0060605																		owl:Class
MONDO:0019503	biolink:NamedThing	anterior segment dysgenesis	A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).	mondoexuq1wtf	ASOD|ASMD|anterior segment ocular dysgenesis|ASGD|anterior segment mesenchymal dysgenesis|familial ocular anterior segment mesenchymal dysgenesis											ICD10:Q13.8|ICD9:743.49|DC:0000735|Orphanet:88632|OMIMPS:107250|SCTID:65075004|GARD:0010025																		owl:Class
MONDO:0043230	biolink:NamedThing	ciguatera fish poisoning	Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.	mondoexuq1wtf	ciguatera Poisonings|ciguatera|ciguatoxin causing toxic effect|ciguatera poisoning|poisoning, ciguatera|ciguatera fish Poisonings|toxic effect of ciguatera fish poisoning|Poisonings, ciguatera fish|poisoning, ciguatera fish|Poisonings, ciguatera|ciguatera fish poisoning											MESH:D036841|GARD:0006113|SCTID:241774007																		owl:Class
MONDO:0001301	biolink:NamedThing	rumination disorder	Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.	mondoexuq1wtf	rumination|psychogenic rumination|rumination syndrome											NCIT:C92567|DOID:11507|MESH:D019959|ICD9:307.53|SCTID:192014006|GARD:0007594														https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder				owl:Class
MONDO:0005451	biolink:NamedThing	eating disorder	A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.	mondoexuq1wtf	eating disorder|feeding and eating disorder											ICD10:F50.9|EFO:0005203|ICD9:307.59|DOID:8670|SCTID:72366004|ICD9:307.50|COHD:439002|NCIT:C89332|ICD10:F50																		owl:Class
MONDO:0001021	biolink:NamedThing	ametropic amblyopia		mondoexuq1wtf	refractive amblyopia											UMLS:C0152190|ICD10:H53.02|ICD9:368.03|SCTID:90927000|COHD:381017|DOID:10377																		owl:Class
MONDO:0001020	biolink:NamedThing	amblyopia	Decreased vision that results from abnormal visual development.	mondoexuq1wtf	lazy eye|amblyopia|amblyopia (disease)		amblyopia (disease)									DOID:10376|UMLS:C0002418|HP:0000646|COHD:376981|ICD9:368.00|CSP:1114-9655|ICD10:H53.00|SCTID:387742006|NCIT:C118764																		owl:Class
MONDO:0018613	biolink:NamedThing	AH amyloidosis		mondoexuq1wtf	heavy chain amyloidosis											ICD10:E85.9|Orphanet:442582																		owl:Class
MONDO:0014023	biolink:NamedThing	congenital muscular dystrophy with intellectual disability and severe epilepsy		mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type Iu|CDG-Iu|congenital disorder of glycosylation type 1u|congenital disorder of glycosylation type Iu|DPM2-CDG|CDG Iu|CDG syndrome type Iu|CMD with intellectual disability and severe epilepsy|CDG1U|congenital disorder of glycosylation, type Iu											DOID:0080571|Orphanet:329178|UMLS:C3554385|ICD10:E77.8|OMIM:615042|GARD:0012416																		owl:Class
MONDO:0023167	biolink:NamedThing	focal alopecia congenital megalencephaly		mondoexuq1wtf												GARD:0002349														https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly				owl:Class
MONDO:0013944	biolink:NamedThing	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation		mondoexuq1wtf	AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|APLAID											Orphanet:324530|OMIM:614878|UMLS:C3553961																		owl:Class
MONDO:0017956	biolink:NamedThing	mixed autoinflammatory and autoimmune syndrome		mondoexuq1wtf												UMLS:CN204102|Orphanet:324933																		owl:Class
MONDO:0009744	biolink:NamedThing	neuronal ceroid lipofuscinosis 1	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	mondoexuq1wtf	neuronal ceroid lipofuscinosis caused by mutation in PPT1|neuronal ceroid lipofuscinosis 1 variable age of onset|Santavuori-Haltia disease|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 1|neuronal ceroid lipofuscinosis type 1|CLN1 disease|CLN1 variable age at onset|ceroid lipofuscinosis, neuronal, type 1|infantile neuronal ceroid lipofuscinosis|juvenile CLN (type of CLN1)|classic late infantile CLN (type of CLN1)|CLN1|adult CLN (type of CLN1)|ceroid lipofuscinosis neuronal 1|infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis, infantile|Santavuori disease											GARD:0001219|ICD10:E75.4|DOID:0110721|NCIT:C85861|Orphanet:228329|OMIM:256730														https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1				owl:Class
MONDO:0002225	biolink:NamedThing	ovarian sarcoma	A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.	mondoexuq1wtf	sarcoma of the ovary|sarcoma of ovary|ovary sarcoma|ovarian sarcoma											NCIT:C8267|UMLS:C0280746|DOID:2146|SCTID:423627007																		owl:Class
MONDO:0003701	biolink:NamedThing	thyroid gland diffuse sclerosing papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.	mondoexuq1wtf	papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing neoplasm|nonencapsulated sclerosing tumor|nonencapsulated sclerosing carcinoma|nonencapsulated sclerosing papillary thyroid carcinoma|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing adenocarcinoma											ICDO:8350/3|UMLS:C1321862|NCIT:C7427|DOID:5914|UMLS:C0334330																		owl:Class
MONDO:0020145	biolink:NamedThing	developmental defect of the eye		mondoexuq1wtf												Orphanet:98553																		owl:Class
MONDO:0010415	biolink:NamedThing	myopathy, reducing body, X-linked, childhood-onset		mondoexuq1wtf	reducing body myopathy, X-linked 1B, with late childhood or adult onset|RBMX1B|myopathy, reducing body, X-linked, childhood-onset											OMIM:300718|MESH:C567468|UMLS:C2678015																		owl:Class
MONDO:0017418	biolink:NamedThing	chronic intestinal failure	Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).	mondoexuq1wtf	CIF											SCTID:716665002|UMLS:CN203168|UMLS:C4274352|Orphanet:294422																		owl:Class
MONDO:0015401	biolink:NamedThing	maxillary arteriovenous malformation	Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.	mondoexuq1wtf	arteriovenous malformation of maxilla											Orphanet:141171|SCTID:703335004|ICD10:Q27.3																		owl:Class
MONDO:0015500	biolink:NamedThing	facial arteriovenous malformation	Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.	mondoexuq1wtf												GARD:0012663|ICD10:Q27.3|Orphanet:156230														https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation				owl:Class
MONDO:0012858	biolink:NamedThing	primary CD59 deficiency		mondoexuq1wtf	hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy|HACD59|CD59 deficiency											Orphanet:169464|ICD10:D84.1|OMIM:612300|MESH:C567355|UMLS:C2676767																		owl:Class
MONDO:0006339	biolink:NamedThing	ovarian microcystic stromal tumor	A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.	mondoexuq1wtf												UMLS:C4054287|NCIT:C121953|EFO:1000424																		owl:Class
MONDO:0013601	biolink:NamedThing	gluthathione peroxidase deficiency		mondoexuq1wtf	glutathione peroxidase deficiency|GPXD|gluthathione peroxidase deficiency											OMIM:614164|UMLS:C0398747|SCTID:234590006																		owl:Class
MONDO:0015619	biolink:NamedThing	non-syndromic urogenital tract malformation	A urogenital tract malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated urogenital tract malformation|nonsyndromic urogenital tract malformation											Orphanet:165704																		owl:Class
MONDO:0019356	biolink:NamedThing	urogenital tract malformation		mondoexuq1wtf												Orphanet:83001																		owl:Class
MONDO:0024659	biolink:NamedThing	colorectal Kaposi sarcoma	A Kaposi sarcoma that arises from the colon or rectum.	mondoexuq1wtf	Kaposi's sarcoma (disease) of large intestine|large intestine Kaposi's sarcoma (disease)|colorectal Kaposi sarcoma|large intestinal Kaposi sarcoma											UMLS:C3272833|NCIT:C96510																		owl:Class
MONDO:0008920	biolink:NamedThing	carnitine deficiency, myopathic		mondoexuq1wtf	myopathic carnitine deficiency|carnitine deficiency, myopathic											GARD:0006616|MESH:C536100|OMIM:212160|UMLS:C1859318														https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency				owl:Class
MONDO:0031014	biolink:NamedThing	autoimmune gastritis	Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.	mondoexuq1wtf	autoimmune gastritis (disease)											NCIT:C95752|DOID:0040090																		owl:Class
MONDO:0004966	biolink:NamedThing	gastritis	Inflammation of the stomach.	mondoexuq1wtf	erosive gastropathy|stomach inflammation|acute gastric mucosal erosion|gastritis|erosive gastritis|inflammation of stomach|gastritis (disease)		gastritis (disease)									UMLS:C3854048|UMLS:C0017152|SCTID:4556007|DOID:4029|ICD9:535.40|NCIT:C26780|EFO:0000217|ICD9:535.0|ICD9:535.00|ICD9:535.4|HP:0005263|ICD9:535.01|UMLS:C0267112|UMLS:C2243088|COHD:201340|ICD10:K29.7|ICD9:535.41|UMLS:C2243090|MESH:D005756																		owl:Class
MONDO:0012714	biolink:NamedThing	early-onset myopathy with fatal cardiomyopathy		mondoexuq1wtf	EOMFC|Salih myopathy|myopathy, early-onset, with fatal cardiomyopathy|SALMY											SCTID:702343002|Orphanet:289377|UMLS:C2673677|MESH:C567129|ICD10:G71.8|OMIM:611705																		owl:Class
MONDO:0008052	biolink:NamedThing	myopathy with storage of glycoproteins and Glycosaminoglycans		mondoexuq1wtf	myopathy with storage of glycoproteins and Glycosaminoglycans											OMIM:160570|MESH:C563542|UMLS:C1834532																		owl:Class
MONDO:0012121	biolink:NamedThing	otosclerosis 5		mondoexuq1wtf	OTSC5|otosclerosis 5											OMIM:608787|MESH:C563858|UMLS:C1837422																		owl:Class
MONDO:0016600	biolink:NamedThing	acute neonatal citrullinemia type I	Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.	mondoexuq1wtf	classic citrullinemia type 1|acute neonatal citrullinemia type 1|classic citrullinemia type I											UMLS:CN201793|ICD10:E72.2|Orphanet:247546																		owl:Class
MONDO:0017135	biolink:NamedThing	olivopontocerebellar atrophy-deafness syndrome	Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.	mondoexuq1wtf	olivopontocerebellar atrophy deafness											UMLS:CN202542|GARD:0004070|Orphanet:2732																		owl:Class
MONDO:0024271	biolink:NamedThing	intestinal helminthiasis	A parasitic helminthiasis infectious disease that involves the intestine.	mondoexuq1wtf	intestine parasitic helminthiasis infectious disease											SCTID:26249004|MESH:C531698|UMLS:C0348287																		owl:Class
MONDO:0021960	biolink:NamedThing	ureteritis	An acute or chronic inflammatory process affecting the ureter.	mondoexuq1wtf	ureteritis|Ureteritis|Inflammation of ureter											SCTID:111405003|NCIT:C78666|UMLS:C0041959																		owl:Class
MONDO:0003027	biolink:NamedThing	thyroid gland angiosarcoma	A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.	mondoexuq1wtf	angiosarcoma of thyroid|hemangiosarcoma of thyroid gland|thyroid angiosarcoma|thyroid gland angiosarcoma|hemangiosarcoma of the thyroid|thyroid gland malignant hemangioendothelioma|hemangiosarcoma of thyroid|thyroid hemangiosarcoma|angiosarcoma (disease) of thyroid gland|thyroid gland angiosarcoma (disease)|hemangiosarcoma of the thyroid gland|thyroid gland hemangiosarcoma|angiosarcoma of the thyroid gland|angiosarcoma of the thyroid|angiosarcoma of thyroid gland											DOID:4514|UMLS:C1336748|NCIT:C6043																		owl:Class
MONDO:0005846	biolink:NamedThing	microsporidiosis	A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.	mondoexuq1wtf	Microsporidiasis|Microsporidia infectious disease|infection by Microsporea|infection by Microsporida|Microsporidia disease or disorder|Microsporidia caused disease or disorder|infection by Microspora|Microsporidia infection											MESH:D016881|EFO:0007366|Orphanet:2552|GARD:0003655|ICD9:117.9|ICD10:B60.8|SCTID:699676006|UMLS:C0085407|NCIT:C84891|MedDRA:10053982|DOID:4271														https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis				owl:Class
MONDO:0700067	biolink:NamedThing	myopathy caused by varation in FKTN	Any myopathy in which the cause of the disease is a varation in the FKTN gene.	mondoexuq1wtf	FKTN myopathy|myopathy caused by mutation in FKTN|FKTN-related myopathy							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0002740	biolink:NamedThing	uterine ligament mucinous adenocarcinoma	A rare mucinous adenocarcinoma that arises from the uterine ligament.	mondoexuq1wtf	uterine ligament mucinous adenocarcinoma											NCIT:C40137|UMLS:C1519869|DOID:3699																		owl:Class
MONDO:0002742	biolink:NamedThing	cervical mucinous adenocarcinoma	A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.	mondoexuq1wtf	uterine cervix mucinous adenocarcinoma|cervical mucinous adenocarcinoma											NCIT:C36095|UMLS:C1332919|DOID:3701																		owl:Class
MONDO:0001377	biolink:NamedThing	vitreous syneresis		mondoexuq1wtf	vitreous degeneration					Editor note: TODO consider cede to HPO						SCTID:60189009|DOID:11816|UMLS:C0155366|ICD9:379.21|COHD:320420|ICD10:H43.81																		owl:Class
MONDO:0006892	biolink:NamedThing	partial sensory epilepsy	A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).	mondoexuq1wtf												DOID:3330|EFO:1001090|MESH:D020937																		owl:Class
MONDO:0005384	biolink:NamedThing	partial epilepsy	A seizure caused by a localized disorder.	mondoexuq1wtf	localisation-related epilepsy|focal epilepsy|partial epilepsy											EFO:0004263|SCTID:230381009|NCIT:C122812|MESH:D004828|ICD9:345.50|UMLS:C0014547|DOID:2234																		owl:Class
MONDO:0014482	biolink:NamedThing	intellectual disability, autosomal dominant 29	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.	mondoexuq1wtf	SETBP1-related disorder|intellectual disability, autosomal dominant 29|mental retardation, autosomal dominant 29|autosomal dominant mental retardation 29|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|autosomal dominant non-syndromic intellectual disability 29|SETBP1-related intellectual disability|SETBP1 disorder|SETBP1 related developmental delay|MRD29|mental retardation, autosomal dominant type 29|intellectual disability, autosomal dominant type 29|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome|autosomal dominant intellectual disability 29											UMLS:C4015141|OMIM:616078|DOID:0070059|GARD:0013379																		owl:Class
MONDO:0018574	biolink:NamedThing	intellectual disability-expressive aphasia-facial dysmorphism syndrome		mondoexuq1wtf	intellectual disability-loss of expressive language-facial dysmorphism syndrome											UMLS:CN237587|ICD10:Q87.0|Orphanet:436151																		owl:Class
MONDO:0018632	biolink:NamedThing	11q22.2q22.3 microdeletion syndrome		mondoexuq1wtf	11q22.2-q22.3 deletion syndrome|Del(11)(q22.2q22.3)|monosomy 11q22.2-q22.3|monosomy 11q22.2q22.3											UMLS:CN237678|Orphanet:444002|ICD10:Q93.5																		owl:Class
MONDO:0017886	biolink:NamedThing	MIT family translocation renal cell carcinoma	MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.	mondoexuq1wtf	carcinoma associated with MITF/TFE translocation|translocation renal cell carcinoma											UMLS:C4518356|ICD10:C64|Orphanet:319308|SCTID:764694005																		owl:Class
MONDO:0016798	biolink:NamedThing	ataxia neuropathy spectrum		mondoexuq1wtf												UMLS:C3683791|Orphanet:254818																		owl:Class
MONDO:0016797	biolink:NamedThing	multiple mitochondrial DNA deletion syndrome		mondoexuq1wtf	multiple mtDNA deletion syndrome											UMLS:CN202053|Orphanet:254807																		owl:Class
MONDO:0015437	biolink:NamedThing	ring chromosome 21	Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	mondoexuq1wtf	chromosome 21 ring|chromosome 21 en anneau|Ring chromosome 21 syndrome|R21|Ring chromosome type 21|Ring 21											GARD:0006083|Orphanet:1445|MESH:C537109|ICD10:Q93.2|SCTID:31325007|UMLS:CN037252														https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21				owl:Class
MONDO:0015488	biolink:NamedThing	predominantly large-vessel vasculitis		mondoexuq1wtf												Orphanet:156140																		owl:Class
MONDO:0013557	biolink:NamedThing	Hermansky-Pudlak syndrome 5	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome 5|HPS5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 5|Hermansky-Pudlak syndrome caused by mutation in HPS5											UMLS:C3888004|OMIM:614074|DOID:0060543																		owl:Class
MONDO:0016502	biolink:NamedThing	Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.	mondoexuq1wtf	HPS without pulmonary fibrosis											Orphanet:231512|UMLS:CN201507|ICD10:E70.3																		owl:Class
MONDO:0021315	biolink:NamedThing	malignant tumor of nasopharynx	A cancer that involves the nasopharynx.	mondoexuq1wtf	malignant nasopharyngeal neoplasm|cancer of nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal tumor|malignant nasopharynx neoplasm|malignant tumor of the nasopharynx|malignant neoplasm of the nasopharynx|nasopharynx cancer											UMLS:C0238301|NCIT:C9321|ICD9:147.8|UMLS:C0153392|ICD9:147.9|SCTID:187692001																		owl:Class
MONDO:0005375	biolink:NamedThing	nasopharyngeal neoplasm	A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.	mondoexuq1wtf	nasopharyngeal neoplasms|tumor of the nasopharynx|nasopharyngeal tumor|nasopharynx neoplasm (disease)|neoplasm of the nasopharynx|nasopharynx tumor|neoplasm of nasopharynx|nasopharynx neoplasm|tumor of nasopharynx										MONDO:0021362	SCTID:126680004|MESH:D009303|UMLS:C0027439|EFO:0004252|NCIT:C3257																		owl:Class
MONDO:0007222	biolink:NamedThing	brachydactyly type D	A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.	mondoexuq1wtf	BDD|stub thumb|brachydactyly, type D					Editor note: OMIM xrefs Orphanet ID that does not appear to exist						MESH:C562420|DOID:0110971|OMIM:113200																		owl:Class
MONDO:0005507	biolink:NamedThing	gingival cancer	A primary or metastatic malignant neoplasm that affects the gums.	mondoexuq1wtf	malignant gum tumor|malignant neoplasm of gingiva|cancer of gingiva|malignant gingival neoplasm|gum cancer|malignant neoplasm of gum|malignant tumor of the gum|malignant gingival tumor|gingiva cancer|malignant neoplasm of the gingiva|malignant tumor of gum|malignant tumor of gingiva|malignant gingiva neoplasm|malignant neoplasm of the gum|malignant tumour of gingiva|malignant tumor of the gingiva|malignant gum neoplasm|malignant neoplasm of other sites of gum											DOID:8602|ICD10:C03.9|NCIT:C9317|MedDRA:10067807|EFO:0005557|UMLS:C0153364|ICD10:C03|ICD9:143.8|ICD9:143|SCTID:363382005|ICD9:143.9																		owl:Class
MONDO:0009813	biolink:NamedThing	chronic recurrent multifocal osteomyelitis	Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.	mondoexuq1wtf	multifocal osteomyelitis, chronic|CMO|CNO/CRMO|chronic multifocal osteomyelitis|NBO|chronic recurrent multifocal osteomyelitis (disease)|non-bacterial osteomyelitis|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|osteomyelitis, chronic multifocal|CRMO|chronic recurrent multifocal osteomyelitis		chronic recurrent multifocal osteomyelitis (disease)									Orphanet:324964|NCIT:C119042|DOID:0060645|UMLS:C0410422|MESH:C535456|ICD10:M86.3|HP:0002754|SCTID:240151005|OMIM:259680|GARD:0006108																		owl:Class
MONDO:0016341	biolink:NamedThing	lysosomal disease with restrictive cardiomyopathy		mondoexuq1wtf												Orphanet:217638|UMLS:CN201171																		owl:Class
MONDO:0015944	biolink:NamedThing	axial mesodermal dysplasia spectrum	Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.	mondoexuq1wtf	Russell Weaver Bull syndrome|blastogenesis defect|Russell-Weaver-Bull syndrome											ICD10:Q87.8|Orphanet:1834|GARD:0000213|UMLS:C2931613|MESH:C537790|SCTID:765755006														https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum				owl:Class
MONDO:0008346	biolink:NamedThing	pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	mondoexuq1wtf	idiopathic pulmonary hemosiderosis|alveolar hypoventilation syndrome|pulmonary siderosis|pulmonary hemosiderosis|siderosis|brown induration|brown lung											ICD9:516.1|MESH:D012806|ICD10:E83.1+|ICD10:J84.03|ICD10:J99.8*|DOID:10328|GARD:0007645|OMIM:178550|SCTID:40527005|Orphanet:99931|DOID:12118|GARD:0006763|COHD:438782|ICD10:J63.4														https://rarediseases.info.nih.gov/diseases/7645/siderosis				owl:Class
MONDO:0014504	biolink:NamedThing	Perrault syndrome 5	Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.	mondoexuq1wtf	TWNK Perrault syndrome|Perrault syndrome 5|Perrault syndrome type 5|Perrault syndrome caused by mutation in TWNK|PRLTS5											OMIM:616138|UMLS:C4015307																		owl:Class
MONDO:0017312	biolink:NamedThing	Perrault syndrome	Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.	mondoexuq1wtf	XX gonodal dysgenesis-deafness syndrome|gonadal dysgenesis, XX type, with deafness											ICD10:Q87.8|SCTID:93466004|DOID:0050857|UMLS:C0685838|UMLS:CN239459|Orphanet:2855|GARD:0002542|OMIMPS:233400																		owl:Class
MONDO:0020229	biolink:NamedThing	cerebral disease with cataract		mondoexuq1wtf												Orphanet:98645|UMLS:CN207057																		owl:Class
MONDO:0017742	biolink:NamedThing	disorder of O-xylosylglycan synthesis		mondoexuq1wtf												ICD10:E77.8|UMLS:CN227189|Orphanet:309450																		owl:Class
MONDO:0004622	biolink:NamedThing	chronic intestinal vascular insufficiency		mondoexuq1wtf	CMI - chronic mesenteric ischaemia|chronic mesenteric ischemia											DOID:8633|ICD9:557.1|UMLS:C0311262|SCTID:111354009																		owl:Class
MONDO:0010261	biolink:NamedThing	microphthalmia, syndromic 2		mondoexuq1wtf	MCOPS2|microphthalmia syndromic 2|oculofaciocardiodental syndrome|MAA2 (formerly)|OFCD syndrome|microphthalmia, syndromic type 2|syndromic microphthalmia type 2|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, syndromic 2|ANOP2 (formerly)|microphthalmia, cataracts, radiculomegaly, and septal heart defects|microphthalmia cataracts radiculomegaly and septal heart defects											GARD:0004628|ICD10:Q87.8|OMIM:300166|Orphanet:2712|ICD9:759.89|SCTID:699300009														https://github.com/monarch-initiative/mondo/issues/2999				owl:Class
MONDO:0014264	biolink:NamedThing	otosclerosis 10		mondoexuq1wtf	otosclerosis 10|OTSC10											OMIM:615589																		owl:Class
MONDO:0016474	biolink:NamedThing	drug-induced lupus erythematosus	An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.	mondoexuq1wtf	drug-induced lupus|DILE|DIL|drug induced lupus|drug induced lupus erythematosus											ICD10:M32.0|UMLS:C0263591|NCIT:C114354|SCTID:80258006|MedDRA:10013706|Orphanet:231111|DOID:0040093																		owl:Class
MONDO:0100396	biolink:NamedThing	acute myeloid leukemia, t(7;12)(q36;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)	mondoexuq1wtf	AML, t(7;12)(q36;p13)											NCIT:C122690																		owl:Class
MONDO:0056802	biolink:NamedThing	synovial bursa disease	A disease or disorder that involves the synovial bursa.	mondoexuq1wtf	disorder of synovial bursa|disease or disorder of synovial bursa|synovial bursa disease or disorder|disease of synovial bursa|disorder of bursa											UMLS:C0263946|SCTID:10597006																		owl:Class
MONDO:0018243	biolink:NamedThing	intellectual disability-hyperkinetic movement-truncal ataxia syndrome		mondoexuq1wtf												Orphanet:369847|UMLS:CN204803|ICD10:G71.0																		owl:Class
MONDO:0032787	biolink:NamedThing	holoprosencephaly 12 with or without pancreatic agenesis		mondoexuq1wtf	HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS|HPE12											OMIM:618500																		owl:Class
MONDO:0044203	biolink:NamedThing	foveal hypoplasia		mondoexuq1wtf	FVH											OMIMPS:136520																		owl:Class
MONDO:0024645	biolink:NamedThing	retroperitoneal neoplasm	A benign or malignant neoplasm that affects the retroperitoneum.	mondoexuq1wtf	tumor of retroperitoneal space|retroperitoneal space tumor|retroperitoneal neoplasm|retroperitoneal space neoplasm|neoplasm of retroperitoneal space											NCIT:C3357																		owl:Class
MONDO:0002273	biolink:NamedThing	plasma protein metabolism disease	An inherited metabolic disorder that involves plasma protein metabolism malfunction.	mondoexuq1wtf												DOID:2345|ICD9:273.8																		owl:Class
MONDO:0010109	biolink:NamedThing	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities		mondoexuq1wtf	Madokoro Ohdo Sonoda syndrome|tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality											OMIM:273390|GARD:0003348|MESH:C536496|GARD:0005146														https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities|https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome				owl:Class
MONDO:0010238	biolink:NamedThing	deafness, X-linked 4	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.	mondoexuq1wtf	deafness, X-linked 6, progressive|deafness, nonsyndromic sensorineural progressive 6|deafness, X-linked type 4|SMPX X-linked nonsyndromic deafness|deafness, X-linked 4|X-linked nonsyndromic deafness caused by mutation in SMPX|DFNX4											MESH:C564723|UMLS:C1848204|OMIM:300066|DOID:0111735																		owl:Class
MONDO:0019586	biolink:NamedThing	X-linked nonsyndromic deafness	X-linked form of nonsyndromic deafness.	mondoexuq1wtf	X-linked non-syndromic sensorineural hearing loss type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked isolated sensorineural deafness type DFN|nonsyndromic genetic deafness, X-linked|X-linked non-syndromic neurosensory deafness type DFN|X-linked isolated neurosensory deafness type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked nonsyndromic genetic deafness|nonsyndromic deafness, X-linked|X-linked deafness|X-linked non-syndromic sensorineural deafness type DFN|X-linked non-syndromic neurosensory hearing loss type DFN					ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408						DOID:0050566|UMLS:CN206422|Orphanet:90625|OMIMPS:304500|ICD10:H90.3																		owl:Class
MONDO:0015084	biolink:NamedThing	FRAXF syndrome	FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	mondoexuq1wtf												SCTID:716708005|UMLS:C4274329|Orphanet:100974|UMLS:CN197382																		owl:Class
MONDO:0010025	biolink:NamedThing	short stature-obesity syndrome		mondoexuq1wtf	short stature-obesity syndrome|SSOS											OMIM:269870|UMLS:C1849235|MESH:C564821																		owl:Class
MONDO:0023267	biolink:NamedThing	goldstein hutt syndrome		mondoexuq1wtf	long eyelashes, cataract, and hereditary spherocytosis|trichomegaly, cataract, and hereditary spherocytosis											MESH:C537282|UMLS:C2931465																		owl:Class
MONDO:0010979	biolink:NamedThing	Timothy syndrome	Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.	mondoexuq1wtf	LQT8|Timothy syndrome|TIMOTHY syndrome|TS|long QT syndrome 8|long QT syndrome with syndactyly|long QT syndrome-syndactyly syndrome|long QT syndrome type 8											ICD10:I45.8|Orphanet:65283|OMIM:601005|NCIT:C142894|DOID:0060173|UMLS:C1832916|ICD10:G72.3|GARD:0009294|MESH:C536962														https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome				owl:Class
MONDO:0013074	biolink:NamedThing	encephalocraniocutaneous lipomatosis	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.	mondoexuq1wtf	Haberland syndrome|ECCL|encephalocraniocutaneous lipomatosis|Fishman syndrome											NCIT:C4701|OMIM:613001|MESH:C535736|ICD9:757.8|UMLS:C0406612|GARD:0002108|ICD10:E88.2|SCTID:238905009|Orphanet:2396														https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis				owl:Class
MONDO:0006574	biolink:NamedThing	lipomatosis	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.	mondoexuq1wtf	lipomatosis|Madelung disease|Launois-Bensaude syndrome|Madelung's disease											ICD9:272.8|Wikipedia:Lipomatosis|DOID:3153|MESH:D008068|NCIT:C3193|SCTID:402693001|UMLS:C0023801|EFO:1000728|ICD10:E88.2																		owl:Class
MONDO:0004302	biolink:NamedThing	chief cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.	mondoexuq1wtf	chief cell adenoma of the parathyroid gland|chief cell adenoma of parathyroid|chief cell adenoma of parathyroid gland|chief cell adenoma of the parathyroid|chief cell adenoma|parathyroid gland chief cell adenoma|parathyroid chief cell adenoma											NCIT:C4154|ICDO:8321/0|DOID:7607|UMLS:C0334320																		owl:Class
MONDO:0013438	biolink:NamedThing	pontocerebellar hypoplasia type 2D	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.	mondoexuq1wtf	Cerebellocerebral atrophy, progressive|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS|pontocerebellar hypoplasia, type 2D|cerebello-cerebral atrophy, progressive|PCH2D|SEPSECS non-syndromic pontocerebellar hypoplasia											UMLS:C3151140|OMIM:613811|DOID:0060270|ICD10:Q04.3																		owl:Class
MONDO:0021029	biolink:NamedThing	genetic sebaceous gland anomaly	An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic sebaceous gland anomaly											Orphanet:183460																		owl:Class
MONDO:0008404	biolink:NamedThing	scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.	mondoexuq1wtf	scalp ear nipple syndrome|scalp-ear-nipple syndrome|scalp-EAR-nipple syndrome|Sen syndrome|Finlay-Marks syndrome|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|SENS											SCTID:721888002|DOID:0111550|GARD:0000159|Orphanet:2036|MESH:C536623|OMIM:181270|ICD10:Q87.8																		owl:Class
MONDO:0014725	biolink:NamedThing	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		mondoexuq1wtf	spastic tetraplegia, thin corpus callosum, and progressive microcephaly|SPATCCM|ASCT1 deficiency|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome											OMIM:616657|UMLS:C4225254|Orphanet:447997|ICD10:Q02																		owl:Class
MONDO:0002186	biolink:NamedThing	acute maxillary sinusitis	Acute form of maxillary sinusitis.	mondoexuq1wtf	acute antritis|maxillary sinusitis, acute											ICD10:J01.00|ICD10:J01.0|SCTID:68272006|UMLS:C0155804|ICD9:461.0|DOID:2050|COHD:141323																		owl:Class
MONDO:0005842	biolink:NamedThing	maxillary sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.	mondoexuq1wtf												SCTID:88348008|DOID:2051|MESH:D015523|UMLS:C0024959|NCIT:C34809|EFO:0007361|ICD10:J32.0																		owl:Class
MONDO:0011944	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 3		mondoexuq1wtf	SLEN3|systemic lupus erythematosus with nephritis, susceptibility to, 3											OMIM:607967																		owl:Class
MONDO:0011634	biolink:NamedThing	rippling muscle disease	A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch	mondoexuq1wtf												ICD9:359.29|MedDRA:10069417|SCTID:709281006|ICD10:G71.8														https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease				owl:Class
MONDO:0016110	biolink:NamedThing	non-dystrophic myopathy	A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.	mondoexuq1wtf	non-dystrophic myotonia|non dystrophic myotonia											NCIT:C122787|Orphanet:206656|UMLS:C1828221|SCTID:424795008																		owl:Class
MONDO:0100081	biolink:NamedThing	sleep disorder	A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.	mondoexuq1wtf	sleep disturbance|parasomnia|disturbances, sleep|sleep disturbances							http://orcid.org/0000-0001-5208-3432				NCIT:C3376																		owl:Class
MONDO:0018741	biolink:NamedThing	paracetamol poisoning		mondoexuq1wtf	acetaminophen poisoning											ICD9:965.4|Orphanet:464458|SCTID:70273001																		owl:Class
MONDO:0011222	biolink:NamedThing	glaucoma 1, open angle, D		mondoexuq1wtf	GLC1D|glaucoma 1, open angle, D|glaucoma, primary open angle, adult-onset											OMIM:602429|UMLS:C1865427|MESH:C566551																		owl:Class
MONDO:0020366	biolink:NamedThing	congenital glaucoma	Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.	mondoexuq1wtf	buphthalmia|Buphthalmus|primary congenital glaucoma|buphthalmos					Editor note: check placement of subclasses						NCIT:C50648|Orphanet:98976|GARD:0002485|SCTID:204113001|ICD10:Q15.0																		owl:Class
MONDO:0001045	biolink:NamedThing	intestinal atresia	A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.	mondoexuq1wtf	intestinal atresia|intestinal atresia (disease)|atresia of the intestine|congenital intestinal atresia		intestinal atresia (disease)									DOID:10486|UMLS:C0021828|ICD10:Q41.1|NCIT:C84790|HP:0011100																		owl:Class
MONDO:0000393	biolink:NamedThing	partial fetal alcohol syndrome	A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.	mondoexuq1wtf												UMLS:C3661483|DOID:0050666																		owl:Class
MONDO:0000408	biolink:NamedThing	fetal alcohol spectrum disorder	A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.	mondoexuq1wtf	FASDs|alcohol-related birth defects|FAE (fetal alcohol effects)|partial fetal alcohol syndrome|FAEs (fetal alcohol effects)|alcohol related birth defects|fetal alcohol spectrum disorders|alcohol related neurodevelopmental disorder|alcohol-related birth defects (ARBD) - type|alcohol-related neurodevelopmental disorder (ARND) - type|fetal alcohol syndrome|syndrome, fetal alcohol|FASD|fetal alcohol syndrome (FAS) - type|growth retardation, facial abnormalities, and central nervous system dysfunction|birth defects, alcohol-related											UMLS:CN200663|UMLS:CN036067|NCIT:C92780|UMLS:C2985290|SCTID:609437000|DOID:0050696|MESH:D063647|GARD:0000599																		owl:Class
MONDO:0012669	biolink:NamedThing	Legius syndrome	Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.	mondoexuq1wtf	neurofibromatosis 1-like syndrome|neurofibromatosis type 1 like syndrome|Legius syndrome|neurofibromatosis type 1-like syndrome|NF1-like syndrome											ICD10:Q85.0|ICD9:709.09|Orphanet:137605|MESH:C548032|OMIM:611431|GARD:0010714|SCTID:703541007|UMLS:C1969623														https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome				owl:Class
MONDO:0019739	biolink:NamedThing	atypical hemolytic-uremic syndrome with anti-factor H antibodies		mondoexuq1wtf	aHUS with anti-factor H antibodies|hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|atypical HUS with anti-factor H antibodies|D-HUS with anti-factor H antibodies											ICD10:D58.8|Orphanet:93581|UMLS:CN206652																		owl:Class
MONDO:0009335	biolink:NamedThing	hemolytic uremic syndrome, atypical, susceptibility to, 1		mondoexuq1wtf	susceptibility to atypical hemolytic uremic syndrome 1|hemolytic uremic syndrome, atypical, susceptibility to, 1|AHUS1|Ahus, susceptibility to, 1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|hemolytic uremic syndrome, typical											OMIM:235400																		owl:Class
MONDO:0001024	biolink:NamedThing	pneumonic plague	A plague in which the bacteria have infected the lungs.	mondoexuq1wtf	secondary pneumonic plague|primary pneumonic plague											ICD10:A20.2|UMLS:C0524688|SCTID:35339003|ICD9:020.4|ICD9:020.5|ICD9:020.3|DOID:10398																		owl:Class
MONDO:0019095	biolink:NamedThing	plague	Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.	mondoexuq1wtf	black death|pest|pestilential fever|plague|infection by Yersinia pestis|Yersiniosis											ICD10:A20|ICD10:A20.9|MedDRA:10035148|ICD10:A20.1|ICD9:020.9|ICD10:A20.2|ICD10:A20.8|MESH:D010930|SCTID:58750007|NCIT:C85015|UMLS:C0032064|ICD10:A20.7|ICD9:020|Orphanet:707|ICD10:A20.0|ICD9:136.8|MedDRA:10061416|DOID:3482|ICD10:A20.3																		owl:Class
MONDO:0011244	biolink:NamedThing	Marshall-Smith syndrome	Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.	mondoexuq1wtf	Marshall-Smith syndrome|MRSHSS|accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|Marshall-SMITH syndrome											ICD9:759.89|DOID:0050858|ICD10:Q87.3|OMIM:602535|SCTID:73284007|MESH:C536026|GARD:0006985|Orphanet:561|UMLS:C0265211														https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome				owl:Class
MONDO:0009734	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 1	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.	mondoexuq1wtf	ABCC8 hyperinsulinemic hypoglycemia (disease)|persistent hyperinsulinemic hypoglycemia of infancy|HHF1|Nesidioblastosis of pancreas|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hyperinsulinism, familial, with pancreatic Nesidioblastosis|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, type 1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hypoglycemia, hyperinsulinemic, of infancy											SCTID:360339005|DOID:0070219|OMIM:256450																		owl:Class
MONDO:0000996	biolink:NamedThing	prostate lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.	mondoexuq1wtf	lymphoma of the prostate|lymphoma of prostate gland|prostate lymphoma|primary prostate lymphoma|prostate gland lymphoma|lymphoma of prostate											UMLS:C1335512|NCIT:C5533|DOID:10290																		owl:Class
MONDO:0021427	biolink:NamedThing	squamous cell carcinoma of lip	A squamous cell carcinoma that involves the lip.	mondoexuq1wtf	scc of the Lip|lip squamous cell carcinoma|scc of Lip|squamous cell carcinoma of the Lip|lip scc											UMLS:C0280302|Orphanet:502366|NCIT:C4042|SCTID:255071008																		owl:Class
MONDO:0018503	biolink:NamedThing	carcinoma of stomach, salivary gland type		mondoexuq1wtf	gastric carcinoma, salivary gland type											ICD10:C16.1|ICD10:C16.4|ICD10:C16.3|Orphanet:423781|ICD10:C16.6|ICD10:C16.5|UMLS:CN237508|ICD10:C16.8|ICD10:C16.2|ICD10:C16.0																		owl:Class
MONDO:0020384	biolink:NamedThing	Niemann-Pick disease type E	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.	mondoexuq1wtf												Orphanet:99022|ICD10:E75.2|SCTID:73399005																		owl:Class
MONDO:0023601	biolink:NamedThing	non-classic congenital adrenal hyperplasia	A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.	mondoexuq1wtf	late-onset congenital adrenal hyperplasia|LOCAH|non classic congenital adrenal hyperplasia|attenuated congenital adrenal hyperplasia|NCCAH|non-classic congenital adrenal hyperplasia											NCIT:C131442|UMLS:C0342467|MESH:C537877																		owl:Class
MONDO:0010078	biolink:NamedThing	spondyloperipheral dysplasia-short ulna syndrome	An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.	mondoexuq1wtf	spondyloperipheral dysplasia|spondyloperipheral dysplasia with short ulna											NCIT:C135088|MESH:C535799|SCTID:702339001|ICD9:758.89|OMIM:271700|UMLS:C0796173|GARD:0004994|ICD10:Q77.7|Orphanet:1856																		owl:Class
MONDO:0013920	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 3	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene.	mondoexuq1wtf	herpes simplex encephalitis, susceptibility to, 3|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced, susceptibility to, 5|herpes simplex encephalitis caused by mutation in TRAF3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5|TRAF3 herpes simplex encephalitis|IIAE5|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5											OMIM:614849																		owl:Class
MONDO:0000381	biolink:NamedThing	infiltrating renal pelvis transitional cell carcinoma	A infiltrating urothelial carcinoma that involves the renal pelvis.	mondoexuq1wtf												DOID:0050620																		owl:Class
MONDO:0004010	biolink:NamedThing	infiltrating renal pelvis/ureter urothelial carcinoma		mondoexuq1wtf	infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating renal pelvis and ureter transitional cell carcinoma|infiltrating ureter transitional cell carcinoma											NCIT:C39879|UMLS:C1512750																		owl:Class
MONDO:0000243	biolink:NamedThing	ectothrix infectious disease	A dermatophyte infection of the hair that infects the hair surface.	mondoexuq1wtf												DOID:0050097																		owl:Class
MONDO:0006506	biolink:NamedThing	congenital nonspherocytic hemolytic anemia	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.	mondoexuq1wtf	HNSHA|hereditary nonspherocytic hemolytic anemia											ICD9:282.3|MESH:D000746|EFO:1000641|SCTID:301317008|DOID:2861|UMLS:C0002882																		owl:Class
MONDO:0003689	biolink:NamedThing	familial hemolytic anemia	A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.	mondoexuq1wtf	congenital hemolytic anemia|anemia hemolytic congenital|hereditary hemolytic anemia											COHD:28396|ICD10:D58.9|SCTID:42601008|ICD9:282|ICD9:282.9|DOID:589|NCIT:C34379|MESH:D000745|GARD:0006167														https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia				owl:Class
MONDO:0040700	biolink:NamedThing	orbital dermoid cyst	A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.	mondoexuq1wtf	epidermal dermoid cyst|dermoid cyst of orbit|dermoid cyst of the orbit|orbit dermoid cyst											UMLS:C0346356|NCIT:C4548|SCTID:255002002																		owl:Class
MONDO:0020143	biolink:NamedThing	cerebral lipidosis with dementia		mondoexuq1wtf	cerebral lipidosis											Orphanet:98544|COHD:374906|ICD9:330.1|DOID:10742|UMLS:C0007788|SCTID:16517004																		owl:Class
MONDO:0005812	biolink:NamedThing	influenza	An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.	mondoexuq1wtf	influenza with non-respiratory manifestation|orthomyxoviridae infectious disease|flu|orthomyxoviridae disease or disorder|influenza infection|orthomyxoviridae caused disease or disorder|Influenza with other manifestations											EFO:0007328|MESH:D007251|DOID:8469|NCIT:C53482|COHD:320752|EFO:0007411|ICD10:J11.1|MESH:D009976|ICD9:487.8|SCTID:61700007|ICD9:487																		owl:Class
MONDO:0044740	biolink:NamedThing	salivary gland squamous cell carcinoma	A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.	mondoexuq1wtf	SCC of the salivary gland|epidermoid carcinoma of salivary gland|salivary gland squamous cell cancer|salivary gland SCC|SCC of salivary gland|squamous cell carcinoma of the salivary gland|salivary gland squamous cell carcinoma|squamous cell carcinoma of salivary gland|squamous cell carcinoma of salivary glands|epidermoid carcinoma of the salivary gland|saliva-secreting gland squamous cell carcinoma|salivary gland epidermoid carcinoma											Orphanet:500481|UMLS:C0279697|EFO:1001967|NCIT:C7991																		owl:Class
MONDO:0020560	biolink:NamedThing	atypical teratoid rhabdoid tumor	Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.	mondoexuq1wtf	malignant rhabdoid neoplasm of brain|rhabdoid tumor of central nervous system|primary malignant rhabdoid neoplasm of the brain|rhabdoid tumor predisposition syndrome|central nervous system rhabdoid neoplasm|rhabdoid tumor of the central nervous system|rhabdoid neoplasm of central nervous system|atypical teratoid/rhabdoid tumor (morphologic abnormality)|malignant rhabdoid tumor of the brain|primary malignant rhabdoid neoplasm of brain|primary malignant rhabdoid tumor of the brain|rhabdoid tumor of the CNS|malignant brain rhabdoid tumor|rhabdoid neoplasm of the central nervous system|CNS rhabdoid neoplasm|rhabdoid neoplasm of CNS|rhabdoid tumor of CNS|primary malignant brain rhabdoid tumor|rhabdoid neoplasm of the CNS|malignant rhabdoid neoplasm of the brain|CNS rhabdoid tumor|atypical teratoid/rhabdoid tumor (WHO grade IV)|malignant rhabdoid tumor of brain|ATRT|malignant brain rhabdoid neoplasm|central nervous system rhabdoid tumor|primary malignant brain rhabdoid neoplasm|ATT/RHT|primary malignant rhabdoid tumor of brain|atypical teratoid/rhabdoid tumor|AT/RT											NCIT:C6906|Orphanet:99966|UMLS:C1266184|ONCOTREE:ATRT|UMLS:CN207484|DOID:2129|ICD10:C49.9|EFO:1002008|ICDO:9508/3																		owl:Class
MONDO:0002217	biolink:NamedThing	central nervous system sarcoma	A sarcoma that arises from the central nervous system.	mondoexuq1wtf	central nervous system sarcoma|CNS sarcoma|sarcoma of CNS|sarcoma of central nervous system|sarcoma of the central nervous system|sarcoma of the CNS											DOID:2133|UMLS:C1332892|NCIT:C5153																		owl:Class
MONDO:0012307	biolink:NamedThing	familial scaphocephaly syndrome, McGillivray type	Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	mondoexuq1wtf	scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome											MESH:C566511|ICD10:Q87.0|UMLS:C1865070|Orphanet:168624|OMIM:609579																		owl:Class
MONDO:0015704	biolink:NamedThing	familial scaphocephaly syndrome		mondoexuq1wtf												ICD10:Q75.0|MedDRA:10072229|Orphanet:169163																		owl:Class
CL:0000980	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006547	biolink:NamedThing	exanthem	Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.	mondoexuq1wtf	skin Rash|Rash|exanthem (disease)|exanthem|skin eruption|exanthema|cutaneous eruption		exanthem (disease)									Wikipedia:Exanthem|ICD10:R21|ICD9:782.1|NCIT:C39594|EFO:1000697|DOID:0050486|HP:0000988|SCTID:271807003|MESH:D005076																		owl:Class
MONDO:0003999	biolink:NamedThing	juvenile pilocytic astrocytoma	A pilocytic astrocytoma that occurs during adolescence.	mondoexuq1wtf	juvenile pilocytic astrocytoma											NCIT:C27081|DOID:6811|UMLS:C0280783																		owl:Class
MONDO:0004000	biolink:NamedThing	childhood pilocytic astrocytoma	A pilocytic astrocytoma that occurs during childhood.	mondoexuq1wtf	pediatric pilocytic astrocytoma|pilocytic astrocytoma|pilocytic astrocytoma of childhood|childhood pilocytic astrocytoma											NCIT:C4048|DOID:6812|UMLS:C1332995																		owl:Class
MONDO:0021896	biolink:NamedThing	anterior spinal artery stroke		mondoexuq1wtf												GARD:0009653|UMLS:C2931608|MESH:C537776														https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke				owl:Class
MONDO:0020688	biolink:NamedThing	spinal cord ischemia	Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.	mondoexuq1wtf	spinal cord Ischemias|myelopathies, ischemic|spinal cord ischemia, experimental|ischemic myelopathies|cord ischemia, spinal|cord Ischemias, spinal|myelopathy, ischemic|ischemias, spinal cord|experimental spinal cord ischemia|ischemic myelopathy|ischemia, spinal cord											MESH:D020760																		owl:Class
MONDO:0004368	biolink:NamedThing	sphenoorbital meningioma	A meningioma that affects the sphenoorbital region.	mondoexuq1wtf												DOID:7819|NCIT:C5285|UMLS:C1336040																		owl:Class
MONDO:0002998	biolink:NamedThing	skull base meningioma	A meningioma that arises from the skull base.	mondoexuq1wtf	meningioma of the skull base|skull base meningioma|basicranium meningioma (disease)|meningioma of skull base|meningioma (disease) of basicranium											NCIT:C5272|UMLS:C1335976|DOID:4437																		owl:Class
MONDO:0018103	biolink:NamedThing	Quinquaud's folliculitis decalvans	Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.	mondoexuq1wtf	Quinquaud's decalvans folliculitis|folliculitis decalvans|Quinquaud's disease|Quinquaud’s disease											UMLS:CN227263|ICD9:704.09|ICD10:L66.2|Orphanet:346|SCTID:53593008|GARD:0000373														https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis				owl:Class
MONDO:0006137	biolink:NamedThing	cervical intraepithelial neoplasia grade 2/3	A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.	mondoexuq1wtf	CIN 2/3											UMLS:C2986622|NCIT:C94676|EFO:1000166																		owl:Class
MONDO:0005153	biolink:NamedThing	cervical adenocarcinoma	An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.	mondoexuq1wtf	adenocarcinoma of uterine cervix|adenocarcinoma of the uterine cervix|adenocarcinoma - cervix|adenocarcinoma of the cervix|uterine cervix adenocarcinoma|adenocarcinoma cervix uteri|adenocarcinoma of the cervix uteri|cervix adenocarcinoma|adenocarcinoma of cervix|cervical adenocarcinoma|adenocarcinoma of cervix uteri|cervix uteri adenocarcinoma											EFO:0001416|NCIT:C4029|DOID:3702|SCTID:254887002|ONCOTREE:CEAD																		owl:Class
MONDO:0017998	biolink:NamedThing	PLA2G6-associated neurodegeneration	Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.	mondoexuq1wtf	PLA2G6 neurodegeneration with brain iron accumulation|plan|neurodegeneration with brain iron accumulation caused by mutation in PLA2G6											Orphanet:329303|GARD:0012567|ICD10:G23.0																		owl:Class
MONDO:0009424	biolink:NamedThing	Bartter disease type 2	Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.	mondoexuq1wtf	Bartter syndrome antenatal type 2|BARTS2|Bartter syndrome type 2|hypokalemic alkalosis with hypercalciuria 2, antenatal|Bartter syndrome type 2 antenatal|Bartter syndrome, antenatal, type 2|Bartter syndrome caused by mutation in KCNJ1|hyperprostaglandin E syndrome 2|hypokalemic alkalosis with hypercalciuria antenatal 2|Bartter syndrome, type 2, antenatal|hypokalemic alkalosis with hypercalciuria 2 antenatal|hypokalemic alkalosis with hypercalciuria, antenatal, 2|KCNJ1 Bartter syndrome											OMIM:241200|MESH:C537651|GARD:0009658|SCTID:700109009|DOID:0110143|ICD10:E26.8																		owl:Class
MONDO:0010351	biolink:NamedThing	Fanconi anemia complementation group B	Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.	mondoexuq1wtf	FA2|Fanconi Anemia, complementation group type B|Fanconi anemia, complementation group B|FANCB|Fanconi anemia complementation group type B|FACB|Fanconi pancytopenia type 2|Fanconi pancytopenia, type 2											MESH:C564497|UMLS:C1845292|OMIM:300514|DOID:0111098|NCIT:C125703																		owl:Class
MONDO:0030962	biolink:NamedThing	nephrotic syndrome, type 23		mondoexuq1wtf	nephrotic syndrome, type 23|NPHS23											OMIM:619201																		owl:Class
MONDO:0002350	biolink:NamedThing	familial nephrotic syndrome	An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	congenital nephrotic syndrome|hereditary nephrotic syndrome											ICD10:N04|SCTID:48796009|NCIT:C35337|UMLS:C3501848|OMIMPS:256300|UMLS:CN043611|DOID:2590																		owl:Class
MONDO:0006802	biolink:NamedThing	inappropriate ADH syndrome	A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.	mondoexuq1wtf	SIADH|inappropriate Arginine vasopressin secretion|ectopic antidiuretic hormone secretion|inappropriate antidiuretic hormone secretion syndrome|ectopic ADH secretion|syndrome of inappropriate vasopressin secretion|syndrome of inappropriate antidiuretic hormone secretion|inappropriate ADH secretion|syndrome of inappropriate secretion of ADH|syndrome of inappropriate antidiuretic hormone|syndrome of inappropriate secretion of antidiuretic hormone											DOID:3401|SCTID:55004003|MESH:D007177|UMLS:C0021141|NCIT:C3988|ICD9:253.6|ICD10:E22.2|MedDRA:10042818|EFO:1000982																		owl:Class
MONDO:0019494	biolink:NamedThing	primary pediatric heart tumor	Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.	mondoexuq1wtf	heart tumor of child|pediatric heart neoplasm|Cardiac tumor of child											UMLS:CN206281|ICD10:D15.1|Orphanet:875|ICD10:C38.0																		owl:Class
MONDO:0007916	biolink:NamedThing	primary intestinal lymphangiectasia	Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.	mondoexuq1wtf	familial Waldmann's disease (type)|Waldmann disease|lymphangiectasia, intestinal|Waldmann's disease|primary intestinal lymphangiectasis											UMLS:C0267372|ICD10:I89.0|OMIM:152800|SCTID:6124009|UMLS:CN206410|ICD9:457.1|GARD:0007873|Orphanet:90362														https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia				owl:Class
MONDO:0018178	biolink:NamedThing	intestinal lymphangiectasia	Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.	mondoexuq1wtf	intestinal lymphangiectasia|intestinal lymphangiectasia (disease)		intestinal lymphangiectasia (disease)									HP:0002593|GARD:0012331|Orphanet:36204|ICD10:I89.0|MedDRA:10025213|SCTID:197260007|ICD9:457.1																		owl:Class
MONDO:0021009	biolink:NamedThing	salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	mondoexuq1wtf	mucoepidermoid carcinoma of the salivary gland|salivary gland mucoepidermoid carcinoma|saliva-secreting gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland											SCTID:423708008|NCIT:C5908|UMLS:C1335903																		owl:Class
MONDO:0044964	biolink:NamedThing	oral cavity mucoepidermoid carcinoma	A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.	mondoexuq1wtf	mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid carcinoma|oral cavity mucoepidermoid cancer											UMLS:C0280309|NCIT:C8177																		owl:Class
MONDO:0006533	biolink:NamedThing	cholesteatoma of middle ear	A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.	mondoexuq1wtf	middle ear cholesteatoma|cholesteatoma of middle ear and/or mastoid|cholesteatoma of middle ear and mastoid|Epidermosis of middle ear|cholesteatoma (disease) of middle ear|cholesteatoma of the middle ear|middle ear cholesteatoma (disease)|cholesteatoma of middle ear|unspecified cholesteatoma (morphologic abnormality)|Epidermosis of ear											NCIT:C3654|UMLS:C0155490|MESH:D018424|ICD9:385.3|SCTID:194339007|DOID:10964|COHD:381585|EFO:1000678|ICD10:H71|ICD9:385.33|ICD9:385.32																		owl:Class
MONDO:0011686	biolink:NamedThing	DNA ligase IV deficiency	LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).	mondoexuq1wtf	ligase 4 syndrome|LIG4 syndrome|DNA ligase IV deficiency											MESH:C564694|OMIM:606593|SCTID:724177005|NCIT:C122657|DOID:0060021|ICD10:D81.1|UMLS:C1847827|Orphanet:99812																		owl:Class
MONDO:0008910	biolink:NamedThing	carboxypeptidase N deficiency	An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.	mondoexuq1wtf	carboxypeptidase N deficiency											DOID:0111583|UMLS:C0398782|SCTID:234627009|NCIT:C132196|OMIM:212070|MESH:C562876|ICD9:279.8																		owl:Class
MONDO:0017036	biolink:NamedThing	Langerhans cell histiocytosis in childhood and adulthood		mondoexuq1wtf	histiocytosis X in childhood and adulthood|Langerhans cell granulomatosis in childhood and adulthood					Editor note: check semantics						Orphanet:264955																		owl:Class
MONDO:0014847	biolink:NamedThing	spermatogenic failure 15	Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.	mondoexuq1wtf	spermatogenic failure 15; SPGF15|spermatogenic failure type 15|spermatogenic failure 15|SYCE1 azoospermia|SPGF15|azoospermia caused by mutation in SYCE1											OMIM:616950|UMLS:C4310779|DOID:0070172																		owl:Class
MONDO:0034099	biolink:NamedThing	SYNGAP1-related developmental and epileptic encephalopathy	A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).	mondoexuq1wtf												Orphanet:544254																		owl:Class
MONDO:0004248	biolink:NamedThing	pediatric infratentorial ependymoma	An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.	mondoexuq1wtf	pediatric infratentorial ependymoma|childhood infratentorial ependymoma|infratentorial ependymoma											NCIT:C9041|UMLS:C0278599|DOID:7501																		owl:Class
MONDO:0010199	biolink:NamedThing	white forelock with malformations	White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.	mondoexuq1wtf	white forelock with malformations											OMIM:277740|SCTID:763619009|MESH:C536700|UMLS:C1848463|Orphanet:2475|ICD10:Q87.8|GARD:0010081														https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations				owl:Class
MONDO:0017435	biolink:NamedThing	popliteal pterygium syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.	mondoexuq1wtf	facio-genito-popliteal syndrome|PPS					Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas)						UMLS:C0265259|DOID:0060055|NCIT:C118786|Orphanet:294963|SCTID:66783006|ICD9:756.89|MESH:C562509																		owl:Class
MONDO:0023646	biolink:NamedThing	lipodermatosclerosis	Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.	mondoexuq1wtf	acute lipodermatosclerosis|sclerosing panniculitis|hypodermitis sclerodermaformis											SCTID:410016009|UMLS:C0406500|GARD:0009671|MESH:C537026														https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis				owl:Class
MONDO:0003791	biolink:NamedThing	prostatic urethral cancer	A male urethral cancer that involves the prostatic urethra.	mondoexuq1wtf	male urethral cancer of prostatic urethra|prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm											DOID:6167|NCIT:C39870|UMLS:C1514523																		owl:Class
MONDO:0004197	biolink:NamedThing	male urethral cancer	A cancer involving a male urethra.	mondoexuq1wtf	male urethra cancer|cancer of male urethra|malignant male urethra neoplasm|malignant neoplasm of male urethra|Male urethral malignant neoplasm											DOID:736|NCIT:C39867|UMLS:C1518164																		owl:Class
MONDO:0008774	biolink:NamedThing	2-aminoadipic 2-oxoadipic aciduria		mondoexuq1wtf	AMOXAD|2-aminoadipic 2-oxoadipic aciduria|Alpha-aminoadipic aciduria											OMIM:204750|Orphanet:79154|DOID:0111453|ICD10:E72.3																		owl:Class
MONDO:0017351	biolink:NamedThing	inborn disorder of lysine and hydroxylysine metabolism		mondoexuq1wtf	disorder of lysine and hydroxylysine metabolism											Orphanet:289832|SCTID:237929000|ICD9:270.7|ICD10:E72.3|ICD9:270.8																		owl:Class
MONDO:0012764	biolink:NamedThing	RIDDLE syndrome	An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	mondoexuq1wtf	RNF168 deficiency|RIDDLE syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome											ICD10:D82.8|UMLS:C2677792|OMIM:611943|MESH:C567453|EFO:0009055|DOID:0090113|Orphanet:420741																		owl:Class
MONDO:0020045	biolink:NamedThing	autosomal recessive cerebellar ataxia due to a DNA repair defect		mondoexuq1wtf												Orphanet:98097|ICD10:G11.3|UMLS:CN227741																		owl:Class
MONDO:0021804	biolink:NamedThing	silicotuberculosis	Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis.	mondoexuq1wtf	silicotuberculosis|Silicotuberculosis|Silicotuberculoses											MESH:D012830|UMLS:C0037118|ICD9:502|SCTID:233763009																		owl:Class
MONDO:0018227	biolink:NamedThing	hypocomplementemic urticarial vasculitis	Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.	mondoexuq1wtf	McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis|McDuffie syndrome|Mac Duffie syndrome											UMLS:CN204757|UMLS:C0343206|ICD10:M31.8|Orphanet:36412|GARD:0006725|SCTID:239945009														https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis				owl:Class
MONDO:0000958	biolink:NamedThing	neuroretinitis	Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.	mondoexuq1wtf	Juxtapapillary focal retinitis and retinochoroiditis|papilloretinitis|focal retinitis and retinochoroiditis, juxtapapillary											ICD9:363.05|COHD:432630|DOID:10176|UMLS:C0154874|ICD10:H30.9																		owl:Class
MONDO:0010159	biolink:NamedThing	mismatch repair cancer syndrome 1	A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.	mondoexuq1wtf	MMRCS1|glioma-polyposis syndrome|constitutional MIS-match repair deficiency syndrome|childhood cancer syndrome|MMRCS|MMR deficiency|malignant tumors of the central nervous system associated with familial polyposis of the colon|brain tumor-polyposis syndrome 1|mismatch repair deficiency|brain tumor-polyposis syndrome|CMMR-D|mismatch repair cancer syndrome|CNS tumors with familial polyposis of the colon|Turcot syndrome|CMMR-D syndrome|BTP1 syndrome|constitutional mismatch repair deficiency syndrome											MESH:C536928|UMLS:C0265325|Orphanet:252202|NCIT:C130202|OMIM:276300|UMLS:C4321324|GARD:0000420|SCTID:61665008																		owl:Class
MONDO:0018987	biolink:NamedThing	granulomatous mastitis	A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.	mondoexuq1wtf	idiopathic granulomatous lobular mastitis|granulomatous lobular mastitis|idiopathic granulomatous mastitis											GARD:0013119|ICD10:N61|SCTID:237444008|UMLS:C0405469|MESH:D058890|Orphanet:64722																		owl:Class
MONDO:0000293	biolink:NamedThing	coenurosis	A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.	mondoexuq1wtf	coenuriasis|caenurosis|sturdy|infection by tapeworm larva|coenurosis|infection by larvae of multiceps											ICD9:123.8|DOID:0050251|UMLS:C0009225|SCTID:24360007																		owl:Class
MONDO:0000367	biolink:NamedThing	taeniasis	A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.	mondoexuq1wtf	taenia saginata infection|Taenia infection|infection by Taeniarhynchus saginatus|beef tapeworm infection|unarmed tapeworm infection|infections, Taenia|infection by taenia saginata|Taenia saginata infectious disease											SCTID:69163003|UMLS:C0152073|EFO:1001433|ICD10:B68|ICD9:123.2|NCIT:C85180|ICD10:B68.1|DOID:0050596|MESH:D013622																		owl:Class
MONDO:0004426	biolink:NamedThing	frontal convexity meningioma	A meningioma that affects the frontal sulcus.	mondoexuq1wtf												NCIT:C5292|DOID:8000|UMLS:C1333643																		owl:Class
MONDO:0003774	biolink:NamedThing	cerebral convexity meningioma	A meningioma that affects the cerebral sulcus.	mondoexuq1wtf	cerebral hemispheric convexity meningioma											UMLS:C0751303|DOID:6114|NCIT:C4959																		owl:Class
MONDO:0017205	biolink:NamedThing	primary oculocerebral lymphoma	Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.	mondoexuq1wtf	primary oculocerebral non-Hodgkin lymphoma											Orphanet:279897																		owl:Class
MONDO:0004034	biolink:NamedThing	eye lymphoma	A lymphoma that involves the eye.	mondoexuq1wtf	eyeball of camera-type eye lymphoma|eye lymphoma|primary eye lymphoma|lymphoma of eyeball of camera-type eye											DOID:6903|UMLS:C1333519|NCIT:C35690																		owl:Class
MONDO:0010243	biolink:NamedThing	X-linked immunoneurologic disorder	X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	mondoexuq1wtf	X-linked immunoneurological disorder|immunoneurologic disorder, X-linked|Woods Black Norbury syndrome|neonatal death immune deficiency|Woods-Black-Norbury syndrome											UMLS:C1848144|ICD10:D82.8|GARD:0000274|Orphanet:2571|SCTID:719827008|MESH:C536743|OMIM:300076																		owl:Class
MONDO:0015132	biolink:NamedThing	immunodeficiency predominantly affecting antibody production		mondoexuq1wtf												ICD10:D80.2|Orphanet:101977|ICD10:D80.0|ICD10:D80.4|ICD10:D80.9|ICD10:D80.7|ICD10:D80.1|ICD10:D80.8|ICD10:D80.3|ICD10:D80.5|ICD10:D80.6																		owl:Class
MONDO:0012099	biolink:NamedThing	AICA-ribosiduria	AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.	mondoexuq1wtf	Atic deficiency|ATIC deficiency|AICAR transformylase/IMP cyclohydrolase deficiency|Aica-Ribosuria due to Atic deficiency|5-amino-4-imidazole carboxamide ribosiduria											UMLS:C4510943|ICD10:E79.8|SCTID:725289009|MESH:C563876|OMIM:608688|UMLS:C1837530|Orphanet:250977																		owl:Class
MONDO:0001637	biolink:NamedThing	cicatricial entropion		mondoexuq1wtf												UMLS:C0155191|DOID:13113|SCTID:67383002|ICD9:374.04|COHD:374650																		owl:Class
MONDO:0000953	biolink:NamedThing	cancer of short bone of lower limb		mondoexuq1wtf	malignant neoplasm of short bone of lower limb|malignant neoplasm of short bones of leg											SCTID:712525007|DOID:10151|ICD9:170.8|ICD10:C40.3|UMLS:C0153518																		owl:Class
MONDO:0019003	biolink:NamedThing	multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).	mondoexuq1wtf	MEN2|multiple endocrine neoplasia type 2											ICD9:194.8|UMLS:C4048306|UMLS:CN073359|ICD9:258.02|NCIT:C123329|Orphanet:653|SCTID:61808009|MedDRA:10028191|ICD10:D44.8|GARD:0003830|COHD:24612														https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2				owl:Class
MONDO:0015075	biolink:NamedThing	thyroid gland carcinoma	A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.	mondoexuq1wtf	cancer of thyroid|thyroid cancer|carcinoma of the thyroid|thyroid gland cancer|carcinoma of thyroid|head and neck cancer, thyroid|thyroid carcinoma|thyroid gland carcinoma|cancer of the thyroid|carcinoma of the thyroid gland|carcinoma of thyroid gland											HP:0002890|EFO:1000586|SCTID:448216007|DOID:3963|NCIT:C4815|MedDRA:10007476|UMLS:C0549473|Orphanet:100088																		owl:Class
MONDO:0023579	biolink:NamedThing	Kuster Majewski Hammerstein syndrome		mondoexuq1wtf	alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation					Editor note: consider merging with MONDO:0021849						GARD:0003151|UMLS:C2931740|MESH:C538125														https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome				owl:Class
MONDO:0021320	biolink:NamedThing	malignant tumor of floor of mouth	A cancer that involves the mouth floor.	mondoexuq1wtf	malignant floor of the mouth neoplasm|malignant mouth floor neoplasm|malignant floor of mouth tumor|malignant floor of the mouth tumor|malignant neoplasm of floor of mouth|malignant tumor of the floor of the mouth|mouth floor cancer|malignant floor of mouth neoplasm|cancer of mouth floor|malignant neoplasm of the floor of the mouth|malignant neoplasm of mouth floor											NCIT:C9318|ICD9:144.9|ICD9:144.8|SCTID:363385007																		owl:Class
MONDO:0014991	biolink:NamedThing	Seckel syndrome 10	Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.	mondoexuq1wtf	NSMCE2 Seckel syndrome|Seckel syndrome 10|Seckel syndrome caused by mutation in NSMCE2|Seckel syndrome type 10|SCKL10											UMLS:C4310647|DOID:0070008|OMIM:617253																		owl:Class
MONDO:0015160	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		mondoexuq1wtf	multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|MCA/variable MR											Orphanet:102284																		owl:Class
MONDO:0019042	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome		mondoexuq1wtf	MCAHS											Orphanet:68341																		owl:Class
MONDO:0004959	biolink:NamedThing	plasma cell neoplasm	A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.	mondoexuq1wtf	plasma cell neoplasm|plasma cell tumor, malignant|plasma cell tumor|plasmacytic neoplasm|plasmacytic tumour|plasmacytic tumor|plasma cell tumour|plasma cell disorder|plasma cell dyscrasia					See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39						Orphanet:98282|UMLS:C1959632|ICD9:238.6|MESH:D054219|DOID:6536|SCTID:415111003|EFO:0000200|NCIT:C4665|COHD:443743																		owl:Class
MONDO:0013083	biolink:NamedThing	neuroblastoma, susceptibility to, 3	Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.	mondoexuq1wtf	neuroblastoma caused by mutation in ALK|ALK neuroblastoma|neuroblastoma, susceptibility to, type 3|neuroblastoma, susceptibility to, 3|susceptibility to neuroblastoma 3|NBLST3											OMIM:613014																		owl:Class
MONDO:0001966	biolink:NamedThing	chronic closed-angle glaucoma	Chronic form of angle-closure glaucoma.	mondoexuq1wtf	chronic angle-closure glaucoma|angle-closure glaucoma, chronic|chronic narrow angle glaucoma|anatomical narrow angle glaucoma											COHD:432312|SCTID:33647009|UMLS:C0154947|ICD9:365.23|DOID:14445|ICD10:H40.22																		owl:Class
MONDO:0001868	biolink:NamedThing	primary angle-closure glaucoma	An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.	mondoexuq1wtf	primary angle closure glaucoma											UMLS:C0017606|EFO:1001506|ICD9:365.20|ICD10:H40.2|ICD10:H40.20|NCIT:C34640|COHD:435543|DOID:1405|ICD9:365.2|SCTID:392288006																		owl:Class
MONDO:0016559	biolink:NamedThing	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.	mondoexuq1wtf	megalocornea-spherophakia-secondary glaucoma syndrome											Orphanet:238763|ICD10:Q15.8|GARD:0010942|UMLS:CN201642																		owl:Class
MONDO:0006617	biolink:NamedThing	vesiculobullous skin disease	Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)	mondoexuq1wtf	vesiculobullous skin disease|subcorneal pustular dermatosis|skin disease, bullous|bullous skin disease|bullous dermatoses|subcorneal pustular dermatoses|dermatosis, subcorneal pustular|bullous skin diseases|Sneddon Wilkinson disease|skin diseases, bullous|Sneddon-Wilkinson disease|dermatoses, vesiculobullous|skin diseases, vesicular|dermatoses, bullous|dermatoses, subcorneal pustular|vesiculobullous dermatoses|vesiculobullous skin diseases|skin disease, vesicular|pustular dermatoses, subcorneal|skin disease, vesiculobullous|vesicular skin diseases|vesicular skin disease|pustular dermatosis, subcorneal											UMLS:C0037275|EFO:1000774|DOID:2731|MESH:D012872																		owl:Class
MONDO:0008729	biolink:NamedThing	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.	mondoexuq1wtf	adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|CAH due to 11-beta-hydroxylase deficiency|CYP11B1 deficiency|steroid 11-Beta-Hydroxylase deficiency|adrenal hyperplasia, hypertensive form|adrenal hyperplasia IV|adrenal hyperplasia hypertensive form|adrenal hyperplasia 4|P450C11B1 deficiency|11-Beta-Hydroxylase deficiency											SCTID:124214007|UMLS:C0268292|ICD10:E25.0|Orphanet:90795|GARD:0005658|MedDRA:10000002|MESH:C535978|ICD9:277.6|NCIT:C131085|OMIM:202010																		owl:Class
MONDO:0019593	biolink:NamedThing	46,XX disorder of sex development induced by fetal androgens excess		mondoexuq1wtf	46,XX DSD induced by fetal androgens excess											UMLS:CN227655|ICD10:E25.0|Orphanet:90776																		owl:Class
MONDO:0009197	biolink:NamedThing	transient erythroblastopenia of childhood	An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.	mondoexuq1wtf	transient erythroblastopenia of childhood|familial transient erythroblastopenia of childhood|tec|transient acquired pure red cell aplasia|erythroblastopenia, transient											ICD9:284.81|OMIM:227050|ICD10:D60.1|UMLS:C0451688|UMLS:C0238478|GARD:0007793|MESH:C536980|Orphanet:98871|SCTID:191255003|NCIT:C131683														https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood				owl:Class
MONDO:0023691	biolink:NamedThing	maple syrup urine disease type 1A	A maple syrup urine disease caused by mutations in BCKDHA.	mondoexuq1wtf	MSUD type 1A											GARD:0008594														https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a				owl:Class
MONDO:0009563	biolink:NamedThing	maple syrup urine disease	An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.	mondoexuq1wtf	maple syrup urine disease, type 2|maple syrup urine disease, type 1A|MSUD|maple syrup urine disease, classic|dihydrolipoamide dehydrogenase deficiency|branched chain ketoaciduria|branched-chain ketoaciduria|Keto acid decarboxylase deficiency|maple syrup urine disease, Intermediate|maple syrup urine disease, type 1B|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, intermittent|maple syrup urine disease|BCKD deficiency|BCKDH deficiency|branched-chain 2-ketoacid dehydrogenase deficiency|branched-chain Alpha-Keto acid dehydrogenase deficiency|Ketoacidaemia					Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct						UMLS:C0024776|GARD:0003228|MedDRA:10026817|MESH:D008375|ICD10:E71.0|NCIT:C34806|OMIMPS:248600|SCTID:27718001|DOID:9269|OMIM:248600|Orphanet:511																		owl:Class
MONDO:0023692	biolink:NamedThing	maple syrup urine disease type 1B	A maple syrup urine disease caused by mutations in BCKDHB.	mondoexuq1wtf	MSUD type IB|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|MSUD type 3 (formerly)											GARD:0008597														https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b				owl:Class
MONDO:0014294	biolink:NamedThing	chromosome 15q11.2 deletion syndrome	15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	mondoexuq1wtf	chromosome 15q11.2 deletion|15q11.2 microdeletion syndrome|chromosome 15q11.2 deletion syndrome|15q11.2 microdeletion|15q11.2 BP1-BP2 microdeletion syndrome|Del(15)(q11.2)|chromosome 15q11.2 microdeletion|monosomy 15q11.2											GARD:0010525|ICD10:Q93.5|UMLS:C3180937|Orphanet:261183|DOID:0060393|OMIM:615656																		owl:Class
MONDO:0000736	biolink:NamedThing	dyschromatosis universalis hereditaria	A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.	mondoexuq1wtf	dyschromatosis universalis|DUH											ICD10:L81.8|GARD:0001996|UMLS:C1306229|MESH:C535730|SCTID:239082002|DOID:0060304|UMLS:C2930995|OMIMPS:127500|Orphanet:241														https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria				owl:Class
MONDO:0033672	biolink:NamedThing	Duane anomaly-myopathy-scoliosis syndrome	Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.	mondoexuq1wtf												Orphanet:50817																		owl:Class
MONDO:0010187	biolink:NamedThing	vitamin K-dependent clotting factors, combined deficiency of, type 1	Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	mondoexuq1wtf	vitamin K-dependent clotting factors, combined deficiency of, 1|multiple coagulation Factor deficiency 3|VKCFD1|glutamic acid, deficient gamma-carboxylation of|vitamin K-dependent clotting factors, combined deficiency of, type 1|hereditary combined deficiency of factors II, VII, IX and X|Vkcfd|factors II, VII, IX, and X, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|familial multiple coagulation Factor deficiency 3|FMFD 3|vitamin K-dependent coagulation defect|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|hereditary combined deficiency of vitamin K-dependent clotting factors											UMLS:C1848534|ICD10:D68.2|Orphanet:98434|SCTID:724356003|MESH:C564741|OMIM:277450																		owl:Class
MONDO:0003377	biolink:NamedThing	extrahepatic bile duct leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	extrahepatic bile duct leiomyosarcoma|leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of the bile duct|leiomyosarcoma of bile duct|leiomyosarcoma of the extrahepatic bile duct|bile duct leiomyosarcoma											UMLS:C1333508|NCIT:C5848|DOID:5293																		owl:Class
MONDO:0003090	biolink:NamedThing	extrahepatic bile duct carcinoma	A carcinoma that arises from epithelial cells of the extrahepatic bile duct.	mondoexuq1wtf	carcinoma of the extrahepatic bile duct|carcinoma of extrahepatic bile duct|extrahepatic bile duct cancer|extrahepatic bile duct carcinoma											SCTID:372101000|DOID:4682|NCIT:C3860|UMLS:C0238019																		owl:Class
MONDO:0020652	biolink:NamedThing	immature teratoma of vulva		mondoexuq1wtf												ONCOTREE:VIMT																		owl:Class
MONDO:0020650	biolink:NamedThing	germ cell tumor of the vulva		mondoexuq1wtf												ONCOTREE:VGCT																		owl:Class
MONDO:0010567	biolink:NamedThing	cone dystrophy, X-linked, with tapetal-like sheen		mondoexuq1wtf	X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy, X-linked, with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen											GARD:0010119|UMLS:C1844775|MESH:C535975|OMIM:304030														https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen				owl:Class
MONDO:0054813	biolink:NamedThing	Ehlers-Danlos syndrome, classic-like, 2		mondoexuq1wtf	EDSCLL2|Ehlers-Danlos syndrome, classic-like, 2											Orphanet:536532|OMIM:618000|UMLS:CN248508																		owl:Class
MONDO:0000490	biolink:NamedThing	glomerulosclerosis	A hardening of the kidney glomerulus caused by scarring of the blood vessels.	mondoexuq1wtf	glomerular sclerosis											SCTID:197661001|UMLS:C0178664|COHD:261071|DOID:0050851|NCIT:C120888																		owl:Class
MONDO:0010049	biolink:NamedThing	spastic paraplegia-glaucoma-intellectual disability syndrome	Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	mondoexuq1wtf	spastic paresis, glaucoma, and intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma mental retardation|spastic paresis glaucoma intellectual disability											OMIM:270850|UMLS:C1849113|Orphanet:2818|MESH:C564809|GARD:0004931																		owl:Class
MONDO:0011670	biolink:NamedThing	Ehlers-Danlos syndrome due to tenascin-X deficiency		mondoexuq1wtf	EDS due to TNX deficiency|EDSCLL|Tnx deficiency|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|EDS due to Tnx deficiency|EDS, classic-like type|clEDS|TNX deficiency|classical-like EDS|classical-like Ehlers-Danlos syndrome|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like type|Ehlers-Danlos syndrome, classic-like											ICD10:Q79.6|UMLS:C1848029|OMIM:606408|Orphanet:230839|GARD:0008507|MESH:C536193																		owl:Class
MONDO:0030024	biolink:NamedThing	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities		mondoexuq1wtf	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities|NEDASB|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES											OMIM:618859																		owl:Class
MONDO:0009283	biolink:NamedThing	glutaric acidemia type 3	Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.	mondoexuq1wtf	glutaric aciduria type 3|glutaric aciduria 3|GA3|GA III|glutaryl-Coa oxidase deficiency|Ga 3|glutaric aciduria type III|glutaryl-CoA oxidase deficiency|SUGCT glutaric aciduria (disease)|glutaric aciduria (disease) caused by mutation in SUGCT|glutaric aciduria III|glutaric acidemia type III											Orphanet:35706|ICD9:270.2|OMIM:231690|UMLS:C0342873|MESH:C562818|SCTID:238070003|GARD:0012469|ICD10:E72.3														https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii				owl:Class
MONDO:0005520	biolink:NamedThing	rickets	Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.	mondoexuq1wtf	vitamin-D deficiency rickets|rachitis|vitamin D deficiency disease|rickets (disease)|hypovitaminosis D|vitamin D hydroxylation-deficient rickets|rickets|nutritional rickets|active rickets		rickets (disease)									ICD9:268.0|HP:0002748|MESH:D012279|GARD:0005700|SCTID:41345002|ICD10:E55.0|EFO:0005583|DOID:10609|COHD:438719|UMLS:C0035579|NCIT:C26878																		owl:Class
MONDO:0000888	biolink:NamedThing	gastrointestinal mucositis	Inflammation of the mucous membranes lining the gastrointestinal tract.	mondoexuq1wtf	gastrointestinal system mucosaitis|mucositis|inflammation of gastrointestinal system mucosa|gastrointestinal system mucosa inflammation											NCIT:C3853|COHD:437915|UMLS:C0521585|SCTID:95518006|ICD9:538|ICD9:558.9|MESH:D052016|DOID:0080178																		owl:Class
MONDO:0020579	biolink:NamedThing	mucositis	Inflammation of the mucous membranes.	mondoexuq1wtf	mucosa inflammation|mucositis|inflammation of mucosa											NCIT:C115965																		owl:Class
MONDO:0001541	biolink:NamedThing	plantar nerve lesion	A peripheral nerve lesion that involves the plantar nerve.	mondoexuq1wtf	lesion of plantar nerve|peripheral nerve lesion of plantar nerve|plantar nerve peripheral nerve lesion											SCTID:193148004|DOID:12524|ICD9:355.6|COHD:138148|ICD10:G57.6|UMLS:C0154752|ICD10:G57.60																		owl:Class
MONDO:0002688	biolink:NamedThing	duodenal obstruction	Blockage of the normal flow of stomach contents through the duodenum.	mondoexuq1wtf												UMLS:C0013292|EFO:1000908|MESH:D004380|ICD10:K31.5|DOID:3558|SCTID:95532008																		owl:Class
MONDO:0005777	biolink:NamedThing	granuloma inguinale	A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.	mondoexuq1wtf	donovanosis|pudendal ulcer|granuloma inguinale											ICD10:A58|GARD:0009532|DOID:9113|MESH:D006100|ICD9:099.2|SCTID:28867007|COHD:199726|UMLS:C0018190|EFO:0007291|NCIT:C3065														https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale				owl:Class
MONDO:0007048	biolink:NamedThing	acrokeratosis verruciformis	A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.	mondoexuq1wtf	AKV of Hopf|AKV|Hopf disease|acrokeratosis verruciformis of Hopf|acrokeratosis verruciformis											EFO:1000666|DOID:0050606|Orphanet:79151|MedDRA:10069445|ICD10:Q82.8|SCTID:400085009|ICD9:757.39|OMIM:101900|NCIT:C27519|UMLS:C0265971																		owl:Class
MONDO:0019945	biolink:NamedThing	solar urticaria	Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.	mondoexuq1wtf												UMLS:C0263610|ICD10:L56.3|ICD9:708.8|SCTID:10347006|Orphanet:97230|MedDRA:10041307																		owl:Class
MONDO:0010205	biolink:NamedThing	Wolman disease with hypolipoproteinemia and acanthocytosis		mondoexuq1wtf	Wolman disease with hypolipoproteinemia and acanthocytosis											OMIM:278100|MESH:C564736|UMLS:C1848436																		owl:Class
MONDO:0019148	biolink:NamedThing	Wolman disease	Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.	mondoexuq1wtf	familial visceral xanthomatosis|primary familial xanthomatosis with adrenal calcification|acid lipase deficiency|Wolman xanthomatosis|familial xanthomatosis|xanthomatosis, familial|Wolman's or triglyceride storage type III disease|Wolman's disease|liposomal acid lipase deficiency, Wolman type|lysosomal acid lipase deficiency|primary familial xanthomatosis|acid esterase deficiency|Wolman disease|deficiency of cholesterol esterase and triacylglycerol lipase											MESH:D015223|MedDRA:10053687|SCTID:238074007|DOID:14497|Orphanet:75233|GARD:0007899|UMLS:CN438428|ICD10:E75.5|SCTID:82500001|UMLS:C0043208|NCIT:C61271																		owl:Class
MONDO:0010281	biolink:NamedThing	Danon disease	Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	mondoexuq1wtf	lysosomal glycogen storage disease without acid maltase deficiency (formerly)|ANTOPOL disease|glycogenosis due to LAMP-2 deficiency|pseudoglycogenosis 2|glycogen storage disease type IIb|GSD IIb|GSD due to LAMP-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency|GSD IIb, formerly|glycogen storage disease limited to the heart|glycogen storage disease IIb|glycogen storage disease due to LAMP-2 deficiency|vacuolar cardiomyopathy and myopathy, X-linked|Antopol disease|lysosomal glycogen storage disease caused by mutation in LAMP2|vacuolar cardiomyopathy and myopathy X-linked|glycogen storage cardiomyopathy|Danon disease|GSD2B (formerly)|glycogen storage disease type 2b (formerly)|X-linked vacuolar cardiomyopathy and myopathy|lysosomal glycogen storage disease with normal acid maltase activity|LAMP2 lysosomal glycogen storage disease|lysosomal glycogen storage disease without acid maltase deficiency, formerly|pseudoglycogenosis II											DOID:0050437|GARD:0009730|OMIM:300257|MESH:D052120|SCTID:419097006|ICD9:759.89|Orphanet:34587|UMLS:C0878677|ICD10:E74.0|EFO:1001333|NCIT:C84735														https://rarediseases.info.nih.gov/diseases/9730/danon-disease				owl:Class
MONDO:0001063	biolink:NamedThing	cardia cancer	A malignant neoplasm involving the cardia of stomach.	mondoexuq1wtf	malignant cardia of stomach neoplasm|Ca cardia - stomach|malignant neoplasm of cardia of stomach|cancer of cardia of stomach|cardia of stomach cancer											ICD10:C16.0|SCTID:187732006|DOID:10548|ICD9:151.0|UMLS:C0153417																		owl:Class
MONDO:0100070	biolink:NamedThing	neuroendocrine disease	A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.	mondoexuq1wtf	neuroendocrine system disease				2018-12-17 22:24:52+00:00																									owl:Class
MONDO:0005151	biolink:NamedThing	endocrine system disease	A disease involving the endocrine system.	mondoexuq1wtf	disease or disorder of endocrine system|endocrine system disease|endocrine system disorder|endocrine disease|endocrinopathy|disorder of endocrine system|endocrine system disease or disorder|disease of endocrine system|thyroid or other glandular disorders|endocrine disorder											DOID:28|ICD9:259.8|MESH:D004700|UMLS:C0014130|ICD10:E34.9|NCIT:C3009|SCTID:362969004|EFO:0001379|ICD9:259.9																		owl:Class
MONDO:0009414	biolink:NamedThing	glycogen storage disease due to hepatic glycogen synthase deficiency	Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	mondoexuq1wtf	glycogen storage disease type 0, liver|GSD 0A|liver glycogen storage disease 0|glycogen storage disease 0, liver|glycogen storage disease type 0a|hepatic glycogen synthase deficiency|liver glycogen synthase deficiency|glycogenosis type 0a|liver glycogen storage disease due to glycogen synthase deficiency|liver GSD 0|hypoglycemia with deficiency of glycogen synthetase in the liver|glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of liver|GSD type 0a|GSD0A|glycogen storage disease due to liver glycogen synthase deficiency|glycogen storage disease type 0|GSD due to hepatic glycogen synthase deficiency											GARD:0002513|ICD10:E74.0|MESH:C565485|UMLS:C0342748|GARD:0002889|Orphanet:2089|SCTID:237964009|UMLS:C1855861|OMIM:240600																		owl:Class
MONDO:0019756	biolink:NamedThing	lobar holoprosencephaly	Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.	mondoexuq1wtf												Orphanet:93924|SCTID:253136007|ICD10:Q04.2																		owl:Class
MONDO:0000674	biolink:NamedThing	mirror agnosia	An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.	mondoexuq1wtf												DOID:0060144																		owl:Class
MONDO:0008999	biolink:NamedThing	Cohen syndrome	Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.	mondoexuq1wtf	Chs1|pepper syndrome|Coh|Cohen syndrome|hypotonia, obesity, and prominent incisors|COH1|Chs1, formerly|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness											ICD9:759.89|GARD:0006126|MedDRA:10049066|OMIM:216550|DOID:0111590|MESH:C536438|Orphanet:193|ICD10:Q87.8|UMLS:C1854061|SCTID:56604005														https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome				owl:Class
MONDO:0024282	biolink:NamedThing	mucinous ovarian cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.	mondoexuq1wtf	malignant ovarian mucinous tumor|ovarian mucinous neoplasm, malignant|malignant ovarian mucinous neoplasm											NCIT:C40033|ONCOTREE:MOV|UMLS:C1518233																		owl:Class
MONDO:0005695	biolink:NamedThing	central nervous system AIDS arteritis	Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.	mondoexuq1wtf	cerebral aneurysmal arteriopathy, AIDS-associated|Vasculitides, HIV-associated CNS|vasculitis, HIV-1-associated CNS|HIV-associated CNS vasculitis|CNS vasculitis, HIV associated|vasculitis of the central nervous system, HIV-associated|HIV associated vasculitis of the central nervous system|AIDS associated cerebral aneurysmal arteriopathy|HIV 1 associated CNS vasculitis|CNS vasculitis, HIV-1-associated|CNS vasculitis, HIV-associated|CNS Vasculitides, HIV-1-associated|HIV-associated CNS Vasculitides|HIV-1-associated CNS vasculitis|central nervous system AIDS arteritis|vasculitis of the central nervous system, HIV associated|CNS Vasculitides, HIV-associated|HIV-1-associated CNS Vasculitides|vasculitis, HIV-associated CNS|Vasculitides, HIV-1-associated CNS|HIV-associated vasculitis of the central nervous system|cerebral aneurysmal arteriopathy, AIDS associated|AIDS-associated cerebral aneurysmal arteriopathy											UMLS:C0752330|MESH:D020943|UMLS:C0752329|UMLS:C0752331|EFO:0007198																		owl:Class
MONDO:0002615	biolink:NamedThing	xanthomatosis	A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.	mondoexuq1wtf	xanthomatosis (disease)|xanthelasmatosis|xanthomatosis		xanthomatosis (disease)									HP:0000991|UMLS:C0043325|DOID:3345|SCTID:63103006																		owl:Class
MONDO:0005939	biolink:NamedThing	Reoviridae infectious disease	Infections produced by reoviruses, general or unspecified.	mondoexuq1wtf	Reoviridae infection|infection, Reovirus|infections, Reoviridae|infection, Reoviridae|infections, Reovirus|Reovirus infections|Reovirus infection											UMLS:C0035112|EFO:0007464|MESH:D012088																		owl:Class
MONDO:0014881	biolink:NamedThing	transketolase deficiency		mondoexuq1wtf	short stature, developmental delay, and congenital heart defects|TKT deficiency|SDDHD|short stature-developmental delay-congenital heart defect syndrome											UMLS:C4310751|Orphanet:488618|OMIM:617044																		owl:Class
MONDO:0018213	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 1	Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.	mondoexuq1wtf	neuropathy hereditary sensory radicular, autosomal dominant|hereditary sensory neuropathy type 1|HSN1|neuropathy hereditary sensory and autonomic type 1|HSAN 1|hereditary sensory and autonomic neuropathy type I|HSAN1											SCTID:397734008|PMID:18348718|GARD:6635|ICD10:G60.8|DOID:0070162|Orphanet:36386|GARD:0006635																		owl:Class
MONDO:0006180	biolink:NamedThing	digestive system adenoma	A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.	mondoexuq1wtf	digestive system adenoma|digestive tract adenoma|GI adenoma|gastrointestinal adenoma											DOID:4147|NCIT:C36207|EFO:1000217|UMLS:C0948101																		owl:Class
MONDO:0010878	biolink:NamedThing	hereditary spastic paraplegia 6	Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in NIPA1|autosomal dominant familial spastic paraplegia type 3|spastic paraplegia 6|SPG6|NIPA1 hereditary spastic paraplegia|FSP3|autosomal dominant spastic paraplegia 6|familial spastic paraplegia autosomal dominant 3|autosomal dominant spastic paraplegia type 6|familial spastic paraplegia, autosomal dominant, 3|hereditary spastic paraplegia type 6|spastic paraplegia 6, autosomal dominant											Orphanet:100988|MESH:C536866|SCTID:732949006|OMIM:600363|ICD10:G11.4|UMLS:C4518537|DOID:0110811|GARD:0004928|UMLS:C1838192																		owl:Class
MONDO:0017914	biolink:NamedThing	pure or complex autosomal dominant spastic paraplegia		mondoexuq1wtf	Pure or complicated autosomal dominant spastic paraplegia											Orphanet:320342|ICD10:G11.4																		owl:Class
MONDO:0018755	biolink:NamedThing	scorpion envenomation	Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.	mondoexuq1wtf	toxic effect of venom of scorpion|poisoning due to scorpion venom|poisoning caused by scorpion venom											ICD10:T63.2|SCTID:217670007|UMLS:CN242103|Orphanet:466677																		owl:Class
MONDO:0004332	biolink:NamedThing	lung hilum cancer	A malignant neoplasm involving the lung hilus.	mondoexuq1wtf	cancer of lung hilus|malignant hilar lung neoplasm|malignant lung hilus neoplasm|malignant tumor of the lung hilum|malignant neoplasm of the lung hilum|malignant neoplasm of lung hilus|malignant lung hilum tumor|malignant lung hilum neoplasm|lung hilus cancer|malignant hilar lung tumor|malignant tumor of lung hilum|malignant neoplasm of lung hilum|primary malignant neoplasm of hilus of lung											UMLS:C2607931|UMLS:C0346601|NCIT:C4566|SCTID:93827000|DOID:7696																		owl:Class
MONDO:0003639	biolink:NamedThing	lung hilum neoplasm	A benign or malignant neoplasm that arises from the hilar region of the lung.	mondoexuq1wtf	tumor of lung hilus|lung hilum neoplasm|neoplasm of lung hilus|hilar lung tumor|lung hilus neoplasm (disease)|lung hilus tumor|lung hilus neoplasm|hilar lung neoplasm|neoplasm of hilus of lung|lung hilum tumor											UMLS:C1290358|NCIT:C5671|DOID:5767|SCTID:126707007																		owl:Class
MONDO:0018907	biolink:NamedThing	craniopharyngioma	A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)	mondoexuq1wtf	Adamantinomatous tumor|Rathke pouch neoplasm|cystoma|Rathke's pouch neoplasm|craniopharyngioma (morphologic abnormality)|neoplasm of Rathke's pouch|craniopharyngioma (WHO grade I)|tumor of Rathke's pouch|Rathke pouch tumor|craniopharyngeal duct tumor|craniopharyngioma, benign|Dysodontogenic epithelial tumor|Rathke's pouch tumor											SCTID:189179009|GARD:0010486|NCIT:C2964|MESH:D003397|ICD9:237.0|ICDO:9350/1|UMLS:C0010276|EFO:1000209|DOID:3840|ICD10:D44.4|Orphanet:54595|MedDRA:10011318																		owl:Class
MONDO:0003991	biolink:NamedThing	villoglandular endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.	mondoexuq1wtf	villoglandular endometrial endometrioid adenocarcinoma											NCIT:C27846|DOID:6777|UMLS:C1336962																		owl:Class
MONDO:0000551	biolink:NamedThing	retroperitoneal neuroblastoma	A neuroblastoma that involves the retroperitoneal space.	mondoexuq1wtf	neuroblastoma of retroperitoneal space|retroperitoneal space neuroblastoma											DOID:0050937																		owl:Class
MONDO:0010910	biolink:NamedThing	enuresis, nocturnal, 1	Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.	mondoexuq1wtf	Bedwetting|enuresis, nocturnal, 1|ENUR1											OMIM:600631																		owl:Class
MONDO:0000022	biolink:NamedThing	nocturnal enuresis	Urination during sleep.	mondoexuq1wtf	bedwetting|sleep enuresis|enuresis, nocturnal					See genetic heterogeneity of OMIM 600631.						MESH:D053206|NCIT:C118172|COHD:193874|DC:0000133																		owl:Class
MONDO:0019130	biolink:NamedThing	tubular renal disease-cardiomyopathy syndrome	A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	mondoexuq1wtf												UMLS:CN205654|ICD10:N25.8|Orphanet:73224														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0021175	biolink:NamedThing	herpetic vulvovaginitis	Infection of the vulva and the vagina caused by herpes simplex virus.	mondoexuq1wtf	herpetic vulvovaginitis|Herpetic vulvovaginitis|Herpetic Vulvovaginitis											UMLS:C0019386|SCTID:27420004|ICD9:054.11|NCIT:C34697																		owl:Class
MONDO:0007513	biolink:NamedThing	ectodermal dysplasia with adrenal cyst		mondoexuq1wtf	ectodermal dysplasia with adrenal cyst|Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome											OMIM:129550|Orphanet:3391|MESH:C538015|UMLS:C1851850																		owl:Class
MONDO:0014210	biolink:NamedThing	intellectual disability-hypotonia-spasticity-sleep disorder syndrome		mondoexuq1wtf	intellectual disability, autosomal recessive type 37|mental retardation, autosomal recessive type 37|MRT37|intellectual disability, autosomal recessive 37|mental retardation, autosomal recessive 37											Orphanet:356996|OMIM:615493|UMLS:C3809672|ICD10:G93.8																		owl:Class
MONDO:0014445	biolink:NamedThing	Bardet-Biedl syndrome 17	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.	mondoexuq1wtf	Bardet-Biedl syndrome 17|BBS17|Bardet-Biedl syndrome type 17|Bardet-Biedl syndrome caused by mutation in LZTFL1|LZTFL1 Bardet-Biedl syndrome											ICD10:Q87.89|UMLS:C3714980|DOID:0110139|OMIM:615994																		owl:Class
MONDO:0013063	biolink:NamedThing	ventricular fibrillation, paroxysmal familial, 2	Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.	mondoexuq1wtf	VF2|ventricular fibrillation, paroxysmal familial, type 2|ventricular fibrillation, paroxysmal familial, 2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease)											OMIM:612956|UMLS:C2751829|MESH:C567841																		owl:Class
MONDO:0100234	biolink:NamedThing	paroxysmal familial ventricular fibrillation	A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.	mondoexuq1wtf	idiopathic ventricular fibrillation, non Brugada type|paroxysmal familial ventricular fibrillation|ventricular fibrillation, paroxysmal familial|paroxysmal ventricular fibrillation|idiopathic ventricular fibrillation|paroxysmal familial ventricular fibrillation (disorder)|IVF							http://orcid.org/0000-0001-5208-3432				GARD:0004227|Orphanet:228140														https://github.com/monarch-initiative/mondo/issues/2524				owl:Class
MONDO:0003965	biolink:NamedThing	Capgras syndrome	A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.	mondoexuq1wtf	Capgras delusion theory											NCIT:C34446|MESH:D002194|DOID:6680																		owl:Class
MONDO:0004359	biolink:NamedThing	delusional disorder	A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).	mondoexuq1wtf												NCIT:C94379|SCTID:48500005|ICD9:297.1|ICD10:F22.0|COHD:432590|DOID:778|ICD10:F22																		owl:Class
MONDO:0011170	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2G	Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|TCAP autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|Tcap autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2G|LGMD2G|limb-girdle muscular dystrophy due to telethonin deficiency											GARD:0010471|DOID:0110281|MESH:C566599|SCTID:720522001|ICD10:G71.0|Orphanet:34514|OMIM:601954																		owl:Class
MONDO:0016192	biolink:NamedThing	qualitative or quantitative defects of telethonin		mondoexuq1wtf												Orphanet:209056																		owl:Class
MONDO:0001400	biolink:NamedThing	schwannoma of ureter	A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.	mondoexuq1wtf	neurilemmoma of ureter|ureteral schwannoma|neurilemmoma of the ureter|schwannoma of the ureter|ureter neurilemmoma|ureteral neurilemmoma|ureter schwannoma											DOID:11888|UMLS:C1336877|NCIT:C6162																		owl:Class
MONDO:0000638	biolink:NamedThing	benign glioma	A form of glioma without malignant characteristics.	mondoexuq1wtf	glioma, benign											DOID:0060101																		owl:Class
MONDO:0010328	biolink:NamedThing	alpha-thalassemia-myelodysplastic syndrome	Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).	mondoexuq1wtf	ALPHA-thalassemia myelodysplasia syndrome|ATMDS|acquired hemoglobin H disease|Hemoglobin H disease, acquired|acquired HbH disease											SCTID:307343001|ICD9:282.49|UMLS:C0585216|ICD10:D46.7|Orphanet:231401|MESH:C563023|ICD10:D56.0|OMIM:300448																		owl:Class
MONDO:0016513	biolink:NamedThing	alpha-thalassemia-related diseases	This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*	mondoexuq1wtf												UMLS:CN201534|Orphanet:232288|ICD10:D56.0																		owl:Class
MONDO:0008754	biolink:NamedThing	alopecia - contractures - dwarfism - intellectual disability syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	mondoexuq1wtf	ACD-intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|alopecia-contractures-dwarfism intellectual disability syndrome|ACD intellectual disability syndrome|ACD mental retardation syndrome											MESH:C537051|Orphanet:1005|GARD:0000605|UMLS:C0795895|ICD10:Q87.8|OMIM:203550														https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome				owl:Class
MONDO:0001844	biolink:NamedThing	uterine corpus myxoid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.	mondoexuq1wtf												NCIT:C40166|UMLS:C1519860|DOID:13956																		owl:Class
MONDO:0004977	biolink:NamedThing	angioimmunoblastic T-cell lymphoma	A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.	mondoexuq1wtf	AILD|lymphogranulomatosis X|angioimmunoblastic T-cell lymphoma|T-cell lymphoma, AILD type|AITL|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic lymphadenopathy|immunoblastic lymphadenopathy|angioimmunoblastic lymphadenopathy type T-cell lymphoma|AILT											ICD10:C86.5|MEDDRA:10002449|ONCOTREE:AITL|MedDRA:10002449|ICDO:9767/1|DOID:0111147|MESH:D007119|UMLS:C0020981|ICD9:202.70|NCIT:C7528|SCTID:413537009|EFO:0000255|GARD:0011973|GARD:11973|ICDO:9705/3|Orphanet:86886														https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma				owl:Class
MONDO:0021421	biolink:NamedThing	carcinoid tumors, intestina		mondoexuq1wtf												OMIM:114900																		owl:Class
MONDO:0014432	biolink:NamedThing	Bardet-Biedl syndrome 2	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.	mondoexuq1wtf	BBS2|BBS2 Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome|BBS|Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome caused by mutation in BBS2											OMIM:615981|MESH:C537910|ICD10:Q87.89|UMLS:C2936863|DOID:0110124|GARD:0000821																		owl:Class
MONDO:0014692	biolink:NamedThing	retinitis pigmentosa 74	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.	mondoexuq1wtf	retinitis pigmentosa type 74|retinitis pigmentosa caused by mutation in BBS2|retinitis pigmentosa 74|RP74|BBS2 retinitis pigmentosa											OMIM:616562|UMLS:C4225281|DOID:0110401|ICD10:H35.5																		owl:Class
MONDO:0003387	biolink:NamedThing	urethra clear cell adenocarcinoma	A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.	mondoexuq1wtf	clear cell adenocarcinoma of the urethra|urethra clear cell adenocarcinoma|clear cell adenocarcinoma of urethra|urethral clear cell adenocarcinoma											NCIT:C6172|DOID:5307|UMLS:C1336886																		owl:Class
MONDO:0003200	biolink:NamedThing	urethra adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urethra	mondoexuq1wtf	urethra adenocarcinoma|urethral adenocarcinoma|adenocarcinoma of the urethra|UAD|adenocarcinoma of urethra											NCIT:C6167|DOID:4910|ONCOTREE:UAD|UMLS:C1336885																		owl:Class
MONDO:0003970	biolink:NamedThing	gastric fundus carcinoma	A carcinoma that arises from epithelial cells of the fundus of stomach.	mondoexuq1wtf	cancer of the gastric fundus|gastric fundus (stomach) cancer|Gastric fundus cancer|carcinoma of fundus of stomach|cancer of fundus of stomach|carcinoma of the gastric fundus|carcinoma of gastric fundus|fundus of stomach carcinoma|cancer of the fundus of the stomach|carcinoma of the fundus of the stomach|cancer of gastric fundus					Editor note: consider merge with gastric fundus cancer						DOID:6700|SCTID:254555008|UMLS:C0345799|NCIT:C8398																		owl:Class
MONDO:0005749	biolink:NamedThing	eosinophilic pneumonia	An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.	mondoexuq1wtf	eosinophilic pneumonia|pneumonia, eosinophilic											ICD10:J82|EFO:0007257|UMLS:C1527407|DOID:5870|NCIT:C35150																		owl:Class
MONDO:0003612	biolink:NamedThing	uterine ligament cancer	A primary or metastatic malignant neoplasm that affects the uterine ligament.	mondoexuq1wtf	malignant uterine ligament neoplasm|uterine ligament cancer|cancer of uterine ligament|malignant neoplasm of uterine ligament											NCIT:C126498|UMLS:C0864950|DOID:5727																		owl:Class
MONDO:0016326	biolink:NamedThing	lysosomal disease with hypertrophic cardiomyopathy		mondoexuq1wtf												UMLS:CN201159|Orphanet:217581																		owl:Class
MONDO:0009047	biolink:NamedThing	cryptorchidism	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	mondoexuq1wtf	cryptorchidism|cryptorchism|undescended testicle|undescended testis|undescended testes|cryptorchidism, unilateral or bilateral|undescended testicles|cryptorchidism (disease)		cryptorchidism (disease)									EFO:0004562|ICD10:Q53.9|OMIM:219050|SCTID:204878001|ICD9:752.5|DOID:11383|COHD:437655|ICD9:752.51|MESH:D003456|NCIT:C12326|HP:0000028																		owl:Class
MONDO:0007295	biolink:NamedThing	rolandic epilepsy	Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.	mondoexuq1wtf	benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes|BECTS|benign rolandic epilepsy|CENTRALOPATHIC epilepsy|sylvan seizures|benign epilepsy with centrotemporal spikes|BCECTS|BECRS|BRE|benign rolandic epilepsy of childhood (BREC)|benign childhood epilepsy with centrotemporal spike|benign Rolandic epilepsy|benign epilepsy of childhood with centrotemporal spikes (BECCT)|benign epilepsy with centro-temporal spikes (BECTS)|centrotemporal epilepsy|temporal-central focal epilepsy|rolandic epilepsy|benign childhood epilepsy with centrotemporal spikes|benign rolandic epilepsy (BRE)											DOID:3329|SCTID:44145005|UMLS:C0376532|OMIM:117100|UMLS:C2363129|NCIT:C116538|GARD:0010287|ICD10:G40.0|Orphanet:1945|UMLS:CN200685|ICD9:345.80														https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre				owl:Class
MONDO:0008972	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 1	A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.	mondoexuq1wtf	RCDP1|Pbd9|chondrodystrophia calcificans punctata|rhizomelic chondrodysplasia punctata, type 1|chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|PEX7 rhizomelic chondrodysplasia punctata|Rcdp1|peroxisome biogenesis disorder 9|rhizomelic chondrodysplasia punctata type 1											ICD10:Q77.3|UMLS:C1859133|DOID:0110851|Orphanet:309789|OMIM:215100|GARD:0006049														https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1				owl:Class
MONDO:0011815	biolink:NamedThing	hypertension, essential, susceptibility to, 3		mondoexuq1wtf	Hyt3|hypertension, essential, susceptibility to, type 3|hypertension, essential, susceptibility to, 3											OMIM:607329|UMLS:C1846430																		owl:Class
MONDO:0004257	biolink:NamedThing	childhood central nervous system mixed germ cell tumor	A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	childhood mixed germ cell tumor of central nervous system|Central nervous system Mixed germ cell tumor|mixed germ cell tumor of central nervous system of childhood|pediatric mixed germ cell tumor of central nervous system											NCIT:C27403|DOID:7516|UMLS:C1332956																		owl:Class
MONDO:0010792	biolink:NamedThing	lethal infantile mitochondrial myopathy	Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	mondoexuq1wtf	LIMM|LIMD|mitochondrial myopathy, lethal, infantile|lethal infantile mitochondrial disease											ICD10:G71.3|OMIM:551000|UMLS:C1838876|SCTID:766251006|Orphanet:254857|MESH:C564017																		owl:Class
MONDO:0017024	biolink:NamedThing	secondary interstitial lung disease specific to childhood associated with a metabolic disease		mondoexuq1wtf	secondary ILD specific to childhood associated with a metabolic disease											UMLS:CN202337|Orphanet:264719																		owl:Class
MONDO:0008577	biolink:NamedThing	toe, misshapen		mondoexuq1wtf	toe, misshapen											OMIM:189100																		owl:Class
MONDO:0017719	biolink:NamedThing	gangliosidosis	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	mondoexuq1wtf												UMLS:C0017083|SCTID:50967008|GARD:0012510|Orphanet:309144|ICD10:E75.10|DOID:2368|ICD10:E75.0|ICD10:E75.1																		owl:Class
MONDO:0011260	biolink:NamedThing	pancreatic lymphoma, familial	An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary pancreas lymphoma|pancreatic lymphoma, familial											OMIM:602596|MESH:C566516|UMLS:C1865139																		owl:Class
MONDO:0002081	biolink:NamedThing	musculoskeletal system disease	A disease involving the musculoskeletal system.	mondoexuq1wtf	musculoskeletal system disease|musculoskeletal system disorder|disease or disorder of musculoskeletal system|musculoskeletal disease|disease of musculoskeletal system|disorder of musculoskeletal system|musculoskeletal disorder|musculoskeletal system disease or disorder											ICD9:729.99|DOID:17|MESH:D009140|UMLS:C0026857|NCIT:C107377|SCTID:928000																		owl:Class
MONDO:0000452	biolink:NamedThing	progressive relapsing multiple sclerosis	A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.	mondoexuq1wtf	progressive-relapsing MS|PRMS											DOID:0050785|SCTID:230374002|UMLS:C0393666																		owl:Class
MONDO:0015738	biolink:NamedThing	childhood-onset nemaline myopathy	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.	mondoexuq1wtf	mild nemaline myopathy											GARD:0007171|Orphanet:171439|ICD10:G71.2														https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy				owl:Class
MONDO:0001104	biolink:NamedThing	toxic diffuse goiter		mondoexuq1wtf												DOID:10719|ICD9:242.00|SCTID:267374005|COHD:138717																		owl:Class
MONDO:0020744	biolink:NamedThing	Mobitz type I atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)	mondoexuq1wtf	type 1 second degree atrioventricular block|type 1 2nd degree AV block|second degree atrioventricular block Mobitz type I|Mobitz I|AV block second degree Möbitz type I|Mobitz type I second degree AV block|Möbitz type I second degree AV block|Wenckebach block|Möbitz I|type 1 second degree AV block|Mobitz type I|AV block second degree Mobitz type I|second degree atrioventricular block Möbitz type I											NCIT:C62017																		owl:Class
MONDO:0000467	biolink:NamedThing	second-degree atrioventricular block	Intermittent failure of atrial electrical impulse conduction to the ventricles.	mondoexuq1wtf	second degree atrioventricular block|AV block second degree|atrioventricular block, second degree|second degree AV block|atrioventricular block second degree|second-degree heart block											SCTID:195042002|UMLS:C1621824|COHD:318448|DOID:0050822|UMLS:C0264906|ICD9:426.13|NCIT:C111119																		owl:Class
MONDO:0060555	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 2		mondoexuq1wtf	congenital NAD deficiency disorder 2|kynureninase deficiency, complete|VCRL2|vertebral, cardiac, renal, and limb defects syndrome 2											UMLS:C4540014|OMIM:617661																		owl:Class
MONDO:0005990	biolink:NamedThing	tracheitis	An inflammatory process affecting the wall of the trachea.	mondoexuq1wtf	tracheal Inflammation|inflammation of tracheal mucosa|chronic tracheitis|tracheal mucosa inflammation|acute tracheitis										MONDO:0020691	NCIT:C78643|ICD10:J04.1|UMLS:C0264322|UMLS:C0149513|ICD9:464.1|MESH:D014136|UMLS:C0040584|SCTID:62994001|EFO:0007518|DOID:9392																		owl:Class
MONDO:0010307	biolink:NamedThing	intellectual disability, X-linked 73		mondoexuq1wtf	MRX73|intellectual disability, X-linked 73|mental retardation, X-linked 73											MESH:C564528|UMLS:C1845860|OMIM:300355																		owl:Class
MONDO:0000295	biolink:NamedThing	acanthocephaliasis	An disease or disorder caused by infection with Acanthocephala.	mondoexuq1wtf	disease caused by Acanthocephala|Acanthocephala infectious disease|infection by Acanthocephala|Acanthocephala caused disease or disorder|disease due to Acanthocephala|infection by thorny-headed worm|Acanthocephala disease or disorder											DOID:0050254|UMLS:C0277331|SCTID:105713003																		owl:Class
MONDO:0003067	biolink:NamedThing	cervical lymphadenitis	Inflammation of the cervical lymph nodes.	mondoexuq1wtf	lymphadenitis (disease) of neck|neck lymphadenitis (disease)|cervical adenitis											DOID:4637|NCIT:C26937|UMLS:C0149642|SCTID:3502005																		owl:Class
MONDO:0014000	biolink:NamedThing	congenital heart defects, multiple types, 2	Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.	mondoexuq1wtf	congenital heart malformation caused by mutation in TAB2|TAB2 congenital heart malformation|congenital heart defects, multiple types, 2|CHTD2											OMIM:614980|UMLS:C3554279																		owl:Class
MONDO:0015701	biolink:NamedThing	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.	mondoexuq1wtf	T-B+ SCID due to IL-7Ralpha deficiency|IL-7Ralpha deficiency|interleukin-7 receptor alpha deficiency|IL-7R										MONDO:0000575	DOID:0060015|Orphanet:169154|ICD10:D81.2																		owl:Class
MONDO:0005891	biolink:NamedThing	ostertagiasis	A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.	mondoexuq1wtf												MESH:D010029|DOID:3985|EFO:0007414|UMLS:C0029471																		owl:Class
MONDO:0000573	biolink:NamedThing	recombinase activating gene 2 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	mondoexuq1wtf												DOID:0060012																		owl:Class
MONDO:0021337	biolink:NamedThing	tonsil carcinoma	A carcinoma that involves the tonsil.	mondoexuq1wtf	tonsillar carcinoma|cancer of the tonsil|carcinoma of tonsil|tonsillar cancer|tonsil carcinoma|cancer of tonsil|carcinoma of the tonsil|tonsil cancer											NCIT:C4825|SCTID:274085008|UMLS:C0558355																		owl:Class
MONDO:0015465	biolink:NamedThing	craniometaphyseal dysplasia	Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.	mondoexuq1wtf												SCTID:36601008|ICD10:Q78.8|Orphanet:1522|ICD9:756.89|DOID:0080033|OMIMPS:123000																		owl:Class
MONDO:0024239	biolink:NamedThing	congenital anomaly of cardiovascular system	A disease that has its basis in the disruption of cardiovascular system development.	mondoexuq1wtf	congenital cardiovascular Abnormality|disorder of cardiovascular system development|cardiovascular system development disease|congenital cardiovascular disorder|congenital cardiovascular anomaly|congenital Abnormality of the circulatory system|congenital anomaly of cardiovascular system											ICD9:747.89|SCTID:9904008|NCIT:C35729|ICD9:747.9																		owl:Class
MONDO:0005392	biolink:NamedThing	scoliosis	A congenital or acquired spinal deformity characterized by lateral curvature of the spine.	mondoexuq1wtf												DOID:0060249|MESH:D012600|NCIT:C78603|ICD10:M41|ICD10:M41.9|SCTID:298382003|ICD9:737.43|EFO:0004273|HP:0002650																		owl:Class
MONDO:0017257	biolink:NamedThing	idiopathic posterior uveitis	Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.	mondoexuq1wtf												ICD10:H20.0|Orphanet:280917																		owl:Class
MONDO:0006268	biolink:NamedThing	liver diffuse large B-cell lymphoma	A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.	mondoexuq1wtf	hepatic diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma|primary hepatic diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver											NCIT:C96843|UMLS:C2184126|EFO:1000323																		owl:Class
MONDO:0007256	biolink:NamedThing	hepatocellular carcinoma	A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.	mondoexuq1wtf	hepatoblastoma caused by somatic mutation|hepatocellular adenocarcinoma|cancer, hepatocellular|hepatoblastoma|liver carcinoma|adult hepatoma|carcinoma of liver|liver cancer|liver cell carcinoma|carcinoma, hepatocellular, malignant|hepatocellular carcinoma|adult primary hepatocellular carcinoma|primary carcinoma of liver cells|carcinoma of liver cells|hepatoma|HCC|carcinoma of the liver cells|hepatocellular cancer|liver cell cancer (hepatocellular carcinoma)|primary carcinoma of the liver cells|liver and intrahepatic bile duct carcinoma											ICD10:C22.0|DOID:686|COHD:4001171|NCIT:C3099|DOID:684|Orphanet:88673|ICDO:8170/3|OMIM:114550|MedDRA:10049010|ONCOTREE:HCC|EFO:0000182|MESH:D006528																		owl:Class
MONDO:0016058	biolink:NamedThing	paroxysmal dystonia		mondoexuq1wtf												ICD9:333.99|SCTID:230310003|Orphanet:200037																		owl:Class
MONDO:0020065	biolink:NamedThing	combined dystonia	A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).	mondoexuq1wtf	dystonia-plus syndrome											Orphanet:98203|UMLS:CN206969|ICD10:G24.1																		owl:Class
MONDO:0012491	biolink:NamedThing	macroglobulinemia, Waldenstrom, 2		mondoexuq1wtf	WM2|macroglobulinemia, WALDENSTROM, susceptibility to, 2											OMIM:610430																		owl:Class
MONDO:0021533	biolink:NamedThing	intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	intestine carcinoid tumor|carcinoid tumor of the intestine|grade 1 neuroendocrine neoplasm of intestine|intestine NET G1|intestine neuroendocrine tumor, well differentiated, low grade|intestine carcinoid tumor (disease)|intestinal carcinoid tumor|intestinal NET G1|intestinal neuroendocrine tumor G1|intestine neuroendocrine neoplasm G1|carcinoid tumor of intestine											SCTID:276816003|NCIT:C4637																		owl:Class
MONDO:0005369	biolink:NamedThing	carcinoid tumor	A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.	mondoexuq1wtf	carcinoid|carcinoid tumor|neuroendocrine tumor G1|neuroendocrine neoplasm G1|carcinoid tumor (disease)|NET G1		carcinoid tumor (disease)			Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources						MESH:D002276|ICDO:8240/3|SCTID:443492008|HP:0100570|ICD9:209.60|NCIT:C2915|EFO:0004243|ICDO:8241/3|GARD:0009316																		owl:Class
MONDO:0002736	biolink:NamedThing	ampulla of vater mucinous adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.	mondoexuq1wtf	ampulla of Vater mucinous adenocarcinoma|hepatopancreatic ampulla mucinous adenocarcinoma											DOID:3693|NCIT:C27416|UMLS:C1332248																		owl:Class
MONDO:0008271	biolink:NamedThing	polydactyly of an index finger	Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.	mondoexuq1wtf	index finger polydactyly|PPD3|polydactyly, preaxial type 3|polydactyly, preaxial III|preaxial polydactyly type 3|polydactyly, preaxial 3											ICD10:Q69.0|MESH:C566784|Orphanet:93337|UMLS:C1868113|GARD:0002256|OMIM:174600|SCTID:723446006																		owl:Class
MONDO:0017425	biolink:NamedThing	preaxial polydactyly of fingers	Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.	mondoexuq1wtf	preaxial polydactyly of hand											DC:0000362|OMIMPS:174400|GARD:0012767|ICD10:Q69.1|Orphanet:294939														https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers				owl:Class
MONDO:0003528	biolink:NamedThing	Volkmann contracture	An ischemic contracture of the forearm that most often occurs secondary to trauma.	mondoexuq1wtf	Volkmann's ischemic contracture											SCTID:111247001|ICD9:958.6|NCIT:C35130|DOID:5587|MESH:D054061|UMLS:C0042951|ICD10:T79.6																		owl:Class
MONDO:0021520	biolink:NamedThing	benign neoplasm of floor of mouth	A benign neoplasm that involves the mouth floor.	mondoexuq1wtf	benign neoplasm of the floor of the mouth|benign floor of the mouth tumor|benign floor of mouth neoplasm|benign floor of mouth tumor|benign floor of the mouth neoplasm|mouth floor benign neoplasm|benign tumor of floor of mouth|benign tumor of the floor of the mouth											UMLS:C0153934|ICD9:210.3|ICD10:D10.2|NCIT:C3593|SCTID:92109005																		owl:Class
MONDO:0021109	biolink:NamedThing	inverted urothelial papilloma	An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.	mondoexuq1wtf	inverted papilloma of urinary tract|urinary tract inverted papilloma|inverted urothelial papilloma|IUP|urothelium inverted papilloma											ONCOTREE:IUP|NCIT:C6192|UMLS:C1334282																		owl:Class
MONDO:0013142	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 2B	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.	mondoexuq1wtf	RETREG1 hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory and autonomic, type IIB|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|hereditary sensory and autonomic neuropathy type IIB|HSAN2B|hereditary sensory and autonomic neuropathy type 2B											UMLS:C2751092|OMIM:613115|DOID:0070150																		owl:Class
MONDO:0019941	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 2	Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.	mondoexuq1wtf	Giaccai type acroosteolysis|HSAN2|hereditary sensory radicular neuropathy, recessive form|neurogenic acroosteolysis|autosomal recessive sensory radicular neuropathy|hereditary sensory and autonomic neuropathy type II|hereditary sensory neuropathy type 2											PMID:21089229|Orphanet:970|DOID:0070161|ICD10:G60.8|SCTID:398148000|GARD:3976|GARD:0003976																		owl:Class
MONDO:0022869	biolink:NamedThing	coronary arteries congenital malformation		mondoexuq1wtf												GARD:0001534														https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation				owl:Class
MONDO:0002535	biolink:NamedThing	verrucous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.	mondoexuq1wtf												DOID:3177|ICDO:8051/0|UMLS:C0334243|NCIT:C4101																		owl:Class
MONDO:0003313	biolink:NamedThing	endometrioid stromal sarcoma of the vagina	A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.	mondoexuq1wtf	endometrioid stromal sarcoma of the vagina|endometrioid stromal sarcoma of vagina|vagina endometrioid stromal sarcoma|vaginal endometrial stromal sarcoma											UMLS:C3642329|NCIT:C40270|DOID:5170																		owl:Class
MONDO:0040671	biolink:NamedThing	class V glucose-6-phosphate dehydrogenase deficiency		mondoexuq1wtf	G6PD class V variant anemia|glucose-6-phosphate dehydrogenase deficiency class V variant anemia					Editor note: TODO, see PMID:2633878						SCTID:80963002|UMLS:C0272060																		owl:Class
MONDO:0005775	biolink:NamedThing	G6PD deficiency	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.	mondoexuq1wtf	rare inborn error of glucose-6-phosphate dehydrogenase activity|glucosephosphate dehydrogenase deficiency|G-6-PD variant enzyme deficiency Anemia|deficiency of G-6PD|G6PD|glucose-6-phosphate dehydrogenase deficiency|inborn glucose-6-phosphate dehydrogenase activity disorder|inborn error of glucose-6-phosphate dehydrogenase activity|G6PD deficiency											SCTID:62403005|UMLS:C2939465|EFO:0007287|MESH:D005955|NCIT:C98933|DOID:2862																		owl:Class
MONDO:0018706	biolink:NamedThing	syndromic sensorineural deafness due to combined oxidative phosphorylation defect		mondoexuq1wtf	syndromic sensorineural hearing loss due to COXPD|syndromic sensorineural deafness due to COXPD											UMLS:CN242144|Orphanet:457223|ICD10:G31.8																		owl:Class
MONDO:0017954	biolink:NamedThing	pyogenic autoinflammatory syndrome		mondoexuq1wtf												UMLS:CN204100|Orphanet:324927																		owl:Class
MONDO:0008879	biolink:NamedThing	Bowen-Conradi syndrome	Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.	mondoexuq1wtf	Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome (formerly)|Bowen-Conradi syndrome|BWCNS|Bowen-Conradi Hutterite syndrome|Bowen Hutterite syndrome|Bowen syndrome, Hutterite type											ICD10:Q87.8|Orphanet:1270|MESH:C537081|ICD9:759.89|OMIM:211180|SCTID:711153001|GARD:0005950|UMLS:C1859405|DOID:0050684														https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome				owl:Class
MONDO:0013071	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.	mondoexuq1wtf	autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant|EDMD4											MESH:C567831|DOID:0070249|OMIM:612998|UMLS:C2751807																		owl:Class
MONDO:0020336	biolink:NamedThing	autosomal dominant Emery-Dreifuss muscular dystrophy	Autosomal dominant form of Emery-Dreifuss muscular dystrophy.	mondoexuq1wtf	Emery-Dreifuss muscular dystrophy, autosomal dominant|EDMD2											ICD10:G71.0|GARD:0002101|Orphanet:98853																		owl:Class
MONDO:0017776	biolink:NamedThing	nocardiosis	Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.	mondoexuq1wtf	lung nocardiosis|Nocardia infectious disease|Nocardia infection|Nocardia disease or disorder|Nocardia caused disease or disorder											ICD10:A43.9|ICD10:A43.8|MESH:D009617|SCTID:29227009|ICD10:A43.0|DOID:2312|EFO:0007397|GARD:0007210|MedDRA:10029444|Orphanet:31204|ICD10:A43|ICD10:A43.1														https://rarediseases.info.nih.gov/diseases/7210/nocardiosis				owl:Class
MONDO:0000316	biolink:NamedThing	opportunistic bacterial infectious disease		mondoexuq1wtf												DOID:0050340																		owl:Class
MONDO:0022057	biolink:NamedThing	calcifying epithelial odontogenic tumor	A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.	mondoexuq1wtf	calcifying epithelial odontogenic tumor|Pindborg tumor|CEOT											MESH:C537961|GARD:0006256|ICDO:9340/0|UMLS:C0334574|NCIT:C54301														https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor				owl:Class
MONDO:0010431	biolink:NamedThing	Joubert syndrome 10	Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.	mondoexuq1wtf	Joubert syndrome caused by mutation in OFD1|Joubert syndrome 10|Joubert syndrome type 10|JBTS10|OFD1 Joubert syndrome											UMLS:C2749019|OMIM:300804|DOID:0110981|MESH:C567582																		owl:Class
MONDO:0043775	biolink:NamedThing	respiratory paralysis	Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.	mondoexuq1wtf	muscle paralyses, respiratory|respiratory muscle paralysis|muscle paralysis, respiratory|paralysis, respiratory muscle|diaphragmatic paralysis|paralysis, diaphragmatic|paralysis of diaphragm|paralysis, respiratory											SCTID:64228003|MESH:D012133																		owl:Class
MONDO:0019563	biolink:NamedThing	CREST syndrome	CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.	mondoexuq1wtf	phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|CRST syndrome|syndrome, CREST|CRST syndromes|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|limited cutaneous Systemic sclerosis|calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome|lcSSc|limited cutaneous Systemic Scleroderma|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|calcinosis Raynaud phenomenon sclerodactyly telangiectasia											SCTID:31848007|ICD10:M34.1|MESH:D017675|MedDRA:10011380|GARD:0012430|COHD:4135937|Orphanet:90290|DOID:0060218|NCIT:C70646|UMLS:C0206138																		owl:Class
MONDO:0020642	biolink:NamedThing	polycystic kidney disease	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.	mondoexuq1wtf	polycystic kidney disease|PKD - polycystic kidney disease|fibrocystic renal disease											MESH:D007690|SCTID:82525005|NCIT:C75464|OMIMPS:173900|DOID:0080322														https://github.com/monarch-initiative/mondo/issues/3532				owl:Class
MONDO:0003495	biolink:NamedThing	ovarian squamous cell neoplasm	A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.	mondoexuq1wtf	ovarian squamous cell neoplasm|ovarian squamous cell tumor|ovary squamous cell neoplasm											NCIT:C40092|DOID:5532|UMLS:C1518739																		owl:Class
MONDO:0001385	biolink:NamedThing	cortical blindness	Visual impairment due to visual cortex dysfunction.	mondoexuq1wtf												SCTID:68574006|DOID:11831|UMLS:C0155320|COHD:253482|ICD9:377.75|MESH:D019575|NCIT:C118707|ICD10:H47.61																		owl:Class
MONDO:0003584	biolink:NamedThing	visual cortex disease	A disease involving the visual cortex.	mondoexuq1wtf	visual cortex disorder|disease of visual cortex|disorder of visual cortex|visual cortex dysfunction|visual cortex disease or disorder|disease or disorder of visual cortex|visual cortex disease											ICD9:377.7|DOID:5691|ICD10:H47.6|UMLS:C0234398|SCTID:128329001																		owl:Class
MONDO:0010491	biolink:NamedThing	X-linked acrogigantism due to Xq26 microduplication		mondoexuq1wtf	chromosome Xq26.3 DUPLICATION syndrome|chromosome Xq26 microduplication syndrome|familial infantile gigantism due to Xq26 microduplication|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|X-linked acrogigantism|familial infantile gigantism due to dup(X)q(26)											UMLS:C3891556|Orphanet:448372|UMLS:CN237731|SCTID:768472004|OMIM:300942|ICD10:E22.0																		owl:Class
MONDO:0016545	biolink:NamedThing	leukoencephalopathy-palmoplantar keratoderma syndrome	Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	mondoexuq1wtf	leukoencephalopathy palmoplantar keratoderma											GARD:0003232|UMLS:CN201627|Orphanet:2386														https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma				owl:Class
MONDO:0005304	biolink:NamedThing	biliary tract neoplasm	A neoplasm that involves the biliary tract.	mondoexuq1wtf	biliary tree neoplasm|biliary tract neoplasm|neoplasm of extrahepatic bile ducts|tumor of biliary tree|neoplasm of biliary tree|biliary tree neoplasm (disease)|biliary tract neoplasm (disease)|biliary tree tumor		biliary tract neoplasm (disease)									EFO:0003891|DOID:0050625|SCTID:126853008|HP:0100574|UMLS:C0345913|ONCOTREE:BILIARYTRACT																		owl:Class
MONDO:0019638	biolink:NamedThing	renal dysplasia	Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.	mondoexuq1wtf	renal dysplasia|renal dysplasia (disease)		renal dysplasia (disease)									Orphanet:93108|HP:0000110|ICD10:Q61.4|COHD:201111																		owl:Class
MONDO:0021038	biolink:NamedThing	Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.	mondoexuq1wtf	tumors of the Ewing's family|Ewing sarcoma family of tumors|Ewing sarcoma/peripheral PNET|tumors of Ewing's family|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing family of tumors|Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing's family of tumours|Ewing's family of tumors|EFTs											UMLS:C3536893|NCIT:C27291																		owl:Class
MONDO:0014924	biolink:NamedThing	epilepsy, familial focal, with variable foci 2	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.	mondoexuq1wtf	epilepsy, familial focal, with variable foci 2; FFEVF2|FFEVF2|epilepsy, familial focal, with variable foci 2|NPRL2 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci type 2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2											UMLS:C4310709|OMIM:617116																		owl:Class
MONDO:0020310	biolink:NamedThing	familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.	mondoexuq1wtf	familial partial epilepsy with variable foci|epilepsy, familial focal, with variable foci|FFEVF											UMLS:CN207131|OMIMPS:604364|GARD:0013295|MESH:C565785|Orphanet:98820|DC:0000729|SCTID:764522009																		owl:Class
MONDO:0025135	biolink:NamedThing	tuberculosis, avian	A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.	mondoexuq1wtf	Tuberculoses, Avian|Avian tuberculosis|Avian Tuberculoses											EFO:1001440|MESH:D014379|UMLS:C0041306																		owl:Class
MONDO:0013327	biolink:NamedThing	primary hyperoxaluria type 3	Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.	mondoexuq1wtf	hyperoxaluria, primary, type 3|primary hyperoxaluria caused by mutation in HOGA1|primary hyperoxaluria type III|PH III|hyperoxaluria, primary, type III|HP3|HOGA1 primary hyperoxaluria											UMLS:C3150878|SCTID:734990008|ICD10:E74.8|OMIM:613616|GARD:0010738|Orphanet:93600|NCIT:C123214|DOID:0111672														https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3				owl:Class
MONDO:0010196	biolink:NamedThing	Werner syndrome	Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.	mondoexuq1wtf	WRN|Werner's syndrome|WS|adult progeria|Werner syndrome|adult premature ageing syndrome											NCIT:C3447|OMIM:277700|Orphanet:902|MedDRA:10049429|MESH:D014898|DOID:5688|UMLS:C0043119|GARD:0007885|SCTID:51626007|ICD10:E34.8|ICD9:259.8																		owl:Class
MONDO:0008425	biolink:NamedThing	omphalocele syndrome, Shprintzen-Goldberg type	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	mondoexuq1wtf	pharynx and larynx hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome|omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|laryngeal and pharyngeal hypoplasia with omphalocele|Shprintzen omphalocele syndrome											MESH:C537329|UMLS:C1866958|ICD10:Q79.2|OMIM:182210|SCTID:716230005|Orphanet:3164|GARD:0009850																		owl:Class
MONDO:0004044	biolink:NamedThing	ureter urothelial papilloma	A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.	mondoexuq1wtf	ureter urothelial papilloma											NCIT:C6160|UMLS:C1519823|DOID:6936																		owl:Class
MONDO:0001398	biolink:NamedThing	ureter benign neoplasm	Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.	mondoexuq1wtf	benign ureter tumor|benign neoplasm of the ureter|benign ureteric neoplasm|ureter benign neoplasm|ureteral tumor|ureteral benign neoplasm|benign ureteral tumor|benign ureter neoplasm|benign tumor of ureter|benign tumor of the ureter|benign ureteral neoplasm|benign neoplasm of ureter											ICD9:223.2|COHD:198103|NCIT:C3617|SCTID:92464009|DOID:11885																		owl:Class
MONDO:0016710	biolink:NamedThing	medulloblastoma with extensive nodularity	Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.	mondoexuq1wtf	MBEN|cerebellar neuroblastoma|medulloblastoma with extensive nodularity|nodular medulloblastoma|medulloblastoma with extensive nodularity and advanced neuronal differentiation											ICD10:C71.6|ONCOTREE:MBEN|NCIT:C5407|UMLS:CN201957|UMLS:C1334970|ICDO:9471/3|Orphanet:251858																		owl:Class
MONDO:0013576	biolink:NamedThing	recurrent infections associated with rare immunoglobulin isotypes deficiency	Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.	mondoexuq1wtf	IMMUNOGLOBULIN kappa LIGHT chain deficiency|IGKCD|isolated IgG subclass deficiency|kappa-chain deficiency|kappa chain deficiency|selective IgG subclass deficiency|IgG subclass deficiency with IgA subclass deficiency											OMIM:614102|MESH:C564131|Orphanet:183675|UMLS:C3279824																		owl:Class
MONDO:0016043	biolink:NamedThing	isolated cleft lip	Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.	mondoexuq1wtf	isolated cleft lip (disease)|nonsyndromic cleft lip (disease)											ICD10:Q36.0|ICD10:Q36.9|MedDRA:10009259|Orphanet:199302|ICD10:Q36.1																		owl:Class
MONDO:0016034	biolink:NamedThing	cleft lip with or without cleft palate		mondoexuq1wtf	Tessier cleft number 1,2											ICD10:Q36.9|ICD10:Q37.2|ICD10:Q37.3|ICD10:Q37.5|ICD10:Q37.0|ICD10:Q36.1|ICD10:Q37.8|ICD10:Q37.4|ICD10:Q37.9|ICD10:Q37.1|Orphanet:1991|ICD10:Q36.0																		owl:Class
MONDO:0033636	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 4		mondoexuq1wtf	MC4DN4											OMIM:619048																		owl:Class
MONDO:0005850	biolink:NamedThing	milker's nodule	Virus diseases caused by the poxviridae.	mondoexuq1wtf	milkers' node|milker nodule|Pseudocowpox|Paravaccinia											ICD9:051.9|ICD10:B08.04|SCTID:27240009|DOID:8729|MESH:D011213|ICD9:051.1|EFO:0007370|UMLS:C0026143																		owl:Class
MONDO:0043723	biolink:NamedThing	Monteggia's fracture	Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.	mondoexuq1wtf	Monteggias fracture|monteggia fracture|monteggia fracture dislocation|Monteggia fracture|fracture, Monteggia's|monteggia's dislocation|monteggia's fracture											SCTID:123973009|EFO:1001373|MESH:D009011																		owl:Class
MONDO:0005322	biolink:NamedThing	ulna fracture	Fractures of the larger bone of the forearm.	mondoexuq1wtf	ulna bone fracture|bone fracture of ulna											COHD:4182555|SCTID:54556006|MESH:D014458|EFO:0003950																		owl:Class
MONDO:0010859	biolink:NamedThing	atrioventricular septal defect 3	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.	mondoexuq1wtf	atrioventricular septal defect caused by mutation in GJA1|atrioventricular septal defect 3|atrioventricular septal defect type 3|AVSD3|GJA1 atrioventricular septal defect											OMIM:600309|UMLS:C3275750																		owl:Class
MONDO:0020290	biolink:NamedThing	atrioventricular septal defect	A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.	mondoexuq1wtf	common atrioventricular canal|atrioventricular canal defect|AV septal defect|ECD|AVCD|endocardial cushion defect|AVSD|common AV canal|atrioventricular septal defect											ICD9:745.60|DOID:0050651|Orphanet:98722|ICD9:745.6|ICD9:745.69|GARD:0000802|NCIT:C101029|ICD10:Q21.2|SCTID:15459006|OMIMPS:606215																		owl:Class
MONDO:0018398	biolink:NamedThing	female infertility due to a congenital hypogonadotropic hypogonadism		mondoexuq1wtf	rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism											Orphanet:399846|Orphanet:399839|ICD10:N97.0																		owl:Class
MONDO:0030973	biolink:NamedThing	immunodeficiency 77		mondoexuq1wtf	immunodeficiency 77|IMD77											OMIM:619223																		owl:Class
MONDO:0010955	biolink:NamedThing	ectodermal dysplasia with intellectual disability and syndactyly		mondoexuq1wtf	ectodermal dysplasia with intellectual disability and syndactyly|ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia intellectual disability syndactyly											OMIM:600906|UMLS:C1833169|GARD:0002052|MESH:C538018																		owl:Class
MONDO:0013776	biolink:NamedThing	spastic ataxia 5	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	mondoexuq1wtf	AFG3L2-related spastic ataxia-neuropathy syndrome|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spastic ataxia 5, autosomal recessive|SPAX5|AFG3L2 autosomal recessive spastic ataxia|autosomal recessive spastic ataxia type 5|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spastic ataxia type 5											ICD10:G11.4|OMIM:614487|DOID:0050944|UMLS:C3280977|Orphanet:313772																		owl:Class
MONDO:0001590	biolink:NamedThing	quadriplegia	Paralysis of all four limbs.	mondoexuq1wtf	bilateral diplegia|tetraplegia											ICD10:G82.5|UMLS:C0034372|MESH:D011782|ICD10:G82.50|ICD9:344.09|COHD:374914|SCTID:11538006|DOID:12835|NCIT:C50721|ICD9:344.00																		owl:Class
MONDO:0006059	biolink:NamedThing	nasal cavity squamous cell carcinoma	A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.	mondoexuq1wtf	squamous cell carcinoma of the nasal cavity|squamous cell carcinoma of nasal cavity|nasal cavity squamous cell carcinoma											NCIT:C8192|EFO:1000057|UMLS:C0280333|DOID:5515																		owl:Class
MONDO:0043110	biolink:NamedThing	jones hersh yusk syndrome		mondoexuq1wtf	aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|ptosis, ectropion, thin skin, beaked nose|aplasia cutis cleft palate epidermolysis											MESH:C535885|UMLS:C2931054|GARD:0003055																		owl:Class
MONDO:0009800	biolink:NamedThing	Blount disease, adolescent		mondoexuq1wtf	Blount disease, adolescent|tibia vara, adolescent|Osteochondrosis deformans tibiae, adolescent											OMIM:259200|UMLS:C3151572																		owl:Class
MONDO:0017194	biolink:NamedThing	Blount disease	Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.	mondoexuq1wtf	Osteochondrosis deformans tibiae|familial infantile type osteochondrosis deformans tibiae|Osteochondrosis deformans tibiae, familial infantile type|tibia vara Blount|Blount's disease|infantile tibia vara|Erlacher-Blount syndrome|tibia vara|Blount disease|Blount-Barber syndrome											ICD10:M92.5|ICD9:736.89|MedDRA:10072255|DOID:14798|SCTID:79353000|GARD:0000916|Orphanet:2768|MESH:C536237|NCIT:C118460														https://rarediseases.info.nih.gov/diseases/916/blount-disease				owl:Class
MONDO:0000485	biolink:NamedThing	spasmodic dystonia	A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.	mondoexuq1wtf	laryngeal dystonia|spastic dysphonia|mixed spasmodic dysphonia (type)|adductor spasmodic dysphonia|abductor spasmodic dysphonia|spasmodic dysphonia|laryngeal dyskinesia											ICD9:478.79|SCTID:3331000119108|Orphanet:93961|MESH:D055154|DOID:0050844|GARD:0007668|UMLS:C1963946																		owl:Class
MONDO:0004382	biolink:NamedThing	laryngeal disease	A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.	mondoexuq1wtf	laryngeal disorder|disorder of the larynx|laryngeal disease|disorder of larynx|disease of larynx|larynx disease|disease or disorder of larynx|larynx disease or disorder											ICD10:S12.8|MESH:D007818|SCTID:60600009|UMLS:C0023051|NCIT:C26810|DOID:786|ICD9:478.70|ICD10:J38.7																		owl:Class
MONDO:0100344	biolink:NamedThing	Bartter disease type 1		mondoexuq1wtf	SLC12A1 Bartter syndrome|Bartter syndrome, furosemide type|hypokalemic alkalosis with hypercalciuria 1, antenatal|Bartter syndrome antenatal type 1|BARTS1|Bartter syndrome type 1 antenatal|Bartter syndrome, antenatal, type 1|Bartter syndrome, furosemide-amiloride type|Bartter syndrome caused by mutation in SLC12A1|hyperprostaglandin E syndrome|Bartter syndrome, type 1, antenatal|hypokalemic alkalosis with hypercalciuria 1 antenatal|hypokalemic alkalosis with hypercalciuria antenatal 1|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter disease type 1|antenatal Bartter syndrome|antenatal Bartter syndrome type 1|hyperprostaglandin E syndrome 1|Bartter syndrome type 1							http://orcid.org/0000-0001-5208-3432				GARD:0000830|DOID:0110142|ICD10:E26.8|OMIM:601678|MESH:C537652|SCTID:700107006																		owl:Class
MONDO:0007235	biolink:NamedThing	branchiooculofacial syndrome	Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.	mondoexuq1wtf	branchiooculofacial syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome|BOFS|branchio-oculo-facial syndrome|Bof syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging											GARD:0003212|DOID:0050691|SCTID:449821007|ICD9:759.89|OMIM:113620|ICD10:Q18.8|Orphanet:1297														https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome				owl:Class
MONDO:0010723	biolink:NamedThing	retinitis pigmentosa 2	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.	mondoexuq1wtf	RP2|retinitis pigmentosa 2|RP2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RP2|retinitis pigmentosa type 2											DOID:0110415|MESH:C567523|ICD10:H35.5|OMIM:312600|UMLS:C2681923																		owl:Class
MONDO:0020175	biolink:NamedThing	malignant tumor of palpebral epidermis	A cancer that involves the skin of eyelid.	mondoexuq1wtf	malignant skin of eyelid neoplasm|malignant neoplasm of skin of eyelid|cancer of skin of eyelid|skin of eyelid cancer											Orphanet:98584|SCTID:423425006|UMLS:CN207035																		owl:Class
MONDO:0100059	biolink:NamedThing	hypereosinophilia of undetermined significance	Long-lasting, unexplained and asymptomatic blood hypereosinophilia.	mondoexuq1wtf	benign eosinophilia|HEUS				2018-09-12 23:02:52+00:00																									owl:Class
MONDO:0014354	biolink:NamedThing	intellectual disability, autosomal recessive 43	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.	mondoexuq1wtf	MRT43|mental retardation, autosomal recessive type 43|intellectual disability, autosomal recessive type 43|WASHC4 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 43|mental retardation, autosomal recessive 43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4											UMLS:C4014386|OMIM:615817																		owl:Class
MONDO:0011227	biolink:NamedThing	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome		mondoexuq1wtf	short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities|SAMS|SAMS syndrome											SCTID:417081007|ICD10:Q87.1|UMLS:C1865361|OMIM:602471|MESH:C566544|Orphanet:397623																		owl:Class
MONDO:0002854	biolink:NamedThing	prostate sarcoma	A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.	mondoexuq1wtf	sarcoma of the prostate|prostate gland sarcoma|sarcoma of prostate|prostate sarcoma|sarcoma of prostate gland											NCIT:C7731|UMLS:C0238393|DOID:4054																		owl:Class
MONDO:0008315	biolink:NamedThing	prostate cancer	A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.	mondoexuq1wtf	malignant prostate tumor|prostate neoplasm|malignant prostate gland neoplasm|hereditary prostate cancer|tumor of the prostate|prostate gland cancer|malignant tumor of prostate|prostate cancer, familial|prostate cancer|malignant tumor of the prostate|cancer of prostate gland|malignant neoplasm of the prostate|prostatic cancer|prostatic neoplasm|malignant prostate neoplasm|malignant neoplasm of prostate gland|malignant neoplasm of prostate|NGP - new growth of prostate											MESH:D011471|ICD9:185|SCTID:399068003|NCIT:C7378|ICD10:C61|UMLS:C0376358|COHD:4163261|DOID:10283																		owl:Class
MONDO:0024619	biolink:NamedThing	central nervous system infectious disorder	An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.	mondoexuq1wtf	infectious disease of central nervous system|infections, central nervous system|central nervous system infectious disease|central nervous system infection|central nervous system infectious disorder											ICD9:349.89|NCIT:C27582|UMLS:C0007684|EFO:1001456|MESH:D002494|SCTID:128117002																		owl:Class
MONDO:0032783	biolink:NamedThing	aortic valve disease 3		mondoexuq1wtf	AORTIC VALVE DISEASE 3|AOVD3											OMIM:618496																		owl:Class
MONDO:0016447	biolink:NamedThing	white fibrous papulosis of the neck	White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	mondoexuq1wtf												Orphanet:228290|UMLS:CN226935																		owl:Class
MONDO:0011530	biolink:NamedThing	mesomelic dysplasia, Savarirayan type	Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.	mondoexuq1wtf	mesomelic dysplasia, Savarirayan type|triangular tibia and fibular aplasia|mesomelic dysplasia Savarirayan type|mesomelic dysplasia with absent fibulas and triangular tibias|triangular tibia-fibular aplasia syndrome											MESH:C565349|OMIM:605274|ICD10:Q78.8|SCTID:715652002|Orphanet:85170|UMLS:C1854470|GARD:0010584														https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type				owl:Class
MONDO:0006909	biolink:NamedThing	pituitary dwarfism	Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.	mondoexuq1wtf												MESH:D004393|MedDRA:10035083|SCTID:367460001|COHD:25780|UMLS:C0013338|ICD9:253.3|EFO:1001109																		owl:Class
MONDO:0012411	biolink:NamedThing	giant axonal neuropathy 2	Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.	mondoexuq1wtf	giant axonal neuropathy type 2|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|giant axonal neuropathy 2, autosomal dominant|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|CMT2 with giant axons|HMSN2 with giant axons|GAN2|DCAF8 giant axonal neuropathy|giant axonal neuropathy caused by mutation in DCAF8											UMLS:CN226146|ICD10:G60.0|DOID:0090069|Orphanet:401964|UMLS:C1864695|OMIM:610100|GARD:0012447																		owl:Class
MONDO:0005737	biolink:NamedThing	Ebola hemorrhagic fever	A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.	mondoexuq1wtf	Ebola virus disease|Ebolavirus infectious disease|Ebola|Ebola fever|Ebolavirus disease or disorder|EHF|Ebolavirus caused disease or disorder											ICD10:A98.4|NCIT:C36171|DOID:4325|EFO:0007243|GARD:0002035|SCTID:37109004|UMLS:C0282687|MESH:D019142|MedDRA:10014071|Orphanet:319218																		owl:Class
MONDO:0005762	biolink:NamedThing	Filoviridae infectious disease	Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.	mondoexuq1wtf	Filoviridae disease or disorder|Filoviridae caused disease or disorder											MESH:D018702|EFO:0007273|UMLS:C0242917																		owl:Class
MONDO:0014365	biolink:NamedThing	spermatogenic failure 13	Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.	mondoexuq1wtf	spermatogenic failure type 13|spermatogenic failure 13|SPGF13|azoospermia caused by mutation in TAF4B|TAF4B azoospermia											OMIM:615841|UMLS:C4014449|DOID:0070182																		owl:Class
MONDO:0009674	biolink:NamedThing	muscular dystrophy, adult-onset, with leukoencephalopathy		mondoexuq1wtf	muscular dystrophy, adult-onset, with leukoencephalopathy											UMLS:C1854646|OMIM:253590|MESH:C565361																		owl:Class
MONDO:0007608	biolink:NamedThing	desmoid tumor	A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	mondoexuq1wtf	desmoid tumor caused by somatic mutation|aggressive fibromatosis|deep fibromatosis|desmoid/aggressive fibromatosis|desmoid disorder, hereditary|desmoid tumor|desmoid disease, hereditary|desmoid type fibromatosis|desmoid-type fibromatosis|desmoid fibromatosis|fibromatosis, familial infiltrative|deep fibromatosis/desmoid tumor|FIF|familial infiltrative fibromatosis					Editor note: consider separate class for inherited disease						UMLS:CN072436|OMIM:135290|UMLS:C0079218|ICD10:D48.1|Orphanet:873|ONCOTREE:DES|GARD:0001820|DOID:0080366|ICDO:8821/1|UMLS:C1851124|NCIT:C9182																		owl:Class
MONDO:0032853	biolink:NamedThing	myopathy, distal, 6, adult-onset, autosomal dominant		mondoexuq1wtf	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT|MPD6											OMIM:618655																		owl:Class
MONDO:0008486	biolink:NamedThing	steatocystoma multiplex-natal teeth syndrome	The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.	mondoexuq1wtf	Natal teeth and steatocystoma multiplex|STEATOCYSTOMA multiplex with NATAL teeth											MESH:C537487|ICD10:L72.2|OMIM:184510|UMLS:C1866650|GARD:0005004|Orphanet:3184																		owl:Class
MONDO:0001052	biolink:NamedThing	chronic fungal otitis externa	Chronic form of otomycosis.	mondoexuq1wtf	chronic otomycosis|chronic mycotic otitis externa|otomycosis, chronic											UMLS:C0155396|COHD:373200|SCTID:111898002|ICD9:380.15|DOID:10519																		owl:Class
MONDO:0000262	biolink:NamedThing	otomycosis	Fungus infection of the external ear, usually by aspergillus species	mondoexuq1wtf	external ear fungal infectious disease|otitis mycotic externa|Singapore ear											UMLS:C0029895|ICD9:111.8|MESH:D059249|SCTID:53316003|DOID:0050147																		owl:Class
MONDO:0008793	biolink:NamedThing	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert		mondoexuq1wtf	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert|Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin											UMLS:C1859783|OMIM:206570|GARD:0008587|MESH:C536367														https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert				owl:Class
MONDO:0005099	biolink:NamedThing	subarachnoid hemorrhage	Intracranial hemorrhage into the subarachnoid space.	mondoexuq1wtf	subarachnoid hemorrhage (disease)|subarachnoid hemorrhage		subarachnoid hemorrhage (disease)									SCTID:21454007|UMLS:C0038525|MESH:D013345|COHD:432923|ICD9:430|EFO:0000713|HP:0002138																		owl:Class
MONDO:0006173	biolink:NamedThing	conjunctival squamous cell carcinoma	A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.	mondoexuq1wtf	conjunctiva squamous cell carcinoma|squamous cell carcinoma of conjunctiva|epidermoid carcinoma of conjunctiva|invasive squamous cell carcinoma of the conjunctiva|conjunctival squamous cell carcinoma|ocular surface squamous neoplasia|conjunctiva epidermoid carcinoma|conjunctival squamous cell cancer|conjunctival epidermoid carcinoma|squamous cell carcinoma of the conjunctiva|epidermoid carcinoma of the conjunctiva											DOID:1748|NCIT:C4549|UMLS:C0346359|SCTID:255003007|EFO:1000206																		owl:Class
MONDO:0003454	biolink:NamedThing	conjunctival cancer	A malignant neoplasm involving the conjunctiva.	mondoexuq1wtf	malignant neoplasm of the conjunctiva|malignant conjunctival neoplasm|malignant tumor of conjunctiva|malignant neoplasm of conjunctiva (primary)|malignant conjunctiva tumor|malignant tumor of the conjunctiva|conjunctival tumor|malignant conjunctival tumor|conjunctiva cancer|malignant conjunctiva neoplasm|cancer of conjunctiva|malignant neoplasm of conjunctiva											SCTID:363463000|ICD9:190.3|ICD10:C69.0|NCIT:C3564|DOID:5467|COHD:373151																		owl:Class
MONDO:0024316	biolink:NamedThing	physiological malfunction arising from mental factor	A dysfunction in biological function that is due to a psychological process.	mondoexuq1wtf	physiological malfunction arising from mental Factor											UMLS:C0154548|NCIT:C35186																		owl:Class
MONDO:0007871	biolink:NamedThing	familial congenital nasolacrimal duct obstruction		mondoexuq1wtf	lacrimal puncta, absence of|nasolacrimal duct obstruction|lacrimal duct defect|LCDD											MESH:C566703|OMIM:149700|Orphanet:451612|ICD10:Q10.5																		owl:Class
MONDO:0020195	biolink:NamedThing	excretory apparatus of the lacrimal system anomaly		mondoexuq1wtf												Orphanet:98605																		owl:Class
MONDO:0010999	biolink:NamedThing	fallot complex-intellectual disability-growth delay syndrome	Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.	mondoexuq1wtf	Bindewald-Ulmer-Müller syndrome|FALLOT complex with severe mental and growth retardation|Bindewald Ulmer Muller syndrome											GARD:0000893|UMLS:C1832735|MESH:C536608|ICD10:Q87.8|Orphanet:3304|OMIM:601127|SCTID:723336008																		owl:Class
MONDO:0018383	biolink:NamedThing	osteonecrosis of genetic origin	An instance of osteonecrosis that is caused by a modification of the individual's genome.	mondoexuq1wtf	bone necrosis of genetic origin|genetic osteonecrosis											ICD10:M93.9|Orphanet:399380																		owl:Class
MONDO:0003820	biolink:NamedThing	mature ovarian teratoma	An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	mondoexuq1wtf	mature teratoma|mature ovarian teratoma|mature teratoma of ovary|ovary mature teratoma|mature teratoma of the ovary											NCIT:C8112|UMLS:C1334637|DOID:6231|ONCOTREE:OMT																		owl:Class
MONDO:0003517	biolink:NamedThing	mature teratoma	A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	mondoexuq1wtf	mature teratoma											SCTID:254875009|ICDO:9080/0|NCIT:C9015|ONCOTREE:VMT|UMLS:C1368910|DOID:5566																		owl:Class
MONDO:0003029	biolink:NamedThing	skin angiosarcoma	A malignant vascular neoplasm arising from the skin.	mondoexuq1wtf	hemangiosarcoma of the skin|skin hemangiosarcoma|angiosarcoma of the skin|hemangiosarcoma of skin|angiosarcoma (disease) of zone of skin|skin angiosarcoma|angiosarcoma of skin|zone of skin angiosarcoma (disease)											DOID:4517|SCTID:254794007|UMLS:C0346081|NCIT:C4489																		owl:Class
MONDO:0021135	biolink:NamedThing	rare or common		mondoexuq1wtf																										https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0003050	biolink:NamedThing	lung large cell carcinoma	A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.	mondoexuq1wtf	large cell carcinoma of the lung|LCLC|large cell carcinoma of lung|lung large cell carcinoma|anaplastic lung carcinoma|large cell lung cancer|large cell lung carcinoma|large cell undifferentiated lung carcinoma										MONDO:0006024	DOID:4556|ICD9:162.9|EFO:1000016|SCTID:254629004|ONCOTREE:LCLC|NCIT:C4450|EFO:0003050|UMLS:C0345958																		owl:Class
MONDO:0005232	biolink:NamedThing	large cell carcinoma	A malignant epithelial neoplasm composed of large, atypical cells.	mondoexuq1wtf	carcinoma, large cell|large cell carcinoma											ICDO:8012/3|DOID:4552|MESH:D018287|UMLS:C0206704|NCIT:C3780																		owl:Class
MONDO:0009929	biolink:NamedThing	neonatal acute respiratory distress due to SP-B deficiency		mondoexuq1wtf	SMDP1|surfactant metabolism dysfunction, pulmonary, type 1|interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1|interstitial lung disease due to surfactant Protein B deficiency|pulmonary surfactant protein B, deficiency of|neonatal acute respiratory distress due to surfactant protein B deficiency|pulmonary alveolar proteinosis, congenital, 1											GARD:0004595|OMIM:265120|ICD10:P28.0|UMLS:C1968602|Orphanet:217563|MESH:C566882																		owl:Class
MONDO:0020574	biolink:NamedThing	central nervous system nongerminomatous germ cell tumor	Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.	mondoexuq1wtf	nongerminomatous germ cell tumor of the CNS|central nervous system nongerminomatous germ cell tumor|nongerminomatous GCT - CNS											UMLS:C1696109|NCIT:C100093																		owl:Class
MONDO:0006372	biolink:NamedThing	pituicytoma	An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.	mondoexuq1wtf	pituicytoma (WHO grade I)|pituicytoma|PTCY|posterior pituitary astrocytoma											ICD9:237.0|Orphanet:251623|ICDO:9432/1|SCTID:608817003|UMLS:C2986550|ONCOTREE:PTCY|EFO:1000477|ICD10:C71.9|NCIT:C94524																		owl:Class
MONDO:0003445	biolink:NamedThing	extrahepatic bile duct adenoma	An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.	mondoexuq1wtf	adenoma of extrahepatic bile duct|adenoma of the extrahepatic bile duct|extrahepatic bile duct adenoma											DOID:5438|NCIT:C5857|UMLS:C1331534																		owl:Class
MONDO:0021385	biolink:NamedThing	extrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.	mondoexuq1wtf	extrahepatic bile duct tumor|tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm|neoplasm of extrahepatic bile duct|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|neoplasm of the extrahepatic bile duct											SCTID:126855001|NCIT:C4441																		owl:Class
MONDO:0001192	biolink:NamedThing	esophageal melanoma	A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)	mondoexuq1wtf	esophagus melanoma (disease)|melanoma (disease) of esophagus|esophageal melanoma|esophagus melanoma|mucosal melanoma of the esophagus|melanoma of the esophagus|melanoma of esophagus											ONCOTREE:ESMM|NCIT:C5707|UMLS:C1333460|DOID:1108																		owl:Class
MONDO:0018955	biolink:NamedThing	recurrent respiratory papillomatosis	Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.	mondoexuq1wtf	AORRP (type)|adult-onset recurrent respiratory papillomatosis (type)|RRP|laryngeal papilloma, recurrent|recurrent respiratory papillomatosis|JORRP (type)|juvenile laryngeal papilloma|respiratory papillomatosis, recurrent|juvenile-onset recurrent respiratory papillomatosis (type)											MedDRA:10059314|ICD9:078.19|UMLS:C1168198|NCIT:C128637|GARD:0000111|MESH:C535297|SCTID:472827002|Orphanet:60032														https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis				owl:Class
MONDO:0021098	biolink:NamedThing	papillomatosis	Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.	mondoexuq1wtf	papillomatosis											NCIT:C3713																		owl:Class
MONDO:0008227	biolink:NamedThing	peripheral dysostosis		mondoexuq1wtf	peripheral dysostosis|dysostosis peripheral											UMLS:CN074256|OMIM:170700|GARD:0002015|Orphanet:1795|ICD10:Q74.8														https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral				owl:Class
MONDO:0011961	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 1B	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	mondoexuq1wtf	hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|HSAN1B|HSAN with cough and gastroesophageal reflux|hereditary sensory neuropathy type IB|hereditary sensory neuropathy type 1B|neuropathy, hereditary sensory, type 1B|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|neuropathy, hereditary sensory and autonomic, type 1B|hereditary sensory and autonomic neuropathy type IB											OMIM:608088|DOID:0070148|SCTID:717825008|Orphanet:139564|PMID:12870133|UMLS:C4303567|UMLS:C1842586|ICD10:G60.8|PMID:16311270|MESH:C564296																		owl:Class
MONDO:0014942	biolink:NamedThing	developmental and epileptic encephalopathy, 45	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 45; EIEE45|epileptic encephalopathy, early infantile, type 45|EIEE45|DEE45|epileptic encephalopathy, early infantile, 45|early infantile epileptic encephalopathy caused by mutation in GABRB1|GABRB1 early infantile epileptic encephalopathy											UMLS:C4310691|DOID:0080428|OMIM:617153																		owl:Class
MONDO:0019469	biolink:NamedThing	T-cell large granular lymphocyte leukemia	T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.	mondoexuq1wtf	proliferation of large granular lymphocytes|T-cell LGL leukemia|large granular lymphocytic leukemia|large granular lymphocytosis|T gamma lymphoproliferative disorder|TLGL|large cell granular lymphoid leukemia|T-cell large gran. lymph. leuk.|T-LGL|LGLL|Tgamma large granular lymphocyte leukemia|leukemia, large granular LYMPHOCYTIC, malignant|LGL leukemia|T-cell large granular lymphocytic leukemia|T-cell large granular lymphocyte leukemia|T-gamma lymphoproliferative disorder|large granular lymphocyte leukemia|large cell granular lymphogenous leukemia|T-LGL leukemia											UMLS:C1522378|Orphanet:86872|SCTID:277569004|MedDRA:10065862|ICDO:9831/1|ICDO:9831/3|GARD:0009812|ICD9:204.80|NCIT:C4664|DOID:0050751|ONCOTREE:TLGL|UMLS:C1955861|ICDO:9768/1																		owl:Class
MONDO:0005402	biolink:NamedThing	lymphoid leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.	mondoexuq1wtf	lymphoid leukemia|subacute lymphoid leukemia|leukemia, LYMPHOCYTIC, malignant|lymphoid leukemia (disease)|lymphogenous leukemia|lymphocytic leukemia		lymphoid leukemia (disease)									ICD9:204.2|DOID:10747|ICDO:981-983|UMLS:C0152271|EFO:0004289|HP:0005526|ICDO:9820/3|ICD9:204|UMLS:C0023448|NCIT:C7539|ICD9:204.20|SCTID:188726003|MESH:D007945																		owl:Class
MONDO:0043472	biolink:NamedThing	ectopic ACTH secretion syndrome	A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)	mondoexuq1wtf	ectopic ACTH secretion causing Cushing's syndrome|ACTH syndromes, ectopic|ectopic ACTH syndromes|syndrome, ectopic ACTH|ectopic ACTH secretion syndrome|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion|ectopic ACTH syndrome|syndromes, ectopic ACTH											SCTID:626004|MESH:D000182|UMLS:C0001231|NCIT:C4387																		owl:Class
MONDO:0021058	biolink:NamedThing	neoplastic syndrome	A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.	mondoexuq1wtf	tumor syndrome|neoplastic syndrome|cancer-related syndrome											NCIT:C54705																		owl:Class
MONDO:0009050	biolink:NamedThing	Cushing disease due to pituitary adenoma	Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.	mondoexuq1wtf	Cushing disease, pituitary|pituitary adenoma, ACTH-secreting|pituitary dependent Cushing syndrome|corticotroph pituitary adenoma|pituitary adenoma 4, ACTH-secreting|corticotroph adenoma|Cushing disease|pituitary-dependent Cushing syndrome|Cushing's disease|ACTH producing pituitary adenoma|Corticotropinoma|PITA4|ACTH-secreting pituitary adenoma|pituitary corticotroph micro-adenoma											ICD10:D35.2|ICD10:E24.0|DOID:7004|SCTID:254958004|OMIM:219090|Orphanet:96253|UMLS:C0221406|MESH:D049913|MedDRA:10035109|UMLS:C1306214|NCIT:C113210|GARD:0012867														https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma				owl:Class
MONDO:0007597	biolink:NamedThing	factor VIII and Factor IX, combined deficiency of		mondoexuq1wtf	F8F9D|factor VIII and Factor IX, combined deficiency of|factor VIII and factor IX, combined deficiency OF|familial multiple coagulation Factor deficiency 2|factor 8 and Factor IX, combined deficiency of											MESH:C565024|UMLS:C1851376|OMIM:134510																		owl:Class
MONDO:0010038	biolink:NamedThing	growth delay due to insulin-like growth factor I resistance	Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	mondoexuq1wtf	IGF1RES|Somatomedin, end-organ insensitivity to|Somatomedin end-organ insensitivity to|insulin-like growth factor I, resistance to|insulin-like growth factor 1 resistance to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|IGF-1 resistance|Somatomedin-C, resistance to|resistance to IGF-1|Somatomedin-c resistance to|IGF-I resistance											MESH:C564816|SCTID:715625007|Orphanet:73273|GARD:0010609|UMLS:C1849157|OMIM:270450|ICD10:E34.3														https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to				owl:Class
MONDO:0000491	biolink:NamedThing	limb ischemia	A ischemia that involves the limb.	mondoexuq1wtf	limb ischemia|ischemic disease of limb|limb ischemic disease											SCTID:21631000119105|UMLS:C2945695|DOID:0050852																		owl:Class
MONDO:0035362	biolink:NamedThing	TRIM22-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.	mondoexuq1wtf	TRIM22-related IBD											Orphanet:597201														https://github.com/monarch-initiative/mondo/issues/3540				owl:Class
MONDO:0100061	biolink:NamedThing	PRPS1 deficiency disorder	A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.	mondoexuq1wtf	PRPS1-related CMTX5/Arts syndrome/XLNSHL				2018-10-10 21:18:33+00:00	Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene.																								owl:Class
MONDO:0018480	biolink:NamedThing	carcinoma of esophagus, salivary gland type		mondoexuq1wtf	esophageal carcinoma, salivary gland type											ICD10:C15.2|ICD10:C15.5|ICD10:C15.4|ICD10:C15.0|ICD10:C15.1|UMLS:CN237468|ICD10:C15.3|Orphanet:418945|ICD10:C15.8																		owl:Class
MONDO:0019086	biolink:NamedThing	carcinoma of esophagus	Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).	mondoexuq1wtf	carcinoma of the esophagus|cancer of oesophagus|carcinoma of esophagus|esophagus carcinoma|cancer of esophagus|esophageal cancer, NOS|carcinoma of oesophagus|cancer of the esophagus|esophageal carcinoma|esophageal cancer											EFO:0002916|DOID:1107|SCTID:372138000|Orphanet:70482|NCIT:C3513|MedDRA:10030155|UMLS:C0152018																		owl:Class
MONDO:0024616	biolink:NamedThing	tympanitis	An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.	mondoexuq1wtf	tympanic membrane inflammation|myringitis|inflammation of tympanic membrane											UMLS:C0027134|SCTID:14852000																		owl:Class
MONDO:0005441	biolink:NamedThing	otitis media	Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.	mondoexuq1wtf	inflammation of middle ear|middle ear inflammation|otitis media (disease)|middle Ear Inflammation|otitis Media|medial otitis		otitis media (disease)									EFO:0004992|NCIT:C34885|UMLS:C0029882|COHD:372328|ICD10:H66.90|MESH:D010033|HP:0000388|SCTID:65363002|ICD10:H66.9|DOID:10754|ICD9:382.9																		owl:Class
MONDO:0014810	biolink:NamedThing	pancytopenia due to IKZF1 mutations	Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.	mondoexuq1wtf	immunodeficiency, common variable, 13|Cid due to IKAROS deficiency|CVID13|IKZF1 syndrome with combined immunodeficiency|combined immunodeficiency due to IKAROS deficiency|syndrome with combined immunodeficiency caused by mutation in IKZF1|immunodeficiency, common variable, type 13											UMLS:C4225173|OMIM:616873|ICD10:D81.8|Orphanet:317473																		owl:Class
MONDO:0005576	biolink:NamedThing	cryoglobulinemia	Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.	mondoexuq1wtf	Cryoimmunoglobulinaemia|cryoglobulinemia											SCTID:30911005|DOID:2917|UMLS:C0010403|COHD:4149583|GARD:0006217|ICD9:273.2|NCIT:C26736|MESH:D003449|ICD10:D89.1|EFO:0005846														https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia				owl:Class
MONDO:0002459	biolink:NamedThing	type IV hypersensitivity disease	A disease that has its basis in the disruption of type IV hypersensitivity.	mondoexuq1wtf	delayed hypersensitivity reaction|DTH|type 4 hypersensitivity reaction|delayed-type hypersensitivity|disorder of type IV hypersensitivity|type IV hypersensitivity reaction|immunoproliferative disease|delayed-type hypersensitivity response|type IV hypersensitivity|hypersensitivity reaction type IV disease					We make this equivalent with the UMLS concept for the reaction						UMLS:C0020522|NCIT:C3115|ICD10:C88.9|DOID:2916																		owl:Class
MONDO:0007999	biolink:NamedThing	holoprosencephaly 2	A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.	mondoexuq1wtf	holoprosencephaly caused by mutation in SIX3|holoprosencephaly 2|SIX3 holoprosencephaly|holoprosencephaly type 2|HPE2											OMIM:157170|UMLS:C1834877|MESH:C563579|DOID:0110872|NCIT:C74995																		owl:Class
MONDO:0009480	biolink:NamedThing	Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.	mondoexuq1wtf	Cerebellooculorenal syndrome|JS type B|chorioretinal coloboma with cerebellar vermis aplasia|Joubert syndrome with oculorenal anomalies|Joubert syndrome with bilateral chorioretinal coloboma|cerebello-oculo-renal syndrome|cerebro-oculo-hepato-renal syndrome|Dekaban Arima syndrome|Dekaban-Arima syndrome|Joubert syndrome 5|cerebrooculohepatorenal syndrome|Arima syndrome|coloboma, chorioretinal, with cerebellar vermis aplasia|JS-OR|CORS|Joubert syndrome with oculorenal defect|Joubert syndrome with Senior-Loken syndrome											Orphanet:2318|ICD10:Q04.3|MESH:C537430|SCTID:721862000|GARD:0009455|UMLS:C1855675|OMIM:243910														https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies				owl:Class
MONDO:0018484	biolink:NamedThing	semicircular canal dehiscence syndrome	Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	mondoexuq1wtf	Minor's syndrome|third mobile window syndrome|canal dehiscence syndrome|superior canal syndrome|Minorbs syndrome|SCD syndrome|superior canal dehiscence|superior semicircular canal dehiscence syndrome|superior semicircular canal dehiscence											Orphanet:420402|SCTID:717799003|ICD10:H83.8|DOID:0080193|GARD:0010993																		owl:Class
MONDO:0009710	biolink:NamedThing	myotonia congenita	Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.	mondoexuq1wtf	Batten-Turner congenital myopathy|myopathy, congenital|myotonia congenita											SCTID:726051002|ICD9:359.22|ICD10:G71.12|DOID:2106|MedDRA:10028655|ICD10:G71.1|OMIM:255300|GARD:0012301|Orphanet:614|UMLS:C0027127|MedDRA:10043461|NCIT:C84912																		owl:Class
MONDO:0000088	biolink:NamedThing	precocious puberty	Unusually early sexual maturity.	mondoexuq1wtf	idiopathic sexual precocity|sexual precocity|familial precocious puberty|pubertas praecox											NCIT:C79704|ICD10:E30.1|MESH:D011629|ICD9:259.1|SCTID:400179000|Orphanet:95708|COHD:4267558|DC:0000367|UMLS:C0034013|MedDRA:10044701|HP:0000826|MedDRA:10058084|GARD:0007446|ICD10:E22.8														https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty				owl:Class
MONDO:0002259	biolink:NamedThing	gonadal disease	A non-neoplastic or neoplastic disorder that affects the testis or the ovary.	mondoexuq1wtf	gonadal disorder|disease of gonad|disorder of gonads|gonad disease|disorder of gonad|gonadal disorders|disease or disorder of gonad|gonad disease or disorder											DOID:2277|UMLS:C0018050|NCIT:C26786|MESH:D006058																		owl:Class
MONDO:0011702	biolink:NamedThing	dilated cardiomyopathy 1L	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.	mondoexuq1wtf	CMD1L|cardiomyopathy, dilated, 1L|familial isolated dilated cardiomyopathy caused by mutation in SGCD|SGCD familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1L|dilated cardiomyopathy type 1L											MESH:C564679|OMIM:606685|DOID:0110436|ICD10:I42.0|UMLS:C1847667																		owl:Class
MONDO:0001495	biolink:NamedThing	hematocele of tunica vaginalis testis	Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.	mondoexuq1wtf	hematocele|male hematocele											UMLS:C0018931|MESH:D006398|SCTID:66259004|DOID:12332|UMLS:C1456400																		owl:Class
MONDO:0021310	biolink:NamedThing	malignant tumor of neck	A cancer that involves the neck.	mondoexuq1wtf	cancer of neck|malignant tumor of the neck|malignant neoplasm of neck|cancer of the neck|malignant neoplasm of the neck|malignant neck tumor|neck cancer|malignant neck neoplasm											NCIT:C4940|UMLS:C0746787|SCTID:363489000																		owl:Class
MONDO:0005627	biolink:NamedThing	head and neck cancer	A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	mondoexuq1wtf	malignant head and neck neoplasm|head and neck neoplasm|head/neck neoplasm|cancer of head and neck|head and neck tumours|cancer of the head and neck|malignant tumor of the head and neck|malignant head and neck tumor|malignant neoplasm of craniocervical region|malignant neoplasm of the head and neck|malignant tumor of head and neck|malignant craniocervical region neoplasm|head and neck cancer|head and neck malignant neoplasia|craniocervical region cancer|cancer of craniocervical region|malignant neoplasm of head and neck											DOID:11934|UMLS:C0278996|NCIT:C4013|EFO:0006859																		owl:Class
MONDO:0015769	biolink:NamedThing	distal trisomy 6p	Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.	mondoexuq1wtf	distal duplication 6p|telomeric duplication 6p|trisomy 6pter|distal trisomy type 6p											UMLS:C4302551|Orphanet:1745|SCTID:722430008|ICD10:Q92.3																		owl:Class
MONDO:0016943	biolink:NamedThing	partial duplication of the short arm of chromosome 6	Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial trisomy of chromosome 6p|partial trisomy of the short arm of chromosome 6|chromosome 6p duplication|partial duplication of the short arm of chromosome type 6|partial duplication of chromosome 6p|trisomy 6p|partial trisomy 6p|6p duplication|6p trisomy|Duplication 6p											UMLS:CN036641|Orphanet:262740|MESH:C537811|GARD:0005352																		owl:Class
MONDO:0002399	biolink:NamedThing	tenosynovial giant cell tumor, localized type	A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.	mondoexuq1wtf	localized tenosynovial giant cell neoplasm|localized giant cell tumor of tendon sheath|localized giant cell tumor of Tenosynovium|benign synovioma|tenosynovial giant cell tumor, localized type|localized giant cell neoplasm of the Tenosynovium|localized giant cell neoplasm of tendon sheath|localized giant cell tumor of the Tenosynovium|synovioma, benign (morphologic abnormality)|nodular tenosynovitis|localized giant cell neoplasm of Tenosynovium|localized tenosynovial giant cell tumor|benign tumor of synovium											ICD9:727.02|SCTID:95413004|DOID:2701|COHD:436200|UMLS:C0588125|NCIT:C6532																		owl:Class
MONDO:0024715	biolink:NamedThing	benign synovial neoplasm	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.	mondoexuq1wtf	benign synovioma|benign neoplasm of the synovium|synovioma, benign|benign synovial tumor|benign synovium neoplasm|benign tumor of synovium|benign neoplasm of synovium|benign tumor of the synovium|synovium neoplasm, benign|benign synovial neoplasm											NCIT:C3829|UMLS:C0221289|ICDO:9040/0																		owl:Class
MONDO:0019262	biolink:NamedThing	juvenile neuronal ceroid lipofuscinosis	Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.	mondoexuq1wtf	JNCL|Spielmeyer-Vogt disease|juvenile NCL|juvenile neuronal ceroid lipofuscinosis|batten disease					Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs						Orphanet:79264|SCTID:61663001|DOID:0050756|ICD10:E75.4|MedDRA:10052073																		owl:Class
MONDO:0008504	biolink:NamedThing	supravalvular aortic stenosis	SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.	mondoexuq1wtf	supravalvular aortic stenosis (disease)|SVAS|aortic supravalvular stenosis|supra-valvular aortic stenosis|supravalvar aortic stenosis, Eisenberg type|supravalvular aortic stenosis		supravalvular aortic stenosis (disease)									HP:0004381|MedDRA:10042598|OMIM:185500|UMLS:C0003499|DOID:1929|Orphanet:3193|ICD10:Q25.3|GARD:0000743|SCTID:268185002																		owl:Class
MONDO:0014148	biolink:NamedThing	estrogen resistance syndrome	Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.	mondoexuq1wtf	estrogen resistance|ESTRR|estrogen insensitivity											OMIM:615363|EFO:0009042|SCTID:724555000|Orphanet:785|UMLS:C3809250																		owl:Class
MONDO:0007526	biolink:NamedThing	Ehlers-Danlos syndrome progeroid type	Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.	mondoexuq1wtf	proteodermatan sulfate, defective biosynthesis of|spondylodysplastic Ehlers-Danlos syndrome|EDS, progeroid type|B4GALT7-CDG|Pds, defective biosynthesis of|Ehlers-Danlos syndrome, progeroid type|defective biosynthesis of proteodermatan sulfate|galactosyltransferase I deficiency|dermatan sulfate proteoglycan|PDS|galactosyltransferase 1 deficiency|XGPT deficiency|Ehlers-Danlos syndrome, progeroid type (former)|EDSSPD1|Ehlers-Danlos syndrome with short stature and limb anomalies|Ehlers-Danlos syndrome, spondylodysplastic type, 1|xylosylprotein 4-beta-galactosyltransferase deficiency											SCTID:720861000|Orphanet:75496|MESH:C536201|ICD10:Q79.6|DOID:0050802|UMLS:C1869122|GARD:0009991																		owl:Class
MONDO:0000192	biolink:NamedThing	polyglucosan body myopathy		mondoexuq1wtf												UMLS:CN228160|DC:0000696|OMIMPS:615895																		owl:Class
MONDO:0002756	biolink:NamedThing	solitary plasmacytoma of chest wall	A solitary plasmacytoma that arises from the chest wall.	mondoexuq1wtf	solitary plasmacytoma of chest wall|chest wall plasmacytoma|solitary plasmacytoma of the chest wall|chest wall solitary plasmacytoma|plasmacytoma of chest wall											DOID:3723|NCIT:C6711|UMLS:C1332936																		owl:Class
MONDO:0015346	biolink:NamedThing	Jeavons syndrome	Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.	mondoexuq1wtf	epilepsy with eyelid myoclonias|eyelid myoclonia with and without absences|EMEA											UMLS:C4274731|UMLS:CN199399|SCTID:716278005|ICD10:G40.3|Orphanet:139431																		owl:Class
MONDO:0100150	biolink:NamedThing	RYR1-related myopathy		mondoexuq1wtf						A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.		http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0018257	biolink:NamedThing	familial syringomyelia	An instance of syringomyelia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary syringomyelia											ICD10:Q06.4|UMLS:CN204832|Orphanet:370034																		owl:Class
MONDO:0015264	biolink:NamedThing	cryptogenic organizing pneumonia	Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.	mondoexuq1wtf	COP|idiopathic BOOP|idiopathic bronchiolitis obliterans with organizing pneumonia|bronchiolitis obliterans organizing pneumonia|cryptogenic organizing pneumonitis|idiopathic bronchiolitis obliterans organizing pneumonia											ICD10:J84.1|ICD9:516.36|Orphanet:1302|NCIT:C62586|GARD:0001620|DOID:0050157|SCTID:719218000|COHD:4045260|ICD10:J84.116|EFO:1001300|MESH:D018549|UMLS:C0242770																		owl:Class
MONDO:0024315	biolink:NamedThing	parasitic endophthalmitis	Infection of the epicondyles by a parasite.	mondoexuq1wtf	parasitic endophthalmitis											UMLS:C0014238|SCTID:57100005|NCIT:C34587|ICD9:360.13																		owl:Class
MONDO:0016047	biolink:NamedThing	endophthalmitis	An infectious process affecting the internal structures of the eye.	mondoexuq1wtf												SCTID:1847009|Orphanet:199323|UMLS:C0014236|MedDRA:10014801|NCIT:C34586|ICD10:H44.0|DOID:4692|COHD:438411|ICD9:360.19|MESH:D009877|ICD10:H44.1																		owl:Class
MONDO:0013363	biolink:NamedThing	chromosome 2q31.1 duplication syndrome		mondoexuq1wtf	mesomelic dysplasia, 2Q31.1 Duplication-related|chromosome 2q31.1 duplication syndrome											UMLS:C3150940|DOID:0060458|OMIM:613681																		owl:Class
MONDO:0043878	biolink:NamedThing	hereditary optic atrophy	A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.	mondoexuq1wtf	hereditary optic atrophy|atrophy, hereditary optic|optic atrophy, hereditary|Atrophies, hereditary optic|hereditary optic Atrophies											UMLS:C0029125|NCIT:C34864|SCTID:26360005|OMIMPS:165500|MESH:D015418																		owl:Class
MONDO:0001084	biolink:NamedThing	primary optic atrophy		mondoexuq1wtf												COHD:380729|UMLS:C0155291|ICD9:377.11|SCTID:21098003|DOID:10627|ICD10:H47.21																		owl:Class
MONDO:0014876	biolink:NamedThing	intellectual disability, autosomal recessive 54	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.	mondoexuq1wtf	MRT54|intellectual disability, autosomal recessive 54|mental retardation, autosomal recessive 54|mental retardation, autosomal recessive type 54|autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|intellectual disability, autosomal recessive type 54|TNIK autosomal recessive non-syndromic intellectual disability											OMIM:617028|UMLS:C4310755																		owl:Class
MONDO:0020815	biolink:NamedThing	dentigerous cyst	Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.	mondoexuq1wtf	dentigerous odontogenic cyst|Dentigerous cyst|Cyst, Dentigerous|dentigerous cyst|Dentigerous Cyst|follicular cyst of jaw|dentigerous cyst of jaw|Dentigerous odontogenic cyst|Cysts, Dentigerous|Dentigerous Cysts|Dentigerous cyst of jaw											MESH:D003803|UMLS:C0011428|SCTID:9245008																		owl:Class
MONDO:0024663	biolink:NamedThing	primary skin meningioma		mondoexuq1wtf	primary skin meningioma|primary cutaneous meningioma|primary meningioma of the skin|primary meningioma of skin											NCIT:C5277																		owl:Class
MONDO:0003363	biolink:NamedThing	malignant dermis tumor	A malignant neoplasm involving the dermis.	mondoexuq1wtf	malignant tumor of dermis|malignant dermis neoplasm|malignant dermis tumor|dermis cancer|malignant neoplasm of the dermis|malignant dermal neoplasm|malignant neoplasm of dermis|malignant tumor of the dermis|cancer of dermis											NCIT:C4574|UMLS:C0346811|SCTID:255096006|DOID:5274																		owl:Class
MONDO:0032601	biolink:NamedThing	inflammatory bowel disease, immunodeficiency, and encephalopathy		mondoexuq1wtf	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY|IBDIMDE											Orphanet:565788|OMIM:618213																		owl:Class
MONDO:0009612	biolink:NamedThing	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.	mondoexuq1wtf	vitamin B12-unresponsive methylmalonic aciduria|methylmalonyl-CoA mutase deficiency|MCM deficiency|methylmalonic aciduria, mut(-) type|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria mut type|methylmalonic aciduria, mut type|vitamin B12-unresponsive methylmalonic acidemia|methylmalonyl-Coenzyme A mutase deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut(0) type											OMIM:251000|ICD10:E71.1|Orphanet:27|DOID:0060740|UMLS:C1855114|GARD:0003586|NCIT:C148366																		owl:Class
MONDO:0012621	biolink:NamedThing	deafness-infertility syndrome	Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.	mondoexuq1wtf	sensorineural deafness and male infertility|deafness, sensorineural, and Male infertility|deafness-infertility syndrome|chromosome 15Q15.3 deletion syndrome|dis											GARD:0011911|Orphanet:94064|ICD10:Q93.5|MESH:C567010|SCTID:700489002|ICD9:758.39|OMIM:611102														https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome				owl:Class
MONDO:0006693	biolink:NamedThing	cerebral arterial disease	Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.	mondoexuq1wtf												DOID:3527|UMLS:C0007774|MESH:D002539|EFO:1000859																		owl:Class
MONDO:0006808	biolink:NamedThing	intracranial arterial disease	Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.	mondoexuq1wtf												DOID:13089|UMLS:C0752138|MESH:D020765|EFO:1000990																		owl:Class
MONDO:0005806	biolink:NamedThing	hypopharynx cancer	A primary or metastatic malignant neoplasm that affects the hypopharynx.	mondoexuq1wtf	malignant neoplasm of hypopharynx|hypural pharynx cancer|malignant neoplasm of ill-defined sites within the lip and oral cavity|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of posterior wall of hypopharynx|malignant tumour of hypopharynx|malignant neoplasm of other specified sites of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|hypopharyngeal cancer|malignant neoplasm of the hypopharynx|malignant hypopharyngeal neoplasm|hypopharynx pharynx cancer|pharynx cancer of hypopharynx|malignant hypopharyngeal tumor|malignant tumor of hypopharynx|malignant tumor of the hypopharynx|malignant neoplasm of other specified hypopharyngeal site											GARD:0009334|MESH:D007012|DOID:8533|ICD10:C13.2|ICD10:C13.9|ICD9:148.3|SCTID:303012000|ICD9:148.9|ICD9:148|NCIT:C7190|EFO:0007321|ICD10:C13																		owl:Class
MONDO:0013927	biolink:NamedThing	peroxisome biogenesis disorder 3A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder 3A (Zellweger)|peroxisome biogenesis disorder, complementation group 3|PBD3A											MESH:C566633|OMIM:614859|UMLS:C3553929|DOID:0080478|NCIT:C155752														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100266	biolink:NamedThing	peroxisome biogenesis disorder due to PEX12 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.	mondoexuq1wtf	PEX12 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX12 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0010500	biolink:NamedThing	intellectual disability, X-linked, syndromic 33	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.	mondoexuq1wtf	X-linked syndromic intellectual disability caused by mutation in TAF1|TAF1 X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic type 33|MRXS33|intellectual disability, X-linked, syndromic 33|intellectual disability, X-linked, syndromic type 33|mental retardation, X-linked, syndromic 33											OMIM:300966|UMLS:C4225418																		owl:Class
MONDO:0018543	biolink:NamedThing	autosomal dominant hypocalcemia	Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.	mondoexuq1wtf	AD hypocalcemia|hypocalcemia|hypocalcemia, autosomal dominant											GARD:0002877|SCTID:711152006|ICD10:E20.8|OMIMPS:601198|UMLS:CN205077|DOID:0090109|Orphanet:428														https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant				owl:Class
MONDO:0009263	biolink:NamedThing	gapo syndrome	GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations	mondoexuq1wtf	gapo syndrome|Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|Growth retardation, alopecia, pseudoanodontia and optic atrophy											SCTID:721843003|GARD:0000400|ICD10:Q87.8|OMIM:230740|Orphanet:2067														https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome				owl:Class
MONDO:0019793	biolink:NamedThing	autosomal dominant cerebellar ataxia type III	Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.	mondoexuq1wtf	Pure cerebellar syndrome-mild pyramidal signs syndrome|ADCAIII|autosomal dominant cerebellar ataxia type III|ADCA3|autosomal dominant cerebellar ataxia type 3											UMLS:CN206746|ICD10:G11.8|Orphanet:94148																		owl:Class
MONDO:0022646	biolink:NamedThing	cardiofacial syndrome short limbs		mondoexuq1wtf												GARD:0001097														https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs				owl:Class
MONDO:0012873	biolink:NamedThing	Ehlers-Danlos syndrome, spondylocheirodysplastic type	Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.	mondoexuq1wtf	spondylocheirodysplasia, Ehlers-Danlos syndrome-like|EDSSPD3|Ehlers-Danlos syndrome, spondylodysplastic type, 3|SCD-EDS|EDS, spondylocheirodysplastic type											OMIM:612350|Orphanet:157965|ICD10:Q79.6|MESH:C567340|UMLS:C2676510																		owl:Class
MONDO:0000612	biolink:NamedThing	lymphatic system cancer	A malignant neoplasm involving the lymphatic part of lymphoid system	mondoexuq1wtf	lymphatic part of lymphoid system cancer|cancer of lymphatic part of lymphoid system|malignant lymphatic part of lymphoid system neoplasm|malignant neoplasm of lymphatic part of lymphoid system											DOID:0060073																		owl:Class
MONDO:0024379	biolink:NamedThing	circadian rhythm sleep disorder, irregular sleep wake type	A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.	mondoexuq1wtf	irregular sleep-wake disorder|irregular sleep-wake pattern|ISWD											ICD10:G47.23|SCTID:271793004|UMLS:C0393771|ICD9:327.33																		owl:Class
MONDO:0013369	biolink:NamedThing	hypertrophic cardiomyopathy 7	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	mondoexuq1wtf	hypertrophic cardiomyopathy type 7|cardiomyopathy, familial hypertrophic, 7|cardiomyopathy, familial hypertrophic 7|CMH7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial hypertrophic, type 7|TNNI3 hypertrophic cardiomyopathy											UMLS:C1860752|OMIM:613690|DOID:0110313																		owl:Class
MONDO:0006404	biolink:NamedThing	salivary gland large cell carcinoma	A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.	mondoexuq1wtf	large cell salivary gland carcinoma|large cell undifferentiated salivary gland carcinoma|saliva-secreting gland large cell carcinoma|salivary gland large cell carcinoma											UMLS:C2111671|NCIT:C35735|EFO:1000517																		owl:Class
MONDO:0013162	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2N	Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.	mondoexuq1wtf	MDDGC2|muscular dystrophy, limb-girdle, type 2N|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|POMT2 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|LGMD2N|limb-girdle muscular dystrophy type 2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|LGMD-POMT2 related											DOID:0110298|GARD:0012539|Orphanet:206559|UMLS:C3150418|ICD10:G71.0|OMIM:613158																		owl:Class
MONDO:0009977	biolink:NamedThing	Knobloch syndrome	Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.	mondoexuq1wtf	retinal detachment-occipital encephalocele syndrome|Kno|Knobloch-Layer syndrome|Knobloch syndrome type 1|KNOBLOCH syndrome 1|KNO1|retinal detachment and occipital encephalocele|myopia retinal detachment encephalocele											OMIM:267750|SCTID:703542000|GARD:0000380|UMLS:C1849409|ICD9:759.89|ICD10:Q15.8|Orphanet:1571|MESH:C537209														https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome				owl:Class
MONDO:0024280	biolink:NamedThing	polyarticular arthritis	An arthritis affecting five or more separate joints.	mondoexuq1wtf	polyarticular arthritis|polyarthritis											SCTID:416956002|NCIT:C26996																		owl:Class
MONDO:0007835	biolink:NamedThing	intussusception	Telescoping or invagination of a part of the intestine into an adjacent segment.	mondoexuq1wtf	intussusception (morphologic abnormality)|intussusception|invagination of intestine or colon|intussusception of intestine											ICD9:560.0|DOID:8446|SCTID:49723003|OMIM:147710|MESH:D007443|UMLS:C0021933|ICD10:K56.1																		owl:Class
MONDO:0016298	biolink:NamedThing	postlingual non-syndromic genetic deafness	Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.	mondoexuq1wtf	isolated postlingual genetic deafness											Orphanet:216452|SCTID:764097002																		owl:Class
MONDO:0017918	biolink:NamedThing	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.	mondoexuq1wtf	Curatolo Cilio Pessagno syndrome|familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome											GARD:0005560|Orphanet:3207|MESH:C536701|UMLS:C2931292														https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome				owl:Class
MONDO:0007574	biolink:NamedThing	spinocerebellar ataxia type 34	Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	mondoexuq1wtf	spinocerebellar ataxia 34|spinocerebellar ataxia type 34|spinocerebellar ataxia and erythrokeratodermia|Giroux Barbeau syndrome|SCA34|erythrokeratodermia - ataxia|erythrokeratodermia with ataxia											MESH:C535738|UMLS:C1851481|ICD10:G11.1|SCTID:719255000|OMIM:133190|DOID:0050981|GARD:0000059|Orphanet:1955																		owl:Class
MONDO:0019270	biolink:NamedThing	erythrokeratoderma		mondoexuq1wtf												ICD9:757.39|Orphanet:79355|SCTID:254215005|MedDRA:10015280																		owl:Class
MONDO:0019345	biolink:NamedThing	shigellosis	Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.	mondoexuq1wtf	Shigella boydii infectious disease|shigellosis|bacillary dysentery|Shigella dysentery|Shigella sonnei infectious disease|Shigella flexneri infectious disease|japanese dysentery|Shigella gastroenteritis|flexner's dysentery											ICD9:004.0|MedDRA:10017915|DOID:12385|GARD:0004818|ICD9:004.9|ICD9:004|ICD9:004.3|ICD10:A03.8|ICD9:004.1|COHD:201780|ICD10:A03|KEGG:05131|MedDRA:10054178|SCTID:36188001|Orphanet:810|MESH:D004405|ICD10:A03.3|EFO:0005585|ICD10:A03.1|ICD10:A03.9|ICD10:A03.2|ICD10:A03.0|ICD9:004.2														https://rarediseases.info.nih.gov/diseases/4818/shigellosis				owl:Class
MONDO:0024634	biolink:NamedThing	large intestine disease	A disease that involves the large intestine.	mondoexuq1wtf	disease of large intestine|disorder of large intestine|disease or disorder of large intestine|large intestine disease or disorder											UMLS:C0341321|SCTID:119523007																		owl:Class
MONDO:0045017	biolink:NamedThing	cholesterol biosynthetic process disease	A disease that has its basis in the disruption of cholesterol biosynthetic process.	mondoexuq1wtf	cholesterol synthesis disease|disorder of cholesterol biosynthetic process|disorder of cholesterol synthesis											SCTID:238036004|UMLS:C0342829																		owl:Class
MONDO:0002943	biolink:NamedThing	external ear basal cell carcinoma	A basal cell carcinoma that arises from the skin of the external ear.	mondoexuq1wtf	basal cell external ear carcinoma|external ear skin basal cell carcinoma|basal cell carcinoma of external ear|external Ear basal cell carcinoma|basal cell carcinoma of external Ear|basal cell carcinoma of the external ear|skin basal cell carcinoma of external ear|basal cell carcinoma of the external Ear											UMLS:C1333491|NCIT:C6082|DOID:4287																		owl:Class
MONDO:0009814	biolink:NamedThing	osteopenia-intellectual disability-sparse hair syndrome	Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	Kaler Garrity Stern syndrome|osteopenia and sparse hair|osteopenia intellectual disability sparse hair|osteopenia mental retardation sparse hair|Kaler-Garrity-Stern syndrome											SCTID:732954002|MESH:C537706|UMLS:C1850140|OMIM:259690|GARD:0000354|Orphanet:2324																		owl:Class
MONDO:0016717	biolink:NamedThing	choroid plexus neoplasm	An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.	mondoexuq1wtf	choroid plexus neoplasm|choroid plexus tumor|tumor of the choroid plexus|neoplasm of the choroid plexus|tumor of choroid plexus|neoplasm of choroid plexus					Editor note: see ticket on ncit tracker					MONDO:0021226	ONCOTREE:CPT|SCTID:254942002|NCIT:C3473|Orphanet:251896|UMLS:C0085138																		owl:Class
MONDO:0002365	biolink:NamedThing	kidney hemangiopericytoma	A hemangiopericytoma arising from the kidney.	mondoexuq1wtf	kidney hemangiopericytoma|renal hemangiopericytoma|hemangiopericytoma of kidney|kidney spindle cell tumor|hemangiopericytoma of the kidney											NCIT:C4527|DOID:262|UMLS:C0346256|SCTID:254923001																		owl:Class
MONDO:0014654	biolink:NamedThing	Ullrich congenital muscular dystrophy 2	Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.	mondoexuq1wtf	Ullrich congenital muscular dystrophy caused by mutation in COL12A1|Ullrich congenital muscular dystrophy 2|COL12A1 Ullrich congenital muscular dystrophy|UCMD2|Ullrich congenital muscular dystrophy type 2											OMIM:616470|UMLS:C4225314																		owl:Class
MONDO:0000355	biolink:NamedThing	Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.	mondoexuq1wtf	scleroatonic muscular dystrophy|Ullrich disease|congenital muscular dystrophy, Ullrich type|scleroatonic Ullrich disease|late onset scleroatonic familial myopathy (subtype)|Ullrich scleroatonic muscular dystrophy|UCMD											ICD10:G71.2|DOID:0050558|MESH:C537521|OMIMPS:254090|GARD:0004769|NCIT:C123438|SCTID:240062007|UMLS:C0410179|Orphanet:75840																		owl:Class
MONDO:0014233	biolink:NamedThing	early-onset Parkinson disease 20	Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.	mondoexuq1wtf	SYNJ1 Parkinson disease|PARK20|early-onset Parkinson disease type 20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset|Parkinson disease caused by mutation in SYNJ1											OMIM:615530|UMLS:C3809824|DOID:0060898																		owl:Class
MONDO:0012175	biolink:NamedThing	cataract 28	A cataract that has material basis in variation in the region 6p12-q12.	mondoexuq1wtf	cataract type 28|CTRCT28|age-related cortical cataract 1|cataract 28|ARCC1|cataract, age-related cortical, 1											DOID:0110244|UMLS:C1836942|MESH:C563812|OMIM:609026																		owl:Class
MONDO:0005129	biolink:NamedThing	cataract	Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	mondoexuq1wtf	cataract (disease)|opacity of the lens|cataract		cataract (disease)									SCTID:193570009|ICD9:366.9|OMIMPS:116200|ICD9:366.44|ICD10:H26|NCIT:C26713|EFO:0001059|MESH:D002386|ICD9:366|COHD:375545|ICD9:366.8|DOID:83|HP:0000518																		owl:Class
MONDO:0009455	biolink:NamedThing	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes		mondoexuq1wtf	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes											UMLS:C1855762|OMIM:242870|MESH:C565468																		owl:Class
MONDO:0002250	biolink:NamedThing	basilar artery insufficiency	A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.	mondoexuq1wtf	basilar artery syndrome											UMLS:C0004812|SCTID:64009001|COHD:374055|DOID:223|NCIT:C34413|ICD9:435.0																		owl:Class
MONDO:0001631	biolink:NamedThing	vertebral artery insufficiency	A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.	mondoexuq1wtf	vertebral artery syndrome											UMLS:C0042560|SCTID:34781003|ICD9:435.1|COHD:434656|DOID:13095|NCIT:C35123																		owl:Class
MONDO:0009691	biolink:NamedThing	mycosis fungoides	Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.	mondoexuq1wtf	granuloma fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites|mycosis fungoides NOS (morphologic abnormality)|Alibert-Bazin syndrome|classic mycosis fungoides|mycosis fungoides, Alibert-Bazin type|mycosis fungoides lymphoma|mycosis fungoides (morphologic abnormality)|mycosis fungoides|MF|mycosis fungoides of unspecified site|cutaneous T-cell lymphoma/mycosis fungoides|CTCL/ mycosis fungoides											EFO:1001051|ICD10:C84.00|Orphanet:2584|MedDRA:10028483|UMLS:C0026948|SCTID:118618005|NCIT:C3246|ICD10:C84.0|COHD:4040380|DOID:8691|GARD:0003863|ICDO:9700/3|ICD9:202.1|MESH:D009182|ONCOTREE:MYCF|OMIM:254400														https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides				owl:Class
MONDO:0015821	biolink:NamedThing	mycosis fungoides and variants	Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.	mondoexuq1wtf												Orphanet:178566|UMLS:CN226743|ICD10:C84.0																		owl:Class
MONDO:0020771	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		mondoexuq1wtf	SCAN											OMIMPS:607250																		owl:Class
MONDO:0019629	biolink:NamedThing	sclerocornea	A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.	mondoexuq1wtf	sclerocornea|sclerocornea (disease)|isolated congenital sclerocornea		sclerocornea (disease)									Orphanet:91490|DOID:0060252|HP:0000647|ICD10:Q13.3|MESH:C565209																		owl:Class
MONDO:0020219	biolink:NamedThing	corneogoniodysgenesis		mondoexuq1wtf												Orphanet:98635																		owl:Class
MONDO:0003424	biolink:NamedThing	oncocytic adenoma	A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.	mondoexuq1wtf	oncocytoma|follicular adenoma, oxyphilic cell|oncocytic adenoma|oxyphilic adenoma											NCIT:C3759|EFO:1001079|ICDO:8290/0|DOID:5389|UMLS:C1510502																		owl:Class
MONDO:0010795	biolink:NamedThing	oncocytic neoplasm	A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)	mondoexuq1wtf	oncocytoma, benign|oncocytoma|oncocytic tumor|oncocytic neoplasm											NCIT:C7072|UMLS:C1378050|OMIM:553000																		owl:Class
MONDO:0018561	biolink:NamedThing	precocious puberty in female	A precocious puberty that involves the female organism.	mondoexuq1wtf	female organism precocious puberty|precocious puberty of female organism											UMLS:C0271616|HP:0010465|Orphanet:435561																		owl:Class
MONDO:0015860	biolink:NamedThing	anomaly of puberty or/and menstrual cycle		mondoexuq1wtf												Orphanet:180208																		owl:Class
MONDO:0010722	biolink:NamedThing	X-linked retinal dysplasia		mondoexuq1wtf	retinal dysplasia, primary|PRD|retinal dysplasia X-linked											SCTID:715240000|GARD:0004680|UMLS:C4275241|Orphanet:1852|OMIM:312550|ICD10:Q14.1														https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked				owl:Class
MONDO:0020374	biolink:NamedThing	cerulean cataract	Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.	mondoexuq1wtf	cataract, congenital, cerulean type 1|blue-dot cataract|cataract, congenital, blue dot type 1											ICD9:743.39|GARD:0009508|MESH:C537955|SCTID:204138006|Orphanet:98989|ICD10:Q12.0																		owl:Class
MONDO:0012642	biolink:NamedThing	major affective disorder 4		mondoexuq1wtf	major affective disorder 4|bipolar affective disorder|MAJOR affective disorder 4|MAFD4											OMIM:611247|MESH:C567073																		owl:Class
MONDO:0009938	biolink:NamedThing	pulmonic stenosis		mondoexuq1wtf	pulmonic stenosis|pulmonary stenosis|pulmonic stenosis (disease)|valvular pulmonic stenosis		pulmonic stenosis (disease)									HP:0001642|OMIM:265500|GARD:0010071|UMLS:C1956257																		owl:Class
MONDO:0017580	biolink:NamedThing	11p15.4 microduplication syndrome	11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	mondoexuq1wtf	dup(11)p(15.4)|trisomy 11p15.4											ICD10:Q92.3|UMLS:CN203376|Orphanet:300305																		owl:Class
MONDO:0016784	biolink:NamedThing	gestational trophoblastic disease		mondoexuq1wtf						Grouping for hydatidiform mole and gestational trophoblastic neoplasm						ICD9:631|ONCOTREE:GTD|SCTID:416402001|Orphanet:254685																		owl:Class
MONDO:0001381	biolink:NamedThing	bladder lymphoma	A lymphoma that involves the urinary bladder.	mondoexuq1wtf	lymphoma of urinary bladder|lymphoma of bladder|lymphoma of the bladder|lymphoma of the urinary bladder|urinary bladder lymphoma|primary bladder lymphoma											UMLS:C1332561|DOID:11821|NCIT:C6164																		owl:Class
MONDO:0015925	biolink:NamedThing	interstitial lung disease	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.	mondoexuq1wtf	ILD|interstitial lung disease											ICD10:J84.9|EFO:0004244|DOID:3082|Orphanet:182095|COHD:4119786|MedDRA:10022611|MESH:D017563|GARD:0013336|UMLS:C0206062|SCTID:233703007																		owl:Class
MONDO:0007147	biolink:NamedThing	obstructive sleep apnea syndrome	Cessation of air flow during sleep due to upper airway obstruction.	mondoexuq1wtf	obstructive sleep apnea syndrome|Osa|syndrome, obstructive sleep apnea|sleep apnea hypopnea syndrome|sleep apnea/hypopnea syndrome|syndrome, upper airway resistance, sleep apnea|sleep apnea syndrome, obstructive|apnea, obstructive sleep|Apneas, obstructive sleep|OSAHS|syndrome, sleep apnea, obstructive|obstructive sleep apnea|obstructive sleep Apneas|sleep Apneas, obstructive|upper airway resistance sleep apnea syndrome											ICD9:327.23|ICD10:G47.33|MESH:D020181|ICD9:780.57|EFO:0003918|NCIT:C27168|SCTID:78275009|DOID:0050848|UMLS:C0520679|HP:0002870|OMIM:107650|ICD10:G47.30|ICD10:G47.3																		owl:Class
MONDO:0010225	biolink:NamedThing	Dent disease type 1	Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.	mondoexuq1wtf	urolithiasis, hypercalciuric, X-linked|nephrolithiasis type 1|Dent disease caused by mutation in CLCN5|DENT disease 1|Dent disease type 1|nephrolithiasis 2|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked											SCTID:717789008|Orphanet:93622|UMLS:C4305530|OMIM:300009|UMLS:CN206679|ICD10:N25.8																		owl:Class
MONDO:0015612	biolink:NamedThing	Dent disease	Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.	mondoexuq1wtf	low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|X-linked recessive hypophosphatemic rickets|X-linked recessive nephrolithiasis|Dent disease 2|Dent disease 1|renal Fanconi syndrome with nephrocalcinosis and renal stones|Dent's disease|Dent syndrome|X-linked recessive hypercalciuric hypophosphatemic rickets|Dents disease											UMLS:CN239269|MedDRA:10069199|GARD:0013105|Orphanet:1652|UMLS:C0878681|ICD10:N25.8|MESH:D057973|NCIT:C123260|OMIMPS:300009|DOID:0050699|SCTID:444645005																		owl:Class
MONDO:0014213	biolink:NamedThing	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome		mondoexuq1wtf	autosomal dominant intellectual disability 21|MRD21|autosomal dominant mental retardation 21|mental retardation, autosomal dominant type 21|intellectual disability, autosomal dominant type 21|intellectual disability, autosomal dominant 21|mental retardation, autosomal dominant 21|autosomal dominant non-syndromic intellectual disability 21											ICD10:Q87.8|OMIM:615502|UMLS:C3809686|DOID:0070051|Orphanet:363611																		owl:Class
MONDO:0015005	biolink:NamedThing	epilepsy, early-onset, vitamin B6-dependent		mondoexuq1wtf	epilepsy, early-onset, vitamin B6-dependent|epilepsy, early-onset, vitamin B6-dependent; EPVB6D|EPVB6D											OMIM:617290|UMLS:C4310632																		owl:Class
MONDO:0009945	biolink:NamedThing	pyridoxine-dependent epilepsy	Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).	mondoexuq1wtf	AASA dehydrogenase deficiency|pyridoxine dependency with seizures|pyridoxine-dependent epilepsy|EPD|vitamin B6-dependent seizures|Epd|antiquitin deficiency|pyridoxine dependency|epilepsy, pyridoxine-dependent											UMLS:C1849508|ICD10:G40.8|SCTID:734434007|GARD:0009298|UMLS:CN203406|MESH:C536254|Orphanet:3006														https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy				owl:Class
MONDO:0020081	biolink:NamedThing	macrophage or histiocytic tumor		mondoexuq1wtf												Orphanet:98288|UMLS:CN206983																		owl:Class
MONDO:0006247	biolink:NamedThing	histiocytic and dendritic cell neoplasm	Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)	mondoexuq1wtf	histiocytic and dendritic cell cancer|histiocytic and Dendritic cell neoplasms|histiocytic and dendritic cell tumor|histiocytic and dendritic cell|histiocytic and Dendritic cell tumors|histiocytic and dendritic cell neoplasm											Orphanet:98287|EFO:1000297|DOID:5621|UMLS:CN206982|UMLS:C1334030|NCIT:C9294																		owl:Class
MONDO:0016596	biolink:NamedThing	hyperphosphatasia-intellectual disability syndrome		mondoexuq1wtf	HPMR|hyperphosphatasia with intellectual disability syndrome|Mabry syndrome|hyperphosphatasia with mental retardation syndrome											UMLS:C1855923|Orphanet:247262|OMIMPS:239300|SCTID:33982008																		owl:Class
MONDO:0006955	biolink:NamedThing	rheumatic heart disease	An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.	mondoexuq1wtf	rheumatic carditis|disease, rheumatic heart|heart disease, rheumatic|RHD											ICD9:398.99|ICD10:I05.I09|SCTID:23685000|MedDRA:10062110|COHD:319825|NCIT:C34882|MESH:D012214|ICD9:398.90|DOID:0050827|EFO:1001161																		owl:Class
MONDO:0002619	biolink:NamedThing	bone fibrosarcoma	A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	fibrosarcoma of the bone|fibrosarcoma of bone|bone fibrosarcoma|bone tissue fibrosarcoma (disease)											UMLS:C2733623|DOID:3354|NCIT:C6604																		owl:Class
MONDO:0005164	biolink:NamedThing	fibrosarcoma	A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.	mondoexuq1wtf	fibrosarcoma - not infantile|fibrosarcoma (disease)|fibrous tissue neoplasm|fibrosarcoma (excluding infantile fibrosarcoma)|fibrosarcoma, malignant|fibrosarcoma|fibrocytic tumor|fibrosarcoma of soft tissue|malignant fibromatous neoplasm		fibrosarcoma (disease)									NCIT:C3043|ICDO:8810/3|ONCOTREE:FIBS|MedDRA:10016632|SCTID:443250000|GARD:0002327|DOID:3355|ICD10:C49.9|UMLS:C0016057|EFO:0002087|Orphanet:2030|HP:0100244|ICD9:171.9																		owl:Class
MONDO:0007742	biolink:NamedThing	5-hydroxytryptamine oxygenase regulator		mondoexuq1wtf	HTOR|5-hydroxytryptamine oxygenase regulator|5-HYDROXYTRYPTAMINE oxygenase regulator											OMIM:143460																		owl:Class
MONDO:0016002	biolink:NamedThing	Ehlers-Danlos syndrome, kyphoscoliotic type 1	Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.	mondoexuq1wtf	Ehlers-Danlos syndrome, type 6|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|Ehlers-Danlos syndrome, type VIA, formerly|EDS6|Ehlers-Danlos syndrome, type VIA|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, kyphoscoliosis type|kyphoscoliotic EDS|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome type 6 (formerly)|EDSKSCL1|kEDS|Ehlers-Danlos syndrome, ocular-scoliotic type|nevo syndrome|EDS, oculoscoliotic type|EDS VI|EDS6A, formerly|Ehlers-Danlos syndrome, kyphoscoliotic type|Ehlers-Danlos syndrome kyphoscoliotic type|EDS VIA|EDS 6|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|Ehlers-Danlos syndrome type 6A (formerly)|Ehlers-Danlos syndrome type 6A|EDS 6 (formerly)|Ehlers-Danlos syndrome, type VI|Ehlers-Danlos syndrome oculoscoliotic type|Ehlers-Danlos syndrome, type Via|Ehlers-Danlos syndrome, type Via, formerly|kyphoscoliotic Ehlers-Danlos syndrome											NCIT:C125700|GARD:0002083|ICD10:Q79.6|UMLS:C0268342|MESH:C536198|UMLS:CN202461|Orphanet:1900|SCTID:718211004|OMIM:225400																		owl:Class
MONDO:0008867	biolink:NamedThing	biliary atresia	A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.	mondoexuq1wtf	isolated atresia of bile ducts|atresia of bile ducts|congenital biliary atresia|isolated biliary atresia|atresia of bile duct|biliary atresia, congenital|non-syndromic biliary atresia											Orphanet:30391|MedDRA:10003650|ICD10:Q44.2|DOID:13608|MESH:D001656|ICD9:751.61|UMLS:C0005411|GARD:0012010|SCTID:77480004|COHD:196796|NCIT:C34421														https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia				owl:Class
MONDO:0011023	biolink:NamedThing	hereditary mixed polyposis syndrome	Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.	mondoexuq1wtf	HMPS											ICD10:D12.6|UMLS:CN240759|DOID:0111684|MESH:C563365|Orphanet:157794																		owl:Class
MONDO:0001095	biolink:NamedThing	mediastinum neuroblastoma	A neuroblastoma arising from the mediastinum.	mondoexuq1wtf	neuroblastoma of mediastinum|neuroblastoma of the mediastinum|mediastinal neuroblastoma|mediastinum neuroblastoma											DOID:10660|NCIT:C6628|EFO:1000367|UMLS:C1334673																		owl:Class
MONDO:0001994	biolink:NamedThing	sphenoidal sinus cancer	A malignant neoplasm involving the sphenoidal sinus.	mondoexuq1wtf	malignant tumor of the sphenoid sinus|malignant sphenoidal sinus tumor|malignant tumor of the sphenoidal sinus|sphenoidal sinus cancer|malignant neoplasm of the sphenoidal sinus|malignant sphenoid sinus tumor|malignant sphenoid sinus neoplasm|cancer of sphenoidal sinus|malignant sphenoidal sinus neoplasm|malignant tumor of sphenoidal sinus|malignant tumor of sphenoid sinus|malignant neoplasm of sphenoid sinus|malignant neoplasm of the sphenoid sinus|malignant neoplasm of sphenoidal sinus											ICD10:C31.3|ICD9:160.5|DOID:14546|SCTID:363428005|NCIT:C3543|UMLS:C0153479																		owl:Class
MONDO:0002401	biolink:NamedThing	malignant tenosynovial giant cell tumor	An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.	mondoexuq1wtf	malignant giant cell neoplasm of the tendon sheath|malignant tendon sheath giant cell tumor|tenosynovial giant cell tumor, malignant|giant cell tumour of tendon sheath, malignant|malignant giant cell tumor of tendon sheath|malignant tendon sheath giant cell neoplasm|malignant giant cell tumor of the tendon sheath|malignant tenosynovial giant cell tumor|malignant giant cell neoplasm of tendon sheath											ICDO:9252/3|DOID:2704|UMLS:C1266168|NCIT:C6535																		owl:Class
MONDO:0017479	biolink:NamedThing	amelia of upper limb, bilateral		mondoexuq1wtf												ICD10:Q71.0|Orphanet:295055																		owl:Class
MONDO:0017437	biolink:NamedThing	amelia of upper limb	A non-syndromic amelia that involves the forelimb.	mondoexuq1wtf	non-syndromic amelia of forelimb|forelimb non-syndromic amelia											ICD10:Q71.0|SCTID:205306000|HP:0009812|Orphanet:294967																		owl:Class
MONDO:0018418	biolink:NamedThing	autosomal recessive spastic paraplegia type 66		mondoexuq1wtf	SPG66											Orphanet:401815|ICD10:G11.4|UMLS:CN226125																		owl:Class
MONDO:0017356	biolink:NamedThing	inborn disorder of ornithine metabolism	An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process.	mondoexuq1wtf	inborn ornithine metabolic process disorder|disorder of ornithine metabolism|inborn error of ornithine metabolic process|rare inborn error of ornithine metabolic process											Orphanet:289869|UMLS:C0342690|ICD10:E72.4|SCTID:237928008																		owl:Class
MONDO:0003857	biolink:NamedThing	adult intracranial malignant hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.	mondoexuq1wtf	adult intracranial anaplastic hemangiopericytoma|malignant adult intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						UMLS:C4331858|NCIT:C9183|DOID:6333|UMLS:C1334558																		owl:Class
MONDO:0015998	biolink:NamedThing	isolated ectopia lentis	Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.	mondoexuq1wtf	ectopia lentis syndrome|familial ectopia lentis|nonsyndromic lens position anomaly|congenital ectopic lens|isolated lens position anomaly|IEL											Orphanet:1885|DOID:0111148|GARD:0012251|NCIT:C34566|MedDRA:10014145|SCTID:74969002|MESH:C536184|DC:0000511|ICD10:Q12.1|PMID:20141359														https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis				owl:Class
MONDO:0004840	biolink:NamedThing	non-congenital cyst of kidney		mondoexuq1wtf												ICD10:N28.1|SCTID:105999006|UMLS:C0268799|DOID:9621|ICD9:593.2																		owl:Class
MONDO:0016936	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 18		mondoexuq1wtf	partial trisomy/tetrasomy of chromosome type 18|partial duplication/triplication of chromosome 18											Orphanet:262682																		owl:Class
MONDO:0002924	biolink:NamedThing	smooth muscle cancer	A malignant neoplasm arising from smooth muscle.	mondoexuq1wtf	cancer of the smooth muscle|malignant neoplasm of smooth muscle|malignant tumor of the smooth muscle|malignant smooth muscle tumor|cancer of smooth muscle|malignant tumor of smooth muscle|smooth muscle cancer|malignant neoplasm of the smooth muscle|malignant smooth muscle neoplasm											NCIT:C6511|DOID:4230|UMLS:C1334620																		owl:Class
MONDO:0010060	biolink:NamedThing	infantile onset spinocerebellar ataxia	Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	mondoexuq1wtf	SCA8 (formerly)|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8|spinocerebellar ataxia, infantile-onset|mitochondrial DNA depletion syndrome type 7|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|OHAHA syndrome|Ohaha syndrome|spinocerebellar ataxia 8, formerly|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|mitochondrial DNA depletion syndrome 7|IOSCA|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|MTDPS7|spinocerebellar ataxia infantile with sensory neuropathy|spinocerebellar ataxia 8 (formerly)					Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5						MESH:C535523|OMIM:271245|DOID:0080126|SCTID:724227000|GARD:0004062|Orphanet:1186|ICD10:G11.1|UMLS:C1849096|DOID:0050556																		owl:Class
MONDO:0017647	biolink:NamedThing	postinfectious autoimmune disease with chorea		mondoexuq1wtf												UMLS:CN203539|Orphanet:306727																		owl:Class
MONDO:0100360	biolink:NamedThing	herpes simplex type 2 infectious disease	A disease caused by infection with herpes simplex type 2.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0003364	biolink:NamedThing	gallbladder leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the gallbladder|leiomyosarcoma of gallbladder|gall bladder leiomyosarcoma|leiomyosarcoma of gall bladder|gallbladder leiomyosarcoma											NCIT:C5841|DOID:5275|UMLS:C1333746																		owl:Class
MONDO:0006573	biolink:NamedThing	lipodystrophy	A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.	mondoexuq1wtf	lipodystrophy|lipodsystrophic syndromes|lipodystrophy (disease)|lipodsystrophic syndrome		lipodystrophy (disease)									DOID:811|COHD:134324|HP:0009125|UMLS:C0023787|ICD10:E88.1|EFO:1000727|Wikipedia:Lipodystrophy|SCTID:71325002|MESH:D008060|NCIT:C97093|ICD9:272.6																		owl:Class
MONDO:0009858	biolink:NamedThing	Pfeiffer-Palm-Teller syndrome	Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	mondoexuq1wtf	Pfeiffer-Palm-Teller syndrome|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|Pfeiffer Palm Teller syndrome|PPT syndrome|short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice											Orphanet:2871|GARD:0004305|ICD10:Q87.1|MESH:C537889|SCTID:726672000|UMLS:C1849929|OMIM:261560														https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome				owl:Class
MONDO:0009487	biolink:NamedThing	keratoconus and congenital hip dysplasia		mondoexuq1wtf	keratoconus and congenital hip dysplasia											OMIM:244510|UMLS:C1855647|MESH:C565456																		owl:Class
MONDO:0016935	biolink:NamedThing	partial duplication of chromosome 17		mondoexuq1wtf	partial duplication of chromosome type 17|partial trisomy of chromosome 17											Orphanet:262677|UMLS:C4518505|SCTID:726356000																		owl:Class
MONDO:0016393	biolink:NamedThing	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	mondoexuq1wtf	Bosma arhinia-microphthalmia syndrome|Bosma-Henkin-Christiansen syndrome											ICD10:Q87.8|UMLS:CN201299|Orphanet:2250																		owl:Class
MONDO:0043982	biolink:NamedThing	cubital tunnel syndrome	Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)	mondoexuq1wtf	syndromes, cubital tunnel|cubital tunnel syndrome|ulnar nerve entrapment, elbow|tunnel syndromes, cubital|ulnar nerve compression, cubital tunnel|cubital tunnel syndromes|syndrome, cubital tunnel|tunnel syndrome, cubital											MESH:D020430|SCTID:56177003|EFO:1001363																		owl:Class
MONDO:0012409	biolink:NamedThing	isolated microphthalmia 2	Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.	mondoexuq1wtf	isolated microphthalmia type 2|VSX2 isolated microphthalmia|microphthalmia, isolated type 2|microphthalmia, isolated 2|MCOP2|anophthalmia, clinical, isolated|isolated microphthalmia caused by mutation in VSX2											OMIM:610093|MESH:C566446|UMLS:C1864720|DOID:0060839|ICD10:Q11.0																		owl:Class
MONDO:0013032	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 8	Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.	mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, type 8|epilepsy, idiopathic generalized, susceptibility to, 8|susceptibility to idiopathic generalized epilepsy 8|EIG8|generalised epilepsy caused by mutation in CASR|CASR generalised epilepsy											OMIM:612899|DOID:0111322																		owl:Class
MONDO:0012269	biolink:NamedThing	chromosome 3q29 microdeletion syndrome	3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	mondoexuq1wtf	3q29 deletion|3q subtelomere deletion syndrome|3q29 deletion syndrome|3q29 microdeletion syndrome|monosomy 3qter|3qter deletion|chromosome 3q29 deletion syndrome|microdeletion 3Q29 syndrome|monosomy 3q29|Del(3)(q29)											UMLS:C2674949|ICD10:Q93.5|Orphanet:65286|DOID:0060419|SCTID:716456000|GARD:0011974|OMIM:609425|MESH:C567184																		owl:Class
MONDO:0016902	biolink:NamedThing	partial deletion of the long arm of chromosome 3		mondoexuq1wtf	partial monosomy of the long arm of chromosome 3|partial monosomy of chromosome 3q|partial deletion of chromosome 3q|partial deletion of the long arm of chromosome type 3											Orphanet:262019|ICD10:Q93.5																		owl:Class
MONDO:0020205	biolink:NamedThing	bulbar conjunctival dermoid or conjunctival dermolipoma		mondoexuq1wtf												Orphanet:98617																		owl:Class
MONDO:0021579	biolink:NamedThing	neoplasm of femur	A neoplasm (disease) that involves the femur.	mondoexuq1wtf	femur neoplasm (disease)|femur tumor|neoplasm of femur|femur neoplasm|tumor of femur											ICD9:239.2|SCTID:126583006																		owl:Class
MONDO:0003241	biolink:NamedThing	central nervous system hemangioma	A hemangioma arising from the brain and spinal cord.	mondoexuq1wtf	hemangioma of CNS|hemangioma of the central nervous system|central nervous system hemangioma|hemangioma of the CNS|hemangioma of central nervous system											DOID:501|UMLS:C1333957|NCIT:C7004																		owl:Class
MONDO:0000628	biolink:NamedThing	central nervous system organ benign neoplasm	A benign neoplasm that involves the central nervous system.	mondoexuq1wtf	central nervous system benign neoplasm											DOID:0060090																		owl:Class
MONDO:0011951	biolink:NamedThing	amyotrophic lateral sclerosis type 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.	mondoexuq1wtf	amyotrophic lateral sclerosis caused by mutation in FUS|ALS6|FUS amyotrophic lateral sclerosis|autosomal recessive amyotrophic lateral sclerosis 6|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia											GARD:0009874|DOID:0060198|OMIM:608030|MESH:C567699														https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6				owl:Class
MONDO:0008895	biolink:NamedThing	hereditary arterial and articular multiple calcification syndrome	Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.	mondoexuq1wtf	ACDC|arterial calcification due to CD73 deficiency|CALJA|arterial calcification and distal joint calcification|calcification of joints and arteries|arterial calcification due to deficiency of Cd73											MESH:C565891|GARD:0010762|Orphanet:289601|DOID:0111582|OMIM:211800|UMLS:C4305347|UMLS:C1859372|SCTID:718602007																		owl:Class
MONDO:0032939	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 63, with macrocephaly		mondoexuq1wtf	MRD63|Mental Retardation, Autosomal Dominant 63, With Macrocephaly|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY											OMIM:618825																		owl:Class
MONDO:0009452	biolink:NamedThing	Vici syndrome	A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	mondoexuq1wtf	immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|absent corpus callosum-cataract-immunodeficiency syndrome|Vici syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|corpus callosum agenesis-cataract-immunodeficiency syndrome|absent corpus callosum cataract immunodeficiency|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|Dionisi Vici Sabetta Gambarara syndrome|VICIS											NCIT:C138174|ICD10:Q87.8|DOID:0060356|SCTID:719824001|UMLS:C1855772|Orphanet:1493|MESH:C535566|OMIM:242840|GARD:0000448														https://rarediseases.info.nih.gov/diseases/448/vici-syndrome				owl:Class
MONDO:0002113	biolink:NamedThing	peritoneal carcinoma	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	mondoexuq1wtf	peritoneum carcinoma|carcinoma of peritoneum|primary peritoneal carcinoma											DOID:1791|SCTID:447781009																		owl:Class
MONDO:0001372	biolink:NamedThing	bladder neck cancer	A malignant neoplasm involving the neck of urinary bladder.	mondoexuq1wtf	cancer of neck of urinary bladder|neck of urinary bladder cancer|malignant neoplasm of urinary bladder neck|malignant tumor of bladder neck|malignant neck of urinary bladder neoplasm|malignant neoplasm of neck of urinary bladder											DOID:11809|ICD10:C67.5|SCTID:188244007|ICD9:188.5																		owl:Class
MONDO:0009650	biolink:NamedThing	mucolipidosis type II	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.	mondoexuq1wtf	inclusion cell disease|GNPTA|mucolipidosis II|I-cell disease|mucolipidosis 2|mucolipidosis 2 alpha/beta|I cell disease|N-acetylglucosamine 1-phosphotransferase deficiency|N-acetylglucosamine 1phosphotransferase deficiency|mucolipidosis II alpha/beta|ML disorder type 2|Leroy disease|mucolipidosis type II|mucolipidosis type II alpha/beta|ML 2 Alpha/Beta|ML 2											Orphanet:576|NCIT:C61270|SCTID:70199000|MESH:C538602|UMLS:C0020725|DOID:0080070|GARD:0006749|UMLS:C2673377|OMIM:252500|ICD10:E77.0																		owl:Class
MONDO:0019248	biolink:NamedThing	mucolipidosis	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.	mondoexuq1wtf												SCTID:70528007|Orphanet:79212|UMLS:C0026697|MESH:D009081|DC:0000289|NCIT:C61267|DOID:0080488																		owl:Class
MONDO:0013326	biolink:NamedThing	Senior-Loken syndrome 7	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	mondoexuq1wtf	Senior-Loken syndrome 7|SENIOR-Loken syndrome 7|SLSN7|Senior-Loken syndrome caused by mutation in SDCCAG8|Senior-Loken syndrome type 7|SDCCAG8 Senior-Loken syndrome											OMIM:613615|UMLS:C3150877																		owl:Class
MONDO:0003061	biolink:NamedThing	benign muscle neoplasm	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.	mondoexuq1wtf	myoma|benign muscle neoplasm|benign neoplasm of muscle|muscle tissue neoplasm|benign neoplasm of the muscle|myomatous tumor|muscle benign neoplasm|benign tumor of the muscle|benign tumor of muscle|muscle neoplasm|benign muscle tumor										MONDO:0002393	DOID:2691|NCIT:C4882|ICDO:8895/0|DOID:461|MESH:D009214|ICD10:D21																		owl:Class
MONDO:0021545	biolink:NamedThing	myomatous neoplasm	A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.	mondoexuq1wtf	neoplasm of the muscle|myomatous tumor|neoplasm, muscle tissue|myoblastoma|myoblastomas|muscle neoplasm|myomatous neoplasm|muscle tissue neoplasm|tumor of muscle|myofibroblastomas|neoplasm of muscle|tumor of the muscle|muscle tissue neoplasms|myofibroblastoma|muscle tumor											MESH:D009379|MESH:D019042|NCIT:C4063																		owl:Class
MONDO:0005874	biolink:NamedThing	neuroschistosomiasis	Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)	mondoexuq1wtf												UMLS:C0752191|MESH:D020818|EFO:0007394|DOID:13722																		owl:Class
MONDO:0060760	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		mondoexuq1wtf	IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities											OMIM:618089																		owl:Class
MONDO:0005132	biolink:NamedThing	cytomegalovirus infection	A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.	mondoexuq1wtf	Cytomegaloviral infection|CMV infection|HCMV infection											EFO:0001062|SCTID:28944009|MESH:D003586|UMLS:C0010823|ICD9:078.5|NCIT:C53649|COHD:440032																		owl:Class
MONDO:0000898	biolink:NamedThing	malignant hemangioma	A malignant form of hemangioma.	mondoexuq1wtf	hemangioma, malignant					Editor note: hemangiomas currently classified as benign. Consider obsoleting these						UMLS:C0474836|DOID:0080189																		owl:Class
MONDO:0011846	biolink:NamedThing	bulimia nervosa, susceptibility to, 1		mondoexuq1wtf	bulimia nervosa, susceptibility to|BULN|BN|bulimia nervosa, susceptibility to, 1|BULN1											UMLS:CN244558|OMIM:607499																		owl:Class
MONDO:0005452	biolink:NamedThing	bulimia nervosa	A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.	mondoexuq1wtf	hyperorexia nervosa|bulimia											MESH:D052018|COHD:438407|NCIT:C34440|EFO:0005204|DOID:12129|ICD9:307.51|ICD10:F50.2|SCTID:78004001																		owl:Class
MONDO:0002366	biolink:NamedThing	autonomic nervous system neoplasm	Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.	mondoexuq1wtf	autonomic nervous system tumor|autonomic nervous system neoplasm|neoplasm of autonomic nervous system|autonomic nervous system neoplasms|autonomic nervous system neoplasm (disease)|tumor of the autonomic nervous system|tumor of autonomic nervous system|neoplasm of the autonomic nervous system											UMLS:C1332356|NCIT:C5112|DOID:2621																		owl:Class
MONDO:0006130	biolink:NamedThing	central nervous system neoplasm	A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.	mondoexuq1wtf	brain/spinal cord tumor|tumor of the central nervous system|central nervous system neoplasm|central nervous system neoplasm (disease)|tumor of CNS|neoplasm of central nervous system|tumor of central nervous system|CNS tumor|central nervous system tumor|CNS neoplasm|tumor of the CNS|neoplasm of CNS|neoplasm of the central nervous system											EFO:1000158|NCIT:C9293																		owl:Class
MONDO:0014841	biolink:NamedThing	trichothiodystrophy 6, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.	mondoexuq1wtf	nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|trichothiodystrophy 6, nonphotosensitive|GTF2E2 nonphotosensitive trichothiodystrophy|trichothiodystrophy 6, nonphotosensitive; TTD6|TTD6											OMIM:616943|UMLS:C4310785																		owl:Class
MONDO:0060564	biolink:NamedThing	HELIX syndrome		mondoexuq1wtf	hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia|HELIX syndrome|HELIX|hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome											OMIM:617671|UMLS:C4522164|Orphanet:528105																		owl:Class
MONDO:0022812	biolink:NamedThing	complement receptor deficiency	A disorder with basis in disruption of a complement receptor.	mondoexuq1wtf	complement receptor deficiency											SCTID:234628004|ICD9:279.8|GARD:0009527|UMLS:C0398783														https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency				owl:Class
MONDO:0003832	biolink:NamedThing	complement deficiency	A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.	mondoexuq1wtf	complement activation disease|complement deficiency disease|complement deficiency|disorder of complement activation|immunodeficiency due to a complement cascade component deficiency											DOID:626|UMLS:C0272242|ICD10:D84.1|SCTID:24743004|NCIT:C4691|ICD10:D80-D89|Orphanet:459345|ICD9:279.8																		owl:Class
MONDO:0001887	biolink:NamedThing	Allen-Masters syndrome	A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.	mondoexuq1wtf	Broad ligament laceration syndrome|Masters-Allen syndrome											SCTID:69186005|UMLS:C0152079|ICD9:620.6|COHD:193523|DOID:14133																		owl:Class
MONDO:0010547	biolink:NamedThing	X-linked progressive cerebellar ataxia		mondoexuq1wtf	olivopontocerebellar atrophy, X-linked|spinocerebellar ataxia, X-linked 1|SCAX1|OPCA, X-linked|spinocerebellar ataxia, X-linked type 1											MESH:C563134|OMIM:302500|Orphanet:1175|ICD10:G11.1|UMLS:C0796205																		owl:Class
MONDO:0011569	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.	mondoexuq1wtf	autosomal recessive axonal CMT4C1|CMT 2B1|Charcot-Marie-Tooth neuropathy type 2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|Charcot Marie Tooth disease type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth neuropathy, type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|LMNA Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|AR-CMT2B1|CMT2B1											DOID:0110156|Orphanet:98856|UMLS:C1854154|GARD:0008548|ICD10:G60.0|MESH:C537990|OMIM:605588|SCTID:725048002														https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1				owl:Class
MONDO:0020601	biolink:NamedThing	mosquito-borne viral encephalitis	Viral encephalitis that is transmitted by mosquitos.	mondoexuq1wtf	mosquito-borne viral encephalitis											NCIT:C34823																		owl:Class
MONDO:0018305	biolink:NamedThing	chronic granulomatous disease	Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.	mondoexuq1wtf	congenital dysphagocytosis|granulomatous disease, chronic|chronic septic granulomatosis|Quie syndrome|CGD|Bridges-Good syndrome											MESH:D006105|GARD:0006100|NCIT:C26788|SCTID:387759001|Orphanet:379|MedDRA:10008906|OMIMPS:306400|UMLS:C0018203|ICD10:D71|DOID:3265														https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease				owl:Class
MONDO:0014528	biolink:NamedThing	chronic atrial and intestinal dysrhythmia	A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).	mondoexuq1wtf	chronic atrial dysrhythmia-intestinal motility disorder|chronic atrial intestinal dysrhythmia syndrome|caid syndrome|chronic atrial and intestinal dysrhythmia|chronic atrial and intestinal dysrhythmia syndrome|caid|Cohesinopathy affecting heart and gut rhythm											SCTID:720507006|ICD10:K59.8|GARD:0012281|OMIM:616201|DOID:0060339|UMLS:C4015474|Orphanet:435988																		owl:Class
MONDO:0003032	biolink:NamedThing	superior vena cava angiosarcoma	A malignant vascular neoplasm arising from the superior vena cava.	mondoexuq1wtf	angiosarcoma of Superior vena cava|angiosarcoma of the Superior vena cava|angiosarcoma (disease) of anterior vena cava|anterior vena cava angiosarcoma (disease)											UMLS:C1336530|DOID:4522|NCIT:C5378																		owl:Class
MONDO:0033816	biolink:NamedThing	thygeson superficial punctate keratopathy	An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.	mondoexuq1wtf												Orphanet:519406																		owl:Class
MONDO:0033361	biolink:NamedThing	developmental and epileptic encephalopathy, 52		mondoexuq1wtf	epileptic encephalopathy, early infantile, 52|EIEE52|DEE52											DOID:0080455|UMLS:C4479236|OMIM:617350																		owl:Class
MONDO:0014983	biolink:NamedThing	congenital myasthenic syndrome 21	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.	mondoexuq1wtf	congenital myasthenic syndrome type 21|SLC18A3 congenital myasthenic syndrome|CMS21|congenital myasthenic syndrome caused by mutation in SLC18A3|congenital myasthenic syndrome 21, presynaptic|myasthenic syndrome, congenital, 21, presynaptic											OMIM:617239|DOID:0110672|UMLS:C4310654																		owl:Class
MONDO:0020345	biolink:NamedThing	presynaptic congenital myasthenic syndrome		mondoexuq1wtf	presynaptic congenital myasthenic syndromes											ICD10:G70.2|Orphanet:98914																		owl:Class
MONDO:0018317	biolink:NamedThing	growth retardation-mild developmental delay-chronic hepatitis syndrome		mondoexuq1wtf												Orphanet:391366|UMLS:CN204964																		owl:Class
MONDO:0005210	biolink:NamedThing	uterine corpus sarcoma	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.	mondoexuq1wtf	sarcoma of corpus uteri|sarcoma of uterine corpus|sarcoma of the uterine corpus|uterine sarcoma/mesenchymal|corpus uteri sarcoma|sarcoma of uterus|sarcoma of the body of uterus|uterine sarcoma|uterine body sarcoma|sarcoma of the uterus|sarcoma of the uterine body|sarcoma of uterine body|uterus sarcoma|sarcoma of the corpus uteri|body of uterus sarcoma|sarcoma of body of uterus										MONDO:0021422	UMLS:C0338113|DOID:5165|EFO:0002914|SCTID:254877001|NCIT:C6339|Orphanet:213620|MedDRA:10039497|ONCOTREE:USARC|GARD:0009383|ICD10:C54.2														https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma				owl:Class
MONDO:0009536	biolink:NamedThing	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation		mondoexuq1wtf	lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N											MESH:C565431|OMIM:247450|UMLS:C1855474																		owl:Class
MONDO:0010248	biolink:NamedThing	X-linked spondyloepimetaphyseal dysplasia	X-linked form of spondyloepimetaphyseal dysplasia.	mondoexuq1wtf	SEMD, X-linked|SEMDX|SEMD X-linked|spondylo-epimetaphyseal dysplasia|spondyloepimetaphyseal dysplasia, X-linked|spondyloepimetaphyseal dysplasia X-linked											UMLS:C1848097|Orphanet:93349|MESH:C564714|OMIM:300106|GARD:0004979|ICD10:Q77.7														https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked				owl:Class
MONDO:0015109	biolink:NamedThing	congenital anomaly of the mitral subvalvular apparatus		mondoexuq1wtf												Orphanet:101932|ICD10:Q23.8																		owl:Class
MONDO:0019817	biolink:NamedThing	congenital mitral valve insufficiency and/or stenosis		mondoexuq1wtf												ICD10:Q23.3|Orphanet:95464|ICD10:Q23.2|ICD10:Q23																		owl:Class
MONDO:0005537	biolink:NamedThing	perianal Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the anal canal.	mondoexuq1wtf	perianal Crohn's disease											EFO:0005627|UMLS:C0341395|SCTID:235796008																		owl:Class
MONDO:0005011	biolink:NamedThing	Crohn disease	A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.	mondoexuq1wtf	Crohn's disease of large bowel|regional enteritis|granulomatous colitis|pediatric Crohn's disease|Crohn's disease of colon|Crohn's disease|Crohn disease											ICD9:555.1|COHD:201606|EFO:0000384|ICD10:K50.1|NCIT:C2965|DOID:8778|SCTID:7620006|UMLS:CN043071																		owl:Class
MONDO:0032912	biolink:NamedThing	Coffin-Siris syndrome 11		mondoexuq1wtf	COFFIN-SIRIS SYNDROME 11|CSS11											OMIM:618779																		owl:Class
MONDO:0010134	biolink:NamedThing	Pendred syndrome	Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.	mondoexuq1wtf	thyroid dyshormonogenesis 2B|PDS|congenital hypothyroidism due to dyshormonogenesis 2B|genetic defect in thyroid hormonogenesis 2B|deafness with goiter|hypothyroidism, congenital, due to dyshormonogenesis, 2B|goiter-deafness syndrome|Pendred syndrome|thyroid hormonogenesis, genetic defect in, 2B|autosomal recessive sensorineural hearing impairment and goiter|TDH2B											UMLS:C0271829|SCTID:70348004|NCIT:C121745|GARD:0004271|MESH:C536648|Orphanet:705|ICD10:E07.1|OMIM:274600|DOID:0060744																		owl:Class
MONDO:0009524	biolink:NamedThing	intellectual disability-spasticity-ectrodactyly syndrome	Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	mondoexuq1wtf	Jancar syndrome|ectrodactyly, spastic paraplegia and intellectual disability|intellectual disability, spasticity and transverse limb defects|limb defects, distal transverse, with mental retardation and spasticity|ectrodactyly, spastic paraplegia and mental retardation|intellectual disability spasticity ectrodactyly|limb defects, distal transverse, with intellectual disability and spasticity|mental retardation spasticity ectrodactyly|mental retardation, spasticity and transverse limb defects											UMLS:C0796001|OMIM:246555|Orphanet:1891|GARD:0003523|MESH:C537446|SCTID:763743003														https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly				owl:Class
MONDO:0007818	biolink:NamedThing	Hyper-IgE recurrent infection syndrome 1	A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.	mondoexuq1wtf	HIES, autosomal dominant|HIES autosomal dominant|autosomal dominant hyper IgE syndrome|hyperimmunoglobulin E syndrome type 1|autosomal dominant hyperimmunoglobulin E syndrome|AD-HIES|hyper-IgE syndrome, autosomal dominant|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E-recurrent infection syndrome|Job syndrome|STAT3 deficiency|hyper Ig E syndrome, autosomal dominant|AD hyperimmunoglobulin E syndrome|autosomal dominant HIES|hyper-IgE recurrent infection syndrome, autosomal dominant|Job's syndrome|Buckley syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant|autosomal dominant hyper-IgE syndrome|Job syndrome autosomal dominant											ICD10:D82.4|OMIM:147060|EFO:0003775|Orphanet:2314|NCIT:C126342|MESH:C567925|SCTID:50926003|GARD:0006800|DOID:3261														https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome				owl:Class
MONDO:0017114	biolink:NamedThing	global cerebellar malformation		mondoexuq1wtf	diffuse cerebellar malformation											Orphanet:269224|ICD10:Q04.3																		owl:Class
MONDO:0015915	biolink:NamedThing	cerebellar malformation		mondoexuq1wtf												Orphanet:182061																		owl:Class
MONDO:0008537	biolink:NamedThing	telecanthus		mondoexuq1wtf	telecanthus											OMIM:187350|ICD10:Q10.3|Orphanet:98575|MESH:C562941																		owl:Class
MONDO:0019765	biolink:NamedThing	Celosomia		mondoexuq1wtf												SCTID:44518003|Orphanet:93942|ICD9:759.89|ICD10:Q76.7																		owl:Class
MONDO:0016066	biolink:NamedThing	sternal cleft	Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.	mondoexuq1wtf	sternum bifidum|cleft sternum|congenital sternal cleft											ICD10:Q76.7|UMLS:C2931507|SCTID:54008006|MESH:C537489|GARD:0005012|Orphanet:2017|ICD9:756.3														https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft				owl:Class
MONDO:0004956	biolink:NamedThing	metastatic prostate carcinoma	A carcinoma that arises from the prostate gland and has spread to other anatomic sites.	mondoexuq1wtf	prostate carcinoma metastatic|prostate cancer metastatic|metastatic prostate carcinoma|metastatic prostate cancer											SCTID:314994000|ICD9:199.1|NCIT:C8946|EFO:0000196																		owl:Class
MONDO:0005159	biolink:NamedThing	prostate carcinoma	A carcinoma that arises from epithelial cells of the prostate gland.	mondoexuq1wtf	carcinoma of prostate|cancer of prostate|prostate cancer, NOS|prostate gland carcinoma|carcinoma of prostate gland|carcinoma of the prostate|prostate cancer|prostate carcinoma|cancer of the prostate											NCIT:C4863|DOID:10286|KEGG:05215|EFO:0001663|UMLS:C0600139																		owl:Class
MONDO:0003378	biolink:NamedThing	liver leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of liver|leiomyosarcoma of the liver|hepatic leiomyosarcoma|liver leiomyosarcoma											NCIT:C5756|DOID:5296|UMLS:C1333969																		owl:Class
MONDO:0021167	biolink:NamedThing	myositis	An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.	mondoexuq1wtf	inflammatory disorder of muscle|inflammation of muscle tissue|inflammatory disorder of muscle (disorder)|muscle tissue inflammation											UMLS_CUI:C0027121|ICD10:G72.49|MESH:D009220|EFO:0000783|NCIT:C27578|SCTID:128496001|DOID:633|ICD9:728.9|COHD:73001|ICD10:M60.9|ICD10:M60																		owl:Class
MONDO:0004304	biolink:NamedThing	mixed cell type adenoma of parathyroid	A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).	mondoexuq1wtf	parathyroid mixed cell type adenoma|mixed cell type adenoma of the parathyroid|mixed cell type adenoma of parathyroid gland|parathyroid gland mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|mixed cell type adenoma of parathyroid											UMLS:C0279701|DOID:7610|NCIT:C7994																		owl:Class
MONDO:0016412	biolink:NamedThing	peripheral hypothyroidism	Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.	mondoexuq1wtf												Orphanet:226310																		owl:Class
MONDO:0010417	biolink:NamedThing	syndromic X-linked intellectual disability Najm type	Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.	mondoexuq1wtf	intellectual disability, X-linked, syndromic, Najm type|Micpch syndrome|mental retardation, X-linked, syndromic, Najm type|MICPCH|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|X-linked intellectual disability, Najm type|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|mental retardation and microcephaly with pontine and cerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia											MESH:C567466|GARD:0012669|OMIM:300749|Orphanet:163937|ICD10:Q04.3|UMLS:C2677903|DOID:0060807																		owl:Class
MONDO:0001579	biolink:NamedThing	corneal staphyloma		mondoexuq1wtf												ICD10:H18.72|SCTID:52476003|UMLS:C0152440|DOID:12753|ICD9:371.73																		owl:Class
MONDO:0014801	biolink:NamedThing	even-plus syndrome		mondoexuq1wtf	epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|even-plus syndrome|EVPLS											OMIM:616854|UMLS:C4225180|Orphanet:496751																		owl:Class
MONDO:0021193	biolink:NamedThing	neuroepithelial neoplasm	A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.	mondoexuq1wtf	tumor of neuroepithelium|tumor of the neuroepithelium|neuroepithelial tumors|neoplasm of neuroepithelial tissue|neuroepithelial neoplasm|neuroepithelial tissue neoplasm|primary neuroepithelial tumor|neuroepithelial neoplasms|neoplasm of neuroepithelium|tumor of neuroepithelial tissue|neuroepithelial tissue tumor|neoplasm of the neuroepithelium|neuroepithelial tumor					Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm						NCIT:C3787|ONCOTREE:PRNET|MESH:D018302																		owl:Class
MONDO:0043549	biolink:NamedThing	crush syndrome	A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.	mondoexuq1wtf	acute renal failure due to rhabdomyolysis|ischemic muscular necrosis syndrome|crush kidney|crush syndromes|syndrome, crush|myoglobinuric nephrosis|crush syndrome|bywaters' syndrome|myoglobinuric acute renal failure|renal failure following crushing injury|syndromes, crush											SCTID:23697004|MESH:D003444																		owl:Class
MONDO:0005938	biolink:NamedThing	renal tuberculosis	Infection of the kidney due to mycobacteria.	mondoexuq1wtf	tuberculosis of kidney|kidney tuberculosis											MESH:D014398|DOID:9733|EFO:0007463|SCTID:44323002|COHD:193955|ICD9:016.00|ICD9:016.0|UMLS:C0041328|NCIT:C123020																		owl:Class
MONDO:0006002	biolink:NamedThing	urogenital tuberculosis	A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.	mondoexuq1wtf	genitourinary system tuberculosis|genitourinary tuberculosis					Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass						COHD:73686|DOID:2149|ICD10:A18.1|ICD9:016.90|ICD9:016.9|ICD9:016|EFO:0007531|ICD9:016.92|SCTID:4445009|UMLS:C0041333|ICD10:A18.10|MESH:D014401																		owl:Class
MONDO:0013529	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 3	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.	mondoexuq1wtf	catecholaminergic polymorphic ventricular tachycardia type 3|CVPT3|ventricular tachycardia, catecholaminergic polymorphic, 3|CPVT3|TECRL catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL											OMIM:614021|ICD10:I47.2|DOID:0060677|UMLS:C3151463																		owl:Class
MONDO:0002910	biolink:NamedThing	peroneal neuropathy	Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)	mondoexuq1wtf	peroneal neuropathy											DOID:4201|UMLS:C0747533|NCIT:C27596|MESH:D020427																		owl:Class
MONDO:0015871	biolink:NamedThing	benign breast phyllodes tumor	A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.	mondoexuq1wtf	benign cystosarcoma phyllodes|cystosarcoma phyllode|phylloide tumor of the breast|cystosarcoma phyllode of the breast|phyllodes tumor, benign (morphologic abnormality)|cystosarcoma phyllodes NOS (morphologic abnormality)|phyllodes neoplasm|benign phyllodes tumor of breast|phyllode tumor of the breast|cystosarcoma phylloide of the breast|BPT|benign breast phyllodes tumor|benign phyllodes tumor of the breast|breast benign phyllodes neoplasm|benign phyllodes neoplasm of the breast|benign phyllodes neoplasm|benign phyllodes neoplasm of breast|cystosarcoma phylloide|cystosarcoma phyllodes|breast phyllodes tumor, benign											MedDRA:10011813|Orphanet:180261|ICD10:D48.6|SCTID:720344007|UMLS:C1332533|NCIT:C5196|ONCOTREE:BPT|DOID:1631																		owl:Class
MONDO:0003714	biolink:NamedThing	bladder urachal squamous cell carcinoma		mondoexuq1wtf	bladder urachal squamous cell carcinoma											NCIT:C39845|UMLS:C1511206|DOID:5957																		owl:Class
MONDO:0014689	biolink:NamedThing	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome		mondoexuq1wtf	Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism|KFS4|Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism											ICD10:Q76.1|UMLS:C4225285|DOID:0080592|Orphanet:447974|OMIM:616549																		owl:Class
MONDO:0033572	biolink:NamedThing	intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies		mondoexuq1wtf	IDDEBF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES											OMIM:619031																		owl:Class
MONDO:0007935	biolink:NamedThing	cystoid macular edema	Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.	mondoexuq1wtf	DCMD|macular edema, cystoid|cystoid macular dystrophy|macular dystrophy, dominant cystoid|familial macular edema|Mddc|autosomal dominant cystoid macular edema											UMLS:C0730317|Orphanet:75381|OMIM:153880|DOID:4447|NCIT:C34794|ICD10:H35.5|UMLS:C0024440|SCTID:312921000																		owl:Class
MONDO:0003005	biolink:NamedThing	macular retinal edema	Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.	mondoexuq1wtf	macula lutea retinal edema|retinal edema of macula lutea|edema, macular|macular edema											DOID:4449|NCIT:C35468|SCTID:37231002|UMLS:C0271051																		owl:Class
MONDO:0010812	biolink:NamedThing	macrocytosis, familial		mondoexuq1wtf	macrocytosis, familial											MESH:C564004|UMLS:C1838656|OMIM:600084																		owl:Class
MONDO:0002286	biolink:NamedThing	renal artery disease	A disease involving the renal artery.	mondoexuq1wtf	renal vascular disease|vascular disorder of kidney											ICD9:593.81|DOID:2388|UMLS:C0268790|SCTID:16934004|NCIT:C101254|UMLS:C3640053																		owl:Class
MONDO:0021476	biolink:NamedThing	benign neoplasm of tongue	A benign neoplasm that involves the tongue.	mondoexuq1wtf	benign tongue neoplasm|benign tumor of the tongue|tongue neoplasm, benign|benign tumor of tongue|benign tongue tumor|benign neoplasm of the tongue|tongue benign neoplasm											UMLS:C0153933|ICD10:D10.1|NCIT:C3592|SCTID:92443005|ICD9:210.1																		owl:Class
MONDO:0018266	biolink:NamedThing	ataxia - telangiectasia variant	Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	mondoexuq1wtf	v-AT											UMLS:C1876175|Orphanet:370109|ICD10:G11.3																		owl:Class
MONDO:0005925	biolink:NamedThing	pneumonic pasteurellosis	Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.	mondoexuq1wtf												MESH:D012766|EFO:0007449|UMLS:C0036969																		owl:Class
MONDO:0011208	biolink:NamedThing	malignant atrophic papulosis	Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.	mondoexuq1wtf	Degos's malignant atrophic papulosis|malignant atrophic papulosis|Degos disease|papulosis, malignant atrophic|atrophic papulosis, malignant|papulosis atrophican maligna|Degos syndrome|Kohlmeier-Degos-Delort-Tricort syndrome|Köhlmeier-Degos disease|Kohlmeier-Degos disease|Köhlmeier-Degos-Delort-Tricort syndrome											MESH:D054853|NCIT:C84835|MedDRA:10064281|SCTID:400171002|Orphanet:679|OMIM:602248|ICD10:I77.8|ICD9:447.8|UMLS:C0221011|GARD:0006249																		owl:Class
MONDO:0009843	biolink:NamedThing	hypomyelinating leukodystrophy 3	Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.	mondoexuq1wtf	leukodystrophy, hypomyelinating 3|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|perinatal Sudanophilic leukodystrophy|AIMP1 leukodystrophy|hypomyelinating leukodystrophy type 3|leukodystrophy, hypomyelinating, 3|leukodystrophy, hypomyelinating, type 3|HLD3|leukodystrophy caused by mutation in AIMP1											ICD10:E75.2|DOID:0060790|OMIM:260600|Orphanet:280293|UMLS:C1850053|GARD:0004266|MESH:C536319														https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3				owl:Class
MONDO:0017226	biolink:NamedThing	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).	mondoexuq1wtf	PMLD											GARD:0012300|ICD10:E75.2|SCTID:717042001|Orphanet:280270														https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease				owl:Class
MONDO:0004756	biolink:NamedThing	nasal cavity neoplasm	A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	nasal cavity neoplasm (disease)|neoplasm of the nasal cavity|tumor of the nasal cavity|neoplasm of nasal cavity|tumor of nasal cavity|nasal cavity neoplasm|nasal cavity tumor											SCTID:126670003|NCIT:C4413|DOID:9310|UMLS:C0345630																		owl:Class
MONDO:0017993	biolink:NamedThing	cerebral sinovenous thrombosis	A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.	mondoexuq1wtf	CSVT											Orphanet:329217|ICD10:I67.6																		owl:Class
MONDO:0017341	biolink:NamedThing	virus associated tumor		mondoexuq1wtf												Orphanet:289635|UMLS:CN203003														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0006325	biolink:NamedThing	ocular melanoma	A melanoma that arises from the structures of the eye or ocular adnexa.	mondoexuq1wtf	eyeball of camera-type eye melanoma|melanoma of the eye|ocular melanoma|melanoma of eye|melanoma (disease) of eyeball of camera-type eye|eye melanoma (disease)|eyeball of camera-type eye melanoma (disease)|eye melanoma|OM											NCIT:C8562|GARD:0007236|EFO:1000403|ONCOTREE:OM|DOID:1752																		owl:Class
MONDO:0005770	biolink:NamedThing	genital herpes	Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.	mondoexuq1wtf	herpes genitalis|herpes genitalia|virus-genital herpes|venereal herpes|genital herpes simplex											ICD9:054.19|UMLS:C0019342|ICD9:054.1|DOID:8704|MESH:D006558|EFO:0007282|SCTID:33839006|NCIT:C14364|ICD9:054.10														https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0004507	biolink:NamedThing	atypical breast papilloma	An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.	mondoexuq1wtf	atypical breast papilloma											DOID:8227|UMLS:C1332346|NCIT:C36089																		owl:Class
MONDO:0020115	biolink:NamedThing	secondary polycythemia	Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).	mondoexuq1wtf	secondary polycythemia|secondary erythrocytosis											ICD10:D75.1|Orphanet:98428|MedDRA:10036062|COHD:435790|UMLS:C1318533|NCIT:C27178																		owl:Class
MONDO:0013619	biolink:NamedThing	nephrotic syndrome, type 6	Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.	mondoexuq1wtf	PTPRO nephrotic syndrome|NPHS6|nephrotic syndrome caused by mutation in PTPRO|nephrotic syndrome, type 6											UMLS:C3280100|OMIM:614196|DOID:0080384																		owl:Class
MONDO:0012293	biolink:NamedThing	autosomal recessive nonsyndromic deafness 23	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.	mondoexuq1wtf	deafness, autosomal recessive 23|deafness, autosomal recessive type 23|DFNB23|PCDH15 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 23|autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|autosomal recessive deafness 23											ICD10:H90.3|OMIM:609533|DOID:0110481|UMLS:C1836027|MESH:C563705																		owl:Class
MONDO:0018696	biolink:NamedThing	corticobasal syndrome	Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	mondoexuq1wtf												UMLS:CN237765|ICD10:G31.0|Orphanet:454887																		owl:Class
MONDO:0014090	biolink:NamedThing	polydactyly, postaxial, type A6		mondoexuq1wtf	polydactyly, postaxial, type A6|PAPA6											OMIM:615226|UMLS:C3808889																		owl:Class
MONDO:0019673	biolink:NamedThing	postaxial polydactyly type A		mondoexuq1wtf	postaxial polydactyly type A|PAPA|postaxial polydactyly type A (disease)		postaxial polydactyly type A (disease)									Orphanet:93334|UMLS:C3887487|SCTID:715704001|ICD10:Q69.0|HP:0005696																		owl:Class
MONDO:0016812	biolink:NamedThing	dopa-responsive dystonia	Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.	mondoexuq1wtf	DYT-GCH1 (subtype)|DYT-SPR (subtype)|Segawa's disease|DYT5|HPD with diurnal fluctuation|DYT-TH (subtype)|DYT5 dystonia|hereditary progressive dystonia with diurnal fluctuation											UMLS:C1851920|Orphanet:255|ICD10:G24.8|SCTID:230332007|NCIT:C116719|GARD:0009817|MESH:C538007																		owl:Class
MONDO:0001238	biolink:NamedThing	polycythemia neonatorum	A condition in which the red blood cell level is greater than established reference ranges in a newborn.	mondoexuq1wtf	polycythemia of the newborn|polycythemia neonatorum|neonatal polycythemia|plethora of newborn											COHD:439140|UMLS:C0272153|ICD10:P61.1|SCTID:32984002|NCIT:C27069|ICD9:776.4|DOID:11242																		owl:Class
MONDO:0012454	biolink:NamedThing	alcohol sensitivity, acute	Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.	mondoexuq1wtf	alcohol sensitivity, acute|alcohol intolerance|Hangover, susceptibility to|acute alcohol sensitivity											GARD:0012634|OMIM:610251														https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity				owl:Class
MONDO:0021698	biolink:NamedThing	alcohol-related disorders	Disorders related to or resulting from abuse or mis-use of alcohol.	mondoexuq1wtf	disorders, alcohol-related|alcohol-related disorder|alcohol related disorders|disorder, alcohol-related											SCTID:29212009|MESH:D019973																		owl:Class
MONDO:0004499	biolink:NamedThing	lung hilum carcinoma	A lung carcinoma arising from the hilum of the lung.	mondoexuq1wtf	carcinoma of lung hilus|lung hilum cancer|lung hilus carcinoma|hilar lung carcinoma|lung hilum carcinoma											UMLS:C1334445|DOID:8207|NCIT:C7454																		owl:Class
MONDO:0005138	biolink:NamedThing	lung carcinoma	A carcinoma that arises from epithelial cells of the lung	mondoexuq1wtf	lung cancer, NOS|carcinoma of the lung|lung carcinoma|carcinoma of lung|cancer of lung|cancer of the lung|lung cancer											NCIT:C4878|UMLS:C0684249|EFO:0001071|DOID:3905|ICD10:C34.90																		owl:Class
MONDO:0022714	biolink:NamedThing	chester porphyria	Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.	mondoexuq1wtf	PORC|porphyria, Chester type											GARD:0010185														https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria				owl:Class
MONDO:0001383	biolink:NamedThing	degenerative myopia	Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.	mondoexuq1wtf	progressive high (degenerative) myopia|degenerative progressive high myopia|pathological myopia|progressive high myopia											DOID:11829|COHD:381281|SCTID:32022003|EFO:0004207|ICD10:H44.2|MESH:D047728|UMLS:C0154778|ICD9:360.21																		owl:Class
MONDO:0018278	biolink:NamedThing	congenital muscular dystrophy with intellectual disability		mondoexuq1wtf	CMD-MR|CMD with intellectual disability											ICD10:G71.2|Orphanet:370968																		owl:Class
MONDO:0017745	biolink:NamedThing	disorder of O-mannosylglycan synthesis		mondoexuq1wtf												ICD10:E77.8|Orphanet:309469|UMLS:CN227192																		owl:Class
MONDO:0005558	biolink:NamedThing	ovarian disease	A disease involving the ovary.	mondoexuq1wtf	disease of ovary|ovarian disease|ovary disease|disease or disorder of ovary|ovarian disorder|ovary disease or disorder|disorder of ovary											SCTID:5552004|DOID:1100|EFO:0005771|UMLS:C0029928|MESH:D010049|NCIT:C26841																		owl:Class
MONDO:0010682	biolink:NamedThing	myoclonic epilepsy, progressive, X-linked		mondoexuq1wtf	myoclonic epilepsy, progressive					TODO check						OMIM:310370																		owl:Class
MONDO:0007767	biolink:NamedThing	hyperparathyroidism 1		mondoexuq1wtf	hyperparathyroidism, familial isolated primary|HRPT1|parathyroid adenoma, familial|hyperparathyroidism type 1|hyperparathyroidism 1											UMLS:C1840402|OMIM:145000																		owl:Class
MONDO:0015027	biolink:NamedThing	familial isolated hyperparathyroidism	A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.	mondoexuq1wtf	FIHPT|familial isolated hyperparathyroidism|FIHP											ICD10:E21.0|UMLS:CN207422|Orphanet:99879|NCIT:C94830																		owl:Class
MONDO:0020365	biolink:NamedThing	congenital hereditary endothelial dystrophy type I	Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.	mondoexuq1wtf	autosomal dominant congenital hereditary endothelial dystrophy|CHEDI|congenital hereditary endothelial dystrophy type 1|autosomal dominant CHED|CHED1											SCTID:416633008|ICD10:H18.5|Orphanet:98975																		owl:Class
MONDO:0018627	biolink:NamedThing	ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor		mondoexuq1wtf												UMLS:CN237670|Orphanet:443287																		owl:Class
MONDO:0020529	biolink:NamedThing	ACTH-independent Cushing syndrome	Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).	mondoexuq1wtf	adrenal Cushing syndrome|corticotropin-independent Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome											Orphanet:99893|UMLS:CN207429|ICD10:E24.8																		owl:Class
MONDO:0010179	biolink:NamedThing	isolated right ventricular hypoplasia	Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.	mondoexuq1wtf	right ventricular hypoplasia, isolated|isolated hypoplasia of the right ventricle|Irvh|right ventricular hypoplasia|hypoplasia of the right ventricle|right ventricle hypoplasia											GARD:0004721|Orphanet:439|ICD10:Q22.6|MESH:C535682|SCTID:718135001|UMLS:C1848587|OMIM:277200																		owl:Class
MONDO:0010153	biolink:NamedThing	trichoodontoonychial dysplasia	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	trichoodontoonychial dysplasia with bone deficiency|trichoodontoonychial dysplasia with bone deficiency in frontoparietal region											Orphanet:3355|OMIM:275450|SCTID:766813000|UMLS:C3502453|MESH:C564760|GARD:0005267														https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia				owl:Class
MONDO:0009856	biolink:NamedThing	Peters plus syndrome	Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.	mondoexuq1wtf	Peters anomaly with short limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Peters anomaly with short-limb dwarfism|Peters-plus syndrome|Peters anomaly-short limb dwarfism syndrome|Krause-Kivlin syndrome											MESH:C537617|UMLS:C0796012|OMIM:261540|SCTID:449817000|DOID:0070312|GARD:0008422|ICD9:743.44|NCIT:C123436|ICD10:Q13.4|DOID:0080201|Orphanet:709														https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome				owl:Class
MONDO:0017265	biolink:NamedThing	autosomal recessive congenital ichthyosis	Autosomal recessive form of inherited ichthyosis.	mondoexuq1wtf	inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive|ARCI|autosomal recessive inherited ichthyosis					Editor note: ORDO classifies as non-syndromic but syndromic forms exist						OMIMPS:242300|Orphanet:281097|DOID:0060655																		owl:Class
MONDO:0015961	biolink:NamedThing	genetic head and neck malformation		mondoexuq1wtf												Orphanet:183583																		owl:Class
MONDO:0004554	biolink:NamedThing	childhood kidney angiomyolipoma	An angiomyolipoma occurring in childhood.	mondoexuq1wtf	kidney angiomyolipoma of childhood|pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma|childhood renal angiomyolipoma											NCIT:C6565|DOID:8410|UMLS:C1333000																		owl:Class
MONDO:0000937	biolink:NamedThing	syphilitic encephalitis	An encephalitis caused by infection with Treponema.	mondoexuq1wtf	Treponema caused encephalitis|Treponema encephalitis											UMLS:C0153168|ICD9:094.81|SCTID:26135000|DOID:10081																		owl:Class
MONDO:0004489	biolink:NamedThing	fallopian tube gestational choriocarcinoma	A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.	mondoexuq1wtf	gestational choriocarcinoma of fallopian tube|gestational choriocarcinoma of the fallopian tube|fallopian tube gestational choriocarcinoma											NCIT:C6278|DOID:8186|UMLS:C1333593																		owl:Class
MONDO:0003392	biolink:NamedThing	fallopian tube germ cell tumor	A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.	mondoexuq1wtf	fallopian tube germ cell cancer|fallopian tube germ cell neoplasm|fallopian tube germ cell tumor											DOID:5324|NCIT:C40130|UMLS:C1517114																		owl:Class
MONDO:0004280	biolink:NamedThing	asymmetric motor neuropathy		mondoexuq1wtf												UMLS:C1332341|DOID:7559|NCIT:C27953																		owl:Class
MONDO:0004004	biolink:NamedThing	motor nerve neuritis	Inflammation of the peripheral motor nerves.	mondoexuq1wtf	motor neuritis											DOID:683|UMLS:C0235025																		owl:Class
MONDO:0100410	biolink:NamedThing	acute myeloid leukemia, t(16;21)(p11;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)	mondoexuq1wtf	AML, t(16;21)(p11;q22)|AML, t(16;21)(p11.2;q22.2)																													owl:Class
MONDO:0007329	biolink:NamedThing	cirrhosis, familial	Cirrhosis in which no causative agent can be identified.	mondoexuq1wtf	endemic Tyrolean infantile cirrhosis|Sen syndrome|cirrhosis, Noncryptogenic, susceptibility to|cirrhosis, familial|copper-overload cirrhosis|cirrhosis, familial, with pulmonary hypertension|cryptogenic cirrhosis|Indian childhood cirrhosis|hereditary cirrhosis of liver|copper toxicosis, idiopathic|cirrhosis, cryptogenic											NCIT:C84411|SCTID:6183001|OMIM:215600																		owl:Class
MONDO:0021481	biolink:NamedThing	benign neoplasm of submandibular gland	A benign neoplasm that involves the submandibular gland.	mondoexuq1wtf	submandibular gland benign neoplasm|benign tumor of the submandibular gland|benign tumor of submandibular gland|benign neoplasm of the submandibular gland|benign submandibular gland neoplasm|benign submandibular gland tumor											SCTID:92415001|NCIT:C4891|UMLS:C0685988																		owl:Class
MONDO:0021492	biolink:NamedThing	benign neoplasm of major salivary gland	A benign neoplasm that involves the major salivary gland.	mondoexuq1wtf	benign Major salivary gland tumor|benign tumor of the Major salivary gland|major salivary gland benign neoplasm|benign tumor of Major salivary gland|benign neoplasm of the Major salivary gland|benign Major salivary gland neoplasm											NCIT:C4771|ICD9:210.2|SCTID:92205005|UMLS:C0496858																		owl:Class
MONDO:0009248	biolink:NamedThing	fructose and galactose intolerance		mondoexuq1wtf	fructose and galactose intolerance											MESH:C565558|OMIM:229500|UMLS:C1856686																		owl:Class
MONDO:0020497	biolink:NamedThing	Turcot syndrome with polyposis	Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.	mondoexuq1wtf												ICD10:D12.6|Orphanet:99818|UMLS:CN207386																		owl:Class
MONDO:0004250	biolink:NamedThing	extrahepatic bile duct papillary adenoma	An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.	mondoexuq1wtf	extrahepatic bile duct papillary adenoma|papillary adenoma of the extrahepatic bile duct|papillary adenoma of extrahepatic bile duct											DOID:7503|NCIT:C5849|UMLS:C1333510																		owl:Class
MONDO:0012936	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 5		mondoexuq1wtf	leukemia, chronic lymphocytic, susceptibility to, type 5|leukemia, chronic lymphocytic, susceptibility to, 5|Clls5											OMIM:612559																		owl:Class
MONDO:0021511	biolink:NamedThing	benign neoplasm of adrenal gland	A benign neoplasm that involves the adrenal gland.	mondoexuq1wtf	benign adrenal gland tumor|benign adrenal tumor|benign adrenal neoplasm|benign adrenal gland neoplasm|adrenal gland benign neoplasm|benign tumor of adrenal gland|benign tumor of the adrenal gland|benign neoplasm of the adrenal gland											ICD9:227.0|NCIT:C3629|SCTID:91967007|UMLS:C0154040																		owl:Class
MONDO:0010790	biolink:NamedThing	MERRF syndrome	A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.	mondoexuq1wtf	myoclonic epilepsy with ragged red fibers|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy - ragged red fibers|myoclonic epilepsy associated with ragged red fibers|Fukuhara syndrome|MERRF|myoclonus epilepsy and ragged red fibers|myoencephalopathy ragged-red fiber disease|myoclonus with epilepsy and with ragged Red fibers|MERRF syndrome|myoclonus epilepsy associated with ragged-red fibres|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)											DOID:310|ICD9:277.87|Orphanet:551|UMLS:C0162672|SCTID:68448003|ICD10:E88.42|ICD10:G71.3|GARD:0007144|NCIT:C84889|OMIM:545000|MedDRA:10069825|MESH:D017243																		owl:Class
MONDO:0003219	biolink:NamedThing	gastroesophageal junction adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.	mondoexuq1wtf	esophagogastric junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction|adenocarcinoma of the gastroesophageal junction|adenocarcinoma of the GE junction|adenocarcinoma of gastroesophageal junction|esophagogastric adenocarcinoma|adenocarcinoma - GEJ|gastroesophageal junction adenocarcinoma|adenocarcinoma of the EG junction|adenocarcinoma of cardioesophageal junction|adenocarcinoma of the esophagogastric junction											NCIT:C9296|UMLS:C1332166|DOID:4944|ONCOTREE:EGC|ONCOTREE:GEJ																		owl:Class
MONDO:0009514	biolink:NamedThing	Laurence-Moon syndrome	Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.	mondoexuq1wtf	Laurence-Moon-Biedl syndrome|Laurence-MOON syndrome|LNMS|Laurence-Moon syndrome											NCIT:C34760|SCTID:232059000|DOID:1930|ICD10:Q87.8|Orphanet:2377|GARD:0012635|MESH:D007849|MedDRA:10056710|ICD9:253.4|UMLS:C0023138|OMIM:245800														https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome				owl:Class
MONDO:0007338	biolink:NamedThing	cleft soft palate	Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.	mondoexuq1wtf	cleft velum|cleft soft palate|soft cleft palate|cleft velum palatinum											MESH:C562950|SCTID:253997002|ICD10:Q35.3|DOID:0110214|OMIM:119570|Orphanet:99772																		owl:Class
MONDO:0008968	biolink:NamedThing	cholestasis with gallstone, ataxia, and visual disturbance		mondoexuq1wtf	cholestasis with gallstone, ataxia, and visual disturbance											OMIM:214980|UMLS:C1859161|MESH:C565856																		owl:Class
MONDO:0032723	biolink:NamedThing	immunodeficiency 60		mondoexuq1wtf	Immunodeficiency and Autoimmunity, Bach2-Related|IMD60|IMMUNODEFICIENCY 60											OMIM:618394																		owl:Class
MONDO:0021162	biolink:NamedThing	carotenemia		mondoexuq1wtf												UMLS:C0154271|ICD9:278.3|ICD10:E67.1																		owl:Class
MONDO:0011461	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 2	Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.	mondoexuq1wtf	febrile seizures, familial, 3A|febrile seizures, familial caused by mutation in SCN1A|GEFSP2|Gefs+, type 2|generalized epilepsy with febrile seizures plus, type 2|SCN1A febrile seizures, familial											OMIM:604403|DOID:0111294|MESH:C565810|UMLS:C1858673																		owl:Class
MONDO:0012639	biolink:NamedThing	hereditary spastic paraplegia 18	A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	mondoexuq1wtf	spastic paraplegia 18, autosomal recessive|autosomal recessive spastic paraplegia type 18|intellectual disability, motor dysfunction, and Joint contractures|spastic paraplegia 18|autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|SPG18|hereditary spastic paraplegia type 18|autosomal recessive spastic paraplegia 18|ERLIN2 autosomal recessive complex spastic paraplegia|intellectual disability, motor dysfunction and joint contractures											Orphanet:209951|MESH:C567628|SCTID:732932004|GARD:0004922|ICD10:G11.4|OMIM:611225|DOID:0110771																		owl:Class
MONDO:0001855	biolink:NamedThing	rubeosis iridis		mondoexuq1wtf												ICD9:364.42|COHD:440098|DOID:14000|UMLS:C0154916|SCTID:51995000|ICD10:H21.1																		owl:Class
MONDO:0013075	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 2		mondoexuq1wtf	herpes simplex encephalitis, susceptibility to, 2|encephalopathy, acute, infection-induced, susceptibility to, 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2|IIAE2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2											OMIM:613002																		owl:Class
MONDO:0020068	biolink:NamedThing	postinfectious encephalitis		mondoexuq1wtf												Orphanet:98253|MedDRA:10057235|UMLS:C0393459|SCTID:192727001|ICD9:323.6																		owl:Class
MONDO:0016071	biolink:NamedThing	juvenile hyaline fibromatosis	Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.	mondoexuq1wtf	Murray-Puretic-Drescher syndrome|Molluscum fibrosum|Puretic syndrome|mesenchymal dysplasia											ICD10:M72.8|Orphanet:2028|NCIT:C98297|SCTID:238861002|ICD9:733.29																		owl:Class
MONDO:0019261	biolink:NamedThing	infantile neuronal ceroid lipofuscinosis	A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.	mondoexuq1wtf	INCL|Hagberg-Santavuori disease|Santavuori disease|Santavuori-Haltia disease|infantile NCL											Orphanet:79263|ICD10:E75.4|SCTID:58258004																		owl:Class
MONDO:0043969	biolink:NamedThing	nocturnal paroxysmal dystonia	A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.	mondoexuq1wtf	sleep-related dystonias|hypnogenic paroxysmal dystonias|sleep-related dystonia|dystonia, sleep-related|dystonias, hypnogenic paroxysmal|paroxysmal dystonia, hypnogenic|dystonias, sleep-related|dystonia, hypnogenic paroxysmal|hypnogenic paroxysmal dystonia|sleep related dystonia|dystonia, nocturnal paroxysmal|nocturnal paroxysmal dystonias|paroxysmal dystonia, nocturnal|dystonia, nocturnal, paroxysmal|paroxysmal dystonias, nocturnal|paroxysmal dystonias, hypnogenic|dystonias, nocturnal paroxysmal											SCTID:230500006|UMLS:C0393777|MESH:D020183|EFO:1001772																		owl:Class
MONDO:0004077	biolink:NamedThing	lumbosacral lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.	mondoexuq1wtf	sacral region of vertebral column lipoma|lipoma of sacral region of vertebral column											UMLS:C1334438|DOID:7017|NCIT:C6500																		owl:Class
MONDO:0011902	biolink:NamedThing	Charcot-Marie-Tooth disease type 1F	A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 1F|NEFL Charcot-Marie-Tooth disease type 1|CMT 1F|CMT1F|Charcot-Marie-Tooth disease, demyelinating, type 1F|Charcot Marie Tooth disease type 1F|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth neuropathy type 1F											OMIM:607734|Orphanet:101085|MESH:C537987|UMLS:C1843164|GARD:0009191|ICD10:G60.0|DOID:0110149|SCTID:719980006														https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f				owl:Class
MONDO:0019011	biolink:NamedThing	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.	mondoexuq1wtf	hereditary motor and sensory neuropathy type 1|Charcot-Marie-Tooth neuropathy type 1|autosomal dominant demyelinating Charcot-Marie-Tooth disease|CMT1|Charcot-Marie-Tooth type 1											DOID:0050538|GARD:0012433|Orphanet:65753|SCTID:398040009|ICD10:G60.0																		owl:Class
MONDO:0005433	biolink:NamedThing	alcohol withdrawal		mondoexuq1wtf	alcohol withdrawal syndrome											UMLS:C0236663|EFO:0004777|SCTID:191480000|ICD9:291.81																		owl:Class
MONDO:0010772	biolink:NamedThing	Leber optic atrophy and dystonia		mondoexuq1wtf	Leber hereditary optic neuropathy with dystonia|Leber Hereditary optic neuropathy with dystonia|Leber's hereditary optic neuropathy with dystonia|dystonia, familial, with visual failure and striatal lucencies|LDYT|Marsden syndrome|LHON and dystonia|Leber optic atrophy and dystonia|dystonia familial, with visual failure and striatal lucencies											GARD:0008476|DOID:0111755|MESH:C536024|OMIM:500001|UMLS:C1839040																		owl:Class
MONDO:0020478	biolink:NamedThing	Leber plus disease	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.	mondoexuq1wtf	LHON plus disease											Orphanet:99718|ICD10:H47.2|SCTID:719430008|DOID:0111754|UMLS:C4304725|UMLS:CN207347																		owl:Class
MONDO:0001962	biolink:NamedThing	abnormality of glucagon secretion		mondoexuq1wtf	glucagon secretion abnormality											DOID:14427|SCTID:11178005|ICD9:251.4|UMLS:C0154191																		owl:Class
MONDO:0017571	biolink:NamedThing	Proteus-like syndrome	Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.	mondoexuq1wtf	Cohen-Hayden syndrome|Proteus like syndrome intellectual disability eye defect|Proteus like syndrome mental retardation eye defect											ICD10:Q87.3|GARD:0012801|Orphanet:2969|GARD:0004525|SCTID:716862002																		owl:Class
MONDO:0013514	biolink:NamedThing	hypotrichosis 3	Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.	mondoexuq1wtf	hypotrichosis type 3|hypotrichosis simplex of the scalp 2|hypt3|KRT74 hypotrichosis|hypotrichosis caused by mutation in KRT74|Htss2|HYPT3|hypotrichosis 3											DOID:0110700|UMLS:C3151432|OMIM:613981																		owl:Class
MONDO:0018735	biolink:NamedThing	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.	mondoexuq1wtf	MLT|MALT1 wt allele|MLT1|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|multifocal lymphangioendotheliomatosis with thrombocytopenia|DKFZp434L132|cutaneovisceral angiomatosis-thrombocytopenia syndrome											ICD10:D18.1|GARD:0010467|NCIT:C60672|Orphanet:464321|UMLS:CN242151																		owl:Class
MONDO:0002013	biolink:NamedThing	lymphangioma	A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.	mondoexuq1wtf	LM|benign lymphangioma (morphologic abnormality)|lymphangioma|benign lymphangioma|congenital lymphangioma|lymphangioma, benign											DOID:1475|Orphanet:2415|ICD10:D18.1|ICDO:9170/0|GARD:0009789|COHD:433997|NCIT:C8965|SCTID:254836000|SCTID:400178008|MESH:D008202|ICD9:228.1|UMLS:CN201700																		owl:Class
MONDO:0012058	biolink:NamedThing	myocardial infarction, susceptibility to, 2		mondoexuq1wtf	myocardial infarction, susceptibility to, type 2|Mci2|myocardial infarction, susceptibility to, 2											OMIM:608557|UMLS:C1837871																		owl:Class
MONDO:0009426	biolink:NamedThing	hypoparathyroidism-retardation-dysmorphism syndrome	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.	mondoexuq1wtf	hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism-retardation-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|HRDS|hypoparathyroidism with short stature, mental retardation, and seizures|SSS|hypoparathyroidism with short stature, intellectual disability, and seizures|hypoparathyroidism with short stature, mental retardation and seizures|Sanjad-Sakati syndrome|HRD|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|Richardson-Kirk syndrome|hypoparathyroidism with short stature, intellectual disability and seizures|HRD syndrome											GARD:0000411|UMLS:C1855840|DOID:0060348|ICD10:Q87.1|Orphanet:2323|OMIM:241410|MESH:C537157|NCIT:C133727																		owl:Class
MONDO:0043168	biolink:NamedThing	panostotic fibrous dysplasia		mondoexuq1wtf	unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia											GARD:0004213|UMLS:C2931430|MESH:C537164																		owl:Class
MONDO:0005523	biolink:NamedThing	steroid inherited metabolic disorder	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.	mondoexuq1wtf												MESH:D043202|EFO:0005590|UMLS:C1257809|DOID:1701																		owl:Class
MONDO:0001307	biolink:NamedThing	corneal abscess	An abscess of the cornea.	mondoexuq1wtf						Editor note: consider placing in HPO						NCIT:C26969|UMLS:C0155091|ICD10:H16.31|SCTID:64366002|ICD9:370.55|DOID:11543																		owl:Class
MONDO:0001609	biolink:NamedThing	agranulocytosis	A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.	mondoexuq1wtf	Granulocytopenic disorder|Granulopenia|granulocytopenia											UMLS:C0001824|DOID:12987|ICD9:288.8|SCTID:417672002|GARD:0006545|NCIT:C2863|MESH:D000380|ICD10:D70																		owl:Class
MONDO:0017950	biolink:NamedThing	microcephalic primordial dwarfism		mondoexuq1wtf												Orphanet:324761|ICD10:Q87.1|DC:0000561|UMLS:CN437676																		owl:Class
MONDO:0001405	biolink:NamedThing	dermatophytosis of groin and perianal area	Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.	mondoexuq1wtf	dermatophytosis of groin and perianal area|tinea cruris|Dhobie itch|dermatophytosis of groin & perianal area											UMLS:C0011638|ICD9:110.3|NCIT:C34535|SCTID:399029005|DOID:11917																		owl:Class
MONDO:0014674	biolink:NamedThing	maturity-onset diabetes of the young type 14	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.	mondoexuq1wtf	maturity-onset diabetes of the young, type 14|maturity-onset diabetes of the young (disease) caused by mutation in APPL1|APPL1 maturity-onset diabetes of the young (disease)|MODY14											DOID:0111111|UMLS:C4225299|OMIM:616511																		owl:Class
MONDO:0018000	biolink:NamedThing	hereditary thrombocytosis with transverse limb defect	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	mondoexuq1wtf	familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects											ICD10:Q87.2|Orphanet:329319|UMLS:CN204208																		owl:Class
MONDO:0005856	biolink:NamedThing	Mononegavirales infectious disease	Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.	mondoexuq1wtf	Mononegavirales disease or disorder|Mononegavirales caused disease or disorder											EFO:0007376|UMLS:C0242916|MESH:D018701																		owl:Class
MONDO:0016641	biolink:NamedThing	limb transversal defect-cardiac anomaly syndrome		mondoexuq1wtf	Hecht-Scott syndrome											MESH:C535856|UMLS:C2931047|ICD10:Q87.2|Orphanet:2492																		owl:Class
MONDO:0042491	biolink:NamedThing	cervical squamous intraepithelial neoplasia	A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.	mondoexuq1wtf	cervical sil|cervical squamous intraepithelial lesion|squamous intraepithelial lesion of cervix uteri|squamous intraepithelial lesion of cervix|squamous intraepithelial lesion of the cervix|squamous intraepithelial lesion of the uterine cervix|uterine cervix sil|squamous intraepithelial lesion of the cervix uteri|CIN|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of uterine cervix|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|cervix squamous intraepithelial lesion|cervix uteri sil											MESH:D065310|NCIT:C7346																		owl:Class
MONDO:0024475	biolink:NamedThing	squamous cell intraepithelial neoplasia		mondoexuq1wtf	squamous cell intraepithelial neoplasia|SIN|sil|squamous intraepithelial lesion											NCIT:C8334																		owl:Class
MONDO:0006798	biolink:NamedThing	hypervitaminosis A	A symptom complex resulting from ingesting excessive amounts of vitamin A.	mondoexuq1wtf	hypervitaminosis type A											DOID:9972|UMLS:C0020579|COHD:436941|ICD10:E67.0|MedDRA:10020916|SCTID:64559002|ICD9:278.2|EFO:1000978|MESH:D006986																		owl:Class
MONDO:0003916	biolink:NamedThing	overnutrition	An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.	mondoexuq1wtf												MESH:D044343|ICD9:278.8|UMLS:C1257763|SCTID:302872003|DOID:654																		owl:Class
MONDO:0005946	biolink:NamedThing	rhinosporidiosis	Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.	mondoexuq1wtf	Rhinosporidium seeberi disease or disorder|Rhinosporidioses|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi caused disease or disorder|infection by Rhinosporidium seeberi											UMLS:C0035469|SCTID:18140003|ICD10:B48.1|MESH:D012227|DOID:2409|ICD9:117.0|EFO:0007471|COHD:438364																		owl:Class
MONDO:0000307	biolink:NamedThing	parasitic Ichthyosporea infectious disease	A disease caused by infection with Ichthyosporea.	mondoexuq1wtf	Ichthyosporea caused disease or disorder|Ichthyosporea infectious disease|Ichthyosporea disease or disorder											DOID:0050291																		owl:Class
MONDO:0011248	biolink:NamedThing	distal monosomy 13q	Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	mondoexuq1wtf	distal monosomy type 13q|distal 13q deletion|telomeric deletion13q|deletion 13q32|monosomy 13q32|anal atresia, hypospadias, and penoscrotal inversion|13q32 deletion											SCTID:763527007|ICD10:Q93.5|MESH:C566526|UMLS:C1865208|OMIM:602553|Orphanet:1590																		owl:Class
MONDO:0016911	biolink:NamedThing	partial deletion of the long arm of chromosome 13	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.	mondoexuq1wtf	chromosome 13q deletion|13q monosomy|partial deletion of the long arm of chromosome type 13|deletion 13q|partial monosomy of the long arm of chromosome 13|loss of chromosome 13q|13q deletion|partial deletion of chromosome 13q|monosomy 13q|partial monosomy of chromosome 13q|del(13q)											MESH:C535449|GARD:0001738|Orphanet:262101|NCIT:C36497|ICD10:Q93.5																		owl:Class
MONDO:0003748	biolink:NamedThing	flying phobia	An overwhelming, irrational, and persistent fear of traveling in an aircraft.	mondoexuq1wtf												NCIT:C35413|DOID:605|EFO:1001889																		owl:Class
MONDO:0004718	biolink:NamedThing	xeroderma of eyelid		mondoexuq1wtf												UMLS:C0155179|ICD9:373.33|DOID:9140|SCTID:55846006|ICD10:H01.14																		owl:Class
MONDO:0002137	biolink:NamedThing	noninfectious dermatoses of eyelid		mondoexuq1wtf	non-infected eyelid dermatoses											UMLS:C0155176|DOID:1894|ICD10:H01.1|SCTID:111524003|ICD9:373.3																		owl:Class
MONDO:0020675	biolink:NamedThing	ischemic bowel disease	Disease of the large or small intestine that is caused by inadequate blood supply.	mondoexuq1wtf	ischemic bowel disease											NCIT:C35212																		owl:Class
MONDO:0008244	biolink:NamedThing	piebaldism	Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	mondoexuq1wtf	piebaldism|PBT|partial albinism|piebald trait											SCTID:6479008|Orphanet:2884|ICD9:270.2|ICD10:E70.3|NCIT:C85009|ICD10:E70.39|GARD:0004344|UMLS:C0080024|MESH:D016116|OMIM:172800|DOID:3263														https://rarediseases.info.nih.gov/diseases/4344/piebaldism				owl:Class
MONDO:0009188	biolink:NamedThing	epilepsy-telangiectasia syndrome	Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	mondoexuq1wtf	mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|epilepsy-telangiectasia|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|epilepsy telangiectasia											ICD10:G40.8|UMLS:C1856929|OMIM:226850|MESH:C535497|GARD:0002168|Orphanet:1951																		owl:Class
MONDO:0004336	biolink:NamedThing	rectal signet ring cell adenocarcinoma	An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.	mondoexuq1wtf	rectum signet ring cell carcinoma|signet Ring cell adenocarcinoma of the rectum|rectum signet ring adenocarcinoma|signet Ring adenocarcinoma of the rectum|signet Ring cell adenocarcinoma of rectum|signet Ring adenocarcinoma of rectum|rectal signet Ring cell adenocarcinoma											NCIT:C9168|DOID:7707|UMLS:C0279654																		owl:Class
MONDO:0002169	biolink:NamedThing	rectum adenocarcinoma	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	mondoexuq1wtf	read|adenocarcinoma of rectum|rectal adenocarcinoma|adenocarcinoma of the rectum|rectum adenocarcinoma|adenocarcinoma - rectum											EFO:0005631|NCIT:C9383|DOID:1996|ONCOTREE:READ|UMLS:C0149978|SCTID:254582000																		owl:Class
MONDO:0012819	biolink:NamedThing	diabetic ketoacidosis	The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.	mondoexuq1wtf	KPD|diabetes mellitus, ketosis-prone|ketosis-prone diabetes mellitus											ICD9:250.10|SCTID:420422005|UMLS:C0011880|COHD:443727|MESH:D016883|ICD9:250.1|OMIM:612227|DOID:1837|EFO:1000897|MedDRA:10012671																		owl:Class
MONDO:0007699	biolink:NamedThing	Hashimoto thyroiditis	An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.	mondoexuq1wtf	Hashimoto disease|thyroiditides, Hashimoto|lymphocytic thyroiditis, chronic|Hashimoto's syndrome|thyroiditides, chronic lymphocytic|syndromes, Hashimoto's|Hashimoto thyroiditides|lymphocytic thyroiditides, chronic|hypothyroidism, autoimmune|Hashimoto struma|Hashimoto's disease|Hashimoto's thyroiditis|HT|disease, Hashimoto|Hashimoto's struma|lymphocytic thyroiditis|Ht|Hashimotos syndrome|disease, Hashimoto's|chronic lymphocytic thyroiditis|syndrome, Hashimoto's|Hashimoto's syndromes|thyroiditis, chronic lymphocytic|Hashimotos disease|chronic lymphocytic thyroiditides|hypothyroidism, autoimmune thyroid autoantibodies, included|autoimmune thyroiditis|thyroid autoantibodies|thyroiditis, Hashimoto|Hashimoto syndrome|Hashimoto thyroiditis											NCIT:C27191|DOID:7188|ICD10:E06.3|UMLS:C0677607|Wikipedia:Hashimoto's_thyroiditis|OMIM:140300|COHD:135215|ICD9:245.2|MESH:D050031|EFO:0003779																		owl:Class
MONDO:0018246	biolink:NamedThing	homozygous 2p21 microdeletion syndrome		mondoexuq1wtf	2p21 contiguous gene deletion syndrome											Orphanet:369886|ICD10:Q93.5|UMLS:CN204808																		owl:Class
MONDO:0016884	biolink:NamedThing	partial deletion of the short arm of chromosome 2		mondoexuq1wtf	partial deletion of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of chromosome 2p|partial monosomy of the short arm of chromosome 2											ICD10:Q93.5|Orphanet:261866																		owl:Class
MONDO:0043277	biolink:NamedThing	mosaic trisomy 6	Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).	mondoexuq1wtf	trisomy 6 mosaicism|trisomy 6					Editor notes: TODO DPs for partial/complete/mosaic						NCIT:C36475|GARD:0007815|SCTID:205647005																		owl:Class
MONDO:0020050	biolink:NamedThing	autosomal trisomy	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.	mondoexuq1wtf	trisomy|autosomal duplication|chromosomal triplication											SCTID:429442006|ICD9:758.5|Orphanet:98130|UMLS:C1996945|GARD:0006065																		owl:Class
MONDO:0000977	biolink:NamedThing	chondroid lipoma	A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.	mondoexuq1wtf												NCIT:C6503|SCTID:404065000|ICDO:8862/0|UMLS:C1266131|DOID:10208																		owl:Class
MONDO:0003873	biolink:NamedThing	ovarian surface papilloma	A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.	mondoexuq1wtf	ovarian surface papilloma											NCIT:C7279|DOID:6407|UMLS:C1335183																		owl:Class
MONDO:0005779	biolink:NamedThing	hand, foot and mouth disease	A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.	mondoexuq1wtf	vesicular stomatitis and exanthem|hand, foot, and mouth disease|HFMD|hand foot and mouth disease											SCTID:266108008|ICD9:074.3|DOID:10881|MESH:D006232|NCIT:C128439|UMLS:C0018572|ICD10:B08.4|EFO:0007294																		owl:Class
MONDO:0004251	biolink:NamedThing	small intestine neoplasm	A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	small intestine neoplasm (disease)|tumor of the small intestine|small bowel tumor|tumor of small bowel|small intestine neoplasm|neoplasm of the small bowel|small bowel neoplasm|small intestine tumor|tumor of the small bowel|neoplasm of small bowel|neoplasm of small intestine|small intestinal neoplasm|neoplasm of the small intestine|tumor of small intestine											SCTID:126832004|DOID:7505|UMLS:C0345832|NCIT:C4432																		owl:Class
MONDO:0100318	biolink:NamedThing	SARS-CoV-2-related disease	A related disease caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.	mondoexuq1wtf	COVID-19-related disease							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0007986	biolink:NamedThing	metatropic dysplasia	Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.	mondoexuq1wtf	Metatropic dwarfism|metatropic dysplasia|Metatropic dysplasia, nonlethal dominant											SCTID:22764001|ICD10:Q77.8|DOID:0111514|MESH:C537356|GARD:0003571|OMIM:156530|Orphanet:2635														https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia				owl:Class
MONDO:0018240	biolink:NamedThing	TRPV4-related bone disorder		mondoexuq1wtf												Orphanet:364820|UMLS:CN227290																		owl:Class
MONDO:0016896	biolink:NamedThing	partial deletion of the short arm of chromosome 18		mondoexuq1wtf	partial monosomy of the short arm of chromosome 18|partial monosomy of chromosome 18p|partial deletion of chromosome 18p|partial deletion of the short arm of chromosome type 18											Orphanet:261974|ICD10:Q93.5																		owl:Class
MONDO:0022794	biolink:NamedThing	chromosome 8 deletion	A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8.	mondoexuq1wtf	Anomaly of chromosome pair 8|Deletions of chromosome 8|loss of chromosome 8|del(8)|chromosome 8 deletion											NCIT:C36535|MESH:C537823|GARD:0012070|UMLS:C0265418																		owl:Class
MONDO:0015153	biolink:NamedThing	autosomal monosomy		mondoexuq1wtf	autosomal deletion											ICD10:Q93.2|ICD10:Q93.4|ICD10:Q93.9|ICD10:Q93.5|ICD10:Q93.1|Orphanet:102020|ICD10:Q93.6|ICD10:Q93.3|ICD10:Q93.7|ICD10:Q93.8|ICD10:Q93.0																		owl:Class
MONDO:0032831	biolink:NamedThing	pontocerebellar hypoplasia, type 13		mondoexuq1wtf	PCH13|PONTOCEREBELLAR HYPOPLASIA, TYPE 13											OMIM:618606																		owl:Class
MONDO:0018289	biolink:NamedThing	congenital disorder of glycosylation with dilated cardiomyopathy		mondoexuq1wtf	CDG with dilated cardiomyopathy											ICD10:E77.8|Orphanet:371176																		owl:Class
MONDO:0016333	biolink:NamedThing	familial dilated cardiomyopathy	A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.	mondoexuq1wtf	hypokinetic dilated cardiomyopathy, familial|DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hereditary dilated cardiomyopathy					Editor note: unsure if GARD is familial form						MESH:C536231|Orphanet:217607|ICD10:I42.0|OMIMPS:115200|GARD:0002905|UMLS:C0340427|GARD:0000221																		owl:Class
MONDO:0012957	biolink:NamedThing	multiple sclerosis, susceptibility to, 3		mondoexuq1wtf	multiple sclerosis, susceptibility to, 3|MS3											OMIM:612595																		owl:Class
MONDO:0018635	biolink:NamedThing	idiopathic phalangeal acro-osteolysis		mondoexuq1wtf	idiopathic phalangeal acroosteolysis											ICD10:M89.5|Orphanet:444316																		owl:Class
MONDO:0019294	biolink:NamedThing	mixed dermis disorder		mondoexuq1wtf						Editor note: check if genetic						UMLS:CN227617|Orphanet:79380																		owl:Class
MONDO:0009654	biolink:NamedThing	mucopolysaccharidoses, unclassified types		mondoexuq1wtf	mucopolysaccharidoses, unclassified types											UMLS:C0220752|OMIM:252700|MESH:C562442																		owl:Class
MONDO:0004557	biolink:NamedThing	congenital fibrosarcoma	A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.	mondoexuq1wtf	infantile fibrosarcoma (morphologic abnormality)|infantile fibrosarcoma|congenital fibrosarcoma|IFS|infantile fibrosarcoma (congenital fibrosarcoma)											ICD9:171.9|UMLS:C0334459|SCTID:403996004|ONCOTREE:IFS|NCIT:C4244|DOID:8418|ICDO:8814/3																		owl:Class
MONDO:0002678	biolink:NamedThing	pediatric fibrosarcoma	A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	adult fibrosarcoma of childhood|childhood fibrosarcoma|pediatric fibrosarcoma|pediatric adult fibrosarcoma|fibrosarcoma|childhood adult fibrosarcoma											UMLS:C0279981|DOID:3520|NCIT:C8088																		owl:Class
MONDO:0014240	biolink:NamedThing	periventricular nodular heterotopia 6	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.	mondoexuq1wtf	ERMARD periventricular nodular heterotopia|PVNH6|periventricular nodular heterotopia caused by mutation in ERMARD|periventricular nodular heterotopia 6|periventricular nodular heterotopia type 6											UMLS:C3809872|OMIM:615544																		owl:Class
MONDO:0011153	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 2	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, familial, type 2|hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|hyperinsulinism, congenital|HHF2|hyperinsulinism, neonatal|hyperinsulinemic hypoglycemia, familial, 2|hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia, persistent|persistent hyperinsulinemic hypoglycemia of infancy|KCNJ11 hyperinsulinemic hypoglycemia (disease)|Nesidioblastosis|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinism, familial											DOID:0070218|UMLS:C2931833|GARD:0009927|OMIM:601820														https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2				owl:Class
MONDO:0016496	biolink:NamedThing	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome		mondoexuq1wtf	pharyngo-cervico-brachial variant of GBS|pharyngo-cervico-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial weakness|PCB variant of GBS|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of Guillain-BarrC) syndrome											Orphanet:231426|UMLS:CN201499|ICD10:G61.0																		owl:Class
MONDO:0016494	biolink:NamedThing	regional variant of Guillain-Barre syndrome		mondoexuq1wtf	regional variant of GBS|regional variant of Guillain-Barré syndrome											ICD10:G61.0|UMLS:CN201496|Orphanet:231416																		owl:Class
MONDO:0007716	biolink:NamedThing	alpha thalassemia-intellectual disability syndrome type 1	Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	mondoexuq1wtf	mental retardation with Hemoglobin H|alpha thalassemia-retardation syndrome|alpha-thalassemia/mental retardation syndrome, type 1|chromosome 16P deletion syndrome|intellectual disability with Hemoglobin H|alpha-thalassemia/mental retardation syndrome, deletion-type|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|ATR-16 syndrome|ATR, deletion-type|Hemoglobin H-related mental retardation|alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia/mental retardation syndrome, deletion-type|ATR syndrome, deletion type|Hemoglobin H-related intellectual disability|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|alpha-thalassemia/intellectual disability syndrome, type 1|Alpha thalassemia-mental retardation syndrome|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|alpha-thalassemia/intellectual disability syndrome, deletion-type|ATR syndrome linked to chromosome 16|Alpha thalassemia-intellectual disability syndrome|Alpha-thalassemia/intellectual disability syndrome, deletion-type|Alpha thalassemia-intellectual disability syndrome, deletion type|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related											OMIM:141750|UMLS:C0795917|UMLS:C0475813|MESH:C563050|ICD10:D56.0|ICD9:282.49|SCTID:277918006|DOID:0110029|Orphanet:98791																		owl:Class
MONDO:0020562	biolink:NamedThing	pleomorphic liposarcoma	Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.	mondoexuq1wtf	pleomorphic liposarcoma (morphologic abnormality)|PLLS|PLS|pleomorphic liposarcoma											DOID:5702|SCTID:404071006|Orphanet:99969|ICD10:C49.9|UMLS:C0205825|EFO:0003083|ICDO:8854/3|ICD9:171.9|ONCOTREE:PLLS|NCIT:C3705																		owl:Class
MONDO:0043009	biolink:NamedThing	genetic lethal multiple congenital anomalies/dysmorphic syndrome	An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary lethal multiple congenital anomalies/dysmorphic syndrome											Orphanet:471383																		owl:Class
MONDO:0018731	biolink:NamedThing	lethal multiple congenital anomalies/dysmorphic syndrome		mondoexuq1wtf												Orphanet:459787																		owl:Class
MONDO:0019127	biolink:NamedThing	polymyositis	Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.	mondoexuq1wtf	polymyositis|PM											UMLS:C0085655|GARD:0007425|Wikipedia:Polymyositis|ICD9:710.4|MESH:D017285|SCTID:31384009|COHD:80800|ICD10:M33.2|EFO:0003063|NCIT:C26925|MedDRA:10036102|Orphanet:732																		owl:Class
MONDO:0007400	biolink:NamedThing	Jackson-Weiss syndrome	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.	mondoexuq1wtf	JWS|Jackson-Weiss syndrome|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|craniosynostosis, midfacial hypoplasia, and foot abnormalities											ICD9:759.89|OMIM:123150|SCTID:709105005|GARD:0006796|Orphanet:1540|MESH:C537559|UMLS:C0795998|DOID:0111337|ICD10:Q87.8|NCIT:C123814														https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome				owl:Class
MONDO:0008628	biolink:NamedThing	ureterocele	A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.	mondoexuq1wtf	ureterocele|ureterocele (disease)		ureterocele (disease)									HP:0000070|NCIT:C123159|MedDRA:10056433|DOID:4022|COHD:192440|SCTID:12818004|MESH:D014518|EFO:1001227|OMIM:191650|ICD9:593.89																		owl:Class
MONDO:0005350	biolink:NamedThing	abdominal aortic aneurysm	Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.	mondoexuq1wtf	aortic aneurysm, familial abdominal 1											SCTID:233985008|UMLS:C0162871|EFO:0004214|MESH:D017544|DOID:7693																		owl:Class
MONDO:0005160	biolink:NamedThing	aortic aneurysm	A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	mondoexuq1wtf	abdominal aortic aneurysm, ruptured|aortic aneurysm|ruptured thoracoabdominal aortic aneurysm|ruptured thoracic aortic aneurysm|aortic aneurysm (disease)|ruptured thoracic aneurysm|thoracic aortic aneurysm which HAS ruptured|ruptured abdominal aortic aneurysm|thoracoabdominal aortic aneurysm, ruptured|aortic aneurysm of unspecified site, ruptured|thoracic aortic aneurysm, ruptured|ruptured aortic aneurysm		aortic aneurysm (disease)									UMLS:C0265010|ICD9:441.1|SCTID:73067008|ICD10:I71.9|ICD9:441.5|UMLS:C0003486|EFO:0001666|ICD9:441.6|HP:0004942|UMLS:C0265012|ICD10:I71.3|DOID:3627|ICD10:I71.1|MP:0006278|ICD10:I71.8|ICD9:441.3|UMLS:C0741160|UMLS:C1305122|ICD10:I71.5																		owl:Class
MONDO:0019416	biolink:NamedThing	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	mondoexuq1wtf												ICD10:Q87.8|Orphanet:85317|UMLS:CN206172																		owl:Class
MONDO:0004293	biolink:NamedThing	supraglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.	mondoexuq1wtf	squamous cell carcinoma of the supraglottis|supraglottis epidermoid carcinoma|epidermoid carcinoma of the supraglottis|squamous cell carcinoma of supraglottis|supraglottic part of larynx squamous cell carcinoma|supraglottic squamous cell carcinoma|supraglottic epidermoid carcinoma|supraglottis squamous cell carcinoma|epidermoid carcinoma of supraglottis											DOID:7587|UMLS:C0749163|NCIT:C4945																		owl:Class
MONDO:0004357	biolink:NamedThing	carcinoma of supraglottis	A carcinoma of the larynx that arises from the supraglottic area.	mondoexuq1wtf	supraglottic carcinoma|supraglottis carcinoma|carcinoma of supraglottic part of larynx|carcinoma of the supraglottis|carcinoma of supraglottis|supraglottic part of larynx carcinoma|cancer of supraglottis|supraglottic throat cancer|cancer of the supraglottis|supraglottic cancer											UMLS:C1299240|SCTID:372105009|NCIT:C5973|DOID:7763																		owl:Class
MONDO:0019951	biolink:NamedThing	rigid spine syndrome	Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.	mondoexuq1wtf	rigid spine congenital muscular dystrophy|desmin-related myopathies with Mallory bodies|rigid spine muscular dystrophy-1|muscular dystrophy, congenital, merosin positive with early spine rigidity											GARD:0004723|ICD10:G71.2|MESH:C535683|Orphanet:97244																		owl:Class
MONDO:0006903	biolink:NamedThing	peroneal nerve paralysis	Paralysis of the nerves located in the legs.	mondoexuq1wtf	nerve palsy, peroneal|peroneal nerve palsy|palsy, peroneal nerve											UMLS:C0270810|SCTID:399088004|ICD10:G57.3|NCIT:C27061|DOID:6925|MedDRA:10033828|EFO:1001102																		owl:Class
MONDO:0014404	biolink:NamedThing	Webb-Dattani syndrome		mondoexuq1wtf	WEDAS|Webb-Dattani syndrome|hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome|WEBB-Dattani syndrome											UMLS:C4014708|OMIM:615926|Orphanet:370006																		owl:Class
MONDO:0003861	biolink:NamedThing	vulvar eccrine adenocarcinoma	An eccrine adenocarcinoma that arises from the sweat glands in the vulva.	mondoexuq1wtf	mammalian vulva eccrine carcinoma|eccrine carcinoma of mammalian vulva|vulvar eccrine adenocarcinoma											UMLS:C2202743|NCIT:C40305|DOID:6339																		owl:Class
MONDO:0024240	biolink:NamedThing	eccrine carcinoma	An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.	mondoexuq1wtf	eccrine sweat gland carcinoma|eccrine carcinoma of skin|eccrine adenocarcinoma (morphologic abnormality)|carcinoma, eccrine gland, malignant|eccrine adenocarcinoma|carcinoma of eccrine sweat gland|eccrine carcinoma|eccrine sweat gland adenocarcinoma											SCTID:400173004|ICDO:8413/3|UMLS:C1707878|UMLS:C1302864|DOID:4920|UMLS:C1266066|NCIT:C27255																		owl:Class
MONDO:0030051	biolink:NamedThing	intellectual developmental disorder with autistic features and language delay, with or without seizures		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES|IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures											OMIM:618906																		owl:Class
MONDO:0032890	biolink:NamedThing	neuromuscular disease and ocular or auditory anomalies with or without seizures		mondoexuq1wtf	NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES|NMOAS											OMIM:618733																		owl:Class
MONDO:0011079	biolink:NamedThing	rhizomelic dysplasia, Patterson-Lowry type	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.	mondoexuq1wtf	rhizomelic dysplasia, Patterson-Lowry type|Patterson Lowry syndrome|Patterson-Lowry rhizomelic dysplasia|rhizomelic dysplasia Patterson Lowry type											UMLS:C1832359|Orphanet:2831|ICD10:Q78.8|SCTID:715505002|MESH:C537609|OMIM:601438|GARD:0004703														https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type				owl:Class
MONDO:0009844	biolink:NamedThing	pellagra-like syndrome		mondoexuq1wtf	pellagra-like syndrome|pellagra like syndrome|pellagra-like rash with neurologic manifestations|pellagra-like skin rash-neurological manifestations syndrome											UMLS:C1850052|MESH:C538352|GARD:0004267|Orphanet:2837|OMIM:260650														https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome				owl:Class
MONDO:0009676	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2B	Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD2B|limb-girdle muscular dystrophy, type 2B|muscular dystrophy, limb-girdle, type 2B|limb-girdle muscular dystrophy type 2B|limb-girdle muscular dystrophy type 3|muscular dystrophy, limb-girdle, type 3|limb-girdle muscular dystrophy due to dysferlin deficiency|LGMD3|DYSF autosomal recessive limb-girdle muscular dystrophy											MESH:C535899|SCTID:718179003|DOID:0110276|NCIT:C142080|GARD:0008574|ICD10:G71.0|OMIM:253601|Orphanet:268																		owl:Class
MONDO:0016145	biolink:NamedThing	qualitative or quantitative defects of dysferlin		mondoexuq1wtf	dysferlinopathy											MESH:C537995|UMLS:C2931687|GARD:0002003|Orphanet:207073|GARD:0002031																		owl:Class
MONDO:0015675	biolink:NamedThing	distomatosis	Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.	mondoexuq1wtf	distomiasis|fluke infection											ICD9:121.9|SCTID:26089000|Orphanet:1685|ICD9:121.8|GARD:0001891														https://rarediseases.info.nih.gov/diseases/1891/distomatosis				owl:Class
MONDO:0032685	biolink:NamedThing	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development		mondoexuq1wtf	CASGID|INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT											OMIM:618339																		owl:Class
MONDO:0007943	biolink:NamedThing	Nager acrofacial dysostosis	Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.	mondoexuq1wtf	AFD|acrofacial dysostosis 1, Nager type|preaxial manibulofacial dysostosis|Nager syndrome|split hand deformity-mandibulofacial dysostosis|Nager acrofacial dysostosis syndrome|AFD1|Nager acrofacial dysostosis|NAFD|preaxial acrodysostosis|AFD, Nager type|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|mandibulofacial dysostosis with preaxial limb anomalies|preaxial acrofacial dysostosis											GARD:0000498|SCTID:35520007|DOID:5768|MESH:C538184|Orphanet:245|OMIM:154400|ICD10:Q75.4|UMLS:C0265245														https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis				owl:Class
MONDO:0033482	biolink:NamedThing	spinocerebellar ataxia 47		mondoexuq1wtf	spinocerebellar ataxia 47|SCA47											OMIM:617931|UMLS:CN244564|DOID:0111743																		owl:Class
MONDO:0001287	biolink:NamedThing	endometriosis in cutaneous scar		mondoexuq1wtf	endometriosis in scar of skin|scar endometriosis											UMLS:C0156348|ICD9:617.6|SCTID:53913001|DOID:11430|COHD:139882|ICD10:N80.6																		owl:Class
MONDO:0011001	biolink:NamedThing	Brugada syndrome 1	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.	mondoexuq1wtf	BRGDA1|SCN5A Brugada syndrome|Brugada syndrome 1|Brugada syndrome caused by mutation in SCN5A|right bundle branch block, St segment elevation, and sudden death syndrome|sudden unexplained nocturnal death syndrome|Brugada syndrome type 1|Cardiac conduction defect, nonspecific											ICD10:I49.8|OMIM:601144|UMLS:CN029323|DOID:0110218																		owl:Class
MONDO:0012612	biolink:NamedThing	intellectual disability, autosomal recessive 12		mondoexuq1wtf	intellectual disability, autosomal recessive 12|mental retardation, autosomal recessive 12|MRT12|mental retardation, autosomal recessive type 12|intellectual disability, autosomal recessive type 12											MESH:C567019|OMIM:611090|UMLS:C1970200																		owl:Class
MONDO:0010980	biolink:NamedThing	midline malformations, multiple, with limb abnormalities and hypopituitarism		mondoexuq1wtf	midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy-Salih-Patel syndrome|Dincsoy syndrome											MESH:C536177|UMLS:C1832874|OMIM:601016|Orphanet:1678																		owl:Class
MONDO:0015812	biolink:NamedThing	primary cutaneous gamma/delta-positive T-cell lymphoma	Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.	mondoexuq1wtf												Orphanet:178533|ICD10:C84.4																		owl:Class
MONDO:0022109	biolink:NamedThing	catatrichy		mondoexuq1wtf	forelock											MESH:C535346|GARD:0010080|UMLS:C1861799														https://rarediseases.info.nih.gov/diseases/10080/catatrichy				owl:Class
MONDO:0032790	biolink:NamedThing	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES|NEDCFSA											OMIM:618505																		owl:Class
MONDO:0012226	biolink:NamedThing	febrile seizures, familial, 5		mondoexuq1wtf	convulsions, familial febrile, 5|FEB5|febrile seizures, familial, 5											OMIM:609255|UMLS:C1836507|DOID:0111306|MESH:C563762																		owl:Class
MONDO:0008592	biolink:NamedThing	tricho-dento-osseous syndrome	Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.	mondoexuq1wtf	TDO|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|TDO syndrome 1|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TRICHODENTOOSSEOUS syndrome|TDO syndrome|Tricho-dento-osseous syndrome 1											ICD9:759.89|MESH:C536549|ICD10:Q82.4|DOID:0111565|OMIM:190320|GARD:0007799|GARD:0005252|SCTID:38993008|Orphanet:3352														https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome				owl:Class
MONDO:0008107	biolink:NamedThing	nystagmus, hereditary vertical		mondoexuq1wtf	nystagmus, hereditary vertical|hereditary vertical nystagmus|congenital hereditary vertical nystagmus											OMIM:164150|GARD:0009604|MESH:C537857|UMLS:C1834078														https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical				owl:Class
MONDO:0013381	biolink:NamedThing	neuropathy, hereditary sensory, type 1D	A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.	mondoexuq1wtf	hereditary sensory neuropathy type 1D|hereditary sensory neuropathy type ID|HSN1D|neuropathy, hereditary sensory, type ID											UMLS:C3150972|DOID:0070156|OMIM:613708																		owl:Class
MONDO:0000414	biolink:NamedThing	childhood electroclinical syndrome	A electroclinical syndrome that occurs during childhood.	mondoexuq1wtf	electroclinical syndrome of childhood|pediatric electroclinical syndrome											DOID:0050704																		owl:Class
MONDO:0006330	biolink:NamedThing	ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.	mondoexuq1wtf	ossifying fibromyxoma|ossifying fibromyxoid neoplasm|ossifying fibromyxoid tumor (morphologic abnormality)|OFMT											UMLS:C1266128|ICDO:8842/0|NCIT:C6582|ONCOTREE:OFMT|EFO:1000408|SCTID:404076001|DOID:2685																		owl:Class
MONDO:0037745	biolink:NamedThing	fibromyxoid tumor	A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.	mondoexuq1wtf	fibromyxoma|fibromyxoma, benign|fibromyxoid tumor|fibromyxoid neoplasm											NCIT:C66760|ICDO:8811/0																		owl:Class
MONDO:0018421	biolink:NamedThing	autosomal recessive spastic paraplegia type 69		mondoexuq1wtf	SPG69											Orphanet:401830|UMLS:CN226128|ICD10:G11.4																		owl:Class
MONDO:0054695	biolink:NamedThing	myopathy, centronuclear, 6, with fiber-type disproportion		mondoexuq1wtf	CNM6|myopathy, centronuclear, 6, with FIBER-type disproportion											DOID:0111221|UMLS:C4540345|OMIM:617760																		owl:Class
MONDO:0018947	biolink:NamedThing	centronuclear myopathy	Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.	mondoexuq1wtf	myotubular myopathy|CNM|myopathy, centronuclear|myopathy, myotubular											OMIMPS:160150|SCTID:82077006|GARD:0000101|ICD10:G71.2|UMLS:C0175709|DOID:14717|Orphanet:595														https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy				owl:Class
MONDO:0009298	biolink:NamedThing	GOMBO syndrome		mondoexuq1wtf	Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia|GOMBO syndrome											OMIM:233270|GARD:0002537|MESH:C537284|UMLS:C1856274																		owl:Class
MONDO:0042975	biolink:NamedThing	pseudoachondroplastic dysplasia 2		mondoexuq1wtf	spondyloepiphyseal dysplasia pseudoachondroplastic 2|recessive pseudoachondroplasia|pseudoachondroplastic dysplasia 2											GARD:0004542|MEDGEN:418965|MESH:C535820|UMLS:C2931030																		owl:Class
MONDO:0016928	biolink:NamedThing	partial duplication of chromosome 7		mondoexuq1wtf	partial duplication of chromosome type 7|partial trisomy of chromosome 7											SCTID:726346004|Orphanet:262633																		owl:Class
MONDO:0020305	biolink:NamedThing	isochromosomy Yq	Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.	mondoexuq1wtf												ICD10:Q98.6|Orphanet:98798																		owl:Class
MONDO:0019935	biolink:NamedThing	isochromosome Y		mondoexuq1wtf	Isochromosome type Y											Orphanet:96325|ICD10:Q98.6																		owl:Class
MONDO:0013506	biolink:NamedThing	schizophrenia 16	A schizophrenia that has material basis in a mutation on chromosome 7q36.3.	mondoexuq1wtf	SCZD16|schizophrenia type 16|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia 16|schizophrenia susceptibility locus, chromosome 7Q36.3-related											DOID:0070092|OMIM:613959|UMLS:C3151408																		owl:Class
MONDO:0015296	biolink:NamedThing	cardiac anomalies-heterotaxy syndrome	Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	mondoexuq1wtf												Orphanet:137628|ICD10:Q28.8|UMLS:CN199246																		owl:Class
MONDO:0006001	biolink:NamedThing	urinary schistosomiasis	A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.	mondoexuq1wtf	Schistosoma hematobium infection|cystitis with bilharziasis|Schistosoma hematobium infectious disease|Schistosoma haematobium infection|schistosomiasis of bladder|urinary schistosomiasis|urinary bladder schistosomiasis|schistosomiasis due to Schistosoma haematobium|Schistosoma haematobium|bladder schistosomiasis|Schistosoma haematobium (& vesical schistosomiasis)|vesical schistosomiasis											DOID:1394|EFO:0007530|COHD:436350|UMLS:C1704430|ICD9:120.0|MESH:D012553|NCIT:C39294|UMLS:C0276926|SCTID:236706006																		owl:Class
MONDO:0009102	biolink:NamedThing	diaminopentanuria		mondoexuq1wtf	cystine-lysinuria|Diaminopentanuria											OMIM:222350|UMLS:C1857285|MESH:C565630																		owl:Class
MONDO:0014757	biolink:NamedThing	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		mondoexuq1wtf	TKS|Takenouchi-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome|TAKENOUCHI-Kosaki syndrome|macrothrombocytopenia and intellectual disability syndrome											OMIM:616737|UMLS:C4225222|Orphanet:487796																		owl:Class
MONDO:0002769	biolink:NamedThing	leukorrhea	Whitish or yellowish mucosal vaginal discharge.	mondoexuq1wtf	discharge - leukorrhea|leukorrhea of vagina											COHD:195873|ICD10:N89.8|MESH:D007973|DOID:3766																		owl:Class
MONDO:0018154	biolink:NamedThing	Madelung deformity	Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.	mondoexuq1wtf												ICD9:755.54|GARD:0012973|MedDRA:10007700|Orphanet:35688|SCTID:4530000|ICD10:Q74.0																		owl:Class
MONDO:0007481	biolink:NamedThing	Leri-Weill dyschondrosteosis	LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.	mondoexuq1wtf	LWD|dyschondrosteosis|Leri-Weill dyschondrosteosis|LC)ri-Weill dyschondrosteosis|Léri-Weill syndrome|LC)ri-Weill syndrome|DCo|Leri Weill dyschondrosteosis|Léri-Weill dyschondrosteosis|Madelung deformity|Leri-Weill syndrome											Orphanet:240|NCIT:C126560|OMIM:127300|ICD10:Q77.8|SCTID:17818006|ICD9:756.59|DOID:0060847|UMLS:C0265309|GARD:0003224														https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis				owl:Class
MONDO:0001105	biolink:NamedThing	renal hypertension	Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.	mondoexuq1wtf	renovascular hypertension											DOID:1073|SCTID:28119000|EFO:1002039|UMLS:C0020544|MESH:D006977																		owl:Class
MONDO:0056806	biolink:NamedThing	non-small cell squamous lung carcinoma	A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.	mondoexuq1wtf	non-small cell squamous lung cancer|non-small cell squamous lung carcinoma|squamous non-small cell lung carcinoma											SCTID:723301009|NCIT:C133254|DOID:0080521																		owl:Class
MONDO:0007192	biolink:NamedThing	beta-amino acids, renal transport of		mondoexuq1wtf	taurine renal reabsorption|AABT|BETA-amino acids, renal TRANSPORT OF											OMIM:109660|UMLS:C1862289																		owl:Class
MONDO:0007060	biolink:NamedThing	spermatogenic failure 6	Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.	mondoexuq1wtf	spermatogenic failure 6|azoospermia caused by mutation in SPATA16|SPATA16 azoospermia|spermatogenic failure type 6|globozoospermia|SPGF6|acrosome malformation of spermatozoa|spermatozoa, round-headed|round-headed spermatozoa											SCTID:236818008|DOID:0070167|OMIM:102530																		owl:Class
MONDO:0015746	biolink:NamedThing	male infertility due to globozoospermia	Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.	mondoexuq1wtf	round-headed sperm syndrome|Male infertility due to round-headed spermatozoa|male infertility due to round-headed spermatozoa|globozoospermia|male infertility due to globozoospermia											GARD:0012502|Orphanet:171709|ICD10:N46|DOID:0111156																		owl:Class
MONDO:0033967	biolink:NamedThing	immune dysregulation with inflammatory bowel disease		mondoexuq1wtf												Orphanet:529974																		owl:Class
MONDO:0008281	biolink:NamedThing	polyposis, intestinal, scattered and discrete		mondoexuq1wtf	polyposis, intestinal, scattered and discrete|polyps, scattered, discrete intestinal											UMLS:C1868006|OMIM:175400																		owl:Class
MONDO:0020167	biolink:NamedThing	malposition of external canthus		mondoexuq1wtf												Orphanet:98576|ICD10:Q10.3																		owl:Class
MONDO:0013064	biolink:NamedThing	multiple synostoses syndrome 3	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.	mondoexuq1wtf	multiple synostoses syndrome 3|FGF9 multiple synostoses syndrome|multiple synostoses syndrome caused by mutation in FGF9|SYNS3|multiple synostoses syndrome type 3											MESH:C567839|OMIM:612961|UMLS:C2751826																		owl:Class
MONDO:0017923	biolink:NamedThing	multiple synostoses syndrome	Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.	mondoexuq1wtf	deafness-Hermann type symphalangism syndrome|symphalangism-brachydactyly syndrome|facio-audio-symphalangism|WL syndrome											OMIMPS:186500|UMLS:CN204052|ICD10:Q78.8|DOID:0050794|Orphanet:3237																		owl:Class
MONDO:0022471	biolink:NamedThing	childhood aortic valve stenosis		mondoexuq1wtf	aortic valves stenosis of the child											GARD:0000744														https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child				owl:Class
MONDO:0042981	biolink:NamedThing	aortic valve stenosis		mondoexuq1wtf	aortic valve stenosis|valvular aortic stenosis|stenosed aortic valve|aortic stenosis											GARD:0005830|HP:0001650|SCTID:60573004																		owl:Class
MONDO:0018541	biolink:NamedThing	familial hypoaldosteronism	Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).	mondoexuq1wtf												UMLS:CN205074|UMLS:C4275180|Orphanet:427|SCTID:715343000|ICD10:E27.4																		owl:Class
MONDO:0015900	biolink:NamedThing	hypoaldosteronism disease		mondoexuq1wtf	rare hypoaldosteronism|hypoaldosteronism					Editor note: we place the GARD class here as it is implicitly rare						ICD10:E27.4|SCTID:60086000|UMLS:C0020595|MESH:D006994|Orphanet:181419|GARD:0002874																		owl:Class
MONDO:0013661	biolink:NamedThing	combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	mondoexuq1wtf	combined malonic and methylmalonic aciduria|CMAMMA											DOID:0111263|UMLS:C3280314|ICD10:E71.1|Orphanet:289504|OMIM:614265|MESH:C580002|GARD:0010818|SCTID:702365002																		owl:Class
MONDO:0002012	biolink:NamedThing	methylmalonic acidemia	A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.	mondoexuq1wtf	METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B|methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic aciduria mut type|methylmalonic acidemia, cblB type|methylmalonic aciduria cblB type|methylmalonic aciduria type cblB|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria|methylmalonic aciduria, mut type											DOID:14749|ICD10:E71.120|GARD:0007033|SCTID:42393006|ICD9:270.7|NCIT:C98986|UMLS:C0268583|UMLS:C1855119																		owl:Class
MONDO:0014563	biolink:NamedThing	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency		mondoexuq1wtf	ECHS1D|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency											OMIM:616277|UMLS:C4225391|GARD:0013019																		owl:Class
MONDO:0016815	biolink:NamedThing	Leigh syndrome with leukodystrophy		mondoexuq1wtf	Leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy											ICD10:G31.8|UMLS:CN202083|Orphanet:255241																		owl:Class
MONDO:0001822	biolink:NamedThing	hypolipoproteinemia	Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).	mondoexuq1wtf	hypolipoproteinemia|hypolipoproteinemia (disease)|hypolipoproteinaemia|lipoprotein deficiencies		hypolipoproteinemia (disease)									ICD9:272.5|SCTID:363140000|GARD:0008394|ICD10:E78.6|HP:0010981|MESH:D007009|DOID:1387																		owl:Class
MONDO:0010992	biolink:NamedThing	Ayme-Gripp syndrome		mondoexuq1wtf	Ayme-Gripp syndrome|AYGRP|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|AYME-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|Aymé-Gripp syndrome											DOID:0111688|OMIM:601088|UMLS:C1832812|EFO:0009020|MESH:C563390|Orphanet:477668																		owl:Class
MONDO:0019101	biolink:NamedThing	retinal capillary malformation	Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.	mondoexuq1wtf												Orphanet:71213|ICD10:D18.0																		owl:Class
MONDO:0020696	biolink:NamedThing	vitamin B12 deficiency	A disease characterized by low serum levels of vitamin B12, either inherited or acquired.	mondoexuq1wtf	cobalamin deficiency|hypocobalaminemia|vitamin b12 deficiency											SCTID:190634004|ICD9:266.2|MESH:D014806|HP:0100502|NCIT:C131684|UMLS:C0042847																		owl:Class
MONDO:0003262	biolink:NamedThing	rhabdoid meningioma	A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.	mondoexuq1wtf	rhabdoid meningioma|meningioma, rhabdoid (morphologic abnormality)|papillary meningioma (morphologic abnormality)|papillary meningioma|meningioma, rhabdoid											UMLS:C0259786|DOID:5058|NCIT:C6909|ONCOTREE:RHM																		owl:Class
MONDO:0020770	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3		mondoexuq1wtf	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3|SCAN3											OMIM:618387																		owl:Class
MONDO:0024292	biolink:NamedThing	gastrointestinal polyp	A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.	mondoexuq1wtf	GI polyp|gastrointestinal polyp|gastrointestinal tract polyp											UMLS:C0744333|NCIT:C35516																		owl:Class
MONDO:0010629	biolink:NamedThing	impacted teeth, multiple		mondoexuq1wtf	impacted teeth, multiple											OMIM:308280																		owl:Class
MONDO:0011527	biolink:NamedThing	Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	mondoexuq1wtf	neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|Charcot-Marie-Tooth disease type 4E|hypomyelination, Severe congenital|CHN1|neuropathy, congenital hypomyelinating, autosomal dominant|neuropathy, congenital hypomyelinating, 1|congenital hypomyelination neuropathy|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|Charcot-Marie-Tooth neuropathy type 4E|CHN|neuropathy, congenital hypomyelinating|Charcot Marie Tooth disease type 4E|Charcot-Marie-Tooth neuropathy, type 4E|congenital hypomyelinating neuropathy (CHN)|autosomal recessive congenital hypomyelinating neuropathy|Charcot-Marie-Tooth disease, type 4E|CMT 4E|CMT4E					Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E.						DOID:0110195|SCTID:763135001|Orphanet:99951|MESH:C535301|ICD10:G60.0|GARD:0006170|OMIM:605253|GARD:0009203														https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy				owl:Class
MONDO:0033352	biolink:NamedThing	neuropathy, congenital hypomelinating		mondoexuq1wtf	CHN											OMIMPS:605253																		owl:Class
MONDO:0011876	biolink:NamedThing	juvenile absence epilepsy	Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.	mondoexuq1wtf	JAE|susceptibility to juvenile absence epilepsy 1|epilepsy, juvenile absence, susceptibility to, 1|EJA1|epilepsy juvenile absence|epilepsy, juvenile absence, susceptibility to, type 1											DOID:0060172|SCTID:230413002|GARD:0002162|UMLS:C4317339|OMIMPS:607631|Orphanet:1941|ICD10:G40.3|NCIT:C129868																		owl:Class
MONDO:0100030	biolink:NamedThing	adolescent/adult-onset epilepsy syndrome	An epilepsy syndrome that has an onset during the adolescent or adult stage of life.	mondoexuq1wtf					2018-06-23 01:43:18+00:00	This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						http://orcid.org/0000-0001-8486-0558														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0100107	biolink:NamedThing	non-neonatal early infantile epileptic encephalopathy	Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.	mondoexuq1wtf																														owl:Class
MONDO:0005551	biolink:NamedThing	eye allergy	An allergic disease involving a pathogenic inflammatory response in the camera-type eye.	mondoexuq1wtf												EFO:0005751																		owl:Class
MONDO:0016524	biolink:NamedThing	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood	mondoexuq1wtf						Editor note: see https://github.com/monarch-initiative/mondo/issues/114						Orphanet:235832																		owl:Class
MONDO:0008046	biolink:NamedThing	autosomal dominant myoglobinuria	Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	mondoexuq1wtf	myoglobinuria, autosomal dominant											OMIM:160010|ICD10:R82.1|Orphanet:99846|UMLS:C1834567|MESH:C563546|SCTID:725903003																		owl:Class
MONDO:0016117	biolink:NamedThing	muscular lipidosis		mondoexuq1wtf	lipid storage myopathy											Orphanet:206953|UMLS:C0410214|SCTID:240095001|ICD9:359.89																		owl:Class
MONDO:0007201	biolink:NamedThing	blepharophimosis, ptosis, and epicanthus inversus syndrome	Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).	mondoexuq1wtf	blepharophimosis syndrome type 1|BPES, type I, autosomal recessive|BPES, type 1|blepharophimosis types 1 and 2|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES with Duane retraction syndrome|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|BPES|blepharophimosis, ptosis, epicanthus inversus syndrome|BPES without ovarian failure|BPES with premature ovarian failure|blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|BPES, type 2|BPES type 1|BPES with ovarian failure|blepharophimosis, ptosis, and epicanthus inversus											UMLS:C0220663|MESH:C562419|ICD10:Q10.3|DOID:14778|SCTID:715391004|OMIM:110100|Orphanet:126|GARD:0000023																		owl:Class
MONDO:0010292	biolink:NamedThing	Uruguay Faciocardiomusculoskeletal syndrome		mondoexuq1wtf	faciocardiomusculoskeletal syndrome, Uruguay type|FCMSU|Fcms|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome|Uruguay Faciocardiomusculoskeletal syndrome											MESH:C564544|UMLS:C1846010|OMIM:300280																		owl:Class
MONDO:0007129	biolink:NamedThing	tooth agenesis, selective, 1	Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene.	mondoexuq1wtf	MSX1 tooth agenesis|hypodontia/oligodontia 1|hypodontia/oligodontia with orofacial cleft|second premolars and third molars, absence of|tooth agenesis caused by mutation in MSX1|STHAG1|tooth agenesis, selective, type 1|tooth agenesis, selective, with orofacial cleft|tooth agenesis, selective, 1|tooth agenesis, familial											OMIM:106600																		owl:Class
MONDO:0001215	biolink:NamedThing	allescheriosis	A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.	mondoexuq1wtf	Petriellidosis											ICD10:B48.2|UMLS:C0153285|ICD9:117.6|SCTID:80936003|DOID:11186																		owl:Class
MONDO:0000308	biolink:NamedThing	primary systemic mycosis	A systemic mycosis that arises from infection in an immunologically normal host.	mondoexuq1wtf												DOID:0050292																		owl:Class
MONDO:0012251	biolink:NamedThing	MEDNIK syndrome	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).	mondoexuq1wtf	erythrokeratodermia variabilis, Kamouraska type|MEDNIK|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|erythrokeratodermia variabilis 3|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia											UMLS:C1836330|MESH:C563739|Orphanet:171851|UMLS:CN229776|DOID:0060483|SCTID:722035007|OMIM:609313																		owl:Class
MONDO:0030911	biolink:NamedThing	intellectual disability, autosomal dominant 46		mondoexuq1wtf	autosomal dominant intellectual disability 46|mental retardation, autosomal dominant 46|intellectual disability, autosomal dominant 46|MRD46|autosomal dominant mental retardation 46											DOID:0080237|OMIM:617601|UMLS:CN371052																		owl:Class
MONDO:0004274	biolink:NamedThing	mixed epithelial/mesenchymal metaplastic breast carcinoma	An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.	mondoexuq1wtf	mixed type metaplastic breast cancer|breast carcinosarcoma											NCIT:C40364|ONCOTREE:MMBC|UMLS:C1513365|DOID:7541																		owl:Class
MONDO:0006043	biolink:NamedThing	metaplastic breast carcinoma	A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.	mondoexuq1wtf	metaplastic carcinoma of the breast|metaplastic breast carcinoma|breast metaplastic carcinoma|metaplastic breast cancer|metaplastic carcinoma of breast											ICD10:C50.3|ICD10:C50.0|DOID:4680|GARD:0010804|ICD10:C50.5|ICD10:C50.1|UMLS:C1334708|ICD10:C50.2|ICD10:C50.8|SCTID:763479005|ICD10:C50.6|ICD10:C50.4|Orphanet:213531|NCIT:C5164|EFO:1000040|ONCOTREE:MBC																		owl:Class
MONDO:0003311	biolink:NamedThing	endometrial stromal tumor	Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).	mondoexuq1wtf	tumor of endometrial stroma|endometrial stroma tumor|endometrial stromal tumor|endometrial stroma neoplasm|endometrial stromal neoplasm|endometrial stromal tumor (morphologic abnormality)|neoplasm of endometrial stroma											SCTID:446887007|MESH:D036821|UMLS:C0334695|EFO:1000920|DOID:5166|ICD9:239.5																		owl:Class
MONDO:0021251	biolink:NamedThing	endometrium neoplasm	A neoplasm (disease) that involves the endometrium.	mondoexuq1wtf	endometrium neoplasm (disease)|neoplasm of the endometrium|tumor of the endometrium|neoplasm of endometrium|endometrial tumor|endometrium tumor|tumor of endometrium|endometrial neoplasm											ICD9:239.5|NCIT:C3012|SCTID:123844007|MESH:D016889																		owl:Class
MONDO:0010864	biolink:NamedThing	type 1 diabetes mellitus 7	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.	mondoexuq1wtf	insulin-dependent diabetes mellitus 7|diabetes mellitus, insulin-dependent, 7|IDDM7											OMIM:600321|ICD10:E10|MESH:C563957|UMLS:C1838259|DOID:0110746																		owl:Class
MONDO:0008121	biolink:NamedThing	onychogryposis, pedal, with keratosis plantaris and coarse hair		mondoexuq1wtf	onychogryposis, pedal, with keratosis plantaris and coarse hair											MESH:C563506|UMLS:C1833997|OMIM:164680																		owl:Class
MONDO:0015180	biolink:NamedThing	intestinal disease due to fat malabsorption		mondoexuq1wtf												UMLS:CN197522|Orphanet:104005																		owl:Class
MONDO:0018920	biolink:NamedThing	peripartum cardiomyopathy	Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.	mondoexuq1wtf	Meadows' syndrome|postpartum cardiomyopathy|postpartum peripartum cardiomyopathy|antepartum peripartum cardiomyopathy|peripartum cardiomyopathy											MedDRA:10049430|ICD9:674.5|ICD10:O90.3|GARD:0000220|ICD9:674.54|EFO:0002628|UMLS:C0269972|Orphanet:563|DOID:9997|COHD:312383|SCTID:62377009																		owl:Class
MONDO:0016338	biolink:NamedThing	non-familial dilated cardiomyopathy		mondoexuq1wtf												Orphanet:217629|UMLS:CN226906																		owl:Class
MONDO:0007674	biolink:NamedThing	glucose-6-phosphate dehydrogenase-like		mondoexuq1wtf	G6PDL|glucose-6-phosphate dehydrogenase-like											OMIM:138110																		owl:Class
MONDO:0014033	biolink:NamedThing	dystonia 25	Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.	mondoexuq1wtf	GNAL dystonic disorder|dystonia 25|DYT25|autosomal dominant focal dystonia, DYT25 type|dystonia type 25|dystonic disorder caused by mutation in GNAL											OMIM:615073|Orphanet:329466|ICD10:G24.1|DOID:0090055|UMLS:C3554447																		owl:Class
MONDO:0014187	biolink:NamedThing	aortic aneurysm, familial thoracic 8	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.	mondoexuq1wtf	familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic 8|aortic aneurysm, familial thoracic type 8|AAT8|PRKG1 familial thoracic aortic aneurysm and aortic dissection											UMLS:C3809513|OMIM:615436																		owl:Class
MONDO:0000940	biolink:NamedThing	trypanosomiasis	Infection with protozoa of the genus trypanosoma.	mondoexuq1wtf	Trypanosoma disease or disorder|Trypanosomiases|Trypanosoma infectious disease|Trypanosoma caused disease or disorder											DOID:10113|SCTID:78940002|ICD10:B56|ICD9:086.9|ICD9:086|MESH:D014352|ICD10:B57.2|UMLS:C0041227																		owl:Class
MONDO:0000240	biolink:NamedThing	invasive aspergillosis	An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.	mondoexuq1wtf												SCTID:721798004|UMLS:C0238013|DOID:0050073																		owl:Class
MONDO:0000266	biolink:NamedThing	pulmonary aspergilloma	A aspergillosis that involves the lung.	mondoexuq1wtf	lung aspergillosis											MESH:D055732|DOID:0050153|UMLS:C2350529																		owl:Class
MONDO:0005534	biolink:NamedThing	ileocolitis	Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.	mondoexuq1wtf												UMLS:C0949272|MedDRA:10062647|ICD10:K52.9|EFO:0005624|DOID:0060190																		owl:Class
MONDO:0000709	biolink:NamedThing	Crohn ileitis	An Crohn disease involving a pathogenic inflammatory response in the ileum.	mondoexuq1wtf	ileitis|Crohn's ileitis											SCTID:52457000|ICD10:K52.9|MESH:D007079|CSP:1248-5305|DOID:0060189|MedDRA:10021312|NDFRT:N0000001662|ICD9:558.9|UMLS:C0020877|NCIT:C35329																		owl:Class
MONDO:0014049	biolink:NamedThing	urofacial syndrome 2	Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.	mondoexuq1wtf	UFS2|LRIG2 Ochoa syndrome|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome 2|urofacial syndrome type 2											UMLS:C3554520|OMIM:615112																		owl:Class
MONDO:0000642	biolink:NamedThing	brain meningioma	A meningioma (disease) that involves the brain.	mondoexuq1wtf	brain meningioma (disease)|meningioma (disease) of brain					Editor note: TODO check						DOID:0060106																		owl:Class
MONDO:0019260	biolink:NamedThing	adult neuronal ceroid lipofuscinosis	Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.	mondoexuq1wtf	neuronal ceroid lipofuscinosis of adults|ANCL|neuronal ceroid lipofuscinosis 4|Kufs disease|adult NCL|Kuf's disease|CLN4 disease, adult autosomal dominant											UMLS:CN205864|ICD10:E75.4|UMLS:C0022797|GARD:0010973|Orphanet:79262|SCTID:62009002														https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis				owl:Class
MONDO:0009043	biolink:NamedThing	generalized resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.	mondoexuq1wtf	deafness-thyroid hormone resistance syndrome|Refetoff syndrome|GRTH											Orphanet:3221|ICD10:E07.8																		owl:Class
MONDO:0001339	biolink:NamedThing	portal vein thrombosis	The formation of a blood clot (thrombus) in the portal vein.	mondoexuq1wtf	thrombotic disease of portal vein|portal vein thrombotic disease											ICD10:I81|DOID:11695|UMLS:C0155773|ICD9:452|SCTID:17920008|NCIT:C78565|COHD:199837																		owl:Class
MONDO:0004851	biolink:NamedThing	toxic myocarditis		mondoexuq1wtf												UMLS:C0155691|ICD9:422.93|DOID:9694|SCTID:31993003																		owl:Class
MONDO:0002815	biolink:NamedThing	acute myocarditis	The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.	mondoexuq1wtf	myocarditis, acute											ICD10:I40.9|COHD:312653|DOID:3951|UMLS:C0155686|SCTID:46701001|NCIT:C35206|ICD9:422|ICD9:422.99|ICD9:422.90|ICD10:I40																		owl:Class
MONDO:0005055	biolink:NamedThing	Kaposi's sarcoma	A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).	mondoexuq1wtf	Kaposi's sarcoma of palate|Kaposi's sarcoma of esophagus|Kaposi's sarcoma of central nervous system|palate Kaposi's sarcoma|KSHV|Kaposi's sarcoma of skin|non AIDS related Kaposi sarcoma|Kaposi's sarcoma of soft tissues|Mediterranean Kaposi sarcoma|Kaposi's sarcoma of conjunctiva|lymph node Kaposi's sarcoma|HHV8|multiple hemorrhagic sarcoma|corneal Kaposi's sarcoma|anal Kaposi's sarcoma|KS|Kaposi's sarcoma of gastrointestinal sites|cardiac Kaposi's sarcoma|penis Kaposi's sarcoma|Kaposi's sarcoma of the prostate|Kaposi's sarcoma|cutaneous Kaposi's sarcoma|Kaposi's sarcoma (disease)|African lymphadenopathic Kaposi's sarcoma|human herpesvirus 8|Kaposi's sarcoma of lung|Kaposi sarcoma herpesvirus|Kaposi's sarcoma of anus|Kaposi's sarcoma of the CNS|Kaposi's sarcoma of cornea|Kaposi's sarcoma, skin|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of heart|Kaposi sarcoma|pulmonary Kaposi's sarcoma|prostate Kaposi's sarcoma|Kaposi's sarcoma of penis|Kaposi's sarcoma of soft tissue|gallbladder Kaposi's sarcoma|conjunctival Kaposi's sarcoma|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of lymph nodes|esophageal Kaposi's sarcoma|lymphadenopathic Kaposi's sarcoma|Kaposi's sarcoma, lung|gastric Kaposi's sarcoma|intestinal Kaposi's sarcoma|Kaposi's sarcoma of the gallbladder|central nervous system Kaposi's sarcoma		Kaposi's sarcoma (disease)									ICD10:C46.2|ICD10:C46.7|COHD:434584|ICD10:C46.9|ICD10:C46.8|Orphanet:33276|GARD:0006814|MESH:D012514|EFO:0000558|MedDRA:10023284|SCTID:109385007|ICD9:176.9|ICD10:C46.0|ICD9:176|ICD9:176.8|ICDO:9140/3|ICD10:C46.1|HP:0100726|DOID:8632|ICD10:C46.3|NCIT:C9087																		owl:Class
MONDO:0015157	biolink:NamedThing	human herpesvirus 8-related tumor		mondoexuq1wtf	HHV-8-related disorder					Editor note: TODO check this						Orphanet:102024|UMLS:CN226610																		owl:Class
MONDO:0012025	biolink:NamedThing	branchiootic syndrome 3	Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.	mondoexuq1wtf	BOS3|branchiootic syndrome type 3|branchiootic syndrome 3|bo syndrome 3|branchiootic syndrome caused by mutation in SIX1|SIX1 branchiootic syndrome											MESH:C564248|OMIM:608389|UMLS:C1842124																		owl:Class
MONDO:0016573	biolink:NamedThing	acute fatty liver of pregnancy	Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	mondoexuq1wtf	AFLP|acute fatty liver, gestational											MedDRA:10000746|Orphanet:243367|ICD10:O26.6|UMLS:C1455728|MESH:C537957|SCTID:716379000|GARD:0009578														https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy				owl:Class
MONDO:0044625	biolink:NamedThing	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation		mondoexuq1wtf	CMT2 due to DGAT2 mutation											Orphanet:487814																		owl:Class
MONDO:0006761	biolink:NamedThing	fibromuscular dysplasia	A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.	mondoexuq1wtf	fibromuscular dysplasia of arteries|FMDA|fibromuscular dysplasia											NCIT:C84714|UMLS:C1851111|MESH:C537929|MedDRA:10054794|MESH:D005352|OMIM:135580|EFO:1000938																		owl:Class
MONDO:0006983	biolink:NamedThing	subclavian steal syndrome	An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.	mondoexuq1wtf	subclavian artery stenosis|subclavian steal steno-occlusive disease|subclavian steal phenomenon											MedDRA:10042335|EFO:1001195|DOID:13002|NCIT:C35044|ICD9:435.2|MESH:D013349|UMLS:C0038531|SCTID:15258001|COHD:433505																		owl:Class
MONDO:0022518	biolink:NamedThing	autoimmune inner ear disease	A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.	mondoexuq1wtf	AIED											GARD:0008582																		owl:Class
MONDO:0044655	biolink:NamedThing	c12orf65-related combined oxidative phosphorylation defect		mondoexuq1wtf	C12ORF65-related COXPD											Orphanet:497623																		owl:Class
MONDO:0014145	biolink:NamedThing	Leber congenital amaurosis 17	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.	mondoexuq1wtf	LCA17|Leber congenital amaurosis caused by mutation in GDF6|Leber congenital amaurosis 17|GDF6 Leber congenital amaurosis|Leber congenital amaurosis type 17											UMLS:C3715164|OMIM:615360|ICD10:H35.5|DOID:0110217																		owl:Class
MONDO:0018998	biolink:NamedThing	Leber congenital amaurosis	Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.	mondoexuq1wtf	Leber's disease|Leber's amaurosis|amaurosis congenita of Leber|Leber's congenital amaurosis|congenital absence of the rods and cones|congenital retinal blindness|Leber's congenital tapetoretinal degeneration|LCA|Leber's congenital tapetoretinal dysplasia											Orphanet:65|GARD:0000634|ICD10:H35.5|MESH:D057130|SCTID:193413001|NCIT:C129075|OMIMPS:204000|DOID:14791|UMLS:C0339527|MedDRA:10070667																		owl:Class
MONDO:0003194	biolink:NamedThing	hemangioma of lung	A hemangioma that involves the lung.	mondoexuq1wtf	pulmonary hemangioma|lung hemangioma											DOID:490																		owl:Class
MONDO:0002732	biolink:NamedThing	lung benign neoplasm	A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.	mondoexuq1wtf	benign tumor of lung|benign lung neoplasm|benign lung tumor|benign neoplasm of lung|benign tumor of the lung|tumor of the lung|lung benign neoplasm|benign neoplasm of the lung											NCIT:C4454|DOID:3683																		owl:Class
MONDO:0014666	biolink:NamedThing	hypomyelinating leukodystrophy 11	Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.	mondoexuq1wtf	leukodystrophy, hypomyelinating, 11|leukodystrophy caused by mutation in POLR1C|HLD11|leukodystrophy, hypomyelinating, type 11|hypomyelinating leukodystrophy type 11|POLR1C leukodystrophy											OMIM:616494|ICD10:G11.1|UMLS:C4225305|DOID:0060792																		owl:Class
MONDO:0019505	biolink:NamedThing	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.	mondoexuq1wtf	4H syndrome											Orphanet:88637|ICD10:G11.1|UMLS:CN206304																		owl:Class
MONDO:0008019	biolink:NamedThing	mullerian aplasia and hyperandrogenism	Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.	mondoexuq1wtf	WNT4 deficiency|Müllerian aplasia and hyperandrogenism|mullerian aplasia and hyperandrogenism|Mullerian duct failure and hyperandrogenism|Müllerian duct failure and hyperandrogenism											UMLS:C2675014|MESH:C567186|DOID:0111526|OMIM:158330|Orphanet:247768|NCIT:C120376|ICD10:Q51.8																		owl:Class
MONDO:0007499	biolink:NamedThing	ear folding		mondoexuq1wtf	ear folding											OMIM:128500																		owl:Class
MONDO:0014671	biolink:NamedThing	neuropathy, hereditary motor and sensory, type 6B	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.	mondoexuq1wtf	SLC25A46 hereditary motor and sensory neuropathy type 6|neuropathy, hereditary motor and sensory, type VIB|HMSN 6B|CMT6B|HMSN6B|Charcot-Marie-Tooth disease, type 6B|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46											OMIM:616505|EFO:0009075|UMLS:C4225302																		owl:Class
MONDO:0002745	biolink:NamedThing	fallopian tube mucinous tumor	A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	mondoexuq1wtf	fallopian tube mucinous neoplasm|fallopian tube mucinous tumor											DOID:3705|NCIT:C40109|UMLS:C1517120																		owl:Class
MONDO:0021092	biolink:NamedThing	fallopian tube neoplasm	A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.	mondoexuq1wtf	tumor of the fallopian tube|neoplasm of the fallopian tube|fallopian tube tumor|tumor of fallopian tube|neoplasm of fallopian tube|fallopian tube neoplasm|fallopian tube neoplasm (disease)											NCIT:C3032|SCTID:126916003|UMLS:C0015558|ICD9:239.5																		owl:Class
MONDO:0009932	biolink:NamedThing	pulmonary bullae causing pneumothorax		mondoexuq1wtf	pulmonary bullae causing pneumothorax											UMLS:C1849566|MESH:C564863|OMIM:265200																		owl:Class
MONDO:0006620	biolink:NamedThing	vulva fibroepithelial polyp	A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.	mondoexuq1wtf	fibroepithelial polyp of the vulva|vulvar fibroepithelial stromal polyp|skin tag of mammalian vulva|vulval fibroepithelial polyp|fibroepithelial polyp of vulva|mammalian vulva skin tag|vulvar fibroepithelial polyp											EFO:1000777|UMLS:C1336978|DOID:8255|NCIT:C6857																		owl:Class
MONDO:0060765	biolink:NamedThing	fibroepithelial polyp	A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.	mondoexuq1wtf	fibropapilloma, benign|fibroepithelial polyp											NCIT:C3337																		owl:Class
MONDO:0044326	biolink:NamedThing	developmental delay and seizures with or without movement abnormalities	DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).	mondoexuq1wtf	DEDSM|developmental delay and seizures with or without movement abnormalities											UMLS:CN769090|OMIM:617836|DOID:0080473																		owl:Class
MONDO:0021839	biolink:NamedThing	spirochaetales infections	Infections with bacteria of the order SPIROCHAETALES.	mondoexuq1wtf	Spirochaetales Infection|Infections, Spirochaetales|SPIROCHETE INFECT|Infection, Spirochete|Spirochete Infection|INFECT SPIROCHAETALES|Spirochetosis|Infections, Spirochete|Spirochetal infection|INFECT SPIROCHETE|Spirochete Infections|Spirochaetales Infections|Infection, Spirochaetales|SPIROCHAETALES INFECT											UMLS:C0037974|MESH:D013145|GARD:0007682																		owl:Class
MONDO:0000225	biolink:NamedThing	human monocytic ehrlichiosis	A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.	mondoexuq1wtf	Human ehrlichial infection, human monocytic type|human ehrlichiosis due to Ehrlichia chaffeensis|human ehrlichiosis caused by Ehrlichia chaffeensis|ehrlichiosis chafeensis|HME											DOID:0050026|UMLS:C1282983|ICD9:082.41|SCTID:359747000|GARD:0000072														https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis				owl:Class
MONDO:0012248	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2K	Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|limb-girdle muscular dystrophy - intellectual disability|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|LGMD2K|limb-girdle muscular dystrophy type 2K|LGMD-POMT1 related|muscular dystrophy, limb-girdle, type 2K|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|muscular dystrophy limb-girdle type 2K|limb-girdle muscular dystrophy-intellectual disability syndrome|POMT1 autosomal recessive limb-girdle muscular dystrophy|MDDGC1											Orphanet:86812|NCIT:C133730|DOID:0110297|EFO:0009145|OMIM:609308|GARD:0012535|SCTID:720523006|ICD10:G71.0																		owl:Class
MONDO:0700068	biolink:NamedThing	myopathy caused by varation in POMGNT1	Any myopathy in which the cause of the disease is a varation in the POMGNT1 gene.	mondoexuq1wtf	myopathy caused by mutation in POMGNT1|POMGNT1 myopathy|POMGNT1-related myopathy							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0001641	biolink:NamedThing	severe pre-eclampsia	Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.	mondoexuq1wtf	severe preeclampsia|postpartum severe pre-eclampsia|antepartum severe pre-eclampsia|Preeclampsia with severe features|severe pre-eclampsia, with delivery											DOID:13129|COHD:433536|ICD9:642.50|NCIT:C112843																		owl:Class
MONDO:0010493	biolink:NamedThing	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.	mondoexuq1wtf	Diamond-Blackfan anemia caused by mutation in TSR2|DBA14|TSR2 Diamond-Blackfan anemia|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis											UMLS:C4225422|OMIM:300946																		owl:Class
MONDO:0011933	biolink:NamedThing	ALG2-CDG	A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	mondoexuq1wtf	ALG2-CDG (CDG-II)|carbohydrate deficient glycoprotein syndrome type II|CDG II|carbohydrate-deficient glycoprotein syndrome type 1I|congenital disorder of glycosylation type II|CDG-II|CDG 1I|mannosyltransferase 2 deficiency|CDG1I|congenital disorder of glycosylation type 1i|CDG syndrome type II|congenital disorder of glycosylation, type II											Orphanet:79326|ICD10:E77.8|GARD:0009836|OMIM:607906|DOID:0080561																		owl:Class
MONDO:0032918	biolink:NamedThing	developmental and epileptic encephalopathy, 84		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84|DEE84|epileptic encephalopathy, early infantile, 84|EIEE84|Jamuar Syndrome											OMIM:618792																		owl:Class
MONDO:0012674	biolink:NamedThing	age related macular degeneration 10	Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.	mondoexuq1wtf	TLR4 age-related macular degeneration|macular degeneration, age-related, 10|age related macular degeneration type 10|age-related macular degeneration caused by mutation in TLR4|macular Degeneration, age-related, type 10|ARMD10											DOID:0110022|MESH:C566935|UMLS:C1969108|OMIM:611488																		owl:Class
MONDO:0012260	biolink:NamedThing	cataract 35	A cataract that has material basis in variation in the region 19q13.	mondoexuq1wtf	autosomal recessive congenital nuclear cataract 1|cataract 35|CTRCT35|CATCN1|cataract, congenital nuclear, autosomal recessive 1|cataract type 35|cataract 35, congenital nuclear											OMIM:609376|UMLS:C1836272|ICD10:Q12.0|DOID:0110261|MESH:C563728																		owl:Class
MONDO:0012747	biolink:NamedThing	glycogen storage disease due to aldolase A deficiency	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.	mondoexuq1wtf	Red cell aldolase deficiency|glycogenosis type 12|glycogen storage disease type 12|GSD due to aldolase A deficiency|aldolase deficiency, Red cell|glycogen storage disease type XII|GSD type 12|aldolase deficiency red cell|GSD type XII|Aldoa deficiency|aldolase a deficiency|glycogenosis due to aldolase A deficiency|GSD 12|GSD12|glycogen storage disease XII|glycogen storage disease 12|glycogenosis type XII											GARD:0000600|ICD9:282.3|SCTID:111578003|Orphanet:57|MESH:C562718|OMIM:611881|UMLS:C0272066|ICD10:E74.0																		owl:Class
MONDO:0017688	biolink:NamedThing	disorder of glycolysis		mondoexuq1wtf												UMLS:CN227176|Orphanet:308459																		owl:Class
MONDO:0011676	biolink:NamedThing	PHACE syndrome	PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.	mondoexuq1wtf	Phaces association|aortic aneurysm, giant congenital|pascual-Castroviejo type II syndrome|pascual-Castroviejo syndrome type 2|PHACE association|P-CIIS|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities											UMLS:C1847874|ICD10:Q28.8|GARD:0008338|MedDRA:10068032|Orphanet:42775|OMIM:606519																		owl:Class
MONDO:0007071	biolink:NamedThing	adrenocortical hypofunction, chronic primary congenital		mondoexuq1wtf	adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital											OMIM:103230|UMLS:C0271740|MESH:C562711|ICD9:255.41|SCTID:12427005																		owl:Class
MONDO:0009410	biolink:NamedThing	Addison disease	Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).	mondoexuq1wtf	adrenal aplasia|autoimmune primary adrenal insufficiency|Addison disease, chronic adrenal insufficiency|adrenal gland hypofunction|hypoadrenocorticism familial|autoimmune Addison's disease|primary hypoadrenalism|hypoadrenocorticism, familial|primary Addison's disease|Addison disease|adrenal hypoplasia|Addison's disease|primary adrenocortical insufficiency|autoimmune Addison disease|autoimmune adrenalitis|classic Addison's disease											COHD:4160059|NCIT:C113814|DOID:13774|GARD:0005740|UMLS:C0271737|Orphanet:85138|ICD9:255.41|OMIM:240200|ICD10:E27.1|SCTID:373662000|MedDRA:10001130																		owl:Class
MONDO:0018212	biolink:NamedThing	familial cervical artery dissection	An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	familial CAD|hereditary cervical artery dissection|hereditary CAD											UMLS:CN204734|Orphanet:36382|ICD10:I72.0|ICD10:I72.5																		owl:Class
MONDO:0006061	biolink:NamedThing	cervical artery dissection	A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.	mondoexuq1wtf												EFO:1000059																		owl:Class
MONDO:0020552	biolink:NamedThing	placental site trophoblastic tumor	Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.	mondoexuq1wtf	placental site gestational trophoblastic tumor|placental site trophoblastic tumor (morphologic abnormality)|PSST|placental-site gestational trophoblastic neoplasm|placental site trophoblastic tumor|placental-site gestational trophoblastic tumor|placental-site GTT											UMLS:C0206666|ICDO:9104/1|SCTID:237252008|MESH:D018245|ICD10:D39.2|NCIT:C3757|ONCOTREE:PSTT|EFO:1001111|DOID:3596|Orphanet:99928																		owl:Class
MONDO:0010072	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal recessive	Autosomal recessive form of spondyloepiphyseal dysplasia tarda.	mondoexuq1wtf	autosomal recessive spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal recessive											OMIM:271600|MESH:C564797|UMLS:C1849054																		owl:Class
MONDO:0000386	biolink:NamedThing	digestive system neuroendocrine tumor, grade 1/2	A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.	mondoexuq1wtf	alimentary part of gastrointestinal system neuroendocrine tumor|GINET|Gastroenteropancreatic NET|digestive system well differentiated Neuroendocrine tumor|gastrointestinal system neuroendocrine tumor|digestive system NET|Gastroenteropancreatic Neuroendocrine tumor|gastrointestinal neuroendocrine tumor|digestive system neuroendocrine tumor|gastrointestinal neuroendocrine tumors|gastrointestinal NET|malignant gastrointestinal neuroendocrine tumor											UMLS:C2987127|DOID:0050626|ONCOTREE:GINET|NCIT:C95404																		owl:Class
MONDO:0011298	biolink:NamedThing	schizophrenia 8	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.	mondoexuq1wtf	SCZD8|schizophrenia susceptibility locus, chromosome 18-related|schizophrenia 8|schizophrenia 8 with or without an affective disorder											UMLS:C1864124|OMIM:603206|DOID:0070084																		owl:Class
MONDO:0008272	biolink:NamedThing	polysyndactyly 4	Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.	mondoexuq1wtf	polysyndactyly uncomplicated|polysyndactyly, uncomplicated|polydactyly, preaxial IV|preaxial polydactyly 4|preaxial polydactyly type 4|polydactyly, preaxial type 4|polydactyly preaxial 4|PPD4|crossed polydactyly, type 1|polydactyly, preaxial 4|crossed polydactyly type 1											UMLS:C0265553|NCIT:C125597|SCTID:84598000|GARD:0009903|ICD9:755.10|MedDRA:10063143|UMLS:C1868111|Orphanet:93338|ICD10:Q70.4|OMIM:174700|COHD:79126|GARD:0001616														https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1				owl:Class
MONDO:0021055	biolink:NamedThing	classic familial adenomatous polyposis	Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.	mondoexuq1wtf	colorectal adenomatous polyposis|familial adenomatous polyposis coli|classic FAP|familial adenomatous polyposis syndrome|familial polyposis|adenomatous polyposis of the colon|FAP|adenomatous polyposis coli|familial adenomatous polyposis of the colon|polyposis coli|APC - adenomatous polyposis coli|familial adenomatous polyposis|FPC|familial polyposis coli|hereditary adenomatous polyposis coli|hereditary polyposis coli|familial multiple polyposis											NCIT:C3339|DOID:0050424|MedDRA:10056981|GARD:0006408|Orphanet:733|ICDO:8220/0|SCTID:72900001|UMLS:CN240755|ICD10:D12.6|DC:0000707|UMLS:C0032580|OMIMPS:175100																		owl:Class
MONDO:0003330	biolink:NamedThing	urinary tract obstruction	Blockage of the normal flow of contents of the urinary tract.	mondoexuq1wtf	urinary obstruction|obstructive uropathy											COHD:194406|ICD10:N13.9|NCIT:C3675|UMLS:C0178879|ICD9:599.6|DOID:5200|ICD9:599.60|SCTID:7163005																		owl:Class
MONDO:0008944	biolink:NamedThing	Joubert syndrome 1	Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.	mondoexuq1wtf	CPD4|Joubert syndrome 1|INPP5E Joubert syndrome|Joubert syndrome|JBTS1|Joubert-Boltshauser syndrome|Cerebellooculorenal syndrome 1|Joubert syndrome type 1|cerebellooculorenal syndrome 1|cerebelloparenchymal disorder 4|CORS1|Joubert syndrome caused by mutation in INPP5E											DOID:0110980|UMLS:CN119531|OMIM:213300																		owl:Class
MONDO:0013822	biolink:NamedThing	acrodysostosis 2 with or without hormone resistance	Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.	mondoexuq1wtf	PDE4D acrodysostosis|acrodysostosis caused by mutation in PDE4D|acrodysostosis 2 with or without hormone resistance|ACRDYS2											UMLS:C3553250|OMIM:614613																		owl:Class
MONDO:0019797	biolink:NamedThing	acrodysostosis	Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.	mondoexuq1wtf	Maroteaux-Malamut syndrome|Arkless-Graham syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|acrodysplasia											UMLS:C0220659|ICD9:756.59|DOID:14669|Orphanet:950|GARD:0005724|MESH:C538179|ICD10:Q75.4|SCTID:66758006|OMIMPS:101800														https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis				owl:Class
MONDO:0003438	biolink:NamedThing	combined small cell lung carcinoma	A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.	mondoexuq1wtf	combined type small cell carcinoma of the lung|small cell and large cell lung carcinoma|CSCLC|small cell and large cell carcinoma of the lung|lung combined type small cell carcinoma|mixed small cell and large cell lung carcinoma|combined small cell and large cell lung carcinoma|combined small and large cell lung carcinoma|combined small and large cell lung cancer|combined small cell lung carcinoma|mixed small cell and large cell carcinoma of the lung|combined type small cell lung carcinoma|combined type small cell carcinoma of lung|mixed small cell and large cell carcinoma of lung|combined small cell carcinoma of the lung|combined small cell carcinoma of lung|combined small cell lung cancer|small cell and large cell carcinoma of lung											UMLS:C1333125|ONCOTREE:CSCLC|DOID:5421|ICDO:8045/3|NCIT:C9137																		owl:Class
MONDO:0008433	biolink:NamedThing	small cell lung carcinoma	Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.	mondoexuq1wtf	oat cell carcinoma|small cell carcinoma of the lung|SCLC|oat cell carcinoma of lung|SCLC1|poorly differentiated endocrine neoplasm|lung oat cell carcinoma|small cell neuroendocrine carcinoma of the lung|small cell lung cancer|oat cell lung carcinoma|lung small cell carcinoma|small cell carcinoma of lung|small cell cancer of the lung|oat cell carcinoma (morphologic abnormality)|small cell neuroendocrine carcinoma of lung|oat cell carcinoma of the lung|lung small cell neuroendocrine carcinoma											UMLS:CN244903|Orphanet:70573|ICD9:162.9|ONCOTREE:SCLC|NCIT:C4917|SCTID:254632001|MESH:D055752|ICD10:C34.9|DOID:5411|OMIM:182280|EFO:0000702|KEGG:05222|UMLS:C0262584|DOID:5409																		owl:Class
MONDO:0016012	biolink:NamedThing	diethylstilbestrol syndrome	Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.	mondoexuq1wtf	DES syndrome|Distilbene embryofetopathy|fetal diethylstilbestrol syndrome|DES embryofetopathy|diethylstilbestrol embryofetopathy|antenatal diethylstilbestrol exposure											SCTID:716005004|UMLS:C0853695|GARD:0001859|ICD10:Q86.8|NCIT:C113422|MedDRA:10012780|Orphanet:1916														https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome				owl:Class
MONDO:0018403	biolink:NamedThing	female infertility due to an implantation defect		mondoexuq1wtf	rare female infertility due to an implantation defect											ICD10:N97.2|Orphanet:399882																		owl:Class
MONDO:0008050	biolink:NamedThing	MYH7-related skeletal myopathy	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	mondoexuq1wtf	Gowers disease|myopathy, distal, 1|MYH7-related skeletal myopathy|MPD1|myopathy, distal, early-onset, autosomal dominant|myopathy, distal, type 1|myopathy, late distal hereditary|Laing distal myopathy|myopathy distal, type 1|myosin storage myopathy|distal myopathy type 1|Laing early-onset distal myopathy											GARD:0010769|DOID:0070197|OMIM:160500|UMLS:CN074249|Orphanet:59135|ICD10:G71.0|SCTID:764859001																		owl:Class
MONDO:0011707	biolink:NamedThing	familial dyskinesia and facial myokymia	Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	mondoexuq1wtf	ADCY5-related dyskinesia|FDFM|dyskinesia, familial, with facial myokymia											ICD10:G51.4|SCTID:763352005|Orphanet:324588|UMLS:C1847627|OMIM:606703|MESH:C564676|GARD:0012722																		owl:Class
MONDO:0018633	biolink:NamedThing	20q11.2 microdeletion syndrome	20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.	mondoexuq1wtf	monosomy 20q11|Del(20)(q11.2)											ICD10:Q93.5|UMLS:CN237681|Orphanet:444051																		owl:Class
MONDO:0012080	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.	mondoexuq1wtf	neuropathy, distal hereditary motor, type 2B|HSPB1 neuronopathy, distal hereditary motor|HMN2B|neuronopathy, distal hereditary motor caused by mutation in HSPB1|neuronopathy, distal hereditary motor, type IIB|HMN 2B											MESH:C567084|UMLS:C2608087|OMIM:608634|DOID:0111207																		owl:Class
MONDO:0000075	biolink:NamedThing	neuronopathy, distal hereditary motor		mondoexuq1wtf						See genetic heterogeneity of OMIM 182960.						DC:0000322																		owl:Class
MONDO:0017907	biolink:NamedThing	primary lymphoma of the conjunctiva	Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.	mondoexuq1wtf	primary lymphoid conjunctival tumor|conjunctiva lymphoma|lymphoma of conjunctiva|primary organ-specific lymphoma of conjunctiva|conjunctiva primary organ-specific lymphoma											Orphanet:319667|UMLS:CN203974|SCTID:763477007|ICD10:C85.7																		owl:Class
MONDO:0017207	biolink:NamedThing	primary organ-specific lymphoma		mondoexuq1wtf												Orphanet:279911|UMLS:C1334465|NCIT:C7185																		owl:Class
MONDO:0016205	biolink:NamedThing	IRVAN syndrome		mondoexuq1wtf	idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|idiopathic retinal-aneurysms-neuroretinitis syndrome											UMLS:C3665812|GARD:0012868|ICD10:H35.0|Orphanet:209943																		owl:Class
MONDO:0014238	biolink:NamedThing	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		mondoexuq1wtf	MRT39|intellectual disability, autosomal recessive type 39|intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive type 39|mental retardation, autosomal recessive 39											UMLS:C3809853|Orphanet:391307|ICD10:Q87.8|OMIM:615541																		owl:Class
MONDO:0033856	biolink:NamedThing	LAMA5-related multisystemic syndrome		mondoexuq1wtf												Orphanet:521450																		owl:Class
MONDO:0003529	biolink:NamedThing	acute pyelonephritis	Sudden onset pyelonephritis.	mondoexuq1wtf	pyelonephritis, acute											NCIT:C123215|DOID:559|COHD:4280571|SCTID:36689008|ICD10:N10|UMLS:C0520575|ICD9:590.1																		owl:Class
MONDO:0006939	biolink:NamedThing	pyelonephritis	An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.	mondoexuq1wtf	pyometrium|kidney infection											ICD10:N12|DOID:11400|ICD10:N16|SCTID:45816000|COHD:198199|NCIT:C34965|EFO:1001141|ICD10:N10-N16|GARD:0012020|MESH:D011704|MedDRA:10037596|UMLS:C0034186|ICD9:590.80																		owl:Class
MONDO:0001493	biolink:NamedThing	chronic pulmonary heart disease	Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.	mondoexuq1wtf	Cor pulmonale											UMLS:C0238074|ICD9:416.8|ICD9:416.9|COHD:315831|SCTID:87837008|NCIT:C34478|DOID:12326																		owl:Class
MONDO:0004370	biolink:NamedThing	sphenocavernous meningioma	A meningioma that affects the sphenocavernous region.	mondoexuq1wtf												NCIT:C5313|UMLS:C1336036|DOID:7820																		owl:Class
MONDO:0020123	biolink:NamedThing	metabolic myopathy	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.	mondoexuq1wtf												SCTID:26111005|NCIT:C98985|Orphanet:98486|ICD9:359.89|MedDRA:10068836|UMLS:C0270984																		owl:Class
MONDO:0021507	biolink:NamedThing	benign neoplasm of brain stem	A benign neoplasm that involves the brainstem.	mondoexuq1wtf	benign neoplasms of the brainstem|benign tumor of the brain stem|benign neoplasm of the brain stem|benign brain stem neoplasms|brainstem benign neoplasm|benign tumor of brain stem|benign tumors of the brainstem|benign tumor of brainstem|benign brainstem tumor|benign tumors of brainstem|benign neoplasms of brainstem|benign brainstem neoplasm|benign brain stem tumor|benign neoplasm of the brainstem|benign brainstem neoplasms|benign tumor of the brainstem|benign brainstem tumors|benign brain stem neoplasm|benign neoplasm of brainstem											SCTID:92029009|NCIT:C8549|UMLS:C0686400																		owl:Class
MONDO:0025510	biolink:NamedThing	pythiosis	A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.	mondoexuq1wtf	pythium insidiosum infection|human pythiosis											UMLS:C0276912|EFO:1001410|MESH:D058968|GARD:0011989																		owl:Class
MONDO:0010430	biolink:NamedThing	intellectual disability, X-linked 97	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.	mondoexuq1wtf	intellectual disability, X-linked 97|mental retardation, X-linked type 97|intellectual disability, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|MRX97|Mrxz|mental retardation, X-linked 97|mental retardation, X-linked 65|intellectual disability, X-linked 65|ZNF711 non-syndromic X-linked intellectual disability											MESH:C567583|OMIM:300803|UMLS:C2749020																		owl:Class
MONDO:0003292	biolink:NamedThing	anus leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	anal leiomyoma|leiomyoma of anus|leiomyoma of the anus|anus leiomyoma											NCIT:C5608|DOID:5134|UMLS:C1332266																		owl:Class
MONDO:0021469	biolink:NamedThing	benign neoplasm of anus	A benign neoplasm that involves the anus.	mondoexuq1wtf	anus benign neoplasm|benign anal neoplasm|benign tumor of the anus|benign anal tumor|benign tumor of anus|benign neoplasm of the anus											UMLS:C0347276|NCIT:C4611|SCTID:91978004																		owl:Class
MONDO:0015789	biolink:NamedThing	non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations		mondoexuq1wtf												ICD10:E23.0|Orphanet:178025																		owl:Class
MONDO:0006295	biolink:NamedThing	malignant urinary system neoplasm	A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.	mondoexuq1wtf	malignant neoplasm of renal system|malignant renal system neoplasm|malignant urinary tract neoplasm|urinary system cancer|cancer of renal system|malignant urinary system neoplasm|renal system cancer											DOID:3996|SCTID:448233000|ICD10:C64.C68|ICD10:C68.9|ICD9:189.9|EFO:1000363|NCIT:C9297																		owl:Class
MONDO:0021066	biolink:NamedThing	urinary system neoplasm	A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003	mondoexuq1wtf	neoplasm of the urinary tract|neoplasm of urinary system|neoplasm of renal system|urinary system neoplasm|tumor of the urinary tract|urinary system tumor|neoplasm of urinary tract|neoplasm of the urinary system|tumor of renal system|renal system neoplasm|tumor of the urinary system|tumor of urinary system|renal system tumor|urinary tract tumor|renal system neoplasm (disease)|tumor of urinary tract|urinary tract neoplasm					Editor note: note the ONCOTREE class is more general than just bladder						ICD9:239.5|SCTID:126879004|NCIT:C3431|ONCOTREE:BLADDER																		owl:Class
MONDO:0000682	biolink:NamedThing	time agnosia	An agnosia that is a loss of the ability to comprehend the succession and duration of events.	mondoexuq1wtf												DOID:0060152																		owl:Class
MONDO:0013395	biolink:NamedThing	retinitis pigmentosa 4	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.	mondoexuq1wtf	RP 4|retinitis pigmentosa 4|retinitis pigmentosa type 4|RP4|RHO retinitis pigmentosa|retinitis pigmentosa, rhodopsin-related|retinitis pigmentosa caused by mutation in RHO											GARD:0010405|MESH:C566706|HGNC:10012|DOID:0110372|ICD10:H35.5|UMLS:C3151001|OMIM:613731														https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4				owl:Class
MONDO:0018146	biolink:NamedThing	idiopathic macular telangiectasia type 1	Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	mondoexuq1wtf	aneurysmal telangiectasia|visible and exudative idiopathic juxtafoveolar retinal telangiectasis											Orphanet:353344|ICD10:H35.5|UMLS:CN204544																		owl:Class
MONDO:0024182	biolink:NamedThing	dry beriberi		mondoexuq1wtf	endemic neuritis											DOID:0070318|ICD10CM:E51.11																		owl:Class
MONDO:0006676	biolink:NamedThing	beriberi	Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.	mondoexuq1wtf	vitamin B1 deficiency|Beri Beri|thiamine deficiency					Editor note: check if beriberi should be made a subclass of TD						UMLS:C0005122|MESH:D001602|ICD9:265.0|SCTID:36656008|DOID:0070313|ICD10:E51.11|ICD10:E51.1|EFO:1000837|DOID:13725|NCIT:C34418|GARD:0009948|COHD:434620|MedDRA:10004482														https://rarediseases.info.nih.gov/diseases/9948/beriberi				owl:Class
MONDO:0010543	biolink:NamedThing	Barth syndrome	Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.	mondoexuq1wtf	3-methylglutaconic aciduria type II|3-Methylglutaconic aciduria, type 2|X-linked cardioskeletal myopathy and neutropenia|TAZ defect|MGA2|Mga, type 2|cardioskeletal myopathy with neutropenia and abnormal mitochondria|Barth syndrome|3-Methylglutaconicaciduria type II|3-methylglutaconic aciduria type 2|MGA type II|cardioskeletal myopathy-neutropenia syndrome|BTHS|MGA type 2|BARTH syndrome|3-Methylglutaconicaciduria type 2											UMLS:C0574083|ICD10:E71.1|NCIT:C84585|ICD10:E78.71|DOID:0050476|OMIM:302060|GARD:0005890|MESH:D056889|SCTID:297231002|Orphanet:111														https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome				owl:Class
MONDO:0018159	biolink:NamedThing	atypical hemolytic-uremic syndrome with DGKE deficiency		mondoexuq1wtf	D-HUS with DGKE deficiency|atypical HUS with DGKE deficiency|aHUS with DGKE deficiency|hemolytic-uremic syndrome without diarrhea with DGKE deficiency											Orphanet:357008|DOID:0080388|ICD10:D58.8|UMLS:CN204596																		owl:Class
MONDO:0044323	biolink:NamedThing	Rahman syndrome	Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).	mondoexuq1wtf	RMNS|Rahman syndrome											UMLS:C4479637|OMIM:617537																		owl:Class
MONDO:0003272	biolink:NamedThing	mixed epithelial stromal tumor		mondoexuq1wtf	mixed epithelial stromal tumour											DOID:5088																		owl:Class
MONDO:0009140	biolink:NamedThing	Silverman-Handmaker type dyssegmental dysplasia	Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	mondoexuq1wtf	Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|DDSH|dyssegmental dysplasia Silverman-Handmaker type|dyssegmental dwarfism Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type											SCTID:93132001|DOID:0090032|ICD10:Q77.7|ICD9:759.89|OMIM:224410|MESH:C537998|GARD:0002026|Orphanet:1865														https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type				owl:Class
MONDO:0016273	biolink:NamedThing	malignant germ cell tumor of corpus uteri	A malignant germ cell tumor that involves the body of uterus.	mondoexuq1wtf	malignant germ cell tumor of the corpus uteri|body of uterus malignant germ cell tumor|germ cell cancer of corpus uteri|germ cell cancer of the corpus uteri											ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.0|ICD10:C54.1|Orphanet:213751|UMLS:CN201062																		owl:Class
MONDO:0006003	biolink:NamedThing	uterine corpus cancer	A malignant neoplasm involving the body of uterus.	mondoexuq1wtf	uterine (including endometrial) cancer|cancer of the corpus uteri|cancer of body of uterus|body of uterus cancer|uterine corpus cancer|corpus uteri cancer|malignant body of uterus neoplasm|endometrial cancer|malignant neoplasm of body of uterus					Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer						ICD10:C54|SCTID:371972005|DOID:9460|EFO:0007532|ICD10:C54.9|ICD9:182|NCIT:C61574|COHD:4156113																		owl:Class
MONDO:0013181	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A3	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.	mondoexuq1wtf	amelogenesis imperfecta hypomaturation type IIA3|AI2A3|amelogenesis imperfecta type IIA3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in WDR72|amelogenesis imperfecta, hypomaturation type, IIA3											OMIM:613211|UMLS:C2750771|DOID:0110061|ICD10:K00.5|MESH:C567706																		owl:Class
MONDO:0015048	biolink:NamedThing	amelogenesis imperfecta type 2		mondoexuq1wtf	amelogenesis imperfecta hypomaturation type|hypomaturation amelogenesis imperfecta											ICD9:520.5|Orphanet:100033|ICD10:K00.5|SCTID:109475005|MESH:C536606|GARD:0008349																		owl:Class
MONDO:0003352	biolink:NamedThing	colon sarcoma	A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	mondoexuq1wtf	colonic sarcoma|colon sarcoma|sarcoma of colon|sarcoma of the colon											DOID:5260|NCIT:C5495|UMLS:C1333098																		owl:Class
MONDO:0032784	biolink:NamedThing	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		mondoexuq1wtf	NEDNEH|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS											OMIM:618497																		owl:Class
MONDO:0018223	biolink:NamedThing	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.	mondoexuq1wtf	systemic EBV-positive T-cell lymphoproliferative disease of childhood|systemic EBV-positive T-cell lymphoma of childhood|systemic EBV+ T-cell LPD of childhood|systemic EBV-positive T-cell lymphoproliferative disorder of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood											SCTID:721311006|NCIT:C80374|ICDO:9724/3|ICD10CM:D47.9|DOID:0070324|ICD10:D47.9|UMLS:CN204753|Orphanet:364033																		owl:Class
MONDO:0005258	biolink:NamedThing	autism spectrum disorder	A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.	mondoexuq1wtf	PDD|atypical autism|autistic spectrum disorder|pervasive developmental disorder - not otherwise specified|pervasive developmental disorders											NCIT:C88412|COHD:439776|SCTID:408856003|DOID:0060042|EFO:0003756|DOID:0060041|EFO:0003759																		owl:Class
MONDO:0043133	biolink:NamedThing	microcephaly micropenis convulsions		mondoexuq1wtf	microcephaly seizures genital hypoplasia|microcephaly micropenis convulsions|microcephaly micropenis seizures											GARD:0003628|UMLS:C2931525|MESH:C537540																		owl:Class
MONDO:0001386	biolink:NamedThing	visual epilepsy	Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'	mondoexuq1wtf	epilepsy, visual											UMLS:C0270824|NCIT:C3980|MESH:D012640|DOID:11832|SCTID:39194005																		owl:Class
MONDO:0016112	biolink:NamedThing	inclusion myopathy		mondoexuq1wtf	cytoplasmic body myopathy											GARD:0001658|ICD10:G71.8|Orphanet:206662														https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy				owl:Class
MONDO:0003422	biolink:NamedThing	lung adenoma	A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.	mondoexuq1wtf	adenoma of lung|pulmonary adenoma|adenoma of the lung|lung adenoma											DOID:5386|SCTID:254642004|NCIT:C4455|UMLS:C0345964																		owl:Class
MONDO:0015785	biolink:NamedThing	Prader-Willi syndrome due to translocation		mondoexuq1wtf												Orphanet:177907|UMLS:CN200367|ICD10:Q87.1																		owl:Class
MONDO:0008726	biolink:NamedThing	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		mondoexuq1wtf	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis|ABS1											OMIM:201750|UMLS:C3150099|Orphanet:63269																		owl:Class
MONDO:0008803	biolink:NamedThing	Antley-Bixler syndrome	Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.	mondoexuq1wtf	osteodysgenesis, multisynostotic with fractures|osteodysgenesis, multisynostotic, with fractures|Antley Bixler syndrome|multisynostotic osteodysgenesis with long bone fractures|trapezoidocephaly synostosis syndrome|trapezoidocephaly-synostosis syndrome											GARD:0005826|ICD10:Q87.0|Orphanet:83|DOID:0050462|SCTID:62964007														https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome				owl:Class
MONDO:0006567	biolink:NamedThing	kernicterus due to isoimmunization	Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.	mondoexuq1wtf	kernicterus related to isoimmunization|kernicterus due to isoimmunization of fetus or newborn|kernicterus - due to isoimm.											ICD10:P57.0|NCIT:C101270|SCTID:359007|ICD9:773.4|UMLS:C0270204|EFO:1000721|DOID:12043																		owl:Class
MONDO:0001240	biolink:NamedThing	neonatal anemia	The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.	mondoexuq1wtf	anemia neonatal											MESH:D000751|DOID:11244|UMLS:C0002891|SCTID:234350007																		owl:Class
MONDO:0008241	biolink:NamedThing	phosphoglycoprotein 1		mondoexuq1wtf	phosphoglycoprotein 1|PGP1|phosphoglycoprotein type 1											OMIM:172290																		owl:Class
MONDO:0013760	biolink:NamedThing	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome		mondoexuq1wtf	ISQMR|ichthyosis, spastic quadriplegia, and mental retardation|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ichthyosis, spastic quadriplegia, and intellectual disability											ICD10:Q80.8|Orphanet:352333|UMLS:C3280856|OMIM:614457																		owl:Class
MONDO:0009315	biolink:NamedThing	congenital factor XII deficiency	Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.	mondoexuq1wtf	factor 12 deficiency|factor XII deficiency disease|deficiency, Hageman|Hageman Factor deficiency|Haf deficiency|F12 deficiency|coagulation factor 12 deficiency|congenital Hageman factor deficiency|factor XII deficiency											SCTID:46981006|UMLS:C0015526|DOID:2231|ICD10:D68.2|GARD:0006558|ICD9:286.3|Orphanet:330|NCIT:C131740|OMIM:234000|MESH:D005175														https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency				owl:Class
MONDO:0004203	biolink:NamedThing	female urethral cancer	A cancer that involves the female urethra.	mondoexuq1wtf	female urethra cancer|cancer of female urethra|malignant female urethra neoplasm|female urethral malignant neoplasm|malignant neoplasm of female urethra											DOID:738|UMLS:C1517154|NCIT:C39866																		owl:Class
MONDO:0014119	biolink:NamedThing	intellectual disability-strabismus syndrome		mondoexuq1wtf	MRT36|mental retardation, autosomal recessive 36|intellectual disability, autosomal recessive type 36|intellectual disability, autosomal recessive 36|mental retardation, autosomal recessive type 36											OMIM:615286|Orphanet:363528|UMLS:C3809039|ICD10:H50.8																		owl:Class
MONDO:0021020	biolink:NamedThing	Crigler-Najjar syndrome type 1	Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).	mondoexuq1wtf	Crigler-Najjar syndrome, type I|Crigler-Najjar syndrome, type 1|UGT deficiency type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hyperbilirubinemia, Crigler-Najjar type 1|Crigler Najjar syndrome, type 1|hereditary unconjugated hyperbilirubinemia type 1|bilirubin-UGT deficiency type 1											GARD:0000047|ICD10:E80.5|Orphanet:79234|MedDRA:10057034|OMIM:218800|SCTID:8933000														https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1				owl:Class
MONDO:0009044	biolink:NamedThing	Crigler-Najjar syndrome	Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.	mondoexuq1wtf	hereditary unconjugated hyperbilirubinemia|bilirubin uridinediphosphate glucuronosyltransferase deficiency|bilirubin UDP glucuronyl transferase deficiency|bilirubin-UGT deficiency|Crigler-Najjar syndrome|Crigler Najjar syndrome|UGT deficiency											ICD10:E80.5|NCIT:C84656|UMLS:CN119421|UMLS:C0010324|SCTID:28259009|DOID:3803|MESH:D003414|Orphanet:205|MedDRA:10011386																		owl:Class
CL:0000787	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000608	biolink:NamedThing	familial juvenile hyperuricemic nephropathy		mondoexuq1wtf	familial nephropathy associated with hyperuricemia|gouty nephropathy, familial|juvenile gouty nephropathy|nephropathy, familial, with gout|gouty nephropathy, familial juvenile|familial juvenile hyperuricemic nephropathy|juvenile gout|familial juvenile gouty nephropathy|FJHN|familial nephropathy with gout|tubulointerstitial kidney disease											GARD:0000067|SCTID:46785007|DOID:0060062|OMIMPS:162000|UMLS:CN239392|MESH:C537696																		owl:Class
MONDO:0010667	biolink:NamedThing	Prieto syndrome	This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.	mondoexuq1wtf	Prieto-Badia-Mulas syndrome|mental retardation, X-linked, syndromic 2|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|Prieto X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|PRS|MRXS2|Prieto X-linked mental retardation syndrome											SCTID:719140001|MESH:C535274|DOID:0060805|OMIM:309610|GARD:0004482|NCIT:C18058|Orphanet:2958																		owl:Class
MONDO:0016264	biolink:NamedThing	autoimmune hepatitis	Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.	mondoexuq1wtf	autoimmune chronic active hepatitis|AIH|autoimmune liver disease|autoimmune hepatitis with centrilobular necrosis|chronic autoimmune hepatitis|autoimmune chronic hepatitis|autoimmune hepatitis											MedDRA:10003827|ICD10:K75.4|UMLS:C0241910|ICD9:571.42|DOID:2048|GARD:0005871|SCTID:408335007|COHD:200762|UMLS:C1332355|NCIT:C27029|Orphanet:2137|EFO:0005676|MESH:D019693																		owl:Class
MONDO:0000586	biolink:NamedThing	autoimmune disease of exocrine system	A hypersensitivity reaction type II disease that involves the exocrine system.	mondoexuq1wtf	exocrine system hypersensitivity reaction type II disease|exocrine system autoimmune disease											DOID:0060029																		owl:Class
MONDO:0017497	biolink:NamedThing	congenital absence of thigh and lower leg with foot present, bilateral		mondoexuq1wtf	Femorotibiofibular intercalary transverse meromelia, bilateral											ICD10:Q72.13|Orphanet:295091|ICD10:Q72.1																		owl:Class
MONDO:0018070	biolink:NamedThing	familial multiple fibrofolliculoma	Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	mondoexuq1wtf	multiple fibrofolliculoma familial											Orphanet:338|SCTID:723361006|UMLS:C4509837|UMLS:CN204388|GARD:0003831														https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial				owl:Class
MONDO:0044876	biolink:NamedThing	drug hypersensitivity syndrome	A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs.	mondoexuq1wtf	DHS|Drug hypersensitivity syndrome|Drug reaction with eosinophilia and Systemic symptoms|dress											NCIT:C112208																		owl:Class
MONDO:0017837	biolink:NamedThing	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf												Orphanet:3151|UMLS:CN203814|ICD10:G37.8																		owl:Class
MONDO:0018821	biolink:NamedThing	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		mondoexuq1wtf	X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females											Orphanet:480880|UMLS:CN776923																		owl:Class
MONDO:0002670	biolink:NamedThing	ampulla of vater adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla	mondoexuq1wtf	ampulla of Vater adenocarcinoma|adenocarcinoma of ampulla of Vater|ampullary adenocarcinoma|invasive adenocarcinoma of the ampullary region|adenocarcinoma of ampulla of vater|hepatopancreatic ampulla adenocarcinoma											DOID:3502|UMLS:C1332243|EFO:0008490|NCIT:C6650																		owl:Class
MONDO:0017590	biolink:NamedThing	carcinoma of the ampulla of vater	A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	mondoexuq1wtf	ampullary carcinoma|hepatopancreatic ampulla carcinoma|ampullary cancer|ampulla of Vater cancer|AMPCA|ampulla of Vater carcinoma|Ampulloma|carcinoma of hepatopancreatic ampulla|carcinoma of ampulla of vater											EFO:1000079|ONCOTREE:AMPCA|MedDRA:10048853|NCIT:C3908|UMLS:C0262401|Orphanet:300557|SCTID:254609000|ICD10:C24.1|DOID:4932																		owl:Class
MONDO:0011433	biolink:NamedThing	anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome		mondoexuq1wtf	anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome											MESH:C565796|UMLS:C1858537|OMIM:604315																		owl:Class
MONDO:0017598	biolink:NamedThing	primary cutaneous anaplastic large cell lymphoma	Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.	mondoexuq1wtf	primary cutaneous CD30+ anaplastic large cell lymphoma|primary cutaneous CD30+ ALCL|primary C-ALCL|regressive atypical histiocytosis|primary anaplastic large cell lymphoma of the skin|C-ALCL|primary anaplastic large cell lymphoma of skin|primary cutaneous CD30 Positive anaplastic large cell lymphoma|anaplastic large-cell lymphoma, primary cutaneous type|ALCL, cutaneous											MedDRA:10065863|NCIT:C6860|ICD10:C86.6|Orphanet:300865|UMLS:C1301362|ONCOTREE:PCALCL|MESH:D054446																		owl:Class
MONDO:0018897	biolink:NamedThing	primary cutaneous CD30+ T-cell lymphoproliferative disease		mondoexuq1wtf	primary cutaneous Ki-1+ T-cell lymphoproliferative disease											ICD10:C86.6|Orphanet:541|UMLS:CN205268|MedDRA:10065863																		owl:Class
MONDO:0007552	biolink:NamedThing	pretibial dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.	mondoexuq1wtf	epidermolysis bullosa, pretibial|epidermolysis bullosa dystrophica, pretibial|DEB-Pt|dystrophic epidermolysis bullosa, pretibial|pretibial epidermolysis bullosa|pretibial DEB|Deb, pretibial											Orphanet:79410|OMIM:131850|ICD10:Q81.2|SCTID:67653003|GARD:0002155|MESH:C535494|ICD9:757.39																		owl:Class
MONDO:0006543	biolink:NamedThing	epidermolysis bullosa dystrophica	A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.	mondoexuq1wtf												MESH:D016108|ICD10:Q81.2|DOID:4959|NCIT:C84691|SCTID:254185007|ICD9:757.39|Wikipedia:Epidermolysis_bullosa_dystrophica|EFO:1000692																		owl:Class
MONDO:0015723	biolink:NamedThing	trisomy 12p	Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.	mondoexuq1wtf	12p duplication|trisomy type 12p|12p trisomy|partial trisomy 12p|chromosome 12p duplication|Duplication 12p											MESH:C538299|ICD10:Q92.3|GARD:0005305|Orphanet:1699|UMLS:C0795845																		owl:Class
MONDO:0001326	biolink:NamedThing	dental pulp necrosis	Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.	mondoexuq1wtf	necrosis of the pulp|necrotic pulp|necrosis of pulp|pulp necrosis											COHD:437590|DOID:11623|ICD10:K04.1|SCTID:42711005|UMLS:C0011407|ICD9:522.1|MESH:D003790																		owl:Class
MONDO:0014724	biolink:NamedThing	Joubert syndrome 24	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	mondoexuq1wtf	JBTS24|Joubert syndrome 24|Joubert syndrome type 24|TCTN2 Joubert syndrome|Joubert syndrome caused by mutation in TCTN2											DOID:0110993|OMIM:616654|UMLS:C4084841																		owl:Class
MONDO:0020357	biolink:NamedThing	coloboma of eyelid	A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.	mondoexuq1wtf	coloboma of the eyelid											UMLS:C0521573|ICD10:Q10.3|SCTID:95202004|Orphanet:98946|NCIT:C98878																		owl:Class
MONDO:0012784	biolink:NamedThing	autosomal recessive ataxia due to ubiquinone deficiency	This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.	mondoexuq1wtf	spinocerebellar ataxia, autosomal recessive 9|SCAR9|autosomal recessive spinocerebellar ataxia 9|autosomal recessive spinocerebellar ataxia type 9|ARCA2|COQ10D4|autosomal recessive ataxia due to coenzyme Q10 deficiency|autosomal recessive cerebellar ataxia type 2|coenzyme Q10 deficiency, primary, type 4|coenzyme Q10 deficiency, primary, 4											MESH:C567436|ICD10:G11.1|GARD:0010294|Orphanet:139485|UMLS:C4511089|DOID:0070241|OMIM:612016|SCTID:725394006|UMLS:C2677589																		owl:Class
MONDO:0004380	biolink:NamedThing	dendritic cell sarcoma	A sarcoma that involves the dendritic cell.	mondoexuq1wtf	follicular dendritic cell sarcoma|Dendritic cell sarcoma|sarcoma of dendritic cell|dendritic cell sarcoma|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)					Editor note: we place the NCIT class here even though it is NOS						NCIT:C27260|SCTID:446643000|ONCOTREE:DCS|DOID:7849																		owl:Class
MONDO:0013640	biolink:NamedThing	familial retinal arterial macroaneurysm		mondoexuq1wtf	Fram|retinal arterial macroaneurysm with supravalvular pulmonic stenosis|retinal arterial macroaneurysm and supravalvular pulmonic stenosis|RAMSVPS											GARD:0012779|UMLS:C3280205|SCTID:764452004|OMIM:614224|Orphanet:284247																		owl:Class
MONDO:0020238	biolink:NamedThing	inherited vitreous-retinal disease		mondoexuq1wtf	genetic vitreoretinal disease|genetic vitreous-retinal disease											Orphanet:98657|UMLS:CN207063																		owl:Class
MONDO:0009203	biolink:NamedThing	focal facial dermal dysplasia type III	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.	mondoexuq1wtf	facial ectodermal dysplasia|focal facial dermal dysplasia type 2|focal Facial dermal dysplasia, type II, formerly|FFDD type III|bitemporal forceps marks syndrome|focal Facial dermal dysplasia, type II|FFDD3|focal facial dermal dysplasia 3, Setleis type|Setleis syndrome|FFDD type 2|bitemporal forceps Marks syndrome											Orphanet:1807|ICD10:Q82.8|OMIM:227260|GARD:0000121|SCTID:403771007																		owl:Class
MONDO:0018363	biolink:NamedThing	focal facial dermal dysplasia	Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.	mondoexuq1wtf	FFDD											OMIMPS:136500|ICD10:Q82.8|DC:0000521|Orphanet:398166																		owl:Class
MONDO:0020840	biolink:NamedThing	pulmonary alveolar proteinosis with hypogammaglobulinemia		mondoexuq1wtf	PAPHG|pulmonary alveolar proteinosis with hypogammaglobulinemia											OMIM:618042|UMLS:CN248786																		owl:Class
MONDO:0012375	biolink:NamedThing	autosomal recessive nonsyndromic deafness 47	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.	mondoexuq1wtf	deafness, neurosensory, autosomal recessive 47|autosomal recessive nonsyndromic deafness type 47|DFNB47|deafness, autosomal recessive 47|autosomal recessive deafness 47											GARD:0009935|DOID:0110504|UMLS:C1864964|OMIM:609946|MESH:C566498|ICD10:H90.3																		owl:Class
MONDO:0010550	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 2	X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.	mondoexuq1wtf	X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease X-linked recessive type 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|CMTX 2|CMTX2|Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|Charcot Marie Tooth disease X-linked recessive 2											ICD10:G60.0|MESH:C535302|Orphanet:101076|OMIM:302801|SCTID:763457000|DOID:0110208|GARD:0001243|UMLS:C1844873																		owl:Class
MONDO:0021697	biolink:NamedThing	chlamydia infectious disease	Infections with bacteria of the genus CHLAMYDIA.	mondoexuq1wtf	chlamydia infectious disease|Chlamydia caused disease or disorder|infection, Chlamydia|Chlamydia infectious disease|Chlamydia infection|infections, Chlamydia|Chlamydophila caused disease or disorder|Chlamydia disease or disorder|Chlamydophila disease or disorder											MESH:D023521|MESH:D002690|EFO:1000863|MONDO:0006697																		owl:Class
MONDO:0002717	biolink:NamedThing	spinal cord intramedullary teratoma		mondoexuq1wtf	intramedullary teratoma of spinal cord|intramedullary spinal teratoma|intramedullary teratoma of the spinal cord|intramedullary spinal cord teratoma											DOID:3639|NCIT:C5428|UMLS:C1334259																		owl:Class
MONDO:0017811	biolink:NamedThing	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		mondoexuq1wtf	Del(5)(q31.3)|5q31.3 microdeletion syndrome|monosomy 5q31.3											Orphanet:314655|SCTID:768555009|ICD10:Q93.5|UMLS:CN203780																		owl:Class
MONDO:0018580	biolink:NamedThing	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome		mondoexuq1wtf												UMLS:CN237608|Orphanet:438213|ICD10:G40.4																		owl:Class
MONDO:0005316	biolink:NamedThing	bacterial vaginosis	Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.	mondoexuq1wtf	BV											MESH:D016585|UMLS:C0085166|NCIT:C116973|SCTID:419760006|EFO:0003932|DOID:3385																		owl:Class
MONDO:0006706	biolink:NamedThing	Bifidobacteriales infectious disease	Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.	mondoexuq1wtf	Bifidobacteriales disease or disorder|Bifidobacteriales infection|Bifidobacteriales caused disease or disorder|infections, Bifidobacteriales|infection, Bifidobacteriales											EFO:1000873|UMLS:C1136339|MESH:D039941																		owl:Class
MONDO:0009727	biolink:NamedThing	atelosteogenesis type II	Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.	mondoexuq1wtf	atelosteogenesis II|Aoii|atelosteogenesis, type 2|AO2|atelosteogenesis type 2|De 50A Chapelle dysplasia|atelosteogenesis, type II|neonatal osseous dysplasia 1|De la Chapelle dysplasia|neonatal osseous dysplasia type 1|AOII											SCTID:254055004|UMLS:C1850554|ICD10:Q77.5|GARD:0008329|MESH:C535395|OMIM:256050|ICD9:756.9|Orphanet:56304|UMLS:C1850555																		owl:Class
MONDO:0020343	biolink:NamedThing	alpha-crystallinopathy		mondoexuq1wtf	CRYAB-related myofobrillar myopathy											ICD10:G71.8|Orphanet:98910																		owl:Class
MONDO:0011716	biolink:NamedThing	acute hemorrhagic leukoencephalitis	Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.	mondoexuq1wtf	acute necrotizing hemorrhagic leukoencephalitis|acute haemorrhagic leucoencephalitis of Weston Hurst|AHL|acute hemorrhagic encephalomyelitis|Weston-Hurst syndrome|AHLE|Ahl|acute hemorrhagic leukoencephalitis											SCTID:72986009|ICD9:136.9|UMLS:C0014077|GARD:0008629|EFO:0007132|NCIT:C84535|OMIM:606752|DOID:10992|MESH:D004684														https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis				owl:Class
MONDO:0003337	biolink:NamedThing	acute hemorrhagic encephalitis	Acute encephalitis that is characterized by bleeding.	mondoexuq1wtf	acute hemorrhagic encephalitis											DOID:5224|UMLS:C1332149|NCIT:C35796																		owl:Class
MONDO:0014545	biolink:NamedThing	progressive myoclonic epilepsy type 8	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.	mondoexuq1wtf	epilepsy, progressive myoclonic, 8|progressive myoclonic epilepsy caused by mutation in CERS1|CERS1 progressive myoclonic epilepsy|EPM8|PME type 8|epilepsy, progressive myoclonic, type 8|progressive myoclonic epilepsy due to CERS1 deficiency|progressive myoclonus epilepsy type 8											Orphanet:424027|OMIM:616230|DOID:0111451|UMLS:C4015619|ICD10:G40.3																		owl:Class
MONDO:0009046	biolink:NamedThing	Fraser syndrome	Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.	mondoexuq1wtf	cryptophthalmos with Other malformations|Ulrich-Feichtiger syndrome|Fraser syndrome|cyclopism|Meyer-Schwickerath's syndrome|cryptophthalmos with other malformations|Fraser-Francois syndrome|cryptophthalmos syndrome|cryptophthalmos-syndactyly syndrome											DOID:0090001|MESH:D058497|Orphanet:2052|SCTID:204102004|GARD:0006465|UMLS:C0265233|ICD10:Q87.0|OMIMPS:219000|NCIT:C118436														https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome				owl:Class
MONDO:0020153	biolink:NamedThing	cryptophthalmia	A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.	mondoexuq1wtf	cryptophthalmos											ICD9:743.06|GARD:0010505|Orphanet:98562|NCIT:C124520|SCTID:400951005|DOID:0111716																		owl:Class
MONDO:0002141	biolink:NamedThing	cutaneous undifferentiated pleomorphic sarcoma	An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.	mondoexuq1wtf	cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|cutaneous undifferentiated pleomorphic sarcoma|malignant cutaneous fibrous histiocytoma|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|cutaneous malignant fibrous histiocytoma|malignant skin fibrous histiocytoma|zone of skin undifferentiated pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma|undifferentiated pleomorphic sarcoma of zone of skin|malignant fibrous histiocytoma of skin											SCTID:404014008|UMLS:C1275254|ICD9:171.9|NCIT:C5576|DOID:1906|EFO:1000212																		owl:Class
MONDO:0005911	biolink:NamedThing	pharyngoconjunctival fever	A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.	mondoexuq1wtf	pharyngoconjunctival fever|pharyngo-conjunctival fever|Adenoviral pharyngoconjunctivitis											NCIT:C34924|ICD9:077.2|UMLS:C0031351|SCTID:70385007|EFO:0007434|DOID:13801|MESH:D000258																		owl:Class
MONDO:0014631	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability		mondoexuq1wtf	hypomagnesemia, seizures, and intellectual disability|hypomagnesemia, seizures, and mental retardation|HOMGSMR											UMLS:C4225333|OMIMPS:616418																		owl:Class
MONDO:0018101	biolink:NamedThing	familial primary hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.	mondoexuq1wtf												SCTID:725031005|UMLS:C4510731|UMLS:CN204443|ICD10:E83.4|Orphanet:34527																		owl:Class
MONDO:0011238	biolink:NamedThing	chondrodysplasia punctata, brachytelephalangic, autosomal		mondoexuq1wtf	brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal											OMIM:602497																		owl:Class
MONDO:0012574	biolink:NamedThing	Potocki-Lupski syndrome	17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	mondoexuq1wtf	Potocki-Lupski syndrome|17p11.2 microduplication syndrome|trisomy 17p11.2|PTLS|17p11.2 Duplication syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|chromosome 17P11.2 Duplication syndrome|Duplication 17p11.2 syndrome|chromosome 17p11.2 duplication syndrome											OMIM:610883|NCIT:C124846|GARD:0010145|SCTID:734016004|Orphanet:1713|DOID:0060853|UMLS:C2931246|ICD10:Q92.3																		owl:Class
MONDO:0013275	biolink:NamedThing	hemolytic anemia due to glucophosphate isomerase deficiency	Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.	mondoexuq1wtf	hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency|glucosephosphate isomerase deficiency											Orphanet:712|UMLS:C3150730|ICD10:D55.2|GARD:0002502|UMLS:CN072763|OMIM:613470																		owl:Class
MONDO:0007431	biolink:NamedThing	dens in dente and palatal invaginations		mondoexuq1wtf	dens in dente and palatal INVAGINATIONS											UMLS:C1852250|MESH:C538211|OMIM:125300|GARD:0010069																		owl:Class
MONDO:0006555	biolink:NamedThing	granulomatous dermatitis	An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.	mondoexuq1wtf												NCIT:C3505|UMLS:C0743086|DOID:4397|EFO:1000705																		owl:Class
MONDO:0020746	biolink:NamedThing	contractures, pterygia, and variable skeletal fusions syndrome 1B		mondoexuq1wtf												OMIM:618469																		owl:Class
MONDO:0020937	biolink:NamedThing	contractures, pterygia, and variable skeletal fusions syndrome		mondoexuq1wtf												OMIMPS:178110																		owl:Class
MONDO:0010853	biolink:NamedThing	Helicobacter pylori infection, susceptibility to		mondoexuq1wtf	Helicobacter pylori infection, susceptibility to											UMLS:C1838332|OMIM:600263																		owl:Class
MONDO:0005644	biolink:NamedThing	amebiasis	A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.	mondoexuq1wtf	entamoebiasis|amoebiasis|chronic intestinal amebiasis											UMLS:C0002438|MESH:D000562|NCIT:C84551|EFO:0007144|ICD10:A06|ICD10:A06.9|DOID:9181|ICD9:006|ICD9:006.9																		owl:Class
MONDO:0006557	biolink:NamedThing	hemangioma of subcutaneous tissue	A hemangioma arising from the subcutaneous soft tissues.	mondoexuq1wtf	subcutaneous hemangioma|hemangioma of superficial fascia|subcutaneous tissue hemangioma|angioma of subcutaneous tissue|angioma of the subcutaneous tissue|hemangioma of subcutaneous tissue|superficial fascia hemangioma|subcutaneous tissue angioma|hemangioma of the subcutaneous tissue|subcutaneous haemangioma|subcutaneous angioma											UMLS:C0685200|NCIT:C8540|EFO:1000707|DOID:13081|SCTID:93473009																		owl:Class
MONDO:0015763	biolink:NamedThing	mosaic trisomy 2	Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	mondoexuq1wtf	Mosaic trisomy type 2|trisomy 2 mosaicism|Mosaic trisomy chromosome 2											GARD:0005331|Orphanet:1723|UMLS:CN073991|SCTID:764623009|ICD10:Q92.1																		owl:Class
MONDO:0013285	biolink:NamedThing	immunodeficiency, common variable, 5	Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.	mondoexuq1wtf	MS4A1 common variable immunodeficiency|immunodeficiency, common variable, type 5|antibody deficiency due to CD20 defect|common variable immunodeficiency caused by mutation in MS4A1|CVID5|immunodeficiency, common variable, 5											OMIM:613495|UMLS:C3150740																		owl:Class
MONDO:0003354	biolink:NamedThing	heart sarcoma	A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.	mondoexuq1wtf	sarcoma of the heart|cardiac sarcoma|sarcoma of heart|Cardiac sarcoma|heart sarcoma											NCIT:C7723|DOID:5262|UMLS:C0238152																		owl:Class
MONDO:0001340	biolink:NamedThing	heart cancer	A malignant neoplasm involving the heart	mondoexuq1wtf	malignant Cardiac tumor|Cardiac tumor|malignant neoplasm of heart|cancer of heart|malignant tumor of the heart|malignant heart tumor|malignant tumor of heart|Cardiac neoplasm, malignant|malignant neoplasm of the heart|heart cancer|malignant heart neoplasm|tumour of heart|malignant Cardiac neoplasm											ICD10:C38.0|DOID:117|NCIT:C3548|ICD9:164.1|MESH:D006338																		owl:Class
MONDO:0016408	biolink:NamedThing	permanent congenital hypothyroidism	Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.	mondoexuq1wtf												Orphanet:226292|ICD10:E03.1|ICD10:E03.0																		owl:Class
MONDO:0007780	biolink:NamedThing	hypertelorism, Teebi type	Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.	mondoexuq1wtf	hypertelorism, Teebi type|Teebi hypertelorism syndrome|Brachycephalofrontonasal dysplasia|Teebi syndrome|craniofrontonasal dysplasia, Teebi type											UMLS:CN199596|OMIM:145420|GARD:0000957|SCTID:724284005|Orphanet:1519|ICD10:Q87.0|UMLS:C0796179																		owl:Class
MONDO:0024414	biolink:NamedThing	anaerobic cellulitis		mondoexuq1wtf	anaerobic cellulitis											ICD9:682.9|ICD9:041.84|SCTID:238401006|UMLS:C0241828																		owl:Class
MONDO:0005230	biolink:NamedThing	cellulitis	Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.	mondoexuq1wtf	cellulitis (disease)|cellulitis		cellulitis (disease)									ICD9:682.9|ICD10:L03.90|NCIT:C26715|MESH:D002481|ICD9:682.8|Wikipedia:Cellulitis|SCTID:128045006|EFO:0003035|HP:0100658|COHD:435613|DOID:3488																		owl:Class
MONDO:0012178	biolink:NamedThing	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature		mondoexuq1wtf	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature|mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature											MESH:C563810|OMIM:609037|UMLS:C1836915																		owl:Class
MONDO:0000739	biolink:NamedThing	uvulitis	Inflammation of the uvula.	mondoexuq1wtf	inflammation of palatine uvula|palatine uvula inflammation|acute uvulitis											MedDRA:10051962|SCTID:300932000|DOID:0060310|NCIT:C128385|ICD9:528.3|UMLS:C0042174|ICD10:K12.2																		owl:Class
MONDO:0002536	biolink:NamedThing	skin papilloma	A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.	mondoexuq1wtf	zone of skin papilloma|papilloma of skin|basosquamous tumor, benign|cutaneous papilloma|papilloma of the skin|skin papilloma											SCTID:255184001|DOID:3178|NCIT:C4614|UMLS:C0347390																		owl:Class
MONDO:0017255	biolink:NamedThing	panuveitis	A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.	mondoexuq1wtf	panuveitis|total uveitis|panuveitis (disease)|diffuse uveitis		panuveitis (disease)								MONDO:0006885	HP:0012121|ICD10:H44.1|MedDRA:10033687|DOID:12030|COHD:439014|ICD9:360.12|EFO:1001082|GARD:0008577|ICD10:H44.11|Orphanet:280898|SCTID:75614007|NCIT:C84989|MESH:D015864																		owl:Class
MONDO:0009526	biolink:NamedThing	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome		mondoexuq1wtf	limb deficiency-heart malformation syndrome|terminal transverse defects of the limbs associated with congenital heart malformations|FATCO syndrome|fibular aplasia-tibial campomelia-oligosyndactyly syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome											GARD:0002622|OMIM:246570|UMLS:CN776928|Orphanet:480773|UMLS:C1855499																		owl:Class
MONDO:0007199	biolink:NamedThing	blepharochalasis, superior		mondoexuq1wtf	blepharochalasis, superior											OMIM:110000|UMLS:C1862275|MESH:C566223																		owl:Class
MONDO:0018273	biolink:NamedThing	XYLT1-CDG		mondoexuq1wtf	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation											ICD10:E77.8|UMLS:CN204859|Orphanet:370930																		owl:Class
MONDO:0008283	biolink:NamedThing	Cronkhite-Canada syndrome	Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.	mondoexuq1wtf	gastric Cronkhite Canada polyposis|gastrointestinal polyposis-ectodermal changes syndrome|Cronkhite-Canada disease|gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|Cronkhite-Canada syndrome|polyposis, skin pigmentation, alopecia, and fingernail changes|polyposis skin pigmentation alopecia fingernail changes											DOID:6225|SCTID:76304001|OMIM:175500|Orphanet:2930|NCIT:C7035|MedDRA:10062907|GARD:0004427|UMLS:C0282207|ICD10:D12.6|MESH:D044483														https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease				owl:Class
MONDO:0012171	biolink:NamedThing	marfanoid habitus with situs inversus		mondoexuq1wtf	marfanoid habitus with situs inversus											MESH:C563814|OMIM:609008|UMLS:C1836994																		owl:Class
MONDO:0012834	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 10	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.	mondoexuq1wtf	SLEB10|susceptibility to systemic lupus erythematosus 10|IRF5 systemic lupus erythematosus (disease)|systemic lupus erythematosus (disease) caused by mutation in IRF5|systemic lupus erythematosus, susceptibility to, 10|systemic lupus erythematosus, susceptibility to, type 10											OMIM:612251																		owl:Class
MONDO:0018166	biolink:NamedThing	oral submucous fibrosis	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.	mondoexuq1wtf	OSMF|oral cavity submucous fibrosis|oral submucosal fibrosis|oral submucosal fibrosis, including of tongue											EFO:1001818|DOID:5773|SCTID:32883009|UMLS:C0029171|ICD9:528.8|Orphanet:357154|ICD10:K13.5|MESH:D009914|NCIT:C34866|GARD:0007264|UMLS:C0029172														https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis				owl:Class
MONDO:0024489	biolink:NamedThing	general tumor grading characteristic	A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.	mondoexuq1wtf	disease grade qualifier											NCIT:C28076																		owl:Class
MONDO:0004185	biolink:NamedThing	ovarian serous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.	mondoexuq1wtf	ovarian serous cystadenofibroma|ovary serous cystadenofibroma											UMLS:C0877572|DOID:7320|NCIT:C40032																		owl:Class
MONDO:0003464	biolink:NamedThing	cystadenofibroma	A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.	mondoexuq1wtf	cystadenofibroma											MESH:D062625|NCIT:C8985|DOID:5482																		owl:Class
MONDO:0006182	biolink:NamedThing	digestive system mixed adenoneuroendocrine carcinoma	A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.	mondoexuq1wtf	MANEC|digestive system mixed adenoneuroendocrine carcinoma|digestive system Mixed Adenoneuroendocrine cancer|gastrointestinal MANEC|gastrointestinal mixed Adenoneuroendocrine carcinoma|mixed Adenoneuroendocrine carcinoma											ICDO:8244/3|UMLS:C2987129|EFO:1000219|NCIT:C95406																		owl:Class
MONDO:0015976	biolink:NamedThing	hyper-IgM syndrome without susceptibility to opportunistic infections		mondoexuq1wtf	HIGM without susceptibility to opportunistic infections											UMLS:CN200573|Orphanet:183666|ICD10:D80.5																		owl:Class
MONDO:0003947	biolink:NamedThing	hyper-IgM syndrome	A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.	mondoexuq1wtf	immunodeficiency with hyper-IgM|hyperimmunoglobulin M syndrome					Editor note: consider merging two NCIT classes						SCTID:82286005|COHD:432287|Wikidata:Q1617658|NCIT:C3990|DC:0000222|DOID:0080544|OMIMPS:308230|MESH:D053306|UMLS:C0272236|ICD9:279.05																		owl:Class
MONDO:0014523	biolink:NamedThing	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		mondoexuq1wtf	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus|ACPHD|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome											Orphanet:445062|UMLS:C4015436|OMIM:616192																		owl:Class
MONDO:0015902	biolink:NamedThing	major hypertriglyceridemia	Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.	mondoexuq1wtf												ICD10:E78.1|Orphanet:181425																		owl:Class
MONDO:0021187	biolink:NamedThing	hyperlipidemia		mondoexuq1wtf	hyperlipidemia|lipemia|lipidemias|lipemias|hyperlipemia|lipidemia|hyperlipidemia (disease)|hyperlipemias		hyperlipidemia (disease)									COHD:432867|ICD9:272.4|UMLS:C0020473|UMLS:CN236649|ICD10:E78.5|MESH:D006949|HP:0003077|SCTID:55822004|EFO:0003774																		owl:Class
MONDO:0016658	biolink:NamedThing	8p23.1 microdeletion syndrome	8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.	mondoexuq1wtf	8p23.1 deletion|monosomy 8p23.1|chromosome 8p23.1 deletion|deletion 8p23.1|Del(8)(p23.1)											SCTID:716381003|MESH:C537827|ICD10:Q93.5|GARD:0003769|Orphanet:251071|UMLS:CN201888																		owl:Class
MONDO:0016890	biolink:NamedThing	partial deletion of the short arm of chromosome 8	Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	8p deletion|deletion 8p|partial monosomy of the short arm of chromosome 8|chromosome 8p deletion|8p monosomy|partial monosomy of chromosome 8p|partial monosomy 8p|monosomy 8p|partial deletion of the short arm of chromosome type 8|partial deletion of chromosome 8p											Orphanet:261920|MESH:C537826|GARD:0003768|ICD10:Q93.5																		owl:Class
MONDO:0020049	biolink:NamedThing	autosomal anomaly	A chromosomal anomaly that involves an autosome.	mondoexuq1wtf	autosome chromosomal anomaly|chromosomal anomaly of autosome											Orphanet:98127|UMLS:CN227743																		owl:Class
MONDO:0004272	biolink:NamedThing	urinary bladder tuberculosis	A tuberculosis that involves the urinary bladder.	mondoexuq1wtf	tuberculous cystitis|tuberculosis of bladder, unspecified examination|tuberculosis of bladder|urinary bladder tuberculosis|bladder tuberculous|bladder tuberculosis											ICD9:016.14|ICD9:016.10|UMLS:C0152793|ICD9:016.1|ICD10:A18.12|DOID:754|SCTID:32268008																		owl:Class
MONDO:0009548	biolink:NamedThing	renal hypomagnesemia 5 with ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.	mondoexuq1wtf	bilateral macular coloboma with hypercalciuria|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|FHHNCOI|hypomagnesemia 5, renal, with ocular involvement|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, renal, with ocular involvement|macular coloboma, bilateral, with hypercalciuria|idiopathic hypercalciuria with bilateral macular colobomata|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|FHHNC with severe ocular involvement|Meier Blumberg Imahorn syndrome|Meier-Blumberg-Imahorn syndrome|HOMG5											DOID:0060881|ICD10:E83.4|OMIM:248190|GARD:0003451|MESH:C536148|Orphanet:2196														https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome				owl:Class
MONDO:0020789	biolink:NamedThing	pseudo-TORCH syndrome 1		mondoexuq1wtf	pseudo-TORCH syndrome 1|pseudo-TORCH syndrome type 1|pseudo-TORCH syndrome|PTORCH1											OMIM:251290																		owl:Class
MONDO:0009626	biolink:NamedThing	pseudo-TORCH syndrome	Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	mondoexuq1wtf	congenital intrauterine infection-like syndrome|BLC-PMG|band-like calcification with simplified gyration and polymicrogyria|Baraitser-Brett-Piesowicz syndrome|Baraitser Brett Piesowicz syndrome|Baraitser-Reardon syndrome|BLCPMG|pseudo-TORCH syndrome|microcephaly-intracranial calcification-intellectual disability syndrome|microcephaly - intracranial calcification - intellectual disability|bilateral band-like calcification with polymicrogyria|microcephaly intracranial calcification											Orphanet:1229|SCTID:722390006|DOID:0050656|UMLS:C3489725|GARD:0000815|GARD:0012426|OMIMPS:251290|ICD10:Q87.8																		owl:Class
MONDO:0009330	biolink:NamedThing	hemangiopericytoma, malignant	An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.	mondoexuq1wtf	malignant hemangiopericytoma|hemangiopericytoma, malignant											GARD:0002627|NCIT:C4301|MESH:C562740|UMLS:C0334542|ICDO:9150/3|OMIM:234820																		owl:Class
MONDO:0017806	biolink:NamedThing	15q overgrowth syndrome	15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	mondoexuq1wtf												UMLS:CN203769|Orphanet:314585|ICD10:Q87.3																		owl:Class
MONDO:0019910	biolink:NamedThing	maternal uniparental disomy of chromosome 2	Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	mondoexuq1wtf	UPD(2)mat|maternal uniparental disomy of chromosome type 2											SCTID:766237006|Orphanet:96179|ICD10:Q99.8																		owl:Class
MONDO:0009306	biolink:NamedThing	combined immunodeficiency with skin granulomas		mondoexuq1wtf	Cid due to RAG 1/2 deficiency|CCHIDG|combined cellular and humoral immune defects with granulomas|combined immunodeficiency due to RAG 1/2 deficiency											OMIM:233650|MESH:C567115|Orphanet:157949|UMLS:C2673536|ICD10:D81.1																		owl:Class
MONDO:0016422	biolink:NamedThing	autoimmune polyendocrinopathy type 3	Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.	mondoexuq1wtf	APS type 3|autoimmune polyglandular syndrome type 3|autoimmune polyendocrine syndrome type 3|polyglandular autoimmune syndrome type 3|PAS3|APS3											UMLS:C1535942|SCTID:449731009|ICD9:258.1|UMLS:C3266027|GARD:0010980|Orphanet:227982|ICD10:E31.0																		owl:Class
MONDO:0014705	biolink:NamedThing	craniosynostosis 6	Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.	mondoexuq1wtf	craniosynostosis caused by mutation in ZIC1|craniosynostosis 6|craniosynostosis type 6|ZIC1 craniosynostosis|CRS6											OMIM:616602|UMLS:C4225269																		owl:Class
MONDO:0007355	biolink:NamedThing	uveal coloboma-cleft lip and palate-intellectual disability	Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	mondoexuq1wtf	coloboma, cleft lip/palate and intellectual disability syndrome|COB1|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|coloboma, cleft lip/palate and mental retardation syndrome|coloboma-microphthalmos syndrome|coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|uveal coloboma-cleft lip/palate-mental retardation syndrome|uveal coloboma-cleft lip/palate-intellectual disability syndrome											UMLS:C0795902|DOID:0111249|Orphanet:1473|GARD:0001440|MESH:C535971|OMIM:120433|ICD10:Q12.2																		owl:Class
MONDO:0003197	biolink:NamedThing	granular cell carcinoma	An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.	mondoexuq1wtf	granular cell carcinoma (morphologic abnormality)|granular cell adenocarcinoma|granular cell carcinoma											ICDO:8320/3|DOID:4903|NCIT:C3681|UMLS:C0205644																		owl:Class
MONDO:0010105	biolink:NamedThing	teratoma, pineal		mondoexuq1wtf	teratoma, pineal											MESH:C537401|UMLS:C1848902|OMIM:273120																		owl:Class
MONDO:0016897	biolink:NamedThing	partial deletion of the short arm of chromosome 19		mondoexuq1wtf	partial deletion of the short arm of chromosome type 19|partial monosomy of chromosome 19p|partial monosomy of the short arm of chromosome 19|partial deletion of chromosome 19p											Orphanet:261983|ICD10:Q93.5																		owl:Class
MONDO:0016881	biolink:NamedThing	partial deletion of chromosome 19		mondoexuq1wtf	partial deletion of chromosome type 19|partial monosomy of chromosome 19											Orphanet:261841|ICD10:Q93.5																		owl:Class
MONDO:0005942	biolink:NamedThing	Reye syndrome	An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.	mondoexuq1wtf	Reye's syndrome											EFO:0007467|COHD:375241|Orphanet:3096|ICD9:331.81|DOID:14525|GARD:0007570|SCTID:74351001|NCIT:C34983|MedDRA:10039012|MESH:D012202|UMLS:C0035400|ICD10:G93.7																		owl:Class
MONDO:0017966	biolink:NamedThing	46,XY disorder of gonadal development		mondoexuq1wtf												Orphanet:325118|UMLS:CN227229																		owl:Class
CL:0000788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010203	biolink:NamedThing	intellectual disability, Wolff type	Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	mondoexuq1wtf	WOLFF intellectual disability syndrome|WOLFF mental retardation syndrome|Wolff-Zimmermann syndrome											Orphanet:3080|ICD10:Q87.0|UMLS:C1848439|OMIM:277990|MESH:C537448																		owl:Class
MONDO:0011011	biolink:NamedThing	skeletal dysplasia-epilepsy-short stature syndrome	Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	Gurrieri-Sammito-Bellussi syndrome|intellectual disability, epilepsy, short stature and skeletal dysplasia|mental retardation, epilepsy, short stature and skeletal dysplasia|GURRIERI syndrome											UMLS:C0796046|OMIM:601187|Orphanet:1858|SCTID:715428003|ICD10:Q87.5|GARD:0000350|MESH:C537625																		owl:Class
MONDO:0025690	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome 2		mondoexuq1wtf	MEDS2											OMIM:619278																		owl:Class
MONDO:0018608	biolink:NamedThing	pure autonomic failure	Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.	mondoexuq1wtf	orthostatic hypotension (a symptom)|PAF|idiopathic orthostatic hypotension|idiopathic orthostatic hypotension (a symptom)|Pure dysautonomia|Pure idiopatic dysautonomia|Bradbury Eggleston syndrome|Bradbury-Eggleston syndrome											UMLS:C0393911|UMLS:C2931939|UMLS:CN205091|SCTID:84438001|ICD10:G90.3|MESH:D054970|Orphanet:441|GARD:0010428																		owl:Class
MONDO:0008155	biolink:NamedThing	osteomesopyknosis	Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	mondoexuq1wtf	axial osteosclerosis|osteomesopyknosis											GARD:0000391|MESH:C537792|UMLS:C0432264|SCTID:254125009|Orphanet:2777|ICD10:Q78.2|OMIM:166450														https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis				owl:Class
MONDO:0015371	biolink:NamedThing	linear atrophoderma of Moulin	Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.	mondoexuq1wtf												ICD10:L90.8|Orphanet:140933|UMLS:C1274753|SCTID:403395007																		owl:Class
MONDO:0012233	biolink:NamedThing	Li-Fraumeni syndrome 2	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.	mondoexuq1wtf	Li-Fraumeni syndrome 2|Li-Fraumeni syndrome caused by mutation in CHEK2|LFS2|Li-Fraumeni syndrome type 2|CHEK2 Li-Fraumeni syndrome											DOID:0111504|OMIM:609265|MESH:C563755|UMLS:C1836482																		owl:Class
MONDO:0018875	biolink:NamedThing	Li-Fraumeni syndrome	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).	mondoexuq1wtf	Li-Fraumeni syndrome|Li-Fraumeni familiar cancer susceptibility syndrome|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)|sarcoma, breast, leukaemia and adrenal gland syndrome|SBLA syndrome|Li-Fraumeni familial cancer susceptibility syndrome|sarcoma family syndrome of Li and Fraumeni|Li Fraumeni syndrome											SCTID:428850001|GARD:0006902|ICD10:D48.9|NCIT:C3476|Orphanet:524|DOID:3012|ICD9:V84.01|OMIMPS:151623|MedDRA:10066795|UMLS:C0085390|MESH:D016864																		owl:Class
MONDO:0011836	biolink:NamedThing	thyroid Hurthle cell carcinoma		mondoexuq1wtf	thyroid carcinoma, Hurthle cell|follicular thyroid cancer, Hurthle cell type|Hurthle cell thyroid cancer|thyroid cancer, Hurthle cell|oncocytic carcinoma of the thyroid|thyroid cancer, follicular, Hurthle cell type|Hurthle cell thyroid neoplasia											OMIM:607464|SCTID:423158009|DOID:8161|ONCOTREE:THHC|MESH:C536913|GARD:0009428																		owl:Class
MONDO:0032588	biolink:NamedThing	periventricular nodular heterotopia 8		mondoexuq1wtf	PVNH8|PERIVENTRICULAR NODULAR HETEROTOPIA 8											OMIM:618185																		owl:Class
MONDO:0016206	biolink:NamedThing	idiopathic uveal effusion syndrome		mondoexuq1wtf												Orphanet:209956|UMLS:CN200962																		owl:Class
MONDO:0017258	biolink:NamedThing	idiopathic panuveitis	Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	mondoexuq1wtf												Orphanet:280921|SCTID:766933000|ICD10:H44.1																		owl:Class
MONDO:0002905	biolink:NamedThing	mutism	The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)	mondoexuq1wtf	mutism|mutism (disease)		mutism (disease)									HP:0002300|DOID:4189|MESH:D009155|UMLS:C0026884																		owl:Class
MONDO:0016271	biolink:NamedThing	adenoid cystic carcinoma of the corpus uteri	A adenoid cystic carcinoma that involves the body of uterus.	mondoexuq1wtf	body of uterus adenoid cystic carcinoma|endometrial adenoid cystic carcinoma											Orphanet:213741|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.0|ICD10:C54.1																		owl:Class
MONDO:0003581	biolink:NamedThing	ovarian embryonal carcinoma	An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.	mondoexuq1wtf	embryonal carcinoma of the ovary|embryonal carcinoma of ovary|embryonal carcinoma|ovary embryonal carcinoma|ovarian embryonal carcinoma											NCIT:C8108|SCTID:254872007|UMLS:C0346183|DOID:5681|EFO:1000415|ONCOTREE:OEC																		owl:Class
MONDO:0000984	biolink:NamedThing	thalassemia	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	mondoexuq1wtf	thalassemia Hb-S disease without crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease with crisis|sickle-cell thalassemia with crisis											COHD:30978|ICD9:282.40|GARD:0007756|SCTID:40108008|ICD10:D56|ICD9:282.4|ICD9:282.49|NCIT:C35069|ICD10:D56.9|DOID:10241|EFO:1001996|UMLS:C0039730|MESH:D013789																		owl:Class
MONDO:0006814	biolink:NamedThing	iritis	Inflammation of the iris.	mondoexuq1wtf	iritis|iritis (disease)|inflammation of iris|iris inflammation		iritis (disease)									HP:0001101|SCTID:65074000|MESH:D007500|MedDRA:10022955|NCIT:C50621|DOID:1406|EFO:1000997|UMLS:C0022081																		owl:Class
MONDO:0002289	biolink:NamedThing	iris disease	A disease involving the iris.	mondoexuq1wtf	iris disorder|iris disease or disorder|disorder of iris|disease or disorder of iris|iris disease|disease of iris											MESH:D007499|UMLS:C0022078|NCIT:C34737|SCTID:85478004|DOID:240																		owl:Class
MONDO:0008753	biolink:NamedThing	alkaptonuria	Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).	mondoexuq1wtf	aku|alkaptonuria|ochronosis, hereditary|homogentisate 1,2-dioxygenase deficiency|alkaptonuric ochronosis|homogentisic acid oxidase deficiency|deficiency of homogentisicase|alcaptonuria|hereditary ochronosis|homogentisic acidura											SCTID:360378009|MESH:D000474|Orphanet:56|UMLS:C0002066|ICD10:E70.29|MedDRA:10001689|OMIM:203500|UMLS:C2931645|GARD:0005775|ICD9:270.2|ICD10:E70.2|DOID:9270|NCIT:C84546														https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria				owl:Class
MONDO:0004283	biolink:NamedThing	vulvar clear cell hidradenocarcinoma	A vulvar sweat gland carcinoma characterized by the presence of clear cells.	mondoexuq1wtf	vulvar clear cell hidradenocarcinoma											NCIT:C40307|UMLS:C1520076|DOID:7567																		owl:Class
MONDO:0004447	biolink:NamedThing	pituitary stalk meningioma	A meningioma that affects the pituitary stalk.	mondoexuq1wtf	meningioma of pituitary stalk|meningioma (disease) of pituitary stalk|pituitary stalk meningioma (disease)|meningioma of the pituitary stalk											DOID:8058|UMLS:C1335422|NCIT:C5311																		owl:Class
MONDO:0005017	biolink:NamedThing	diffuse gastric adenocarcinoma	An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.	mondoexuq1wtf	carcinoma, diffuse type (morphologic abnormality)|diffuse stomach adenocarcinoma|diffuse gastric adenocarcinoma|carcinoma, diffuse type|gastric diffuse adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse type stomach adenocarcinoma|adenocarcinoma of linitis plastica type|stomach diffuse type adenocarcinoma|diffuse adenocarcinoma of stomach|adenocarcinoma of the linitis plastica type											DOID:6217|NCIT:C9159|EFO:0000402|ONCOTREE:DSTAD																		owl:Class
MONDO:0012916	biolink:NamedThing	chromosome 2p16.1-p15 deletion syndrome	2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	mondoexuq1wtf	2p15p16.1 microdeletion syndrome|Del(2)(p15p16.1)|2p15-p16.1 microdeletion syndrome|chromosome 2p16.1-p15 deletion syndrome|monosomy 2p15p16.1|monosomy 2p15-p16.1											UMLS:C4304538|SCTID:719651000|GARD:0013391|Orphanet:261349|ICD10:Q93.5|UMLS:C2675875|MESH:C567289|OMIM:612513|DOID:0060415																		owl:Class
MONDO:0033258	biolink:NamedThing	deafness, autosomal dominant 71		mondoexuq1wtf	DFNA71|deafness, autosomal dominant 71|autosomal dominant nonsyndromic deafness 71											OMIM:617605|DOID:0080267																		owl:Class
MONDO:0000151	biolink:NamedThing	symphalangism		mondoexuq1wtf												DC:0000599|SCTID:253975004																		owl:Class
MONDO:0007510	biolink:NamedThing	Clouston syndrome	Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.	mondoexuq1wtf	Clouston's syndrome|hidrotic ectodermal dysplasia, autosomal dominant|Clouston syndrome|hidrotic ectodermal dysplasia syndrome|ectodermal dysplasia, hidrotic, 2, formerly|autosomal dominant hidrotic ectodermal dysplasia|Clouston's hidrotic ectodermal dysplasia|palmoplantar hyperkeratosis and alopecia|ED2|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|Patel Bixler syndrome|ectodermal dysplasia, hidrotic|ectodermal dysplasia, hidrotic, 2|Clouston hidrotic ectodermal dysplasia|ectodermal dysplasia 2, Clouston type											ICD10:Q82.8|GARD:0002056|Orphanet:189|SCTID:54209007|OMIM:129500|DOID:14693|GARD:0004253																		owl:Class
MONDO:0044975	biolink:NamedThing	disease of transporter activity		mondoexuq1wtf																														owl:Class
MONDO:0006462	biolink:NamedThing	thyroid gland diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma primarily involving the thyroid gland.	mondoexuq1wtf	diffuse large B-cell lymphoma of thyroid|thyroid gland diffuse large B-cell lymphoma|thyroid diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of the thyroid gland|diffuse large B-cell lymphoma of the thyroid|primary thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid gland											NCIT:C6046|EFO:1000587|UMLS:C1336749																		owl:Class
MONDO:0001165	biolink:NamedThing	tongue disease	A disease involving the tongue.	mondoexuq1wtf	disorder of tongue|tongue disease or disorder|tongue disease|disease of tongue|disease or disorder of tongue											DOID:10944|ICD9:529.9|ICD10:K14.9|UMLS:C0040409|SCTID:69244009|ICD9:529.8|ICD10:K14|MESH:D014060																		owl:Class
MONDO:0018612	biolink:NamedThing	congenital hypothyroidism	Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.	mondoexuq1wtf	infantile hypothyroidism|cretinism|congenital goiter|congenital hypothyroidism not due to iodine deficiency|congenital hypothyroidism|fetal iodine deficiency syndrome|congenital iodine deficiency syndrome											UMLS:C0010308|ICD9:243|Orphanet:442|GARD:0001487|SCTID:217710005|ICD9:269.3|NCIT:C26734|ICD10:E03.0|MESH:D003409|ICD9:759.89|ICD10:E00.2|DOID:0050328|ICD10:E03.1|SCTID:190268003|ICD10:E00.1|ICD10:E00.0|MedDRA:10010510|ICD10:E00.9																		owl:Class
MONDO:0005420	biolink:NamedThing	hypothyroidism	Abnormally low levels of thyroid hormone.	mondoexuq1wtf	underactive thyroid|thyroid deficiency|thyroid insufficiency|hypothyroid|hypothyroidism											ICD10:E03.9|EFO:0004705|MESH:D007037|COHD:140673|DOID:1459|SCTID:40930008|NCIT:C26800|ICD9:244.9																		owl:Class
MONDO:0013922	biolink:NamedThing	Seckel syndrome 7	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	mondoexuq1wtf	Seckel syndrome type 7|NIN Seckel syndrome|Seckel syndrome caused by mutation in NIN|microcephalic primordial dwarfism, Dauber type|SCKL7|Seckel syndrome 7					ORDO calls this microcephalic primordial dwarfism, Dauber type						Orphanet:319675|DOID:0070011|ICD10:Q87.1|UMLS:C3553870|OMIM:614851																		owl:Class
MONDO:0002159	biolink:NamedThing	fallopian tube leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of fallopian tube|fallopian tube leiomyosarcoma											NCIT:C40128|UMLS:C1517116|DOID:1965																		owl:Class
MONDO:0002162	biolink:NamedThing	fallopian tube adenosarcoma	An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.	mondoexuq1wtf	fallopian tube mullerian adenosarcoma|fallopian tube adenosarcoma|adenosarcoma of fallopian tube|fallopian tube Mullerian adenosarcoma|fallopian tube Müllerian adenosarcoma											UMLS:C1517121|DOID:1973|NCIT:C40125																		owl:Class
MONDO:0011968	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2D	Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.	mondoexuq1wtf	muscular dystrophy limb-girdle with alpha-sarcoglycan|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|Duchenne-like autosomal recessive muscular dystrophy, type 2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|Alpha-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2D|primary adhalinopathy|limb-girdle muscular dystrophy type 2D|Adhalinopathy, primary|DMDA2|SGCA autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2D|LGMD2D|Duchenne-like autosomal recessive muscular dystrophy type 2											DOID:0110278|GARD:0000438|ICD10:G71.0|NCIT:C142081|Orphanet:62|SCTID:715340002|OMIM:608099																		owl:Class
MONDO:0025377	biolink:NamedThing	African swine fever	A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).	mondoexuq1wtf	swine fever, African|wart-Hog diseases|wart Hog disease|wart-Hog disease											MESH:D000357|UMLS:C0001752																		owl:Class
MONDO:0013791	biolink:NamedThing	thrombophilia due to protein S deficiency, autosomal recessive		mondoexuq1wtf	thrombophilia due to protein S deficiency, autosomal recessive|thrombophilia due to PROTEIN S deficiency, autosomal recessive|THPH6											OMIM:614514|UMLS:C3281092																		owl:Class
MONDO:0019144	biolink:NamedThing	hereditary thrombophilia due to congenital protein S deficiency	Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.	mondoexuq1wtf	autosomal recessive thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency											Orphanet:743|ICD10:D68.5																		owl:Class
MONDO:0017052	biolink:NamedThing	intermediate maple syrup urine disease	Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.	mondoexuq1wtf	Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|Intermediate BCKD deficiency|Intermediate MSUD|Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency											SCTID:405287008|ICD10:E71.0|Orphanet:268162																		owl:Class
MONDO:0009499	biolink:NamedThing	Krabbe disease	Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.	mondoexuq1wtf	globoid cell leukoencephalopathy|diffuse globoid body sclerosis|GALC deficiency|Krabbe disease|galactosylceramidase deficiency|Krabbe leukodystrophy|galactosylceramide Beta-galactosidase deficiency|beta galactocerebrosidase deficiency|GLD|galactocerebrosidase deficiency|Krabbe's disease|Krabbe's leukodystrophy|galactosylceramide lipidosis|globoid cell leukodystrophy					Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137]						OMIM:245200|Orphanet:487|MedDRA:10023492|MESH:D007965|UMLS:C0023521|ICD10:E75.23|NCIT:C61254|DOID:10587|SCTID:189979005|ICD10:E75.2|GARD:0006844																		owl:Class
MONDO:0006790	biolink:NamedThing	hypercementosis	A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)	mondoexuq1wtf	cementation hyperplasia											GARD:0006692|DOID:12733|ICD10:K03.4|MESH:D006936|ICD9:521.5|UMLS:C0020441|COHD:442576|SCTID:78537008|MedDRA:10020596|EFO:1000970														https://rarediseases.info.nih.gov/diseases/6692/hypercementosis				owl:Class
MONDO:0020805	biolink:NamedThing	benign basal cell neoplasm	A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.	mondoexuq1wtf	benign basal cell tumor											NCIT:C4743																		owl:Class
MONDO:0008640	biolink:NamedThing	vasculitis, lymphocytic, nodular	Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.	mondoexuq1wtf	lymphocytic vasculitis|vasculitis, lymphocytic, nodular|vasculitis lymphocytic, nodular											UMLS:C1860519|MESH:C566008|GARD:0006941|OMIM:192310														https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis				owl:Class
MONDO:0010302	biolink:NamedThing	Ito hypomelanosis	Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.	mondoexuq1wtf	IPA|hi syndrome|pigmentary mosaicism, Ito type|Ito|Incontinentia pigmenti, type I|Incontinentia pigmenti type 1 (formerly)|Incontinentia pigmenti achromians|HMI|Incontinentia pigmenti type 1|Ito hypomelanosis|Incontinentia pigmenti, type I, formerly|hypomelanosis of Ito											DOID:3156|GARD:0002992|Orphanet:435|OMIM:300337|ICD10:Q87.8																		owl:Class
MONDO:0006012	biolink:NamedThing	viral pneumonia	Inflammation of the lung parenchyma that is caused by a viral infection.	mondoexuq1wtf	Viruses caused pneumonia|Viruses pneumonia											ICD9:480.9|MESH:D011024|UMLS:C0032310|COHD:261326|SCTID:75570004|ICD10:J12.9|EFO:0007541|DOID:10533|ICD9:480.8|ICD9:480																		owl:Class
MONDO:0043475	biolink:NamedThing	Adams-Stokes syndrome	An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.	mondoexuq1wtf	Adam Stokes attacks|Stokes-Adams-morgagni syndrome|syndrome, Stokes-Adams|attacks, Adam-Stokes|syndrome, Adams-Stokes|Stokes-Adams syndrome|Stokes Adams attacks|Adams Stokes syndrome|Stokes Adams syndrome|Adam-Stokes attacks|Stokes-Adams attacks|attacks, Stokes-Adams											EFO:1001259|UMLS:C0001396|MESH:D000219|NCIT:C79765|SCTID:46935006																		owl:Class
MONDO:0018276	biolink:NamedThing	muscular dystrophy-dystroglycanopathy		mondoexuq1wtf	CMD due to dystroglycanopathy|congenital muscular dystrophy due to dystroglycanopathy											ICD10:G71.2|UMLS:CN229783|Orphanet:370953|DOID:0050588|GARD:0012584																		owl:Class
MONDO:0011226	biolink:NamedThing	autosomal dominant nonsyndromic deafness 15	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.	mondoexuq1wtf	deafness, autosomal dominant type 15|autosomal dominant deafness 15|POU4F3 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|autosomal dominant nonsyndromic deafness type 15|DFNA15|deafness, autosomal dominant 15											MESH:C566545|UMLS:C1865366|DOID:0110546|ICD10:H90.3|OMIM:602459																		owl:Class
MONDO:0001735	biolink:NamedThing	paranasal sinus disease	A disease involving the paranasal sinus.	mondoexuq1wtf	disorder of paranasal sinus|disorder of nasal sinus|paranasal sinus disorder|disease of paranasal sinus|paranasal sinus disease or disorder|sinus disorder|paranasal sinus disease|disease or disorder of paranasal sinus											DOID:1352|NCIT:C26843|UMLS:C0030469|SCTID:7393007|ICD9:478.1|MESH:D010254																		owl:Class
MONDO:0024654	biolink:NamedThing	skull disorder	A non-neoplastic or neoplastic disorder that affects structures of the skull.	mondoexuq1wtf	disorder of skull|skull disorder|skull disease|disease or disorder of skull|disease of skull|skull disease or disorder											UMLS:C1290854|SCTID:118945008|NCIT:C27655																		owl:Class
MONDO:0018341	biolink:NamedThing	3q27.3 microdeletion syndrome	3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	mondoexuq1wtf	Del(3)(q27.3)											Orphanet:397695|UMLS:CN225942|ICD10:Q93.5																		owl:Class
MONDO:0009071	biolink:NamedThing	hereditary renal hypouricemia	Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).	mondoexuq1wtf	Dalmatian hypouricemia|renal hypouricemia|hypouricemia, renal											SCTID:236478009|ICD9:790.6|Orphanet:94088|MESH:C537757|GARD:0009496																		owl:Class
MONDO:0008447	biolink:NamedThing	hereditary spherocytosis type 1	Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.	mondoexuq1wtf	spherocytosis, type 1|Sph|SPH1|spherocytosis, hereditary, 1|hereditary spherocytosis 1|HS1|hereditary spherocytosis caused by mutation in ANK1|ANK1 hereditary spherocytosis											OMIM:182900|DOID:0110916|UMLS:C2674218																		owl:Class
MONDO:0019350	biolink:NamedThing	hereditary spherocytosis	Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.	mondoexuq1wtf	congenital spherocytosis|congenital spherocytic hemolytic anemia|spherocytic anemia|Minkowski Chauffard syndrome|Minkowski-Chauffard disease											DOID:12971|NCIT:C97074|MedDRA:10019904|GARD:0006639|COHD:24909|UMLS:CN206031|Orphanet:822|UMLS:C0037889|SCTID:55995005|MESH:D013103|ICD9:282.0|ICD10:D58.0														https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis				owl:Class
MONDO:0012803	biolink:NamedThing	diarrhea-vomiting due to trehalase deficiency	This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.	mondoexuq1wtf	isolated trehalose intolerance|trehalase deficiency|trehalose intolerance											ICD10:E74.3|GARD:0010372|MESH:C562603|SCTID:84193000|Orphanet:103909|OMIM:612119|ICD9:271.8|UMLS:C0268187																		owl:Class
MONDO:0060677	biolink:NamedThing	chromosome 1p35 deletion syndrome		mondoexuq1wtf	chromosome 1p35 deletion syndrome											OMIM:617930|UMLS:CN244562																		owl:Class
MONDO:0016883	biolink:NamedThing	partial deletion of the short arm of chromosome 1	Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial monosomy of the short arm of chromosome 1|loss of chromosome 1p|deletion 1p|chromosome 1p deletion|partial deletion of chromosome 1p|partial deletion of the short arm of chromosome type 1|del(1p)|partial monosomy 1p|partial monosomy of chromosome 1p|monosomy 1p|1p monosomy|1p deletion											ICD10:Q93.5|GARD:0003730|MESH:C535591|NCIT:C36501|Orphanet:261857|UMLS:C0795796																		owl:Class
MONDO:0012115	biolink:NamedThing	scoliosis, isolated, susceptibility to, 3		mondoexuq1wtf	scoliosis, isolated, susceptibility to, 3|IS3											OMIM:608765																		owl:Class
MONDO:0022715	biolink:NamedThing	Chiari malformation type 3		mondoexuq1wtf	Chiari type III malformation|Arnold Chiari malformation type III|Chiari malformation type III											GARD:0009233|SCTID:253186001														https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3				owl:Class
MONDO:0011847	biolink:NamedThing	migraine without aura, susceptibility to, 4	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.	mondoexuq1wtf	migraine without aura, susceptibility to, type 4|MGOA|migraine without aura, susceptibility to, 4|MGR4|common migraine											ICD10:G43.009|EFO:0005296|SCTID:56097005|ICD9:346.1|NCIT:C117004|OMIM:607501|DOID:12783|ICD10:G43.0|UMLS:C0338480|COHD:378735|MESH:D020326|HP:0002083																		owl:Class
MONDO:0021335	biolink:NamedThing	carcinoma of duodenum	A carcinoma that involves the duodenum.	mondoexuq1wtf	duodenal cancer|cancer of the duodenum|carcinoma of the duodenum|duodenal carcinoma|duodenum carcinoma|cancer of duodenum|carcinoma of duodenum											NCIT:C4803|SCTID:254570009																		owl:Class
MONDO:0000920	biolink:NamedThing	duodenum cancer	A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	cancer of duodenum|malignant neoplasm of duodenum|malignant duodenum neoplasm|malignant duodenal neoplasm|duodenum cancer|duodenal cancer|malignant duodenal tumor|malignant tumor of the duodenum|malignant tumor of duodenum|malignant neoplasm of the duodenum											MESH:D004379|DOID:10021|ICD9:152.0|NCIT:C9328|ICD10:C17.0|SCTID:363403002																		owl:Class
MONDO:0011151	biolink:NamedThing	exudative vitreoretinopathy 4		mondoexuq1wtf	exudative vitreoretinopathy 4|EVR4|exudative vitreoretinopathy type 4											OMIM:601813|DOID:0111411|MESH:C566619|UMLS:C1866176																		owl:Class
MONDO:0007749	biolink:NamedThing	autosomal recessive infantile hypercalcemia	A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.	mondoexuq1wtf	autosomal recessive hypercalcemia, infantile|familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, infantile|hypercalcemia, infantile, autosomal recessive|hypercalcemia, idiopathic, of infancy|idiopathic infantile hypercalcemia											ICD10:E83.5|UMLS:CN203398|NCIT:C129734|Orphanet:300547|UMLS:C4329374|SCTID:34225008																		owl:Class
MONDO:0000212	biolink:NamedThing	hypercalcemia, infantile	A hypercalcemia disease that occurs between 28 days to one year of life..	mondoexuq1wtf	hypercalcemia disease of infancy|infantile hypercalcemia disease|infantile hypercalcemia|infantile onset hypercalcemia disease											OMIMPS:143880|SCTID:276645004|DC:0000724|MESH:C562999																		owl:Class
MONDO:0000543	biolink:NamedThing	ovarian melanoma	A melanoma (disease) that involves the ovary.	mondoexuq1wtf	ovary metastatic melanoma|melanoma (disease) of ovary|ovary melanoma (disease)|metastatic melanoma of ovary											DOID:0050928																		owl:Class
MONDO:0003384	biolink:NamedThing	uterine ligament clear cell adenocarcinoma	A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.	mondoexuq1wtf	uterine ligament clear cell adenocarcinoma											UMLS:C1519867|NCIT:C40139|DOID:5302																		owl:Class
MONDO:0006135	biolink:NamedThing	cervical clear cell adenocarcinoma	A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).	mondoexuq1wtf	clear cell carcinoma of uterine cervix|clear cell adenocarcinoma of the cervix uteri|clear cell carcinoma of cervix uteri|clear cell carcinoma of the cervix|cervix clear cell carcinoma|clear cell carcinoma of cervix|cervical clear cell carcinoma|cervix uteri clear cell carcinoma|clear cell adenocarcinoma of the cervix|uterine cervix clear cell carcinoma|clear cell adenocarcinoma of uterine cervix|clear cell adenocarcinoma of the uterine cervix|cervical clear cell adenocarcinoma|cervix clear cell adenocarcinoma|clear cell carcinoma of the cervix uteri|uterine cervix clear cell adenocarcinoma|cervix uteri clear cell adenocarcinoma|clear cell adenocarcinoma of cervix|clear cell carcinoma of the uterine cervix|clear cell adenocarcinoma of cervix uteri											EFO:1000163|UMLS:C1332912|ONCOTREE:CECC|NCIT:C6344|DOID:5303																		owl:Class
MONDO:0010871	biolink:NamedThing	succinic acidemia		mondoexuq1wtf	succinic acidemia											MESH:C563952|UMLS:C1838243|Orphanet:936|OMIM:600335																		owl:Class
MONDO:0006922	biolink:NamedThing	Anaplasmataceae infectious disease	Infections with bacteria of the family anaplasmataceae.	mondoexuq1wtf	Anaplasmataceae infection|infection, Anaplasmataceae|Haemobartonelloses|Haemobartonellosis|infections, Anaplasmataceae|Anaplasmataceae disease or disorder|Anaplasmataceae caused disease or disorder											SCTID:422167001|EFO:1001123|MESH:D000711																		owl:Class
MONDO:0023644	biolink:NamedThing	lip and oral cavity carcinoma	A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.	mondoexuq1wtf	lip and oral cavity cancer|lip and oral cavity carcinoma|oral cancer|oral carcinoma											GARD:0009360|NCIT:C9315|UMLS:C0220641|GARD:0009342														https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer				owl:Class
MONDO:0013999	biolink:NamedThing	optic nerve edema-splenomegaly syndrome	Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	mondoexuq1wtf	splenomegaly, cytopenia, and vision loss											Orphanet:313800|UMLS:C3554278|OMIM:614979																		owl:Class
MONDO:0020681	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type 1		mondoexuq1wtf	Ehlers-Danlos syndrome, musculocontractural type, 1|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|EDSMC1|adducted thumb-clubfoot syndrome|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|EDSMC|Dundar syndrome|Ehlers-Danlos syndrome, type Vib											NCIT:C168975|OMIM:601776																		owl:Class
MONDO:0023041	biolink:NamedThing	ectodermal dysplasia Berlin type		mondoexuq1wtf												GARD:0002044														https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type				owl:Class
MONDO:0033479	biolink:NamedThing	spinocerebellar ataxia 44		mondoexuq1wtf	SCA44|spinocerebellar ataxia 44											DOID:0080286|OMIM:617691|UMLS:CN492437																		owl:Class
MONDO:0014414	biolink:NamedThing	STAT3-related early-onset multisystem autoimmune disease		mondoexuq1wtf	ADMIO|autoimmune disease, multisystem, infantile-onset, 1|ADMIO1|autoimmune disease, multisystem, infantile-onset											OMIM:615952|UMLS:C4014795|Orphanet:438159|ICD10:M35.8																		owl:Class
MONDO:0011887	biolink:NamedThing	cataract, congenital, with mental impairment and dentate gyrus atrophy		mondoexuq1wtf	cataract, congenital, with mental impairment and dentate gyrus atrophy											MESH:C564353|OMIM:607674|UMLS:C1843257																		owl:Class
MONDO:0005774	biolink:NamedThing	glanders	A condition resulting from infection by Burkholderia mallei, which mainly affects horses.	mondoexuq1wtf	Burkholderia mallei infectious disease|farcy pipes|infection due to Pseudomonas mallei|Burkholderia mallei caused disease or disorder|Burkholderia mallei disease or disorder|Burkholderia mallei|Burkholderia mallei infection											COHD:437492|NCIT:C34638|EFO:0007286|GARD:0009536|ICD10:A24.0|ICD9:024|UMLS:C0017589|SCTID:4639008|DOID:13444|MESH:D005896														https://rarediseases.info.nih.gov/diseases/9536/glanders				owl:Class
MONDO:0011168	biolink:NamedThing	type 1 diabetes mellitus 10	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.	mondoexuq1wtf	IDDM10|diabetes mellitus, insulin-dependent, type 10|type 1 diabetes mellitus caused by mutation in IL2RA|IL2RA type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, 10|insulin-dependent diabetes mellitus 10											DOID:0110749|MESH:C566602|ICD10:E10|OMIM:601942|UMLS:C1866040																		owl:Class
MONDO:0012282	biolink:NamedThing	Al-Gazali syndrome	An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.	mondoexuq1wtf	Al-Gazali syndrome|Al Gazali syndrome|Al Gazali Al Talabani syndrome|eye defects arachnodactyly cardiopathy											UMLS:C1836121|OMIM:609465|GARD:0010054|MESH:C536817|Orphanet:2725														https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome				owl:Class
MONDO:0019715	biolink:NamedThing	syndrome with synostosis or other joint formation defect		mondoexuq1wtf												UMLS:CN206620|Orphanet:93459																		owl:Class
MONDO:0018065	biolink:NamedThing	isolated trigonocephaly	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.	mondoexuq1wtf	non-syndromic metopic craniosynostosis|nonsyndromic trigonocephaly											Orphanet:3366|OMIMPS:190440|UMLS:CN236409|UMLS:CN239481|ICD10:Q75.0																		owl:Class
MONDO:0000156	biolink:NamedThing	trigonocephaly		mondoexuq1wtf	trigonocephalus|trigonocephalia|trigonocephaly|trigonocephaly, isolated											DC:0000606|SCTID:28740008																		owl:Class
MONDO:0003910	biolink:NamedThing	mixed cell uveal melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.	mondoexuq1wtf	mixed cell uveal melanoma											EFO:1000380|UMLS:C1334782|DOID:6522|NCIT:C35781																		owl:Class
MONDO:0010628	biolink:NamedThing	immunoglobulin M, level of		mondoexuq1wtf	immunoglobulin M, level of											OMIM:308250																		owl:Class
MONDO:0002993	biolink:NamedThing	pancreatic somatostatinoma	A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.	mondoexuq1wtf	pancreatic somatostatin cell tumor|pancreatic delta cell somatostatin producing neoplasm											NCIT:C95595|EFO:1001964|DOID:4432|UMLS:C1368041																		owl:Class
MONDO:0002994	biolink:NamedThing	pancreatic delta cell neuroendocrine tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).	mondoexuq1wtf	pancreatic Delta cell tumor|pancreatic delta cell neoplasm|pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET											NCIT:C28396|DOID:4433|UMLS:C1335301																		owl:Class
MONDO:0008835	biolink:NamedThing	asthma, short stature, and elevated IgA		mondoexuq1wtf	asthma, short stature, and elevated IgA											OMIM:208600|MESH:C565934|UMLS:C1859647																		owl:Class
MONDO:0008428	biolink:NamedThing	septooptic dysplasia	Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.	mondoexuq1wtf	septo-optic dysplasia sequence|septo-optic dysplasia|septo-optic dysplasia spectrum|hypopituitarism and septooptic 'dysplasia'|SOD|septooptic dysplasia|De Morsier syndrome|septo-optic dysplasia with growth hormone deficiency|pituitary hormone deficiency, combined, 5|Growth hormone deficiency with pituitary anomalies											Orphanet:3157|SCTID:7611002|OMIM:182230|MedDRA:10067159|GARD:0007627|ICD10:Q04.8|MESH:D025962|NCIT:C85063|DOID:0060857|UMLS:C0338503																		owl:Class
MONDO:0000428	biolink:NamedThing	Y-linked disease	Y-linked form of disease.	mondoexuq1wtf	diseases, Y-linked genetic|genetic diseases, Y linked|Y-linked genetic disease|genetic diseases, Y-chromosome linked|genetic disease, Y-linked|Y linked genetic diseases|disease or disorder, Y-linked|Y-linked genetic diseases|disease, Y-linked|genetic diseases, Y chromosome linked|Y-linked disease or disorder|disease, Y-linked genetic											MESH:D050174|DOID:0050738|UMLS:C1563751																		owl:Class
MONDO:0020606	biolink:NamedThing	sex-linked disease		mondoexuq1wtf	sex-linked hereditary disorder											SCTID:82852009|ICD9:758.81																		owl:Class
MONDO:0004712	biolink:NamedThing	herpes simplex dermatitis	Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.	mondoexuq1wtf	herpes simplex virus eyelid dermatitis|Herpes simplex dermatitis of eyelid|eczema herpeticum|Simplexvirus caused dermatitis|Herpes simplex eyelid dermatitis|eczema herpeticum (disorder) [ambiguous]|herpes simplex dermatitis|Simplexvirus dermatitis|Herpes simplex dermatitis|Herpes simplex virus dermatitis											MESH:D007617|ICD10:B00.0|NCIT:C35620|DOID:9123|UMLS:C0854331|SCTID:186535001|ICD9:054.41|ICD9:054.0																		owl:Class
MONDO:0012490	biolink:NamedThing	cone-rod synaptic disorder, congenital nonprogressive		mondoexuq1wtf	night blindness, congenital stationary, incomplete, autosomal recessive|night blindness, congenital stationary, incomplete, autosomal recessive, formerly|night blindness, congenital stationary, type 2B|night blindness, congenital stationary, type 2B, formerly|CRSD|cone-rod synaptic disorder, congenital nonprogressive											UMLS:C1864877|OMIM:610427																		owl:Class
MONDO:0003097	biolink:NamedThing	childhood mediastinal neurogenic neoplasm		mondoexuq1wtf	pediatric mediastinal neurogenic tumor|childhood mediastinal neurogenic tumor|pediatric neurogenic neoplasm of mediastinum|pediatric neurogenic tumor of the mediastinum|childhood neurogenic neoplasm of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|childhood neurogenic tumor of mediastinum|childhood mediastinal neurogenic neoplasm|childhood neurogenic tumor of the mediastinum|childhood neurogenic neoplasm of mediastinum|pediatric neurogenic tumor of mediastinum|pediatric mediastinal neurogenic neoplasm											UMLS:C1332981|DOID:4690|NCIT:C5429																		owl:Class
MONDO:0014024	biolink:NamedThing	hereditary spastic paraplegia 43	Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.	mondoexuq1wtf	autosomal recessive spastic paraplegia 43|C19orf12 autosomal recessive complex spastic paraplegia|SPG43|hereditary spastic paraplegia type 43|spastic paraplegia 43, autosomal recessive|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|autosomal recessive spastic paraplegia type 43											ICD10:G11.4|DOID:0110795|OMIM:615043|SCTID:764736001|Orphanet:320370|UMLS:C2680446																		owl:Class
MONDO:0014832	biolink:NamedThing	intellectual disability, autosomal recessive 53		mondoexuq1wtf	PIGG-CDG|mental retardation, autosomal recessive type 53|early-onset epilepsy-intellectual disability-brain anomalies syndrome|GPIBD13|intellectual disability, autosomal recessive 53|intellectual disability, autosomal recessive type 53|MRT53|congenital disorder of glycosylation due to PIGG deficiency|mental retardation, autosomal recessive 53|glycosylphosphatidylinositol biosynthesis defect 13										MONDO:0024253	OMIM:616917|Orphanet:488635|UMLS:C4310794																		owl:Class
MONDO:0020235	biolink:NamedThing	lens size anomaly		mondoexuq1wtf												Orphanet:98652																		owl:Class
MONDO:0013702	biolink:NamedThing	intellectual disability, autosomal recessive 27	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.	mondoexuq1wtf	MRT27|intellectual disability, autosomal recessive 27|intellectual disability, autosomal recessive type 27|LINS1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 27|mental retardation, autosomal recessive type 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1											OMIM:614340|UMLS:C3280538																		owl:Class
MONDO:0014351	biolink:NamedThing	pontocerebellar hypoplasia type 9	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.	mondoexuq1wtf	pontocerebellar hypoplasia, type 9|PCH9|AMPD2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2											OMIM:615809|ICD10:Q04.3|DOID:0060278|UMLS:C4014354|Orphanet:369920																		owl:Class
MONDO:0014371	biolink:NamedThing	developmental and epileptic encephalopathy, 23		mondoexuq1wtf	EIEE23|epileptic encephalopathy, early infantile, 23|epileptic encephalopathy, early infantile, type 23|DEE18|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome											OMIM:615859|UMLS:C4014492|ICD10:G40.4|DOID:0080415|Orphanet:411986																		owl:Class
MONDO:0005524	biolink:NamedThing	sweat gland carcinoma	A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.	mondoexuq1wtf	carcinoma of sweat gland|carcinoma of the sweat gland|sweat gland carcinoma/apocrine eccrine carcinoma|sweat gland carcinoma|carcinoma, sweat gland, malignant											UMLS:C1412016|ONCOTREE:AECA|ICDO:8400/3|NCIT:C6938|DOID:5667|EFO:0005591																		owl:Class
MONDO:0006973	biolink:NamedThing	skin appendage carcinoma	A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.	mondoexuq1wtf	skin appendage carcinoma|carcinoma of skin appendage|carcinoma of adnexa|skin adnexal carcinoma|carcinoma of cutaneous appendage|carcinoma, adnexal, malignant|adnexal carcinoma|cutaneous appendage carcinoma											MedDRA:10040798|ICDO:8390/3|ONCOTREE:SKAC|NCIT:C3775|EFO:1001183|MESH:D018280|UMLS:C0206697																		owl:Class
MONDO:0006710	biolink:NamedThing	complex partial epilepsy	A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)	mondoexuq1wtf	Complex partial epileptic seizure|psychomotor epilepsy|epilepsy, psychomotor											EFO:1000877|UMLS:C0085417|MESH:D017029|SCTID:407675009|DOID:12382|COHD:4236312|ICD9:345.40																		owl:Class
MONDO:0011010	biolink:NamedThing	Matthew-Wood syndrome	Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.	mondoexuq1wtf	microphthalmia, syndromic 9|microphthalmia syndromic 9|anophthalmia-pulmonary hypoplasia syndrome|MCOPS9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|pulmonary agenesis microphthalmi and diaphragmatic defect|Matthew Wood syndrome|anophthalmia/microphthalmia and pulmonary hypoplasia|spear syndrome|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|Matthew-Wood syndrome|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|microphthalmia, syndromic type 9|microphthalmia syndromic type 9|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|microphthalmia, isolated, with coloboma 8|syndromic microphthalmia type 9											SCTID:722458000|GARD:0000713|OMIM:601186|Orphanet:2470|ICD10:Q11.2|DOID:0050819|UMLS:C1832661|MESH:C537768																		owl:Class
MONDO:0018515	biolink:NamedThing	squamous cell carcinoma of rectum	A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	mondoexuq1wtf	rectal squamous cell carcinoma|squamous carcinoma of the rectum|squamous cell carcinoma of the rectum|rectum squamous cell carcinoma|squamous cell carcinoma of rectum|squamous carcinoma of rectum|rectal squamous cell cancer|rectal squamous carcinoma											ICD10:C20|SCTID:766979005|Orphanet:424002|NCIT:C5554|UMLS:C1335690|DOID:5528																		owl:Class
MONDO:0011384	biolink:NamedThing	hypertension, essential, susceptibility to, 1		mondoexuq1wtf	Hyt1|hypertension, essential, susceptibility to, type 1|hypertension, essential, susceptibility to, 1											OMIM:603918																		owl:Class
MONDO:0006898	biolink:NamedThing	periarthritis	Inflammation of the tissues around a joint. (Dorland, 27th ed)	mondoexuq1wtf												UMLS:C0031037|MESH:D010489|ICD10:M77.9|EFO:1001097|MedDRA:10034464|DOID:2964|SCTID:50921008																		owl:Class
MONDO:0008708	biolink:NamedThing	acrocallosal syndrome	Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.	mondoexuq1wtf	Schinzel syndrome 1|Joubert syndrome 12/15, digenic|acrocallosal syndrome, Schinzel type|ACLS|Schinzel acrocallosal syndrome|Joubert syndrome 12|ACS|acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|hallux Duplication, postaxial polydactyly, and absence of corpus callosum											GARD:0005721|DOID:9250|UMLS:C0796147|OMIM:200990|SCTID:715951007|Orphanet:36|MESH:D055673|ICD10:Q04.0|NCIT:C84531																		owl:Class
MONDO:0006578	biolink:NamedThing	mediastinal lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.	mondoexuq1wtf	mediastinal lipomatosis											UMLS:C1334662|DOID:3926|EFO:1000732|NCIT:C27488																		owl:Class
MONDO:0015759	biolink:NamedThing	B-cell non-Hodgkin lymphoma	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003	mondoexuq1wtf	B-cell non Hodgkin's lymphoma|B-cell lymphoma|B-cell non-Hodgkin lymphoma|B-cell non-Hodgkin's lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|lymphomas non-Hodgkin's B-cell|non-Hodgkin's B-cell lymphoma											NCIT:C3457|Orphanet:171915																		owl:Class
MONDO:0015350	biolink:NamedThing	17q11.2 microduplication syndrome	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	mondoexuq1wtf	dup(17)(q11.2)|trisomy 17q11.2|Grisart-Destree syndrome|Grisart-Destrée syndrome											UMLS:CN199408|Orphanet:139474|SCTID:719583002|UMLS:C4304642|ICD10:Q92.3																		owl:Class
MONDO:0016102	biolink:NamedThing	subacute inflammatory demyelinating polyneuropathy	A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).	mondoexuq1wtf	subacute inflammatory demyelinating polyradiculoneuropathy|SIDP											Orphanet:206594|SCTID:277189006|UMLS:C0456517|ICD10:G61.8																		owl:Class
MONDO:0016137	biolink:NamedThing	acute and subacute inflammatory demyelinating polyneuropathy		mondoexuq1wtf	acute and subacute inflammatory demyelinating polyradiculoneuropathy											Orphanet:207038																		owl:Class
MONDO:0011496	biolink:NamedThing	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.	mondoexuq1wtf	Namaqualand hip dysplasia|osteoarthritis with mild chondrodysplasia|OSCDP											UMLS:C1858079|MESH:C565740|OMIM:604864|ICD9:755.63|ICD10:Q77.7|Orphanet:93279|SCTID:254064009																		owl:Class
MONDO:0008154	biolink:NamedThing	osteomas of mandible		mondoexuq1wtf	osteomas of mandible											UMLS:C1833733|MESH:C563485|OMIM:166400																		owl:Class
MONDO:0016582	biolink:NamedThing	congenital mitral malformation		mondoexuq1wtf												GARD:0001495|Orphanet:2447														https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation				owl:Class
MONDO:0020288	biolink:NamedThing	atrioventricular valve anomaly		mondoexuq1wtf												Orphanet:98720																		owl:Class
MONDO:0019341	biolink:NamedThing	tuberous sclerosis complex	Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.	mondoexuq1wtf	Bourneville's syndrome|tuberous sclerosis|Bourneville syndrome											GARD:0007830|GARD:0000946|MedDRA:10045138|ICD10:Q85.1|Orphanet:805																		owl:Class
MONDO:0015209	biolink:NamedThing	non-syndromic gastroduodenal malformation	A gastroduodenal malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated gastroduodenal malformation|nonsyndromic gastroduodenal malformation											Orphanet:108963																		owl:Class
MONDO:0000588	biolink:NamedThing	autoimmune disease of gastrointestinal tract	A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.	mondoexuq1wtf	alimentary part of gastrointestinal system hypersensitivity reaction type II disease|autoimmune disease of alimentary part of gastrointestinal system|alimentary part of gastrointestinal system autoimmune disease											DOID:0060031																		owl:Class
MONDO:0009056	biolink:NamedThing	cutis verticis gyrata and intellectual disability		mondoexuq1wtf	CVG/MR|cutis verticis gyrata-intellectual disability syndrome|cutis verticis gyrata and mental retardation|cutis verticis gyrata and intellectual disability											UMLS:C1857444|Orphanet:1557|OMIM:219300																		owl:Class
MONDO:0024264	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 2	A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.	mondoexuq1wtf	thyroid dysgenesis|CHNG2|resistance to thyrotropin|thyrotropin resistance|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid agenesis|thyroid, ectopic|athyreotic hypothyroidism|hypothyroidism, congenital, nongoitrous, 2|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|hypothyroidism, athyreotic|thyroid hypoplasia|congenital nongoitrous hypothyroidism 2|congenital nongoitrous hypothryoidism 2											DOID:0070124|OMIM:218700|ICD10:E03.1																		owl:Class
MONDO:0024880	biolink:NamedThing	metastatic malignant neoplasm	A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.	mondoexuq1wtf	metastatic cancer|metastatic neoplasm, malignant|malignant metastatic neoplasm|metastatic malignant neoplasm					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						NCIT:C36263																		owl:Class
MONDO:0024881	biolink:NamedThing	secondary malignant neoplasm	A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	mondoexuq1wtf	secondary malignancy|secondary cancer|secondary malignant neoplasm					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						NCIT:C4968|ICD9:199.1|SCTID:128462008|ICD9:198.89																		owl:Class
MONDO:0016120	biolink:NamedThing	myotonic syndrome		mondoexuq1wtf												ICD10:G71.1|Orphanet:206970|MESH:D020967|MedDRA:10028658																		owl:Class
MONDO:0024246	biolink:NamedThing	syringofibroadenoma	A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.	mondoexuq1wtf	eccrine syringofibroadenomatous hyperplasia|syringofibroadenoma|acrosyringeal adenomatosis|acrosyringeal nevus|eccrine syringofibroadenoma of skin|eccrine syringofibroadenoma											UMLS:C1266060|SCTID:403936002|HP:0031018|ICDO:8392/0|UMLS:C0473578|NCIT:C43356																		owl:Class
MONDO:0045058	biolink:NamedThing	ACTH-producing pituitary gland neoplasm	An adenoma or carcinoma of the pituitary gland that produces corticotropin.	mondoexuq1wtf	adrenocorticotropin producing pituitary gland tumor|adrenocorticotropin secreting neoplasm of pituitary|ACTH-secreting tumor of the pituitary|ACTH-producing pituitary tumor|adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting pituitary gland tumor|ACTH producing pituitary gland neoplasm|adrenocorticotropin secreting tumor of pituitary|ACTH-producing pituitary neoplasm|adrenocorticotropin secreting neoplasm of the pituitary|ACTH-producing pituitary gland neoplasm|pituitary corticotropin secreting neoplasm|pituitary corticotropin secreting tumor|ACTH-secreting tumor of pituitary|corticotropin secreting pituitary gland neoplasm											UMLS:C0278862|NCIT:C7909																		owl:Class
MONDO:0009971	biolink:NamedThing	newborn respiratory distress syndrome	Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.	mondoexuq1wtf	NRDS|newborns (RDS), respiratory distress syndrome Of|respiratory distress syndrome in premature infants|RDS of prematurity|RDS|hyaline membrane disease|syndrome Of newborns (RDS), respiratory distress|IRDS|infant acute respiratory distress syndrome|neonatal respiratory distress|RDS Of newborns|respiratory distress syndrome, infant|HMD - hyaline membrane disease|RDS - infants|hyaline Membrane disease|respiratory distress syndrome of newborn|infantile respiratory distress syndrome|respiratory distress syndrome in the newborn|pulmonary hyaline membrane disease|hyaline Membrane disease, formerly|pulmonary hypoperfusion syndrome of newborn|neonatal respiratory distress syndrome|infant ARDS|respiratory distress syndrome|respiratory distress syndrome Of newborns|RDS, respiratory distress syndrome Of newborns|infant respiratory distress syndrome|respiratory distress syndrome Of newborns (RDS)											Orphanet:70587|UMLS:C0020192|GARD:0000112|DOID:12716|SCTID:46775006|EFO:1000644|OMIM:267450|ICD10:P22.0|NCIT:C27560|UMLS:C1968593|UMLS:C0035220|ICD9:769																		owl:Class
MONDO:0017016	biolink:NamedThing	primary interstitial lung disease specific to childhood due to alveolar structure disorder		mondoexuq1wtf	primary ILD specific to childhood due to alveolar structure disorder											Orphanet:264670|UMLS:CN202327																		owl:Class
MONDO:0013208	biolink:NamedThing	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome		mondoexuq1wtf	hypermanganesemia with dystonia 1|HMNDYT1|HMDPC|hypermanganesemia with dystonia, polycythemia, and cirrhosis|hypermanganesemia with dystonia polycythemia and cirrhosis											UMLS:CN035550|SCTID:702377007|MESH:C548016|Orphanet:309854|DOID:0080536|ICD9:277.89|GARD:0010706|OMIM:613280																		owl:Class
MONDO:0000704	biolink:NamedThing	lymphocytic colitis	Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	mondoexuq1wtf												MESH:D046730|DOID:0060184|SCTID:31437008|Orphanet:65279|NCIT:C27147|GARD:0006939|EFO:1001294|ICD10:K52.832|ICD9:558.9|UMLS:C0400822|MedDRA:10025268|ICD10:K52.89																		owl:Class
MONDO:0013187	biolink:NamedThing	factor XIII, A subunit, deficiency of		mondoexuq1wtf	hereditary factor XIII alpha subunit deficiency|hereditary factor XIII type II deficiency|hereditary factor XIII A subunit deficiency|factor XIII, A subunit, deficiency of											OMIM:613225|SCTID:439455002|MESH:C567691|UMLS:C2584877																		owl:Class
MONDO:0009173	biolink:NamedThing	congenital enteropathy due to enteropeptidase deficiency	Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.	mondoexuq1wtf	congenital enterokinase deficiency|enterokinase deficiency|enteropeptidase deficiency											ICD10:K90.8|MESH:C562649|Orphanet:168601|SCTID:190952002|DOID:0111667|OMIM:226200|ICD9:277.89|UMLS:C0268416																		owl:Class
MONDO:0014189	biolink:NamedThing	age related macular degeneration 13	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene.	mondoexuq1wtf	CFI age-related macular degeneration|macular degeneration, age-related, 13|macular Degeneration, age-related, type 13|age-related macular degeneration caused by mutation in CFI|age related macular degeneration type 13|ARMD13											OMIM:615439|DOID:0110025|UMLS:C3809523																		owl:Class
MONDO:0020530	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	interferon gamma, receptor 1, deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1|IFNGR1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IFNgammaR1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|MSMD due to complete interferon gamma receptor 1 deficiency											GARD:0003011|Orphanet:99898|ICD10:D84.8|UMLS:C2930924|MESH:C535530																		owl:Class
MONDO:0011327	biolink:NamedThing	neuronal intranuclear inclusion disease	Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.	mondoexuq1wtf	neuronal intranuclear inclusion disease|Niid|neuronal intranuclear hyaline inclusion disease											SCTID:715437003|ICD10:G31.0|UMLS:C1863843|NCIT:C122655|Orphanet:2289|GARD:0003971|OMIM:603472|MESH:C537395														https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease				owl:Class
MONDO:0018277	biolink:NamedThing	congenital muscular dystrophy with cerebellar involvement		mondoexuq1wtf	CMD-CRB|CMD with cerebellar involvement											Orphanet:370959|ICD10:G71.2																		owl:Class
MONDO:0011633	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2C	Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	mondoexuq1wtf	autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth neuropathy, type 2C|HMSN2C|hereditary motor and sensory neuropathy, type 2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|Charcot Marie Tooth disease type 2C|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|autosomal dominant Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy 2 C|hereditary motor and sensory neuropathy, type IIC|Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth disease, axonal, type 2C|hereditary motor and sensory neuropathy type IIc|Charcot-Marie-Tooth neuropathy type 2C|TRPV4 Charcot-Marie-Tooth disease type 2|HMSN 2 C|CMT 2C|HMSN 2C|CMT2C											GARD:0001250|OMIM:606071|SCTID:717010007|DOID:0110182|ICD10:G60.0|Orphanet:99937														https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c				owl:Class
MONDO:0013318	biolink:NamedThing	early repolarization associated with ventricular fibrillation		mondoexuq1wtf	early repolarization associated with ventricular fibrillation|early repolarization syndrome											OMIM:613601|UMLS:C3150852																		owl:Class
MONDO:0002759	biolink:NamedThing	bladder verrucous carcinoma	A verrucous carcinoma that involves the urinary bladder.	mondoexuq1wtf	urinary bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma|bladder verrucous carcinoma											NCIT:C39832|UMLS:C1511208|DOID:3741																		owl:Class
MONDO:0002760	biolink:NamedThing	bladder squamous cell carcinoma	A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.	mondoexuq1wtf	squamous cell carcinoma of the urinary bladder|squamous cell carcinoma of urinary bladder|BLSC|bladder squamous cell carcinoma|bladder squamous cell cancer|squamous cell carcinoma of the bladder|epidermoid carcinoma of the bladder|epidermoid carcinoma of the urinary bladder|urinary bladder epidermoid carcinoma|epidermoid carcinoma of bladder|bladder epidermoid carcinoma|urinary bladder squamous cell carcinoma|squamous cell carcinoma of bladder|epidermoid carcinoma of urinary bladder											UMLS:C0279681|EFO:1000130|SCTID:255111004|NCIT:C4031|ONCOTREE:BLSC|DOID:3742																		owl:Class
MONDO:0015278	biolink:NamedThing	familial pancreatic carcinoma	Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.	mondoexuq1wtf	hereditary pancreatic carcinoma|familial pancreatic cancer|hereditary pancreatic cancer|familial pancreatic carcinoma|hereditary exocrine pancreatic carcinoma|pancreatic acinar carcinoma											GARD:0004206|Orphanet:1333|ICD10:C25|SCTID:715414009|MESH:C535837|NCIT:C43298|UMLS:C2931038|OMIM:260350																		owl:Class
MONDO:0005192	biolink:NamedThing	exocrine pancreatic carcinoma	A carcinoma that arises from epithelial cells of the exocrine pancreas	mondoexuq1wtf	carcinoma of exocrine pancreas|carcinoma of pancreas|pancreatic cancer (not islets)|exocrine cancer|carcinoma of the pancreas|cancer of pancreas|exocrine pancreas carcinoma|pancreatic cancer|pancreatic carcinoma, familial|pancreas carcinoma|pancreas cancer|cancer of the pancreas|pancreatic carcinoma											DOID:4905|UMLS:C0235974|SCTID:372142002|NCIT:C3850|EFO:0002618																		owl:Class
MONDO:0000590	biolink:NamedThing	autoimmune disease of peripheral nervous system	A hypersensitivity reaction type II disease that involves the peripheral nervous system.	mondoexuq1wtf	peripheral nervous system autoimmune disease|peripheral nervous system hypersensitivity reaction type II disease											DOID:0060033																		owl:Class
MONDO:0002977	biolink:NamedThing	autoimmune disease of the nervous system	A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.	mondoexuq1wtf	autoimmune nervous system diseases|autoimmune nervous system disorder|autoimmune diseases, neurologic|nervous system immune disorders|autoimmune disorders, nervous system|nervous system immune diseases|immune diseases, nervous system|autoimmune disease of nervous system|nervous system autoimmune disease|nervous system autoimmune diseases|autoimmune disease, neurologic|diseases, neurologic autoimmune|autoimmune disorders of the nervous system|neurologic autoimmune diseases|disease, neurologic autoimmune|immune disorders, nervous system|nervous system hypersensitivity reaction type II disease|autoimmune diseases, nervous system|neurologic autoimmune disease											MESH:D020274|NCIT:C99383|UMLS:C0751872|DOID:438|UMLS:C0751871																		owl:Class
MONDO:0020048	biolink:NamedThing	internal carotid agenesis	Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.	mondoexuq1wtf	agenesis of the internal carotid artery|internal carotid artery agenesis											ICD10:Q28.1|GARD:0003012|Orphanet:981|SCTID:722004001														https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis				owl:Class
MONDO:0005923	biolink:NamedThing	Pneumocystis infectious disease	Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.	mondoexuq1wtf	infections, Pneumocystis|Pneumocystis infection											EFO:0007447|UMLS:C0851886|MESH:D016720																		owl:Class
MONDO:0004360	biolink:NamedThing	breast extraskeletal osteosarcoma	An osteosarcoma arising from the breast tissue.	mondoexuq1wtf	breast extraskeletal osteosarcoma|osteogenic sarcoma of the breast|osteogenic sarcoma of breast|breast osteosarcoma|breast osteosarcoma (disease)|osteosarcoma of breast|osteosarcoma of the breast|osteogenic breast sarcoma											DOID:7787|NCIT:C5189|UMLS:C1335149																		owl:Class
MONDO:0011335	biolink:NamedThing	spondyloepimetaphyseal dysplasia with multiple dislocations	A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|SEMD-MD|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|SEMDJL2|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2|spondyloepimetaphyseal dysplasia with joint laxity type 2											GARD:0009866|DOID:0112199|SCTID:766820007|NCIT:C125419|UMLS:C1863732|Orphanet:93360|ICD10:Q77.7|OMIM:603546|MESH:C535784														https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations				owl:Class
MONDO:0017772	biolink:NamedThing	oral erosive lichen		mondoexuq1wtf												ICD10:L43.8|Orphanet:31142|UMLS:CN203692																		owl:Class
MONDO:0001356	biolink:NamedThing	iron deficiency anemia	Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.	mondoexuq1wtf	iron-deficiency anemia											MESH:D018798|ICD9:280.9|UMLS:C0162316|DOID:11758|ICD9:280.8|SCTID:87522002|NCIT:C84484|COHD:436659																		owl:Class
MONDO:0003677	biolink:NamedThing	lateral myocardial infarction		mondoexuq1wtf												DOID:5853																		owl:Class
MONDO:0013243	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.	mondoexuq1wtf	neuronopathy, distal hereditary motor, type IIC|HSPB3 neuronopathy, distal hereditary motor|HMN2C|HMN 2C|neuropathy, distal hereditary motor, type 2C|neuronopathy, distal hereditary motor caused by mutation in HSPB3											OMIM:613376|DOID:0111209|UMLS:C3150619																		owl:Class
MONDO:0015352	biolink:NamedThing	distal hereditary motor neuropathy type 2		mondoexuq1wtf	dHMN2|dSMA2|distal spinal muscular atrophy type 2											ICD10:G12.2|Orphanet:139525|DOID:0111206|MESH:C580044																		owl:Class
MONDO:0011300	biolink:NamedThing	myopia 3, autosomal dominant		mondoexuq1wtf	MYP3|myopia 3, autosomal dominant											UMLS:C1864111|MESH:C566397|OMIM:603221																		owl:Class
MONDO:0018790	biolink:NamedThing	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy		mondoexuq1wtf	COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy											Orphanet:477765|UMLS:CN776855																		owl:Class
MONDO:0032902	biolink:NamedThing	Joubert syndrome 36		mondoexuq1wtf	JOUBERT SYNDROME 36|JBTS36											OMIM:618763																		owl:Class
MONDO:0005361	biolink:NamedThing	eosinophilic esophagitis	Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).	mondoexuq1wtf	EoE											ICD10:K20|EFO:0004232|DOID:13922|SCTID:235599003|ICD10:K20.0|MESH:D057765|MedDRA:10064212|COHD:27918|UMLS:C0341106|Orphanet:73247|ICD9:530.13|NCIT:C27105																		owl:Class
MONDO:0020371	biolink:NamedThing	essential iris atrophy	Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.	mondoexuq1wtf												ICD10:H21.2|UMLS:C0271111|UMLS:CN207238|ICD9:364.51|SCTID:25913001|Orphanet:98981																		owl:Class
MONDO:0009178	biolink:NamedThing	epidermolysis bullosa dystrophica Neurotrophica		mondoexuq1wtf	epidermolysis bullosa progressiva, recessive|epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness											MESH:C562637|SCTID:254176007|OMIM:226500|ICD9:757.39																		owl:Class
MONDO:0008212	biolink:NamedThing	Pechet factor deficiency		mondoexuq1wtf	Pechet factor deficiency|Dynia factor deficiency											UMLS:C1868545|MESH:C566814|OMIM:169200																		owl:Class
MONDO:0016651	biolink:NamedThing	maternal uniparental disomy of chromosome 1	Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	mondoexuq1wtf	UPD(1)mat|maternal uniparental disomy of chromosome type 1											ICD10:Q99.8|Orphanet:251009																		owl:Class
MONDO:0003401	biolink:NamedThing	central nervous system endodermal sinus tumor	A yolk sac tumor that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	central nervous system yolk sac tumor|pediatric central nervous system yolk Sac neoplasm|pediatric central nervous system endodermal sinus tumor|yolk Sac tumor of the CNS|childhood central nervous system endodermal sinus neoplasm|childhood central nervous system yolk Sac tumor|central nervous system yolk Sac tumor|pediatric central nervous system yolk Sac tumor|pediatric central nervous system endodermal sinus neoplasm|central nervous system endodermal sinus tumor|childhood central nervous system endodermal sinus tumor|childhood central nervous system yolk Sac neoplasm											NCIT:C6209|DOID:5343																		owl:Class
MONDO:0011075	biolink:NamedThing	retinitis pigmentosa 18	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.	mondoexuq1wtf	RP 18|RP18|PRPF3 retinitis pigmentosa|retinitis pigmentosa caused by mutation in PRPF3|retinitis pigmentosa type 18|retinitis pigmentosa 18											ICD10:H35.5|OMIM:601414|DOID:0110356|MESH:C563320|GARD:0010392|UMLS:C1832378														https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18				owl:Class
MONDO:0014006	biolink:NamedThing	Schuurs-Hoeijmakers syndrome	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.	mondoexuq1wtf	autosomal dominant mental retardation 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|intellectual disability, autosomal dominant type 17|autosomal dominant intellectual disability-17|MRD17|mental retardation, autosomal dominant type 17|intellectual disability, autosomal dominant 17|autosomal dominant intellectual disability 17|PACS1-related syndrome|mental retardation, autosomal dominant 17|SHMS|Schuurs-Hoeijmakers syndrome											OMIM:615009|GARD:0013043|Orphanet:329224|UMLS:C3554343|NCIT:C150555|DOID:0070047																		owl:Class
MONDO:0000951	biolink:NamedThing	thymus lymphoma	A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	mondoexuq1wtf	thymic lymphoma|primary thymic lymphoma|Thymus lymphoma|lymphoma of thymus|thymus lymphoma|lymphoma of Thymus|lymphoma of the Thymus											DOID:10146|EFO:1000054|UMLS:C1336745|NCIT:C6451																		owl:Class
MONDO:0004021	biolink:NamedThing	mediastinal malignant lymphoma	A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	mondoexuq1wtf	primary mediastinal lymphoma|lymphoma of mediastinum|lymphoma of the mediastinum|mediastinal lymphoma|mediastinal malignant lymphoma|mediastinum lymphoma											UMLS:C1334665|DOID:6868|NCIT:C6633																		owl:Class
MONDO:0008889	biolink:NamedThing	thromboangiitis obliterans	Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.	mondoexuq1wtf	inflammatory occlusive peripheral vascular disease|presenile gangrene|TAO|Buerger's disease|thromboangiitis obliterans [Buerger's disease]|occlusive peripheral vascular disease|thromboangiitis obliterans|BUERGER disease											UMLS:C0040021|Orphanet:36258|MedDRA:10043540|OMIM:211480|DOID:12918|GARD:0005969|ICD9:443.1|MESH:D013919|COHD:312939|SCTID:52403007|EFO:1001211|ICD10:I73.1|NCIT:C35070																		owl:Class
MONDO:0008732	biolink:NamedThing	adrenal hypoplasia, cytomegalic type		mondoexuq1wtf	adrenal hypoplasia, cytomegalic type											OMIM:202155|UMLS:C1859977																		owl:Class
MONDO:0010698	biolink:NamedThing	optic atrophy 2	Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	mondoexuq1wtf	optic atrophy, non-Leber type, with early onset|OPA2|optic atrophy 2|optic atrophy, X-linked|non-Leber type optic atrophy with early-onset|optic atrophy type 2											DOID:0111443|MESH:C537125|UMLS:C1839576|OMIM:311050|ICD10:H47.2|SCTID:721200000|Orphanet:98890|GARD:0010199																		owl:Class
MONDO:0014332	biolink:NamedThing	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency		mondoexuq1wtf	mitochondrial carbonic anhydrase va deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|CA-VA deficiency|carbonic anhydrase VA deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|CA5AD|hyperammonemia due to carbonic anhydrase VA deficiency											UMLS:C3810404|Orphanet:401948|GARD:0013201|OMIM:615751|SCTID:764456001|ICD10:E74.8																		owl:Class
MONDO:0009841	biolink:NamedThing	PEHO syndrome	PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.	mondoexuq1wtf	peho|peho syndrome|progressive encephalopathy-optic atrophy syndrome|peho-like syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|infantile Cerebellooptic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy											GARD:0004264|OMIM:260565|UMLS:C1850055|ICD10:G31.8|MESH:C536317|Orphanet:2836|DOID:0080539														https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome				owl:Class
MONDO:0015663	biolink:NamedThing	diencephalic syndrome	Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.	mondoexuq1wtf	Russell diencephalic cachexia|diencephalic cachexia|diencephalic syndrome of emaciation|Russell syndrome|diencephalic syndrome of infancy|diencephalic syndrome of childhood											ICD9:253.8|UMLS:C0271889|UMLS:C0342436|GARD:0006276|SCTID:237733001|NCIT:C116955|UMLS:CN200089|ICD10:C72.8|Orphanet:1672														https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome				owl:Class
MONDO:0002083	biolink:NamedThing	Richter syndrome	Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.	mondoexuq1wtf	Richter transformation|Richter's transformation|Richter syndrome|Richter's syndrome											ICD10:C91.1|GARD:0007578|SCTID:277550009|UMLS:C0349631|NCIT:C35424|DOID:1703																		owl:Class
MONDO:0004943	biolink:NamedThing	orbit sarcoma	A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.	mondoexuq1wtf	sarcoma of the orbit|sarcoma of orbit of skull|sarcoma of orbit|orbit of skull sarcoma|orbital sarcoma											DOID:9987|SCTID:699354006|UMLS:C1335131|NCIT:C6095																		owl:Class
MONDO:0002889	biolink:NamedThing	orbital cancer	A primary or metastatic malignant neoplasm involving the orbit.	mondoexuq1wtf	malignant neoplasm of orbit of skull|cancer of orbit of skull|malignant orbit neoplasm|malignant orbit tumor|orbital tumor|malignant orbital neoplasm|malignant tumor of orbit|malignant neoplasm of the orbit|malignant neoplasm of orbit|neoplasm of orbit proper|malignant orbital tumor|orbit cancer|malignant tumor of the orbit|malignant orbit of skull neoplasm|orbit of skull cancer											ICD9:239.89|ICD10:C69.6|SCTID:127003006|ICD9:190.1|EFO:0007408|NCIT:C3562|DOID:4143																		owl:Class
MONDO:0020083	biolink:NamedThing	immunodeficiency-associated lymphoproliferative disease		mondoexuq1wtf												ICD10:D47.9|Orphanet:98290|UMLS:CN206985																		owl:Class
MONDO:0010917	biolink:NamedThing	chondrocalcinosis 1		mondoexuq1wtf	chondrocalcinosis with early-onset osteoarthritis|chondrocalcinosis 1|CCAL1											MESH:C535938|GARD:0006048|OMIM:600668																		owl:Class
MONDO:0001314	biolink:NamedThing	chondrocalcinosis	An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.	mondoexuq1wtf	calcium pyrophosphate deposition disease|pseudogout											DOID:1156|SCTID:239832006|NCIT:C34955|COHD:437064|HP:0000934|ICD9:275.49|MESH:D002805|ICD9:712.1																		owl:Class
MONDO:0002978	biolink:NamedThing	orbit alveolar rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.	mondoexuq1wtf	alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit											DOID:4384|UMLS:C1335126|NCIT:C6247																		owl:Class
MONDO:0002580	biolink:NamedThing	orbit rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.	mondoexuq1wtf	rhabdomyosarcoma of the orbit|rhabdomyosarcoma of orbit|orbital region rhabdomyosarcoma|orbital region rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of orbital region											MESH:C537605|SCTID:254994000|DOID:3259|NCIT:C4543|UMLS:C0346347																		owl:Class
MONDO:0010760	biolink:NamedThing	XH antigen		mondoexuq1wtf	XH antigen											OMIM:314800																		owl:Class
MONDO:0004493	biolink:NamedThing	testicular yolk sac tumor, papillary pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.	mondoexuq1wtf	testicular yolk sac tumor, papillary pattern|papillary pattern testicular yolk sac tumor											DOID:8193|NCIT:C39928|UMLS:C1515310																		owl:Class
MONDO:0009877	biolink:NamedThing	Laron syndrome	Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.	mondoexuq1wtf	pituitary dwarfism II|Laron type pituitary dwarfism I|pituitary dwarfism 2|complete growth hormone insensitivity|primary growth hormone insensitivity|Laron-type isolated somatotropin defect|growth hormone insensitivity syndrome|primary GH resistance|Laron dwarfism|short stature due to growth hormone resistance|Laron-type dwarfism|primary GH insensitivity|GH receptor deficiency|Laron syndrome|Growth hormone receptor deficiency|primary growth hormone resistance											GARD:0006859|ICD10:E34.3|NCIT:C130994|SCTID:38196001|OMIM:262500|MESH:D046150|DOID:9521|Orphanet:633																		owl:Class
MONDO:0005661	biolink:NamedThing	babesiosis	Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.	mondoexuq1wtf	Babesia parasite infection|Babesia caused disease or disorder|Babesia infectious disease|Babesia disease or disorder|babesiasis|infection by Babesia|Human babesiosis|piroplasmosis											COHD:439730|ICD9:088.82|UMLS:C0004576|SCTID:21061004|Orphanet:108|NCIT:C84581|EFO:0007162|DOID:9643|GARD:0005878|MedDRA:10003965|ICD10:B60.0|MESH:D001404														https://rarediseases.info.nih.gov/diseases/5878/babesiosis				owl:Class
MONDO:0032845	biolink:NamedThing	spermatogenic failure 39		mondoexuq1wtf	SPERMATOGENIC FAILURE 39|SPGF39											OMIM:618643																		owl:Class
MONDO:0003399	biolink:NamedThing	pineal region yolk sac tumor	A yolk sac tumor that involves the pineal body.	mondoexuq1wtf	pineal region endodermal sinus neoplasm|pineal region yolk Sac neoplasm|pineal endodermal sinus neoplasm|endodermal sinus tumor of the pineal region|pineal region yolk sac tumor|endodermal sinus tumor of pineal region|yolk Sac tumor of the pineal region|pineal body yolk sac tumor|yolk Sac tumor of pineal region|pineal region endodermal sinus tumor|pineal endodermal sinus tumor											UMLS:C1335420|DOID:5341|NCIT:C6752																		owl:Class
MONDO:0011835	biolink:NamedThing	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.	mondoexuq1wtf	PME type 5|epilepsy, progressive myoclonic, 5, formerly|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|epilepsy, progressive myoclonic, type 5|sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|progressive myoclonic epilepsy caused by mutation in PRICKLE2|EPM5|PRICKLE2 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 5|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|SANDO|spinocerebellar ataxia with epilepsy|progressive myoclonus epilepsy type 5											ICD10:G40.3|GARD:0009998|OMIM:607459|Orphanet:70595|UMLS:CN226157|UMLS:C1843851|Orphanet:402082|ICD10:G71.3|DOID:0111276|OMIM:613832																		owl:Class
MONDO:0018477	biolink:NamedThing	bilirubin encephalopathy		mondoexuq1wtf	hyperbilirubinemic encephalopathy|kernicterus spectrum disorder|kernicterus											Orphanet:415286|ICD10:P57.9|SCTID:50143004|GARD:0006830																		owl:Class
MONDO:0003898	biolink:NamedThing	pediatric myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in children.	mondoexuq1wtf	myxoid chondrosarcoma of childhood|childhood myxoid chondrosarcoma|pediatric myxoid chondrosarcoma											NCIT:C27377|DOID:6494|UMLS:C1332984																		owl:Class
MONDO:0003681	biolink:NamedThing	myxoid chondrosarcoma	A chondrosarcoma characterized by the presence of myxoid changes.	mondoexuq1wtf	myxoid chondrosarcoma|MYCHS											ICDO:9231/3|DOID:5861|NCIT:C4303|ONCOTREE:MYCHS|UMLS:C0334551																		owl:Class
MONDO:0001271	biolink:NamedThing	lens subluxation	A partial dislocation of the lens of the eye.	mondoexuq1wtf	subluxation of lens|lens subluxation|lens subluxation (disease)		lens subluxation (disease)									SCTID:65814009|MESH:D007906|ICD9:379.32|COHD:376123|NCIT:C34772|HP:0001132|UMLS:C0023316|ICD10:H27.11|DOID:11364																		owl:Class
MONDO:0008666	biolink:NamedThing	volvulus of midgut	A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.	mondoexuq1wtf	intestinal malrotation, familial|congenital malrotation of intestine|volvulus of midgut|intestinal malrotation											OMIM:193250|MESH:C562456|SCTID:458422009|NCIT:C98961																		owl:Class
MONDO:0033821	biolink:NamedThing	fungal keratitis		mondoexuq1wtf												Orphanet:519930																		owl:Class
MONDO:0023865	biolink:NamedThing	corneal infection	A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.	mondoexuq1wtf	infective keratitis|infection of cornea|keratitis caused by infection|corneal infection											NCIT:C83813|Orphanet:519278|UMLS:C0729777|SCTID:312428002																		owl:Class
MONDO:0009622	biolink:NamedThing	Jawad syndrome	Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	mondoexuq1wtf	JAWAD syndrome|JWDS|Kelly syndrome|microcephaly with intellectual disability and digital anomalies|Jawad syndrome|microcephaly with mental retardation and digital anomalies											UMLS:C0796063|OMIM:251255|Orphanet:313795																		owl:Class
MONDO:0009928	biolink:NamedThing	pulmonary alveolar microlithiasis	Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.	mondoexuq1wtf	pulmonary alveolar microlithiasis											GARD:0011894|MESH:C562405|ICD10:J84.02|ICD10:J84.0|UMLS:C0155912|COHD:437906|ICD9:516.2|MedDRA:10037315|SCTID:87153008|Orphanet:60025|DOID:12117|OMIM:265100														https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis				owl:Class
MONDO:0015324	biolink:NamedThing	cataract-intellectual disability-anal atresia-urinary defects syndrome	Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	mondoexuq1wtf	cataract intellectual disability anal atresia urinary defects|cataract mental retardation anal atresia urinary defects|Karandikar Maria Kamble syndrome|Karandikar-Maria-Kamble syndrome|congenital cataract with multiple congenital anomalies in a sibship											ICD10:Q87.8|UMLS:C2931391|GARD:0000192|MESH:C537009|Orphanet:1381|SCTID:715989002																		owl:Class
MONDO:0000234	biolink:NamedThing	Rickettsia parkeri spotted fever	A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.	mondoexuq1wtf	maculatum infection											DOID:0050051																		owl:Class
MONDO:0006390	biolink:NamedThing	prostate small cell carcinoma	A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.	mondoexuq1wtf	Oat cell carcinoma of the prostate|prostate oat cell carcinoma|prostate small cell NEC|PRSCC|Oat cell carcinoma of prostate|prostate Oat cell carcinoma|prostate gland small cell carcinoma|prostate small cell neuroendocrine carcinoma|small cell carcinoma of prostate|small cell carcinoma of the prostate|prostate small cell carcinoma|small cell carcinoma of prostate gland					Editor note: DO classifies as lung oat cell carcinoma						NCIT:C6766|EFO:1000499|SCTID:396198006|DOID:7141|ONCOTREE:PRSCC|UMLS:C1300585																		owl:Class
MONDO:0002477	biolink:NamedThing	prostate neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.	mondoexuq1wtf	prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine neoplasm|neuroendocrine neoplasm of prostate gland|neuroendocrine neoplasm of the prostate|prostate gland neuroendocrine tumor|prostate gland NET|prostate neuroendocrine neoplasm|neuroendocrine tumor of the prostate|prostate neuroendocrine carcinoma|neuroendocrine neoplasm of prostate											NCIT:C5545|ONCOTREE:PRNE|UMLS:C1335515|DOID:2992																		owl:Class
MONDO:0007369	biolink:NamedThing	hereditary coproporphyria	Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.	mondoexuq1wtf	Cpx deficiency|HCP|Cpox deficiency|coproporphyria|coproporphyria hereditary|Harderoporphyria|CPRO deficiency|coproporphyria, hereditary|porphyria hepatica coproporphyria|hereditary coproporphyria|Cpo deficiency|hereditary coproporphyria porphyria|porphyria hepatica II|coproporphyrinogen oxidase deficiency											NCIT:C84759|ICD10:E80.2|MedDRA:10019866|Orphanet:79273|DOID:13269|MESH:D046349|SCTID:7425008|GARD:0006619|UMLS:C0162531|ICD10:E80.29|OMIM:121300														https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria				owl:Class
MONDO:0019224	biolink:NamedThing	inborn disorder of gamma-aminobutyric acid metabolism	An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.	mondoexuq1wtf	inborn gamma-aminobutyric acid metabolic process disorder|inborn error of gamma-aminobutyric acid metabolic process|disorder of GABA metabolism|rare inborn error of gamma-aminobutyric acid metabolic process|disorder of gamma-aminobutyric acid metabolism											Orphanet:79175|UMLS:CN227591|ICD10:E72.8																		owl:Class
MONDO:0019250	biolink:NamedThing	inborn disorder of biogenic amine metabolism and transport		mondoexuq1wtf	disorder of biogenic amine metabolism and transport											Orphanet:79214|UMLS:CN227606																		owl:Class
MONDO:0008262	biolink:NamedThing	Poland syndrome	Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.	mondoexuq1wtf	Poland sequence|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland syndrome|Poland's syndrome|Poland syndactyly|pectoralis muscle, absence of|Poland anomaly|Poland's syndactyly											UMLS:C0032357|DOID:12961|GARD:0007412|SCTID:38371006|OMIM:173800|MedDRA:10036007|Orphanet:2911|NCIT:C85017|ICD9:756.89|MESH:D011045|ICD10:Q79.8														https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome				owl:Class
MONDO:0002203	biolink:NamedThing	constipation disorder	Irregular and infrequent or difficult evacuation of the bowels.	mondoexuq1wtf	Dyschezia|constipation|colonic inertia											ICD10:K59.00|DOID:2089|HP:0002019|ICD9:564.0|COHD:75860|ICD10:K59.0|ICD9:564.00|MESH:D003248|NCIT:C37930|SCTID:14760008																		owl:Class
MONDO:0004880	biolink:NamedThing	bowel dysfunction	Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.	mondoexuq1wtf	disease of lower digestive tract|lower digestive tract disease											UMLS:C2004461|ICD9:564.9|SCTID:235594008|DOID:9779|ICD10:K59.9																		owl:Class
MONDO:0008110	biolink:NamedThing	ocular dominance		mondoexuq1wtf	ocular dominance											OMIM:164190																		owl:Class
MONDO:0001575	biolink:NamedThing	chronic gonococcal salpingitis	Chronic form of gonococcal salpingitis.	mondoexuq1wtf	gonococcal salpingitis|gonococcal salpingitis, chronic											ICD9:098.37|UMLS:C0153208|SCTID:53529004|DOID:12718|COHD:193700																		owl:Class
MONDO:0015065	biolink:NamedThing	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.	mondoexuq1wtf	ileal neuroendocrine neoplasm|ileal neuroendocrine tumor					Editor note: TODO apply G1/G2 pattern						UMLS:CN197358|Orphanet:100078|NCIT:C135092																		owl:Class
MONDO:0006801	biolink:NamedThing	ileal neoplasm	A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.	mondoexuq1wtf	ileum neoplasm|ileal tumor|ileum tumor|tumor of ileum|neoplasm of ileum|ileum neoplasm (disease)|neoplasm of the ileum|tumor of the ileum										MONDO:0021376	MESH:D007078|DOID:10156|NCIT:C3130|UMLS:C0020876|EFO:1000981|SCTID:126835002																		owl:Class
MONDO:0007493	biolink:NamedThing	torsion dystonia 4	DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	mondoexuq1wtf	DYT4|dystonia musculorum deformans 4|whispering dysphonia, hereditary|primary dystonia, DYT4 type|whispering dysphonia|autosomal dominant torsion dystonia-4|hereditary whispering dysphonia|torsion dystonia type 4|dystonia 4, torsion, autosomal dominant											GARD:0010138|SCTID:719276005|OMIM:128101|Orphanet:98805|UMLS:C1860315|ICD10:G24.1|UMLS:C1851943|DOID:0090041																		owl:Class
MONDO:0003713	biolink:NamedThing	angiokeratoma circumscriptum		mondoexuq1wtf												DOID:5949|SCTID:21848000|UMLS:C0263638|NCIT:C7751																		owl:Class
MONDO:0003143	biolink:NamedThing	angiokeratoma	A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).	mondoexuq1wtf	angiokeratoma (morphologic abnormality)|angiokeratoma of the skin|skin angiokeratoma|angiokeratoma of skin|cutaneous angiokeratoma											NCIT:C4488|DOID:479|SCTID:254788004|MESH:D000794|UMLS:C0346075|UMLS:C0002985|CSP:2007-0683																		owl:Class
MONDO:0010657	biolink:NamedThing	methylmalonic acidemia with homocystinuria, type cblX		mondoexuq1wtf	methylmalonic acidemia and homocysteinemia type cblX|methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|intellectual disability, X-linked 3											ICD10:E71.1|OMIM:309541|UMLS:C0796208|MESH:C563136|GARD:0013137|Orphanet:369962																		owl:Class
MONDO:0000941	biolink:NamedThing	eyelid degenerative disease	A neurodegenerative disease that involves the eyelid.	mondoexuq1wtf	neurodegenerative disease of eyelid|eyelid neurodegenerative disease											DOID:10120|UMLS:C0155209|ICD9:374.50|SCTID:1112003																		owl:Class
MONDO:0016372	biolink:NamedThing	glossopharyngeal neuralgia	Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.	mondoexuq1wtf	Glossovasopharyngeal neuralgia|glossopharyngeal nerve neuralgia|glossopharyngeal neuralgia|neuralgia of glossopharyngeal nerve											MedDRA:10018391|ICD9:352.1|Orphanet:221098|ICD10:G52.1|UMLS:C0154731|SCTID:43763009|GARD:0006519|DOID:14423|COHD:380100														https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia				owl:Class
MONDO:0016374	biolink:NamedThing	cranial neuralgia	A neuralgia that involves the cranial neuron projection bundle.	mondoexuq1wtf	neuralgia of cranial neuron projection bundle|facial neuralgia|cranial neuron projection bundle neuralgia											UMLS:C0010269|Orphanet:221109|SCTID:23096007																		owl:Class
MONDO:0000693	biolink:NamedThing	bipolar II disorder	A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.	mondoexuq1wtf	bipolar 2 disorder|bipolar ll disorder|bipolar II disorder											ICD9:296.89|DOID:0060166|SCTID:83225003																		owl:Class
MONDO:0004985	biolink:NamedThing	bipolar disorder	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.	mondoexuq1wtf	manic depressive disorder|mixed bipolar disorder|manic-depressive illness|bipolar affective disorder|bipolar disorder|manic-depression|bipolar depression|MAFD|manic depression|manic-depressive psychosis|manic disorder|major bipolar affective disorder|depressive-manic psych.|bipolar disorder manic phase|manic bipolar affective disorder|major affective disorder|manic bipolar I disorder											UMLS:C0005586|ICD9:296.80|ICD10:F31.9|ICD9:296.89|ICD9:296.60|ICD9:296.40|COHD:436665|MESH:D001714|EFO:0000289|ICD10:F31|DOID:3312|DC:0000264|NIFSTD:birnlex_12754|SCTID:13746004|NCIT:C34423																		owl:Class
MONDO:0012851	biolink:NamedThing	hypophosphatemic nephrolithiasis/osteoporosis 2		mondoexuq1wtf	NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, 2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2											MESH:C567362|UMLS:C2676782|DOID:0080078|OMIM:612287																		owl:Class
MONDO:0000079	biolink:NamedThing	nephrolithiasis/osteoporosis, hypophosphatemic		mondoexuq1wtf												DC:0000341|OMIMPS:612286|DOID:0080655																		owl:Class
MONDO:0022742	biolink:NamedThing	occupational asthma	Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.	mondoexuq1wtf	Occupational asthma|Occupational Asthma|industrial asthma|Industrial asthma|Asthmas, Occupational|occupational asthma|Asthma, Occupational|Occupational Asthmas											MESH:D059366|SCTID:57607007|UMLS:C0264423																		owl:Class
MONDO:0011823	biolink:NamedThing	developmental malformations-deafness-dystonia syndrome	Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.	mondoexuq1wtf	juvenile-onset dystonia|dystonia, juvenile-onset|DJO											OMIM:607371|MESH:C537704|Orphanet:79107|UMLS:C1846331|GARD:0009818|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia				owl:Class
MONDO:0007826	biolink:NamedThing	incisors, shovel-shaped		mondoexuq1wtf	incisors, shovel-shaped|Sinodonty											OMIM:147400																		owl:Class
MONDO:0019334	biolink:NamedThing	autosomal recessive hyperinsulinism due to Kir6.2 deficiency		mondoexuq1wtf	autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency											ICD10:E16.1|Orphanet:79644|UMLS:CN206003																		owl:Class
MONDO:0019855	biolink:NamedThing	athyreosis	Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	mondoexuq1wtf												ICD10:E03.1|Orphanet:95713																		owl:Class
MONDO:0019853	biolink:NamedThing	congenital hypothyroidism due to developmental anomaly	Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	mondoexuq1wtf	primary congenital hypothyroidism due to developmental anomaly					Editor note: fix definition						Orphanet:95711|ICD10:E03.1																		owl:Class
MONDO:0000724	biolink:NamedThing	specific language impairment	A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.	mondoexuq1wtf	language impairment (disease)											DOID:0060244|UMLS:C0454651|OMIMPS:606711																		owl:Class
MONDO:0016879	biolink:NamedThing	partial deletion of chromosome 17		mondoexuq1wtf	partial deletion of chromosome type 17|partial monosomy of chromosome 17											Orphanet:261831|ICD10:Q93.5																		owl:Class
MONDO:0001952	biolink:NamedThing	parietal lobe cancer	A malignant neoplasm involving the parietal lobe	mondoexuq1wtf	malignant neoplasm of parietal lobe|cancer of parietal lobe|parietal lobe neoplasm|malignant parietal lobe neoplasm|parietal lobe cancer											ICD10:C71.3|DOID:14384|ICD9:191.3|UMLS:C0153637|SCTID:363469001|COHD:4181481																		owl:Class
MONDO:0032748	biolink:NamedThing	spermatogenic failure 38		mondoexuq1wtf	SPGF38|SPERMATOGENIC FAILURE 38											OMIM:618433																		owl:Class
MONDO:0009867	biolink:NamedThing	lethal congenital glycogen storage disease of heart	Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.	mondoexuq1wtf	glycogen storage disease of heart, lethal congenital|glycogen storage disease of heart|PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to GSD|fatal congenital nonlysosomal cardiac glycogenosis|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease|phosphorylase kinase deficiency of heart|fatal congenital hypertrophic cardiomyopathy due to glycogenosis|glycogen storage disease caused by mutation in PRKAG2											DOID:0090101|ICD10:E74.0+|OMIM:261740|Orphanet:439854|MESH:C564888|ICD10:G73.6*|UMLS:C1849813|GARD:0010728																		owl:Class
MONDO:0010946	biolink:NamedThing	hypertrophic cardiomyopathy 6	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 6|hypertrophic cardiomyopathy caused by mutation in PRKAG2|hypertrophic cardiomyopathy type 6|CMH6|cardiomyopathy, familial hypertrophic 6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 6											MESH:C563436|UMLS:C1833236|OMIM:600858|DOID:0110312																		owl:Class
MONDO:0019517	biolink:NamedThing	Waardenburg syndrome type 2	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.	mondoexuq1wtf	WS2|WS type 2|WS 2|Waardenburg syndrome type II											UMLS:C2700265|NCIT:C75009|GARD:0005520|Orphanet:895|ICD10:E70.3|MESH:C536463														https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2				owl:Class
MONDO:0018094	biolink:NamedThing	Waardenburg syndrome	Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.	mondoexuq1wtf	Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Waardenburg Shah syndrome|Waardenburg's syndrome|van der Hoeve Halbertsona Waardenburg syndrome|Mende syndrome|Waardenburg syndrome|Waardenburg, types I and/or II											DOID:9258|NCIT:C85222|SCTID:715952000|GARD:0005525|ICD10:E70.3|OMIMPS:193500|Orphanet:3440|MedDRA:10069203																		owl:Class
MONDO:0014633	biolink:NamedThing	myoclonic-atonic epilepsy		mondoexuq1wtf	mae|myoclonic-atonic epilepsy											OMIM:616421|UMLS:C4085238																		owl:Class
MONDO:0016025	biolink:NamedThing	myoclonic-astastic epilepsy	Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.	mondoexuq1wtf	mae|myoclonic astatic epilepsy|Doose syndrome|epilepsy with myoclonic-atonic seizures|myoclonic-astatic epilepsy in early childhood|myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|epilepsy with myoclonic-astatic seizures|EMAS											SCTID:230421008|ICD9:345.10|Orphanet:1942|GARD:0002169|ICD10:G40.4														https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy				owl:Class
MONDO:0015709	biolink:NamedThing	immunodeficiency syndrome with autoimmunity		mondoexuq1wtf												UMLS:CN200213|Orphanet:169355																		owl:Class
MONDO:0012360	biolink:NamedThing	congenital nongoitrous hypothryoidism 3	A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.	mondoexuq1wtf	congenital nongoitrous hypothyroidism 3|thyrotropin resistance|CHNG3|resistance to thyrotropin|hypothyroidism, congenital, nongoitrous, 3											UMLS:C2940785|OMIM:609893|ICD10:E03.1|MESH:C567935|DOID:0070127																		owl:Class
MONDO:0019995	biolink:NamedThing	peripheral resistance to thyroid hormones	Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	mondoexuq1wtf												UMLS:C4273673|GARD:0012734|UMLS:CN206931|SCTID:718193005|ICD10:E03.1|Orphanet:97927														https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones				owl:Class
MONDO:0020422	biolink:NamedThing	aortopulmonary coronary arterial course	Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.	mondoexuq1wtf												Orphanet:99086|ICD10:Q24.5																		owl:Class
MONDO:0015830	biolink:NamedThing	partial bilateral aplasia of the mullerian ducts		mondoexuq1wtf	partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts											ICD10:Q51.8|Orphanet:180068																		owl:Class
MONDO:0011006	biolink:NamedThing	hereditary spastic paraplegia 9A		mondoexuq1wtf	cataracts with motor neuronopathy, short stature, and skeletal abnormalities|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|cataracts with motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|hereditary spastic paraplegia type 9A|SPG9A|autosomal dominant spastic paraplegia 9A|spastic paraplegia 9A, autosomal dominant|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux|AD-SPG9A|autosomal dominant complex spastic paraplegia type 9A|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux											Orphanet:447753|OMIM:601162|UMLS:CN237701|DOID:0110824|MESH:C536868|ICD10:G11.4																		owl:Class
MONDO:0043106	biolink:NamedThing	ichthyosis linearis circumflexa		mondoexuq1wtf	ichthyosis linearis circumflexa											GARD:0002967|SCTID:54336006																		owl:Class
MONDO:0006561	biolink:NamedThing	eyelid hypopigmentation	Under-production of pigment in the eyelid.	mondoexuq1wtf	hypopigmentation of eyelid											DOID:11668|EFO:1000713|SCTID:68210006|ICD9:374.53|UMLS:C0155212|ICD10:H02.73																		owl:Class
MONDO:0005691	biolink:NamedThing	cardiovirus infectious disease	Infections caused by viruses of the genus cardiovirus, family picornaviridae.	mondoexuq1wtf	infections, Cardiovirus|Cardiovirus infection|infection, Cardiovirus											EFO:0007194|UMLS:C0206617|MESH:D018188																		owl:Class
MONDO:0005914	biolink:NamedThing	Picornaviridae infectious disease	Virus diseases caused by the picornaviridae.	mondoexuq1wtf	infections, Picornaviridae|Picornaviridae infection											EFO:0007438|MESH:D010850|UMLS:C0031887																		owl:Class
MONDO:0013566	biolink:NamedThing	Fanconi anemia complementation group L	Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.	mondoexuq1wtf	Fanconi Anemia, complementation Group 50|Fanconi anemia complementation group type L|Fanconi Anemia, complementation group type 50|Fanconi anemia caused by mutation in FANCL|FANCL Fanconi anemia|Fanconi anemia, complementation group L|FANCL											DOID:0111082|OMIM:614083																		owl:Class
MONDO:0005843	biolink:NamedThing	mediastinal cancer	A malignant neoplasm involving the mediastinum	mondoexuq1wtf	mediastinum cancer|malignant neoplasm of the mediastinum|mediastinal tumor|mediastinal cancer|cancer of mediastinum|cancer of the mediastinum|malignant tumor of the mediastinum|malignant mediastinum neoplasm|malignant neoplasm of mediastinum|malignant mediastinal neoplasm|tumour of mediastinum|malignant mediastinal tumor|malignant tumor of mediastinum											NCIT:C3549|DOID:5559|MESH:D008479|ICD10:C38.3|SCTID:363494000|ICD9:164.9|EFO:0007362																		owl:Class
MONDO:0026763	biolink:NamedThing	holoprosencephaly 13, X-linked		mondoexuq1wtf	HPE13|HOLOPROSENCEPHALY 13, X-LINKED											OMIM:301043																		owl:Class
MONDO:0019458	biolink:NamedThing	acute basophilic leukemia	A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.	mondoexuq1wtf	leukemia basophilic|basophilic leukemia											UMLS:C0023437|ICDO:9870/3|Orphanet:86849|UMLS:C0221292|ICD10:C94.7|ONCOTREE:ABL|SCTID:307592006|EFO:0003029|NCIT:C3164|MESH:D015471																		owl:Class
MONDO:0015667	biolink:NamedThing	acute myeloid leukemia by FAB classification	Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.	mondoexuq1wtf	unclassified acute myeloid leukemia|acute myeloid leukemia not otherwise specified|acute myeloid leukemia, NOS|acute myeloid leukemia not otherwise categorized|unclassified AML|acute myeloid leukemia NOS|acute myeloid leukemia|AML, NOS											Orphanet:167714|NCIT:C27753|GARD:0012760														https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia				owl:Class
MONDO:0012332	biolink:NamedThing	short stature-delayed bone age due to thyroid hormone metabolism deficiency	Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.	mondoexuq1wtf	thyroid hormone metabolism, abnormal											ICD10:E03.1|UMLS:C1864761|Orphanet:171706|MESH:C566454|OMIM:609698																		owl:Class
MONDO:0002170	biolink:NamedThing	chronic eustachian salpingitis	Chronic form of otosalpingitis.	mondoexuq1wtf	chronic otosalpingitis|otosalpingitis, chronic|chronic eustachian tube salpingitis											SCTID:194269002|UMLS:C0155430|ICD10:H68.029|ICD9:381.52|ICD10:H68.02|DOID:1999																		owl:Class
MONDO:0021204	biolink:NamedThing	chronic otitis media	Chronic form of otitis media (disease).	mondoexuq1wtf	chronic otitis media (disease)|otitis media (disease), chronic											SCTID:21186006|UMLS:C0271441|ICD9:381.3																		owl:Class
MONDO:0016056	biolink:NamedThing	isolated congenital microcephaly		mondoexuq1wtf	microcephaly, primary|primary microcephaly|true microcephaly					Editor note: check alignment with DO class						DOID:0070297|GARD:0007038|MedDRA:10027534|Orphanet:199642|ICD10:Q02																		owl:Class
MONDO:0016054	biolink:NamedThing	cerebral malformation		mondoexuq1wtf	brain malformation											Orphanet:199633																		owl:Class
MONDO:0021285	biolink:NamedThing	carcinoma in situ of urethra	A in situ carcinoma that involves the urethra.	mondoexuq1wtf	stage 0is urethral cancer aJCC v7|urethra carcinoma in situ|carcinoma in situ of the urethra|stage 0is urethra carcinoma|urethral carcinoma in situ|carcinoma in situ of urethra|stage 0 urethra carcinoma|stage 0is carcinoma of the urethra|stage 0is urethral cancer|urethra in situ carcinoma|stage 0is carcinoma of urethra|stage 0is urethral carcinoma											NCIT:C4531|SCTID:92784007|UMLS:C0346280|ICD9:233.9																		owl:Class
MONDO:0014540	biolink:NamedThing	amelogenesis imperfecta type 1H	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.	mondoexuq1wtf	amelogenesis imperfecta, type 1H|AI1H|amelogenesis imperfecta type IH|amelogenesis imperfecta, type IH|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ITGB6					Not in the OMIM series.						UMLS:C4015557|ICD10:K00.5|DOID:0110064|OMIM:616221																		owl:Class
MONDO:0007398	biolink:NamedThing	craniorhiny		mondoexuq1wtf	craniorhiny											OMIM:123050|Orphanet:157832|UMLS:C1852501|ICD10:Q30.8|MESH:C565144																		owl:Class
MONDO:0004579	biolink:NamedThing	retinoschisis	An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.	mondoexuq1wtf												UMLS:C0152439|DOID:8465|ICD10:H33.10|ICD9:361.10|NCIT:C85046|MESH:D041441|SCTID:44268007|COHD:381282																		owl:Class
MONDO:0032639	biolink:NamedThing	deafness, autosomal recessive 112		mondoexuq1wtf	DFNB112|DEAFNESS, AUTOSOMAL RECESSIVE 112											DOID:0111637|OMIM:618257																		owl:Class
MONDO:0013690	biolink:NamedThing	Pitt-Hopkins-like syndrome 2	Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.	mondoexuq1wtf	NRXN1 Pitt-Hopkins-like syndrome|PTHSL2|Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome type 2|Pitt-Hopkins-like syndrome 2											UMLS:C3280479|OMIM:614325|DOID:0111332																		owl:Class
MONDO:0001508	biolink:NamedThing	patulous eustachian tube	A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.	mondoexuq1wtf												UMLS:C0155434|ICD9:381.7|SCTID:30280005|ICD10:H69.0|ICD10:H69.00|GARD:0010812|DOID:12358																		owl:Class
MONDO:0012790	biolink:NamedThing	amyotrophic lateral sclerosis type 10	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 10|amyotrophic lateral sclerosis caused by mutation in TARDBP|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|Ftld-TDP, Tardbp-related|ALS10|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|TARDBP amyotrophic lateral sclerosis											UMLS:C3502417|OMIM:612069|DOID:0060201|GARD:0010497|MESH:C567429														https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10				owl:Class
MONDO:0000486	biolink:NamedThing	craniofacial dystonia	A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.	mondoexuq1wtf	cranio-facial dystonia										MONDO:0022885	UMLS:C4023011|GARD:0010667|DOID:0050845														https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia				owl:Class
MONDO:0009512	biolink:NamedThing	lethal Larsen-like syndrome	Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.	mondoexuq1wtf	Larsen-like multiple joint dislocation syndrome|Larsen-like syndrome, lethal type											UMLS:C1855535|OMIM:245650|UMLS:C4304741|MESH:C537872|Orphanet:2371|SCTID:719409004|ICD10:Q74.8|GARD:0003181																		owl:Class
MONDO:0005580	biolink:NamedThing	esophageal squamous cell carcinoma	Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.	mondoexuq1wtf	scc of esophagus|esophagus squamous cell carcinoma|squamous cell carcinoma of the esophagus|squamous cell car. - esophagus|squamous cell carcinoma of esophagus|esophageal scc|esophageal squamous cell cancer|esophageal epidermoid carcinoma|esophagus scc|scc of the esophagus|esophageal squamous cell carcinoma|ESCC											SCTID:276804009|NCIT:C4024|DOID:3748|ICD10:C15.3|Orphanet:99977|MESH:C562729|ICD10:C15.4|ONCOTREE:ESCC|ICD10:C15.0|EFO:0005922|UMLS:C0279626|ICD10:C15.1																		owl:Class
MONDO:0003753	biolink:NamedThing	nasal vestibule squamous papilloma	A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.	mondoexuq1wtf	squamous papilloma of the nasal vestibule|nasal vestibule squamous papilloma|papilloma of the nasal vestibule|papilloma of nasal vestibule|nasal vestibule papilloma|squamous papilloma of nasal vestibule											DOID:6059|NCIT:C4369|SCTID:232364006|ICD9:478.19|UMLS:C0339826																		owl:Class
MONDO:0024622	biolink:NamedThing	thyroid gland adenocarcinoma	An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).	mondoexuq1wtf	thyroid gland adenocarcinoma|thyroid adenocarcinoma											NCIT:C27380|DOID:0080524																		owl:Class
MONDO:0009465	biolink:NamedThing	multiple intestinal atresia	Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.	mondoexuq1wtf	combined immunodeficiency-enteropathy spectrum|multiple gastrointestinal atresias|intestinal atresia multiple|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|GIDID|familial intestinal polyatresia syndrome|Cid-MIA/early-onset IBD|gastrointestinal defects and immunodeficiency syndrome|intestinal atresia, multiple											Orphanet:2300|Orphanet:436252|DOID:14671|MESH:C562441|SCTID:95472001|ICD10:Q43.8|MedDRA:10028210|OMIM:243150|ICD10:Q82.8|ICD9:751.8|GARD:0003013														https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple				owl:Class
MONDO:0015211	biolink:NamedThing	non-syndromic intestinal malformation	A intestinal malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated intestinal malformation|nonsyndromic intestinal malformation											Orphanet:108967																		owl:Class
MONDO:0014775	biolink:NamedThing	combined oxidative phosphorylation deficiency 28	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.	mondoexuq1wtf	neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|combined oxidative phosphorylation defect type 28|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26|COXPD28|combined oxidative phosphorylation deficiency 28|combined oxidative phosphorylation deficiency type 28											OMIM:616794|Orphanet:466784|DOID:0111470|UMLS:C4225206																		owl:Class
MONDO:0011574	biolink:NamedThing	tetralogy of fallot syndrome, autosomal recessive		mondoexuq1wtf	tetralogy of fallot syndrome, autosomal recessive											UMLS:C1854119|OMIM:605618|MESH:C565314																		owl:Class
MONDO:0005595	biolink:NamedThing	laryngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.	mondoexuq1wtf	larynx epidermoid carcinoma|laryngeal squamous cell carcinoma|epidermoid carcinoma of the larynx|epidermoid carcinoma of larynx|laryngeal throat squamous cell cancer|larynx squamous cell carcinoma|LXSC|squamous cell carcinoma of larynx|squamous cell carcinoma of the larynx|laryngeal epidermoid carcinoma											EFO:0006352|NCIT:C4044|ONCOTREE:LXSC|SCTID:405822008|Orphanet:494550|UMLS:C0280324|DOID:2876																		owl:Class
MONDO:0023152	biolink:NamedThing	fibrocartilaginous embolism	Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.	mondoexuq1wtf	embolism, fibrocartilaginous											MESH:C537927|GARD:0009718|UMLS:C2931666														https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism				owl:Class
MONDO:0001373	biolink:NamedThing	urinary bladder posterior wall cancer		mondoexuq1wtf	malignant neoplasm of posterior wall of urinary bladder											DOID:11811|SCTID:188243001|ICD9:188.4|ICD10:C67.4|UMLS:C0153612																		owl:Class
MONDO:0014873	biolink:NamedThing	nevus comedonicus syndrome	A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.	mondoexuq1wtf	NEVUS comedonicus|pilosebaceous nevoid disorder|acne Nevus|Nevus comedonicus|NC|acneiform Nevus|comedo Nevus											NCIT:C3946|Orphanet:64754|GARD:0013073|SCTID:35962006|OMIM:617025|UMLS:C0265987|ICD10:Q82.5																		owl:Class
MONDO:0006551	biolink:NamedThing	alopecia mucinosa	A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.	mondoexuq1wtf	alopecia mucinosa|alopecia Mucinosa|follicular mucinosis|hair follicle cutaneous focal mucinosis|cutaneous focal mucinosis of hair follicle|alopecia mucinosis											UMLS:C0002173|ICD10:L65.2|EFO:1000701|NCIT:C82859|MESH:D000507|PMID:24350019|ICD9:704.09|SCTID:27382006|DOID:9905																		owl:Class
MONDO:0021653	biolink:NamedThing	cutaneous focal mucinosis		mondoexuq1wtf	focal mucinosis|focal mucinoses											ICD9:701.8|SCTID:110981005|UMLS:C0406659																		owl:Class
MONDO:0020501	biolink:NamedThing	Crimean-Congo hemorrhagic fever	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.	mondoexuq1wtf	Congo-Crimean hemorrhagic fever|CCHF|Congo fever|Crimean-Congo haemorrhagic fever|CHF Congo virus|Crimean hemorrhagic fever [CHF Congo virus]|Crimean hemorrhagic fever|Congo hemorrhagic fever											UMLS:C0019099|SCTID:402919000|ICD10:A98.0|NCIT:C34682|ICD9:065.0|Orphanet:99827|MESH:D006479|UMLS:C1304456|DOID:12287																		owl:Class
MONDO:0032572	biolink:NamedThing	cardiac, facial, and digital anomalies with developmental delay		mondoexuq1wtf	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY|CAFDADD											OMIM:618164																		owl:Class
MONDO:0013432	biolink:NamedThing	Meier-Gorlin syndrome 5	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.	mondoexuq1wtf	Meier-Gorlin syndrome 5|Meier-Gorlin syndrome type 5|Meier-GORLIN syndrome 5|CDC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in CDC6|MGORS5											OMIM:613805|DOID:0080516|UMLS:C3151126																		owl:Class
MONDO:0014925	biolink:NamedThing	epilepsy, familial focal, with variable foci 3	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.	mondoexuq1wtf	NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci caused by mutation in NPRL3|FFEVF3|epilepsy, familial focal, with variable foci type 3|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci 3; FFEVF3											OMIM:617118|UMLS:C4310708																		owl:Class
MONDO:0017616	biolink:NamedThing	X-linked intellectual disability, Schutz type		mondoexuq1wtf												ICD10:Q87.8|Orphanet:3062																		owl:Class
MONDO:0021259	biolink:NamedThing	prostate neoplasm	A neoplasm (disease) that involves the prostate gland.	mondoexuq1wtf	neoplasm of prostate gland|prostate gland neoplasm (disease)|tumor of the prostate|tumor of prostate|prostate tumor|neoplasm of prostate|neoplasm of the prostate|prostate gland tumor|prostate nodule|tumor of prostate gland|prostate gland neoplasm|nodular prostate										MONDO:0001659	NCIT:C3343|DOID:13206|ICD9:600.1|ONCOTREE:PROSTATE|ICD10:N40																		owl:Class
MONDO:0009572	biolink:NamedThing	autosomal recessive familial Mediterranean fever	Autosomal recessive form of familial Mediterranean fever.	mondoexuq1wtf	polyserositis, recurrent|familial MEDITERRANEAN FEVER|familial Mediterranean fever|polyserositis, familial paroxysmal|FMF|familial Mediterranean fever, autosomal recessive											OMIM:249100																		owl:Class
MONDO:0018088	biolink:NamedThing	familial Mediterranean fever	Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.	mondoexuq1wtf	benign recurrent polyserositis|periodic disease|familial paroxysmal polyserositis|FMF|benign paroxysmal peritonitis											MedDRA:10016207|SCTID:12579009|UMLS:C0031069|ICD9:277.31|DOID:2987|Orphanet:342|ICD10:E85.0|NCIT:C84707|GARD:0006421|COHD:193445|MESH:D010505																		owl:Class
MONDO:0010374	biolink:NamedThing	retinitis pigmentosa 34	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.	mondoexuq1wtf	retinitis pigmentosa 34|RP34|retinitis pigmentosa type 34|RP 34											UMLS:C1845104|ICD10:H35.5|GARD:0010390|OMIM:300605|DOID:0110417|MESH:C564475														https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34				owl:Class
MONDO:0017284	biolink:NamedThing	Xp22.13p22.2 duplication syndrome		mondoexuq1wtf	dup(X)(p22)|dup(X)(p22.13p22.2)|Duplication Xp22											ICD10:Q99.8|Orphanet:284180|UMLS:CN202846																		owl:Class
MONDO:0005689	biolink:NamedThing	cannabis dependence	Physical and psychological dependence on the drug cannabis.	mondoexuq1wtf	marijuana abuse|marijuana dependence|cannabis abuse											EFO:0007191|MESH:D002189|DOID:9505|SCTID:85005007|NCIT:C34445|ICD9:305.2|DOID:1849|ICD10:F12|SCTID:37344009|ICD10:F12.1|ICD10:F12.2|ICD9:304.3|ICD9:304.30																		owl:Class
MONDO:0005303	biolink:NamedThing	drug dependence	Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.	mondoexuq1wtf	chemical dependence											ICD9:304|SCTID:191816009|ICD9:304.90|EFO:0003890|ICD9:304.60|COHD:440069|DOID:9974|ICD9:304.6|NCIT:C3894																		owl:Class
MONDO:0018647	biolink:NamedThing	secondary sclerosing cholangitis		mondoexuq1wtf												UMLS:C0400978|SCTID:197442005|Orphanet:447774|ICD10:K83.0																		owl:Class
MONDO:0018646	biolink:NamedThing	sclerosing cholangitis	A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.	mondoexuq1wtf	Primary sclerosing cholangitis|primary sclerosing cholangitis (PSC)|fibrosing cholangitis|sclerosing cholangitis (disease)|sclerosing cholangitis		sclerosing cholangitis (disease)									EFO:0004268|Orphanet:447771|ICD10:K83.0|DOID:14268|SCTID:235917005|HP:0030991|NCIT:C4828|UMLS:C0008313																		owl:Class
MONDO:0019776	biolink:NamedThing	Juberg-Marsidi syndrome	Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	mondoexuq1wtf	juberg Marsidi syndrome											Orphanet:93972|SCTID:721875000																		owl:Class
MONDO:0010545	biolink:NamedThing	Nance-Horan syndrome	Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.	mondoexuq1wtf	NHS|cataract, X-linked, with Hutchinsonian teeth|Nance-Horan syndrome|Mesiodens cataract syndrome|cataract dental syndrome|cataract-dental syndrome|Mesiodens-cataract syndrome|cataract X-linked with Hutchinsonian teeth											GARD:0007161|ICD9:759.89|OMIM:302350|MESH:C538336|SCTID:445257004|DOID:0060599|Orphanet:627|ICD10:Q87.0|UMLS:C0796085														https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome				owl:Class
MONDO:0044701	biolink:NamedThing	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		mondoexuq1wtf	CONDBA|neurodegeneration, childhood-onset, with brain atrophy|UBTF-related disorder											Orphanet:500180|OMIM:617672|UMLS:CN469330																		owl:Class
MONDO:0015322	biolink:NamedThing	Pierre Robin syndrome associated with bone disease		mondoexuq1wtf	Pierre Robin sequence associated with bone disease											Orphanet:138055|UMLS:CN199293														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0001856	biolink:NamedThing	splenic artery aneurysm		mondoexuq1wtf												COHD:194964|DOID:14006|UMLS:C0155747|ICD9:442.83|SCTID:70405009																		owl:Class
MONDO:0002886	biolink:NamedThing	common bile duct disease	A disease involving the common bile duct.	mondoexuq1wtf	disease or disorder of common bile duct|common bile duct disease|disease of common bile duct|disorder of common bile duct|common bile duct disease or disorder											DOID:4137|UMLS:C0009440|MESH:D003137																		owl:Class
MONDO:0021424	biolink:NamedThing	hemangiopericytoma of skin	A hemangiopericytoma that involves the zone of skin.	mondoexuq1wtf	hemangiopericytoma of the skin|zone of skin hemangiopericytoma|skin hemangiopericytoma											NCIT:C4492|UMLS:C0346084|SCTID:254796009																		owl:Class
MONDO:0020493	biolink:NamedThing	Haddad syndrome	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	mondoexuq1wtf	ondine-Hirschsprung syndrome|ondine-Hirschsprung disease|congenital central alveolar hypoventilation-Hirschsprung disease syndrome											Orphanet:99803|SCTID:719972004|ICD10:G47.3																		owl:Class
MONDO:0015824	biolink:NamedThing	oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	mondoexuq1wtf	Richieri-Costa-Gorlin syndrome|oculomaxillofacial dysplasia with oblique facial clefts|oblique facial clefts|Richieri Costa Gorlin syndrome											GARD:0004046|MESH:C537736|Orphanet:1794|UMLS:C1838348|SCTID:763830009|ICD10:Q75.1																		owl:Class
MONDO:0060496	biolink:NamedThing	neurodevelopmental disorder with hypotonia, neuropathy, and deafness		mondoexuq1wtf	NEDHND|myopathy, Congenital, with neuropathy and Deafness|neurodevelopmental disorder with hypotonia, neuropathy, and deafness											OMIM:617519|UMLS:C4479603																		owl:Class
MONDO:0021553	biolink:NamedThing	transverse myelitis		mondoexuq1wtf	Transverse Myelitis|Transverse Myelopathy Syndromes|Transverse myelitis|transverse myelitis|Transverse myelopathy syndrome|Myelitis, Transverse|transverse myelopathy syndrome|Transverse Myelopathy Syndrome											ICD9:323.9|UMLS:C0026976|SCTID:16631009|GARD:0007796																		owl:Class
MONDO:0002565	biolink:NamedThing	myelitis	An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.	mondoexuq1wtf	spinal cord inflammation|inflammation of spinal cord											EFO:1001472|ICD9:323.9|COHD:138965|GARD:0007130|UMLS:C0026975|NCIT:C26832|SCTID:41370002|DOID:322|MESH:D009187														https://rarediseases.info.nih.gov/diseases/7130/myelitis				owl:Class
MONDO:0010136	biolink:NamedThing	thyroid dyshormonogenesis 4	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.	mondoexuq1wtf	thyroid dyshormonogenesis type 4|hypothyroidism, congenital, due to dyshormonogenesis, 4|IYD familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 4|TDH4|deiodinase deficiency|iodotyrosine dehalogenase deficiency|thyroid dyshormonogenesis 4|familial thyroid dyshormonogenesis caused by mutation in IYD											OMIM:274800|UMLS:C0342195|SCTID:17885001|MESH:C562770																		owl:Class
MONDO:0016918	biolink:NamedThing	partial deletion of the long arm of chromosome 20		mondoexuq1wtf	partial monosomy of chromosome 20q|partial deletion of chromosome 20q|partial monosomy of the long arm of chromosome 20|partial deletion of the long arm of chromosome type 20											ICD10:Q93.5|Orphanet:262164																		owl:Class
MONDO:0024457	biolink:NamedThing	neurodegeneration with brain iron accumulation 2A		mondoexuq1wtf	infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|INAD1|neurodegeneration, Pla2G6-associated|Hunter Carpenter Macdonald syndrome|neurodegeneration, Pla2g6-associated|Seitelberger disease|KARAK syndrome, included|inaD|infantile neuroaxonal dystrophy 1|infantile neuroaxonal dystrophy|neurodegeneration with brain iron accumulation 2A|NBIA2A|neuroaxonal dystrophy, infantile|neurodegeneration, PLA2G6-associated|Hunter-Carpenter-McDonald syndrome|phospholipase A2-associated neurodegeneration|plan|neurodegeneration with brain iron accumulation type 2a|neurodegeneration with brain iron accumulation type 2A|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene					AR PLA2G6						DOID:0110735|Orphanet:35069|NCIT:C84927|GARD:0003957|ICD9:330.8|ICD10:G23.0|GARD:0002751|MESH:C536071|SCTID:52713000|OMIM:256600														https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome				owl:Class
MONDO:0004446	biolink:NamedThing	olfactory groove meningioma	A meningioma that affects the olfactory sulcus.	mondoexuq1wtf	olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma of olfactory groove|meningioma (disease) of olfactory sulcus											UMLS:C1335107|DOID:8057|NCIT:C6771																		owl:Class
MONDO:0002997	biolink:NamedThing	anterior cranial fossa meningioma	A meningioma that affects the anterior cranial fossa.	mondoexuq1wtf	anterior cranial fossa meningioma (disease)|meningioma of the anterior cranial fossa|meningioma of the anterior fossa|anterior fossa meningioma|meningioma of anterior cranial fossa|meningioma of anterior fossa|meningioma (disease) of anterior cranial fossa											DOID:4436|UMLS:C1332301|NCIT:C5286																		owl:Class
MONDO:0009378	biolink:NamedThing	hyper-beta-alaninemia	Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.	mondoexuq1wtf	hyper-beta-alaninemia|hyperalaninemia|hyperbetaalaninemia											UMLS:C0268630|Orphanet:309147|OMIM:237400|ICD10:E79.8|GARD:0010267|MESH:C562684|ICD9:270.8|SCTID:2359002														https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia				owl:Class
MONDO:0019500	biolink:NamedThing	extragonadal teratoma	Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.	mondoexuq1wtf												SCTID:768937006|MedDRA:10043276|Orphanet:883																		owl:Class
MONDO:0008908	biolink:NamedThing	MGAT2-CDG	MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	mondoexuq1wtf	CDGS2|CDG-IIa|carbohydrate-deficient glycoprotein syndrome, type II|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type IIa|CDG2A|CDG 2A|mental retardation, Growth retardation, prominent columella, and open mouth|congenital disorder of glycosylation type 2a|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|MGAT2-CDG (CDG-IIa)|CDG IIa|congenital disorder of glycosylation, type IIa|intellectual disability, Growth retardation, prominent columella, and open mouth|carbohydrate-deficient glycoprotein syndrome type 2|Alkuraya syndrome|CDG syndrome type IIa|congenital disorder of glycosylation type IIa											SCTID:724142005|MESH:C535752|GARD:0009828|ICD10:E77.8|UMLS:C2931008|Orphanet:79329|DOID:0070253|OMIM:212066																		owl:Class
MONDO:0016485	biolink:NamedThing	Usher syndrome type 3	A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.	mondoexuq1wtf	USH3											Orphanet:231183|GARD:0005442|DOID:0110828|ICD10:H35.5|NCIT:C126329|UMLS:C1568248																		owl:Class
MONDO:0019501	biolink:NamedThing	Usher syndrome	Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.	mondoexuq1wtf	deafness-retinitis pigmentosa syndrome|Usher's syndrome|Graefe-Usher syndrome|retinitis pigmentosa-deafness syndrome|Hallgren syndrome|ush|dystrophia retinae pigmentosa-dysostosis syndrome											NCIT:C85217|Orphanet:886|MESH:D052245|OMIMPS:276900|GARD:0007843|UMLS:C0271097|DOID:0050439|MedDRA:10063396|ICD10:H35.5																		owl:Class
MONDO:0007215	biolink:NamedThing	brachydactyly type A1	Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.	mondoexuq1wtf	Farabee-type brachydactyly|brachydactyly Farabee type|BDA1|brachydactyly, Farabee type|Farabee type brachydactyly|brachydactyly, type A1											DOID:0110964|Orphanet:93388|ICD10:Q73.8|UMLS:C1862151|GARD:0000978|MESH:C537088|SCTID:715720006														https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1				owl:Class
MONDO:0010286	biolink:NamedThing	syndromic X-linked intellectual disability Siderius type		mondoexuq1wtf	mental retardation, X-linked, syndromic, Siderius type|intellectual disability X-linked Siderius type|X-linked mental retardation Hamel type|Siderius X-linked mental retardation syndrome|intellectual deficit X-linked Siderius type|X-linked intellectual disability Hamel type|X-linked intellectual disability, Siderius type|intellectual disability, X-linked, syndromic, Siderius type|Siderius-Hamel syndrome|Siderius Hamel syndrome|MRXSSD|Siderius X-linked intellectual disability syndrome|mental retardation syndrome, X-linked, Siderius type|mental retardation X-linked Siderius type|intellectual disability syndrome, X-linked, Siderius type											OMIM:300263|ICD10:Q87.8|MESH:C537333|GARD:0009704|UMLS:C1846055|DOID:0060812|Orphanet:85287																		owl:Class
MONDO:0009383	biolink:NamedThing	transient familial neonatal hyperbilirubinemia		mondoexuq1wtf	Lucey-Driscoll syndrome|transient familial hyperbilirubinemia|breast milk jaundice|hyperbilirubinemia, transient familial neonatal|HBLRTFN|hyperbilirubinemia transient familial neonatal											OMIM:237900|GARD:0003304|MESH:C562692|UMLS:C0270210|Orphanet:2312|GARD:0002791|ICD10:P59.8														https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal				owl:Class
MONDO:0030986	biolink:NamedThing	blistering, acantholytic, of oral and laryngeal mucosa		mondoexuq1wtf	ABOLM											OMIM:619226																		owl:Class
MONDO:0009372	biolink:NamedThing	encephalopathy due to hydroxykynureninuria	Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.	mondoexuq1wtf	hydroxykynureninuria|kynureninase deficiency, partial|kynureninase deficiency|Xanthurenic aciduria											MESH:C536081|OMIM:236800|ICD9:270.2|ICD10:E70.8|SCTID:72945002|UMLS:C0268474|GARD:0010039|Orphanet:79155																		owl:Class
MONDO:0017350	biolink:NamedThing	inborn disorder of tryptophan metabolism	An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process.	mondoexuq1wtf	disorder of tryptophan metabolism|inborn tryptophan metabolic process disorder|rare inborn error of tryptophan metabolic process|inborn error of tryptophan metabolic process											Orphanet:289829|ICD10:E70.8|UMLS:CN203012|SCTID:5181007|ICD9:270.2																		owl:Class
MONDO:0019702	biolink:NamedThing	neonatal osteosclerotic dysplasia		mondoexuq1wtf												Orphanet:93443|SCTID:389236000|UMLS:C1300205																		owl:Class
MONDO:0010632	biolink:NamedThing	developmental and epileptic encephalopathy, 1	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.	mondoexuq1wtf	EIEE1|DEE1|infantile epileptic-dyskinetic encephalopathy|epileptic encephalopathy, early infantile, 1|XMESID|epileptic encephalopathy, early infantile, type 1|early infantile epileptic encephalopathy caused by mutation in ARX|arx early infantile epileptic encephalopathy|West syndrome, X-linked|ARX early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in arx|infantile spasm syndrome, X-linked 1|Ohtahara syndrome, X-linked											DOID:0080468|UMLS:C3463992|OMIM:308350																		owl:Class
MONDO:0000284	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type		mondoexuq1wtf	nephropathia epidemica|nephropathis epidemica											DOID:0050201|UMLS:C0242993																		owl:Class
MONDO:0015487	biolink:NamedThing	fatal infantile encephalocardiomyopathy	Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	mondoexuq1wtf	fatal infantile encephalomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|fatal infantile COX deficiency|fatal infantile cytochrome C oxidase deficiency					Editor note: check GARD xref						DOID:0050713|GARD:0001113|Orphanet:1561|DC:0000488|SCTID:718124006|ICD10:G71.3														https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy				owl:Class
MONDO:0009493	biolink:NamedThing	Richards-Rundle syndrome	Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.	mondoexuq1wtf	RICHARDS-RUNDLE syndrome|ataxia-deafness-retardation syndrome with ketoaciduria|familial ataxia-hypogonadism syndrome|ataxia-deafness-intellectual disability syndrome|ketoaciduria - intellectual disability - ataxia - deafness|ketoaciduria-intellectual disability-ataxia-deafness syndrome|ketoaciduria-mental deficiency syndrome|ataxia-deafness-mental retardation syndrome|RRNS|Richards-Rundle syndrome											GARD:0008423|Orphanet:1399|SCTID:715415005|MESH:C535674|ICD10:G60.2|OMIM:245100|UMLS:C0796136																		owl:Class
MONDO:0020432	biolink:NamedThing	ectasia of the right atrial appendage	Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.	mondoexuq1wtf	dilatation of the right atrial auricle|dilatation of the right atrial appendage|ectasia of the right atrial auricle											ICD10:Q20.8|Orphanet:99101																		owl:Class
MONDO:0018976	biolink:NamedThing	schisis association	Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	mondoexuq1wtf	Midline development field defects											Orphanet:63862|ICD10:Q87.8|SCTID:718095000|UMLS:C2931271|MESH:C536633|GARD:0000246														https://rarediseases.info.nih.gov/diseases/246/schisis-association				owl:Class
MONDO:0009769	biolink:NamedThing	oculo-palato-cerebral syndrome	Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	mondoexuq1wtf	oculopalatocerebral dwarfism|oculopalatocerebral syndrome|oculo-palato-cerebral dwarfism|OPC dwarfism											ICD10:Q87.1|MESH:C564935|OMIM:257910|Orphanet:2714|UMLS:C1850338|SCTID:722055008																		owl:Class
MONDO:0018771	biolink:NamedThing	congenital anomaly of ventricular septum	A congenital heart malformation that involves the interventricular septum.	mondoexuq1wtf	congenital heart malformation of interventricular septum|congenital anomaly of interventricular communication|congenital ventricular septal anomaly|rare congenital anomaly of ventricular septum|interventricular septum congenital heart malformation											Orphanet:474347																		owl:Class
MONDO:0011654	biolink:NamedThing	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism		mondoexuq1wtf	Kondoh syndrome|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism											OMIM:606242|UMLS:C1853480|MESH:C565246																		owl:Class
MONDO:0000382	biolink:NamedThing	respiratory system benign neoplasm	A benign neoplasm that involves the respiratory system.	mondoexuq1wtf	respiratory system benign neoplasm											DOID:0050621|SCTID:255166003|UMLS:C0497556																		owl:Class
MONDO:0008068	biolink:NamedThing	navicular bone, accessory		mondoexuq1wtf	navicular bone, accessory											MESH:C536002|OMIM:161600|GARD:0008543																		owl:Class
MONDO:0012758	biolink:NamedThing	prostate cancer, hereditary, 13	Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.	mondoexuq1wtf	prostate cancer, hereditary, 13|MSMB familial prostate cancer|familial prostate cancer caused by mutation in MSMB|prostate cancer, hereditary, type 13|HPC13											MESH:C567456|UMLS:C2677821|OMIM:611928																		owl:Class
MONDO:0025445	biolink:NamedThing	Wieacker-Wolff syndrome (spectrum)		mondoexuq1wtf						Grouping for the X-linked form seen mostly in males and female-restricted						OMIMPS:314580																		owl:Class
MONDO:0022723	biolink:NamedThing	chondrodysplasia		mondoexuq1wtf	chondrodysplasia											SCTID:205465004																		owl:Class
MONDO:0016011	biolink:NamedThing	fetal alcohol syndrome	Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).	mondoexuq1wtf	ARBD|ARND|FAS|FASD|alcohol-related birth defects|alcohol-related neurodevelopmental disorder|fetal alcohol spectrum disorders|static encephalopathy											MedDRA:10016845|ICD10:Q86.0|UMLS:C0015923|SCTID:205788004|NCIT:C84713|DOID:0050665|Orphanet:1915|DOID:0050667																		owl:Class
MONDO:0022926	biolink:NamedThing	daentl towsend Siegel syndrome		mondoexuq1wtf	familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome|hydrocephalus blue sclera nephropathy											MESH:C535768|GARD:0000236														https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome				owl:Class
MONDO:0007887	biolink:NamedThing	leiomyoma of vulva and esophagus		mondoexuq1wtf	esophagogastric and vulvar leiomyomatosis|leiomyoma of vulva and esophagus|leiomyomatosis, esophagogastric and vulvar											MESH:C537006|UMLS:C1835488|GARD:0010097|OMIM:150700														https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus				owl:Class
MONDO:0010641	biolink:NamedThing	X-linked diffuse leiomyomatosis-Alport syndrome	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.	mondoexuq1wtf	leiomyomatosis, diffuse, with Alport syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|chromosome Xq22.3 centromeric deletion syndrome|diffuse leiomyomatosis in Alport syndrome|Alport syndrome and diffuse leiomyomatosis|Xq22.3 microdeletion syndrome|DL-ATS|ATS-DL|Alport syndrome with diffuse leiomyomatosis											OMIM:308940|ICD10:Q87.8|GARD:0002432|MESH:C537113|Orphanet:1018																		owl:Class
MONDO:0013158	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related|MDDGA6											UMLS:C3150414|DOID:0111242|NCIT:C126743|OMIM:613154																		owl:Class
MONDO:0017290	biolink:NamedThing	familial intrahepatic cholestasis	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary intrahepatic cholestasis											ICD9:576.8|Orphanet:284385|ICD10:K83.1|UMLS:CN239338|UMLS:CN227107|SCTID:74162007																		owl:Class
MONDO:0018494	biolink:NamedThing	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	mondoexuq1wtf												Orphanet:423306|UMLS:CN237496|ICD10:Q87.1																		owl:Class
MONDO:0030981	biolink:NamedThing	immunodeficiency 79		mondoexuq1wtf	immunodeficiency 79|IMD79|CD4 Deficiency											OMIM:619238																		owl:Class
MONDO:0008306	biolink:NamedThing	ABri amyloidosis	A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	mondoexuq1wtf	Bri amyloidosis|dementia familial British|familial dementia, British type|cerebral amyloid angiopathy, ITM2B-related, type 1|cerebral amyloid angiopathy, ITM2B-RELATED, 1|dementia, familial British|familial British dementia|presenile dementia with spastic ataxia|ABri amyloidosis|cerebral amyloid angiopathy, British type|FBD|ITM2B-related cerebral amyloid angiopathy 1											ICD10:I68.0*|MESH:C538208|Orphanet:97345|ICD10:E85.4+|OMIM:176500|GARD:0008344|UMLS:C1867773|DOID:0070029														https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british				owl:Class
MONDO:0010321	biolink:NamedThing	autism, susceptibility to, X-linked 1		mondoexuq1wtf	susceptibility to X-linked autism 1|autism, susceptibility to, X-linked 1|AUTSX1|autism, susceptibility to, X-linked type 1											OMIM:300425																		owl:Class
MONDO:0020836	biolink:NamedThing	autism, susceptiblity to		mondoexuq1wtf												OMIMPS:209850																		owl:Class
MONDO:0016979	biolink:NamedThing	MRCS syndrome	MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.	mondoexuq1wtf	microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome											Orphanet:263347																		owl:Class
MONDO:0013310	biolink:NamedThing	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.	mondoexuq1wtf	disordered steroidogenesis due to cytochrome P450 oxidoreductase|congenital adrenal hyperplasia due to cytochrome POR deficiency|disordered steroidogenesis due to POR deficiency|POR deficiency|PORD|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency											OMIM:613571|ICD10:E25.0|Orphanet:95699|SCTID:715733000|GARD:0012664														https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency				owl:Class
MONDO:0009584	biolink:NamedThing	intellectual disability, Buenos-Aires type	Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	mondoexuq1wtf	intellectual disability Buenos Aires type|mental retardation Buenos Aires type|intellectual deficit Buenos-Aires type|Mutchinick syndrome|mental retardation, Buenos Aires type|intellectual disability, Buenos Aires type											ICD10:Q87.8|UMLS:C0796080|GARD:0003485|MESH:C563095|OMIM:249630|Orphanet:3079|SCTID:725906006														https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type				owl:Class
MONDO:0000743	biolink:NamedThing	oral hairy leukoplakia	An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.	mondoexuq1wtf	oral hairy keratosis|hairy leukoplakia of mouth|hairy leukoplakia of the mouth|oral cavity hairy leukoplakia|hairy leukoplakia|mouth hairy leukoplakia|hairy leukoplakia of the oral mucosa|hairy leukoplakia of oral mucosa											UMLS:C0206186|ICD10:K13.3|NCIT:C3722|ICD9:528.6|MESH:D017733|DOID:0060315|SCTID:414952002																		owl:Class
MONDO:0008673	biolink:NamedThing	acrofacial dysostosis, Weyers type	Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.	mondoexuq1wtf	curry Hall syndrome|acrodental dysostosis of Weyers|Weyers acrofacial dysostosis|Weyers acrodental dysostosis|curry-Hall syndrome|acrofacial dysostosis of Weyers|wad											SCTID:277807007|GARD:0000497|ICD9:520.8|DOID:0111571|MESH:C536695|ICD10:Q75.4|Orphanet:952|OMIM:193530|UMLS:C0457013																		owl:Class
MONDO:0012156	biolink:NamedThing	myasthenic syndrome, congenital, 1B, fast-channel	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.	mondoexuq1wtf	myasthenic syndrome, congenital, 1B, FAST-channel|myasthenic syndrome, congenital, 1B, fast-channel|congenital myasthenic syndrome type 1B|congenital myasthenic syndrome 1B|CMS1B|congenital myasthenic syndrome 1B, fast-channel											DOID:0110662|UMLS:C1837122|UMLS:C4225405|OMIM:608930																		owl:Class
MONDO:0019024	biolink:NamedThing	mast cell sarcoma	A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)	mondoexuq1wtf	sarcoma of mast cell|mast-cell sarcoma|MCSL|MCS|mast cell sarcoma											SCTID:118615008|EFO:1000364|DOID:355|ICD10:C96.2|NCIT:C9348|MESH:D012515|Orphanet:66661|ONCOTREE:MCSL|UMLS:C0036221|ICDO:9740/3|ICD9:202.6																		owl:Class
MONDO:0007950	biolink:NamedThing	mastocytosis	A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.	mondoexuq1wtf	mast cell hyperplasia|mastocytosis|urticaria pigmentosa|MAST cell disease|Mast cell disease											OMIM:154800|MedDRA:10026891|UMLS:C0024899|MESH:D008415|DOID:350|ONCOTREE:MCD|ICD10:C96.2|ICD10:D47.0|NCIT:C84269|ICD10:Q82.2|Orphanet:98292|GARD:0006987																		owl:Class
MONDO:0035136	biolink:NamedThing	isolated melanotic schwannoma		mondoexuq1wtf												Orphanet:590539																		owl:Class
MONDO:0001040	biolink:NamedThing	nasopharyngitis	An inflammatory process that affects the nasopharynx.	mondoexuq1wtf	chronic nasopharyngitis|nasopharynx inflammation|inflammation of nasopharynx											DOID:10460|COHD:441321|NCIT:C34837|ICD9:472.2|MESH:D009304|UMLS:C0027441|ICD10:J00|SCTID:47841006|ICD10:J31.1|UMLS:C0155826																		owl:Class
MONDO:0001363	biolink:NamedThing	blind hypertensive eye		mondoexuq1wtf												COHD:377551|DOID:11776|ICD9:360.42|UMLS:C0154789|SCTID:264008																		owl:Class
MONDO:0020326	biolink:NamedThing	lymphomatoid papulosis	Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.	mondoexuq1wtf	LyP|LYP											GARD:0006944|EFO:1000341|MedDRA:10056670|ICD9:447.8|UMLS:C0206182|ICD10:L41.2|SCTID:31047003|ICDO:9718/1|MESH:D017731|Orphanet:98842|ICD10:C86.6|ONCOTREE:LYP|NCIT:C3721														https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis				owl:Class
MONDO:0002921	biolink:NamedThing	congenital structural myopathy	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.	mondoexuq1wtf	centronuclear myopathy											NCIT:C84648|MESH:D020914|UMLS:C0752282|DOID:422																		owl:Class
MONDO:0015367	biolink:NamedThing	Charlie M syndrome	Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	mondoexuq1wtf												SCTID:733034007|ICD10:Q87.0|UMLS:CN199458|Orphanet:1406|UMLS:C4518555|GARD:0001261														https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome				owl:Class
MONDO:0019736	biolink:NamedThing	dense deposit disease	Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.	mondoexuq1wtf	glomerulonephritis membranoproliferative type 2|membranoproliferative glomerulonephritis type 2|MPGN 2|membranoproliferative glomerulonephritis type II|Mesangiocapillary glomerulonephritis type 2											Orphanet:93571|UMLS:C0268743|SCTID:722760002|GARD:0008555|ICD10:N04.6|NCIT:C123039																		owl:Class
MONDO:0018013	biolink:NamedThing	non-immunoglobulin-mediated membranoproliferative glomerulonephritis		mondoexuq1wtf	non-immunoglobulin-mediated MPGN|C3 glomerulopathy|non-Ig-mediated membranoproliferative glomerulonephritis|non-Ig-mediated MPGN											ICD10:N00.5|Orphanet:329918																		owl:Class
MONDO:0016826	biolink:NamedThing	methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).	mondoexuq1wtf	combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic acidemia and homocystinemia|methylmalonic aciduria with homocystinuria											GARD:0003579|MESH:C537359|Orphanet:26|ICD10:E71.1|DC:0000274														https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria				owl:Class
MONDO:0004737	biolink:NamedThing	homocystinuria	An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.	mondoexuq1wtf	homocystinuria (disease)|CBS deficiency|cystathionine beta synthase deficiency|homocystinuria|cystathionine synthase deficiency		homocystinuria (disease)									HP:0002156|GARD:0010770|ICD10:E72.11|SCTID:11282001|NCIT:C84765|DOID:9263|UMLS:C0019880																		owl:Class
MONDO:0013881	biolink:NamedThing	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.	mondoexuq1wtf	congenital NEP syndrome|JEB with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|junctional epidermolysis bullosa with respiratory and renal involvement|JEB-RR|ILNEB|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|congenital ILNEB syndrome|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome											UMLS:C3553636|OMIM:614748|Orphanet:306504																		owl:Class
MONDO:0009387	biolink:NamedThing	familial lipoprotein lipase deficiency	Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.	mondoexuq1wtf	lipoprotein lipase deficiency, familial|hyperlipoproteinemia, type I|LPL deficiency|hyperlipoproteinemia, type 1|familial LPL deficiency|endogenous hypertriglyceridaemia|type I hyperlipoproteinemia|familial hyperlipoproteinemia type I|chylomicronemia, familial|familial chylomiconemia syndrome|familial lipoprotein lipase deficiency with type I phenotype|hyperlipemia, essential familial|hyperlipemia, idiopathic, Burger-Grutz type|familial lipoprotein lipase deficiency (disorder) [ambiguous]|Fredrickson type I lipaemia|lipoprotein lipase deficiency|familial hyperchylomicronemia|mixed hyperglyceridemia|hyperchylomicronemia, familial|hypercholesterinaemic xanthomatosis|lipase D deficiency|Burger-Grutz syndrome|hyperlipoproteinemia type I|familial fat-induced hypertriglyceridemia|hyperchylomicronemia|lipd deficiency|Fredrickson type I hyperlipoproteinemia|hyperlipoproteinemia, type 1A											GARD:0012241|OMIM:238600|DOID:14118|COHD:437521|NCIT:C84771|ICD9:272.3|MESH:D008072|Orphanet:309015|SCTID:275598004|ICD10:E78.3														https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency				owl:Class
MONDO:0015648	biolink:NamedThing	startle epilepsy	Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.	mondoexuq1wtf												UMLS:CN200058|ICD10:G40.8|Orphanet:166427|SCTID:763632004																		owl:Class
MONDO:0008172	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal dominant		mondoexuq1wtf	hypertrophic osteoarthropathy, primary, autosomal dominant|pachydermoperiostosis, autosomal dominant|Pho, autosomal dominant|PDP, autosomal dominant|PHOAD											UMLS:C2674695|OMIM:167100																		owl:Class
MONDO:0009799	biolink:NamedThing	pachydermoperiostosis		mondoexuq1wtf	hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Touraine Solente Gole syndrome|PDP|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|PHOAR1|Touraine-Solente-Gole syndrome											Orphanet:2796|ICD10:M89.4|UMLS:CN202658|SCTID:88220006|GARD:0007299|MedDRA:10051686																		owl:Class
MONDO:0008192	biolink:NamedThing	paragangliomas 1	Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.	mondoexuq1wtf	paragangliomas 1|glomus jugulare tumors|glomus tumors, familial, 1|paragangliomas, familial, 1|paragangliomas type 1|paragangliomas with sensorineural hearing loss|PGL1|paraganglioma, carotid body|carotid body tumors|Paragangliomata|SDHD paraganglioma|paraganglioma caused by mutation in SDHD|chemodectomas|paragangliomas, familial nonchromaffin, 1											OMIM:168000|GARD:0007324																		owl:Class
MONDO:0000726	biolink:NamedThing	idiopathic scoliosis	A scoliosis with no known cause.	mondoexuq1wtf												UMLS:CN241052|SCTID:203639008|DOID:0060250																		owl:Class
MONDO:0016681	biolink:NamedThing	gliosarcoma	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).	mondoexuq1wtf	glioblastoma with a sarcomatous component|glioblastoma with sarcomatous component|sarcomatous glioblastoma|gliosarcoma											DOID:3071|Orphanet:251576|UMLS:C0206726|ICDO:9442/3|ONCOTREE:GSARC|NCIT:C3796|MESH:D018316|EFO:1001465|MedDRA:10018340|ICD10:G71.9|GARD:0005653														https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma				owl:Class
MONDO:0002501	biolink:NamedThing	brain glioblastoma	A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.	mondoexuq1wtf	grade IV brain astrocytic tumor|grade IV astrocytic tumor of brain|brain glioblastoma|glioblastoma multiforme of brain|grade IV astrocytic neoplasm of the brain|grade IV astrocytic tumor of the brain|glioblastoma (disease) of brain|glioblastoma multiforme of the brain|brain glioblastoma multiforme|grade IV astrocytic neoplasm of brain|brain glioblastoma (disease)|brain glioblastoma multiforme (disease)|grade IV brain astrocytic neoplasm											EFO:0006545|SCTID:276828006|NCIT:C4642|DOID:3073|UMLS:C0349543																		owl:Class
MONDO:0019407	biolink:NamedThing	microcephalic osteodysplastic dysplasia, Saul-Wilson type	A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.	mondoexuq1wtf	microcephalic osteodysplastic dysplasia, Saul-Wilson type|microcephalic osteodysplastic dysplasia|Saul-Wilson syndrome|SWILS											Orphanet:85172|ICD10:Q78.8|OMIM:618150|DOID:0111673																		owl:Class
MONDO:0013801	biolink:NamedThing	developmental and epileptic encephalopathy, 13	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 13|EIEE13|DEE13|early infantile epileptic encephalopathy caused by mutation in SCN8A|epileptic encephalopathy, early infantile, type 13|SCN8A epilepsy|early infantile epileptic encephalopathy-13|SCN8A encephalopathy|SCN8A early infantile epileptic encephalopathy											SCTID:765170001|OMIM:614558|DOID:0080445|UMLS:C3281191|GARD:0013085																		owl:Class
MONDO:0013252	biolink:NamedThing	Warsaw breakage syndrome	A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.	mondoexuq1wtf	WARSAW breakage syndrome|Warsaw breakage syndrome|WABS											OMIM:613398|UMLS:C3150658|DOID:0060535|SCTID:702829000|Orphanet:280558|ICD9:759.89																		owl:Class
MONDO:0016950	biolink:NamedThing	partial duplication of the short arm of chromosome 17		mondoexuq1wtf	partial trisomy of the short arm of chromosome 17|partial duplication of chromosome 17p|partial trisomy of chromosome 17p|partial duplication of the short arm of chromosome type 17											Orphanet:262803																		owl:Class
MONDO:0011759	biolink:NamedThing	Hurler-Scheie syndrome	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	mondoexuq1wtf	mucopolysaccharidosis IH/S|mucopolysaccharidosis type Ih/S|MPSIH/S|mucopolysaccharidosis, mps-I-s|Scheie's syndrome|l-iduronidase deficiency, Scheie type|MPS1H/S|MPS I H-S|MPS1-HS|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis type I mild form|mucopolysaccharidosis type IH/S|Hurler-Scheie syndrome|Scheie disease mps type 1s|mucopolysaccharidosis type I-S|Hurler–Scheie syndrome											GARD:0012560|NCIT:C122782|Orphanet:93476|UMLS:C0086431|MedDRA:10056916|SCTID:73123008|DOID:0111389|ICD10:E76.0|OMIM:607015																		owl:Class
MONDO:0018679	biolink:NamedThing	primary cutaneous plasmacytosis		mondoexuq1wtf												Orphanet:451602|ICD10:L98.6																		owl:Class
MONDO:0021477	biolink:NamedThing	benign neoplasm of sphenoidal sinus	A non-metastasizing neoplasm that arises from the sphenoid sinus.	mondoexuq1wtf	benign neoplasm of sphenoid sinus|benign tumor of the sphenoid sinus|benign neoplasm of the sphenoidal sinus|benign neoplasm of the sphenoid sinus|benign tumor of the sphenoidal sinus|benign sphenoidal sinus neoplasm|benign tumor of sphenoid sinus|benign sphenoid sinus neoplasm|benign tumor of sphenoidal sinus|sphenoidal sinus benign neoplasm|benign sphenoidal sinus tumor|benign sphenoid sinus tumor											SCTID:92404006|ICD9:212.0|UMLS:C0345678|NCIT:C4422																		owl:Class
MONDO:0017624	biolink:NamedThing	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).	mondoexuq1wtf	FHHNC|Michellis-Castrillo syndrome											Orphanet:306516|GARD:0009891|ICD10:E83.4|UMLS:CN203511														https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis				owl:Class
MONDO:0018100	biolink:NamedThing	familial primary hypomagnesemia	A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.	mondoexuq1wtf	HOMG|familial primary hypomagnesemia|primary familial hypomagnesemia|hypomagnesemia											ICD10:E83.4|GARD:0002906|OMIMPS:602014|NCIT:C123263|DOID:0060879|Orphanet:34526|SCTID:80710001																		owl:Class
MONDO:0013710	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 5	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.	mondoexuq1wtf	hereditary nonpolyposis colon cancer caused by mutation in MSH6|colorectal cancer, hereditary nonpolyposis, type 5|HNPCC5|MSH6 hereditary nonpolyposis colon cancer											OMIM:614350|DOID:0070272|UMLS:C1833477|MESH:C563456																		owl:Class
MONDO:0004844	biolink:NamedThing	oral mucosa leukoplakia	A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	mondoexuq1wtf	oral leukoplakia|leukoplakia of the oral mucosa|oral keratosis|leukoplakia of oral mucosa|leukokeratosis of oral mucosa|oral keratoses											MESH:D007972|ICD10:K13.2|NCIT:C3187|COHD:138466|GARD:0007260|UMLS:C0023532|ICD9:528.6|DOID:9655|ICD10:K13.21|SCTID:414603003																		owl:Class
MONDO:0044992	biolink:NamedThing	mouth mucosa disease	A disease or disorder that involves the mouth mucosa.	mondoexuq1wtf	disease of mouth mucosa|disease or disorder of mouth mucosa|disorder of oral mucous membrane|disorder of mouth mucosa|mouth mucosa disease or disorder|oral mucous membrane disease											UMLS:C1290071|SCTID:128046007																		owl:Class
MONDO:0008133	biolink:NamedThing	optic atrophy 3		mondoexuq1wtf	OPA3, autosomal dominant|optic atrophy, cataract, and neurologic disorder|optic atrophy 3, autosomal dominant|autosomal dominant optic atrophy type 3|optic atrophy 3|OPA3|optic atrophy 3 with cataract|optic atrophy and cataract, autosomal dominant											DOID:0111433|MESH:C537128|SCTID:719517009|OMIM:165300|UMLS:C1833809|GARD:0010203|ICD10:H47.2|Orphanet:67036														https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract				owl:Class
MONDO:0010155	biolink:NamedThing	Dorfman-Chanarin disease		mondoexuq1wtf	NLSDI|neutral lipid storage disease with ichthyosis|Dorfman-Chanarin syndrome|triglyceride storage disease with impaired long-chain fatty acid oxidation|Chanarin-Dorfman syndrome|neutral lipid storage disease with ichthyotic|DCs|Dorfman Chanarin syndrome|CDS|Chanarin-Dorfman disease|disorder of cornification 12 (neutral lipid storage type)|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral Lipid storage disease|neutral Lipid storage disease with ichthyosis											SCTID:19604005|Orphanet:98907|OMIM:275630|GARD:0003979|ICD10:E75.5																		owl:Class
MONDO:0013377	biolink:NamedThing	isolated microphthalmia 7	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.	mondoexuq1wtf	microphthalmia, isolated 7|isolated microphthalmia type 7|MCOP7|isolated microphthalmia caused by mutation in GDF3|GDF3 isolated microphthalmia|microphthalmia, isolated type 7											DOID:0060838|UMLS:C3150969|ICD10:Q11.0|OMIM:613704																		owl:Class
MONDO:0010879	biolink:NamedThing	CODAS syndrome	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	mondoexuq1wtf	cerebro-oculo-dento-auriculo-skeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome|CODAS syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome											OMIM:600373|MESH:C536434|DOID:0111274|Orphanet:1458|SCTID:717772000|UMLS:C1838180|ICD10:Q87.8|NCIT:C126744|GARD:0001418														https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome				owl:Class
MONDO:0004033	biolink:NamedThing	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.	mondoexuq1wtf	familiar ovarian carcinoma|hereditary ovarian carcinoma|familial ovarian carcinoma|hereditary ovarian cancer											UMLS:C1333992|NCIT:C36102|DOID:6901																		owl:Class
MONDO:0005140	biolink:NamedThing	ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002	mondoexuq1wtf	epithelial ovarian cancer|ovarian cancer|ovarian epithelial cancer|ovarian carcinoma|carcinoma of ovary|ovary carcinoma|carcinoma of the ovary					Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT.						EFO:0001075|DOID:4001|NCIT:C4908																		owl:Class
MONDO:0011898	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive		mondoexuq1wtf	Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive											UMLS:C1843183|OMIM:607706																		owl:Class
MONDO:0012014	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate A	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.	mondoexuq1wtf	Charcot-Marie-Tooth disease, recessive intermediate A|CMTRIA|Ri-Cmta|Charcot-Marie-Tooth disease recessive intermediate type A|RI-CMT type A|Charcot-Marie-Tooth neuropathy recessive intermediate A|Charcot-Marie-Tooth disease, recessive intermediate, A|GDAP1 Charcot-Marie-Tooth disease|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|Charcot-Marie-Tooth disease caused by mutation in GDAP1|Charcot-Marie-Tooth disease, recessive Intermediate type a|RI-CMTA											DOID:0110201|ICD10:G60.0|GARD:0012453|Orphanet:217055|OMIM:608340|MESH:C564256|UMLS:C1842197																		owl:Class
MONDO:0011066	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).	mondoexuq1wtf	Charcot-Marie-Tooth disease, type 4B1|CMT 4B|Charcot Marie Tooth disease type 4B1|CMT 4B1|Charcot-Marie-Tooth neuropathy, type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|Charcot-Marie-Tooth neuropathy type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|CMT4B1|Charcot-Marie-Tooth disease, type 4B											Orphanet:99955|DOID:0110191|SCTID:715803003|GARD:0001253|ICD10:G60.0|MESH:C535420|UMLS:C1832399|OMIM:601382														https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1				owl:Class
MONDO:0019655	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis		mondoexuq1wtf	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis											ICD10:N04.1|Orphanet:93218|UMLS:CN206528																		owl:Class
MONDO:0001753	biolink:NamedThing	female infertility of uterine origin		mondoexuq1wtf	infertility, female, of uterine origin											DOID:13589|ICD9:628.3|SCTID:26899006|COHD:201635|ICD10:N97.2																		owl:Class
MONDO:0015921	biolink:NamedThing	ARX-related epileptic encephalopathy		mondoexuq1wtf												Orphanet:182079																		owl:Class
MONDO:0010211	biolink:NamedThing	xeroderma pigmentosum group C	An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.	mondoexuq1wtf	XP, Group C|xeroderma pigmentosum, type 3|XP3|xeroderma pigmentosum, complementation group C|XP-C|XPCC|xeroderma pigmentosum, complementation group type C|xeroderma pigmentosum group type C|XPC|xeroderma pigmentosum III|XP group C|xeroderma pigmentosum 3											UMLS:C2752147|ICD10:Q82.1|DOID:0110844|GARD:0005626|NCIT:C114770|OMIM:278720|Orphanet:276255|SCTID:25784009|MESH:C567886																		owl:Class
MONDO:0007160	biolink:NamedThing	Stickler syndrome type 1		mondoexuq1wtf	Stickler syndrome, vitreous type 1|Stickler syndrome, type I|Stickler syndrome, type 1|STL1|Stickler syndrome, membranous vitreous type|arthroophthalmopathy, hereditary progressive											MESH:C537492|ICD10:Q87.5|Orphanet:90653|OMIM:108300|GARD:0005018																		owl:Class
MONDO:0005944	biolink:NamedThing	Rhabdoviridae infectious disease	Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.	mondoexuq1wtf	infections, Rhabdoviridae|infection, Rhabdoviridae|Rhabdoviridae infection											MESH:D018353|UMLS:C0206751|EFO:0007469																		owl:Class
MONDO:0012581	biolink:NamedThing	osteogenesis imperfecta type 8	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.	mondoexuq1wtf	osteogenesis imperfecta, type 8|osteogenesis imperfecta, type VIII|OI8|OI type VIII|OI, type 8|P3H1 osteogenesis imperfecta|osteogenesis imperfecta type VIII|osteogenesis imperfecta caused by mutation in P3H1											GARD:0010152|ICD10:Q78.0|DOID:0110336|MESH:C536049|OMIM:610915																		owl:Class
MONDO:0008810	biolink:NamedThing	familial apolipoprotein C-II deficiency		mondoexuq1wtf	hyperlipoproteinemia, type 1B|C-II Anapolipoproteinemia|apolipoprotein C-II deficiency|familial apoC-II deficiency|Apoc2 deficiency|hyperlipoproteinemia, type IB											SCTID:33513003|DOID:0111418|UMLS:C1720779|ICD10:E78.3|OMIM:207750|UMLS:C0268199|Orphanet:309020																		owl:Class
MONDO:0006738	biolink:NamedThing	eccrine acrospiroma	A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.	mondoexuq1wtf	eccrine poroma|eccrine acrospiroma|clear-cell Hidradrenomas|Hidradrenomas, clear-cell|hidradenoma, solid-cystic|solid-cystic hidradenoma|nodular Hidradrenoma|nodular Hidradrenomas|acrospiromas|poroma|Hidradrenoma, nodular|acrospiroma, eccrine|Hidradrenomas, nodular|Hidradenomas, solid-cystic|clear-cell Hidradrenoma|poroma/acrospiroma|eccrine hidradenoma of skin|acrospiromas, eccrine|solid cystic hidradenoma|Hidradenomas|eccrine Acrospiromas|Hidradrenoma, clear-cell|solid-cystic Hidradenomas|hidradenoma|poroma (acrospiroma)|eccrine hidradenoma|clear cell Hidradrenoma											ONCOTREE:PORO|EFO:1000912|SCTID:400099008|MESH:D018250|DOID:5442|GARD:0005726|NCIT:C27273																		owl:Class
MONDO:0021489	biolink:NamedThing	benign neoplasm of sweat gland	A benign neoplasm that involves the sweat gland.	mondoexuq1wtf	benign sweat gland neoplasm|benign sweat gland tumor|sweat gland neoplasm, benign|benign tumor of sweat gland|benign tumor of the sweat gland|benign neoplasm of the sweat gland|sweat gland benign neoplasm											NCIT:C4879|UMLS:C0684354|SCTID:92422009																		owl:Class
MONDO:0006577	biolink:NamedThing	maxillary sinus cholesteatoma	A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.	mondoexuq1wtf	maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus											DOID:867|NCIT:C35868|EFO:1000731|UMLS:C1334644																		owl:Class
MONDO:0000969	biolink:NamedThing	pleural lipoma	A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.	mondoexuq1wtf	lipoma of pleura|lipoma of the pleura|pleural lipoma|pleura lipoma											DOID:10195|SCTID:2460001000004103|NCIT:C6644|UMLS:C1335434																		owl:Class
MONDO:0006784	biolink:NamedThing	hemorrhagic disease of newborn	A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.	mondoexuq1wtf	hemorrhagic disease of newborn|vitamin K deficiency bleeding in newborn											MESH:D006475|ICD10:P53|MedDRA:10019601|SCTID:12546009|EFO:1000964|ICD9:776.0|NCIT:C111857																		owl:Class
MONDO:0001531	biolink:NamedThing	blood coagulation disease	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.	mondoexuq1wtf	postpartum coagulation defect|postpartum coagulation defect with delivery|coagulation disorder, blood|coagulopathy|disorder, blood coagulation|coagulation disorder|coagulation defect|blood coagulation disorder|disorders, blood coagulation|coagulation disorders, blood											MESH:D001778|NCIT:C2902|ICD9:287.8|ICD10:D68.9|DOID:1247|ICD9:286|COHD:432585|SCTID:64779008|ICD9:286.9																		owl:Class
MONDO:0005025	biolink:NamedThing	endocarditis	Inflammation of the endocardium.	mondoexuq1wtf	inflammation of endocardium|endocardium inflammation|endocarditis|endocarditis (disease)		endocarditis (disease)									COHD:441589|ICD9:421.9|HP:0100584|ICD9:424.99|DOID:10314|EFO:0000465|NCIT:C34582|SCTID:56819008|ICD10:I33.9|MESH:D004696																		owl:Class
MONDO:0024636	biolink:NamedThing	inflammation of heart layer	An inflammatory disease involving a pathogenic inflammatory response in the heart layer.	mondoexuq1wtf	heart layer inflammation|carditis											ICD9:429.89|SCTID:399617002																		owl:Class
MONDO:0014702	biolink:NamedThing	autosomal recessive complex spastic paraplegia type 9B	Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	mondoexuq1wtf	spastic paraplegia 9B, autosomal recessive|autosomal recessive complex spastic paraplegia type 9B|ALDH18A1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 9B|SPG9B|AR-SPG9B|hereditary spastic paraplegia type 9B|hereditary spastic paraplegia 9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1					Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8						ICD10:G11.4|Orphanet:447760|DOID:0110825|UMLS:C4225272|OMIM:616586																		owl:Class
MONDO:0020062	biolink:NamedThing	chromosome X structural anomaly		mondoexuq1wtf												Orphanet:98159|ICD10:Q99.8																		owl:Class
MONDO:0013860	biolink:NamedThing	idiopathic membranous glomerulonephritis	Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.	mondoexuq1wtf	Extramembranous glomerulonephritis|glomerulonephritis, membranous|Idiopathic membranous glomerulopathy|MGN|idiopathic membranous nephropathy|membranous GN|membranous nephropathy, susceptibility to|MBNP|membranous nephropathy - Idiopathic											OMIM:614692|ICD10:N04.2|GARD:0009180|SCTID:722119002|UMLS:C0086445|Orphanet:97560|NCIT:C123060																		owl:Class
MONDO:0001613	biolink:NamedThing	vertebrobasilar insufficiency	Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.	mondoexuq1wtf	vertebrobasilar insufficiency|vertebrobasilar artery syndrome|vertebro-basilar insufficiency|vertebrobasilar arterial insufficiency											DOID:13003|COHD:376714|EFO:1001449|ICD9:435.3|UMLS:C0042568|ICD10:G45.0|MESH:D014715|SCTID:195199008																		owl:Class
MONDO:0011730	biolink:NamedThing	fumaric aciduria	Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.	mondoexuq1wtf	fumaric aciduria|fumarate hydratase deficiency|FMRD|fumarase deficiency											GARD:0006476|ICD9:282.3|ICD10:E88.8|SCTID:237983002|MESH:C538191|DOID:0111261|Orphanet:24|UMLS:C2936826|OMIM:606812																		owl:Class
MONDO:0021404	biolink:NamedThing	polyp of sphenoidal sinus	A polyp that involves the sphenoidal sinus.	mondoexuq1wtf	sphenoidal sinus polyp|polyp of the sphenoidal sinus|sphenoid sinus polyp|polyp of the sphenoid sinus|polyp of sphenoid sinus											SCTID:90685008|NCIT:C3933|ICD9:471.8|UMLS:C0264255																		owl:Class
MONDO:0010927	biolink:NamedThing	orofacial cleft 3		mondoexuq1wtf	orofacial cleft 3|cleft lip with or without cleft palate, nonsyndromic, 3|OFC3											OMIM:600757|MESH:C563448|UMLS:C1833369|DOID:0080397																		owl:Class
MONDO:0007336	biolink:NamedThing	isolated cleft palate	A cleft palate that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic cleft palate|dominant cleft palate|cleft palate|CPI|cleft palate, isolated											UMLS:CN234898|ICD10:Q35.5|ICD10:Q35.9|DOID:0110213|ICD10:Q35.7|OMIM:119540|GARD:0001896|ICD10:Q35.1|ICD10:Q35.3														https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate				owl:Class
MONDO:0012198	biolink:NamedThing	PCWH syndrome	Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.	mondoexuq1wtf	PCWH|WS4 plus|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|Waardenburg-Shah syndrome, neurologic variant|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|neurologic Waardenburg-Shah syndrome											Orphanet:163746|UMLS:C1836727|MESH:C563789|DOID:0090111|OMIM:609136|UMLS:CN239463|ICD10:E75.2																		owl:Class
MONDO:0015003	biolink:NamedThing	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		mondoexuq1wtf	DYTOABG|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|dystonia 29, childhood-onset|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG											OMIM:617282|Orphanet:508093|UMLS:C4310634																		owl:Class
MONDO:0014499	biolink:NamedThing	intellectual disability, autosomal recessive 46	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive type 46|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|mental retardation, autosomal recessive type 46|NDST1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 46|MRT46|intellectual disability, autosomal recessive 46											UMLS:C4015283|OMIM:616116																		owl:Class
MONDO:0002606	biolink:NamedThing	epithelioid type angiomyolipoma	An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.	mondoexuq1wtf												NCIT:C38151|DOID:3318|UMLS:C1333426																		owl:Class
MONDO:0002603	biolink:NamedThing	angiomyolipoma	A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.	mondoexuq1wtf	angiomyolipoma (morphologic abnormality)											GARD:0012024|NCIT:C3734|MESH:D018207|DOID:3314|ICDO:8860/0|UMLS:C0206633																		owl:Class
MONDO:0015565	biolink:NamedThing	cap polyposis	Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.	mondoexuq1wtf	polypoid prolapsing folds|inflammatory myoglandular polyps|Cap inflammatory polyposis|eroded polypoid hyperplasia											UMLS:C4303971|Orphanet:160148|SCTID:720604008|ICD10:D12.6																		owl:Class
MONDO:0003629	biolink:NamedThing	uterine corpus serous adenocarcinoma	A serous adenocarcinoma that involves the uterine corpus.	mondoexuq1wtf	uterine papillary serous carcinoma|body of uterus serous adenocarcinoma|uterine serous carcinoma/uterine papillary serous carcinoma											DOID:5750|ONCOTREE:USC|UMLS:C1336921																		owl:Class
MONDO:0007930	biolink:NamedThing	Bernard-Soulier syndrome, type A2, autosomal dominant	A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.	mondoexuq1wtf	BSSA2|Bernard-Soulier syndrome, type A2, autosomal dominant|Bernard-Soulier syndrome type A2										MONDO:0000915	OMIM:153670|DOID:0111059|UMLS:C3277076																		owl:Class
MONDO:0009276	biolink:NamedThing	Bernard-Soulier syndrome	Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.	mondoexuq1wtf	Bernard - Soulier thrombopathy|Von Willebrand Factor receptor deficiency|Platelet glycoprotein Ib deficiency|Bernard-Soulier syndrome, type A1|giant platelet disease|Bernard-Soulier syndrome, type C|giant platelet syndrome|Bernard Soulier syndrome|bleeding disorder, Platelet-type, 1|Bernard-Soulier syndrome, type B|Bernard-Soulier syndrome|Hemorrhagiparous thrombocytic dystrophy|Platelet glycoprotein 1b, deficiency of|macrothrombocytopenia, familial Bernard-Soulier type|hemorrhagic dystrophic thrombocytopenia|glycoprotein Ib, Platelet, deficiency of|thrombopathy, Bernard-Soulier|deficiency of platelet glycoprotein 1b|BSS											DOID:2217|MedDRA:10057473|Orphanet:274|GARD:0002470|MESH:D001606|UMLS:C0005129|SCTID:234478007|ICD10:D69.1|NCIT:C84595|OMIM:231200																		owl:Class
MONDO:0008752	biolink:NamedThing	Alexander disease	Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.	mondoexuq1wtf	AxD|ALXDRD|megalencephaly in infancy accompanied by progressive spasticity and dementia|Alexander's disease|alexanders leukodystrophy|Alexander disease											MESH:D038261|NCIT:C84545|OMIM:203450|UMLS:C0270726|GARD:0005774|SCTID:81854007|ICD10:E75.2|DOID:4252|Orphanet:58														https://rarediseases.info.nih.gov/diseases/5774/alexander-disease				owl:Class
MONDO:0017167	biolink:NamedThing	malignant epithelial tumor of salivary glands		mondoexuq1wtf	malignant epithelial tumor of the salivary glands											ICD10:C08.8|Orphanet:276145|ICD10:C08.0|UMLS:CN202591|ICD10:C07|ICD10:C08.1																		owl:Class
MONDO:0060711	biolink:NamedThing	Jaberi-Elahi syndrome		mondoexuq1wtf	JABELS|Jaberi-Elahi syndrome											OMIM:617988|UMLS:CN244943																		owl:Class
MONDO:0002542	biolink:NamedThing	spinal cord glioma	A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.	mondoexuq1wtf	glial tumor of spinal cord|glial neoplasm spinal cord|spinal cord malignant glioma|spinal cord glial neoplasm|malignant glioma of spinal cord|glioma of spinal cord|spinal cord glioma|spinal cord glial tumor											NCIT:C4534|DOID:3185|SCTID:254946004|UMLS:C2937245																		owl:Class
MONDO:0022821	biolink:NamedThing	congenital benign spinal muscular atrophy dominant		mondoexuq1wtf												GARD:0001474														https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant				owl:Class
MONDO:0017416	biolink:NamedThing	postpoliomyelitis syndrome	Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.	mondoexuq1wtf	post-poliomyelitic syndrome|postpoliomyelitis syndrome|post-polio muscular atrophy|post polio syndrome|postpolio syndrome|postpoliomyelitis sequelae|polio late effects|postpolio sequelae|post-polio sequelae|postpoliomyelitic syndrome											GARD:0004454|EFO:0007454|Orphanet:2942|DOID:4952|ICD10:G14|SCTID:31097004|MESH:D016262|UMLS:C0080040																		owl:Class
MONDO:0004673	biolink:NamedThing	lower lip cancer	A malignant neoplasm involving the lower lip.	mondoexuq1wtf	malignant neoplasm of lower lip|malignant lower lip neoplasm|lower lip cancer|cancer of lower lip											UMLS:C0432520|ICD9:140.1|SCTID:363373004|DOID:8883|ICD10:C00.1																		owl:Class
MONDO:0015767	biolink:NamedThing	trisomy 4p	Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.	mondoexuq1wtf	trisomy type 4p|trisomy of the short arm of chromosome 4|Duplication 4p|partial trisomy 4p|4p duplication|chromosome 4p duplication|4p trisomy|Duplication of the short arm of chromosome 4											MESH:C537643|ICD10:Q92.2|GARD:0006091|Orphanet:1738																		owl:Class
MONDO:0015111	biolink:NamedThing	gastroesophageal disease		mondoexuq1wtf												UMLS:CN197468|Orphanet:101936														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0009742	biolink:NamedThing	neuroectodermal melanolysosomal disease	Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.	mondoexuq1wtf	neuroectodermal melanolysosomal disease|Elejalde disease|ELEJALDE disease											UMLS:C1860157|OMIM:256710|MESH:C536203|SCTID:724091002|ICD10:L81.4|Orphanet:33445																		owl:Class
MONDO:0020075	biolink:NamedThing	genetic non-syndromic obesity		mondoexuq1wtf	monogenic obesity due to a leptin-melanocortin pathway anomaly|genetic isolated obesity|genetic non-syndromic obesity|monogenic isolated obesity											Orphanet:98267																		owl:Class
MONDO:0018426	biolink:NamedThing	AXIN2-related attenuated familial adenomatous polyposis		mondoexuq1wtf	AXIN2-related AFAP|AXIN2-related attenuated familial polyposis coli|AXIN2-related attenuated FAP											UMLS:CN226139|ICD10:D12.6|Orphanet:401911																		owl:Class
MONDO:0016362	biolink:NamedThing	attenuated familial adenomatous polyposis	Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.	mondoexuq1wtf	AAPC|attenuated adenomatous polyposis coli|attenuated familial adenomatous polyposis|mild form of FAP|HFAS|attenuated familial polyposis coli|hereditary flat adenoma syndrome|AFAP|attenuated FAP											SCTID:715866009|NCIT:C6729|GARD:0008532|MESH:C538265|ICD10:D12.6|Orphanet:220460|UMLS:C2674616																		owl:Class
MONDO:0009013	biolink:NamedThing	convulsive disorder, familial, with prenatal or early onset		mondoexuq1wtf	convulsive disorder, familial, with prenatal or early onset											UMLS:C1857575|OMIM:217200|MESH:C565678																		owl:Class
MONDO:0003778	biolink:NamedThing	primary immunodeficiency disease	A disorder in which the immune system is unable to mount an adequate immune response.	mondoexuq1wtf	deficiency syndrome, immunologic|syndrome, antibody deficiency|antibody deficiency syndrome|syndrome, immunologic deficiency|immunological deficiency syndrome|syndromes, immunological deficiency|deficiency syndromes, immunologic|deficiency syndromes, immunological|primary immunodeficiency|syndromes, antibody deficiency|deficiency syndromes, antibody|immune deficiency disorder|syndromes, immunologic deficiency|deficiency syndrome, immunological|syndrome, immunological deficiency|immunological deficiency syndromes|antibody deficiency syndromes|immunologic deficiency syndrome|hypoimmunity|deficiency syndrome, antibody|immunodeficiency syndrome											UMLS:C0398686|Orphanet:101997|ICD9:279.3|MESH:D007153|UMLS:C0021051|KEGG:05340|DOID:612|SCTID:58606001|ICD10:D84.9																		owl:Class
MONDO:0013423	biolink:NamedThing	immunodeficiency due to MASP-2 deficiency	Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.	mondoexuq1wtf	lectin complement activation pathway, defect in, 2|MASP2 deficiency											OMIM:613791|ICD10:D84.1|UMLS:C3151085|Orphanet:331187|MESH:C565360																		owl:Class
MONDO:0044209	biolink:NamedThing	disorder of lectin complement activation pathway	A disease that has its basis in the disruption of complement activation, lectin pathway.	mondoexuq1wtf	complement activation, lectin pathway disease|disorder of complement activation, lectin pathway											OMIMPS:614372																		owl:Class
MONDO:0014977	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2Z	An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 2Z|limb-girdle muscular dystrophy type 2Z|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z|POGLUT1 autosomal recessive limb-girdle muscular dystrophy										MONDO:0018817	UMLS:C4310660|OMIM:617232|UMLS:CN776834|Orphanet:480682|NCIT:C142082																		owl:Class
MONDO:0009659	biolink:NamedThing	mucopolysaccharidosis type 4A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.	mondoexuq1wtf	Morquio disease type A|Morquio A disease|GALNS deficiency|galactosamine-6-sulfatase deficiency|N-acetylgalactosamine-6-sulfate sulfatase deficiency|Morquio syndrome A|mucopolysaccharidosis type IVA|mucopolysaccharidosis, type 4A|MPS4A|mucopolysaccharidosis, type IVA|MPSIVA|MPS IV A|MPS 4A|MPS IVA											GARD:0003785|ICD10:E76.2|Orphanet:309297|DOID:0111391|SCTID:7259005|OMIM:253000|NCIT:C84901																		owl:Class
MONDO:0018938	biolink:NamedThing	mucopolysaccharidosis type 4	Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.	mondoexuq1wtf	mucopolysaccharidosis IV|MPS IV - Morquio syndrome A|Osteochondrodystrophy|MPSIV|MPS IV - Morquio syndrome B|Morquio syndrome|chondroosteodystrophy|deficiency of chondroitinsulphatase|mucopolysaccharidosis type IV|mucopolysaccharidosis, MPS-IV-A|MPS4|Morquio syndrome A|Morquio disease|galactosamine-6-sulfatase deficiency|Morquio A disease|deficiency of N-acetylgalactosamine-6-sulphatase|mucopolysaccharidosis type IVB|mucopolysaccharidosis type 4|mucopolysaccharidosis type IVA|mucopolysaccharidosis, MPS-IV											SCTID:378007|Orphanet:582|GARD:0012562|DOID:12804|ICD10:E76.2|ICD10:E76.219|ICD10:E76.210|UMLS:C0026707|NCIT:C61263|MedDRA:10028095																		owl:Class
MONDO:0012986	biolink:NamedThing	bilateral parasagittal parieto-occipital polymicrogyria		mondoexuq1wtf	polymicrogyria, bilateral temporooccipital|BTOP											MESH:C567201|Orphanet:208441|GARD:0010785|UMLS:C2675191|OMIM:612691|ICD10:Q04.3														https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria				owl:Class
MONDO:0017091	biolink:NamedThing	bilateral polymicrogyria	Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	mondoexuq1wtf												ICD10:Q04.3|SCTID:765757003|Orphanet:268940																		owl:Class
MONDO:0008214	biolink:NamedThing	Pelger-Huet anomaly	An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.	mondoexuq1wtf	Pelger-Huet anomaly|Pelger Huet anomaly|PHA|Pelger-Huet nuclear anomaly|ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities											EFO:1001093|OMIM:169400|SCTID:85559002|DOID:9631|MESH:D010381|UMLS:C0030779|NCIT:C85002|MedDRA:10029377|GARD:0009148																		owl:Class
MONDO:0013270	biolink:NamedThing	Rett syndrome, congenital variant		mondoexuq1wtf	Rett syndrome, congenital variant											UMLS:C3150705|OMIM:613454																		owl:Class
MONDO:0030028	biolink:NamedThing	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline		mondoexuq1wtf	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE|CONATOC|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline											OMIM:618868																		owl:Class
MONDO:0007373	biolink:NamedThing	corneal degeneration, ribbonlike, with deafness		mondoexuq1wtf	band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness											OMIM:121450|MESH:C565157|UMLS:C1852556																		owl:Class
MONDO:0017182	biolink:NamedThing	familial hyperinsulinism	An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	Nesidioblastosis|hyperinsulinemic hypoglycemia|Neonatal hyperinsulinism|familial hyperinsulinemic hypoglycemia|FHI|hereditary hyperinsulinism (disease)|hyperinsulinemia of infancy|congenital hyperinsulinism|HHI											ICD10:E16.1|NCIT:C131425|Orphanet:276525																		owl:Class
MONDO:0014377	biolink:NamedThing	developmental and epileptic encephalopathy, 24	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.	mondoexuq1wtf	EIEE24|early infantile epileptic encephalopathy caused by mutation in HCN1|DEE24|epileptic encephalopathy, early infantile, 24|HCN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 24											DOID:0080429|OMIM:615871|UMLS:C4014531																		owl:Class
MONDO:0007967	biolink:NamedThing	melanoma and neural system tumor syndrome	Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).	mondoexuq1wtf	melanoma and neural system tumor syndrome|melanoma astrocytoma syndrome|melanoma-astrocytoma syndrome											MESH:C536149|OMIM:155755|Orphanet:252206|DOID:0111511|GARD:0008468|SCTID:717968005|UMLS:C1835042																		owl:Class
MONDO:0010193	biolink:NamedThing	Weaver syndrome	Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.	mondoexuq1wtf	overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|Weaver-like syndrome|Weaver Williams syndrome|Weaver like syndrome|EZH2 related overgrowth|Weaver Smith syndrome|Weaver-Smith syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|WVS|Weaver syndrome|WEAVER syndrome|camptodactyly - overgrowth - unusual facies|WEAVER-like syndrome|camptodactyly-overgrowth-unusual facies syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate											NCIT:C125599|DOID:14731|OMIM:277590|ICD10:Q87.3|GARD:0007878|MESH:C536687|Orphanet:3447|UMLS:C0265210|UMLS:CN036342|GTR:AN0102080|GTR:AN0102079|ICD9:759.89|SCTID:63119004																		owl:Class
MONDO:0020302	biolink:NamedThing	Angelman syndrome due to maternal 15q11q13 deletion		mondoexuq1wtf	Angelman syndrome due to maternal monosomy 15q11q13											UMLS:CN207116|ICD10:Q93.5|Orphanet:98794																		owl:Class
MONDO:0005097	biolink:NamedThing	squamous cell lung carcinoma	A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.	mondoexuq1wtf	squamous cell lung carcinoma|epidermoid cell lung carcinoma|squamous cell carcinoma of lung|epidermoid cell carcinoma of lung|lung squamous cell carcinoma|squamous cell carcinoma of the lung|squamous cell lung cancer|epidermoid cell carcinoma of the lung					In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC						UMLS:C0149782|DOID:3907|EFO:0000708|ICD9:162.9|SCTID:254634000|ONCOTREE:LUSC|NCIT:C3493																		owl:Class
MONDO:0011407	biolink:NamedThing	facial paresis, hereditary congenital, 2		mondoexuq1wtf	Mobius syndrome 3, formerly|facial paresis, hereditary congenital, 2|Mobius syndrome 3|Moebius syndrome 3|Moebius syndrome 3, formerly|HCFP2											UMLS:C1858717|OMIM:604185																		owl:Class
MONDO:0017627	biolink:NamedThing	congenital hereditary facial paralysis-variable hearing loss syndrome	Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	mondoexuq1wtf	congenital hereditary facial paralysis with variable deafness|congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable hearing loss|congenital hereditary facial palsy with variable deafness											Orphanet:306530|ICD10:Q87.0|SCTID:722389002																		owl:Class
MONDO:0001978	biolink:NamedThing	regional ureteric cancer	Carcinoma of the ureter without spread to any other region.	mondoexuq1wtf	regional ureter carcinoma|regional ureteric carcinoma|regional malignant ureteral tumor											DOID:14491|NCIT:C9356|UMLS:C0854921																		owl:Class
MONDO:0006481	biolink:NamedThing	ureter carcinoma	A carcinoma that arises from epithelial cells of the ureter.	mondoexuq1wtf	ureter cancer|carcinoma of ureter|carcinoma of the ureter|ureteral carcinoma|ureter carcinoma											SCTID:448864006|UMLS:C0600079|DOID:4939|EFO:1000609|NCIT:C8993																		owl:Class
MONDO:0009183	biolink:NamedThing	junctional epidermolysis bullosa with pyloric atresia	Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.	mondoexuq1wtf	junctional epidermolysis bullosa-pyloric atresia syndrome|EB-Pa-ACC|epidermolysis bullosa with pyloric atresia|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia|aplasia cutis congenita with gastrointestinal atresia|Carmi syndrome|epidermolysis bullosa junctionalis with pyloric atresia|junctional epidermolysis bullosa with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|JEB-PA|JEB-Pa											ICD10:Q81.8|UMLS:C1856934|OMIM:226730|GARD:0009694|DOID:0060733|Orphanet:79403|MESH:C535377														https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia				owl:Class
MONDO:0017612	biolink:NamedThing	junctional epidermolysis bullosa	Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.	mondoexuq1wtf	EBJ|JEB|epidermolysis bullosa hereditaria letalis|epidermolysis bullosa, junctional|congenital junctional epidermolysis bullosa|epidermolysis bullosa atrophicans											SCTID:79855003|NCIT:C90598|MESH:D016109|GARD:0002152|UMLS:C0079301|Orphanet:305|DOID:3209														https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa				owl:Class
MONDO:0018121	biolink:NamedThing	mitochondrial DNA maintenance syndrome	An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.	mondoexuq1wtf	rare inborn error of mitochondrial genome maintenance|inborn error of mitochondrial genome maintenance|mtDNA maintenance syndrome|inborn mitochondrial genome maintenance disorder											Orphanet:352456|UMLS:CN204491																		owl:Class
MONDO:0005798	biolink:NamedThing	HIV-associated nephropathy	Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.	mondoexuq1wtf	AIDS-associated nephropathy|HIVAN|HIV nephropathy|AIDS-related nephropathy											MESH:D016263|EFO:0007313|NCIT:C26918|UMLS:C0078911																		owl:Class
MONDO:0100340	biolink:NamedThing	Friedreich ataxia 1	Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.	mondoexuq1wtf	Friedreich ataxia type 1|Friedreich ataxia 1|FRDA1							http://orcid.org/0000-0001-5208-3432				OMIM:229300|UMLS:C1856689|MESH:C565561																		owl:Class
MONDO:0060589	biolink:NamedThing	facial palsy, congenital, with ptosis and velopharyngeal dysfunction		mondoexuq1wtf	facial palsy, congenital, with ptosis and velopharyngeal dysfunction|FPVEPD											OMIM:617732|UMLS:C4540277																		owl:Class
MONDO:0002298	biolink:NamedThing	cutaneous glomangioma	A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.	mondoexuq1wtf	cutaneous glomangioma|skin glomangioma|glomangioma of the skin|zone of skin glomangioma|glomangioma of skin											NCIT:C6750|UMLS:C1275226|SCTID:403970001|DOID:2435																		owl:Class
MONDO:0002299	biolink:NamedThing	glomangioma	A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.	mondoexuq1wtf	glomangioma											NCIT:C4222|ICDO:8712/0|UMLS:C0334421|DOID:2436																		owl:Class
MONDO:0015751	biolink:NamedThing	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	mondoexuq1wtf	familial scaphocephaly-radioulnar synostosis syndrome|Berant syndrome|Capra-DeMarco syndrome											Orphanet:171839|SCTID:720815000|ICD10:Q87.8|UMLS:C3267187																		owl:Class
MONDO:0011134	biolink:NamedThing	curry-Jones syndrome	Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	mondoexuq1wtf	CRJS|curry-Jones syndrome|corpus callosum agenesis polysyndactyly|curry-JONES syndrome|corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|curry Jones syndrome											MESH:C536735|OMIM:601707|ICD10:Q87.0|Orphanet:1553|UMLS:C0795915|GARD:0005584|SCTID:720819006														https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome				owl:Class
MONDO:0003555	biolink:NamedThing	Bartholin gland adenosquamous carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.	mondoexuq1wtf	Bartholin's gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma											UMLS:C1511050|NCIT:C40296|DOID:5630																		owl:Class
MONDO:0004053	biolink:NamedThing	bartholin gland squamous cell carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.	mondoexuq1wtf	Bartholin's gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma|bartholin gland squamous cell carcinoma											UMLS:C1511052|NCIT:C40293|DOID:6961|EFO:1000104																		owl:Class
MONDO:0000703	biolink:NamedThing	collagenous colitis	A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	mondoexuq1wtf												NCIT:C27021|MESH:D046729|UMLS:C0238067|Orphanet:36205|ICD9:558.9|ICD10:K52.831|GARD:0006135|EFO:1001293|ICD10:K52.89|MedDRA:10048928|SCTID:19311003|DOID:0060183														https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis				owl:Class
MONDO:0011641	biolink:NamedThing	baculum, congenital absence of		mondoexuq1wtf	baculum, congenital absence of|Os penis, congenital absence of											OMIM:606174																		owl:Class
MONDO:0016424	biolink:NamedThing	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	mondoexuq1wtf	progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome					Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this						UMLS:CN201381|Orphanet:228012																		owl:Class
MONDO:0016329	biolink:NamedThing	familial syndrome associated with hypertrophic cardiomyopathy		mondoexuq1wtf	syndrome associated with hypertrophic cardiomyopathy											UMLS:CN201161|Orphanet:217595														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0004703	biolink:NamedThing	bladder carcinoma in situ	Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	mondoexuq1wtf	urinary bladder flat carcinoma in situ|stage 0is carcinoma of bladder|stage 0is carcinoma of the bladder|carcinoma in situ of the urinary bladder|stage 0is carcinoma of urinary bladder|bladder Ca in situ|stage 0 urinary bladder carcinoma|stage 0is carcinoma of the urinary bladder|flat carcinoma in situ of the bladder|stage 0is bladder urothelial carcinoma aJCC v6 and v7|urinary bladder flat CIS|urinary bladder carcinoma in situ|bladder flat carcinoma in situ|stage 0is bladder urothelial carcinoma aJCC v6|high grade bladder Intraurothelial neoplasia|stage 0is bladder urothelial cancer|flat carcinoma in situ of the urinary bladder|stage 0is bladder urothelial carcinoma aJCC v7|flat CIS of the urinary bladder|stage 0is urinary bladder carcinoma|carcinoma in situ of bladder|stage 0is bladder cancer|stage 0is bladder carcinoma|urinary bladder in situ carcinoma|flat CIS of the bladder|carcinoma in situ of urinary bladder|bladder flat CIS|cancer in situ of urinary bladder|stage 0is bladder urothelial carcinoma											DOID:9053|ICD9:233.7|COHD:192855|UMLS:C0154091|SCTID:92546004|NCIT:C3644|ICD10:D09.0																		owl:Class
MONDO:0003930	biolink:NamedThing	non-invasive bladder urothelial carcinoma	Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	mondoexuq1wtf	stage 0 bladder urothelial carcinoma aJCC v6|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial carcinoma aJCC v6 and v7|stage 0 transitional cell carcinoma of bladder|stage 0 bladder urothelial cancer|non-invasive bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the bladder|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of urinary bladder|stage 0 urinary bladder transitional cell carcinoma|stage 0 transitional cell carcinoma of the urinary bladder											UMLS:C1336089|NCIT:C6188|DOID:6571																		owl:Class
MONDO:0006391	biolink:NamedThing	pyloric gland adenoma	A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.	mondoexuq1wtf	pyloric gland adenoma|pyloric gastric gland adenoma											NCIT:C43526|EFO:1000501|UMLS:C1709780																		owl:Class
MONDO:0003256	biolink:NamedThing	neurohypophysis granular cell tumor	A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)	mondoexuq1wtf	granular cell tumor of Neurohypophysis|granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of the posterior pituitary gland|neurohypophysis granular cell tumor|granular cell tumor of neurohypophysis|granular cell tumor of the neurohypophysis											NCIT:C7017|UMLS:C1333873|SCTID:699331002|EFO:1000285|ICDO:9582/0|DOID:5047																		owl:Class
MONDO:0006235	biolink:NamedThing	granular cell tumor	An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.	mondoexuq1wtf	granular cell nerve sheath tumor|granular cell tumor NOS (morphologic abnormality)|Abrikosov's tumor|Abrikosov’s tumor|granular cell myoblastoma|Abrikossoff's tumor|giant granulocellular Abrikosov's tumor|neoplasm of granular cell|granular cell schwannoma|Abrikossoff tumor|granular cell tumor|granular cell neoplasm|Abrikosoff's granulous cell tumor|granular cell tumor (morphologic abnormality)|malignant variant of Abrikosov's tumor|GCT|Abrikosoff's tumor					Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement						MESH:D016586|GARD:0009618|EFO:1000284|ICDO:9580/0|NCIT:C3474|UMLS:C0085167|MESH:C535558|DOID:2411|SCTID:404035005|ONCOTREE:GCT|ICD9:215.9														https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor				owl:Class
MONDO:0002612	biolink:NamedThing	frontal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)	mondoexuq1wtf	epilepsy of frontal lobe|frontal lobe epilepsy											SCTID:230394006|DOID:3331|MESH:D017034|UMLS:C0085541																		owl:Class
MONDO:0037253	biolink:NamedThing	ovarian thecoma	A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.	mondoexuq1wtf	theca cell neoplasm of ovary|theca cell tumor of ovary|ovarian thecoma|theca cell tumor of the ovary|ovarian theca cell tumor|thecoma of the ovary|theca cell neoplasm of the ovary|ovarian theca cell neoplasm|thecoma of ovary|ovary thecoma											NCIT:C66989|SCTID:254864005																		owl:Class
MONDO:0021132	biolink:NamedThing	tertiary hyperparathyroidism	An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.	mondoexuq1wtf	tertiary hyperparathyroidism											UMLS:C0271858|SCTID:78200003|ICD9:588.89|NCIT:C114821																		owl:Class
MONDO:0004060	biolink:NamedThing	peripheral epithelioid sarcoma	An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.	mondoexuq1wtf	distal-type epithelioid sarcoma|conventional epithelioid sarcoma											NCIT:C27473|DOID:6988|UMLS:C1333306																		owl:Class
MONDO:0017387	biolink:NamedThing	epithelioid sarcoma	An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).	mondoexuq1wtf	epithelioid sarcoma|epithelioid cell sarcoma|ES											Orphanet:293202|MedDRA:10015099|UMLS:C0205944|GARD:0010181|ICDO:8804/3|ICD10:C49.9|DOID:6193|NCIT:C3714|ONCOTREE:EPIS														https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma				owl:Class
MONDO:0015425	biolink:NamedThing	lethal recessive chondrodysplasia	Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome											SCTID:719404009|GARD:0001294|UMLS:C4304745|UMLS:CN199522|Orphanet:1423|ICD10:Q78.8														https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive				owl:Class
MONDO:0008911	biolink:NamedThing	cardiac lipidosis, familial		mondoexuq1wtf	cardiac lipidosis, familial											UMLS:C1859332|OMIM:212080|MESH:C565884																		owl:Class
MONDO:0005778	biolink:NamedThing	haemonchiasis	Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.	mondoexuq1wtf												UMLS:C0018477|DOID:3332|MESH:D006188|EFO:0007293																		owl:Class
MONDO:0014909	biolink:NamedThing	primary ciliary dyskinesia 34	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, type 34|CILD34|ciliary dyskinesia, primary, 34|primary ciliary dyskinesia 34 without situs inversus|primary ciliary dyskinesia caused by mutation in DNAJB13|primary ciliary dyskinesia type 34|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, 34, without situs inversus											UMLS:C4310722|OMIM:617091|DOID:0110610																		owl:Class
MONDO:0004436	biolink:NamedThing	ovarian myxoid liposarcoma	A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.	mondoexuq1wtf	ovarian myxoid liposarcoma|ovary myxoid liposarcoma|myxoid liposarcoma of the ovary|myxoid liposarcoma of ovary											UMLS:C1335170|NCIT:C5235|DOID:8023																		owl:Class
MONDO:0013280	biolink:NamedThing	myxoid liposarcoma	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.	mondoexuq1wtf	myxoid liposarcoma|myxoid liposarcoma (morphologic abnormality)|myxoid/round cell liposarcoma|mixed-type liposarcoma|Myxoliposarcoma										MONDO:0003597	DOID:5709|ICDO:8852/3|ICD9:171.9|EFO:0000613|GARD:0007157|NCIT:C27781|SCTID:404069006|MESH:D018208|OMIM:613488|DOID:5363																		owl:Class
MONDO:0019008	biolink:NamedThing	benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).	mondoexuq1wtf	Summerskill-Walshe-Tygstrup syndrome|cholestasis, benign recurrent intrahepatic|Bric											ICD10:K83.1|UMLS:C0149841|DOID:0070230|Orphanet:65682|SCTID:31155007|OMIMPS:243300|GARD:0012185														https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis				owl:Class
MONDO:0008009	biolink:NamedThing	monilethrix	Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.	mondoexuq1wtf	nodose hair|MNLIX|moniliform hair syndrome|monilethrix											MESH:D056734|Orphanet:573|NCIT:C84894|GARD:0000093|DOID:0050472|ICD10:Q84.1|OMIM:158000|SCTID:69488000|UMLS:C0546966														https://rarediseases.info.nih.gov/diseases/93/monilethrix				owl:Class
MONDO:0019281	biolink:NamedThing	isolated genetic hair shaft abnormality		mondoexuq1wtf	isolated hair shaft abnormality											Orphanet:79366																		owl:Class
MONDO:0016419	biolink:NamedThing	hereditary breast carcinoma	Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.	mondoexuq1wtf	breast cancer, familial Male|breast cancer, familial|familial cancer of the breast|familial cancer of breast|familial breast carcinoma|hereditary breast carcinoma|hereditary breast cancer|familial breast cancer					Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84						ICD10:C50.1|ICD10:C50.2|ICD10:C50.8|ICD10:C50.6|SCTID:254843006|ICD10:C50.4|OMIM:114480|MESH:C562840|Orphanet:227535|ICD10:C50.3|UMLS:C0346153|NCIT:C4503|ICD10:C50.0|ICD10:C50.5																		owl:Class
MONDO:0004989	biolink:NamedThing	breast carcinoma	A carcinoma that arises from epithelial cells of the breast	mondoexuq1wtf	carcinoma of breast|cancer of the breast|cancer of breast|breast cancer, NOS|breast cancer|cancer, breast|carcinoma of the breast|breast carcinoma|mammary carcinoma											EFO:0000305|DOID:3459|UMLS:C0678222|NCIT:C4872|SCTID:254838004																		owl:Class
MONDO:0008678	biolink:NamedThing	Williams syndrome	Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)	mondoexuq1wtf	Fanconi Schlesinger syndrome|deletion 7q11.23|WBS|Williams-Beuren syndrome|Williams syndrome|Williams-Beuren syndrome (WBS)|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|monosomy 7q11.23|WMS											MESH:D018980|SCTID:63247009|ICD10:Q87.8|OMIM:194050|Orphanet:904|UMLS:C0175702|MedDRA:10049644|NCIT:C85232|ICD9:759.89|GARD:0007891|DOID:1928																		owl:Class
MONDO:0016543	biolink:NamedThing	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.	mondoexuq1wtf	hyperphenylalaninemia due to tetrahydrobiopterin deficiency|hyperphenylalaninemia due to BH4 deficiency|non-phenylketonuric hyperphenylalaninemia|hyperphenylalaninemia											UMLS:C0751435|ICD10:E70.1|Orphanet:238583|DC:0000202|GARD:0007751|SCTID:68528007																		owl:Class
MONDO:0014779	biolink:NamedThing	Wilms tumor 6	Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.	mondoexuq1wtf	Wilms tumor 6; WT6|WT6|Wilms tumor 6|Wilms tumor type 6											OMIM:616806																		owl:Class
MONDO:0004995	biolink:NamedThing	cardiovascular disease	A disease involving the cardiovascular system.	mondoexuq1wtf	circulatory system disease|cardiovascular system disease or disorder|disease or disorder of cardiovascular system|disorder of cardiovascular system|disease of cardiovascular system|disease of subdivision of hemolymphoid system|cardiovascular disease|cardiovascular system disease|cardiovascular disease (CVD)|cardiovascular disorder											MESH:D002318|ICD9:429.89|SCTID:49601007|UMLS:C0007222|ICD9:459.9|ICD9:459.89|ICD9:420-429.99|ICD9:429.8|ICD10:I00.I99|NCIT:C2931|DOID:1287|ICD9:429.2|ICD9:390-459.99|ICD9:429.81|ICD9:424|ICD9:429|ICD9:429.7|ICD9:423|EFO:0000319|ICD9:423.8																		owl:Class
MONDO:0010711	biolink:NamedThing	TARP syndrome	A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.	mondoexuq1wtf	Pierre Robin syndrome-congenital heart defect-talipes syndrome|tarp syndrome|Pierre Robin syndrome - congenital heart defect - talipes|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava|Pierre Robin syndrome with congenital heart malformation and clubfoot|TARPS|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome											GARD:0010089|OMIM:311900|Orphanet:2886|ICD10:Q87.8|UMLS:C1839463|DOID:0111780|MESH:C536942|SCTID:725911008														https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome				owl:Class
MONDO:0002025	biolink:NamedThing	psychiatric disorder	A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.	mondoexuq1wtf	Psychiatric disease|mental dysfunction|mental disorder|mental illness|disease of mental health|Psychiatric disorder											NCIT:C2893|ICD10:F99-F99|MESH:D001523|ICD10:F99|MFOMD:0000004|DOID:150																		owl:Class
MONDO:0017294	biolink:NamedThing	glycerol kinase deficiency, infantile form	Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.	mondoexuq1wtf												ICD10:E74.8|Orphanet:284408																		owl:Class
MONDO:0010613	biolink:NamedThing	inborn glycerol kinase deficiency	An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.	mondoexuq1wtf	glycerol kinase deficiency|inborn glycerol kinase activity disorder|inborn error of glycerol kinase activity|GKD|GK deficiency|hyperglycerolemia|rare inborn error of glycerol kinase activity|GK1 deficiency											DOID:0060363|OMIM:307030|Orphanet:308993|SCTID:124322002																		owl:Class
MONDO:0021357	biolink:NamedThing	tumor of salivary gland	A neoplasm (disease) that involves the saliva-secreting gland.	mondoexuq1wtf	neoplasm of the salivary gland|neoplasm of salivary gland|saliva-secreting gland neoplasm|tumor of the salivary gland|tumor of saliva-secreting gland|saliva-secreting gland tumor|salivary gland neoplasm|neoplasm of saliva-secreting gland|saliva-secreting gland neoplasm (disease)|salivary gland tumor											SCTID:235132004|EFO:0003826|NCIT:C3361																		owl:Class
MONDO:0000618	biolink:NamedThing	Her2-receptor negative breast cancer		mondoexuq1wtf						Editor note: check why not in NCIT; note also that triple-negative should be classified here						DOID:0060080																		owl:Class
MONDO:0006116	biolink:NamedThing	breast carcinoma by gene expression profile	A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.	mondoexuq1wtf	breast carcinoma by gene expression profile											NCIT:C53553|UMLS:C3642344|EFO:1000143																		owl:Class
MONDO:0002605	biolink:NamedThing	hepatic angiomyolipoma	An angiomyolipoma arising from the liver.	mondoexuq1wtf	liver PEComa|liver angiomyolipoma											DOID:3317|UMLS:C1333962|NCIT:C27485																		owl:Class
MONDO:0000963	biolink:NamedThing	esophageal lipoma	A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.	mondoexuq1wtf	lipoma of the esophagus|esophageal lipoma|esophagus lipoma|lipoma of esophagus											DOID:10187|UMLS:C1333455|NCIT:C5701																		owl:Class
MONDO:0006455	biolink:NamedThing	thymic undifferentiated carcinoma	A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.	mondoexuq1wtf	thymic undifferentiated carcinoma											NCIT:C35718|EFO:1000580|UMLS:C1336865																		owl:Class
MONDO:0018549	biolink:NamedThing	late-onset scapuloperoneal muscular dystrophy with hyaline bodies		mondoexuq1wtf	late-onset SPMD with hyaline bodies|late-onset scapuloperoneal syndrome, myopathic type											UMLS:CN237548|Orphanet:431263																		owl:Class
MONDO:0004085	biolink:NamedThing	choroid epithelioid cell melanoma	A epithelioid cell melanoma that involves the optic choroid.	mondoexuq1wtf	epithelioid cell melanoma of choroid|choroidal epithelioid cell melanoma|epithelioid cell melanoma of optic choroid|epithelioid cell melanoma of the choroid|choroid epithelioid cell melanoma|optic choroid epithelioid cell melanoma											DOID:7041|NCIT:C6102|UMLS:C1333024																		owl:Class
MONDO:0006200	biolink:NamedThing	epithelioid cell uveal melanoma	A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.	mondoexuq1wtf	uveal epithelioid cell melanoma|uvea epithelioid cell melanoma|epithelioid cell melanoma of uvea|epithelioid cell uveal melanoma											EFO:1000244|NCIT:C35780|UMLS:C1333422|DOID:7040																		owl:Class
MONDO:0020173	biolink:NamedThing	benign tumor of palpebral epidermis	A benign neoplasm that involves the skin of eyelid.	mondoexuq1wtf	skin of eyelid benign neoplasm											Orphanet:98582|UMLS:CN207034																		owl:Class
MONDO:0020172	biolink:NamedThing	palpebral epidermal tumor	A neoplasm (disease) that involves the skin of eyelid.	mondoexuq1wtf	skin of eyelid tumor|skin of eyelid neoplasm|neoplasm of skin of eyelid|skin of eyelid neoplasm (disease)|tumor of skin of eyelid											Orphanet:98581|SCTID:126499002|UMLS:CN207033																		owl:Class
MONDO:0019168	biolink:NamedThing	pyomyositis	Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.	mondoexuq1wtf	tropical pyomyositis|myositis purulenta tropica|suppurative myositis|myositis tropicans|PM											GARD:0004614|Orphanet:764|UMLS:C1704275|MESH:D052880|UMLS:C0041188|ICD9:040.81|NCIT:C128382|ICD10:M60.0|EFO:1001409|MedDRA:10037652|DOID:876|SCTID:65110003														https://rarediseases.info.nih.gov/diseases/4614/pyomyositis				owl:Class
MONDO:0005180	biolink:NamedThing	Parkinson disease	A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.	mondoexuq1wtf	paralysis agitans|Parkinson's disease											NCIT:C26845|NIFSTD:birnlex_2098|COHD:381270|ICD9:332.0|ICD10:G20|UMLS:C0030567|OMIMPS:168600|DOID:14330|KEGG:05012|SCTID:49049000|ICD9:332|EFO:0002508|MESH:D010300																		owl:Class
MONDO:0015504	biolink:NamedThing	larynx anomaly		mondoexuq1wtf												Orphanet:156249|ICD10:Q31.9|ICD10:Q31.5|ICD10:Q31.8|ICD10:Q31.1|ICD10:Q31.0|ICD10:Q31.3																		owl:Class
MONDO:0009933	biolink:NamedThing	congenital pulmonary lymphangiectasia	Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.	mondoexuq1wtf	lymphangiomatosis pulmonary|lymphangiomatosis, pulmonary|CPL|lymphangiectasia, pulmonary, congenital|pulmonary lymphangiomatosis|lymphangiectasia pulmonary congenital|congenital pulmonary lymphangiectasis|pulmonary cystic lymphangiectasis											GARD:0009900|OMIM:265300|UMLS:C1849554|ICD10:Q33.8|SCTID:45142002|NCIT:C99034|MESH:C537727|Orphanet:2414														https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia				owl:Class
MONDO:0003024	biolink:NamedThing	breast angiosarcoma	A malignant vascular neoplasm arising from the breast.	mondoexuq1wtf	breast angiosarcoma (disease)|BA|hemangiosarcoma of the breast|hemangiosarcoma of breast|breast angiosarcoma|angiosarcoma of breast|angiosarcoma of the breast|breast hemangiosarcoma|angiosarcoma (disease) of breast											DOID:4511|NCIT:C5184|UMLS:C1332614|MESH:C536368|GARD:0009974|ONCOTREE:BA														https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast				owl:Class
MONDO:0023094	biolink:NamedThing	exogenous ochronosis	Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.	mondoexuq1wtf	ochronosis, acquired|exogenous ochronosis|pseudo-ochronosis|ocular ochronosis											MESH:C531762|ICD9:270.2|GARD:0010757|SCTID:410041002														https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis				owl:Class
MONDO:0001910	biolink:NamedThing	ochronosis disorder	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.	mondoexuq1wtf	ochronosis											UMLS:C0028817|ICD9:270.2|NCIT:C84938|MESH:D009794|DOID:14223|GARD:0007231|HP:0030764|SCTID:410042009|ICD10:E70.29																		owl:Class
MONDO:0021925	biolink:NamedThing	tracheobronchitis	Inflammation of the tracheobronchial tree.	mondoexuq1wtf	tracheobronchitis|Tracheobronchitis											UMLS:C0040586|NCIT:C122784|SCTID:13617004																		owl:Class
MONDO:0018906	biolink:NamedThing	follicular lymphoma	Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.	mondoexuq1wtf	follicular non-Hodgkin lymphoma|follicular centre cell lymphoma|lymphoma, follicular|follicular non-Hodgkin's lymphoma|lymphoma, follicular centre cell|lymphoma, follicular, malignant|follicle center lymphoma											DOID:0050873|ICD10:C82.4|ONCOTREE:FL|NCIT:C3209|ICD10:C82.2|ICD10:C82.9|ICD10:C82.6|ICD10:C82.3|SCTID:308121000|ICD10:C82.7|ICD10:C82.5|MESH:D008224|Orphanet:545|ICD10:C82.1|ICD10:C82.0|GARD:0002356|HGNC:990|UMLS:C0024301|ICDO:9690/3														https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma				owl:Class
MONDO:0017594	biolink:NamedThing	indolent B-cell non-Hodgkin lymphoma		mondoexuq1wtf	indolent B cell lymphoma|indolent B-cell NHL|B cell lymphoma, indolent											Orphanet:300842|GARD:0010482|NCIT:C171299														https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma				owl:Class
MONDO:0011223	biolink:NamedThing	amyotrophic lateral sclerosis type 4	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.	mondoexuq1wtf	neuronopathy, distal hereditary motor, with pyramidal features|amyotrophic lateral sclerosis 4, juvenile|distal hereditary motor neuropathy with upper motor neuron signs|amyotrophic lateral sclerosis caused by mutation in SETX|distal hereditary motor neuropathy with pyramidal features|SETX amyotrophic lateral sclerosis|ALS4|dHMN with upper motor neuron signs|ALS 4|amyotrophic lateral sclerosis 4											MESH:C566550|GARD:0010502|DOID:0060196|UMLS:C1865409|ICD10:G12.2|Orphanet:357043|OMIM:602433														https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4				owl:Class
MONDO:0014022	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|MDDGA10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related|RXYLT1 muscular dystrophy-dystroglycanopathy, type A											DOID:0111239|UMLS:C3554381|OMIM:615041																		owl:Class
MONDO:0013815	biolink:NamedThing	FGFR2-related bent bone dysplasia		mondoexuq1wtf	bent bone dysplasia syndrome|BBDS|perinatal lethal bent bone dysplasia|bent bone dysplasia (BBD)-FGFR2 type											OMIM:614592|GARD:0010965|UMLS:C3281247|Orphanet:313855																		owl:Class
MONDO:0019698	biolink:NamedThing	bent bone dysplasia		mondoexuq1wtf	campomelic dysplasia and related disorders											ICD9:756.59|Orphanet:93439|SCTID:254095002|UMLS:C0432238																		owl:Class
MONDO:0013896	biolink:NamedThing	Joubert syndrome 18	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.	mondoexuq1wtf	Joubert syndrome caused by mutation in TCTN3|JBTS18|Joubert syndrome 18|TCTN3 Joubert syndrome|Joubert syndrome type 18											OMIM:614815|UMLS:C3553758|DOID:0110987																		owl:Class
MONDO:0016370	biolink:NamedThing	Marchiafava-Bignami disease	Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.	mondoexuq1wtf	metabolic bone disorder|acute Marchiafava-Bignami disease|chronic Marchiafava-Bignami syndrome|metabolic bone disease|Marchiafava Bignami disease|MBD											UMLS:C0238265|GARD:0006971|Orphanet:221074|MedDRA:10026828|EFO:1001809|ICD10:G37.1|MESH:D054319|ICD9:341.8|NCIT:C97045|SCTID:386766007														https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease				owl:Class
MONDO:0009168	biolink:NamedThing	Fowler syndrome		mondoexuq1wtf	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|Encephaloclastic proliferative vasculopathy|cerebral proliferative glomeruloid vasculopathy|hydranencephaly, fowler type|proliferative vasculopathy and hydranencephaly/hydrocephaly|PVHH|hydrocephaly/hydranencephaly due to cerebral vasculopathy											OMIM:225790|MedDRA:10071718|DOID:0111666|SCTID:700242002|MESH:C565593|ICD9:596.59|Orphanet:221126																		owl:Class
MONDO:0018710	biolink:NamedThing	megalencephaly-severe kyphoscoliosis-overgrowth syndrome		mondoexuq1wtf												Orphanet:457359																		owl:Class
MONDO:0006265	biolink:NamedThing	laryngeal small cell carcinoma	A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.	mondoexuq1wtf	small cell carcinoma of larynx|laryngeal throat small cell cancer|larynx small cell carcinoma|small cell carcinoma of the larynx|laryngeal small cell carcinoma											NCIT:C6025|DOID:7144|EFO:1000320|UMLS:C1334378																		owl:Class
MONDO:0023209	biolink:NamedThing	galactorrhoea-hyperprolactinaemia		mondoexuq1wtf	galactorrhoea-hyperprolactinaemia|galactorrhea-hyperprolactinemia|hyperprolactinaemia											GARD:0008400|MESH:C535402														https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia				owl:Class
MONDO:0001436	biolink:NamedThing	hemosiderosis	Accumulation of iron in internal organs.	mondoexuq1wtf	haemosiderosis											MESH:D006486|DOID:12119|GARD:0006595|NCIT:C82892|UMLS:C0019114|SCTID:39011001														https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis				owl:Class
MONDO:0017972	biolink:NamedThing	classic congenital lipoid adrenal hyperplasia due to STAR deficency		mondoexuq1wtf	classic CLAH											Orphanet:325524|ICD10:E25.0																		owl:Class
MONDO:0005692	biolink:NamedThing	cat-scratch disease	Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.	mondoexuq1wtf	Foshay-Mollaret Cat scratch fever|bartonellosis due to Bartonella henselae infection|Cat scratch disease|debre-Mollaret syndrome|benign lymphoreticulosis|debre's syndrome|Cat-scratch fever|cat scratch fever											GARD:0000027|NCIT:C84620|UMLS:C0007361|ICD9:078.3|MedDRA:10007729|SCTID:79974007|ICD10:A28.1|UMLS:CN205187|Orphanet:50839|COHD:440642|DOID:11258|EFO:0007195|MESH:D002372														https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease				owl:Class
MONDO:0005393	biolink:NamedThing	gout	A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.	mondoexuq1wtf	gout|gouty arthropathy|tophaceous gout|gouty arthritis|chronic gout|tophaceous disease|articular gout											SCTID:190828008|ICD9:274.0|ICD9:274|MESH:D006073|EFO:0004274|DOID:13189|UMLS:C0018099|ICD10:M10|ICD10:M10.9|ICD9:274.9|ICD9:274.00|NCIT:C34650|UMLS:C0003868|COHD:440674																		owl:Class
MONDO:0019199	biolink:NamedThing	interstitial granulomatous dermatitis with arthritis	Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.	mondoexuq1wtf	IGDA|Ackerman dermatitis syndrome											UMLS:CN205782|Orphanet:79099																		owl:Class
MONDO:0041095	biolink:NamedThing	malignant otitis externa caused by Pseudomonas aeruginosa	An malignant otitis externa caused by infection with Pseudomonas aeruginosa.	mondoexuq1wtf	malignant otitis externa caused by Pseudomonas aeruginosa|Pseudomonas aeruginosa malignant otitis externa|malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa caused malignant otitis externa											UMLS:C0395818|SCTID:232230009																		owl:Class
MONDO:0040732	biolink:NamedThing	Pseudomonas aeruginosa infectious disease		mondoexuq1wtf	infection due to Pseudomonas aeruginosa|infection caused by Pseudomonas aeruginosa											UMLS:C0276075|SCTID:11218009																		owl:Class
MONDO:0001042	biolink:NamedThing	patellar tendinitis	A tendinitis that involves the patella.	mondoexuq1wtf	patella tendinitis|tendinitis of patella|patellar tendonitis											ICD9:726.64|DOID:10471|ICD10:M76.50|ICD10:M76.5|SCTID:37785001|UMLS:C0158317																		owl:Class
MONDO:0007221	biolink:NamedThing	brachydactyly type C		mondoexuq1wtf	brachydactyly, type C|brachydactyly, Haws type|brachydactyly Haws type											GARD:0000986|Orphanet:93384|UMLS:C1862103|DOID:0110970|OMIM:113100|MESH:C537093|ICD10:Q73.8																		owl:Class
MONDO:0023005	biolink:NamedThing	double uterus-hemivagina-renal agenesis		mondoexuq1wtf												GARD:0001910														https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis				owl:Class
MONDO:0013916	biolink:NamedThing	nephronophthisis 14	Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.	mondoexuq1wtf	nephronophthisis type 14|ZNF423 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in ZNF423|nephronophthisis 14|Joubert syndrome 19|NPHP14											UMLS:C3539071|DOID:0111122|OMIM:614844																		owl:Class
MONDO:0002842	biolink:NamedThing	bacterial gastritis	Gastritis resulting from bacteria.	mondoexuq1wtf	Bacteria gastritis (disease)|Bacteria caused gastritis (disease)|bacterial gastritis											DOID:4033|UMLS:C0948039|NCIT:C27340|SCTID:723096000																		owl:Class
MONDO:0011035	biolink:NamedThing	neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).	mondoexuq1wtf	neurofibromatosis-Noonan syndrome|Noonan-neurofibromatosis syndrome|neurofibromatosis type 1-Noonan syndrome|neurofibromatosis with Noonan phenotype|Noonan neurofibromatosis syndrome|NFNS											Orphanet:638|GARD:0000372|DOID:0111683|MESH:C537393|OMIM:601321|ICD10:Q87.1|SCTID:715344006														https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome				owl:Class
MONDO:0005564	biolink:NamedThing	embryonal neoplasm	A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003	mondoexuq1wtf	embryonal neoplasm|embryo neoplasm|EMBT|embryonal tumor|embryonal cancer											NCIT:C3264|UMLS:C0027654|ONCOTREE:EMBT|DOID:688|EFO:0005784																		owl:Class
MONDO:0011885	biolink:NamedThing	tubulointerstitial nephritis and uveitis syndrome	An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.	mondoexuq1wtf	acute tubulointerstitial nephritis and uveitis syndrome|Tubulointerstitial nephritis and uveitis|TINU|Dobrin syndrome|TINU syndrome|TUBULOINTERSTITIAL nephritis with uveitis|acute Tubulointerstitial nephritis											MedDRA:10069039|Orphanet:91500|MedDRA:10069034|NCIT:C123021|OMIM:607665|GARD:0009252|ICD10:N10|UMLS:C1843273																		owl:Class
MONDO:0002385	biolink:NamedThing	benign cystic nephroma	A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.	mondoexuq1wtf	benign cystic nephroma|benign multilocular cystic nephroma|cystic nephroma											UMLS:C1266138|ICDO:8959/0|DOID:2673|EFO:1000213|NCIT:C7504																		owl:Class
MONDO:0007592	biolink:NamedThing	familial recurrent peripheral facial palsy		mondoexuq1wtf	facial palsy, familial recurrent peripheral|familial recurrent Bell palsy											UMLS:C1851399|OMIM:134200|MESH:C565028|Orphanet:2809|ICD10:G51.0																		owl:Class
MONDO:0013374	biolink:NamedThing	supernumerary der(22)t(8;22) syndrome		mondoexuq1wtf	supernumerary der(22)t(8;22) syndrome											UMLS:C3150966|OMIM:613700																		owl:Class
MONDO:0019890	biolink:NamedThing	non-distal trisomy 9q	Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.	mondoexuq1wtf	non-telomeric trisomy 9q|non-distal duplication 9q|non-distal trisomy type 9q											Orphanet:96112|SCTID:764997000|ICD10:Q92.3																		owl:Class
MONDO:0024677	biolink:NamedThing	pancreatic insulinoma	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.	mondoexuq1wtf	beta-cell adenoma|beta-cell tumor|tumor, beta-cell|adenoma, beta cell|insulinoma|tumors, beta-cell|islet cell adenoma|pancreatic insulinoma|Insulinomas|beta cell tumor|Insulomas|insulinoma tumor suppressor GENE locus|adenomas, beta-cell|beta-cell tumors|adenoma, beta-cell|insuloma|beta-cell adenomas					Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma						EFO:0000549|MedDRA:10022498|NCIT:C95598|DOID:3892|SCTID:302822000|GARD:0003010|MESH:D007340|HP:0012197|ICD10:E16.8																		owl:Class
MONDO:0023206	biolink:NamedThing	functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.	mondoexuq1wtf	functioning well-differentiated pancreatic NEN|functioning well-differentiated neuroendocrine neoplasm of pancreas|functional pancreatic NET|functioning well differentiated pancreatic endocrine tumor|syndromic pancreatic NET|functioning well-differentiated NEN of pancreas|functioning neuroendocrine tumor of pancreas|functioning PNET|functioning well differentiated pancreatic endocrine neoplasm|functioning well-differentiated pancreatic neuroendocrine neoplasm|syndromic pancreatic neuroendocrine tumor|functioning pancreatic endocrine tumor|functional pancreatic neuroendocrine tumor|functioning pancreatic neuroendocrine tumor|functioning pancreatic NET											UMLS:C1708107|GARD:0002414|Orphanet:506060|NCIT:C45840														https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor				owl:Class
MONDO:0044406	biolink:NamedThing	arthrogryposis-ectodermal dysplasia-other anomalies syndrome		mondoexuq1wtf	Stoll-Alembik-Finck syndrome											GARD:0005029|Orphanet:3200																		owl:Class
MONDO:0001596	biolink:NamedThing	hypochondriasis	A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.	mondoexuq1wtf	hypochondriacal disorder|hypochondria|hypochondriacal neurosis											MESH:D006998|COHD:434920|ICD9:300.7|ICD10:F45.21|SCTID:18193002|DOID:12883|ICD10:F45.2																		owl:Class
MONDO:0018743	biolink:NamedThing	immune-mediated acquired neuromuscular junction disease		mondoexuq1wtf												Orphanet:464764|UMLS:CN242076																		owl:Class
MONDO:0013452	biolink:NamedThing	multisystemic smooth muscle dysfunction syndrome	Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.	mondoexuq1wtf	mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|multisystemic smooth muscle dysfunction syndrome											Orphanet:404463|UMLS:C3151201|GARD:0012811|OMIM:613834|ICD10:I73.8														https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome				owl:Class
MONDO:0018339	biolink:NamedThing	PrP systemic amyloidosis	Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.	mondoexuq1wtf	chronic diarrhea with hereditary sensory and autonomic neuropathy|chronic diarrhea with HSAN|prion protein systemic amyloidosis											ICD10:G60.8|Orphanet:397606|SCTID:733422008|UMLS:C4518776																		owl:Class
MONDO:0003103	biolink:NamedThing	nerve root neoplasm	Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.	mondoexuq1wtf	neoplasm of nerve root|neoplasms, nerve Root|tumor of nerve root|nerve Root tumor|nerve Root tumors|tumor of the nerve Root|tumor of nerve Root|nerve root neoplasm (disease)|nerve Root neoplasms|nerve root tumor|neoplasm of the nerve Root|neoplasm of nerve Root											NCIT:C5119|UMLS:C1334946|DOID:4698																		owl:Class
MONDO:0006227	biolink:NamedThing	gastric neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.	mondoexuq1wtf	gastric ECL-cell carcinoid tumor|gastric enterochromaffin-like cell neuroendocrine tumor|gastric carcinoid tumor|stomach NET G1|stomach neuroendocrine tumor, well differentiated, low grade|gastric ECL cell NET|gastric NET G1|grade 1 neuroendocrine neoplasm of stomach|gastric ECL cell, histamine-producing NET|gastric enterochromaffin-like cell carcinoid tumor|gastric ECL cell NET G1|stomach neuroendocrine neoplasm G1|stomach carcinoid tumor											NCIT:C4635|EFO:1000275|UMLS:C0349529																		owl:Class
MONDO:0012592	biolink:NamedThing	osteogenesis imperfecta type 11	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.	mondoexuq1wtf	OI11|OI, type 11|osteogenesis imperfecta, type 11|FKBP10 osteogenesis imperfecta|osteogenesis imperfecta, type XI|osteogenesis imperfecta caused by mutation in FKBP10|OI type XI|OI type 11|osteogenesis imperfecta type XI											OMIM:610968|UMLS:C3151218|DOID:0110351|GARD:0012875|ICD10:Q78.0																		owl:Class
MONDO:0012143	biolink:NamedThing	hereditary cryohydrocytosis with reduced stomatin		mondoexuq1wtf	cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|ChC type 2|SDCHCN|sdCHC|stomatin-deficient cryohydrocytosis with neurologic defects|stomatin-deficient cryohydrocytosis|cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly											ICD10:D58.8|MESH:C563840|UMLS:C1837206|Orphanet:168577|OMIM:608885																		owl:Class
MONDO:0001310	biolink:NamedThing	Bowman's membrane folds or rupture		mondoexuq1wtf	Bowman membrane folds or rupture|folds and/or rupture of bowman's membrane											DOID:11552|SCTID:45382000|ICD9:371.31|UMLS:C0155115|ICD10:H18.31																		owl:Class
MONDO:0100189	biolink:NamedThing	apolipoprotein A-I deficiency	A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).	mondoexuq1wtf	ApoA-I deficiency|familial apoA-I deficiency|familial hypoalphalipoproteinemia							http://orcid.org/0000-0001-5208-3432				Orphanet:425																		owl:Class
MONDO:0014522	biolink:NamedThing	retinal dystrophy and obesity		mondoexuq1wtf	retinal dystrophy and obesity|RDOB											UMLS:C4015424|OMIM:616188																		owl:Class
MONDO:0004864	biolink:NamedThing	acute allergic mucoid otitis media	A blue drum syndrome caused by an allergen.	mondoexuq1wtf												SCTID:8326008|UMLS:C0155419|ICD9:381.05|DOID:9735																		owl:Class
MONDO:0004865	biolink:NamedThing	blue drum syndrome	A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.	mondoexuq1wtf	blue drum syndrome|acute mucoid otitis media|acute non-suppurative otitis media - mucoid											UMLS:C0395863|DOID:9736|COHD:374049|ICD9:381.02|SCTID:52353000																		owl:Class
MONDO:0020211	biolink:NamedThing	syndromic keratoconus	A keratoconus (disease) that is part of a larger syndrome.	mondoexuq1wtf	syndromic keratoconus (disease)|syndrome associated with keratoconus (disease)											UMLS:CN227821|Orphanet:98623																		owl:Class
MONDO:0002409	biolink:NamedThing	auditory system disease	A disease involving the auditory system.	mondoexuq1wtf	disease of auditory system|auditory system disease|disorder of auditory system|auditory disease|disease or disorder of auditory system|ear and mastoid disease|auditory system disease or disorder											ICD10:H93.90|ICD10:H93.9|ICD9:388.9|DOID:2742|SCTID:362966006|EFO:1001455																		owl:Class
MONDO:0021948	biolink:NamedThing	cutaneous tuberculosis		mondoexuq1wtf	Tuberculosis, Cutaneous|cutaneous tuberculosis|Cutaneous Tuberculoses|Tuberculosis cutis|tuberculosis cutis|Tuberculoses, Cutaneous|Tuberculosis, Skin|Tuberculoses, Skin|Cutaneous Tuberculosis|Skin Tuberculosis|Cutaneous tuberculosis|tuberculoderma|Skin Tuberculoses|Tuberculosis of skin|tuberculosis of skin|Tuberculoderma											EFO:1001443|SCTID:66986005|UMLS:C0041309																		owl:Class
MONDO:0022612	biolink:NamedThing	Brunsting-Perry syndrome		mondoexuq1wtf	cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome|localized cicatricial pemphigoid											UMLS:C1304226|GARD:0010454|EFO:0008611														https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome				owl:Class
MONDO:0003173	biolink:NamedThing	brain stem astrocytic neoplasm	An astrocytoma that arises from the brain stem.	mondoexuq1wtf	brain stem astrocytoma|brainstem astrocytoma (excluding glioblastoma)|brainstem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem											NCIT:C7445|DOID:4860|SCTID:107581000119103|UMLS:C1332608																		owl:Class
MONDO:0002911	biolink:NamedThing	brain stem glioma	A neuroglial tumor that arises from the brain stem.	mondoexuq1wtf	glioma of the brain stem|glioma of brainstem|brainstem malignant glioma|glioma of brain stem|brainstem glioma|diffuse brainstem glioma|brain stem neuroglial neoplasm|malignant glioma of brainstem|brain stem glioma|brain stem neuroglial tumor|glioma of the brainstem|brainstem neuroglial neoplasm|brainstem neuroglial tumor											NCIT:C8501|UMLS:C0677865|DOID:4202|SCTID:444545003																		owl:Class
MONDO:0008007	biolink:NamedThing	tooth ankylosis	Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.	mondoexuq1wtf	ankylosis of tooth|calcareous tooth ankylosis (disease)|molar I reinclusion|ankylosis of teeth|ankylosis (disease) of calcareous tooth|dental ankylosis|molar 1 reinclusion|secondary retention of permanent molars|permanent molars, secondary retention OF|abnormal fusion of dental cementum with alveolar bone											EFO:1001215|COHD:433229|Orphanet:1077|DOID:12661|SCTID:14901003|OMIM:157950|MedDRA:10044019|UMLS:C0155930|ICD9:521.6|ICD10:K03.5|MESH:D020254|GARD:0000701																		owl:Class
MONDO:0002257	biolink:NamedThing	ankylosis	Fixation and immobility of a joint.	mondoexuq1wtf	ankylosis (disease)|ankylosis		ankylosis (disease)									HP:0031013|SCTID:111227009|ICD9:718.50|DOID:227|ICD9:718.5|ICD10:M24.6|MESH:D000844																		owl:Class
MONDO:0016059	biolink:NamedThing	cleft lip/palate-deafness-sacral lipoma syndrome	Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	mondoexuq1wtf	Lowry-Yong syndrome											UMLS:CN200748|SCTID:716007007|Orphanet:2003|ICD10:Q87.8																		owl:Class
MONDO:0017094	biolink:NamedThing	cerebral cortical dysplasia	Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.	mondoexuq1wtf	cortical dysplasia|brain cortical dysplasia											Orphanet:268950|NCIT:C42088|SCTID:253153000|ICD10:Q04.8|MESH:D054220																		owl:Class
MONDO:0015572	biolink:NamedThing	cerebral malformation due to abnormal neuronal migration		mondoexuq1wtf	brain malformation due to abnormal neuronal migration|non-syndromic cerebral malformation due to abnormal neuronal migration					Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58						Orphanet:163209|ICD10:Q04.8																		owl:Class
MONDO:0002235	biolink:NamedThing	eyelid neoplasm	A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.	mondoexuq1wtf	palpebral tumor|tumor of eyelid|eyelid neoplasm (disease)|eyelid neoplasm|neoplasm of eyelid|eyelid tumor|neoplasm of the eyelid|tumor of the eyelid											NCIT:C3031|UMLS:C0015424|MESH:D005142|Orphanet:98580|DOID:2173|SCTID:278697001|EFO:1000934																		owl:Class
MONDO:0018153	biolink:NamedThing	Erdheim-Chester disease	Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.	mondoexuq1wtf	Erdheim-Chester disease|ECD|polyostotic sclerosing histiocytosis|Erdheim Chester disease|lipogranulomatosis|lipoid granulomatosis											MedDRA:10060801|ICD9:277.89|UMLS:C0878675|SCTID:699537002|EFO:1000926|DOID:4329|GARD:0006369|Orphanet:35687|ICD10:D76.3|ONCOTREE:ECD|MESH:D031249|NCIT:C53972																		owl:Class
MONDO:0017955	biolink:NamedThing	granulomatous autoinflammatory syndrome		mondoexuq1wtf												Orphanet:324930|UMLS:CN204101																		owl:Class
MONDO:0019139	biolink:NamedThing	acquired hemophilia	Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes.	mondoexuq1wtf	acquired haemophilia|hemophilia, acquired|acquired hemophilia											Orphanet:73274|ICD10:D68.311|UMLS:C1096116|MESH:C536392|ICD10:D68.4|MedDRA:10053745|GARD:0010350																		owl:Class
MONDO:0020717	biolink:NamedThing	autosomal dominant woolly hair		mondoexuq1wtf	ADWH											OMIM:194300|DOID:0111573																		owl:Class
MONDO:0008686	biolink:NamedThing	isolated familial woolly hair disorder	Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.	mondoexuq1wtf	woolly hair syndrome|wooly hair|hereditary woolly hair (autosomal dominant)|ADWH|woolly hair|familial woolly hair (autosomal recessive)|hereditary woolly hair syndrome|woolly hair, autosomal dominant|familial woolly hair syndrome|hereditary wooly hair syndrome|familial wooly hair syndrome											MedDRA:10048017|MESH:C536745|UMLS:CN200245|HP:0002224|SCTID:52564001|ICD10:Q84.1|DOID:0111572|GARD:0005597|Orphanet:170																		owl:Class
MONDO:0023067	biolink:NamedThing	endemic Kaposi sarcoma		mondoexuq1wtf	African/endemic Kaposi sarcoma|African Kaposi sarcoma											GARD:0010431														https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma				owl:Class
MONDO:0007118	biolink:NamedThing	isolated anhidrosis with normal sweat glands	Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.	mondoexuq1wtf	anhidrosis caused by mutation in ITPR2|Dann-Epstein-Sohar syndrome|anhidrosis, isolated, with normal sweat glands|ANHD|isolated generalized anhidrosis with normal sweat glands|ITPR2 anhidrosis											UMLS:C1862871|Orphanet:468666|OMIM:106190|DOID:0060603																		owl:Class
MONDO:0006527	biolink:NamedThing	anhidrosis	Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.	mondoexuq1wtf	absence of sweating|adiaphoresis											EFO:1000670|DOID:11156|COHD:140490|SCTID:39659002|ICD10:L74.4|ICD9:705.0																		owl:Class
MONDO:0037743	biolink:NamedThing	mediastinal soft tissue cancer	A malignant neoplasm that arises from the soft tissues of the mediastinum.	mondoexuq1wtf	malignant soft tissue neoplasm of mediastinum|mediastinal mesenchymal tumor, malignant|malignant mediastinal mesenchymal tumor|malignant soft tissue tumor of mediastinum|malignant soft tissue tumor of the mediastinum|malignant soft tissue neoplasm of the mediastinum|malignant mediastinal soft tissue tumor|malignant mediastinal soft tissue neoplasm											NCIT:C6642|UMLS:C1334599																		owl:Class
MONDO:0024637	biolink:NamedThing	malignant soft tissue neoplasm	A malignant neoplasm arising exclusively from the soft tissues.	mondoexuq1wtf	malignant tumor of soft tissue|malignant neoplasm of the soft tissue|malignant soft tissue neoplasm|malignant tumor of the soft tissue|malignant neoplasm of soft tissue|malignant soft tissue tumor											SCTID:269469005|NCIT:C4867																		owl:Class
MONDO:0013521	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 2	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.	mondoexuq1wtf	dyskeratosis congenita, autosomal dominant type 2|dyskeratosis congenita, autosomal dominant 2|dyskeratosis congenita, autosomal recessive 4|autosomal dominant dyskeratosis congenita 2|DKCA2											UMLS:C3151443|OMIM:613989|DOID:0070016																		owl:Class
MONDO:0017629	biolink:NamedThing	sodium channelopathy-related small fiber neuropathy		mondoexuq1wtf												Orphanet:306577																		owl:Class
MONDO:0021016	biolink:NamedThing	channelopathy	A disease caused by disturbed function of ion channel subunits or the proteins that regulate them.	mondoexuq1wtf	ion channel activity disease|disorder of ion channel activity											UMLS:C1720983|MESH:D053447																		owl:Class
MONDO:0021680	biolink:NamedThing	streptococcal infection	Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.	mondoexuq1wtf	Streptococcus disease or disorder|infections, streptococcal|Streptococcus infectious disease|streptococcal infection|Streptococcus caused disease or disorder|infection, streptococcal											ICD9:041.09|SCTID:85769006|EFO:1001476|MESH:D013290|ICD9:041.00|UMLS:C0038395|NCIT:C87062																		owl:Class
MONDO:0023068	biolink:NamedThing	engelhard yatziv syndrome		mondoexuq1wtf												GARD:0002124														https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome				owl:Class
MONDO:0021532	biolink:NamedThing	fibroma of prostate	A fibroma that involves the prostate gland.	mondoexuq1wtf	prostate gland fibroma|fibroma of the prostate|prostate fibroma											NCIT:C3972|SCTID:47014000|ICD9:600.20|UMLS:C0268885																		owl:Class
MONDO:0100080	biolink:NamedThing	cardioectodermal syndrome	Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.	mondoexuq1wtf	cardio-ectodermal syndrome							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0009978	biolink:NamedThing	retinal degeneration-nanophthalmos-glaucoma syndrome	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	mondoexuq1wtf	retinal degeneration, nanophthalmos, glaucoma|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|MacKay Shek Carr syndrome|Mackay-Shek-Carr syndrome											Orphanet:1574|MESH:C538364|ICD10:H35.5|OMIM:267760|SCTID:723503006|GARD:0000395|UMLS:C2931831																		owl:Class
MONDO:0008071	biolink:NamedThing	autosomal dominant progressive nephropathy with hypertension		mondoexuq1wtf	renal failure, adult-onset|RFH1|renal failure, progressive, with hypertension|nephropathy, familial|nephritis, familial, without deafness or ocular defect											Orphanet:88659|ICD9:583.9|OMIM:161900|SCTID:703310005|ICD10:I15.1|UMLS:C0403443|MESH:C562889|UMLS:C3839782																		owl:Class
MONDO:0014184	biolink:NamedThing	specific language impairment 5	A communication disorder that involves the processing of linguistic information.	mondoexuq1wtf	SLI5|specific language impairment type 5|specific language impairment 5											UMLS:C3809483|OMIM:615432																		owl:Class
MONDO:0001374	biolink:NamedThing	bladder sarcoma	A malignant mesenchymal cell neoplasm that affects the urinary bladder.	mondoexuq1wtf	sarcoma of the bladder|sarcoma of urinary bladder|bladder sarcoma|urinary bladder sarcoma|sarcoma of bladder|sarcoma of the urinary bladder											DOID:11812|UMLS:C0349666|NCIT:C4669|SCTID:278046008																		owl:Class
MONDO:0003736	biolink:NamedThing	cancerophobia	An overwhelming, irrational, and persistent fear of being diagnosed with cancer.	mondoexuq1wtf	fear of getting cancer|cancer phobia|fear of getting cancer (finding)|Cancerphobia											DOID:602|NCIT:C35492|EFO:1001879																		owl:Class
MONDO:0018124	biolink:NamedThing	Oncogenic osteomalacia	Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.	mondoexuq1wtf	OO|Oncogenic hypophosphatemic osteomalacia|TIO|OOM|tumor-induced osteomalacia											SCTID:392559009|GARD:0009652|MESH:C537751|ICD10:M83.8|NCIT:C67235|UMLS:C1274103|Orphanet:352540														https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia				owl:Class
MONDO:0008275	biolink:NamedThing	familial expansile osteolysis		mondoexuq1wtf	expansile osteolysis, familial|osteolysis, familial expansile|HEPOD|EOF|familial expansile osteolysis|hereditary expansile polyostotic osteolytic dysplasia|Mccabe disease|FEO|McCabe disease|polyostotic osteolytic dysplasia, hereditary expansile											ICD10:M89.5|GARD:0009168|OMIM:174810|SCTID:254153009|DOID:0111542|Orphanet:85195|MESH:C536335|ICD9:756.9																		owl:Class
MONDO:0023133	biolink:NamedThing	Faye-Petersen-Ward-Carey syndrome		mondoexuq1wtf												UMLS:C2931417|MESH:C537076																		owl:Class
MONDO:0007318	biolink:NamedThing	Alagille syndrome	Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.	mondoexuq1wtf	syndromic bile duct paucity|Alagille-Watson syndrome|Hepatofacioneurocardiovertebral syndrome|Cardiovertebral syndrome|paucity of interlobular bile ducts|Arteriohepatic dysplasia|hepatic ductular hypoplasia|Watson-Miller syndrome|Alagille syndrome|Watson Alagille syndrome											ICD9:759.89|ICD10:Q44.7|GARD:0000804|SCTID:31742004|UMLS:C0085280|MedDRA:10053870|OMIMPS:118450|NCIT:C35139|MESH:D016738|DOID:9245|Orphanet:52																		owl:Class
MONDO:0014271	biolink:NamedThing	STT3B-CDG	STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type IX|congenital disorder of glycosylation, type IX|CDG-Ix|congenital disorder of glycosylation type 1x|congenital disorder of glycosylation type IX|CDG syndrome type IX|CDG1X|CDG IX											DOID:0080573|ICD10:E77.8|Orphanet:370924|UMLS:C2931007|SCTID:733112007|OMIM:615597|MESH:C535751																		owl:Class
MONDO:0002832	biolink:NamedThing	endometrial transitional cell carcinoma	A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.	mondoexuq1wtf	endometrial transitional cell carcinoma											NCIT:C40154|DOID:4005|UMLS:C1516864																		owl:Class
MONDO:0014016	biolink:NamedThing	hereditary spastic paraplegia 49	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 49|hereditary spastic paraplegia caused by mutation in TECPR2|SPG49|TECPR2 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 49|hereditary spastic paraplegia type 49|spastic paraplegia 49, autosomal recessive											DOID:0110801|OMIM:615031|UMLS:C3542549|ICD10:G11.4|Orphanet:320385																		owl:Class
MONDO:0037254	biolink:NamedThing	transitional cell neoplasm		mondoexuq1wtf	transitional cell neoplasm|transitional cell tumor											UMLS:C0334265|NCIT:C6783																		owl:Class
MONDO:0008051	biolink:NamedThing	tubular aggregate myopathy	Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.	mondoexuq1wtf	myopathy, tubular aggregate, type 1|myopathy, tubular aggregate, 1|TAM1											OMIMPS:160565|DOID:0080089|Orphanet:2593|GARD:0003884|ICD10:G71.2														https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy				owl:Class
MONDO:0020492	biolink:NamedThing	hemimegalencephaly	Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.	mondoexuq1wtf	unilateral megalencephaly|macrencephaly											ICD9:742.4|MESH:D065705|GARD:0002637|UMLS:C0431391|Orphanet:99802|ICD10:Q04.5|SCTID:253170008														https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly				owl:Class
MONDO:0007119	biolink:NamedThing	isolated aniridia	Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.	mondoexuq1wtf	nonsyndromic aniridia|aniridia without systemic involvement											ICD10:Q13.1|Orphanet:250923|OMIMPS:106210																		owl:Class
MONDO:0015217	biolink:NamedThing	non-syndromic developmental defect of the eye	A developmental defect of the eye that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic developmental defect of the eye|isolated developmental defect of the eye											Orphanet:108985																		owl:Class
MONDO:0003575	biolink:NamedThing	comedocarcinoma	A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.	mondoexuq1wtf	Comedocarcinoma|comedo carcinoma					Editor note: The DO class may refer to a different entity						DOID:5670|UMLS:C0334370|NCIT:C4188|ICDO:8501/3																		owl:Class
MONDO:0013515	biolink:NamedThing	osteogenesis imperfecta type 6	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.	mondoexuq1wtf	osteogenesis imperfecta caused by mutation in SERPINF1|OI6|osteogenesis imperfecta, type 6|SERPINF1 osteogenesis imperfecta|OI type 6|osteogenesis imperfecta, type VI|OI type VI|SERPINFI- related osteogenesis imperfecta|osteogenesis imperfecta type|osteogenesis imperfecta type VI											DOID:0110350|UMLS:C3279564|GARD:0008700|OMIM:613982|MESH:C536047|ICD10:Q78.0																		owl:Class
MONDO:0020160	biolink:NamedThing	secondary entropion		mondoexuq1wtf												Orphanet:98569|ICD10:H02.0																		owl:Class
MONDO:0004930	biolink:NamedThing	steroid-induced glaucoma		mondoexuq1wtf	corticosteroid-induced glaucoma											ICD9:365.3|SCTID:1654001|ICD9:365.89|UMLS:C0339578|DOID:9946																		owl:Class
MONDO:0006317	biolink:NamedThing	neurothekeoma	A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.	mondoexuq1wtf	nerve sheath Myxoma|neurothekeoma											EFO:1000394|MESH:D018321|ICDO:9562/0|UMLS:C0206730|NCIT:C7018																		owl:Class
MONDO:0012102	biolink:NamedThing	glaucoma 1, open angle, K		mondoexuq1wtf	JOAG1K|glaucoma, primary open angle, juvenile-onset, 3|GLC1K|glaucoma 1, open angle, K											OMIM:608696|MESH:C563873|UMLS:C1837527																		owl:Class
MONDO:0012020	biolink:NamedThing	chromosome 22q11.2 microduplication syndrome	The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.	mondoexuq1wtf	chromosome 22q11.2 microduplication syndrome|chromosome 22q11.2 DUPLICATION syndrome|22q11.2 duplication syndrome|trisomy 22q11.2|chromosome 22q11.2 duplication syndrome|dup(22)(q11)|22q11.2 microduplication syndrome|22q11.2 duplication|Duplication 22q11.2|duplication 22q11.2											ICD9:758.5|DOID:0060436|ICD10:Q92.3|UMLS:C2675369|OMIM:608363|Orphanet:1727|SCTID:699311001|MESH:C567224|GARD:0010557														https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome				owl:Class
MONDO:0016972	biolink:NamedThing	partial duplication of the long arm of chromosome 22		mondoexuq1wtf	partial trisomy of chromosome 22q|partial duplication of the long arm of chromosome type 22|partial duplication of chromosome 22q|partial trisomy of the long arm of chromosome 22											Orphanet:263004																		owl:Class
MONDO:0015522	biolink:NamedThing	situs ambiguus		mondoexuq1wtf	partial situs inversus|situs ambiguous|incomplete situs inversus											GARD:0010875|Orphanet:157769|MedDRA:10059119|SCTID:14821001|ICD10:Q89.3																		owl:Class
MONDO:0012145	biolink:NamedThing	macular degeneration, age-related, 3	Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.	mondoexuq1wtf	HNARMD|FBLN5 age-related macular degeneration|neuropathy, hereditary, with or without age-related macular Degeneration|macular Degeneration, age-related, type 3|ARMD3|neuropathy, hereditary, with or without age-related macular degeneration|macular degeneration, age-related, 3|age-related macular degeneration caused by mutation in FBLN5											UMLS:C1837187|OMIM:608895|MESH:C563838																		owl:Class
MONDO:0018321	biolink:NamedThing	atypical juvenile parkinsonism	Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.	mondoexuq1wtf												UMLS:CN204972|UMLS:C4510873|ICD10:G20|Orphanet:391411|SCTID:725146001																		owl:Class
MONDO:0010188	biolink:NamedThing	familial isolated deficiency of vitamin E	Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.	mondoexuq1wtf	vitamin E, familial isolated deficiency OF|Friedreich-like ataxia with selective vitamin E deficiency|isolated vitamin E deficiency|Friedreich-like ataxia|VED|ataxia, Friedreich-like, with selective vitamin E deficiency|familial isolated vitamin E deficiency|ataxia with isolated vitamin E deficiency|AVED|ataxia with vitamin E deficiency|familial isolated deficiency of vitamin type E											DOID:0090028|ICD9:269.1|MedDRA:10047631|ICD9:334.3|ICD10:G11.1|Orphanet:96|GARD:0008595|SCTID:702442008|OMIM:277460|MESH:C535393																		owl:Class
MONDO:0042489	biolink:NamedThing	disease susceptibility	A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.	mondoexuq1wtf	diathesis|diatheses|susceptibilities, disease|susceptibility, disease|disease susceptibilities											MESH:D004198																		owl:Class
BFO:0000016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008534	biolink:NamedThing	generalized essential telangiectasia		mondoexuq1wtf	GET|telangiectasia, generalized essential|telangiectasia, hereditary benign|Hbt											UMLS:C0473555|OMIM:187260|SCTID:238763007|Orphanet:280774																		owl:Class
MONDO:0018654	biolink:NamedThing	idiopathic dropped head syndrome		mondoexuq1wtf	isolated neck extensor myopathy											UMLS:CN237712|Orphanet:447881																		owl:Class
MONDO:0021562	biolink:NamedThing	omphalitis	Inflammation of the umbilical cord stump in newborns.	mondoexuq1wtf	Omphalitis|omphalitis											GTR:AN0533760|SCTID:239095007|NCIT:C116008|UMLS:C0028992																		owl:Class
MONDO:0003154	biolink:NamedThing	hemangioma of peripheral nerve	A hemangioma arising from the peripheral nerves.	mondoexuq1wtf	hemangioma of nerve|hemangioma of peripheral nerve|nerve hemangioma											DOID:482|UMLS:C1333956|NCIT:C27507																		owl:Class
MONDO:0036915	biolink:NamedThing	benign ovarian mucinous tumor	A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.	mondoexuq1wtf	ovarian mucinous neoplasm, benign|benign ovarian mucinous neoplasm|benign ovarian mucinous tumor											UMLS:C1511100|EFO:1000115|NCIT:C40039																		owl:Class
MONDO:0010088	biolink:NamedThing	mucosulfatidosis	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.	mondoexuq1wtf	multiple sulfatase deficiency|multiple sulfatase deficiency disease|juvenile sulfatidosis|juvenile sulfatidosis, Austin type|MSD|sulfatidosis juvenile, Austin type|mucosulfatidosis|sulfatidosis, juvenile, Austin type											DOID:0050441|SCTID:54898003|UMLS:C0268263|NCIT:C84908|OMIM:272200|MESH:D052517|Orphanet:585|ICD10:E75.2|GARD:0005061																		owl:Class
MONDO:0015046	biolink:NamedThing	gamma-heavy chain disease	Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.	mondoexuq1wtf	Franklin disease|gamma-HCD|gamma heavy chain disease|Franklin's disease											Orphanet:100026|NCIT:C3083|ICD10:C88.2|ICD9:273.2|DOID:0060127|SCTID:109984001|GARD:0010346																		owl:Class
MONDO:0019464	biolink:NamedThing	heavy chain disease	Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.	mondoexuq1wtf	heavy chain disease|HCD											EFO:1001341|ICD10:C88.3|MESH:D006362|NCIT:C3082|UMLS:C0018852|Orphanet:86864|MedDRA:10019350|DOID:0060125|ICD10:C88.2|SCTID:68979007|ICDO:9762/3|ICD9:273.2																		owl:Class
MONDO:0010991	biolink:NamedThing	laterality defects, autosomal dominant		mondoexuq1wtf	laterality defects, autosomal dominant|laterality defects dominant											UMLS:C1832813|OMIM:601086|MESH:C563391|GARD:0003198																		owl:Class
MONDO:0044709	biolink:NamedThing	cochleovestibular dysplasia		mondoexuq1wtf												Orphanet:502305																		owl:Class
MONDO:0015604	biolink:NamedThing	middle ear anomaly		mondoexuq1wtf												MedDRA:10060957|ICD10:Q16.4|Orphanet:164004|ICD10:Q16.3																		owl:Class
MONDO:0022758	biolink:NamedThing	chromosome 22, monosome mosaic		mondoexuq1wtf	Mosaic monosome 22|chromosome 22 mosaic monosomy											UMLS:CN036765|MESH:C536798																		owl:Class
MONDO:0015199	biolink:NamedThing	aniridia - intellectual disability syndrome	Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.	mondoexuq1wtf	aniridia associated with mental retardation and other eye abnormalities|Walker-Dyson syndrome|Walker Dyson syndrome|aniridia associated with intellectual disability and other eye abnormalities											Orphanet:1068|GARD:0005530|MESH:C536568|UMLS:C2931243																		owl:Class
MONDO:0008843	biolink:NamedThing	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	mondoexuq1wtf	Feigenbaum Bergeron Richardson syndrome|Feigenbaum-Bergeron-Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder											Orphanet:1192|SCTID:720519003|OMIM:209010|MESH:C565928|GARD:0002279																		owl:Class
MONDO:0021964	biolink:NamedThing	bagatelle Cassidy syndrome		mondoexuq1wtf	macrocephaly short limbs deafness|macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay											UMLS:C2931616|MESH:C537796|GARD:0000398														https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome				owl:Class
MONDO:0016608	biolink:NamedThing	megalencephaly	A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).	mondoexuq1wtf	macroencephaly|megalencephaly (disease)|megalencephaly		megalencephaly (disease)									SCTID:9740002|Orphanet:2477|HP:0001355|MedDRA:10050183|ICD9:742.4|MESH:D058627|ICD10:Q04.5																		owl:Class
MONDO:0013475	biolink:NamedThing	hypertrophic cardiomyopathy 18	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	mondoexuq1wtf	CMH18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy, familial hypertrophic, 18|cardiomyopathy, familial hypertrophic, type 18|hypertrophic cardiomyopathy type 18|PLN hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 18											UMLS:C3151265|OMIM:613874|DOID:0110324																		owl:Class
MONDO:0021464	biolink:NamedThing	benign neoplasm of cecum	A benign neoplasm that involves the caecum.	mondoexuq1wtf	benign cecum tumor|caecum benign neoplasm|benign cecum neoplasm|benign tumor of the cecum|benign neoplasm of the cecum|benign tumor of cecum											ICD10:D12.0|NCIT:C4772|UMLS:C0496859|SCTID:92040001																		owl:Class
MONDO:0005694	biolink:NamedThing	cecal neoplasm	A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	mondoexuq1wtf	neoplasm of cecum|tumor of the cecum|cecal benign neoplasm|caecum neoplasm (disease)|neoplasm of caecum|cecum tumor|tumor of caecum|tumor of cecum|cecum neoplasm|caecum neoplasm|neoplasm of the cecum|caecum tumor											SCTID:126839008|EFO:0007197|NCIT:C4433|DOID:1517|MESH:D002430|UMLS:C0007528																		owl:Class
MONDO:0009675	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2A	Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	mondoexuq1wtf	limb-girdle muscular dystrophy due to calpain deficiency|calpainopathy|muscular dystrophy limb girdle type 2A, erb type|muscular dystrophy, Pelvofemoral|limb-girdle muscular dystrophy type 2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy|pelvofemoral muscular dystrophy|LGMD2A|LGMD2|myositis, eosinophilic|muscular dystrophy, limb-girdle, type 2|primary calpainopathy|muscular dystrophy, limb-girdle, type 2A|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|Leyden-Moebius muscular dystrophy|limb-girdle muscular dystrophy type 2											MESH:C535895|ICD10:G71.0|GARD:0003845|DOID:0110275|OMIM:253600|SCTID:715341003|GARD:0001057|Orphanet:267|NCIT:C142079																		owl:Class
MONDO:0005834	biolink:NamedThing	lymphogranuloma venereum	Infection with the organism Mycobacterium.	mondoexuq1wtf	Poradenitis inguinale|climatic or tropical bubo|LGV|strumous bubo|lymph granuloma inguinale|Durand-Nicolas-Favre disease|lymphogranuloma inguinale											ICD9:099.1|MESH:D008219|NCIT:C26822|GARD:0009545|ICD10:A55|SCTID:186946009|DOID:13819|EFO:0007353|UMLS:C0024286|COHD:194287														https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum				owl:Class
MONDO:0006515	biolink:NamedThing	acute pancreatitis	An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.	mondoexuq1wtf	acute necrotizing pancreatitis|acute pancreatitis (disorder) [ambiguous]|pancreatitis, acute|pancreatitis necrotizing											ICD9:577.0|UMLS:C0001339|ICD10:K85.9|ICD10:K85|EFO:1000652|HP:0001735|DOID:2913|COHD:199074|UMLS:C0267941|SCTID:7881005|Wikipedia:Acute_pancreatitis|NCIT:C95437|MESH:D019283																		owl:Class
MONDO:0012481	biolink:NamedThing	mevalonic aciduria	Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	mondoexuq1wtf	Mevalonicaciduria|mevalonic aciduria|MKD|complete mevalonate kinase deficiency|HIDS|MEVA|hyperimmunoglobulin D with periodic fever syndrome|MVA											SCTID:718558008|NCIT:C84890|UMLS:C1959626|Orphanet:29|OMIM:610377|MedDRA:10072219|GARD:0003588|DOID:0050452|ICD10:E88.8														https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria				owl:Class
MONDO:0017708	biolink:NamedThing	mevalonate kinase deficiency		mondoexuq1wtf												Orphanet:309025|MedDRA:10072221																		owl:Class
MONDO:0014137	biolink:NamedThing	precocious puberty, central, 2	Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.	mondoexuq1wtf	central precocious puberty caused by mutation in MKRN3|precocious puberty, central, type 2|MKRN3 central precocious puberty|precocious puberty, central, 2|CPPB2											OMIM:615346|UMLS:C3809199																		owl:Class
MONDO:0019165	biolink:NamedThing	central precocious puberty	Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).	mondoexuq1wtf	gonadotropin-dependant precocious puberty|precocious puberty, central|CPP|gonadotropin-dependent precocious puberty											MESH:C562787|UMLS:C0342543|ICD9:259.1|ICD10:E22.8|Orphanet:759|OMIMPS:176400|SCTID:237816004																		owl:Class
MONDO:0003781	biolink:NamedThing	bronchitis	An acute or chronic inflammatory process affecting the bronchi.	mondoexuq1wtf	chest cold|acute bronchitis|acute bronchitis and bronchiolitis|bronchial infection|chest infection|bronchus inflammation|CI - chest infection|recurrent wheezy bronchitis|inflammation of bronchus|chronic bronchitis											SCTID:32398004|ICD9:490|ICD10:J42|ICD9:491.9|ICD9:491|NCIT:C2911|ICD9:466.0|MESH:D001991|ICD10:J20|CSP:2596-1500|DOID:6132|ICD10:J20.9|UMLS:C0006277|ICD10:J40|COHD:256451|EFO:0009661																		owl:Class
MONDO:0000119	biolink:NamedThing	congenital heart defects, multiple types		mondoexuq1wtf	CHTD					Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease.						DC:0000506																		owl:Class
MONDO:0006597	biolink:NamedThing	photosensitivity disease	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	mondoexuq1wtf	photodermatitides|photosensitization|photodermatitis|disorders, photosensitivity|photodermatosis|disorder, photosensitivity|photosensitivity disorder											EFO:1000752|SCTID:22649008|DOID:3159|MESH:D010787|UMLS:C0031762																		owl:Class
MONDO:0043771	biolink:NamedThing	radiodermatitis	A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.	mondoexuq1wtf	radiation-induced Dermatitides|recall reaction, radiation|dermatitis, radiation-induced|dermatitis radiation|dermatitis, radiation induced|radiation dermatitis|radiodermatitis|radiation-induced dermatitis|Dermatitides, radiation recall|reactions, radiation recall|radiation recall Dermatitides|dermatitis, radiation recall|Dermatitides, radiation-induced|radiation recall reactions|Radiodermatitides|recall reactions, radiation|reaction, radiation recall|radiation recall dermatitis|radiation induced dermatitis|radiation recall reaction											MESH:D011855|NCIT:C3349|SCTID:49084001|EFO:1001840																		owl:Class
MONDO:0013579	biolink:NamedThing	methylmalonate semialdehyde dehydrogenase deficiency		mondoexuq1wtf	methylmalonate semialdehyde dehydrogenase deficiency|MMSDH deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency|MMSDHD|developmental delay due to MMSDH deficiency|developmental delay due to ALDH6A1 deficiency											Orphanet:289307|UMLS:C3279840|ICD10:E71.1|MESH:C566402|OMIM:614105																		owl:Class
MONDO:0044785	biolink:NamedThing	desmoplastic melanoma	A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.	mondoexuq1wtf	desmoplastic melanoma|desmoplastic cutaneous (skin) melanoma											NCIT:C37257|ONCOTREE:DESM																		owl:Class
MONDO:0021537	biolink:NamedThing	undifferentiated carcinoma of nasopharynx	A undifferentiated carcinoma that involves the nasopharynx.	mondoexuq1wtf	nasopharyngeal nonkeratinizing undifferentiated carcinoma|lymphoepithelioma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|nasopharynx undifferentiated carcinoma|undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of nasopharynx|nasopharyngeal lymphoepithelioma|nasopharyngeal undifferentiated carcinoma											SCTID:422541001|NCIT:C8023|UMLS:C0279748																		owl:Class
MONDO:0015459	biolink:NamedThing	nasopharyngeal carcinoma	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.	mondoexuq1wtf	malignant neoplasm of superior wall of nasopharynx|nasopharynx carcinoma|malignant tumor of posterior wall of nasopharynx|squamous cell carcinoma of the nasopharynx|nasopharyngeal throat cancer|carcinoma of the nasopharynx|NPC|malignant neoplasm of roof of nasopharynx|cancer of the nasopharynx|malignant neoplasm of lateral wall of nasopharynx|malignant neoplasm of other specified sites of nasopharynx|malignant neoplasm of posterior wall of nasopharynx|cancer of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|carcinoma of nasopharynx|malignant tumor of anterior wall of nasopharynx|nasopharyngeal carcinoma|malignant neoplasm of nasopharynx|nasopharyngeal cancer|malignant tumor of lateral wall of nasopharynx|malignant nasopharyngeal tumor|malignant neoplasm of nasopharynx (disorder) [ambiguous]|malignant neoplasm of nasopharyngeal wall|malignant neoplasm of anterior wall of nasopharynx											MESH:D00007727|UMLS:C0153396|ICD10:C11|DOID:9261|Orphanet:150|UMLS:C0153394|ICD9:147.0|ICD10:C11.0|MESH:C538339|ICD10:C11.1|MedDRA:10028793|ICD9:147.1|UMLS:C0153393|UMLS:C0153395|ICD10:C11.3|ICD9:147|ICD10:C11.2|ICD9:147.9|ICD9:147.3|SCTID:363398003|ONCOTREE:NPC|ICD9:147.2|UMLS:C3665551|UMLS:CN199582|UMLS:C3647449|ICD10:C11.9|NCIT:C3871|UMLS:C2931822																		owl:Class
MONDO:0017197	biolink:NamedThing	osteopathia striata-pigmentary dermopathy-white forelock syndrome	Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	mondoexuq1wtf	osteopathia striata with pigmentary dermopathy including white forelock|Whyte Murphy syndrome|osteopathia striata associated with familial dermopathy and white forelock|Whyte-Murphy syndrome											MESH:C536054|ICD10:Q77.8|Orphanet:2779|GARD:0005562|UMLS:C2931096																		owl:Class
MONDO:0016788	biolink:NamedThing	genetic hyperferritinemia without iron overload	Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.	mondoexuq1wtf	benign hyperferritinemia											SCTID:766929007|Orphanet:254704																		owl:Class
MONDO:0018652	biolink:NamedThing	biological anomaly without phenotypic characterization		mondoexuq1wtf												Orphanet:447874																		owl:Class
MONDO:0009154	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 5	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.	mondoexuq1wtf	hypothyroidism, congenital, nongoitrous, type 5|NKX2-5 hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous, 5|congenital nongoitrous hypothryoidism 5|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5|congenital nongoitrous hypothyroidism 5|CHNG5											UMLS:C2673630|DOID:0070125|ICD10:E03.1|OMIM:225250|MESH:C567123																		owl:Class
MONDO:0017264	biolink:NamedThing	syndromic recessive X-linked ichthyosis	Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.	mondoexuq1wtf	syndromic RXLI|syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndromic X-linked ichthyosis|syndrome associated with recessive X-linked ichthyosis											ICD10:Q80.1|UMLS:C4274085|SCTID:717041008|Orphanet:281090|UMLS:CN202782																		owl:Class
MONDO:0009156	biolink:NamedThing	ectrodactyly-polydactyly syndrome	A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	ectrodactyly polydactyly|ectrodactyly-polydactyly											Orphanet:1892|UMLS:C1857040|ICD10:Q74.8|GARD:0002068|MESH:C565601|OMIM:225290														https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly				owl:Class
MONDO:0004292	biolink:NamedThing	supraglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.	mondoexuq1wtf	verrucous carcinoma of the supraglottis|supraglottic verrucous carcinoma|supraglottis verrucous carcinoma|verrucous carcinoma of supraglottis|supraglottic part of larynx verrucous carcinoma											DOID:7586|NCIT:C8191|UMLS:C0280331																		owl:Class
MONDO:0007465	biolink:NamedThing	distichiasis with congenital anomalies of the heart and peripheral vasculature		mondoexuq1wtf	distichiasis with congenital anomalies of the heart and peripheral vasculature|distichiasis-congenital heart defects-peripheral vascular anomalies syndrome											MESH:C565092|OMIM:126320|Orphanet:1683|UMLS:C1852062																		owl:Class
MONDO:0002771	biolink:NamedThing	pulmonary fibrosis	Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).	mondoexuq1wtf	pulmonary interstitial fibrosis|fibrosis of lung											DOID:3770|SCTID:51615001|MESH:D011658|NCIT:C26869|UMLS:C0034069																		owl:Class
MONDO:0009982	biolink:NamedThing	retinitis pigmentosa inversa with deafness		mondoexuq1wtf	retinitis pigmentosa inversa with deafness											MESH:C564842|UMLS:C1849405|OMIM:268010																		owl:Class
MONDO:0012015	biolink:NamedThing	nystagmus 3, congenital, autosomal dominant		mondoexuq1wtf	NYS3|NYSTAGMUS 3, congenital, autosomal dominant											OMIM:608345|MESH:C537855|GARD:0009600|UMLS:C1842186																		owl:Class
MONDO:0033363	biolink:NamedThing	developmental and epileptic encephalopathy, 54		mondoexuq1wtf	EIEE54|DEE54|epileptic encephalopathy, early infantile, 54											DOID:0080418|OMIM:617391|UMLS:C4479319																		owl:Class
MONDO:0011584	biolink:NamedThing	Fanconi anemia complementation group D1	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.	mondoexuq1wtf	Fanconi anemia, complementation group D1|FANCD1|Fad1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations|FAD1											OMIM:605724|MESH:C563980|DOID:0111089|NCIT:C125705|Orphanet:319462|SCTID:766707003|UMLS:C1838457																		owl:Class
MONDO:0017891	biolink:NamedThing	inherited renal cancer-predisposing syndrome		mondoexuq1wtf												UMLS:CN203941|Orphanet:319328																		owl:Class
MONDO:0004348	biolink:NamedThing	retinal telangiectasia		mondoexuq1wtf						Consider obsoleting and ceding to HPO						UMLS:C0154835|DOID:7736|ICD9:362.15|SCTID:84884003|HP:0007763																		owl:Class
MONDO:0003902	biolink:NamedThing	brain stem hemangioblastoma	A hemangioblastoma that involves the brainstem.	mondoexuq1wtf	hemangioblastoma of the brain stem|angioblastoma of brain stem|hemangioblastoma of brain stem|brain stem capillary hemangioblastoma|hemangioblastoma of the brainstem|hemangioblastoma of brainstem|angioblastoma of the brain stem|brain stem hemangioblastoma|brainstem angioblastoma|angioblastoma of the brainstem|brain stem angioblastoma|angioblastoma of brainstem|brainstem hemangioblastoma											NCIT:C5147|DOID:6501|UMLS:C1332611																		owl:Class
MONDO:0002328	biolink:NamedThing	intracranial hemangioma	A hemangioma arising from the brain and meninges.	mondoexuq1wtf	hemangioma of the intracranial structure|angioma of intracranial structure|angioma of the intracranial structure|hemangioma of brain|intracranial angioma|brain hemangioma|hemangioma of intracranial structures|intracranial structure hemangioma|hemangioma of intracranial structure|intracranial hemangioma											UMLS:C0154050|COHD:441246|SCTID:93468003|NCIT:C3633|ICD10:D18.02|ICD9:228.02|DOID:2517																		owl:Class
MONDO:0018716	biolink:NamedThing	partially involuting congenital hemangioma	A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion	mondoexuq1wtf	PICH											Orphanet:458785|ICD10:D18.0																		owl:Class
MONDO:0013821	biolink:NamedThing	intellectual disability, autosomal dominant 16	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.	mondoexuq1wtf	mental retardation, autosomal dominant type 16|mental retardation, autosomal dominant 16|autosomal dominant mental retardation 16|SMARCA4 Coffin-Siris syndrome|CSS4|COFFIN-SIRIS syndrome 4|intellectual disability, autosomal dominant 16|autosomal dominant intellectual disability 16|MRD16|intellectual disability, autosomal dominant type 16|Coffin-Siris syndrome caused by mutation in SMARCA4											DOID:0070046|UMLS:C3553249|OMIM:614609																		owl:Class
MONDO:0018209	biolink:NamedThing	Alexander disease type I	Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.	mondoexuq1wtf	AxD type I											ICD10:E75.2|Orphanet:363717|UMLS:CN204729																		owl:Class
MONDO:0043731	biolink:NamedThing	lytic metastatic bone lesion	Dissolution of bone that particularly involves the removal or loss of calcium.	mondoexuq1wtf	osteolytic lesion|osteolysis|Osteolyses|lytic metastatic bone lesion					Editor note: finding in NCIT						EFO:1001821|NCIT:C35371|SCTID:203522001|MESH:D010014																		owl:Class
MONDO:0018431	biolink:NamedThing	cold-induced sweating syndrome - hyperthermia spectrum		mondoexuq1wtf						Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms						Orphanet:401993|ICD10:G90.8|UMLS:CN226150																		owl:Class
MONDO:0044301	biolink:NamedThing	aortic aneurysm, familial thoracic 11, susceptibility to		mondoexuq1wtf	AAT11|aortic aneurysm, familial thoracic 11, susceptibility to											OMIM:617349																		owl:Class
MONDO:0013586	biolink:NamedThing	Chitotriosidase deficiency		mondoexuq1wtf	CHITOTRIOSIDASE deficiency|CHITD|Chitotriosidase deficiency											UMLS:C3279902|OMIM:614122																		owl:Class
MONDO:0001916	biolink:NamedThing	gastrointestinal tularemia	A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.	mondoexuq1wtf	intestinal tularaemia|enteric tularemia											DOID:14239|ICD9:021.8|ICD10:A21.3|ICD9:021.1																		owl:Class
MONDO:0024893	biolink:NamedThing	toxocara canis infection (canine roundworms)		mondoexuq1wtf	Human infection with the larvae of canine or feline roundworms|Toxocara catis infection (feline roundworms)											UMLS:C2930846|MESH:C531834																		owl:Class
MONDO:0005988	biolink:NamedThing	toxocariasis	A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.	mondoexuq1wtf	Toxocara infectious disease|Toxocara infection|infection by Toxascaris|Toxocara disease or disorder|visceral larva migrans|Toxocara caused disease or disorder											DOID:9790|EFO:0007516|Orphanet:3343|GARD:0007788|NCIT:C34758|ICD9:128.0|MedDRA:10044269|ICD10:B83.0|UMLS:C0040553|MESH:D014120|SCTID:406619001																		owl:Class
MONDO:0015924	biolink:NamedThing	pulmonary arterial hypertension	Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).	mondoexuq1wtf	PPH|idiopathic pulmonary hypertension|PAH											UMLS:CN200519|UMLS:C2973725|GARD:0007501|SCTID:11399002|MedDRA:10064911|Orphanet:182090																		owl:Class
MONDO:0004525	biolink:NamedThing	scabies	A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.	mondoexuq1wtf	Sarcoptes scabiei infectious disease|sarcoptic itch|Sarcoptes scabiei caused disease or disorder|Sarcoptes scabiei disease or disorder|infestation by Sarcoptes scabiei var hominis|infestation by Sarcoptes scabiei											SCTID:128869009|MESH:D012532|UMLS:C0036262|ICD9:133.0|COHD:140949|DOID:8295|NCIT:C34998|ICD10:B86																		owl:Class
MONDO:0014796	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 23	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.	mondoexuq1wtf	VPS13C young-onset Parkinson disease|autosomal recessive early-onset Parkinson disease 23|young-onset Parkinson disease caused by mutation in VPS13C|autosomal recessive early-onset Parkinson's disease 23|Parkinson disease 23, autosomal recessive early-onset|autosomal recessive early-onset Parksinson disease type 23|PARK23											ICD10:G20|UMLS:C4225186|OMIM:616840|DOID:0060896																		owl:Class
MONDO:0018471	biolink:NamedThing	generalized eruptive keratoacanthoma	Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.	mondoexuq1wtf	generalized eruptive keratoacanthomas of Grzybowski|GEKA|Grzybowski syndrome											Orphanet:411777|UMLS:C0345985|ICD10:L85.8|SCTID:254664008|UMLS:CN237455																		owl:Class
MONDO:0002527	biolink:NamedThing	keratoacanthoma	A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.	mondoexuq1wtf												MESH:D007636|NCIT:C3146|DOID:3149|UMLS:C0022572|ICDO:8071/1|SCTID:254662007																		owl:Class
MONDO:0023038	biolink:NamedThing	eccentrochondrodysplasia		mondoexuq1wtf												GARD:0006314														https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia				owl:Class
MONDO:0003534	biolink:NamedThing	papillary thymic adenocarcinoma	A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.	mondoexuq1wtf	thymus papillary adenocarcinoma|thymic papillary adenocarcinoma|Thymus papillary carcinoma|papillary carcinoma of Thymus|thymic papillary carcinoma|papillary carcinoma of the Thymus											DOID:5595|UMLS:C1335327|NCIT:C27937																		owl:Class
MONDO:0018822	biolink:NamedThing	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).	mondoexuq1wtf												Orphanet:480898|UMLS:CN776946																		owl:Class
MONDO:0008351	biolink:NamedThing	pupil, egg-shaped		mondoexuq1wtf	ovoid pupils|pupil, egg-shaped|egg shaped pupils											MESH:C566731|GARD:0008291|OMIM:178800														https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils				owl:Class
MONDO:0011370	biolink:NamedThing	Stargardt disease 4	Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.	mondoexuq1wtf	PROM1 Stargardt disease|Stargardt disease 4|STGD4|Stargardt disease type 4|Stargardt disease caused by mutation in PROM1											OMIM:603786|UMLS:C1863534|MESH:C535521																		owl:Class
MONDO:0015863	biolink:NamedThing	polyembryoma	Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.	mondoexuq1wtf	gonadal polyembryoma											GARD:0009621|UMLS:C0334518|Orphanet:180229|NCIT:C66776														https://rarediseases.info.nih.gov/diseases/9621/polyembryoma				owl:Class
MONDO:0000602	biolink:NamedThing	autoimmune disease of blood	A hypersensitivity reaction type II disease that involves the blood.	mondoexuq1wtf	blood autoimmune disease|blood hypersensitivity reaction type II disease											DOID:0060050																		owl:Class
MONDO:0018996	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	mondoexuq1wtf	spinocerebellar ataxia with axonal neuropathy type 2|SCAN2|ataxia-oculomotor apraxia type 2|SCAR1|spinocerebellar ataxia, autosomal recessive type 1|ataxia-ocular apraxia 2|AOA2|SCAN 2|ataxia with oculomotor apraxia type 2|autosomal recessive spinocerebellar ataxia-1|spinocerebellar ataxia, autosomal recessive 1|ataxia-oculomotor apraxia 2					See https://github.com/Orphanet/ORDO/issues/11						DOID:0050755|SCTID:725408001|GARD:0012860|MESH:C537308|UMLS:C1853761|Orphanet:64753|ICD10:G60.2|UMLS:CN205441|OMIM:606002																		owl:Class
MONDO:0010247	biolink:NamedThing	X-linked cerebral adrenoleukodystrophy	A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.	mondoexuq1wtf	bronze Schilder disease|adrenomyeloneuropathy|ALD|melanodermic leukodystrophy|adrenoleukodystrophy|childhood cerebral ALD|X-linked cerebral adrenoleukodystrophy|adrenoleukodystrophy childhood cerebral form|Siemerling-Creutzfeldt disease|childhood-onset cerebral X-linked adrenoleukodystrophy|Addison disease and cerebral sclerosis|adrenoleukodystrophy X-linked cerebral form|ALD childhood cerebral form											UMLS:CN036464|UMLS:CN199389|GARD:0009412|Orphanet:139396|ICD10:E71.3														https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy				owl:Class
MONDO:0024643	biolink:NamedThing	myocardial disorder	A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.	mondoexuq1wtf	myocardium disease|disorder of myocardium|disease of myocardium|myocardial disease|myocardial disorder|disorder of heart muscle|myocardium disease or disorder|disease or disorder of myocardium											NCIT:C35544|SCTID:57809008																		owl:Class
MONDO:0001621	biolink:NamedThing	tick-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	mondoexuq1wtf	Relapsing fever, tick-borne											ICD10:A68.1|NCIT:C34976|SCTID:10301003|DOID:13036|ICD9:087.1|UMLS:C0035022|COHD:438963																		owl:Class
MONDO:0010818	biolink:NamedThing	retinitis pigmentosa 12	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.	mondoexuq1wtf	RP12|RP 12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa 12|RP with or without Pprpe|retinitis pigmentosa type 12|CRB1 retinitis pigmentosa|RP with or without preserved Paraarteriole retinal pigment epithelium|retinitis pigmentosa caused by mutation in CRB1											ICD10:H35.5|GARD:0010376|UMLS:C1838647|MESH:C563999|OMIM:600105|DOID:0110358														https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12				owl:Class
MONDO:0006245	biolink:NamedThing	hidradenocarcinoma	A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.	mondoexuq1wtf	clear cell eccrine carcinoma|hidradenocarcinoma											GARD:0010439|NCIT:C54664|EFO:1000295|ICDO:8402/3																		owl:Class
MONDO:0005004	biolink:NamedThing	clear cell adenocarcinoma	A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.	mondoexuq1wtf	Mesonephroma, malignant|Mesonephroma, malignant (morphologic abnormality)|Mesonephroid clear cell carcinoma|Mesonephroid clear cell adenocarcinoma|clear cell adenocarcinoma|adenocarcinoma, clear cell, malignant|clear cell carcinoma|clear cell adenocarcinoma (morphologic abnormality)|water-clear cell adenocarcinoma (morphologic abnormality)|Wolffian duct neoplasm|malignant Mesonephroma|clear cell adenocarcinoma NOS (morphologic abnormality)|water-clear cell adenocarcinoma|water-clear cell carcinoma|Mesonephroma NOS (morphologic abnormality)											DOID:4468|UMLS:C0206681|NCIT:C3766|ICDO:8310/3|MESH:D018262|EFO:0000348																		owl:Class
MONDO:0017877	biolink:NamedThing	Brazilian hemorrhagic fever	Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.	mondoexuq1wtf	Sabia hemorrhagic fever											SCTID:240524001|Orphanet:319239|UMLS:C0343633|ICD10:A96.8|DOID:0050197																		owl:Class
MONDO:0017317	biolink:NamedThing	phakomatosis pigmentokeratotica	Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.	mondoexuq1wtf	organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies|Phacomatosis pigmentokeratotica											UMLS:C2931658|SCTID:723455009|GARD:0004311|ICD10:Q85.8|MESH:C537893|Orphanet:2874																		owl:Class
MONDO:0017128	biolink:NamedThing	inherited digestive tract tumor		mondoexuq1wtf	genetic digestive tract tumor											Orphanet:271835|UMLS:CN202527																		owl:Class
MONDO:0006762	biolink:NamedThing	freemartinism	A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism).	mondoexuq1wtf												UMLS:C0016697|DOID:4671|EFO:1000939|MESH:D005611																		owl:Class
MONDO:0015497	biolink:NamedThing	hypoglossia/aglossia		mondoexuq1wtf												ICD10:Q38.3|Orphanet:156212																		owl:Class
MONDO:0015227	biolink:NamedThing	non-syndromic limb malformation		mondoexuq1wtf	nonsyndromic limb malformation|isolated limb malformation											Orphanet:109011																		owl:Class
MONDO:0010686	biolink:NamedThing	N syndrome	N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.	mondoexuq1wtf	intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia|N syndrome|NSX											Orphanet:2608|ICD10:Q87.8|OMIM:310465|SCTID:723410002|GARD:0003902|DOID:0050769|UMLS:C2936859|MESH:C536108														https://rarediseases.info.nih.gov/diseases/3902/n-syndrome				owl:Class
MONDO:0002528	biolink:NamedThing	synovium neoplasm	A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.	mondoexuq1wtf	synovial neoplasm|synovial membrane of synovial joint neoplasm (disease)|synovial neoplasm NOS (morphologic abnormality)|tumor of synovium|neoplasm of synovial membrane of synovial joint|tumor of synovial membrane of synovial joint|synovial neoplasm (morphologic abnormality)|neoplasm of synovium|tumor of the synovium|neoplasm of the synovium|synovial membrane of synovial joint neoplasm|synovial membrane of synovial joint tumor|synovial tumor											UMLS:C0476203|NCIT:C8964|DOID:315																		owl:Class
MONDO:0008075	biolink:NamedThing	neurofibromatosis type 3	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	mondoexuq1wtf	Schwannomatosis|neurilemmomatosis congenital cutaneous|neurilemmomatosis, congenital cutaneous|congenital cutaneous neurilemmomatosis|NF3|Neurinomatosis|schwannomatosis|neurilemmomatosis|neurinoma											OMIMPS:162091|Orphanet:93921|UMLS:C1335929|ICD10:Q85.0|NCIT:C6557|ICD9:237.73|DOID:3204|GARD:0004768|ICDO:9560/1|ICD10:Q85.03																		owl:Class
MONDO:0002836	biolink:NamedThing	urethra transitional cell carcinoma	A transitional cell carcinoma that arises from the male or female urethra.	mondoexuq1wtf	transitional cell carcinoma of urethra|UCU|urethral transitional cell carcinoma|urethral urothelial cancer|transitional cell carcinoma of the urethra|urethral urothelial carcinoma|urethra transitional cell carcinoma											NCIT:C6166|ONCOTREE:UCU|DOID:4013|UMLS:C0863015																		owl:Class
MONDO:0001089	biolink:NamedThing	acute inferolateral myocardial infarction		mondoexuq1wtf	acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall					Editor note: TODO: positional superclass						SCTID:65547006|ICD9:410.21|DOID:10649|UMLS:C0340308|ICD9:410.22|ICD9:410.20																		owl:Class
MONDO:0021244	biolink:NamedThing	submandibular gland neoplasm	A neoplasm (disease) that involves the submandibular gland.	mondoexuq1wtf	submandibular gland neoplasm (disease)|tumor of submandibular gland|neoplasm of submandibular gland|tumor of the submandibular gland|submandibular gland tumor|neoplasm of the submandibular gland											SCTID:254464000|NCIT:C3393|EFO:1001853|MESH:D013365|UMLS:C0038558																		owl:Class
MONDO:0001597	biolink:NamedThing	submandibular gland disease	A disease involving the submandibular gland.	mondoexuq1wtf	submandibular gland disease or disorder|submandibular gland disease|disease of submandibular gland|disorder of submandibular gland|disease or disorder of submandibular gland											DOID:12897|UMLS:C0038557|MESH:D013364																		owl:Class
MONDO:0010904	biolink:NamedThing	setting-Sun phenomenon, familial benign		mondoexuq1wtf	setting-Sun phenomenon, familial benign											UMLS:C1833577|OMIM:600598|MESH:C563470																		owl:Class
MONDO:0018050	biolink:NamedThing	tibial aplasia-ectrodactyly syndrome	Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	mondoexuq1wtf	SHFM associated with aplasia of long bones|split hand/foot malformation with long bone deficiency|SHFLD|aplasia of tibia with split-hand/split-foot deformity|ectrodactyly with aplasia of long bones|aplasia of tibia with ectrodactyly|SHFLD syndrome|tibial hemimelia-ectrodactyly syndrome|TH-SHFM|split-hand/foot malformation with long bone deficiency|split-hand/foot malformation associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|tibial hemimelia with split hand/foot malformation											Orphanet:3329|GARD:0001369|ICD10:Q73.8														https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia				owl:Class
MONDO:0012465	biolink:NamedThing	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.	mondoexuq1wtf	glycosylphosphatidylinositol biosynthesis defect 1|PIGM-CDG|congenital disorder of glycosylation due to PIGM deficiency|GPI deficiency|glycosylphosphatidylinositol deficiency|GPID											ICD10:E88.8|UMLS:C4510605|SCTID:724344004|OMIM:610293|Orphanet:83639|UMLS:C1853205|GARD:0009965														https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency				owl:Class
MONDO:0000819	biolink:NamedThing	anencephaly	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.	mondoexuq1wtf	anencephalus											ICD10:00.0|DOID:0060668|NCIT:C84560																		owl:Class
MONDO:0012315	biolink:NamedThing	distal 10q deletion syndrome	Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	mondoexuq1wtf	chromosome 10q26 deletion syndrome|telomeric deletion 10q|distal monosomy 10q|deletion 10q|partial monosomy 10q|terminal chromosome 10q26 deletion syndrome|distal deletion 10q|monosomy 10q|monosomy 10qter|terminal chromosome 10Q26 deletion syndrome|distal monosomy type 10q|10q deletion|10q monosomy|chromosome 10q deletion											Orphanet:96148|DOID:0060390|OMIM:609625|ICD10:Q93.5|UMLS:C2674937|UMLS:C4305277|SCTID:718687003|GARD:0003711|MESH:C567182																		owl:Class
MONDO:0004116	biolink:NamedThing	esophageal small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	esophageal small cell NEC|esophageal small cell carcinoma|Oat cell carcinoma of esophagus|small cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell neuroendocrine carcinoma|esophageal Oat cell carcinoma|Oat cell carcinoma of the esophagus|esophagus small cell carcinoma|esophagus Oat cell carcinoma|small cell carcinoma, esophagus											DOID:7134|UMLS:C1112474|NCIT:C6762																		owl:Class
MONDO:0006092	biolink:NamedThing	appendix villous adenoma	An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.	mondoexuq1wtf	villous adenoma of appendix|villous adenoma of the appendix|appendix villous adenoma|vermiform appendix villous adenoma											NCIT:C5512|UMLS:C1332329|EFO:1000093																		owl:Class
MONDO:0006088	biolink:NamedThing	appendix adenoma	A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.	mondoexuq1wtf	appendix adenoma|vermiform appendix adenoma											UMLS:C1706829|NCIT:C43550|EFO:1000089																		owl:Class
MONDO:0014552	biolink:NamedThing	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	mondoexuq1wtf	Meckel syndrome 12|Meckel syndrome type 12|MKS12											Orphanet:439897|UMLS:C4015701|OMIM:616258																		owl:Class
MONDO:0042605	biolink:NamedThing	Y chromosome infertility due to DAZ1 deletion		mondoexuq1wtf	Y chromosome microdeletions|Y chromosome infertility|DAZ|deleted in azoospermia|male sterility due to Y-chromosome deletions											HGNC:2682|GARD:0000185																		owl:Class
MONDO:0009910	biolink:NamedThing	Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.	mondoexuq1wtf	progeroid syndrome, neonatal|progeroid syndrome neonatal|neonatal progeroid syndrome|Wiedemann Rautenstrauch syndrome|Wiedemann-Rautenstrauch syndrome											GARD:0000330|NCIT:C121565|OMIM:264090|UMLS:C0406586|MESH:C536423|ICD9:259.8|Orphanet:3455|ICD10:E34.8|SCTID:238874008																		owl:Class
MONDO:0013673	biolink:NamedThing	Wolfram-like syndrome	Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	mondoexuq1wtf	WFSL|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation|Wolfram-like syndrome, autosomal dominant											Orphanet:411590|MESH:C565631|SCTID:734022008|UMLS:C3280358|DOID:0080584|ICD10:E13.8|EFO:0009063|OMIM:614296|UMLS:C4518338																		owl:Class
CL:0002457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014388	biolink:NamedThing	familial median cleft of the upper and lower lips	Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	mondoexuq1wtf	OFC14|orofacial cleft 14											ICD10:Q36.1|Orphanet:401942|OMIM:615892																		owl:Class
MONDO:0010981	biolink:NamedThing	absent tibia-polydactyly-arachnoid cyst syndrome	Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.	mondoexuq1wtf	Holmes Collins syndrome|Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|tibia absent polydactyly arachnoid cyst|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies											Orphanet:3328|OMIM:601027|GARD:0005210|MESH:C563403|SCTID:733068001														https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst				owl:Class
MONDO:0008318	biolink:NamedThing	Proteus syndrome	Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.	mondoexuq1wtf	Proteus syndrome|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|hemihypertrophy and macrocephaly|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Wiedemann's syndrome|Elattoproteus syndrome											SCTID:23150001|NCIT:C85032|OMIM:176920|UMLS:C0085261|MONDO:0023663|ICD9:759.89|MESH:D016715|Orphanet:744|DOID:13482|GARD:0007475|ICD10:Q87.3																		owl:Class
MONDO:0010776	biolink:NamedThing	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial		mondoexuq1wtf	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial											OMIM:500005|UMLS:C1839021|MESH:C564024																		owl:Class
MONDO:0012565	biolink:NamedThing	Fanconi anemia complementation group N	Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.	mondoexuq1wtf	Fanconi anemia, complementation group N|Fanconi anemia caused by mutation in PALB2|PALB2 Fanconi anemia|FANCN|Fanconi Anemia, complementation group type N|Fanconi anemia complementation group type N											OMIM:610832|MESH:C563657|DOID:0111094|UMLS:C1835817																		owl:Class
MONDO:0015661	biolink:NamedThing	dextrocardia	A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.	mondoexuq1wtf	dextrocardia (disease)|dextrocardia|heart predominantly in right hemithorax		dextrocardia (disease)									MESH:D003914|ICD10:Q24.0|HP:0001651|ICD9:746.87|GARD:0001827|MONDO:0004823|NCIT:C84669|MedDRA:10012592|COHD:4100815|SCTID:27637000|Orphanet:1666|DOID:9565																		owl:Class
MONDO:0028226	biolink:NamedThing	autosomal recessive severe congenital neutropenia		mondoexuq1wtf												Orphanet:439849																		owl:Class
MONDO:0018542	biolink:NamedThing	severe congenital neutropenia		mondoexuq1wtf	SCN|neutropenia, severe congenital											MedDRA:10052210|DOID:0050590|SCTID:89655007|Orphanet:42738|ICD10:D70|OMIMPS:202700|ICD9:288.01																		owl:Class
MONDO:0003368	biolink:NamedThing	prostate leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of prostate gland|prostate gland leiomyosarcoma|leiomyosarcoma of prostate|leiomyosarcoma of the prostate|prostate leiomyosarcoma											UMLS:C1335511|DOID:5282|NCIT:C5526																		owl:Class
MONDO:0016395	biolink:NamedThing	foveal hypoplasia-presenile cataract syndrome		mondoexuq1wtf	O'Donnell-Pappas syndrome											MESH:C537858|UMLS:C2931644|ICD10:H26.0|Orphanet:2253																		owl:Class
MONDO:0013433	biolink:NamedThing	primary sclerosing cholangitis	Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.	mondoexuq1wtf	PSC|cholangitis, primary sclerosing											OMIM:613806|UMLS:C0566602|MedDRA:10036732|GARD:0001280|SCTID:197441003|DOID:0060643|ICD10:K83.0|Orphanet:171																		owl:Class
MONDO:0017326	biolink:NamedThing	infective dermatitis associated with HTLV-1	A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.	mondoexuq1wtf	infective dermatitis associated with human T-lymphotropic virus type 1|IDH|isocitrate dehydrogenase Gene family|IDH Gene family|infective dermatitis associated with human T-lymphotropic virus type I											UMLS:CN202966|Orphanet:289347|ICD10:L30.3|NCIT:C129260																		owl:Class
MONDO:0022018	biolink:NamedThing	Borrone di Rocco Crovato syndrome		mondoexuq1wtf	Borrone dermatocardioskeletal syndrome											MESH:C536577|GARD:0000939|UMLS:C1859406														https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome				owl:Class
MONDO:0020476	biolink:NamedThing	mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	mondoexuq1wtf	MTLE-HS											Orphanet:99701																		owl:Class
MONDO:0003059	biolink:NamedThing	bile duct cancer	A malignant neoplasm involving the bile duct	mondoexuq1wtf	bile duct cancer|cancer of bile duct|malignant neoplasm of the extrahepatic bile duct|bile duct tumor|malignant bile duct neoplasm|malignant neoplasm of bile duct|Ca extrahepatic bile ducts											ICD9:156.1|ICD10:C24.0|DOID:4606																		owl:Class
MONDO:0000722	biolink:NamedThing	non-syndromic synpolydactyly	A synpolydactyly that is not part of a larger syndrome.	mondoexuq1wtf	synpolydactyly|nonsyndromic synpolydactyly|isolated synpolydactyly											DOID:0060242																		owl:Class
MONDO:0011374	biolink:NamedThing	hypercholesterolemia, familial, 4	An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.	mondoexuq1wtf	familial autosomal recessive hypercholesterolemia|FHCB1, formerly|ARH|FHCB2|FHCB1|hypercholesterolemia, autosomal recessive, 2, formerly|hypercholesterolemia, autosomal recessive, 2|FHCB2, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|ARH2|ARH1|autosomal recessive hypercholesterolemia 2|autosomal recessive hypercholesterolemia 1|hypercholesterolemia, autosomal recessive|hypercholesterolemia, autosomal recessive, 1											NCIT:C128114|OMIM:603813|UMLS:C1863512|ICD10:E78.0|DOID:0090105|MESH:C566331																		owl:Class
MONDO:0018328	biolink:NamedThing	homozygous familial hypercholesterolemia		mondoexuq1wtf	HoFH											SCTID:238078005|ICD10:E78.0|Orphanet:391665																		owl:Class
MONDO:0007969	biolink:NamedThing	Melkersson-Rosenthal syndrome	The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.	mondoexuq1wtf	cheilitis Granulomatosa|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal|Mros|MRS|Melkersson syndrome|Melkersson's syndrome|Melkersson-Rosenthal syndrome											Orphanet:2483|GARD:0007010|OMIM:155900|EFO:1001039|DOID:1761|MedDRA:10027166|UMLS:C0025235|MESH:D008556|ICD10:G51.2|NCIT:C84886														https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome				owl:Class
MONDO:0005492	biolink:NamedThing	urticaria	A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.	mondoexuq1wtf	urticaria|Urticarias|hives|urticaria (disease)		urticaria (disease)									HP:0001025|COHD:139900|ICD9:708|DOID:1555|ICD9:708.8|EFO:0005531|NCIT:C3432|UMLS:C0042109|ICD9:708.9|SCTID:126485001|ICD10:L50|MESH:D014581																		owl:Class
MONDO:0014141	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14		mondoexuq1wtf	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|MDDGB14|muscular dystrophy, congenital, GMPPB-related|congenital muscular dystrophy-GMPPB related											UMLS:C3809221|OMIM:615351																		owl:Class
MONDO:0006267	biolink:NamedThing	liver cavernous hemangioma	A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.	mondoexuq1wtf	cavernous hemangioma of liver|liver cavernous hemangioma											EFO:1000322|NCIT:C96839|UMLS:C3282904																		owl:Class
MONDO:0010079	biolink:NamedThing	Canavan disease	Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.	mondoexuq1wtf	Acy2 deficiency|ACY2 deficiency|aminoacylase 2 deficiency|Canavan-Van Bogaert-Bertrand disease|spongy degeneration of central nervous system|Canavan disease|spongy Degeneration of central nervous system|Von Bogaert-Bertrand disease|spongy degeneration of the brain|aspartoacylase deficiency|Asp deficiency|Canavan-VAN Bogaert-Bertrand disease|spongy degeneration of the central nervous system|Aspa deficiency											ICD10:E75.2|SCTID:80544005|Orphanet:141|OMIM:271900|GARD:0005984|DOID:3613|MESH:D017825|MedDRA:10067608|NCIT:C84611|UMLS:C0206307														https://rarediseases.info.nih.gov/diseases/5984/canavan-disease				owl:Class
MONDO:0014422	biolink:NamedThing	vesicoureteral reflux 8	Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.	mondoexuq1wtf	vesicoureteral reflux 8|vesicoureteral reflux type 8|vesicoureteral reflux (disease) caused by mutation in TNXB|TNXB vesicoureteral reflux (disease)|VUR8											OMIM:615963|UMLS:C4014831																		owl:Class
MONDO:0007474	biolink:NamedThing	duodenal ulcer due to antral G-cell hyperfunction		mondoexuq1wtf	hypergastrinemic, hyperpepsinogenemic duodenal ulcer|duodenal ulcer due to antral G-cell hyperfunction											OMIM:126840|MESH:C535721|GARD:0009743|UMLS:C1852009														https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction				owl:Class
MONDO:0015439	biolink:NamedThing	ring chromosome 4	Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.	mondoexuq1wtf	syndrome r(4)|r(4) syndrome|Ring 4|Ring chromosome type 4|Ring chromosome 4 syndrome|chromosome 4 ring|R4|rose cluster 4											ICD10:Q93.2|NCIT:C121983|Orphanet:1447|SCTID:81678004|GARD:0001339|MESH:C537636														https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4				owl:Class
MONDO:0018170	biolink:NamedThing	idiopathic nephrotic syndrome	Nephrotic syndrome for which no cause has been identified.	mondoexuq1wtf												Orphanet:357502|NCIT:C122796|UMLS:C3496337																		owl:Class
MONDO:0001059	biolink:NamedThing	gastric lymphoma	An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	mondoexuq1wtf	lymphoma of the stomach|gastric lymphoma|primary gastric lymphoma|lymphoma of stomach|stomach lymphoma											UMLS:C0349532|NCIT:C4636|ICD9:202.83|DOID:10540|SCTID:276811008																		owl:Class
MONDO:0021292	biolink:NamedThing	carcinoma in situ of gastric body	A in situ carcinoma that involves the body of stomach.	mondoexuq1wtf	body of stomach in situ carcinoma|carcinoma in situ of the body of the stomach|gastric body carcinoma in situ aJCC v6 and v7|stage 0 gastric body carcinoma|body of stomach carcinoma in situ|gastric body carcinoma in situ|carcinoma in situ of body of stomach|carcinoma in situ of the gastric body|stage 0 body of stomach carcinoma											SCTID:92549006|UMLS:C0345805|NCIT:C4430																		owl:Class
MONDO:0017983	biolink:NamedThing	humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	mondoexuq1wtf	humero-radio-ulnar fusion											ICD10:Q74.0|Orphanet:3266																		owl:Class
MONDO:0017429	biolink:NamedThing	joint formation defects		mondoexuq1wtf												Orphanet:294949																		owl:Class
MONDO:0003095	biolink:NamedThing	laryngeal mucoepidermoid carcinoma	A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.	mondoexuq1wtf	laryngeal throat mucoepidermoid cancer|larynx mucoepidermoid carcinoma|laryngeal mucoepidermoid carcinoma|mucoepidermoid carcinoma of larynx|mucoepidermoid carcinoma of the larynx											NCIT:C9463|DOID:4688|UMLS:C1334373																		owl:Class
MONDO:0021652	biolink:NamedThing	diffuse type adenocarcinoma	An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.	mondoexuq1wtf	diffuse type adenocarcinoma|diffuse type carcinoma											NCIT:C4127|ICDO:8145/3																		owl:Class
MONDO:0009327	biolink:NamedThing	heart, malformation of		mondoexuq1wtf	heart, malformation of											OMIM:234750|OMIM:140500																		owl:Class
MONDO:0006636	biolink:NamedThing	Actinobacillus infectious disease	Infections with bacteria of the genus actinobacillus.	mondoexuq1wtf	infections, Actinobacillus|Actinobacillus caused disease or disorder|Actinobacillus infection|Actinobacillus disease or disorder|infection, Actinobacillus											EFO:1000793|MESH:D000189																		owl:Class
MONDO:0001499	biolink:NamedThing	retroperitoneal lymphoma	A lymphoma that involves the retroperitoneal space.	mondoexuq1wtf	retroperitoneal space lymphoma|retroperitoneal lymphoma|primary retroperitoneal lymphoma|lymphoma of retroperitoneal space											NCIT:C7353|DOID:12339|UMLS:C1335779|SCTID:422853008																		owl:Class
MONDO:0005941	biolink:NamedThing	retroperitoneal cancer	A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.	mondoexuq1wtf	malignant retroperitoneal space neoplasm|malignant neoplasm of retroperitoneum and peritoneum|neoplasm of retroperitoneum|malignant retroperitoneal cancer|cancer of retroperitoneal space|retroperitoneal neoplasm|malignant neoplasm of retroperitoneal space|neoplasm of the retroperitoneum|malignant neoplasm of retroperitoneum|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal neoplasm|retroperitoneal space cancer|tumor of retroperitoneum											ICD9:158.0|NCIT:C3537|SCTID:126872008|MESH:D012186|ICD10:C48.0|ICD10:C48|DOID:5875|ICD9:158|EFO:0007466																		owl:Class
MONDO:0003890	biolink:NamedThing	infiltrating bladder urothelial carcinoma	An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.	mondoexuq1wtf	invasive bladder urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|invasive transitional cell carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma											NCIT:C27885|UMLS:C1334281|DOID:6477																		owl:Class
MONDO:0040678	biolink:NamedThing	infiltrating urothelial carcinoma	A invasive carcinoma that involves the urothelium.	mondoexuq1wtf	infiltrating urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary tract											NCIT:C39853|UMLS:C1512751																		owl:Class
MONDO:0000598	biolink:NamedThing	aphasia	A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.	mondoexuq1wtf												DOID:0060046|COHD:440424|ICD10:R47.01																		owl:Class
MONDO:0004750	biolink:NamedThing	language disorder	A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.	mondoexuq1wtf												MESH:D007806|NCIT:C97155|HP:0002463|ICD10:F80.9|EFO:0005425|DOID:93																		owl:Class
MONDO:0002707	biolink:NamedThing	breast mucinous carcinoma	An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.	mondoexuq1wtf	breast invasive mixed mucinous carcinoma|mucinous carcinoma of breast|colloid carcinoma of the breast|invasive mucinous breast carcinoma|mucinous breast cancer|colloid breast carcinoma|mucinous carcinoma of the breast|breast mucinous carcinoma|colloid carcinoma of breast|infiltrating colloid breast carcinoma|infiltrating mucinous breast carcinoma|mucinous breast carcinoma|invasive colloid breast carcinoma											UMLS:C1334807|NCIT:C9131|SCTID:444712000|DOID:3610|ONCOTREE:IMMC																		owl:Class
MONDO:0036688	biolink:NamedThing	rhabdomyoma	A benign mesenchymal tumor arising from skeletal or cardiac muscle.	mondoexuq1wtf	Rhabdomyomatous neoplasm|rhabdomyoma, benign|rhabdomyoma											UMLS:C0035411|NCIT:C3358|ICDO:8900/0|SCTID:402877008|MESH:D012207																		owl:Class
MONDO:0013665	biolink:NamedThing	epilepsy, juvenile myoclonic, susceptibility to, 9		mondoexuq1wtf	epilepsy, juvenile myoclonic, susceptibility to, 9|EJM9											DOID:0111328|OMIM:614280																		owl:Class
MONDO:0010473	biolink:NamedThing	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.	mondoexuq1wtf	mental retardation, X-linked, syndromic 32|MRXS32|mental retardation, X-linked, syndromic type 32|intellectual disability, X-linked, syndromic type 32|intellectual disability, X-linked, syndromic 32											UMLS:C3550913|Orphanet:324410|OMIM:300886|DOID:0060828																		owl:Class
MONDO:0017311	biolink:NamedThing	rare disease with thoracic aortic aneurysm and aortic dissection		mondoexuq1wtf												UMLS:CN202889|Orphanet:285014|ICD10:I71.2|ICD10:I71.1																		owl:Class
MONDO:0016686	biolink:NamedThing	diffuse astrocytoma	A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.	mondoexuq1wtf	protoplasmic astrocytoma (histologic variant)|gemistocytic astrocytoma (histologic variant)|diffuse astrocytoma|grade II astrocytic tumor|grade II astrocytic neoplasm|fibrillary astrocytoma (histologic variant)|low-grade diffuse astrocytoma|grade II astrocytoma|astrocytoma, diffuse|WHO grade II astrocytoma|astrocytoma, diffuse, malignant											GARD:0005907|ONCOTREE:DASTR|Orphanet:251595|UMLS:C0280785|ICD10:C71.9|NCIT:C7173																		owl:Class
MONDO:0021639	biolink:NamedThing	grade II glioma	A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.	mondoexuq1wtf	grade II glioma|WHO grade II glioma											NCIT:C132505|UMLS:C4330050																		owl:Class
MONDO:0008760	biolink:NamedThing	beta-ketothiolase deficiency	Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.	mondoexuq1wtf	peroxisomal thiolase deficiency|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|3-Ktd deficiency|alpha-methylacetoaceticaciduria|beta-ketothiolase deficiency|T2 deficiency|3-oxothiolase deficiency|ALPHA-methylacetoacetic aciduria|Beta ketothiolase deficiency|Mat deficiency|mitochondrial acetoacetyl-CoA thiolase deficiency|3-ketothiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|mitochondrial acetoacetyl-Coa thiolase deficiency|2-methyl-3-hydroxybutyricacidemia|BKT|Alpha methylacetoacetic aciduria|Alpha-methyl-acetoacetyl-CoA thiolase deficiency											DOID:14723|ICD10:E71.1|NCIT:C98841|MESH:C535434|GARD:0000872|Orphanet:134|OMIM:203750																		owl:Class
MONDO:0019229	biolink:NamedThing	inborn disorder of ketolysis	An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process.	mondoexuq1wtf	inborn error of ketone body catabolic process|inborn ketone body catabolic process disorder|rare inborn error of ketone body catabolic process|disorder of ketolysis											ICD10:E71.3|UMLS:CN227594|Orphanet:79183																		owl:Class
MONDO:0005176	biolink:NamedThing	benign insulitis	A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.	mondoexuq1wtf						Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis.						EFO:0002502|Wikipedia:Insulitis|PMID:20545565																		owl:Class
MONDO:0015997	biolink:NamedThing	ectopia lentis-chorioretinal dystrophy-myopia syndrome	Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.	mondoexuq1wtf	noble Bass Sherman syndrome|noble-Bass-Sherman syndrome|ectopia lentis chorioretinal dystrophy myopia											MESH:C536124|ICD10:Q15.8|Orphanet:1884|GARD:0003999|SCTID:722437006																		owl:Class
MONDO:0100125	biolink:NamedThing	hallucinogen-persisting perception disorder	A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.	mondoexuq1wtf	hallucinogen abuse with hallucinogen persisting perception disorder											ICD10:F16.183																		owl:Class
MONDO:0009680	biolink:NamedThing	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	mondoexuq1wtf	benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|familial congenital muscular dystrophy with gonadal dysgenesis|muscular dystrophy, congenital, with infantile cataract and hypogonadism|muscular dystrophy, congenital, infantile with cataract and hypogonadism|Bassoe syndrome											GARD:0003842|OMIM:254000|GARD:0000835|Orphanet:1875|UMLS:C2931578|UMLS:C1850864																		owl:Class
MONDO:0020353	biolink:NamedThing	von Hippel anomaly		mondoexuq1wtf												Orphanet:98941|ICD10:Q13.4																		owl:Class
MONDO:0011414	biolink:NamedThing	Peters anomaly	Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.	mondoexuq1wtf	Peters congenital glaucoma|anterior segment dysgenesis 5|ASGD5|Peters anomaly|Peters anomaly (disease)		Peters anomaly (disease)									GARD:0007377|MESH:C537884|Orphanet:708|OMIM:604229|ICD9:743.44|SCTID:204153003|MedDRA:10059202|ICD10:Q13.4|HP:0000659|DOID:0060673																		owl:Class
MONDO:0007066	biolink:NamedThing	adenosine triphosphatase deficiency, anemia due to		mondoexuq1wtf	adenosine triphosphatase deficiency anemia|adenosine triphosphatase deficiency, anemia due to|anemia due to adenosine triphosphatase deficiency											SCTID:725057008|UMLS:C1863225|GARD:0000548|Orphanet:1044|OMIM:102800|MESH:C566311														https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency				owl:Class
MONDO:0016999	biolink:NamedThing	X chromosome number anomaly		mondoexuq1wtf												Orphanet:263714																		owl:Class
MONDO:0012856	biolink:NamedThing	Birk-Barel syndrome	Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).	mondoexuq1wtf	mental retardation with hypotonia and Facial Dysmorphism|Birk Barel mental retardation dysmorphism syndrome|BIRK-Barel mental retardation dysmorphism syndrome|Birk-Barel syndrome|intellectual disability-hypotonia-facial dysmorphism syndrome|intellectual disability, Birk-Barel type|intellectual disability with hypotonia and Facial Dysmorphism|BIRK-Barel intellectual disability dysmorphism syndrome|Birk Barel intellectual disability dysmorphism syndrome											MESH:C567357|OMIM:612292|UMLS:C2676770|GARD:0010358|Orphanet:166108|SCTID:764861005|ICD10:Q87.8|DOID:0050675														https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome				owl:Class
MONDO:0015816	biolink:NamedThing	indolent primary cutaneous T-cell lymphoma		mondoexuq1wtf												Orphanet:178548																		owl:Class
MONDO:0015758	biolink:NamedThing	primary cutaneous T-cell lymphoma		mondoexuq1wtf												GARD:0006226|Orphanet:171901|ICD10:C84.8|MedDRA:10011677																		owl:Class
MONDO:0004685	biolink:NamedThing	Waldeyer's ring cancer	A malignant neoplasm involving the tonsillar ring.	mondoexuq1wtf	Waldeyer ring cancer|malignant neoplasm of Waldeyer's ring|malignant tonsillar ring neoplasm|malignant tumor of Waldeyer's ring|tonsillar ring cancer|malignant neoplasm of tonsillar ring|cancer of tonsillar ring											ICD9:149.1|DOID:8937|ICD10:C14.2|UMLS:C0153406|SCTID:187716008																		owl:Class
MONDO:0014606	biolink:NamedThing	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	mondoexuq1wtf	MRD37|intellectual disability, autosomal dominant 37|WHITE-Sutton syndrome|autosomal dominant intellectual disability 37|mental retardation, autosomal dominant type 37|mental retardation, autosomal dominant 37|White-Sutton syndrome|intellectual disability, autosomal dominant type 37|WHSUS|autosomal dominant mental retardation 37											DOID:0070067|Orphanet:468678|OMIM:616364|EFO:0009079																		owl:Class
MONDO:0007208	biolink:NamedThing	Boomerang dysplasia	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.	mondoexuq1wtf	dwarfism with short, bowed, rigid limbs and characteristic facies|Boomerang dysplasia|Boomerang-like skeletal dysplasia											OMIM:112310|ICD9:756.9|ICD10:Q87.1|MESH:C536573|GARD:0000933|SCTID:254054000|UMLS:C0432201|Orphanet:1263|DOID:0050680														https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia				owl:Class
MONDO:0001542	biolink:NamedThing	common peroneal nerve lesion	A peripheral nerve lesion that involves the common fibular nerve.	mondoexuq1wtf	peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion											ICD10:G57.30|SCTID:399107008|COHD:437262|UMLS:C0270909|ICD9:355.3|ICD10:G57.3|DOID:12527																		owl:Class
MONDO:0004797	biolink:NamedThing	mononeuritis of lower limb	A mononeuritis simplex that involves the hindlimb.	mondoexuq1wtf	hindlimb mononeuritis simplex|mononeuritis simplex of hindlimb											ICD9:355|DOID:9473|ICD9:355.8																		owl:Class
MONDO:0012879	biolink:NamedThing	schizophrenia 14	A schizophrenia that has material basis in a mutation on chromosome 2q32.1.	mondoexuq1wtf	schizophrenia susceptibility locus, chromosome 2Q32-related|schizophrenia 14|schizophrenia type 14|SCZD14|Sczd14											DOID:0070090|OMIM:612361|UMLS:C2677614																		owl:Class
MONDO:0011572	biolink:NamedThing	type 1 diabetes mellitus 18	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 18|IDDM18|insulin-dependent diabetes mellitus 18											OMIM:605598|ICD10:E10|DOID:0110755|UMLS:C1854125|MESH:C565315																		owl:Class
MONDO:0032827	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 16		mondoexuq1wtf	EIG16|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16											OMIM:618596																		owl:Class
MONDO:0011615	biolink:NamedThing	East Texas bleeding disorder		mondoexuq1wtf	Bdet|bleeding disorder, EAST Texas type											Orphanet:391320|ICD10:D68.2|MESH:C565275|UMLS:C1853831|OMIM:605913																		owl:Class
MONDO:0007511	biolink:NamedThing	ectodermal dysplasia, trichoodontoonychial type	Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	mondoexuq1wtf	ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type											OMIM:129510|GARD:0002055|ICD10:Q82.4|UMLS:C1851858|Orphanet:1818|MESH:C565068|SCTID:734018003														https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type				owl:Class
MONDO:0016687	biolink:NamedThing	protoplasmic astrocytoma	A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)	mondoexuq1wtf	protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytic tumor|protoplasmic astrocytoma											ICDO:9410/3|DOID:7008|ICD10:C71.9|UMLS:C0334580|Orphanet:251598|NCIT:C4320																		owl:Class
MONDO:0008406	biolink:NamedThing	autosomal recessive Emery-Dreifuss muscular dystrophy	Autosomal recessive form of Emery-Dreifuss muscular dystrophy.	mondoexuq1wtf	Emery-Dreifuss muscular dystrophy, autosomal recessive|EDMD3											Orphanet:98855|ICD10:G71.0																		owl:Class
MONDO:0007226	biolink:NamedThing	brachydactyly-nystagmus-cerebellar ataxia syndrome	Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.	mondoexuq1wtf	brachydactyly - nystagmus - cerebellar ataxia|Biemond syndrome type 1|brachydactyly, nystagmus and cerebellar ataxia|Biemond syndrome|brachydactyly-NYSTAGMUS-cerebellar ataxia					Editor note: check GARD						GARD:0000971|ICD10:Q87.8|GARD:0000881|ICD9:759.89|SCTID:205828009|Orphanet:1246|OMIM:113400|MESH:C566192														https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1				owl:Class
MONDO:0019195	biolink:NamedThing	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.	mondoexuq1wtf	Hereditary inclusion body myopathy type 3|hereditary inclusion body myopathy type 3|Inclusion body myopathy autosomal dominant|HIBM3|inclusion body myopathy type 3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|IBM3											SCTID:724349009|ICD10:G71.8|GARD:0009494|Orphanet:79091|UMLS:CN205775																		owl:Class
MONDO:0016177	biolink:NamedThing	systemic inflammatory disease associated with an acquired peripheral neuropathy		mondoexuq1wtf												UMLS:CN200929|Orphanet:209007																		owl:Class
MONDO:0003587	biolink:NamedThing	pediatric liposarcoma	A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	mondoexuq1wtf	pediatric liposarcoma|childhood liposarcoma|liposarcoma											UMLS:C0279984|NCIT:C8091|DOID:5695																		owl:Class
MONDO:0016613	biolink:NamedThing	APC-related attenuated familial adenomatous polyposis		mondoexuq1wtf	APC-related AFAP|APC-related attenuated FAP|APC-related attenuated familial polyposis coli					Editor note: TODO add gene						ICD10:D12.6|UMLS:CN201818|Orphanet:247806																		owl:Class
MONDO:0017212	biolink:NamedThing	paraneoplastic uveitis		mondoexuq1wtf												Orphanet:279928																		owl:Class
MONDO:0018187	biolink:NamedThing	genetic syndromic Pierre Robin syndrome		mondoexuq1wtf												Orphanet:363294|UMLS:CN204685																		owl:Class
MONDO:0018579	biolink:NamedThing	disorder of ketone body transport		mondoexuq1wtf	disorder of keton body transport|disorder of ketone body transport											Orphanet:438072|UMLS:CN237600																		owl:Class
MONDO:0009773	biolink:NamedThing	odonto-onycho-dermal dysplasia	A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.	mondoexuq1wtf	OODD|ectodermal dysplasia|odontoonychodermal dysplasia											Orphanet:2721|ICD10:Q82.4|GARD:0004054|UMLS:C0796093|OMIM:257980|SCTID:403762003|MESH:C537742														https://github.com/monarch-initiative/mondo/issues/3293				owl:Class
MONDO:0009126	biolink:NamedThing	duodenal atresia	Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.	mondoexuq1wtf	duodenal atresia|atresia of duodenum|duodenal atresia (disease)|duodenal stenosis|congenital duodenal atresia|congenital atresia of duodenum		duodenal atresia (disease)									OMIM:223400|SCTID:51118003|UMLS:C0266174|MESH:C535720|DOID:0080216|HP:0002247|MedDRA:10013812|GARD:0000054|ICD9:751.1|NCIT:C101025|Orphanet:1203|ICD10:Q41.0																		owl:Class
MONDO:0020807	biolink:NamedThing	ovarian sertoli-stromal cell tumor	A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.	mondoexuq1wtf	Ovarian Sertoli-Stromal Tumor|Ovarian Sertoli-Stromal Cell Tumor											NCIT:C39966																		owl:Class
MONDO:0006229	biolink:NamedThing	gastric small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	gastric small cell carcinoma|small cell carcinoma of the stomach|small cell carcinoma of stomach|gastric small cell neuroendocrine carcinoma|Oat cell carcinoma of stomach|gastric Oat cell carcinoma|stomach small cell carcinoma|Oat cell carcinoma of the stomach|STSC											DOID:6552|UMLS:C1333788|ONCOTREE:STSC|NCIT:C6764|EFO:1000277																		owl:Class
MONDO:0014239	biolink:NamedThing	testicular anomalies with or without congenital heart disease		mondoexuq1wtf	TACHD|testicular anomalies with or without congenital heart disease											OMIM:615542|UMLS:C3809858																		owl:Class
MONDO:0001914	biolink:NamedThing	scleromalacia perforans	A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.	mondoexuq1wtf												UMLS:C0155354|ICD9:379.04|DOID:14230|ICD10:H15.05|SCTID:26664005																		owl:Class
MONDO:0040699	biolink:NamedThing	necrotizing scleritis	A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.	mondoexuq1wtf												SCTID:95797003|ICD9:379.09																		owl:Class
MONDO:0009231	biolink:NamedThing	fibular hypoplasia and complex brachydactyly		mondoexuq1wtf	fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome|fibular hypoplasia and complex brachydactyly											OMIM:228900|ICD10:Q73.8|Orphanet:2639|GARD:0009879|SCTID:715474004|UMLS:C1856738|MESH:C537931|KEGG:H00467|DOID:0050790														https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly				owl:Class
MONDO:0016255	biolink:NamedThing	uterine corpus mixed epithelial and mesenchymal neoplasm	A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.	mondoexuq1wtf	body of uterus mixed neoplasm|malignant mixed epithelial and mesenchymal tumor of corpus uteri|uterine corpus mixed epithelial and mesenchymal tumor|uterine corpus mixed epithelial and mesenchymal neoplasm|mixed epithelial and mesenchymal cancer of corpus uteri					Editor note: Consider placing Orphanet equiv with subclass (malignant form)						ICD10:C54.1|ICD10:C54.2|UMLS:C1519858|ICD10:C54.0|ICD10:C54.8|ICD10:C54.3|Orphanet:213589|NCIT:C40181																		owl:Class
MONDO:0021254	biolink:NamedThing	corpus uteri neoplasm	A neoplasm (disease) that involves the body of uterus.	mondoexuq1wtf	neoplasm of the uterine body|uterine corpus neoplasm|tumor of the uterine corpus|neoplasm of uterine body|tumor of body of uterus|uterine corpus tumor|neoplasm of the uterine corpus|body of uterus neoplasm|uterine body tumor|tumor of uterine body|tumor of corpus uteri|tumor of uterine corpus|neoplasm of the corpus uteri|neoplasm of corpus uteri|body of uterus tumor|tumor of the uterine body|neoplasm of the body of uterus|neoplasm of uterine corpus|uterine body neoplasm|body of uterus neoplasm (disease)|tumor of the corpus uteri|corpus uteri tumor|neoplasm of body of uterus										MONDO:0021256|MONDO:0021255	UMLS:C1263777|NCIT:C6300|SCTID:126909004																		owl:Class
MONDO:0012962	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 2	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.	mondoexuq1wtf	end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in EPO|MVCD2|EPO microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 2|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 2											OMIM:612623																		owl:Class
MONDO:0010906	biolink:NamedThing	orofacial cleft 11	Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.	mondoexuq1wtf	BMP4 orofacial cleft|cleft Lip, congenital Healed|congenital Healed cleft lip|orofacial cleft 11|orofacial cleft type 11|orofacial cleft caused by mutation in BMP4|cleft lip with or without cleft palate, nonsyndromic, 11|OFC11											DOID:0080404|OMIM:600625|UMLS:C2677434																		owl:Class
MONDO:0011830	biolink:NamedThing	lissencephaly due to LIS1 mutation	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	mondoexuq1wtf	LIS1|PAFAH1B1-related lissencephaly|lissencephaly 1|lissencephaly sequence, isolated|lissencephaly type 1|lissencephaly, classic|subcortical band heterotopia|subcortical laminar heterotopia											UMLS:CN228917|OMIM:607432|Orphanet:95232|ICD10:Q04.3																		owl:Class
MONDO:0015146	biolink:NamedThing	classic lissencephaly		mondoexuq1wtf	lissencephaly sequence isolated|lissencephaly type 1|ILS|lissencephaly classic											ICD10:Q04.3|GARD:0005049|Orphanet:102009																		owl:Class
MONDO:0008118	biolink:NamedThing	odontomatosis-aortae esophagus stenosis syndrome	Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	mondoexuq1wtf	odontoma dysphagia syndrome|boder syndrome|Odontomatosis (multiple odontomas) with dysphagia|odontoma-dysphagia syndrome											OMIM:164330|SCTID:716180009|MESH:C537740|UMLS:C1834013|GARD:0000238|Orphanet:2724																		owl:Class
MONDO:0009148	biolink:NamedThing	Rosselli-Gulienetti syndrome	A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene	mondoexuq1wtf	Rosselli-Gulienetti syndrome											UMLS:C0796139|Orphanet:90339|OMIM:225000|MESH:C563117														https://github.com/monarch-initiative/mondo/issues/432				owl:Class
MONDO:0016722	biolink:NamedThing	pineoblastoma	Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.	mondoexuq1wtf	pineal gland primitive neuroectodermal tumor|pineoblastoma|pineal PNET|pineal gland primitive neuroectodermal neoplasm|pineoblastoma (WHO grade IV)|PNET of pineal gland|primitive neuroectodermal tumor of pineal gland|pineoblastoma, malignant|primitive neuroectodermal tumor of the pineal gland|PNET of the pineal gland|pineal primitive neuroectodermal neoplasm|pineal primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of pineal gland|pineal gland PNET|primitive neuroectodermal neoplasm of the pineal gland											ICD10:C75.3|ICDO:9362/3|ONCOTREE:PBL|DOID:1664|EFO:1000475|Orphanet:251909|NCIT:C9344|GARD:0009369|MedDRA:10050487|UMLS:C0205898														https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma				owl:Class
MONDO:0000405	biolink:NamedThing	anal canal cancer	A malignant neoplasm involving the anal canal	mondoexuq1wtf	anal canal cancer|cancer of anal canal|malignant neoplasm of anal canal|malignant anal canal neoplasm											UMLS:C0153445|ICD9:154.2|DOID:0050688|SCTID:363352004																		owl:Class
MONDO:0021573	biolink:NamedThing	oocyte maturation defect 2	Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.	mondoexuq1wtf	oocyte maturation defect 2|OOMD2|TUBB8 inherited oocyte maturation defect|inherited oocyte maturation defect caused by mutation in TUBB8											UMLS:C4225210|OMIM:616780																		owl:Class
MONDO:0015034	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type A	Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.	mondoexuq1wtf												UMLS:CN228900|Orphanet:100011|ICD10:Q04.3																		owl:Class
MONDO:0019450	biolink:NamedThing	lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.	mondoexuq1wtf	LCH											SCTID:715817007|UMLS:C4274995|Orphanet:86823|ICD10:Q04.3																		owl:Class
MONDO:0007127	biolink:NamedThing	diffuse idiopathic skeletal hyperostosis	This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.	mondoexuq1wtf	dish|Forestier disease|Forestier's disease|ankylosing vertebral hyperostosis with tylosis|ankylosing vertebral hyperostosis|disseminated idiopathic skeletal hyperostosis|diffuse idiopathic skeletal hyperostosis											ICD9:721.6|GARD:0000842|ICD10:M48.1|COHD:77961|ICD9:733.99|MESH:D004057|EFO:0007236|UMLS:C0020498|NCIT:C84671|SCTID:31487001|OMIM:106400|DOID:6652|Orphanet:2206																		owl:Class
MONDO:0016843	biolink:NamedThing	20q13.33 microdeletion syndrome	20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	mondoexuq1wtf	Del(20)(q13.33)|monosomy 20q13.33											Orphanet:261311|ICD10:Q93.5|SCTID:733520002|UMLS:CN202183|UMLS:C4518823																		owl:Class
MONDO:0008728	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.	mondoexuq1wtf	congenital adrenal hyperplasia 1|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|21-hydroxylase deficiency|adrenal hyperplasia 3|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|21 hydroxylase deficiency|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|classic 21-OHD CAH|CYP21 deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|21-OHD											GARD:0005757|GARD:0012665|MESH:C535979|ICD10:E25.0|Orphanet:90794|NCIT:C131087|SCTID:124221007|UMLS:C4273964|SCTID:717261006|OMIM:201910																		owl:Class
MONDO:0021681	biolink:NamedThing	sexually transmitted disease	A Disease due to or propagated by sexual contact.	mondoexuq1wtf	disease (VD), venereal|sexually Transmitted infections|STI|venereal disease (VD)|disease, sexually Transmitted|STIs|VD|Transmitted infection, sexually|infection, sexually Transmitted|diseases, sexually Transmitted|disease, venereal|venereal disease|infections, sexually Transmitted|VD, venereal disease|STD|sexually Transmitted infection|sexually Transmitted disorder|STDs|sexually transmitted disease|diseases, venereal|Transmitted infections, sexually|venereal diseases											ICD10:A50.A64|MESH:D012749|SCTID:8098009|UMLS:C0036916|NCIT:C3365|ICD9:099.9|ICD9:099.8																		owl:Class
MONDO:0017980	biolink:NamedThing	syngnathia multiple anomalies		mondoexuq1wtf	syngnathia-multiple anomalies syndrome											Orphanet:3262|GARD:0005092														https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies				owl:Class
MONDO:0009027	biolink:NamedThing	cramps, familial adolescent		mondoexuq1wtf	cramps, familial adolescent											OMIM:218050																		owl:Class
MONDO:0017865	biolink:NamedThing	congenital pulmonary valve stenosis	Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).	mondoexuq1wtf	valvular pulmonary stenosis|valvar pulmonary stenosis|heart valve pulmonary stenosis|valvate pulmonary stenosis											Orphanet:3189|GARD:0004596|MedDRA:10037451|ICD10:Q22.1|COHD:313005																		owl:Class
MONDO:0020287	biolink:NamedThing	pulmonary artery or pulmonary branch anomaly		mondoexuq1wtf												Orphanet:98719																		owl:Class
MONDO:0018559	biolink:NamedThing	fetal lower urinary tract obstruction		mondoexuq1wtf	LUTO											UMLS:C4305545|Orphanet:435365|SCTID:717752005																		owl:Class
MONDO:0013695	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 6	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.	mondoexuq1wtf	TGFBR2 hereditary nonpolyposis colon cancer|colon cancer, hereditary nonpolyposis, type 6|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|colorectal cancer, hereditary nonpolyposis, type 6|HNPCC6											DOID:0070273|UMLS:C1860896|OMIM:614331|MESH:C566039																		owl:Class
MONDO:0016581	biolink:NamedThing	conotruncal heart malformations	Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).	mondoexuq1wtf	Double-outlet right ventricle|truncus arteriosus communis|CTHM|interrupted aortic Arch|conotruncal cardiac defects|conotruncal heart malformations|conotruncal anomaly face syndrome|Taussig-Bing syndrome or defect|persistent truncus arteriosus											SCTID:218728005|Orphanet:2445|ICD9:747.11|GARD:0008189|UMLS:C1857586|OMIM:217095																		owl:Class
MONDO:0002899	biolink:NamedThing	differentiating neuroblastoma	A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.	mondoexuq1wtf	differentiating neuroblastoma											NCIT:C42048|UMLS:C1511934|DOID:4160																		owl:Class
MONDO:0018443	biolink:NamedThing	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		mondoexuq1wtf												ICD10:Q87.8|Orphanet:404451|UMLS:CN226185																		owl:Class
MONDO:0008238	biolink:NamedThing	phosphatase, acid, of tissues		mondoexuq1wtf	lysosomal acid phosphatase|phosphatase, acid, of tissues|Acp3--Alpha polypeptide											OMIM:171660																		owl:Class
MONDO:0000845	biolink:NamedThing	fibrous dysplasia	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.	mondoexuq1wtf	fibrous dysplasia of bone											SCTID:254145001|ICD9:733.29|Orphanet:249|SCTID:10623005|DOID:0080031|NCIT:C34609|GARD:0006444|MedDRA:10016664|MESH:D005357|ICD10:Q78.1																		owl:Class
MONDO:0008800	biolink:NamedThing	microphthalmia with limb anomalies	Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.	mondoexuq1wtf	ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome|anophthalmos with limb anomalies|MLA|Ophthalmoacromelic syndrome|anophthalmia-syndactyly|microphthalmia with limb anomalies|anophthalmia-syndactyly syndrome|OAS|anophthalmos-syndactyly|anophthalmia Waardenburg syndrome											DOID:0060861|OMIM:206920|SCTID:703403003|Orphanet:1106|ICD10:Q87.2|ICD9:755.8|MESH:C537769|GARD:0000722																		owl:Class
MONDO:0100262	biolink:NamedThing	peroxisome biogenesis disorder due to PEX5 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.	mondoexuq1wtf	PEX5 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX5 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0003627	biolink:NamedThing	rheumatic pulmonary valve disease	A rheumatologic disorder that involves the pulmonary valve.	mondoexuq1wtf	pulmonary valve rheumatologic disorder|rheumatologic disorder of pulmonary valve|rheumatic disease of pulmonary valve|rheumatic pulmonary incompetence											COHD:317296|ICD10:I09.89|DOID:5748|SCTID:18687009|UMLS:C0155579|ICD9:397.1																		owl:Class
MONDO:0014736	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2Z	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.	mondoexuq1wtf	autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation|Charcot-Marie-Tooth neuropathy, type 2Z|Charcot-Marie-Tooth neuropathy type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|MORC2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|CMT2Z|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease, axonal, type 2z|autosomal dominant Charcot-Marie-Tooth disease type 2Z											OMIM:616688|DOID:0110181|UMLS:C4225243|Orphanet:466768																		owl:Class
MONDO:0008988	biolink:NamedThing	citrullinemia type I	Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).	mondoexuq1wtf	citrullinemia 1|citrullinemia type 1|CTNL1|citrullinemia, classic|classic citrullinemia|argininosuccinic acid synthetase deficiency|citrullinemia, type 1|CTLN1|Citrullinuria|argininosuccinate synthase deficiency|argininosuccinic acid synthase deficiency|ASS deficiency|argininosuccinate synthetase deficiency											NCIT:C150601|DOID:0070340|Orphanet:247525|SCTID:398680004|GARD:0006114|OMIM:215700|MedDRA:10058298|ICD10:E72.2																		owl:Class
MONDO:0009726	biolink:NamedThing	proteosome-associated autoinflammatory syndrome		mondoexuq1wtf	autoinflammation-lipodystrophy-dermatosis syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|nodular erythema digital changes|proteasome disability syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome|NNS|ALDD syndrome|Nakajo syndrome|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome|amyotrophy fat tissue anomaly|CANDLE syndrome|secondary hypertrophic osteoperiostosis with pernio|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|PRAAS|Nakajo Nishimura syndrome|JMP syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|ALDD|amyotrophy-fat tissue anomaly syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|proteasome-associated autoinflammatory syndrome											Orphanet:324999|GARD:0003916|GARD:0010811|Orphanet:2615|DOID:0050553|OMIMPS:256040|SCTID:702449004|GARD:0010988|ICD9:709.8|MESH:C538334|Orphanet:325004|UMLS:CN204109|UMLS:CN202195|GARD:0003917|Orphanet:324977|ICD10:L98.8														https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome|https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature				owl:Class
MONDO:0002070	biolink:NamedThing	ventricular septal defect	The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.	mondoexuq1wtf	VSD|interventricular septal defect|ventricular septal abnormality|ventricular septal defect|ventricular septal defect (disease)|ventricular septal defects|heart septal defects, ventricular		ventricular septal defect (disease)									SCTID:30288003|HP:0001629|NCIT:C84506|MESH:D006345|ICD10:Q21.0|OMIMPS:614429|GARD:0007853|COHD:434462|ICD9:745.4|DOID:1657																		owl:Class
MONDO:0002480	biolink:NamedThing	endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	mondoexuq1wtf	endometrioid tumor of the female reproductive system|endometrioid tumor|female reproductive endometrioid neoplasm|endometrioid neoplasm|endometrioid neoplasm of female reproductive system|female reproductive endometrioid cancer|endometrioid neoplasm of the female reproductive system|endometrioid tumor of female reproductive system|endometrioid tumor (morphologic abnormality)|female reproductive endometrioid tumor											NCIT:C7113|UMLS:C0474809|EFO:0009118|DOID:3001																		owl:Class
MONDO:0009677	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2C	Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.	mondoexuq1wtf	deficiency of sarcoglycan gamma|Dmda|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|severe childhood autosomal recessive muscular dystrophy North African type|autosomal recessive Duchenne-like muscular dystrophy type 1|DMDA1|Duchenne-like muscular dystrophy, autosomal recessive, type 1|muscular dystrophy, Duchenne-like|gamma-sarcoglycanopathy|SGCG autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|LGMD2C|limb-girdle muscular dystrophy, type 2C|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|Maghrebian myopathy|sarcoglycan, gamma, deficiency of|Adhalin deficiency, secondary|SCARMD|muscular dystrophy, limb-girdle, type 2C|severe childhood autosomal recessive muscular dystrophy, North African type											OMIM:253700|ICD10:G71.0|DOID:0110277|UMLS:C0410173|MESH:C535900|Orphanet:353|GARD:0002429																		owl:Class
MONDO:0044919	biolink:NamedThing	malignant renal pelvis neoplasm	A primary or metastatic malignant neoplasm that affects the renal pelvis.	mondoexuq1wtf	malignant tumor of renal pelvis|malignant tumor of the renal pelvis|malignant neoplasm of renal pelvis|renal pelvis cancer|malignant neoplasm of the renal pelvis|cancer of renal pelvis|malignant renal pelvis neoplasm|malignant renal pelvis tumor											NCIT:C7525																		owl:Class
MONDO:0003719	biolink:NamedThing	renal pelvis neoplasm	A neoplasm (disease) that involves the renal pelvis.	mondoexuq1wtf	renal pelvis neoplasm|renal pelvis neoplasm (disease)|tumor of the kidney pelvis|renal pelvis tumor|kidney pelvis neoplasm|neoplasm of kidney pelvis|tumor of renal pelvis|kidney pelvis tumor|neoplasm of renal pelvis|neoplasm of the kidney pelvis|tumor of kidney pelvis|neoplasm of the renal pelvis|tumor of the renal pelvis											UMLS:C0346260|NCIT:C8404|DOID:5977|ICD9:239.5|SCTID:126881002																		owl:Class
MONDO:0020226	biolink:NamedThing	chromosomal anomaly with cataract		mondoexuq1wtf												Orphanet:98642																		owl:Class
MONDO:0004984	biolink:NamedThing	basal-like breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.	mondoexuq1wtf	basal-like breast carcinoma|basal-like breast cancer|basal-like subtype of breast carcinoma											NCIT:C53558|UMLS:C3642347|EFO:0000281																		owl:Class
MONDO:0005494	biolink:NamedThing	triple-negative breast carcinoma	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	mondoexuq1wtf	triple-receptor negative breast cancer|triple-negative breast carcinoma|triple-negative breast cancer											UMLS:C3539878|NCIT:C71732|EFO:0005537|MESH:D064726|DOID:0060081|SCTID:706970001																		owl:Class
MONDO:0021655	biolink:NamedThing	secondary catabolic mucinosis of skin		mondoexuq1wtf												ICD9:701.8|SCTID:402723003|UMLS:C1274173																		owl:Class
MONDO:0010330	biolink:NamedThing	primary ciliary dyskinesia-retinitis pigmentosa syndrome	Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.	mondoexuq1wtf	retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness											UMLS:C2749137|OMIM:300455|MESH:C567595|Orphanet:247522																		owl:Class
MONDO:0007084	biolink:NamedThing	familial focal alopecia		mondoexuq1wtf	alopecia, familial focal|ALPF											OMIM:104110|MESH:C566301|UMLS:C1863092																		owl:Class
MONDO:0016231	biolink:NamedThing	capillary malformation		mondoexuq1wtf	rare capillary malformation|congenital malformation of capillary											Orphanet:211247|SCTID:234118009																		owl:Class
MONDO:0009261	biolink:NamedThing	GM1 gangliosidosis type 2	GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.	mondoexuq1wtf	gangliosidosis generalized GM1 juvenile type|late-infantile GM1 gangliosidosis|juvenile GM1 gangliosidosis|gangliosidosis, generalized GM1, type 2|gangliosidosis, generalized GM1, juvenile type|gangliosidosis generalized GM1 type 2|GM1-gangliosidosis, type 2|GM1-gangliosidosis, type II|gangliosidosis, generalized GM1, late-infantile type											OMIM:230600|SCTID:18756002|ICD10:E75.1|GARD:0010126|Orphanet:79256|DOID:0080501														https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2				owl:Class
MONDO:0004281	biolink:NamedThing	vulvar eccrine porocarcinoma	An eccrine porocarcinoma that arises from the sweat glands in the vulva.	mondoexuq1wtf	vulvar eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|mammalian vulva eccrine porocarcinoma											UMLS:C1520081|NCIT:C40306|DOID:7565																		owl:Class
MONDO:0015607	biolink:NamedThing	partial chromosome Y deletion	Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.	mondoexuq1wtf	Y-chromosome microdeletions|partial deletion of chromosome Y|partial deletion of Y|partial deletion of Y chromosome short arm|partial deletion of the long arm of the Y chromosome|Male sterility due to chromosome Y deletion											HGNC:11311|Orphanet:1646|ICD10:Q98.6|SCTID:717158001|MESH:C536297|GARD:0004230																		owl:Class
MONDO:0011287	biolink:NamedThing	craniosynostosis-anal anomalies-porokeratosis syndrome	Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	mondoexuq1wtf	craniosynostosis, anal anomalies, and porokeratosis|Cap syndrome|CAP syndrome|CDAGS syndrome|craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations											GARD:0009506|OMIM:603116|MESH:C536789|SCTID:720812002|ICD10:Q87.8|Orphanet:85199																		owl:Class
MONDO:0001347	biolink:NamedThing	facioscapulohumeral muscular dystrophy	An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.	mondoexuq1wtf	FSH dystrophy|Landouzy-Dejerine myopathy|Landouzy-Dejerine muscular dystrophy|Landouzy Dejerine muscular dystrophy|FSHD|muscular dystrophy, Landouzy-Dejerine|facioscapulohumeral myopathy|facioscapulohumeral muscular dystrophy|facioscapulohumeral dystrophy											Orphanet:269|SCTID:399091004|DOID:11727|ICD10:G71.0|MedDRA:10064087|MESH:D020391|NCIT:C84704																		owl:Class
MONDO:0018697	biolink:NamedThing	1p35.2 microdeletion syndrome		mondoexuq1wtf	monosomy 1p35.2|Del(1)(p35.2)|deletion 1p35.2											Orphanet:456298|ICD10:Q93.5|UMLS:CN237766																		owl:Class
MONDO:0010727	biolink:NamedThing	Russell-silver syndrome, X-linked		mondoexuq1wtf	Partington syndrome|Russell-silver syndrome, X-linked|Russell-Silver-like syndrome with skin pigmentation											SCTID:702412005|ICD9:758.81|OMIM:312780																		owl:Class
MONDO:0008907	biolink:NamedThing	PMM2-CDG	PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type Ia|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|congenital disorder of glycosylation, type Ia|CDG syndrome type Ia|Jaeken syndrome|CDG-IA|congenital disorder of glycosylation type 1a|congenital disorder of glycosylation type Ia|phosphomannomutase 2 deficiency|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|PMM2-CDG (CDG-Ia)|CDG 1A|carbohydrate-deficient glycoprotein syndrome type 1A|CDG1A|carbohydrate-deficient glycoprotein syndrome, type Ia											DOID:0080552|Orphanet:79318|ICD10:E77.8|SCTID:459063003|OMIM:212065|GARD:0009826|NCIT:C126868|MESH:C535739|UMLS:C0349653																		owl:Class
MONDO:0008375	biolink:NamedThing	retinal detachment	An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.	mondoexuq1wtf	retina, detached|retinal detachment|detached retina											SCTID_2010_1_31:42059000|NCIT:C26874|SCTID:42059000|ICD10:H33.2|DOID:5327|ICD9:362.40|SCTID_2010_1_31:193347002|COHD:378414|OMIM:180050|MESH:D012163|ICD9:361.9|SCTID_2010_1_31:155103005|ICD9:361.89|EFO:0005773|UMLS:C0035305																		owl:Class
MONDO:0018500	biolink:NamedThing	cutaneous larva migrans	Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.	mondoexuq1wtf	dew itch|CLM|creeping eruption|ground itch											GARD:0001629|MESH:D007815|ICD9:126.9|Orphanet:423717|SCTID:19362000|ICD10:B76.9														https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans				owl:Class
MONDO:0020022	biolink:NamedThing	central nervous system malformation		mondoexuq1wtf												Orphanet:98044|MESH:D009421																		owl:Class
MONDO:0014291	biolink:NamedThing	autosomal dominant nonsyndromic deafness 54	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.	mondoexuq1wtf	autosomal dominant deafness 54|autosomal dominant nonsyndromic deafness type 54|deafness, autosomal dominant 54|DFNA54											ICD10:H90.3|DOID:0110580|OMIM:615649																		owl:Class
MONDO:0008426	biolink:NamedThing	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	mondoexuq1wtf	Shprintzen-Goldberg craniosynostosis syndrome|Shprintzen-Goldberg marfanoid syndrome|Marfanoid disorder with craniosynostosis type 1|Marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|Marfanoid disorder with craniosynostosis, type 1|Marfanoid-craniosynostosis syndrome|SGS											Orphanet:2462|OMIM:182212|GARD:0004861|UMLS:C1321551|NCIT:C124840|ICD10:Q87.8|SCTID:719069008																		owl:Class
MONDO:0019970	biolink:NamedThing	Sinding-Larsen-Johansson disease	Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.	mondoexuq1wtf	aseptic necrosis of patella|Osteochondrosis of patella											UMLS:CN206897|Orphanet:97337|ICD10:M92.4|MedDRA:10063585																		owl:Class
MONDO:0010636	biolink:NamedThing	Kallmann syndrome with spastic paraplegia		mondoexuq1wtf	spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia											UMLS:C1839911|MESH:C536873|OMIM:308750																		owl:Class
MONDO:0003588	biolink:NamedThing	larynx liposarcoma	A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.	mondoexuq1wtf	liposarcoma of larynx|larynx liposarcoma|laryngeal liposarcoma|lip larynx sarcoma|liposarcoma of the larynx											NCIT:C6021|UMLS:C1334372|DOID:5696																		owl:Class
MONDO:0002448	biolink:NamedThing	laryngeal sarcoma	A rare malignant soft tissue neoplasm that arises from the larynx.	mondoexuq1wtf	sarcoma of the larynx|sarcoma of larynx|laryngeal sarcoma|larynx sarcoma											DOID:2877|NCIT:C6020|UMLS:C1334377																		owl:Class
MONDO:0024474	biolink:NamedThing	intraepithelial neoplasia	A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).	mondoexuq1wtf	intraepithelial neoplasm|intraepithelial neoplasia|epithelial dysplasia											NCIT:C8366																		owl:Class
MONDO:0015734	biolink:NamedThing	rectal duplication	Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.	mondoexuq1wtf												Orphanet:171220|SCTID:725910009|ICD10:Q43.4																		owl:Class
MONDO:0008744	biolink:NamedThing	alar cartilages hypoplasia-coloboma-telecanthus syndrome	Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	mondoexuq1wtf	frontonasal dysplasia with alar clefts|coloboma of alar-nasal cartilages with telecanthus|alar-nasal cartilages, coloboma of, with telecanthus											MESH:C535967|ICD10:Q75.8|GARD:0000588|OMIM:203000|UMLS:C1859964|Orphanet:2007																		owl:Class
MONDO:0007833	biolink:NamedThing	iris pigment layer, cleavage of		mondoexuq1wtf	iris pigment layer, cleavage of											OMIM:147610																		owl:Class
MONDO:0019188	biolink:NamedThing	Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.	mondoexuq1wtf	Broad thumbs-halluces syndrome|Broad thumb-hallux syndrome|RSTS|proximal chromosome 16p13.3 deletion syndrome|Rubinstein syndrome											ICD10:Q87.2|Orphanet:783|MedDRA:10039281|NCIT:C75466|DOID:1933|SCTID:45582004|GARD:0007593|ICD9:759.89|UMLS:C0035934|OMIMPS:180849|MESH:D012415																		owl:Class
MONDO:0004063	biolink:NamedThing	intermediate cell type iris melanoma	Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	mondoexuq1wtf	iris intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of iris|Intermediate cell type iris melanoma|iris mixed cell melanoma											NCIT:C6101|UMLS:C1334210|DOID:6993																		owl:Class
MONDO:0001322	biolink:NamedThing	pericardium cancer	A malignant neoplasm involving the pericardium.	mondoexuq1wtf	pericardial tumor|malignant tumor of the pericardium|malignant pericardial tumor|cancer of pericardium|malignant tumor of pericardium|pericardium cancer|malignant neoplasm of pericardium|malignant neoplasm of the pericardium|malignant pericardium neoplasm|malignant pericardial neoplasm											UMLS:C0346609|DOID:116|NCIT:C4567|ICD10:C38.0																		owl:Class
MONDO:0021381	biolink:NamedThing	neoplasm of pericardium	A neoplasm (disease) that involves the pericardium.	mondoexuq1wtf	pericardial neoplasm|tumor of pericardium|tumor of the pericardium|pericardium neoplasm|pericardium neoplasm (disease)|pericardial tumor|neoplasm of the pericardium|neoplasm of pericardium|pericardium tumor											NCIT:C4651|ICD9:239.89|SCTID:126734005																		owl:Class
MONDO:0042967	biolink:NamedThing	rheumatic disease of mitral valve	A rheumatologic disorder that involves the mitral valve.	mondoexuq1wtf	mitral valve rheumatologic disorder|rheumatologic disorder of mitral valve|rheumatic mitral valve disease|rheumatic disease of mitral valve|rheumatic mitral valve changes											SCTID:83898004|UMLS:C0264765																		owl:Class
MONDO:0003767	biolink:NamedThing	mitral valve disease	A disease involving the mitral valve.	mondoexuq1wtf	disease or disorder of mitral valve|rheumatic mitral valve regurgitation|mitral valve disease or disorder|rheumatic mitral insufficiency|chronic rheumatic mitral valve|rheumatic disease of mitral valve|disorder of mitral valve|rheumatic mitral valve changes|disease of mitral valve|rheumatic mitral valve incompetence|mitral valve disease|mitral RH valve dis.|mitral valve disorder											DOID:61|UMLS:C2939153|ICD9:394.1|ICD9:424.0|SCTID:11851006|UMLS:C0026265|ICD10:I05.1|ICD9:394|ICD9:394.9|ICD10:I05.9|ICD10:I05|NCIT:C78446																		owl:Class
MONDO:0015196	biolink:NamedThing	vein of Galen aneurysm	Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.	mondoexuq1wtf	Galen vein aneurysm|vein of Galen aneurysm malformation|VGAM|ectasia or varix of the vein of Galen|Galenic arteriovenous malformation|vein of Galen arteriovenous malformations											MESH:C536535|SCTID:253194008|GARD:0005467|UMLS:C0431420|ICD10:Q28.2|Orphanet:1053														https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm				owl:Class
MONDO:0015248	biolink:NamedThing	ataxia-photosensitivity-short stature syndrome	Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	Fenton-Wilkinson-Toselano syndrome											UMLS:CN237421|Orphanet:1184																		owl:Class
MONDO:0003000	biolink:NamedThing	central nervous system germ cell tumor	A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.	mondoexuq1wtf	germ cell neoplasm of CNS|central nervous system rare germ cell tumor|germ cell neoplasm of the central nervous system|central nervous system germ cell neoplasm|CNS germ cell neoplasm|germ cell tumor of the central nervous system|germ cell tumor of the CNS|germ cell tumor of central nervous system|germ cell neoplasm of the CNS|germ cell tumor of CNS|germ cell neoplasm of central nervous system|CNS germ cell tumor|central nervous system germ cell tumor											UMLS:C1332880|NCIT:C5461|DOID:4439																		owl:Class
MONDO:0008307	biolink:NamedThing	presenile dementia, Kraepelin type		mondoexuq1wtf	catatonia of Kraepelin|Kraepelin disease|presenile dementia, Kraepelin type											GARD:0010032|MESH:C535273|UMLS:C1867772|OMIM:176600														https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type				owl:Class
MONDO:0014905	biolink:NamedThing	encephalopathy due to defective mitochondrial and peroxisomal fission 2		mondoexuq1wtf	encephalopathy due to defective mitochondrial and peroxisomal fission type 2|Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|encephalopathy due to defective mitochondrial and peroxisomal fission 2|EMPF2|MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect											UMLS:C4310726|OMIM:617086|Orphanet:485421																		owl:Class
MONDO:0009145	biolink:NamedThing	SchC6pf-Schulz-Passarge syndrome	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.	mondoexuq1wtf	palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome|eccrine tumors-ectodermal dysplasia|keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|SCHOPF-Schulz-Passarge syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SChöPF-Schulz-Passarge syndrome|eccrine tumors with ectodermal dysplasia|SSPS											MESH:C565607|ICD9:758.89|OMIM:224750|Orphanet:50944|UMLS:C1857069|SCTID:700062000|ICD10:Q82.8|DOID:0111647														https://github.com/monarch-initiative/mondo/issues/3293				owl:Class
MONDO:0000728	biolink:NamedThing	ptosis	The drooping of the upper eyelid.	mondoexuq1wtf	eyelid ptosis|drooping eyelid|ptosis (disease)|blepharoptosis|ptosis		ptosis (disease)									ICD9:374.30|UMLS:C0005745|ICD10:H02.4|SCTID:11934000|ICD10:H02.409|HP:0000508|ICD10:H02.40|ICD9:374.3|NCIT:C27298|MESH:D001763|UMLS:C0033377|DOID:0060260																		owl:Class
MONDO:0016781	biolink:NamedThing	maternal 14q32.2 microdeletion syndrome		mondoexuq1wtf	maternal monosomy 14q32.2|maternal del(14)(q32.2)											ICD10:Q93.5|Orphanet:254528|UMLS:CN202037																		owl:Class
MONDO:0018111	biolink:NamedThing	idiopathic severe pneumococcemia		mondoexuq1wtf												ICD10:A40.3|Orphanet:35065																		owl:Class
MONDO:0002434	biolink:NamedThing	oculomotor nerve cancer	A cancer involving a oculomotor nerve.	mondoexuq1wtf	oculomotor nerve cancer|IIIrd cranial nerve neoplasm, malignant|primary malignant neoplasm of oculomotor nerve|malignant oculomotor nerve neoplasm|cancer of oculomotor nerve|malignant oculomotor nerve tumor|malignant neoplasm of oculomotor nerve|oculomotor nerve neoplasm, malignant											SCTID:93929003|NCIT:C6995|DOID:2816|UMLS:C0686417																		owl:Class
MONDO:0043919	biolink:NamedThing	radiation pneumonitis	Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.	mondoexuq1wtf	Pneumonias, radiation|pneumonia, radiation|Pneumonitides, radiation|pulmonary radiation alveolitis|radiation Pneumonitides|radiation Pneumonias|radiation fibrosis|pneumonitis, radiation|radiation pneumonia|fibrosis, radiation|radiation pneumonitis											MESH:D017564|SCTID:84004001|EFO:0008517																		owl:Class
MONDO:0010735	biolink:NamedThing	Kennedy disease	Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.	mondoexuq1wtf	SBMA|X-linked bulbospinal muscular atrophy|spinal and bulbar muscular atrophy, X-linked 1|spinobulbar muscular atrophy|SMAX1|Kennedy's disease|X-linked bulbospinal amyotrophy|spinal and bulbar muscular atrophy|spinal bulbar muscular atrophy|bulbospinal muscular atrophy, X-linked|X-linked spinal and bulbar muscular atrophy|X-linked BSMA|X-linked bulbo-spinal atrophy|spinal and bulbar muscular atrophy, X-linked type 1|Kennedy disease|bulbospinal neuronopathy, X-linked recessive|Kennedy spinal and bulbar muscular atrophy											DOID:0060161|UMLS:C1839259|NCIT:C85233|MESH:D055534|GARD:0006818|ICD10:G12.2|MedDRA:10068600|Orphanet:481|OMIM:313200																		owl:Class
MONDO:0011994	biolink:NamedThing	autosomal dominant nonsyndromic deafness 41	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.	mondoexuq1wtf	P2RX2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 41|autosomal dominant deafness 41|DFNA41|autosomal dominant nonsyndromic deafness type 41|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|deafness, autosomal dominant type 41											MESH:C564272|OMIM:608224|UMLS:C1842371|ICD10:H90.3|DOID:0110567																		owl:Class
MONDO:0001087	biolink:NamedThing	schizotypal personality disorder	A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.	mondoexuq1wtf												SCTID:31027006|ICD9:301.22|NCIT:C92632|COHD:434010|ICD10:F21|MESH:D012569|DOID:10646																		owl:Class
MONDO:0006591	biolink:NamedThing	panniculitis	Inflammation of the subcutaneous adipose tissue.	mondoexuq1wtf	inflammation of subcutaneous adipose tissue|subcutis|Subcutaneous tissue|subcutaneous adipose tissue inflammation|Subcutaneous adipose tissue											UMLS:C0030326|ICD9:729.39|ICD9:729.3|ICD9:729.30|ICD10:M79.3|EFO:1000746|Wikipedia:Panniculitis|MESH:D015434|COHD:432719|SCTID:22125009|DOID:1526|NCIT:C33645																		owl:Class
MONDO:0019932	biolink:NamedThing	isolated partial vaginal agenesis	Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.	mondoexuq1wtf	congenital absence of vagina											Orphanet:96269|ICD10:Q52.0|SCTID:87380008|COHD:4337688																		owl:Class
MONDO:0024481	biolink:NamedThing	skin appendage disease	A disease that involves the cutaneous appendage.	mondoexuq1wtf	disease of epidermal appendages|disease of cutaneous appendage|cutaneous appendage disease or disorder|disorder of cutaneous appendage|disorder of skin appendage|disease of epidermal appendage|cutaneous appendage disease|disease or disorder of cutaneous appendage											SCTID:238714008|UMLS:C0037272																		owl:Class
MONDO:0000715	biolink:NamedThing	lymph node adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lymph node.	mondoexuq1wtf	lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma											DOID:0060219																		owl:Class
MONDO:0001082	biolink:NamedThing	lymph node cancer	A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004	mondoexuq1wtf	malignant lymph node neoplasm|lymph node neoplasm|malignant neoplasm of lymph node|cancer of lymph node|lymph node cancer											ICD9:239.89|SCTID:127232002|DOID:10619|NCIT:C35812																		owl:Class
MONDO:0004899	biolink:NamedThing	monofixation syndrome		mondoexuq1wtf	microtropia|microstrabismus											UMLS:C0339611|ICD10:H50.42|ICD9:378.34|DOID:9843|SCTID:14785004																		owl:Class
MONDO:0005379	biolink:NamedThing	neurotic disorder	A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.	mondoexuq1wtf	Psychoneuroses|reactive depression|neurotic disorder|neurotic depression reactive type|psychoneurosis NOS|neuroses|disorders, neurotic|neurotic depression|psychoneurosis|disorder, neurotic|depressive neurosis|neurosis|neurotic depressive state											SCTID:111475002|ICD10:F48.9|ICD10:F34.1|ICD9:300.9|ICD9:300.89|EFO:0004257|DOID:4964|MESH:D009497|NCIT:C34848|COHD:444243																		owl:Class
MONDO:0001989	biolink:NamedThing	atrophic glossitis		mondoexuq1wtf	atrophy of tongue papillae|glossitis, Hunter's|Hunter's glossitis|smooth atrophic tongue											DOID:1453|ICD10:K14.4|ICD9:529.4|UMLS:C0155964|COHD:439060|SCTID:9491003																		owl:Class
MONDO:0006771	biolink:NamedThing	glossitis	Inflammation of the tongue.	mondoexuq1wtf	inflammation of tongue|tongue inflammation											ICD9:529.0|SCTID:45534005|COHD:436147|ICD10:K14.0|EFO:1000951|MedDRA:10018386|MESH:D005928|UMLS:C0017675|DOID:1456																		owl:Class
MONDO:0018662	biolink:NamedThing	autosomal recessive brachyolmia	Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	mondoexuq1wtf	brachyolmia, autosomal recessive|brachyolmia, Hobaek/Toledo type											ICD10:Q76.3|UMLS:CN237725|Orphanet:448242																		owl:Class
MONDO:0015262	biolink:NamedThing	brachyolmia	Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.	mondoexuq1wtf	brachyrachia											Orphanet:1293|ICD10:Q76.3|DOID:0050690|ICD9:756.19|MESH:C537098|UMLS:C0432228|SCTID:254088006|GARD:0010903																		owl:Class
MONDO:0054844	biolink:NamedThing	pontocerebellar hypoplasia, type 1d		mondoexuq1wtf	pontocerebellar hypoplasia, type 1D|PCH1D											UMLS:CN252648|OMIM:618065																		owl:Class
MONDO:0100039	biolink:NamedThing	CDKL5 disorder	A monogenic disease that has material basis in mutation in the CDKL5 gene.	mondoexuq1wtf	inherited genetic disease caused by mutation in CDKL5|CDKL5-related disorder|CDKL5 inherited genetic disease|CDKL5				2018-06-29 18:32:48+00:00	Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity.						GARD:0012173														https://github.com/monarch-initiative/mondo/issues/202				owl:Class
MONDO:0008497	biolink:NamedThing	Stormorken syndrome	Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.	mondoexuq1wtf	thrombocytopathy, asplenia and miosis|STRMK|Stormorken-Sjaastad-Langslet syndrome|york Platelet syndrome|Stormorken syndrome|Thrombocytopathy, asplenia, and miosis|Thrombocytopathy-asplenia-miosis syndrome|Thrombocytopathy asplenia miosis											DOID:0060354|UMLS:C1861451|GARD:0005188|ICD10:D69.8|OMIM:185070|MESH:C566108|ICD9:759.89|Orphanet:3204|SCTID:711407000																		owl:Class
MONDO:0044724	biolink:NamedThing	3-methylglutaconic aciduria type 9		mondoexuq1wtf	MGA9|3-METHYLGLUTACONIC aciduria, type IX|MGCA9|3-methylglutaconic acuduria type IX, MGCA9|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-methylglutaconic acuduria type IX|3-Methylglutaconic aciduria, type 9											Orphanet:505216|OMIM:617698|DOID:0070002|UMLS:CN510468																		owl:Class
MONDO:0000242	biolink:NamedThing	tinea barbae	A dermatophytosis that involves the beard.	mondoexuq1wtf	dermatophytosis of beard|beard dermatophytosis											SCTID:399329002|DOID:0050096|UMLS:C2349994																		owl:Class
MONDO:0017177	biolink:NamedThing	hemihyperplasia-multiple lipomatosis syndrome	Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.	mondoexuq1wtf	HHML											ICD10:Q87.3|UMLS:CN202613|Orphanet:276280																		owl:Class
MONDO:0014805	biolink:NamedThing	Hao-Fountain syndrome	A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.	mondoexuq1wtf	chromosome 16p13.2 deletion syndrome|USP7-related neurodevelopmental disorder|monosomy 16p13.2|HAFOUS|16p13.2 microdeletion syndrome|Del(16)(p13.2)|chromosome 16P13.2 deletion syndrome											Orphanet:500055|UMLS:C4225667|OMIM:616863																		owl:Class
MONDO:0006337	biolink:NamedThing	ovarian endometriosis	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.	mondoexuq1wtf	ovarian endometriosis|endometriosis of ovary|ovary endometriosis (disease)|endometriosis (disease) of ovary											SCTID:266589005|DOID:11432|COHD:199881|EFO:1000418|ICD9:617.1|UMLS:C0156344|ICD10:N80.1|NCIT:C27628																		owl:Class
MONDO:0003121	biolink:NamedThing	middle cranial fossa meningioma	A meningioma that affects the middle cranial fossa.	mondoexuq1wtf	meningioma of the middle cranial fossa|meningioma (disease) of middle cranial fossa|middle cranial fossa meningioma (disease)|meningioma of middle cranial fossa											UMLS:C1334757|DOID:4749|NCIT:C5586																		owl:Class
MONDO:0042974	biolink:NamedThing	parainfluenza virus type 3 infectious disease	Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.	mondoexuq1wtf	infection due to parainfluenza virus 3|human respirovirus 3 disease or disorder|infection due to human parainfluenza virus 3|PIV3|infection caused by human parainfluenza virus 3|infection caused by parainfluenza virus 3|human parainfluenza virus type 3|human respirovirus 3 infectious disease|human respirovirus 3 caused disease or disorder											GARD:0004215|SCTID:30270006|UMLS:C0276324|ICD9:079.89|OMOP:4147524																		owl:Class
MONDO:0005662	biolink:NamedThing	balantidiasis	Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.	mondoexuq1wtf	balantidiosis|large-intestinal infection with Balantidium coli|Human balantidiasis|Balantidium coli infection|Balantidiases|ciliary dysentery|B coli infection											MedDRA:10004080|Orphanet:1223|UMLS:C0004692|ICD9:007.0|GARD:0000809|SCTID:57725006|ICD10:A07.0|NCIT:C84583|DOID:12386|EFO:0007163|MESH:D001447														https://rarediseases.info.nih.gov/diseases/809/balantidiasis				owl:Class
MONDO:0023541	biolink:NamedThing	Kasznica-Carlson-Coppedge syndrome		mondoexuq1wtf	ectrodactyly spina bifida cardiopathy|Kasznica Carlson Coppedge syndrome|ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery											GARD:0003080|UMLS:C2931393|MESH:C537011														https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome				owl:Class
MONDO:0003769	biolink:NamedThing	herpetic gastritis	Gastritis resulting from herpes virus.	mondoexuq1wtf	Herpesviridae viral gastritis|Herpesviridae caused viral gastritis											DOID:6102|NCIT:C27341|UMLS:C1333996																		owl:Class
MONDO:0005794	biolink:NamedThing	Herpesviridae infectious disease	Virus diseases caused by the herpesviridae.	mondoexuq1wtf	infection, Herpesviridae|Herpesvirus infection|Herpesvirus infections|Herpesviridae disease or disorder|Herpesviridae caused disease or disorder|Herpesviridae infection|herpesvirus infection|infection, Herpesvirus|infections, Herpesvirus|infections, Herpesviridae|Herpesviridae infections|herpes infection											EFO:0007309|MESH:D006566|SCTID:23513009																		owl:Class
MONDO:0043519	biolink:NamedThing	burn	A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation.	mondoexuq1wtf	Burn(s)|burn|Burn											EFO:1001768|SCTID:125666000|NCIT:C34441|MESH:D002056																		owl:Class
MONDO:0021178	biolink:NamedThing	injury	Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.	mondoexuq1wtf	traumatic injury|wound|trauma|injury											COHD:440921|MESH:D014947|ICD10:S00.T98|NCIT:C3671|EFO:0000546																		owl:Class
MONDO:0000395	biolink:NamedThing	alcohol-related birth defect	A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.	mondoexuq1wtf	alcohol related birth defect|ARBD											DOID:0050668|NCIT:C92727|UMLS:C3146244																		owl:Class
MONDO:0001543	biolink:NamedThing	lesion of sciatic nerve	A peripheral nerve lesion that involves the sciatic nerve.	mondoexuq1wtf	peripheral nerve lesion of sciatic nerve|sciatic nerve peripheral nerve lesion											UMLS:C0154748|ICD10:G57.0|ICD9:355.0|DOID:12528|SCTID:367137004|COHD:372888|ICD10:G57.00																		owl:Class
MONDO:0001584	biolink:NamedThing	ocular motility disease		mondoexuq1wtf	disorder of eye movements|eye movement disorder											EFO:1001990|GARD:0007237|SCTID:45030009|ICD9:378.9|DOID:1279|COHD:377885																		owl:Class
MONDO:0018636	biolink:NamedThing	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome		mondoexuq1wtf	TPPII deficiency|TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|Evans syndrome associated with primary immunodeficiency|triangle disease|tripeptidyl-peptidase II deficiency											Orphanet:444463|ICD10:D61.0|UMLS:CN237691																		owl:Class
MONDO:0017366	biolink:NamedThing	hereditary pheochromocytoma-paraganglioma	Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).	mondoexuq1wtf	hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma|familial pheochromocytoma-paraganglioma											ICD10:D35.0|GARD:0011984|ICD10:C74.1|UMLS:C1708353|Orphanet:29072|ICD10:C75.5|ICD10:D35.6														https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma				owl:Class
MONDO:0004107	biolink:NamedThing	splenic manifestation of leukemia	A leukemia (disease) that involves the spleen.	mondoexuq1wtf	leukemia (disease) of spleen|splenic leukemia|splenic manifestation of leukemia|spleen leukemia (disease)											DOID:710|NCIT:C7296|UMLS:C1336065																		owl:Class
MONDO:0005966	biolink:NamedThing	spleen cancer	A malignant neoplasm involving the spleen	mondoexuq1wtf	malignant tumor of spleen|malignant neoplasm of the spleen|malignant neoplasm of spleen|malignant splenic neoplasm|malignant tumor of the spleen|cancer of spleen|malignant spleen neoplasm|spleen neoplasm|spleen cancer|splenic neoplasm|splenic cancer|malignant tumour of spleen|cancer of the spleen|malignant splenic tumor											DOID:672|SCTID:127230005|NCIT:C3539|ICD10:C26.1|MESH:D013160|EFO:0007491																		owl:Class
MONDO:0002558	biolink:NamedThing	melanotic neurilemmoma	A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.	mondoexuq1wtf	pigmented neurilemmoma|pigmented schwannoma|melanocytic schwannoma|melanotic schwannoma|melanotic neurinoma|melanotic schwannoma (morphologic abnormality)|MSCHW|melanocytic neurilemmoma											DOID:3205|ICD9:215.8|ONCOTREE:MSCHW|NCIT:C6970|SCTID:404024000|UMLS:C1306247																		owl:Class
MONDO:0000373	biolink:NamedThing	gall bladder carcinoma in situ	A carcinoma in situ involving a gall bladder.	mondoexuq1wtf	carcinoma in situ of gall bladder|stage 0 gall bladder carcinoma|gall bladder in situ carcinoma											DOID:0050612																		owl:Class
MONDO:0004647	biolink:NamedThing	in situ carcinoma	A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.	mondoexuq1wtf	carcinoma, in situ, malignant|epithelial tumor, in situ, malignant|carcinoma in situ|stage 0 disease|intraepithelial carcinoma|non-invasive carcinoma|CIS					Editor note: check pre-malignant vs malignant						MESH:D002278|COHD:433435|DOID:8719|ICD10:D09.9|SCTID:109355002|ICDO:8010/2|ICD9:234.8|ICD9:234.9|NCIT:C2917|ICD9:230-234.99|UMLS:C0007099																		owl:Class
MONDO:0018837	biolink:NamedThing	postinfectious vasculitis	Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.	mondoexuq1wtf												ICD10:I77.6|SCTID:724063005|Orphanet:48435|UMLS:C4510302																		owl:Class
MONDO:0007695	biolink:NamedThing	hairy palms and soles		mondoexuq1wtf	thickened hair-bearing skin on the palms of both hands|hairy cutaneous malformations of palms and soles|hairy palms and soles|circumscribed hairy Dysembryoplasia of palms											MESH:C535620|OMIM:139650|GARD:0008461														https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles				owl:Class
MONDO:0001203	biolink:NamedThing	prolapse of lacrimal gland		mondoexuq1wtf	dislocation of lacrimal gland											DOID:11134|UMLS:C0155231|SCTID:84777002|ICD10:H04.16|ICD9:375.16|COHD:379814																		owl:Class
MONDO:0024625	biolink:NamedThing	disorder of lacrimal gland	A disease that involves the lacrimal gland.	mondoexuq1wtf	lacrimal gland disease|disease or disorder of lacrimal gland|disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease or disorder											UMLS:C0235228|SCTID:95766002																		owl:Class
MONDO:0043512	biolink:NamedThing	traumatic encephalopathy	Encephalopathy resulting from trauma.	mondoexuq1wtf	traumatic encephalopathy|post-traumatic brain syndrome|post-traumatic dementia|dementia due to head trauma					Editor note: consider separate class for dementia						EFO:1001277|NCIT:C35542|SCTID:230282000																		owl:Class
MONDO:0017784	biolink:NamedThing	Epstein-Barr virus-associated gastric carcinoma	Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.	mondoexuq1wtf	EBVaGC|EBV-associated gastric carcinoma											SCTID:716586009|ICD10:C16.0|ICD10:C16.2|Orphanet:313920|UMLS:CN203734																		owl:Class
MONDO:0013057	biolink:NamedThing	psoriasis 12, susceptibility to		mondoexuq1wtf	PSORS12|psoriasis 12, susceptibility to											OMIM:612950|DOID:0111291																		owl:Class
MONDO:0005083	biolink:NamedThing	psoriasis	An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.	mondoexuq1wtf												ICD10:L40.9|SCTID:9014002|ICD9:696|UMLS:C0033860|COHD:140168|OMIMPS:177900|EFO:0000676|ICD9:696.1|ICD9:696.8|DOID:8893|ICD10:L40|ICD9:696.5|MESH:D011565|GARD:0010262|NCIT:C3346																		owl:Class
MONDO:0012205	biolink:NamedThing	autosomal dominant striatal neurodegeneration type 1	Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.	mondoexuq1wtf	PDE8B striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant 1|ADSD1|ADSD|striatal Degeneration, autosomal dominant 1|striatal degeneration, autosomal dominant caused by mutation in PDE8B|autosomal dominant striatal neurodegeneration|striatal degeneration, autosomal dominant											SCTID:725392005|OMIM:609161																		owl:Class
MONDO:0000211	biolink:NamedThing	striatal degeneration, autosomal dominant	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	mondoexuq1wtf	ADSD|autosomal dominant striatal neurodegeneration					See genetic heterogeneity of OMIM 609161 smb.						MESH:C563783|OMIMPS:609161|UMLS:C1836694|DC:0000722|Orphanet:228169																		owl:Class
MONDO:0010855	biolink:NamedThing	short tarsus-absence of lower eyelashes syndrome	Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	mondoexuq1wtf	stale|Lopes Gorlin syndrome|short tarsus with absence of LOWER eyelashes|Lopes-Gorlin syndrome|short tarsus absence of lower eyelashes											UMLS:C1838328|Orphanet:2832|GARD:0000296|MESH:C537036|ICD10:Q87.2|OMIM:600269|SCTID:721075001																		owl:Class
MONDO:0006151	biolink:NamedThing	colon dysplasia	A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.	mondoexuq1wtf	dysplasia of the colon|dysplasia of colon|colonic dysplasia					Editor notes: not in NCIT neoplas subset						SCTID:308870004|UMLS:C1302363|NCIT:C4847|EFO:1000183																		owl:Class
MONDO:0032669	biolink:NamedThing	Diamond-Blackfan anemia 19		mondoexuq1wtf	DBA19|DIAMOND-BLACKFAN ANEMIA 19											OMIM:618312																		owl:Class
MONDO:0020672	biolink:NamedThing	vascular occlusion disorder	A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.	mondoexuq1wtf	vascular occlusion																													owl:Class
MONDO:0012217	biolink:NamedThing	Bruck syndrome 2	Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.	mondoexuq1wtf	osteogenesis imperfecta with congenital Joint contractures|PLOD2 Bruck syndrome|Bruck syndrome type 2|Bruck syndrome 2|Bruck syndrome caused by mutation in PLOD2|BRKS2											OMIM:609220|GARD:0010023|UMLS:C1836602																		owl:Class
MONDO:0001462	biolink:NamedThing	descending colon cancer	A malignant neoplasm involving the descending colon.	mondoexuq1wtf	descending colon cancer|malignant tumor of descending colon|cancer of descending colon|malignant neoplasm of descending colon|malignant descending colon neoplasm|malignant neoplasm of left colon|Ca descending colon											ICD9:153.2|DOID:12190|UMLS:C0153435|ICD10:C18.6|SCTID:363409003																		owl:Class
MONDO:0021063	biolink:NamedThing	malignant colon neoplasm	A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant colon neoplasm|colon cancer|colon neoplasm, malignant|colon tumor, malignant|malignant neoplasm of the colon|malignant colonic neoplasm|malignant tumor of the colon|cancer of colon|malignant tumor of colon|malignant colon tumor|malignant colonic tumor|malignant neoplasm of colon											DOID:219|ICD9:153|UMLS:C0007102|ICD10:C18.9|NCIT:C9242|COHD:4180790|SCTID:363406005|ICD10:C18|ICD9:153.8|ICD9:153.9																		owl:Class
MONDO:0010837	biolink:NamedThing	primary hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.	mondoexuq1wtf	primary hyperparathyroidism (disease)|primary hyperparathyroidism		primary hyperparathyroidism (disease)			Editor note: check relationship to parent and familiar form						ICD10:E21.0|SCTID:36348003|NCIT:C48280|EFO:0008519|ICD9:252.01|GARD:0008612|HP:0008200|MESH:D049950|DOID:11202|COHD:136934																		owl:Class
MONDO:0008171	biolink:NamedThing	nephrolithiasis	The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.	mondoexuq1wtf	Stone - kidney/ureter|nephrolithiasis, calcium oxalate|kidney stone|CAON|kidney stones|renal calculi|urolithiasis, calcium oxalate|calculus of kidney and ureter											EFO:0003845|NCIT:C114667|SCTID:266556005|ICD9:592|DOID:585|MESH:D053040|UMLS:C0156257|ICD10:N20.2|COHD:201620|EFO:0004253|COHD:4148260|ICD10:N20|UMLS:C0392525																		owl:Class
MONDO:0007837	biolink:NamedThing	Johnson neuroectodermal syndrome	Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	mondoexuq1wtf	alopecia anosmia deafness hypogonadism syndrome|Johnson-McMillin syndrome|Aadh syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|Johnson neuroectodermal syndrome											GARD:0000378|OMIM:147770|Orphanet:2316|UMLS:C0796002|SCTID:721584005|MESH:C535882|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome				owl:Class
MONDO:0009913	biolink:NamedThing	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness		mondoexuq1wtf	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness|prune belly syndrome with pulmonic stenosis, mental retardation, and deafness											OMIM:264140|UMLS:C0403551|MESH:C562894|SCTID:236529001																		owl:Class
MONDO:0017263	biolink:NamedThing	inherited ichthyosis syndromic form	A inherited ichthyosis that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with inherited ichthyosis|syndromic inherited ichthyosis											Orphanet:281085																		owl:Class
MONDO:0005146	biolink:NamedThing	post-traumatic stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.	mondoexuq1wtf	traumatic neurosis|combat neurosis|PTSD|post-traumatic stress disorder											ICD10:F43.1|NCIT:C3389|DOID:2055|MESH:D013313|ICD9:309.81|NIFSTD:birnlex_12679|EFO:0001358|ICD10:F43.10|SCTID:47505003																		owl:Class
MONDO:0013617	biolink:NamedThing	overgrowth-macrocephaly-facial dysmorphism syndrome	This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.	mondoexuq1wtf	MMFD|macrocephaly, macrosomia, and facial dysmorphism syndrome|RNF135-related overgrowth syndrome											OMIM:614192|SCTID:722122000|ICD10:Q87.3|Orphanet:137634|UMLS:C3280095																		owl:Class
MONDO:0020590	biolink:NamedThing	mycobacterial infectious disease	Infection due to organisms from the genus Mycobacteria.	mondoexuq1wtf	mycobacteriosis|mycobacterial infection|mycobacterium infection											SCTID:88415009|UMLS:C0026918|NCIT:C26831|MESH:D009164																		owl:Class
MONDO:0003301	biolink:NamedThing	dartoic leiomyoma	A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.	mondoexuq1wtf	leiomyoma of dartos muscle|dartoic myoma|dartos muscle leiomyoma|dartoic leiomyoma											UMLS:C0346066|ICD9:215.9|SCTID:254770007|DOID:5147|NCIT:C4483																		owl:Class
MONDO:0012882	biolink:NamedThing	major affective disorder 9		mondoexuq1wtf	MAJOR affective disorder 9|bipolar affective disorder|MAFD9|major affective disorder 9											MESH:C567531|OMIM:612372																		owl:Class
MONDO:0012799	biolink:NamedThing	hypertrophic cardiomyopathy 11	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 11|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 11|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy caused by mutation in ACTC1|hypertrophic cardiomyopathy type 11|CMH11											DOID:0110317|OMIM:612098|UMLS:C2677506|MESH:C567419																		owl:Class
MONDO:0018181	biolink:NamedThing	staphylococcal scalded skin syndrome	A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.	mondoexuq1wtf	scalded skin syndrome|toxic epidermal necrolysis, subcorneal type|generalized exfoliative disease|pemphigus neonatorum|staphylococcal scalded skin syndrome|SSSS|dermatitis exfoliativa neonatorum|Ritter disease|Ritter's disease											ICD9:695.81|MESH:D013206|MedDRA:10041929|UMLS:C0038165|EFO:0007473|ICD10:L00|COHD:132392|SCTID:200946001|SCTID:277475006|UMLS:C0678185|Orphanet:36236|NCIT:C85077|DOID:9063																		owl:Class
MONDO:0017592	biolink:NamedThing	staphylococcal toxemia		mondoexuq1wtf												MedDRA:10041932|UMLS:C0854511|Orphanet:300579																		owl:Class
MONDO:0021468	biolink:NamedThing	benign neoplasm of adrenal medulla	A benign neoplasm that involves the adrenal medulla.	mondoexuq1wtf	benign tumor of the adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla tumor|benign tumor of adrenal medulla|benign neoplasm of the adrenal medulla|benign adrenal medulla neoplasm											SCTID:91968002|UMLS:C0686512|NCIT:C4895																		owl:Class
MONDO:0021237	biolink:NamedThing	adrenal medulla neoplasm	A neoplasm (disease) that involves the adrenal medulla.	mondoexuq1wtf	adrenal medulla tumor|neoplasm of adrenal medulla|tumor of adrenal medulla|adrenal medulla neoplasm (disease)											UMLS:C0596046|NCIT:C4856																		owl:Class
MONDO:0014328	biolink:NamedThing	developmental and epileptic encephalopathy, 19	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.	mondoexuq1wtf	GABRA1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 19|EIEE19|early infantile epileptic encephalopathy caused by mutation in GABRA1|epileptic encephalopathy, early infantile, type 19|DEE19|Early Infantile epileptic encephalopathy 19											OMIM:615744|NCIT:C142802|UMLS:C3810400|DOID:0080431																		owl:Class
MONDO:0000975	biolink:NamedThing	lipoma of spermatic cord	A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.	mondoexuq1wtf	lipoma of the spermatic cord|spermatic cord lipoma|lipoma of spermatic cord											SCTID:93162007|DOID:10206|UMLS:C0153972|NCIT:C3606|ICD9:214.4|COHD:197823																		owl:Class
MONDO:0000976	biolink:NamedThing	paratesticular lipoma	A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.	mondoexuq1wtf	paratesticular lipoma											UMLS:C1335348|NCIT:C6384|DOID:10207																		owl:Class
MONDO:0013242	biolink:NamedThing	maturity-onset diabetes of the young type 11	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.	mondoexuq1wtf	BLK maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 11|MODY11|maturity-onset diabetes of the young (disease) caused by mutation in BLK											UMLS:C3150618|SCTID:609578001|DOID:0111109|OMIM:613375																		owl:Class
MONDO:0014103	biolink:NamedThing	hypogonadotropic hypogonadism 18 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.	mondoexuq1wtf	IL17RD hypogonadotropic hypogonadism|HH18|hypogonadotropic hypogonadism caused by mutation in IL17RD|hypogonadotropic hypogonadism 18 with or without anosmia											UMLS:C3808975|DOID:0090076|OMIM:615267|ICD10:E23.0																		owl:Class
MONDO:0006863	biolink:NamedThing	myxosarcoma	An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.	mondoexuq1wtf	myxosarcoma (morphologic abnormality)|myxosarcoma, malignant|myxosarcoma											ICDO:8840/3|EFO:1001056|DOID:4136|UMLS:C0027155|NCIT:C3255|MESH:D009236																		owl:Class
MONDO:0019433	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis	Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.	mondoexuq1wtf	Pauciarticular juvenile idiopathic arthritis|Oligoarticular JIA|Pauciarticular chronic arthritis|Pauciarticular JIA											UMLS:C3898105|GARD:0004261|Orphanet:85410|EFO:1002019|UMLS:C2931171|MESH:C536312|ICD10:M08.4|NCIT:C119032																		owl:Class
MONDO:0011429	biolink:NamedThing	juvenile idiopathic arthritis	Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).	mondoexuq1wtf	monarticular juvenile rheumatoid arthritis|juvenile chronic polyarthritis|juvenile idiopathic arthritis|acute juvenile rheumatoid arthritis|juvenile rheumatoid arthritis|juvenile chronic arthritis|rheumatoid arthritis, systemic juvenile|JIA|systemic juvenile rheumatoid arthritis|pauciarticular onset juvenile chronic arthritis|Juvenile idiopathic arthritis|pauciarticular juvenile arthritis											ICD10:M08.0|ICD10:M08.2|SCTID:410502007|OMIM:604302|ICD10:M08.40|DOID:676|ICD10:M08.8|ICD10:M08.3|ICD10:M08.4|ICD10:M08.9|MESH:D001171|ICD10:M08.1|ICD9:714.3|ICD9:714.31|COHD:75622|Orphanet:92|ICD9:714.33|NCIT:C114357|ICD9:714.32|MedDRA:10059177																		owl:Class
MONDO:0003087	biolink:NamedThing	mucoepidermoid breast carcinoma	A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.	mondoexuq1wtf	mucoepidermoid carcinoma of breast|mucoepidermoid carcinoma of the breast|breast mucoepidermoid carcinoma|mucoepidermoid breast carcinoma											UMLS:C1334813|DOID:4679|NCIT:C5166																		owl:Class
MONDO:0019023	biolink:NamedThing	cutaneous mastocytosis	Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.	mondoexuq1wtf	cutaneous (skin) mastocytosis|CM|CMCD|cutaneous mastocytosis (disease)|cutaneous mastocytosis											EFO:1000886|ICD10:Q82.2|DOID:3663|ICDO:9740/1|HP:0200151|UMLS:C1136033|NCIT:C7137|SCTID:397012002|Orphanet:66646|GARD:0007842|MESH:D034701|ONCOTREE:CMCD																		owl:Class
MONDO:0003787	biolink:NamedThing	childhood testicular mixed germ cell cancer	A malignant mixed germ cell neoplasm that arises from the testis during childhood.	mondoexuq1wtf	pediatric mixed testicular germ cell cancer|childhood mixed testicular germ cell cancer|pediatric testicular mixed germ cell tumor|mixed testicular germ cell cancer of childhood|childhood testicular mixed germ cell neoplasm|childhood testicular mixed germ cell tumor|pediatric testicular mixed germ cell neoplasm											NCIT:C6542|UMLS:C1333009|DOID:6161																		owl:Class
MONDO:0003120	biolink:NamedThing	mixed testicular germ cell cancer	A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.	mondoexuq1wtf	mixed germ cell tumor|testicular mixed germ cell neoplasm|testicular mixed germ cell tumor|mixed testicular germ cell tumor|testicular germ cell tumor (mixed)|mixed germ cell neoplasm of the testis|mixed germ cell neoplasm of testis|mixed germ cell tumor of testis|mixed germ cell tumor of the testis|testis mixed germ cell tumor											UMLS:C1336720|ONCOTREE:MGCT|NCIT:C6347|DOID:4743																		owl:Class
MONDO:0015803	biolink:NamedThing	wound botulism	Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.	mondoexuq1wtf	cutaneous toxin-mediated botulism|cutaneous infectious botulism|inoculation botulism|skin infectious botulism|skin toxin-mediated botulism											ICD9:040.42|SCTID:398530003|NCIT:C128342|DOID:0050353|Orphanet:178475|ICD10:A48.52|UMLS:C1306794|ICD10:A05.1																		owl:Class
MONDO:0011901	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2H	Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, type 2H|Charcot Marie Tooth disease type 2H|CMT2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|axonal Charcot-Marie-Tooth disease with pyramidal involvement|CMT 2H|autosomal recessive axonal CMT4C2|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|AR-CMT2C|Charcot-Marie-Tooth disease type 2H					Not in the OMIM series.						MESH:C535415|DOID:0110166|ICD10:G60.0|UMLS:C1843173|GARD:0009196|SCTID:720637005|Orphanet:101102|OMIM:607731																		owl:Class
MONDO:0019053	biolink:NamedThing	peroxisomal disease	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.	mondoexuq1wtf	peroxisomal disease|peroxisomal disorder|peroxisomal function disorder|disorder of peroxisomal function											ICD10:E71.50|DOID:906|UMLS:C0282528|NCIT:C85005|ICD9:277.89|ICD9:277.86|SCTID:238059005|COHD:441268|Orphanet:68373|ICD10:E71.5																		owl:Class
MONDO:0011249	biolink:NamedThing	torsion dystonia with onset in infancy	A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.	mondoexuq1wtf	torsion dystonia with onset in infancy											OMIM:602554|DOID:0090058|ICD10:G24.1|MESH:C536969|UMLS:C1865205																		owl:Class
MONDO:0007492	biolink:NamedThing	early-onset generalized limb-onset dystonia	A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	mondoexuq1wtf	dystonia 1, torsion, autosomal dominant|early-onset torsion dystonia|torsion dystonia type 1|Primary torsion dystonia|early-onset generalized limb-onset dystonia|Early-onset Primary dystonia|DYT-TOR1A dystonia|torsion dystonia 1|Dyt1|Oppenheim dystonia|idiopathic dystonia|DYT1|early onset primary dystonia|early onset torsion dystonia|torsion dystonia 1, autosomal dominant|Early-onset torsion dystonia|idiopathic torsion dystonia|dystonia 1|dystonia musculorum deformans 1|early-onset generalized torsion dystonia|early-onset primary dystonia|DYT-TOR1A|Oppenheim's dystonia|dystonia 1, torsion, Autosomal dominant|idiopathic dystonia DYT1|EOTD|dystonia musculorum deformans										MONDO:0023033	DOID:0060730|MESH:C538005|OMIM:128100|NCIT:C116718|UMLS:C0013423|GARD:0002027|ICD10:G24.1|Orphanet:256|UMLS:C3888090														https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia				owl:Class
MONDO:0001651	biolink:NamedThing	scrotum squamous cell carcinoma	A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.	mondoexuq1wtf	squamous cell carcinoma of the scrotum|scrotal squamous cell carcinoma|scrotum squamous cell carcinoma|squamous cell carcinoma of scrotum											SCTID:276860003|DOID:13159|NCIT:C4643|UMLS:C0349551																		owl:Class
MONDO:0042487	biolink:NamedThing	uterine cervix carcinoma in situ	Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003	mondoexuq1wtf	severe dysplasia of uterine cervix aJCC v6|cervical Severe dysplasia aJCC v6|FIGO stage 0 carcinoma of uterine cervix|carcinoma in situ of cervix uteri aJCC v6|cervix carcinoma in situ aJCC v6|cervix Ca in situ|carcinoma in situ of the cervix aJCC v6|squamous intraepithelial neoplasia, grade III|cervix intraepithelial neoplasia grade 3 aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|CIN III - severe dyskaryosis|severe dysplasia of the uterine cervix aJCC v6|CIN grade 3 aJCC v6|CIN 3 aJCC v6|cervix Severe dysplasia aJCC v6|severe dysplasia of cervix uteri aJCC v6|FIGO stage 0 cervical carcinoma|severe dysplasia of cervix|carcinoma in situ of cervix aJCC v6|carcinoma in situ of the uterine cervix aJCC v6|intraepithelial neoplasia of the cervix grade 3 aJCC v6|FIGO stage 0 uterine cervix carcinoma|CIN III|severe dysplasia of the cervix aJCC v6|cervical carcinoma in situ aJCC v6|FIGO stage 0 cervix uteri carcinoma|uterine cervix Severe dysplasia aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|stage 0 cervical cancer|carcinoma of cervix stage 0|carcinoma in situ of the cervix uteri aJCC v6|severe dysplasia of cervix aJCC v6|FIGO stage 0 carcinoma of cervix uteri|cervical cancer stage 0 aJCC v6|cervix uteri Severe dysplasia aJCC v6|cervix uteri carcinoma in situ|cervix uteri carcinoma in situ aJCC v6|uterine cervix carcinoma in situ aJCC v6|stage 0 uterine cervix carcinoma|FIGO stage 0 carcinoma of cervix|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|CIN III - carcinoma in situ of cervix|severe cervical dysplasia aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|grade 3 cervical intraepithelial neoplasia aJCC v6|carcinoma in situ of cervix|FIGO stage 0 cervix carcinoma|FIGO stage 0 carcinoma of the cervix|cervical intraepithelial neoplasia grade 3 aJCC v6|carcinoma in situ of uterine cervix|carcinoma in situ of uterine cervix aJCC v6|intraepithelial neoplasia of cervix grade 3 aJCC v6|cervical intraepithelial neoplasia grade III with severe dysplasia|FIGO stage 0 carcinoma of the uterine cervix|stage 0 cervical cancer aJCC v6|severe dysplasia of the cervix uteri aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6											NCIT:C4000|MESH:D018290|ICD10CM:D06.9|SCTID:254889004|ICD10CM:D06|UMLS:C0851140|ICD10:D06|COHD:194611|ICD9:233.1|DOID:8991|ICD10:D06.9																		owl:Class
MONDO:0004710	biolink:NamedThing	uterus carcinoma in situ	A carcinoma in situ involving a uterus.	mondoexuq1wtf	stage 0 uterus carcinoma|carcinoma in situ of uterus|uterus in situ carcinoma											UMLS:C0686237|COHD:192581|DOID:9108|SCTID:92788005|ICD9:233.2																		owl:Class
MONDO:0014921	biolink:NamedThing	developmental and epileptic encephalopathy, 43	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.	mondoexuq1wtf	GABRB3 early infantile epileptic encephalopathy|EIEE43|DEE43|epileptic encephalopathy, early infantile, 43; EIEE43|early infantile epileptic encephalopathy caused by mutation in GABRB3|epileptic encephalopathy, early infantile, type 43|epileptic encephalopathy, early infantile, 43											DOID:0080447|UMLS:C4310712|OMIM:617113																		owl:Class
MONDO:0003960	biolink:NamedThing	pulmonary large cell neuroendocrine carcinoma	A large cell neuroendocrine carcinoma that involves the lung(s).	mondoexuq1wtf	lung large cell neuroendocrine carcinoma|pulmonary large cell neuroendocrine carcinoma|LCNEC of the lung|large cell neuroendocrine carcinoma of the lung|large cell lung carcinoma with neuroendocrine differentiation|large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of lung											NCIT:C5672|DOID:6658|UMLS:C1334363																		owl:Class
MONDO:0021518	biolink:NamedThing	benign neoplasm of hard palate	A benign neoplasm that involves the hard palate.	mondoexuq1wtf	benign tumor of the hard palate|benign tumor of hard palate|benign hard palate neoplasm|benign neoplasm of the hard palate|hard palate benign neoplasm|benign hard palate tumor											SCTID:92129006|UMLS:C0345552|ICD9:210.4|NCIT:C4403																		owl:Class
MONDO:0042600	biolink:NamedThing	Sammartino-Decreccio syndrome		mondoexuq1wtf	Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality											GARD:0000150																		owl:Class
MONDO:0044797	biolink:NamedThing	desmoplastic nevus	A benign melanocytic nevus characterized by the presence of desmoplastic stroma.	mondoexuq1wtf	Desmoplastic Nevus											NCIT:C4497|UMLS:C0346098																		owl:Class
MONDO:0044794	biolink:NamedThing	benign melanocytic skin nevus	A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.	mondoexuq1wtf	benign melanocytic skin nevus|benign nevus of skin|benign skin nevus|benign melanocytic nevus of the skin|benign nevus of the skin|benign melanocytic nevus of skin|benign melanocytic nevus|benign mole					Editor note: TODO logical def						NCIT:C7571|UMLS:C1456781																		owl:Class
MONDO:0009859	biolink:NamedThing	PHAVER syndrome	Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.	mondoexuq1wtf	pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects|PHAVER syndrome|Powell-Chandra-Saal syndrome											MESH:C538357|SCTID:723453002|ICD10:Q87.8|UMLS:C1849928|Orphanet:2876|GARD:0004465|OMIM:261575														https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome				owl:Class
MONDO:0009755	biolink:NamedThing	neutrophil actin dysfunction	Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.	mondoexuq1wtf	Atypical Nevus|dysplastic nevi|Nevus with architectural disorder|lentiginous Nevus|NAD|neutrophil actin dysfunction|dysplastic nevus|Nevus with architectural disorder and cytologic atypia of melanocytes|Clark Nevus|Clark's Nevus|dysplastic Nevus											MESH:C564942|NCIT:C3694|UMLS:C1850380|OMIM:257150																		owl:Class
MONDO:0009105	biolink:NamedThing	trichohepatoenteric syndrome	A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.	mondoexuq1wtf	Syndromatic diarrhea|syndromic diarrhea|Trichohepatoenteric syndrome|syndromic diarrhea/Tricho-hepato-enteric syndrome|Trichohepatoenteric syndrome type 1|SD/THE|THES1|Tricho-hepato-enteric syndrome|phenotypic diarrhea											Orphanet:84064|DOID:0111414|UMLS:C1857276|OMIMPS:222470|GARD:0005258|SCTID:703406006																		owl:Class
MONDO:0008151	biolink:NamedThing	gnathodiaphyseal dysplasia	Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.	mondoexuq1wtf	GDD|GNATHODIAPHYSEAL dysplasia|osteogenesis imperfecta with unusual skeletal lesions|gnathodiaphyseal dysplasia|osteogenesis imperfecta Levin type|Levin syndrome 2|Gnathodiaphyseal sclerosis											SCTID:715568002|Orphanet:53697|UMLS:C1833736|GARD:0008698|MESH:C536039|OMIM:166260|DOID:0111533																		owl:Class
MONDO:0003738	biolink:NamedThing	selective IgE deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.	mondoexuq1wtf	selective IgE immunodeficiency|selective immunoglobulin E deficiency											ICD9:279.03|NCIT:C27143|SCTID:234540007|DOID:6024|UMLS:C0398694																		owl:Class
MONDO:0004697	biolink:NamedThing	esophageal leukoplakia	A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.	mondoexuq1wtf	esophagus leukoplakia|leukoplakia of the esophagus|esophageal leukoplakia|esophageal leukoplakia (disease)|leukoplakia of esophagus|esophageal epidermoid metaplasia		esophageal leukoplakia (disease)									SCTID:89057003|HP:0012859|DOID:9021|NCIT:C3953|ICD9:530.83|UMLS:C0267095																		owl:Class
MONDO:0020216	biolink:NamedThing	secondary dysgenetic glaucoma	A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma.	mondoexuq1wtf	secondary congenital glaucoma											Orphanet:98631																		owl:Class
MONDO:0033642	biolink:NamedThing	neurodevelopmental disorder with alopecia and brain abnormalities		mondoexuq1wtf	NEDABA											OMIM:619075																		owl:Class
MONDO:0003019	biolink:NamedThing	potassium deficiency disease	Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.	mondoexuq1wtf	hypopotassemia|hypokalemia|potassium deficiency disorder					Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT						MESH:D007008|DOID:4500|NCIT:C34939|COHD:437833|ICD10:E87.6|UMLS:C1514284|HP:0002900|ICD9:276.8|SCTID:43339004																		owl:Class
MONDO:0000390	biolink:NamedThing	vitelliform macular dystrophy	A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.	mondoexuq1wtf	vitelliform macular dystrophy|macular dystrophy, vitelliform											SCTID:90036004|OMIMPS:153840|MESH:D057826|UMLS:C0339510|DOID:0050661|NCIT:C118788|ICD10:H35.5																		owl:Class
MONDO:0005820	biolink:NamedThing	Lassa fever	A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.	mondoexuq1wtf	LF|Lassa hemorrhagic fever											UMLS:C0023092|ICD10:A96.2|DOID:9537|SCTID:19065005|NCIT:C128418|EFO:0007338|MedDRA:10023927|MESH:D007835|Orphanet:99824|ICD9:078.89																		owl:Class
MONDO:0012554	biolink:NamedThing	cerebrooculofacioskeletal syndrome 4	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.	mondoexuq1wtf	cerebrooculofacioskeletal syndrome 4|cerebrooculofacioskeletal syndrome type 4|ERCC1 COFS syndrome|COFS syndrome caused by mutation in ERCC1|COFS4											MESH:C565184|UMLS:C1853100|NCIT:C173104|OMIM:610758																		owl:Class
MONDO:0008926	biolink:NamedThing	COFS syndrome	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.	mondoexuq1wtf	Pena-Shokeir syndrome type 2|cerebrooculofacioskeletal syndrome|cerebro-oculo-facio-skeletal syndrome|COFS											OMIMPS:214150|NCIT:C3817|Orphanet:1466|UMLS:C0220722|ICD10:Q87.1|GARD:0006027|DC:0000076																		owl:Class
MONDO:0008641	biolink:NamedThing	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.	mondoexuq1wtf	grand-Kaine-fulling syndrome|cerebroretinal vasculopathy, hereditary|retinal vasculopathy with cerebral leukodystrophy|HVR|retinal vasculopathy and cerebral leukoencephalopathy|grand Kaine fulling syndrome|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|cerebroretinal vasculopathy|RVCL-S|hereditary vascular retinopathy|CRV|ADRVCL|vasculopathy, retinal, with cerebral leukodystrophy|RVCL					Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1						Orphanet:247691|MESH:C566007|GARD:0002558|UMLS:C1860518|SCTID:721141004|GARD:0001217|GARD:0010535|DOID:0111567|OMIM:192315|SCTID:720854004														https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome|https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy|https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy				owl:Class
MONDO:0015537	biolink:NamedThing	necrobiotic xanthogranuloma	A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.	mondoexuq1wtf	NXG											UMLS:C1275339|SCTID:404164003|Orphanet:158011|GARD:0010951|ICD9:709.8|EFO:1001376|ICD10:D76.3|MESH:D058252														https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma				owl:Class
MONDO:0017011	biolink:NamedThing	uniparental disomy of chromosome X		mondoexuq1wtf	uniparental disomy of chromosome type X|UPD(X)											Orphanet:263793|ICD10:Q99.8																		owl:Class
MONDO:0014574	biolink:NamedThing	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome		mondoexuq1wtf	plack|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome|plack syndrome											OMIM:616295|Orphanet:444138|ICD10:Q82.8|UMLS:C4225381																		owl:Class
MONDO:0016518	biolink:NamedThing	isolated punctate palmoplantar keratoderma	A punctate palmoplantar keratoderma that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic punctate palmoplantar keratoderma|isolated punctate PPK|isolated punctate palmoplantar hyperkeratosis											ICD10:Q82.8|Orphanet:2338																		owl:Class
MONDO:0010098	biolink:NamedThing	taurodontism	Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.	mondoexuq1wtf	large pulp chambers in the molars|Bull teeth|taurodontism|taurodontism (disease)		taurodontism (disease)									SCTID:51744007|ICD10:K00.2|UMLS:C0266039|Orphanet:3289|HP:0000679|OMIM:272700|GARD:0005119|MESH:C536946																		owl:Class
MONDO:0012681	biolink:NamedThing	febrile seizures, familial, 7		mondoexuq1wtf	febrile seizures, familial, 7|FEB7|febrile convulsions, familial, 7											MESH:C566929|DOID:0111311|UMLS:C1969087|OMIM:611515																		owl:Class
MONDO:0016666	biolink:NamedThing	unexplained long-lasting fever/inflammatory syndrome		mondoexuq1wtf												UMLS:CN201905|Orphanet:251332																		owl:Class
MONDO:0011508	biolink:NamedThing	lymphoma, non-Hodgkin, familial		mondoexuq1wtf	non-Hodgkin lymphoma|lymphoma, non-Hodgkin, familial											OMIM:605027|ICD9:202.80|SCTID:118601006																		owl:Class
MONDO:0011616	biolink:NamedThing	holoprosencephaly 6	A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.	mondoexuq1wtf	holoprosencephaly type 6|holoprosencephaly 6|HPE6											UMLS:C1853830|OMIM:605934|MESH:C565274|DOID:0110874																		owl:Class
MONDO:0001666	biolink:NamedThing	retinal dystrophies primarily involving Bruch's membrane	A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.	mondoexuq1wtf	retinal dystrophies primarily involving Bruch membrane|inherited retinal dystrophy of Bruch's membrane|Bruch's membrane inherited retinal dystrophy					Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping						ICD9:362.77|DOID:13227																		owl:Class
MONDO:0100411	biolink:NamedThing	acute myeloid leukemia, NPM1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly NPM1 gene mutation. (Mutation of the nucleophosmin gene. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)	mondoexuq1wtf	AML, NPM1 Mutation|AML, Mutation of the Nucleophosmin Gene|AML, NPM1 gene mutation|AML, Nucleophosmin Gene Mutation					term to merged with: MONDO:0044923 'acute myeloid leukemia with mutated NPM1'																				https://github.com/monarch-initiative/mondo/issues/3583				owl:Class
MONDO:0020477	biolink:NamedThing	progeria-associated arthropathy		mondoexuq1wtf												Orphanet:99706																		owl:Class
MONDO:0014788	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2W	Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	mondoexuq1wtf	autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|muscular dystrophy, limb-girdle, type 2W|muscular dystrophy, limb-girdle, type 2w|LGMD2W|LIMS2 autosomal recessive limb-girdle muscular dystrophy											OMIM:616827|UMLS:C4225192|Orphanet:466801|DOID:0110288																		owl:Class
MONDO:0005549	biolink:NamedThing	renal cell adenocarcinoma	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.	mondoexuq1wtf	adenocarcinoma of kidney|RCC|carcinoma, renal cell, malignant|renal cell carcinoma|kidney adenocarcinoma|renal cell adenocarcinoma|renal cell cancer|adenocarcinoma of the kidney|renal cell carcinoma, stage unspecified					Editor note: check relationship to RCC						ICDO:8312/3|EFO:0005708|NCIT:C9385|ICDO:8311/1																		owl:Class
MONDO:0008927	biolink:NamedThing	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome		mondoexuq1wtf	optic DISC anomalies with retinal and/or macular dystrophy|ODRMD											Orphanet:435930|OMIM:212550|ICD10:Q14.8|DOID:0080635|UMLS:CN237578|MESH:C565876																		owl:Class
MONDO:0004857	biolink:NamedThing	tendinitis	Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.	mondoexuq1wtf	inflammation of tendon|tendon inflammation|tendonitis											MESH:D052256|SCTID:34840004|UMLS:C0039503|DOID:971|ICD10:M77.9|NCIT:C97141																		owl:Class
MONDO:0016281	biolink:NamedThing	46,XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.	mondoexuq1wtf	46,XX ovotesticular DSD|true hermaphroditism|ovotesticular differences of Sex development|ovotesticular disorders of Sex development|ovotesticular DSD											Orphanet:2138|MESH:D050090|NCIT:C127167|UMLS:CN776920|UMLS:C2748895|ICD10:Q56.0|SCTID:18978002																		owl:Class
MONDO:0014484	biolink:NamedThing	microcephaly 12, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.	mondoexuq1wtf	CDK6 autosomal recessive primary microcephaly|microcephaly 12, primary, autosomal recessive|MCPH12|autosomal recessive primary microcephaly caused by mutation in CDK6											DOID:0070284|OMIM:616080|UMLS:C4015156																		owl:Class
MONDO:0043089	biolink:NamedThing	acute posterior multifocal placoid pigment epitheliopathy	Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.	mondoexuq1wtf	amppe - acute multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|acute placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy|acute multifocal placoid pigment epitheliopathy|multifocal placoid pigment epitheliopathy|AMPPE|epitheliopathy, acute posterior multifocal placoid pigment|APMPPE|apmppe											GARD:0002183|UMLS:C0154884|SCTID:89188001																		owl:Class
MONDO:0023833	biolink:NamedThing	multifocal choroiditis	Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.	mondoexuq1wtf												GARD:0009824|SCTID:414783007|UMLS:C1533060|MESH:C537374														https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis				owl:Class
MONDO:0006509	biolink:NamedThing	papillary carcinoma	A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.	mondoexuq1wtf	papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma|papillary carcinoma (morphologic abnormality)											EFO:1000646|ICDO:8050/3|UMLS:C0007133|MESH:D002291|NCIT:C2927|DOID:3113																		owl:Class
MONDO:0007838	biolink:NamedThing	Jacobsen syndrome	Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.	mondoexuq1wtf	JBS|Del(11)(qter)|partial 11q monosomy syndrome|distal deletion 11q|Jacobsen syndrome|monosomy 11qter|Del(11)(q23.3)|chromosome 11q deletion syndrome|11q terminal deletion disorder|distal monosomy 11q|telomeric deletion 11q											UMLS:C0795841|NCIT:C75457|SCTID:715438008|DOID:0111723|ICD10:Q93.5|GARD:0000307|Orphanet:2308|OMIM:147791																		owl:Class
MONDO:0019790	biolink:NamedThing	neuroleptic malignant syndrome	Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.	mondoexuq1wtf	NMS											UMLS:C0027849|EFO:1001379|SCTID:15244003|ICD9:333.92|MedDRA:10029282|ICD10:G21.0|MESH:D009459|GARD:0007195|Orphanet:94093|DOID:14464|COHD:379802|NCIT:C94829														https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome				owl:Class
MONDO:0018595	biolink:NamedThing	single-organ polyarteritis nodosa	Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.	mondoexuq1wtf	single-organ periarteritis nodosa|single-organ PAN											UMLS:CN242112|ICD10:M30.0|Orphanet:439755																		owl:Class
MONDO:0018593	biolink:NamedThing	primary polyarteritis nodosa		mondoexuq1wtf	primary periarteritis nodosa|primary PAN											Orphanet:439737|ICD10:M30.0|UMLS:CN237623																		owl:Class
MONDO:0007055	biolink:NamedThing	acromicric dysplasia	Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.	mondoexuq1wtf	ACMICD|acromicric skeletal dysplasia|acromicric dysplasia											OMIM:102370|ICD10:Q77.8|MESH:C535662|ICD9:756.59|Orphanet:969|DOID:0111243|SCTID:254090007|GARD:0000007														https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia				owl:Class
MONDO:0018705	biolink:NamedThing	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome		mondoexuq1wtf	axonal neuropathy-optic atrophy-cognitive deficit syndrome|ANOAC											UMLS:CN242083|Orphanet:457205																		owl:Class
MONDO:0019468	biolink:NamedThing	T-cell prolymphocytic leukemia	A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.	mondoexuq1wtf	T-cell CLL|TPLL|T-cell chronic lymphocytic leukemia|T-PLL|T cell prolymphocytic leukemia|T-cell prolymphocytic leukemia|T cell chronic lymphocytic leukemia|T prolymphocytic leukemia|chronic T-cell leukemia|CLL, T-cell|chronic T-cell lymphocytic leukemia|leukemia, T-cell, chronic|T cell CLL											NCIT:C4752|EFO:1000560|MedDRA:10042985|Orphanet:86871|GARD:0008224|UMLS:C2363142|ONCOTREE:TPLL|ICDO:9834/3|UMLS:C0023494|ICD10:C91.6|SCTID:277567002|NCIT:C70649|SCTID:277545003|MESH:D015461																		owl:Class
MONDO:0001023	biolink:NamedThing	prolymphocytic leukemia	A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.	mondoexuq1wtf	prolymphocytic leukemia|prolymphocytic leukemia (B or T-cell)|PLL|prolymphocytic leukemia (B or T)											UMLS:C0023486|SCTID:110006004|ICD9:204.80|MESH:D015463|NCIT:C3181|DOID:1039|ICDO:9832/3|GARD:0011965																		owl:Class
MONDO:0041366	biolink:NamedThing	acute epiglottitis	Acute form of epiglottitis.	mondoexuq1wtf	acute epiglottitis|acute epiglottitis and supraglottitis|epiglottitis, acute											SCTID:29608009																		owl:Class
MONDO:0005753	biolink:NamedThing	epiglottitis	Inflammation of the epiglottis.	mondoexuq1wtf	supraglottitis|inflammation of mucosa of epiglottis|mucosa of epiglottis inflammation|acute epiglottitis and supraglottitis											UMLS:C0014541|ICD10:J05.1|MESH:D004826|EFO:0007261|SCTID:80384002|NCIT:C116007|COHD:4105773|ICD9:464.3|DOID:9398|ICD10:J05.10																		owl:Class
MONDO:0013757	biolink:NamedThing	congenital nongoitrous hypothryoidism 6	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.	mondoexuq1wtf	CHNG6|hypothyroidism, congenital, nongoitrous, 6|congenital nongoitrous hypothyroidism 6|THRA hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous, type 6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA											UMLS:C3280817|OMIM:614450|ICD10:E03.1|DOID:0070128																		owl:Class
MONDO:0002946	biolink:NamedThing	gynatresia	A congenital or acquired occlusion of an opening in any part of the female genital tract.	mondoexuq1wtf												DOID:429|NCIT:C84743|MESH:D006175|EFO:1001335|UMLS:C0018414																		owl:Class
MONDO:0030938	biolink:NamedThing	spermatogenic failure 52		mondoexuq1wtf	spermatogenic failure 52|SPGF52											OMIM:619202																		owl:Class
MONDO:0100294	biolink:NamedThing	mitochondrial complex II deficiency, nuclear type 1	Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.	mondoexuq1wtf	mitochondrial complex II deficiency|succinate CoQ reductase deficiency|isolated succinate-coenzyme Q reductase deficiency|mitochondrial complex 2 deficiency|mitochondrial respiratory chain complex II deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-CoQ reductase deficiency|complex 2 mitochondrial respiratory chain deficiency|isolated mitochondrial respiratory chain complex II deficiency|succinate dehydrogenase deficiency							http://orcid.org/0000-0001-5208-3432				SCTID:124165006|Orphanet:3208|OMIM:252011|ICD9:277.6|MESH:C565375|ICD10:G71.3|DOID:0060537|GARD:0005053														https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency				owl:Class
MONDO:0006932	biolink:NamedThing	pulmonary edema	Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).	mondoexuq1wtf	edema, pulmonary											UMLS:C0034063|MedDRA:10037375|NCIT:C26868|EFO:1001134|SCTID:19242006|MESH:D011654|DOID:11396|ICD10:J81.1|ICD10:J81																		owl:Class
MONDO:0001208	biolink:NamedThing	acute respiratory failure	Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.	mondoexuq1wtf	respiratory failure, acute|acute respiratory failure											UMLS:C0264490|COHD:319049|SCTID:65710008|NCIT:C27043|ICD9:518.81																		owl:Class
MONDO:0008715	biolink:NamedThing	acrofrontofacionasal dysostosis	A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.	mondoexuq1wtf	polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|acrofrontofacionasal dysostosis 1|acro fronto facio nasal dysostosis|acrofrontofacionasal dysostosis type 1|Affn dysostosis 1|Richieri-Costa-Colletto syndrome|cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|AFFN dysostosis|acrofrontofacionasal dysostosis syndrome											Orphanet:1784|UMLS:C1860118|DOID:0060226|SCTID:720408003|ICD10:Q75.1|GARD:0000484																		owl:Class
MONDO:0014658	biolink:NamedThing	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	mondoexuq1wtf	achondroplasia, severe, with developmental delay and acanthosis nigricans|SADDAN dysplasia|SADDAN|severe achondroplasia with developmental delay and acanthosis nigricans											Orphanet:85165|SCTID:699870002|PMID:10053006|url:https://ghr.nlm.nih.gov/condition/saddan|ICD9:757.39|DOID:0111158|ICD9:783.40|GARD:0009443|OMIM:616482|ICD10:Q77.4																		owl:Class
MONDO:0003479	biolink:NamedThing	toxic pneumonitis	A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.	mondoexuq1wtf	acute chemical fume pulmonary edema|acute chemical pulmonary edema											DOID:551|SCTID:233733000|ICD9:506.9|UMLS:C3714582																		owl:Class
MONDO:0002694	biolink:NamedThing	cavernous sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)	mondoexuq1wtf	thrombosis of cavernous venous sinus											DOID:3575|MESH:D020226|UMLS:C0238454|SCTID:89980009																		owl:Class
MONDO:0018091	biolink:NamedThing	microcephaly-brachydactyly-kyphoscoliosis syndrome	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	mondoexuq1wtf	microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis|Viljoen Kallis Voges syndrome|Viljoen-Kallis-Voges syndrome											GARD:0005490|ICD10:Q87.8|SCTID:719378009|UMLS:C2931177|MESH:C536349|Orphanet:3433														https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome				owl:Class
MONDO:0002036	biolink:NamedThing	penile disease	A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	mondoexuq1wtf	penile disorder|disease of penis|penis disease or disorder|disease or disorder of penis|penile disease|disorder of penis|penis disease											MESH:D010409|SCTID:33958003|NCIT:C26846|ICD9:607.9|ICD9:607.89|ICD10:N48.89|ICD10:N48.8|DOID:1529|UMLS:C0030846|ICD9:607.8																		owl:Class
MONDO:0007746	biolink:NamedThing	orthostatic hypotensive disorder, Streeten type		mondoexuq1wtf	orthostatic hypotensive disorder|hyperbradykininism|orthostatic hypotensive disorder, Streeten type|OHDS											MESH:C564174|OMIM:143850|UMLS:C1840438																		owl:Class
MONDO:0012478	biolink:NamedThing	orofacial cleft 9		mondoexuq1wtf	OFC9|cleft lip with or without cleft palate, nonsyndromic, 9|orofacial cleft 9											DOID:0080402|UMLS:C1835894|OMIM:610361|MESH:C563675																		owl:Class
MONDO:0009762	biolink:NamedThing	nystagmus, congenital, autosomal recessive		mondoexuq1wtf	nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive											UMLS:C3151571|OMIM:257400|MESH:C564938|GARD:0009609																		owl:Class
MONDO:0024337	biolink:NamedThing	urothelial neoplasm	A neoplasm involving a urothelium.	mondoexuq1wtf	urothelial neoplasm|urothelium tumor|tumor of urothelium|transitional cell neoplasm of the urinary tract|urothelium neoplasm|neoplasm of urothelium|urothelium neoplasm (disease)											UMLS:C1519840|NCIT:C39852																		owl:Class
MONDO:0005629	biolink:NamedThing	Acanthamoeba keratitis	Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.	mondoexuq1wtf	Acanthamoeba caused keratitis|keratitis, Acanthamoeba											NCIT:C50450|EFO:0007126|ICD9:370.8|SCTID:231896005|Orphanet:67043|GARD:0009285|MedDRA:10069408|ICD10:H19.2*|ICD10:B60.1+|UMLS:C0000880|MESH:D015823														https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis				owl:Class
MONDO:0019197	biolink:NamedThing	folinic acid-responsive seizures	Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	mondoexuq1wtf	Folinic acid responsive seizures					Editor note: TODO request from CHEBI						SCTID:717276003|UMLS:CN205780|ICD10:G40.3|Orphanet:79097																		owl:Class
MONDO:0044092	biolink:NamedThing	collagenous sprue	A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.	mondoexuq1wtf	collagenous Sprues|collagenous enteropathy|sprue, collagenous|collagenous sprue|non-gluten sensitive enteropathy syndrome|non-gluten intolerance syndrome|collagenous enteropathy syndrome|Sprues, collagenous											NCIT:C45426|MESH:D064068|SCTID:61738006|UMLS:C0341299																		owl:Class
MONDO:0100269	biolink:NamedThing	peroxisome biogenesis disorder due to PEX16 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX16 defect|PEX16 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0008129	biolink:NamedThing	ophthalmoplegia, familial total, with iris transillumination		mondoexuq1wtf	ophthalmoplegia, familial total, with iris transillumination											UMLS:C1833836|MESH:C563499|OMIM:165098																		owl:Class
MONDO:0011635	biolink:NamedThing	goiter, multinodular 3		mondoexuq1wtf	goiter, multinodular 3|MNG3											OMIM:606082|UMLS:C1853686|MESH:C565260																		owl:Class
MONDO:0000334	biolink:NamedThing	multinodular goiter	Nodular goiter characterized by more than one discrete tissue mass.	mondoexuq1wtf	goiter, multinodular											OMIMPS:138800|UMLS:C0342208|NCIT:C131438|DOID:0050489|SCTID:237570007																		owl:Class
MONDO:0014425	biolink:NamedThing	hereditary persistence of alpha-fetoprotein	Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy	mondoexuq1wtf	HPAFP|ALPHA-fetoprotein, hereditary persistence OF											OMIM:615970|Orphanet:168615|SCTID:716697002																		owl:Class
MONDO:0018344	biolink:NamedThing	periodic paralysis with transient compartment-like syndrome		mondoexuq1wtf												ICD10:G72.3|UMLS:CN226077|Orphanet:397755																		owl:Class
MONDO:0016122	biolink:NamedThing	periodic paralysis		mondoexuq1wtf	periodic paralysis|periodic paralysis (disease)		periodic paralysis (disease)			Editor note: classified as genetic in ORDO but we treat as neutral here						Orphanet:206976|UMLS:CN231077|ICD10:G72.3|HP:0003768|MedDRA:10016208|UMLS:C1279412																		owl:Class
MONDO:0024617	biolink:NamedThing	xanthogranuloma		mondoexuq1wtf	xanthogranuloma											SCTID:189099001|NCIT:C27302																		owl:Class
MONDO:0013113	biolink:NamedThing	metaphyseal anadysplasia 2	Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.	mondoexuq1wtf	metaphyseal anadysplasia type 2|MANDP2|MMP9 metaphyseal anadysplasia|metaphyseal anadysplasia 2|metaphyseal anadysplasia caused by mutation in MMP9											OMIM:613073|UMLS:C2751322|MESH:C567771																		owl:Class
MONDO:0015177	biolink:NamedThing	metaphyseal anadysplasia	Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.	mondoexuq1wtf	MAD|early-onset regressive form of metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|regressive metaphyseal dysplasia|Maroteaux-Verloes-Stanescu syndrome											MESH:C537351|ICD9:756.9|GARD:0003562|UMLS:C0432226|ICD10:Q78.5|Orphanet:1040|SCTID:254085009														https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia				owl:Class
MONDO:0020763	biolink:NamedThing	Menke-Hennekam syndrome 1		mondoexuq1wtf	MKHK1|Menke-Hennekam syndrome 1											OMIM:618332																		owl:Class
MONDO:0020774	biolink:NamedThing	Menke-Hennekam syndrome		mondoexuq1wtf												OMIMPS:618332|Orphanet:592574																		owl:Class
MONDO:0012757	biolink:NamedThing	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	mondoexuq1wtf	immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis											Orphanet:137631|SCTID:721977007|UMLS:C3150156|OMIM:611926|ICD10:D82.8																		owl:Class
MONDO:0017965	biolink:NamedThing	syndrome with 46,XX disorder of sex development		mondoexuq1wtf	syndrome with 46,XX DSD											Orphanet:325109|UMLS:CN204115																		owl:Class
MONDO:0010867	biolink:NamedThing	PARC syndrome	PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	mondoexuq1wtf	PARC syndrome|poikiloderma-alopecia-retrognathism-cleft palate syndrome|poikiloderma, alopecia, retrognathism, and cleft palate											GARD:0004223|MESH:C537174|Orphanet:2825|ICD10:Q87.8|UMLS:C1838256|OMIM:600331														https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome				owl:Class
MONDO:0002368	biolink:NamedThing	papillary serous cystadenocarcinoma	A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	mondoexuq1wtf	papillary serous adenocarcinoma|micropapillary serous carcinoma|papillary serous carcinoma|papillary serous cystadenocarcinoma|serous surface papillary carcinoma (morphologic abnormality)											DOID:2632|SCTID:716649003|ICDO:8460/3|UMLS:C0334359|NCIT:C8377																		owl:Class
MONDO:0005074	biolink:NamedThing	papillary cystadenocarcinoma	A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	mondoexuq1wtf	cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma, NOS (morphologic abnormality)|papillary cystadenocarcinoma (morphologic abnormality)|papillary cystadenocarcinoma											MESH:D018283|GARD:0010162|DOID:3110|NCIT:C3777|UMLS:C0206700|EFO:0000639|ICDO:8450/3														https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma				owl:Class
MONDO:0007083	biolink:NamedThing	autosomal dominant palmoplantar keratoderma and congenital alopecia	Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	mondoexuq1wtf	palmoplantar keratoderma and congenital alopecia type 1|alopecia congenita with hyperkeratosis of the palms and soles|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, Stevanovic type|PPKCA1|Ppkca, Stevanovic type|PPK-CA, Stevanovic type|palmoplantar keratoderma and congenital alopecia 1											GARD:0000604|OMIM:104100|SCTID:719518004|Orphanet:1010|ICD10:Q82.8														https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia				owl:Class
MONDO:0018759	biolink:NamedThing	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome		mondoexuq1wtf												Orphanet:466921|UMLS:CN776870																		owl:Class
MONDO:0032567	biolink:NamedThing	isolated growth hormone deficiency, type 4		mondoexuq1wtf	Dwarfism of Sindh|Isolated Growth Hormone Deficiency, Type Ib|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV|IGHD4|Isolated Growth Hormone Deficiency, Type Ib, Formerly											OMIM:618157																		owl:Class
MONDO:0004242	biolink:NamedThing	active peptic ulcer disease		mondoexuq1wtf	GI bleeding											SCTID:74474003|DOID:749|ICD9:578.9																		owl:Class
MONDO:0021164	biolink:NamedThing	posthitis	An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.	mondoexuq1wtf	inflammation of prepuce of penis|prepuce of penis inflammation											UMLS:C0235640|SCTID:44318002																		owl:Class
MONDO:0010163	biolink:NamedThing	Tyrosinosis		mondoexuq1wtf	Tyrosinosis											SCTID:57414003|MESH:C562659|ICD9:270.2|OMIM:276800|UMLS:C0268484																		owl:Class
MONDO:0060592	biolink:NamedThing	Sweeney-Cox syndrome		mondoexuq1wtf	SWCOS|Sweeney-Cox syndrome											UMLS:C4540299|OMIM:617746|DOID:0080538																		owl:Class
MONDO:0020636	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to a complete deficiency		mondoexuq1wtf																														owl:Class
MONDO:0019146	biolink:NamedThing	inherited susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.	mondoexuq1wtf	idiopathic infection caused by BCG or atypical mycobacteria|Mendelian susceptibility to atypical mycobacteria|MSMD|Mycobacterium genetic susceptibility to infections due to particular pathogens|Mendelian susceptibility to mycobacterial infections|Mycobacterium caused genetic susceptibility to infections due to particular pathogens											Orphanet:748|GARD:0012977|UMLS:C3266863|UMLS:CN181681|ICD10:D84.8																		owl:Class
MONDO:0019460	biolink:NamedThing	acute leukemia of ambiguous lineage	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)	mondoexuq1wtf	biphenotypic acute leukemia|mixed lineage acute leukemia|acute leukemia of indeterminate lineage|ALL with myeloid markers|mixed phenotype acute leukemia|AML with lymphoid markers|acute leukemia of undetermined lineage|acute leukemia of ambiguous lineage|hybrid acute leukemia|BAL											SCTID:721308005|MedDRA:10067399|UMLS:C1301357|GARD:0008638|Orphanet:86851|NCIT:C7464|ICD10:C95.0																		owl:Class
MONDO:0012532	biolink:NamedThing	hereditary hemorrhagic telangiectasia type 4		mondoexuq1wtf	telangiectasia, hereditary hemorrhagic, type 4|HHT4											OMIM:610655|GARD:0010615|MESH:C565691														https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4				owl:Class
MONDO:0022901	biolink:NamedThing	Crohn disease of the esophagus	An Crohn disease involving a pathogenic inflammatory response in the esophagus.	mondoexuq1wtf	Crohn's disease of the esophagus											GARD:0000203|UMLS:C0341116																		owl:Class
MONDO:0006279	biolink:NamedThing	lung sarcomatoid carcinoma	A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.	mondoexuq1wtf	sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma											SCTID:707460002|ICD9:162.9|ONCOTREE:SARCL|EFO:1000336|NCIT:C45540																		owl:Class
MONDO:0003300	biolink:NamedThing	appendix leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	appendix leiomyoma|leiomyoma of vermiform appendix|vermiform appendix leiomyoma|appendiceal leiomyoma|leiomyoma of the appendix|leiomyoma of appendix											DOID:5146|NCIT:C5514|UMLS:C1332327																		owl:Class
MONDO:0011100	biolink:NamedThing	microcephaly, retinitis pigmentosa, and sutural cataract		mondoexuq1wtf	microcephaly, retinitis pigmentosa, and sutural cataract											OMIM:601537|UMLS:C1832214|MESH:C563296																		owl:Class
MONDO:0015430	biolink:NamedThing	ring chromosome 1	Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	mondoexuq1wtf	r(1) syndrome|Ring 1|Ring chromosome type 1|chromosome 1, ring|chromosome 1 ring|Ring chromosome 1 syndrome|R1											NCIT:C36474|MESH:C535361|GARD:0001320|GTR:AN0102272|ICD10:Q93.2|SCTID:47017007|UMLS:CN036412|Orphanet:1437																		owl:Class
MONDO:0004195	biolink:NamedThing	thymic dysplasia	The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.	mondoexuq1wtf												UMLS:C1331541|DOID:7350|NCIT:C27802																		owl:Class
MONDO:0003393	biolink:NamedThing	thymus gland disease	A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.	mondoexuq1wtf	disorder of thymus|disorder of thymus gland|thymus disease|thymus disorder|disease or disorder of thymus|thymus disease or disorder|disease of thymus|disease of thymus gland|Thymus disorder											SCTID:20673009|ICD10:E32|DOID:533|NCIT:C26962|ICD10:E32.9|ICD9:254.9|ICD9:254|UMLS:C0154199																		owl:Class
MONDO:0012579	biolink:NamedThing	autoimmune pulmonary alveolar proteinosis	Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).	mondoexuq1wtf	pulmonary alveolar proteinosis acquired|PAP|pulmonary alveolar proteinosis, autoimmune|Pap, acquired|autoimmune PAP|idiopathic PAP|APAP|idiopathic pulmonary alveolar proteinosis|pulmonary alveolar lipoproteinosis acquired|pulmonary alveolar lipoproteinosis, acquired|PAP acquired|acquired pulmonary alveolar proteinosis|iPAP|pulmonary alveolar proteinosis autoimmune|pulmonary alveolar proteinosis, acquired											MESH:C567049|UMLS:C1970472|GARD:0007499|SCTID:707443007|Orphanet:747|ICD10:J84.0|OMIM:610910														https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis				owl:Class
MONDO:0006103	biolink:NamedThing	benign adrenal gland pheochromocytoma	A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.	mondoexuq1wtf	pheochromocytoma, benign|adrenal gland pheochromocytoma, benign|benign adrenal gland pheochromocytoma											NCIT:C48305|EFO:1000106																		owl:Class
MONDO:0014417	biolink:NamedThing	spinocerebellar ataxia type 38	Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.	mondoexuq1wtf	spinocerebellar ataxia 38|spinocerebellar ataxia type 38|SCA38											UMLS:C4014812|EFO:0009056|DOID:0050985|Orphanet:423296|OMIM:615957|ICD10:G11.8|UMLS:C4518337|GARD:0012369|SCTID:734021001																		owl:Class
MONDO:0020142	biolink:NamedThing	metabolic disease with dementia		mondoexuq1wtf												Orphanet:98543|UMLS:CN207023																		owl:Class
MONDO:0016188	biolink:NamedThing	qualitative or quantitative defects of alphaB-cristallin		mondoexuq1wtf												Orphanet:209044																		owl:Class
MONDO:0016186	biolink:NamedThing	qualitative or quantitative defects of myofibrillar proteins		mondoexuq1wtf												Orphanet:209038																		owl:Class
MONDO:0011452	biolink:NamedThing	hypotrichosis 7	Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.	mondoexuq1wtf	total hypotrichosis, Mari type|total Mari type hypotrichosis,|Mari type alopecia universalis congenita|hypotrichosis, total, Mari type|HYPT7|Wh/Ht|Lah2|alopecia universalis congenita, Mari type|hypotrichosis, localized, autosomal recessive 2|hypotrichosis caused by mutation in LIPH|hypotrichosis 7|woolly hair, autosomal recessive 2, with or without hypotrichosis|hypotrichosis, autosomal recessive|hypotrichosis type 7|LIPH hypotrichosis											OMIM:604379|DOID:0110704|EFO:0009163|MESH:C536973|GARD:0008178																		owl:Class
MONDO:0012862	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 5		mondoexuq1wtf	motor timing quantitative trait locus|attention deficit-hyperactivity disorder, susceptibility to, 5|attention Deficit-hyperactivity disorder, susceptibility to, type 5|Adhd5											OMIM:612311																		owl:Class
MONDO:0019398	biolink:NamedThing	desmin-related myopathy with Mallory body-like inclusions		mondoexuq1wtf	early-onset desmin-related myopathy											ICD10:G71.8|Orphanet:84132																		owl:Class
MONDO:0004677	biolink:NamedThing	tinea nigra	A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.	mondoexuq1wtf	keratomycosis nigricans|Tinea palmaris nigra|microsporosis nigra|infection by Cladosporium werneckii											SCTID:183342005|ICD10:B36.1|COHD:134865|UMLS:C0152067|ICD9:111.1|DOID:8912																		owl:Class
MONDO:0024268	biolink:NamedThing	superficial mycosis	A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.	mondoexuq1wtf	stratum corneum of epidermis fungal infectious disease|piedra|steroid-modified tinea infection											UMLS:C2980104|SCTID:276206000|ICD10:B36.9|COHD:4077081|ICD9:117.9|DOID:0050133																		owl:Class
MONDO:0011343	biolink:NamedThing	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts		mondoexuq1wtf	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts											OMIM:603587|MESH:C566360|UMLS:C1863692																		owl:Class
MONDO:0000893	biolink:NamedThing	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.	mondoexuq1wtf	mixed mucinous and non-mucinous bronchoalveolar lung carcinoma|indeterminate bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma											ICDO:8254/3|NCIT:C7270|UMLS:C1266036|DOID:0080184																		owl:Class
MONDO:0004991	biolink:NamedThing	minimally invasive lung adenocarcinoma	A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.	mondoexuq1wtf	bronchioloalveolar carcinoma|bronchiolo-alveolar adenocarcinoma|bac|minimally invasive lung adenocarcinoma|bronchioloalveolar lung adenocarcinoma|bronchiolo-alveolar carcinoma of the lung|bronchiolo-alveolar lung carcinoma|bronchioalveolar lung carcinoma|bronchioloalveolar adenocarcinoma of the lung|bronchiolo-alveolar carcinoma of lung|bronchioloalveolar adenocarcinoma of lung|bronchioalveolar adenocarcinoma of the lung|carcinoma, bronchioloalveolar, malignant|bronchioalveolar adenocarcinoma of lung											SCTID:373627005|ICDO:8251/3|ICD9:162.9|ICDO:8250/3|DOID:4926|NCIT:C2923|MESH:D002282|EFO:0000308																		owl:Class
MONDO:0014046	biolink:NamedThing	Cowden syndrome 4	Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.	mondoexuq1wtf	KLLN Cowden disease|Cowden syndrome 4|CWS4|Cowden syndrome type 4|Cowden disease caused by mutation in KLLN											OMIM:615107|UMLS:C3554517																		owl:Class
MONDO:0022854	biolink:NamedThing	congenital unilateral pulmonary hypoplasia		mondoexuq1wtf												GARD:0001507														https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia				owl:Class
MONDO:0021629	biolink:NamedThing	uterine ligament neoplasm	A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.	mondoexuq1wtf	uterine ligament neoplasm (disease)|neoplasm of uterine ligament|tumor of uterine ligament|neoplasm of the uterine ligament|uterine ligament tumor|tumor of the uterine ligament|uterine ligament neoplasm											NCIT:C40133|UMLS:C1519870																		owl:Class
MONDO:0100086	biolink:NamedThing	perinatal disease	A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.	mondoexuq1wtf	perinatal condition|perinatal disorder							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0018825	biolink:NamedThing	PYCR2-related microcephaly-progressive leukoencephalopathy	PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	mondoexuq1wtf												Orphanet:481152																		owl:Class
MONDO:0005175	biolink:NamedThing	aggressive insulitis	Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.	mondoexuq1wtf												EFO:0002498																		owl:Class
MONDO:0015277	biolink:NamedThing	medullary thyroid gland carcinoma	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.	mondoexuq1wtf	thyroid gland medullary carcinoma|carcinoma, C-cell, malignant|medullary carcinoma of the thyroid gland|medullary carcinoma|carcinoma of parafollicular cell|medullary carcinoma of thyroid|medullary carcinoma of thyroid gland|medullary carcinoma of the thyroid|medullary thyroid carcinoma|ultimobranchial thyroid tumor|thyroid gland neuroendocrine carcinoma|C cell carcinoma|medullary thyroid gland carcinoma|ultimobranchial thyroid tumour|thyroid gland medullary cancer|medullary thyroid cancer (MTC)|THME|thyroid carcinoma, medullary|thyroid medullary carcinoma|thyroid cancer, medullary|parafollicular cell carcinoma|MTC|medullary thyroid cancer											NCIT:C3879|MedDRA:10027101|Orphanet:1332|UMLS:C0238462|HP:0002865|ONCOTREE:THME|ICD10:C73|UMLS:C0206693|GARD:0007004|DOID:3973|SCTID:255032005																		owl:Class
MONDO:0009901	biolink:NamedThing	Bartsocas-Papas syndrome	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	mondoexuq1wtf	autosomal recessive popliteal pterygium syndrome|popliteal pterygium syndrome, Bartsocas-Papas type|multiple pterygium syndrome, Aslan type|popliteal pterygium syndrome lethal type|pterygium, popliteal, lethal type|BPS|pterygium popliteal lethal type|Bartsocas-Papas syndrome|lethal popliteal pterygium syndrome|popliteal pterygium syndrome, lethal type|Bartsocas Papas syndrome											MESH:C564874|OMIM:263650|Orphanet:1234|GARD:0004436|UMLS:C1849718|ICD10:Q87.2|SCTID:722376008																		owl:Class
MONDO:0006291	biolink:NamedThing	malignant jugulotympanic paraganglioma	A jugulotympanic paraganglioma that metastasizes to other anatomic sites.	mondoexuq1wtf	malignant glomus jugulare tumor|malignant neoplasm of jugular body|malignant tumor of glomus jugulare|malignant jugulotympanic paraganglioma|malignant glomus jugulare neoplasm|malignant neoplasm of glomus jugulare|malignant neoplasm of the glomus jugulare|malignant jugular body neoplasm|malignant tumor of the glomus jugulare|jugular body cancer|cancer of jugular body											EFO:1000353|NCIT:C4623|UMLS:C0347856																		owl:Class
MONDO:0012622	biolink:NamedThing	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.	mondoexuq1wtf	LBSL|leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - high lactate|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation											Orphanet:137898|ICD10:E75.2|GARD:0012652|SCTID:703537008|OMIM:611105|MESH:C567009																		owl:Class
MONDO:0017002	biolink:NamedThing	polysomy of X chromosome		mondoexuq1wtf												Orphanet:263723																		owl:Class
MONDO:0010448	biolink:NamedThing	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	mondoexuq1wtf	MYMY4|syndromic Moyamoya disease|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|chromosome Xq28 deletion syndrome, 3.4-Kb											OMIM:300845|Orphanet:280679|UMLS:C3151857																		owl:Class
MONDO:0007018	biolink:NamedThing	vulvitis	Inflammation of the vulva. It is characterized by pruritus and painful urination.	mondoexuq1wtf	inflammation of mammalian vulva|mammalian vulva inflammation											ICD10:N76.2|SCTID:63144007|MedDRA:10047780|UMLS:C0042996|DOID:3901|MESH:D014847|EFO:1001239																		owl:Class
MONDO:0017388	biolink:NamedThing	celiac trunk compression syndrome		mondoexuq1wtf	Dunbar syndrome											UMLS:CN203119|ICD10:I77.4|Orphanet:293208																		owl:Class
MONDO:0014338	biolink:NamedThing	IL21-related infantile inflammatory bowel disease		mondoexuq1wtf	immunodeficiency, common variable, 11|immunodeficiency, common variable, type 11|IL21-related infantile IBD|IL21 deficiency|CVID11											OMIM:615767|Orphanet:477661|UMLS:C4014258																		owl:Class
MONDO:0019818	biolink:NamedThing	cleft mitral valve		mondoexuq1wtf												Orphanet:95465|ICD10:Q23.3																		owl:Class
MONDO:0004254	biolink:NamedThing	focal intraductal papillomatosis		mondoexuq1wtf	localized intraductal papillomatosis|focal intraductal papillomatosis											DOID:7512|UMLS:C1333626|NCIT:C7365																		owl:Class
MONDO:0014467	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate D	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease recessive intermediate type D|CMTRID|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive Intermediate type D|COX6A1 Charcot-Marie-Tooth disease|RI-CMT type D|Charcot-Marie-Tooth disease, recessive intermediate D|Charcot-Marie-Tooth disease caused by mutation in COX6A1											OMIM:616039|DOID:0110203|ICD10:G60.0|UMLS:C4015029|Orphanet:435998																		owl:Class
MONDO:0005965	biolink:NamedThing	spinal stenosis	Narrowing of the spinal canal.	mondoexuq1wtf	spinal stenosis of lumbar region|cervical spinal stenosis|lumbar spinal stenosis											ICD10:M48.02|ICD10:M48.0|HP:0003416|ICD9:724.09|ICD9:723.0|MESH:D013130|DOID:6725|EFO:0007490|COHD:77079|ICD10:M48.00|ICD9:724.00|ICD10:M48.06|SCTID:76107001																		owl:Class
MONDO:0013786	biolink:NamedThing	cone-rod dystrophy 16	Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.	mondoexuq1wtf	C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37|retinitis pigmentosa 64|cone-rod dystrophy type 16|retinal dystrophy with early macular involvement|CORD16|cone-rod dystrophy 16											DOID:0111022|UMLS:C3281045|OMIM:614500																		owl:Class
MONDO:0016116	biolink:NamedThing	generalized bulbospinal muscular atrophy		mondoexuq1wtf												ICD10:G12.2|Orphanet:206710																		owl:Class
MONDO:0014448	biolink:NamedThing	hyperthyroxinemia, familial dysalbuminemic	An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.	mondoexuq1wtf	familial Dysalbuminemic hyperthyroidism|FDH|euthyroid hyperthyroxinemia 1|hyperthyroxinemia, familial dysalbuminemic|FDAH|familial Dysalbuminemic hyperthyroxinemia|hyperthyroxinemia, familial Dysalbuminemic											SCTID:237547004|NCIT:C131813|MESH:D050010|OMIM:615999																		owl:Class
MONDO:0006645	biolink:NamedThing	alcoholic polyneuropathy	Any disease affecting more than one nerve.	mondoexuq1wtf	alcoholic neuropathy|alcohol-related polyneuropathy											MESH:D020269|DOID:14183|SCTID:7916009|ICD9:357.5|ICD10:G62.1|UMLS:C0085677|COHD:378421|NCIT:C26926|EFO:1000803																		owl:Class
MONDO:0014869	biolink:NamedThing	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome		mondoexuq1wtf	hydrops, lactic acidosis, and sideroblastic anemia|HLASA											UMLS:C4310761|Orphanet:528091|OMIM:617021																		owl:Class
MONDO:0012716	biolink:NamedThing	spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).	mondoexuq1wtf	Tatoo dysplasia|Sed-BDS|SED-BDS|fantasy Island syndrome|spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome|tattoo dysplasia|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech											GARD:0010629|UMLS:C2673649|Orphanet:163654|SCTID:718765003|ICD10:Q77.7|MESH:C567128|OMIM:611717																		owl:Class
MONDO:0015339	biolink:NamedThing	adrenomyeloneuropathy	An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.	mondoexuq1wtf	AMN|adrenomyeloneuropathy											GARD:0010614|UMLS:C1527231|SCTID:65389002|Orphanet:139399|ICD10:E71.3														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0006207	biolink:NamedThing	fallopian tube carcinosarcoma	A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.	mondoexuq1wtf	fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed Mullerian tumor											EFO:1000252|UMLS:C1517117|NCIT:C40124|DOID:1970																		owl:Class
MONDO:0011235	biolink:NamedThing	pelvic dysplasia-arthrogryposis of lower limbs syndrome		mondoexuq1wtf	pelvic hypoplasia with arthrogryposis of lower limbs|pelvic hypoplasia with lower limb arthrogryposis|pelvic dysplasia arthrogryposis of lower limbs|Ray-Peterson-Scott syndrome|pelvic hypoplasia with LOWER-limb arthrogryposis											OMIM:602484|Orphanet:2840|UMLS:C1865294|GARD:0004269																		owl:Class
MONDO:0005016	biolink:NamedThing	diabetic kidney disease	Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.	mondoexuq1wtf	type 2 diabetes nephropathy|type 1 diabetes nephropathy|DKD|diabetic nephropathy											ICD9:583.81|SCTID:127013003|ICD9:250.4|NCIT:C84417|EFO:0004997|EFO:0004996|MESH:D003928|EFO:0000401|ICD9:250.40																		owl:Class
MONDO:0000601	biolink:NamedThing	autoimmune disease of urogenital tract	A hypersensitivity reaction type II disease that involves the genitourinary system.	mondoexuq1wtf	genitourinary system hypersensitivity reaction type II disease|genitourinary system autoimmune disease|autoimmune disease of genitourinary system											DOID:0060049																		owl:Class
MONDO:0005387	biolink:NamedThing	primary ovarian failure	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.	mondoexuq1wtf	primary ovarian failure|female hypergonadotropic hypogonadism|hypergonadotrophic ovarian failure|primary female hypogonadism|hypergonadotropic hypogonadism|primary ovarian insufficiency|premature ovarian failure|premature ovarian insufficiency|premature menopause|hypergonadotropic hypogonadism (female)											NCIT:C113352|ICD9:253.4|MESH:D016649|ICD10:E28.3|SCTID:65846009|EFO:0004266|DOID:5426|SCTID:370999003|ICD9:256.39|UMLS:C0085215																		owl:Class
MONDO:0009115	biolink:NamedThing	congenital lactase deficiency	Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.	mondoexuq1wtf	disaccharide intolerance 2|lactase deficiency, congenital|Alactasia, congenital											ICD9:271.3|Orphanet:53690|OMIM:223000|GARD:0012311|SCTID:5388008|DOID:0111646|MESH:C562600|ICD10:E73.0														https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency				owl:Class
MONDO:0014856	biolink:NamedThing	combined oxidative phosphorylation defect type 30	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.	mondoexuq1wtf	TRMT10C combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|COXPD30|combined oxidative phosphorylation deficiency 30|combined oxidative phosphorylation deficiency type 30											OMIM:616974|EFO:0009038|Orphanet:478042|DOID:0111471|UMLS:C4310773																		owl:Class
MONDO:0015091	biolink:NamedThing	autosomal dominant spastic paraplegia type 9	Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	mondoexuq1wtf	cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|spastic paraplegia 9|autosomal dominant spastic paraparesis|bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|ALDH18A1 autosomal dominant complex spastic paraplegia|SPG9|cataracts, motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome											Orphanet:100990|GARD:0009583|ICD10:G11.4																		owl:Class
MONDO:0004466	biolink:NamedThing	neuronitis		mondoexuq1wtf	neuroinflammation					Editor note: check this						DOID:8117|NCIT:C34847|UMLS:C0027881																		owl:Class
MONDO:0006607	biolink:NamedThing	sebaceous gland disease	A disease involving the sebaceous gland.	mondoexuq1wtf	disease of sebaceous gland|sebaceous gland disease|disease or disorder of sebaceous gland|disease of sebaceous glands|sebaceous gland disease or disorder|disorder of sebaceous gland											MESH:D012625|ICD10:L70.8|SCTID:3441005|ICD9:706.1|DOID:9098|UMLS:C0036502|EFO:1000763																		owl:Class
MONDO:0013134	biolink:NamedThing	glaucoma 1, open angle, O	Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.	mondoexuq1wtf	glaucoma 1, open angle, O|NTF4 open-angle glaucoma|GLC1O|open-angle glaucoma caused by mutation in NTF4|glaucoma 1, open angle, type O											UMLS:C2751294|MESH:C567753|OMIM:613100																		owl:Class
MONDO:0060502	biolink:NamedThing	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		mondoexuq1wtf	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|NDMSBA											UMLS:C4479631|OMIM:617527|Orphanet:521426																		owl:Class
MONDO:0021838	biolink:NamedThing	Al Gazali Khidr Prem Chandran syndrome	A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature.	mondoexuq1wtf	cherubism, optic atrophy and short stature											UMLS:C2930951|GARD:0000586|MESH:C535616														https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome				owl:Class
MONDO:0019624	biolink:NamedThing	acquired angioedema	Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.	mondoexuq1wtf	angioedema, acquired|acquired non histamine-induced angioedema|acquired angioneurotic edema|AAE|acquired bradykinine-induced angioedema|acquired C1 inhibitor deficiency|acquired angioedema											GARD:0008605|UMLS:C2931758|ICD10:T78.3|Orphanet:91385|MESH:C538173														https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema				owl:Class
MONDO:0020527	biolink:NamedThing	ectopic Cushing syndrome	Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.	mondoexuq1wtf	ectopic ACTH secreting tumor|ectopic Cushing syndrome|paraneoplastic Cushing syndrome|occult ectopic ACTH secretion|Cushing syndrome due to ectopic ACTH secretion|adrenocorticotropic hormone secretion syndrome											Orphanet:99889|DOID:0060890|UMLS:CN207427|ICD10:E24.3																		owl:Class
MONDO:0020528	biolink:NamedThing	ACTH-dependent Cushing syndrome	Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).	mondoexuq1wtf	adrenocorticotropic hormone-dependent Cushing syndrome|overproduction of ACTH|adrenocorticotropic hormone, inappropriate secretion|pituitary-dependent Cushing's disease|pituitary Cushing diseases|pituitary-dependent Cushing disease|pituitary Cushing disease|corticotropin-dependent Cushing syndrome|ACTH-dependent CS|ACTH hypersecretion, pituitary|pituitary Cushing syndrome											ICD10:E24.0|DOID:3946|SCTID:237734007|SCTID:190502001|Orphanet:99892|MESH:D047748|MedDRA:10035109|UMLS:C0342442|EFO:1001110																		owl:Class
MONDO:0007904	biolink:NamedThing	median nodule of the upper lip	Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.	mondoexuq1wtf	LIP, MEDIAN NODULE of upper											GARD:0003440|SCTID:722034006|UMLS:C1835396|ICD10:Q18.8|Orphanet:2699|OMIM:151630														https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip				owl:Class
MONDO:0007753	biolink:NamedThing	Frey syndrome	An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)	mondoexuq1wtf	HYPRG|hyperhidrosis, gustatory|gustatory hyperhidrosis|Frey's syndrome|gustatory sweating|Baillarger syndrome|hyperhidrosis gustatory|auriculotemporal nerve syndrome|Frey syndrome											OMIM:144100|DOID:11599|MESH:D013547|GARD:0006467|EFO:1000940|SCTID:238758008																		owl:Class
MONDO:0009798	biolink:NamedThing	intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	mondoexuq1wtf	PRIMS|primrose syndrome|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes											ICD10:Q87.8|OMIM:259050|Orphanet:3042|UMLS:C0796121|SCTID:726709001|GARD:0004488|MESH:C536420																		owl:Class
MONDO:0004071	biolink:NamedThing	childhood cerebral astrocytoma	An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.	mondoexuq1wtf	cerebral astrocytoma|cerebral astrocytoma, childhood|childhood astrocytic tumor of telencephalon|pediatric astrocytoma of the cerebrum|pediatric cerebral astrocytoma|childhood astrocytoma of the cerebrum|telencephalon juvenile astrocytoma|childhood astrocytoma of cerebrum|telencephalon childhood astrocytic tumor|pediatric astrocytoma of cerebrum											NCIT:C4347|DOID:7007|GARD:0009302|UMLS:C0338070														https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood				owl:Class
MONDO:0021633	biolink:NamedThing	cerebral astrocytoma	An astrocytoma that arises from the cerebral hemispheres.	mondoexuq1wtf	cerebral hemisphere astrocytoma (excluding glioblastoma)|cerebral astrocytoma|cerebral hemispheric astrocytoma|astrocytoma of cerebral hemispheres|astrocytoma of the cerebrum|astrocytoma of cerebrum|astrocytoma (excluding glioblastoma) of cerebral hemisphere|astrocytoma of the cerebral hemispheres											NCIT:C4951|SCTID:99131000119108																		owl:Class
MONDO:0033621	biolink:NamedThing	spinal muscular atrophy, infantile, James type		mondoexuq1wtf	SMAJI											OMIM:619042																		owl:Class
MONDO:0044800	biolink:NamedThing	desmoplastic spitz nevus	A Spitz nevus associated with fibrous stroma formation.	mondoexuq1wtf	Desmoplastic spitz Nevus											NCIT:C82864|UMLS:C1275419|SCTID:400022009																		owl:Class
MONDO:0003752	biolink:NamedThing	frontal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.	mondoexuq1wtf	Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus|frontal sinus Schneiderian papilloma											UMLS:C1333645|DOID:6054|NCIT:C6837																		owl:Class
MONDO:0012625	biolink:NamedThing	retinitis pigmentosa 37	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.	mondoexuq1wtf	RP37|NR2E3 retinitis pigmentosa|retinitis pigmentosa type 37|retinitis pigmentosa 37|retinitis pigmentosa caused by mutation in NR2E3											DOID:0110399|ICD10:H35.5|UMLS:C1970163|MESH:C567005|OMIM:611131																		owl:Class
MONDO:0013267	biolink:NamedThing	distal 16p11.2 microdeletion syndrome	Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	mondoexuq1wtf	distal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 220kb|obesity, susceptibility to|distal del(16)(p11.2)|distal 16p11.2 microdeletion syndrome|chromosome 16p11.2 deletion syndrome, 220-KB|chromosome 16p11.2 deletion syndrome, type 220kb|body Mass index quantitative trait locus 16											UMLS:C4518824|Orphanet:261222|UMLS:C3150701|ICD10:Q93.5|SCTID:733521003|DOID:0060398|OMIM:613444																		owl:Class
MONDO:0016994	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.	mondoexuq1wtf	Taybi-Linder syndrome|MOPD 1|primordial microcephalic dwarfism, Crachami type|Brachymelic primordial dwarfism|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|microcephalic osteodysplastic primordial dwarfism types 1 and 3|osteodysplastic primordial dwarfism type I|microcephalic osteodysplastic primordial dwarfism type 1|MOPD types I and III|low-birth-weight dwarfism with skeletal dysplasia|Cephaloskeletal dysplasia											GARD:0005120|SCTID:725461009|ICD10:Q87.1|UMLS:CN202308|Orphanet:2636														https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1				owl:Class
MONDO:0001920	biolink:NamedThing	chronic purulent otitis media	Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.	mondoexuq1wtf	CSOM|chronic suppurative otitis Media|suppurative otitis media, chronic|chronic suppurative otitis media											SCTID:38394007|ICD10:H66.3|DOID:14247|UMLS:C0271454|NCIT:C128386|COHD:377886|ICD9:382.3																		owl:Class
MONDO:0044720	biolink:NamedThing	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome		mondoexuq1wtf	CABV syndrome|cerebellar ataxia with bilateral vestibulopathy syndrome|CANVAS											Orphanet:504476																		owl:Class
MONDO:0014249	biolink:NamedThing	multiple fibroadenoma of the breast	Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.	mondoexuq1wtf	mammary polyadenomatosis|MFAB|multiple fibroadenomas of the breast											ICD10:D24|UMLS:C3809918|OMIM:615554|Orphanet:50920																		owl:Class
MONDO:0007743	biolink:NamedThing	attention deficit-hyperactivity disorder	A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.	mondoexuq1wtf	attention deficit/hyperactivity disorder|hyperactivity of childhood|ADHD|attention deficit hyperactivity disorder|attention deficit-hyperactivity disorder											NCIT:C97160|OMIM:143465																		owl:Class
MONDO:0009331	biolink:NamedThing	isolated hemihyperplasia	Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.	mondoexuq1wtf	hemi 3 syndrome|IH|hemihyperplasia, isolated|Hemicorporal hypertrophy|hemi-3 syndrome|hemihypertrophy, isolated|isolated hemihypertrophy|hemihyperplasia											OMIM:235000|MedDRA:10019463|MESH:C565524|UMLS:C1856184|GARD:0002630|ICD10:Q87.3|Orphanet:2128																		owl:Class
MONDO:0009959	biolink:NamedThing	peroxisome biogenesis disorder type 3B	A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.	mondoexuq1wtf	infantile phytanic acid storage disease|PBD3B|peroxisome biogenesis disorder 3B|peroxisome biogenesis disorder type 3B|infantile Refsum disease											OMIM:266510|ICD10:G60.1|DOID:0050444														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0006804	biolink:NamedThing	inflammatory breast carcinoma	An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.	mondoexuq1wtf	IBC|inflammatory breast cancer|inflammatory breast carcinoma|breast cancer, inflammatory|mastitis Carcinomatosa|mastitis carcinomatosa|inflammatory carcinoma of the breast|inflammatory carcinoma of breast											EFO:1000984|SCTID:254840009|MESH:D058922|ONCOTREE:IBC|GARD:0006784|UMLS:C0278601|NCIT:C4001|ICDO:8530/3|DOID:6263|MedDRA:10006205																		owl:Class
MONDO:0022685	biolink:NamedThing	cerebellar agenesis		mondoexuq1wtf												GARD:0001187														https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis				owl:Class
MONDO:0006572	biolink:NamedThing	lichen planus	A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.	mondoexuq1wtf	lichen, ruber planus|ruber planus|lichen ruber planus											NCIT:C3189|ICD10:L43.9|EFO:1000726|COHD:132703|DOID:9201|UMLS:C0023646|MESH:D008010|ICD9:697.0|ICD10:L43|SCTID:4776004																		owl:Class
MONDO:0007955	biolink:NamedThing	Meckel diverticulum	A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.	mondoexuq1wtf	Meckel's diverticulum|Meckel diverticulum|persistent vitelline duct											ICD10:Q43.0|DOID:9487|MedDRA:10027055|SCTID:37373007|MESH:D008467|EFO:1001036|OMIM:155140|COHD:441394|ICD9:751.0|NCIT:C12264																		owl:Class
MONDO:0004177	biolink:NamedThing	benign urethral neoplasm	Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.	mondoexuq1wtf	benign urethra tumor|benign neoplasm of urethra|benign tumor of urethra|benign tumor of the urethra|benign neoplasm of the urethra|neoplasm. urethra|urethra benign neoplasm|benign urethra neoplasm|benign urethral neoplasm|urethral benign neoplasm|benign urethral tumor											SCTID:92466006|NCIT:C3619|ICD9:223.81|COHD:196377|DOID:730																		owl:Class
MONDO:0021239	biolink:NamedThing	urethra neoplasm	A neoplasm (disease) that involves the urethra.	mondoexuq1wtf	urethra tumor|neoplasms. urethra|urethral tumor|urethra neoplasms|urethra tumors|urethra neoplasm (disease)|tumor of the urethra|neoplasm of the urethra|urethral neoplasm|neoplasm of urethra|urethral tumors|urethral neoplasms|tumors. urethra|tumor of urethra											EFO:0003846|NCIT:C3428																		owl:Class
MONDO:0014324	biolink:NamedThing	pachyonychia congenita 3	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.	mondoexuq1wtf	pachyonychia congenita type 3|pachyonychia congenita caused by mutation in KRT6A|pachyonychia congenita 3|PC3|KRT6A pachyonychia congenita											OMIM:615726|UMLS:C3714948																		owl:Class
MONDO:0017277	biolink:NamedThing	partial deletion of chromosome 12		mondoexuq1wtf	partial monosomy of chromosome 12|partial deletion of chromosome type 12											Orphanet:282124|ICD10:Q93.5																		owl:Class
MONDO:0024494	biolink:NamedThing	tumor grade 4, general grading system	A morphologic qualifier indicating that a cancerous lesion is undifferentiated.	mondoexuq1wtf	G4|undifferentiated|grade 4|grade IV|high grade											NCIT:C28082																		owl:Class
MONDO:0005871	biolink:NamedThing	Nematoda infectious disease	Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.	mondoexuq1wtf	Nematode Infections|Nematodiasis|Infection, Nematode|nematodiasis|Nematode Infection|disease due to nematoda|Nematoda caused disease or disorder|nematode infection|Nematode infection|Nematoda disease or disorder|Disease due to Nematoda|Infections, Nematode										MONDO:0021556	UMLS:C0027583|SCTID:84706005|EFO:0007391|MESH:D009349																		owl:Class
MONDO:0018429	biolink:NamedThing	14q24.1q24.3 microdeletion syndrome		mondoexuq1wtf	Del(14)(q24.1q24.3)|monosomy 14q24.1q24.3											ICD10:Q93.5|UMLS:CN226142|Orphanet:401935																		owl:Class
MONDO:0021025	biolink:NamedThing	cirrhosis, familial, with antigenemia		mondoexuq1wtf	cirrhosis, familial											OMIM:118900																		owl:Class
MONDO:0011763	biolink:NamedThing	T-box 24		mondoexuq1wtf	Tbx24|T-box 24|T-box type 24											OMIM:607044																		owl:Class
MONDO:0032526	biolink:NamedThing	spinocerebellar ataxia 48		mondoexuq1wtf	SPINOCEREBELLAR ATAXIA 48|SCA48											DOID:0111746|OMIM:618093																		owl:Class
MONDO:0007709	biolink:NamedThing	hematuria, benign familial		mondoexuq1wtf	hematuria, benign familial|thin membrane nephropathy|BFH|thin-basement-membrane nephropathy											OMIM:141200|DOID:0111365|MESH:C562476																		owl:Class
MONDO:0018815	biolink:NamedThing	aneurysmal bone cyst	A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.	mondoexuq1wtf	aneurysmal bone cysts|aneurysmal cyst of the bone|ABC|aneurysmal bone cyst|aneurysmal cyst of bone|aneurysmal bone cyst (disease)		aneurysmal bone cyst (disease)									NCIT:C3516|Orphanet:480553|OMIM:606179|GARD:0008646|SCTID:203468000|HP:0012063|ICD9:733.22|COHD:74737														https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts				owl:Class
MONDO:0004076	biolink:NamedThing	tendon sheath lipoma	A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.	mondoexuq1wtf	lipoma of tendon sheath|tendon sheath lipoma|lipoma of the tendon sheath											NCIT:C6499|DOID:7016|UMLS:C1336703																		owl:Class
MONDO:0023696	biolink:NamedThing	Marinesco-Sjogren-like syndrome	A disease with similar features to Marinesco-Sjogren syndrome.	mondoexuq1wtf	juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy|Marinesco-Sjogren-like syndrome (MSLS)											MESH:C535913|GARD:0008745|UMLS:C0796036														https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls				owl:Class
MONDO:0001415	biolink:NamedThing	atrophy of testis	Loss of testicular volume.	mondoexuq1wtf	testicular atrophy											UMLS:C0156312|DOID:11994|COHD:438477|NCIT:C123259|SCTID:17585008|ICD9:608.3|ICD10:N50.0																		owl:Class
MONDO:0014300	biolink:NamedThing	proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	mondoexuq1wtf	MPXPS|myopathy with extrapyramidal signs											DOID:0111335|ICD10:G71.3|GARD:0012978|OMIM:615673|UMLS:C3810285|Orphanet:401768																		owl:Class
MONDO:0024454	biolink:NamedThing	sacral nerve plexus disease	A disease that involves the sacral nerve plexus.	mondoexuq1wtf	sacral plexopathy|disease of sacral nerve plexus|disorder of sacral nerve plexus|sacral nerve plexus disease or disorder|sacral nerve plexus disorder|disease or disorder of sacral nerve plexus											UMLS:C2931445|GARD:0007597|MESH:C537224																		owl:Class
MONDO:0013440	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2P	Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	mondoexuq1wtf	DAG1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|MDDGC9|limb-girdle muscular dystrophy type 2P|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|LGMD2P|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|muscular dystrophy, limb-girdle, type 2P|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1											OMIM:613818|ICD10:G71.0|Orphanet:280333|UMLS:C3151184|DOID:0110293|GARD:0012541																		owl:Class
MONDO:0008446	biolink:NamedThing	sperm protamine P4		mondoexuq1wtf	PRM4|sperm protamine P4											OMIM:182882																		owl:Class
MONDO:0022761	biolink:NamedThing	chromosome 3 duplication syndrome		mondoexuq1wtf												UMLS:C2931333|MESH:C536803																		owl:Class
MONDO:0007573	biolink:NamedThing	acute erythroleukemia, familial	An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	leukemia, acute myelogenous, M6|ERYTHROLEUKEMIA, familial|hereditary acute erythroid leukemia|Di Guglielmo disease, familial											EFO:0000218|ICD9:207.0|MESH:C565039|OMIM:133180																		owl:Class
MONDO:0017858	biolink:NamedThing	acute erythroid leukemia	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)	mondoexuq1wtf	leukemia, erythroid, malignant|FAB M6|acute myeloid leukemia FAB-M6|AML M6|acute erythroid leukemia|acute erythroleukemia|acute erythroblastic leukemia|Di Guglielmo's syndrome|AML-M6|Erythroleukemia|acute erythroleukemia M6a subtype|acute myeloid leukemia M6|M6 acute myeloid leukemia|acute erythroleukemia M6b subtype|Di Guglielmo syndrome|erythroblastic leukemia|AEL											MESH:D004915|SCTID:93451002|NCIT:C8923|ICD10:C94.0|ICD9:205.80|UMLS:C0023440|ICDO:9840/3|GARD:0009750|GARD:0009620|Orphanet:318|ICD9:207.00														https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome|https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia				owl:Class
MONDO:0060491	biolink:NamedThing	neurodevelopmental disorder with involuntary movements		mondoexuq1wtf	neurodevelopmental disorder with involuntary movements|NEDIM					Editor note: todo - check orphanet xref						OMIM:617493																		owl:Class
MONDO:0015360	biolink:NamedThing	autosomal dominant hereditary axonal motor and sensory neuropathy		mondoexuq1wtf												UMLS:CN228927|ICD10:G60.0|Orphanet:140456																		owl:Class
MONDO:0010407	biolink:NamedThing	intellectual disability, X-linked syndromic, Turner type	X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.	mondoexuq1wtf	Brooks-Wisniewski-Brown Syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|X-linked intellectual disability, Brooks type|mental retardation, X-linked, syndromic, Turner type|X-linked mental retardation Brooks type|Brooks Wisniewski Brown syndrome|MRXST|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Brooks-Wisniewski-Brown syndrome|syndromic X-linked intellectual disability Turner type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|Juberg-Marsidi Syndrome|X-linked intellectual disability, Turner type|mental retardation and macrocephaly syndrome											DOID:0060829|OMIM:300706|Orphanet:85328|SCTID:725912001|GARD:0005610|GARD:0005604|MESH:C563154|Orphanet:3056|OMIM:300612|MESH:C567476|DOID:0060811|ICD10:Q87.8|UMLS:C2678046|OMIM:309590|UMLS:C0796272																		owl:Class
MONDO:0018533	biolink:NamedThing	undifferentiated carcinoma of liver and intrahepatic biliary tract	Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.	mondoexuq1wtf	undifferentiated carcinoma of liver and IBT											ICD10:C22.1|ICD10:C22.7|ICD10:C22.0|UMLS:CN242153|Orphanet:424970																		owl:Class
MONDO:0002460	biolink:NamedThing	lacrimal system cancer	A cancer that involves the lacrimal apparatus.	mondoexuq1wtf	tumor of lacrimal system|lacrimal apparatus cancer|lacrimal system tumor|cancer of lacrimal apparatus|tumor of the lacrimal system|lacrimal system neoplasms|neoplasm of lacrimal system|malignant lacrimal apparatus neoplasm|malignant neoplasm of lacrimal apparatus|lacrimal system neoplasm|neoplasm of the lacrimal system											UMLS:C1334361|DOID:292|SCTID:416510003|NCIT:C5102																		owl:Class
MONDO:0030913	biolink:NamedThing	intellectual disability, autosomal dominant 48		mondoexuq1wtf	MRD48|microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|autosomal dominant mental retardation 48|autosomal dominant intellectual disability 48|intellectual disability, autosomal dominant 48|mental retardation, autosomal dominant 48											OMIM:617751|EFO:0009156|UMLS:CN580791|DOID:0080235|Orphanet:500159																		owl:Class
MONDO:0012658	biolink:NamedThing	brachydactyly type B2	Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.	mondoexuq1wtf	brachydactyly, type B2|BDB2											DOID:0110975|ICD10:Q73.8|Orphanet:140908|UMLS:C1969652|OMIM:611377																		owl:Class
MONDO:0006893	biolink:NamedThing	Pasteurella hemorrhagic septicemia	Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.	mondoexuq1wtf	Septicaemia, haemorrhagic|hemorrhagic bacteremia|haemorrhagic septicemia|bacteremia, hemorrhagic|hemorrhagic Septicaemia|bacteremia, haemorrhagic|septicemia, hemorrhagic|haemorrhagic bacteremia|haemorrhagic Septicaemia|Septicaemia, hemorrhagic|septicemia, haemorrhagic											MESH:D006483|EFO:1001091|SCTID:198462004																		owl:Class
MONDO:0040998	biolink:NamedThing	Pasteurella multocida infectious disease		mondoexuq1wtf	infection by Pasteurella multocida|infection caused by Pasteurella multocida											GARD:0009774|SCTID:197718007|UMLS:C1260911																		owl:Class
MONDO:0001897	biolink:NamedThing	bilateral hyperactive labyrinth		mondoexuq1wtf	hyperactive bilateral labyrinthine dysfunction|hyperactive labyrinth, bilateral											ICD9:386.52|DOID:14165|SCTID:194373002|UMLS:C0155516																		owl:Class
MONDO:0019383	biolink:NamedThing	acute disseminated encephalomyelitis	Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.	mondoexuq1wtf	ADEM|acute disseminated encephalitis|acute disseminated encephalomyelitis|ADE											ICD10:G04.0|MESH:D004673|ICD9:136.9|EFO:0007130|SCTID:83942000|DOID:639|UMLS:C0014059|GARD:0008639|NCIT:C34578|Orphanet:83597|COHD:374021														https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis				owl:Class
MONDO:0030603	biolink:NamedThing	Klebsiella infectious disease	Infections with bacteria of the genus KLEBSIELLA.	mondoexuq1wtf	Klebsiella caused disease or disorder|Klebsiella infection|infections, Klebsiella|infection, Klebsiella|Klebsiella disease or disorder											EFO:1001353|GARD:0010085|MESH:D007710|SCTID:721756002																		owl:Class
MONDO:0006840	biolink:NamedThing	lymphangiectasis	Dilatation of the lymphatic vessels.	mondoexuq1wtf	lymphangiectasia											MESH:D008200|UMLS:C0024214|EFO:1001025|NCIT:C97087|GARD:0006933														https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis				owl:Class
MONDO:0008717	biolink:NamedThing	acromesomelic dysplasia, Hunter-Thompson type	Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.	mondoexuq1wtf	acromesomelic dwarfism|acromesomelic dysplasia, Hunter-Thompson type|acromesomelic dysplasia Hunter Thompson type|AMDH											DOID:0080051|OMIM:201250|GARD:0000506|ICD10:Q78.8|Orphanet:968																		owl:Class
MONDO:0003405	biolink:NamedThing	adult central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in adults.	mondoexuq1wtf	adult central nervous system germ cell tumor|central nervous system adult germ cell tumor|adult CNS germ cell tumor|germ cell neoplasm of the adult central nervous system|germ cell tumor of adult CNS|germ cell tumor of adult central nervous system|germ cell neoplasm of adult central nervous system|germ cell neoplasm of adult CNS|central nervous system germ cell tumor|germ cell tumor of the adult central nervous system|germ cell neoplasm of the adult CNS|adult CNS germ cell neoplasm|germ cell tumor of the adult CNS|central nervous system germ cell tumor of adults|adult central nervous system germ cell neoplasm											NCIT:C6285|UMLS:C0280796|DOID:5349																		owl:Class
MONDO:0007035	biolink:NamedThing	acanthosis nigricans	A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.	mondoexuq1wtf	acanthosis nigricans|acanthosis nigricans (disease)|an - acanthosis nigricans|keratosis nigricans		acanthosis nigricans (disease)									UMLS:C0000889|COHD:4299544|HP:0000956|NCIT:C26687|EFO:1000660|DOID:3138|MESH:D000052|ICD10:L83|Wikipedia:Acanthosis_nigricans|SCTID:402599005																		owl:Class
MONDO:0001786	biolink:NamedThing	uterine inflammatory disease		mondoexuq1wtf	inflammatory disease of the uterus											COHD:196162|DOID:13736|ICD10:N71.9|SCTID:28783002|UMLS:C0269047|ICD9:615.9																		owl:Class
MONDO:0013348	biolink:NamedThing	cone-rod dystrophy 15	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.	mondoexuq1wtf	cone-rod dystrophy type 15|retinitis pigmentosa 65|cone-rod dystrophy caused by mutation in CDHR1|CDHR1 cone-rod dystrophy|cone-rod dystrophy 15|CORD15											DOID:0111021|UMLS:C3150912|OMIM:613660																		owl:Class
MONDO:0011540	biolink:NamedThing	spinocerebellar ataxia type 14	Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.	mondoexuq1wtf	spinocerebellar ataxia type 14|spinocerebellar ataxia 14|SCA14											SCTID:719210007|Orphanet:98763|DOID:0050964|MESH:C537196|ICD10:G11.2|UMLS:C4304883|OMIM:605361|GARD:0009867|UMLS:C1854369																		owl:Class
MONDO:0019198	biolink:NamedThing	sympathetic ophthalmia	Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.	mondoexuq1wtf	sympathetic uveitis|sympathetic ophthalmia											UMLS:C0029077|Orphanet:79098|ICD9:360.11|SCTID:75315001|MedDRA:10042742|ICD10:H44.1|EFO:1001205|MESH:D009879|DOID:12029|ICD10:H44.13																		owl:Class
MONDO:0009205	biolink:NamedThing	faciocardiorenal syndrome	Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	mondoexuq1wtf	Eastman-Bixler syndrome|Eastman Bixler syndrome|faciocardiorenal syndrome											ICD10:Q87.8|Orphanet:1973|GARD:0002230|SCTID:723333000|OMIM:227280|UMLS:C0795936|MESH:C536388														https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome				owl:Class
MONDO:0007445	biolink:NamedThing	dermatopathia pigmentosa reticularis		mondoexuq1wtf	DPR|dermatopathia pigmentosa reticularis											SCTID:239088003|Orphanet:86920|OMIM:125595|MESH:C535374|ICD10:Q82.4|DOID:0111342|GARD:0008550														https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis				owl:Class
MONDO:0003706	biolink:NamedThing	adult brainstem astrocytoma		mondoexuq1wtf	adult brainstem astrocytoma|adult brain stem astrocytoma											DOID:5922|UMLS:C1332191|NCIT:C6954																		owl:Class
MONDO:0003153	biolink:NamedThing	adult brainstem glioma	A brain stem glioma that occurs in an adult.	mondoexuq1wtf	adult brainstem neuroglial neoplasm|adult brainstem neuroglial tumor|adult brainstem glioma|glioma of adult brain stem|glioma of the adult brain stem|adult brain stem glioma|brain stem glioma|brain stem glioma of adults											DOID:4813|NCIT:C9091|UMLS:C0278873																		owl:Class
MONDO:0044816	biolink:NamedThing	familial idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary idiopathic torsion dystonia|familial Idiopathic dystonia|idiopathic familial dystonia|genetic torsion dystonia											NCIT:C35437|SCTID:230318005																		owl:Class
MONDO:0044811	biolink:NamedThing	idiopathic torsion dystonia	Torsion dystonia for which no underlying cause has been identified.	mondoexuq1wtf	dystonia deformans progressiva|dystonia musculorum deformans|Ziehen-oppenheim disease|idiopathic torsion dystonia|Idiopathic torsion dystonia|Schwalbe disease|primary torsion dystonia											NCIT:C34564|SCTID:22451001|ICD9:333.6																		owl:Class
MONDO:0021136	biolink:NamedThing	rare	A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet.	mondoexuq1wtf	rare (European definition)																													owl:Class
MONDO:0032807	biolink:NamedThing	neurodevelopmental disorder with visual defects and brain anomalies		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES|NEDVIBA											OMIM:618547																		owl:Class
MONDO:0044037	biolink:NamedThing	livedo reticularis	A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.	mondoexuq1wtf	livedo reticularis|livedo racemosa											MESH:D054068|SCTID:238772004|UMLS:C0085642																		owl:Class
MONDO:0014162	biolink:NamedThing	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.	mondoexuq1wtf	MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency type 16|combined oxidative phosphorylation deficiency 16|COXPD16											UMLS:C3809339|DOID:0111469|GARD:0012892|ICD10:I42.2|OMIM:615395|Orphanet:352563																		owl:Class
MONDO:0008223	biolink:NamedThing	hypokalemic periodic paralysis	Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.	mondoexuq1wtf	periodic hypokalemic paralysis|HypoPP|periodic paralysis I|familial periodic paralysis (& [hypokalaemic])|hypokalemic periodic paralysis|Westphall disease|familial hypokalemic periodic paralysis|hypokalemic familial periodic paralysis|HOKPP|HKPP											UMLS:C0238358|DOID:14452|Orphanet:681|NCIT:C84775|ICD10:G72.3|GARD:0006729|SCTID:82732003|MESH:D020514														https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis				owl:Class
MONDO:0021068	biolink:NamedThing	ovarian neoplasm	A benign, borderline, or malignant neoplasm involving the ovary.	mondoexuq1wtf	ovary neoplasm (disease)|ovary tumor|ovarian tumors|ovarian tumor|tumor of ovary|tumor of the ovary|ovary neoplasm|ovarian neoplasm|neoplasm of ovary|neoplasm of the ovary											NCIT:C4984|ICD9:239.5|SCTID:123843001|UMLS:CN236629																		owl:Class
MONDO:0011190	biolink:NamedThing	nephronophthisis 2	Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.	mondoexuq1wtf	Nph2|nephronophthisis (disease) caused by mutation in INVS|INVS nephronophthisis (disease)|NPHP2|nephronophthisis 2|infantile nephronophthisis 2|nephronophthisis type 2|NPH2											DOID:0111113|MESH:C566582|OMIM:602088|UMLS:C1865872|Orphanet:93591																		owl:Class
MONDO:0008876	biolink:NamedThing	Bloom syndrome	Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.	mondoexuq1wtf	microcephaly, growth restriction, and increased sister chromatid exchange 1|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|congenital telangiectatic erythema|BLM|BSyn|BS|congenital telangiectatic erythema syndrome|MGRISCE1|BLS|Bloom-Torre-Machacek syndrome|Bloom syndrome											OMIM:210900|DOID:2717|NCIT:C2903|Orphanet:125|SCTID:4434006|ICD9:757.39|ICD10:Q82.2|MESH:D001816|GARD:0000915|UMLS:C0005859														https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome				owl:Class
MONDO:0004255	biolink:NamedThing	Wolffian adnexal tumor	A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.	mondoexuq1wtf	WAT|FATWO|Wolffian adenoma|female adnexal tumor of probable Wolffian origin|Wolffian adnexal tumor|Wolffian adnexal neoplasm|Wolffian tumor											NCIT:C40141|UMLS:C1520159|MESH:C536741|DOID:7514|GARD:0008680																		owl:Class
MONDO:0005880	biolink:NamedThing	oesophagostomiasis	Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.	mondoexuq1wtf	Oesophagostomum infectious disease|infection by Oesophagostomum|Oesophagostomum disease or disorder|Oesophagostomum caused disease or disorder											SCTID:22500005|EFO:0007400|ICD9:127.7|MESH:D009814|UMLS:C0028887|DOID:3983																		owl:Class
MONDO:0033644	biolink:NamedThing	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1		mondoexuq1wtf	MRCS1											OMIM:619082																		owl:Class
MONDO:0010037	biolink:NamedThing	sodium-potassium-ATPase activity of red cell		mondoexuq1wtf	sodium-potassium-ATPase activity of red cell|sodium pump sites, number of											OMIM:270425																		owl:Class
MONDO:0001474	biolink:NamedThing	chronic salpingo-oophoritis	Chronic form of salpingo-oophoritis.	mondoexuq1wtf	chronic salpingitis/oophoritis|chronic salpingo-oophoritis|salpingo-oophoritis, chronic|chronic salpingitis and oophoritis											UMLS:C0156328|ICD10:N70.13|ICD9:614.1|DOID:12265|SCTID:198142001|ICD10:N70.1|COHD:198201																		owl:Class
MONDO:0016780	biolink:NamedThing	paternal 14q32.2 microdeletion syndrome		mondoexuq1wtf	paternal monosomy 14q32.2|paternal del(14)(q32.2)											ICD10:Q93.5|Orphanet:254525|UMLS:CN202036																		owl:Class
MONDO:0017292	biolink:NamedThing	well-differentiated fetal adenocarcinoma of the lung	Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.	mondoexuq1wtf	pulmonary endodermal tumor resembling fetal lung|fetal lung adenocarcinoma|fetal adenocarcinoma|WDFA|well-differentiated fetal lung adenocarcinoma|pulmonary adenocarcinoma of fetal type											ICD10:C34.2|ICD10:C34.1|Orphanet:284395|ICD10:C34.8|NCIT:C45509|UMLS:CN202865|ICDO:8333/3|UMLS:C1708045|ICD10:C34.3|UMLS:C1266047																		owl:Class
MONDO:0013193	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 2	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.	mondoexuq1wtf	thyrotoxic periodic paralysis caused by mutation in KCNJ18|thyrotoxic periodic paralysis, susceptibility to, 2|TTPP2|KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, type 2											OMIM:613239																		owl:Class
MONDO:0014653	biolink:NamedThing	retinitis pigmentosa 72	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.	mondoexuq1wtf	retinitis pigmentosa 72|retinitis pigmentosa type 72|ZNF408 retinitis pigmentosa|retinitis pigmentosa caused by mutation in ZNF408|RP72											ICD10:H35.5|DOID:0110395|OMIM:616469|UMLS:C4225315																		owl:Class
MONDO:0054733	biolink:NamedThing	spermatogenic failure 29		mondoexuq1wtf	SPGF29|spermatogenic failure 29											OMIM:618091																		owl:Class
MONDO:0005585	biolink:NamedThing	chemotherapy-induced hypertension	A form of hypertension that occurs as a direct result of chemotherapy treatment	mondoexuq1wtf												EFO:0005942																		owl:Class
MONDO:0007995	biolink:NamedThing	microphthalmia, isolated, with cataract 1		mondoexuq1wtf	cataract, congenital, with microphthalmia|microphthalmia with cataract 1|MCOPCT1|microphthalmia, isolated, with cataract 1|congenital cataract with microphthalmia											GARD:0009610|UMLS:C1834919|OMIM:156850|MESH:C563582																		owl:Class
MONDO:0000169	biolink:NamedThing	microphthalmia, isolated, with cataract		mondoexuq1wtf												OMIMPS:156850|DC:0000657																		owl:Class
MONDO:0009785	biolink:NamedThing	opsismodysplasia	Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.	mondoexuq1wtf	OPSISMODYSPLASIA|opsismodysplasia|OPSMD											OMIM:258480|MESH:C537122|Orphanet:2746|SCTID:254068007|GARD:0004098|ICD10:Q78.8|UMLS:C0432219														https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia				owl:Class
MONDO:0015386	biolink:NamedThing	epignathus	Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	mondoexuq1wtf	Epignathus|epignathus (disease)|oropharyngeal teratoma		epignathus (disease)									Orphanet:141077|SCTID:31248004|UMLS:C0266725|ICD10:D37.0|HP:0030767																		owl:Class
MONDO:0060596	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		mondoexuq1wtf	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies|NEDDFL					Editor note: Check ORDO class, may refer to more generic class						UMLS:C4540327|OMIM:617755|Orphanet:528084																		owl:Class
MONDO:0010323	biolink:NamedThing	Atkin-Flaitz syndrome	Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.	mondoexuq1wtf	Atkin-Flaitz syndrome|Atkin syndrome|X-linked intellectual disability, Atkin type											GARD:0003537|Orphanet:1193|SCTID:718577005|ICD10:Q87.8|OMIM:300431																		owl:Class
MONDO:0040675	biolink:NamedThing	myofibroblastoma	A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.	mondoexuq1wtf	myofibroblastoma											NCIT:C49012|ICDO:8825/0																		owl:Class
MONDO:0020775	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation 1		mondoexuq1wtf	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1|Cdgf|CDGF1											OMIM:618005																		owl:Class
MONDO:0060720	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation		mondoexuq1wtf	congenital disorder of glycosylation with defective fucosylation|CDGF											UMLS:CN248517|OMIMPS:618005																		owl:Class
MONDO:0009288	biolink:NamedThing	glycogen storage disease Ib	A type of glycogenosis due to G6P deficiency.	mondoexuq1wtf	G6P deficiency type IB|glucose-6-phosphate Transport defect|glycogenosis due to glucose-6-phosphatase deficiency type 1B|GSD type IB|Gsd1C|glycogen storage disease type Ic|GSD1C|glycogenosis type 1b|GSD type 1b|glycogen storage disease type 1b|GSD Ib|glycogen storage disease Ic|G6P translocase deficiency|GSD1B|glycogenosis type IB|GSDIb|G6PT deficiency|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease Id|GSD Ic|GSD due to G6PT deficiency|glycogen storage disease type I non-a|glycogen storage disease Ib|glycogen storage disease due to G6P deficiency type IB|GSD due to G6P deficiency type IB|glycogen storage disease type IB|GSD type 1 non a					Editor note: TODO decide whether to merge Ic						GARD:0002515|UMLS:C0342749|ICD10:E74.0|OMIM:232220|NCIT:C122661|SCTID:30102006|Orphanet:79259|SCTID:237965005|MESH:C562594|OMIM:232240																		owl:Class
MONDO:0011435	biolink:NamedThing	microcephaly 2, primary, autosomal recessive, with or without cortical malformations		mondoexuq1wtf	MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations											UMLS:C1858535|DOID:0070293|MESH:C565794|OMIM:604317																		owl:Class
MONDO:0009565	biolink:NamedThing	microcephaly-glomerulonephritis-marfanoid habitus syndrome	This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.	mondoexuq1wtf	microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis											UMLS:C1855348|GARD:0003615|MESH:C565411|OMIM:248760|ICD10:Q87.8|Orphanet:2172														https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus				owl:Class
MONDO:0008468	biolink:NamedThing	spondyloarthropathy, susceptibility to, 2		mondoexuq1wtf	SPDA2|spondyloarthropathy, susceptibility to, 2											OMIM:183840|UMLS:C1866738|DOID:0080604																		owl:Class
MONDO:0024512	biolink:NamedThing	spondyloarthropathy, susceptibility to		mondoexuq1wtf	SPDA											UMLS:CN118840|OMIMPS:106300																		owl:Class
CL:0000835	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015797	biolink:NamedThing	UV-sensitive syndrome	UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.	mondoexuq1wtf	UVSS|UV sensitive syndrome											Orphanet:178338|ICD9:702.8|SCTID:698253007|GARD:0010947|OMIMPS:600630|DOID:0060240|MESH:C563466														https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome				owl:Class
MONDO:0018325	biolink:NamedThing	juvenile myasthenia gravis	Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.	mondoexuq1wtf	juvenile autoimmune myasthenia gravis|juvenile acquired myasthenia|pediatric myasthenia gravis|myasthenia gravis of childhood|childhood myasthenia gravis											ICD10:G70.0|Orphanet:391497																		owl:Class
MONDO:0012801	biolink:NamedThing	autism, susceptibility to, 15		mondoexuq1wtf	susceptibility to autism 15|autism, susceptibility to, type 15|autism, susceptibility to, 15|AUTS15											OMIM:612100																		owl:Class
MONDO:0023483	biolink:NamedThing	infectious myositis	An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.	mondoexuq1wtf	infectious myositis|infective myositis											GARD:0009131|ICD9:728.0|NCIT:C26984|SCTID:29689003														https://rarediseases.info.nih.gov/diseases/9131/infective-myositis				owl:Class
MONDO:0007593	biolink:NamedThing	facial spasm		mondoexuq1wtf	facial spasm											OMIM:134300																		owl:Class
MONDO:0008233	biolink:NamedThing	phaeochromocytoma		mondoexuq1wtf	pheochromocytoma, susceptibility to|pheochromocytoma											ONCOTREE:PHC|OMIM:171300|DOID:0050771																		owl:Class
MONDO:0000549	biolink:NamedThing	cervical neuroblastoma	A relatively uncommon neuroblastoma that is found in the neck.	mondoexuq1wtf	neuroblastoma of neck|neck neuroblastoma											DOID:0050935																		owl:Class
MONDO:0013834	biolink:NamedThing	UV-sensitive syndrome 3	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.	mondoexuq1wtf	UV-sensitive syndrome type 3|UVSS3|UV-sensitive syndrome 3|UV-sensitive syndrome caused by mutation in UVSSA|UVSSA UV-sensitive syndrome											OMIM:614640|UMLS:C3553328																		owl:Class
MONDO:0010209	biolink:NamedThing	xanthinuria type I	Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	mondoexuq1wtf	xanthine oxidase deficiency|type 1 xanthinuria|XDH deficiency|XO deficiency|xanthinuria, type 1|XAN1|XOR deficiency|isolated xanthine oxidase deficiency|hereditary xanthinuria, type I|xanthine oxidoreductase deficiency|xanthinuria type 1|xanthine dehydrogenase deficiency|xanthinuria, type I											Orphanet:93601|SCTID:72682008|ICD10:E79.8|MESH:C562584|OMIM:278300|GARD:0005621																		owl:Class
MONDO:0018268	biolink:NamedThing	Medich giant platelet syndrome	Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	mondoexuq1wtf	Medich macrothrombocytopenia											SCTID:718554005|UMLS:CN204847|ICD10:D69.1|Orphanet:370127|UMLS:C4305375																		owl:Class
MONDO:0000474	biolink:NamedThing	pericardium disease	A disease involving the pericardium.	mondoexuq1wtf	disorder of pericardium|disease or disorder of pericardium|pericardium disease|pericardium disease or disorder|disease of pericardium											DOID:0050829|ICD9:423.8|ICD9:423.9|UMLS:C0265122|SCTID:55855009																		owl:Class
MONDO:0002345	biolink:NamedThing	cervicitis	An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.	mondoexuq1wtf	cervicitis|cervicitis (disease)		cervicitis (disease)									DOID:2568|HP:0030160|ICD9:616.0|MESH:D002575|SCTID:37610005|NCIT:C26716|ICD10:N72																		owl:Class
MONDO:0021032	biolink:NamedThing	herpes zoster with dermatitis of eyelid	A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.	mondoexuq1wtf	Herpes zoster dermatitis of eyelids|Herpes Zoster Dermatitis of Eyelid|herpes zoster dermatitis of eyelid|herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelids|Herpes zoster with dermatitis of eyelid											ICD9:053.20|NCIT:C34696|UMLS:C0019362|SCTID:186525007																		owl:Class
MONDO:0020950	biolink:NamedThing	viral eye infection	Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.	mondoexuq1wtf	Viral Eye Infection|Viral Ocular Infection|Viral eye infection|Infection, Viral Ocular|Ocular Infection, Viral|Infections, Viral Ocular|OCULAR INFECT VIRAL|Viral Eye Infections|Viral Ocular Infections|Ocular Infections, Viral|Eye Infection, Viral|EYE INFECT VIRAL|Infection, Viral Eye|Eye Infections, Viral|viral eye infection|Infections, Viral Eye|VIRAL EYE INFECT											SCTID:312132001|UMLS:C0015407|MESH:D015828																		owl:Class
MONDO:0023619	biolink:NamedThing	lentigo maligna melanoma	Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.	mondoexuq1wtf	LMM|lentigo maligna melanoma|SKLMM|malignant lentigo melanoma|Hutchison melanotic freckle											ONCOTREE:SKLMM|ICD9:172.8|UMLS:C2739810|NCIT:C9151|GARD:0009962|SCTID:302837001|ICDO:8742/3														https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma				owl:Class
MONDO:0009645	biolink:NamedThing	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder		mondoexuq1wtf	monocyte chemotactic disorder											OMIM:252250|MESH:C565371|UMLS:C1854982																		owl:Class
MONDO:0009893	biolink:NamedThing	polydactyly, postaxial, type A5		mondoexuq1wtf	PAPA5|polydactyly, postaxial, type A5											UMLS:C3550661|OMIM:263450																		owl:Class
MONDO:0012051	biolink:NamedThing	periodontitis, aggressive, 2		mondoexuq1wtf	periodontitis, aggressive, 2|periodontitis, aggressive, type 2											MESH:C566946|OMIM:608526|UMLS:C1969478																		owl:Class
MONDO:0014112	biolink:NamedThing	cardiofaciocutaneous syndrome 2	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.	mondoexuq1wtf	cardiofaciocutaneous syndrome caused by mutation in KRAS|KRAS cardiofaciocutaneous syndrome|kras cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 2|CFC2|cardiofaciocutaneous syndrome type 2|cardiofaciocutaneous syndrome caused by mutation in kras											DOID:0111461|OMIM:615278|UMLS:C3809005																		owl:Class
MONDO:0013555	biolink:NamedThing	Hermansky-Pudlak syndrome 3	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome caused by mutation in HPS3|Hermansky-Pudlak syndrome 3|HPS3|HPS3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 3											UMLS:C3888001|DOID:0060541|OMIM:614072																		owl:Class
MONDO:0017697	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form		mondoexuq1wtf	glycogen storage disease type IV, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GSDIV, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form											UMLS:C1856303|Orphanet:308655|ICD10:E74.0																		owl:Class
MONDO:0016551	biolink:NamedThing	congenital primary megaureter, refluxing form		mondoexuq1wtf												Orphanet:238650|ICD10:Q62.2																		owl:Class
MONDO:0018960	biolink:NamedThing	congenital primary megaureter	Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.	mondoexuq1wtf	congenital megalo-ureter|congenital primary megalo-ureter|CGM|congenital giant megaureter											ICD10:Q62.2|SCTID:717459000|GARD:0001492|Orphanet:617|GARD:0000219														https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter|https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter				owl:Class
MONDO:0020297	biolink:NamedThing	Noonan syndrome and Noonan-related syndrome		mondoexuq1wtf												MESH:C537846|Orphanet:98733|UMLS:CN166718																		owl:Class
MONDO:0014565	biolink:NamedThing	cataract 43	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.	mondoexuq1wtf	CTRCT43|early-onset non-syndromic cataract caused by mutation in UNC45B|cataract 43|cataract type 43|UNC45B early-onset non-syndromic cataract											UMLS:C4225389|OMIM:616279|DOID:0110259|ICD10:Q12.0																		owl:Class
MONDO:0018228	biolink:NamedThing	bipartite talus	Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	mondoexuq1wtf												UMLS:CN227287|ICD10:Q66.8|Orphanet:364198|SCTID:763128009																		owl:Class
MONDO:0019170	biolink:NamedThing	polyarteritis nodosa	Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.	mondoexuq1wtf	panarteritis nodosa|periarteritis nodosa|Küssmaul-Maier disease|classical polyarteritis nodosa|polyarteritis nodosa|PAN|polyarteritis|classic polyarteritis nodosa|periarteritis											ICD10:M30.0|MedDRA:10036024|SCTID:155441006|MESH:D010488|GARD:0007360|COHD:320749|Orphanet:767|ICD9:446.0|NCIT:C26847|DOID:9810|UMLS:C0031036																		owl:Class
MONDO:0000954	biolink:NamedThing	Meckel diverticulum cancer	A cancer involving a Meckel's diverticulum.	mondoexuq1wtf	cancer of Meckel's diverticulum|Meckel diverticulum cancer|malignant neoplasm of Meckel's diverticulum|Meckel's diverticulum cancer|malignant Meckel's diverticulum neoplasm											DOID:10152|ICD9:152.3|SCTID:187752007|UMLS:C0153429																		owl:Class
MONDO:0021082	biolink:NamedThing	Meckel diverticulum neoplasm	A neoplasm involving a Meckel's diverticulum.	mondoexuq1wtf	Meckel's diverticulum neoplasm|tumor of Meckel's diverticulum|neoplasm of Meckel's diverticulum|Meckel's diverticulum tumor|Meckel's diverticulum neoplasm (disease)											UMLS:C0345839|SCTID:126836001																		owl:Class
MONDO:0008234	biolink:NamedThing	multiple endocrine neoplasia type 2A	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.	mondoexuq1wtf	MEA type 2a|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|multiple endocrine adenomatosis, type II|multiple endocrine neoplasia, type 2A|men-2A syndrome|men type 2a|multiple endocrine neoplasia type 2A|men type II|multiple endocrine neoplasia II|multiple endocrine adenomatosis type 2A|multiple endocrine neoplasia, type IIA|men 2A|thyroid carcinoma, familial medullary|multiple endocrine neoplasia, type II|multiple endocrine adenomatosis type 2a|Sipple syndrome|MEN2A|MEA type II|ptc syndrome|multiple endocrine adenomatosis type II|multiple endocrine neoplasia type II|pheochromocytoma and amyloid producing medullary thyroid carcinoma											NCIT:C3226|ICD9:258.02|MESH:D018813|GARD:0004881|UMLS:C0025268|DOID:0050430|Orphanet:247698|ICD10:D44.8|SCTID:721188000|OMIM:171400|ICD10:E31.22														https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a				owl:Class
MONDO:0018136	biolink:NamedThing	minimal pigment oculocutaneous albinism type 1	Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.	mondoexuq1wtf	MP OCA type 1|OCA1-MP											UMLS:CN204521|ICD10:E70.3|SCTID:237919007|ICD9:270.2|Orphanet:352734																		owl:Class
MONDO:0018135	biolink:NamedThing	oculocutaneous albinism type 1	Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	mondoexuq1wtf	OCA1|oculocutaneous albinism, tyrosinase negative|ATN											ICD10:E70.3|SCTID:765146000|GARD:0004037|Orphanet:352731|UMLS:CN119529																		owl:Class
MONDO:0000679	biolink:NamedThing	social emotional agnosia	An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.	mondoexuq1wtf	expressive agnosia											DOID:0060149																		owl:Class
MONDO:0001797	biolink:NamedThing	chancroid	Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.	mondoexuq1wtf	Chancroids|Ulcus molle, skin											SCTID:266143009|COHD:138973|DOID:13778|MESH:D002602|ICD10:A57|GARD:0009522|ICD9:099.0|UMLS:C0007947														https://rarediseases.info.nih.gov/diseases/9522/chancroid				owl:Class
MONDO:0006926	biolink:NamedThing	haemophilus infectious disease	Infections with bacteria of the genus haemophilus.	mondoexuq1wtf	Haemophilus infection|Haemophilus infectious disease|Hemophilus infections|infections, Haemophilus|Hemophilus infection|infections, Hemophilus|infection, Haemophilus|Haemophilus disease or disorder|haemophilus infectious disease|Haemophilus caused disease or disorder|infection, Hemophilus											SCTID:41659003|EFO:1001127|MESH:D006192|NCIT:C34654																		owl:Class
MONDO:0007979	biolink:NamedThing	metachondromatosis	Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.	mondoexuq1wtf	METACHONDROMATOSIS|METCDS|metachondromatosis											Orphanet:2499|SCTID:205481009|ICD9:756.59|ICD10:Q78.4|OMIM:156250|MESH:C562938|DOID:0111512|GARD:0003560|UMLS:C0410530														https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis				owl:Class
MONDO:0044765	biolink:NamedThing	steroid-resistant nephrotic syndrome	Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.	mondoexuq1wtf	steroid-unresponsive nephrotic syndrome|nephrotic syndrome, steroid-resistant, autosomal recessive|NPHS2|nephrotic syndrome, idiopathic, steroid-resistant|nephrotic syndrome of childhood - steroid resistant|nephrotic syndrome-steroid-resistant|steroid-resistant nephrotic syndrome|SRNS - steroid-resistant nephrotic syndrome											UMLS:CN034406|SCTID:236381000|NCIT:C122798|GTR:AN0096391|GTR:AN0096395|GTR:AN0255485|GTR:AN0200342																		owl:Class
MONDO:0032884	biolink:NamedThing	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies		mondoexuq1wtf	EDFAOB|ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES											OMIM:618727																		owl:Class
MONDO:0013933	biolink:NamedThing	peroxisome biogenesis disorder 5B		mondoexuq1wtf	peroxisome biogenesis disorder type 5B|peroxisome biogenesis disorder 5B|PBD5B											NCIT:C155757|OMIM:614867|UMLS:C3542026														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100260	biolink:NamedThing	peroxisome biogenesis disorder due to PEX2 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX2 defect|PEX2 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0009192	biolink:NamedThing	Wolcott-Rallison syndrome	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.	mondoexuq1wtf	MED-IDDM syndrome|WRS|epiphyseal dysplasia multiple with early-onset diabetes mellitus|early-onset diabetes mellitus with multiple epiphyseal dysplasia|IDDM-MED syndrome|Wolcott-Rallison syndrome|Wolcott Rallison syndrome|Med-Iddm syndrome|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Iddm-Med syndrome											MESH:C536739|ICD10:E13|NCIT:C131007|UMLS:C0432217|DOID:0090060|GARD:0005589|Orphanet:1667|OMIM:226980|SCTID:254066006														https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus				owl:Class
MONDO:0007056	biolink:NamedThing	acroosteolysis	A condition that is characterized by degeneration of the distal phalanges.	mondoexuq1wtf	acroosteolysis											OMIM:102400|MESH:D030981|NCIT:C35545|SCTID:27201004																		owl:Class
MONDO:0009122	biolink:NamedThing	Dohle bodies and leukemia		mondoexuq1wtf	Dohle bodies and leukemia											MESH:C565617|OMIM:223350|UMLS:C1857225																		owl:Class
MONDO:0004441	biolink:NamedThing	childhood ovarian embryonal carcinoma	An embryonal carcinoma that arises from the ovary and occurs in children.	mondoexuq1wtf	pediatric ovarian embryonal carcinoma|childhood embryonal carcinoma of ovary|pediatric embryonal carcinoma of the ovary|childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of ovary|ovarian embryonal carcinoma of childhood											UMLS:C1332989|DOID:8036|NCIT:C6546																		owl:Class
MONDO:0020155	biolink:NamedThing	eyelid border anomaly		mondoexuq1wtf												Orphanet:98564																		owl:Class
MONDO:0009274	biolink:NamedThing	ghosal hematodiaphyseal dysplasia	Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.	mondoexuq1wtf	Ghosal hematodiaphyseal dysplasia syndrome|diaphyseal dysplasia-anemia syndrome|GHOSAL hematodiaphyseal dysplasia|GHDD|ghosal hematodiaphyseal dysplasia|Ghosal syndrome											ICD9:756.59|SCTID:389214003|GARD:0010297|MESH:C565551|OMIM:231095|Orphanet:1802														https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome				owl:Class
MONDO:0009021	biolink:NamedThing	Toriello-Carey syndrome	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	mondoexuq1wtf	corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|agenesis of corpus callosum with facial anomalies and Robin sequence|corpus callosum agenesis facial anomalies Robin sequence|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|Toriello-Carey syndrome											Orphanet:3338|GARD:0005225|OMIM:217980|MESH:C563127|UMLS:C0796184|SCTID:722477003|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome				owl:Class
MONDO:0001967	biolink:NamedThing	gonadal dysgenesis	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.	mondoexuq1wtf	gonadal dysgenesis syndrome											NCIT:C61420|MESH:D006059|DOID:14447|GARD:0002538|COHD:201951|SCTID:205681004|ICD9:758.6														https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis				owl:Class
MONDO:0011936	biolink:NamedThing	microphthalmia with brain and digit anomalies	Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.	mondoexuq1wtf	microphthalmia with brain and digit developmental anomalies|microphthalmia and pituitary anomalies|MCOPS6|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|syndromic microphthalmia type 6|microphthalmia, syndromic 6|Bakrania-Ragge syndrome|microphthalmia, syndromic type 6|microphthalmia syndromic 6											UMLS:C4303070|SCTID:721878003|GARD:0003645|MESH:C566440|UMLS:C1864689|OMIM:607932|Orphanet:139471|ICD10:Q11.2																		owl:Class
MONDO:0008919	biolink:NamedThing	systemic primary carnitine deficiency disease	Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.	mondoexuq1wtf	CARNITINE deficiency, systemic primary|carnitine uptake defect|systemic primary carnitine deficiency|Carnitine uptake defect|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|deficiency of plasma-membrane carnitine transporter|carnitine transporter deficiency|Carnitine uptake deficiency|Carnitine transporter defect|renal carnitine transport defect|primary carnitine deficiency|SPCD|Carnitine transporter, plasma-Membrane, deficiency of|Carnitine deficiency, primary|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|systemic Carnitine deficiency|CDSP|Carnitine deficiency|cud|Carnitine plasma-membrane transporter deficiency											Orphanet:158|NCIT:C98864|ICD10:E71.3|ICD9:277.81|DOID:14365|SCTID:21764004|GARD:0005104|ICD9:277.82|ICD10:E71.41|ICD10:E71.42|UMLS:C0342788|MESH:C536778|OMIM:212140																		owl:Class
MONDO:0011899	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair	Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.	mondoexuq1wtf	NS/LAH|Noonan syndrome-like disorder with loose anagen hair 1|Tosti syndrome|Noonan syndrome-like disorder with loose anagen hair|NSLH|Noonan-like syndrome with loose anagen hair|NSLH1											MESH:C564342|ICD10:Q87.1|Orphanet:2701|GARD:0010719|OMIMPS:607721|UMLS:C3501846|UMLS:C1843181|SCTID:723444009																		owl:Class
MONDO:0016470	biolink:NamedThing	Ehlers-Danlos/osteogenesis imperfecta syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	mondoexuq1wtf	EDS/OI syndrome											Orphanet:230857|ICD10:Q79.6|OMIMPS:619115|UMLS:CN201460|MESH:C565178																		owl:Class
MONDO:0007375	biolink:NamedThing	epithelial basement membrane dystrophy		mondoexuq1wtf	Map-dot-fingerprint dystrophy of cornea|EBMD|microcystic dystrophy of the cornea|anterior basement membrane dystrophy|microcystic corneal dystrophy|corneal dystrophy, microcystic|corneal dystrophy, Map-Dot-Fingerprint type|corneal dystrophy, epithelial basement MEMBRANE|Map-dot-fingerprint dystrophy|corneal dystrophy, anterior basement Membrane|Cogan corneal dystrophy|Cogan microcystic epithelial dystrophy|epithelial basement membrane corneal dystrophy											MESH:C535477|DOID:0060447|SCTID:373426005|GARD:0009732|ICD10:H18.5|Orphanet:98956|OMIM:121820																		owl:Class
MONDO:0000764	biolink:NamedThing	epithelial-stromal TGFBI dystrophy	Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.	mondoexuq1wtf	corneal dystrophy (disease) caused by mutation in TGFBI|TGFBI corneal dystrophy (disease)											DOID:0060441																		owl:Class
MONDO:0018845	biolink:NamedThing	focal myositis	Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.	mondoexuq1wtf	inflammatory pseudotumor of skeletal muscle|focal nodular myositis											Orphanet:48918|ICD9:729.1|SCTID:240119009|ICD10:M60.8																		owl:Class
MONDO:0012032	biolink:NamedThing	Braddock syndrome	Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	mondoexuq1wtf	Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency|VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency											OMIM:608406|UMLS:C1842082|Orphanet:52047|ICD10:Q87.8|UMLS:C4303988|SCTID:720575002|MESH:C564244																		owl:Class
MONDO:0044309	biolink:NamedThing	Diamond-Blackfan anemia 16		mondoexuq1wtf	Diamond-Blackfan anemia 16|DBA16											OMIM:617408|UMLS:C4479424																		owl:Class
MONDO:0032868	biolink:NamedThing	lessel-kubisch syndrome		mondoexuq1wtf	LSKB|LESSEL-KUBISCH SYNDROME											OMIM:618681																		owl:Class
MONDO:0020019	biolink:NamedThing	digestive tract malformation		mondoexuq1wtf												Orphanet:98039																		owl:Class
MONDO:0009370	biolink:NamedThing	L-2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.	mondoexuq1wtf	L-2-hydroxyglutaric acidemia|L-2-HGA|L2HGA|L-2-hydroxyglutaric aciduria											DOID:0050574|ICD10:E72.8|UMLS:C1855995|UMLS:C3888081|Orphanet:79314|SCTID:237961001|GARD:0010472|OMIM:236792														https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria				owl:Class
MONDO:0016001	biolink:NamedThing	2-hydroxyglutaric aciduria	2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.	mondoexuq1wtf	2-HGA|2-hydroxyglutaric aciduria|2-hydroxyglutaric acidemia											DOID:0050573|ICD9:270.8|SCTID:698870008|UMLS:C2746066|MESH:C535306|Orphanet:19|NCIT:C128187|ICD10:E72.8|GARD:0010761														https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria				owl:Class
MONDO:0000182	biolink:NamedThing	congenital myasthenic syndrome with tubular aggregates	A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.	mondoexuq1wtf	myasthenic syndrome, congenital, with tubular aggregates|CMS-TA											DC:0000677|UMLS:CN228621|OMIMPS:610542																		owl:Class
MONDO:0010533	biolink:NamedThing	Arts syndrome	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	mondoexuq1wtf	mental retardation, X-linked, syndromic 18|intellectual disability, X-linked, syndromic 18|mental retardation, X-linked, syndromic, Arts type|syndromic X-linked intellectual disability Arts type|syndromic X-linked mental retardation 18|Arts syndrome|intellectual disability, X-linked, syndromic, Arts type|ataxia, fatal X-linked, with deafness and loss of vision|fatal X-linked ataxia with deafness and loss of vision|MRXS18|lethal ataxia with deafness and optic atrophy|syndromic X-linked intellectual disability 18|syndromic X-linked mental retardation Arts type|X-linked fatal ataxia with deafness and loss of vision|Arts|MRXSARTS|lethal ataxia-deafness-optic atrophy											ICD9:277.2|UMLS:C0796028|Orphanet:1187|OMIM:301835|MESH:C535388|ICD10:E79.8|DOID:0050647|GARD:0008756|SCTID:702441001														https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome				owl:Class
MONDO:0016441	biolink:NamedThing	acquired pseudoxanthoma elasticum	A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.	mondoexuq1wtf	acquired pseudoxanthoma elasticum|acquired pseudoxanthoma elasticum (inherited or acquired)|acquired Gronblad-Strandberg-Touraine syndrome|localized acquired cutaneous pseudoxanthoma elasticum|acquired PXE											ICD9:757.39|Orphanet:228247|SCTID:403401007|UMLS:C1274759																		owl:Class
MONDO:0024308	biolink:NamedThing	pseudoxanthoma elasticum (inherited or acquired)	An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.	mondoexuq1wtf	pseudoxanthoma elasticum|PXE											ICD9:757.39|SCTID:252246005														https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum				owl:Class
MONDO:0018118	biolink:NamedThing	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement		mondoexuq1wtf												Orphanet:352306|UMLS:CN227265																		owl:Class
MONDO:0010642	biolink:NamedThing	Lesch-Nyhan phenotype with normal HGPRT		mondoexuq1wtf	Lesch-Nyhan phenotype with normal HGPRT											OMIM:308950																		owl:Class
MONDO:0010298	biolink:NamedThing	Lesch-Nyhan syndrome	Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.	mondoexuq1wtf	hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|Lesch-Nyhan syndrome, neurologic variant|hypoxanthine guanine phosphoribosyltransferase complete deficiency|HPRT complete deficiency|complete hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT deficiency, neurologic variant|Lesch Nyhan syndrome|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|HPRT deficiency grade IV|HPRT deficiency, complete|X-linked hyperuricemia|Hprt1 deficiency|Lesch Nyhan disease|X-linked hyperuricemia (disorder) [ambiguous]|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|LNS|Lesch - Nyhan syndrome|Lesch-Nyhan syndrome|HG-PRT deficiency|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|deficiency of IMP pyrophosphorylase|HPRT deficiency											UMLS:CN205196|OMIM:300322|Orphanet:510|GARD:0007226|SCTID:10406007|DOID:1919|MESH:D007926|MedDRA:10057589|ICD10:E79.1|ICD9:277.2|UMLS:C0023374|NCIT:C61255																		owl:Class
MONDO:0002138	biolink:NamedThing	allergic contact dermatitis of eyelid	A allergic contact dermatitis that involves the eyelid.	mondoexuq1wtf	contact and allergic dermatitis of eyelid|eyelid allergic contact dermatitis											SCTID:402249007|ICD9:373.32|ICD9:692.9|DOID:1895|UMLS:C0155178																		owl:Class
MONDO:0015008	biolink:NamedThing	amelogenesis imperfecta, type 1J		mondoexuq1wtf	amelogenesis imperfecta, type 1J|AI1J|amelogenesis imperfecta, type Ij											OMIM:617297																		owl:Class
MONDO:0007673	biolink:NamedThing	Glucoglycinuria		mondoexuq1wtf	Glucoglycinuria											UMLS:C0268536|OMIM:138070|MESH:C562670																		owl:Class
MONDO:0012240	biolink:NamedThing	nemaline myopathy 4	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.	mondoexuq1wtf	nemaline myopathy caused by mutation in TPM2|nemaline myopathy 4|NEM4|nemaline myopathy type 4|nemaline myopathy 4, autosomal dominant|Cap myopathy 2|TPM2 nemaline myopathy											MESH:C538351|UMLS:C1836447|OMIM:609285|DOID:0110932																		owl:Class
MONDO:0004616	biolink:NamedThing	herpetic whitlow	A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.	mondoexuq1wtf	herpetic felon|Simplexvirus caused paronychia (disease)|Simplexvirus paronychia (disease)											UMLS:C0153042|NCIT:C128402|SCTID:43891009|DOID:8607|ICD9:054.6|COHD:76034																		owl:Class
MONDO:0011019	biolink:NamedThing	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.	mondoexuq1wtf	alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome|alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism											Orphanet:1014|OMIM:601217|SCTID:720981000|MESH:C563370																		owl:Class
MONDO:0003410	biolink:NamedThing	Wolffian duct adenocarcinoma	A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.	mondoexuq1wtf	Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma|mesonephric duct adenocarcinoma											UMLS:C1516419|DOID:5368|NCIT:C40254																		owl:Class
MONDO:0017061	biolink:NamedThing	closed iniencephaly		mondoexuq1wtf												ICD10:Q00.2|SCTID:203927003|Orphanet:268366																		owl:Class
MONDO:0018968	biolink:NamedThing	iniencephaly	Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.	mondoexuq1wtf												Orphanet:63259|UMLS:C0152234|ICD9:740.2|MedDRA:10022034|NCIT:C124549|ICD10:Q00.2|SCTID:2438005|COHD:378848|GARD:0010506														https://rarediseases.info.nih.gov/diseases/10506/iniencephaly				owl:Class
MONDO:0012937	biolink:NamedThing	Diamond-Blackfan anemia 6	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.	mondoexuq1wtf	Diamond-Blackfan anemia 6|Diamond-Blackfan Anemia type 6|Aase-Smith syndrome 2|DBA6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL5											OMIM:612561																		owl:Class
MONDO:0007143	biolink:NamedThing	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	mondoexuq1wtf	aortic arch anomaly with peculiar facies and mental retardation|aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly-peculiar facies-intellectual disability syndrome|familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly - peculiar facies - intellectual disability											GARD:0000739|UMLS:C1862682|OMIM:107500|MESH:C537785|Orphanet:1110|ICD10:Q87.8																		owl:Class
MONDO:0000616	biolink:NamedThing	progesterone-receptor negative breast cancer		mondoexuq1wtf						Editor note: check why not in NCIT; note also that triple-negative should be classified here						DOID:0060078																		owl:Class
MONDO:0009891	biolink:NamedThing	acquired polycythemia vera	Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	mondoexuq1wtf	primary polycythemia|polycythemia rubra vera|polycythemia vera|PRV|Vaquez disease|Osler-Vaquez disease|acquired primary erythrocytosis|proliferative polycythaemia|PV|polycythaemia rubra vera|Osler-Vaquez syndrome											COHD:135214|MESH:D011087|NCIT:C3336|ICD9:238.4|GARD:0007422|Orphanet:729|ICDO:9950/3|UMLS:C0032463|DOID:8997|ICD10:D45|MedDRA:10036057|EFO:0002429|OMIM:263300|ONCOTREE:PV																		owl:Class
MONDO:0013674	biolink:NamedThing	neurodegeneration with brain iron accumulation 4	Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.	mondoexuq1wtf	neurodegeneration with brain iron accumulation type 4|mitochondrial membrane protein-associated neurodegeneration|neurodegeneration with brain iron accumulation 4|NBIA due to C19orf12 mutation|NBIA4|neurodegeneration with brain iron accumulation due to C19orf12 mutation|C19orf12 neurodegeneration with brain iron accumulation|MPAN|mitochondrial Protein-associated neurodegeneration|neurodegeneration with brain iron accumulation caused by mutation in C19orf12											GARD:0012569|SCTID:709415008|DOID:0110738|OMIM:614298|Orphanet:289560|ICD9:333.0|UMLS:C3280371|ICD10:G23.0																		owl:Class
MONDO:0017851	biolink:NamedThing	erythrokeratodermia variabilis	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.	mondoexuq1wtf	erythrokeratodermia, progressive symmetric|progressive symmetric erythrokeratodermia, Gottron type|EKVP|erythrokeratodermia variabilis with erythema gyratum repens|keratosis extremitatum hereditaria progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|keratosis palmoplantaris transgrediens Et progrediens|keratosis palmoplantaris transgrediens et progrediens|Darier-Gottron disease|erythrokeratodermia figurata, congenital familial, in plaques|keratoderma palmoplantaris transgrediens|progressive symmetric erythrokeratodermia|erythrokeratodermia Figurata, congenital familial, in plaques|erythrokeratodermia variabilis ET progressiva|erythrokeratodermia variabilis|Greither's disease|EKV|erythrokeratodermia Figurata variabilis|erythrokeratodermia progressiva symmetrica|erythrokeratodermia variabilis, Mendes da Costa type											UMLS:C0265961|ICD10:Q82.8|GARD:0003096|MESH:D056266|MESH:C536154|SCTID:70041004|DOID:0050467|MedDRA:10049048|NCIT:C84696|Orphanet:316|Orphanet:317|OMIMPS:133200														https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens				owl:Class
MONDO:0100257	biolink:NamedThing	peroxisomal single enzyme/protein defect	Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.	mondoexuq1wtf	peroxisomal single enzyme/protein defect							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0020311	biolink:NamedThing	chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	mondoexuq1wtf	CMML|chronic myelomonocytic leukemia (CMML)|chronic myelomonocytic leukemia											MESH:D015477|SCTID:127225006|MedDRA:10009018|NCIT:C3178|ONCOTREE:CMML|Orphanet:98823|GARD:0008225|UMLS:C0023480|ICD10:C93.1|DOID:0080188|ICDO:9945/3																		owl:Class
MONDO:0006311	biolink:NamedThing	myelodysplastic/myeloproliferative Neoplasm	A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.	mondoexuq1wtf	MDS-MPD|MDS/MPD|myelodysplastic myeloproliferative cancer|MPD/MDS|myeloproliferative/myelodysplastic syndromes|myelodysplastic/myeloproliferative neoplasms|MDS/MPN|myelodysplastic/myeloproliferative Neoplasm|myeloproliferative/myelodysplastic disorders|myelodysplastic myeloproliferative disease|myelodysplastic/myeloproliferative disease|myelodysplastic/myeloproliferative disorder|MPD-MDS|myelodysplastic/myeloproliferative disorders|myelodysplastic/myeloproliferative diseases											EFO:1000388|SCTID:445738007|ICDO:9975/3|ONCOTREE:MDS%2FMPN|NCIT:C27262|DOID:4972																		owl:Class
MONDO:0005915	biolink:NamedThing	pityriasis versicolor	A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.	mondoexuq1wtf	tinea versicolor|Malassezia furfur infection|tinea flava|infections, Malassezia furfur|infection by Pityrosporum furfur											DOID:9060|NCIT:C82981|EFO:0007439|ICD9:111.0|MESH:D014010|SCTID:56454009|UMLS:C0040262|ICD10:B36.0|COHD:134870																		owl:Class
MONDO:0012059	biolink:NamedThing	polydactyly, postaxial, type A4		mondoexuq1wtf	polydactyly, postaxial, type A4|Papa4|postaxial polydactyly, type A4											OMIM:608562|UMLS:C1837868|MESH:C563909																		owl:Class
MONDO:0013675	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 2	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.	mondoexuq1wtf	fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|BOLA3 fatal multiple mitochondrial dysfunctions syndrome|BOLA3 deficiency|multiple mitochondrial dysfunctions syndrome 2|multiple mitochondrial dysfunctions syndrome type 2|MMDS2											ICD10:E88.8|DOID:0080134|UMLS:C3280378|Orphanet:401874|OMIM:614299																		owl:Class
MONDO:0017338	biolink:NamedThing	fatal multiple mitochondrial dysfunctions syndrome	Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.	mondoexuq1wtf	MMDS|fatal multiple mitochondrial dysfunction syndrome|multiple mitochondrial dysfunctions syndrome											UMLS:C3502075|OMIMPS:605711|DOID:0070330|Orphanet:289573|SCTID:720827002|UMLS:CN202994|MESH:C565304|UMLS:CN234684|GARD:0012632																		owl:Class
MONDO:0018206	biolink:NamedThing	childhood-onset autosomal recessive myopathy with external ophthalmoplegia		mondoexuq1wtf												ICD10:G71.2|Orphanet:363677																		owl:Class
MONDO:0024323	biolink:NamedThing	glomangiomyoma	A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.	mondoexuq1wtf	glomangiomyoma											NCIT:C4223|ICDO:8713/0|UMLS:C0334422|DOID:8020																		owl:Class
MONDO:0020338	biolink:NamedThing	adult pure red cell aplasia	Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.	mondoexuq1wtf	adult pure red-cell aplasia|acquired pure red cell aplasia|pure red-cell aplasia of adults|acquired PRCA|idiopathic pure red cell aplasia											GARD:0010898|ICD10:D60.0|UMLS:C0340961|SCTID:765748009|Orphanet:98872|NCIT:C70548																		owl:Class
MONDO:0006650	biolink:NamedThing	anterior spinal artery syndrome	Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)	mondoexuq1wtf	syndromic disease of anterior spinal artery|anterior spinal artery syndromic disease											MedDRA:10002703|DOID:6712|SCTID:2972007|MESH:D020759|ICD9:433.80|UMLS:C0221069|EFO:1000810																		owl:Class
MONDO:0010007	biolink:NamedThing	microbrachycephaly-ptosis-cleft lip syndrome	Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	mondoexuq1wtf	short stature, intellectual disability, eye anomalies, and cleft Lip/palate|Richieri-COSTA/Guion-Almeida syndrome|sao Paulo MCA/Mr syndrome|short stature, mental retardation, eye anomalies, and cleft Lip/palate|Richieri Costa-Guion Almeida-Ramos syndrome|microbrachycephaly ptosis cleft lip											Orphanet:2511|UMLS:C0796142|ICD10:Q87.8|GARD:0003596|OMIM:268850														https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip				owl:Class
MONDO:0008401	biolink:NamedThing	pleomorphic adenoma	A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).	mondoexuq1wtf	pleomorphic adenoma (morphologic abnormality)|pleomorphic salivary gland adenoma|tumor, mixed, benign|Sgpa|pleomorphic adenoma|salivary gland adenoma, pleomorphic|Psa|mixed tumor of the salivary gland											ICDO:8940/0|OMIM:181030|DOID:452|SCTID:447888006|Orphanet:454821|ICD10:D11.0|NCIT:C8602|MESH:D008949|EFO:1000384																		owl:Class
MONDO:0030896	biolink:NamedThing	chromosome 13q33-q34 deletion syndrome		mondoexuq1wtf												OMIM:619148																		owl:Class
MONDO:0017618	biolink:NamedThing	congenital sucrase-isomaltase deficiency with starch intolerance		mondoexuq1wtf	congenital sucrose intolerance with starch intolerance|CSID with starch intolerance|disaccharide intolerance with starch intolerance|congenital sucrase-isomaltose malabsorption with starch intolerance											Orphanet:306436|ICD10:E74.3																		owl:Class
MONDO:0009114	biolink:NamedThing	congenital sucrase-isomaltase deficiency	A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.	mondoexuq1wtf	sucrose intolerance congenital|intestinal sucrase-a-dextrinase deficiency|CSID|genetic sucrase-isomaltose malabsorption|disaccharide intolerance, 1|invertase deficiency|SI deficiency|sucrose isomaltose enzyme deficiency|sucrose-isomaltase malabsorption, congenital|disaccharide intolerance|sucrase-isomaltase deficiency, congenital|sucrose-isomaltose malabsorption, congenital|congenital sucrose malabsorption|sucrase-isomaltase deficiency|congenital sucrose-isomaltase intolerance|congenital sucrose-isomaltase malabsorption|congenital sucrose intolerance|sucrose intolerance, congenital|sucrase-alpha-dextrinase deficiency|disaccharide intolerance i|disaccharide intolerance 1|congenital sucrase-isomaltose malabsorption											MESH:C538139|Orphanet:35122|GARD:0006183|NCIT:C128190|SCTID:78373000|UMLS:C1283620|DOID:0111633|OMIM:222900|GARD:0007710|ICD10:E74.3|ICD9:271.3|MedDRA:10066387														https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency|https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption				owl:Class
MONDO:0021490	biolink:NamedThing	benign neoplasm of sebaceous gland	A benign neoplasm that involves the sebaceous gland.	mondoexuq1wtf	benign sebaceous skin tumor|benign neoplasm of the sebaceous gland|benign sebaceous skin neoplasm|benign sebaceous tumor|benign sebaceous gland tumor|benign tumor of sebaceous gland|benign tumor of the sebaceous gland|benign sebaceous gland neoplasm|benign sebaceous neoplasm|sebaceous gland benign neoplasm											SCTID:92337009|UMLS:C0684358|NCIT:C8525																		owl:Class
MONDO:0007046	biolink:NamedThing	hereditary papulotranslucent acrokeratoderma	A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.	mondoexuq1wtf	acrokeratoderma, hereditary papulotranslucent											DOID:0060360|MESH:C566323|OMIM:101840|UMLS:C1863343|EFO:1000708																		owl:Class
MONDO:0009232	biolink:NamedThing	Fuhrmann syndrome	Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	mondoexuq1wtf	fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|Fuhrmann syndrome|Fuhrmann-Rieger-de Sousa syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies											ICD10:Q74.8|UMLS:C1856728|SCTID:721296004|DOID:0090067|OMIM:228930|GARD:0002410|Orphanet:2854|MESH:C538189														https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome				owl:Class
MONDO:0016295	biolink:NamedThing	neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.	mondoexuq1wtf	ceroid lipofuscinoses|NCL|hereditary ceroid lipofuscinosis											DOID:14503|NCIT:C61257|UMLS:C0027877|Orphanet:216|OMIMPS:256730|SCTID:42012007|ICD10:E75.4|GARD:0010739																		owl:Class
MONDO:0016609	biolink:NamedThing	inflammatory myopathy with abundant macrophages	Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	mondoexuq1wtf	imam											UMLS:CN201809|SCTID:766706007|ICD10:G72.4|Orphanet:247718																		owl:Class
MONDO:0044137	biolink:NamedThing	vitreous body disorder	Any disease affecting the vitreous body of the eye.	mondoexuq1wtf	disease or disorder of vitreous body|vitreous body disease|disorder of vitreous body|vitreous body disease or disorder|disease of vitreous body|vitreous body disorder											NCIT:C45256|SCTID:76682005|ICD9:379.29|UMLS:C0155365|EFO:0008624																		owl:Class
MONDO:0004181	biolink:NamedThing	breast adenomyoepithelial adenosis	An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.	mondoexuq1wtf												NCIT:C40391|UMLS:C1511283|DOID:7312																		owl:Class
MONDO:0020132	biolink:NamedThing	cranial nerve and nuclear aplasia		mondoexuq1wtf												Orphanet:98518																		owl:Class
MONDO:0016821	biolink:NamedThing	shoulder and girdle defects-familial intellectual disability syndrome		mondoexuq1wtf	shoulder girdle defect mental retardation familial|shoulder girdle defect intellectual disability familial											UMLS:CN227007|GARD:0004860|Orphanet:2580|ICD10:Q87.2																		owl:Class
MONDO:0018408	biolink:NamedThing	cystic echinococcosis		mondoexuq1wtf	lung echinococcus granulosus|echinococcus granulosus infectious disease of thyroid|echinococcus granulosus|Echinococcus granulosus infection of thyroid|unilocular echinococcosis|unilocular hydatid disease|liver echinococcus granulosus|Echinococcus granulosus infectious disease of liver|Hydatidosis|hydatid disease|Echinococcus granulosus infection of lung|echinococcus granulosus infectious disease of liver|Echinococcus granulosus infection|thyroid echinococcus granulosus											DOID:1495|ICD10:B67.5|Orphanet:400|UMLS:C0153291|MedDRA:10014096|UMLS:C4303092|UMLS:C0153290|ICD10:B67.8|ICD10:B67.4|COHD:255477|GARD:0002764|ICD9:122.4|SCTID:721822004|ICD10:B67.1|ICD10:B67.3|ICD10:B67.2|ICD10:B67.0|ICD10:B67.6|ICD10:B67.9|ICD10:B67.7																		owl:Class
MONDO:0044346	biolink:NamedThing	echinococcus granulosus infectious disease	An disease or disorder caused by infection with Echinococcus granulosus.	mondoexuq1wtf	Echinococcus granulosus infectious disease|Echinococcus granulosus caused disease or disorder|Echinococcus granulosus disease or disorder|unilocular hydatid disease|echinococcus granulosus infection|echinococcus granulosus infectious disease											ICD9:122.4|ICD9:122.3|UMLS:C0152068|SCTID:75006000																		owl:Class
MONDO:0005437	biolink:NamedThing	testicular dysgenesis syndrome	A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.	mondoexuq1wtf												UMLS:C2919755|EFO:0004893|SCTID:445338005																		owl:Class
MONDO:0021091	biolink:NamedThing	papillary cystadenoma	A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.	mondoexuq1wtf	papillary cystadenoma|cystadenoma, papillary, benign											NCIT:C2974|MESH:D018292|UMLS:C0010636|ICDO:8450/0																		owl:Class
MONDO:0003475	biolink:NamedThing	papillary ependymoma	A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)	mondoexuq1wtf	papillary ependymoma											DOID:5505|NCIT:C4319|ICDO:9393/3|UMLS:C0334578																		owl:Class
MONDO:0016698	biolink:NamedThing	ependymoma	A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)	mondoexuq1wtf	epithelial ependymoma|tanycytic ependymoma (histologic variant)|ependymoma, familial|ependymoma|WHO grade II ependymal tumor|clear cell ependymoma (histologic variant)|WHO grade II ependymal neoplasm|papillary ependymoma (histologic variant)|ependymoma, benign|benign ependymoma											UMLS:C0014474|NCIT:C3017|MESH:D004806|GARD:0006353|ICD10:D43.2|Orphanet:251636|UMLS:CN201941|MedDRA:10014967|ICDO:9391/3|DOID:4844|ONCOTREE:EPM																		owl:Class
MONDO:0016512	biolink:NamedThing	Kabuki syndrome	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.	mondoexuq1wtf	Niikawa-Kuroki syndrome|KMS|NKS|Kabuki make up syndrome|Kabuki make-up syndrome											Orphanet:2322|ICD10:Q87.0|NCIT:C124837|SCTID:313426007|DOID:0060473|OMIMPS:147920|GARD:0006810|MESH:C537705|UMLS:C0796004|MedDRA:10063935																		owl:Class
MONDO:0020159	biolink:NamedThing	congenital entropion		mondoexuq1wtf												ICD10:Q10.2|SCTID:20392000|Orphanet:98568|MedDRA:10014923																		owl:Class
MONDO:0013990	biolink:NamedThing	pontocerebellar hypoplasia type 8	A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	mondoexuq1wtf	PCH8|pontocerebellar hypoplasia due to CHMP1A mutation|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|CHMP1A non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 8											Orphanet:324569|ICD10:Q04.3|DOID:0060277|SCTID:718611007|UMLS:C3554209|OMIM:614961																		owl:Class
MONDO:0015727	biolink:NamedThing	mosaic trisomy 15	Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	mondoexuq1wtf	trisomy 15 mosaicism|Mosaic trisomy type 15|Mosaic trisomy chromosome 15|chromosome 15, trisomy mosaicism											SCTID:764619001|ICD10:Q92.1|UMLS:CN035788|MESH:C538037|GARD:0005313|Orphanet:1706																		owl:Class
MONDO:0019963	biolink:NamedThing	bronchial endocrine tumor	A neuroendocrine neoplasm that involves the bronchus.	mondoexuq1wtf	bronchial neuroendocrine tumor|neuroendocrine neoplasm of bronchus|bronchial NET|bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|bronchus NET											UMLS:CN206886|ICD10:D38.1|Orphanet:97287																		owl:Class
MONDO:0016044	biolink:NamedThing	cleft lip/palate	Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.	mondoexuq1wtf	FLP|cleft lip-alveolus-palate syndrome|alveolar cleft lip and palate|cleft lip and palate											ICD9:749.25|ICD10:Q37.2|ICD9:749.20|ICD10:Q37.5|ICD10:Q37.8|MedDRA:10009260|Orphanet:199306|SCTID:66948001|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.9|ICD10:Q37.0|ICD10:Q37.1																		owl:Class
MONDO:0014794	biolink:NamedThing	Meier-Gorlin syndrome 6	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.	mondoexuq1wtf	MGORS6|Meier-GORLIN syndrome 6|GMNN Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in GMNN|Meier-Gorlin syndrome 6|Meier-Gorlin syndrome type 6											DOID:0080517|UMLS:C4225188|OMIM:616835																		owl:Class
MONDO:0000346	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type		mondoexuq1wtf	Balkan hemorrhagic fever											DOID:0050522																		owl:Class
MONDO:0005784	biolink:NamedThing	hantavirus hemorrhagic fever with renal syndrome	A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.	mondoexuq1wtf	hemorrhagic fever with renal syndrome|hemorrhagic nephrosonephritis|Puumala virus nephropathy|hemorrhagic fever, Russian|HFRS											SCTID:102455002|ICD10:A98.5|DOID:11266|NCIT:C84753|ICD9:078.6|EFO:0007299																		owl:Class
MONDO:0013705	biolink:NamedThing	intellectual disability, autosomal recessive 19		mondoexuq1wtf	MRT19|intellectual disability, autosomal recessive 19|mental retardation, autosomal recessive 19											OMIM:614343|UMLS:C3280541																		owl:Class
MONDO:0003093	biolink:NamedThing	mucoepidermoid esophageal carcinoma	A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)	mondoexuq1wtf	mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma											UMLS:C1333461|DOID:4686|NCIT:C5343																		owl:Class
MONDO:0003036	biolink:NamedThing	mucoepidermoid carcinoma	A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.	mondoexuq1wtf	mucoepidermoid carcinoma|MUCC|MEC|mucoepidermoid tumors|mucoepidermoid tumor|tumor, mucoepidermoid|tumors, mucoepidermoid|mucoepidermoid carcinoma (morphologic abnormality)					Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes						ICDO:8430/3|GARD:0010671|ONCOTREE:MUCC|UMLS:C0206694|EFO:1001049|DOID:4531|ICDO:8430/1|MESH:D018298|NCIT:C3772|MESH:D018277														https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma				owl:Class
MONDO:0024644	biolink:NamedThing	myocardial ischemia	A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).	mondoexuq1wtf	ischemia, myocardial|myocardium ischemic disease|myocardial Ischemias|ischemias, myocardial|heart diseases, ischemic|heart disease, ischemic|IHD|ischemic disease of myocardium|diseases, ischemic heart|ischemic heart diseases|ischemic heart disease|disease, ischemic heart											ICD10:I20.I25|UMLS:C0151744|EFO:1001375|MESH:D017202|NCIT:C50625|SCTID:414545008																		owl:Class
MONDO:0003663	biolink:NamedThing	uterine ligament endometrioid adenocarcinoma	A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.	mondoexuq1wtf	uterine ligament endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine ligament											DOID:5829|UMLS:C1519868|NCIT:C40138																		owl:Class
MONDO:0002741	biolink:NamedThing	uterine ligament adenocarcinoma	A rare adenocarcinoma that arises from the uterine ligament.	mondoexuq1wtf	uterine ligament adenocarcinoma											DOID:3700|NCIT:C40135|UMLS:C1519866																		owl:Class
MONDO:0018001	biolink:NamedThing	inverse Klippel-Trenaunay syndrome		mondoexuq1wtf	cutaneous hemangioma with muscle or bone atrophy|inverse Klippel-Trénaunay syndrome											Orphanet:329324|ICD10:Q87.2|UMLS:CN204209																		owl:Class
MONDO:0044641	biolink:NamedThing	9q33.3q34.11 microdeletion syndrome		mondoexuq1wtf	Del(9)(q33.3q34.11)|9q33.3-q34.11 microdeletion syndrome|monosomy 9q33.3q34.11|monosomy 9q33.3-q34.11|deletion 9q33.3q34.11											Orphanet:495818																		owl:Class
MONDO:0007686	biolink:NamedThing	gray platelet syndrome	Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.	mondoexuq1wtf	marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|bleeding disorder, Platelet-type, 4|grey platelet syndrome|Alpha storage pool deficiency|BDPLT4|GPS|gray platelet syndrome|platelet alpha-granule deficiency|platelet-type bleeding disorder 4											UMLS:C0272302|GARD:0002562|ICD10:D69.1|SCTID:51720005|NCIT:C84741|DOID:0111044|OMIM:139090|UMLS:CN205641|UMLS:C2717750|MESH:D055652|Orphanet:721														https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome				owl:Class
MONDO:0002030	biolink:NamedThing	chronic cervicitis	Chronic inflammation of the cervix.	mondoexuq1wtf	chronic cervicitis (disease)|cervicitis (disease), chronic											UMLS:C0269062|DOID:1513|NCIT:C27057|SCTID:56728002																		owl:Class
MONDO:0014217	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 5	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.	mondoexuq1wtf	hereditary hemorrhagic telangiectasia caused by mutation in GDF2|GDF2 hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 5|HHT5											OMIM:615506|UMLS:C3809710																		owl:Class
MONDO:0020368	biolink:NamedThing	Axenfeld anomaly	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies.	mondoexuq1wtf												ICD9:743.44|Orphanet:98978|MedDRA:10058653|ICD10:Q15.0|SCTID:204152008																		owl:Class
MONDO:0020218	biolink:NamedThing	goniodysgenesis		mondoexuq1wtf												Orphanet:98633|SCTID:251730004																		owl:Class
MONDO:0030872	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 8		mondoexuq1wtf	frontotemporal dementia and/or amyotrophic lateral sclerosis 8|FTDALS8											OMIM:619132																		owl:Class
MONDO:0030923	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:105500																		owl:Class
MONDO:0002047	biolink:NamedThing	pulmonary systemic sclerosis		mondoexuq1wtf	lung involvement in systemic sclerosis|scleroderma lung disease|lung disease with systemic sclerosis|scleroderma of lung											DOID:1578|COHD:255304|ICD10:M34.81|SCTID:196133001|ICD9:517.2|UMLS:C0339904																		owl:Class
MONDO:0007985	biolink:NamedThing	metatarsus varus, type 1		mondoexuq1wtf	metatarsus varus, type I											OMIM:156520|MESH:C563585|UMLS:C1834968																		owl:Class
MONDO:0032806	biolink:NamedThing	trichothiodystrophy 7, nonphotosensitive		mondoexuq1wtf	TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE|TTD7											OMIM:618546																		owl:Class
MONDO:0100310	biolink:NamedThing	hereditary cerebellar ataxia	Cerebellar ataxia that is transmitted from parent to child.	mondoexuq1wtf	cerebellar hereditary ataxia|hereditary cerebellar ataxia							http://orcid.org/0000-0001-5208-3432				NCIT:C140268																		owl:Class
MONDO:0004339	biolink:NamedThing	tuberculum sellae meningioma	A meningioma that affects the tuberculum sellae.	mondoexuq1wtf	meningioma of tuberculum sellae|meningioma of the tuberculum sellae|sella turcica neoplasm of tuberculum sellae|tuberculum sellae sella turcica neoplasm											DOID:7713|UMLS:C1336829|NCIT:C5284																		owl:Class
MONDO:0012978	biolink:NamedThing	primary ciliary dyskinesia 11	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.	mondoexuq1wtf	RSPH4A primary ciliary dyskinesia|primary ciliary dyskinesia type 11|primary ciliary dyskinesia 11 without situs inversus|ciliary dyskinesia, primary, 11, without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH4A|ciliary dyskinesia, primary, type 11|CILD11|ciliary dyskinesia, primary, 11											OMIM:612649|DOID:0110602|ICD10:Q34.8|UMLS:C2675229|MESH:C567212																		owl:Class
MONDO:0019681	biolink:NamedThing	juvenile sialidosis type 2		mondoexuq1wtf	dysmorphic sialidosis, juvenile form											SCTID:111383007|Orphanet:93399|UMLS:C0268229|UMLS:CN206605|ICD10:E77.1																		owl:Class
MONDO:0009738	biolink:NamedThing	sialidosis type 2	Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.	mondoexuq1wtf	lipomucopolysaccharidosis|sialidosis type II|Neu deficiency|nephrosialidosis|infantile dysmorphic sialidosis|dysmorphic sialidosis|NEU1 sialidosis|sialidosis, type 2|sialidosis|mucolipidosis type I|neuraminidase deficiency|myoclonus--cherry Red spot syndrome|ML 1|cherry Red spot--myoclonus syndrome|sialidase deficiency|glycoproteinosis|NEU 1 deficiency|dysmorphic sialidosis with renal involvement|mucolipidosis I|mucolipidosis 1|neuraminidase 1 deficiency|Neu1 deficiency|sialidosis, type II|Neug deficiency|ML1|sialidosis caused by mutation in NEU1|glycoprotein neuraminidase deficiency|mucolipidosis type 1|sialidosis, type 1					See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227						GARD:0007183|Orphanet:87876|OMIM:256550|UMLS:C0268232|SCTID:81896006|UMLS:CN206285|NCIT:C125596|SCTID:52186006|ICD10:E77.1|OMIM:256150|DOID:3343|MESH:C562606|UMLS:C3888317																		owl:Class
MONDO:0000254	biolink:NamedThing	cutaneous mycosis	A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.	mondoexuq1wtf												DOID:0050134|SCTID:14560005																		owl:Class
MONDO:0022208	biolink:NamedThing	crystal arthropathy		mondoexuq1wtf	crystalline arthritis|Crystal Arthritides|crystal-related arthropathy and periarthropathy|Crystalline Arthritis|Arthritides, Crystal|Crystal arthropathy|Crystal Arthropathy|Crystalline Arthritides|Crystal-related arthropathy and periarthropathy|Crystalline Arthropathies|Crystal-induced arthritis AND/OR synovitis|crystal arthropathy|Arthritis, Crystalline|Arthropathy, Crystal|Crystal Arthritis|Arthritis, Crystal|Crystalline Arthropathy|Arthropathies, Crystal|Crystalline arthritis|Arthropathy, Crystalline|Crystal Arthropathies|Arthropathies, Crystalline|Arthritides, Crystalline|crystal-induced arthritis and/or synovitis											ICD9:712|ICD9:712.98|UMLS:C0152087|GARD:0012802|MEDGEN:508879|ICD9:712.90|ICD9:712.88|SCTID:18834007|ICD9:712.80																		owl:Class
MONDO:0019840	biolink:NamedThing	acropectororenal dysplasia	Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	mondoexuq1wtf	acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys											ICD10:Q87.8|SCTID:720413004|GARD:0000511|Orphanet:956														https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect				owl:Class
MONDO:0003650	biolink:NamedThing	mixed hepatoblastoma	A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.	mondoexuq1wtf	mixed epithelial and mesenchymal hepatoblastoma											ICDO:8970/3|DOID:5789|NCIT:C7097|UMLS:C1334784																		owl:Class
MONDO:0018666	biolink:NamedThing	hepatoblastoma	Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.	mondoexuq1wtf	hepatoblastoma|HBL|pediatric embryonal hepatoma|hepatoblastoma, malignant|pediatric hepatoblastoma											GARD:0002657|DOID:687|MedDRA:10062001|EFO:1000292|MESH:D018197|ONCOTREE:LIHB|ICD10:C22.2|ICDO:8970/3|Orphanet:449|NCIT:C3728|UMLS:C0206624																		owl:Class
MONDO:0021457	biolink:NamedThing	benign neoplasm of pleura	A benign neoplasm that involves the pleura.	mondoexuq1wtf	benign pleural tumor|benign tumor of pleura|benign tumor of the pleura|benign neoplasm of the pleura|benign pleural neoplasm|pleura benign neoplasm											SCTID:92298003|NCIT:C3603|ICD9:212.4|UMLS:C0153955																		owl:Class
MONDO:0021065	biolink:NamedThing	pleural neoplasm	A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.	mondoexuq1wtf	pleura tumor|pleura neoplasm|neoplasm of pleural cavity|tumor of the pleura|neoplasm of pleura|tumor of pleura|pleural cavity neoplasm (disease)|pleural tumor|neoplasm of the pleura|pleura neoplasm (disease)|pleural cavity tumor|pleural neoplasm											NCIT:C3332|SCTID:126719004|ONCOTREE:PLEURA|UMLS:C0032229																		owl:Class
MONDO:0020773	biolink:NamedThing	cerebrospinal fluid rhinorrhea	Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)	mondoexuq1wtf	Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Cerebrospinal Rhinorrhea|Rhinorrhea, CSF|Rhinorrheas, CSF|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|Cerebrospinal fluid rhinorrhea|Cerebrospinal rhinorrhea|CSF Rhinorrhea|Traumatic Cerebrospinal Fluid Rhinorrhea|Spontaneous Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Traumatic|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, Cerebrospinal Fluid|Traumatic Rhinorrhea, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Rhinorrheas, Cerebrospinal Fluid|CSF Rhinorrheas|Rhinorrhea, Spontaneous Cerebrospinal Fluid|CSF rhinorrhoea|cerebrospinal fluid rhinorrhea|Spontaneous Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|post Traumatic Rhinorrhea, Cerebrospinal Fluid|cerebrospinal rhinorrhea|post Traumatic Cerebrospinal Fluid Rhinorrhea|post-Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Rhinorrheas|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal|Cerebrospinal Fluid Rhinorrheas|Cerebrospinal Fluid Rhinorrhea|csf - cerebrospinal rhinorrhea|Rhinorrhea, Traumatic Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|Rhinorrheas, Cerebrospinal|Cerebrospinal Fluid Rhinorrhea, post Traumatic|Cerebrospinal fluid rhinorrhoea											MESH:D002559|UMLS:C0007815|GTR:AN1353832|GTR:AN1355639|NCIT:C84627|ICD9:349.81|SCTID:85638002|HP:0030998																		owl:Class
MONDO:0043327	biolink:NamedThing	cerebrospinal fluid leak	Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).	mondoexuq1wtf	csf - cerebrospinal fluid leak|cerebrospinal fluid leakage, traumatic|cerebrospinal fluid drainage|fluid leak, cerebrospinal|leakage, cerebrospinal fluid|cerebrospinal fluid drainage, post traumatic|spinal CSF leak|cerebrospinal fluid drainage, traumatic|CSF otorrhea|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid leak, spontaneous|drainage, cerebrospinal fluid|cerebrospinal fluid leakage|cerebrospinal fluid drainage, post-traumatic|fluid Leakages, cerebrospinal|cerebrospinal fluid leakage, post traumatic|leak, cerebrospinal fluid|fluid Leaks, cerebrospinal|cerebrospinal fluid leakage, post-traumatic|cerebrospinal fluid Leakages|Leakages, cerebrospinal fluid|CSF leak|cerebrospinal fluid drainage, spontaneous|fluid leakage, cerebrospinal|cerebrospinal fluid leak|spinal cerebrospinal fluid leak, post-traumatic|spinal cerebrospinal fluid leak, spontaneous|spinal cerebrospinal fluid leak, traumatic|cerebrospinal fluid leakage, spontaneous|Leaks, cerebrospinal fluid|fluid Drainages, cerebrospinal|spinal cerebrospinal fluid leak, post traumatic|Drainages, cerebrospinal fluid|cerebrospinal fluid Drainages|CSF rhinorrhea|cerebrospinal fluid Leaks|cerebrospinal fluid leak, traumatic|spinal cerebrospinal fluid leak|fluid drainage, cerebrospinal|cerebrospinal fluid leak, post-traumatic											SCTID:230744007|GARD:0010166|MESH:D065634																		owl:Class
MONDO:0005557	biolink:NamedThing	calcium metabolic disease	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.	mondoexuq1wtf	calcium metabolism disorder|calcium metabolism disease|disorder of calcium metabolism					Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease.						MESH:D002128|EFO:0005769|ICD9:275.4|ICD10:E83.5|ICD9:275.49|SCTID_2010_1_31:267442002|SCTID_2010_1_31:190874007|DOID:10575|SCTID_2010_1_31:190863003|ICD10:E83.50|UMLS:C0006705|SCTID:71638002|ICD9:275.40|SCTID_2010_1_31:71638002																		owl:Class
MONDO:0006090	biolink:NamedThing	appendix hyperplastic polyp	A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.	mondoexuq1wtf	appendix metaplastic polyp|vermiform appendix hyperplastic polyp											NCIT:C96416|UMLS:C3272761|EFO:1000091																		owl:Class
MONDO:0056798	biolink:NamedThing	disorder of appendix	A disease or disorder that involves the vermiform appendix.	mondoexuq1wtf	disease or disorder of vermiform appendix|disease of appendix|disease of vermiform appendix|disorder of appendix|disorder of vermiform appendix|vermiform appendix disease|appendix disease|appendiceal disease|vermiform appendix disease or disorder											UMLS:C0267613|DOID:60000|SCTID:18526009|ICD9:543.9																		owl:Class
MONDO:0010046	biolink:NamedThing	hereditary spastic paraplegia 23	Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 23|SPG 23|spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|spastic paraplegia with pigmentary abnormalities|spastic paraparesis, vitiligo, premature graying, characteristic facies|DSTYK autosomal recessive complex spastic paraplegia|spastic paraplegia 23|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|SPG23|spastic paraplegia and pigmentary abnormalities|hereditary spastic paraplegia type 23|spastic paraplegia vitiligo premature graying and characteristic facies|Lison syndrome											SCTID:726608002|DOID:0110774|MESH:C536859|ICD10:G11.4|OMIM:270750|Orphanet:101003|GARD:0000336|UMLS:C0796019																		owl:Class
MONDO:0015252	biolink:NamedThing	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome		mondoexuq1wtf	BD syndrome|intellectual disability-athetosis-microphthalmia syndrome|intellectual disability - athetosis - microphthalmia|severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome											GARD:0003482|UMLS:CN237422|Orphanet:1236														https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia				owl:Class
MONDO:0036781	biolink:NamedThing	benign axillary neoplasm	A non-metastasizing neoplasm that arises from the structures of the axilla.	mondoexuq1wtf	benign axillary neoplasm|axillary neoplasm, benign											NCIT:C35750|UMLS:C0684828																		owl:Class
MONDO:0011679	biolink:NamedThing	craniosynostosis syndrome, autosomal recessive	Autosomal recessive form of craniosynostosis.	mondoexuq1wtf	craniosynostosis syndrome, autosomal recessive|autosomal recessive craniosynostosis|craniosynostosis, autosomal recessive											MESH:C564700|UMLS:C1847865|OMIM:606529																		owl:Class
MONDO:0043099	biolink:NamedThing	Hordnes Engebretsen Knudtson syndrome		mondoexuq1wtf	acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability											MESH:C536067|GARD:0002736|UMLS:C2931100																		owl:Class
MONDO:0003985	biolink:NamedThing	chest wall lymphoma	A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.	mondoexuq1wtf	primary chest wall lymphoma|chest wall cancer|lymphoma of chest wall|lymphoma of the chest wall|chest wall lymphoma											NCIT:C6712|DOID:6758|UMLS:C1332933																		owl:Class
MONDO:0011029	biolink:NamedThing	myeloid tumor suppressor		mondoexuq1wtf	myeloid tumor suppressor|myeloid leukemia-related locus											OMIM:601308																		owl:Class
MONDO:0012841	biolink:NamedThing	inflammatory bowel disease 18	An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.	mondoexuq1wtf	inflammatory bowel disease type 18|inflammatory bowel disease 18|IBD18											OMIM:612262|DOID:0110888|MESH:C567377|UMLS:C2677090																		owl:Class
MONDO:0007998	biolink:NamedThing	microspherophakia-metaphyseal dysplasia syndrome	Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	mondoexuq1wtf	dominantly inherited bone dysplasia with severe eye involvement|microspherophakia-metaphyseal dysplasia|Verloes Van Maldergem Marneffe syndrome|Verloes-Van Maldergem-de Marneffe syndrome											GARD:0005481|Orphanet:2551|UMLS:C1834880|ICD10:Q87.5|MESH:C536540|OMIM:157151																		owl:Class
MONDO:0003107	biolink:NamedThing	infratentorial cancer	Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.	mondoexuq1wtf	infratentorial neoplasms, malignant|malignant infratentorial neoplasm|malignant infratentorial tumors|malignant infratentorial tumor|brain neoplasm, infratentorial											UMLS:C0751593|MESH:D015192|ICD10:C71.7|DOID:4706|NCIT:C4966																		owl:Class
MONDO:0004620	biolink:NamedThing	Hodgkin's lymphoma, lymphocytic depletion	A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)	mondoexuq1wtf	adult lymphocyte-depleted classical Hodgkin lymphoma|adult LDHD|adult lymphocyte depletion Hodgkin's disease|Adult lymphocyte-depleted Classic Hodgkin lymphoma|lymphocyte-depleted classical Hodgkin lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|adult lymphocyte depleted Hodgkin lymphoma|classic Hodgkin lymphoma, lymphocyte-depleted type|adult HDLD|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites|Hodgkin's disease, lymphocytic depletion|Hodgkin's lymphocytic depletion of unspecified site|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin's lymphoma											Orphanet:98846|ICD10:C81.3|DOID:8628|ONCOTREE:LDCHL|NCIT:C9125|SCTID:118610003|COHD:4041798|ICD9:201.7																		owl:Class
MONDO:0009391	biolink:NamedThing	hypermetabolism due to defect in mitochondria		mondoexuq1wtf	hypermetabolism due to defect in mitochondria											MESH:C565498|OMIM:238800|UMLS:C1855926																		owl:Class
MONDO:0011480	biolink:NamedThing	autosomal dominant nonsyndromic deafness 20	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.	mondoexuq1wtf	DFNA20|autosomal dominant deafness 20|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|ACTG1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 20|Dfna26|DFNA26|deafness, autosomal dominant type 20|deafness, autosomal dominant 20											OMIM:604717|ICD10:H90.3|MESH:C565754|DOID:0110550|UMLS:C1858172																		owl:Class
MONDO:0044977	biolink:NamedThing	disease of receptor activity		mondoexuq1wtf																														owl:Class
MONDO:0033669	biolink:NamedThing	Noonan syndrome 13		mondoexuq1wtf	NS13											OMIM:619087																		owl:Class
MONDO:0018378	biolink:NamedThing	osteonecrosis of the jaw	An area of necrotic bone in the mandible or maxilla.	mondoexuq1wtf	osteonecrosis of jaw|jaw osteonecrosis|ONJ											NCIT:C63924|UMLS:C2711248|ICD9:733.45|SCTID:441809006|Orphanet:399293|ICD10:K10.2																		owl:Class
MONDO:0019573	biolink:NamedThing	autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).	mondoexuq1wtf	ARCL2|cutis laxa with joint laxity and developmental delay											ICD10:Q82.8|Orphanet:90350																		owl:Class
MONDO:0002640	biolink:NamedThing	optic nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.	mondoexuq1wtf	neoplasm of optic nerve|second cranial nerve neoplasms|tumor of optic nerve|second cranial nerve neoplasm|neoplasm of the optic nerve|tumor of the second cranial nerve|second cranial nerve tumor|neoplasm of cranial nerve II|optic nerve neoplasms|cranial nerve II neoplasm|cranial nerve II neoplasms|cranial nerve II tumor|neoplasms, optic nerve|neoplasm of second cranial nerve|tumor of the optic nerve|optic nerve tumor|neoplasms, second cranial nerve|tumor of second cranial nerve|cranial nerve II neoplasm (disease)|neoplasm of the second cranial nerve|optic nerve neoplasm|tumor of cranial nerve II|tumour of optic nerve											DOID:3419|NCIT:C4801|ICD9:239.7|MESH:D019574|UMLS:C0524802|EFO:1001073|SCTID:395505000																		owl:Class
MONDO:0022428	biolink:NamedThing	aluminosis	Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.	mondoexuq1wtf	aluminosis of lung|pulmonary aluminosis|aluminium lung											SCTID:90623003|UMLS:C0311227|GARD:0008357														https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung				owl:Class
MONDO:0017225	biolink:NamedThing	null syndrome	The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.	mondoexuq1wtf	Pelizaeus-Merzbacher disease, null syndrome|PLP1 null syndrome											ICD10:E75.2|Orphanet:280234|UMLS:CN202707																		owl:Class
MONDO:0004214	biolink:NamedThing	ovarian endometrioid cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.	mondoexuq1wtf	ovarian endometrioid cystadenofibroma											UMLS:C1335158|DOID:7411|NCIT:C27288																		owl:Class
MONDO:0012537	biolink:NamedThing	split-hand/foot malformation with long bone deficiency 2		mondoexuq1wtf	split-hand/foot malformation with long bone deficiency 2|SHFLD2											UMLS:C1853156|OMIM:610685|MESH:C565199																		owl:Class
MONDO:0010750	biolink:NamedThing	ulnar hypoplasia-split foot syndrome	Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.	mondoexuq1wtf	severe ulnar aplasia and lobster claw feet|familial ulnar aplasia and lobster claw syndrome|complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia lobster claw deformity of feet|Van den Berghe-Dequecker syndrome|ulnar hypoplasia with lobster-claw deformity of feet|ulnar hypoplasia-lobster-claw deformity of feet syndrome											ICD10:Q73.8|MESH:C536936|Orphanet:1122|GARD:0005400|UMLS:C1839123|OMIM:314360																		owl:Class
MONDO:0011822	biolink:NamedThing	Bartter disease type 3	Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	mondoexuq1wtf	Bartter syndrome type 3|Bartter syndrome classic|adult Bartter syndrome|Bartter syndrome type III|classic Bartter syndrome|Bartter syndrome, type 3|BARTS3|Bartter syndrome, classic|Bartter syndrome, type 3, with hypocalciuria											ICD10:E26.8|GARD:0009659|UMLS:C1846343|OMIM:607364|SCTID:700111000|Orphanet:93605|DOID:0110144																		owl:Class
MONDO:0015231	biolink:NamedThing	Bartter syndrome	Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	mondoexuq1wtf	Bartter disease|salt-losing tubular disorder, Henle's loop type|aldosteronism with hyperplasia of the adrenal cortex|Bartter's syndrome|Potassium wasting|salt-wasting tubulopathy, Henle's loop type|hypokalemic alkalosis with hypercalciuria|renal tubular normotensive hypokalemic alkalosis with hypercalciuria|hypokalemic alkalosis											MedDRA:10050839|Orphanet:112|MESH:D001477|UMLS:C0085570|OMIMPS:601678|UMLS:C0004775|SCTID:707742001|DOID:445|COHD:45769152|ICD9:255.13|ICD10:E26.81|NCIT:C34412|GARD:0005893|ICD10:E26.8														https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome				owl:Class
MONDO:0004937	biolink:NamedThing	hypervitaminosis D		mondoexuq1wtf	hypervitaminosis type D											ICD9:278.4|ICD10:E67.3|DOID:9971|SCTID:27712000|UMLS:C1442839|COHD:435522																		owl:Class
MONDO:0014224	biolink:NamedThing	developmental delay with autism spectrum disorder and gait instability	Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	mondoexuq1wtf	intellectual disability, autosomal recessive type 38|developmental delay with ASD and gait instability|intellectual disability, autosomal recessive 38|mental retardation, autosomal recessive 38|mental retardation, autosomal recessive type 38|MRT38											UMLS:C3809753|OMIM:615516|Orphanet:329195																		owl:Class
MONDO:0001413	biolink:NamedThing	ulceroglandular tularemia	A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.	mondoexuq1wtf												ICD9:021.0|SCTID:37722001|UMLS:C0152941|ICD10:A21.0|DOID:11990																		owl:Class
MONDO:0009627	biolink:NamedThing	Galloway-Mowat syndrome	Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.	mondoexuq1wtf	microcephaly, hiatal hernia, and nephrotic syndrome|nephrosis-microcephaly syndrome|microcephaly, hiatal hernia and nephrotic syndrome|hiatal hernia-microcephaly-nephrosis, Galloway type|microcephaly-hiatus hernia-nephrotic syndrome|nephrosis neuronal dysmigration syndrome|nephrosis-neuronal dysmigration syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly nephrosis syndrome|Galloway-Mowat syndrome|GAMOS|Galloway Mowat syndrome|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities											OMIMPS:251300|GARD:0000065|SCTID:721297008|Orphanet:2065|NCIT:C132195|DOID:0080694|ICD10:Q04.3|GARD:65|MESH:C537548|UMLS:C0795949																		owl:Class
MONDO:0002357	biolink:NamedThing	hepatic flexure cancer	A malignant neoplasm involving the hepatic flexure of colon.	mondoexuq1wtf	Ca hepatic flexure - colon|malignant neoplasm of hepatic flexure of colon|cancer of hepatic flexure of colon|malignant hepatic flexure of colon neoplasm|malignant tumor of hepatic flexure|hepatic flexure of colon cancer|malignant neoplasm of hepatic flexure											ICD10:C18.3|ICD9:153.0|DOID:260|SCTID:363407001|UMLS:C0153433																		owl:Class
MONDO:0002238	biolink:NamedThing	ascending colon cancer	A malignant neoplasm involving the ascending colon.	mondoexuq1wtf	malignant neoplasm of ascending colon|Ca ascending colon|ascending colon cancer|malignant neoplasm of right colon|malignant ascending colon neoplasm|cancer of ascending colon|malignant tumor of ascending colon											ICD9:153.6|UMLS:C0153439|ICD10:C18.2|SCTID:363412000|DOID:218																		owl:Class
MONDO:0011868	biolink:NamedThing	lethal congenital contracture syndrome 2	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	mondoexuq1wtf	ERBB3 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 2|lethal congenital contracture syndrome caused by mutation in ERBB3|lethal congenital contracture syndrome 2|LCCS2|multiple contracture syndrome, Israeli-Bedouin type|multiple contracture syndrome, Israeli Bedouin type a|multiple contracture syndrome, Israeli Bedouin type											GARD:0009177|DOID:0060560|OMIM:607598|UMLS:C4275145|MESH:C564369|Orphanet:137776|UMLS:C1843478|SCTID:715419004|ICD10:Q68.8														https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2				owl:Class
MONDO:0021702	biolink:NamedThing	alcohol amnestic disorder	A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)	mondoexuq1wtf	alcohol-induced Dysmnesic psychosis|syndrome, alcohol amnestic|syndromes, alcohol-induced Dysmnesic|alcohol amnestic disorders|alcohol-induced amnestic psychosis|alcohol-induced persisting amnestic disorder|psychoses, alcohol-induced amnestic|alcoholic Korsakoff syndromes|amnestic psychosis, alcohol induced|alcohol-induced Dysmnesic psychoses|amnestic syndrome, alcohol|psychoses, alcohol-induced Dysmnesic|alcohol-induced Dysmnesic syndrome|alcohol induced Dysmnesic psychosis|alcohol induced amnestic syndrome|alcoholic Korsakoff syndrome|Dysmnesic psychosis, alcohol-induced|Dysmnesic psychoses, alcohol-induced|syndrome, alcohol-induced amnestic|amnestic syndrome, alcohol-induced|amnestic psychosis, alcohol-induced|alcohol induced Dysmnesic syndrome|syndrome, alcohol-induced Korsakoff|Korsakoff syndromes, alcoholic|amnestic psychoses, alcohol-induced|alcohol-induced amnestic syndromes|syndrome, alcoholic Korsakoff|Dysmnesic syndromes, alcohol-induced|syndromes, alcoholic Korsakoff|psychosis, alcohol-induced Dysmnesic|alcohol amnestic syndromes|syndrome, alcohol-induced Dysmnesic|alcohol-induced Korsakoff syndrome|amnestic disorders, alcohol|psychosis, alcohol-induced amnestic|alcohol-induced Dysmnesic syndromes|alcohol-induced Korsakoff syndromes|alcohol-induced amnestic syndrome|syndromes, alcohol-induced Korsakoff|Dysmnesic syndrome, alcohol-induced|Korsakoff syndrome, alcohol-induced|syndromes, alcohol amnestic|alcohol induced persisting amnestic disorder|amnestic syndromes, alcohol|amnestic disorder, alcohol|syndromes, alcohol-induced amnestic|amnestic syndromes, alcohol-induced|alcohol-induced amnestic psychoses|alcohol amnestic syndrome|alcohol induced amnestic psychosis|Korsakoff syndrome, alcoholic|Korsakoff syndromes, alcohol-induced|alcohol induced Korsakoff syndrome											MESH:D000425|SCTID:73097000|EFO:1001759																		owl:Class
MONDO:0001152	biolink:NamedThing	amnestic disorder	Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.	mondoexuq1wtf	Korsakoff's psychosis or syndrome|amnestic syndrome|amnesic syndrome|amnesia											EFO:1001454|SCTID:3298001|ICD9:294.0|ICD10:R41.3|DOID:10914|COHD:372608																		owl:Class
MONDO:0019735	biolink:NamedThing	polymyalgia rheumatica	A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.	mondoexuq1wtf	polymyalgia rheumatica|rhizomelic pseudopolyarthritis											ICD9:725|UMLS:C0032533|MedDRA:10068240|Orphanet:93569|SCTID:65323003|NCIT:C85018|COHD:255348|DOID:853|ICD10:M35.3|MESH:D011111|UMLS:C1527406|GARD:0004704																		owl:Class
MONDO:0003913	biolink:NamedThing	choroid mixed cell melanoma	A mixed cell uveal melanoma that involves the optic choroid.	mondoexuq1wtf	choroid mixed cell melanoma|optic choroid mixed cell uveal melanoma|mixed cell uveal melanoma of optic choroid											DOID:6525|NCIT:C35782|UMLS:C1333025																		owl:Class
MONDO:0010173	biolink:NamedThing	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.	mondoexuq1wtf	genital renal ear syndrome|congenital absence of uterus and vagina|Von Mayer-Rokitansky-Kuster anomaly|Rokitansky syndrome|congenital absence of the uterus and vagina (CAUV)|Mrk anomaly|Mullerian aplasia/dysgenesis|Mullerian dysgenesis|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mayer-Rokitansky-Küster-Hauser syndrome type 1|urogenital adysplasia|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)|MRKH syndrome type 1|Rokitansky sequence|Müllerian agenesis|MRKH syndrome|Mayer-Rokitansky-KUSTER-Hauser syndrome|MRKH anomaly											ICD10:Q51.8|SCTID:8793008|ICD9:752.49|Orphanet:247775|OMIM:277000|GARD:0007100														https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia				owl:Class
MONDO:0017771	biolink:NamedThing	Mayer-Rokitansky-Kuster-Hauser syndrome	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	mondoexuq1wtf	MRKH|Mayer-Rokitansky-Küster-Hauser syndrome|MRKH syndrome|Rokitansky syndrome|Mullerian aplasia/dysgenesis											ICD10:Q51.8|MedDRA:10065148|Orphanet:3109|NCIT:C124853																		owl:Class
MONDO:0009412	biolink:NamedThing	scurvy	Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.	mondoexuq1wtf	deficiency of vitamin C|hypoascorbemia|scorbutus|L-gulonolactone oxidase pseudogene|vitamin C deficiency|Gulo, nonfunctional|vitamin C, inability to synthesize|L-gulonolactone oxidase, nonfunctional|scurvy					An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic.						DOID:13724|ICD10:E54|GARD:0010406|UMLS:C0036474|EFO:1001169|MedDRA:10039768|NCIT:C35010|MESH:D012614|OMIM:240400														https://rarediseases.info.nih.gov/diseases/10406/scurvy				owl:Class
MONDO:0008740	biolink:NamedThing	agnathia-otocephaly complex	Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	mondoexuq1wtf	agnathia-otocephaly complex|agnathia-holoprosencephaly|AGOTC|agnathia-holoprosencephaly-situs inversus syndrome|dysgnathia complex agnathia-holoprosencephaly|Dysgnathia Complex agnathia-holoprosencephaly|otocephaly|holoprosencephaly-agnathia											ICD9:759.89|GARD:0009126|ICD10:Q18.2|NCIT:C124568|Orphanet:990|SCTID:48180002|ICD10:Q87.8|UMLS:CN207252|DOID:0060341|OMIM:202650																		owl:Class
MONDO:0010868	biolink:NamedThing	rippling muscle disease 1		mondoexuq1wtf	RMD1|rippling muscle disease 1|rippling muscle disease, 1											OMIM:600332|GARD:0009165|DOID:0070308																		owl:Class
MONDO:0020704	biolink:NamedThing	inherited rippling muscle disease	Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.	mondoexuq1wtf	RMD|rippling muscle disease											ICD10:G71.8|Orphanet:97238|GARD:0009164|MedDRA:10069417																		owl:Class
MONDO:0008085	biolink:NamedThing	neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance		mondoexuq1wtf	neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance											OMIM:162380|UMLS:C1834205|MESH:C563517																		owl:Class
MONDO:0015447	biolink:NamedThing	differentiated thyroid carcinoma	Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.	mondoexuq1wtf	well differentiated thyroid carcinoma|papillary or follicular thyroid carcinoma|differentiated thyroid carcinoma|well differentiated thyroid gland carcinoma|thyroid gland well differentiated carcinoma|differentiated thyroid gland carcinoma|thyroid gland differentiated carcinoma|differentiated thyroid gland cancer|differentiated thyroid cancer|well-differentiated thyroid carcinoma|well-differentiated thyroid cancer											ONCOTREE:WDTC|EFO:1002017|ICD10:C73|Orphanet:146|NCIT:C7153|DOID:0080525|UMLS:C1337013																		owl:Class
MONDO:0009007	biolink:NamedThing	Jalili syndrome	Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).	mondoexuq1wtf	cone rod dystrophy-amelogenesis imperfecta syndrome|Jalili syndrome|cone-rod dystrophy and amelogenesis imperfecta|cone-rod dystrophy amelogenesis imperfecta|cone-rod dystrophy with amelogenesis imperfecta											ICD9:520.5|ICD10:H35.5|OMIM:217080|MESH:C000596385|SCTID:707608003|ICD9:362.75|UMLS:C3495589|Orphanet:1873|DOID:0111404|GARD:0001463|UMLS:CN200616														https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta				owl:Class
MONDO:0016179	biolink:NamedThing	acquired amyloid peripheral neuropathy		mondoexuq1wtf												Orphanet:209013																		owl:Class
MONDO:0004532	biolink:NamedThing	auditory system cancer	A malignant neoplasm involving the auditory system	mondoexuq1wtf	malignant auditory system neoplasm|auditory system cancer|cancer of auditory system|malignant neoplasm of auditory system											DOID:833																		owl:Class
MONDO:0034145	biolink:NamedThing	oculocerebrodental syndrome		mondoexuq1wtf	Cataracts, Early-Onset, With Skeletal and Dental Anomalies|oculoskeletodental syndrome|OCSKD											Orphanet:557003|OMIM:618440																		owl:Class
MONDO:0001890	biolink:NamedThing	pulp erosion	A tooth erosion, non-bacterial that involves the dental pulp.	mondoexuq1wtf	dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp											ICD9:521.33|DOID:14140																		owl:Class
MONDO:0002325	biolink:NamedThing	tooth erosion, non-bacterial	Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)	mondoexuq1wtf	generalized erosion|tooth erosion|localized erosion											SCTID:82212003|DOID:2498|MESH:D014077|ICD9:521.30|ICD9:521.3|UMLS:C0040436|ICD9:521.34|ICD9:521.35|ICD10:K03.2																		owl:Class
MONDO:0002014	biolink:NamedThing	autosomal recessive Ehlers-Danlos syndrome, vascular type	The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	mondoexuq1wtf	autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, recessive type 4|Ehlers-Danlos syndrome, vascular type, autosomal recessive											DOID:14759|UMLS:C0268340|SCTID:70610001																		owl:Class
MONDO:0017314	biolink:NamedThing	Ehlers-Danlos syndrome, vascular type	Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.	mondoexuq1wtf	EDS type 4|EDS4 (formerly)|Ehlers-Danlos syndrome type 4|Ehlers-Danlos syndrome, type IV|Ehlers Danlos syndrome, arterial type|Ehlers-Danlos syndrome type 4 (formerly)|EDS IV (formerly)|vascular EDS|vascular Ehlers-Danlos syndrome|Ehlers Danlos syndrome, ecchymotic type|vEDS|Ehlers-Danlos syndrome type IV|Ehlers-Danlos syndrome type IV (formerly)|EDS type 4 (formerly)|EDS IV|sack-Barabas syndrome|Ehlers Danlos syndrome, sack-Barabas type											NCIT:C125699|GARD:0002082|Orphanet:286|SCTID:17025000|ICD10:Q79.6																		owl:Class
MONDO:0012006	biolink:NamedThing	craniosynostosis with ocular abnormalities and hallucal defects		mondoexuq1wtf	craniosynostosis with ocular abnormalities and hallucal defects											UMLS:C1842316|MESH:C564263|OMIM:608279																		owl:Class
MONDO:0020351	biolink:NamedThing	Blake pouch cyst	Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.	mondoexuq1wtf												ICD10:Q03.1|Orphanet:98922																		owl:Class
MONDO:0020134	biolink:NamedThing	cystic malformation of the posterior fossa		mondoexuq1wtf												Orphanet:98520|ICD9:742.4|SCTID:35111000119109																		owl:Class
MONDO:0005961	biolink:NamedThing	sinusitis	An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.	mondoexuq1wtf												DOID:0050127|NCIT:C35024|MESH:D012852|EFO:0007486|UMLS:C0037199|ICD9:461.9|ICD10:J01|ICD10:J01.90|SCTID:36971009|ICD10:J01.9|ICD9:461																		owl:Class
MONDO:0021176	biolink:NamedThing	autoimmune hepatitis type 2	Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.	mondoexuq1wtf	autoimmune hepatitis type 2|type 2 AIH											UMLS:C4303163|SCTID:721712002|Orphanet:563581																		owl:Class
MONDO:0007947	biolink:NamedThing	Marfan syndrome	A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.	mondoexuq1wtf	Marfan's syndrome|MFS1|Marfan syndrome, type 1|Marfan syndrome type 1|Marfan syndrome|MFS											MESH:D008382|DOID:14323|SCTID:19346006|ICD10:Q87.40|OMIM:154700|UMLS:CN202883|NCIT:C34807|ICD9:759.82|GARD:0006975|MedDRA:10026829|Orphanet:558|Orphanet:284963|COHD:258540|ICD10:Q87.4|UMLS:C0024796								Contractural arachnodactyly						https://github.com/monarch-initiative/mondo/issues/3155|https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome				owl:Class
MONDO:0011896	biolink:NamedThing	Parkinson disease 11, autosomal dominant, susceptibility to	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene.	mondoexuq1wtf	PARK11|GIGYF2 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in GIGYF2|susceptibility to autosomal dominant Parkinson disease 11|Parkinson disease 11, autosomal dominant, susceptibility to											OMIM:607688|UMLS:C1843211|MESH:C564345																		owl:Class
MONDO:0018466	biolink:NamedThing	hereditary late onset Parkinson disease	Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).	mondoexuq1wtf	LOPD|autosomal dominant late-onset Parkinson disease|hereditary late-onset Parkinson disease|late-onset Parkinson disease|late onset Parkinson's disease|late onset Parkinson disease											ICD10:G20|Orphanet:411602|DOID:0060892|SCTID:716662004																		owl:Class
MONDO:0014054	biolink:NamedThing	lymphoproliferative syndrome 2	Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.	mondoexuq1wtf	lymphoproliferative syndrome 2|LPFS2|CD27 lymphoproliferative syndrome|lymphoproliferative syndrome type 2|lymphoproliferative syndrome caused by mutation in CD27											ICD10:D47.9|OMIM:615122|DOID:0060708|UMLS:C3554540																		owl:Class
MONDO:0016536	biolink:NamedThing	autosomal recessive lymphoproliferative disease	Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	mondoexuq1wtf	CD27 deficiency											ICD10:D47.9|Orphanet:238505																		owl:Class
MONDO:0006093	biolink:NamedThing	ascending colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	grade 1 neuroendocrine neoplasm of ascending colon|carcinoid tumor of the ascending colon|ascending colon neuroendocrine neoplasm G1|ascending colon carcinoid tumor|ascending colon neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of ascending colon|ascending colon neuroendocrine tumor G1|ascending colon NET G1|ascending colon carcinoid tumor (disease)											EFO:1000094|NCIT:C6427|UMLS:C1332340																		owl:Class
MONDO:0002197	biolink:NamedThing	minor vestibular glands adenoma	A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.	mondoexuq1wtf	minor vestibular gland adenoma|adenoma of minor vestibular glands											DOID:2075|UMLS:C1510791|NCIT:C40301																		owl:Class
MONDO:0020274	biolink:NamedThing	onycho-patellar syndrome with eye involvement		mondoexuq1wtf												Orphanet:98704|UMLS:CN207079																		owl:Class
MONDO:0032693	biolink:NamedThing	Galloway-Mowat syndrome 8		mondoexuq1wtf	GALLOWAY-MOWAT SYNDROME 8|GAMOS8											OMIM:618349																		owl:Class
MONDO:0019002	biolink:NamedThing	Lhermitte-Duclos disease	Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.	mondoexuq1wtf	dysplastic gangliocytoma of the cerebellum|dysplastic cerebellar gangliocytoma|LDD|dysplastic gangliocytoma of cerebellum											ICD10:Q04.8|ICDO:9493/0|NCIT:C8419|Orphanet:65285|UMLS:C0391826|GARD:0006901																		owl:Class
MONDO:0017213	biolink:NamedThing	postorgasmic illness syndrome	Postorgasmic illness syndrome (POIS) is a rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.	mondoexuq1wtf	POIS|post orgasmic sick syndrome											Orphanet:279947|UMLS:CN202682|GARD:0010809														https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome				owl:Class
MONDO:0002874	biolink:NamedThing	testicular pure germ cell tumor	A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.	mondoexuq1wtf	testicular Pure germ cell tumor											NCIT:C39915|UMLS:C1514608|DOID:4087																		owl:Class
MONDO:0001577	biolink:NamedThing	respiratory syncytial virus infectious disease	Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.	mondoexuq1wtf	infections, Human respiratory syncytial virus|Human respiratory syncytial virus infection|respiratory syncytial virus infection											DOID:1273|MESH:D018357|EFO:1001413|SCTID:55735004|NCIT:C3354|UMLS:C0035235																		owl:Class
MONDO:0024352	biolink:NamedThing	viral respiratory tract infection	A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.	mondoexuq1wtf	viral respiratory tract infection											NCIT:C27219|ICD9:519.8|SCTID:312133006																		owl:Class
MONDO:0100163	biolink:NamedThing	COVID-19–associated multisystem inflammatory syndrome in children	A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.	mondoexuq1wtf	pediatric inflammatory multisystem syndrome|pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|PMIS|COVID-19 -related pediatric inflammatory multisystem syndrome|PIMS|MIS-C|multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|COVID-19 associated multisystem inflammatory syndrome in children|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|SARS-CoV-2 Kawasaki-like syndrome|PIMS-TS|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|multisystem inflammatory syndrome in children associated with COVID-19|COVID-19 Kawasaki-like syndrome|pediatric multisystem inflammatory syndrome					The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome.		http://orcid.org/0000-0001-5208-3432				NCIT:C172127|DOID:0080711																		owl:Class
MONDO:0001204	biolink:NamedThing	esophagus sarcoma	A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.	mondoexuq1wtf	sarcoma of esophagus|sarcoma, esophagus|esophagus sarcoma|sarcoma of the esophagus|esophageal sarcoma											DOID:1114|NCIT:C5341|UMLS:C1333466																		owl:Class
MONDO:0024502	biolink:NamedThing	gallbladder neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	neuroendocrine neoplasm of gall bladder|gall bladder neuroendocrine tumor|gall bladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gallbladder neuroendocrine neoplasm|gall bladder NET											UMLS:C3273115|NCIT:C96917																		owl:Class
MONDO:0021253	biolink:NamedThing	gallbladder neoplasm	A neoplasm (disease) that involves the gall bladder.	mondoexuq1wtf	gallbladder tumor|tumor of gall bladder|gall bladder tumor|neoplasm of the gallbladder|gall bladder neoplasm|tumor of the gallbladder|neoplasm of gallbladder|neoplasm of gall bladder|gall bladder neoplasm (disease)|tumor of gallbladder											NCIT:C3048|UMLS:C0016978																		owl:Class
MONDO:0020157	biolink:NamedThing	syndromic palpebral coloboma		mondoexuq1wtf												Orphanet:98566|UMLS:CN227802																		owl:Class
MONDO:0008618	biolink:NamedThing	mesomelic dwarfism, Reinhardt-Pfeiffer type	Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	mondoexuq1wtf	Reinhardt-Pfeiffer syndrome|Reinhardt-Pfeiffer mesomelic dysplasia|mesomelic dysplasia Reinhardt-Pfeiffer type|hypoplasia of ulna and fibula|mesomelic dwarfism of hypoplastic ulna and fibula type|ulna and fibula, hypoplasia OF											MESH:C537349|SCTID:715472000|Orphanet:2634|GARD:0003555|UMLS:C1860616|ICD10:Q78.8|OMIM:191400																		owl:Class
MONDO:0001449	biolink:NamedThing	lymphocytic choriomeningitis	A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)	mondoexuq1wtf	lymphocytic choriomeningitis virus encephalomyelitis|LCM|lymphocytic meningoencephalitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis											DOID:12155|MESH:D008216|UMLS:C0024266|ICD10:A87.2|ICD9:049.0|COHD:434860																		owl:Class
MONDO:0005650	biolink:NamedThing	Arenaviridae infectious disease	Virus diseases caused by the arenaviridae.	mondoexuq1wtf	disease caused by arenavirus|Arenaviridae disease or disorder|arenavirus infection|infection, Arenaviridae|infection, arenavirus|infections, Arenaviridae|Arenaviridae infection|disease due to arenavirus|infections, arenavirus|arenavirus infections|Arenaviridae caused disease or disorder|arenavirus infectious disease											EFO:0007150|DOID:3944|MESH:D001117|ICD9:078.89|SCTID:3303004																		owl:Class
MONDO:0016201	biolink:NamedThing	qualitative or quantitative defects of myotilin		mondoexuq1wtf												Orphanet:209224																		owl:Class
MONDO:0004784	biolink:NamedThing	allergic asthma	A asthma with a basis in a pathological type I hypersensitivity reaction.	mondoexuq1wtf	atopic asthma|allergic form of asthma|extrinsic asthma with acute exacerbation|extrinsic asthma with status asthmaticus											DOID:9415|ICD9:493.0|ICD10:J45|UMLS:C0155877|SCTID:389145006																		owl:Class
MONDO:0016159	biolink:NamedThing	Gemignani syndrome		mondoexuq1wtf	spinocerebellar ataxia-amyotrophy-deafness syndrome|spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness											UMLS:C2931587|MESH:C537678|Orphanet:2074|GARD:0002451														https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome				owl:Class
MONDO:0020047	biolink:NamedThing	autosomal recessive syndromic cerebellar ataxia		mondoexuq1wtf												Orphanet:98099|UMLS:CN227742																		owl:Class
MONDO:0017513	biolink:NamedThing	split foot, unilateral		mondoexuq1wtf												ICD10:Q72.7|Orphanet:295124																		owl:Class
MONDO:0017450	biolink:NamedThing	split foot		mondoexuq1wtf	split foot|split foot (disease)		split foot (disease)									HP:0001839|ICD10:Q72.7|Orphanet:294994|SCTID:205358006																		owl:Class
MONDO:0044331	biolink:NamedThing	genetic transient congenital hypothyroidism	An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary transient congenital hypothyroidism											ICD10:P72.2|Orphanet:226316																		owl:Class
MONDO:0016556	biolink:NamedThing	transient congenital hypothyroidism due to neonatal factor		mondoexuq1wtf												Orphanet:238699|ICD10:P72.2																		owl:Class
MONDO:0001456	biolink:NamedThing	cobblestone retinal degeneration		mondoexuq1wtf	paving stone degeneration of retina|paving stone retinal degeneration											UMLS:C0154854|DOID:12166|ICD10:H35.43|SCTID:69134001|ICD9:362.61|COHD:438748																		owl:Class
MONDO:0001451	biolink:NamedThing	peripheral retinal degeneration	Degeneration of the peripheral retina.	mondoexuq1wtf	peripheral degeneration of retina|peripheral retinal Degeneration											ICD9:362.60|ICD9:362.6|SCTID:405721006|DOID:12161|UMLS:C1320640|ICD10:H35.4|COHD:437267|NCIT:C34919|ICD10:H35.40																		owl:Class
MONDO:0013929	biolink:NamedThing	autosomal recessive nonsyndromic deafness 98	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.	mondoexuq1wtf	deafness, autosomal recessive type 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|autosomal recessive deafness 98|DFNB98|deafness, autosomal recessive 98|TSPEAR autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 98											ICD10:H90.3|OMIM:614861|DOID:0110540|UMLS:C3553932																		owl:Class
MONDO:0020286	biolink:NamedThing	aortic malformation		mondoexuq1wtf												Orphanet:98718																		owl:Class
MONDO:0020285	biolink:NamedThing	transposition of the great arteries and conotruncal cardiac anomaly		mondoexuq1wtf												Orphanet:98717																		owl:Class
MONDO:0017790	biolink:NamedThing	gastric adenocarcinoma and proximal polyposis of the stomach	A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.	mondoexuq1wtf	familial fundic gland polyposis with gastric cancer|fundic gland polyposis|polyposis, gastric|GAPPS|polyposis, gastric, Dos Santos and de Magalhaes 1980											OMIM:619182|UMLS:CN203740|OMIM:175020|UMLS:C0236048|Orphanet:314022																		owl:Class
MONDO:0004788	biolink:NamedThing	cervix squamous papilloma	A papilloma that arises from the squamous epithelium of the cervix.	mondoexuq1wtf	uterine cervix squamous papilloma|squamous papilloma of uterine cervix|squamous papilloma of cervix uteri|squamous papilloma of the cervix|squamous papilloma of the uterine cervix|cervix squamous papilloma|cervical squamous papilloma|cervix uteri squamous papilloma|squamous papilloma of the cervix uteri|squamous papilloma of cervix											NCIT:C6342|UMLS:C1336900|DOID:9445																		owl:Class
MONDO:0100188	biolink:NamedThing	combined ApoA-I and ApoC-III deficiency	A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.	mondoexuq1wtf	ApoA-I and apoC-III deficiency, combined							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0020736	biolink:NamedThing	uncombable hair syndrome 1		mondoexuq1wtf	uncombable hair syndrome|uncombable hair syndrome 1|UHS1|pili trianguli Et canaliculi											OMIM:191480																		owl:Class
MONDO:0004997	biolink:NamedThing	chondroblastoma	A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.	mondoexuq1wtf	CHBL|chondroblastoma of bone|chondroblastoma (disease)|chondroblastoma		chondroblastoma (disease)									EFO:0000331|UMLS:C0008441|HP:0030432|MESH:D002804|NCIT:C2945|ICDO:9230/0|ONCOTREE:CHBL|GARD:0006047|DOID:2649																		owl:Class
MONDO:0014918	biolink:NamedThing	tall stature-intellectual disability-renal anomalies syndrome		mondoexuq1wtf	TROFAS|Thauvin-robinet-Faivre syndrome|THAUVIN-robinet-Faivre syndrome											Orphanet:500095|UMLS:C4310715|OMIM:617107																		owl:Class
MONDO:0021524	biolink:NamedThing	benign neoplasm of buccal mucosa	A benign neoplasm that involves the buccal mucosa.	mondoexuq1wtf	buccal mucosa benign neoplasm|benign tumor of buccal mucosa|benign tumor of the buccal mucosa|benign buccal mucosa tumor|benign buccal mucosa neoplasm|benign neoplasm of the buccal mucosa											UMLS:C0345566|NCIT:C4406|ICD9:210.4|SCTID:92039003																		owl:Class
MONDO:0007112	biolink:NamedThing	interventricular septum aneurysm	Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.	mondoexuq1wtf	aneurysm of interventricular septum											UMLS:C1387721|ICD10:Q21.0|MESH:C563239|OMIM:105805|Orphanet:99092																		owl:Class
MONDO:0018930	biolink:NamedThing	monosomy 21	Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.	mondoexuq1wtf	chromosome 21q deletion|21q deletion|partial monosomy 21q|monosomy type 21|deletion 21q|monosomy 21q|21q deletion syndrome|21q- syndrome|21q monosomy|partial 21q monosomy											UMLS:C0795875|MESH:C537108|GARD:0010860|NCIT:C36469|ICD10:Q93.0|Orphanet:574																		owl:Class
MONDO:0020089	biolink:NamedThing	acquired lipodystrophy	An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired lipodystrophy (disease)											Orphanet:98307|UMLS:C0877192|ICD10:E88.1|MedDRA:10049287																		owl:Class
MONDO:0014824	biolink:NamedThing	craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		mondoexuq1wtf	developmental delay-short stature-dysmorphic features-sparse hair syndrome|DEDSSH|Loucks-Innes syndrome|developmental delay with short stature, dysmorphic features, and sparse hair											OMIM:616901|UMLS:C4310801|Orphanet:459061																		owl:Class
MONDO:0005634	biolink:NamedThing	acute hemorrhagic conjunctivitis	Acute conjunctivitis that is characterized by bleeding into the conjunctiva.	mondoexuq1wtf	Apollo disease|epidemic hemorrhagic conjunctivitis|viral conjunctivitis											DOID:11227|MESH:D003232|ICD9:077.4|UMLS:C0009765|NCIT:C34505|SCTID:398264003|EFO:0007131																		owl:Class
MONDO:0043541	biolink:NamedThing	viral conjunctivitis	Conjunctivitis resulting from viral infection.	mondoexuq1wtf	Conjunctivitides, viral|Viruses caused conjunctivitis (disease)|Viruses conjunctivitis (disease)|viral conjunctivitis|viral Conjunctivitides											SCTID:45261009|UMLS:C0009774|NCIT:C34509|MESH:D003236																		owl:Class
MONDO:0013306	biolink:NamedThing	combined oxidative phosphorylation defect type 7	Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	mondoexuq1wtf	C12orf65 combined oxidative phosphorylation deficiency|severe C12ORF65-related combined oxidative phosphorylation defect|C12ORF65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 7|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|severe C12ORF65-related COXPD|COXPD7|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|combined oxidative phosphorylation deficiency 7											DOID:0111487|SCTID:763204003|OMIM:613559|UMLS:C3150801|ICD10:G31.8|Orphanet:254930																		owl:Class
MONDO:0002359	biolink:NamedThing	periosteal chondroma	A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.	mondoexuq1wtf	periosteal chondroma|juxtacortical chondroma (morphologic abnormality)|juxtacortical chondroma											ICDO:9221/0|DOID:2601|UMLS:C0334548|NCIT:C4302																		owl:Class
MONDO:0007830	biolink:NamedThing	insensitivity to pain with hyperplastic Myelinopathy		mondoexuq1wtf	insensitivity to pain with hyperplastic Myelinopathy											OMIM:147530																		owl:Class
MONDO:0025453	biolink:NamedThing	pneumonia, progressive interstitial, of sheep	Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.	mondoexuq1wtf	Maedi|progressive interstitial pneumonia of sheep											UMLS:C0032306|MESH:D011021																		owl:Class
MONDO:0001702	biolink:NamedThing	labia majora carcinoma	A carcinoma that arises from the labia majora.	mondoexuq1wtf	carcinoma of labia majora|carcinoma of labium majora|carcinoma of the labia majora|labia majora carcinoma|labia majora cancer|labium majora carcinoma											NCIT:C9363|UMLS:C1334356|DOID:13389																		owl:Class
MONDO:0010344	biolink:NamedThing	intellectual disability, X-linked 45	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.	mondoexuq1wtf	mental retardation, X-linked type 45|mental retardation, X-linked 45|ZNF81 non-syndromic X-linked intellectual disability|MRX45|intellectual disability, X-linked 45|intellectual disability, X-linked type 45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81											MESH:C564503|OMIM:300498|UMLS:C1845333																		owl:Class
MONDO:0010728	biolink:NamedThing	SCARF syndrome	SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.	mondoexuq1wtf	SCARF syndrome|skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities											OMIM:312830|GARD:0000247|MESH:C536625|ICD10:Q82.8|UMLS:C1839321|SCTID:734173003|Orphanet:3134																		owl:Class
MONDO:0021431	biolink:NamedThing	squamous cell carcinoma of buccal mucosa	A squamous cell carcinoma that involves the buccal mucosa.	mondoexuq1wtf	scc of the buccal mucosa|scc of buccal mucosa|squamous cell carcinoma of the buccal mucosa|buccal mucosa squamous cell carcinoma											NCIT:C4040|SCTID:254437001|UMLS:C0280299																		owl:Class
MONDO:0019849	biolink:NamedThing	isolated micropenis		mondoexuq1wtf												Orphanet:95707|ICD10:Q55.6																		owl:Class
MONDO:0015933	biolink:NamedThing	non-syndromic urogenital tract malformation of male	A non-syndromic urogenital tract malformation that involves the male organism.	mondoexuq1wtf	non-syndromic urogenital tract malformation of male organism|nonsyndromic urogenital tract malformation of male|isolated urogenital tract malformation of male|male organism non-syndromic urogenital tract malformation											Orphanet:182121																		owl:Class
MONDO:0006234	biolink:NamedThing	grade III prostatic intraepithelial neoplasia	High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.	mondoexuq1wtf	adenocarcinoma in situ of prostate|pin III|grade 3 prostatic intraepithelial neoplasia|grade III pin|carcinoma in situ of prostate|prostate adenocarcinoma in situ|stage 0 prostate gland carcinoma|prostate carcinoma in situ|prostate gland in situ carcinoma|carcinoma in situ of prostate gland|prostate gland carcinoma in situ|grade 3 pin|adenocarcinoma in situ of the prostate											DOID:8634|COHD:200970|SCTID:92691004|UMLS:C0154088|ICD9:233.4|ICD10:D07.5|EFO:1000283|NCIT:C3642																		owl:Class
MONDO:0003133	biolink:NamedThing	exudative glomerulonephritis	Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.	mondoexuq1wtf												UMLS:C0546345|DOID:4777|NCIT:C35706																		owl:Class
MONDO:0013625	biolink:NamedThing	Parkinson disease 17	Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.	mondoexuq1wtf	PARK17|Parkinson disease 17|VPS35 Parkinson disease|Parkinson's disease 17|Parkinson disease caused by mutation in VPS35|autosomal dominant Parkinson disease 17|Parkinson disease type 17											OMIM:614203|DOID:0060897|UMLS:C3280133																		owl:Class
MONDO:0005701	biolink:NamedThing	chlamydia trachomatis infectious disease	An infection that is caused by Chlamydia trachomatis.	mondoexuq1wtf	chlamydia trachomatis infectious disease|Chlamydia trachomatis disease or disorder|chlamydia|Chlamydia trachomatis caused disease or disorder|chlamydial disease|Chlamydia trachomatis infectious disease|Chlamydial infection											COHD:438066|DOID:11263|ICD9:079.98|ICD9:078.88|EFO:0007205|SCTID:105629000|ICD9:079.88|NCIT:C34463																		owl:Class
MONDO:0015625	biolink:NamedThing	diazoxide-resistant diffuse hyperinsulinism	Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form											Orphanet:165988|ICD10:E16.1																		owl:Class
MONDO:0001174	biolink:NamedThing	conjunctival vascular disease	A disorder of the vasculature of the cornea.	mondoexuq1wtf	vascular abnormalities of conjunctiva|conjunctival vasculature disease|conjunctival vascular disorder|disease or disorder of conjunctival vasculature|conjunctival vascular abnormality|disease of conjunctival vasculature|conjunctival vasculature disease or disorder|disorder of conjunctival vasculature											ICD10:H11.41|SCTID:74100001|DOID:10989|NCIT:C35116|ICD9:372.74																		owl:Class
MONDO:0006857	biolink:NamedThing	middle cerebral artery infarction	Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.	mondoexuq1wtf												DOID:3525|MESH:D020244|UMLS:C0740392|EFO:1001045																		owl:Class
MONDO:0003023	biolink:NamedThing	aorta angiosarcoma	A malignant vascular neoplasm arising from the aorta.	mondoexuq1wtf	hemangiosarcoma of aorta|aorta angiosarcoma (disease)|angiosarcoma (disease) of aorta|hemangiosarcoma of the aorta|aortic angiosarcoma|angiosarcoma of the aorta|angiosarcoma of aorta|aortic hemangiosarcoma											NCIT:C5376|UMLS:C1332312|DOID:4510																		owl:Class
MONDO:0004539	biolink:NamedThing	aortic malignant tumor	A cancer that involves the aorta.	mondoexuq1wtf	malignant neoplasm of the aorta|aorta cancer|cancer of aorta|malignant tumor of the aorta|malignant tumor of aorta|aortic malignant neoplasm|malignant neoplasm of aorta|malignant aortic neoplasm|malignant aorta neoplasm											NCIT:C5375|UMLS:C1334560|DOID:8352																		owl:Class
MONDO:0011218	biolink:NamedThing	autosomal recessive congenital ichthyosis 11		mondoexuq1wtf	ichthyosis, congenital, autosomal recessive type 11|ichthyosis-hypotrichosis syndrome|autosomal recessive ichthyosis with hypotrichosis|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ARCI11|autosomal recessive congenital ichthyosis type 11|ichthyosis with hypotrichosis, autosomal recessive|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|IFAH syndrome|ARIH|hypotrichosis-congenital ichthyosis syndrome|ichthyosis, congenital, autosomal recessive 11|IHS											MESH:C536273|Orphanet:91132|OMIM:602400|DOID:0060720|UMLS:C1835851|ICD10:Q80.8|GARD:0010116																		owl:Class
MONDO:0016751	biolink:NamedThing	malignant perineurioma	A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.	mondoexuq1wtf	malignant peripheral nerve sheath tumor with perineurial differentiation|perineurioma, malignant|perineurial malignant peripheral nerve sheath tumor											NCIT:C66845|ICDO:9571/3|UMLS:C1266188|Orphanet:252128|SCTID:761958009																		owl:Class
MONDO:0019404	biolink:NamedThing	perineurioma	A usually benign perineurioma not associated with a nerve, arising from the soft tissues.	mondoexuq1wtf	soft tissue perineurioma|perineurioma											ICD9:215.9|DOID:4697|GARD:0012698|Orphanet:85102|SCTID:404036006|ICDO:9571/0|UMLS:C0751691|NCIT:C4973|ICD10:C47.9														https://rarediseases.info.nih.gov/diseases/12698/perineurioma				owl:Class
MONDO:0001144	biolink:NamedThing	partial third-nerve palsy		mondoexuq1wtf	partial third nerve palsy|third nerve palsy with pupil sparing|third or oculomotor nerve palsy, partial											SCTID:194118007|UMLS:C0271370|ICD9:378.51|DOID:10864																		owl:Class
MONDO:0001309	biolink:NamedThing	oculomotor nerve paralysis	Paralysis of the oculomotor nerve.	mondoexuq1wtf	oculomotor nerve cranial nerve palsy|third cranial nerve paralysis|IIIrd nerve paralysis|cranial nerve palsy of oculomotor nerve|oculomotor nerve paralysis|III nerve palsy|oculomotor palsy											Orphanet:98685|SCTID:388980004|DOID:11550|NCIT:C27597|ICD10:H49.0|UMLS:C0028866																		owl:Class
MONDO:0022948	biolink:NamedThing	Deal Barratt Dillon syndrome		mondoexuq1wtf	Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea											UMLS:C2931773|MESH:C538206																		owl:Class
MONDO:0001083	biolink:NamedThing	Fanconi renotubular syndrome	A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.	mondoexuq1wtf	Lignac-Fanconi syndrome|congenital Fanconi syndrome|Fanconi syndrome|De toni-debre-Fanconi syndrome|De toni-Fanconi syndrome|Fanconi-de toni syndrome|infantile nephropathic cystinosis|Fanconi-de-toni syndrome|toni-debre-Fanconi syndrome|adult Fanconi syndrome|Fanconi's syndrome|deToni Fanconi syndrome											MESH:D005198|SCTID:40488004|NCIT:C3034|GARD:0009120|DOID:1062|DC:0000148|UMLS:C0015624								adult Fanconi Anemia						https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome				owl:Class
MONDO:0025152	biolink:NamedThing	non-human ape disease	Diseases of chimpanzees, gorillas, and orangutans.	mondoexuq1wtf	disease, Pongidae|disease, ape|Pongidae diseases|Pongidae disease|diseases, ape|ape disease|diseases, Pongidae											UMLS:C0242635|MESH:D018420																		owl:Class
MONDO:0025013	biolink:NamedThing	non-human primate disease	Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.	mondoexuq1wtf	diseases, Primate|disease, Primate|Primate disease											MESH:D018419|UMLS:C0242634																		owl:Class
MONDO:0010399	biolink:NamedThing	chromosome Xp21 deletion syndrome		mondoexuq1wtf	chromosome Xp21 deletion syndrome|monosomy Xp21|Del(X)(p21)|complex glycerol kinase deficiency|Glycerol kinase deficiency-contiguous gene syndrome|Complex Glycerol kinase deficiency|Xp21 microdeletion syndrome|Xp21 contiguous gene deletion syndrome											Orphanet:261476|UMLS:C0795887|DOID:0060427|ICD9:277.6|ICD10:Q99.8|OMIM:300679|SCTID:297257004																		owl:Class
MONDO:0004835	biolink:NamedThing	necrotizing fasciitis	Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.	mondoexuq1wtf												GARD:0006454|ICD10:M72.6|UMLS:C0238124|MESH:D019115|DOID:9602|ICD9:728.86|NCIT:C84916|SCTID:52486002|COHD:133566														https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis				owl:Class
MONDO:0004830	biolink:NamedThing	fasciitis	Inflammation process in fascia.	mondoexuq1wtf	fasciitis|inflammation of fascia|fasciitis (disease)|Fascitis|fascia inflammation		fasciitis (disease)									SCTID:36948007|NCIT:C50559|HP:0100537|ICD9:729.4|MESH:D005208|UMLS:C0015645|ICD10:M72.9|COHD:133569|DOID:9598																		owl:Class
MONDO:0013983	biolink:NamedThing	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		mondoexuq1wtf	ectodermal dysplasia, anhidrotic|ECTD11B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive											DOID:0111654|OMIM:614941|UMLS:C3539920																		owl:Class
MONDO:0016619	biolink:NamedThing	autosomal recessive hypohidrotic ectodermal dysplasia	A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.	mondoexuq1wtf	autosomal recessive anhidrotic ectodermal dysplasia|anhidrotic ectodermal dysplasia, autosomal recessive|hypohidrotic ectodermal dysplasia, autosomal recessive|AR-HED|hypohidrotic ectodermal dysplasia autosomal recessive											UMLS:C0406702|NCIT:C84580|Orphanet:248|GARD:0002057|ICD10:Q82.4|SCTID:27025001|MESH:D053360														https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive				owl:Class
MONDO:0013648	biolink:NamedThing	familial progressive hyperpigmentation	Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.	mondoexuq1wtf	Fph|universal melanosis|FPH1|hyperpigmentation, familial progressive, 1|melanosis diffusa congenita|melanosis universalis hereditaria											Orphanet:79146|UMLS:CN205811|SCTID:715630006|UMLS:C1840392|OMIM:614233|ICD10:L81.4																		owl:Class
MONDO:0018024	biolink:NamedThing	hydroa vacciniforme	A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.	mondoexuq1wtf	hV											UMLS:C0020241|NCIT:C84766|GARD:0009654|Orphanet:330058|MESH:D006837|ICD10:L56.4|SCTID:200837006														https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme				owl:Class
MONDO:0011669	biolink:NamedThing	hypotonia-cystinuria syndrome	Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.	mondoexuq1wtf	homozygous 2P16 deletion syndrome, formerly|hypotonia-cystinuria syndrome|cystinuria with mitochondrial disease|homozygous 2P21 deletion syndrome|HCS|homozygous 2P16 deletion syndrome					Editor note: check this. ORDO has type 1 as a superclass. Also check wether is_a: MONDO:0016538 is appropriate.						Orphanet:163690|DOID:0060858|SCTID:721173005|OMIM:606407|MESH:C564710|ICD10:E72.0|EFO:0007550																		owl:Class
MONDO:0003630	biolink:NamedThing	pancreatic serous cystadenocarcinoma	A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.	mondoexuq1wtf	serous cystadenocarcinoma of pancreas|pancreatic serous cystadenocarcinoma|serous cystadenocarcinoma of the pancreas|pancreas serous adenocarcinoma											ICD10:C25.0|ICD10:C25.2|Orphanet:424073|DOID:5751|ICD10:C25.7|NCIT:C5724|UMLS:C1335315|ICD10:C25.1|ICD10:C25.8																		owl:Class
MONDO:0002810	biolink:NamedThing	pancreatic serous cystic neoplasm	A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.	mondoexuq1wtf	pancreatic serous cystic neoplasm|pancreatic serous neoplasm											NCIT:C41248|DOID:3919|UMLS:C1518875																		owl:Class
MONDO:0007482	biolink:NamedThing	dyschondrosteosis-nephritis syndrome	Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.	mondoexuq1wtf	dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis|dyschondrosteosis nephritis											ICD10:Q87.8|GARD:0001994|UMLS:C1851986|Orphanet:1765|OMIM:127350|MESH:C565080														https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis				owl:Class
MONDO:0024520	biolink:NamedThing	renal hypodysplasia/aplasia 3		mondoexuq1wtf	RHDA3|renal hypodysplasia/aplasia 3											EFO:0009137|OMIM:617805|UMLS:CN703737																		owl:Class
MONDO:0018470	biolink:NamedThing	renal agenesis	Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).	mondoexuq1wtf	hereditary renal aplasia|renal agenesis|renal agenesis (disease)|renal aplasia|absent/underdeveloped kidney|renal adysplasia|hereditary urogenital adysplasia|renal hypodysplasia/aplasia|renal agenesis/hypoplasia|absent/small kidney		renal agenesis (disease)									OMIMPS:191830|GARD:0009228|HP:0000104|DOID:14766|HP:0008678|ICD10:Q60.2|ICD10:Q60.1|Orphanet:411709|NCIT:C99041|SCTID:204942005|COHD:4003487|ICD10:Q60.0																		owl:Class
MONDO:0020721	biolink:NamedThing	X-linked sideroblastic anemia 1		mondoexuq1wtf	erythroid 5-aminolevulinate synthase deficiency|anemia, hypochromic|sideroblastic anemia X-linked|hereditary iron-loading Anemia|anemia sex-linked hypochromic sideroblastic|X chromosome-linked sideroblastic anemia|ANH1|anemia, hereditary sideroblastic|anemia, sideroblastic, 1|anemia, sideroblastic, X-linked|X-linked sideroblastic anemia|anemia hereditary sideroblastic|XLSA|sideroblastic anemia, X-linked|SIDBA1											MESH:C536761|Orphanet:75563|GARD:0009456|DOID:0060063|UMLS:C0221018|ICD10:D64.0|SCTID:62677000|OMIM:300751																		owl:Class
MONDO:0017754	biolink:NamedThing	inborn disorder of porphyrin metabolism	An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.	mondoexuq1wtf	inborn porphyrin-containing compound metabolic process disorder|inborn error of porphyrin-containing compound metabolic process|disorder of porphyrin and haem metabolism|inborn disorder of porphyrin and haem metabolism|rare inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism					Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired.						ICD10:E80.1|SCTID:403832004|ICD10:E80.6|Orphanet:309813|ICD10:E80.7|ICD10:E80.4|UMLS:C1275125|ICD10:E80.5|ICD10:E80.2|ICD10:E80.0|ICD10:E80.3																		owl:Class
MONDO:0000166	biolink:NamedThing	encephalopathy, acute, infection-induced		mondoexuq1wtf												OMIMPS:610551|UMLS:CN236791|DC:0000646																		owl:Class
MONDO:0013266	biolink:NamedThing	intellectual disability, autosomal dominant 20	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|MEF2C autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 20|chromosome 5Q14.3 deletion syndrome, proximal|autosomal dominant intellectual disability 20|intellectual disability, autosomal dominant type 20|mental retardation, autosomal dominant 20|MRD20|mental retardation, autosomal dominant type 20|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|intellectual disability, autosomal dominant 20											OMIM:613443|DOID:0070050|UMLS:C3150700																		owl:Class
MONDO:0011469	biolink:NamedThing	congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	mondoexuq1wtf	amegakaryocytic thrombocytopenia, congenital|CAMT|thrombocytopenia congenital amegakaryocytic|congenital amegakaryocytic thrombocytopenic purpura											UMLS:C1327915|NCIT:C115207|GARD:0000640|OMIM:604498|MESH:C535982|ICD10:D61.0|DOID:0090118|GARD:640|Orphanet:3319|SCTID:716336002														https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia				owl:Class
MONDO:0018796	biolink:NamedThing	isolated constitutional thrombocytopenia		mondoexuq1wtf	non-syndromic constitutional thrombocytopenia|Cconstitutional thrombocytopenia without extra-hematopoietic manifestation											Orphanet:477797																		owl:Class
MONDO:0021416	biolink:NamedThing	polyp of gallbladder	A polyp that involves the gall bladder.	mondoexuq1wtf	gall bladder polyp|polyp of the gallbladder|gallbladder polyp											SCTID:197433003|UMLS:C0262493|NCIT:C3909																		owl:Class
MONDO:0008963	biolink:NamedThing	Chediak-Higashi syndrome	ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.	mondoexuq1wtf	ChC)diak-Higashi disease|Chediak - Steinbrinck anomaly|CHS|ChC)diak-Higashi-Steinbrink syndrome|Chédiak-Higashi syndrome|Chédiak-Higashi disease|Chediak Higashi syndrome|Chédiak-Higashi-Steinbrink syndrome|Chediak-Higashi syndrome											MedDRA:10008415|MESH:D002609|ICD10:D72.0|DOID:2935|ICD10:E70.3|UMLS:C0007965|SCTID:111396008|Orphanet:167|GARD:0006035|ICD10:E70.330|NCIT:C2941|OMIM:214500														https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome				owl:Class
MONDO:0019738	biolink:NamedThing	atypical hemolytic-uremic syndrome with H factor anomaly		mondoexuq1wtf	aHUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|D-HUS with H factor anomaly|atypical HUS with H factor anomaly											ICD10:D58.8|UMLS:CN206650|Orphanet:93579																		owl:Class
MONDO:0007538	biolink:NamedThing	amelogenesis imperfecta, type 3A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.	mondoexuq1wtf	amelogenesis imperfecta, type 3|amelogenesis imperfecta type 3|ADHCAI|amelogenesis imperfecta, hypomineralization type|amelogenesis imperfecta type III|FAM83H amelogenesis imperfecta|amelogenesis imperfecta type 3A|AI3|amelogenesis imperfecta, type 3A|amelogenesis imperfecta, hypocalcification type, autosomal dominant|AI3A|amelogenesis imperfecta, type III|autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, type IIIA|amelogenesis imperfecta hypomineralization type|amelogenesis imperfecta caused by mutation in FAM83H											ICD10:K00.5|DOID:0110055|SCTID:109471001|Orphanet:100032|MESH:C562880|OMIM:130900																		owl:Class
MONDO:0010140	biolink:NamedThing	isolated thyrotropin-releasing hormone deficiency	Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.	mondoexuq1wtf	thyrotropin-releasing hormone deficiency|isolated thyrotropin-releasing factor deficiency|tertiary hypothyroidism|isolated prothyroliberin deficiency|hypothalamic hypothyroidism|TRH deficiency|isolated TRH deficiency|isolated TSH-releasing factor deficiency|isolated protirelin deficiency|isolated thyroliberin deficiency|isolated TRF deficiency											SCTID:10736002|ICD9:253.4|Orphanet:238670|ICD10:E03.1|OMIM:275120|NCIT:C121741																		owl:Class
MONDO:0016410	biolink:NamedThing	central congenital hypothyroidism	Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.	mondoexuq1wtf	hypothalamic-pituitary hypothyroidism|central hypothyroidism|thyrotropin deficiency|secondary hypothyroidism|TSH deficiency|thyroid stimulating hormone deficiency											Orphanet:226298|ICD10:E03.1|GARD:0012280|NCIT:C113144														https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism				owl:Class
MONDO:0009990	biolink:NamedThing	Revesz syndrome	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	mondoexuq1wtf	DKCA5|exudative retinopathy with bone marrow failure|dyskeratosis congenita with bilateral exudative retinopathy|Revesz syndrome|dyskeratosis congenita, autosomal dominant 5|retinopathy-anemia-central nervous system anomalies syndrome|Revesz-DeBuse syndrome											Orphanet:3088|NCIT:C152064|DOID:0070026|GARD:0004695|MESH:C538371|UMLS:C1327916|OMIM:268130|SCTID:723512008														https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome				owl:Class
MONDO:0023197	biolink:NamedThing	frontonasal dysplasia Klippel feil syndrome		mondoexuq1wtf												GARD:0002394														https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome				owl:Class
MONDO:0002367	biolink:NamedThing	kidney cancer	Primary or metastatic malignant neoplasm involving the kidney.	mondoexuq1wtf	malignant renal neoplasm|malignant neoplasm of kidney except pelvis|kidney cancer|malignant kidney neoplasm|malignant tumor of kidney|malignant neoplasm of the kidney|malignant kidney tumor|malignant tumour of kidney|cancer of kidney|malignant neoplasm of kidney|malignant renal tumor|malignant tumor of the kidney											ICD9:189.0|UMLS:CN881103|SCTID:363518003|ICD10:C64|NCIT:C7548|MESH:D007680|DOID:263																		owl:Class
MONDO:0000520	biolink:NamedThing	parietal lobe ependymal tumor	An ependymal tumor affecting the parietal lobe of the brain.	mondoexuq1wtf	parietal lobe ependymoma|parietal lobe ependymal tumor|ependymal tumor of parietal lobe											NCIT:C131575|DOID:0050903|UMLS:C4330935																		owl:Class
MONDO:0005295	biolink:NamedThing	intermittent vascular claudication	A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.	mondoexuq1wtf	Charcot's syndrome|intermittent claudication											DOID:3669|SCTID:63491006|MESH:D007383|ICD10:I73.9|ICD9:440.21|UMLS:C0021775|EFO:0003876																		owl:Class
MONDO:0007184	biolink:NamedThing	alopecia, androgenetic, 1		mondoexuq1wtf	AGA1|alopecia, androgenetic, 1|baldness, Male pattern											OMIM:109200																		owl:Class
MONDO:0010703	biolink:NamedThing	ornithine carbamoyltransferase deficiency	Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.	mondoexuq1wtf	OCT deficiency|ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency|deficiency of citrulline phosphorylase|OTC deficiency|valproate sensitivity|ornithine carbamoyltransferase deficiency disease|OTCD|ornithine transcarbamylase deficiency, hyperammonemia due to											EFO:0007409|SCTID:80908008|DOID:9271|UMLS:C0268542|OMIM:311250|MedDRA:10052450|Orphanet:664|ICD10:E72.4|GARD:0008391|NCIT:C84957|MESH:D020163																		owl:Class
MONDO:0009124	biolink:NamedThing	Dubowitz syndrome	Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.	mondoexuq1wtf	dwarfism-eczema-peculiar facies syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|Dubowitz's syndrome|Dubowitz syndrome|intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci											UMLS:C0175691|MESH:C535718|DOID:14796|ICD10:Q87.1|GARD:0006290|MedDRA:10059589|SCTID:2593002|ICD9:742.8|Orphanet:235|NCIT:C125591|OMIM:223370														https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome				owl:Class
MONDO:0021644	biolink:NamedThing	esophageal varices without bleeding		mondoexuq1wtf	esophageal varices without bleeding											ICD9:456.1|UMLS:C0267092|SCTID:14223005|ICD10:I85.00|ICD10:I85.9																		owl:Class
MONDO:0001221	biolink:NamedThing	esophageal varices	Abnormally dilated veins of the esophagus.	mondoexuq1wtf	bleeding oesophageal varices|esophageal varices with bleeding in disease EC|bleeding esophageal varices|esophageal varices|esophagus varicose disease|esophageal varices without mention of bleeding|esophageal varix|varicose disease of esophagus|esophageal varices in disease classified elsewhere, with bleeding											NCIT:C53506|ICD10:I85.01|GARD:0006384|ICD9:456.20|SCTID:28670008|MESH:D004932|ICD9:456.0|ICD10:I85|ICD9:456.2|DOID:112																		owl:Class
MONDO:0008751	biolink:NamedThing	corticosterone methyloxidase type 1 deficiency		mondoexuq1wtf	corticosterone methyl oxidase type II deficiency|CMO 1 deficiency|corticosterone methyl oxidase type I deficiency|corticosterone methyloxidase type I deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|18 Hydroxylase deficiency|18 alpha hydroxylase deficiency|18-hydroxylase deficiency|steroid 18-hydroxylase deficiency|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency due to defect in 18 hydroxylase|18-Hydroxylase deficiency|CMO II deficiency|CAH - 18-hydroxylase deficiency|aldosterone deficiency due to 18-hydroxylase defect|CMO I deficiency|corticosterone 18-monooxygenase deficiency|corticosterone methyloxidase type 1 deficiency|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency 1											OMIM:203400|SCTID:47757001|UMLS:CN074214|DOID:0080626|GARD:0005660														https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency				owl:Class
MONDO:0000946	biolink:NamedThing	psychologic vaginismus	Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.	mondoexuq1wtf	non-organic vaginismus|functional vaginismus|psychogenic vaginismus											SCTID:71787009|ICD10:F52.5|ICD9:306.51|DOID:10131																		owl:Class
MONDO:0004487	biolink:NamedThing	endometrial type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.	mondoexuq1wtf	cervical adenomyoma, endometrial type											DOID:8178|NCIT:C40233|UMLS:C1516406																		owl:Class
MONDO:0003238	biolink:NamedThing	cervical adenomyoma	A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.	mondoexuq1wtf	cervical adenomyoma											NCIT:C40231|DOID:4995|UMLS:C1516404																		owl:Class
MONDO:0010277	biolink:NamedThing	syndromic X-linked intellectual disability Shashi type	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	mondoexuq1wtf	mental retardation X-linked Shashi type|intellectual disability, X-linked, syndromic 11|X-linked mental retardation Shashi type|mental retardation, X-linked, syndromic 11, Shashi type|syndromic X-linked intellectual disability type 11|intellectual disability, X-linked, Shashi type|mental retardation, X-linked, Shashi type|intellectual disability X-linked Shashi type|MRXS11|mental retardation X-linked syndromic 11|X-linked intellectual disability Shashi type|intellectual disability X-linked syndromic 11|X-linked intellectual disability, Shashi type|SMRXS|Shashi X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic 11|Shashi X-linked mental retardation syndrome|intellectual disability, X-linked, syndromic 11, Shashi type											GARD:0004119|OMIM:300238|Orphanet:85286|SCTID:718900002|UMLS:C4305085|UMLS:C1846145|ICD10:Q87.8|MESH:C537135|DOID:0060826																		owl:Class
MONDO:0003187	biolink:NamedThing	Bartholin gland adenoid cystic carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.	mondoexuq1wtf	major vestibular gland adenoid cystic carcinoma|Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma											DOID:4879|UMLS:C1511047|NCIT:C40295																		owl:Class
MONDO:0003853	biolink:NamedThing	Bartholin gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the major vestibular gland.	mondoexuq1wtf	Bartholin gland adenocarcinoma|adenocarcinoma of Bartholin's gland|major vestibular gland adenocarcinoma|adenocarcinoma of the Bartholin's gland											UMLS:C0238016|DOID:6316|NCIT:C7719																		owl:Class
MONDO:0017987	biolink:NamedThing	syringomyelia	Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).	mondoexuq1wtf	hydromyelia											Orphanet:3280|COHD:378533|MedDRA:10042928|DOID:327|UMLS:C0039144|ICD10:Q06.4|SCTID:111496009|GARD:0007725|ICD10:G95.0|NCIT:C85179|MESH:D013595														https://rarediseases.info.nih.gov/diseases/7725/syringomyelia				owl:Class
MONDO:0004309	biolink:NamedThing	sarcomatosis	The occurrence of several sarcomas in different anatomic locations.	mondoexuq1wtf	sarcomatosis (morphologic abnormality)|sarcomatosis|sarcomatosis NOS (morphologic abnormality)											ICDO:8800/9|DOID:7615|NCIT:C4243|UMLS:C0334451																		owl:Class
MONDO:0004244	biolink:NamedThing	proximal-type epithelioid sarcoma	An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.	mondoexuq1wtf	central epithelioid sarcoma|PTES|proximal-type epithelioid sarcoma											NCIT:C27472|UMLS:C1335563|ONCOTREE:PTES|DOID:7492																		owl:Class
MONDO:0008487	biolink:NamedThing	polycystic ovary syndrome	A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.	mondoexuq1wtf	PCOS1|Pco1|PCOS|polycystic ovaries|Pcos|polycystic ovarian disease|multicystic ovaries|polycystic ovary syndrome|polycystic ovary|polycystic ovary syndrome 1|Stein-Leventhal synd.|hyperandrogenemia|Stein-Leventhal syndrome											NCIT:C26862|UMLS:C0032460|SCTID:69878008|EFO:0000660|MESH:D011085|COHD:195501|OMIM:184700|DOID:11612|ICD9:256.4|ICD10:E28.2																		owl:Class
MONDO:0009435	biolink:NamedThing	hypospadias-intellectual disability, Goldblatt type syndrome	Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.	mondoexuq1wtf	hypospadias-intellectual disability syndrome|hypospadias mental retardation syndrome|hypospadias mental retardation Goldblatt type|hypospadias intellectual disability syndrome|Goldblatt Wallis syndrome|hypospadias intellectual deficit Goldblatt type|hypospadias intellectual disability Goldblatt type|Goldblatt-Wallis syndrome|hypospadias-mental retardation syndrome											ICD10:Q87.8|GARD:0002928|MESH:C563067|Orphanet:2261|OMIM:241760|SCTID:716096005														https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type				owl:Class
MONDO:0017306	biolink:NamedThing	disorder of phenylalanine metabolism		mondoexuq1wtf												SCTID:12957008|ICD10:E70.1|UMLS:C0268461|Orphanet:284814|ICD10:E70.0|ICD9:270.8																		owl:Class
MONDO:0030897	biolink:NamedThing	Lessel-Kreienkamp syndrome		mondoexuq1wtf	LESKRES											OMIM:619149																		owl:Class
MONDO:0015315	biolink:NamedThing	neonatal brainstem dysfunction	Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.	mondoexuq1wtf												Orphanet:137929|UMLS:CN199283																		owl:Class
MONDO:0044324	biolink:NamedThing	Al Kaissi syndrome	Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).	mondoexuq1wtf	ALKAS|AL KAISSI syndrome|Growth retardation, spine malformation, dysmorphic facies, and developmental delay											OMIM:617694|UMLS:CN502749																		owl:Class
MONDO:0016703	biolink:NamedThing	anaplastic oligoastrocytoma	An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.	mondoexuq1wtf	AOAST|anaplastic mixed glioma|anaplastic oligoastrocytoma|aMOA|WHO grade III mixed glioma											Orphanet:251663|EFO:0002500|UMLS:C0431108|ONCOTREE:AOAST|ICD10:C71.9|GARD:0010637|NCIT:C6959														https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma				owl:Class
MONDO:0000740	biolink:NamedThing	adenoid hypertrophy	An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.	mondoexuq1wtf	adenoidal hypertrophy|enlarged adenoids											DOID:0060311|ICD10:J35.2|SCTID:111591002|ICD9:474.12|UMLS:C0149825|MedDRA:10001229																		owl:Class
MONDO:0011931	biolink:NamedThing	ovarian cancer, susceptibility to, 1		mondoexuq1wtf	ovarian cancer, susceptibility to, 1|OVCAS1											OMIM:607893																		owl:Class
MONDO:0024868	biolink:NamedThing	metastatic carcinoma in the adrenal medulla	A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.	mondoexuq1wtf	metastatic carcinoma to the adrenal medulla|metastatic carcinoma in the adrenal medulla											NCIT:C9276|UMLS:C1334717																		owl:Class
MONDO:0024879	biolink:NamedThing	metastatic carcinoma	A carcinoma which has spread from the original site of growth to another anatomic site.	mondoexuq1wtf	metastatic carcinoma					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						ICDO:8010/6|UMLS:C1384494|NCIT:C3482																		owl:Class
MONDO:0021119	biolink:NamedThing	non-functioning endocrine neoplasm	A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.	mondoexuq1wtf	nonfunctioning tumor|nonfunctional Endocrine neoplasm|non-functioning endocrine neoplasm|endocrine-inactive tumor											UMLS:C2986656|NCIT:C94760																		owl:Class
MONDO:0007962	biolink:NamedThing	Megalodactyly	A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.	mondoexuq1wtf	Megalodactyly|macrodactyly											MESH:C562546|NCIT:C48900|OMIM:155500|SCTID:48449000																		owl:Class
MONDO:0004307	biolink:NamedThing	sarcomatosis of the meninges	A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.	mondoexuq1wtf	meningeal cluster sarcomatosis|sarcomatosis of meninges|meningeal sarcomatosis|sarcomatosis of the meninges|meninges sarcomatosis|meningeal sarcomatosis (morphologic abnormality)											ICDO:9539/3|NCIT:C4334|DOID:7613|UMLS:C0334612																		owl:Class
MONDO:0011240	biolink:NamedThing	megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.	mondoexuq1wtf	M-CMTC|megalencephaly-cutis marmorata telangiectatica congenita|macrocephaly cutis marmorata telangiectatica congenita|macrocephaly-capillary malformation syndrome|M-CM|megalocephaly cutis marmorata telangiectatica congenita|megalencephaly-cutis marmorata telangiectatica congenita syndrome|MCAP|macrocephaly-capillary malformation|megalencephaly-capillary malformation-polymicrogyria syndrome|megalencephaly-capillary malformation syndrome|MCMTC|MCM|macrocephaly-cutis marmorata telangiectatica congenita syndrome|megalencephaly cutis marmorata telangiectatica congenita|macrocephaly-cutis marmorata telangiectatica congenita											UMLS:C1865285|MESH:C536142|OMIM:602501|GARD:0006950|ICD9:759.89|Orphanet:60040|SCTID:703370002|ICD10:Q87.3																		owl:Class
MONDO:0009678	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.	mondoexuq1wtf	Fukuyama congenital muscular dystrophy|MDDGA4|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|congenital muscular dystrophy, Fukuyama type|FCMD|muscle-eye-brain-FKTN related											NCIT:C126741|DOID:0050559|Orphanet:272|ICD10:G71.0|SCTID:111502003|OMIM:253800|UMLS:C0410174																		owl:Class
MONDO:0034216	biolink:NamedThing	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha		mondoexuq1wtf	resistance to thyroid hormone alpha											Orphanet:566231																		owl:Class
MONDO:0009067	biolink:NamedThing	cystinuria	Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.	mondoexuq1wtf	cystinuria, type a|cystinuria, type A/B|cystinuria, type B|cystinuria, type II|cystinuria, type I, formerly|cystinuria-lysinuria|cystinuria|CSNU|cystinuria (disease)|cystinuria, type non-I|cystinuria-lysinuria syndrome|cystinuria, type non-I, formerly|cystinuria, type II, formerly|cystinuria, type I|cystinuria, type III, formerly|cystinuria, type III		cystinuria (disease)									ICD10:E72.01|NCIT:C84664|OMIM:220100|MedDRA:10011778|DOID:9266|SCTID:85020001|HP:0003131|GARD:0006237|MESH:D003555|UMLS:C0010691|Orphanet:214|ICD10:E72.0														https://rarediseases.info.nih.gov/diseases/6237/cystinuria				owl:Class
MONDO:0014304	biolink:NamedThing	hereditary spastic paraplegia 61	A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	mondoexuq1wtf	ARL6IP1 autosomal recessive complex spastic paraplegia|SPG61|autosomal recessive spastic paraplegia 61|autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|autosomal recessive spastic paraplegia type 61|spastic paraplegia 61, autosomal recessive|hereditary spastic paraplegia type 61											Orphanet:401780|UMLS:C4511962|DOID:0110812|OMIM:615685|ICD10:G11.4|SCTID:726611001|UMLS:C3810294																		owl:Class
MONDO:0017372	biolink:NamedThing	congenital varicella syndrome	Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	mondoexuq1wtf	mother-to-child transmission of varicella syndrome|Varicella embryopathy|fetal varicella infection|fetal effects of chickenpox|Varicella virus antenatal infection|antenatal varicella virus infection|fetal effects of varicella zoster virus|fetal varicella zoster syndrome											Orphanet:291|SCTID:277644009|ICD9:771.2|UMLS:C0343560|GARD:0000045|NCIT:C116800|ICD10:P35.8														https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome				owl:Class
MONDO:0002956	biolink:NamedThing	skin cystic basal cell carcinoma		mondoexuq1wtf	skin cystic basal cell carcinoma|cystic basal cell carcinoma											UMLS:C1275193|DOID:4302|NCIT:C27537|SCTID:403912001																		owl:Class
MONDO:0008521	biolink:NamedThing	tarsal-carpal coalition syndrome	Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.	mondoexuq1wtf	tarsal carpal coalition syndrome|tarsal-carpal coalition syndrome|synostosis of talus and calcaneus with short stature|TCC											ICD10:Q74.8|Orphanet:1412|SCTID:702312009|GARD:0009225|DOID:0050789|ICD9:756.9|UMLS:C1861305|EFO:0008965|OMIM:186570														https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome				owl:Class
MONDO:0011160	biolink:NamedThing	autosomal recessive nonsyndromic deafness 15	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.	mondoexuq1wtf	deafness, autosomal recessive 72|deafness, autosomal recessive type 15|deafness, autosomal recessive 95|autosomal recessive deafness 95|DFNB72|DFNB15|DFNB95|GIPC3 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 72|autosomal recessive deafness 15|deafness, autosomal recessive 15|autosomal recessive nonsyndromic deafness type 15|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3											ICD10:H90.3|UMLS:C1866094|DOID:0110470|MESH:C566611|OMIM:601869																		owl:Class
MONDO:0005532	biolink:NamedThing	Crohn's colitis	Crohn's disease affecting the colon.	mondoexuq1wtf	Crohn colitis											DOID:0060192|ICD9:555.1|EFO:0005622|NCIT:C35211|ICD10:K50.1																		owl:Class
MONDO:0017323	biolink:NamedThing	hypocalcemic rickets	Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).	mondoexuq1wtf	calcium deficiency rickets|Calciopenic rickets											NCIT:C131421|Orphanet:289103|SCTID:722947004|UMLS:C4329608|UMLS:C4302195																		owl:Class
MONDO:0002635	biolink:NamedThing	periodontal disease	An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.	mondoexuq1wtf	periodontium disease|disease or disorder of periodontium|periodontium disorder|periodontal disease|periodontal disorder|disease of supporting structures of teeth|disease of periodontium|disorder of periodontium|periodontium disease or disorder											SCTID:2556008|NCIT:C63743|ICD10:K05.6|UMLS:C0031090|COHD:134398|DOID:3388|ICD9:523.8|MESH:D010510																		owl:Class
MONDO:0004231	biolink:NamedThing	spindle cell variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.	mondoexuq1wtf	metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant											NCIT:C40358|ONCOTREE:MASCC|UMLS:C1519487|DOID:7460																		owl:Class
MONDO:0006056	biolink:NamedThing	squamous cell breast carcinoma	A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.	mondoexuq1wtf	squamous cell carcinoma of breast|breast primary squamous cell carcinoma|squamous breast carcinoma|squamous carcinoma of breast|scc of breast|primary squamous cell carcinoma of breast|squamous cell breast carcinoma|breast squamous cell carcinoma|scc of the breast|metaplastic squamous cell carcinoma|squamous cell carcinoma of the breast|primary squamous cell breast carcinoma|primary squamous cell carcinoma of the breast|squamous carcinoma of the breast											ONCOTREE:MSCC|EFO:1000053|NCIT:C5177|UMLS:C1336079|DOID:5514																		owl:Class
MONDO:0001146	biolink:NamedThing	fourth cranial nerve palsy	A cranial nerve palsy that involves the trochlear nerve.	mondoexuq1wtf	fourth nerve palsy|cranial nerve palsy of trochlear nerve|trochlear nerve cranial nerve palsy|fourth or trochlear nerve palsy											DOID:10869|SCTID:20610004|ICD9:378.53|COHD:378439																		owl:Class
MONDO:0007002	biolink:NamedThing	trochlear nerve disease	A disease involving the trochlear nerve.	mondoexuq1wtf	IVth cranial nerve disorder|trochlear nerve disease or disorder|disease of trochlear nerve|trochlear nerve disorder|disease or disorder of trochlear nerve|superior oblique muscle innervation disorder|disorder of trochlear nerve|trochlear nerve disease|IVth nerve disorder											EFO:1001220|MedDRA:10074765|MESH:D020432|DOID:13864|NCIT:C78395|ICD9:378.53|ICD10:H49.1																		owl:Class
MONDO:0010314	biolink:NamedThing	polymicrogyria, bilateral perisylvian, X-linked		mondoexuq1wtf	BPPX|perisylvian syndrome, congenital bilateral|PMGX|polymicrogyria, bilateral perisylvian, X-linked|BPP											SCTID:438583008|OMIM:300388																		owl:Class
MONDO:0020340	biolink:NamedThing	bilateral perisylvian polymicrogyria		mondoexuq1wtf												GARD:0006011|Orphanet:98889|ICD10:Q04.3																		owl:Class
MONDO:0006647	biolink:NamedThing	anterior cerebral artery infarction	Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.	mondoexuq1wtf												DOID:3528|EFO:1000807|MESH:D020243|UMLS:C0751843																		owl:Class
MONDO:0002679	biolink:NamedThing	cerebral infarction	An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.	mondoexuq1wtf	cerebral, infarction|brain infarction of telencephalon|cerebral infarct|telencephalon brain infarction|CVA - cerebral infarction|cerebral ischemia|infarction, cerebral											MESH:D002544|DOID:3526|NCIT:C50486|SCTID:432504007|ICD10:I63.9|ICD9:433.21|ICD9:433.81|UMLS:C0007785|ICD9:433.31|ICD9:434.91|ICD10:I63|ICD9:433.01|COHD:443454																		owl:Class
MONDO:0010648	biolink:NamedThing	major affective disorder 2		mondoexuq1wtf	manic-depressive illness|MAFD2|bipolar affective disorder|major affective disorder 2|manic-depressive psychosis, X-linked|MAJOR affective disorder 2											DOID:0080221|MESH:C564108|OMIM:309200																		owl:Class
MONDO:0006817	biolink:NamedThing	juxtacortical osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.	mondoexuq1wtf	PAOS|parosteal osteogenic sarcoma|parosteal osteosarcoma|juxtacortical osteogenic sarcoma|juxtacortical osteosarcoma											NCIT:C8969|MESH:D018217|UMLS:C0206642|ICDO:9192/3|ONCOTREE:PAOS|EFO:1001000|DOID:3373																		owl:Class
MONDO:0002628	biolink:NamedThing	peripheral osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	mondoexuq1wtf	bone surface (peripheral) osteosarcoma|peripheral osteosarcoma|surface osteosarcoma											DOID:3374|UMLS:C1332591|NCIT:C7134																		owl:Class
MONDO:0015099	biolink:NamedThing	unilateral hemispheric polymicrogyria		mondoexuq1wtf												ICD10:Q04.3|Orphanet:101071																		owl:Class
MONDO:0024340	biolink:NamedThing	retinal neuroblastoma	A neuroblastoma arising from the retina.	mondoexuq1wtf	retinal neuroblastoma|neuroblastoma of the retina|retina neuroblastoma|neuroblastoma of retina											NCIT:C6956																		owl:Class
MONDO:0021231	biolink:NamedThing	retina neoplasm	A neoplasm (disease) that involves the retina.	mondoexuq1wtf	tumor of the retina|neoplasm of retina|retinal tumor|neoplasm of the retina|retinal neoplasm|retina tumor|tumor of retina|retina neoplasm (disease)											NCIT:C4800|EFO:1000509																		owl:Class
MONDO:0005262	biolink:NamedThing	central nervous system cyst	A congenital or acquired cyst that is present in the central nervous system.	mondoexuq1wtf	Rathke's cleft cysts|Rathke cleft cysts|central nervous system cyst|suprasellar cyst|central nervous system cyst (disease)|cyst, suprasellar|Rathkes cleft cysts|CNS cyst|cysts, Rathke cleft|cyst of the Central nervous system|cyst of the CNS|cleft cysts, Rathke's|cyst of Central nervous system|cysts, central nervous system|cyst of CNS|cysts, suprasellar|suprasellar cysts		central nervous system cyst (disease)									HP:0030724|MESH:D020863|UMLS:C0349606|SCTID:277333006|NCIT:C4657|EFO:0003760																		owl:Class
MONDO:0032752	biolink:NamedThing	developmental and epileptic encephalopathy, 75		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75|DEE75|EIEE75|epileptic encephalopathy, early infantile, 75											OMIM:618437																		owl:Class
MONDO:0037002	biolink:NamedThing	benign phyllodes tumor	A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.	mondoexuq1wtf	phyllodes tumor, benign|benign phyllodes neoplasm|benign phyllodes tumor|benign cystosarcoma phyllodes											NCIT:C4274|ICDO:9020/0																		owl:Class
MONDO:0012004	biolink:NamedThing	parathyroid gland carcinoma	Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.	mondoexuq1wtf	parathyroid cancer|parathyroid carcinoma|PRTC|parathyroid gland carcinoma|parathyroid gland neoplasm|carcinoma of parathyroid gland|adenocarcinoma of the parathyroid|parathyroid adenocarcinoma|carcinoma of parathyroid|cancer of parathyroid gland|cancer of the parathyroid gland|malignant neoplasm of the parathyroid|parathyroid gland adenocarcinoma|parathyroid gland cancer|adenocarcinoma of the parathyroid gland|carcinoma of the parathyroid|adenocarcinoma of parathyroid|carcinoma of the parathyroid gland|adenocarcinoma of parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid neoplasm											EFO:1000456|NCIT:C4906|OMIM:608266|SCTID:255037004|ONCOTREE:PTHC|Orphanet:143|GARD:0007329|ICD10:C75.0|ICD9:194.1|DOID:1540																		owl:Class
MONDO:0016592	biolink:NamedThing	non-hereditary degenerative ataxia		mondoexuq1wtf												Orphanet:247239																		owl:Class
MONDO:0017160	biolink:NamedThing	behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.	mondoexuq1wtf	bv-FTD											UMLS:C4011788|SCTID:716994006|Orphanet:275864|ICD10:G31.0																		owl:Class
MONDO:0019461	biolink:NamedThing	B-cell prolymphocytic leukemia	A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.	mondoexuq1wtf	B-PLL|B-cell prolymphocytic leukemia|BPLL|B prolymphocytic leukemia											ONCOTREE:BPLL|SCTID:277619001|EFO:1000102|MESH:D054403|ICDO:9833/3|Orphanet:86852|UMLS:C0475801|ICD10:C91.3|NCIT:C4753																		owl:Class
MONDO:0017595	biolink:NamedThing	aggressive B-cell non-Hodgkin lymphoma		mondoexuq1wtf	aggressive B-cell NHL											Orphanet:300846																		owl:Class
MONDO:0018573	biolink:NamedThing	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		mondoexuq1wtf												ICD10:Q87.1|UMLS:CN237586|Orphanet:436144																		owl:Class
MONDO:0021487	biolink:NamedThing	benign neoplasm of choroid	A benign neoplasm that involves the optic choroid.	mondoexuq1wtf	benign choroid neoplasm|benign tumor of the choroid|benign choroid tumor|benign neoplasm of the choroid|benign tumor of choroid|optic choroid benign neoplasm											ICD9:224.6|NCIT:C3625|UMLS:C0154028|SCTID:92059004																		owl:Class
MONDO:0002574	biolink:NamedThing	prostate embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.	mondoexuq1wtf	embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|embryonal rhabdomyosarcoma (disease) of prostate gland|prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate											NCIT:C5525|DOID:3251|UMLS:C1335508																		owl:Class
MONDO:0006389	biolink:NamedThing	prostate rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.	mondoexuq1wtf	rhabdomyosarcoma of prostate|prostate gland rhabdomyosarcoma (disease)|prostate gland rhabdomyosarcoma|prostate rhabdomyosarcoma|rhabdomyosarcoma of the prostate|rhabdomyosarcoma (disease) of prostate gland											EFO:1000498|DOID:3252|NCIT:C5522|UMLS:C1335518																		owl:Class
MONDO:0002801	biolink:NamedThing	colonic pseudo-obstruction	Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.	mondoexuq1wtf	acute colonic pseudo-obstruction|Ogilvie's syndrome|ACPO|acute colonic ileus|primary chronic pseudo-obstruction of colon											SCTID:35065006|UMLS:C0009377|ICD9:564.89|MESH:D003112|EFO:1000871|DOID:3876|GARD:0007248																		owl:Class
MONDO:0002802	biolink:NamedThing	functional colonic disease	Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.	mondoexuq1wtf												MESH:D003109|UMLS:C0009374|DOID:3877																		owl:Class
MONDO:0025270	biolink:NamedThing	toxoplasmosis, non-human animal	Acquired infection of non-human animals by organisms of the genus toxoplasma.	mondoexuq1wtf	animal toxoplasmosis|Toxoplasmoses, animal|animal Toxoplasmoses											UMLS:C0040559|MESH:D014124																		owl:Class
MONDO:0007652	biolink:NamedThing	gastric mucosal hypertrophy	MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.	mondoexuq1wtf	giant hypertrophy of the gastric mucosa|hypertrophic gastropathy|giant rugal hypertrophy of stomach|Menetrier disease|Gastroenteropathy, protein losing|familial giant hypertrophic gastritis|Ménétrier disease|giant hypertrophic gastritis|hypertrophic gastritis|giant hypertrophic gastropathy|Menetrier's disease|gastritis, familial giant hypertrophic|MENETRIER disease|hypoproteinemic hypertrophic gastropathy											ICD9:535.21|UMLS:C0017155|SCTID:60002000|GARD:0002436|ICD9:535.20|NCIT:C67277|DOID:8757|ICD9:535.2|OMIM:137280|ICD10:K29.6|MedDRA:10017807|COHD:201059|Orphanet:2494|EFO:1000946|MedDRA:10017868|MESH:D005758																		owl:Class
MONDO:0007627	biolink:NamedThing	focal facial dermal dysplasia type I	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.	mondoexuq1wtf	Brauer syndrome|focal facial dermal dysplasia type 1|bitemporal aplasia cutis congenita|FFDD, type 1|FFDD1|hereditary symmetrical aplastic nevi of temples|focal facial dermal dysplasia 1, Brauer type|FFDD type I											GARD:0008416|UMLS:CN776929|Orphanet:79133|OMIM:136500|ICD10:Q82.8																		owl:Class
MONDO:0020163	biolink:NamedThing	canthal anomaly		mondoexuq1wtf												Orphanet:98572																		owl:Class
MONDO:0021485	biolink:NamedThing	benign neoplasm of iris	A benign neoplasm that involves the iris.	mondoexuq1wtf	benign iris neoplasm|iris benign neoplasm|benign neoplasm of the iris|benign tumor of the iris|benign tumor of iris|benign iris tumor											SCTID:189151003|NCIT:C4555|ICD9:224.0|UMLS:C0346374																		owl:Class
MONDO:0022762	biolink:NamedThing	chromosome 4 short arm deletion		mondoexuq1wtf	partial monosomy 4p|4p deletion|deletion 4p|4p monosomy|monosomy 4p|chromosome 4p deletion											MESH:C537637|ICD10:Q93.3|GARD:0006090																		owl:Class
MONDO:0013753	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2P	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot-Marie-Tooth disease, axonal, type 2P|CMT 2G|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, type 2G|Charcot Marie Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease type 2P|CMT2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth neuropathy, type 2P|Charcot-Marie-Tooth neuropathy type 2P|LRSAM1 Charcot-Marie-Tooth disease|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth neuropathy, type 2G|CMT2G|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, type 2G, formerly											Orphanet:99941|OMIM:614436|UMLS:C3280797|GARD:0012435|OMIM:608591|DOID:0110169|UMLS:C4304674|GARD:0009195|ICD10:G60.0|SCTID:719511005|UMLS:C1837805|Orphanet:300319														https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p				owl:Class
MONDO:0009060	biolink:NamedThing	cystic disease of lung		mondoexuq1wtf	cystic disease of lung											UMLS:C1384901|OMIM:219600|MESH:C563237																		owl:Class
MONDO:0019632	biolink:NamedThing	Lyme disease	Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.	mondoexuq1wtf	Lyme disease|Borreliella burgdorferi infectious disease|Lyme borreliosis|neurological Lyme disease|Borreliella burgdorferi disease or disorder|neuroborreliosis|Borreliella burgdorferi caused disease or disorder|Bannwarth syndrome|Borrelia burgdorferi infection|Lyme neuroborreliosis|Borrelia|Bannworth's syndrome											ICD10:A69.2|COHD:440638|NCIT:C45161|ICD9:088.81|EFO:0008510|SCTID:48982009|DOID:11729|ICD10:A69.20|UMLS:C0024198|Orphanet:91546|MESH:D008193|MedDRA:10025169|GARD:0012073																		owl:Class
MONDO:0020678	biolink:NamedThing	sensorineural hearing loss disorder	Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).	mondoexuq1wtf	SNHL|neurosensory deafness|sensorineural deafness|sensorineural hearing loss											SCTID:60700002|HP:0000407|NCIT:C26739																		owl:Class
MONDO:0009128	biolink:NamedThing	dwarfism, intellectual disability, and eye abnormality		mondoexuq1wtf	dwarfism, intellectual disability, and eye abnormality|Mollica syndrome|dwarfism, mental retardation, and eye abnormality											OMIM:223540|Orphanet:2650|UMLS:C0796076|MESH:C535809																		owl:Class
MONDO:0003122	biolink:NamedThing	striatonigral degeneration	A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.	mondoexuq1wtf												ICD9:333.0|MESH:D020955|ICD10:G23.2|NCIT:C125695|DOID:4751|UMLS:C0270733|SCTID:29618004|OMIMPS:271930																		owl:Class
MONDO:0020282	biolink:NamedThing	metabolic disease with macular cherry-red spot		mondoexuq1wtf												Orphanet:98714|UMLS:CN207085																		owl:Class
MONDO:0021064	biolink:NamedThing	jugulotympanic paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.	mondoexuq1wtf	glomus jugulare neoplasm|parasympathetic paraganglioma of basicranium|Paraganglioma - glomus jugulare|jugulotympanic paraganglioma|neoplasm of glomus jugulare|Glomus tumor|neoplasm of the glomus jugulare|tumor of the glomus jugulare|glomus jugulare tumor|jugular paraganglioma|tumor of glomus jugulare|basicranium parasympathetic paraganglioma											ICDO:8690/1|GARD:0010599|SCTID:127030001|NCIT:C3061|UMLS:C0017671|ICD9:239.7																		owl:Class
MONDO:0009923	biolink:NamedThing	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.	mondoexuq1wtf	steroid 5-alpha-reductase deficiency|PPSH|5 Alpha steroid reductase 2 deficiency|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|familial incomplete Male pseudohermaphroditism, type 2|5-alpha reductase deficiency|pseudovaginal perineoscrotal hypospadias|46,XY DSD due to 5-alpha-reductase 2 deficiency|micropenis											GARD:0005680|Orphanet:753|NCIT:C98699|OMIM:264600|MESH:C535830|ICD10:Q56.1|MedDRA:10000029|SCTID:57514000																		owl:Class
MONDO:0005706	biolink:NamedThing	coccidioidomycosis	A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.	mondoexuq1wtf	primary extrapulmonary coccidioidomycosis|California disease|Coccidioides immitis disease or disorder|Valley fever|desert fever|Coccidioides infection|Coccidioides immitis caused disease or disorder|Coccidioides immitis infectious disease|desert rheumatism|San Joaquin valley fever											COHD:437217|EFO:0007211|MESH:D003047|Orphanet:228123|MedDRA:10009825|DOID:13450|UMLS:CN201384|UMLS:C0700644|ICD10:B38.1|ICD10:B38.2|ICD10:B38.3|ICD9:114|UMLS:C0009186|ICD10:B38.7|ICD10:B38.8|ICD9:114.1|SCTID:23247008|ICD10:B38.4|ICD9:114.9|NCIT:C84642|ICD10:B38.0|ICD10:B38.9|ICD10:B38|GARD:0009525																		owl:Class
MONDO:0001507	biolink:NamedThing	viral labyrinthitis	An labyrinthitis caused by infection with Viruses.	mondoexuq1wtf	Viruses caused labyrinthitis|epidemic vertigo (finding)|epidemic vertigo|Viruses labyrinthitis											DOID:12357|UMLS:C0155508|COHD:75555|SCTID:409711008|ICD9:386.35																		owl:Class
MONDO:0008861	biolink:NamedThing	3-methylcrotonyl-CoA carboxylase 1 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.	mondoexuq1wtf	3 Methylcrotonyl-CoA carboxylase 1 deficiency|3-Methylcrotonyl-Coa carboxylase 1 deficiency|3-MCC deficiency|Mccd type 1|3-Methylcrotonyl-Coa carboxylase deficiency|3 alpha methylcrotonylglycinuria 1|deficiency of methylcrotonoyl-Coa carboxylase|Bmcc deficiency|3 Alpha methylcrotonylglycinuria 1|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria 1|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|3-methylcrotonylglycinuria|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|3 methylcrotonylglycinuria|MCC deficiency|methylcrotonoyl-CoA carboxylase 1 deficiency|3-methylcrotonyl-CoA carboxylase 1 deficiency|methylcrotonylglycinuria type 1|3-METHYLCROTONYL-CoA carboxylase 1 deficiency|MCCD type 1|methylcrotonylglycinuria type I|Methylcrotonyl-Coa carboxylase deficiency|MCC1D|Mcc1 deficiency|3-methylcrotonylglycinuria I|MCC 1 deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|MCC1 deficiency										MONDO:0022326	UMLS:CN028786|MESH:C535308|GARD:0005665|OMIM:210200|DOID:0080579														https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency				owl:Class
MONDO:0013752	biolink:NamedThing	hypoplastic left heart syndrome 2	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.	mondoexuq1wtf	hypoplastic left heart syndrome type 2|hypoplastic left heart syndrome 2|hypoplastic left heart syndrome caused by mutation in NKX2-5|HLHS2|NKX2-5 hypoplastic left heart syndrome											OMIM:614435|MedDRA:10021076|UMLS:C3280795|ICD10:Q23.4																		owl:Class
MONDO:0008738	biolink:NamedThing	aganglionosis, total intestinal	A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease.	mondoexuq1wtf	aganglionosis, total intestinal|total intestinal aganglionosis											NCIT:C101074|OMIM:202550																		owl:Class
MONDO:0003698	biolink:NamedThing	penis verrucous carcinoma	A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.	mondoexuq1wtf	penis verrucous carcinoma|verrucous penile carcinoma|squamous carcinoma of the penis, verrucous type|verrucous penile squamous cell carcinoma|squamous carcinoma of penis, verrucous type|verrucous squamous carcinoma of the penis|verrucous carcinoma of penis|verrucous squamous carcinoma of penis|verrucous carcinoma of the penis|verrucous penile squamous carcinoma											DOID:5908|UMLS:C1336955|ONCOTREE:VPSCC|NCIT:C6982																		owl:Class
MONDO:0004433	biolink:NamedThing	papillary carcinoma of the penis	A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.	mondoexuq1wtf	papillary carcinoma of penis|papillary squamous carcinoma of the penis|papillary penile carcinoma|papillary penile squamous carcinoma|papillary squamous carcinoma of penis|penis papillary carcinoma|squamous carcinoma of penis, papillary type|squamous carcinoma of the penis, papillary type|papillary carcinoma of the penis											UMLS:C1335322|NCIT:C6983|DOID:8013																		owl:Class
MONDO:0010039	biolink:NamedThing	congenital heart defect-round face-developmental delay syndrome	Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	mondoexuq1wtf	Sonoda syndrome|round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development											SCTID:715987000|OMIM:270460|GARD:0004905|Orphanet:1355|ICD10:Q87.8|UMLS:C0796162|MESH:C536680																		owl:Class
MONDO:0022990	biolink:NamedThing	diphallus rachischisis imperforate anus		mondoexuq1wtf												GARD:0001873														https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus				owl:Class
MONDO:0012361	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 5		mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, 5|SLEB5											OMIM:609903																		owl:Class
MONDO:0021516	biolink:NamedThing	benign neoplasm of glottis	A benign neoplasm that involves the glottis.	mondoexuq1wtf	benign tumor of glottis|benign glottis tumor|glottis benign neoplasm|benign tumor of the glottis|benign neoplasm of the glottis|benign glottis neoplasm											UMLS:C0347234|NCIT:C4605|SCTID:92123007																		owl:Class
MONDO:0006217	biolink:NamedThing	gallbladder adenosquamous carcinoma	A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.	mondoexuq1wtf	adenosquamous gallbladder carcinoma|GBASC|adenosquamous carcinoma of the gallbladder|gall bladder adenosquamous carcinoma|adenosquamous carcinoma of gallbladder|gallbladder adenosquamous cancer|gallbladder adenosquamous carcinoma											NCIT:C7356|DOID:5627|UMLS:C1333741|ONCOTREE:GBASC|EFO:1000264																		owl:Class
MONDO:0001930	biolink:NamedThing	acute cholangitis	Cholangitis that is both sudden in onset and of a relatively short duration.	mondoexuq1wtf	acute cholangitis|cholangitis, acute											SCTID:6215006|DOID:14271|NCIT:C35334|UMLS:C0267917																		owl:Class
MONDO:0010139	biolink:NamedThing	isolated thyroid-stimulating hormone deficiency	Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.	mondoexuq1wtf	isolated thyrotropin deficiency|thyroid-stimulating hormone deficiency|thyroid-stimulating hormone, deficiency of|hypothyroidism, congenital, nongoitrous, 4|hypothyroidism, congenital, nongoitrous, type 4|thyrotropin, biologically inactive|thyrotropin deficiency, isolated|congenital nongoitrous hypothryoidism 4|isolated TSH deficiency|pituitary cretinism|TSH deficiency|CHNG4|congenital nongoitrous hypothyroidism 4											UMLS:C4082174|DOID:0070123|GARD:0010129|ICD10:E03.1|OMIM:275100|UMLS:C0271789|Orphanet:90674																		owl:Class
MONDO:0019824	biolink:NamedThing	non-acquired pituitary hormone deficiency		mondoexuq1wtf						Editor note: consider merging with familial hypopituitarism						ICD10:E23.0|Orphanet:95488																		owl:Class
MONDO:0017201	biolink:NamedThing	Spasmus nutans	Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.	mondoexuq1wtf	Spasmus nutans|Spasmus nutans (disease)		Spasmus nutans (disease)									HP:0010533|Orphanet:279882|UMLS:C1527306|ICD10:F98.4|MedDRA:10059593|SCTID:400948003																		owl:Class
MONDO:0013207	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 7		mondoexuq1wtf	FECD7|corneal dystrophy, Fuchs endothelial, 7|Fcd4 locus|corneal dystrophy, Fuchs endothelial, late-onset											UMLS:C2750447|OMIM:613271																		owl:Class
MONDO:0008741	biolink:NamedThing	PAGOD syndrome	PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	mondoexuq1wtf	agonadism with multiple internal malformations|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|PAGOD syndrome|Kennerknecht sorgo Oberhoffer syndrome											GARD:0003086|Orphanet:991|OMIM:202660|UMLS:C1859967|MESH:C537018|SCTID:722132007|ICD10:Q87.8																		owl:Class
MONDO:0017413	biolink:NamedThing	Reunion island Larsen syndrome		mondoexuq1wtf	RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome											EFO:0002319|Orphanet:294049|UMLS:CN203163|ICD10:Q74.8																		owl:Class
MONDO:0010814	biolink:NamedThing	chondrodysplasia-pseudohermaphroditism syndrome	Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	mondoexuq1wtf	chondrodysplasia-pseudohermaphroditism syndrome|Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-disorder of sex development syndrome											SCTID:720851007|MESH:C536123|ICD10:Q87.1|OMIM:600092|UMLS:C1838654|DOID:0060644|Orphanet:1422																		owl:Class
MONDO:0007834	biolink:NamedThing	islet cell adenomatosis	A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.	mondoexuq1wtf	Insulinomatosis and diabetes mellitus|Nesidioblastosis|INSDM|INSULINOMATOSIS and diabetes mellitus|islet cell adenomatosis											SCTID:274944000|NCIT:C4375|MESH:C563258|OMIM:147630|UMLS:C1578917																		owl:Class
MONDO:0003693	biolink:NamedThing	clear cell cystadenofibroma	A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.	mondoexuq1wtf	clear cell cystadenofibroma											NCIT:C8988|UMLS:C1377853|DOID:5895																		owl:Class
MONDO:0042961	biolink:NamedThing	sacral hemangiomas multiple congenital abnormalities		mondoexuq1wtf												MESH:C537222|UMLS:C2931443|GARD:0000317																		owl:Class
MONDO:0020661	biolink:NamedThing	undifferentiated round cell sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.	mondoexuq1wtf	undifferentiated round cell sarcoma											NCIT:C121799																		owl:Class
MONDO:0011071	biolink:NamedThing	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.	mondoexuq1wtf												GARD:0010352|ICD10:D69.4|SCTID:725034002|MESH:C563324|UMLS:C1832388|Orphanet:71290																		owl:Class
MONDO:0014888	biolink:NamedThing	MIRAGE syndrome	An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.	mondoexuq1wtf	mirage|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy											Orphanet:494433|NCIT:C147530|UMLS:C4284088|OMIM:617053|GARD:0013108																		owl:Class
MONDO:0007023	biolink:NamedThing	Yersinia infectious disease	Infections with bacteria of the genus yersinia.	mondoexuq1wtf	infection, Yersinia|Yersinia infection|infections, Yersinia|yersiniosis|Yersinia <bacteria> infection|infections, Yersinia <bacteria>											EFO:1001245|MESH:D015009|SCTID:83436008|NCIT:C128337																		owl:Class
MONDO:0009486	biolink:NamedThing	autosomal recessive Kenny-Caffey syndrome	An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.	mondoexuq1wtf	Kenny-Caffey syndrome, autosomal recessive|Kenny-Caffey syndrome type 1|KCS1|Kenny-Caffey syndrome, type 1|Kcs											UMLS:C1855648|Orphanet:93324|NCIT:C130992|ICD10:Q87.1|GARD:0008367|MESH:C537021|OMIM:244460														https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1				owl:Class
MONDO:0012853	biolink:NamedThing	Fontaine progeroid syndrome	A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	mondoexuq1wtf	craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|GCM syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|progeroid syndrome Petty type|Fontaine progeroid syndrome|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|progeroid syndrome, congenital, Petty type|Petty syndrome|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|GCMS|Gorlin-Chaudhry-Moss syndrome|Gorlin Chaudhry Moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Petty-Laxova-Wiedemann syndrome|FPS|Petty Laxova Wiedemann syndrome|progeroid syndrome, Petty type|progeroid syndrome congenital Petty type											GARD:0004497|MESH:C537290|ICD9:759.89|UMLS:C2931653|GARD:0000066|SCTID:205800003|ICD10:Q87.0|ICD10:E34.8|OMIM:612289|Orphanet:2095|OMIM:233500														https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type				owl:Class
MONDO:0003550	biolink:NamedThing	esophageal adenosquamous carcinoma	An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.	mondoexuq1wtf	esophageal adenosquamous cancer|esophagus adenosquamous carcinoma|esophageal adenosquamous carcinoma											UMLS:C2063886|NCIT:C27421|DOID:5625																		owl:Class
MONDO:0016730	biolink:NamedThing	gangliocytoma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.	mondoexuq1wtf	GNC											ICDO:9492/0|MESH:D005729|Orphanet:251937|DOID:2426|GARD:0010638|ICD10:D36.1|NCIT:C6934|ONCOTREE:GNC|UMLS:CN201978														https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma				owl:Class
MONDO:0010589	biolink:NamedThing	Aarskog-Scott syndrome, X-linked	Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.	mondoexuq1wtf	faciogenital dysplasia with attention Deficit-hyperactivity disorder|AAS|Aarskog Scott syndrome|MRXS16, included|Scott Aarskog syndrome|FGDY|Aarskog-Scott syndrome|facio-digito-genital dysplasia|FGD|mental retardation, X-linked, syndromic 16|mental retardation, X-linked, syndromic 16, included|faciodigitogenital syndrome, recessive|faciodigitogenital syndrome|Aarskog-like syndrome|Aarskog syndrome|faciogenital dysplasia|Aarskog disease|Aarskog syndrome, X-linked											NCIT:C129720|SCTID:14921002|GARD:0004775|ICD10:Q87.1|ICD9:759.89|MedDRA:10067148|OMIM:305400|Orphanet:915|MESH:C535331																		owl:Class
MONDO:0003600	biolink:NamedThing	cutaneous liposarcoma	A malignant adipose tissue neoplasm of the skin.	mondoexuq1wtf	cutaneous liposarcoma|liposarcoma of zone of skin|liposarcoma of the skin|skin liposarcoma|liposarcoma of skin|zone of skin liposarcoma											UMLS:C1333175|NCIT:C5615|DOID:5712																		owl:Class
MONDO:0007993	biolink:NamedThing	microgastria-limb reduction defect syndrome	This syndrome is characterised by the association of microgastria with a limb reduction defect.	mondoexuq1wtf	microgastria limb reduction defect|congenital microgastria and limb reduction defects|microgastria-limb reduction defects association|MLRD											GARD:0003640|OMIM:156810|ICD10:Q87.8|Orphanet:2538|UMLS:C1834929|MESH:C537554																		owl:Class
MONDO:0006208	biolink:NamedThing	fallopian tube serous adenocarcinoma	A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.	mondoexuq1wtf	fallopian tube serous adenocarcinoma											DOID:5598|NCIT:C40099|UMLS:C1517124|EFO:1000253																		owl:Class
MONDO:0005845	biolink:NamedThing	meningoencephalitis	Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.	mondoexuq1wtf												UMLS:C0025309|EFO:0007364|MESH:D008590|ICD10:A69.22|ICD10:G04|DOID:10554|SCTID:7125002|NCIT:C34813																		owl:Class
MONDO:0100312	biolink:NamedThing	vestibular ataxia	Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0015941	biolink:NamedThing	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	Finucane Kurtz Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism|Finucane-Kurtz-Scott syndrome											UMLS:CN200532|GARD:0002178|Orphanet:1825|ICD10:Q87.0|SCTID:766870005														https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism				owl:Class
MONDO:0017831	biolink:NamedThing	mild Canavan disease	Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.	mondoexuq1wtf	juvenile Canavan disease											ICD10:E75.2|Orphanet:314918																		owl:Class
MONDO:0017922	biolink:NamedThing	deafness-onychodystrophy syndrome	Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	mondoexuq1wtf												UMLS:CN204041|ICD10:Q87.8|Orphanet:3231																		owl:Class
MONDO:0010395	biolink:NamedThing	phosphoribosylpyrophosphate synthetase superactivity	Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).	mondoexuq1wtf	PRPS1 superactivity|PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity|gout, PRPS-related											Orphanet:3222|UMLS:C1970827|MESH:C567064|DOID:0111260|ICD10:E79.8|OMIM:300661|SCTID:723454008																		owl:Class
MONDO:0013495	biolink:NamedThing	autosomal recessive congenital ichthyosis 8	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.	mondoexuq1wtf	ARCI8|autosomal recessive congenital ichthyosis type 8|ichthyosis, lamellar, 4|ichthyosis, lamellar, 4, formerly|ichthyosis, congenital, autosomal recessive 8|ichthyosis, congenital, autosomal recessive type 8|lamellar ichthyosis, late-onset|late-onset lamellar ichthyosis|lamellar ichthyosis 4											DOID:0060717|OMIM:613943|ICD10:Q80.2																		owl:Class
MONDO:0032815	biolink:NamedThing	mitochondrial DNA depletion syndrome 17		mondoexuq1wtf	MTDPS17|MITOCHONDRIAL DNA DEPLETION SYNDROME 17											OMIM:618567																		owl:Class
MONDO:0020629	biolink:NamedThing	microcephaly, growth restriction and increased sister chromatid exchange		mondoexuq1wtf	MGRISCE											OMIMPS:210900																		owl:Class
MONDO:0009045	biolink:NamedThing	cataract-nephropathy-encephalopathy syndrome	Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.	mondoexuq1wtf	congenital cataracts, renal tubular necrosis and encephalopathy in two sisters|crome syndrome											ICD10:Q87.8|SCTID:722381004|OMIM:218900|MESH:C536216|Orphanet:1380|UMLS:C0795914|GARD:0001614																		owl:Class
MONDO:0033187	biolink:NamedThing	combined oxidative phosphorylation defect type 29		mondoexuq1wtf												Orphanet:478029																		owl:Class
MONDO:0014397	biolink:NamedThing	combined oxidative phosphorylation defect type 20	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.	mondoexuq1wtf	VARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in VARS2|combined oxidative phosphorylation deficiency type 20|combined oxidative phosphorylation deficiency 20|COXPD20											DOID:0111478|ICD10:G31.8|OMIM:615917|Orphanet:420728|UMLS:C4014660																		owl:Class
MONDO:0011376	biolink:NamedThing	ventricular fibrillation, paroxysmal familial, type 1		mondoexuq1wtf	ventricular fibrillation, paroxysmal familial, 1|ventricular fibrillation during myocardial infarction, susceptibility to|ventricular fibrillation, paroxysmal familial, type 1|IVF|VF1											OMIM:603829|MESH:C567851|SCTID:233915000|ICD10:I49.0|UMLS:C2751898																		owl:Class
MONDO:0020596	biolink:NamedThing	mucin-producing carcinoma		mondoexuq1wtf	mucin-producing carcinoma											NCIT:C27825																		owl:Class
MONDO:0022932	biolink:NamedThing	Davenport-Donlan syndrome	An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis.	mondoexuq1wtf	dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis|Davenport Donlan syndrome					Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579						MESH:C535988|UMLS:C2931076|GARD:0001672|Orphanet:3215														https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome				owl:Class
MONDO:0021667	biolink:NamedThing	neuralgia	A pain disorder characterize by pain in the distribution of a nerve or nerves	mondoexuq1wtf	pain, nerve|paroxysmal nerve pain|paroxysmal nerve pains|neuralgia|pain, neuropathic											MESH:D009437|ICD9:729.2|SCTID:16269008																		owl:Class
MONDO:0017401	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, left dominant form		mondoexuq1wtf	familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form											ICD10:I42.8|Orphanet:293888|UMLS:CN203145																		owl:Class
MONDO:0006619	biolink:NamedThing	viral exanthem	A virus-induced exanthem	mondoexuq1wtf												EFO:1000776|COHD:140020|DOID:8672|SCTID:49882001|ICD9:057.9|ICD9:057.8|UMLS:C0153062																		owl:Class
MONDO:0018042	biolink:NamedThing	immunodeficiency syndrome with abnormal pigmentation		mondoexuq1wtf	immunodeficiency syndrome with hypopigmentation											Orphanet:331249|UMLS:CN204283																		owl:Class
MONDO:0006980	biolink:NamedThing	struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).	mondoexuq1wtf	struma ovarii|struma ovarii NOS (morphologic abnormality)|struma ovarii (morphologic abnormality)											UMLS:C0038478|MESH:D013330|DOID:2640|EFO:1001192|ICDO:9090/0|NCIT:C7468																		owl:Class
MONDO:0002372	biolink:NamedThing	ovarian monodermal and highly specialized teratoma	A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.	mondoexuq1wtf	ovarian germ cell monodermal and highly specialized teratoma|ovarian monodermal and highly specialized teratoma											DOID:2641|NCIT:C8113|UMLS:C0280134																		owl:Class
MONDO:0002892	biolink:NamedThing	skull base chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..	mondoexuq1wtf	skull base chordoma|chordoma of the skull base|chordoma of skull base											DOID:4151|UMLS:C1335975|NCIT:C5453																		owl:Class
MONDO:0008978	biolink:NamedThing	chordoma	Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.	mondoexuq1wtf	CHDM|chordoma (disease)|chordoma|notochordal sarcoma|chordoma, susceptibility to|notochordoma|susceptibility to chordoma|chordoma, malignant		chordoma (disease)									ONCOTREE:CHDM|ICDO:9370/3|UMLS:C0008487|Orphanet:178|ICD10:C76.7|HP:0010762|GARD:0001303|MESH:D002817|NCIT:C2947|MedDRA:10008747|OMIM:215400|DOID:3302																		owl:Class
MONDO:0000167	biolink:NamedThing	Huntington disease and related disorders	A grouping for Huntington disease and similar diseases.	mondoexuq1wtf												DC:0000649																		owl:Class
MONDO:0019075	biolink:NamedThing	Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	mondoexuq1wtf												ICD10:Q87.8|Orphanet:69737																		owl:Class
MONDO:0011099	biolink:NamedThing	human HOXA1 syndromes	Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.	mondoexuq1wtf	Athabaskan brainstem dysgenesis|Bosley-Salih-Alorainy syndrome|Human HOXA1 syndromes|Athabaskan brainstem dysgenesis syndrome|Navajo brainstem syndrome|Athabascan brainstem dysgenesis syndrome|ABDS|BSAS|Bosley Salih Alorainy syndrome|ABSD											UMLS:C1832215|Orphanet:69739|GARD:0008333|OMIM:601536|DOID:0050682|SCTID:720518006														https://github.com/monarch-initiative/mondo/issues/1377				owl:Class
MONDO:0009518	biolink:NamedThing	leprosy, susceptibility to, 3	Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.	mondoexuq1wtf	TLR2 leprosy|leprosy caused by mutation in TLR2|susceptibility to leprosy 3|leprosy, susceptibility to, 3|leprosy, susceptibility to, type 3|LPRS3											OMIM:246300																		owl:Class
MONDO:0033201	biolink:NamedThing	deafness, autosomal recessive 57		mondoexuq1wtf	DFNB57|deafness, autosomal recessive 57											UMLS:CN248511|DOID:0111635|OMIM:618003																		owl:Class
MONDO:0017711	biolink:NamedThing	pancreatic colipase deficiency		mondoexuq1wtf												Orphanet:309108|ICD9:277.89|ICD10:K90.3|SCTID:69478001|UMLS:C0268241																		owl:Class
MONDO:0013700	biolink:NamedThing	pancreatic triacylglycerol lipase deficiency	An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.	mondoexuq1wtf	lipase and colipase, deficiency of|PL deficiency|colipase, congenital absence of pancreatic|pancreatic lipase deficiency|PNLIPD|lipase, congenital absence of pancreatic|pancreatic triglyceride lipase deficiency|pancreatic colipase deficiency|lipase and colipase, congenital absence of pancreatic											UMLS:C0268240|Orphanet:309031|ICD9:277.89|SCTID:78960005|ICD10:K90.3|OMIM:614338|NCIT:C129030																		owl:Class
MONDO:0012421	biolink:NamedThing	autosomal recessive nonsyndromic deafness 44	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|deafness, autosomal recessive 44|autosomal recessive nonsyndromic deafness type 44|autosomal recessive deafness 44|ADCY1 autosomal recessive nonsyndromic deafness|DFNB44|deafness, autosomal recessive type 44											ICD10:H90.3|MESH:C565716|OMIM:610154|UMLS:C1857809|DOID:0110501																		owl:Class
MONDO:0030991	biolink:NamedThing	bile acid conjugation defect 1		mondoexuq1wtf	BACD1											OMIM:619232																		owl:Class
MONDO:0009603	biolink:NamedThing	3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.	mondoexuq1wtf	3-hydroxyisobutyryl-CoA hydrolase deficiency|HIBCH deficiency|neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|methacrylic aciduria|valine metabolic defect|methacrylic acid toxicity|beta-hydroxyisobutyryl Coa deacylase deficiency|HIBCHD|Beta-hydroxyisobutyryl-CoA deacylase deficiency											OMIM:250620|SCTID:722488009|Orphanet:88639|ICD10:E71.1|MESH:C562803|GARD:0013202																		owl:Class
MONDO:0004139	biolink:NamedThing	normocytic anemia	Anemia in which the red blood cell volume is normal.	mondoexuq1wtf	anemia normocytic|normocytic Anemia											SCTID:300980002|ICD9:285.8|UMLS:C0085577|DOID:720|NCIT:C35142																		owl:Class
MONDO:0020971	biolink:NamedThing	gonococcal urethritis	Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.	mondoexuq1wtf	gonococcal urethritis|gc urethritis|Gonococcal urethritis											UMLS:C0018078|NCIT:C26787|SCTID:236682002																		owl:Class
MONDO:0008055	biolink:NamedThing	myotonia congenita, autosomal dominant		mondoexuq1wtf	myotonia congenita, autosomal dominant|myotonia Levior|Thomsen disease|Thomsen and Becker disease|congenital myotonia, autosomal dominant form|Thomsen's disease											OMIM:160800|ICD9:359.29|SCTID:57938005																		owl:Class
MONDO:0003868	biolink:NamedThing	anterior foramen magnum meningioma	A meningioma that affects the anterior foramen magnum.	mondoexuq1wtf	meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum											UMLS:C1332302|DOID:6381|NCIT:C5281																		owl:Class
MONDO:0003109	biolink:NamedThing	foramen magnum meningioma	A meningioma that affects the foramen magnum.	mondoexuq1wtf	foramen magnum meningioma (disease)|meningioma of the Foramen magnum|meningioma (disease) of foramen magnum|meningioma of Foramen magnum											UMLS:C1333630|NCIT:C5280|DOID:4708																		owl:Class
MONDO:0018643	biolink:NamedThing	susceptibility to localized juvenile periodontitis		mondoexuq1wtf												ICD10:D71|Orphanet:447740																		owl:Class
MONDO:0015978	biolink:NamedThing	functional neutrophil defect		mondoexuq1wtf	neutrophilopathy|neutrophil disease											SCTID:105600002|Orphanet:183681																		owl:Class
MONDO:0015070	biolink:NamedThing	laryngeal neuroendocrine neoplasm	A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.	mondoexuq1wtf	neuroendocrine tumor of larynx|larynx NET|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|laryngeal neuroendocrine neoplasm|larynx neuroendocrine tumor|larynx neuroendocrine neoplasm|laryngeal neuroendocrine tumor|neuroendocrine neoplasm of the larynx|neuroendocrine neoplasm of larynx											Orphanet:100083|DOID:5457|SCTID:707625001|NCIT:C6023|UMLS:C1334374																		owl:Class
MONDO:0019346	biolink:NamedThing	sialidosis type 1	Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.	mondoexuq1wtf	cherry red spot myoclonus syndrome|Normomorphic sialidosis|sialidosis type I|normosomatic sialidosis|cherry-red spot-myoclonus syndrome|lipomucopolysaccharidosis|myoclonus cherry red spot syndrome											ICD10:E77.1|UMLS:CN206021|SCTID:34960006|UMLS:C0023806|Orphanet:812|GARD:0007639																		owl:Class
MONDO:0003911	biolink:NamedThing	ciliary body mixed cell melanoma	A mixed cell uveal melanoma that involves the ciliary body.	mondoexuq1wtf	mixed cell uveal melanoma of ciliary body|ciliary body mixed cell melanoma|ciliary body mixed cell uveal melanoma											UMLS:C1333051|NCIT:C35783|DOID:6523																		owl:Class
MONDO:0006528	biolink:NamedThing	bacterial exanthem	A bacteria-induced exanthem	mondoexuq1wtf												DOID:0050487|EFO:1000671																		owl:Class
MONDO:0004422	biolink:NamedThing	cerebral falx meningioma	A meningioma that affects the falx cerebri.	mondoexuq1wtf	meningioma of falx cerebri|meningioma of falx of cerebrum|meningioma of the falx of the cerebrum|falx cerebri meningioma|meningioma of cerebral falx|falx cerebri meningioma (disease)|Falcine meningioma|meningioma of the cerebral falx|meningioma of the falx cerebri|meningioma (disease) of falx cerebri											UMLS:C1333597|NCIT:C5267|DOID:7986																		owl:Class
MONDO:0008200	biolink:NamedThing	autosomal dominant Parkinson disease 1		mondoexuq1wtf	autosomal dominant Parkinson disease type 1|PARK1|Parkinson disease 1, autosomal dominant|atypical Parkinson disease|autosomal dominant Parkinson's disease 1|Parkinson disease 1, autosomal dominant Lewy body					Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation						DOID:0060367|MESH:C566823|OMIM:168601																		owl:Class
MONDO:0009153	biolink:NamedThing	ectopia lentis et pupillae		mondoexuq1wtf	ectopia lentis with ectopia of pupil|ectopia lentis et pupillae											DOID:0111648|OMIM:225200|UMLS:C1644196|SCTID:419237004|MESH:C563268																		owl:Class
MONDO:0017531	biolink:NamedThing	postaxial polydactyly type A, unilateral		mondoexuq1wtf												UMLS:CN203262|ICD10:Q69.0|Orphanet:295163																		owl:Class
MONDO:0002520	biolink:NamedThing	hepatic porphyria	A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.	mondoexuq1wtf	porphyria, hepatic|hepatic Porphyrias|hepatic porphyria|Delta-aminolevulinate dehydratase deficiency|acute porphyria|porphobilinogen synthase deficiency|ALAD deficiency|liver porphyria|porphyria of liver|acute hepatic porphyria											UMLS:CN552491|DOID:3133|SCTID:55056006|MESH:D017094|ICD10:E80.2|Orphanet:95157|GTR:AN0932921|UMLS:C0162533																		owl:Class
MONDO:0008994	biolink:NamedThing	cleidocranial dysplasia, recessive form		mondoexuq1wtf	autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia recessive form|cleidocranial dysplasia, recessive form											MESH:C565843|GARD:0010623|OMIM:216330|UMLS:C1859080														https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form				owl:Class
MONDO:0007340	biolink:NamedThing	cleidocranial dysplasia	Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.	mondoexuq1wtf	dysplasia cleidocranial|CCD|CLCD|cleidocranial dysplasia, forme fruste, with brachydactyly|Marie-Sainton disease|cleidocranial dysplasia, forme fruste, dental anomalies only|cleidocranial dysplasia|cleidocranial dysostosis											UMLS:C0008928|OMIM:119600|DOID:13994|MESH:D002973|NCIT:C75020|Orphanet:1452|ICD10:Q74.0|SCTID:65976001|ICD9:755.59|GARD:0006118																		owl:Class
MONDO:0014334	biolink:NamedThing	severe combined immunodeficiency due to LCK deficiency		mondoexuq1wtf	SCID due to lymphocyte-specific protein tyrosine kinase deficiency|IMD22|immunodeficiency type 22|immunodeficiency 22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|SCID due to LCK deficiency											UMLS:C4014233|ICD10:D81.1|OMIM:615758|Orphanet:280142																		owl:Class
MONDO:0012126	biolink:NamedThing	familial avascular necrosis of femoral head	Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.	mondoexuq1wtf	familial avascular necrosis of the femoral head|ischemic Necrosis of femoral head|femoral head, aseptic Necrosis of|femoral head, avascular Necrosis of|osteonecrosis of femoral head|ANFH1|avascular Necrosis of femoral head, primary, 1|primary avascular necrosis of the femoral head|avascular NECROSIS of femoral head, primary|avascular NECROSIS of femoral head, primary, 1|aseptic Necrosis of femoral head|ANFH|aseptic Necrosis of head of femur|familial osteonecrosis of the femoral head											MESH:D005271|OMIMPS:608805|ICD10:M87.8|Orphanet:86820|GARD:0010914|UMLS:CN206226|NCIT:C35480|SCTID:715657008														https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head				owl:Class
MONDO:0100248	biolink:NamedThing	rapidly progressive primary central nervous system vasculitis	A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.	mondoexuq1wtf	rapidly progressive PCNSV																													owl:Class
MONDO:0018130	biolink:NamedThing	brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	mondoexuq1wtf												Orphanet:352649|UMLS:C4303546|ICD10:G25.8|UMLS:CN204508|SCTID:717942003																		owl:Class
MONDO:0009451	biolink:NamedThing	Nezelof syndrome		mondoexuq1wtf	thymic aplasia|Nezelof syndrome|Nezelof's syndrome|immune defect due to absence Of Thymus|T-lymphocyte deficiency|immune defect due to absence of THYMUS											Orphanet:83471|DOID:2012|GARD:0007201|MESH:C536288|SCTID:55602000|OMIM:242700|ICD9:279.13|ICD10:D81.4|UMLS:CN206066																		owl:Class
MONDO:0018036	biolink:NamedThing	immunodeficiency due to absence of thymus		mondoexuq1wtf												ICD10:D81.4|Orphanet:331220																		owl:Class
MONDO:0014474	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2U	Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|muscular dystrophy limb-girdle type 2U|muscular dystrophy, limb-girdle, type 2U|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency|MDDGC7|ISPD autosomal recessive limb-girdle muscular dystrophy|LGMD2U											OMIM:616052|Orphanet:352479|DOID:0110295|UMLS:C4015095|ICD10:G71.0																		owl:Class
MONDO:0012965	biolink:NamedThing	seizures, benign familial infantile, 4		mondoexuq1wtf	BFIS4|seizures, benign familial infantile, 4|convulsions, benign familial infantile, 4											UMLS:C2675462|MESH:C567231|OMIM:612627																		owl:Class
MONDO:0007391	biolink:NamedThing	coxa vara	Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.	mondoexuq1wtf	coxa vara|coxa vara, congenital|coxa vara (disease)		coxa vara (disease)									GARD:0008750|HP:0002812|EFO:1001298|OMIM:122750|MESH:D060905																		owl:Class
MONDO:0013956	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.	mondoexuq1wtf	Stat1 deficiency, autosomal dominant|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|MSMD due to partial STAT1 deficiency|immunodeficiency 31A|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|MSMD due to partial signal transducer and activator of transcription 1 deficiency|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|IMD31A|immunodeficiency type 31A											Orphanet:319595|UMLS:C4013950|ICD10:D84.8|OMIM:614892																		owl:Class
MONDO:0013427	biolink:NamedThing	immunodeficiency 31B		mondoexuq1wtf	Stat1 deficiency, autosomal recessive|immunodeficiency 31B|susceptibility to viral and mycobacterial infections|IMD31B|immunodeficiency type 31B|STAT1 deficiency|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive											UMLS:C3151088|OMIM:613796|ICD10:D84.8|Orphanet:391311																		owl:Class
MONDO:0015433	biolink:NamedThing	ring chromosome 17	Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.	mondoexuq1wtf	Ring 17|R17|chromosome 17 ring|Ring chromosome 17 syndrome|Ring chromosome type 17											MESH:C538046|Orphanet:1441|GARD:0004724|ICD10:Q93.2														https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17				owl:Class
MONDO:0019919	biolink:NamedThing	maternal uniparental disomy of chromosome 22		mondoexuq1wtf	maternal uniparental disomy of chromosome type 22|UPD(22)mat											ICD10:Q99.8|Orphanet:96188																		owl:Class
MONDO:0007203	biolink:NamedThing	blue rubber bleb nevus	Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.	mondoexuq1wtf	blue rubber bleb nevus syndrome|BRBN|blue rubber bleb nevus|bean syndrome|BRBNS											NCIT:C4486|GARD:0005940|UMLS:C0346072|SCTID:254784002|MESH:C536240|Orphanet:1059|ICD10:Q27.8|OMIM:112200																		owl:Class
MONDO:0008940	biolink:NamedThing	endosteal sclerosis-cerebellar hypoplasia syndrome	Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	mondoexuq1wtf	cerebellar hypoplasia with endosteal sclerosis											MESH:C535353|Orphanet:85186|UMLS:C1859301|ICD10:Q87.8|GARD:0001195|OMIM:213002																		owl:Class
MONDO:0032824	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 21		mondoexuq1wtf	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21|Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GPIBD21											OMIM:618590																		owl:Class
MONDO:0021283	biolink:NamedThing	malignant teratoma of mediastinum	A malignant teratoma that involves the mediastinum.	mondoexuq1wtf	malignant teratoma of the mediastinum|immature malignant teratoma of the mediastinum|malignant mediastinal teratoma|mediastinum malignant teratoma|immature malignant teratoma of mediastinum|mediastinal immature malignant teratoma											SCTID:278042005|NCIT:C4668|UMLS:C0349663																		owl:Class
MONDO:0003518	biolink:NamedThing	mediastinum teratoma	A teratoma that involves the mediastinum.	mondoexuq1wtf	teratoma of mediastinum|mediastinum teratoma											UMLS:C1334682|DOID:5568|NCIT:C6438																		owl:Class
MONDO:0008475	biolink:NamedThing	spondylolisthesis	A condition in which there is forward displacement of a vertebral bone over the on below it.	mondoexuq1wtf	spondylolisthesis (disease)|spondylolisthesis		spondylolisthesis (disease)									DOID:6682|HP:0003302|ICD10:M43.1|SCTID:274152003|MESH:D013168|ICD10:M43.10|OMIM:184200|NCIT:C35033|EFO:0007493|UMLS:C0038016																		owl:Class
MONDO:0005748	biolink:NamedThing	enzootic pneumonia of calves	Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.	mondoexuq1wtf												EFO:0007256|UMLS:C0276046|MESH:D048089																		owl:Class
MONDO:0010006	biolink:NamedThing	Sandhoff disease	Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.	mondoexuq1wtf	Sandhoff Jatzkewitz disease|GM2 gangliosidosis 0 variant|Sandhoff-Jatzkewitz-Pilz disease|Sandhoff disease|GM2-gangliosidosis, type 2|hexosaminidase A and B deficiency disease|total hexosaminidase deficiency|Hexosaminidases a and B deficiency|Sandhoff disease, adult type|Sandhoff disease, infantile type|GM2 gangliosidosis, type 2|Beta-hexosaminidase-beta-subunit deficiency|Sandhoff disease, juvenile type|GM2 gangliosidosis, 0 variant|Hexosaminidases A and B deficiency											NCIT:C85052|GARD:0002521|Orphanet:796|ICD10:E75.01|ICD10:E75.0|UMLS:C0036161|GARD:0007604|SCTID:23849003|OMIM:268800|DOID:3323|MESH:D012497																		owl:Class
MONDO:0004327	biolink:NamedThing	sphenoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	mondoexuq1wtf	Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma|Schneiderian papilloma of the sphenoid sinus											UMLS:C1336038|DOID:7679|NCIT:C6838																		owl:Class
MONDO:0006785	biolink:NamedThing	Henoch-Schoenlein purpura	A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy.	mondoexuq1wtf	purpura, autoimmune|autoimmune purpura|Henoch-Schoenlein purpura|Schoenlein-Henoch purpura|allergic purpura|Henoch-Schönlein purpura|Henoch-Scholein purpura|HSP|Henoch-Schonlein purpura											DOID:11123|EFO:1000965|NCIT:C34963|MESH:D011695|ICD9:287.0|ICD10:D69.0|SCTID:191306005																		owl:Class
MONDO:0006794	biolink:NamedThing	hypersensitivity vasculitis	A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.	mondoexuq1wtf	leukocytoclastic vasculitis											ICD10:M31.0|ICD10:D69.0|EFO:1000974|SCTID:60555002|ICD9:446.20|NCIT:C82863|ICD9:446.2|DOID:9809|MedDRA:10020764|ICD9:446.29																		owl:Class
MONDO:0008424	biolink:NamedThing	sella turcica, bridged		mondoexuq1wtf	sella turcica, bridged											MESH:C566689|OMIM:182200																		owl:Class
MONDO:0007909	biolink:NamedThing	familial multiple lipomatosis	Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.	mondoexuq1wtf	lipomatosis, multiple|lipomatosis, familial multiple|lipoma											ICD9:214.8|ICD10:E88.2|SCTID:766888002|ICD9:214.9|OMIM:151900|GARD:0012925|Orphanet:199276																		owl:Class
MONDO:0013459	biolink:NamedThing	osteogenesis imperfecta type 10	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.	mondoexuq1wtf	OI, type 10|osteogenesis imperfecta, type 10|OI10|SERPINH1 osteogenesis imperfecta|OI type X|osteogenesis imperfecta type X|osteogenesis imperfecta, type X|OI type 10|osteogenesis imperfecta caused by mutation in SERPINH1											DOID:0110346|UMLS:C3151211|GARD:0012874|ICD10:Q78.0|OMIM:613848																		owl:Class
MONDO:0011211	biolink:NamedThing	axial spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.	mondoexuq1wtf	spondylometaphyseal dysplasia, axial|SmD, axial|spondylometaphyseal dysplasia axial type|SMDAX|axial SmD|SmD axial											ICD10:Q77.8|UMLS:C1865695|OMIM:602271|MESH:C535795|Orphanet:168549|GARD:0008720														https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia				owl:Class
MONDO:0003851	biolink:NamedThing	ovarian fetiform teratoma	A rare type of teratoma that arises from the ovary and resembles a malformed fetus.	mondoexuq1wtf	ovarian fetiform teratoma|homunculus											UMLS:C1518715|DOID:6314|NCIT:C39996																		owl:Class
MONDO:0013450	biolink:NamedThing	congenital stationary night blindness 1D	Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.	mondoexuq1wtf	night blindness, congenital stationary, type 1D|congenital stationary night blindness 1D autosomal recessive|Csnb, complete, autosomal recessive|CSNB1D|congenital stationary night blindness type 1D|congenital stationary night blindness caused by mutation in SLC24A1|SLC24A1 congenital stationary night blindness											DOID:0110868|UMLS:C3151193|OMIM:613830																		owl:Class
MONDO:0015722	biolink:NamedThing	congenital vitamin K-dependent coagulation factors deficiency	Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.	mondoexuq1wtf	vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency											Orphanet:169826|ICD10:D68.2|DC:0000684|OMIMPS:277450																		owl:Class
MONDO:0006521	biolink:NamedThing	acneiform dermatitis	Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).	mondoexuq1wtf	Rash acneiform											DOID:4399|NCIT:C35277|UMLS:C0234894|EFO:1000662																		owl:Class
MONDO:0013463	biolink:NamedThing	dextro-looped transposition of the great arteries 3	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.	mondoexuq1wtf	CHTD6|dextro-looped transposition of the great arteries caused by mutation in GDF1|dextro-looped transposition of the great arteries type 3|GDF1 dextro-looped transposition of the great arteries|transposition of the great arteries, dextro-looped 3|congenital heart defects, multiple types, 6|transposition of the great arteries, dextro-looped 3, formerly|DTGA3|transposition of the great arteries, dextro-looped type 3											OMIM:613854|ICD10:Q20.3|UMLS:C3151221|DOID:0060772																		owl:Class
MONDO:0013175	biolink:NamedThing	retinitis pigmentosa 50	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.	mondoexuq1wtf	retinitis pigmentosa 50|retinitis pigmentosa caused by mutation in BEST1|RP50|retinitis pigmentosa type 50|BEST1 retinitis pigmentosa|retinitis pigmentosa, concentric											ICD10:H35.5|MESH:C567712|OMIM:613194|DOID:0110396																		owl:Class
MONDO:0001660	biolink:NamedThing	proliferative diabetic retinopathy	Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.	mondoexuq1wtf												NCIT:C84457|DOID:13207|UMLS:C0154830|COHD:380096|ICD9:362.02|SCTID:59276001																		owl:Class
MONDO:0005266	biolink:NamedThing	diabetic retinopathy	A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.	mondoexuq1wtf	retinal abnormality - diabetes-related											ICD9:362.0|DOID:8947|MESH:D003930|EFO:0003770|COHD:4174977|UMLS:C0011884|NCIT:C34538|ICD10:H36.0|SCTID:4855003																		owl:Class
MONDO:0012901	biolink:NamedThing	inherited prekallikrein deficiency	An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	Fletcher Factor deficiency|congenital prekallikrein deficiency|PKK deficiency|prekallikrein deficiency, congenital|prekallikrein deficiency|hereditary prekallikrein deficiency											ICD9:286.9|GARD:0004477|OMIM:612423|Orphanet:749|MESH:C562725|ICD10:D68.8														https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital				owl:Class
MONDO:0044744	biolink:NamedThing	prekallikrein deficiency	A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.	mondoexuq1wtf	prekallikrein deficiency											SCTID:48976006|NCIT:C99022																		owl:Class
MONDO:0018540	biolink:NamedThing	PFAPA syndrome	PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.	mondoexuq1wtf	PFAPA|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|Marshall syndrome with periodic fever|periodic fever, aphthous stomatitis, pharyngitis and adenitis|Marshall syndrome|periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome					Editor note: TODO check NCIT assigns this to be autoimmune but this is likely a mistake						GARD:0005657|Orphanet:42642|ICD10:E85.0|UMLS:C4082167|SCTID:717231003|NCIT:C116917|UMLS:CN205072																		owl:Class
MONDO:0015158	biolink:NamedThing	unexplained periodic fever syndrome		mondoexuq1wtf												ICD10:E85.0|Orphanet:102237|UMLS:CN197498																		owl:Class
MONDO:0010003	biolink:NamedThing	Rowley-Rosenberg syndrome		mondoexuq1wtf	Rowley-Rosenberg syndrome|Growth retardation, pulmonary hypertension, and aminoaciduria|Growth retardation, pulmonary hypertension, and amino aciduria											SCTID:53783003|OMIM:268500|UMLS:C0268426|GARD:0008556|MESH:C535874														https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome				owl:Class
MONDO:0017549	biolink:NamedThing	humero-radio-ulnar synostosis, bilateral		mondoexuq1wtf	humero-radio-ulnar fusion, bilateral											Orphanet:295207|ICD10:Q74.0																		owl:Class
MONDO:0017992	biolink:NamedThing	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis		mondoexuq1wtf												UMLS:CN237438|Orphanet:329173																		owl:Class
MONDO:0018269	biolink:NamedThing	white platelet syndrome	White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	mondoexuq1wtf	platelet granule deficiency disorder					Editor note: check relationship to platelet granule deficiency disorder						MESH:C536702|UMLS:C2931293|Orphanet:370131|SCTID:718553004|GARD:0009282|ICD10:D69.1														https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome				owl:Class
MONDO:0001697	biolink:NamedThing	reading disorder	A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.	mondoexuq1wtf												ICD9:315.00|DOID:13365|ICD9:315.09|SCTID:52824009																		owl:Class
MONDO:0001290	biolink:NamedThing	allergic cutaneous vasculitis	Inflammation of the small vessels of the skin that is mediated by the immune system.	mondoexuq1wtf	allergic cutaneous angiitis|autoimmune hypersensitivity angiitis											DOID:11450|NCIT:C35119																		owl:Class
MONDO:0017804	biolink:NamedThing	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	mondoexuq1wtf												UMLS:CN203767|Orphanet:314572																		owl:Class
MONDO:0015514	biolink:NamedThing	genetic endocrine growth disease		mondoexuq1wtf	growth disorder											UMLS:CN237424|Orphanet:156643|MESH:D006130																		owl:Class
MONDO:0000188	biolink:NamedThing	GLUT1 deficiency syndrome		mondoexuq1wtf	GLUT1DS					Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1						OMIMPS:606777|DC:0000690																		owl:Class
MONDO:0002583	biolink:NamedThing	mucinous ovarian cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.	mondoexuq1wtf	mucinous cystadenoma of the ovary|ovarian mucinous cystadenoma|benign ovarian mucinous cystadenoma|benign mucinous cystadenoma of the ovary|benign mucinous cystadenoma of ovary|mucinous cystadenoma of ovary|ovary mucinous cystadenoma											SCTID:119422004|NCIT:C4512|UMLS:C0346172|DOID:3267																		owl:Class
MONDO:0006859	biolink:NamedThing	mucinous cystadenoma	A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	mondoexuq1wtf	mucinous adenoma|adenoma, mucinous, benign|pseudomucinous cystadenoma|mucinous cystadenoma|mucinous cystoma											MESH:D018291|ICDO:8480/0|EFO:1001048|ICDO:8470/0|UMLS:C0010635|NCIT:C2973																		owl:Class
MONDO:0030858	biolink:NamedThing	immunodeficiency 75		mondoexuq1wtf	IMD75|immunodeficiency 75											OMIM:619126																		owl:Class
MONDO:0016832	biolink:NamedThing	distal 7q11.23 microduplication syndrome	Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	mondoexuq1wtf	distal dup(7)(q11.23)|Dup7q11.23D|distal trisomy 7q11.23											UMLS:CN202160|ICD10:Q92.3|Orphanet:261102																		owl:Class
MONDO:0016958	biolink:NamedThing	partial duplication of the long arm of chromosome 7	Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial trisomy of the long arm of chromosome 7|trisomy 7q|chromosome 7q duplication|7q trisomy|partial duplication of the long arm of chromosome type 7|7q duplication|partial duplication of chromosome 7q|partial trisomy 7q|partial trisomy of chromosome 7q|Duplication 7q											Orphanet:262887|UMLS:C0795821|MESH:C537821|GARD:0005357																		owl:Class
MONDO:0005730	biolink:NamedThing	Dictyocaulus infectious disease	Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.	mondoexuq1wtf	infections, Dictyocaulus|infection, Dictyocaulus|Dictyocaulus caused disease or disorder|Dictyocaulus infection|Dictyocauliases|Dictyocaulus disease or disorder|Dictyocauliasis										MONDO:0025190	EFO:0007235|MESH:D004022|UMLS:C0012118																		owl:Class
MONDO:0009851	biolink:NamedThing	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain		mondoexuq1wtf	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain											MESH:C564894|OMIM:260970|UMLS:C1850022																		owl:Class
MONDO:0006644	biolink:NamedThing	alcoholic liver cirrhosis	A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.	mondoexuq1wtf	alcoholic cirrhosis of liver|Laennec's cirrhosis, alcoholic|Laennec's cirrhosis|portal cirrhosis|alcoholic cirrhosis											MedDRA:10001618|CSP:1754-7677|COHD:196463|UMLS:C0023891|ICD10:K70.3|EFO:1000802|SCTID:419728003|UMLS:C1622502|MESH:D008104|ICD9:571.2|NCIT:C34782|DOID:14018																		owl:Class
MONDO:0005155	biolink:NamedThing	cirrhosis of liver	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.	mondoexuq1wtf	cirrhosis|liver cirrhosis|cirrhosis of liver											NCIT:C2951|SCTID:19943007|DOID:5082|ICD10:K74.60|ICD9:571.5|EFO:0001422|MESH:D008103|UMLS:C0023890																		owl:Class
MONDO:0017506	biolink:NamedThing	congenital absence/hypoplasia of thumb, unilateral	Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.	mondoexuq1wtf	thumb oligodactyly, unilateral|thumb hypodactyly, unilateral											ICD10:Q71.3|Orphanet:295110																		owl:Class
MONDO:0017447	biolink:NamedThing	congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.	mondoexuq1wtf	thumb hypodactyly|thumb oligodactyly											Orphanet:294988|ICD10:Q71.3																		owl:Class
MONDO:0030976	biolink:NamedThing	oculomotor-abducens synkinesis		mondoexuq1wtf	OCABSN											OMIM:619215																		owl:Class
MONDO:0014142	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2T	Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 2T|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|GMPPB autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|LGMD2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|LGMD-GMPPB related|MDDGC14|muscular dystrophy limb-girdle type 2T|muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14											ICD10:G71.2|DOID:0110294|ICD10:G71.0|UMLS:C3714932|Orphanet:363623|GARD:0012544|OMIM:615352																		owl:Class
MONDO:0700084	biolink:NamedThing	myopathy caused by varation in GMPPB	Any myopathy in which the cause of the disease is a varation in the GMPPB gene.	mondoexuq1wtf	GMPPB-related myopathy|myopathy caused by mutation in GMPPB							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0015043	biolink:NamedThing	extramedullary soft tissue plasmacytoma		mondoexuq1wtf												UMLS:CN197328|ICD10:C90.2|Orphanet:100022																		owl:Class
MONDO:0005615	biolink:NamedThing	plasmacytoma	Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.	mondoexuq1wtf	plasmacytoma|myeloma, solitary|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|anaplastic plasmacytoma|solitary plasmacytoma|solitary myeloma|myeloma - solitary|extramedullary anaplastic plasmacytoma (type)|anaplastic skeletal plasmacytoma (type)					alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma.						ICD10:C90.3|DOID:3721|ICD10:C90.30|UMLS:C0032131|ICDO:9731/3|NCIT:C9349|GARD:0007404|ICD10:C90.2|MESH:D010954|Orphanet:86855|MedDRA:10035484|SCTID:415112005|EFO:0006738|ICD9:238.6																		owl:Class
MONDO:0018532	biolink:NamedThing	adenocarcinoma of liver and intrahepatic biliary tract		mondoexuq1wtf	adenocarcinoma of the liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract|adenocarcinoma of liver and IBT											Orphanet:424943|ICD10:C22.0|UMLS:CN242181|ICD10:C22.1																		owl:Class
MONDO:0015250	biolink:NamedThing	spinal atrophy-ophthalmoplegia-pyramidal syndrome	Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	mondoexuq1wtf	infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms|Hamano Tsukamoto syndrome|Hamano-Tsukamoto syndrome|spinal atrophy ophthalmoplegia pyramidal syndrome											UMLS:C2930956|Orphanet:1217|ICD10:G12.2|MESH:C535625|GARD:0004942														https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome				owl:Class
MONDO:0006916	biolink:NamedThing	postcholecystectomy syndrome	Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.	mondoexuq1wtf												EFO:1001117|ICD9:576.0|ICD10:K91.5|SCTID:90782003|COHD:200444|DOID:9740|MESH:D017562|UMLS:C0152099																		owl:Class
MONDO:0021486	biolink:NamedThing	benign neoplasm of ciliary body	A benign neoplasm that involves the ciliary body.	mondoexuq1wtf	benign ciliary body tumor|benign tumor of the ciliary body|benign tumor of ciliary body|benign neoplasm of the ciliary body|ciliary body benign neoplasm|benign ciliary body neoplasm											NCIT:C4779|UMLS:C0496894|ICD9:224.0|SCTID:92060009																		owl:Class
MONDO:0018112	biolink:NamedThing	isolated scaphocephaly	Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.	mondoexuq1wtf	non-syndromic sagittal synostosis|isolated dolichocephaly											ICD10:Q75.0|Orphanet:35093																		owl:Class
MONDO:0012119	biolink:NamedThing	asperger syndrome, susceptibility to, 3		mondoexuq1wtf	ASPERGER syndrome, susceptibility to, 3|ASPG3											UMLS:C1837434|OMIM:608781																		owl:Class
MONDO:0005259	biolink:NamedThing	Asperger syndrome	A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.	mondoexuq1wtf	autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|asperger syndrome, susceptibility to|ASPG					The name Aspergers is controversial, however, it seems to be the community accepted name.						ICD10:F84.5|SCTID:23560001|MESH:D020817|EFO:0003757|NCIT:C97159|GARD:0005855|DOID:0050432|OMIMPS:608638																		owl:Class
MONDO:0009297	biolink:NamedThing	familial renal glucosuria	Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).	mondoexuq1wtf	familial renal glucosuria|GLYS|renal glycosuria|SGLT2 deficiency|renal diabetes|Glys1|renal glucosuria|glycosuria, renal											Orphanet:69076|MedDRA:10038457|ICD9:271.4|OMIM:233100|UMLS:C0017980|GARD:0007548|SCTID:267430007|DOID:9432|EFO:1001151|MESH:D006030|COHD:193170|ICD10:E74.8|UMLS:C3245525														https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria				owl:Class
MONDO:0003839	biolink:NamedThing	ovarian mucinous adenocarcinofibroma	A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.	mondoexuq1wtf	ovarian mucinous adenocarcinofibroma|ovarian mucinous malignant adenofibroma											DOID:6278|UMLS:C2212014|ICDO:9015/3|NCIT:C40034																		owl:Class
MONDO:0008990	biolink:NamedThing	cleft larynx, posterior		mondoexuq1wtf	cleft larynx, posterior|laryngotracheoesophageal cleft pulmonary hypoplasia|Novak syndrome|stridor, congenital											OMIM:215800|GARD:0004015|Orphanet:2005																		owl:Class
MONDO:0020267	biolink:NamedThing	genetic keratinization disorder associated with ocular features		mondoexuq1wtf												UMLS:CN227842|Orphanet:98697																		owl:Class
MONDO:0013330	biolink:NamedThing	agenesis of the corpus callosum and congenital lymphedema		mondoexuq1wtf	agenesis of the corpus callosum and congenital lymphedema											OMIM:613623|UMLS:C3150887																		owl:Class
MONDO:0013582	biolink:NamedThing	mosaic variegated aneuploidy syndrome 2	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.	mondoexuq1wtf	Mosaic variegated aneuploidy syndrome type 2|mosaic variegated aneuploidy syndrome 2|mosaic variegated aneuploidy syndrome type 2|CEP57 mosaic variegated aneuploidy syndrome|MVA2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|MOSAIC variegated aneuploidy syndrome 2											OMIM:614114|UMLS:C3279843|DOID:0080142																		owl:Class
MONDO:0007334	biolink:NamedThing	autosomal dominant popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	mondoexuq1wtf	PPS|popliteal pterygium syndrome|popliteal pterygium syndrome, autosomal dominant|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|facio-genito-popliteal syndrome|popliteal web syndrome|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies|faciogenitopopliteal syndrome					Editor note: check logical definition						Orphanet:1300|SCTID:718222000|UMLS:CN199177|OMIM:119500|GARD:0003242|ICD10:Q87.2																		owl:Class
MONDO:0015136	biolink:NamedThing	immunodeficiency due to a genetic complement cascade protein anomaly		mondoexuq1wtf	immunodeficiency due to a complement cascade protein anomaly					Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit#						Orphanet:101992|ICD10:D84.1																		owl:Class
MONDO:0009166	biolink:NamedThing	pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.	mondoexuq1wtf	pontocerebellar hypoplasia, type 4|olivopontocerebellar hypoplasia|PCH4|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|encephalopathy fatal infantile with olivopontocerebellar hypoplasia											SCTID:718608006|ICD10:Q04.3|UMLS:C1856974|DOID:0060273|Orphanet:166063|GARD:0000343|MESH:C536716|OMIM:225753														https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4				owl:Class
MONDO:0001919	biolink:NamedThing	cystoid macular retinal degeneration		mondoexuq1wtf	cystoid macular degeneration of retina											DOID:14245|UMLS:C0154850|COHD:376115|ICD10:H35.35|ICD9:362.53|SCTID:14046000																		owl:Class
MONDO:0002175	biolink:NamedThing	degeneration of macula and posterior pole		mondoexuq1wtf	degeneration of macula and posterior pole of retina|degeneration of macula or posterior pole											ICD9:362.5|SCTID:267611002|DOID:2007|UMLS:C0339436|ICD10:H35.3																		owl:Class
MONDO:0001229	biolink:NamedThing	small intestine diverticulitis	A diverticulitis that involves the small intestine.	mondoexuq1wtf	small intestine diverticulitis|diverticulosis of small intestine with hemorrhage|diverticulitis of small intestine											COHD:193239|SCTID:56165008|DOID:11223|ICD9:562.02|UMLS:C0156164|ICD9:562.01																		owl:Class
MONDO:0004235	biolink:NamedThing	diverticulitis	An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.	mondoexuq1wtf	inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation											SCTID:307496006|NCIT:C26752|DOID:7475|UMLS:C0012813|EFO:1001460|MESH:D004238																		owl:Class
MONDO:0006153	biolink:NamedThing	colon juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	mondoexuq1wtf	juvenile polyp of colon|colon retention polyp|retention polyp of colon|juvenile polyp of the colon|colonic retention polyp|retention polyp of the colon|colonic juvenile polyp											EFO:1000185|UMLS:C1333090|NCIT:C5518																		owl:Class
MONDO:0054770	biolink:NamedThing	orofaciodigital syndrome 18		mondoexuq1wtf	Ofds 18|orofaciodigital syndrome XVIII|OFD18|oral-Facial-digital syndrome, type 18											UMLS:CN244546|OMIM:617927																		owl:Class
MONDO:0019959	biolink:NamedThing	glucagonoma	Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.	mondoexuq1wtf	glucagonoma syndrome|pancreatic glucagonoma|glucagonoma											MedDRA:10018404|EFO:1000441|ICD10:E16.8|NCIT:C95597|MESH:D005935|GARD:0002496|SCTID:16424000|Orphanet:97280|UMLS:C0017689																		owl:Class
MONDO:0014406	biolink:NamedThing	pancreatic agenesis 2	Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.	mondoexuq1wtf	pancreatic hypoplasia, congenital 2|pancreatic agenesis type 2|pancreatic agenesis 2|PTF1A pancreatic agenesis|pancreatic agenesis caused by mutation in PTF1A|PAGEN2											OMIM:615935|UMLS:C4014737																		owl:Class
MONDO:0009832	biolink:NamedThing	pancreatic agenesis	Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.	mondoexuq1wtf	congenital pancreatic agenesis|pancreatic agenesis type 1|partial agenesis of the pancreas|pancreatic agenesis 1|PAGEN1|partial pancreatic agenesis											SCTID:719044008|OMIMPS:260370|UMLS:C1850096|DOID:0050877|Orphanet:2805|ICD10:Q45.0|MESH:C564908																		owl:Class
MONDO:0032611	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 6		mondoexuq1wtf	MC1DN6|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6											OMIM:618228																		owl:Class
MONDO:0015764	biolink:NamedThing	mosaic trisomy 20	Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.	mondoexuq1wtf	Mosaic trisomy type 20|Mosaic trisomy chromosome 20											ICD10:Q92.1|Orphanet:1724																		owl:Class
MONDO:0021120	biolink:NamedThing	functioning endocrine neoplasm	A hormone producing endocrine neoplasm, associated with a hormonal syndrome.	mondoexuq1wtf	functioning tumor|functioning endocrine neoplasm											ICDO:8158/1|UMLS:C2986655|NCIT:C94759																		owl:Class
MONDO:0001299	biolink:NamedThing	diabetic autonomic neuropathy	Autonomic neuropathy that is caused by diabetes mellitus.	mondoexuq1wtf												ICD9:337.1|DOID:11503|SCTID:50620007|UMLS:C0271686|NCIT:C27068																		owl:Class
MONDO:0006626	biolink:NamedThing	diabetic neuropathy	A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.	mondoexuq1wtf												MESH:D003929|EFO:1000783|SCTID:230572002|DOID:9743|UMLS:C0011882|ICD9:250.6|NCIT:C26748																		owl:Class
MONDO:0001996	biolink:NamedThing	steroid-induced glaucoma - borderline		mondoexuq1wtf	steroid responders borderline glaucoma|borderline glaucoma steroid responder											UMLS:C0339572|DOID:14548|COHD:435809|SCTID:302895007|ICD9:365.03																		owl:Class
MONDO:0004744	biolink:NamedThing	borderline glaucoma		mondoexuq1wtf	Preglaucoma											DOID:9283|COHD:4102183|ICD9:365.00|UMLS:C1533674|ICD10:H40.00|SCTID:193531003																		owl:Class
MONDO:0018671	biolink:NamedThing	IgG4-related kidney disease		mondoexuq1wtf												UMLS:CN237737|ICD10:N11.8|Orphanet:449395																		owl:Class
MONDO:0018184	biolink:NamedThing	gastric linitis plastica	Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.	mondoexuq1wtf	Borrmann gastric cancer type 4|linitis plastica of the stomach											UMLS:CN204677|SCTID:721629005|ICD10:C16.9|Orphanet:36273																		owl:Class
MONDO:0009777	biolink:NamedThing	Oliver syndrome	Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	mondoexuq1wtf	postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and mental retardation|postaxial polydactyly and intellectual disability|Oliver syndrome											SCTID:721017000|MESH:C564931|OMIM:258200|Orphanet:2920|GARD:0004069|UMLS:C1850320|ICD10:Q87.2														https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome				owl:Class
MONDO:0013220	biolink:NamedThing	hemochromatosis type 2B	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.	mondoexuq1wtf	hemochromatosis type 2 caused by mutation in HAMP|HFE2B|HAMP hemochromatosis type 2|hemochromatosis, type 2B											MESH:C566557|OMIM:613313|UMLS:C1865616|DOID:0111032																		owl:Class
MONDO:0019257	biolink:NamedThing	hemochromatosis type 2	Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	mondoexuq1wtf	iron overload disease juvenile|HFE2|hemochromatosis juvenile|juvenile hemochromatosis|JHH											GARD:0010092|MESH:C537247|SCTID:50855007|Orphanet:79230|ICD10:E83.1|DOID:0111034|UMLS:CN205842																		owl:Class
MONDO:0013419	biolink:NamedThing	complement component C1s deficiency	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.	mondoexuq1wtf	C1s deficiency|C1SD|complement component C1s deficiency											UMLS:C3151078|OMIM:613783|MESH:C565170																		owl:Class
MONDO:0004932	biolink:NamedThing	null-cell leukemia		mondoexuq1wtf	null cell acute lymphoblastic leukemia											SCTID:277574007|DOID:9954|UMLS:C0023483																		owl:Class
MONDO:0007344	biolink:NamedThing	cluster headache, familial	An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary cluster headache syndrome|cluster headache, familial											OMIM:119915|MESH:C566117|UMLS:C1861513																		owl:Class
MONDO:0021522	biolink:NamedThing	benign neoplasm of lower jaw bone	A benign neoplasm that involves the bone of lower jaw.	mondoexuq1wtf	bone of lower jaw benign neoplasm											ICD9:213.1|NCIT:C34417|SCTID:92208007|ICD10:D16.5|UMLS:C0004994																		owl:Class
MONDO:0012083	biolink:NamedThing	autosomal dominant nonsyndromic deafness 28	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.	mondoexuq1wtf	autosomal dominant deafness 28|autosomal dominant nonsyndromic deafness type 28|GRHL2 autosomal dominant nonsyndromic deafness|DFNA28|deafness, autosomal dominant 28|deafness, autosomal dominant type 28|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2											MESH:C563890|OMIM:608641|ICD10:H90.3|DOID:0110557|UMLS:C1837640																		owl:Class
MONDO:0003412	biolink:NamedThing	retroperitoneal hemangiopericytoma	A benign or malignant hemangiopericytoma arising from the retroperitoneum.	mondoexuq1wtf	retroperitoneal space hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						DOID:5373|NCIT:C5386|UMLS:C1335777																		owl:Class
MONDO:0021539	biolink:NamedThing	hamartoma of skin appendage	A hamartoma (disease) that involves the cutaneous appendage.	mondoexuq1wtf	skin appendage hamartoma|cutaneous appendage hamartoma (disease)											ICD9:759.6|UMLS:C1302712|NCIT:C5562|SCTID:399906000																		owl:Class
MONDO:0003007	biolink:NamedThing	childhood kidney cell carcinoma	A renal cell carcinoma that occurs during childhood.	mondoexuq1wtf	pediatric kidney cell carcinoma|childhood kidney cell carcinoma|pediatric renal cell carcinoma|childhood renal cell carcinoma|renal cell cancer|pediatric renal cell carcinoma (disease)|renal cell carcinoma (disease) of childhood|childhood renal cell carcinoma (disease)											UMLS:C1333001|DOID:4454|NCIT:C6568																		owl:Class
MONDO:0005972	biolink:NamedThing	streptococcal pneumonia	A febrile disease caused by streptococcus pneumoniae.	mondoexuq1wtf	Streptococcus pneumonia|Streptococcus pneumoniae caused pneumonia|pneumonia due to streptococcus|streptococcal pneumonia|pneumococcal pneumonia|pneumonia caused by streptococcus|Streptococcus pneumoniae pneumonia											ICD10:J13|SCTID:233607000|MESH:D011018|ICD9:481|EFO:0007499|ICD9:482.39|ICD9:482.30|DOID:0040084|UMLS:C0155862																		owl:Class
MONDO:0005114	biolink:NamedThing	pneumococcal infection	Infections with bacteria of the species streptococcus pneumoniae.	mondoexuq1wtf	infection, Streptococcus pneumoniae|infections, Streptococcus pneumoniae|Streptococcus pneumoniae infectious disease|Streptococcus pneumoniae caused disease or disorder|infection, pneumococcal|infections, pneumococcal|pneumococcal infection|pneumoniae infection, Streptococcus|Streptococcus pneumoniae infections|pneumoniae infections, Streptococcus|Streptococcus pneumoniae disease or disorder|Streptococcus pneumoniae infection											EFO:0000772|ICD9:041.2|SCTID:16814004|MESH:D011008|UMLS:C0032269																		owl:Class
MONDO:0000369	biolink:NamedThing	abdominal tuberculosis	An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.	mondoexuq1wtf	tuberculosis of abdomen											DOID:0050599|UMLS:C0740652|SCTID:447330002|ICD9:014.80																		owl:Class
MONDO:0012720	biolink:NamedThing	Krabbe disease, atypical, due to saposin A deficiency		mondoexuq1wtf	saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency											UMLS:C2673266|MESH:C567097|OMIM:611722|GARD:0010289														https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency				owl:Class
MONDO:0002648	biolink:NamedThing	mammary Paget disease	A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.	mondoexuq1wtf	breast Paget disease|Paget's disease of the breast|Paget's disease of breast|mammary Paget's disease|mammary Paget disease|Paget cell neoplasm|Paget disease of the breast											NCIT:C47857|UMLS:CN200478|ICDO:8540/3|DOID:3443																		owl:Class
MONDO:0007732	biolink:NamedThing	Holt-Oram syndrome	Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	mondoexuq1wtf	ventriculo-radial syndrome|Cardiac-limb syndrome|atrio digital syndrome|Holt-Oram syndrome|heart-hand syndrome, type 1|HOLT-Oram syndrome|atriodigital dysplasia|atrio-digital syndrome|HOS 1|HOS|heart-hand syndrome type 1|Hos1|heart-hand syndrome|atriodigital dysplasia type 1											GARD:0006666|MESH:C535326|NCIT:C125592|ICD10:Q87.2|OMIM:142900|Orphanet:392|DOID:0060468|SCTID:19092004|UMLS:C0265264|MedDRA:10050469|ICD9:759.89																		owl:Class
MONDO:0032885	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Isidor-Toutain type		mondoexuq1wtf	SEMDIST|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE											OMIM:618728																		owl:Class
MONDO:0022510	biolink:NamedThing	atlanto-axial fusion		mondoexuq1wtf	atlantoaxial joint fusion|atlantoaxial fusion											MESH:C538196|GARD:0009219														https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion				owl:Class
MONDO:0005201	biolink:NamedThing	restrictive cardiomyopathy	A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.	mondoexuq1wtf	cardiomyopathy, constrictive|primary restrictive cardiomyopathy|familial restrictive cardiomyopathy|restrictive cardiomyopathy											UMLS:C0007196|ICD9:425.4|SCTID:415295002|DOID:397|MESH:D002313|EFO:0002630|NCIT:C62798|Orphanet:217632|MedDRA:10038748|ICD10:I42.5																		owl:Class
MONDO:0043077	biolink:NamedThing	weinstein kliman scully syndrome		mondoexuq1wtf	cardiomyopathy, hypogonadism and metabolic anomalies|primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities											MESH:C536688|UMLS:C2931289|GARD:0000392																		owl:Class
MONDO:0014357	biolink:NamedThing	intellectual disability, autosomal dominant 24	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.	mondoexuq1wtf	DEAF1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|autosomal dominant non-syndromic intellectual disability 24|intellectual disability, autosomal dominant type 24|mental retardation, autosomal dominant 24|intellectual disability, autosomal dominant 24|mental retardation, autosomal dominant type 24|MRD24|autosomal dominant mental retardation 24|autosomal dominant intellectual disability 24											DOID:0070054|UMLS:C4014414|OMIM:615828																		owl:Class
MONDO:0013225	biolink:NamedThing	congenital generalized lipodystrophy type 4	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.	mondoexuq1wtf	lipodystrophy, congenital generalized, type 4|CAVIN1 congenital generalized lipodystrophy (disease)|CGL4|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|generalized congenital lipodystrophy with myopathy|Brunzell syndrome AGPAT2-related|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|GCL4|BSCL4|generalized congenital lipodystrophy type 4|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy											UMLS:C2750069|DOID:0111138|MESH:C567642|ICD10:E88.1|OMIM:613327|Orphanet:228429|GARD:0010937																		owl:Class
MONDO:0004478	biolink:NamedThing	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.	mondoexuq1wtf	CLL/SLL with unmutated IGVH|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene											NCIT:C37204|DOID:8144|UMLS:C1333038																		owl:Class
MONDO:0003864	biolink:NamedThing	chronic lymphocytic leukemia/small lymphocytic lymphoma	An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.	mondoexuq1wtf	chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma											NCIT:C27911|DOID:6354|ICDO:9823/3|ONCOTREE:CLLSLL|UMLS:C1302547																		owl:Class
MONDO:0016823	biolink:NamedThing	mycetoma	Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.	mondoexuq1wtf	Madura foot											GARD:0003862|MESH:D008271|SCTID:410039003|UMLS:C0024449|ICD10:B47.0|NCIT:C85505|ICD10:B47|Orphanet:2583|MedDRA:10028427|ICD10:B47.1|ICD10:B47.9																		owl:Class
MONDO:0014896	biolink:NamedThing	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		mondoexuq1wtf	congenital muscular dystrophy, Davignon-Chauveau type|MDCDC|muscular dystrophy, congenital, Davignon-Chauveau type											UMLS:C4310736|Orphanet:486815|OMIM:617066																		owl:Class
MONDO:0022647	biolink:NamedThing	cardiomelic syndrome stratton Koehler type		mondoexuq1wtf												GARD:0001099														https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type				owl:Class
MONDO:0004094	biolink:NamedThing	multiple skull base meningioma	Multiple meningiomas that affect the skull base.	mondoexuq1wtf	multiple skull base meningiomas											DOID:7054|UMLS:C1334829|NCIT:C5279																		owl:Class
MONDO:0011473	biolink:NamedThing	Leber congenital amaurosis 5	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.	mondoexuq1wtf	Leber congenital amaurosis 5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in LCA5|amaurosis congenita of Leber, type 5|LCA5|Leber congenital amaurosis type 5											ICD10:H35.5|MESH:C536602|GARD:0009983|UMLS:C1858301|DOID:0110215|OMIM:604537														https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5				owl:Class
MONDO:0002958	biolink:NamedThing	signet ring basal cell carcinoma		mondoexuq1wtf	skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma|signet Ring cell basal cell carcinoma											DOID:4304|UMLS:C1519320|NCIT:C38110																		owl:Class
MONDO:0005700	biolink:NamedThing	chickenpox	A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.	mondoexuq1wtf	Varicella|chicken pox infection|chickenpox|varicella|chicken pox											COHD:434272|ICD10:B01|UMLS:C0008049|DOID:8659|NCIT:C97132|EFO:0007204|ICD10:B01.9|ICD9:052.9|MESH:D002644|SCTID:38907003|ICD9:052																		owl:Class
MONDO:0005608	biolink:NamedThing	varicella zoster infection	A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.	mondoexuq1wtf	varicella zoster infection|Varicella-zoster Virus infection											UMLS:C0586989|NCIT:C96407|ICD9:052.7|SCTID:309465005|EFO:0006509																		owl:Class
MONDO:0019056	biolink:NamedThing	neuromuscular disease	Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions	mondoexuq1wtf	nerve and muscle disorder|neuromuscular disease											ICD10:G70.9|MESH:D009468|ICD9:358|Orphanet:68381|MedDRA:10029323|UMLS:C0027868|ICD9:358.9|EFO:1001902|DOID:440																		owl:Class
MONDO:0019518	biolink:NamedThing	Waardenburg-Shah syndrome	Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.	mondoexuq1wtf	Waardenburg-Hirschsprung disease|Shah-Waardenburg syndrome|Hirschsprung disease with pigmentary anomaly|WS4|Waardenburg-Hirschsprung syndrome|Waardenburg syndrome type 4|Waardenburg syndrome type IV|Waardenburg-Shah syndrome											ICD10:Q87.8|GARD:0005524|UMLS:CN206330|Orphanet:897|NCIT:C124842														https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4				owl:Class
MONDO:0019948	biolink:NamedThing	reducing body myopathy	Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.	mondoexuq1wtf												Orphanet:97239|GARD:0012162|DOID:0080090|SCTID:42779002|ICD9:359.89|ICD10:G71.2														https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy				owl:Class
MONDO:0023013	biolink:NamedThing	Duker-Weiss-Siber syndrome		mondoexuq1wtf	Duker Weiss Siber syndrome|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism|microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism											UMLS:C2930993|GARD:0001918|MESH:C535719														https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome				owl:Class
MONDO:0043953	biolink:NamedThing	burkholderia infectious disease	Infections with bacteria of the genus Burkholderia.	mondoexuq1wtf	Burkholderia infectious disease|Burkholderia disease or disorder|infections, Burkholderia|infection, Burkholderia|Burkholderia infection|infection caused by Burkholderia|burkholderia infectious disease|Burkholderia caused disease or disorder											MESH:D019121|SCTID:721736003|EFO:1001280																		owl:Class
MONDO:0002411	biolink:NamedThing	narcissistic personality disorder	A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.	mondoexuq1wtf												SCTID:80711002|COHD:440080|DOID:2745|ICD9:301.81|ICD10:F60.81|NCIT:C92635																		owl:Class
MONDO:0002419	biolink:NamedThing	transient tic disorder	A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.	mondoexuq1wtf	benign Tic disorder of childhood											SCTID:56573006|DOID:2768|ICD10:F95.0|ICD9:307.21|COHD:4210636|NCIT:C116767																		owl:Class
MONDO:0002420	biolink:NamedThing	tic disorder	Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)	mondoexuq1wtf												DOID:2769|ICD9:307.2|ICD10:F95|ICD9:307.20|MESH:D013981|SCTID:568005|COHD:381839|ICD10:F95.9																		owl:Class
MONDO:0009422	biolink:NamedThing	hypohidrosis with abnormal palmar dermal Ridges		mondoexuq1wtf	sweat gland hypoplasia|hypohidrosis with abnormal palmar dermal Ridges											OMIM:241120|MESH:C565481|UMLS:C1855856																		owl:Class
MONDO:0008763	biolink:NamedThing	Alstrom syndrome	A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.	mondoexuq1wtf	Alström syndrome|ALSS|Alstrom's syndrome|ALMS|Alstrom syndrome											Orphanet:64|SCTID:63702009|UMLS:C0268425|DOID:0050473|ICD10:Q87.8|GARD:0005787|NCIT:C84549|MedDRA:10068783|ICD9:759.89|MESH:D056769|OMIM:203800														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0002342	biolink:NamedThing	chondromalacia	Pathological processes involving the chondral tissue (cartilage).	mondoexuq1wtf												DOID:2557|COHD:438531|ICD10:M94.20|ICD10:M94.2|SCTID:63198006|UMLS:C0085700|ICD9:733.92																		owl:Class
MONDO:0001353	biolink:NamedThing	Bordetella parapertussis infectious disease	Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.	mondoexuq1wtf	Bordetella parapertussis disease or disorder|Bordetella parapertussis whooping cough|Bordetella parapertussis infection|Bordetella parapertussis caused disease or disorder|infection due to Bordetella parapertussis|infection caused by Bordetella parapertussis											ICD9:033.1|UMLS:C0275742|DOID:11750|SCTID:77116006|ICD10:A37.1																		owl:Class
MONDO:0037872	biolink:NamedThing	bordetellosis	Any disease caused by infection with organisms of the genus Bordetella.	mondoexuq1wtf	Infections, Bordetella|Bordetellosis|Infection, Bordetella|Bordetella infectious disease|Bordetella caused disease or disorder|Bordetella Infections|bordetellosis|Bordetella infection|Bordetella disease or disorder|INFECT BORDETELLA|Bordetella Infection					B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep.					MONDO:0020758	MESH:D001885|UMLS:C0006015|SCTID:26484003|ICD9:041.85|EFO:1001275																		owl:Class
MONDO:0004366	biolink:NamedThing	mixed astrocytoma-ependymoma-oligodendroglioma	A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.	mondoexuq1wtf	mixed astrocytoma-ependymoma-oligodendroglioma											NCIT:C8272|DOID:7817|UMLS:C0280792																		owl:Class
MONDO:0003268	biolink:NamedThing	mixed glioma	A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).	mondoexuq1wtf	mixed glial neoplasm|mixed neuroglial tumor|mixed glioma (morphologic abnormality)|glioma, mixed, malignant|glioma, mixed|mixed glial tumor|mixed neuroglial neoplasm|mixed gliomas|mixed glioma											NCIT:C3903|DOID:5076|SCTID:443937008|ICDO:9382/3|UMLS:C0259783																		owl:Class
MONDO:0020073	biolink:NamedThing	adolescent-onset epilepsy syndrome		mondoexuq1wtf						This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						UMLS:CN206977|Orphanet:98260|ICD10:G40.4														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0015838	biolink:NamedThing	cordiform uterus		mondoexuq1wtf	uterus arcuatus|uterus cordiformis											Orphanet:180118|SCTID:14689000|ICD10:Q51.3																		owl:Class
MONDO:0015837	biolink:NamedThing	Unicervical bicornuate uterus		mondoexuq1wtf												ICD10:Q51.3|Orphanet:180114																		owl:Class
MONDO:0008899	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 2	Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	Guadalajara camptodactyly syndrome type II|camptodactyly syndrome, Guadalajara, type II|camptodactyly syndrome, Guadalajara, type 2|camptodactyly syndrome Guadalajara type 2											OMIM:211920|MESH:C567138|SCTID:720603002|Orphanet:1326|ICD10:Q87.1|GARD:0001068														https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2				owl:Class
MONDO:0001654	biolink:NamedThing	spermatic cord cancer	A malignant neoplasm involving the spermatic cord.	mondoexuq1wtf	spermatic cord Ca|cancer of spermatic cord|malignant tumor of the spermatic cord|malignant spermatic cord neoplasm|malignant spermatic cord tumor|malignant tumor of spermatic cord|malignant neoplasm of spermatic cord|spermatic cord cancer|malignant neoplasm of the spermatic cord											SCTID:363453008|NCIT:C3559|DOID:13169|ICD10:C63.1|UMLS:C0153603|ICD9:187.6																		owl:Class
MONDO:0015849	biolink:NamedThing	longitudinal vaginal septum		mondoexuq1wtf												HP:0008740|ICD10:Q52.1|Orphanet:180157																		owl:Class
MONDO:0015848	biolink:NamedThing	septate vagina		mondoexuq1wtf						Editor note: consider ceding this and subclasses to HPO						COHD:4186281|ICD9:752.49|HP:0001153|Orphanet:180154|ICD10:Q52.1|SCTID:47054003																		owl:Class
MONDO:0020756	biolink:NamedThing	migraine, familial hemiplegic, 1		mondoexuq1wtf	migraine, sporadic hemiplegic|migraine, familial hemiplegic, 1|MHP1|FHM1|migraine, familial hemiplegic, type 1|familial hemiplegic migraine type 1|hemiplegic migraine, familial type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia											GARD:0002638|OMIM:141500|DOID:0111181																		owl:Class
MONDO:0000700	biolink:NamedThing	familial hemiplegic migraine	A migraine disorder characterized by individual and family history of aura that includes motor weakness.	mondoexuq1wtf	FHM|hemiplegic-ophthalmoplegic migraine|hereditary hemiplegic migraine|hemiplegic migraine, familial											ICD9:346.8|OMIMPS:141500|GARD:0010975|DOID:0060178|NCIT:C117009|ICD10:G43.8|SCTID:95656000																		owl:Class
MONDO:0019436	biolink:NamedThing	psoriasis-related juvenile idiopathic arthritis	Childhood arthritis typically associated with psoriasis.	mondoexuq1wtf	juvenile psoriatic arthritis|psoriasis-related JIA|JPsA											SCTID:239802003|GARD:0010970|ICD10:M09.0*|ICD10:L40.5+|Orphanet:85436|NCIT:C114361																		owl:Class
MONDO:0004463	biolink:NamedThing	cellular phase chronic idiopathic myelofibrosis	Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.	mondoexuq1wtf	chronic idiopathic myelofibrosis, Prefibrotic stage|chronic idiopathic myelofibrosis, cellular phase|Prefibrotic/Early Primary myelofibrosis|primary myelofibrosis, Prefibrotic stage|PMFPES|primary myelofibrosis, Prefibrotic/early stage											DOID:8106|ONCOTREE:PMFPES|NCIT:C41237|UMLS:C1516553																		owl:Class
MONDO:0005213	biolink:NamedThing	uterine carcinoma	A carcinoma involving a uterus.	mondoexuq1wtf	carcinoma of uterus|uterus carcinoma											EFO:0002919|SCTID:446022000|UMLS:C2960452																		owl:Class
MONDO:0015063	biolink:NamedThing	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.	mondoexuq1wtf	duodenal neuroendocrine tumor											UMLS:CN197356|Orphanet:100076|NCIT:C135080																		owl:Class
MONDO:0010329	biolink:NamedThing	intellectual disability, X-linked 77		mondoexuq1wtf	mental retardation, X-linked 77|MRX77|intellectual disability, X-linked 77											MESH:C564511|OMIM:300454|UMLS:C1845499																		owl:Class
MONDO:0042495	biolink:NamedThing	arteriosclerotic retinopathy	A arteriosclerosis disorder that involves the retina.	mondoexuq1wtf	retinal arteriosclerosis|retinopathy, arteriosclerotic|retina arteriosclerosis disorder|arteriosclerotic retinopathy|arteriosclerosis disorder of retina|arteriosclerosis, retina											ICD9:440.8|UMLS:C0339478|SCTID:95691008|GARD:0000113																		owl:Class
MONDO:0006191	biolink:NamedThing	endometrial clear cell adenocarcinoma	A clear cell adenocarcinoma that involves the endometrium.	mondoexuq1wtf	endometrium clear cell adenocarcinoma|endometrial clear cell adenocarcinoma|clear cell carcinoma of endometrium|clear cell carcinoma of the endometrium											NCIT:C8028|EFO:1000231|DOID:5299|UMLS:C0279765																		owl:Class
MONDO:0013769	biolink:NamedThing	atrioventricular septal defect 5	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.	mondoexuq1wtf	AVSD5|atrioventricular septal defect 5|GATA6 atrioventricular septal defect|atrioventricular septal defect caused by mutation in GATA6|atrioventricular septal defect type 5											UMLS:C3280939|OMIM:614474																		owl:Class
MONDO:0011675	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate A	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.	mondoexuq1wtf	Di-Cmta|Charcot-Marie-Tooth neuropathy dominant intermediate A|Charcot-Marie-Tooth disease dominant intermediate type A|Charcot-Marie-Tooth disease, dominant intermediate A|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|DI-CMTA|CMTDIA											MESH:C564702|GARD:0012437|DOID:0110202|Orphanet:100043|ICD10:G60.0|OMIM:606483|SCTID:765744006|UMLS:C1847896																		owl:Class
MONDO:0019548	biolink:NamedThing	autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.	mondoexuq1wtf	autosomal dominant intermediate Charcot-Marie-Tooth|CMTDI|intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth disease											GARD:0012436|UMLS:CN206376|Orphanet:90114|ICD10:G60.0																		owl:Class
MONDO:0015792	biolink:NamedThing	transient congenital hypothyroidism	A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.	mondoexuq1wtf	hypothyroxinemia of prematurity|THOP|transient hypothyroxinemia of prematurity											NCIT:C113171|Orphanet:178045|UMLS:C3827793|SCTID:119181000119104																		owl:Class
MONDO:0016458	biolink:NamedThing	8q12 microduplication syndrome	The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.	mondoexuq1wtf	dup(8)(q12)|chromosome 8q12 microduplication syndrome|trisomy 8q12											UMLS:CN201422|ICD10:Q92.3|Orphanet:228399|SCTID:719684000|GARD:0012816|UMLS:C4304504														https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome				owl:Class
MONDO:0007045	biolink:NamedThing	acrofacial dysostosis, Catania type	Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	mondoexuq1wtf	AFD Catania type|acrofacial dysostosis, Catania type|Opitz Mollica Sorge syndrome|Afd, Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type											MESH:C538182|SCTID:720419000|DOID:0060384|GARD:0000494|Orphanet:1786|ICD10:Q75.4|UMLS:C2931762|OMIM:101805																		owl:Class
MONDO:0010269	biolink:NamedThing	Coats disease	Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.	mondoexuq1wtf	Coats disease|Leber miliary aneurysm|retinal telangiectasis|exudative retinopathy|Coats' syndrome|congenital retinal telangiectasia|Coats' disease											ICD10:H35.07|SCTID:360455002|COHD:373756|DOID:7765|MedDRA:10015901|Orphanet:190|GARD:0006121|MESH:D058456|ICD10:H35.02|UMLS:C0154832|OMIM:300216|ICD10:H35.0|ICD9:362.12														https://rarediseases.info.nih.gov/diseases/6121/coats-disease				owl:Class
MONDO:0001443	biolink:NamedThing	tympanosclerosis	The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.	mondoexuq1wtf												DOID:1214|SCTID:23606001|ICD10:H74.0|ICD9:385.00|MESH:D063371|COHD:378765|ICD9:385.09																		owl:Class
MONDO:0003648	biolink:NamedThing	tympanic membrane disease	A disease involving the tympanic membrane.	mondoexuq1wtf	tympanic membrane disease or disorder|tympanic membrane disease|disorder of tympanic membrane|disease of tympanic membrane|disease or disorder of tympanic membrane											SCTID:21426000|ICD10:H73.9|DOID:5782|ICD10:H73.90|UMLS:C0041825|ICD9:384.9																		owl:Class
MONDO:0012531	biolink:NamedThing	xeroderma pigmentosum group B	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.	mondoexuq1wtf	xeroderma pigmentosum, type 2|XP-B|xeroderma pigmentosum, complementation group type B|XP, Group B|XPB/CS|ERCC3 xeroderma pigmentosum|XPBC|XP group B|xeroderma pigmentosum group type B|XPB|xeroderma pigmentosum caused by mutation in ERCC3|xeroderma pigmentosum, complementation group B|xeroderma pigmentosum B/Cockayne syndrome											DOID:0110850|Orphanet:276252|UMLS:C0268136|SCTID:1073003|MESH:C562590|GARD:0005625|OMIM:610651|ICD10:Q82.1|NCIT:C3966																		owl:Class
MONDO:0044889	biolink:NamedThing	high grade B-cell lymphoma	A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.	mondoexuq1wtf	high-grade B-cell lymphoma|high grade B-cell lymphoma|HGBL											SCTID:277617004|NCIT:C138211|UMLS:C0456863																		owl:Class
MONDO:0008196	biolink:NamedThing	parastremmatic dwarfism	Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.	mondoexuq1wtf	Parastremmatic dysplasia|parastremmatic dwarfism											Orphanet:2646|MESH:C537172|GARD:0004222|SCTID:722210007|OMIM:168400|ICD10:Q87.1|DOID:0111539														https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism				owl:Class
MONDO:0004778	biolink:NamedThing	epididymo-orchitis	A disorder involving inflammation of the epididymis and testes.	mondoexuq1wtf												DOID:9401|UMLS:C0149881|SCTID:197983000|ICD9:604|ICD10:N45.3|ICD9:604.90|ICD10:N45																		owl:Class
MONDO:0015281	biolink:NamedThing	atrial standstill	Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.	mondoexuq1wtf	atrial cardiomyopathy with heart block											ICD9:426.6|Orphanet:1344|SCTID:450919004|ICD10:I45.5|DC:0000699|UMLS:CN199216																		owl:Class
MONDO:0003775	biolink:NamedThing	lateral ventricle meningioma	A meningioma that affects the lateral ventricle of the brain.	mondoexuq1wtf	meningioma of lateral ventricle|meningioma (disease) of telencephalic ventricle|telencephalic ventricle meningioma (disease)|meningioma of the lateral ventricle											UMLS:C1334380|DOID:6115|NCIT:C5302																		owl:Class
MONDO:0003772	biolink:NamedThing	cerebral meningioma	A meningioma that affects the cerebral hemispheres.	mondoexuq1wtf	cerebral hemispheric meningioma|meningioma of the cerebral hemispheres|meningioma of the cerebrum|meningioma of cerebral hemispheres|telencephalon meningioma (disease)|meningioma (disease) of telencephalon|meningioma of cerebrum											UMLS:C0542564|SCTID:189164002|NCIT:C4807|DOID:6112																		owl:Class
MONDO:0000931	biolink:NamedThing	endometrial disease	A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.	mondoexuq1wtf	disease or disorder of endometrium|disease of endometrium|disorder of endometrium|endometrium disease or disorder|endometrium disease|endometrial disorder											NCIT:C3504|DOID:1005|SCTID:418632009																		owl:Class
MONDO:0017483	biolink:NamedThing	humeral agenesis/hypoplasia, bilateral		mondoexuq1wtf	humeral intercalary meromelia, bilateral											ICD10:Q71.8|Orphanet:295063																		owl:Class
MONDO:0017440	biolink:NamedThing	humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.	mondoexuq1wtf	congenital hypoplasia of humerus|congenital absence of humerus|humeral intercalary meromelia											ICD10:Q71.8|Orphanet:294973																		owl:Class
MONDO:0002564	biolink:NamedThing	jejunal neoplasm	A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.	mondoexuq1wtf	neoplasm of the jejunum|jejunum neoplasm (disease)|jejunum neoplasm|tumor of jejunum|neoplasm of jejunum|jejunal tumor|jejunum tumor|tumor of the jejunum											MESH:D007580|DOID:3218|UMLS:C0022374|SCTID:126834003|NCIT:C8401																		owl:Class
MONDO:0001416	biolink:NamedThing	female reproductive organ cancer	A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.	mondoexuq1wtf	malignant neoplasm of the female reproductive system|malignant neoplasm of female reproductive organ|gynecologic cancer|malignant female reproductive organ neoplasm|cancer of female reproductive organ|malignant neoplasm of female genital organ|malignant female reproductive system neoplasm|malignant female reproductive system tumor|malignant tumor of the female reproductive system|female reproductive organ cancer|malignant gynecologic tumor|female reproductive cancer|malignant tumor of female reproductive system|malignant neoplasm of female reproductive system|malignant gynecologic neoplasm											DOID:120|NCIT:C4913|ICD9:184|SCTID:126907002|ICD10:C51.C58|ICD10:C57																		owl:Class
MONDO:0009461	biolink:NamedThing	male infertility due to large-headed multiflagellar polyploid spermatozoa	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).	mondoexuq1wtf	spermatogenic failure type 5|spermatogenic failure 5|macrocephalic sperm head syndrome|infertility associated with multi-tailed spermatozoa and excessive DNA|Male infertility due to macrozoospermia|infertility associated with Multitailed spermatozoa and excessive DNA|SPGF5|Male infertility with large-headed, multiflagellar, polyploid spermatozoa|macrozoospermia											OMIM:243060|Orphanet:137893|DOID:0070183|GARD:0012385|SCTID:236806004|ICD10:N46|UMLS:C0403812|MESH:C562903																		owl:Class
MONDO:0002469	biolink:NamedThing	lacrimal gland carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.	mondoexuq1wtf	carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|mixed lacrimal gland cancer|carcinoma ex pleomorphic adenoma of the lacrimal gland|carcinoma ex pleomorphic adenoma of lacrimal gland|malignant mixed neoplasm of the lacrimal gland|lacrimal gland malignant mixed neoplasm|lacrimal gland malignant mixed tumor|malignant mixed tumor of the lacrimal gland|malignant mixed tumor of lacrimal gland										MONDO:0021278	DOID:296|NCIT:C6804|SCTID:254989000|UMLS:C0346342																		owl:Class
MONDO:0002472	biolink:NamedThing	carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.	mondoexuq1wtf	carcinoma ex pleomorphic adenoma (morphologic abnormality)|carcinoma ex pleomorphic adenoma|carcinoma in pleomorphic adenoma											NCIT:C4397|UMLS:C0344460|ICDO:8941/3																		owl:Class
MONDO:0000626	biolink:NamedThing	vestibular gland benign neoplasm	A benign neoplasm that involves the vestibular gland.	mondoexuq1wtf	vestibular gland benign neoplasm											DOID:0060088																		owl:Class
MONDO:0019903	biolink:NamedThing	ring chromosome 2	Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).	mondoexuq1wtf	Ring chromosome 2 syndrome|rose cluster 2|chromosome 2 ring|Ring 2|R2|Ring chromosome type 2											Orphanet:96171|NCIT:C121981|SCTID:765485000|GARD:0010837|ICD10:Q93.2|UMLS:C4707448														https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2				owl:Class
MONDO:0013654	biolink:NamedThing	aneurysm, intracranial berry, 11		mondoexuq1wtf	aneurysm, intracranial BERRY, 11|ANIB11											OMIM:614252|UMLS:C3280275																		owl:Class
MONDO:0009504	biolink:NamedThing	mitochondrial DNA depletion syndrome 9	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	mondoexuq1wtf	mitochondrial DNA depletion syndrome type 9|MTDPS9|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|lactic acidosis congenital infantile|succinate-CoA ligase deficiency|lactic acidosis, fatal infantile, formerly|lactic acidosis, fatal infantile|SUCLG1 mitochondrial DNA depletion syndrome|fatal infantile lactic acidosis with methylmalonic aciduria											Orphanet:17|MESH:C538134|MESH:C566885|ICD10:E71.1|SCTID:715338007|OMIM:245400|GARD:0003163|DOID:0080128														https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile				owl:Class
MONDO:0013260	biolink:NamedThing	esophagitis, eosinophilic, 2		mondoexuq1wtf	EOE2|esophagitis, eosinophilic, 2											OMIM:613412|UMLS:C3150679																		owl:Class
MONDO:0016554	biolink:NamedThing	neonatal iodine exposure	Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.	mondoexuq1wtf	iodine antenatal exposure											ICD10:P72.2|GARD:0003025|Orphanet:238688|UMLS:CN226956																		owl:Class
MONDO:0015654	biolink:NamedThing	idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes		mondoexuq1wtf												Orphanet:166475|UMLS:CN200064																		owl:Class
MONDO:0004371	biolink:NamedThing	spinal multifocal clear cell meningioma	A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.	mondoexuq1wtf	multifocal clear cell meningioma of spine|spinal multifocal clear cell meningioma|multifocal clear cell meningioma of the spine											DOID:7824|NCIT:C5287|UMLS:C1336051																		owl:Class
MONDO:0002918	biolink:NamedThing	clear cell meningioma	A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.	mondoexuq1wtf	clear cell meningioma (morphologic abnormality)|CCM|clear cell meningioma											NCIT:C4722|EFO:1000180|ICDO:9538/1|UMLS:C0431121|ONCOTREE:CCM|DOID:4210																		owl:Class
MONDO:0009825	biolink:NamedThing	5-oxoprolinase deficiency	5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.	mondoexuq1wtf	inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|oxoprolinuria due to oxoprolinase deficiency|5-oxoprolinase deficiency (disease)|5-alpha-oxoprolinase deficiency|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|OPLAHD|oxoprolinuria due to 5-oxoprolinase deficiency|5-oxoprolinase deficiency		5-oxoprolinase deficiency (disease)									ICD9:270.8|GARD:0005681|HP:0040142|OMIM:260005|SCTID:26132002|Orphanet:33572|MESH:C535322|ICD10:E72.8|UMLS:C0268525																		owl:Class
MONDO:0001073	biolink:NamedThing	idiopathic progressive polyneuropathy		mondoexuq1wtf												UMLS:C0154756|DOID:10593|SCTID:33209009|COHD:380394|ICD9:356.4																		owl:Class
MONDO:0006632	biolink:NamedThing	osteoarthritis, hand	Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).	mondoexuq1wtf												EFO:1000789																		owl:Class
MONDO:0005178	biolink:NamedThing	osteoarthritis	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.	mondoexuq1wtf	osteoarthrosis|degenerative arthritis|degenerative joint disease|osteoarthrosis and allied disorder|hypertrophic arthritis											ICD9:715.3|ICD10:M19|EFO:0002506|MESH:D010003|HP:0002758|GARD:0011929|NCIT:C3293|COHD:80180|DOID:8398																		owl:Class
MONDO:0004412	biolink:NamedThing	malignant spiradenoma	A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.	mondoexuq1wtf	Spiradenocarcinoma|malignant spiradenoma|spiradenoma, malignant|malignant eccrine spiradenoma|malignant eccrine spiradenoma (morphologic abnormality)											UMLS:C1266063|GARD:0010466|ICDO:8403/3|NCIT:C5117|DOID:7960|SCTID:403942003																		owl:Class
MONDO:0005057	biolink:NamedThing	large cell neuroendocrine carcinoma	A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.	mondoexuq1wtf	large-cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma|LCNEC|large cell NEC											ONCOTREE:LUNE|ICDO:8013/3|DOID:0050872|EFO:0000563|UMLS:C1265996|NCIT:C6875																		owl:Class
MONDO:0013392	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 10	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.	mondoexuq1wtf	autosomal recessive cerebellar ataxia caused by mutation in ANO10|SCAR10|spinocerebellar ataxia, autosomal recessive 10|adult-onset autosomal recessive cerebellar ataxia|ANO10 autosomal recessive cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 10|spinocerebellar ataxia, autosomal recessive type 10											ICD10:G11.2|Orphanet:284289|UMLS:C3150998|OMIM:613728|DOID:0050999																		owl:Class
MONDO:0014866	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2T	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, type 2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|Charcot-Marie-Tooth disease, axonal, type 2t|AR-CMT2T|CMT2T|DNAJB2-related CMT2|Charcot-Marie-Tooth neuropathy, type 2T|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|Charcot-Marie-Tooth neuropathy type 2T|DNAJB2-related Charcot-Marie-Tooth disease type 2											Orphanet:443950|OMIM:617017|ICD10:G60.0|DOID:0110160|UMLS:C4015635																		owl:Class
MONDO:0013572	biolink:NamedThing	Keppen-Lubinsky syndrome		mondoexuq1wtf	generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|KPLBS|Keppen-Lubinsky syndrome|KEPPEN-Lubinsky syndrome											OMIM:614098|ICD10:E88.1|Orphanet:435628|UMLS:C3279800																		owl:Class
MONDO:0018274	biolink:NamedThing	GM3 synthase deficiency	GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.	mondoexuq1wtf	disorder of lactosylceramide alpha-2,3-sialyltransferase activity|ST3GAL5-CDG|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|SPDRS|salt-and-pepper syndrome|salt and pepper mental retardation syndrome|epilepsy syndrome, infantile-onset symptomatic|salt & pepper syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt and pepper developmental regression syndrome|lactosylceramide alpha-2,3-sialyltransferase activity disease|Amish infantile epilepsy syndrome											UMLS:C1836824|ICD10:E77.8|DOID:0060470|Orphanet:370938|OMIM:609056|Orphanet:370933|SCTID:722762005|Orphanet:171714|GARD:0012059|UMLS:CN204860																		owl:Class
MONDO:0020546	biolink:NamedThing	acute graft versus host disease	A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.	mondoexuq1wtf	GVHD, acute|acute GVHD|graft versus host disease, acute|fulminant graft versus host disease											SCTID:402355000|ICD10:D89.810|COHD:439416|GARD:0006544|ICD10:T86.0|MedDRA:10066260|ICD9:279.51|Orphanet:99920|UMLS:C0856825|NCIT:C4980														https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease				owl:Class
MONDO:0010253	biolink:NamedThing	migraine, familial typical, susceptibility to, 2		mondoexuq1wtf	migraine, familial typical, susceptibility to, 2|Mfts|migraine with or without aura, susceptibility to, 2|migraine, familial typical, susceptibility to, type 2|Mgr2											OMIM:300125																		owl:Class
MONDO:0013585	biolink:NamedThing	hydrolethalus syndrome 2	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.	mondoexuq1wtf	hydrolethalus syndrome type 2|KIF7 hydrolethalus syndrome|HLS2|hydrolethalus syndrome 2|hydrolethalus syndrome caused by mutation in KIF7											DOID:0111356|OMIM:614120|UMLS:C3279899																		owl:Class
MONDO:0014440	biolink:NamedThing	Bardet-Biedl syndrome 12	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.	mondoexuq1wtf	BBS12 Bardet-Biedl syndrome|BBS12|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome 12|Bardet-Biedl syndrome type 12											GARD:0010211|EFO:0009023|OMIM:615989|DOID:0110134|MESH:C565921|ICD10:Q87.89|UMLS:C1859570																		owl:Class
MONDO:0006686	biolink:NamedThing	brain stem infarction	Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.	mondoexuq1wtf	brainstem brain infarction|brain infarction of brainstem|brainstem infarction											SCTID:95457000|ICD9:434.91|UMLS:C0521542|MESH:D020526|EFO:1000847|DOID:3523																		owl:Class
MONDO:0005394	biolink:NamedThing	brain infarction	Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	mondoexuq1wtf												DOID:3454|MESH:D020520|UMLS:C0751955|EFO:0004277																		owl:Class
MONDO:0015591	biolink:NamedThing	limbic encephalitis associated with antibodies to cell membrane antigens		mondoexuq1wtf												ICD10:G13.1|Orphanet:163903																		owl:Class
MONDO:0009829	biolink:NamedThing	pallidal degeneration, progressive, with retinitis pigmentosa		mondoexuq1wtf	pallidal degeneration, progressive, with retinitis pigmentosa											UMLS:C1850101|OMIM:260200|MESH:C564910																		owl:Class
MONDO:0003182	biolink:NamedThing	anterior horn disease	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.	mondoexuq1wtf	ventral horn of spinal cord disease|disease of ventral horn of spinal cord|disorder of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder|disease or disorder of ventral horn of spinal cord					TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND						ICD9:335|ICD9:335.9|DOID:4873																		owl:Class
MONDO:0003261	biolink:NamedThing	papillary meningioma of the cerebellum	A papillary meningioma that affects the cerebellum.	mondoexuq1wtf	papillary meningioma of cerebellum|papillary meningioma of the cerebellum|cerebellum papillary meningioma|cerebellar papillary meningioma											DOID:5057|UMLS:C1332902|NCIT:C5270																		owl:Class
MONDO:0016956	biolink:NamedThing	partial trisomy of the long arm of chromosome 5	Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial duplication of the long arm of chromosome 5|Duplication 5q|partial duplication of chromosome 5q|partial trisomy of chromosome 5q|5q trisomy|partial trisomy of the long arm of chromosome type 5|partial trisomy 5q|trisomy 5q|5q duplication|chromosome 5q duplication											GARD:0005351|MESH:C537650|UMLS:C1802398|Orphanet:262869																		owl:Class
MONDO:0016925	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 5		mondoexuq1wtf	partial trisomy/tetrasomy of chromosome type 5|partial duplication/triplication of chromosome 5											Orphanet:262211																		owl:Class
MONDO:0006795	biolink:NamedThing	hypersplenism	Overactive functioning of the spleen, resulting in excessive destruction of blood cells.	mondoexuq1wtf	hypersplenia|hypersplenism|hypersplenism (disease)		hypersplenism (disease)									EFO:1000975|UMLS:C0020532|ICD10:D73.1|HP:0001971|SCTID:58381000|MedDRA:10020769|COHD:192298|MESH:D006971|DOID:6376|ICD9:289.4|NCIT:C34714																		owl:Class
MONDO:0007932	biolink:NamedThing	age related macular degeneration 2	An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.	mondoexuq1wtf	age related macular degeneration type 2|macular degeneration, age-related, 2|macular Degeneration, Senile|maculopathy, age-related, 2|macular Degeneration, age-related, type 2|ARMD2											MESH:C562479|OMIM:153800|UMLS:C3495438|DOID:0110015																		owl:Class
MONDO:0007920	biolink:NamedThing	Meige disease	Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.	mondoexuq1wtf	LMPH2|hereditary lymphedema type II|late-onset primary lymphedema|lymphedema praecox|Meige disease|lymphedema hereditary type 2|lymphedema preacox|lymphedema, hereditary, II|Meige lymphedema|late-onset lymphedema|lymphedema, late-onset											MESH:C562467|GARD:3324|Orphanet:90186|OMIM:153200|SCTID:400040008|MedDRA:10027138|ICD10:Q82.0|DOID:0070213|GARD:0003324																		owl:Class
MONDO:0011233	biolink:NamedThing	Axenfeld-Rieger syndrome type 3	Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.	mondoexuq1wtf	Axenfeld anomaly|Axenfeld-Rieger syndrome caused by mutation in FOXC1|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior chamber cleavage syndrome|Rieger syndrome type 3|anterior segment mesenchymal dysgenesis|Axenfeld-Rieger anomaly|Rieger anomaly|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|anterior chamber Cleavage syndrome|Rieger syndrome, type 3|Axenfeld-Rieger syndrome, type 3|RIEG3|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|FOXC1 Axenfeld-Rieger syndrome					Editor note: check relationship to MONDO:0007138						OMIM:602482|DOID:0110122|ICD9:743.44|SCTID:22155002|ICD10:Q13.8																		owl:Class
MONDO:0019187	biolink:NamedThing	Axenfeld-Rieger syndrome	Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.	mondoexuq1wtf	RGS - Rieger syndrome|Axenfeld syndrome|anomaly, Rieger's|Rieger's anomaly|Axenfeldt-Rieger syndrome|Rieger syndrome|goniodysgenesis hypodontia|iridogoniodysgenesis with somatic anomalies|Hagedoom syndrome											MedDRA:10059255|UMLS:C3495488|Orphanet:782|OMIMPS:180500|ICD10:Q13.81|NCIT:C131001|GARD:0005701|ICD9:743.44|DOID:14686|MESH:C535679|UMLS:CN776842|ICD10:Q13.8|SCTID:47507006														https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome				owl:Class
MONDO:0017176	biolink:NamedThing	Machado-Joseph disease type 3	Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.	mondoexuq1wtf	spinocerebellar ataxia type 3, Machado type|SCA3, Machado type|azorean disease, type iii											Orphanet:276244|ICD10:G11.8|SCTID:91955005																		owl:Class
MONDO:0008755	biolink:NamedThing	Moynahan syndrome		mondoexuq1wtf	alopecia-epilepsy-oligophrenia syndrome of Moynahan|Moynahan alopecia syndrome|alopecia-epilepsy-intellectual disability syndrome, Moynahan type|alopecia epilepsy oligophrenia syndrome of Moynahan											GARD:0000606|MESH:C537052|ICD10:G40.4|OMIM:203600|Orphanet:2574																		owl:Class
MONDO:0006304	biolink:NamedThing	minor salivary gland adenocarcinoma	An adenocarcinoma that arises from the minor salivary glands.	mondoexuq1wtf	adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland											EFO:1000379|NCIT:C5948|UMLS:C1334768																		owl:Class
MONDO:0013961	biolink:NamedThing	hypogonadotropic hypogonadism 16 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.	mondoexuq1wtf	HH16|hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 16 with or without anosmia											OMIM:614897|UMLS:C3554021|ICD10:E23.0|DOID:0090080																		owl:Class
MONDO:0010998	biolink:NamedThing	ALG3-CDG	A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).	mondoexuq1wtf	mannosyltransferase 6 deficiency|CDG 1D|CDGS4 (formerly)|CDG1D|ALG3-CDG (CDG-Id)|Cdgs, type IV, formerly|carbohydrate-deficient glycoprotein syndrome, type IV|congenital disorder of glycosylation type 1d|congenital disorder of glycosylation, type Id|CDG Id|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|CDG syndrome type Id|carbohydrate deficient glycoprotein syndrome type Id|congenital disorder of glycosylation type Id|Cdgs, type IV|CDGId|CDG-Id											OMIM:601110|NCIT:C126870|GARD:0009827|UMLS:C1832736|MESH:C535742|SCTID:720976009|Orphanet:79321|DOID:0080556|ICD10:E77.8																		owl:Class
MONDO:0017417	biolink:NamedThing	renal-hepatic-pancreatic dysplasia	Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.	mondoexuq1wtf	Ivemark II syndrome|Ivemark's syndrome|Renohepaticopancreatic dysplasia											Orphanet:294415|DOID:0060259|UMLS:C2673883|OMIMPS:208540|SCTID:763891005																		owl:Class
MONDO:0016719	biolink:NamedThing	microcephaly-seizures-intellectual disability-heart disease syndrome	Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.	mondoexuq1wtf	microcephaly seizures intellectual disability heart disorders|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures mental retardation heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities											ICD10:Q87.8|GARD:0003632|Orphanet:2519|MESH:C537544|UMLS:C2931529																		owl:Class
MONDO:0012449	biolink:NamedThing	spinocerebellar ataxia type 23	Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.	mondoexuq1wtf	spinocerebellar ataxia 23|spinocerebellar ataxia type 23|SCA23											MESH:C537201|ICD10:G11.2|UMLS:C1853250|GARD:0009950|DOID:0050973|OMIM:610245|UMLS:C4305146|Orphanet:101108|SCTID:718772002																		owl:Class
MONDO:0015191	biolink:NamedThing	myopathic intestinal pseudoobstruction		mondoexuq1wtf												Orphanet:104077|ICD10:K59.8																		owl:Class
MONDO:0014343	biolink:NamedThing	Desbuquois dysplasia 2	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.	mondoexuq1wtf	DBQD2|Baratela-Scott syndrome|XYLT1 Desbuquois dysplasia|Desbuquois dysplasia caused by mutation in XYLT1|Desbuquois dysplasia type 2|Desbuquois dysplasia 2											OMIM:615777|OMIM:300881|UMLS:C3550876|UMLS:C4014294																		owl:Class
MONDO:0014777	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.	mondoexuq1wtf	hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|IHPRF2|hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies 2											OMIM:616801|UMLS:C4225203																		owl:Class
MONDO:0016416	biolink:NamedThing	diphallia		mondoexuq1wtf	Diphallus											ICD10:Q55.6|ICD9:752.69|GARD:0001872|Orphanet:227|SCTID:253851000														https://rarediseases.info.nih.gov/diseases/1872/diphallia				owl:Class
MONDO:0006877	biolink:NamedThing	oophoritis	Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.	mondoexuq1wtf	inflammation of ovary|ovary inflammation											MESH:D009869|SCTID:76047005|MedDRA:10030345|UMLS:C0029051|EFO:1001071|DOID:10974|ICD10:N70.92																		owl:Class
MONDO:0018298	biolink:NamedThing	multicentric osteolysis-nodulosis-arthropathy spectrum	Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	mondoexuq1wtf	mona spectrum											UMLS:CN227313|ICD10:Q85.9|Orphanet:371428|SCTID:716868003																		owl:Class
MONDO:0009763	biolink:NamedThing	obesity-hypoventilation syndrome	Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.	mondoexuq1wtf	Pickwickian syndrome|obesity-hypoventilation syndrome											ICD9:786.09|UMLS:C0031880|SCTID:190966007|OMIM:257500|MESH:D010845																		owl:Class
MONDO:0003539	biolink:NamedThing	T-cell adult acute lymphocytic leukemia	An acute T-lymphoblastic leukemia occurring in adults.	mondoexuq1wtf	adult precursor T-lymphoblastic leukemia|T-cell adult ALL|adult T-cell acute lymphoblastic leukemia|T cell adult ALL|adult acute lymphoblastic leukemia of T cell|adult precursor T lymphoblastic leukemia|acute Adult T-cell Leukemia-lymphoma|T cell adult acute lymphoblastic leukemia|adult T acute lymphoblastic leukemia|T cell adult acute lymphocytic leukemia|T Acute Lymphoblastic Leukemia											NCIT:C9142|DOID:5602|UMLS:C0279592|EFO:1001936																		owl:Class
MONDO:0003541	biolink:NamedThing	adult acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during adulthood.	mondoexuq1wtf	adult acute lymphoblastic leukemia|adult acute lymphoid leukemia|adult acute lymphogenous leukemia|adult ALL|acute lymphoblastic leukemia (ALL)|adult precursor lymphoblastic leukemia|adult acute lymphocytic leukemia											NCIT:C4967|UMLS:C0751606|DOID:5604																		owl:Class
MONDO:0019745	biolink:NamedThing	cystinuria type A		mondoexuq1wtf												ICD10:E72.0|Orphanet:93612|MESH:C565652																		owl:Class
MONDO:0008569	biolink:NamedThing	thyroid hormone resistance, generalized, autosomal dominant		mondoexuq1wtf	thyroid hormone resistance, generalized, autosomal dominant|thyroid hormone unresponsiveness|hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|Gthr|GRTH											OMIM:188570|MESH:C567934|UMLS:C2937288																		owl:Class
MONDO:0013289	biolink:NamedThing	agammaglobulinemia 4, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.	mondoexuq1wtf	agammaglobulinemia 4, autosomal recessive|agammaglobulinemia, autosomal recessive, due to Blnk defect|AGM4|autosomal agammaglobulinemia caused by mutation in BLNK|BLNK autosomal agammaglobulinemia											UMLS:C3150752|OMIM:613502																		owl:Class
MONDO:0005619	biolink:NamedThing	typhoid fever	A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.	mondoexuq1wtf	typhoid|typhoid fever|typhoidal salmonellosis										MONDO:0020486	ICD10:A01.00|ICD9:002.0|MESH:D014435|GARD:0009564|ICD10:A01.0|DOID:13258|UMLS:C0041466|NCIT:C35089|EFO:0006789|COHD:192819|SCTID:4834000|Orphanet:99745																		owl:Class
MONDO:0024884	biolink:NamedThing	metastatic carcinoma in the bone	A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.	mondoexuq1wtf	metastatic carcinoma to the bone|metastatic carcinoma in the bone											NCIT:C36082|UMLS:C0700110																		owl:Class
MONDO:0044333	biolink:NamedThing	alcohol-induced Wernicke-Korsakoff's syndrome	A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.	mondoexuq1wtf	alcohol-induced Wernicke-Korsakoff's syndrome|alcoholic Korsakoff's psychosis|alcohol-induced amnestic syndrome					Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this.						NCIT:C34366																		owl:Class
MONDO:0009618	biolink:NamedThing	microcephaly-cardiomyopathy syndrome	A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	mondoexuq1wtf	Winship-Viljoen-Leary syndrome|severe microcephaly and self-limiting dilated cardiomyopathy|severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy|microcephaly with cardiomyopathy											SCTID:719380003|OMIM:251220|UMLS:C1855080|ICD10:Q87.8|MESH:C536711|GARD:0003609|Orphanet:2515																		owl:Class
MONDO:0006321	biolink:NamedThing	non-functioning adrenal cortex adenoma	An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.	mondoexuq1wtf	non-functioning adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|adrenal cortical incidentaloma|non-functioning adrenal cortical adenoma|non-functioning endocrine neoplasm of adrenal cortex|nonfunctional adrenal cortex adenoma											NCIT:C48458|UMLS:C1709240|EFO:1000399																		owl:Class
MONDO:0100210	biolink:NamedThing	growth hormone insensitivity syndrome with immune dysregulation		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:245590																		owl:Class
MONDO:0100084	biolink:NamedThing	alpha-actinopathy	A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.	mondoexuq1wtf	actinopathy|ACTA1 disease|actin myopathy|alpha actinopathy					The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.																								owl:Class
MONDO:0011867	biolink:NamedThing	microphthalmia with cyst, bilateral facial clefts, and limb anomalies		mondoexuq1wtf	microphthalmia with cyst, bilateral facial clefts, and limb anomalies											MESH:C564370|OMIM:607597|UMLS:C1843492																		owl:Class
MONDO:0005091	biolink:NamedThing	severe acute respiratory syndrome	A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.	mondoexuq1wtf	SARS coronavirus caused disease or disorder|acute respiratory coronavirus infection|SARS coronavirus disease or disorder|SARS-CoV infection|SARS|SARS coronavirus infectious disease										MONDO:0015370	NCIT:C85064|Orphanet:140896|GARD:0009237|ICD10:U04.9|DOID:2945|MedDRA:10061982|SCTID:398447004|MESH:D045169|UMLS:C1175175|ICD9:079.82|ICD10:J12.81|EFO:0000694																		owl:Class
MONDO:0003169	biolink:NamedThing	diencephalic astrocytomas	A astrocytoma that involves the diencephalon.	mondoexuq1wtf	astrocytoma of the diencephalon|astrocytoma (excluding glioblastoma) of diencephalon|diencephalic astrocytoma|astrocytoma of diencephalon|diencephalon astrocytoma (excluding glioblastoma)|diencephalon astrocytoma											NCIT:C5128|DOID:4855|UMLS:C1333284																		owl:Class
MONDO:0011888	biolink:NamedThing	immunodeficiency 67	An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.	mondoexuq1wtf	invasive pneumococcal disease, recurrent isolated, 1|IPD1|invasive pneumococcal disease, recurrent isolated, type 1|Interleukin receptor-associated kinase deficiency|IRAK4 deficiency|immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency|invasive pneumococcal disease, protection against|IRAK4D|IRAK-4 deficiency											OMIM:610799|UMLS:C1843256|Orphanet:70592|MESH:C563662|OMIM:607676|ICD10:D84.8|MESH:C564352|UMLS:C1835828|GARD:0010311																		owl:Class
MONDO:0011717	biolink:NamedThing	hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, familial, 6|hyperinsulinism/hyperammonemia syndrome|hyperinsulinemic hypoglycemia familial 6|hyperinsulinism hyperammonemia syndrome|hi/HA syndrome|GDH hyperinsulinism|hyperinsulinemic hypoglycemia, familial, type 6|GLUD1 hyperinsulinism|HA/hi syndrome|HHF6|hyperinsulinism-hyperammonemia syndrome|glutamate dehydrogenase 1 hyperinsulinism											Orphanet:35878|MESH:C538375|ICD10:E72.8|OMIM:606762|DOID:0070217|NCIT:C131832|UMLS:C1847555|GARD:0009931														https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome				owl:Class
MONDO:0010200	biolink:NamedThing	Wilson disease	Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.	mondoexuq1wtf	Westphal-Strumpell syndrome|WD|cerebral pseudosclerosis|hepatolenticular degeneration|Wilson disease|Westphal pseudosclerosis|Wilson's disease|hepatolenticular Degeneration|Wnd											NCIT:C84756|MedDRA:10019819|UMLS:C0019202|ICD10:E83.0|OMIM:277900|ICD10:E83.01|DOID:893|GARD:0007893|Orphanet:905|MESH:D006527|SCTID:88518009														https://rarediseases.info.nih.gov/diseases/7893/wilson-disease				owl:Class
MONDO:0017610	biolink:NamedThing	epidermolysis bullosa simplex	Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.	mondoexuq1wtf	EEB|epidermolysis bullosa intraepidermic|epidermolysis bullosa simplex|EBS											NCIT:C84692|Orphanet:304|ICD10:Q81.0|MESH:D016110|GARD:0010752|ICD9:757.39|UMLS:C0079298|DOID:4644|SCTID:67144006														https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex				owl:Class
MONDO:0011062	biolink:NamedThing	aprosencephaly cerebellar dysgenesis		mondoexuq1wtf	aprosencephaly and cerebellar dysgenesis											MESH:C563331|OMIM:601374|Orphanet:1126|UMLS:C1832412|ICD10:Q04.3																		owl:Class
MONDO:0018251	biolink:NamedThing	glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.	mondoexuq1wtf	GSD IX|glycogenosis due to phosphorylase kinase deficiency|GSD type 9|glycogen storage disease type IX|phosphorylase kinase deficiency|glycogenosis type IX|GSDIX|glycogen storage disease IX|gycogenosis due to PhK deficiency|GSD due to phosphorylase kinase deficiency|glycogen storage disease due to PhK deficiency|GSD type IX|glycogen storage disease type 9|glycogenosis type 9											SCTID:235908005|NCIT:C122662|MESH:C580130|SCTID:40191005|Orphanet:370|DOID:0050594|ICD10:E74.0|UMLS:C0268147																		owl:Class
MONDO:0020133	biolink:NamedThing	posterior fossa malformation		mondoexuq1wtf												Orphanet:98519																		owl:Class
MONDO:0003841	biolink:NamedThing	heart lipoma	A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.	mondoexuq1wtf	Cardiac lipoma|heart lipoma|lipoma of heart|lipoma of the heart											DOID:6285|UMLS:C1332849|NCIT:C6741																		owl:Class
MONDO:0045055	biolink:NamedThing	glycogen-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.	mondoexuq1wtf	Glycogen-rich carcinoma											NCIT:C4153																		owl:Class
MONDO:0002090	biolink:NamedThing	eccrine sweat gland neoplasm	A neoplasm involving a eccrine sweat gland.	mondoexuq1wtf	tumor of eccrine sweat gland|eccrine neoplasm of the skin|eccrine skin neoplasm|eccrine neoplasm|neoplasm of eccrine sweat gland|eccrine sweat gland tumor|eccrine tumor|eccrine skin tumor|eccrine neoplasm of skin|eccrine tumor of skin|eccrine tumor of the skin|eccrine sweat gland neoplasm (disease)											UMLS:C1333371|DOID:173|NCIT:C6796																		owl:Class
MONDO:0020425	biolink:NamedThing	abnormal number of coronary ostia		mondoexuq1wtf												Orphanet:99089|ICD10:Q24.5																		owl:Class
MONDO:0018008	biolink:NamedThing	idiopathic giant cell myocarditis		mondoexuq1wtf	IGCM											ICD10:I40.8|Orphanet:329874																		owl:Class
MONDO:0005110	biolink:NamedThing	idiopathic cardiomyopathy	A disease of the heart muscle or myocardium proper whose cause is unknown.	mondoexuq1wtf												NCIT:C53654|EFO:0000767																		owl:Class
MONDO:0000972	biolink:NamedThing	gallbladder lipoma	A benign adipose tissue neoplasm involving the gallbladder wall.	mondoexuq1wtf	gall bladder lipoma|gallbladder lipoma|lipoma of gallbladder|lipoma of the gallbladder|lipoma of gall bladder											UMLS:C1333747|DOID:10201|NCIT:C5835																		owl:Class
MONDO:0012562	biolink:NamedThing	holoprosencephaly 7	Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.	mondoexuq1wtf	holoprosencephaly 7|HPE7|holoprosencephaly type 7|PTCH1 holoprosencephaly|holoprosencephaly caused by mutation in PTCH1											MESH:C563660|OMIM:610828|DOID:0110876|UMLS:C1835820																		owl:Class
MONDO:0001487	biolink:NamedThing	intrahepatic bile duct cancer	A cancer that involves the intrahepatic bile duct.	mondoexuq1wtf	cancer of intrahepatic bile duct|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic bile duct|malignant intrahepatic bile duct neoplasm|malignant neoplasm of intrahepatic biliary passages|Ca intrahepatic bile ducts											UMLS:C0546835|DOID:12298|ICD9:155.1|SCTID:187777008																		owl:Class
MONDO:0044315	biolink:NamedThing	craniosynostosis 7	Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).	mondoexuq1wtf	Crs7, digenic|CRS7|craniosynostosis 7, digenic|craniosynostosis 7											OMIM:617439|UMLS:C4479496																		owl:Class
MONDO:0009786	biolink:NamedThing	optic atrophy 6		mondoexuq1wtf	optic atrophy 6|OPA6|optic atrophy, congenital or early infantile, autosomal recessive											MESH:C537127|DOID:0111435|Orphanet:99012|OMIM:258500|GARD:0010200																		owl:Class
MONDO:0025513	biolink:NamedThing	autoimmune urticaria	An autoimmune form of urticaria (disease).	mondoexuq1wtf	autoimmune urticaria (disease)|autoimmune urticaria											ICD9:708.8|UMLS:C1304191|SCTID:402397006																		owl:Class
MONDO:0004588	biolink:NamedThing	night blindness	Inability to see clearly in dim light.	mondoexuq1wtf	nyctalopia											ICD9:368.6|ICD10:H53.6|ICD9:368.69|MESH:D009755|UMLS:C0028077|DOID:8499|SCTID:65194006|ICD10:H53.60|NCIT:C34850|COHD:374037|ICD9:368.60																		owl:Class
MONDO:0005404	biolink:NamedThing	myalgic encephalomeyelitis/chronic fatigue syndrome	A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.	mondoexuq1wtf	systemic exertion intolerance disease|CFS|myalgic encephalitis|myalgic encephalomyelitis|chronic fatigue syndrome|Postviral fatigue syndrome											ICD9:780.71|SCTID:51771007|ICD10:R53.82|UMLS:C0015674|MESH:D015673|ICD9:780.79|ICD10:G93.3|EFO:0004540|NCIT:C3037|DOID:8544																		owl:Class
MONDO:0013584	biolink:NamedThing	hereditary sensory neuropathy-deafness-dementia syndrome	A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.	mondoexuq1wtf	neuropathy, hereditary sensory, type 1E|neuropathy, hereditary sensory, with hearing loss and dementia|DNMT1-related dementia, deafness, and sensory neuropathy|hereditary sensory neuropathy type IE|HSAN1E|hereditary sensory and autonomic neuropathy type 1E|HSNIE|hereditary sensory neuropathy with hearing loss and dementia|HSN1E|HSN 1E|hereditary sensory neuropathy type 1E|neuropathy, hereditary sensory, type IE|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome											DOID:0070158|Orphanet:456318|ICD10:G60.8|UMLS:C3279885|MESH:C580162|OMIM:614116|GARD:11927|GARD:0011927																		owl:Class
MONDO:0032662	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 67		mondoexuq1wtf	Mental Retardation, Autosomal Recessive 67|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67|MRT67											OMIM:618295																		owl:Class
MONDO:0009887	biolink:NamedThing	desquamative interstitial pneumonia	A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.	mondoexuq1wtf	respiratory bronchiolitis-associated interstitial lung disease|respiratory bronchiolitis interstitial lung disease|RBILD|desquamative interstitial pneumonia|pneumonia, desquamative interstitial, familial|DIP|ILD, desquamative|interstitial lung disease, desquamative|pneumonitis, desquamative interstitial, familial|interstitial pneumonitis, desquamative, familial|familial desquamative interstitial pneumonitis											ICD9:516.37|SCTID:8549006|DOID:0050158|ICD10:J84.1|NCIT:C35288|ICD10:J84.115|Orphanet:98852|MESH:C562470|ICD10:J84.117|UMLS:C0238378|ICD9:516.34|COHD:4045227|OMIM:263000																		owl:Class
MONDO:0015028	biolink:NamedThing	48,XXYY syndrome	The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.	mondoexuq1wtf	48,XXYY Klinefelter syndrome|48,XXYY variant of Klinefelter's syndrome|XXYY syndrome|48, XXYY syndrome											Orphanet:10|ICD10:Q98.8|UMLS:C2936741|NCIT:C89801|ICD9:758.81|SCTID:403760006|MedDRA:10048230|GARD:0005677														https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome				owl:Class
MONDO:0008663	biolink:NamedThing	snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.	mondoexuq1wtf	vitreoretinal degeneration, snowflake type|snowflake vitreoretinal degeneration|snowflake degeneration in hereditary vitreoretinal degeneration|SVD											Orphanet:91496|ICD10:H35.5|UMLS:C1860405|OMIM:193230|GARD:0009706|MESH:C536677|DOID:0111570														https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration				owl:Class
MONDO:0003177	biolink:NamedThing	prostate adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the prostate gland.	mondoexuq1wtf	prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of the prostate|adenoid cystic carcinoma of prostate|prostate adenoid cystic carcinoma											DOID:4868|NCIT:C5539|UMLS:C1335502																		owl:Class
MONDO:0005082	biolink:NamedThing	prostate adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the prostate gland	mondoexuq1wtf	prostate adenocarcinoma|prostate gland adenocarcinoma|adenocarcinoma of prostate|adenocarcinoma of the prostate|prad											UMLS:C0007112|SCTID:399490008|ONCOTREE:PRAD|NCIT:C2919|DOID:2526|EFO:0000673																		owl:Class
MONDO:0007315	biolink:NamedThing	cherubism	Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.	mondoexuq1wtf	familial multilocular cystic disease of the jaws|CRBM|familial fibrous dysplasia of the jaws|Crbm|cherubism											MedDRA:10070535|SCTID:76098004|DOID:1856|Orphanet:184|ICD10:M27.8|ICD9:526.89|ICD10:K10.8|MESH:D002636|OMIM:118400|GARD:0006036|NCIT:C84630|UMLS:C0008029														https://rarediseases.info.nih.gov/diseases/6036/cherubism				owl:Class
MONDO:0020410	biolink:NamedThing	aorto-right ventricular tunnel		mondoexuq1wtf												Orphanet:99070|ICD10:Q20.8																		owl:Class
MONDO:0018082	biolink:NamedThing	aorto-ventricular tunnel	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.	mondoexuq1wtf	aorto-ventricular tunnel|aorto-ventricular tunnel (disease)		aorto-ventricular tunnel (disease)									HP:0011627|Orphanet:3400|UMLS:CN225932|ICD10:Q20.8																		owl:Class
MONDO:0033862	biolink:NamedThing	primary autoimmune enteropathy		mondoexuq1wtf												Orphanet:522037																		owl:Class
MONDO:0008023	biolink:NamedThing	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.	mondoexuq1wtf	Furukawa-Takagi-Nakao syndrome|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus|muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus											SCTID:237611007|ICD9:728.2|OMIM:158500|Orphanet:2579|GARD:0002417														https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus				owl:Class
MONDO:0012467	biolink:NamedThing	cold-induced sweating syndrome 2	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.	mondoexuq1wtf	Crisponi/cold-induced sweating syndrome 2|CLCF1 cold-induced sweating syndrome|CRISPONI/cold-induced sweating syndrome 2|cold-induced sweating syndrome type 2|cold-induced sweating syndrome caused by mutation in CLCF1|CISS2|cold-induced sweating syndrome 2											UMLS:C1853198|DOID:0080330|MESH:C564791|OMIM:610313																		owl:Class
MONDO:0015526	biolink:NamedThing	cold-induced sweating syndrome	Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.	mondoexuq1wtf	CISS|Sohar-Crisponi syndrome											ICD10:G90.8|Orphanet:157820|DOID:0060294|OMIMPS:272430|SCTID:702363009|UMLS:CN043579																		owl:Class
MONDO:0023561	biolink:NamedThing	Koone-Rizzo-Elias syndrome		mondoexuq1wtf	Koone Rizzo Elias syndrome|ichthyosis, intellectual disability and asymptomatic spasticity|ichthyosis, mental retardation and asymptomatic spasticity											MESH:C537023|GARD:0003131|UMLS:C2931397														https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome				owl:Class
MONDO:0017535	biolink:NamedThing	central polydactyly of fingers, unilateral		mondoexuq1wtf	mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral											Orphanet:295171|ICD10:Q69.0																		owl:Class
MONDO:0017456	biolink:NamedThing	central polydactyly of fingers		mondoexuq1wtf	mirror hand|mesoaxial polydactyly|central polydactyly of hand|mesoaxial polydactyly of fingers|central polydactyly											Orphanet:295004|GARD:0012769|SCTID:205130008|ICD10:Q69.0																		owl:Class
MONDO:0008590	biolink:NamedThing	tremor, hereditary essential, 1	Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.	mondoexuq1wtf	ETM1|DRD3 essential tremor|FET1|tremor, hereditary essential, 1|tremor, hereditary essential, type 1|essential tremor caused by mutation in DRD3|tremor familial essential, 1|tremor, familial essential, 1|tremor hereditary essential, 1											DOID:0111428|UMLS:C1860861|GARD:0005244|MESH:C536545|OMIM:190300																		owl:Class
MONDO:0012013	biolink:NamedThing	glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome	Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.	mondoexuq1wtf	spherophakia-brachymorphia syndrome|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|GEMSS syndrome|glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|Weill-Marchesani syndrome, autosomal dominant|WMS2|mesodermal Dysmorphodystrophy, congenital|GEMSS|Weill-Marchesani syndrome 2|Weill-Marchesani syndrome type 2											ICD10:Q87.1|SCTID:722450007|Orphanet:2084|OMIM:608328|GARD:0002452																		owl:Class
MONDO:0009716	biolink:NamedThing	Richieri Costa-da Silva syndrome		mondoexuq1wtf	myotonia-intellectual disability-skeletal anomalies syndrome|Richieri Costa Da Silva syndrome|myotonia with skeletal abnormalities and intellectual disability|myotonia with skeletal abnormalities and mental retardation											GARD:0004709|ICD10:Q87.8|MESH:C535675|UMLS:C2930978|Orphanet:3101|OMIM:255710														https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome				owl:Class
MONDO:0011558	biolink:NamedThing	Usher syndrome type 2C	A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	Usher syndrome, type IIc, Gpr98/Pdzd7, digenic|USHER syndrome, type IIC|Usher syndrome, type IIb, formerly|Usher syndrome type IIC|Usher syndrome, type IIb|USH2C|Usher syndrome, type 2C											MESH:C536492|DOID:0110839|OMIM:605472|ICD10:H35.5|NCIT:C153174|GARD:0008497														https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c				owl:Class
MONDO:0016484	biolink:NamedThing	Usher syndrome type 2	A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.	mondoexuq1wtf	USH2											Orphanet:231178|UMLS:C0339534|SCTID:232058008|ICD10:H35.5|NCIT:C126328|DOID:0110827																		owl:Class
MONDO:0007451	biolink:NamedThing	diabetes insipidus, nephrogenic, autosomal		mondoexuq1wtf	diabetes insipidus, nephrogenic, type 2|diabetes insipidus, nephrogenic, autosomal											UMLS:C1563706|OMIM:125800																		owl:Class
MONDO:0016383	biolink:NamedThing	nephrogenic diabetes insipidus	Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.	mondoexuq1wtf	diabetes insipidus nephrogenic X-linked|vasopressin-resistant diabetes insipidus|ADH resistant diabetes insipidus|diabetes insipidus nephrogenic type 1|diabetes insipidus nephrogenic											ICD9:588.1|DOID:12387|GARD:0007178|MedDRA:10029147|NCIT:C84919|COHD:438476|SCTID:111395007|Orphanet:223|UMLS:C0162283|ICD10:N25.1|MESH:D018500																		owl:Class
CL:0001201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015814	biolink:NamedThing	primary cutaneous follicle center lymphoma	A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.	mondoexuq1wtf	Crosti's disease|Reticulohistiocytoma of the dorsum|cutaneous follicle center lymphoma|PCFCL|cutaneous follicle centre lymphoma											NCIT:C7217|SCTID:404143002|ICD10:C82.6|Orphanet:178540|ONCOTREE:PCFCL|ICDO:9597/3|UMLS:C1333171																		owl:Class
MONDO:0015819	biolink:NamedThing	indolent primary cutaneous B-cell lymphoma		mondoexuq1wtf												Orphanet:178557																		owl:Class
MONDO:0044305	biolink:NamedThing	ectodermal dysplasia 13, hair/tooth type		mondoexuq1wtf	ECTD13|ectodermal dysplasia 13, hair/tooth type											OMIM:617392|DOID:0111650|UMLS:C4479322																		owl:Class
MONDO:0003285	biolink:NamedThing	fallopian tube leiomyoma	A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	fallopian tube leiomyoma|leiomyoma of fallopian tube											DOID:5124|UMLS:C1517115|NCIT:C40127																		owl:Class
MONDO:0002038	biolink:NamedThing	head and neck carcinoma	A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	mondoexuq1wtf	carcinoma of the neck|head and neck cancer|carcinoma of the head and neck|carcinoma of head and neck|neck carcinoma|carcinoma of neck|carcinoma of craniocervical region|craniocervical region carcinoma|head and neck carcinoma											UMLS:C3887461|DOID:1542|NCIT:C35850|UMLS:C1334927																		owl:Class
MONDO:0010938	biolink:NamedThing	T-B+ severe combined immunodeficiency due to JAK3 deficiency	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	mondoexuq1wtf	SCID, T cell-negative, B cell-positive, NK cell-negative|T-B+ SCID due to JAK3 deficiency|severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE											SCTID:718107000|MESH:C563440|OMIM:600802|Orphanet:35078|ICD10:D81.2|UMLS:C1833275|UMLS:C4273742																		owl:Class
MONDO:0004275	biolink:NamedThing	osteosarcoma arising in bone Paget disease	A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.	mondoexuq1wtf	osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in bone Paget disease|osteosarcoma arising in Paget disease of bone|Paget osteosarcoma|osteosarcoma arising in osseous Paget's disease|osteosarcoma arising in osteitis deformans|Paget's osteosarcoma|osteosarcoma arising in bone Paget's disease											DOID:7542|NCIT:C6469|ICDO:9184/3|UMLS:C1335148																		owl:Class
MONDO:0000677	biolink:NamedThing	semantic agnosia	An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.	mondoexuq1wtf												DOID:0060147																		owl:Class
MONDO:0017405	biolink:NamedThing	1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	mondoexuq1wtf	Del(1)p(21.3)|monosomy 1p21.3											Orphanet:293948|UMLS:CN203152|UMLS:C4304578|ICD10:Q93.5|SCTID:719600006																		owl:Class
MONDO:0012149	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 1		mondoexuq1wtf	attention Deficit-hyperactivity disorder, susceptibility to, type 1|attention deficit-hyperactivity disorder, susceptibility to, 1|Adhd1											OMIM:608903																		owl:Class
MONDO:0013023	biolink:NamedThing	orofacial cleft 12		mondoexuq1wtf	orofacial cleft 12|OFC12|cleft lip with or without cleft palate, nonsyndromic, 12											OMIM:612858|UMLS:C2748505|DOID:0080405|MESH:C567548																		owl:Class
MONDO:0009341	biolink:NamedThing	Mowat-Wilson syndrome	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.	mondoexuq1wtf	microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|Mowat-Wilson syndrome|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease mental retardation syndrome|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease-intellectual disability syndrome|Hirschsprung disease-mental retardation syndrome|Hirschsprung disease intellectual disability syndrome|MOWS											UMLS:C1856113|ICD9:759.89|NCIT:C74999|DOID:0060485|Orphanet:2152|GARD:0009673|OMIM:235730|MESH:C536990|SCTID:703535000|ICD10:Q43.1														https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome				owl:Class
MONDO:0013556	biolink:NamedThing	Hermansky-Pudlak syndrome 4	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome caused by mutation in HPS4|Hermansky-Pudlak syndrome type 4|HPS4|Hermansky-Pudlak syndrome 4|HPS4 Hermansky-Pudlak syndrome											DOID:0060542|OMIM:614073|UMLS:C3484357																		owl:Class
MONDO:0016501	biolink:NamedThing	Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.	mondoexuq1wtf	HPS with pulmonary fibrosis											ICD10:E70.3|UMLS:CN201506|Orphanet:231500																		owl:Class
MONDO:0015579	biolink:NamedThing	Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.	mondoexuq1wtf	Alpha-thalassemia major|Alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|Hemoglobin Bart's hydrops fetalis											Orphanet:163596|ICD10:D56.0|ICD9:282.49|SCTID:5300004																		owl:Class
MONDO:0016892	biolink:NamedThing	partial deletion of the short arm of chromosome 10		mondoexuq1wtf	partial deletion of chromosome 10p|partial monosomy of the short arm of chromosome 10|partial monosomy of chromosome 10p|partial deletion of the short arm of chromosome type 10											ICD10:Q93.5|Orphanet:261938|UMLS:C0795836																		owl:Class
MONDO:0016875	biolink:NamedThing	partial deletion of chromosome 10		mondoexuq1wtf	partial monosomy of chromosome 10											ICD10:Q93.5|Orphanet:261811																		owl:Class
MONDO:0004768	biolink:NamedThing	keratoconjunctivitis	Inflammation of both the cornea and the conjunctiva.	mondoexuq1wtf												DOID:9368|UMLS:C0022573|ICD9:370.49|COHD:380397|ICD10:H16.20|ICD10:H16.2|SCTID:88151007|NCIT:C34744|MESH:D007637|ICD9:370.40|ICD9:370.8																		owl:Class
MONDO:0010517	biolink:NamedThing	ciliary dyskinesia, primary, 36, X-linked	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 36, X-linked; CILD36|CILD36|PIH1D3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 36, X-linked|primary ciliary dyskinesia caused by mutation in PIH1D3|ciliary dyskinesia, primary, 36, with or without situs inversus											UMLS:C4478372|OMIM:300991|UMLS:CN240511																		owl:Class
MONDO:0018807	biolink:NamedThing	idiopathic ductopenia		mondoexuq1wtf	idiopathic adult ductopenia|IAD											UMLS:CN244899|Orphanet:480512																		owl:Class
MONDO:0015783	biolink:NamedThing	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		mondoexuq1wtf												UMLS:CN200365|Orphanet:177901|ICD10:Q87.1																		owl:Class
MONDO:0020301	biolink:NamedThing	Prader-Willi syndrome due to paternal 15q11q13 deletion		mondoexuq1wtf												Orphanet:98793|UMLS:CN207115|ICD10:Q87.1																		owl:Class
MONDO:0002844	biolink:NamedThing	lymphocytic gastritis		mondoexuq1wtf	lymphocytic gastritis											SCTID:360375007|UMLS:C1283271|ICD9:535.40|NCIT:C27051|DOID:4035																		owl:Class
MONDO:0008529	biolink:NamedThing	T-cell Subgroups, non-HLA-linked		mondoexuq1wtf	T-cell Subgroups, non-HLA-linked											OMIM:186950																		owl:Class
MONDO:0036483	biolink:NamedThing	short-rib thoracic dysplasia 18 with polydactyly		mondoexuq1wtf	short-rib thoracic dysplasia 18 with polydactyly|SRTD18											UMLS:CN795020|DOID:0080293|OMIM:617866																		owl:Class
MONDO:0009404	biolink:NamedThing	hypertelorism, microtia, facial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	mondoexuq1wtf	hypertelorism-microtia-clefting syndrome|hypertelorism, microtia, facial clefting syndrome|Bixler syndrome|Bixler Christian Gorlin syndrome|HMC syndrome|hypertelorism-microtia-facial clefting syndrome|hypertelorism microtia facial clefting syndrome|Bixler-Christian-Gorlin syndrome											OMIM:239800|Orphanet:2213|SCTID:721836009|GARD:0000897|MESH:C537632|UMLS:C0220742|DOID:14670|ICD10:Q87.0																		owl:Class
MONDO:0013838	biolink:NamedThing	coenzyme Q10 deficiency, primary, 3	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.	mondoexuq1wtf	coenzyme Q10 deficiency, primary, type 3|coenzyme Q10 deficiency, primary, 3|coenzyme Q10 deficiency caused by mutation in PDSS2|COQ10D3|PDSS2 coenzyme Q10 deficiency											OMIM:614652|DOID:0070240|UMLS:C3553358																		owl:Class
MONDO:0008025	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.	mondoexuq1wtf	spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN2A|neuropathy, distal hereditary motor, type 2A|HMN 2A|neuronopathy, distal hereditary motor, type IIA|Charcot-Marie-Tooth disease, spinal, 2A|neuronopathy, distal hereditary motor caused by mutation in HSPB8|HSPB8 neuronopathy, distal hereditary motor											OMIM:158590|UMLS:C1834692|MESH:C563561|DOID:0111208																		owl:Class
MONDO:0004603	biolink:NamedThing	collagenopathy		mondoexuq1wtf																														owl:Class
MONDO:0014791	biolink:NamedThing	Luscan-Lumish syndrome		mondoexuq1wtf	Luscan-Lumish syndrome; LLs|LLs|Luscan-Lumish syndrome											OMIM:616831|UMLS:C4085873																		owl:Class
MONDO:0041775	biolink:NamedThing	intraoperative floppy iris syndrome		mondoexuq1wtf	intraoperative floppy iris syndrome											UMLS:C1688637|SCTID:418801006																		owl:Class
MONDO:0005808	biolink:NamedThing	inclusion conjunctivitis	Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.	mondoexuq1wtf	Chlamydial conjunctivitis|neonatal Chlamydia conjunctivitis|inclusion blennorrhoea|adult inclusion conjunctivitis|Paratrachoma|inclusion blenorrhea|Trachoma											NCIT:C116817|ICD10:A74.0|GARD:0006777|ICD9:077.98|ICD9:077.0|UMLS:C0009770|DOID:13800|MESH:D003235|EFO:0007324|SCTID:231861005|COHD:372550														https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis				owl:Class
MONDO:0006668	biolink:NamedThing	bacterial conjunctivitis	Inflammation of the conjunctiva caused by a variety of bacterial agents.	mondoexuq1wtf	purulent conjunctivitis|Bacteria conjunctival disease|Bacteria caused conjunctival disease											DOID:9700|ICD9:372.03|NCIT:C53656|EFO:1000829|MESH:D003234|MedDRA:10061784|UMLS:C0009768|SCTID:243321006|ICD10:H10.0																		owl:Class
MONDO:0010784	biolink:NamedThing	chloramphenicol toxicity		mondoexuq1wtf	chloramphenicol resistance|chloramphenicol toxicity|anemia, chloramphenicol-induced											OMIM:515000																		owl:Class
MONDO:0003796	biolink:NamedThing	rectum Kaposi sarcoma	A Kaposi sarcoma arising from the rectum.	mondoexuq1wtf	rectal Kaposi sarcoma|Kaposi's sarcoma (disease) of rectum|Kaposi's sarcoma of the rectum|rectum Kaposi's sarcoma (disease)|rectum Kaposi's sarcoma|Kaposi's sarcoma of rectum|rectum Kaposi sarcoma|rectal Kaposi's sarcoma											DOID:6190|UMLS:C1335681|NCIT:C5550																		owl:Class
MONDO:0011806	biolink:NamedThing	osteofibrous dysplasia	A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.	mondoexuq1wtf	cortical fibrous dysplasia|OFD|osteofibrous dysplasia of bone|osteofibrous dysplasia, susceptibility to|osteofibrous dysplasia|ossifying fibroma of long bones|Kempson-Campanacci lesion|OSFD|tibia, bowing of, with pseudarthrosis and pectus excavatum											MESH:C563276|OMIM:609143|OMIM:607278|MESH:C563787|NCIT:C53970|Orphanet:488265|UMLS:C1709353|UMLS:C1836723																		owl:Class
MONDO:0013987	biolink:NamedThing	combined oxidative phosphorylation defect type 15	Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.	mondoexuq1wtf	COXPD15|combined oxidative phosphorylation deficiency type 15|MTFMT combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 15|combined oxidative phosphorylation deficiency caused by mutation in MTFMT											ICD10:G31.8|SCTID:763203009|OMIM:614947|UMLS:C3554182|Orphanet:319524|DOID:0111491																		owl:Class
MONDO:0017046	biolink:NamedThing	neuroepithelioma	Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.	mondoexuq1wtf						Editor note: see also MONDO:0005462 and MONDO:0021193						ICD10:C71.9|Orphanet:2677|GARD:0003963														https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma				owl:Class
MONDO:0004104	biolink:NamedThing	splenic manifestation of hairy cell leukemia	A hairy cell leukemia that involves the spleen.	mondoexuq1wtf	hairy cell leukemia of spleen|splenic manifestation of hairy cell leukemia|spleen hairy cell leukemia											UMLS:C1336064|DOID:709|ICD9:202.47|NCIT:C7301|SCTID:93151007																		owl:Class
MONDO:0002452	biolink:NamedThing	prostate leiomyoma	A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of the prostate|prostatic leiomyoma|prostate leiomyoma|leiomyoma of prostate|leiomyoma of prostate gland|prostate gland leiomyoma											NCIT:C5544|DOID:2887|UMLS:C1335510																		owl:Class
MONDO:0002762	biolink:NamedThing	esophagus verrucous carcinoma	A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)	mondoexuq1wtf	verrucous carcinoma of the esophagus|esophageal verrucous carcinoma|esophageal verrucous cancer|esophagus verrucous carcinoma|verrucous carcinoma of esophagus											UMLS:C1333470|DOID:3747|NCIT:C27420																		owl:Class
MONDO:0008619	biolink:NamedThing	ulna metaphyseal dysplasia syndrome	Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.	mondoexuq1wtf	ulna metaphyseal dysplasia syndrome|metaphyseal chondrodysplasia, Rosenberg type|Rosenberg-Lohr syndrome|metaphyseal chondroplasia Rosenberg type|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|Rosenberg Lohr syndrome											Orphanet:1837|GARD:0004740|OMIM:191420|MESH:C536935|UMLS:C1860615|ICD10:Q78.5|SCTID:715242008														https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome				owl:Class
MONDO:0018767	biolink:NamedThing	severe primary trimethylaminuria	Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.	mondoexuq1wtf	fish-odor syndrome|stale fish syndrome|fish odor syndrome|TMAU|fish malodor syndrome|TMAuria											ICD10:E88.8|GARD:0006447|HP:0003614|DOID:0080361|Orphanet:468726|OMIM:602079|MESH:C536561														https://github.com/monarch-initiative/mondo/issues/3448				owl:Class
MONDO:0011182	biolink:NamedThing	trimethylaminuria	A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.	mondoexuq1wtf	stale fish syndrome|fish malodor syndrome|TMAU|trimethylaminuria (disease)|TMAuria|fish-odor syndrome|trimethylaminuria|fish odor syndrome		trimethylaminuria (disease)									SCTID:237959005|HP:0003614|UMLS:C0342739|GARD:0006447														https://github.com/monarch-initiative/mondo/issues/3448				owl:Class
MONDO:0013034	biolink:NamedThing	keratosis palmoplantaris striata 2	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.	mondoexuq1wtf	DSP striate palmoplantar keratoderma|striate palmoplantar keratoderma 2|striate palmoplantar keratoderma caused by mutation in DSP|keratoderma, palmoplantar, striate form 2|PPKS2|keratosis palmoplantaris striata type 2|keratosis palmoplantaris striata II											OMIM:612908|MESH:C565102|UMLS:C1852127																		owl:Class
MONDO:0018865	biolink:NamedThing	striate palmoplantar keratoderma	Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.	mondoexuq1wtf	keratosis palmoplantaris varians of Wachters|keratosis palmoplantaris striata et areata|keratosis palmoplantaris striata											SCTID:764958008|ICD10:Q82.8|UMLS:CN205191|Orphanet:50942																		owl:Class
MONDO:0009965	biolink:NamedThing	Perlman syndrome	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.	mondoexuq1wtf	nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|renal hamartomas, nephroblastomatosis, and fetal gigantism|PRLMNS|Perlman syndrome|nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor											MESH:C536399|OMIM:267000|Orphanet:2849|GARD:0003936|NCIT:C103144|UMLS:C0796113|DOID:0060476|SCTID:722231005|ICD10:Q87.3														https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome				owl:Class
MONDO:0013795	biolink:NamedThing	fibrochondrogenesis 2	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.	mondoexuq1wtf	COL11A2 fibrochondrogenesis|fibrochondrogenesis 2|FBCG2|fibrochondrogenesis caused by mutation in COL11A2|fibrochondrogenesis type 2											OMIM:614524|UMLS:C3281128																		owl:Class
MONDO:0002880	biolink:NamedThing	ovarian adenosarcoma	A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.	mondoexuq1wtf	ovarian Mullerian adenosarcoma|ovarian Müllerian adenosarcoma|adenosarcoma of ovary|ovary adenosarcoma|ovarian adenosarcoma|ovarian mesodermal adenosarcoma|ovarian mullerian adenosarcoma											NCIT:C7317|DOID:4115|UMLS:C1335169																		owl:Class
MONDO:0008408	biolink:NamedThing	scapuloperoneal spinal muscular atrophy, autosomal dominant		mondoexuq1wtf	amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal spinal muscular atrophy|neurogenic scapuloperoneal amyotrophy, New England type|scapuloperoneal neuronopathy|SPSMA											OMIM:181405|ICD9:335.19|ICD10:G12.1|DOID:0111552|GARD:0010314|SCTID:230248006|EFO:1001992|Orphanet:431255																		owl:Class
MONDO:0012247	biolink:NamedThing	spinocerebellar ataxia type 27	Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.	mondoexuq1wtf	SCA27|spinocerebellar ataxia 27|cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia type 27|cerebellar ataxia autosomal dominant FGF14-related											SCTID:719252002|Orphanet:98764|ICD10:G11.8|DOID:0050976|GARD:0009963|UMLS:C1836383|MESH:C537204|OMIM:609307|UMLS:C4304846																		owl:Class
MONDO:0054666	biolink:NamedThing	ovarian dysgenesis 5		mondoexuq1wtf	ODG5|ovarian dysgenesis 5											DOID:0080497|OMIM:617690|UMLS:C4540141																		owl:Class
MONDO:0003501	biolink:NamedThing	external ear squamous cell carcinoma	A squamous cell carcinoma that arises from the skin of the external ear.	mondoexuq1wtf	external Ear squamous cell carcinoma|external Ear epidermoid carcinoma|squamous cell carcinoma of the external Ear|epidermoid carcinoma of the external Ear|epidermoid carcinoma of external Ear|external ear squamous cell carcinoma|squamous cell carcinoma of external Ear|epidermoid carcinoma of the external ear|squamous cell carcinoma of external ear											DOID:5538|NCIT:C6083|UMLS:C1333494																		owl:Class
MONDO:0009633	biolink:NamedThing	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		mondoexuq1wtf	MSPKA|microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma											OMIM:251750|UMLS:C3538951																		owl:Class
MONDO:0010510	biolink:NamedThing	intellectual disability, X-linked 105	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.	mondoexuq1wtf	intellectual disability, X-linked type 105|MRX105|intellectual disability, X-linked 105|mental retardation, X-linked 105|non-syndromic X-linked intellectual disability caused by mutation in USP27X|mental retardation, X-linked type 105|USP27X non-syndromic X-linked intellectual disability											OMIM:300984|UMLS:C4310816																		owl:Class
MONDO:0009467	biolink:NamedThing	natal teeth-intestinal pseudoobstruction-patent ductus syndrome		mondoexuq1wtf	intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth|Natal teeth, intestinal pseudoobstruction and patent ductus											UMLS:C1855732|GARD:0003928|OMIM:243185|ICD10:Q87.8|MESH:C538341|Orphanet:1654																		owl:Class
MONDO:0011135	biolink:NamedThing	superior transverse scapular ligament, calcification of, familial		mondoexuq1wtf	superior transverse scapular ligament, calcification of, familial											MESH:C566638|OMIM:601708|UMLS:C1866424																		owl:Class
MONDO:0014800	biolink:NamedThing	progressive scapulohumeroperoneal distal myopathy		mondoexuq1wtf	SHPM|myopathy, scapulohumeroperoneal											ICD10:G71.0|OMIM:616852|Orphanet:447977|UMLS:C4225181																		owl:Class
MONDO:0017728	biolink:NamedThing	Tay-Sachs disease, B1 variant		mondoexuq1wtf	GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant											ICD10:E75.0|Orphanet:309239|SCTID:238024005																		owl:Class
MONDO:0001096	biolink:NamedThing	mediastinum ganglioneuroblastoma	A ganglioneuroblastoma arising from the mediastinum.	mondoexuq1wtf	ganglioneuroblastoma of mediastinum|ganglioneuroblastoma (disease) of mediastinum|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma|mediastinum ganglioneuroblastoma (disease)											UMLS:C1334653|NCIT:C6627|DOID:10661																		owl:Class
MONDO:0004927	biolink:NamedThing	dacryocystocele	A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.	mondoexuq1wtf	lacrimal mucocele											COHD:434951|DOID:9939|ICD9:375.43																		owl:Class
MONDO:0001945	biolink:NamedThing	postencephalitic Parkinson disease	A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.	mondoexuq1wtf	postencephalitic parkinsonism|postencephalitic Parkinsonism											DOID:14332|Orphanet:97349|EFO:1001402|UMLS:C0030568|ICD10:G21.3|MESH:D010301|NCIT:C34898|SCTID:19972008																		owl:Class
MONDO:0008240	biolink:NamedThing	6-phosphogluconolactonase deficiency		mondoexuq1wtf	Pgls deficiency|6-phosphogluconolactonase deficiency|6Pgl deficiency											UMLS:C1868355|OMIM:172150|MESH:C566803																		owl:Class
MONDO:0017490	biolink:NamedThing	tibial hemimelia, unilateral		mondoexuq1wtf	tibial longitudinal meromelia, unilateral											ICD10:Q72.5|UMLS:CN203228|Orphanet:295077																		owl:Class
MONDO:0010144	biolink:NamedThing	tibial hemimelia	Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.	mondoexuq1wtf	congenital longitudinal deficiency of the tibia|congenital absence of tibia|congenital aplasia and dysplasia of the tibia with intact fibula|absence of tibia|tibial hemimelia|tibial longitudinal meromelia|Thm|bilateral absence of the tibia|tibia, absence of											ICD10:Q72.5|Orphanet:93322|GARD:0008707|OMIM:275220|SCTID:79177001|MESH:C535563																		owl:Class
MONDO:0010161	biolink:NamedThing	tyrosinemia type I	Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.	mondoexuq1wtf	hepatorenal tyrosinemia|type I tyrosinemia|tyrosinemia, type I|tyrosinemia type 1|fumarylacetoacetate hydrolase deficiency|FAH deficiency|fumarylacetoacetase deficiency|Fah deficiency|tyrosinemia, type 1|tyrosinemia type I|TYRSN1											OMIM:276700|Orphanet:882|ICD10:E70.2|SCTID:410056006|DOID:0050726|MedDRA:10069462|UMLS:C0268490|NCIT:C98641|GARD:0002658														https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1				owl:Class
MONDO:0021076	biolink:NamedThing	pancreatic exocrine neoplasm	A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	mondoexuq1wtf	exocrine pancreas tumor|exocrine pancreas neoplasm|neoplasm of the exocrine pancreas|pancreatic exocrine neoplasm|exocrine pancreas neoplasm (disease)|neoplasm of exocrine pancreas|tumor of the exocrine pancreas|tumor of exocrine pancreas|pancreatic exocrine tumor											ICD9:235.5|UMLS:C0345920|SCTID:254604005|NCIT:C4445																		owl:Class
MONDO:0015032	biolink:NamedThing	intraneural perineurioma	A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.	mondoexuq1wtf	intraneural perineurioma (WHO grade I)|intraneural perineurioma											GARD:0010921|Orphanet:100003|NCIT:C6911|DOID:4696|UMLS:C1370658|SCTID:768934004														https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma				owl:Class
MONDO:0004227	biolink:NamedThing	epididymal adenomatoid tumor	A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.	mondoexuq1wtf	adenomatoid neoplasm of epididymis|adenomatoid tumor of epididymis|adenomatoid tumor of the epididymis|adenomatoid neoplasm of the epididymis|benign epididymal epithelial mesothelioma|epididymal adenomatoid tumor|epididymis adenomatoid tumor											DOID:745|UMLS:C1333415|SCTID:449052009|NCIT:C6382																		owl:Class
MONDO:0021473	biolink:NamedThing	benign neoplasm of epididymis	A benign neoplasm that involves the epididymis.	mondoexuq1wtf	benign tumor of epididymis|benign epididymal tumor|benign neoplasm of the epididymis|benign epididymal neoplasm|epididymis benign neoplasm|benign tumor of the epididymis											SCTID:92088003|ICD9:222.3|NCIT:C3614|UMLS:C0154010																		owl:Class
MONDO:0010002	biolink:NamedThing	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.	mondoexuq1wtf	Rothmund-Thomson syndrome|RTS|poikiloderma congenitale|poikiloderma atrophicans and cataract|congenital poikiloderma|poikiloderma of Rothmund-Thomson					Editor note: check whether properties apply to both 1 and 2, or just type 2						OMIMPS:268400|ICD10:Q82.8|NCIT:C3335|GARD:0004392|Orphanet:2909|ICD9:759.89|UMLS:C0032339|DOID:2732|SCTID:69093006|MESH:D011038																		owl:Class
MONDO:0100137	biolink:NamedThing	telomere syndrome	Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.	mondoexuq1wtf	short telomere syndrome|STS																													owl:Class
MONDO:0016284	biolink:NamedThing	primitive neuroectodermal tumor of the cervix uteri	Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.	mondoexuq1wtf	cervical peripheral neuroectodermal cancer|peripheral neuroectodermal cancer of cervix uteri|cervical malignant peripheral neuroectodermal tumor|malignant peripheral neuroectodermal tumor of the cervix uteri											ICD10:C53.8|UMLS:CN201074|Orphanet:213812|ICD10:C53.0|ICD10:C53.1																		owl:Class
MONDO:0016280	biolink:NamedThing	sarcoma of cervix uteri	A sarcoma involving a uterine cervix.	mondoexuq1wtf	malignant mesenchymal tumor of cervix uteri|uterine cervix sarcoma|cervical sarcoma|cervical malignant mesenchymal tumor|sarcoma of uterine cervix											Orphanet:213797|ICD10:C53.8|UMLS:CN201070|ICD10:C53.0|ICD10:C53.1																		owl:Class
MONDO:0044014	biolink:NamedThing	postpartum thyroiditis	A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum	mondoexuq1wtf	thyroiditides, postpartum|thyroiditis, post-partum|postpartum thyroiditis|thyroiditides, post-partum|postpartum thyroiditides|thyroiditis, postpartum|post-partum thyroiditides|post-partum thyroiditis|post partum thyroiditis											SCTID:52772002|UMLS:C0271815|NCIT:C114389|MESH:D050032																		owl:Class
MONDO:0007263	biolink:NamedThing	cardiac rhythm disease	Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.	mondoexuq1wtf	arrhythmia											ICD9:427.9|EFO:0004269|SCTID:698247007|NCIT:C2881																		owl:Class
MONDO:0017699	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form		mondoexuq1wtf	GBE deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form											MedDRA:10053250|ICD10:E74.0|Orphanet:308684																		owl:Class
MONDO:0033046	biolink:NamedThing	Meier-Gorlin syndrome 8		mondoexuq1wtf	Meier-Gorlin syndrome 8|MGORS8											DOID:0080255|UMLS:C4479655|OMIM:617564																		owl:Class
MONDO:0000922	biolink:NamedThing	pelvic inflammatory disease	Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.	mondoexuq1wtf	pelvic infection|PID|pelvic inflammatory disease, (PID)|disease (PID), pelvic inflammatory|pelvic inflammatory disease|PID, pelvic inflammatory disease|inflammatory disease (PID), pelvic											ICD9:614.9|DOID:1003|ICD9:614-616.99|MESH:D000292|ICD10:N70-N77|ICD9:614.8|NCIT:C3889|ICD10:N73.9|EFO:1001388|UMLS:C0242172|SCTID:198130006																		owl:Class
MONDO:0003926	biolink:NamedThing	neurilemmoma of the pleura	A schwannoma that involves the pleura.	mondoexuq1wtf	pleural schwannoma|pleural neurilemmoma|pleura schwannoma|neurilemmoma of pleura|schwannoma of the pleura|schwannoma of pleura											NCIT:C5418|DOID:6564|UMLS:C1335435																		owl:Class
MONDO:0021374	biolink:NamedThing	neoplasm of cerebral hemisphere	A neoplasm involving a cerebral hemisphere.	mondoexuq1wtf	cerebral hemisphere tumor|tumor of cerebral hemisphere|cerebral tumor|cerebral hemispheric neoplasm|cerebral neoplasm|telencephalon neoplasm (disease)|neoplasm of telencephalon|neoplasm of the cerebral hemispheres|tumor of the cerebral hemispheres|neoplasm of cerebral hemispheres|tumor of cerebral hemispheres|cerebral neoplasms|tumor of the cerebrum|tumor of cerebrum|cerebral hemispheric tumor|neoplasm of the cerebrum|tumor of telencephalon|neoplasm of cerebrum|telencephalon tumor|neoplasm of cerebral hemisphere|cerebral hemisphere neoplasm											NCIT:C4874|SCTID:126953009																		owl:Class
MONDO:0018138	biolink:NamedThing	ocular albinism with congenital sensorineural deafness		mondoexuq1wtf	Waardenburg syndrome type 2 with ocular albinism|digenic Waardenburg syndrome/ocular albinism|ocular albinism with sensorineural deafness|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|WS2-OA|digenic Waardenburg syndrome/albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|albinism, ocular, with sensorineural deafness											DOID:0090100|UMLS:C1863198|Orphanet:352740|OMIM:103470|ICD10:E70.3																		owl:Class
MONDO:0006490	biolink:NamedThing	vaginal squamous cell carcinoma	A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.	mondoexuq1wtf	vaginal squamous cell carcinoma|epidermoid carcinoma of vagina|squamous cell carcinoma of the vulva/vagina|vagina squamous cell carcinoma|carcinoma of vagina squamous cell|vagina epidermoid cell carcinoma|squamous cell carcinoma of vagina|vaginal epidermoid carcinoma|vaginal squamous cell cancer, NOS|squamous cell carcinoma of the vagina|epidermoid carcinoma of the vagina|epidermoid cell carcinoma of vagina|epidermoid cell carcinoma of the vagina|vaginal epidermoid cell carcinoma|vagina epidermoid carcinoma|vaginal squamous cell cancer											ONCOTREE:VSC|EFO:1000620|UMLS:C0238518|NCIT:C7736|SCTID:105121000119102																		owl:Class
MONDO:0001806	biolink:NamedThing	vaginal squamous tumor	A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.	mondoexuq1wtf	vaginal squamous neoplasm|vagina squamous cell neoplasm|vaginal squamous tumor											DOID:138|UMLS:C1519931|NCIT:C40242																		owl:Class
MONDO:0009897	biolink:NamedThing	adult polyglucosan body disease	Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.	mondoexuq1wtf	polyglucosan body disease, adult|polyglucosan body disease, adult form|polyglucosan body neuropathy, adult form|APBN|APBD											ICD10:E74.0|SCTID:721099001|OMIM:263570|MESH:C564878|GARD:0000108|Orphanet:206583														https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult				owl:Class
MONDO:0015381	biolink:NamedThing	commissural lip fistula	A cysts and fistulae of the face and oral cavity that involves the labial commissure.	mondoexuq1wtf	labial commissure cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of labial commissure											ICD10:Q38.0|Orphanet:141061																		owl:Class
MONDO:0002336	biolink:NamedThing	inflammatory and toxic neuropathy		mondoexuq1wtf						Editor note: consider obsoleting						COHD:378140|ICD9:357.9|ICD9:357.7|ICD9:357.8|DOID:2537|ICD9:357|SCTID:267601009																		owl:Class
MONDO:0004427	biolink:NamedThing	supraglottis neoplasm	A benign or malignant neoplasm that affects the supraglottic area of the larynx.	mondoexuq1wtf	supraglottis tumor|supraglottic tumor|neoplasm of supraglottic part of larynx|supraglottis neoplasm|supraglottic part of larynx tumor|tumor of supraglottis|tumor of the supraglottis|supraglottic part of larynx neoplasm (disease)|supraglottic part of larynx neoplasm|tumor of supraglottic part of larynx|supraglottic neoplasm|neoplasm of the supraglottis|neoplasm of supraglottis											SCTID:126697005|UMLS:C0345726|DOID:8002|NCIT:C6793																		owl:Class
MONDO:0019237	biolink:NamedThing	inborn disorder of pyridoxine metabolism	An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.	mondoexuq1wtf	disorder of pyridoxine metabolism|inborn error of pyridoxine metabolic process|inborn pyridoxine metabolic process disorder|rare inborn error of pyridoxine metabolic process											UMLS:CN227600|ICD10:G40.8|Orphanet:79192																		owl:Class
MONDO:0044913	biolink:NamedThing	metastatic malignant neoplasm in the eye	A malignant neoplasm that has spread to the eye from another anatomic site.	mondoexuq1wtf	eye metastasis|Metastases to eye|metastasis to the eye|Metastatic neoplasm to the eye|Metastatic tumor to the eye|metastasis to eye|Metastatic malignant neoplasm in the eye|Metastatic malignant neoplasm to the eye|Metastases to the eye											NCIT:C4586|UMLS:C0347019|SCTID:94292003																		owl:Class
MONDO:0014367	biolink:NamedThing	Aicardi-Goutieres syndrome 7	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.	mondoexuq1wtf	Aicardi-Goutieres syndrome 7|IFIH1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|AGS7											UMLS:C3888244|OMIM:615846																		owl:Class
MONDO:0005997	biolink:NamedThing	tricuspid valve stenosis	Narrowing or stricture of the tricuspid orifice of the heart.	mondoexuq1wtf	tricuspid stenosis											MESH:D014264|SCTID:49915006|HP:0010446|EFO:0007525|UMLS:C0040963|DOID:4078																		owl:Class
MONDO:0021276	biolink:NamedThing	papilloma of buccal mucosa	A papilloma that involves the buccal mucosa.	mondoexuq1wtf	buccal mucosa papilloma|papilloma of the buccal mucosa											NCIT:C5819|UMLS:C1332641|ICD9:210.4|SCTID:448147005																		owl:Class
MONDO:0009244	biolink:NamedThing	Freesia Flowers, inability to smell		mondoexuq1wtf	Freesia Flowers, inability to smell											OMIM:229250																		owl:Class
MONDO:0030982	biolink:NamedThing	sulfide quinone oxidoreductase deficiency		mondoexuq1wtf	sulfide:quinone oxidoreductase deficiency|SQORD											OMIM:619221																		owl:Class
MONDO:0005485	biolink:NamedThing	psychotic disorder	An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.	mondoexuq1wtf	mental or behavioural disorder|psychosis											HP:0000709|ICD9:298.9|EFO:0005407|DOID:2468|SCTID:69322001|ICD9:298.8|NCIT:C78576																		owl:Class
MONDO:0012791	biolink:NamedThing	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.	mondoexuq1wtf	mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial encephalomyopathy aminoacidopathy|MTDPS5|encephalomyopathy|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive|mitochondrial DNA depletion syndrome 5|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy-aminoacidopathy syndrome|booth-Haworth-Dilling syndrome|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|mitochondrial DNA depletion syndrome type 5											MESH:C567624|DOID:0080124|Orphanet:1933|OMIM:612073|ICD10:G71.3|GARD:0003681														https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy				owl:Class
MONDO:0016062	biolink:NamedThing	median cleft lip/mandibule	Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.	mondoexuq1wtf	median cleft lower facial stage											ICD10:Q36.1|Orphanet:2006|SCTID:723383005																		owl:Class
MONDO:0011027	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 1		mondoexuq1wtf	diabetes mellitus, noninsulin-dependent, type 1|diabetes mellitus, noninsulin-dependent, 1|NIDDM1|noninsulin-dependent diabetes mellitus 1											MESH:C563359|UMLS:C1832544|OMIM:601283																		owl:Class
MONDO:0023015	biolink:NamedThing	duodenal atresia tetralogy of fallot		mondoexuq1wtf												GARD:0001919														https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot				owl:Class
MONDO:0000429	biolink:NamedThing	autosomal genetic disease	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.	mondoexuq1wtf	autosomal hereditary disorder|autosomal inherited disorder|autosomal inherited disease											DOID:0050739|SCTID:1899006|UMLS:C0265384|ICD9:758.5																		owl:Class
MONDO:0013693	biolink:NamedThing	inflammatory skin and bowel disease, neonatal, 1	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.	mondoexuq1wtf	inflammatory skin and bowel disease, neonatal, 1|neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, type 1|ADAM17 neonatal inflammatory skin and bowel disease|NISBD1											OMIM:614328|UMLS:C3280501																		owl:Class
MONDO:0019740	biolink:NamedThing	acquired thrombotic thrombocytopenic purpura	Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	mondoexuq1wtf	acquired thrombotic thrombocytopenic purpura|acquired ADAMTS13 deficiency|acquired TTP|autoimmune thrombotic thrombocytopenic purpura|Moschowitz syndrome|idiopathic thrombotic thrombocytopenic purpura|purpura, thrombotic thrombocytopenic|TTP											Orphanet:93585|GARD:0004607|UMLS:C2584777|SCTID:438476003|ICD10:M31.3|MESH:C536901|UMLS:C2584778|NCIT:C131653																		owl:Class
MONDO:0018896	biolink:NamedThing	thrombotic thrombocytopenic purpura	Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.	mondoexuq1wtf	TTP|Moschowitz disease|Moschcowitz's syndrome|Moschcowitz disease											MESH:D011697|SCTID:78129009|DOID:10772|ICD10:M31.1|COHD:4301602|MedDRA:10043648|NCIT:C78797|Orphanet:54057|UMLS:C0034155																		owl:Class
MONDO:0010311	biolink:NamedThing	Becker muscular dystrophy	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	mondoexuq1wtf	Becker's muscular dystrophy|muscular dystrophy, Becker type|muscular dystrophy, pseudohypertrophic progressive, Becker type|muscular dystrophy pseudohypertrophic progressive, Becker type|benign congenital myopathy|benign pseudohypertrophic muscular dystrophy|BMD|Becker dystrophinopathy|Becker muscular dystrophy											Orphanet:98895|NCIT:C84587|MedDRA:10059117|DOID:9883|ICD10:G71.0|SCTID:387732009|MESH:C570377|OMIM:300376|GARD:0005900|UMLS:C3490459|UMLS:C0699741														https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy				owl:Class
MONDO:0010542	biolink:NamedThing	dilated cardiomyopathy 3B	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	mondoexuq1wtf	dilated cardiomyopathy type 3B|DMD-related dilated cardiomyopathy|X-linked dilated cardiomyopathy|cardiomyopathy, dilated, X-linked|cardiomyopathy, dilated, type 3B|DMD dilated cardiomyopathy|CMD3B|dilated cardiomyopathy caused by mutation in DMD|cardiomyopathy, dilated, 3B											OMIM:302045|ICD10:I42.0|DOID:0110461|ICD9:425.4|MESH:C580047|DOID:0060561|UMLS:C3668940|SCTID:702424003																		owl:Class
MONDO:0022805	biolink:NamedThing	colonic malakoplakia		mondoexuq1wtf												GARD:0006137														https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia				owl:Class
MONDO:0017039	biolink:NamedThing	drug or radiation exposure-related interstitial lung disease		mondoexuq1wtf												ICD10:J70.1|Orphanet:264978|ICD10:J70.4|ICD10:J70.0|UMLS:CN202350|ICD10:J70.3|ICD10:J70.2																		owl:Class
MONDO:0017040	biolink:NamedThing	exposure-related interstitial lung disease		mondoexuq1wtf												Orphanet:264984|UMLS:CN202351																		owl:Class
MONDO:0003196	biolink:NamedThing	appendix carcinoma	A carcinoma that arises from epithelial cells of the vermiform appendix	mondoexuq1wtf	carcinoma of appendix|vermiform appendix carcinoma|carcinoma of the appendix|carcinoma of vermiform appendix|appendix carcinoma|appendix cancer|Ca appendix											UMLS:C0728951|SCTID:448992002|DOID:4902|NCIT:C9330																		owl:Class
MONDO:0015703	biolink:NamedThing	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		mondoexuq1wtf	T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta											Orphanet:169160|ICD10:D81.2																		owl:Class
MONDO:0018538	biolink:NamedThing	inherited digestive cancer-predisposing syndrome		mondoexuq1wtf												Orphanet:425003|UMLS:CN237539																		owl:Class
MONDO:0001121	biolink:NamedThing	frontal sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.	mondoexuq1wtf												UMLS:C0016735|SCTID:78737005|DOID:10791|NCIT:C34626|ICD10:J32.1|MESH:D015522																		owl:Class
MONDO:0007424	biolink:NamedThing	autosomal dominant nonsyndromic deafness 1	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.	mondoexuq1wtf	deafness, autosomal dominant 1|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|deafness, autosomal dominant 1, with or without thrombocytopenia|Konigsmark syndrome|DIAPH1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 1|LFHL1|DFNA1|autosomal dominant deafness 1|hereditary low frequency hearing loss 1|deafness, autosomal dominant type 1|hereditary Low frequency hearing loss|deafness, progressive Low tone											DOID:0110541|UMLS:C1852282|MESH:C565121|ICD10:H90.3|OMIM:124900																		owl:Class
MONDO:0009097	biolink:NamedThing	persistent hyperplastic primary vitreous, autosomal recessive	Autosomal recessive form of persistent hyperplastic primary vitreous.	mondoexuq1wtf	PHPVAR|retinal nonattachment and falciform detachment|autosomal recessive persistent hyperplastic primary vitreous|retinal nonattachment, nonsyndromic congenital|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive											OMIM:221900|UMLS:C1969783|Orphanet:300337																		owl:Class
MONDO:0018962	biolink:NamedThing	common mesentery		mondoexuq1wtf	universal mesentery											Orphanet:620|ICD10:Q43.3|UMLS:C0266235|SCTID:52159006																		owl:Class
MONDO:0017565	biolink:NamedThing	macrodactyly of fingers, bilateral		mondoexuq1wtf	macrodactyly of hand, bilateral											Orphanet:295241|ICD10:Q74.0																		owl:Class
MONDO:0017474	biolink:NamedThing	macrodactyly of fingers		mondoexuq1wtf	Megalodactyly of the hand|megalodactylism of the hand|macrodactyly of hand|macrodactyly of the hand											HP:0100746|MESH:C537720|Orphanet:295044|SCTID:297195000|ICD10:Q74.0|GARD:0008529																		owl:Class
MONDO:0010758	biolink:NamedThing	Wieacker-Wolff syndrome	A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.	mondoexuq1wtf	Wieacker-Wolff syndrome|MRXS4|contractures of feet, muscle atrophy, and oculomotor apraxia|mental retardation, X-linked, with congenital contractures and low fingertip arches|mental retardation, X-linked, syndromic 4|Miles-Carpenter syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy|Wieacker syndrome|Wieacker Wolff syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome|WRWFXLR|intellectual disability-developmental delay-contractures syndrome|WRWF|MCS|X-linked intellectual disability, Miles-Carpenter type|mental retardation, X-linked, with congenital contractures and Low fingertip arches|Miles-CARPENTER X-linked mental retardation syndrome|Wieacker-Wolff syndrome, X-linked											GARD:0009984|Orphanet:3454|MESH:C537472|ICD10:G71.8|MESH:C536703|OMIM:309605|Orphanet:85283|DOID:0060815|OMIM:314580|ICD10:Q87.8|SCTID:722456001|SCTID:719012009|GARD:0007890																		owl:Class
MONDO:0011518	biolink:NamedThing	Wiedemann-Steiner syndrome	Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.	mondoexuq1wtf	A syndrome of abnormal facies, short stature, and psychomotor retardation|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|Wiedemann Grosse Dibbern syndrome|Wiedemann-Steiner syndrome|WDSTS|hairy elbows, short stature, Facial Dysmorphism, and developmental delay											GARD:0005565|OMIM:605130|ICD10:Q87.1|Orphanet:319182|MESH:C536704														https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome				owl:Class
MONDO:0018656	biolink:NamedThing	tremor-ataxia-central hypomyelination syndrome		mondoexuq1wtf	tach syndrome											ICD10:E75.2|Orphanet:447896|UMLS:CN237714																		owl:Class
MONDO:0019467	biolink:NamedThing	CD4+/CD56+ hematodermic neoplasm	An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.	mondoexuq1wtf	BPDCN|early plasmacytoid Dendritic cell leukemia/lymphoma|agranular CD4+ natural Killer cell leukemia|agranular CD4+ CD56+ hematodermic neoplasm/tumor|CD4+/CD56+ hematodermic neoplasm|blastic plasmacytoid dendritic cell neoplasm|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|lymphoblastoid variant of NK-cell lymphoma|blastic plasmacytoid dendritic cell|blastic plasmacytoid Dendritic cell neoplasm|blastic NK-cell lymphoma|blastic natural Killer leukemia/lymphoma|monomorphic NK-cell lymphoma											ONCOTREE:BPDCN|ICD9:202.80|ICDO:9727/3|UMLS:CN206246|SCTID:445105005|NCIT:C7203|GARD:0010556|ICD10:C86.4|Orphanet:86870|UMLS:C1301363														https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell				owl:Class
MONDO:0017310	biolink:NamedThing	Marfan and Marfan-related disorder		mondoexuq1wtf												Orphanet:284993|UMLS:CN227112																		owl:Class
MONDO:0054843	biolink:NamedThing	ciliary dyskinesia, primary, 38		mondoexuq1wtf	ciliary dyskinesia, PRIMARY, 38|ciliary dyskinesia, Primary, 38, with or without situs inversus|CILD38											UMLS:CN252651|OMIM:618063																		owl:Class
MONDO:0015784	biolink:NamedThing	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		mondoexuq1wtf												Orphanet:177904|UMLS:CN200366|ICD10:Q87.1																		owl:Class
MONDO:0044743	biolink:NamedThing	major salivary gland cancer	A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant neoplasm of major salivary gland|malignant tumor of the Major salivary gland|cancer of major salivary gland|malignant tumor of major salivary gland|malignant neoplasm of major salivary glands|malignant Major salivary gland neoplasm|malignant neoplasm of Major salivary gland|malignant neoplasm of the Major salivary gland|malignant Major salivary gland tumor|malignant tumor of Major salivary gland|malignant major salivary gland neoplasm											UMLS:C0496763|NCIT:C4762|SCTID:363378008																		owl:Class
MONDO:0021368	biolink:NamedThing	neoplasm of major salivary gland	A neoplasm (disease) that involves the major salivary gland.	mondoexuq1wtf	major salivary gland neoplasm (disease)|major salivary gland neoplasm|neoplasm of the Major salivary gland|tumor of Major salivary gland|tumor of the Major salivary gland|neoplasm of major salivary gland|major salivary gland tumor|tumor of major salivary gland											NCIT:C4407|UMLS:C0345599|SCTID:126787005																		owl:Class
MONDO:0004679	biolink:NamedThing	leukoplakia of vagina	Leukoplakia of the vagina.	mondoexuq1wtf	vaginal leukoplakia|leukoplakia of the vagina											SCTID:111420009|NCIT:C3663|ICD10:N89.4|DOID:8920|UMLS:C0156385|ICD9:623.1|COHD:194703																		owl:Class
MONDO:0000173	biolink:NamedThing	muscular dystrophy-dystroglycanopathy, type C		mondoexuq1wtf												OMIMPS:609308|UMLS:CN262500|DC:0000661																		owl:Class
MONDO:0012075	biolink:NamedThing	oligodontia-cancer predisposition syndrome		mondoexuq1wtf	oligodontia-colorectal cancer syndrome|ODCRCS|autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|tooth agenesis-colorectal cancer syndrome											MESH:C563898|Orphanet:300576|UMLS:C1837750|OMIM:608615																		owl:Class
MONDO:0032774	biolink:NamedThing	cerebellar, ocular, craniofacial, and genital syndrome		mondoexuq1wtf	CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME|COFG											OMIM:618479																		owl:Class
MONDO:0006212	biolink:NamedThing	flat urothelial hyperplasia	A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003	mondoexuq1wtf	flat urothelial hyperplasia											NCIT:C27878|EFO:1000259																		owl:Class
MONDO:0024483	biolink:NamedThing	urothelial hyperplasia	Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003	mondoexuq1wtf	urothelial hyperplasia|urothelium hyperplasia											NCIT:C27877																		owl:Class
MONDO:0016855	biolink:NamedThing	Mowat-Wilson syndrome due to monosomy 2q22		mondoexuq1wtf	Mowat-Wilson syndrome due to del(2)q(22)|Mowat-Wilson syndrome due to monosomy type 2q22|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to del(2)(q22)|Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to monosomy 2q22											Orphanet:261537|UMLS:CN202198|ICD10:Q43.1																		owl:Class
MONDO:0032809	biolink:NamedThing	hepatitis, fulminant viral, susceptibility to		mondoexuq1wtf	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO|FVH											OMIM:618549																		owl:Class
MONDO:0100066	biolink:NamedThing	TH-deficient progressive infantile encephalopathy	A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.	mondoexuq1wtf	tyrosine hydroxylase-deficient progressive infantile encephalopathy				2018-11-10 00:10:46+00:00																									owl:Class
MONDO:0005478	biolink:NamedThing	torsades de pointes	A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.	mondoexuq1wtf												HP:0001664|SCTID:31722008|EFO:0005307|MESH:D016171|UMLS:C0040479																		owl:Class
MONDO:0005477	biolink:NamedThing	ventricular tachycardia	A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)	mondoexuq1wtf												MESH:D017180|UMLS:C0042514|SCTID:25569003|NCIT:C50802|COHD:4103295|EFO:0005306|ICD10:I47.2																		owl:Class
MONDO:0011603	biolink:NamedThing	GNE myopathy	Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.	mondoexuq1wtf	inclusion body myopathy, autosomal recessive|Nonaka distal myopathy|quadriceps sparing myopathy|myopathy, distal, with rimmed vacuoles|inclusion body myopathy 2, autosomal recessive, formerly|quadriceps-sparing myopathy|NM|inclusion body myopathy autosomal recessive|distal myopathy, Nonaka type|inclusion body myopathy 2, autosomal recessive|inclusion body myopathy type 2|hereditary inclusion body myopathy type 2|HIBM2|IBM2|inclusion body myopathy, hereditary, autosomal recessive|Nonaka myopathy|DMRV|myopathy, distal, with or without rimmed vacuoles|inclusion body myopathy, quadriceps-sparing|rimmed vacuole myopathy|QSM|distal myopathy with rimmed vacuoles											OMIM:605820|GARD:0009493|Orphanet:602|ICD10:G71.8|SCTID:702382000																		owl:Class
MONDO:0033615	biolink:NamedThing	coenzyme q10 deficiency, primary, 9		mondoexuq1wtf	COQ10D9											OMIM:619028																		owl:Class
MONDO:0025506	biolink:NamedThing	porcine postweaning multisystemic wasting syndrome	A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.	mondoexuq1wtf	postweaning multisystemic wasting syndrome, porcine											UMLS:C1721016|MESH:D053570																		owl:Class
MONDO:0043789	biolink:NamedThing	serum sickness	Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.	mondoexuq1wtf	sickness, serum|protein sickness|serum sickness|transfusion reaction due to serum protein reaction|Sicknesses, serum|intoxication by serum|serum Sicknesses|serum reaction											UMLS:C0036830|SCTID:72284000|EFO:1001845|MESH:D012713|NCIT:C79718																		owl:Class
MONDO:0021112	biolink:NamedThing	scrotum cancer	A primary or metastatic malignant neoplasm affecting the scrotum.	mondoexuq1wtf	malignant scrotum neoplasm|malignant neoplasm of scrotum|malignant tumor of the scrotum|malignant tumor of scrotum|cancer of scrotum|malignant neoplasm of the scrotum|scrotum cancer|malignant scrotal tumor|malignant scrotal neoplasm											SCTID:363454002|NCIT:C3560|ICD9:187.7|UMLS:C0153604																		owl:Class
MONDO:0003319	biolink:NamedThing	scrotum neoplasm	A benign or malignant neoplasm that affects the scrotum.	mondoexuq1wtf	scrotum tumor|scrotal neoplasm|malignant scrotal neoplasm|tumor of the scrotum|neoplasm of the scrotum|malignant tumor of scrotum|scrotal tumor|malignant tumour of scrotum|scrotum neoplasm (disease)|tumor of scrotum|neoplasm of scrotum|scrotal Ca											SCTID:126905005|NCIT:C4380|ICD9:239.5|ICD10:C63.2|DOID:518|UMLS:C0341790|ICD9:187.7																		owl:Class
MONDO:0006250	biolink:NamedThing	ileal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	ileum carcinoid tumor (disease)|carcinoid tumor of ileum|ileum NET G1|ileum neuroendocrine neoplasm G1|ileal carcinoid tumor|ileum neuroendocrine tumor, well differentiated, low grade|ileum carcinoid tumor|carcinoid tumor of the ileum|ileal neuroendocrine tumor G1|ileal NET G1|grade 1 neuroendocrine neoplasm of ileum										MONDO:0021536	UMLS:C0745216|SCTID:425318003|NCIT:C4935|EFO:1000300|ICD9:209.03																		owl:Class
MONDO:0013747	biolink:NamedThing	atrioventricular septal defect 4	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	mondoexuq1wtf	atrioventricular septal defect caused by mutation in GATA4|atrioventricular septal defect type 4|atrioventricular septal defect 4|GATA4 atrioventricular septal defect|AVSD4											OMIM:614430|UMLS:C3280781																		owl:Class
MONDO:0021290	biolink:NamedThing	carcinoma in situ of appendix	A in situ carcinoma that involves the vermiform appendix.	mondoexuq1wtf	stage 0 appendix cancer|carcinoma in situ of the appendix|stage 0 appendix carcinoma|vermiform appendix in situ carcinoma|vermiform appendix carcinoma in situ|stage 0 vermiform appendix carcinoma|carcinoma in situ of vermiform appendix|stage 0 appendix carcinoma aJCC v7											NCIT:C4593|UMLS:C0347125|SCTID:92539008																		owl:Class
MONDO:0015534	biolink:NamedThing	juvenile xanthogranuloma	A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.	mondoexuq1wtf	Naevoxanthoendothelioma|JXG|multiple eruptive juvenile xanthogranuloma|juvenile xanthogranuloma|xanthoma neviforme											UMLS:C0043324|Orphanet:158000|MESH:D014972|ICD10:D76.3|NCIT:C3451|SCTID:400204000|EFO:1000311|DOID:4424																		owl:Class
MONDO:0010065	biolink:NamedThing	spinocerebellar degeneration with slow eye movements		mondoexuq1wtf	spinocerebellar degeneration with slow eye movements|SDSEM					Editor note: check this						OMIM:271322																		owl:Class
MONDO:0008458	biolink:NamedThing	spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	mondoexuq1wtf	Wadia swami syndrome|ATXN2 autosomal dominant cerebellar ataxia type I|spinocerebellar ataxia with slow eye movements|olivopontocerebellar atrophy, Holguin type|SCA2|spinocerebellar ataxia, Cuban type|amyotrophic lateral sclerosis, susceptibility to, 13|cerebellar Degeneration with slow eye movements|spinocerebellar ataxia type 2|OPCA2|spinocerebellar Degeneration with slow eye movements|olivopontocerebellar atrophy 2|ALS13|amyotrophic lateral sclerosis 13|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|SCA 2|spinocerebellar atrophy 2|spinocerebellar ataxia 2|spinocerebellar ataxia Cuban type|olivopontocerebellar atrophy Holguin type|Wadia-swami syndrome|amyotrophic lateral sclerosis type 13											Orphanet:98756|GARD:0004072|SCTID:715751004|OMIM:183090|UMLS:C0752121|NCIT:C148315|DOID:0050955|ICD10:G11.2																		owl:Class
MONDO:0006106	biolink:NamedThing	benign smooth muscle neoplasm	A benign mesenchymal neoplasm arising from smooth muscle tissue.	mondoexuq1wtf	benign tumor of the smooth muscle|benign neoplasm of smooth muscle|smooth muscle tissue benign neoplasm|benign smooth muscle tumor|benign smooth muscle neoplasm|benign neoplasm of the smooth muscle|benign tumor of smooth muscle											NCIT:C6510|UMLS:C1332539|EFO:1000121																		owl:Class
MONDO:0006975	biolink:NamedThing	smooth muscle tumor	A benign or malignant myomatous neoplasm arising from smooth muscle.	mondoexuq1wtf	tumor of the smooth muscle|tumor of smooth muscle|neoplasm of the smooth muscle|smooth muscle neoplasm|neoplasm of smooth muscle|smooth muscle tumor											NCIT:C3751|DOID:4310|UMLS:C0206658|MESH:D018235|EFO:1001185																		owl:Class
MONDO:0001266	biolink:NamedThing	erysipelas	An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.	mondoexuq1wtf						The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes						UMLS:C0014733|SCTID:44653001|ICD9:035|COHD:138346|ICD10:A46|DOID:11330|HP:0001055|MESH:D004886|EFO:1001462|GARD:0006370														https://rarediseases.info.nih.gov/diseases/6370/erysipelas				owl:Class
MONDO:0012667	biolink:NamedThing	dilated cardiomyopathy 1W	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	mondoexuq1wtf	dilated cardiomyopathy type 1W|familial isolated dilated cardiomyopathy caused by mutation in VCL|VCL familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1W|CMD1W|cardiomyopathy, dilated, 1W											OMIM:611407|MESH:C566954|ICD10:I42.0|UMLS:C1969639|DOID:0110446																		owl:Class
MONDO:0021131	biolink:NamedThing	frontal lobe ependymal tumor	An ependymal tumor affecting the frontal lobe of the brain.	mondoexuq1wtf	ependymal tumor of frontal lobe|frontal lobe ependymal tumor											NCIT:C131573|UMLS:C4330009																		owl:Class
MONDO:0013540	biolink:NamedThing	deafness-lymphedema-leukemia syndrome	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.	mondoexuq1wtf	lymphedema, primary, with myelodysplasia|Emberger syndrome											OMIM:614038|GARD:0013030|ICD10:D46.7|UMLS:C3279664|ICD9:757.0|SCTID:700057001|Orphanet:3226														https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome				owl:Class
MONDO:0032626	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 22		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22|MC1DN22											OMIM:618243																		owl:Class
MONDO:0016842	biolink:NamedThing	paternal 20q13.2q13.3 microdeletion syndrome	Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	mondoexuq1wtf	paternal monosomy 20q13.2-q13.3|paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2q13.3|paternal 20q13.2-q13.3 microdeletion syndrome											Orphanet:261304|UMLS:CN202182|ICD10:Q93.5|SCTID:724070005|UMLS:C4510306																		owl:Class
MONDO:0019916	biolink:NamedThing	maternal uniparental disomy of chromosome 16		mondoexuq1wtf	UPD(16)mat|maternal uniparental disomy of chromosome type 16											ICD10:Q99.8|Orphanet:96185																		owl:Class
MONDO:0020857	biolink:NamedThing	ovarian dysgenesis 7		mondoexuq1wtf	OVARIAN DYSGENESIS 7|ODG7											OMIM:618117|DOID:0080499																		owl:Class
MONDO:0016283	biolink:NamedThing	leiomyosarcoma of the cervix uteri	Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.	mondoexuq1wtf	leiomyosarcoma of uterine cervix|CELI|cervical leiomyosarcoma|uterine cervix leiomyosarcoma											SCTID:763771009|ICD10:C53.1|UMLS:CN201073|Orphanet:213807|ONCOTREE:CELI|NCIT:C128047|ICD10:C53.8|ICD10:C53.0|UMLS:C4289817																		owl:Class
MONDO:0011882	biolink:NamedThing	skin fragility-woolly hair-palmoplantar keratoderma syndrome		mondoexuq1wtf	SFWHS|skin fragility-woolly hair syndrome|skin fragility woolly hair syndrome|skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome											Orphanet:293165|ICD10:Q82.8|OMIM:607655|UMLS:C1843292|MESH:C564359|GARD:0005231														https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome				owl:Class
MONDO:0004724	biolink:NamedThing	submandibular gland cancer	A malignant neoplasm involving the submandibular gland.	mondoexuq1wtf	malignant tumor of the submandibular gland|malignant neoplasm of submandibular gland|malignant tumor of submandibular gland|carcinoma of the submandibular gland|submandibular gland carcinoma|carcinoma of submandibular gland|malignant neoplasm of submaxillary gland|submandibular gland cancer|malignant submandibular gland neoplasm|cancer of submandibular gland											DOID:9173|COHD:22557|SCTID:363380002|ICD9:142.1|ICD10:C08.0|UMLS:C0153360|NCIT:C8396																		owl:Class
MONDO:0012802	biolink:NamedThing	oculoauricular syndrome	Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).	mondoexuq1wtf	oculoauricular syndrome|oculoauricular syndrome, Schorderet type|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear|OCACS|Schorderet-Munier-Franceschetti syndrome											OMIM:612109|DOID:0060482|Orphanet:157962|ICD10:Q87.8|UMLS:C2677500|MESH:C567416																		owl:Class
MONDO:0003813	biolink:NamedThing	ovarian papillary tumor	A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.	mondoexuq1wtf	papillary neoplasm of the ovary|papillary tumor of the ovary|ovarian papillary tumor (morphologic abnormality)|papillary tumor of ovary|ovarian papillary neoplasm|papillary neoplasm of ovary|ovarian papillary tumor|ovarian papillary tumour											NCIT:C8430|UMLS:C0476121|DOID:6214																		owl:Class
MONDO:0001616	biolink:NamedThing	lobomycosis	A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.	mondoexuq1wtf	infection by Loboa loboi|cutaneous lobomycosis|cutaneous blastomycosis											ICD10:B48.0|DOID:13026|EFO:1001805|MESH:D060368|SCTID:47306003|UMLS:C0152066|ICD9:116.2																		owl:Class
MONDO:0002040	biolink:NamedThing	dermatomycosis	Superficial infections of the skin or its appendages by any of various fungi.	mondoexuq1wtf												DOID:1563|ICD9:111.9|MESH:D003881|UMLS:C0011630|ICD9:111																		owl:Class
MONDO:0000928	biolink:NamedThing	eyelid melanoma	A melanoma that arises from the upper or lower eyelid.	mondoexuq1wtf	eyelid melanoma (disease)|melanoma of the eyelid|malignant melanoma of the eyelid|melanoma (disease) of eyelid|eyelid melanoma|melanoma of eyelid|malignant eyelid melanoma|malignant melanoma of eyelid											NCIT:C4358|DOID:10040|ICD9:172.1|UMLS:C0339116|SCTID:231834005																		owl:Class
MONDO:0015033	biolink:NamedThing	ABeta amyloidosis, dutch type	Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.	mondoexuq1wtf	ABetaE22Q amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA-D|cerebral amyloid angiopathy, APP-related, Dutch variant|HCHWA, Dutch type											SCTID:56453003|ICD9:277.39|ICD10:I68.0*|ICD10:E85.4+|Orphanet:100006																		owl:Class
MONDO:0011583	biolink:NamedThing	cerebral amyloid angiopathy, APP-related	A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.	mondoexuq1wtf	cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related|cerebral amyloid angiopathy, APP-related, Dutch variant|APP-related cerebral amyloid angiopathy|amyloidosis, Cerebroarterial, APP-related|amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Italian variant|HCHWAD|cerebral amyloid angiopathy, APP-related, Flemish variant|cerebral amyloid angiopathy, APP-related, Iowa variant											UMLS:C3888308|UMLS:C2751536|UMLS:C3888309|OMIM:605714|DOID:0070028|UMLS:C3888307|UMLS:C2751494																		owl:Class
MONDO:0021299	biolink:NamedThing	carcinoma in situ of extrahepatic bile duct	A in situ carcinoma that involves the extrahepatic bile duct.	mondoexuq1wtf	stage 0 extrahepatic bile duct carcinoma in situ|stage 0 carcinoma of the extrahepatic bile duct|carcinoma in situ of extrahepatic bile duct|carcinoma in situ of extrahepatic bile ducts|extrahepatic bile duct cancer stage 0|extrahepatic bile duct in situ carcinoma|extrahepatic biliary duct carcinoma in situ|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of extrahepatic biliary ducts|stage 0 extrahepatic bile duct cancer|carcinoma in situ of the extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct carcinoma in situ											UMLS:C0345914|NCIT:C4442|SCTID:92589000																		owl:Class
MONDO:0000374	biolink:NamedThing	bile duct carcinoma in situ	A carcinoma in situ involving a bile duct.	mondoexuq1wtf	carcinoma in situ of bile duct|bile duct in situ carcinoma|stage 0 bile duct carcinoma											DOID:0050613																		owl:Class
MONDO:0021088	biolink:NamedThing	papillary meningioma	A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.	mondoexuq1wtf	papillary meningioma											NCIT:C3904|ICDO:9538/3|ONCOTREE:PPM|UMLS:C3163622																		owl:Class
MONDO:0020753	biolink:NamedThing	Orthocoronavirinae infectious disease	Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.	mondoexuq1wtf	coronavirus infectious disease											DOID:0080599																		owl:Class
MONDO:0018169	biolink:NamedThing	morning glory syndrome	Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.	mondoexuq1wtf	Volubilis syndrome|Ectasic coloboma											Orphanet:35737|ICD10:Q14.2|GARD:0013354|UMLS:C0549307|MedDRA:10027974														https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome				owl:Class
MONDO:0000763	biolink:NamedThing	epithelial and subepithelial corneal dystrophy		mondoexuq1wtf	epithelial and subepithelial dystrophy											DOID:0060440																		owl:Class
MONDO:0000531	biolink:NamedThing	bronchus mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the bronchus.	mondoexuq1wtf	bronchus mucoepidermoid carcinoma											DOID:0050916																		owl:Class
MONDO:0005616	biolink:NamedThing	pulmonary mucoepidermoid carcinoma	A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.	mondoexuq1wtf	mucoepidermoid carcinoma of the lung|lung mucoepidermoid carcinoma|lung mucoepidermoid cancer											ONCOTREE:LUMEC|NCIT:C45544|UMLS:C1708778|DOID:0050932|EFO:0006740																		owl:Class
MONDO:0016887	biolink:NamedThing	partial deletion of the short arm of chromosome 5		mondoexuq1wtf	partial monosomy of the short arm of chromosome 5|partial monosomy of chromosome 5p|partial deletion of the short arm of chromosome type 5|partial deletion of chromosome 5p											Orphanet:261893|ICD10:Q93.4																		owl:Class
MONDO:0016723	biolink:NamedThing	pineocytoma	Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.	mondoexuq1wtf	pineocytoma|benign pinealoma|pineocytoma, benign|Pineocytoma (WHO grade I)|pineocytoma (disease)|pinealocytoma		pineocytoma (disease)									GARD:0008207|ICDO:9361/1|UMLS:C0917890|SCTID:255045009|HP:0030407|Orphanet:251912|NCIT:C6966|ONCOTREE:PINC|MedDRA:10035059|EFO:1000476|ICD10:D44.5																		owl:Class
MONDO:0003209	biolink:NamedThing	thymus gland adenocarcinoma	A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.	mondoexuq1wtf	Thymus adenocarcinoma|thymic adenocarcinoma|thymus adenocarcinoma|adenocarcinoma of the Thymus|adenocarcinoma of Thymus											DOID:4923|UMLS:C1336743|NCIT:C6459																		owl:Class
MONDO:0018490	biolink:NamedThing	cono-spondylar dysplasia	Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	mondoexuq1wtf	short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome											UMLS:CN237491|SCTID:766874001|Orphanet:420794|ICD10:Q77.7																		owl:Class
MONDO:0009400	biolink:NamedThing	hyperprolinemia type 1	Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).	mondoexuq1wtf	hyperprolinemia, type 1|proline oxidase deficiency|HPI|hyperprolinemia caused by mutation in PRODH|PRODH hyperprolinemia|HYRPRO1|hyperprolinemia, type I											SCTID:61071003|MedDRA:10058513|Orphanet:419|DOID:0080542|ICD10:E72.5|ICD9:270.8|OMIM:239500																		owl:Class
MONDO:0012180	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 9	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.	mondoexuq1wtf	arrhythmogenic right ventricular dysplasia, familial, type 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|ARVD9|arrhythmogenic right ventricular dysplasia type 9|familial arrhythmogenic right ventricular dysplasia 9|arrhythmogenic right ventricular cardiomyopathy 9|arrhythmogenic right ventricular dysplasia, familial, 9|ARVC9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia											MESH:C563808|DOID:0110077|ICD10:I42.8|OMIM:609040|UMLS:C1836906																		owl:Class
MONDO:0016181	biolink:NamedThing	solid tumor associated with an acquired peripheral neuropathy		mondoexuq1wtf												UMLS:CN200931|Orphanet:209019																		owl:Class
MONDO:0017180	biolink:NamedThing	10q22.3q23.3 microduplication syndrome		mondoexuq1wtf	trisomy 10q22.3q23.3|dup(10)(q22.3q23.3)											Orphanet:276422|UMLS:CN202619|ICD10:Q92.3																		owl:Class
MONDO:0016961	biolink:NamedThing	partial duplication of the long arm of chromosome 10		mondoexuq1wtf	partial trisomy of the long arm of chromosome 10|partial duplication of chromosome 10q|partial trisomy of chromosome 10q										MONDO:0042978	Orphanet:262914																		owl:Class
MONDO:0014461	biolink:NamedThing	hypogonadotropic hypogonadism 22 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.	mondoexuq1wtf	HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1|hypogonadotropic hypogonadism 22 with or without anosmia|FEZF1 hypogonadotropic hypogonadism											DOID:0090081|OMIM:616030|UMLS:C4014988|ICD10:E23.0																		owl:Class
MONDO:0032485	biolink:NamedThing	intellectual developmental disorder 61		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER 61|MRD61|Mental Retardation, Autosomal Dominant 61											OMIM:618009																		owl:Class
MONDO:0008601	biolink:NamedThing	triglyceride storage disease, type 1		mondoexuq1wtf	triglyceride storage disease, type I											OMIM:190420|MESH:C566031|UMLS:C1860821																		owl:Class
MONDO:0000155	biolink:NamedThing	triglyceride storage disease	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	mondoexuq1wtf	inborn error of sequestering of triglyceride|rare inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder					See text of OMIM 190430.						DC:0000605																		owl:Class
MONDO:0009469	biolink:NamedThing	benign recurrent intrahepatic cholestasis type 1	Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.	mondoexuq1wtf	benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1|cholestasis, benign recurrent intrahepatic 1|cholestasis, benign recurrent intrahepatic, type 1|benign recurrent intrahepatic cholestasis 1|Bric type 1|mild ATP8B1 deficiency|ATP8B1 benign recurrent intrahepatic cholestasis|cholestasis, benign recurrent intrahepatic, 1|BRIC1|Summerskill syndrome|recurrent familial intrahepatic cholestasis 1											OMIM:243300|Orphanet:99960|GARD:0010028|ICD10:K83.1|DOID:0070231														https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1				owl:Class
MONDO:0003742	biolink:NamedThing	heart fibrosarcoma	A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	Cardiac fibrosarcoma|fibrosarcoma of the heart|fibrosarcoma of heart|cardiac fibrosarcoma|heart fibrosarcoma (disease)|heart fibrosarcoma											DOID:6033|UMLS:C1332844|NCIT:C5361																		owl:Class
MONDO:0014708	biolink:NamedThing	ring chromosome 14	Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.	mondoexuq1wtf	Ring chromosome type 14|chromosome 14 ring|RING chromosome 14 syndrome|Ring 14											OMIM:616606|SCTID:702345009|ICD10:Q93.2|MESH:C535487|ICD9:758.89|Orphanet:1440|UMLS:CN233170|GARD:0006072														https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14				owl:Class
MONDO:0016088	biolink:NamedThing	hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.	mondoexuq1wtf	HPRT1 deficiency|HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency											GARD:0002943|ICD9:277.6|ICD10:E79.8|SCTID:124275001|Orphanet:206428																		owl:Class
MONDO:0004378	biolink:NamedThing	pediatric cerebral ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.	mondoexuq1wtf	childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood cerebral ependymoblastoma											UMLS:C1332962|NCIT:C6957|DOID:7841																		owl:Class
MONDO:0016715	biolink:NamedThing	ependymoblastoma	Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.	mondoexuq1wtf	ETMR|ependymoblastoma|ETANTR|embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with Multilayered Rosettes with C19MC amplification|embryonal tumor with Multilayered Rosettes, C19MC-altered|neuroectodermal tumors primitive|embryonal tumor with Multilayered Rosettes|ETMR, C19MC-altered|embryonal tumor with abundant neuropil and true Rosettes											SCTID:715901002|GARD:0006352|Orphanet:251880|ONCOTREE:ETANTR|NCIT:C4915|ICD10:C71.9|UMLS:C0700367|DOID:4794|MedDRA:10014966																		owl:Class
MONDO:0010505	biolink:NamedThing	intellectual disability-balding-patella luxation-acromicria syndrome	Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	mondoexuq1wtf	SHLTS|SCHOLTE syndrome|early balding, patella luxation, acromicria and hypogonadism|Scholte syndrome|early balding, patella luxation, acromicria, and hypogonadism|Scholte-Begeer-van Essen syndrome											MESH:C536638|OMIM:300977|Orphanet:3041|GARD:0000257|SCTID:722002002|UMLS:C1866985|ICD10:Q87.8|OMIM:181515																		owl:Class
MONDO:0006156	biolink:NamedThing	colon sessile serrated adenoma/polyp	A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.	mondoexuq1wtf	colon SSA|colon sessile serrated adenoma/polyp|colon SSP|colon sessile serrated adenoma|colon sessile serrated polyp|colon SSA/P											NCIT:C96464|EFO:1000189|UMLS:C3272791																		owl:Class
MONDO:0006164	biolink:NamedThing	colorectal sessile serrated adenoma/polyp	A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.	mondoexuq1wtf	colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal mixed hyperplastic adenomatous polyp|colorectal sessile serrated adenoma|colorectal SSP|colorectal SSA/P|colorectal sessile serrated adenoma/polyp|colorectal SSA|colorectal sessile serrated polyp											NCIT:C83176|EFO:1000197|UMLS:C2826783																		owl:Class
MONDO:0020706	biolink:NamedThing	Heberden's node	Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.	mondoexuq1wtf	Heberden's node|tuberculum arthriticum											NCIT:C34671|SCTID:239869009																		owl:Class
MONDO:0005709	biolink:NamedThing	common cold	An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.	mondoexuq1wtf	nasopharyngitis, acute|acute coryza|acute nasopharyngitis [common cold]|acute viral rhinopharyngitis|acute nasopharyngitis|nasopharyngitis - acute|rhino-sinusitis|acute rhinitis											ICD9:460|UMLS:C0009443|MESH:D003139|NCIT:C34500|SCTID:82272006|EFO:0007214|ICD10:J00|DOID:10459|COHD:260427																		owl:Class
MONDO:0006096	biolink:NamedThing	atypical endometrial hyperplasia	An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.	mondoexuq1wtf	endometrial hyperplasia with atypia|atypical hyperplasia of the endometrium|atypical hyperplasia of endometrium											ICD9:621.33|NCIT:C4654|COHD:195316|EFO:1000098|UMLS:C0349579|SCTID:277158007																		owl:Class
MONDO:0018167	biolink:NamedThing	primary essential cutis verticis gyrata	Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.	mondoexuq1wtf												ICD10:Q82.8|Orphanet:357220|SCTID:765135003|UMLS:CN204615																		owl:Class
MONDO:0015088	biolink:NamedThing	autosomal dominant pure spastic paraplegia	Autosomal dominant form of pure hereditary spastic paraplegia.	mondoexuq1wtf	autosomal dominant uncomplicated HSP|autosomal dominant pure hereditary spastic paraplegia|autosomal dominant pure SPG|autosomal dominant uncomplicated SPG|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant pure HSP|autosomal dominant uncomplicated spastic paraplegia											ICD10:G11.4|UMLS:CN226594|Orphanet:100980																		owl:Class
MONDO:0021527	biolink:NamedThing	benign neoplasm of meninges	A benign neoplasm that involves the meningeal cluster.	mondoexuq1wtf	meningeal cluster benign neoplasm|benign meningeal neoplasm|meningeal tumors, benign|benign meningeal tumors|benign neoplasms of meninges|benign neoplasms of the meninges|benign meningeal tumor|benign neoplasm of the meninges|benign meninges neoplasm|benign tumor of the meninges|benign tumor of meninges|benign meninges tumor|benign meningeal neoplasms											UMLS:C0348426|SCTID:109913001|NCIT:C4957|ICD10:D32																		owl:Class
MONDO:0004144	biolink:NamedThing	fibrous meningioma	A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.	mondoexuq1wtf	fibrous meningioma (morphologic abnormality)|fibroblastic meningioma											DOID:7211|ICDO:9532/0|EFO:1000258|UMLS:C0334606|NCIT:C4330																		owl:Class
MONDO:0016983	biolink:NamedThing	Bartter syndrome with hypocalcemia	Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)	mondoexuq1wtf	Bartter syndrome type 5|Bartter syndrome type V											UMLS:C3715128|Orphanet:263417|ICD10:E26.8																		owl:Class
MONDO:0001740	biolink:NamedThing	cornea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the cornea.	mondoexuq1wtf	cornea epidermoid carcinoma|epidermoid carcinoma of the cornea|epidermoid carcinoma of cornea|squamous cell carcinoma of the cornea|corneal epidermoid carcinoma|corneal squamous cell carcinoma|cornea squamous cell carcinoma|squamous cell carcinoma of cornea											UMLS:C0346366|NCIT:C4552|DOID:13538|SCTID:255008003																		owl:Class
MONDO:0007305	biolink:NamedThing	cervical vertebral dysplasia		mondoexuq1wtf	cervical vertebral dysplasia (disease)|cervical vertebral dysplasia		cervical vertebral dysplasia (disease)									UMLS:C1861693|OMIM:118005|HP:0008469|MESH:C566140																		owl:Class
MONDO:0029137	biolink:NamedThing	deafness, autosomal dominant 74		mondoexuq1wtf	deafness, autosomal dominant 74|DFNA74											OMIM:618140																		owl:Class
MONDO:0017439	biolink:NamedThing	tetra-amelia		mondoexuq1wtf	tetra-amelia syndrome|total amelia|tetra-amelia, autosomal recessive|Tetraamelia, autosomal recessive											ICD10:Q73.0|GARD:0005148|MESH:C536498|HP:0003057|Orphanet:294971|SCTID:702313004																		owl:Class
MONDO:0019082	biolink:NamedThing	bullous pemphigoid	Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.	mondoexuq1wtf	pemphigoid|Old Age pemphigus|bullous pemphigoid|Senile dermatitis herpetiformis|benign pemphigus|Parapemphigus											MESH:D010391|COHD:4298692|DOID:8506|ICD10:L12|ICD10:L12.0|UMLS:C0030805|ICD9:694.5|EFO:0007187|ICD10:L12.9|SCTID:77090002|Orphanet:703|NCIT:C84389|GARD:0005972																		owl:Class
MONDO:0014039	biolink:NamedThing	mitochondrial DNA depletion syndrome 11	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	mondoexuq1wtf	mitochondrial DNA maintenance syndrome due to MGME1 deficiency|MTDPS11|mtDNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome type 11|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 11|mitochondrial DNA depletion syndrome caused by mutation in MGME1|progressive external ophthalmoplegia-myopathy-emaciation syndrome|PEO-myopathy-emaciation syndrome											DOID:0080129|UMLS:C3554462|Orphanet:352447|OMIM:615084|ICD10:G71.3																		owl:Class
MONDO:0012836	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 12		mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, 12|SLEB12											OMIM:612254																		owl:Class
MONDO:0060556	biolink:NamedThing	joint laxity, short stature, and myopia		mondoexuq1wtf	JLSM|joint laxity, short stature, and myopia											Orphanet:527450|UMLS:C4540020|OMIM:617662																		owl:Class
MONDO:0005362	biolink:NamedThing	erectile dysfunction	Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.	mondoexuq1wtf	impotence, male sexual|male erectile Disorder|impotence|erectile dysfunction|impotence, male|dysfunction, erectile|sexual impotence (finding)|sexual impotence|male sexual impotence|erectile dysfunction (disease)|male impotence|sexual impotence, Male		erectile dysfunction (disease)									MESH:D007172|DOID:1875|EFO:0004234|HP:0000802|NCIT:C34801|SCTID:397803000																		owl:Class
MONDO:0019013	biolink:NamedThing	non-histaminic angioedema	Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	mondoexuq1wtf	angioneurotic edema|bradykinine-induced angioedema|non histamine-induced angioedema											SCTID:41291007|Orphanet:658|UMLS:CN227560|ICD9:995.1																		owl:Class
MONDO:0012789	biolink:NamedThing	dystonia 16	Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.	mondoexuq1wtf	PRKRA dystonic disorder|dystonia type 16|dystonic disorder caused by mutation in PRKRA|DYT-PRKRA|early-onset dystonia parkinsonism|dystonia 16|DYT16|Young-onset dystonia-(parkinsonism)											Orphanet:210571|OMIM:612067|MESH:C567430|UMLS:C2677567|GARD:0010539|SCTID:722435003|ICD10:G24.1|DOID:0090048														https://rarediseases.info.nih.gov/diseases/10539/dystonia-16				owl:Class
MONDO:0000478	biolink:NamedThing	multifocal dystonia	A dystonia that involves two or more unrelated body parts.	mondoexuq1wtf												DOID:0050837																		owl:Class
MONDO:0017391	biolink:NamedThing	Grayson-Wilbrandt corneal dystrophy	Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.	mondoexuq1wtf	GWCD											ICD10:H18.5|Orphanet:293375|SCTID:717286002																		owl:Class
MONDO:0005848	biolink:NamedThing	miliary tuberculosis	I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.	mondoexuq1wtf	tuberculosis miliaris disseminata|acute miliary tuberculosis|disseminated tuberculosis|generalized tuberculosis											EFO:0007368|NCIT:C35086|COHD:434559|ICD9:018.9|ICD10:A19.9|ICD9:018.90|DOID:9861|UMLS:C0152915|ICD9:018.80|SCTID:47604008|ICD9:018|MESH:D014391|UMLS:C0041321|ICD10:A19																		owl:Class
MONDO:0000368	biolink:NamedThing	extrapulmonary tuberculosis	A tuberculosis that occurs at body sites other than the lung.	mondoexuq1wtf												SCTID:423997002|UMLS:C0679362|DOID:0050598																		owl:Class
MONDO:0009737	biolink:NamedThing	galactosialidosis	Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	mondoexuq1wtf	lysosomal protective Protein deficiency|galactosialidosis|PPCA deficiency|neuraminidase deficiency with beta-galactosidase deficiency|protective Protein/Cathepsin a deficiency|lysosomal protective protein deficiency of|cathepsin A deficiency|GSL|cathepsin A deficiency of|Goldberg syndrome|neuraminidase/Beta-galactosidase expression											Orphanet:351|UMLS:C0268233|MESH:C536411|ICD10:E77.1|SCTID:35691006|ICD9:277.6|OMIM:256540|NCIT:C129928|DOID:0080540|GARD:0003953														https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis				owl:Class
MONDO:0032877	biolink:NamedThing	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES|NEDBAS											OMIM:618709																		owl:Class
MONDO:0002712	biolink:NamedThing	epidural spinal canal angiolipoma	An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.	mondoexuq1wtf	angiolipoma of the extradural spinal canal|epidural space angiolipoma|angiolipoma of epidural space|angiolipoma of extradural spinal canal|angiolipoma of epidural spinal canal|extradural spinal canal angiolipoma|angiolipoma of the epidural spinal canal											NCIT:C5424|DOID:3617|UMLS:C1333416																		owl:Class
MONDO:0006085	biolink:NamedThing	angiolipoma	A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.	mondoexuq1wtf	angiolipoma, benign											UMLS:C0206632|DOID:3616|ICDO:8861/0|EFO:1000085|MESH:D018206|SCTID:404057003|NCIT:C3733																		owl:Class
MONDO:0034146	biolink:NamedThing	spastic ataxia-dysarthria due to glutaminase deficiency		mondoexuq1wtf												Orphanet:557056																		owl:Class
MONDO:0014629	biolink:NamedThing	autoimmune interstitial lung disease-arthritis syndrome		mondoexuq1wtf	autoimmune interstitial lung, joint, and kidney disease|copa syndrome|copa defect|AILJK					Editor note: check relationship to RA-ILD						OMIM:616414|Orphanet:444092|ICD10:J84.8|UMLS:C4225334																		owl:Class
MONDO:0000222	biolink:NamedThing	seminal vesicle acute gonorrhea	Acute form of gonococcal seminal vesiculitis.	mondoexuq1wtf	gonococcal seminal vesiculitis, acute|acute gonococcal seminal vesiculitis											SCTID:65049003|UMLS:C0153194|DOID:0050004																		owl:Class
MONDO:0032694	biolink:NamedThing	microcephaly 25, primary, autosomal recessive		mondoexuq1wtf	MCPH25|MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE											OMIM:618351																		owl:Class
MONDO:0019691	biolink:NamedThing	short rib dysplasia		mondoexuq1wtf	ciliopathies with major skeletal involvement|SRP|short-rib dysplasia (with or without polydactyly)											ICD10:Q77.2|Orphanet:93426|ICD9:756.3|SCTID:254050009																		owl:Class
MONDO:0000675	biolink:NamedThing	pain agnosia	Loss of the ability to perceive and process pain.	mondoexuq1wtf	analgesia											EFO:1001484|DOID:0060145|NCIT:C125664																		owl:Class
MONDO:0016431	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2M	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	mondoexuq1wtf	CMT2M											ICD10:G60.0|Orphanet:228179|UMLS:CN201389|SCTID:719514002|UMLS:C4304672																		owl:Class
MONDO:0011674	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate B	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy dominant intermediate B|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|Charcot-Marie-Tooth disease, dominant intermediate B|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2M|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Cmtdi1|Di-CMTB|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, dominant Intermediate type B|CMTDIB|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|DI-CMTB|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|Charcot-Marie-Tooth disease caused by mutation in DNM2|CMTDI1|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease dominant intermediate type B											UMLS:CN197338|GARD:0012438|OMIM:606482|SCTID:765745007|ICD10:G60.0|DOID:0110197|Orphanet:100044																		owl:Class
MONDO:0013139	biolink:NamedThing	neutropenia, severe congenital, 2, autosomal dominant	Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.	mondoexuq1wtf	SCN2|neutropenia, severe congenital, 2, autosomal dominant|autosomal dominant severe congenital neutropenia caused by mutation in GFI1|GFI1 autosomal dominant severe congenital neutropenia											UMLS:C2751288|MESH:C567748|OMIM:613107																		owl:Class
MONDO:0008742	biolink:NamedThing	autosomal dominant severe congenital neutropenia	Autosomal dominant form of severe congenital neutropenia.	mondoexuq1wtf	severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant											GARD:0009558|ICD10:D70|UMLS:C1859966|Orphanet:486														https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant				owl:Class
MONDO:0025376	biolink:NamedThing	African horse sickness	An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.	mondoexuq1wtf	African Horsesickness|equine plague|equine Plagues|Horsesickness, African|Plagues, equine|horse Sicknesses, African|African Horsesicknesses|Sicknesses, African horse|horse sickness, African|plague, equine|African horse Sicknesses|sickness, African horse|Horsesicknesses, African											MESH:D000355|UMLS:C0001748																		owl:Class
MONDO:0003158	biolink:NamedThing	malignant myoepithelioma	An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	mondoexuq1wtf	myoepithelioma, malignant|myoepithelial carcinoma|soft tissue myoepithelial carcinoma|malignant myoepithelioma|myoepithelioma carcinoma											GARD:0010558|DOID:4838|ICDO:8982/3|ONCOTREE:STMYEC|NCIT:C7596|UMLS:C0334699														https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma				owl:Class
MONDO:0013436	biolink:NamedThing	retinitis pigmentosa 39	Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.	mondoexuq1wtf	retinitis pigmentosa 39|retinitis pigmentosa type 39|USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|RP39											UMLS:C3151138|DOID:0110360|ICD10:H35.5|OMIM:613809																		owl:Class
MONDO:0014333	biolink:NamedThing	polymicrogyria, bilateral perisylvian, autosomal recessive		mondoexuq1wtf	polymicrogyria, bilateral perisylvian, autosomal recessive|Pmgr|BPPR											OMIM:615752|UMLS:C3810405																		owl:Class
MONDO:0019154	biolink:NamedThing	androgen insensitivity syndrome	Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	mondoexuq1wtf	testicular feminization syndrome|testicular feminization|androgen insensitivity syndrome|AIS|androgen-insensitivity syndrome|DHTR deficiency|AR deficiency|Feminisation - testicular|Goldberg-Maxwell syndrome|Morris syndrome|testicular feminization syndrome (formerly)|dihydrotestosterone receptor deficiency|Goldberg - Maxwell syndrome|androgen resistance syndrome|androgen receptor deficiency											NCIT:C27226|DOID:4674|UMLS:C0039585|Orphanet:754|ICD10:E34.5|MESH:D013734|ICD9:259.51|COHD:440359|ICD9:259.8|SCTID:12313004|ICD9:259.5|ICD10:E34.50|ICD10:E34.51|GARD:0005803|MedDRA:10056292|OMIM:300068														https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome				owl:Class
MONDO:0017969	biolink:NamedThing	46,XY disorder of sex development of endocrine origin		mondoexuq1wtf	46,XY DSD of endocrine origin											Orphanet:325351|UMLS:CN227232																		owl:Class
MONDO:0010360	biolink:NamedThing	parkinson disease 12		mondoexuq1wtf	Parkinson disease, X-linked|PARK12|Parkinson disease 12											MESH:C564486|UMLS:C1845165|OMIM:300557																		owl:Class
MONDO:0000756	biolink:NamedThing	parameningeal embryonal rhabdomyosarcoma	An embryonal rhabdomyosarcoma located in the parameningeal region.	mondoexuq1wtf						Editor note: check subclasses, does not appear to be complete						DOID:0060338																		owl:Class
MONDO:0009993	biolink:NamedThing	embryonal rhabdomyosarcoma	A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.	mondoexuq1wtf	rhabdomyosarcoma 1|rhabdomyosarcoma embryonal|rhabdomyosarcoma, embryonal, type 1|rhabdomyosarcoma, embryonal, 1|spindle cell rhabdomyosarcomas (type of ERMS)|embryonal rhabdomyosarcoma|ERMS|botryoid rhabdomyosarcoma (type of ERMS)|rhabdomyosarcoma chromosomal region|RMSE1|embryonal rhabdomyosarcoma (disease)		embryonal rhabdomyosarcoma (disease)									ONCOTREE:ERMS|EFO:0000437|Orphanet:99757|ICD9:171.9|DOID:3246|MedDRA:10065868|GARD:0004702|ICDO:8910/3|HP:0006743|OMIM:268210|SCTID:404051002|ICD10:C49.9|NCIT:C8971|UMLS:C0206656																		owl:Class
MONDO:0008299	biolink:NamedThing	posterior column ataxia		mondoexuq1wtf	Biemond ataxia|posterior column ataxia											MESH:C536342|OMIM:176250|GARD:0010044|UMLS:C1867923														https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia				owl:Class
MONDO:0009507	biolink:NamedThing	Lambert syndrome	Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	mondoexuq1wtf	branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia|branchial dysplasia-intellectual disability-inguinal hernia syndrome|branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome											SCTID:732961003|GARD:0003169|Orphanet:1296|OMIM:245550|MESH:C538396|ICD10:Q87.8|UMLS:C1855551														https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome				owl:Class
MONDO:0015495	biolink:NamedThing	otomandibular dysplasia associated with monogenic syndromes		mondoexuq1wtf												UMLS:CN199632|Orphanet:156202																		owl:Class
MONDO:0011792	biolink:NamedThing	thyroid dyshormonogenesis 6	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.	mondoexuq1wtf	thyroid dyshormonogenesis type 6|hypothyroidism, congenital, due to dyshormonogenesis, 6|thyroid hormonogenesis, genetic defect in, 6|TDH6|familial thyroid dyshormonogenesis caused by mutation in DUOX2|DUOX2 familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 6											OMIM:607200|MESH:C564608|UMLS:C1846632																		owl:Class
MONDO:0045046	biolink:NamedThing	inherited thyroid metabolism disease	An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.	mondoexuq1wtf	rare inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism|inborn thyroid hormone metabolic process disorder|inborn error of thyroid hormone metabolic process											ICD9:246.8|SCTID:36985004|UMLS:C0271824																		owl:Class
MONDO:0020726	biolink:NamedThing	tubulointerstitial kidney disease, autosomal dominant, 2	An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.	mondoexuq1wtf	polycystic kidneys, medullary type|autosomal dominant medullary cystic kidney disease without hyperuricemia|ADTKD-MUC1|MUC1-related autosomal dominant tubulointerstitial kidney disease|MCKD1|MUC1-related autosomal dominant medullary cystic kidney disease|Mckd|medullary cystic kidney disease 1|medullary cystic kidney disease type 1|ADMCKD1|medullary cystic kidney disease, autosomal dominant|MUCI-related ADTKD|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1											OMIM:174000|GARD:0007002|UMLS:C1868139|Orphanet:88949|ICD10:Q61.5|UMLS:CN206321|NCIT:C123171														https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations				owl:Class
MONDO:0022775	biolink:NamedThing	cleft lip and palate malrotation cardiopathy		mondoexuq1wtf												GARD:0001371														https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy				owl:Class
MONDO:0005983	biolink:NamedThing	tinea favosa	A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.	mondoexuq1wtf	favus											EFO:0007511|DOID:4336|UMLS:C0040254|NCIT:C35072|MESH:D014007|ICD10:B35|SCTID:85375000																		owl:Class
MONDO:0010835	biolink:NamedThing	pterygium colli-intellectual disability-digital anomalies syndrome	Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	mondoexuq1wtf	khalifa-Graham syndrome|pterygium colli mental retardation digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies|pterygium colli and mental retardation with facial and digital anomalies|pterygium colli intellectual disability digital anomalies											MESH:C535831|UMLS:C1838562|SCTID:719256004|Orphanet:2988|GARD:0004568|ICD10:Q87.0|OMIM:600159																		owl:Class
MONDO:0020718	biolink:NamedThing	congenital short bowel syndrome 1		mondoexuq1wtf	congenital short bowel syndrome|CSBS											OMIM:615237|UMLS:C0021847																		owl:Class
MONDO:0001976	biolink:NamedThing	chorea gravidarum	A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)	mondoexuq1wtf												DOID:14483|UMLS:C0264746|SCTID:25113000|ICD9:646.80|EFO:1001290|MESH:D020150																		owl:Class
MONDO:0017446	biolink:NamedThing	apodia		mondoexuq1wtf	congenital absence of foot											ICD10:Q72.3|Orphanet:294986|SCTID:371197005																		owl:Class
MONDO:0017421	biolink:NamedThing	non-syndromic terminal limb defects		mondoexuq1wtf	terminal meromelia|terminal limb defects|nonsyndromic terminal limb defects|isolated terminal limb defects											Orphanet:294929																		owl:Class
MONDO:0018564	biolink:NamedThing	3p25.3 microdeletion syndrome	3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	mondoexuq1wtf	monosomy 3p25.3|intellectual disability-epilepsy-stereotypic hand movement syndrome|Del(3)p(25.3)											ICD10:Q93.5|UMLS:CN237571|Orphanet:435638																		owl:Class
MONDO:0021699	biolink:NamedThing	alcohol-induced disorders	Disorders stemming from the misuse and abuse of alcohol.	mondoexuq1wtf	alcohol induced disorders|alcohol-induced disorder											UMLS:C0236970|MESH:D020751|SCTID:719848005																		owl:Class
MONDO:0019227	biolink:NamedThing	inborn disorder of glycerol metabolism	An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process.	mondoexuq1wtf	inborn glycerol metabolic process disorder|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process|disorder of glycerol metabolism											Orphanet:79179																		owl:Class
MONDO:0010482	biolink:NamedThing	X-linked parkinsonism-spasticity syndrome	X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.	mondoexuq1wtf	XPDS|PARKINSONISM with spasticity, X-linked											ICD10:G20|Orphanet:363654|OMIM:300911|UMLS:C3806722																		owl:Class
MONDO:0007155	biolink:NamedThing	arteritis, familial granulomatous, with juvenile polyarthritis		mondoexuq1wtf	arteritis, familial granulomatous, with juvenile polyarthritis											UMLS:C1862510|MESH:C566253|OMIM:108050																		owl:Class
MONDO:0003271	biolink:NamedThing	iodine hypothyroidism		mondoexuq1wtf												SCTID:190279008|UMLS:C0154159|COHD:140062|ICD9:244.2|DOID:5083																		owl:Class
MONDO:0013694	biolink:NamedThing	intellectual disability, autosomal recessive 31		mondoexuq1wtf	intellectual disability, autosomal recessive 31|mental retardation, autosomal recessive 31|MRT31											OMIM:614329|UMLS:C3280523																		owl:Class
MONDO:0017315	biolink:NamedThing	short stature-webbed neck-heart disease syndrome	Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.	mondoexuq1wtf	short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|Al Gazali Aziz Salem syndrome|Al Gazali-Aziz-Salem syndrome|short stature, webbed neck, heart disease											SCTID:721073008|Orphanet:2865|MESH:C535613|ICD10:Q87.8|UMLS:C2930950|GARD:0000583																		owl:Class
MONDO:0013153	biolink:NamedThing	inflammatory bowel disease 28	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.	mondoexuq1wtf	inflammatory bowel disease caused by mutation in IL10RA|inflammatory bowel disease type 28|inflammatory bowel disease, early-onset, autosomal recessive|IL10RA inflammatory bowel disease|inflammatory bowel disease 28, autosomal recessive|early onset autosomal recessive inflammatory bowel disease 28|IBD28											UMLS:C2751053|MESH:C567728|OMIM:613148|DOID:0110899																		owl:Class
MONDO:0016542	biolink:NamedThing	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	mondoexuq1wtf	autosomal recessive early-onset IBD|autosomal recessive early-onset inflammatory bowel disease|IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease											GARD:0013016|ICD10:K52.8|Orphanet:238569|UMLS:CN201623																		owl:Class
MONDO:0013036	biolink:NamedThing	Zechi-Ceide syndrome		mondoexuq1wtf	occipital atretic cephalocele, unusual facies, and large feet|Zechi-Ceide syndrome|occipital atretic cephalocele-unusual facies-large feet syndrome|occipital atretic cephalocele, unusual facies and large feet|Zechi Ceide syndrome											OMIM:612916|ICD10:Q87.8|UMLS:C2752047|MESH:C567865|Orphanet:217017|GARD:0010582														https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome				owl:Class
MONDO:0021642	biolink:NamedThing	vulval varices	A varicose disease that involves the mammalian vulva.	mondoexuq1wtf	varicose disease of mammalian vulva|mammalian vulva varicose disease											UMLS:C0155796|ICD9:456.6|SCTID:48868008|ICD10:I86.3|HP:0100677																		owl:Class
MONDO:0004667	biolink:NamedThing	sublingual gland cancer	A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.	mondoexuq1wtf	malignant sublingual gland neoplasm|malignant tumor of the sublingual gland|malignant neoplasm of sublingual gland|malignant neoplasm of the sublingual gland|malignant tumor of sublingual gland|sublingual gland cancer|malignant sublingual gland tumor|cancer of sublingual gland											UMLS:C0153361|ICD9:142.2|NCIT:C3527|ICD10:C08.1|SCTID:363381003|DOID:8849																		owl:Class
MONDO:0021242	biolink:NamedThing	sublingual gland neoplasm	A neoplasm (disease) that involves the sublingual gland.	mondoexuq1wtf	sublingual gland neoplasm (disease)|neoplasm of sublingual gland|tumor of sublingual gland|tumor of the sublingual gland|sublingual gland tumor|neoplasm of the sublingual gland											NCIT:C3392|SCTID:126790004|MESH:D013362|EFO:1001430|UMLS:C0038554																		owl:Class
MONDO:0015016	biolink:NamedThing	anterior segment dysgenesis 6		mondoexuq1wtf	anterior segment dysgenesis type 6|anterior segment dysgenesis 6|ASGD6											UMLS:C4310623|OMIM:617315|DOID:0080611																		owl:Class
MONDO:0001417	biolink:NamedThing	tracheal lymphoma	A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.	mondoexuq1wtf	lymphoma of trachea|lymphoma of the trachea|trachea lymphoma|tracheal lymphoma|primary tracheal lymphoma											UMLS:C1336773|NCIT:C6248|DOID:12001																		owl:Class
MONDO:0010957	biolink:NamedThing	agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations		mondoexuq1wtf	KENNERKNECHT syndrome|Kennerknecht syndrome|agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations											UMLS:C1833162|OMIM:600908																		owl:Class
MONDO:0007148	biolink:NamedThing	appendicitis, proneness to		mondoexuq1wtf	appendicitis, susceptibility|appendicitis, proneness to											OMIM:107700																		owl:Class
MONDO:0018898	biolink:NamedThing	primary cutaneous lymphoma	Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.	mondoexuq1wtf	primary cutaneous lymphoma|cutaneous (skin) lymphoma|primary skin lymphoma											MedDRA:10051708|UMLS:C1302772|Orphanet:542|SCTID:400001003|NCIT:C7162																		owl:Class
MONDO:0011108	biolink:NamedThing	Stüve-Wiedemann syndrome	Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.	mondoexuq1wtf	neonatal Schwartz-Jampel syndrome|Schwartz-Jampel syndrome, type 2|Stüve-Wiedemann dysplasia|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|Stws|Schwartz-Jampel syndrome, neonatal|Stüve-Wiedemann syndrome|neonatal Schwartz-Jampel syndrome type 2|Schwartz-Jampel syndrome type 2|STUVE-Wiedemann syndrome|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|SJS2|Schwartz-Jampel syndrome neonatal											UMLS:C0796176|OMIM:601559|MESH:C537502|Orphanet:3206|GARD:0005045|UMLS:C0432240|SCTID:254097005|ICD10:Q78.8																		owl:Class
MONDO:0024658	biolink:NamedThing	extrahepatic bile duct sarcoma	A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	mondoexuq1wtf	sarcoma of the extrahepatic bile duct|sarcoma of extrahepatic bile duct|extrahepatic bile duct sarcoma											NCIT:C5029|UMLS:C2205442																		owl:Class
MONDO:0021114	biolink:NamedThing	Bartholin gland neoplasm	A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	mondoexuq1wtf	Bartholin's gland tumor|tumor of major vestibular gland|Bartholin gland neoplasm|Bartholin's gland neoplasm|major vestibular gland tumor|neoplasm of the Bartholin's gland|tumor of Bartholin's gland|neoplasm of major vestibular gland|major vestibular gland neoplasm (disease)|tumor of the Bartholin's gland|major vestibular gland neoplasm|neoplasm of Bartholin's gland											NCIT:C6434																		owl:Class
MONDO:0013664	biolink:NamedThing	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency		mondoexuq1wtf	SRXY8|46,XY sex reversal type 8|male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46,XY sex reversal 8											DOID:0111773|OMIM:614279|ICD10:E29.1|UMLS:C1839840|MESH:C564109|Orphanet:443087|SCTID:49013001																		owl:Class
MONDO:0008975	biolink:NamedThing	otospondylomegaepiphyseal dysplasia	An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.	mondoexuq1wtf	Nance-Insley syndrome|chondrodystrophy with sensorineural deafness|OSMED|OSMED syndrome|Nance Sweeney chondrodysplasia|otospondylmegaepiphyseal dysplasia|Insley-Astley syndrome|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia											DOID:0080026|OMIMPS:184840|SCTID:254060000|ICD10:Q77.7|Orphanet:1427|ICD9:759.89|GARD:0004130																		owl:Class
MONDO:0008359	biolink:NamedThing	radio-renal syndrome	Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	radio renal syndrome|radial-renal syndrome											SCTID:766765009|MESH:C536267|UMLS:C2931146|Orphanet:3015|OMIM:179280|GARD:0000224														https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome				owl:Class
MONDO:0020856	biolink:NamedThing	bone marrow failure syndrome 4		mondoexuq1wtf	BONE MARROW FAILURE SYNDROME 4|BMFS4											OMIM:618116																		owl:Class
MONDO:0003243	biolink:NamedThing	hepatocellular clear cell carcinoma	A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.	mondoexuq1wtf	clear cell carcinoma of liver cells|liver cell clear cell carcinoma|hepatocellular clear cell carcinoma|clear cell hepatocellular cancer|clear cell hepatocellular carcinoma|clear cell carcinoma of the liver cells											ICDO:8174/3|NCIT:C5754|DOID:5016|UMLS:C1333067																		owl:Class
MONDO:0017376	biolink:NamedThing	reactive arthritis	Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.	mondoexuq1wtf	postdysenteric arthropathy|post-bacterial arthropathy|polyarthritis enterica|Fiessinger-Leroy-Reiter syndrome|post-infectious arthritis|venereal arthritis|Fiessinger-Leroy disease|Reiter syndrome|PIRA|arthritis urethritica|Reiter's disease|reactive arthritis|Reiter's syndrome|Reiter disease|Fiessinger Leroy Reiter syndrome|post-infectious reactive arthropathy											Orphanet:29207|MedDRA:10003267|ICD10:M02.8|COHD:78357|EFO:0007460|NCIT:C128332|MESH:D016918|ICD9:711.40|ICD9:711.3|ICD10:M02.10|UMLS:C0085435|GARD:0005693|UMLS:C0035012|UMLS:CN203069|SCTID:129133005|ICD9:099.3|ICD10:M02.1|MedDRA:10038294|ICD9:711.30|ICD10:M02.30|ICD10:M02.3|DOID:6196														https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis				owl:Class
MONDO:0018857	biolink:NamedThing	creeping myiasis		mondoexuq1wtf	migratory myiasis											UMLS:C1562462|Orphanet:504|SCTID:417441005|MedDRA:10059547|ICD10:B87.0|GARD:0001609														https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis				owl:Class
MONDO:0020568	biolink:NamedThing	cutaneous myiasis		mondoexuq1wtf												Orphanet:99983|UMLS:C0027031|SCTID:240877000|ICD10:B87.0																		owl:Class
MONDO:0003759	biolink:NamedThing	childhood ovarian yolk sac tumor	A yolk sac tumor that arises from the ovary and occurs in children.	mondoexuq1wtf	childhood ovarian endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|pediatric ovarian yolk Sac tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac neoplasm|childhood ovarian yolk sac tumor|pediatric ovarian endodermal sinus tumor|ovary childhood endodermal sinus tumor|pediatric ovarian endodermal sinus neoplasm											NCIT:C6551|DOID:6083|UMLS:C1332993																		owl:Class
MONDO:0003400	biolink:NamedThing	childhood endodermal sinus tumor	A yolk sac tumor that occurs during childhood.	mondoexuq1wtf	childhood yolk Sac neoplasm|pediatric yolk Sac neoplasm|childhood endodermal sinus neoplasm|pediatric endodermal sinus neoplasm|childhood yolk Sac tumor|childhood endodermal sinus tumor|pediatric yolk Sac tumor											NCIT:C27364|UMLS:C1333016|DOID:5342																		owl:Class
MONDO:0024228	biolink:NamedThing	miliaria profunda	A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.	mondoexuq1wtf												DOID:0070320|SCTID:47317002																		owl:Class
MONDO:0006580	biolink:NamedThing	miliaria	A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.	mondoexuq1wtf	prickly heat|heat rash											MESH:D008883|Wikipedia:Miliaria|ICD10:L74.3|NCIT:C34820|EFO:1000734|DOID:1382|UMLS:C0026113|SCTID:63951004																		owl:Class
MONDO:0100370	biolink:NamedThing	acute hepatitis B virus infection	A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.	mondoexuq1wtf	acute hepatitis B							http://orcid.org/0000-0001-5208-3432				NCIT:C157781																		owl:Class
MONDO:0001704	biolink:NamedThing	vaginal glandular neoplasm	A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.	mondoexuq1wtf	vaginal glandular neoplasm|vaginal glandular tumor|vagina glandular cell neoplasm											DOID:134|UMLS:C1519921|NCIT:C40250																		owl:Class
MONDO:0008029	biolink:NamedThing	Bethlem myopathy	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.	mondoexuq1wtf	Bethlem myopathy type 1|Bethlem myopathy 1|benign autosomal dominant myopathy|benign congenital muscular dystrophy|BTHLM1					Editor note: consider separating type 1 form						UMLS:C1834674|SCTID:718572004|OMIMPS:158810|GARD:0000873|DOID:0050663|NCIT:C126688|Orphanet:610|MESH:C535436|ICD10:G71.0																		owl:Class
MONDO:0054754	biolink:NamedThing	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		mondoexuq1wtf	encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8|Herpes simplex encephalitis, Susceptibility to, 6|IIAE8											UMLS:CN865669|OMIM:617900																		owl:Class
MONDO:0009974	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis type 1	Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.	mondoexuq1wtf	FHL1|hemophagocytic reticulosis, familial|Erythrophagocytic lymphohistiocytosis, familial|hemophagocytic lymphohistiocytosis, familial|familial hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis 1|HLH1|reticulosis, familial histiocytic|familial hemophagocytic lymphohistiocytosis type 1|Hplh1|HPLH1|Hlh1|hemophagocytic lymphohistiocytosis, familial, 1|familial HLH					Editor note: type 1 split out						NCIT:C61276|UMLS:CN034020|UMLS:CN205265|DOID:0110921|OMIM:267700|UMLS:C0272199|MedDRA:10070904|ICD10:D76.1																		owl:Class
MONDO:0015737	biolink:NamedThing	typical nemaline myopathy	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.	mondoexuq1wtf	typical congenital nemaline myopathy											ICD10:G71.2|Orphanet:171436|GARD:0012822																		owl:Class
MONDO:0021952	biolink:NamedThing	autoimmune progesterone dermatitis	Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.	mondoexuq1wtf	autoimmune progesterone urticaria|autoimmune progesterone dermatitis|APD|autoimmune progesterone dermatitis/urticaria|progesterone dermatitis											GARD:0009139|MESH:C535299|ICD9:708.8|UMLS:C1260879|SCTID:400009001														https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis				owl:Class
MONDO:0018357	biolink:NamedThing	neonatal antiphospholipid syndrome		mondoexuq1wtf	neonatal antiphospholipid antibody syndrome|neonatal Hughes syndrome											ICD10:D68.6|Orphanet:398097|UMLS:CN226098																		owl:Class
MONDO:0001066	biolink:NamedThing	late yaws	Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.	mondoexuq1wtf	multiple papillomata due to yaws and wet crab yaws|gummata of yaws|yaws gummata and ulcers|ulcers of yaws|gummatous frambeside|gummata and ulcers due to yaws|nodular late yaws											NCIT:C41354|UMLS:C1517744|ICD10:A66.4|SCTID:186968004|ICD9:102.1|ICD10:A66.1|DOID:10567|UMLS:C0276007|ICD9:102.4																		owl:Class
MONDO:0006718	biolink:NamedThing	cutaneous syphilis	Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)	mondoexuq1wtf	Treponema pallidum skin disease caused by bacterial infection|Treponema pallidum caused skin disease caused by bacterial infection											ICD10:A50.06|MESH:D013591|EFO:1000887																		owl:Class
MONDO:0015739	biolink:NamedThing	adult-onset nemaline myopathy	Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.	mondoexuq1wtf												Orphanet:171442|GARD:0012824|ICD10:G71.2|UMLS:C0546123														https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy				owl:Class
MONDO:0018958	biolink:NamedThing	nemaline myopathy	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.	mondoexuq1wtf	nemaline rod disease|Rod-body myopathy|NEM|congenital rod disease|nemaline rod myopathy|rod myopathy|nemaline body disease|NM|Rod body disease											MESH:D017696|OMIMPS:161800|SCTID:75072002|UMLS:C0206157|ICD10:G71.2|DOID:3191|Orphanet:607|GARD:0012033																		owl:Class
MONDO:0010237	biolink:NamedThing	X-linked intellectual disability-plagiocephaly syndrome	X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.	mondoexuq1wtf	intellectual disability, X-linked, with craniofacial dysmorphism|plagiocephaly and X-linked mental retardation|Hyde Forster-McCarthy-Berry syndrome|Hyde Forster McCarthy Berry syndrome|mental retardation, X-linked Hyde-Forster type|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|plagiocephaly and X-linked intellectual disability|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|mental retardation, X-linked, Hyde-Forster type|intellectual disability, X-linked Hyde-Forster type|intellectual disability, X-linked, Hyde-Forster type|mental retardation, X-linked, with craniofacial dysmorphism											SCTID:719812008|MESH:C537512|Orphanet:2898|OMIM:300064|ICD10:Q87.0|GARD:0004377|UMLS:C2931516|GARD:0002765																		owl:Class
MONDO:0008674	biolink:NamedThing	WHIM syndrome	WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).	mondoexuq1wtf	Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis|WILM|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|WHIM syndrome|Warts-infections-leukopenia-myelokatexis syndrome|WHIMS											UMLS:C0472817|OMIM:193670|Orphanet:51636|ICD10:D81.8|SCTID:234571003|MESH:C536697|GARD:0009297|DOID:0060591														https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome				owl:Class
MONDO:0014163	biolink:NamedThing	left ventricular noncompaction 10	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.	mondoexuq1wtf	MYBPC3 left ventricular noncompaction|LVNC10|cardiomyopathy, dilated, 1Mm|left ventricular noncompaction type 10|left ventricular noncompaction 10|left ventricular noncompaction caused by mutation in MYBPC3											OMIM:615396|UMLS:C3715165																		owl:Class
MONDO:0018901	biolink:NamedThing	left ventricular noncompaction	Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.	mondoexuq1wtf	LVNC|Lv non-compaction syndrome|left ventricular non-compaction syndrome|spongy myocardium|left ventricular noncompaction (disease)|left ventricular non-compaction cardiomyopathy|left ventricular hypertrabeculation		left ventricular noncompaction (disease)									ICD10:I42.8|GARD:0010985|DOID:0060480|OMIMPS:604169|Orphanet:54260|UMLS:C4021133|NCIT:C99544|UMLS:C1960469														https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction				owl:Class
MONDO:0007864	biolink:NamedThing	angioosteohypertrophic syndrome	Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	mondoexuq1wtf	Ktw syndrome|angio-osteohypertrophy syndrome|Klippel-Trenaunay syndrome|angioosteohypertrophy syndrome|Klippel-Trenaunay-Weber syndrome|Klippel-Trénaunay syndrome|KTS|Klippel-Trénaunay-Weber syndrome|Weber-Klippel-Trenaunay|Klippel Trenaunay syndrome|haemangiectatic hypertrophy											GARD:0003122|SCTID:721105004|OMIM:149000|UMLS:C0022739|Orphanet:2346|DOID:2926|MedDRA:10051452|EFO:0007334|MESH:D007715|ICD10:Q87.2|NCIT:C84801|UMLS:CN201567														https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome				owl:Class
MONDO:0006944	biolink:NamedThing	renal aminoaciduria	A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.	mondoexuq1wtf												MESH:D000608|SCTID:35912001|MedDRA:10001939|EFO:1001149																		owl:Class
MONDO:0016146	biolink:NamedThing	caveolinopathy	A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals	mondoexuq1wtf	qualitative or quantitative defects of caveolin-3											Orphanet:207078|UMLS:CN043575																		owl:Class
MONDO:0008302	biolink:NamedThing	centra precocious puberty 1	Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.	mondoexuq1wtf	precocious puberty, central, type 1|precocious puberty, central, 1|KISS1R central precocious puberty|CPPB1|central precocious puberty caused by mutation in KISS1R											UMLS:C3805879|OMIM:176400																		owl:Class
MONDO:0021638	biolink:NamedThing	low grade astrocytic tumor	A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).	mondoexuq1wtf	low grade astrocytic tumor|low-grade astrocytic neoplasm|low grade astrocytic neoplasm|low-grade astrocytic tumor											UMLS:C3898569|NCIT:C116342																		owl:Class
MONDO:0004528	biolink:NamedThing	lymph node palisaded myofibroblastoma	A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.	mondoexuq1wtf	palisaded myofibroblastoma of the lymph node|palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of lymph node											DOID:8304|NCIT:C6584|UMLS:C1335295																		owl:Class
MONDO:0011141	biolink:NamedThing	folate level in erythrocytes		mondoexuq1wtf	folate level in erythrocytes											OMIM:601775																		owl:Class
MONDO:0013977	biolink:NamedThing	combined oxidative phosphorylation defect type 13	Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.	mondoexuq1wtf	combined oxidative phosphorylation deficiency type 13|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|combined oxidative phosphorylation deficiency 13|PNPT1 combined oxidative phosphorylation deficiency|COXPD13											SCTID:763110007|Orphanet:319514|OMIM:614932|UMLS:C3554129|ICD10:G71.3|DOID:0111467																		owl:Class
MONDO:0011411	biolink:NamedThing	Chudley-McCullough syndrome		mondoexuq1wtf	deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction|deafness, autosomal recessive 82|CMCS|deafness, autosomal recessive 82, formerly|Chudley-McCullough syndrome|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts											UMLS:C1858695|MESH:C535459|Orphanet:314597|OMIM:604213|GARD:0000086																		owl:Class
MONDO:0019104	biolink:NamedThing	Sandifer syndrome	Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.	mondoexuq1wtf	Sandifer's syndrome											MedDRA:10066142|Orphanet:71272|GARD:0009684|MESH:C537234|SCTID:230314007|NCIT:C113397|UMLS:C0338465														https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome				owl:Class
MONDO:0014668	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.	mondoexuq1wtf	fatal infantile encephalocardiomyopathy caused by mutation in COA6|COA6 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4|CEMCOX4|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4											OMIM:616501|DOID:0080360|UMLS:C4225304																		owl:Class
MONDO:0011246	biolink:NamedThing	megaconial type congenital muscular dystrophy		mondoexuq1wtf	muscular dystrophy, congenital, with mitochondrial structural abnormalities|MDCMC|muscular dystrophy, congenital, megaconial type|megaconial congenital muscular dystrophy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|megaconial congénital muscular dystrophy|congenital megaconial myopathy|congenital muscular dystrophy with mitochondrial structural abnormalities											UMLS:C1865233|OMIM:602541|MESH:C566527|GARD:0010317|DOID:0110632|ICD10:G71.2|Orphanet:280671														https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type				owl:Class
MONDO:0018120	biolink:NamedThing	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement		mondoexuq1wtf												UMLS:CN227267|Orphanet:352312																		owl:Class
MONDO:0014883	biolink:NamedThing	hypertrophic cardiomyopathy 26	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 26|hypertrophic cardiomyopathy caused by mutation in FLNC|cardiomyopathy, familial restrictive, 5|CMH26|FLNC hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 26|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy type 26											UMLS:C4310749|OMIM:617047|DOID:0110327																		owl:Class
MONDO:0012951	biolink:NamedThing	colorectal cancer, susceptibility to, 8		mondoexuq1wtf	CRCS8|colorectal cancer, susceptibility to, on chromosome 14Q|colorectal cancer, susceptibility to, 8											OMIM:612589																		owl:Class
MONDO:0005575	biolink:NamedThing	colorectal cancer	A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant colorectum neoplasm|CRC|malignant tumor of the large bowel|colon cancer|colorectal cancer|malignant tumor of large intestine|cancer of the large bowel|malignant neoplasm of the large intestine|malignant large intestine neoplasm|malignant neoplasm of the large bowel|malignant neoplasm of colorectum|malignant large bowel tumor|malignant neoplasm of large intestine|malignant large bowel neoplasm|malignant colorectal tumor|cancer of colorectum|large intestine cancer|malignant tumor of the large intestine|cancer of large bowel|colorectum cancer|malignant tumor of large bowel|malignant neoplasm of large bowel|cancer of large intestine|malignant colorectal neoplasm|malignant large intestine tumor					Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent					MONDO:0003576|MONDO:0021307	KEGG:05210|UMLS:C1527249|OMIM:114500|SCTID:363510005|NCIT:C4978|ICD10:C18.9|EFO:0005842|DOID:9256|DOID:5672																		owl:Class
MONDO:0009934	biolink:NamedThing	alveolar capillary dysplasia with misalignment of pulmonary veins	A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.	mondoexuq1wtf	alveolar capillary dysplasia|alveolar capillary dysplasia with pulmonary venous misalignment|familial persistent pulmonary hypertension of the newborn|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|pulmonary hypertension, familial persistent of the newborn|persistent fetal circulation|alveolar capillary dysplasia with misalignment of pulmonary veins|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary vessels|ACDMPV|fetal circulation|congenital alveolar capillary dysplasia|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies					Editor note: MESH and NCIT split this, see NCIT:C98809						ICD9:747.83|OMIM:265380|MESH:D010547|Orphanet:210122|UMLS:C0031190|EFO:1001103|SCTID:447275002|ICD10:P29.3|DOID:13042|NCIT:C98809|MESH:C536590|COHD:197970|ICD9:747.49|MedDRA:10054726|GARD:0008644														https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia				owl:Class
MONDO:0004230	biolink:NamedThing	adenomatoid tumor	A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.	mondoexuq1wtf	benign neoplasm of mesothelium|benign mesothelioma|benign tumor of the mesothelium|benign mesothelial tumor|adenomatoid tumor NOS (morphologic abnormality)|benign mesothelial neoplasm|adenomatoid tumor, benign|benign localized epithelial mesothelioma|benign neoplasm of the mesothelium|adenomatoid tumor|mesothelioma, benign|adenomatoid tumor (morphologic abnormality)|benign tumor of mesothelium											MESH:D018254|ICDO:9050/0|DOID:746|ICD10:D19.9|NCIT:C3762|UMLS:C0206675|ICDO:9052/0|ICDO:9054/0																		owl:Class
MONDO:0005065	biolink:NamedThing	mesothelioma	A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.	mondoexuq1wtf	mesothelioma											ICD10:C45|NCIT:C3234|UMLS:C0025500|EFO:0000588|MESH:D008654																		owl:Class
MONDO:0016527	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase deficiency		mondoexuq1wtf	glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|LDH deficiency|lactate dehydrogenase deficiency											MESH:C580233|ICD10:E74.4|GARD:0003159|Orphanet:2364																		owl:Class
MONDO:0000624	biolink:NamedThing	benign female reproductive system neoplasm	A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.	mondoexuq1wtf	benign female reproductive system tumor|benign female reproductive system neoplasm|benign gynecologic tumor|female reproductive organ benign neoplasm|benign gynecologic neoplasm											UMLS:C0744514|NCIT:C4934|DOID:0060086																		owl:Class
MONDO:0005177	biolink:NamedThing	serous cystadenoma	A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.	mondoexuq1wtf	serous cystadenoma|serous cystoma											NCIT:C3783|ICDO:8441/0|EFO:0002504																		owl:Class
MONDO:0014557	biolink:NamedThing	ataxia - oculomotor apraxia type 4	Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.	mondoexuq1wtf	AOA4|PNKP oculomotor apraxia or related oculomotor disease|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP|ataxia-oculomotor apraxia-4|ataxia-oculomotor apraxia 4|ataxia - oculomotor apraxia type 4											EFO:0009016|OMIM:616267|Orphanet:459033|UMLS:C4225397|GARD:0013111														https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4				owl:Class
MONDO:0002937	biolink:NamedThing	nodular basal cell carcinoma	A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.	mondoexuq1wtf	skin nodulo-ulcerative basal cell carcinoma|Nodulo-ulcerative basal cell carcinoma|basal cell carcinoma, nodular|circumscribed solid basal cell carcinoma|basal cell carcinoma, nodular (morphologic abnormality)|skin solid (nodular) basal cell carcinoma|Rodent Ulcer											SCTID:403910009|NCIT:C5568|UMLS:C1304300|DOID:4280																		owl:Class
MONDO:0014156	biolink:NamedThing	atrial fibrillation, familial, 14	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.	mondoexuq1wtf	atrial fibrillation, familial, type 14|atrial fibrillation, familial, 14|SCN2B familial atrial fibrillation|ATFB14|familial atrial fibrillation caused by mutation in SCN2B											OMIM:615378|UMLS:C3809312																		owl:Class
MONDO:0012474	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 4	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.	mondoexuq1wtf	autosomal dominant nocturnal frontal lobe epilepsy type 4|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|convulsions, benign familial infantile, 6|epilepsy, nocturnal frontal lobe, 4|epilepsy, nocturnal frontal lobe, type 4|ENFL4|seizures, benign familial infantile, 6|nocturnal frontal lobe epilepsy 4|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|epilepsy, familial, with nocturnal wandering and Ictal fear											DOID:0060685|UMLS:C1835905|OMIM:610353|MESH:C563679																		owl:Class
MONDO:0013662	biolink:NamedThing	Barrett esophagus	Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)	mondoexuq1wtf	CLE|columnar epithelial-lined Lower esophagus|ulcerative esophagitis|Barrett's oesophagus|adenocarcinoma of esophagus|Barrett metaplasia|Barrett's esophagus with esophagitis|Barrett esophagus|BE|cello|Barrett's esophagus|columnar-lined esophagus|Barrett's ulcer of esophagus|Barretts syndrome											NCIT:C2891|ICD10:K22.70|COHD:443344|ICD10:K22.7|SCTID:196609006|EFO:0000280|ICD9:530.85|OMIM:614266|DOID:9206|MESH:D001471																		owl:Class
MONDO:0032936	biolink:NamedThing	myopathy, congenital, with respiratory insufficiency and bone fractures		mondoexuq1wtf	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES|MYORIBF											OMIM:618822																		owl:Class
MONDO:0016184	biolink:NamedThing	qualitative or quantitative defects of protein O-mannosyltransferase 1		mondoexuq1wtf	qualitative or quantitative defects of protein O-mannosyltransferase type 1											Orphanet:209030																		owl:Class
MONDO:0011369	biolink:NamedThing	hypercholesterolemia, autosomal dominant, 3	Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.	mondoexuq1wtf	low density lipoprotein cholesterol level quantitative trait locus 1|HCHOLA3|hypercholesterolemia, autosomal dominant, 3|PCSK9 familial hypercholesterolemia|familial hypercholesterolemia caused by mutation in PCSK9|hypercholesterolemia, autosomal dominant, type 3|Fh3											OMIM:603776|MESH:C566337|UMLS:C1863551																		owl:Class
MONDO:0001644	biolink:NamedThing	acute proliferative glomerulonephritis	Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.	mondoexuq1wtf	acute glomerulonephritis with lesion of proliferative glomerulonephritis|post-streptococcal glomerulonephritis|proliferative glomerulonephritis, acute											SCTID:197579006|ICD9:580.0|COHD:259070|UMLS:C0341692|NCIT:C35443|DOID:13138																		owl:Class
MONDO:0007638	biolink:NamedThing	fucosidase regulator		mondoexuq1wtf	fucosidase regulator|Alpha-L-fucosidase regulator											OMIM:136830																		owl:Class
MONDO:0100278	biolink:NamedThing	alanine glyoxylate aminotransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.	mondoexuq1wtf	alanine glyoxylate aminotransferase deficiency|AGXT defect|AGXT deficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0017703	biolink:NamedThing	disorder of glyoxylate metabolism		mondoexuq1wtf	disorder of glyoxylate metabolism											UMLS:CN227177|Orphanet:308998														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0005647	biolink:NamedThing	anogenital human papillomavirus infection	A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.	mondoexuq1wtf	anogenital Warts|anogenital Human papilloma Virus infection|genital wart virus infectious disease|anogenital Human papilloma Virus infectious disease|condyloma acuminatum|anogenital venereal wart|anogenital Human Papillomavirus infection|genital Warts|venereal wart											DOID:11168|MESH:D003218|EFO:0007147|ICD10:A63.0|SCTID:266113007|COHD:198075|NCIT:C4820|ICD9:078.11																		owl:Class
MONDO:0021682	biolink:NamedThing	viral sexually transmitted disease	Viral diseases which are potentially transmitted or propagated by sexual conduct.	mondoexuq1wtf	diseases, viral venereal|venereal disease, viral|viral sexually Transmitted diseases|venereal diseases, viral|viral venereal disease|viral venereal diseases|viral sexually transmitted disease|sexually Transmitted disease, viral|disease, viral venereal											UMLS:C0036918|MESH:D015229																		owl:Class
MONDO:0001236	biolink:NamedThing	appendiceal neoplasm	A benign or malignant neoplasm involving the appendix.	mondoexuq1wtf	tumor of appendix|appendix tumor|tumor of vermiform appendix|vermiform appendix neoplasm (disease)|neoplasm of the appendix|vermiform appendix tumor|tumor of the appendix|vermiform appendix neoplasm|appendix neoplasm|neoplasm of appendix|neoplasm of vermiform appendix											MESH:D001063|SCTID:126846004|DOID:11240|NCIT:C4434|UMLS:C0003614|EFO:0003880																		owl:Class
MONDO:0042908	biolink:NamedThing	Schaap-Taylor-Baraitser syndrome		mondoexuq1wtf	cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature|Schaap Taylor Baraitser syndrome											GARD:0000248																		owl:Class
MONDO:0006608	biolink:NamedThing	seborrheic dermatitis	A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.	mondoexuq1wtf	cradle Cap|skin seborrheic|seborrheic eczema|seborrheic dermatitis (disease)|seborrhea|Seborrhoeic eczema|Seborrhoeic dermatitis|seborrheic dermatitis		seborrheic dermatitis (disease)									UMLS:C0036508|MESH:D012628|HP:0001051|DOID:8741|ICD9:690.1|ICD10:L21.9|NCIT:C111888|ICD9:690.10|ICD9:706.3|ICD10:L21|EFO:1000764																		owl:Class
MONDO:0020728	biolink:NamedThing	hypouricemia, renal 1		mondoexuq1wtf	hypouricemia, renal, 1|hypouricemia, renal, type 1|Dalmatian hypouricemia|renal hypouricemia|RHUC1											UMLS:C0473219|OMIM:220150																		owl:Class
MONDO:0019384	biolink:NamedThing	encephalitis lethargica	A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.	mondoexuq1wtf	von Economo disease|von Economo's disease|encephalitis lethargica|epidemic encephalitis|lethargic encephalitis|Von Economo encephalitis|Von Economo’s disease											SCTID:186499007|UMLS:C0014040|MedDRA:10052369|ICD10:A85.8|GARD:0006332|Orphanet:83600|ICD9:049.8|NCIT:C26761|DOID:5225|NCIT:C34576														https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica				owl:Class
MONDO:0017200	biolink:NamedThing	polycystic ovaries-urethral sphincter dysfunction syndrome	Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.	mondoexuq1wtf	voiding dysfunction and polycystic ovaries|fowler Christmas Chapple syndrome|polycystic ovaries urethral sphincter dysfunction|fowler's syndrome|fowler-Christmas-Chapple syndrome											GARD:0002365|MESH:C537271|UMLS:C2931462|Orphanet:2795																		owl:Class
MONDO:0011340	biolink:NamedThing	congenital tracheal stenosis		mondoexuq1wtf	tracheobronchial stenosis, congenital											ICD10:Q32.1|Orphanet:141127|OMIM:603569|GARD:0012008|MESH:C566362|SCTID:9660004|ICD9:748.3														https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis				owl:Class
MONDO:0015505	biolink:NamedThing	tracheal anomaly		mondoexuq1wtf												Orphanet:156252																		owl:Class
MONDO:0000744	biolink:NamedThing	lung abscess	A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.	mondoexuq1wtf	lung abscess (disease)|lung abscess		lung abscess (disease)									NCIT:C99090|EFO:1001362|COHD:257010|UMLS:C0024110|ICD10:J85.2|HP:0025044|DOID:0060317|SCTID:73452002|ICD9:513.0|MESH:D008169																		owl:Class
MONDO:0018353	biolink:NamedThing	refractory celiac disease	Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.	mondoexuq1wtf	type II refractory sprue|refractory CD|refractory sprue|intractable celiac sprue|type I refractory sprue											UMLS:CN226092|ICD10:K90.0|EFO:0009266|Orphanet:398063																		owl:Class
MONDO:0001674	biolink:NamedThing	diverticulitis of colon	Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.	mondoexuq1wtf	colon diverticulitis|colonic diverticular disease											DOID:13254|MESH:D004239|ICD9:562.11|SCTID:111359004|COHD:77025|UMLS:C0012814|ICD9:562.12																		owl:Class
MONDO:0001079	biolink:NamedThing	pancreatic steatorrhea		mondoexuq1wtf	pancreatic steatorrhoea					Editor note: consider obsoleting						DOID:10610|COHD:200146|UMLS:C0152166|ICD10:K90.3|SCTID:54576000|ICD9:579.4																		owl:Class
MONDO:0003993	biolink:NamedThing	childhood vagina botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	mondoexuq1wtf	vaginal childhood sarcoma Botryoides|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina|childhood sarcoma Botryoides of the vagina											DOID:6787|NCIT:C35556|UMLS:C1332945																		owl:Class
MONDO:0003992	biolink:NamedThing	childhood botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	mondoexuq1wtf	botryoid rhabdomyosarcoma of childhood|childhood sarcoma Botryoides|childhood botryoid-type embryonal rhabdomyosarcoma|pediatric botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma											DOID:6786|UMLS:C1332944|NCIT:C35574																		owl:Class
MONDO:0060777	biolink:NamedThing	cervical fibroepithelial polyp	A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.	mondoexuq1wtf	Cervical fibroepithelial polyp|uterine cervix fibroepithelial polyp											UMLS:C1516413|NCIT:C40200																		owl:Class
MONDO:0014293	biolink:NamedThing	autosomal dominant nonsyndromic deafness 58	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.	mondoexuq1wtf	DFNA58|deafness, autosomal dominant 58|autosomal dominant deafness 58|autosomal dominant nonsyndromic deafness type 58											ICD10:H90.3|OMIM:615654|DOID:0110582																		owl:Class
MONDO:0010769	biolink:NamedThing	hairy ears, Y-linked		mondoexuq1wtf	hairy ears, Y-linked|hypertrichosis pinnae auris, Y-linked											MESH:C564029|OMIM:425500|UMLS:C1839070																		owl:Class
MONDO:0000545	biolink:NamedThing	sublingual gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the sublingual gland.	mondoexuq1wtf	sublingual gland adenoid cystic carcinoma											DOID:0050930																		owl:Class
MONDO:0045063	biolink:NamedThing	major salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	mondoexuq1wtf	major salivary gland adenoid cystic carcinoma|major salivary gland adenoid cystic cancer|adenoid cystic carcinoma of major salivary gland|adenoid cystic carcinoma of the major salivary gland											NCIT:C5905|UMLS:C1334548																		owl:Class
MONDO:0005470	biolink:NamedThing	postprandial hypotension	Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.	mondoexuq1wtf												EFO:0005253																		owl:Class
MONDO:0005468	biolink:NamedThing	hypotensive disorder	Blood pressure that is abnormally low.	mondoexuq1wtf	hypotension (disease)|hypotension											SCTID:45007003|HP:0002615|MESH:D007022|ICD9:458.9|ICD9:458.8|ICD9:458|EFO:0005251																		owl:Class
MONDO:0003546	biolink:NamedThing	third cranial nerve disease	A disease involving the oculomotor nerve.	mondoexuq1wtf	oculomotor nerve disease or disorder|disease of oculomotor nerve|oculomotor nerve disease|disorder of oculomotor nerve|disease or disorder of oculomotor nerve|oculomotor nerve disorder											DOID:562|MESH:D015840|NCIT:C27598|SCTID:60750009|UMLS:C0271353																		owl:Class
MONDO:0007319	biolink:NamedThing	chondrocalcinosis 2	A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).	mondoexuq1wtf	calcium pyrophosphate dihydrate crystal deposition disease|familial calcium pyrophosphate deposition|hereditary CC|familial calcium pyrophosphate dihydrate deposition disease|chondrocalcinosis familial articular|familial CC|hereditary calcium pyrophosphate deposition|calcium pyrophosphate arthropathy, familial|calcium pyrophosphate arthropathy|chondrocalcinosis, familial articular|calcium gout|familial CPPD|familial articular chondrocalcinosis|CPPDD|hereditary articular chondrocalcinosis|chondrocalcinosis 2|Pseudogout, familial|calcium gout, familial|CCAL2|calcium pyrophosphate dihydrate deposition disease|chondrocalcinosis type 2											ICD10:M11.1|MESH:C563162|GARD:0001292|UMLS:CN199517|OMIM:118600|Orphanet:1416																		owl:Class
MONDO:0032866	biolink:NamedThing	cortical dysplasia, complex, with other brain malformations 10		mondoexuq1wtf	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10|CDCBM10											OMIM:618677																		owl:Class
MONDO:0006055	biolink:NamedThing	sex cord-stromal tumor	A neoplasm involving a sex cord.	mondoexuq1wtf	tumor of sex cord|sex cord-stromal tumor|neoplasm of sex cord|Sex cord-stromal tumor, no ICD-O subtype|Sex cord-stromal neoplasm|Sex cord-stromal tumor|sex cord tumor|Sex cord stromal tumour|specialized gonadal neoplasm (morphologic abnormality)|sex cord-gonadal stromal tumor|specialized gonadal tumor|specialized gonadal neoplasm|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|malignant testicular sex cord-stromal tumor|sex cord neoplasm|specialized gonadal tumor (qualifier value)|specialized gonadal neoplasm NOS (morphologic abnormality)											UMLS:C0206724|UMLS:C1515289|ICDO:8590/1|NCIT:C3794|EFO:1000052|EFO:0007483|DOID:192																		owl:Class
MONDO:0010511	biolink:NamedThing	vas deferens, congenital bilateral aplasia of, X-linked		mondoexuq1wtf	vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked											UMLS:C4310815|OMIM:300985																		owl:Class
MONDO:0007313	biolink:NamedThing	cheilitis glandularis	Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.	mondoexuq1wtf	cheilitis glandularis											UMLS:C0267034|GARD:0000412|ICD10:K13.0|OMIM:118330|SCTID:26374003|MESH:C535921|Orphanet:1221														https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis				owl:Class
MONDO:0010647	biolink:NamedThing	spermatogenic failure, X-linked, 2	Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.	mondoexuq1wtf	azoospermia caused by mutation in TEX11|spermatogenic failure, X-linked, 2|TEX11 azoospermia|SPGFX2|Male infertility from defect in meiosis|spermatogenic failure, X-linked, type 2											UMLS:C1839841|OMIM:309120|DOID:0070185																		owl:Class
MONDO:0010633	biolink:NamedThing	iris hypoplasia with glaucoma		mondoexuq1wtf	IHG|iris hypoplasia and glaucoma|iris hypoplasia with glaucoma											GARD:0009171|MESH:C535538|UMLS:C1839928|OMIM:308500														https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma				owl:Class
MONDO:0005851	biolink:NamedThing	Miller Fisher syndrome	An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.	mondoexuq1wtf	ophthalmoplegia, ataxia and areflexia syndrome|Miller Fisher variant of Guillain Barre syndrome|Fisher syndrome|Miller-Fisher variant of Guillain-Barre syndrome|Guillain-Barre syndrome, Miller Fisher variant|cranial variant of GBS|syndrome, Miller-Fisher|Miller-Fisher syndrome|Guillain Barre syndrome, Miller Fisher variant|syndrome, Fisher|Fisher's syndrome|cranial variant of Guillain-Barre syndrome|cranial variant of Guillain-Barré syndrome|syndrome, Miller Fisher											DOID:12889|SCTID:1767005|GARD:0003668|MedDRA:10049567|MESH:D019846|EFO:0007371|ICD10:G61.0|Orphanet:98919|UMLS:C0393799|NCIT:C116958																		owl:Class
MONDO:0000568	biolink:NamedThing	autoimmune disease of central nervous system	A hypersensitivity reaction type II disease that involves the central nervous system.	mondoexuq1wtf	central nervous system autoimmune disease|central nervous system hypersensitivity reaction type II disease											DOID:0060004																		owl:Class
MONDO:0001118	biolink:NamedThing	Queensland tick typhus	A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.	mondoexuq1wtf	Australian tick typhus|Rickettsia australis spotted fever|North Queensland tick typhus											ICD9:082.3|SCTID:68981009|UMLS:C2979888|DOID:10784																		owl:Class
MONDO:0022648	biolink:NamedThing	cardiomyopathy and deafness due to tRNA lysine gene mutation	A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.	mondoexuq1wtf	cardiomyopathy and deafness due to tRNA lysine gene mutation|cardiomyopathy and deafness due to MTTK gene mutation											UMLS:CN036924|GARD:0001108|HGNC:7489|GTR:AN0103738|GTR:AN0103739														https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation				owl:Class
MONDO:0004879	biolink:NamedThing	senile atrophy of choroid		mondoexuq1wtf												SCTID:38513001|DOID:9776|ICD9:363.41|UMLS:C0154891																		owl:Class
MONDO:0016236	biolink:NamedThing	kaposiform hemangioendothelioma	Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.	mondoexuq1wtf	Kaposiform hemangioendothelioma|Kaposiform hemangio-endothelioma|KH|congenital cutaneous multifocal kaposiform hemangioendothelioma|KHE											MESH:C537007|GARD:0003077|UMLS:C1367420|NCIT:C27510|Orphanet:2122|ICD10:D18.0|SCTID:403983000														https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma				owl:Class
MONDO:0021121	biolink:NamedThing	hemangioendothelioma	A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.	mondoexuq1wtf	angioendothelioma|hemangioendothelioma											UMLS:C0018915|MESH:D006390|SCTID:403980002|NCIT:C3084|GARD:0006557|ICDO:9130/1														https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma				owl:Class
MONDO:0017809	biolink:NamedThing	parkinsonism due to ATP13A2 deficiency		mondoexuq1wtf	CLN12 disease											UMLS:CN203776|Orphanet:314632|ICD10:E75.4																		owl:Class
MONDO:0013414	biolink:NamedThing	retinitis pigmentosa 44	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.	mondoexuq1wtf	retinitis pigmentosa 44|retinitis pigmentosa type 44|RGR retinitis pigmentosa|RP44|retinitis pigmentosa caused by mutation in RGR											DOID:0110394|UMLS:C3151068|ICD10:H35.5|OMIM:613769																		owl:Class
MONDO:0014299	biolink:NamedThing	schwannomatosis 2		mondoexuq1wtf	schwannomatosis 2|SCHWANNOMATOSIS 2|Schwannomatosis type 2|SWNTS2											UMLS:C3810283|OMIM:615670																		owl:Class
MONDO:0009344	biolink:NamedThing	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.	mondoexuq1wtf	Al Gazali-Donnai-Muller syndrome|Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features|Al-Gazali-Donnai-Mueller syndrome											Orphanet:2153|MESH:C535615|GARD:0000584|SCTID:721223002|OMIM:235760|ICD10:Q43.1																		owl:Class
MONDO:0003157	biolink:NamedThing	disappearing bone disease	Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.	mondoexuq1wtf	Gorham's disease|massive osteolysis|essential osteolysis|Gorham-Stout syndrome|phantom bone disease											DOID:4837|SCTID:240161003|UMLS:C0029436|ICD9:733.09																		owl:Class
MONDO:0005898	biolink:NamedThing	paronychia	An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.	mondoexuq1wtf	paronychia (disease)|onychia and paronychia of finger|paronychia inflammation|onychia and paronychia of toe|fungal nail infection|infected nailfold|paronychia		paronychia (disease)									ICD10:L03.0|ICD9:681.9|MESH:D010304|HP:0001818|COHD:137057|DOID:13117|SCTID:71906005|EFO:0007421|NCIT:C79702|UMLS:C0030578																		owl:Class
MONDO:0001911	biolink:NamedThing	tracheal calcification	Abnormal deposits of calcium in the tracheal tissue.	mondoexuq1wtf	calcification of trachea					Editor note: consider ceding to HPO						HP:0002787|SCTID:81089005|ICD9:519.19|DOID:14224|UMLS:C0264324																		owl:Class
MONDO:0020424	biolink:NamedThing	intramural coronary arterial course	Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.	mondoexuq1wtf												Orphanet:99088|ICD10:Q24.5																		owl:Class
MONDO:0003286	biolink:NamedThing	extrahepatic bile duct leiomyoma	A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct|extrahepatic bile duct leiomyoma											DOID:5125|UMLS:C1333507|NCIT:C5855																		owl:Class
MONDO:0000385	biolink:NamedThing	benign digestive system neoplasm	A non-metastasizing neoplasm arising from any part of the digestive system.	mondoexuq1wtf	gastrointestinal system benign neoplasm|benign tumor of the digestive system|benign GI system neoplasm|benign neoplasm of digestive system|benign tumor of gastrointestinal system|alimentary part of gastrointestinal system benign neoplasm|benign gastrointestinal system tumor|benign neoplasm of gastrointestinal system|benign GI system tumor|benign tumor of GI system|benign gastrointestinal tumor|benign tumor of the gastrointestinal system|benign neoplasm of the digestive system|benign GI neoplasm|benign tumor of the GI system|benign gastrointestinal neoplasm|benign GI tumor|benign tumor of digestive system|benign digestive system tumor											DOID:0050624|NCIT:C4787|UMLS:C0497538																		owl:Class
MONDO:0019173	biolink:NamedThing	rabies	Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.	mondoexuq1wtf	lyssa											ICD9:071|SCTID:14168008|UMLS:C0034494|DOID:11260|NCIT:C28182|MESH:D011818|ICD10:A82.1|ICD10:A82|Orphanet:770|GARD:0007516|COHD:377793|ICD10:A82.0|MedDRA:10037742|ICD10:A82.9														https://rarediseases.info.nih.gov/diseases/7516/rabies				owl:Class
MONDO:0007427	biolink:NamedThing	deafness with anhidrotic ectodermal dysplasia		mondoexuq1wtf	deafness with anhidrotic ectodermal dysplasia											OMIM:125050|MESH:C565119|UMLS:C1852279																		owl:Class
MONDO:0018605	biolink:NamedThing	disorders of pentose/polyol metabolism		mondoexuq1wtf												Orphanet:440701|UMLS:CN237637																		owl:Class
MONDO:0015719	biolink:NamedThing	severe hemophilia A	Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	severe hemophilia type A|severe factor VIII deficiency											UMLS:C0272322|Orphanet:169802|SCTID:16872008|ICD10:D66																		owl:Class
MONDO:0007622	biolink:NamedThing	flood factor deficiency		mondoexuq1wtf	flood factor deficiency											MESH:C565009|UMLS:C1851056|OMIM:136150																		owl:Class
MONDO:0009822	biolink:NamedThing	otoonychoperoneal syndrome		mondoexuq1wtf	otoonychoperoneal syndrome|oto-onycho-peroneal syndrome											UMLS:C1850105|MESH:C564912|SCTID:441944007|GARD:0004170|ICD10:Q87.5|OMIM:259780|ICD9:759.89|Orphanet:2793														https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome				owl:Class
MONDO:0014900	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2Y	Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 2y|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy with progressive weakness, distal contractures and rigid spine|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|LGMD2Y|autosomal recessive muscular dystrophy due to LAP1B deficiency											Orphanet:424261|SCTID:725907002|OMIM:617072|ICD10:G71.0|DOID:0110289|UMLS:C4310731																		owl:Class
MONDO:0018529	biolink:NamedThing	qualitative or quantitative defects of Torsin-1A-interacting protein 1		mondoexuq1wtf	qualitative or quantitative defects of Torsin-1A-interacting protein type 1											Orphanet:424925																		owl:Class
MONDO:0014231	biolink:NamedThing	juvenile onset Parkinson disease 19A	Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.	mondoexuq1wtf	Parkinson disease 19B, early-onset|DNAJC6 Parkinson disease|Parkinson disease 19, juvenile-onset|juvenile onset Parkinson disease type 19A|Parkinson disease caused by mutation in DNAJC6|PARK19|Park19, formerly|PARK19A|Parkinson disease 19A, juvenile-onset|juvenile onset Parkinson's disease 19A											OMIM:615528|DOID:0060891|UMLS:C3809811|ICD10:G20																		owl:Class
MONDO:0014837	biolink:NamedThing	thrombocytopenia 6		mondoexuq1wtf	THC6|thrombocytopenia type 6|thrombocytopenia 6|hereditary thrombocytopenia with early-onset myelofibrosis|thrombocytopenia, autosomal dominant, 6											Orphanet:480851|UMLS:C4310789|OMIM:616937																		owl:Class
MONDO:0004725	biolink:NamedThing	rectum carcinoma in situ	A in situ carcinoma that involves the rectum.	mondoexuq1wtf	stage 0 rectal carcinoma|marked dysplasia of rectum|stage 0 rectal cancer aJCC v6 and v7|marked rectal dysplasia|severe dysplasia of the rectum|severe rectal dysplasia|stage 0 carcinoma of the rectum|stage 0 rectal cancer aJCC v6|stage 0 rectal cancer|rectal carcinoma in situ|marked dysplasia of the rectum|stage 0 rectum carcinoma|carcinoma in situ of rectum|severe dysplasia of rectum|stage 0 rectal cancer aJCC v7|stage 0 carcinoma of rectum|rectum in situ carcinoma|carcinoma in situ of the rectum											SCTID:308879003|ICD9:230.4|UMLS:C0154062|DOID:9174|NCIT:C4853|COHD:75210|ICD10:D01.2																		owl:Class
MONDO:0004698	biolink:NamedThing	intestine carcinoma in situ	A carcinoma in situ involving a intestine.	mondoexuq1wtf	intestine in situ carcinoma|stage 0 intestine carcinoma|carcinoma in situ of intestine											ICD9:230.7|SCTID:92617001|UMLS:C0685941|ICD10:D01.4|DOID:9024																		owl:Class
MONDO:0009390	biolink:NamedThing	hyperlysinuria with hyperammonemia		mondoexuq1wtf	hyperlysinuria with hyperammonemia|hyperlysinemia, periodic											ICD9:270.7|UMLS:C0268555|OMIM:238750|SCTID:342553006																		owl:Class
MONDO:0009189	biolink:NamedThing	multiple epiphyseal dysplasia type 4	Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	mondoexuq1wtf	MED4|epiphyseal dysplasia multiple 4|Polyepiphyseal dysplasia type 4|epiphyseal dysplasia, multiple, 4|rMED|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia 4|multiple epiphyseal dysplasia with double-layered patella|epiphyseal dysplasia, multiple, type 4|SLC26A2 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia with clubfoot|multiple epiphyseal dysplasia, autosomal recessive|EDM4|autosomal recessive multiple epiphyseal dysplasia											OMIM:226900|Orphanet:93307|GARD:0009793|UMLS:C1847593|DOID:0070300|ICD10:Q77.3|MESH:C535504|SCTID:715672007																		owl:Class
MONDO:0009581	biolink:NamedThing	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.	mondoexuq1wtf	Belgian type mental retardation syndrome|mental retardation syndrome, Belgian type|Belgian type intellectual disability syndrome|intellectual disability syndrome, Belgian type											GARD:0009811|UMLS:C1855303|OMIM:249599|SCTID:722454003|Orphanet:3044|MESH:C537447|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome				owl:Class
MONDO:0019314	biolink:NamedThing	cutaneous mastocytoma	Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.	mondoexuq1wtf	multiple mastocytoma|solitary mastocytoma|cutaneous local mastocytoma											ICD10:Q82.2|Orphanet:79455|GARD:0012687																		owl:Class
MONDO:0022022	biolink:NamedThing	bowenoid papulosis	Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.	mondoexuq1wtf	BP|bowenoid papulosis|Bowenoid papulosis											ICD9:447.8|NCIT:C8374|GARD:0005951|SCTID:402913004|UMLS:C0334106														https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis				owl:Class
MONDO:0009722	biolink:NamedThing	Bailey-Bloch congenital myopathy	Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	mondoexuq1wtf	congenital myopathy-cleft palate-malignant hyperthermia syndrome|myopathy, congenital, with cleft palate and malignant hyperthermia|STAC3 disorder|congenital myopathy - cleft palate - malignant hyperthermia|congenital myopathy cleft palate and malignant hyperthermia|NAM|Native American myopathy											MESH:C538343|OMIM:255995|ICD10:G71.2|GARD:0008432|Orphanet:168572|DOID:0060346|SCTID:723439002|UMLS:C1850625														https://github.com/monarch-initiative/mondo/issues/1377				owl:Class
MONDO:0010333	biolink:NamedThing	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	mondoexuq1wtf	MRXS28|intellectual disability, X-linked, syndromic 28|mental retardation, X-linked, syndromic 28|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia|Graham-Cox syndrome|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia											Orphanet:52055|OMIM:300472|DOID:0060816|ICD10:Q87.8|GARD:0012486|SCTID:722282008|MESH:C564509																		owl:Class
MONDO:0023521	biolink:NamedThing	Judge Misch wright syndrome		mondoexuq1wtf	keratodermia palmoplantar periorificial|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia|dry skin, photophobia hyperkeratosis, abnormal fingernails											GARD:0003061|UMLS:C2931590|MESH:C537692														https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome				owl:Class
MONDO:0011556	biolink:NamedThing	basal cell carcinoma, susceptibility to, 1		mondoexuq1wtf	basal cell carcinoma, nonsyndromic|basal cell carcinoma, multiple|multiple basal cell carcinoma|basal cell carcinoma, susceptibility to, 1|BCC1											GARD:0009303|OMIM:605462																		owl:Class
MONDO:0008942	biolink:NamedThing	cerebelloparenchymal disorder II		mondoexuq1wtf	CPD, late-onset recessive type|cerebelloparenchymal disorder II|CPD2											OMIM:213100|MESH:C565866|UMLS:C1859299																		owl:Class
MONDO:0000114	biolink:NamedThing	cerebelloparenchymal disorder		mondoexuq1wtf												DC:0000491																		owl:Class
MONDO:0020342	biolink:NamedThing	congenital myopathy with excess of thin filaments		mondoexuq1wtf	actin myopathy											Orphanet:98904|MESH:C579880|ICD10:G71.2																		owl:Class
MONDO:0020109	biolink:NamedThing	constitutional megaloblastic anemia due to vitamin B12 metabolism disorder		mondoexuq1wtf												ICD10:D51.2|UMLS:CN227785|ICD10:D51.3|ICD10:D51.8|ICD10:D51.9|ICD10:D51.1|ICD10:D51.0|Orphanet:98396																		owl:Class
MONDO:0001700	biolink:NamedThing	megaloblastic anemia	Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.	mondoexuq1wtf	megaloblastic anemia|Grasbeck-Imerslund syndrome|RH-MGA1|recessive hereditary megaloblastic anemia 1|megaloblastic anemia (disease)|IGS|MGA1 Norwegian type		megaloblastic anemia (disease)									NCIT:C34382|HP:0001889|UMLS:C0002888|ICD10:D53.1|SCTID:53165003|ICD9:281.3|DOID:13382|COHD:435789																		owl:Class
MONDO:0011185	biolink:NamedThing	Thiel-Behnke corneal dystrophy	Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.	mondoexuq1wtf	honeycomb corneal dystrophy|corneal dystrophy of Bowman layer type II|corneal dystrophy of the Bowman layer type 2|Thiel-Behnke corneal dystrophy|CDB2|corneal dystrophy of Bowman Layer, type 2|anterior limiting membrane dystrophy type 2|CDTB|corneal dystrophy of Bowman layer type 2|Waardenburg-Jonker corneal dystrophy|corneal dystrophy, honeycomb-Shaped|corneal dystrophy, Thiel-Behnke type|curly fiber corneal dystrophy|corneal dystrophy honeycomb-shaped|anterior limiting membrane dystrophy type II|TBCD|corneal dystrophy Thiel Behnke type|corneal dystrophy honeycomb shaped|Thiel Behnke corneal dystrophy											OMIM:602082|MESH:C535942|GARD:0009275|ICD10:H18.5|ICD9:371.52|UMLS:C1562894|SCTID:417065002|Orphanet:98960|DOID:0060455														https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type				owl:Class
MONDO:0021230	biolink:NamedThing	uterine cervix neoplasm	A neoplasm (disease) that involves the uterine cervix.	mondoexuq1wtf	cervix uteri neoplasm|uterine cervix tumor|neoplasm of the uterine cervix|uterine cervix neoplasm (disease)|tumor of cervix|tumor of the uterine cervix|neoplasm of the cervix uteri|neoplasm of uterine cervix|tumor of cervix uteri|tumor of the cervix|cervix neoplasm|neoplasm of cervix|neoplasm of cervix uteri|cervical tumor|tumor of the cervix uteri|cervix|tumor of uterine cervix|cervix tumor|cervix uteri tumor|Cervical neoplasm|neoplasm of the cervix											NCIT:C2940|ONCOTREE:CERVIX																		owl:Class
MONDO:0019574	biolink:NamedThing	secondary intestinal lymphangiectasia	Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.	mondoexuq1wtf												Orphanet:90363|ICD10:I89.0|SCTID:717255008|UMLS:C4273969																		owl:Class
MONDO:0000660	biolink:NamedThing	akinetopsia	An agnosia that is a loss of motion perception.	mondoexuq1wtf												DOID:0060130																		owl:Class
MONDO:0012718	biolink:NamedThing	hypotonia with lactic acidemia and hyperammonemia	This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.	mondoexuq1wtf	combined oxidative phosphorylation defect type 5|MRPS22 combined oxidative phosphorylation deficiency|COXPD5|combined oxidative phosphorylation deficiency type 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22|combined oxidative phosphorylation deficiency 5											MESH:C567126|DOID:0111473|Orphanet:137908|UMLS:C4510567|UMLS:C2673642|SCTID:724279004|ICD10:E88.8|OMIM:611719																		owl:Class
MONDO:0006178	biolink:NamedThing	dedifferentiated solitary fibrous tumor	A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.	mondoexuq1wtf												EFO:1000214|UMLS:C2699572|NCIT:C79948																		owl:Class
MONDO:0044342	biolink:NamedThing	thoracic disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the thoracic spine.	mondoexuq1wtf	thoracic Disc degenerative disorder|thoracic Disc degenerative disease|intervertebral disc degenerative disorder of thoracic region of vertebral column|degeneration of thoracic intervertebral disc|thoracic region of vertebral column intervertebral disc degenerative disorder|thoracic Disc Degeneration											NCIT:C27155|SCTID:68675004|UMLS:C0263872																		owl:Class
MONDO:0021052	biolink:NamedThing	parasympathetic paraganglioma	A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.	mondoexuq1wtf	parasympathetic Paraganglionic neoplasm|parasympathetic paraganglioma|parasympathetic Extra-adrenal paraganglioma|paraganglioma of parasympathetic nervous system|parasympathetic nervous system paraganglioma											NCIT:C4217|ICDO:8682/1|UMLS:C0334416																		owl:Class
MONDO:0003391	biolink:NamedThing	vulvar alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the vulva.	mondoexuq1wtf												UMLS:C1520069|NCIT:C40320|DOID:5313																		owl:Class
MONDO:0011655	biolink:NamedThing	alveolar soft part sarcoma	An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.	mondoexuq1wtf	alveolar soft-part sarcoma|adult alveolar soft-Part sarcoma|adult alveolar soft part sarcoma|pediatric alveolar soft Part sarcoma|ASPS|adult alveolar soft Part sarcoma|alveolar soft tissue sarcoma|childhood alveolar soft part sarcoma|alveolar soft part sarcoma|alveolar soft PART sarcoma|alveolar soft Part sarcoma|alveolar soft part sarcoma (disease)|alveolar soft-tissue sarcoma		alveolar soft part sarcoma (disease)									UMLS:C0279544|EFO:0007143|Orphanet:163699|DOID:4239|ONCOTREE:ASPS|MedDRA:10001882|GARD:0005654|ICD10:C49.9|OMIM:606243|NCIT:C3750|HP:0012218|MESH:D018234|SCTID:404056007|UMLS:C0206657|ICDO:9581/3|NCIT:C7943|ICD9:171.9																		owl:Class
MONDO:0006343	biolink:NamedThing	ovarian transitional cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.	mondoexuq1wtf	ovarian transitional cell carcinoma|transitional cell carcinoma of the ovary|ovarian transitional cell cancer|malignant ovarian transitional cell neoplasm|ovarian transitional cell neoplasm|transitional cell carcinoma of ovary|ovary transitional cell carcinoma											NCIT:C5240|UMLS:C1335184|EFO:1000435|DOID:4000																		owl:Class
MONDO:0000645	biolink:NamedThing	fallopian tube benign neoplasm	A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.	mondoexuq1wtf	fallopian tube benign neoplasm|benign fallopian tube neoplasm|benign neoplasm of the fallopian tube|fallopian tube tumor, benign|benign tumor of the fallopian tube|benign fallopian tube tumor|benign neoplasm of fallopian tube|benign tumor of fallopian tubes|fallopian tube neoplasm, benign|benign tumor of fallopian tube											Orphanet:180237|ICD10:D28.2|DOID:0060111|MedDRA:10053865|NCIT:C4517|UMLS:C0346190|SCTID:92100009																		owl:Class
MONDO:0008961	biolink:NamedThing	Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth neuropathy, type 4A|CMT4A|GDAP1 Charcot-Marie-Tooth disease type 4|Charcot Marie Tooth disease type 4A|Charcot-Marie-Tooth disease, type 4A|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A											SCTID:715796006|DOID:0110185|UMLS:C1859198|MESH:C535419|ICD10:G60.0|OMIM:214400|GARD:0001252|Orphanet:99948														https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a				owl:Class
MONDO:0015608	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to radiation	Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.	mondoexuq1wtf	AML and myelodysplastic syndromes related to radiation											UMLS:CN199981|Orphanet:164726																		owl:Class
MONDO:0019457	biolink:NamedThing	therapy related acute myeloid leukemia and myelodysplastic syndrome	An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)	mondoexuq1wtf	Secondary Acute myelocytic Leukemia|Secondary Acute granulocytic Leukemia|secondary acute myeloid leukemia|Secondary Acute myeloblastic Leukemia|Secondary Acute myeloid Leukemia (AML)|therapy-related AML and myelodysplastic syndrome|secondary AML|Secondary Acute myelogenous Leukemia|Secondary AGL											SCTID:721306009|ICD10:C92.0|NCIT:C25765|Orphanet:86846|GARD:0012762														https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome				owl:Class
MONDO:0024888	biolink:NamedThing	mesonephric neoplasm	An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	mondoexuq1wtf	Mesonephroma|mesonephric duct tumor|Wolffian duct tumor|mesonephric duct neoplasm|mesonephric neoplasm|Wolffian duct neoplasm|neoplasm of mesonephric duct|mesonephric tumor|mesonephroma|tumor of mesonephric duct											ICDO:9110/1|NCIT:C4295																		owl:Class
MONDO:0011566	biolink:NamedThing	abdominal obesity-metabolic syndrome quantitative trait locus 2		mondoexuq1wtf	abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2|Aoms2											OMIM:605572																		owl:Class
MONDO:0043137	biolink:NamedThing	isolated microcephaly		mondoexuq1wtf	microcephaly, non-syndromic|Nonsyndromal microcephaly|nonsyndromic microcephaly											MESH:C537542|GARD:0003630																		owl:Class
MONDO:0005042	biolink:NamedThing	head disease	A disease involving the head.	mondoexuq1wtf	disease of head|disorder of head|disease or disorder of head|head disease|head disease or disorder											EFO:0000524|SCTID:118934005|UMLS:C1290856																		owl:Class
MONDO:0007070	biolink:NamedThing	adiposis dolorosa	Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.	mondoexuq1wtf	lipomatosis dolorosa|adiposis dolorosa|Dercum's disease|Adiposalgia|Neurolipomatosis|Dercum disease|adipose tissue rheumatism											Orphanet:36397|UMLS:C0001529|EFO:1000667|GARD:0005750|ICD10:E88.2|MESH:D000274|SCTID:71404003|ICD9:272.8|MedDRA:10001294|NCIT:C84540|OMIM:103200|Wikipedia:Adiposis_dolorosa|DOID:3928														https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa				owl:Class
MONDO:0008698	biolink:NamedThing	achalasia	A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.	mondoexuq1wtf	achalasia|achalasia of cardia|achalasia of esophagus|achalasia, familial esophageal|achalasia (disease)|lack of reflex relaxation of lower oesophageal sphincter|esophageal achalasia|cardiospasm|hypertensive lower esophageal sphincter		achalasia (disease)									COHD:318186|ICD10:K22.0|UMLS:C0014848|SCTID:235630008|UMLS:C1321756|UMLS:C2939435|HP:0002571|DOID:9164|ICD9:530.0|OMIM:200400																		owl:Class
MONDO:0016701	biolink:NamedThing	oligoastrocytic tumor		mondoexuq1wtf	mixed oligodendroglial and astrocytic tumor											Orphanet:251651|UMLS:CN201945																		owl:Class
MONDO:0003840	biolink:NamedThing	epicardium lipoma	A rare benign adipose tissue neoplasm of the epicardium of the heart.	mondoexuq1wtf	lipoma of epicardium|lipoma of the epicardium|epicardial lipoma|epicardium lipoma											DOID:6284|UMLS:C1333411|NCIT:C6742																		owl:Class
MONDO:0004193	biolink:NamedThing	pediatric ovarian dysgerminoma	A dysgerminoma that arises from the ovary and occurs in children.	mondoexuq1wtf	dysgerminoma of ovary of childhood|pediatric dysgerminoma of ovary|childhood ovarian dysgerminoma|childhood dysgerminoma of ovary|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma											NCIT:C6550|UMLS:C1332988|DOID:7340																		owl:Class
MONDO:0030706	biolink:NamedThing	Trichomonas cystitis	An cystitis caused by infection with Trichomonas vaginalis.	mondoexuq1wtf	Trichomonas cystitis|Trichomonas vaginalis cystitis|trichomonal cystitis|Trichomonas vaginalis caused cystitis|cystitis in trichomoniasis											ICD9:131.09|SCTID:197850006|UMLS:C0341733|NCIT:C35405																		owl:Class
MONDO:0015141	biolink:NamedThing	disorder of medulla oblongata	A disease that involves the medulla oblongata.	mondoexuq1wtf	disease of medulla oblongata|medulla oblongata disease or disorder|disease or disorder of medulla oblongata|medulla oblongata disease|medullar disease|disorder of medulla oblongata											Orphanet:102000|UMLS:CN197487																		owl:Class
MONDO:0000668	biolink:NamedThing	autotopagnosia	An agnosia that is a loss of the ability to orient parts of the body.	mondoexuq1wtf												DOID:0060138																		owl:Class
MONDO:0004130	biolink:NamedThing	anus basaloid carcinoma	An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.	mondoexuq1wtf	basaloid carcinoma of anus|anus basaloid squamous cell carcinoma|anal basaloid carcinoma|basaloid carcinoma of the anus											NCIT:C8256|UMLS:C0280470|DOID:7174																		owl:Class
MONDO:0006082	biolink:NamedThing	anal squamous cell carcinoma	A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.	mondoexuq1wtf	anal squamous cell carcinoma|epidermoid anal carcinoma|squamous cell anal carcinoma|squamous cell carcinoma - anus|squamous cell carcinoma of anus|ANSC|anal squamous cell cancer|epidermoid carcinoma of the anus|anus squamous cell carcinoma|squamous cell carcinoma of the anus|epidermoid carcinoma of anus											ONCOTREE:ANSC|NCIT:C9161|UMLS:C1412036|DOID:5525|EFO:1000081																		owl:Class
MONDO:0008596	biolink:NamedThing	trichorhinophalangeal syndrome type I	An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.	mondoexuq1wtf	trichorhinophalangeal syndrome, type I|trichorhinophalangeal syndrome, type 1|TRPS 1|type III trichorhinophalangeal syndrome|type I trichorhinophalangeal syndrome|trichorhinophalangeal syndrome type 1|TRPS1|trichorhinophalangeal dysplasia type I|Sugio-Kajii syndrome|Giedion syndrome											ICD9:759.89|GARD:0007800|DOID:14743|OMIM:190350|MESH:C536820|NCIT:C75109|SCTID:254091006																		owl:Class
MONDO:0019176	biolink:NamedThing	trichorhinophalangeal syndrome type I or III	Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.	mondoexuq1wtf	trichorhinophalangeal syndrome type 1 and 3											UMLS:CN205736|Orphanet:77258|ICD10:Q87.1																		owl:Class
MONDO:0000652	biolink:NamedThing	integumentary system benign neoplasm	A benign neoplasm that involves the integumental system.	mondoexuq1wtf	integumental system benign neoplasm											DOID:0060121																		owl:Class
MONDO:0005649	biolink:NamedThing	appendicitis	Acute inflammation of the vermiform appendix.	mondoexuq1wtf	acute appendicitis|acute appendicitis with generalized peritonitis|acute appendicitis with peritoneal abscess|inflammation of vermiform appendix|vermiform appendix inflammation											MESH:D001064|ICD9:541|DOID:8337|EFO:0007149|NCIT:C35145|COHD:440448|ICD10:K37|SCTID:74400008|ICD9:540-543.99|UMLS:C0003615																		owl:Class
MONDO:0002269	biolink:NamedThing	gastroenteritis	An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.	mondoexuq1wtf	intestine inflammation|cholera morbus|inflammation of intestine|infectious colitis, enteritis and gastroenteritis											DOID:2326|UMLS:C0017160|COHD:198062|SCTID:25374005|EFO:1001463|NCIT:C34632|ICD9:558.9|ICD10:K52.9|MESH:D005759																		owl:Class
MONDO:0012508	biolink:NamedThing	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.	mondoexuq1wtf	agammaglobulinemia, microcephaly, and severe dermatitis											Orphanet:83617|ICD10:Q87.0|UMLS:C1864848|MESH:C538055|GARD:0010011|OMIM:610483|SCTID:722281001																		owl:Class
MONDO:0017734	biolink:NamedThing	sialidosis	Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	mondoexuq1wtf												ICD10:E77.1|SCTID:38795005|Orphanet:309294|MedDRA:10058800																		owl:Class
MONDO:0013671	biolink:NamedThing	hydatidiform mole, recurrent, 2	Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.	mondoexuq1wtf	HYDM2|hydatidiform Mole, recurrent, type 2|KHDC3L complete hydatidiform mole|complete hydatidiform mole caused by mutation in KHDC3L|hydatidiform Mole, complete|hydatidiform mole, recurrent, 2|hydatidiform MOLE, recurrent, 2											OMIM:614293|UMLS:C3280352																		owl:Class
MONDO:0017716	biolink:NamedThing	disorder of carnitine cycle and carnitine transport		mondoexuq1wtf												Orphanet:309130|ICD10:E71.3|UMLS:CN227184																		owl:Class
MONDO:0020331	biolink:NamedThing	indolent systemic mastocytosis	Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.	mondoexuq1wtf	indolent systemic mastocytosis (morphologic abnormality)|ism											NCIT:C9286|SCTID:70910003|ICD10:D47.0|Orphanet:98848|ICDO:9741/1|DOID:4660|ONCOTREE:ISM|UMLS:C0272203|MedDRA:10056452																		owl:Class
MONDO:0016586	biolink:NamedThing	systemic mastocytosis	Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.	mondoexuq1wtf	SMCD - systemic mast cell disease|SM|Mast cell disease|systemic tissue Mast cell disease|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|systemic tissue mast cell disease|systemic mastocytosis|systemic mast cell disease|Agressive systemic mastocytosis											SCTID:397016004|DOID:349|MedDRA:10042949|GARD:0008616|Orphanet:2467|UMLS:C0221013|NCIT:C9235|ONCOTREE:SM|ICD10:C96.2																		owl:Class
MONDO:0041295	biolink:NamedThing	acute papillary necrosis	Acute form of kidney papillary necrosis.	mondoexuq1wtf	acute kidney papillary necrosis|acute necrotizing papillitis|kidney papillary necrosis, acute|acute renal medullary necrosis|acute papillary necrosis											SCTID:270494003																		owl:Class
MONDO:0008638	biolink:NamedThing	varicose disease	A vascular disease characterized by the presence of enlarged and tortuous veins.	mondoexuq1wtf	varices|Venous ectasia|varix|varicose veins|Venous varices											SCTID:128060009|UMLS:C0042345|ICD10:I83.90|DOID:799|OMIM:192200|COHD:312349|MESH:D014648|NCIT:C35114|ICD9:456.8|ICD9:454.9																		owl:Class
MONDO:0002720	biolink:NamedThing	sella turcica neoplasm	A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.	mondoexuq1wtf	neoplasm of sella turcica|selt|tumor of sella turcica|sella turcica neoplasm|sella turcica tumor|sellar neoplasm|tumor of the sella turcica|neoplasm of the sella turcica|sellar tumor											NCIT:C4944|ONCOTREE:SELT|DOID:3643|UMLS:C0748616																		owl:Class
MONDO:0015392	biolink:NamedThing	nasal glial heterotopia	Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.	mondoexuq1wtf	nasal glioma											UMLS:C0266490|ICD9:748.1|Orphanet:141112|SCTID:5645008																		owl:Class
MONDO:0002548	biolink:NamedThing	cellular schwannoma	A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.	mondoexuq1wtf	cellular neurinoma|CSCHW|cellular neurilemmoma|cellular schwannoma											ICD9:215.9|UMLS:C0431124|SCTID:404026003|NCIT:C4724|ONCOTREE:CSCHW|DOID:3196																		owl:Class
MONDO:0018416	biolink:NamedThing	autosomal recessive spastic paraplegia type 59		mondoexuq1wtf	SPG59											ICD10:G11.4|Orphanet:401795|UMLS:CN226121																		owl:Class
MONDO:0021664	biolink:NamedThing	cervical aortic arch		mondoexuq1wtf	aortic arch syndrome					Editor note: consider merging with MONDO:0017991						ICD10:Q25.4|Orphanet:99079																		owl:Class
MONDO:0032937	biolink:NamedThing	myopathy, congenital proximal, with minicore lesions		mondoexuq1wtf	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS|MYOPMIL											OMIM:618823																		owl:Class
MONDO:0033864	biolink:NamedThing	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		mondoexuq1wtf												OMIM:618218|Orphanet:522077																		owl:Class
MONDO:0004223	biolink:NamedThing	polyp of middle ear	A benign polypoid growth in the middle ear.	mondoexuq1wtf	middle Ear polyp|polyp of the middle ear|middle ear polyp|polyp - middle ear											DOID:7439|SCTID:73103007|ICD10:H74.4|NCIT:C6933|UMLS:C0271466																		owl:Class
MONDO:0013969	biolink:NamedThing	combined oxidative phosphorylation defect type 11	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.	mondoexuq1wtf	combined oxidative phosphorylation deficiency type 11|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|COXPD11|RMND1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 11|combined oxidative phosphorylation deficiency caused by mutation in RMND1											DOID:0111481|OMIM:614922|Orphanet:324535|UMLS:C3554067|ICD10:G31.8																		owl:Class
MONDO:0004131	biolink:NamedThing	anal verrucous carcinoma	A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.	mondoexuq1wtf	anal verrucous carcinoma|anal Buschke-Lowenstein tumor|anal giant (malignant) condyloma											DOID:7175|NCIT:C7470|UMLS:C1332278																		owl:Class
MONDO:0008270	biolink:NamedThing	polydactyly of a triphalangeal thumb	Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.	mondoexuq1wtf	polydactyly of triphalangeal thumb|triphalangeal thumb-polysyndactyly syndrome|preaxial polydactyly type 2|triphalangeal thumb with polysyndactyly|triphalangeal thumb|polydactyly, preaxial II|polydactyly, preaxial 2|TPT-PS syndrome|triphalangeal thumb-polydactyly syndrome|PPD2|polydactyly, preaxial type 2											GARD:0005289|ICD10:Q69.1|UMLS:C1868114|SCTID:715710001|Orphanet:93336|OMIM:174500																		owl:Class
MONDO:0002085	biolink:NamedThing	benign shuddering attacks		mondoexuq1wtf												UMLS:C0375200|ICD10:G25.83|DOID:1713|SCTID:446995005|ICD9:333.93																		owl:Class
MONDO:0010808	biolink:NamedThing	fatal familial insomnia	Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.	mondoexuq1wtf	fatal familial INSOMNIA|familial fatal insomnia|Insomnia, fatal familial|Insomnia familial fatal|fatal familial insomnia|FFI											UMLS:C0206042|ICD10:A81.83|NCIT:C84711|Orphanet:466|OMIM:600072|DOID:0050433|ICD10:A81.8|SCTID:83157008|GARD:0006429|MedDRA:10072077|MESH:D034062|ICD9:046.72														https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia				owl:Class
MONDO:0001305	biolink:NamedThing	laryngostenosis	Narrowing of the laryngeal airway.	mondoexuq1wtf	stenosis of larynx											MESH:D007829|HP:0001602|ICD10:J38.6|DOID:11527|UMLS:C0023075|ICD9:478.74|COHD:24974|SCTID:75547007																		owl:Class
MONDO:0017880	biolink:NamedThing	Rift valley fever	Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.	mondoexuq1wtf	RVF											SCTID:402917003|Orphanet:319251|ICD10:A92.4|MESH:D012295|DOID:1328|NCIT:C128419|MedDRA:10039143|UMLS:C0035613																		owl:Class
MONDO:0032620	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 15		mondoexuq1wtf	MC1DN15|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15											OMIM:618237																		owl:Class
MONDO:0015464	biolink:NamedThing	craniofrontonasal dysplasia-Poland anomaly syndrome	Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.	mondoexuq1wtf	Webster-Deming syndrome											SCTID:720757001|ICD10:Q87.8|Orphanet:1521|UMLS:CN199598																		owl:Class
MONDO:0006422	biolink:NamedThing	small intestinal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf												UMLS:C1710113|EFO:1000539|NCIT:C43553																		owl:Class
MONDO:0024661	biolink:NamedThing	tubulovillous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.	mondoexuq1wtf	tubulovillous adenoma											ICDO:8263/0|NCIT:C4143|UMLS:C0334307																		owl:Class
MONDO:0001357	biolink:NamedThing	hypochromic anemia	Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.	mondoexuq1wtf	hypochromic anemia (disease)|hypochromic anemia|anemia hypochromic		hypochromic anemia (disease)									HP:0001931|UMLS:C0002884|NCIT:C34380|SCTID:44452003|DOID:11759|ICD10:D50																		owl:Class
MONDO:0000237	biolink:NamedThing	erysipeloid	An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis.	mondoexuq1wtf						Editor note: consider merging with parent						ICD10:A26|SCTID:400105005|MESH:D004887|DOID:0050061|UMLS:C1276801																		owl:Class
MONDO:0006752	biolink:NamedThing	Erysipelothrix rhusiopathiae infectious disease	A disease caused by infection with Erysipelothrix rhusiopathiae.	mondoexuq1wtf	Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder											EFO:1000928																		owl:Class
MONDO:0022855	biolink:NamedThing	congenital vagal hyperreflexivity		mondoexuq1wtf												GARD:0001508														https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity				owl:Class
MONDO:0021028	biolink:NamedThing	genetic nail anomaly	An instance of nail anomaly that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic nail anomaly											Orphanet:183454																		owl:Class
MONDO:0018588	biolink:NamedThing	ALECT2 amyloidosis	A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.	mondoexuq1wtf	leukocyte chemotactic factor-2 amyloidosis|LECT2 amyloidosis											Orphanet:439224|ICD10:E85.8																		owl:Class
MONDO:0006202	biolink:NamedThing	extrahepatic bile duct adenosquamous carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.	mondoexuq1wtf	extrahepatic bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma|adenosquamous bile duct carcinoma											NCIT:C5778|EFO:1000247																		owl:Class
MONDO:0012661	biolink:NamedThing	susceptibility to visceral leishmaniasis, 3		mondoexuq1wtf	leishmaniasis, visceral, susceptibility to, 3|KAZA3|kala-AZAR, susceptibility to, 3											OMIM:611382																		owl:Class
MONDO:0005445	biolink:NamedThing	visceral leishmaniasis	A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.	mondoexuq1wtf	kala-azar|infection by visceral leishmaniasis|kala-azar susceptibility|viscus leishmaniasis|kala-azar, susceptibility to					Editor note: split out susceptibility/PS						EFO:0005045|MESH:D007898|OMIMPS:608207|DOID:9146|ICD10:B55.0|ICD9:085.0|UMLS:C0023290|SCTID:186803007|NCIT:C34771|COHD:200652																		owl:Class
MONDO:0002713	biolink:NamedThing	epidural spinal canal neoplasm	A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.	mondoexuq1wtf	tumor of the epidural spinal canal|extradural spinal tumors|epidural neoplasm|epidural spinal canal tumor|neoplasm of extradural spinal canal|tumor of the extradural spinal canal|extradural spinal canal tumor|neoplasm of the extradural spinal canal|tumor of epidural spinal canal|tumor of extradural spinal canal|extradural neoplasm|epidural spinal neoplasms|epidural spinal tumors|extradural tumor|epidural space tumor|extradural spinal neoplasms|neoplasm of epidural spinal canal|epidural space neoplasm|neoplasm of epidural space|extradural spinal canal neoplasm|neoplasm of the epidural spinal canal|epidural spinal canal neoplasm|tumor of epidural space|epidural tumor|epidural spinal canal tumors|extradural spinal canal neoplasms											UMLS:C0014536|NCIT:C3019|EFO:1000923|DOID:3618|MESH:D015174																		owl:Class
MONDO:0007776	biolink:NamedThing	hypersensitivity pneumonitis, familial	An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hypersensitivity pneumonitis, familial|hereditary hypersensitivity pneumonitis											OMIM:145300|UMLS:C1840386|MESH:C536846																		owl:Class
MONDO:0008535	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 1		mondoexuq1wtf	telangiectasia, hereditary hemorrhagic, type 1|telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER|ENG-related Hereditary hemorrhagic telangiectasia|Osler-Rendu-Weber disease|HHT|HHT1|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|Osler Weber Rendu syndrome type 1|ORW disease|hereditary hemorrhagic telangiectasia type 1											OMIM:187300|UMLS:CN034812|GTR:AN0097750|GTR:AN0195329|GTR:AN0097748|GTR:AN0097757																		owl:Class
MONDO:0005026	biolink:NamedThing	endometrioid adenocarcinoma	An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.	mondoexuq1wtf	endometrioid carcinoma of female reproductive system|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma|endometrioid adenocarcinoma											UMLS:C0206687|NCIT:C3769|EFO:0000466|UMLS:C1569637|ICDO:8380/3																		owl:Class
MONDO:0005430	biolink:NamedThing	early onset hypertension	A form of hypertension with early onset relative to normal range for a given population.	mondoexuq1wtf												EFO:0004772																		owl:Class
MONDO:0009599	biolink:NamedThing	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	mondoexuq1wtf	metaphyseal dysostosis mental retardation conductive deafness|metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis intellectual disability conductive deafness											UMLS:C1855175|GARD:0003566|ICD10:Q78.5|Orphanet:2502|OMIM:250420|MESH:C565396														https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness				owl:Class
MONDO:0020665	biolink:NamedThing	high grade malignant neoplasm		mondoexuq1wtf	high grade malignant neoplasm											NCIT:C36046																		owl:Class
MONDO:0006992	biolink:NamedThing	syphilitic aortitis	Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.	mondoexuq1wtf												ICD9:093.1|EFO:1001206|UMLS:C0003511|SCTID:20735004|ICD10:A52.02|MedDRA:10042900																		owl:Class
MONDO:0007252	biolink:NamedThing	Gordon syndrome	Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	mondoexuq1wtf	distal arthrogryposis type IIA|arthrogryposis distal type 3|camptodactyly-cleft palate-clubfoot syndrome|camptodactyly, cleft palate, and clubfoot|DA3|arthrogryposis multiplex congenita, distal, type 2A|arthrogryposis, distal, type 3|distal arthrogryposis type 3|Gordon syndrome											ICD10:Q68.8|GARD:0002553|ICD9:579.8|MESH:C537288|OMIM:114300|UMLS:C0220666|Orphanet:376|SCTID:237850008														https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome				owl:Class
MONDO:0007569	biolink:NamedThing	erythema nodosum, familial		mondoexuq1wtf	erythema nodosum, familial|familial erythema nodosum											MESH:C535510|GARD:0009259|UMLS:C1851503|OMIM:132990														https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum				owl:Class
MONDO:0003115	biolink:NamedThing	subglottic hemangioma	A hemangioma arising from the subglottic area.	mondoexuq1wtf	hemangioma of the subglottis|subglottic hemangioma|subglottis hemangioma|hemangioma of subglottis|subglottic angioma|angioma of the subglottis|subglottis angioma|angioma of subglottis											UMLS:C1336518|NCIT:C6026|DOID:472																		owl:Class
MONDO:0007907	biolink:NamedThing	lipoma of the conjunctiva		mondoexuq1wtf	lipoma of the conjunctiva											MESH:C563620|OMIM:151700|UMLS:C1835373																		owl:Class
MONDO:0004344	biolink:NamedThing	childhood malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in childhood.	mondoexuq1wtf	malignant pediatric hemangiopericytoma|malignant childhood hemangiopericytoma|malignant hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						DOID:7731|UMLS:C0279983|NCIT:C8090																		owl:Class
MONDO:0014745	biolink:NamedThing	congenital myasthenic syndrome 19	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.	mondoexuq1wtf	congenital myasthenic syndrome caused by mutation in COL13A1|COL13A1 congenital myasthenic syndrome|CMS19|myasthenic syndrome, congenital, type 19|congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, 19											OMIM:616720|UMLS:C4225235|DOID:0110673																		owl:Class
MONDO:0004184	biolink:NamedThing	urethral disease	A disease involving the urethra.	mondoexuq1wtf	urethra disease or disorder|disorder of urethra|urethra disease|disease of urethra|urethra disorder|disease or disorder of urethra											MESH:D014522|NCIT:C26903|ICD10:N36.9|DOID:732|SCTID:4985009|UMLS:C0041969																		owl:Class
MONDO:0007168	biolink:NamedThing	atelosteogenesis type III	Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	mondoexuq1wtf	atelosteogenesis, type 3|AOIII|atelosteogenesis type 3|Aoiii|atelosteogenesis, type III|AO3											ICD10:Q78.8|GARD:0010608|MESH:C579928|OMIM:108721|Orphanet:56305|SCTID:725142004																		owl:Class
MONDO:0006966	biolink:NamedThing	secondary Parkinson disease	A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.	mondoexuq1wtf	disorder presenting primarily with parkinsonism|symptomatic parkinsonism|secondary parkinsonism (disorder) [ambiguous]|secondary parkinsonism, unspecified|secondary Parkinsonism											ICD9:332.1|COHD:374013|DOID:13548|SCTID:265377002|MESH:D010302|EFO:1001175|ICD10:G21|ICD10:G21.9|UMLS:C0030569|NCIT:C34899																		owl:Class
MONDO:0009396	biolink:NamedThing	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria		mondoexuq1wtf	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria											UMLS:C1855924|OMIM:239199|MESH:C565496																		owl:Class
MONDO:0004469	biolink:NamedThing	pseudovascular skin squamous cell carcinoma		mondoexuq1wtf	skin pseudovascular squamous cell carcinoma|pseudovascular skin squamous cell carcinoma											NCIT:C27542|DOID:8122|UMLS:C1335974																		owl:Class
MONDO:0005056	biolink:NamedThing	keratinizing squamous cell carcinoma	Squamous cell carcinomas with morphologically prominent production of keratin.	mondoexuq1wtf	squamous cell carcinoma, keratinizing (morphologic abnormality)|keratinizing epidermoid carcinoma|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing											UMLS:C0334247|NCIT:C4105|ICDO:8071/3|DOID:5521|EFO:0000559																		owl:Class
MONDO:0015414	biolink:NamedThing	paramedian nasal cleft	Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.	mondoexuq1wtf	alar rim cleft|isolated coloboma of the nose|Tessier number 1 cleft|isolated cleft of the ala nasi|cleft nose|alar cleft											SCTID:204521002|Orphanet:141242|ICD10:Q18.8|ICD9:748.1																		owl:Class
MONDO:0015478	biolink:NamedThing	paramedian facial cleft		mondoexuq1wtf	Tessier number 1-1 and 2-12 facial cleft											ICD10:Q18.8|Orphanet:155867																		owl:Class
MONDO:0020108	biolink:NamedThing	autoimmune hemolytic anemia	Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.	mondoexuq1wtf	idiopathic autoimmune hemolytic anemia|autoimmune haemolytic anaemia|AIHA|anemia, autoimmune hemolytic|familial auto-immune hemolytic anemia (subtype)|anemia hemolytic autoimmune|immuno-hemolytic anemia|AHA|autoimmune hemolytic anemia|acquired autoimmune hemolytic anemia											CSP:0427-1178|DOID:718|EFO:1001264|MESH:D000744|MedDRA:10002046|UMLS:C0002880|SCTID:413603009|ICD9:283.0|ICD10:D59.1|GARD:0005870|ICD10:D59.0|NCIT:C34378|Orphanet:98375|COHD:441269|OMIM:205700																		owl:Class
MONDO:0017195	biolink:NamedThing	Bruck syndrome	Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.	mondoexuq1wtf	osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures											ICD9:733.99|MedDRA:10063718|SCTID:254113006|Orphanet:2771|DOID:0060231|ICD10:M21.8|UMLS:C0432253																		owl:Class
MONDO:0015384	biolink:NamedThing	digestive duplication cyst of the tongue	Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.	mondoexuq1wtf	foregut duplication cyst of the tongue|gastric duplication cyst of the tongue|enteric duplication cyst of the tongue|tongue cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of tongue											Orphanet:141071|ICD10:Q38.3																		owl:Class
MONDO:0006241	biolink:NamedThing	hepatic granuloma	A granuloma located in the liver.	mondoexuq1wtf						Editor note: check neoplasm classification						ICD9:572.8|EFO:1000291|SCTID:714253009|UMLS:C0745754																		owl:Class
MONDO:0043170	biolink:NamedThing	Pavone Fiumara Rizzo syndrome		mondoexuq1wtf	Pavone Fiumara Rizzo syndrome|syndactyly type 1 with cataracts and mental retardation|syndactyly type 1 with cataracts and intellectual disability											GARD:0004262|MESH:C536313|UMLS:C2931172																		owl:Class
MONDO:0032852	biolink:NamedThing	myopathy, congenital, with structured cores and z-line abnormalities		mondoexuq1wtf	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES|Multiple Structured Core Disease|MYOCOZ											OMIM:618654																		owl:Class
MONDO:0043127	biolink:NamedThing	mehta lewis patton syndrome		mondoexuq1wtf	congenital heart disease, ptosis, hypodontia, and craniosynostosis											MESH:C536147|UMLS:C2931120|GARD:0003450																		owl:Class
MONDO:0017999	biolink:NamedThing	fatty acid hydroxylase-associated neurodegeneration	Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.	mondoexuq1wtf	FAHN											GARD:0010810|Orphanet:329308|ICD10:G23.0																		owl:Class
MONDO:0012910	biolink:NamedThing	age-related hearing impairment 1		mondoexuq1wtf	age-related hearing impairment 1|presbycusis 1|ARHI1											UMLS:C2676230|OMIM:612448|MESH:C567305																		owl:Class
MONDO:0014962	biolink:NamedThing	intellectual disability, autosomal recessive 57	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive 57|autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7|mental retardation, autosomal recessive type 57|MRT57|mental retardation, autosomal recessive 57|MBOAT7 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 57											OMIM:617188|UMLS:C4310673																		owl:Class
MONDO:0017588	biolink:NamedThing	nail tumor	A neoplasm involving a nail.	mondoexuq1wtf	nail neoplasm (disease)|nail tumor|tumor of nail|nail neoplasm|rare nail tumor|neoplasm of nail											Orphanet:300515																		owl:Class
MONDO:0016493	biolink:NamedThing	variant of Guillain-Barre syndrome		mondoexuq1wtf	variant of GBS|variant of Guillain-Barré syndrome											UMLS:CN201495|Orphanet:231413|ICD10:G61.0																		owl:Class
MONDO:0024356	biolink:NamedThing	primary central sleep apnea syndrome		mondoexuq1wtf	primary central sleep apnea											SCTID:9741000119101|ICD10:G47.31|ICD9:327.21|UMLS:C0751762																		owl:Class
MONDO:0008268	biolink:NamedThing	polydactyly-myopia syndrome	Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	postaxial polydactyly-progressive myopia syndrome|Czeizel Brooser syndrome|polydactyly, postaxial, with progressive myopia|polydactyly myopia syndrome|polydactyly-myopia syndrome|Czeizel-Brooser syndrome|PMS|postaxial polydactyly with progressive myopia											ICD9:625.4|ICD10:Q87.2|GARD:0004413|SCTID:82639001|OMIM:174310|Orphanet:2917|MESH:C536331														https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome				owl:Class
MONDO:0044737	biolink:NamedThing	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction		mondoexuq1wtf	autosomal recessive complex SPG due to Kennedy pathway dysfunction											Orphanet:506353																		owl:Class
MONDO:0003687	biolink:NamedThing	endocardium cancer	A malignant neoplasm involving the endocardium.	mondoexuq1wtf	malignant endocardium neoplasm|malignant tumor of the endocardium|malignant endocardial neoplasm|malignant endocardial tumor|malignant neoplasm of endocardium|malignant tumor of endocardium|malignant neoplasm of the endocardium|cancer of endocardium|endocardium cancer											DOID:5877|NCIT:C4570|UMLS:C0346612|SCTID:363436001																		owl:Class
MONDO:0014530	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 18	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.	mondoexuq1wtf	autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|spinocerebellar ataxia, autosomal recessive type 18|SCAR18|autosomal recessive spinocerebellar ataxia type 18|GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency											OMIM:616204|ICD10:G11.1|Orphanet:363432|DOID:0080042|UMLS:C4015505																		owl:Class
MONDO:0018189	biolink:NamedThing	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	mondoexuq1wtf												Orphanet:363429|UMLS:CN204693|ICD10:G11.1																		owl:Class
MONDO:0009397	biolink:NamedThing	neonatal severe primary hyperparathyroidism	Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.	mondoexuq1wtf	Nsph|hyperparathyroidism, neonatal severe primary|neonatal severe hyperparathyroidism|NSHPT|hyperparathyroidism, neonatal severe											OMIM:239200|Orphanet:417|GARD:0002838|NCIT:C131853|UMLS:C1832615|ICD10:E21.0|SCTID:715218009|MESH:C563375																		owl:Class
MONDO:0013250	biolink:NamedThing	autosomal recessive nonsyndromic deafness 85	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 85|DFNB85|deafness, autosomal recessive 85|autosomal recessive deafness 85											OMIM:613392|ICD10:H90.3|UMLS:C3160740|DOID:0110531																		owl:Class
MONDO:0012382	biolink:NamedThing	hyperinsulinemic hypoglycemia, familial, 4	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.	mondoexuq1wtf	hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|HHF4|hyperinsulinemic hypoglycemia due to HADH deficiency|HADH hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinemic hypoglycemia, familial, 4											UMLS:C1864948|OMIM:609975|UMLS:C4303473|SCTID:721236002|DOID:0070215|MESH:C566493																		owl:Class
MONDO:0007819	biolink:NamedThing	solitary median maxillary central incisor syndrome	A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.	mondoexuq1wtf	Fused incisors|single central maxillary incisor|solitary median maxillary central incisor syndrome|solitary MEDIAN maxillary central incisor|SMMCI syndrome|incisors fused|incisors, Fused|SMMCI|single upper central incisor											Orphanet:2286|ICD10:K00.2|SCTID:707609006|OMIM:147250|GARD:0004877|MESH:C537342																		owl:Class
MONDO:0011720	biolink:NamedThing	spermatogenic failure 3	Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.	mondoexuq1wtf	azoospermia caused by mutation in SLC26A8|spermatogenic failure type 3|spermatogenic failure 3|SLC26A8 azoospermia|SPGF3											UMLS:C1847540|OMIM:606766|MESH:C564665|DOID:0070168																		owl:Class
MONDO:0013273	biolink:NamedThing	chromosome 16p13.3 duplication syndrome	16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.	mondoexuq1wtf	distal duplication 16p|distal trisomy 16p|chromosome 16p13.3 duplication syndrome|chromosome 16p13.3 duplication|16p13.3 microduplication syndrome|16p13.3 duplication|telomeric duplication 16p|trisomy 16pter|interstitial 16p13.3 duplication|dup(16)(p13.3)											SCTID:733473000|UMLS:C3150708|ICD10:Q92.3|UMLS:C4518796|Orphanet:96078|OMIM:613458|GARD:0010755|DOID:0060431														https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication				owl:Class
MONDO:0016949	biolink:NamedThing	partial duplication of the short arm of chromosome 16	Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	Duplication 16p|chromosome 16p duplication|partial trisomy of the short arm of chromosome 16|16p trisomy|partial trisomy of chromosome 16p|partial duplication of the short arm of chromosome type 16|partial duplication of chromosome 16p|trisomy 16p|16p duplication|partial trisomy 16p											Orphanet:262794|UMLS:C0795861|GARD:0005315																		owl:Class
MONDO:0013180	biolink:NamedThing	asthma-related traits, susceptibility to, 8		mondoexuq1wtf	Rhinoconjunctivitis, susceptibility to|asthma-related traits, susceptibility to, 8|ASRT8|asthma-RELATED traits, susceptibility to, 8											OMIM:613207																		owl:Class
MONDO:0008723	biolink:NamedThing	very long chain acyl-CoA dehydrogenase deficiency	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.	mondoexuq1wtf	very long-chain acyl-Coenzyme A dehydrogenase deficiency|VLCADD|acyl-CoA dehydrogenase, very long-chain deficiency|VLCAD deficiency|ACADVLD|acyl-CoA dehydrogenase, very long-chain, deficiency OF|very long-chain acyl-CoA dehydrogenase deficiency|VLCAD											OMIM:201475|GARD:0005508|SCTID:237997005|DOID:0080155|NCIT:C98647|UMLS:C3887523|Orphanet:26793|ICD10:E71.3|ICD10:E71.310																		owl:Class
MONDO:0020434	biolink:NamedThing	atrial septal defect, ostium secundum type		mondoexuq1wtf	ostium secundum ASD|ASD ostium secundum type|osASD|ostium secundum atrial septal defect|ASD, ostium secundum type											Orphanet:99103|MedDRA:10031303|MedDRA:10031302|ICD10:Q21.1|GARD:0005865|COHD:434467																		owl:Class
MONDO:0016889	biolink:NamedThing	partial deletion of the short arm of chromosome 7	Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial deletion of chromosome 7p|partial monosomy of chromosome 7p|monosomy 7p|partial deletion of the short arm of chromosome type 7|7p monosomy|chromosome 7p deletion|partial monosomy of the short arm of chromosome 7|deletion 7p|7p deletion|partial monosomy 7p											Orphanet:261911|GARD:0001346|ICD10:Q93.5																		owl:Class
MONDO:0013811	biolink:NamedThing	combined oxidative phosphorylation defect type 9	Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.	mondoexuq1wtf	COXPD9|combined oxidative phosphorylation deficiency type 9|MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 9|combined oxidative phosphorylation deficiency caused by mutation in MRPL3											DOID:0111472|UMLS:C3281234|Orphanet:319509|OMIM:614582|SCTID:763209008|ICD10:I42.2																		owl:Class
MONDO:0001262	biolink:NamedThing	African histoplasmosis	An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.	mondoexuq1wtf	large form histoplasmosis|Histoplasma capsulatum var. duboisii disease or disorder|infection by Histoplasma duboisii|Histoplasma duboisii infection|Histoplasma capsulatum var. duboisii caused disease or disorder|African histoplasmosis|Histoplasma capsulatum var. duboisii infectious disease											SCTID:78511005|UMLS:C0220977|ICD9:115.10|DOID:11315																		owl:Class
MONDO:0001585	biolink:NamedThing	hallucinogen abuse	A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.	mondoexuq1wtf												SCTID:74851005|ICD10:F16.1|ICD9:305.3|DOID:12797																		owl:Class
MONDO:0013680	biolink:NamedThing	cognitive impairment with or without cerebellar ataxia		mondoexuq1wtf	CIAT|cognitive impairment with or without cerebellar ataxia											UMLS:C3280415|OMIM:614306																		owl:Class
MONDO:0040503	biolink:NamedThing	blepharocheilodontic syndrome 2	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.	mondoexuq1wtf	BCDS2|BLEPHAROCHEILODONTIC syndrome 2|blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|CTNND1 blepharo-cheilo-odontic syndrome											UMLS:C4540127|OMIM:617681|DOID:0080346																		owl:Class
MONDO:0044991	biolink:NamedThing	upper digestive tract disease	A disease or disorder that involves the upper digestive tract.	mondoexuq1wtf	disorder of upper gastrointestinal tract|disease or disorder of upper digestive tract|disorder of upper digestive tract|disease of upper digestive tract|upper gastrointestinal tract disease|upper digestive tract disease or disorder											SCTID:119291004																		owl:Class
MONDO:0014940	biolink:NamedThing	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		mondoexuq1wtf	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP|NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset											UMLS:C4310693|OMIM:617145																		owl:Class
MONDO:0004043	biolink:NamedThing	ureter inverted papilloma	A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	mondoexuq1wtf	inverted papilloma of ureter|inverted papilloma of the ureter|ureteral inverted papilloma|ureter inverted papilloma											UMLS:C1336874|DOID:6935|NCIT:C6174																		owl:Class
MONDO:0018554	biolink:NamedThing	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.	mondoexuq1wtf												Orphanet:431353|EFO:0009199|UMLS:CN237555																		owl:Class
MONDO:0012778	biolink:NamedThing	celiac disease, susceptibility to, 9		mondoexuq1wtf	celiac disease, susceptibility to, 9|gluten-sensitive enteropathy, susceptibility to, 9|CELIAC9											OMIM:612007																		owl:Class
MONDO:0025369	biolink:NamedThing	Nairobi sheep disease	An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.	mondoexuq1wtf	disease, Nairobi sheep|sheep disease, Nairobi											UMLS:C0027345|MESH:D009265|SCTID:24069003																		owl:Class
MONDO:0009340	biolink:NamedThing	non-spherocytic hemolytic anemia due to hexokinase deficiency	Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.	mondoexuq1wtf	hexokinase deficiency hemolytic anemia|hemolytic anemia, nonspherocytic, due to hexokinase deficiency|nonspherocytic hemolytic anemia due to hexokinase deficiency											MESH:C562995|ICD10:D55.2|Orphanet:90031|OMIM:235700|GARD:0003672														https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency				owl:Class
MONDO:0013228	biolink:NamedThing	spondylo-megaepiphyseal-metaphyseal dysplasia		mondoexuq1wtf	SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia											MESH:C567639|UMLS:C2750066|OMIM:613330|ICD10:Q77.7|Orphanet:228387																		owl:Class
MONDO:0004714	biolink:NamedThing	atrophic muscular disease	A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.	mondoexuq1wtf	atrophic muscular disorder											DOID:913|NCIT:C84574																		owl:Class
MONDO:0015203	biolink:NamedThing	coronary artery congenital malformation		mondoexuq1wtf												Orphanet:1081|ICD10:Q24.5|MedDRA:10061060																		owl:Class
MONDO:0009988	biolink:NamedThing	retinoschisis of fovea		mondoexuq1wtf	familial foveal retinoschisis|retinoschisis of fovea|foveal retinoschisis											UMLS:C1849397|OMIM:268080|GARD:0009143|MESH:C538369														https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea				owl:Class
MONDO:0043885	biolink:NamedThing	eye infectious disease	An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.	mondoexuq1wtf	infection, ocular|infections, ocular|infections, eye|ocular infection|infection, eye|eye infection|ocular infections											SCTID:128351009|UMLS:C0015403|MESH:D015817|NCIT:C45372																		owl:Class
MONDO:0004564	biolink:NamedThing	thyroid malformation	An anatomic abnormality of the thyroid gland.	mondoexuq1wtf	thyroid gland malformation											NCIT:C27331|DOID:8433																		owl:Class
MONDO:0024609	biolink:NamedThing	vulvar squamous cell carcinoma	An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)	mondoexuq1wtf	vulvar epidermoid carcinoma|vulva epidermoid cell carcinoma|mammalian vulva squamous cell carcinoma|epidermoid cell carcinoma of vulva|vulva epidermoid carcinoma|vulvar squamous cell cancer|vulvar squamous cell carcinoma|vulvar epidermoid cell carcinoma|vulva squamous cell carcinoma|squamous cell carcinoma of vulva|epidermoid carcinoma of vulva|epidermoid cell carcinoma of the vulva|epidermoid carcinoma of the vulva|squamous cell carcinoma of the vulva											EFO:1000624|NCIT:C4052|Orphanet:494448|UMLS:C0280856|DOID:2101|SCTID:254895003																		owl:Class
MONDO:0016366	biolink:NamedThing	maternal phenylketonuria	Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.	mondoexuq1wtf	hyperphenylalaninemic embryopathy|maternal PKU|maternal hyperphenylalaninemia|phenylketonuric embryopathy											ICD10:E70.1|GARD:0003413|Orphanet:2209																		owl:Class
MONDO:0019603	biolink:NamedThing	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	mondoexuq1wtf												UMLS:CN206455|SCTID:722111004|ICD10:Q87.5|Orphanet:91133																		owl:Class
MONDO:0015409	biolink:NamedThing	isolated congenital syngnathia	Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.	mondoexuq1wtf	isolated congenital maxillomandibular fusion											Orphanet:141214|ICD10:Q67.4|SCTID:763317002																		owl:Class
MONDO:0012041	biolink:NamedThing	MUTYH-related attenuated familial adenomatous polyposis	An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.	mondoexuq1wtf	MAP|MYH-associated polyposis|familial adenomatous polyposis 2|autosomal recessive familial adenomatous polyposis|MUTYH-related attenuated familial polyposis coli|autosomal recessive multiple colorectal adenomas|familial adenomatous polyposis, type 2|familial adenomatous polyposis, 2|colorectal adenomatous polyposis, autosomal recessive|adenomas, multiple colorectal, autosomal recessive|MUTYH-related AFAP|FAP2|MAP syndrome|MUTYH-associated polyposis|MUTYH-related attenuated FAP											Orphanet:247798|OMIM:608456|UMLS:C1837991|NCIT:C96520|ICD10:D12.6|MESH:C563924|GARD:0010805														https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis				owl:Class
MONDO:0004513	biolink:NamedThing	adult pleomorphic rhabdomyosarcoma	An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.	mondoexuq1wtf	adult pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of adults											UMLS:C1332211|DOID:8251|ICDO:8901/3|NCIT:C27369																		owl:Class
MONDO:0014140	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14		mondoexuq1wtf	MDDGA14|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|muscle-eye-brain-GMPPB related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14											UMLS:C3809216|DOID:0111233|OMIM:615350																		owl:Class
MONDO:0004948	biolink:NamedThing	B-cell chronic lymphocytic leukemia	B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.	mondoexuq1wtf	B cell chronic lymphocytic leukemia|B cell lymphocytic leukemia|B-cell CLL|hematopoeitic - chronic lymphocytic leukemia (CLL)|B-CLL|CLL|chronic lymphocytic leukemia|B-cell chronic lymphogenous leukemia|B cell CLL|BCLL|B-cell chronic lymphocytic leukemia|chronic lymphogenous leukemia|small lymphocytic lymphoma|chronic B-cell lymphocytic leukemia|leukemia, lymphocytic, chronic|leukemia, chronic LYMPHOCYTIC|lymphoplasmacytic leukemia|B-cell lymphocytic leukemia|chronic lymphatic leukemia|leukemia, chronic lymphatic|B-cell chronic lymphoid leukemia|chronic lymphocytic leukemia (CLL)											MESH:D015451|GARD:0006104|DOID:1040|UMLS:C0023434|ICD10:C91.10|UMLS:C0855095|OMIM:151400|Orphanet:67038|MedDRA:10008958|ICD9:204.1|NCIT:C3163|ICD10:C91.1|EFO:0000095																		owl:Class
MONDO:0006047	biolink:NamedThing	pancreatic adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the pancreas	mondoexuq1wtf	adenocarcinoma - pancreas|pancreas adenocarcinoma|adenocarcinoma of pancreas|adenocarcinoma of the pancreas|pancreatic adenocarcinoma|PAAD											ONCOTREE:PAAD|NCIT:C8294|UMLS:C0281361|SCTID:700423003|EFO:1000044|DOID:4074																		owl:Class
MONDO:0012091	biolink:NamedThing	autosomal recessive nonsyndromic deafness 32	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.	mondoexuq1wtf	autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|CDC14A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 32|DFNB105|deafness, autosomal recessive 105|autosomal recessive nonsyndromic deafness type 105|autosomal recessive deafness 32|deafness, autosomal recessive type 105|autosomal recessive nonsyndromic deafness type 32|DFNB32|autosomal recessive nonsyndromic deafness 105											DOID:0110491|OMIM:608653|OMIM:616958|DOID:0110466|UMLS:C4310777|MESH:C563884|ICD10:H90.3|UMLS:C1837608																		owl:Class
MONDO:0004120	biolink:NamedThing	Bartholin gland small cell carcinoma	A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.	mondoexuq1wtf	Bartholin's gland small cell carcinoma|major vestibular gland small cell carcinoma|small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma											UMLS:C1511051|NCIT:C40298|DOID:7140																		owl:Class
MONDO:0002829	biolink:NamedThing	bartholin gland carcinoma	A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.	mondoexuq1wtf	bartholin gland carcinoma|carcinoma of the Bartholin's gland|Bartholin's gland cancer|carcinoma of major vestibular gland|carcinoma of Bartholin's gland|Bartholin gland carcinoma (disease)|Bartholin gland cancer|Bartholin's gland carcinoma|major vestibular gland carcinoma											NCIT:C9055|UMLS:C0349561|DOID:3999|EFO:1000103|SCTID:276876007|DOID:60003|HP:0030419																		owl:Class
MONDO:0033653	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 18		mondoexuq1wtf	MC4DN18											OMIM:619062																		owl:Class
MONDO:0002785	biolink:NamedThing	skull base neoplasm	A benign or malignant neoplasm that affects the skull base.	mondoexuq1wtf	neoplasm of the skull base|basicranium neoplasm|neoplasm of basicranium|basicranium tumor|skull base tumor|tumor of the skull base|tumors of skull base|tumor of basicranium|skull base cancer|tumor of skull base|skull base neoplasm|neoplasm of skull base|basicranium neoplasm (disease)											DOID:3842|NCIT:C4676|UMLS:C0376527|MESH:D019292																		owl:Class
MONDO:0004686	biolink:NamedThing	lattice corneal dystrophy		mondoexuq1wtf	lattice corneal dystrophy|familial amyloid neuropathy, Finnish type|lattice corneal dystrophy (disease)		lattice corneal dystrophy (disease)			Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II						SCTID:1192004|ICD9:357.4|UMLS:C0155127|ICD9:277.39|DOID:8943|HP:0001149																		owl:Class
MONDO:0007158	biolink:NamedThing	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.	mondoexuq1wtf	Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis, distal, type 2B|arthrogryposis ophthalmoplegia retinopathy|oculomelic amyoplasia|distal arthrogryposis type 5|arthrogryposis, distal, type 5|DA5|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome|distal arthrogryposis with ophthalmoplegia|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|distal arthrogryposis type IIB|arthrogryposis with oculomotor limitation and electroretinal abnormalities											UMLS:C1862472|SCTID:715217004|Orphanet:1154|OMIM:108145|GARD:0004047|ICD10:Q68.8														https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5				owl:Class
MONDO:0042498	biolink:NamedThing	Ruzicka-Goerz-Anton syndrome		mondoexuq1wtf	ichthyosis deafness intellectual disability skeletal anomalies|Ruzicka Goerz Anton syndrome|ichthyosis deafness mental retardation skeletal anomalies|ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma											MESH:C537192|UMLS:C2931438|GARD:0000210																		owl:Class
MONDO:0019269	biolink:NamedThing	ichthyosis	Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.	mondoexuq1wtf	fish skin disease|fish scale disease|ichthyosis (disease)|ichthyosis|ichthyoses|non-syndromic ichthyosis		ichthyosis (disease)			Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails.						NCIT:C84776|Orphanet:79354|DOID:1697|MedDRA:10021198|MESH:D007057|HP:0008064|UMLS:C0020757														https://github.com/monarch-initiative/mondo/pull/2110				owl:Class
MONDO:0005490	biolink:NamedThing	large artery stroke	Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.	mondoexuq1wtf						Editor note: check this						EFO:0005524																		owl:Class
MONDO:0019012	biolink:NamedThing	Carpenter syndrome	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.	mondoexuq1wtf	acrocephalopolysyndactyly type II|Carpenter syndrome|Carpenter 's syndrome|acrocephalopolysyndactyly type 2|type II Acrocephalopolysyndactyly|acrocephalosyndactyly, type II|ACPS2											NCIT:C98873|UMLS:CN229565|Orphanet:65759|ICD10:Q87.0|SCTID:403767009|GARD:0006003|OMIMPS:201000|UMLS:C1275078|DOID:0060234																		owl:Class
MONDO:0014890	biolink:NamedThing	PERCHING syndrome	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.	mondoexuq1wtf	CRISPONI/cold-induced sweating syndrome 3|PERCHING|cold-induced sweating syndrome caused by mutation in KLHL7|KLHL7 cold-induced sweating syndrome|Crisponi/cold-induced sweating syndrome 3|cold-induced sweating syndrome type 3|cold-induced sweating syndrome 3|CISS3|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities											UMLS:C4310742|OMIM:617055|DOID:0080331																		owl:Class
MONDO:0003287	biolink:NamedThing	central nervous system leiomyoma	A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.	mondoexuq1wtf	central nervous system leiomyoma|leiomyoma of the central nervous system|leiomyoma of CNS|leiomyoma of central nervous system|leiomyoma of the CNS											NCIT:C6998|UMLS:C1334382|DOID:5126																		owl:Class
MONDO:0021134	biolink:NamedThing	acquired factor X deficiency	An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.	mondoexuq1wtf	acquired factor X deficiency											SCTID:33820001|NCIT:C131626|UMLS:C0272328|ICD9:286.9																		owl:Class
MONDO:0020599	biolink:NamedThing	acquired coagulation factor deficiency	Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.	mondoexuq1wtf	acquired coagulation factor deficiency|acquired coagulation protein disease											NCIT:C34347|SCTID:25904003|UMLS:C0001169																		owl:Class
MONDO:0044070	biolink:NamedThing	candidemia	A form of invasive candidiasis where species of candida are present in the blood.	mondoexuq1wtf	candidemia|Candidemias											MESH:D058387|UMLS:C0877445|SCTID:432261003|EFO:1001311																		owl:Class
MONDO:0002436	biolink:NamedThing	nasal disorder	A disease involving the nose.	mondoexuq1wtf	nose disease|disorder of nose|disease of nose|nasal disorder|disease or disorder of nose|disorder of the nose|nose disease or disorder											MESH:D009668|SCTID:89488007|UMLS:C0028432|DOID:2825|ICD9:478.19|COHD:4229909																		owl:Class
MONDO:0014864	biolink:NamedThing	hypermanganesemia with dystonia 2	Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.	mondoexuq1wtf	hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2; HMNDYT2|hypermanganesemia with dystonia 2|HMNDYT2|SLC39A14 hypermanganesemia with dystonia											DOID:0080537|SCTID:768554008|UMLS:C4310765|OMIM:617013|Orphanet:521406																		owl:Class
MONDO:0019978	biolink:NamedThing	Robinow syndrome	Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	mondoexuq1wtf	mesomelic dwarfism-small genitalia syndrome|Covesdem syndrome (formerly)|acral dysostosis with facial and genital abnormalities|fetal face syndrome|Robinow dwarfism|costovertebral segmentation defect with mesomelia (formerly)|Robinow-Silverman-Smith syndrome											NCIT:C85048|GARD:0000312|Orphanet:97360|OMIMPS:268310|ICD10:Q87.1|UMLS:CN776872|DOID:0060254|UMLS:C0265205																		owl:Class
MONDO:0017881	biolink:NamedThing	Kyasanur forest disease	Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.	mondoexuq1wtf	Kyasanur forest disease virus infectious disease|monkey fever|KFD virus|KFD|Kyasanur hemorrhagic fever|Kyasanur forest disease virus caused disease or disorder|monkey disease|Kyasanur forest disease virus disease or disorder											ICD9:065.2|MedDRA:10023505|UMLS:C0022810|GARD:0008257|Orphanet:319254|DOID:11320|MESH:D007733|SCTID:23097003|ICD10:A98.2														https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease				owl:Class
MONDO:0005763	biolink:NamedThing	Flaviviridae infectious disease	Infections with viruses of the family flaviviridae.	mondoexuq1wtf	Flaviviridae disease or disorder|Flaviviridae caused disease or disorder											MESH:D018178|SCTID:111865007|EFO:0007274																		owl:Class
MONDO:0013637	biolink:NamedThing	primary biliary cholangitis 5		mondoexuq1wtf	PBC5|biliary cirrhosis, primary, 5											OMIM:614221|UMLS:C3280202																		owl:Class
MONDO:0013264	biolink:NamedThing	amyotrophic lateral sclerosis type 12	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.	mondoexuq1wtf	OPTN amyotrophic lateral sclerosis|ALS12|amyotrophic lateral sclerosis 12|amyotrophic lateral sclerosis caused by mutation in OPTN|amyotrophic lateral sclerosis type 12											UMLS:C3150692|DOID:0060203|OMIM:613435																		owl:Class
MONDO:0043069	biolink:NamedThing	Zerres Rietschel Majewski syndrome		mondoexuq1wtf	postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability											MESH:C536724|UMLS:C2931301|GARD:0000338																		owl:Class
MONDO:0002630	biolink:NamedThing	small cell osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.	mondoexuq1wtf	SCOS|round cell osteosarcoma|small cell osteosarcoma											UMLS:C0279622|ICDO:9185/3|NCIT:C4023|DOID:3377|ONCOTREE:SCOS																		owl:Class
MONDO:0014532	biolink:NamedThing	autosomal dominant mitochondrial myopathy with exercise intolerance		mondoexuq1wtf	myopathy, isolated mitochondrial, autosomal dominant|IMMD											Orphanet:457050|ICD10:G71.3|UMLS:C4015513|OMIM:616209																		owl:Class
MONDO:0021118	biolink:NamedThing	intestinal neoplasm	A benign or malignant neoplasm involving the small or large intestine.	mondoexuq1wtf	bowel neoplasm|intestinal benign neoplasm|intestine tumor|intestine growth|neoplasm of intestinal tract|intestinal neoplasm|neoplasm of intestine|neoplasm of the intestines|tumor of intestines|intestinal tumor|intestine neoplasm (disease)|intestinal neoplasms|tumor of the intestines|neoplasm of intestines|intestine neoplasm|tumor of intestine|intestinal tumors											SCTID:126769007|DOID:4610|ONCOTREE:BOWEL|NCIT:C3141																		owl:Class
MONDO:0001475	biolink:NamedThing	neutropenia	A decrease in the number of neutrophils found in the blood.	mondoexuq1wtf	neutropenic disorder											ICD10:D70|DOID:1227|MESH:D009503|UMLS:C0027947|ICD10:D70.9|ICD9:288.0|ICD9:288.00|SCTID:303011007																		owl:Class
MONDO:0004633	biolink:NamedThing	Hodgkin's lymphoma, mixed cellularity	A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)	mondoexuq1wtf	Mixed cellularity Classic Hodgkin lymphoma|MCHL|Hodgkin's disease, mixed cellularity of unspecified site|classic Hodgkin lymphoma, mixed cellularity type|MCCHL|mixed cellularity classical Hodgkin lymphoma|Hodgkin's disease, mixed cellularity|Hodgkin's disease mixed cellularity|mixed cellularity Hodgkin lymphoma|mixed cellularity Hodgkin's disease|mixed cellularity Hodgkin's lymphoma|Hodgkin lymphoma, mixed cellularity|Hodgkin's lymphoma mixed cellularity											Orphanet:98844|ICD10:C81.2|ICD9:201.6|NCIT:C3517|SCTID:118609008|ONCOTREE:MCCHL|ICDO:9652/3|DOID:8654|COHD:4038843																		owl:Class
MONDO:0003266	biolink:NamedThing	ependymal tumor	A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)	mondoexuq1wtf	ependymal tumor|ependymal tumors|ependymal neoplasm|ependymomal tumor											ONCOTREE:EPMT|Orphanet:301|EFO:1000027|UMLS:C1333407|NCIT:C6770|ICD10:C71.7|UMLS:CN203416																		owl:Class
MONDO:0030702	biolink:NamedThing	autoimmune atherosclerosis	An autoimmune form of atherosclerosis.	mondoexuq1wtf												DOID:0040096																		owl:Class
MONDO:0005919	biolink:NamedThing	placental insufficiency	Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.	mondoexuq1wtf	uteroplacental vascular insufficiency|insufficiency, placental											UMLS:C0032051|EFO:0007443|ICD10:O36.5|MESH:D010927|DOID:3891|ICD9:762.2|Orphanet:439167|SCTID:237292005																		owl:Class
MONDO:0007448	biolink:NamedThing	familial dermatographia	Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own.	mondoexuq1wtf	familial dermatographism|dermo-distortive urticaria|dermographism|Dermodistortive urticaria|VBU|dermatographic urticaria|vibratory urticaria|dermographism, familial|dermatographia|vibratory angioedema|Dermatographism, familial|DDU|familial dermographism											ICD9:708.3|SCTID:7632005|OMIM:125635|DOID:743|MESH:C536612|ICD10:L50.3|COHD:132983|EFO:1000685|GARD:0009480														https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism				owl:Class
MONDO:0006599	biolink:NamedThing	physical urticaria	A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.	mondoexuq1wtf						Editor note: use ECTO to axiomatize						SCTID:402601007|EFO:1000754|DOID:0060220																		owl:Class
MONDO:0005186	biolink:NamedThing	cocaine dependence	A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.	mondoexuq1wtf	cocaine addiction											NCIT:C34492|SCTID:31956009|DOID:9975|ICD9:304.2|ICD10:F14.2|ICD9:304.20|EFO:0002610																		owl:Class
MONDO:0010579	biolink:NamedThing	X-linked corneal dermoid	X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	mondoexuq1wtf	CND|Guízar Vázquez-Luengas-muñoz syndrome|dermoids of cornea|Guizar-Vazquez Luengas-Munoz syndrome|corneal dystrophy epithelial-short stature syndrome|corneal dermoids and short stature|bilateral corneal dermoids											MESH:C535376|OMIM:304730|Orphanet:1661|UMLS:C1844671|GARD:0002580|ICD10:Q13.4|SCTID:715426004														https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea				owl:Class
MONDO:0013014	biolink:NamedThing	spondyloepimetaphyseal dysplasia, aggrecan type	Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia, aggrecan type|SEMD, aggrecan type|SEMDAG											ICD10:Q77.7|MESH:C567558|Orphanet:171866|OMIM:612813|SCTID:719165004|UMLS:C2748544|GARD:0010513														https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type				owl:Class
MONDO:0016547	biolink:NamedThing	Beckwith-Wiedemann syndrome due to NSD1 mutation		mondoexuq1wtf												Orphanet:238613|UMLS:CN201629|ICD10:Q87.3																		owl:Class
MONDO:0007534	biolink:NamedThing	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.	mondoexuq1wtf	Wiedemann-Beckwith syndrome (WBS)|Wiedemann-Beckwith syndrome|exomphalos-macroglossia-gigantism syndrome|EMG syndrome|Beckwith-Wiedemann syndrome|BWS|Beckwith-Wiedemann syndrome chromosome region|exomphalos macroglossia gigantism syndrome											Orphanet:116|UMLS:C0004903|GARD:0003343|DOID:5572|NCIT:C34415|OMIM:130650|ICD9:759.89|MESH:D001506|ICD10:Q87.3|MedDRA:10050344|SCTID:81780002														https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome				owl:Class
MONDO:0020767	biolink:NamedThing	cauda equina syndrome with neurogenic bladder	A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.	mondoexuq1wtf	Cauda equina syndrome with neurogenic bladder|cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder											UMLS:C0007459|SCTID:12454008|ICD9:344.61|NCIT:C34453																		owl:Class
MONDO:0005693	biolink:NamedThing	cauda equina syndrome	Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.	mondoexuq1wtf	cauda equina syndromic disease|syndromic disease of cauda equina											NCIT:C35436|UMLS:C0392548|ICD9:344.6|SCTID:192970008|GARD:0010987|ICD10:G83.4|DOID:11577|EFO:0007196|COHD:4102342														https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome				owl:Class
MONDO:0017389	biolink:NamedThing	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.	mondoexuq1wtf	BH4-responsive hyperphenylalaninemia/phenylketonuria|tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive HPA/PKU											Orphanet:293284|ICD10:E70.1																		owl:Class
MONDO:0017906	biolink:NamedThing	amyloidosis cutis dyschromia	Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	mondoexuq1wtf	amyloidosis cutis dyschromica											Orphanet:319635|ICD10:L99.0*|ICD10:E85.4+																		owl:Class
MONDO:0015301	biolink:NamedThing	primary cutaneous amyloidosis	Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.	mondoexuq1wtf	amyloidosis familial cutaneous lichen|amyloidosis, primary localized cutaneous|primary localized cutaneous amyloidosis|PLCA|lichen amyloidosis familial|familial primary localized cutaneous amyloidosis|amyloidosis IX											GARD:0000132|UMLS:C0268397|Orphanet:137807|MedDRA:10011659|MESH:C562642|ICD10:E85.4+|ICD10:L99.0*|SCTID:282834007|DOID:0050639														https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis				owl:Class
MONDO:0041447	biolink:NamedThing	metastatic malignant neoplasm in the colon	The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.	mondoexuq1wtf	metastatic malignant neoplasm in the colon|metastatic neoplasm to the colon|metastatic tumor to the colon|metastatic malignant neoplasm to the colon											NCIT:C8411|UMLS:C0346974																		owl:Class
MONDO:0012194	biolink:NamedThing	aneurysm, intracranial berry, 3		mondoexuq1wtf	ANIB3|aneurysm, intracranial BERRY, 3											UMLS:C1836757|MESH:C563792|OMIM:609122																		owl:Class
MONDO:0004429	biolink:NamedThing	skin meningioma	A meningioma (disease) that involves the zone of skin.	mondoexuq1wtf	meningioma (disease) of zone of skin|primary meningioma of the skin|zone of skin meningioma (disease)											UMLS:C1335481|DOID:8006																		owl:Class
MONDO:0009216	biolink:NamedThing	glycogen storage disease due to GLUT2 deficiency	Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.	mondoexuq1wtf	glycogen storage disease 11|pseudo-phlorizin diabetes|glycogen storage disease XI|Bickel-Fanconi glycogenosis|glycogen storage disease type XI|glycogenosis Fanconi EXACT|glycogen storage disease due to GLUT2 deficiency|GSD type 11|Fanconi-Bickel disease|glycogenosis due to GLUT2 deficiency|FBS|Fanconi syndrome with intestinal malabsorption and galactose intolerance|glycogenosis, Fanconi type|hepatic glycogenosis with Fanconi nephropathy|Fanconi-Bickel syndrome|Fanconi Bickel syndrome|hepatorenal glycogenosis with renal fanconi syndrome|glycogen storage disease type 11|hepatorenal glycogenosis with renal Fanconi syndrome|GSD type XI|GSD due to GLUT2 deficiency|GLUT2 deficiency|hepatic glycogenosis with amino aciduria and glucosuria											Orphanet:2088|SCTID:61598006|GARD:0002268|OMIM:227810|ICD10:E74.0														https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome				owl:Class
MONDO:0003611	biolink:NamedThing	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.	mondoexuq1wtf	uterine ligament papillary cystadenoma|uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease											UMLS:C3642324|DOID:5726|NCIT:C40142																		owl:Class
MONDO:0012578	biolink:NamedThing	autism, susceptibility to, 13		mondoexuq1wtf	autism, susceptibility to, 13|AUTS13											OMIM:610908																		owl:Class
MONDO:0042979	biolink:NamedThing	hypokalemic periodic paralysis, type 1		mondoexuq1wtf	hypokalemic periodic paralysis, type 1|HOKPP1											OMIM:170400|UMLS:C3714580																		owl:Class
MONDO:0023079	biolink:NamedThing	epidermal nevus vitamin D resistant rickets		mondoexuq1wtf												GARD:0002136														https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets				owl:Class
MONDO:0008970	biolink:NamedThing	chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.	mondoexuq1wtf	chondrodysplasia, Blomstrand type|Blomstrand lethal osteochondrodysplasia|Blomstrand's lethal chondrodysplasia|BOCD|Blomstrand chondrodysplasia|Blomstrand lethal chondrodysplasia|BLC|Blomstrand osteochondrodysplasia|Blomstrand type chondrodysplasia											NCIT:C131420|ICD10:Q78.8|MESH:C537914|OMIM:215045|UMLS:C1859148|DOID:0060387|Orphanet:50945|GARD:0000914														https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type				owl:Class
MONDO:0014945	biolink:NamedThing	myopathy, distal, with rimmed vacuoles		mondoexuq1wtf	myopathy, distal, with rimmed vacuoles|myopathy, distal, with rimmed vacuoles; DMRV|DMRV											OMIM:617158|UMLS:CN239822																		owl:Class
MONDO:0013651	biolink:NamedThing	intellectual disability, autosomal recessive 18	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive type 18|autosomal recessive nonsyndromic intellectual disability-18|intellectual disability, autosomal recessive 18|MRT18|mental retardation, autosomal recessive type 18|MED23 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23|MED23|autosomal recessive nonsyndromic mental retardation-18|mental retardation, autosomal recessive 18											UMLS:C3280265|OMIM:614249|GARD:0012233																		owl:Class
MONDO:0008934	biolink:NamedThing	cerebellar ataxia-ectodermal dysplasia syndrome	Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	mondoexuq1wtf	cerebellar ataxia - ectodermal dysplasia|ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia											Orphanet:1174|MESH:C535350|OMIM:212835|GARD:0001189|UMLS:C1859306|SCTID:715371006|ICD10:G11.1																		owl:Class
MONDO:0014067	biolink:NamedThing	short ulna-dysmorphism-hypotonia-intellectual disability syndrome		mondoexuq1wtf	MRT35|intellectual disability, autosomal recessive 35|mental retardation, autosomal recessive 35											UMLS:C3554609|Orphanet:357175|ICD10:Q87.8|OMIM:615162																		owl:Class
MONDO:0010661	biolink:NamedThing	severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	mondoexuq1wtf	X-linked mental retardation Gustavson type|mental retardation with optic atrophy, deafness, and seizures|X-linked intellectual disability Gustavson type|intellectual disability with optic atrophy, deafness, and seizures|gust|intellectual disability X-linked severe Gustavson type|mental retardation X-linked severe Gustavson type|Gustavson syndrome											UMLS:C0795965|SCTID:722213009|MESH:C536759|OMIM:309555|Orphanet:3078|ICD10:F72.9|GARD:0005611																		owl:Class
MONDO:0003940	biolink:NamedThing	Kummell disease	Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.	mondoexuq1wtf	avascular necrosis of a vertebral body|Kummell disease|traumatic spondylopathy|osteonecrosis of bony vertebral centrum|bony vertebral centrum osteonecrosis|Kummell's disease|Kummell's spondylitis											COHD:81665|UMLS:C0152088|ICD10:M48.3|SCTID:111232005|ICD9:721.7|DOID:6603																		owl:Class
MONDO:0054847	biolink:NamedThing	epilepsy, familial adult myoclonic, 7		mondoexuq1wtf	epilepsy, FAMILIAL ADULT myoclonic, 7|benign Adult Familial myoclonic epilepsy 7|FAME7|cortical myoclonic tremor with epilepsy, Familial, 7											UMLS:CN252654|DOID:0111694|OMIM:618075																		owl:Class
MONDO:0015557	biolink:NamedThing	Smouldering systemic mastocytosis	Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.	mondoexuq1wtf												ICD10:C96.2|Orphanet:158775																		owl:Class
MONDO:0007100	biolink:NamedThing	familial amyloid neuropathy	Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.	mondoexuq1wtf	familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|transthyretin amyloidosis|Corino de Andrade's disease|amyloid cardiomyopathy, transthyretin-related|amyloidosis, leptomeningeal, transthyretin-related|transthyretin amyloid neuropathy|familial amyloid polyneuropathy|familial amyloid polyneuropathy type I|TTR amyloidosis|transthyretin amyloid polyneuropathy|TTR amyloid neuropathy|amyloid polyneuropathy, familial|amyloidosis transthyretin related|transthyretin-related hereditary amyloidosis|hereditary amyloidosis, transthyretin-related|amyloidosis, hereditary, transthyretin-related|ATTRV30M amyloidosis|familial transthyretin amyloidosis|paramyloidosis|ATTRV30M-related amyloidosis|amyloid Neuropathies, familial											DOID:0050638|GARD:0000656|UMLS:C0206245|UMLS:C2751492|ICD10:E85.1+|ICD10:G63.3*|NCIT:C84554|EFO:0004129|MESH:C567782|Orphanet:85447|ICD9:277.39|SCTID:42295001|OMIM:105210|DOID:0050761																		owl:Class
MONDO:0020658	biolink:NamedThing	infiltrating ureter transitional cell carcinoma		mondoexuq1wtf												DOID:6845																		owl:Class
MONDO:0003168	biolink:NamedThing	cerebellar pilocytic astrocytoma	A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.	mondoexuq1wtf	pilocytic astrocytoma of the cerebellum|cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum|cerebellar pilocytic astrocytoma											NCIT:C6809|DOID:4853|UMLS:C0349620|SCTID:277507004																		owl:Class
MONDO:0016691	biolink:NamedThing	pilocytic astrocytoma	Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	mondoexuq1wtf	pilocytic astrocytoma|grade I astrocytoma|Piloid astrocytoma|grade I astrocytic tumor|astrocytoma, pilocytic, benign|grade I astrocytic neoplasm|astrocytoma, benign											ICD10:C71.9|ONCOTREE:PAST|ICDO:9421/1|NCIT:C4047|SCTID:763865009|DOID:4851|UMLS:C0334583|GARD:0009808|ICD10:C79.1|Orphanet:251612																		owl:Class
MONDO:0017866	biolink:NamedThing	subpulmonary stenosis		mondoexuq1wtf												SCTID:448476001|ICD10:Q24.3|UMLS:C3165028|GARD:0005051|Orphanet:3190														https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis				owl:Class
MONDO:0021354	biolink:NamedThing	tumor of adipose tissue	A neoplasm (disease) that involves the adipose tissue.	mondoexuq1wtf	tumor of adipose tissue|adipose tissue tumor|neoplasm of the adipose tissue|neoplasm of adipose tissue|adipose tissue neoplasm|lipomatous tumor|lipomatous neoplasm|tumor of the adipose tissue|adipose tissue neoplasm (disease)											SCTID:254831005|NCIT:C4248|ICD9:239.2|UMLS:C0206631																		owl:Class
MONDO:0013633	biolink:NamedThing	encephalopathy, acute, infection-induced, susceptibility to, 4	Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.	mondoexuq1wtf	CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced caused by mutation in CPT2|IIAE4|encephalopathy, acute, infection-induced, susceptibility to, type 4|encephalopathy, acute, infection-induced, susceptibility to, 4											OMIM:614212																		owl:Class
MONDO:0008298	biolink:NamedThing	postaxial tetramelic oligodactyly	Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	oligodactyly tetramelic postaxial|postaxial oligodactyly, tetramelic											ICD10:Q73.8|Orphanet:2730|MESH:C566767|GARD:0004065|OMIM:176240|UMLS:C1867924														https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial				owl:Class
MONDO:0005883	biolink:NamedThing	ophthalmic herpes zoster	Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.	mondoexuq1wtf	HZO|Herpes zoster ophthalmicus (HZO)|herpes zoster ophthalmicus											EFO:0007403|MESH:D006563|UMLS:C0019364|SCTID:87513003|ICD9:053.29|COHD:372828|GARD:0009721																		owl:Class
MONDO:0014551	biolink:NamedThing	short stature with nonspecific skeletal abnormalities		mondoexuq1wtf	short stature with nonspecific skeletal abnormalities|SNSK											OMIM:616255|UMLS:C4225399																		owl:Class
MONDO:0003108	biolink:NamedThing	cervicomedullary junction neoplasm		mondoexuq1wtf	tumor of the cervicomedullary junction|neoplasm of cervicomedullary junction|tumor of cervicomedullary junction|neoplasm of the cervicomedullary junction|cervicomedullary junction neoplasms|cervicomedullary junction tumor											UMLS:C1332923|NCIT:C5423|DOID:4707																		owl:Class
MONDO:0002647	biolink:NamedThing	laryngitis	An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	mondoexuq1wtf	laryngeal inflammation|laryngeal Inflammation|inflammation of larynx|larynx inflammation											NCIT:C26811|SCTID:45913009|MESH:D007827|ICD9:464.00|DOID:3437|UMLS:C0023067																		owl:Class
MONDO:0007311	biolink:NamedThing	Charcot-Marie-Tooth disease type 1E	A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	mondoexuq1wtf	CMT 1E|Charcot-Marie-Tooth disease, demyelinating, type 1E|CMT1E|Charcot-Marie-Tooth disease and deafness|Charcot-Marie-Tooth disease-deafness syndrome|Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease-deafness|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot Marie Tooth disease type 1E											DOID:0110153|UMLS:C2931686|Orphanet:90658|MESH:C537986|ICD10:G60.0|GARD:0009190|OMIM:118300																		owl:Class
MONDO:0033619	biolink:NamedThing	myopathy, epilepsy, and progressive cerebral atrophy		mondoexuq1wtf	MEPCA											OMIM:619036																		owl:Class
MONDO:0001182	biolink:NamedThing	idiopathic corneal edema		mondoexuq1wtf												ICD9:371.21|UMLS:C0155109|COHD:377875|SCTID:1794009|DOID:11033|ICD10:H18.22																		owl:Class
MONDO:0016379	biolink:NamedThing	erosive pustular dermatosis of the scalp	Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.	mondoexuq1wtf												UMLS:C0406464|GARD:0002188|SCTID:238733003|Orphanet:222														https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp				owl:Class
MONDO:0008890	biolink:NamedThing	progressive bulbar palsy	Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.	mondoexuq1wtf	Fazio-Londe disease|bulbar palsy, progressive, of childhood|progressive bulbar atrophy											MESH:D010244|COHD:436684|EFO:0003783|DOID:681|GARD:0010928|ICD10:G12.22|NCIT:C85026|OMIM:211500|ICD9:335.22|UMLS:C0030442|SCTID:54304004|Orphanet:56965														https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy				owl:Class
MONDO:0000973	biolink:NamedThing	external ear lipoma	A benign adipose tissue neoplasm of the external ear.	mondoexuq1wtf	lipoma of the external ear|external auditory meatus lipoma|lipoma of external auditory meatus|lipoma of external ear|lipoma of the external auditory meatus|external ear lipoma|external Ear lipoma|lipoma of the external Ear|lipoma of external Ear											NCIT:C4618|ICD9:215.0|UMLS:C0347423|SCTID:188988008|DOID:10203																		owl:Class
MONDO:0021474	biolink:NamedThing	benign neoplasm of ear	A benign neoplasm that involves the ear.	mondoexuq1wtf	benign Ear tumor|benign Ear neoplasm|ear benign neoplasm|aural neoplasms, benign|benign neoplasm of the Ear|benign tumor of Ear|benign tumor of the Ear											UMLS:C0347354|NCIT:C8417|SCTID:255181009																		owl:Class
MONDO:0003066	biolink:NamedThing	submandibular adenitis	Inflammation of the submandibular lymph nodes.	mondoexuq1wtf	lymphadenitis (disease) of submandibular gland|submandibular lymphadenitis|submandibular gland lymphadenitis (disease)											UMLS:C0235591|DOID:4636|NCIT:C27016|SCTID:15170009																		owl:Class
MONDO:0006969	biolink:NamedThing	sialadenitis	Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.	mondoexuq1wtf	sialoadenitis|adenitis, salivary gland|sialitis|saliva-secreting gland lymphadenitis (disease)|salivary gland inflammation|lymphadenitis (disease) of saliva-secreting gland					Editor note: TODO check NCIT mapping						MedDRA:10040627|NCIT:C115165|SCTID:42982001|MESH:D012793|ICD10:K11.20|DOID:10303|ICD9:527.2|UMLS:C0037023|ICD10:K11.2|COHD:29056|GARD:0007638|EFO:1001179														https://rarediseases.info.nih.gov/diseases/7638/sialadenitis				owl:Class
MONDO:0007990	biolink:NamedThing	multiple benign circumferential skin creases on limbs		mondoexuq1wtf	skin creases, multiple benign ring-shaped, of limbs|Michelin tire baby syndrome|congenital circumferential skin folds|CCSF|CSCSC|circumferential skin creases, Kunze type|Kunze-Riehm syndrome|Kunze Riehm syndrome											Orphanet:2505|ICD10:Q82.8|UMLS:C0473586|GARD:0003589|MESH:C537575																		owl:Class
MONDO:0001512	biolink:NamedThing	intermittent proptosis		mondoexuq1wtf	intermittent exophthalmos											ICD10:H05.25|ICD9:376.34|UMLS:C0155270|SCTID:49774006|DOID:12363																		owl:Class
MONDO:0017261	biolink:NamedThing	systemic diseases with panuveitis		mondoexuq1wtf												UMLS:CN202779|Orphanet:280933																		owl:Class
MONDO:0010683	biolink:NamedThing	X-linked centronuclear myopathy	X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	mondoexuq1wtf	XLMTM|X-linked myotubular myopathy|MTM|myotubular myopathy, X-linked|XLCNM|CNMX|centronuclear myopathy, X-linked|myotubular myopathy 1|myopathy, centronuclear, X-linked											NCIT:C118781|OMIM:310400|UMLS:C0410203|SCTID:46804001|DOID:0111225|GARD:0011925|Orphanet:596|ICD10:G71.2																		owl:Class
MONDO:0006169	biolink:NamedThing	complex endometrial hyperplasia	A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.	mondoexuq1wtf												SCTID:198322002|UMLS:C0349578|NCIT:C35423|EFO:1000202|ICD9:621.32|COHD:198471																		owl:Class
MONDO:0005043	biolink:NamedThing	hyperplasia	An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.	mondoexuq1wtf	hyperplastic|hyperplasia											NCIT:C3113|EFO:0000536|MESH:D006965																		owl:Class
MONDO:0003345	biolink:NamedThing	hilar cholangiocarcinoma	A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.	mondoexuq1wtf	hilar portion of hepatic duct cholangiocarcinoma|perihilar cholangiocarcinoma|hilar CC|perihilar extrahepatic bile duct carcinoma|hilar cholangiocellular carcinoma|hilar cholangiocarcinoma|hilar CCA|Klatskin's tumor|Klatskin tumor|cholangiocarcinoma of hilar portion of hepatic duct											DOID:4927|EFO:1001005|GARD:0010175|ICD10:C24.0|NCIT:C36077|UMLS:C0206702|Orphanet:99978|DOID:5246|SCTID:253017000|MESH:D018285														https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor				owl:Class
MONDO:0003933	biolink:NamedThing	chest wall bone cancer	An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.	mondoexuq1wtf	malignant bone tumor of the chest wall|chest wall bone cancer|malignant bone neoplasm of the chest wall|malignant bone tumor of chest wall|bone cancer of chest wall|malignant chest wall bone neoplasm|malignant bone neoplasm of chest wall|malignant chest wall bone tumor											UMLS:C1334572|DOID:6579|NCIT:C6724																		owl:Class
MONDO:0002631	biolink:NamedThing	conventional osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	mondoexuq1wtf	conventional central osteosarcoma|conventional osteosarcoma|intracortical osteosarcoma (morphologic abnormality)|intracortical osteogenic sarcoma|intracortical osteosarcoma|medullary osteosarcoma|central osteosarcoma											ICDO:9186/3|ICDO:9195/3|DOID:3378|DOID:7602|NCIT:C35870|UMLS:C1266166																		owl:Class
MONDO:0002629	biolink:NamedThing	bone osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.	mondoexuq1wtf	bone osteosarcoma|primary osteosarcoma of bone|osteosarcoma of bone											OMIM:259500|GARD:0007284|MESH:D012516|NCIT:C53707|MedDRA:10031291|ICD10:C41.9|DOID:3376|SCTID:307576001|ICD9:170.9|Orphanet:668																		owl:Class
MONDO:0009735	biolink:NamedThing	Netherton syndrome	Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.	mondoexuq1wtf	Comel-Netherton syndrome|Netherton syndrome|CoMèl-Netherton syndrome|neth|bamboo hair syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE|NS|Ns|Netherton disease|Comèl-Netherton syndrome											MedDRA:10062909|Orphanet:634|SCTID:312514006|GARD:0007182|ICD10:Q80.8|MESH:D056770|DOID:0050474|OMIM:256500|NCIT:C84922														https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome				owl:Class
MONDO:0011234	biolink:NamedThing	auriculocondylar syndrome 1	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.	mondoexuq1wtf	question Mark ears syndrome|Auriculocondylar syndrome type 1|AURICULOCONDYLAR syndrome 1|Auriculocondylar syndrome 1|auriculocondylar syndrome caused by mutation in GNAI3|GNAI3 auriculocondylar syndrome|ARCND1											OMIM:602483																		owl:Class
MONDO:0005947	biolink:NamedThing	rickettsial pneumonia	Pneumonia caused by infection with bacteria of the family rickettsiaceae.	mondoexuq1wtf	Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia											ICD9:484.8|MESH:D011022|UMLS:C0032307|EFO:0007472|SCTID:233621003																		owl:Class
MONDO:0041850	biolink:NamedThing	pneumonia caused by gram negative bacteria		mondoexuq1wtf	pneumonia caused by gram negative bacteria|gram negative pneumonia|pneumonia due to gram negative bacteria|pneumonia caused by gram-negative bacteria|pneumonia due to gram-negative bacteria											SCTID:430395005|UMLS:C0854248																		owl:Class
MONDO:0011192	biolink:NamedThing	autosomal recessive nonsyndromic deafness 18A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.	mondoexuq1wtf	DFNB18A|autosomal recessive deafness 18A|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|deafness, autosomal recessive 18|USH1C autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 18A|deafness, autosomal recessive type 18A|autosomal recessive nonsyndromic deafness type 18A											MESH:C566580|OMIM:602092|DOID:0110473|ICD10:H90.3|UMLS:C1865870																		owl:Class
MONDO:0000457	biolink:NamedThing	classical glioblastoma	A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.	mondoexuq1wtf	classical glioblastoma|glioblastoma classical subtype											NCIT:C111694|UMLS:C3827253|DOID:0050803																		owl:Class
MONDO:0006548	biolink:NamedThing	facial dermatosis	Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.	mondoexuq1wtf												EFO:1000698|MESH:D005148|DOID:3134|UMLS:C0015456																		owl:Class
MONDO:0033369	biolink:NamedThing	developmental and epileptic encephalopathy, 60		mondoexuq1wtf	EIEE60|DEE60|epileptic encephalopathy, early infantile, 60											DOID:0080432|UMLS:CN244549|OMIM:617929																		owl:Class
MONDO:0005628	biolink:NamedThing	male breast carcinoma	A malignant neoplasm involving the male breast.	mondoexuq1wtf	male breast cancer|carcinoma of the Male breast|carcinoma of male breast|carcinoma of Male breast|neoplasm of male breast|Male breast carcinoma|breast cancer, male|Male breast cancer|male breast carcinoma|breast cancer in men|malignant neoplasm of male breast											NCIT:C3862|UMLS:C0242787|EFO:0006861|SCTID:372095001|DOID:1614|MESH:D018567|ICD9:175.9|GARD:0009312|UMLS:C0238033|UMLS:C0242788																		owl:Class
MONDO:0005552	biolink:NamedThing	ocular vascular disease	A disorder that is caused by pathologic changes in the ocular vasculature.	mondoexuq1wtf	vasculature of eye disease or disorder|disease of vasculature of eye|ocular vascular disorder|vasculature of eye disease|disorder of vasculature of eye|disease or disorder of vasculature of eye											EFO:0005753|NCIT:C35664																		owl:Class
MONDO:0006821	biolink:NamedThing	kidney papillary necrosis	A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.	mondoexuq1wtf	renal papillitis necrotizing|necrotizing renal papillitis|papillary necrosis											EFO:1001004|SCTID:90241004|DOID:2981|MESH:D007681|UMLS:C0022667|COHD:444409|ICD9:583.7|MedDRA:10028865																		owl:Class
MONDO:0004511	biolink:NamedThing	lower clivus meningioma	A meningioma that affects the lower clivus.	mondoexuq1wtf	meningioma of the lower clivus|meningioma of Lower clivus											DOID:8239|UMLS:C1334434|NCIT:C5288																		owl:Class
MONDO:0003908	biolink:NamedThing	clivus meningioma	A meningioma that affects the clivus.	mondoexuq1wtf	meningioma (disease) of clivus of occipital bone|meningioma of the clivus|clivus of occipital bone meningioma (disease)|meningioma of clivus											DOID:6517|UMLS:C1333073|NCIT:C5289																		owl:Class
MONDO:0009127	biolink:NamedThing	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone		mondoexuq1wtf	dwarfism, low-birth-weight type with unresponsiveness to growth hormone|dwarfism, low-birth-weight type, with unresponsiveness to growth hormone											MESH:C565615|GARD:0003293|UMLS:C1857197|OMIM:223500														https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone				owl:Class
MONDO:0030908	biolink:NamedThing	intellectual disability, X-linked, syndromic, 35		mondoexuq1wtf	intellectual disability, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|mental retardation, X-linked, syndromic, 35|syndromic X-linked intellectual disability 35|MRXS35											OMIM:300998|DOID:0080241																		owl:Class
MONDO:0032932	biolink:NamedThing	mitochondrial DNA depletion syndrome 18		mondoexuq1wtf	MTDPS18|MITOCHONDRIAL DNA DEPLETION SYNDROME 18											OMIM:618811																		owl:Class
MONDO:0032566	biolink:NamedThing	squalene synthase deficiency		mondoexuq1wtf	SQSD|SQUALENE SYNTHASE DEFICIENCY|Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids											OMIM:618156																		owl:Class
MONDO:0700071	biolink:NamedThing	myopathy caused by varation in POMT2	Any myopathy in which the cause of the disease is a variation in the POMT2 gene.	mondoexuq1wtf	POMT2 myopathy|myopathy caused by mutation in POMT2|POMT2-related myopathy							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0012292	biolink:NamedThing	hepatitis C virus, susceptibility to		mondoexuq1wtf	hepatitis C virus, susceptibility to|Hepatitis C Virus, resistance to|HCV, susceptibility to|HCV, resistance to|Hepatitis C Virus infection, response to therapy of											OMIM:609532|UMLS:C2750389																		owl:Class
MONDO:0023164	biolink:NamedThing	viral pericarditis	Pericarditis that is caused by an infection with a viral agent.	mondoexuq1wtf	Viral Pericarditis|Viral pericarditis|viral pericarditis											UMLS:C0276139|NCIT:C128405|SCTID:70189005																		owl:Class
MONDO:0002904	biolink:NamedThing	echolalia	A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.	mondoexuq1wtf	echolalia|echolalia (disease)		echolalia (disease)									DOID:4188|HP:0010529|MESH:D004454																		owl:Class
MONDO:0003462	biolink:NamedThing	papillary adenofibroma	A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.	mondoexuq1wtf	papillary adenofibroma											UMLS:C1377850|DOID:5479|NCIT:C8986																		owl:Class
MONDO:0006071	biolink:NamedThing	adenofibroma	A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.	mondoexuq1wtf	female reproductive system adenofibroma|adenofibroma, benign|adenofibroma, no ICD-O subtype (morphologic abnormality)|adenofibroma, no ICD-O subtype|benign mixed Muellerian tumor											DOID:2683|EFO:1000070|UMLS:C0001422|ICDO:9013/0|NCIT:C8984|MESH:D000232																		owl:Class
MONDO:0013098	biolink:NamedThing	noise induced hearing loss	A condition in which a person loses the ability to hear due to exposure to high intensity sound.	mondoexuq1wtf	noise-induced hearing loss|hearing loss, noise-induced, susceptibility to|NIHL											SCTID:73415002|MESH:D006317|COHD:440422|OMIM:613035|ICD9:388.12|EFO:1001254|NCIT:C34664																		owl:Class
MONDO:0000256	biolink:NamedThing	systemic mycosis	A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.	mondoexuq1wtf	systemic fungal infection											SCTID:399314004|UMLS:C0553576|ICD9:117.9|DOID:0050136																		owl:Class
MONDO:0001593	biolink:NamedThing	rectal disease	A disease that involves the rectum.	mondoexuq1wtf	disorder of rectum|disease or disorder of rectum|rectum disease|disease of rectum|rectal disorder|rectum disease or disorder											DOID:1285|MESH:D012002|SCTID:5964004|UMLS:C0034882|ICD9:569.49																		owl:Class
MONDO:0009253	biolink:NamedThing	Fryns syndrome	Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.	mondoexuq1wtf	diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|FRNS|Fryns syndrome|Moerman Van den Berghe Fryns syndrome											OMIM:229850|ICD9:759.89|ICD10:Q87.8|SCTID:702432006|Orphanet:2059|NCIT:C98932|UMLS:C0220730|GARD:0003699|MESH:C538070														https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome				owl:Class
MONDO:0004205	biolink:NamedThing	lymphohistiocytoid mesothelioma		mondoexuq1wtf												UMLS:C1334464|NCIT:C27779|DOID:7381																		owl:Class
MONDO:0010271	biolink:NamedThing	X-linked myotubular myopathy-abnormal genitalia syndrome	X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	mondoexuq1wtf	Xq28 contiguous gene deletion syndrome|myotubular myopathy with abnormal genital development											Orphanet:456328|OMIM:300219|UMLS:C1846169|MESH:C564561																		owl:Class
MONDO:0017007	biolink:NamedThing	partial deletion of the long arm of chromosome X		mondoexuq1wtf	partial monosomy of the long arm of chromosome X|partial deletion of chromosome Xq|partial monosomy of chromosome Xq|partial deletion of the long arm of chromosome type X											ICD10:Q99.8|Orphanet:263756																		owl:Class
MONDO:0006604	biolink:NamedThing	rosacea	A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.	mondoexuq1wtf	acne roscea|acne, erythematosa|acne rosacea											COHD:136773|SCTID:398909004|MESH:D012393|NCIT:C97136|EFO:1000760|DOID:8881|ICD10:L71.9|ICD9:695.3|UMLS:C0035854|Wikipedia:Rosacea|ICD10:L71																		owl:Class
MONDO:0004350	biolink:NamedThing	pediatric extraocular retinoblastoma	Retinoblastoma during childhood that has spread beyond the eye.	mondoexuq1wtf	childhood extraocular retinoblastoma|extraocular retinoblastoma of childhood|childhood metastatic retinoblastoma|pediatric extraocular retinoblastoma|extraocular retinoblastoma											UMLS:C1321870|NCIT:C9048|DOID:7747																		owl:Class
MONDO:0003078	biolink:NamedThing	extraocular retinoblastoma	Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.	mondoexuq1wtf	metastatic retinoblastoma|extraocular retinoblastoma											UMLS:C0278719|NCIT:C7848|DOID:4656																		owl:Class
MONDO:0020230	biolink:NamedThing	renal disease with cataract		mondoexuq1wtf												Orphanet:98646|UMLS:CN207058																		owl:Class
MONDO:0044776	biolink:NamedThing	premature ovarian failure 10	Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).	mondoexuq1wtf	premature ovarian failure 10|menopause, natural, Age At, quantitative trait locus 3|Pof10											OMIM:612885																		owl:Class
MONDO:0032717	biolink:NamedThing	amelogenesis imperfecta, type 3c		mondoexuq1wtf	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive|AI3C|AMELOGENESIS IMPERFECTA, TYPE IIIC											OMIM:618386|DOID:0111722																		owl:Class
MONDO:0013604	biolink:NamedThing	myopia 21, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.	mondoexuq1wtf	myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|MYP21|ZNF644 myopia (disease)											UMLS:C3279997|OMIM:614167																		owl:Class
MONDO:0022020	biolink:NamedThing	Boudhina Yedes Khiari syndrome	Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions	mondoexuq1wtf												MESH:C537939|UMLS:C2931668|GARD:0000945														https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome				owl:Class
MONDO:0006423	biolink:NamedThing	soft tissue chondroma	A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.	mondoexuq1wtf	chondroma of soft parts|soft tissue chondroma|extraskeletal chondroma|extraskeletal osteochondroma										MONDO:0002780	DOID:3814|EFO:1000540|UMLS:C1275277|NCIT:C9482|SCTID:404078000																		owl:Class
MONDO:0044335	biolink:NamedThing	benign soft tissue neoplasm	A non-metastasizing neoplasm that arises from the soft tissue.	mondoexuq1wtf	soft tissue neoplasm, benign|benign soft tissue tumor|benign tumor of soft tissue|benign soft tissue neoplasm|benign neoplasm of the soft tissue|benign neoplasm of soft tissue|benign tumor of the soft tissue											UMLS:C0334450|ICDO:8800/0|SCTID:92069005|NCIT:C4242																		owl:Class
MONDO:0002454	biolink:NamedThing	thyroid adenoma	A adenoma that involves the thyroid gland.	mondoexuq1wtf	thyroid adenoma (disease)|adenoma of thyroid gland|thyroid adenoma|thyroid gland adenoma		thyroid adenoma (disease)			Editor note: consider merging with follicular thyroid adenoma						HP:0000854|SCTID:255033000|DOID:2891|UMLS:C0151468																		owl:Class
MONDO:0004812	biolink:NamedThing	acute dacryoadenitis	Acute form of dacryoadenitis.	mondoexuq1wtf	dacryoadenitis, acute											ICD9:375.01|ICD10:H04.01|COHD:372636|DOID:952|UMLS:C0149505|SCTID:2589008																		owl:Class
MONDO:0004804	biolink:NamedThing	dacryoadenitis	Inflammation and enlargement of the lacrimal gland.	mondoexuq1wtf	inflammation of lacrimal gland|lacrimal gland inflammation											SCTID:86927009|NCIT:C26971|UMLS:C0155223|COHD:381858|ICD10:H04.0|ICD10:H04.00|ICD9:375.0|DOID:950|ICD9:375.00																		owl:Class
MONDO:0021856	biolink:NamedThing	Alsing syndrome	An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.	mondoexuq1wtf	atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality											MESH:C536588|GARD:0009213|UMLS:C2931255														https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome				owl:Class
MONDO:0100044	biolink:NamedThing	acrofrontofacionasal dysostosis 1		mondoexuq1wtf	AFFN dysostosis 1|acrofrontofacionasal dysostosis 1|acrofrontofacionasal dysostosis type 1							http://orcid.org/0000-0001-5208-3432				OMIM:201180|MESH:C538186|UMLS:C4551987																		owl:Class
MONDO:0016930	biolink:NamedThing	partial trisomy/tetrasomy of chromosome 9		mondoexuq1wtf	partial trisomy/tetrasomy of chromosome type 9|partial duplication/triplication of chromosome 9											Orphanet:262643																		owl:Class
MONDO:0045023	biolink:NamedThing	acquired adrenogenital syndrome	An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired adrenogenital syndrome											UMLS:C0237971|SCTID:190512008																		owl:Class
MONDO:0015898	biolink:NamedThing	adrenogenital syndrome	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.	mondoexuq1wtf	congenital adrenal hyperplasia|androgenital syndrome|adrenogenital disorder|adrenogenital syndrome											Orphanet:181412|MESH:D047808|ICD9:255.2|UMLS:C0302280|MedDRA:10061630|UMLS:CN200506|SCTID:267395000																		owl:Class
MONDO:0005528	biolink:NamedThing	inborn vitamin metabolic disorder	An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process.	mondoexuq1wtf	inborn vitamin metabolic process disorder|inborn error of vitamin metabolic process|vitamin metabolic disorder|rare inborn error of vitamin metabolic process											EFO:0005596|DOID:0050718																		owl:Class
MONDO:0019917	biolink:NamedThing	maternal uniparental disomy of chromosome 20	Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	mondoexuq1wtf	maternal UPD(20)|MULCHANDANI-BHOJ-CONLIN syndrome|uniparental disomy, maternal, chromosome 20|maternal uniparental disomy of chromosome type 20|UPD(20)mat|MBCS											Orphanet:96186|ICD10:Q99.8|DOID:0111714|OMIM:617352|SCTID:715735007																		owl:Class
MONDO:0000563	biolink:NamedThing	GRID2-related autosomal dominant spinocerebellar ataxia		mondoexuq1wtf	GRID2-related spinocerebellar ataxia					the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging.						DOID:0050988																		owl:Class
MONDO:0017713	biolink:NamedThing	disorder of fatty acid oxidation and ketogenesis		mondoexuq1wtf												ICD10:E71.3|UMLS:CN227183|Orphanet:309115																		owl:Class
MONDO:0022602	biolink:NamedThing	brachydactyly small stature face anomalies		mondoexuq1wtf												GARD:0000974														https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies				owl:Class
MONDO:0012464	biolink:NamedThing	cone-rod dystrophy 10	Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.	mondoexuq1wtf	cone-rod dystrophy type 10|CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy caused by mutation in SEMA4A|cone-rod dystrophy 10											MESH:C564597|OMIM:610283|UMLS:C1846529|DOID:0111017																		owl:Class
MONDO:0014811	biolink:NamedThing	cerebellar atrophy, visual impairment, and psychomotor retardation;		mondoexuq1wtf	CAVIPMR|cerebellar atrophy, visual impairment, and psychomotor retardation											UMLS:C4225172|OMIM:616875																		owl:Class
MONDO:0021943	biolink:NamedThing	tuberculoma	A tumor-like mass resulting from the enlargement of a tuberculous lesion.	mondoexuq1wtf	Tuberculoma|Tuberculomas											MESH:D014375|SCTID:15202009|UMLS:C0041295																		owl:Class
MONDO:0010763	biolink:NamedThing	spermatogenic failure, Y-linked, 1		mondoexuq1wtf	spermatogenic failure, Y-linked, 1|incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, type 2|Sertoli cell-only syndrome, type 1|SPGFY1|Sertoli cell-only syndrome, Y-linked|hypospermatogenesis|spermatogenic failure, Y-linked, type 1											OMIM:400042|DOID:0070186																		owl:Class
MONDO:0007495	biolink:NamedThing	dystonia 5	Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	mondoexuq1wtf	HPD with marked diurnal fluctuation|dystonia type 5|Dopa-responsive dystonia, autosomal dominant|dystonia 5|DYT-GCH1|dystonia, progressive, with diurnal variation|dystonia-Parkinsonism with diurnal fluctuation|Segawa syndrome, autosomal dominant|dystonia, Dopa-responsive, autosomal dominant|GTPCH1-deficient dopa-responsive dystonia|dystonia, DOPA-responsive|Dopa-responsive dystonia; Segawa syndrome AD|GTP cyclohydrolase 1-deficient dopa-responsive dystonia|DYT5a|autosomal dominant Segawa syndrome|DRD|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant dopa-responsive dystonia|GTPCH1-deficient DRD											Orphanet:98808|UMLS:CN207122|OMIM:128230|SCTID:715768000|DOID:0090043|ICD10:G24.1|GARD:0012144																		owl:Class
MONDO:0018576	biolink:NamedThing	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy		mondoexuq1wtf												ICD10:G93.4|Orphanet:436271																		owl:Class
MONDO:0012874	biolink:NamedThing	porokeratosis 6, disseminated superficial actinic type		mondoexuq1wtf	POROK6|porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial|porokeratosis 6, multiple types|porokeratosis 6, disseminated superficial actinic type											MESH:C567339|UMLS:C2676508|OMIM:612353																		owl:Class
MONDO:0019212	biolink:NamedThing	disseminated superficial actinic porokeratosis	Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.	mondoexuq1wtf												SCTID:41495000|ICD9:692.75|Orphanet:79152|GARD:0010983|ICD10:Q82.8																		owl:Class
MONDO:0013904	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|MDDGA8|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|muscle-eye-brain-POMGNT2 related|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related											UMLS:C3553813|DOID:0111231|OMIM:614830																		owl:Class
MONDO:0015988	biolink:NamedThing	multicystic dysplastic kidney	Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.	mondoexuq1wtf	multicystic renal dysplasia|MCDK											ICD9:753.19|UMLS:C3714581|Orphanet:1851|NCIT:C123031|MESH:D021782|SCTID:204962002|ICD10:Q61.4																		owl:Class
MONDO:0020655	biolink:NamedThing	juvenile ankylosing spondylitis		mondoexuq1wtf												SCTID:239805001|DOID:0040092																		owl:Class
MONDO:0021517	biolink:NamedThing	benign neoplasm of trachea	A benign neoplasm that involves the trachea.	mondoexuq1wtf	benign neoplasm of the trachea|benign tumor of trachea|benign trachea tumor|benign trachea neoplasm|benign tracheal tumor|benign tracheal neoplasm|benign tumor of the trachea|trachea benign neoplasm											ICD9:212.2|UMLS:C0153953|SCTID:92446002|ICD10:D14.2|NCIT:C3602																		owl:Class
MONDO:0002586	biolink:NamedThing	thymus cancer	A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.	mondoexuq1wtf	malignant neoplasm of thymus|malignant tumor of Thymus|cancer of the Thymus|thymic neoplasm|malignant neoplasm of the Thymus|malignant tumor of the Thymus|thymic tumor|malignant thymus neoplasm|Thymus cancer|malignant neoplasm of Thymus|cancer of thymus|thymus cancer|cancer of Thymus|malignant Thymus tumor|malignant Thymus neoplasm											NCIT:C4962|COHD:443380|UMLS:C0751552|ICD10:C37|ICD9:164.0|SCTID:363434003|DOID:3277																		owl:Class
MONDO:0006887	biolink:NamedThing	parametritis	Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.	mondoexuq1wtf	inflammation of parametrium|parametrium inflammation|pelvic cellulitis											SCTID:280483007|EFO:1001084|MESH:D010249|UMLS:C0030455|DOID:1260																		owl:Class
MONDO:0045043	biolink:NamedThing	disease of uterine broad ligament	A disease or disorder that involves the broad ligament of uterus.	mondoexuq1wtf	disease of broad ligament of uterus|disease or disorder of broad ligament of uterus|broad ligament of uterus disease|disorder of broad ligament|broad ligament of uterus disease or disorder|disorder of broad ligament of uterus											UMLS:C0404479|SCTID:237062006																		owl:Class
MONDO:0008083	biolink:NamedThing	neuronal ceroid lipofuscinosis 4B	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	mondoexuq1wtf	Kuf's disease, autosomal dominant|Kufs disease, autosomal dominant|autosomal dominant neuronal ceroid lipofuscinosis 4B|neuronal ceroid lipofuscinosis, parry type|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|neuronal ceroid lipofuscinosis type 4B|CLN4B disease|ceroid lipofuscinosis, neuronal, parry type|Kuf's disease type B|autosomal dominant Kufs disease|adult neuronal ceroid lipofuscinosis 4B|neuronal ceroid lipofuscinosis 4 parry type|CLN4B											DOID:0110720|OMIM:162350|ICD10:E75.4|UMLS:C4284284|UMLS:C1834207|NCIT:C128116|GARD:0001222|Orphanet:228343																		owl:Class
MONDO:0007687	biolink:NamedThing	graying of hair, precocious		mondoexuq1wtf	graying of hair, precocious|White hair, premature											UMLS:C1841809|MESH:C564209|OMIM:139100																		owl:Class
MONDO:0011441	biolink:NamedThing	complex regional pain syndrome type 1	Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.	mondoexuq1wtf	complex regional pain syndrome type 1|RSDS|reflex neurovascular dystrophy|RND|reflex sympathetic dystrophy syndrome|CRPS1|Algodystrophy|Complex regional pain syndrome I|CRPS I|reflex sympathetic dystrophy											NCIT:C85042|DOID:1811|Orphanet:99995|MedDRA:10064334|OMIM:604335|ICD9:337.21|EFO:1001147|SCTID:50642008|UMLS:C0034931|ICD10:M89.0|ICD9:337.29|ICD9:337.20|ICD9:733.7|MedDRA:10038249|MESH:D012019|ICD9:337.2|ICD10:G90.5																		owl:Class
MONDO:0030979	biolink:NamedThing	endove syndrome, limb-brain type		mondoexuq1wtf	ENDOVESLB|Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies											OMIM:619218																		owl:Class
MONDO:0013626	biolink:NamedThing	psoriasis 14, pustular	Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.	mondoexuq1wtf	psoriasis 14, pustular|GPP|acrodermatitis continua suppurativa of Hallopeau|psoriasis caused by mutation in IL36RN|acrodermatitis continua of Hallopeau|DITRA|IL36RN psoriasis|deficiency of the interleukin-36 receptor antagonist|PSORP|familial generalized pustular psoriasis|Interleukin 36 receptor antagonist deficiency|generalized pustular psoriasis|palmoplantar pustulosis|PSORS14|deficiency of IL-36Ra|deficiency of IL-36R antagonist											ICD9:696.1|SCTID:83839005|UMLS:CN226196|UMLS:CN199965|GARD:0012819|NCIT:C119057|Orphanet:404546|ICD10:L40.2|Orphanet:247353|Orphanet:163931|DOID:0080474|OMIM:614204|SCTID:238612002|ICD10:L40.1														https://github.com/monarch-initiative/mondo/issues/2829				owl:Class
MONDO:0002087	biolink:NamedThing	peritoneum cancer	A malignant neoplasm involving the peritoneum	mondoexuq1wtf	malignant neoplasm of peritoneum|cancer of peritoneum|peritoneum cancer|peritoneal neoplasm|peritoneal cavity cancer|cancer of the peritoneum|peritoneal cancer|malignant peritoneal neoplasm|malignant peritoneum neoplasm											UMLS:C0153467|ICD9:158.9|NCIT:C3538|SCTID:363492001|ICD10:C48.1|ICD9:158.8|ICD9:159.8|DOID:1725																		owl:Class
MONDO:0015285	biolink:NamedThing	Carney complex	Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.	mondoexuq1wtf	CNC|atrial myxoma with lentigines|Myxoma - spotty pigmentation - endocrine overactivity|Carney syndrome|lamb syndrome|nevi, atrial myxoma, skin myxoma, ephelides syndrome|Carney Complex, type 1|Myxoma-spotty pigmentation-endocrine overactivity syndrome|Carney's syndrome|lamb|lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|Carney Complex, type 2|NAME syndrome											UMLS:C0406810|DOID:0050471|SCTID:733491005|NCIT:C4705|ICD10:D44.8|GARD:0001119|Orphanet:1359|MESH:D056733																		owl:Class
MONDO:0001833	biolink:NamedThing	lacrimal duct obstruction	Blockage of the tear duct.	mondoexuq1wtf	blocked lacrimal canaliculus|obstruction of lacrimal canaliculus|obstruction of lacrimal ducts											DOID:13929|MESH:D007767|SCTID:416920000																		owl:Class
MONDO:0030989	biolink:NamedThing	spermatogenic failure 53		mondoexuq1wtf	spermatogenic failure 53|SPGF53											OMIM:619258																		owl:Class
MONDO:0019578	biolink:NamedThing	nodular lichen myxedematosus	Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.	mondoexuq1wtf	atypical tuberous myxedema of Jadassohn-Dosseker											UMLS:C4273968|SCTID:717257000|ICD10:L98.5|Orphanet:90393																		owl:Class
MONDO:0019393	biolink:NamedThing	idiopathic malabsorption due to bile acid synthesis defects	Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.	mondoexuq1wtf	idiopathic bile acid malabsorption											ICD10:K90.8|Orphanet:84065																		owl:Class
MONDO:0014411	biolink:NamedThing	myopia 24, autosomal dominant		mondoexuq1wtf	myopia 24, autosomal dominant|MYP24											OMIM:615946|UMLS:C4014762																		owl:Class
MONDO:0009408	biolink:NamedThing	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase		mondoexuq1wtf	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase											UMLS:C1855884|OMIM:240000|MESH:C565489																		owl:Class
MONDO:0014608	biolink:NamedThing	mandibulofacial dysostosis with alopecia	A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.	mondoexuq1wtf	mandibulofacial dysostosis with alopecia|MFDA											UMLS:C4225349|ICD10:Q75.4|OMIM:616367|DOID:0060365|Orphanet:443995																		owl:Class
MONDO:0006360	biolink:NamedThing	penile carcinoma	A carcinoma that arises from epithelial cells of the penis	mondoexuq1wtf	penile cancer, adult|penile cancer|cancer of penis|carcinoma of the penis|penis carcinoma|carcinoma of penis|penile carcinoma|cancer of the penis|cancer penis											NCIT:C9061|GARD:0009366|DOID:3449|EFO:1000465|SCTID:372106005																		owl:Class
MONDO:0009924	biolink:NamedThing	vitamin D-dependent rickets, type 1	Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.	mondoexuq1wtf	VDDI|VDDR-I|vitamin D dependency, type 1|vitamin D-dependency type I|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|pseudovitamin D-deficient rickets|hypocalcemic vitamin D-dependent rickets|vitamin D dependent rickets type I|pseudo vitamin-D deficient rickets|1 Alpha-hydroxylase deficiency|vitamin D-dependent rickets type 1|PDDRI|1-alpha-hydroxylase deficiency|VDDR1|vitamin D 1 Alpha-Hydroxylase deficiency											Orphanet:289157|ICD10:E55.0|SCTID:67049004|NCIT:C131073|MESH:C562688																		owl:Class
MONDO:0024299	biolink:NamedThing	vitamin D-dependent rickets		mondoexuq1wtf	VDDR											UMLS:C0221468|SCTID:68295002																		owl:Class
MONDO:0002710	biolink:NamedThing	infiltrating angiolipoma	An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.	mondoexuq1wtf	infiltrating angiolipoma|angiolipoma, infiltrating (morphologic abnormality)|angiolipoma, infiltrating											NCIT:C7449|DOID:3615|UMLS:C1305256																		owl:Class
MONDO:0007249	biolink:NamedThing	camptobrachydactyly	Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	mondoexuq1wtf	camptobrachydactyly|short foot/brachydactyly of toes, camptodactyly, brachydactyly											OMIM:114150|Orphanet:1319|MESH:C537967|GARD:0001062|ICD10:Q74.8|SCTID:733045005														https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly				owl:Class
MONDO:0010880	biolink:NamedThing	telangiectasia, hereditary hemorrhagic, type 2	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.	mondoexuq1wtf	hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related|telangiectasia hereditary hemorrhagic type 2|telangiectasia, hereditary hemorrhagic, type 2|Osler Weber Rendu syndrome type 2|hereditary hemorrhagic telangiectasia type 2|ORW2|ACVRL1 hereditary hemorrhagic telangiectasia|HHT2											OMIM:600376|GARD:0009901														https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2				owl:Class
MONDO:0004792	biolink:NamedThing	cancer of isthmus of fallopian tube	A cancer that involves the UBERON:0016632.	mondoexuq1wtf	malignant neoplasm of isthmus of fallopian tube|cancer of isthmus of fallopian tube|isthmus of fallopian tube cancer|malignant isthmus of fallopian tube neoplasm											DOID:9459|ICD9:182.1																		owl:Class
MONDO:0026045	biolink:NamedThing	prurigo nodularis	Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.	mondoexuq1wtf												GARD:0007480																		owl:Class
MONDO:0018393	biolink:NamedThing	male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.	mondoexuq1wtf												ICD10:N46|UMLS:CN225947|Orphanet:399805																		owl:Class
MONDO:0017505	biolink:NamedThing	apodia, bilateral		mondoexuq1wtf	congenital absence of foot, bilateral											Orphanet:295107|ICD10:Q72.3																		owl:Class
MONDO:0007625	biolink:NamedThing	focal epithelial hyperplasia of the oral mucosa		mondoexuq1wtf	focal epithelial hyperplasia of the oral mucosa											OMIM:136400|UMLS:C1851009|MESH:C565008																		owl:Class
MONDO:0000030	biolink:NamedThing	epilepsy, nocturnal frontal lobe		mondoexuq1wtf												OMIMPS:600513|DC:0000154																		owl:Class
MONDO:0008580	biolink:NamedThing	toes, space between first and second		mondoexuq1wtf	toes, space between first and second											OMIM:189230																		owl:Class
MONDO:0022949	biolink:NamedThing	defective apolipoprotein b-100		mondoexuq1wtf												GARD:0001720														https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100				owl:Class
MONDO:0018506	biolink:NamedThing	mesenchymal tumor of small intestine		mondoexuq1wtf	mesenchymal tumor of small bowel											UMLS:CN237511|Orphanet:423798																		owl:Class
MONDO:0003506	biolink:NamedThing	pulmonary artery choriocarcinoma	A rare choriocarcinoma that arises from a pulmonary artery.	mondoexuq1wtf	pulmonary artery syncytioma|pulmonary artery chorioepithelioma|pulmonary artery choriocarcinoma|chorioepithelioma of the pulmonary artery|syncytioma of pulmonary artery|choriocarcinoma of the pulmonary artery|chorioepithelioma of pulmonary artery|pulmonary artery choriocarcinoma (disease)|choriocarcinoma of pulmonary artery|syncytioma of the pulmonary artery											NCIT:C5381|DOID:5547|UMLS:C1335571																		owl:Class
MONDO:0010888	biolink:NamedThing	endometriosis of uterus	The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.	mondoexuq1wtf	endometriosis, myometrium|endometriosis of myometrium|adenomyosis of the uterus|uterus corpus adenomyosis|endometriosis (disease) of myometrium|adenomyosis of uterus|endometriosis interna|uterine corpus adenomyosis|adenomyosis|uterine adenomyosis|myometrium endometriosis (disease)					Editor note: NCIT does not classify as a subtype of endometriosis						ICD10:N80.0|DOID:288|NCIT:C6996|ICD9:617.0|MESH:D062788|GARD:0008156|SCTID:237115002|OMIM:600458|UMLS:C0341858|COHD:200461|EFO:1001757																		owl:Class
MONDO:0035117	biolink:NamedThing	PUM1-associated developmental disability-ataxia-seizure syndrome		mondoexuq1wtf												Orphanet:589515																		owl:Class
MONDO:0005761	biolink:NamedThing	filarial elephantiasis	Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.	mondoexuq1wtf	elephantiasis of eyelid|elephantiasis|Bancroftian filarial chyluria|Bancroftian filariasis|eyelid elephantiasis|Wuchereriasis|Bancroftian elephantiasis|Malayi tropical eosinphilia|Wuchereria Bancrofti infection											EFO:0007272|ICD10:B74.1|ICD10:B74.0|NCIT:C128360|SCTID:240820001|SCTID:14100003|ICD9:374.83|DOID:12211|MESH:D004605|MedDRA:10016675|GARD:0003321|ICD10:B74.2|Orphanet:2035																		owl:Class
MONDO:0014891	biolink:NamedThing	hyperuricemic nephropathy, familial juvenile type 4	Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.	mondoexuq1wtf	HNFJ4|hyperuricemic nephropathy, familial juvenile, 4|SEC61A1 familial juvenile hyperuricemic nephropathy|ADTKD-SEC61A1|hyperuricemic nephropathy, familial juvenile, type 4|hyperuricemic NEPHROPATHY, familial juvenile, 4|SEC61A1-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1											OMIM:617056|UMLS:C4310741																		owl:Class
MONDO:0100337	biolink:NamedThing	SEC61A1 deficiency	Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.	mondoexuq1wtf						The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy.		http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0002016	biolink:NamedThing	benign familial neonatal epilepsy	A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)	mondoexuq1wtf	familial neonatal seizures											SCTID:279953009|GARD:0002159|DOID:14777																		owl:Class
MONDO:0000412	biolink:NamedThing	neonatal period electroclinical syndrome	An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.	mondoexuq1wtf						Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29						DOID:0050702																		owl:Class
MONDO:0001774	biolink:NamedThing	posterior scleritis		mondoexuq1wtf												ICD9:379.07|UMLS:C0155357|SCTID:267660007|COHD:440732|ICD10:H15.03|DOID:13676																		owl:Class
MONDO:0018777	biolink:NamedThing	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome		mondoexuq1wtf												Orphanet:476119|UMLS:CN776826																		owl:Class
MONDO:0000303	biolink:NamedThing	conidiobolomycosis		mondoexuq1wtf	infection by Conidiobolus|Conidiobolus infectious disease|rhinoentomophthoromycosis											UMLS:C0276712|ICD9:111.8|SCTID:240783007|DOID:0050279																		owl:Class
MONDO:0000255	biolink:NamedThing	subcutaneous mycosis	A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.	mondoexuq1wtf	subcutaneous mycosis											DOID:0050135																		owl:Class
MONDO:0012414	biolink:NamedThing	neuronal ceroid lipofuscinosis 10	Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	mondoexuq1wtf	neuronal ceroid lipofuscinosis cathepsin D-deficient|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|CLN10 disease, adult (subtype)|CLN10|ceroid lipofuscinosis, neuronal, 10|ceroid lipofuscinosis, neuronal, type 10|CLN10 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis type 10|CLN10 disease, congenital (subtype)|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis caused by mutation in CTSD|Cathepsin D deficiency|CTSD neuronal ceroid lipofuscinosis|CLN10 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|ceroid lipofuscinosis neuronal Cathepsin D-deficient|CLN10 disease											OMIM:610127|DOID:0110725|ICD10:E75.4|SCTID:720831008|MESH:C566438|Orphanet:228337|GARD:0001218														https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10				owl:Class
MONDO:0012406	biolink:NamedThing	hyperparathyroidism 3		mondoexuq1wtf	hyperparathyroidism 3|hyperparathyroidism, familial isolated|HRPT3											MESH:C566450|OMIM:610071|UMLS:C1864729																		owl:Class
MONDO:0054699	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 3		mondoexuq1wtf	PRAAS3|proteasome-associated autoinflammatory syndrome 3|proteasome-associated autoinflammatory syndrome 3, digenic											OMIM:617591																		owl:Class
MONDO:0020246	biolink:NamedThing	inherited vitreoretinopathy		mondoexuq1wtf												Orphanet:98668|UMLS:C1850109|HP:0007773																		owl:Class
MONDO:0013890	biolink:NamedThing	congenital myopathy with internal nuclei and atypical cores	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	mondoexuq1wtf	myopathy, centronuclear, 4|centronuclear myopathy type 4|myopathy, centronuclear, type 4|CNM4											UMLS:C3553709|SCTID:764945007|Orphanet:319160|OMIM:614807|ICD10:G71.2																		owl:Class
MONDO:0015765	biolink:NamedThing	congenital myopathy with cores		mondoexuq1wtf												ICD10:G71.2|Orphanet:172976																		owl:Class
MONDO:0002897	biolink:NamedThing	secondary syphilis	The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.	mondoexuq1wtf	secondary syphilis of viscera or bone											DOID:4157|ICD9:091.9|COHD:437787|MESH:C536773|SCTID:240557004|NCIT:C128413|UMLS:C0343676|ICD9:091.89|UMLS:C0149985																		owl:Class
MONDO:0018607	biolink:NamedThing	combined hamartoma of the retina and retinal pigment epithelium		mondoexuq1wtf	combined hamartoma of the retina and RPE|CHR-RPE											UMLS:CN237641|UMLS:C1862062|Orphanet:440727																		owl:Class
MONDO:0001109	biolink:NamedThing	petrositis	Inflammation of petrous bone.	mondoexuq1wtf	inflammation of petrous bone|petrous part of temporal bone inflammation|chronic petrositis|acute petrositis|inflammation of petrous part of temporal bone											ICD10:H70.219|ICD10:H70.22|ICD10:H70.209|DOID:10755|ICD10:H70.20|ICD10:H70.21|MESH:D059270|COHD:81029|ICD9:383.20|ICD9:383.21|ICD10:H70.2|UMLS:C0155448|SCTID:28593007|ICD9:383.2|ICD9:383.22|ICD10:H70.229																		owl:Class
MONDO:0003878	biolink:NamedThing	malignant choroid melanoma	A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.	mondoexuq1wtf	optic choroid melanoma|malignant melanoma of the choroid|choroid malignant melanoma|choroid melanoma|malignant melanoma of choroid|melanoma (disease) of optic choroid|melanoma of choroid|choroidal melanoma|melanoma of the choroid|optic choroid melanoma (disease)										MONDO:0021436	UMLS:C0346388|NCIT:C4561|SCTID:255021005|DOID:6438																		owl:Class
MONDO:0018676	biolink:NamedThing	eosinophilic angiocentric fibrosis		mondoexuq1wtf	IgG4-related eosinophilic angiocentric fibrosis|eosinophilic angiocentric fibrosis|EAF|Sinonasal eosinophilic angiocentric fibrosis											ICD10:J39.8|GARD:0002032|Orphanet:449566														https://rarediseases.info.nih.gov/diseases/2032/eaf				owl:Class
MONDO:0001164	biolink:NamedThing	antisocial personality disorder	A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)	mondoexuq1wtf	psychopathy|asocial personality|psychopath.personality|psychopathic personality disorder|psychopathic personality|dissocial personality disorder|Sociopathy|sociopathic personality											DOID:10939|NCIT:C88413|SCTID:26665006|ICD10:F60.2|COHD:440988|MESH:D000987|ICD9:301.7																		owl:Class
MONDO:0011600	biolink:NamedThing	congenital myasthenic syndrome 4A	A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.	mondoexuq1wtf	congenital myasthenic syndrome type 4A|congenital myasthenic syndrome type Ia1, formerly|CMS1A1|congenital myasthenic syndrometype Ia1|CMS4A|Cms Ia1|congenital myasthenic syndrome 4A slow-channel|myasthenic syndrome, congenital, 4A, slow-channel|CMS Ia1|congenital myasthenic syndrome type Ia1|Cms Ia1, formerly											OMIM:605809|DOID:0110678|UMLS:C1853949																		owl:Class
MONDO:0000301	biolink:NamedThing	ophthalmomyiasis	An myiasis caused by infection with Oestrus ovis.	mondoexuq1wtf	ophthalmomyiasis|Oestrus ovis caused myiasis|ophthalmic myiasis|Oestrus ovis myiasis											SCTID:48216006|UMLS:C0027034|DOID:0050268																		owl:Class
MONDO:0005805	biolink:NamedThing	hypodermyiasis	Infestation with larvae of the genus Hypoderma, the warble fly.	mondoexuq1wtf	Oestridae disease or disorder|Oestridae caused disease or disorder|Oestridae infectious disease											EFO:0007320|DOID:12926|Orphanet:430|MESH:D007000|UMLS:C0020607																		owl:Class
MONDO:0011074	biolink:NamedThing	autosomal dominant nonsyndromic deafness 7	An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.	mondoexuq1wtf	autosomal dominant deafness 7|autosomal dominant nonsyndromic deafness type 7|DFNA7|deafness, autosomal dominant 7											ICD10:H90.3|MESH:C563321|DOID:0110591|OMIM:601412|UMLS:C1832379																		owl:Class
MONDO:0013527	biolink:NamedThing	lissencephaly 4	Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.	mondoexuq1wtf	lissencephaly type 4|lissencephaly (disease) caused by mutation in NDE1|lissencephaly 4 with microcephaly|lissencephaly 4|NDE1 lissencephaly (disease)|LIS4|lissencephaly 4, with microcephaly											OMIM:614019|UMLS:C3151461																		owl:Class
MONDO:0015204	biolink:NamedThing	microlissencephaly	Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.	mondoexuq1wtf												ICD10:Q04.3|UMLS:C1956147|Orphanet:1083																		owl:Class
MONDO:0002168	biolink:NamedThing	rectum sarcoma	A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	mondoexuq1wtf	sarcoma of rectum|rectum sarcoma|sarcoma of the rectum|rectal sarcoma											UMLS:C1335688|NCIT:C5548|DOID:1995																		owl:Class
MONDO:0006519	biolink:NamedThing	rectal cancer	A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant tumor of rectum|rectum cancer|malignant rectum neoplasm|malignant tumor of the rectum|malignant neoplasm of the rectum|cancer of rectum|carcinoma of the rectum|malignant rectum tumor|malignant rectal neoplasm|malignant rectal tumor|malignant neoplasm of rectum|carcinoma of rectum											ICD9:154.1|SCTID:363351006|DOID:1993|EFO:1000657|ICD10:C20|NCIT:C7418																		owl:Class
MONDO:0017967	biolink:NamedThing	testicular agenesis		mondoexuq1wtf	bilateral anorchia|congenital absence of testes|empty scrotum|absence of testes|anorchia											ICD10:Q55.0|GARD:0005819|SCTID:371015003|Orphanet:325124																		owl:Class
MONDO:0008064	biolink:NamedThing	nasal bones, absence of		mondoexuq1wtf	nasal bones, absence of											UMLS:C4082198|OMIM:161480|MESH:C562753																		owl:Class
MONDO:0021945	biolink:NamedThing	hearing disorder	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.	mondoexuq1wtf	disorder of hearing|hearing disorder|auditory alteration											NCIT:C3078|MESH:D006311|SCTID:128540005|UMLS:C0260662																		owl:Class
MONDO:0007425	biolink:NamedThing	deafness, sensorineural, with peripheral neuropathy and arterial disease		mondoexuq1wtf	deafness, sensorineural, with peripheral neuropathy and arterial disease											UMLS:C1852280|MESH:C565120|OMIM:124950																		owl:Class
MONDO:0004225	biolink:NamedThing	monoclonal gammopathy of uncertain significance	A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.	mondoexuq1wtf	monoclonal gammopathy, benign|monoclonal gammopathy Of undetermined significance (MGUS)|MGUS|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy of unknown significance|benign monoclonal gammopathy|monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)											ONCOTREE:MGUS|DOID:7442|MESH:D008998|UMLS:C0026470|GARD:0007034|SCTID:277577000|ICD9:238.6|SCTID:58648008|ICDO:9765/1|NCIT:C3996|EFO:1000836																		owl:Class
MONDO:0004960	biolink:NamedThing	monoclonal gammopathy	A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.	mondoexuq1wtf												NCIT:C35548|ICD10:D47.2|COHD:4002359|SCTID:109983007|EFO:0000203|MESH:D010265																		owl:Class
MONDO:0018253	biolink:NamedThing	intellectual disability-facial dysmorphism-hand anomalies syndrome		mondoexuq1wtf												UMLS:CN204829|Orphanet:370010|ICD10:Q87.0																		owl:Class
MONDO:0019239	biolink:NamedThing	inborn disorder of serine family metabolism	An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	mondoexuq1wtf	inborn serine family amino acid metabolic process disorder|rare inborn error of serine family amino acid metabolic process|inborn error of serine family amino acid metabolic process|disorder of serine or glycine metabolism|inborn disorder of serine or glycine metabolism											UMLS:CN227601|Orphanet:79194																		owl:Class
MONDO:0003329	biolink:NamedThing	ureteral obstruction	Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.	mondoexuq1wtf	ureteral obstruction (disease)|ureteral obstruction		ureteral obstruction (disease)									MESH:D014517|ICD9:593.4|HP:0006000|DOID:5199|SCTID:20018005																		owl:Class
MONDO:0009194	biolink:NamedThing	immunodeficiency 32B	A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.	mondoexuq1wtf	Epstein-Barr VIRUS, susceptibility to chronic infection by|CAEBV infection|chronic active Epstein-Barr disease|chronic active Epstein-Barr virus infection|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|monocyte and dendritic cell deficiency, autosomal recessive|chronic EBV infection syndrome|IRF8 deficiency, autosomal recessive|CEBV|immunodeficiency 32B|chronic Epstein-Barr virus infection syndrome|CAEBV syndrome|IMD32B											ICD10:B27.0|GARD:0009534|OMIM:614894|OMIM:226990|Orphanet:2566														https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection				owl:Class
MONDO:0007496	biolink:NamedThing	dystonia 12	Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.	mondoexuq1wtf	DYT-ATP1A3|dystonia type 12|rapid-onset dystonia-parkinsonism|RDP|dystonia 12|dystonic disorder caused by mutation in ATP1A3|DYT12|dystonia-Parkinsonism, rapid-onset|ATP1A3 dystonic disorder											DOID:0090056|OMIM:128235|GARD:0009628|UMLS:C1868681|SCTID:702323008|ICD10:G24.1|MESH:C538001|Orphanet:71517																		owl:Class
MONDO:0700002	biolink:NamedThing	ATP1A3-associated neurological disorder	Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.	mondoexuq1wtf	neurological disorder caused by mutation in ATP1A3|ATP1A3 related neurological disorder|ATP1A3 neurological disorder							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0001427	biolink:NamedThing	Dieulafoy lesion	Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.	mondoexuq1wtf	Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy's lesion|Dieulafoy disease|Exulceratio simplex Dieulafoy|Dieulafoy lesion (hemorrhagic) of intestine											DOID:12070|UMLS:C0341217|ICD9:537.84|ICD10:K31.82|SCTID:109558001|GARD:0010930														https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion				owl:Class
MONDO:0005949	biolink:NamedThing	roseolovirus infectious disease	Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.	mondoexuq1wtf	Roseolovirus infectious disease|Roseolovirus disease or disorder|Roseolovirus caused disease or disorder											EFO:0007474|MESH:D019349|UMLS:C0376549																		owl:Class
MONDO:0010622	biolink:NamedThing	recessive X-linked ichthyosis	Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.	mondoexuq1wtf	X linked ichthyosis|placental steroid sulfatase deficiency|steroid sulfatase deficiency disease|X-linked ichthyosis|X-linked placental steryl-sulphatase deficiency|STS deficiency|SSDD|XLI|ichthyosis, X-linked|steroid sulfatase deficiency|X-linked recessive ichthyosis|ichthyosis (disease), X-linked|X-linked ichthyosis with steryl-sulphatase deficiency|ichthyosis, X-linked, complicated|RXLI											OMIM:308100|DOID:1700|UMLS:C0079588|SCTID:3944006|MedDRA:10048063|NCIT:C84779|GARD:0007904|ICD10:Q80.1|Orphanet:461																		owl:Class
MONDO:0008477	biolink:NamedThing	spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.	mondoexuq1wtf	Jequier Kozlowski skeletal dysplasia|skeletal dysplasia Jequier-Kozlowski type|SMDK|spondylometaphyseal dysplasia, Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced|Jequier-Kozlowski syndrome|SmD, Kozlowski type|SmD Kozlowski type											GARD:0003047|OMIM:184252|Orphanet:93314|DOID:0111554|ICD10:Q77.8|MESH:C535797														https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type				owl:Class
MONDO:0032800	biolink:NamedThing	robinow syndrome, autosomal recessive 2		mondoexuq1wtf	RRS2|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2											OMIM:618529																		owl:Class
MONDO:0022946	biolink:NamedThing	deafness progressive cataract autosomal dominant		mondoexuq1wtf												GARD:0001702														https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant				owl:Class
MONDO:0011522	biolink:NamedThing	hereditary spastic paraplegia 14	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 14|spastic paraplegia 14|SPG14|hereditary spastic paraplegia type 14|spastic paraplegia 14, autosomal recessive|autosomal recessive spastic paraplegia 14											MESH:C537486|GARD:0009589|DOID:0110767|OMIM:605229|UMLS:C1854568|ICD10:G11.4|Orphanet:100995																		owl:Class
MONDO:0017915	biolink:NamedThing	pure or complex autosomal recessive spastic paraplegia		mondoexuq1wtf	Pure or complicated autosomal recessive spastic paraplegia											Orphanet:320346|ICD10:G11.4																		owl:Class
MONDO:0014968	biolink:NamedThing	encephalopathy, progressive, with amyotrophy and optic atrophy		mondoexuq1wtf	encephalopathy, progressive, with amyotrophy and optic atrophy|PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO											OMIM:617207|UMLS:C4310667																		owl:Class
MONDO:0014008	biolink:NamedThing	phosphohydroxylysinuria		mondoexuq1wtf	PHOSPHOHYDROXYLYSINURIA|Phosphohydroxylysinuria|PHLU											OMIM:615011|UMLS:C3554344																		owl:Class
MONDO:0005515	biolink:NamedThing	oral cavity cancer	A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.	mondoexuq1wtf	malignant mouth neoplasm|malignant neoplasm of anterior portion of floor of mouth|malignant neoplasm of mouth|malignant tumor of mouth|malignant tumor of the mouth|malignant mouth tumor|mouth cancer|malignant neoplasm of lateral portion of floor of mouth|malignant tumor of lateral floor of mouth|malignant neoplasm of lateral floor of mouth|malignant oral cavity neoplasm|oral cavity cancer|malignant neoplasm of oral cavity|cancer of oral cavity|malignant oral cavity tumor|malignant tumor of oral cavity|malignant neoplasm of the mouth|malignant neoplasm of floor of mouth|malignant tumor of the floor of the mouth|malignant tumor of anterior floor of mouth											ICD10:C04.9|ICD9:145.9|ICD10:C04.1|ICD9:144|ICD10:C04.0|ICD9:149.8|ICD9:145.8|ICD10:C04|COHD:25189|NCIT:C9314|ICD9:144.9|ICD9:144.0|DOID:8618|EFO:0005570|ICD9:144.1|SCTID:363505006																		owl:Class
MONDO:0021245	biolink:NamedThing	oral cavity neoplasm	A neoplasm (disease) that involves the oral cavity.	mondoexuq1wtf	mouth tumor|tumor of oral cavity|tumor of mouth|neoplasm of oral cavity|mouth neoplasm|oral cavity tumor|oral cavity neoplasm (disease)											NCIT:C7606|EFO:0003868|UMLS:C0026640|SCTID:235075007																		owl:Class
MONDO:0044998	biolink:NamedThing	carpal region disease	A disease or disorder that involves the carpal region.	mondoexuq1wtf	carpal region disease or disorder|wrist region disease|disorder of carpal region|disorder of wrist region|disease of carpal region|disease or disorder of carpal region											SCTID:128130001|UMLS:C1290872																		owl:Class
MONDO:0044990	biolink:NamedThing	hand disease	A disease or disorder that involves the manus.	mondoexuq1wtf	disease or disorder of manus|manus disease or disorder|disorder of hand|manus disease|hand disease|disorder of manus|disease of manus											UMLS:C1290871|SCTID:118933004																		owl:Class
MONDO:0001408	biolink:NamedThing	ischemic neuropathy	Neuropathy that is caused by inadequate blood supply.	mondoexuq1wtf	ischemic peripheral neuropathy											ICD9:356.9|UMLS:C0238309|DOID:1195|NCIT:C27025|SCTID:129611009																		owl:Class
MONDO:0003124	biolink:NamedThing	testicular Leydig cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.	mondoexuq1wtf	Leydig cell tumor of the testis|testicular Leydig cell tumor|testis Leydig cell tumor|Leydig cell tumor of testis|Leydig cell neoplasm of testis|Leydig cell neoplasm of the testis|testicular Leydig cell neoplasm											DOID:4756|SCTID:67871000119105|UMLS:C0863027|EFO:1000569|NCIT:C6356																		owl:Class
MONDO:0006266	biolink:NamedThing	Leydig cell tumor	A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.	mondoexuq1wtf	interstitial cell neoplasm|Leydig cell tumor, undetermined|Leydig cell tumor|interstitial cell tumor|Leydig cell neoplasm					Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor						MESH:D007984|DOID:2696|EFO:1000321|UMLS:C0023601|NCIT:C3188|ICDO:8650/1																		owl:Class
MONDO:0015854	biolink:NamedThing	supernumerary breasts		mondoexuq1wtf	accessory breasts|polymastia											ICD10:Q83.1|MedDRA:10049786|Orphanet:180182																		owl:Class
MONDO:0013862	biolink:NamedThing	immunodeficiency, common variable, 7		mondoexuq1wtf	immunodeficiency, common variable, 7|CVID7|immunodeficiency, common variable, type 7											OMIM:614699|UMLS:C3542922																		owl:Class
MONDO:0014157	biolink:NamedThing	mandibular hypoplasia-deafness-progeroid syndrome		mondoexuq1wtf	MDP syndrome|mandibular hypoplasia-hearing loss-progeroid syndrome|mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|MDPL											UMLS:C3715192|Orphanet:363649|OMIM:615381|ICD10:E34.8|GARD:0010989																		owl:Class
MONDO:0005067	biolink:NamedThing	monophasic synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.	mondoexuq1wtf	monophasic synovial sarcoma|monophasic sarcoma of synovium|monophasic sarcoma of the synovium											NCIT:C6534|EFO:0000595|UMLS:C1334801|DOID:5495																		owl:Class
MONDO:0010434	biolink:NamedThing	synovial sarcoma	Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).	mondoexuq1wtf	sarcoma, synovial, malignant|synovial sarcoma|Synovialosarcoma|SS|synovial sarcoma (disease)|sarcoma, synovial		synovial sarcoma (disease)									OMIM:300813|UMLS:C0039101|MedDRA:10042863|SCTID:302851001|NCIT:C3400|Orphanet:3273|GARD:0007721|DOID:5485|HP:0012570|ICD10:C49.9|MESH:D013584|EFO:0001376|ONCOTREE:SYNS|ICD9:171.9|ICDO:9040/3																		owl:Class
MONDO:0014596	biolink:NamedThing	lissencephaly 7 with cerebellar hypoplasia		mondoexuq1wtf	LIS7|lissencephaly 7 with cerebellar hypoplasia											OMIM:616342|UMLS:C4225359																		owl:Class
MONDO:0005344	biolink:NamedThing	hepatitis B virus infection	A viral infection caused by the hepatitis B virus.	mondoexuq1wtf	Hepatitis B virus hepatitis|Hepatitis B virus caused hepatitis|serum hepatitis|hepatitis B infection|viral Hepatitis B|Hepatitis B|chronic hepatitis B|hepatitis type B|Hepatitis B infection											MESH:D006509|ICD9:070.30|EFO:0004197|DOID:2043|UMLS:C0019163|NCIT:C3097|SCTID:66071002																		owl:Class
MONDO:0005786	biolink:NamedThing	Hepadnaviridae infectious disease	Virus diseases caused by the hepadnaviridae.	mondoexuq1wtf	Hepadnaviridae disease or disorder|Hepadnaviridae caused disease or disorder											MESH:D018347|EFO:0007301|UMLS:C0206746																		owl:Class
MONDO:0005168	biolink:NamedThing	neoplasm of immature B and T cells	A neoplasm arising from immature B and T cells	mondoexuq1wtf												EFO:0002425																		owl:Class
MONDO:0017187	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency		mondoexuq1wtf	hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form											Orphanet:276598|ICD10:E16.1																		owl:Class
MONDO:0019265	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, diazoxide-resistant focal form											ICD10:E16.1|Orphanet:79298																		owl:Class
MONDO:0010514	biolink:NamedThing	combined immunodeficiency due to moesin deficiency		mondoexuq1wtf	X-linked Moesin-associated immunodeficiency|immunodeficiency 50, X-linked recessive|immunodeficiency type 50|IMD50|Cid due to Moesin deficiency|immunodeficiency 50|MSN-related combined immunodeficiency											Orphanet:504530|UMLS:C4310812|OMIM:300988																		owl:Class
MONDO:0014931	biolink:NamedThing	Alazami-Yuan syndrome		mondoexuq1wtf	Alazami-Yuan syndrome|ALYUS|Alazami-Yuan syndrome; ALYUS											OMIM:617126|UMLS:C4310702																		owl:Class
MONDO:0005756	biolink:NamedThing	ethmoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.	mondoexuq1wtf	sinusitis of ethmoid bone|ethmoid bone sinusitis|ethmoidal sinusitis|ethmoiditis											ICD10:J32.2|UMLS:C0015029|NCIT:C34597|SCTID:18643000|EFO:0007264|MESH:D015521|DOID:9507																		owl:Class
MONDO:0009619	biolink:NamedThing	microcephaly-micromelia syndrome		mondoexuq1wtf	MIMIS|microcephaly-micromelia syndrome											Orphanet:572768|UMLS:C1855079|MESH:C565382|OMIM:251230																		owl:Class
MONDO:0007380	biolink:NamedThing	lattice corneal dystrophy type I	Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.	mondoexuq1wtf	LCDI|lattice corneal dystrophy type 1|lattice corneal dystrophy, type 1|CDL1|corneal dystrophy, lattice type 1|LCD|Biber-Haab-Dimmer dystrophy|classic lattice corneal dystrophy|corneal dystrophy, lattice type I|Lcd1											Orphanet:98964|OMIM:122200|UMLS:CN207224|GARD:0009678|UMLS:C1690006|ICD10:H18.5|MESH:C537881|SCTID:419197009																		owl:Class
MONDO:0010810	biolink:NamedThing	vitamin D hydroxylation-deficient rickets, type 1B	An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.	mondoexuq1wtf	vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|CYP2R1 vitamin D-dependent rickets, type 1|VDDR1B|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|vitamin D 25-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets, type 1B|Vitam D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1B|vitamin D hydroxylation-deficient rickets type 1b											MESH:C564005|OMIM:600081|NCIT:C131074|UMLS:C1838657																		owl:Class
MONDO:0012393	biolink:NamedThing	congenital brain dysgenesis due to glutamine synthetase deficiency		mondoexuq1wtf	congenital glutamine deficiency|glutamine synthase deficiency, congenital systemic|inherited GS deficiency|glutamine deficiency, congenital|glutamine synthetase deficiency, congenital systemic|inherited glutamine synthetase deficiency											GARD:0009848|ICD10:E72.8|UMLS:C1864910|OMIM:610015|MESH:C536832|Orphanet:71278																		owl:Class
MONDO:0017352	biolink:NamedThing	disorder of glutamine metabolism		mondoexuq1wtf												Orphanet:289841|ICD9:270.7|ICD10:E72.8|UMLS:C0342669|SCTID:190724004																		owl:Class
MONDO:0019357	biolink:NamedThing	congenital narrowing of cervical spinal canal	Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	mondoexuq1wtf	congenital stenosis of the cervical spine|congenital cervical spinal stenosis											Orphanet:831|ICD10:Q06.8																		owl:Class
MONDO:0009562	biolink:NamedThing	beta-mannosidosis	Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	mondoexuq1wtf	Beta-D-mannosidosis|beta-mannosidase deficiency|MANSB|beta-mannosidosis|lysosomal Beta-mannosidase deficiency|lysosomal beta-mannosidase deficiency|Beta-mannosidase deficiency|mannosidosis, BETA A, lysosomal											Orphanet:118|UMLS:C4048196|DOID:3633|MESH:D044905|ICD10:E77.1|GARD:0000869|OMIM:248510|ICD9:271.8|SCTID:238047006|NCIT:C84596																		owl:Class
MONDO:0016013	biolink:NamedThing	fetal methylmercury syndrome	Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.	mondoexuq1wtf	Methyl mercury antenatal exposure|Minamata disease|Methyl mercury antenatal infection											MESH:D020262|GARD:0003575|ICD10:T56.1|ICD9:759.89|SCTID:62110005|Orphanet:1917														https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome				owl:Class
MONDO:0004649	biolink:NamedThing	anaerobic pneumonia	A pneumonia caused by anaerobic bacteria.	mondoexuq1wtf	pneumonia due to anaerobes|pneumonia caused by anaerobic bacteria|pneumonia due to anaerobic bacteria											UMLS:C1443976|ICD9:482.89|ICD9:482.81|DOID:873|SCTID:409664000																		owl:Class
MONDO:0019414	biolink:NamedThing	BRESEK syndrome	X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).	mondoexuq1wtf	BRESHECK syndrome											SCTID:717945001|MESH:C564519|ICD10:Q87.8|Orphanet:85284|UMLS:C3502469																		owl:Class
MONDO:0011625	biolink:NamedThing	autosomal dominant nonsyndromic deafness 18	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.	mondoexuq1wtf	deafness, autosomal dominant 18|DFNA18|autosomal dominant deafness 18|autosomal dominant nonsyndromic deafness type 18											OMIM:606012|DOID:0110549|ICD10:H90.3|UMLS:C1853760|MESH:C565267																		owl:Class
MONDO:0024711	biolink:NamedThing	malignant mixed epithelial stromal tumor of the kidney	A mixed epithelial stromal tumor of the kidney with malignant stromal features.	mondoexuq1wtf	malignant MEST|mixed epithelial stromal tumor of the kidney, malignant|malignant mixed epithelial stromal tumor of the kidney											UMLS:C1334602|NCIT:C37265																		owl:Class
MONDO:0023076	biolink:NamedThing	eosinophilic pustular folliculitis	Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.	mondoexuq1wtf	Ofuji disease|eosinophilic folliculitis, pustular|eosinophilic folliculitis|EPF|Ofuji's disease											SCTID:95333004|MESH:C535953|GARD:0008534|UMLS:C0406305|ICD9:704.8														https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis				owl:Class
MONDO:0016521	biolink:NamedThing	muscular pseudohypertrophy-hypothyroidism syndrome	Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	mondoexuq1wtf	Kocher-Debré-Semelaigne syndrome|Kocher-DebrC)-Semelaigne syndrome|Hoffman syndrome											SCTID:716338001|Orphanet:2349|ICD10:E03.1																		owl:Class
MONDO:0044725	biolink:NamedThing	combined immunodeficiency due to GINS1 deficiency		mondoexuq1wtf	combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|IMD55|combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|immunodeficiency 55|Cid due to GINS1 deficiency											Orphanet:505227|UMLS:CN737162|OMIM:617827														https://github.com/monarch-initiative/mondo/issues/3191				owl:Class
MONDO:0019439	biolink:NamedThing	AA amyloidosis	Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.	mondoexuq1wtf	inflammatory amyloidosis|amyloidosis AA|reactive amyloidosis|secondary amyloidosis|amyloid A amyloidosis											UMLS:C3536715|UMLS:C0221014|SCTID:281034005|GARD:0010560|ICD9:277.39|Orphanet:85445|ICD10:E85.3|MedDRA:10039811|NCIT:C3818														https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa				owl:Class
MONDO:0006504	biolink:NamedThing	acquired metabolic disease	An instance of metabolic disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired metabolic disease											EFO:1000639|DOID:0060158																		owl:Class
MONDO:0026727	biolink:NamedThing	Shukla-Vernon syndrome		mondoexuq1wtf	SHUKLA-VERNON SYNDROME|SHUVER											OMIM:301029																		owl:Class
MONDO:0100018	biolink:NamedThing	adult onset pityriasis rubra pilaris	A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.	mondoexuq1wtf	adult onset PRP							http://orcid.org/0000-0001-5208-3432				GARD:0007401														https://github.com/monarch-initiative/mondo/issues/3470				owl:Class
MONDO:0020266	biolink:NamedThing	genodermatosis with ocular features		mondoexuq1wtf												Orphanet:98696																		owl:Class
MONDO:0009062	biolink:NamedThing	cystic fibrosis-gastritis-megaloblastic anemia syndrome	A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.	mondoexuq1wtf	cystic fibrosis gastritis megaloblastic anemia|Lubani-Al Saleh-Teebi syndrome|Lubani Al Saleh Teebi syndrome|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies											OMIM:219721|Orphanet:2575|SCTID:720401009|MESH:C537039|GARD:0003303																		owl:Class
MONDO:0002455	biolink:NamedThing	exocervical carcinoma	A carcinoma that arises from the squamous epithelium of the exocervix.	mondoexuq1wtf	exocervical cancer|carcinoma of the exocervix|exocervix carcinoma|carcinoma of ectocervix|carcinoma of exocervix|exocervical carcinoma|ectocervix carcinoma											DOID:2892|SCTID:372100004|UMLS:C1299238|NCIT:C7453																		owl:Class
MONDO:0030116	biolink:NamedThing	silver-russell syndrome 2		mondoexuq1wtf	silver-russell syndrome 2|SILVER-RUSSELL SYNDROME 2|SRS2|Uniparental Disomy, Maternal, Chromosome 7											OMIM:618905																		owl:Class
MONDO:0020279	biolink:NamedThing	metabolic disease with corneal opacity		mondoexuq1wtf												Orphanet:98711|UMLS:CN207082																		owl:Class
MONDO:0009063	biolink:NamedThing	ventriculomegaly-cystic kidney disease		mondoexuq1wtf	VMCKD|congenital nephrosis-cerebral ventriculomegaly syndrome|ventriculomegaly with cystic kidney disease											UMLS:C1857423|OMIM:219730|Orphanet:443988|DOID:0111625																		owl:Class
MONDO:0003379	biolink:NamedThing	rectum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of rectum|leiomyosarcoma of the rectum|rectum leiomyosarcoma|rectal leiomyosarcoma											DOID:5297|NCIT:C5549|UMLS:C1335683																		owl:Class
MONDO:0054601	biolink:NamedThing	pituitary adenoma 5, multiple types		mondoexuq1wtf	PITA5|pituitary adenoma 5, multiple types											OMIM:617540|UMLS:C4539685																		owl:Class
MONDO:0003721	biolink:NamedThing	kidney osteogenic sarcoma	An osteosarcoma arising from the kidney.	mondoexuq1wtf	osteogenic sarcoma of the kidney|kidney extraskeletal osteosarcoma|osteosarcoma of the kidney|osteosarcoma of kidney|renal osteogenic sarcoma|renal extraskeletal osteosarcoma|renal osteosarcoma|kidney osteosarcoma (disease)|kidney osteogenic sarcoma|kidney osteosarcoma|osteogenic sarcoma of kidney											UMLS:C1335747|NCIT:C6181|DOID:5983																		owl:Class
MONDO:0010176	biolink:NamedThing	orofaciodigital syndrome type 6	Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	mondoexuq1wtf	oral-Facial-digital syndrome, type 6|Joubert syndrome with oral-facial-digital syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly cleft lip palate psychomotor retardation|Váradi-Papp syndrome|polydactyly - cleft lip/palate - psychomotor retardation|OFD6|oral-facial-digital syndrome type 6|Ofds 6|Varadi-Papp syndrome|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|orofaciodigital syndrome VI|Váradi syndrome|orofaciodigital syndrome 6|Joubert syndrome with orofaciodigital defect|orofaciodigital syndrome type 6|Varadi syndrome											NCIT:C124841|Orphanet:2754|SCTID:721873007|OMIM:277170|DOID:0060376|GARD:0004412|MESH:C536531|ICD10:Q04.3|UMLS:C2745997														https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation				owl:Class
MONDO:0001612	biolink:NamedThing	carotid stenosis	A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.	mondoexuq1wtf	carotid artery stenosis|stenosis, carotid artery											HP:0100546|UMLS:C0007282|SCTID:64586002|DOID:13001|NCIT:C95804|ICD9:433.10|MESH:D016893																		owl:Class
MONDO:0008277	biolink:NamedThing	stomach polyp	A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).	mondoexuq1wtf	polyps of the stomach|gastric polyposa|gastric polyposis|gastric polyp|polyps of stomach					Editor note: consider splitting polyposis from polyp						MESH:C562464|SCTID:87252009|NCIT:C3954|COHD:4303233																		owl:Class
MONDO:0011036	biolink:NamedThing	porencephaly-cerebellar hypoplasia-internal malformations syndrome	Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	mondoexuq1wtf	porencephaly cerebellar hypoplasia internal malformations|Bonnemann Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations|Bonnemann-Meinecke syndrome											UMLS:C1832472|MESH:C536336|ICD10:Q87.8|SCTID:763821001|OMIM:601322|Orphanet:2941|GARD:0004437																		owl:Class
MONDO:0022999	biolink:NamedThing	distichiasis heart congenital anomalies		mondoexuq1wtf												GARD:0001890														https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies				owl:Class
MONDO:0011760	biolink:NamedThing	Scheie syndrome	Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	mondoexuq1wtf	MPS1-S|MPS1S|mucopolysaccharidosis type 1S|Scheie syndrome|MPS V|mucopolysaccharidosis type IS|MPS5, formerly|MPS V, formerly|mucopolysaccharidosis Is|MPSIS|mucopolysaccharidosis type V|mucopolysaccharidosis type V, formerly|MPS I S											OMIM:607016|NCIT:C61265|UMLS:C0026708|ICD10:E76.0|GARD:0012561|DOID:0060222|Orphanet:93474														https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome				owl:Class
MONDO:0001951	biolink:NamedThing	Norwegian scabies	A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.	mondoexuq1wtf	crusted scabies|seven year itch											UMLS:C0028425|DOID:14374|SCTID:128870005|GARD:0012151|NCIT:C34855																		owl:Class
MONDO:0008322	biolink:NamedThing	pseudoachondroplasia	Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.	mondoexuq1wtf	pseudoachondroplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|pseudoachondroplastic dysplasia|PSACH|Pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|Pseudoachondroplastic spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC											GARD:0004540|Orphanet:750|UMLS:C0410538|DOID:0080047|ICD10:Q77.8|NCIT:C118635|OMIM:177170|SCTID:22567005|ICD9:756.9|MESH:C535819														https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia				owl:Class
MONDO:0004611	biolink:NamedThing	soft palate cancer	A primary or metastatic malignant neoplasm that affects the soft palate.	mondoexuq1wtf	malignant neoplasm of the soft palate|malignant tumor of the soft palate|soft palate cancer|malignant soft palate neoplasm|malignant neoplasm of soft palate|malignant soft palate tumor|malignant tumor of soft palate|cancer of soft palate											NCIT:C3529|ICD10:C05.1|DOID:8578|UMLS:C0153376|SCTID:363388009|ICD9:145.3																		owl:Class
MONDO:0006402	biolink:NamedThing	salivary gland basal cell adenocarcinoma	A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.	mondoexuq1wtf	basal cell adenocarcinoma|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma of salivary gland|salivary gland basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|basal cell adenocarcinoma of the salivary gland											NCIT:C3678|EFO:1000515|ICDO:8147/3																		owl:Class
MONDO:0005828	biolink:NamedThing	listeriosis	A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.	mondoexuq1wtf	Listeria monocytogenes caused disease or disorder|infection by Listeria monocytogenes|Listeria monocytogenes infection|Listeria monocytogenes infectious disease|Listeria monocytogenes disease or disorder|Listeria infection											ICD9:027.0|ICD10:A32.8|ICD10:A32|DOID:11573|ICD10:A32.0|ICD10:A32.9|UMLS:C0023860|NCIT:C82994|COHD:438059|EFO:0007347|MedDRA:10024641|Orphanet:533|ICD10:A32.7|MESH:D008088|ICD10:A32.1|GARD:0006915																		owl:Class
MONDO:0003012	biolink:NamedThing	sarcomatoid renal cell carcinoma	A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.	mondoexuq1wtf	SRCC|sarcomatoid renal cell carcinoma|renal cell carcinoma with sarcomatoid features|sarcomatoid renal cell cancer|RCC w/ sarcomatoid features|renal cell carcinoma, spindle cell											UMLS:C1266043|ONCOTREE:SRCC|NCIT:C27893|DOID:4473|ICDO:8318/3																		owl:Class
MONDO:0100186	biolink:NamedThing	GTP cyclohydrolase I deficiency with hyperphenylalaninemia		mondoexuq1wtf	dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|HPABH4B|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|GTP cyclohydrolase I deficiency|GTPCH deficiency|hyperphenylalaninemia, BH4-deficient, B|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|hyperphenylalaninemia, Bh4-deficient, type B|GTP cyclohydrolase 1 deficiency							http://orcid.org/0000-0001-5208-3432				UMLS:C0268467|Orphanet:2102|NCIT:C141442|GARD:0002844|ICD10:E70.1|OMIM:233910|SCTID:23447005														https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency				owl:Class
MONDO:0100184	biolink:NamedThing	GTP cyclohydrolase I deficiency	A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.	mondoexuq1wtf	GTP-cyclohydrolase I deficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006228	biolink:NamedThing	gastric papillary adenocarcinoma	A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.	mondoexuq1wtf	papillary adenocarcinoma of the stomach|papillary stomach adenocarcinoma|papillary adenocarcinoma of stomach|gastric papillary adenocarcinoma|stomach papillary adenocarcinoma											NCIT:C5472|DOID:5593|UMLS:C1333785|ONCOTREE:PSTAD|EFO:1000276																		owl:Class
MONDO:0007128	biolink:NamedThing	annular erythema		mondoexuq1wtf	annular erythema											OMIM:106500|UMLS:C0234906|MESH:C562461|SCTID:200920000																		owl:Class
MONDO:0010890	biolink:NamedThing	acrocardiofacial syndrome	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	mondoexuq1wtf	CCGE|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|CCGE syndrome|acrocardiofacial syndrome|ACFS|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly											ICD10:Q87.8|GARD:0001167|MESH:C563936|Orphanet:2008|UMLS:C1838121|OMIM:600460																		owl:Class
MONDO:0007603	biolink:NamedThing	Felty syndrome	Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.	mondoexuq1wtf	splenomegaly-neutropenia-rheumatoid arthritis syndrome|Felty syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia|familial Felty's syndrome|rheumatoid arthritis, splenomegaly and neutropenia|Felty's syndrome											GARD:0008234|UMLS:C0015773|EFO:0007269|DOID:11042|NCIT:C84712|ICD10:M05.0|SCTID:57160007|ICD9:714.1|ICD10:M05.00|Orphanet:47612|OMIM:134750|COHD:81097|MedDRA:10016386|MESH:D005258														https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome				owl:Class
MONDO:0015822	biolink:NamedThing	acquired neutropenia	An instance of neutropenia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired neutropenia|immunologic neutropenia											Orphanet:178996																		owl:Class
MONDO:0005901	biolink:NamedThing	pasteurellosis	Infections with bacteria of the genus pasteurella.	mondoexuq1wtf	Pasteurella disease or disorder|Pasteurella infection|Pasteurella caused disease or disorder|Pasteurella infectious disease											MESH:D010326|UMLS:C0030636|ICD10:A28.0|COHD:436897|DOID:11055|SCTID:83172007|EFO:0007424|ICD9:027.2																		owl:Class
MONDO:0018061	biolink:NamedThing	trichodermodysplasia-dental alterations syndrome	Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	Pinheiro-Freire Maia-Miranda syndrome|Trichodermodysplasia with dental alterations|Pinheiro Freire-Maia Miranda syndrome											MESH:C537402|UMLS:C2931485|GARD:0004369|Orphanet:3353																		owl:Class
MONDO:0100001	biolink:NamedThing	alpha-gal syndrome	An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).	mondoexuq1wtf	allergic galactose-alpha-1,3-galactose disease				2018-03-13 04:40:23+00:00																									owl:Class
MONDO:0013915	biolink:NamedThing	hypogonadotropic hypogonadism 13 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.	mondoexuq1wtf	HH13|KISS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 13 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in KISS1											ICD10:E23.0|UMLS:C3541462|OMIM:614842|DOID:0090073																		owl:Class
MONDO:0002682	biolink:NamedThing	cerebral ventricle cancer	A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.	mondoexuq1wtf	intraventricular neoplasms|malignant neoplasm of brain ventricle|brain ventricle cancer|intraventricular neoplasm of brain|intraventricular neoplasm of the brain|intraventricular brain neoplasms|brain neoplasms, intraventricular|cancer of brain ventricle|intraventricular tumor of the brain|intraventricular brain neoplasm|malignant brain ventricle neoplasm|intraventricular tumor of brain|cerebral ventricle neoplasm|intraventricular brain tumor											NCIT:C2937|GARD:0006025|DOID:3541|ICD10:C71.5|EFO:0007201|ICD9:191.5|SCTID:126958000|MESH:D002551														https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer				owl:Class
MONDO:0009870	biolink:NamedThing	pili torti	Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.	mondoexuq1wtf	coarse, dry, lusterless hair which breaks off easily|twisted hair|pili torti|pili torti, Ronchese type|pili torti (disease)|pili torti, early-onset		pili torti (disease)									ICD10:Q84.1|OMIM:261900|Orphanet:2889|SCTID:17170005|HP:0003777|MESH:C562485|GARD:0004361																		owl:Class
MONDO:0020977	biolink:NamedThing	granulomatous prostatitis	An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.	mondoexuq1wtf	Granulomatous Prostatitis|granulomatous prostatitis|Granulomatous prostatitis											UMLS:C0018204|NCIT:C26789|SCTID:61500009|ICD9:601.8																		owl:Class
MONDO:0005448	biolink:NamedThing	hepatitis C induced liver cirrhosis	Liver injury resulting from hepatitis C infection.	mondoexuq1wtf												EFO:0005129																		owl:Class
MONDO:0014597	biolink:NamedThing	immunodeficiency 39	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.	mondoexuq1wtf	primary immunodeficiency disease caused by mutation in IRF7|immunodeficiency 39|immunodeficiency type 39|IRF7 primary immunodeficiency disease|IMD39											UMLS:C4225358|OMIM:616345																		owl:Class
MONDO:0017377	biolink:NamedThing	preaxial polydactyly-colobomata-intellectual disability syndrome	Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.	mondoexuq1wtf	short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer Mayer syndrome|Pfeiffer-Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities											SCTID:733088002|GARD:0004304|UMLS:C2931655|Orphanet:2921|ICD10:Q87.2|MESH:C537888																		owl:Class
MONDO:0003720	biolink:NamedThing	kidney fibrosarcoma	A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	fibrosarcoma of kidney|renal fibrosarcoma|fibrosarcoma of the kidney|kidney fibrosarcoma|kidney fibrosarcoma (disease)											DOID:5982|NCIT:C7726|UMLS:C0238208																		owl:Class
MONDO:0015448	biolink:NamedThing	mitochondrial complex III deficiency	Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).	mondoexuq1wtf	isolated coenzyme Q-cytochrome C reductase deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated complex III deficiency|isolated mitochondrial respiratory chain complex III deficiency					Editor note: check this; isolated in ORDO						ICD10:G71.3|Orphanet:1460|DOID:0111139																		owl:Class
MONDO:0004324	biolink:NamedThing	testicular fibroma	A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.	mondoexuq1wtf												DOID:7675|UMLS:C1515282|NCIT:C39951																		owl:Class
MONDO:0000376	biolink:NamedThing	respiratory system cancer	A malignant neoplasm involving the respiratory system	mondoexuq1wtf	cancer of respiratory system|malignant respiratory system neoplasm|malignant neoplasm of respiratory system|respiratory system cancer											UMLS:C3164456|ICD9:165.8|SCTID:449096009|DOID:0050615|ICD9:165.9																		owl:Class
MONDO:0005819	biolink:NamedThing	laryngeal tuberculosis	Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.	mondoexuq1wtf	tuberculous laryngitis|larynx tuberculosis											MESH:D014387|ICD9:012.31|NCIT:C26895|ICD9:012.3|EFO:0007337|SCTID:70341005|ICD9:012.32|DOID:1583|ICD10:A15.5|UMLS:C0041315|ICD9:012.30																		owl:Class
MONDO:0014486	biolink:NamedThing	intellectual disability, autosomal dominant 30	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.	mondoexuq1wtf	MRD30|mental retardation, autosomal dominant type 30|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|intellectual disability, autosomal dominant 30|autosomal dominant intellectual disability 30|autosomal dominant mental retardation 30|intellectual disability, autosomal dominant type 30|mental retardation, autosomal dominant 30|autosomal dominant non-syndromic intellectual disability 30											DOID:0070060|GARD:0013136|UMLS:C4015167|OMIM:616083																		owl:Class
MONDO:0008880	biolink:NamedThing	Bowen syndrome of multiple malformations		mondoexuq1wtf	Bowen syndrome of multiple malformations|Bowen syndrome											OMIM:211200|Orphanet:1271|UMLS:C1859404|MESH:C538164																		owl:Class
MONDO:0018794	biolink:NamedThing	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder		mondoexuq1wtf	platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|PLA2G4A-related platelet dysfunction|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS|Phospholipase A2, Group Iva, Deficiency of|GURDP											UMLS:CN776897|OMIM:618372|Orphanet:477787																		owl:Class
MONDO:0100112	biolink:NamedThing	acyl-CoA binding domain containing protein 5 deficiency	A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.	mondoexuq1wtf	acyl-CoA binding domain containing protein 5 deficiency|ACBD5 deficiency							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0019233	biolink:NamedThing	disorder of peroxisomal beta oxidation		mondoexuq1wtf	disorder of peroxisomal beta oxidation											UMLS:CN227598|Orphanet:79188|ICD10:E71.3|GARD:0012470														https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder				owl:Class
MONDO:0014326	biolink:NamedThing	nemaline myopathy 9	Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.	mondoexuq1wtf	KLHL41 nemaline myopathy|nemaline myopathy 9|NEM9|nemaline myopathy caused by mutation in KLHL41|nemaline myopathy type 9											OMIM:615731|DOID:0110929|UMLS:C3810384																		owl:Class
MONDO:0018254	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Isidor type		mondoexuq1wtf												ICD10:Q77.8|Orphanet:370015																		owl:Class
MONDO:0032644	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 3		mondoexuq1wtf	EV3|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3											OMIM:618267																		owl:Class
MONDO:0018349	biolink:NamedThing	MAN1B1-CDG	MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).	mondoexuq1wtf	carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|congenital disorder of glycosylation type II due to MAN1B1 deficiency|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|intellectual disability-truncal obesity syndrome											GARD:0012417|SCTID:733450008|UMLS:C4518783|Orphanet:397941|ICD10:E77.8														https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg				owl:Class
MONDO:0003145	biolink:NamedThing	supratentorial primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.	mondoexuq1wtf	supratent. primitive neuro. tumor|supratentorial PNET|supratentorial primitive neuroectodermal tumor|CNS/supratentorial PNET											DOID:4791|SCTID:699318007|UMLS:C1336538|ICD9:209.30|NCIT:C6968|GARD:0007366																		owl:Class
MONDO:0010699	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 5	X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	mondoexuq1wtf	Charcot-Marie-Tooth disease, X-linked recessive, type 5|Charcot-Marie-Tooth disease X-linked recessive type 5|Rosenberg-Chutorian syndrome|CMT5X|Charcot-Marie-Tooth neuropathy X-linked recessive 5|optic atrophy, polyneuropathy, and deafness|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|familial opticoacoustic nerve degeneration and polyneuropathy|Charcot-Marie-Tooth disease, X-linked recessive, 5|CMTX5|X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth neuropathy X type 5|optic atrophy, sensorineural hearing loss and polyneuropathy											DOID:0110210|UMLS:C1839566|OMIM:311070|GARD:0000114|Orphanet:99014|ICD10:G60.0|SCTID:763460007																		owl:Class
MONDO:0012407	biolink:NamedThing	pyridoxal phosphate-responsive seizures	Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.	mondoexuq1wtf	pyridoxine 5' phosphate oxidase deficiency|PNPOD|pyridoxamine 5'-oxidase deficiency|pyridoxamine 5-prime-phosphate oxidase deficiency|seizures, pyridoxine-resistant, PLP-sensitive|pyridoxal phosphate-dependent seizures|pyridoxine-5'-phosphate oxidase deficiency|pyridoxamine 5'-phosphate oxidase deficiency|PNPO deficiency|epileptic encephalopathy, neonatal, Pnpo-related|Pnpo deficiency|pyridoxal 5'-phosphate-dependent epilepsy|PNPO-related neonatal epileptic encephalopathy											MESH:C566449|Orphanet:79096|UMLS:C1864723|OMIM:610090|DOID:0111329|GARD:0010730|SCTID:724576005|ICD10:G40.8																		owl:Class
MONDO:0011943	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 2		mondoexuq1wtf	SLEN2|systemic lupus erythematosus with nephritis, susceptibility to, 2											OMIM:607966																		owl:Class
MONDO:0003643	biolink:NamedThing	giant hemangioma	A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.	mondoexuq1wtf	giant hemangioma											UMLS:C1333817|DOID:5774|NCIT:C27777																		owl:Class
MONDO:0005211	biolink:NamedThing	ovarian serous adenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.	mondoexuq1wtf	ovarian serous carcinoma|serous ovarian cancer|serous carcinoma of ovary|serous adenocarcinoma of the ovary|serous carcinoma of the ovary|serous adenocarcinoma of ovary|ovarian serous adenocarcinoma|ovary serous adenocarcinoma										MONDO:0003625	DOID:0050933|DOID:5744|ONCOTREE:SOC|EFO:0002917|NCIT:C7550																		owl:Class
MONDO:0002752	biolink:NamedThing	ovarian adenocarcinoma	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.	mondoexuq1wtf	ovary adenocarcinoma|adenocarcinoma of ovary|ovarian adenocarcinoma|adenocarcinoma of the ovary											ICD10:C56|MedDRA:10051938|NCIT:C7700|EFO:0006460|DOID:3713|Orphanet:213504																		owl:Class
MONDO:0014147	biolink:NamedThing	neuronal ceroid lipofuscinosis 13	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.	mondoexuq1wtf	ceroid lipofuscinosis, neuronal, 13|ceroid lipofuscinosis, neuronal, type 13|neuronal ceroid lipofuscinosis 13 Kufs type|CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CTSF|neuronal ceroid lipofuscinosis type 13|CLN13|ceroid lipofuscinosis, neuronal, 13, Kufs type|CLN13 disease											ICD10:E75.4|Orphanet:352709|OMIM:615362|UMLS:C3715049|DOID:0110727																		owl:Class
MONDO:0013544	biolink:NamedThing	atrial fibrillation, familial, 11	Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.	mondoexuq1wtf	atrial fibrillation, familial, 11|atrial fibrillation, familial, type 11|GJA5 familial atrial fibrillation|ATFB11|familial atrial fibrillation caused by mutation in GJA5											UMLS:C3279693|OMIM:614049																		owl:Class
MONDO:0021542	biolink:NamedThing	hemangioma of choroid	A hemangioma that involves the optic choroid.	mondoexuq1wtf	angioma of choroid|benign choroid angioma|choroid hemangioma|benign angioma of the choroid|hemangioma of the choroid|benign hemangioma of choroid|hemangioma of optic choroid|angioma of the choroid|benign angioma of choroid|optic choroid hemangioma|hemangioma, choroid, benign|choroid angioma|benign choroid hemangioma|benign hemangioma of the choroid											ICD9:228.09|NCIT:C4562|SCTID:255022003|UMLS:C0346390																		owl:Class
MONDO:0100389	biolink:NamedThing	acute myeloid leukemia, Trisomy 8	Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)	mondoexuq1wtf	AML, tri8|AML, Trisomy 8											NCIT:C162775																		owl:Class
MONDO:0008506	biolink:NamedThing	symphalangism of toes		mondoexuq1wtf	symphalangism of toes											OMIM:185600|UMLS:C1861418|MESH:C566101																		owl:Class
MONDO:0004837	biolink:NamedThing	neurofibroma of the esophagus	A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	mondoexuq1wtf	neurofibroma of esophagus|esophagus neurofibroma|esophageal neurofibroma|neurofibroma of the esophagus											NCIT:C5704|UMLS:C1333463|DOID:961																		owl:Class
MONDO:0010959	biolink:NamedThing	van den Ende-Gupta syndrome	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	mondoexuq1wtf	Marden-Walker-like syndrome|VDEGS|blepharophimosis, arachnodactyly, and congenital contractures|Van den Ende Gupta syndrome|Marden Walker like syndrome without psychomotor retardation|VAN DEN Ende-Gupta syndrome|van den Ende-Gupta syndrome|Marden Walker like syndrome|Marden-Walker-like syndrome without psychomotor retardation											DOID:0111699|SCTID:719845008|ICD10:Q87.0|GARD:0003382|MESH:C535909|OMIM:600920|UMLS:C1833136|Orphanet:2460																		owl:Class
MONDO:0000359	biolink:NamedThing	spondylocostal dysostosis	Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).	mondoexuq1wtf	costovertebral dysplasia|spondylocostal dysplasia|spondylocostal dysostosis|SCDO|Jarcho-Levin syndrome|SCD					Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations.						MESH:C537565|GARD:0010726|GARD:0006798|UMLS:CN201467|NCIT:C125598|OMIMPS:277300|DOID:0050568|GARD:0012174																		owl:Class
MONDO:0015951	biolink:NamedThing	hereditary photodermatosis	Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.	mondoexuq1wtf	genetic skin photosensitivity|genetic photosensitivity|photogénodermatose|photogenodermatosis											Orphanet:183490																		owl:Class
MONDO:0015665	biolink:NamedThing	scleromyxedema	Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.	mondoexuq1wtf	lichen myxedematosus|generalized papular and sclerodermoid|myxedematosus, lichen|generalized lichenoid papular eruption|Arndt-Gottron disease|papular mucinosis|mucinosis, papular|Scleromyxedema|scleromyxoedema|generalized papular and sclerodermoid lichen myxedematosus											ICD10:L98.5|MedDRA:10055046|SCTID:402468007|MESH:D053718|ICD9:701.8|UMLS:CN200092|UMLS:C0263390|GARD:0007615|NCIT:C85061|Orphanet:167635														https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema				owl:Class
MONDO:0018432	biolink:NamedThing	lichen myxedematosus		mondoexuq1wtf	lichen myxoedematosus|papular mucinosis|lichenoid myxedema											SCTID:111197009|ICD10:L98.5|Orphanet:402007|ICD9:701.8																		owl:Class
MONDO:0012391	biolink:NamedThing	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.	mondoexuq1wtf	progressive epilepsy with mental retardation, northern epilepsy|CLN8 disease, Northern epilepsy variant|epilepsy mental deterioration Finnish type|epilepsy, progressive, with intellectual disability|CLN8 disease, EPMR (subtype)|neuronal ceroid lipofuscinosis 8|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|progressive epilepsy-intellectual disability syndrome, Finnish type|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|CLN8 disease, late infantile (subtype)|progressive epilepsy with intellectual disability, northern epilepsy|ceroid lipofuscinosis neuronal 8|CLN8|epilepsy, progressive, with mental retardation|Northern epilepsy|neuronal ceroid lipofuscinosis, Northern epilepsy variant|EPMR|NCL, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type											ICD10:E75.4|OMIM:610003|DOID:0110724|GARD:0002163|GARD:0004010|Orphanet:1947														https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type|https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy				owl:Class
MONDO:0008645	biolink:NamedThing	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	mondoexuq1wtf	ventricular extrasystoles perodactyly Robin sequence|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence											ICD10:Q87.8|SCTID:719823007|OMIM:192445|GARD:0005472|MESH:C537497|Orphanet:3201																		owl:Class
MONDO:0017834	biolink:NamedThing	secondary hypereosinophilic syndrome		mondoexuq1wtf	secondary HES|HES-R|reactive hypereosinophilic syndrome											Orphanet:314962|ICD10:D47.5|UMLS:CN203809																		owl:Class
MONDO:0008824	biolink:NamedThing	fetal akinesia deformation sequence	Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.	mondoexuq1wtf	fetal akinesia deformation sequence|arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|fetal akinesia sequence											GARD:0009634|SCTID:401138005|OMIMPS:208150|ICD10:Q87.8|MESH:C536647|ICD9:754.89|DOID:0111375|NCIT:C129071														https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence				owl:Class
MONDO:0008616	biolink:NamedThing	twinning due to superfetation		mondoexuq1wtf	superfetation twinning|twinning due to superfetation											OMIM:191250|MESH:C566018																		owl:Class
MONDO:0017487	biolink:NamedThing	radial hemimelia, bilateral		mondoexuq1wtf	radial longitidinal meromelia, bilateral											ICD10:Q71.4|Orphanet:295071																		owl:Class
MONDO:0019671	biolink:NamedThing	radial hemimelia	Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.	mondoexuq1wtf	radial clubhand|radial ray agenesis|congenital longitudinal deficiency of the radius|radial longitidinal meromelia											SCTID:48008009|Orphanet:93321|ICD9:755.59|ICD10:Q71.4|GARD:0000225																		owl:Class
MONDO:0006970	biolink:NamedThing	sialolithiasis	A concretion in the salivary gland.	mondoexuq1wtf	Stone of salivary gland or duct|sialolith|salivary gland Stone											MedDRA:10040631|SCTID:28826002|MESH:D015494|COHD:30441|DOID:12905|EFO:1001180|ICD9:527.5|ICD10:K11.5|UMLS:C0036091																		owl:Class
MONDO:0001447	biolink:NamedThing	detrusor sphincter dyssynergia		mondoexuq1wtf	detrusor sphincter dyssynergia (disease)|detrusor sphincter dyssynergia		detrusor sphincter dyssynergia (disease)									UMLS:C0341747|SCTID:236655005|HP:0025488|ICD9:596.55|DOID:12145																		owl:Class
MONDO:0000889	biolink:NamedThing	haemophilus meningitis	Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.	mondoexuq1wtf	Haemophilus influenzae caused bacterial meningitis|Haemophilus influenzae bacterial meningitis											COHD:437538|EFO:1000955|SCTID:5900006|ICD10:G00.0|MONDO:0006775|SCTID:192643004|MedDRA:10018953|ICD9:320.0|MESH:D008583|DOID:0080179																		owl:Class
MONDO:0011756	biolink:NamedThing	Senior-Loken syndrome 4	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.	mondoexuq1wtf	NPHP4 Senior-Loken syndrome|SLSN4|Senior-Loken syndrome type 4|Senior-Loken syndrome caused by mutation in NPHP4|Senior-Loken syndrome 4|SENIOR-Loken syndrome 4											UMLS:C1846979|OMIM:606996|MESH:C537581																		owl:Class
MONDO:0012311	biolink:NamedThing	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness		mondoexuq1wtf	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness											MESH:C566507|UMLS:C1865022|OMIM:609616																		owl:Class
MONDO:0010767	biolink:NamedThing	spermatogenic failure, Y-linked, 2		mondoexuq1wtf	azoospermia, nonobstructive, Y-linked|azoospermia Factor regions|spermatogenic failure, nonobstructive, Y-linked|SPGFY2|Azf regions|spermatogenic arrest, Y-linked|oligospermia, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2|spermatogenic failure, Y-linked, type 2|oligozoospermia, nonobstructive, Y-linked											DOID:0070187|OMIM:415000|MESH:C564030																		owl:Class
MONDO:0004311	biolink:NamedThing	carcinoma of Cowper glands	A carcinoma that involves the bulbo-urethral gland.	mondoexuq1wtf	carcinoma of Cowper glands|bulbo-urethral gland carcinoma|Cowper gland carcinoma|carcinoma of bulbo-urethral gland											DOID:7632|NCIT:C39864|UMLS:C1516284																		owl:Class
MONDO:0015533	biolink:NamedThing	benign cephalic histiocytosis		mondoexuq1wtf												SCTID:255192005|ICD9:216.8|UMLS:C0347403|Orphanet:157997|ICD10:D76.3																		owl:Class
MONDO:0020112	biolink:NamedThing	vitamin B12- and folate-independent constitutional megaloblastic anemia		mondoexuq1wtf												Orphanet:98415|ICD10:D53.1|ICD10:D53.9|ICD10:D53.8|ICD10:D53.0|ICD10:D53.2																		owl:Class
MONDO:0029144	biolink:NamedThing	extraoral halitosis due to methanethiol oxidase deficiency		mondoexuq1wtf	extraoral halitosis with dimethylsulfoxiduria|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY|METHANETHIOL Oxidase Deficiency|EHMTO|MTO Deficiency											OMIM:618148																		owl:Class
MONDO:0011855	biolink:NamedThing	granular corneal dystrophy type II	Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.	mondoexuq1wtf	combined granular-lattice corneal dystrophy|ACD|granular-lattice (Avellino) corneal dystrophy|GCD2|corneal dystrophy Avellino type|combined granular-lattice corneal dystrophies|avellino corneal dystrophy|granular corneal dystrophy type 2|corneal dystrophy, AVELLINO type|granular and lattice corneal dystrophies|CGD2|granular-lattice corneal dystrophy|CDA|granular corneal dystrophy, type 2|Avellino corneal dystrophy|GCDII											ICD9:371.56|OMIM:607541|Orphanet:98963|GARD:0009278|SCTID:397568004|UMLS:C1275685|MESH:C535474|DOID:0060444|ICD10:H18.5																		owl:Class
MONDO:0011922	biolink:NamedThing	nonimmune chronic idiopathic neutropenia of adults		mondoexuq1wtf	NI-CINA|neutropenia, nonimmune chronic idiopathic, of adults|adult idiopathic neutropenia|nonimmune chronic idiopathic neutropenia of adults											UMLS:C1842930|Orphanet:2688|MESH:C564320|OMIM:607847|ICD10:D70																		owl:Class
MONDO:0016157	biolink:NamedThing	qualitative or quantitative defects of fukutin		mondoexuq1wtf												Orphanet:207122																		owl:Class
MONDO:0000345	biolink:NamedThing	Oropouche fever	A disease caused by infection with Oropouche virus.	mondoexuq1wtf	Oropouche virus disease or disorder|Oropouche virus caused disease or disorder|Oropouche virus infectious disease											DOID:0050521|SCTID:72880002|UMLS:C0276386|MEDGEN:547314																		owl:Class
MONDO:0005572	biolink:NamedThing	polycythemia due to hypoxia	Polycythemia resulting from hypoxia.	mondoexuq1wtf												UMLS:C0856818|NCIT:C27312|DOID:2835|EFO:0005805																		owl:Class
MONDO:0007656	biolink:NamedThing	Gerstmann-Straussler-Scheinker syndrome	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.	mondoexuq1wtf	subacute spongiform encephalopathy, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|GSD|cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|amyloidosis, cerebral, with spongiform encephalopathy|amyloidosis cerebral with spongiform encephalopathy|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|Gerstmann-Straussler-Scheinker disease|Gerstmann Straussler Scheinker syndrome|Gerstmann-Straussler disease|prion dementia|cerebral amyloid angiopathy, Prnp-related					Editor note: MESH considers as two diseases						OMIM:137440|DOID:4249|SCTID:67155006|GARD:0007690|MESH:C535800|MedDRA:10072075|UMLS:C0017495|ICD10:A81.82|Orphanet:356|NCIT:C84727|ICD9:046.71|ICD10:A81.8																		owl:Class
MONDO:0017527	biolink:NamedThing	polydactyly of an index finger, unilateral		mondoexuq1wtf	preaxial polydactyly type 3, unilateral											UMLS:CN203258|Orphanet:295152|ICD10:Q69.0																		owl:Class
MONDO:0002794	biolink:NamedThing	adult medulloblastoma	A medulloblastoma arising from the brain, occurring in adults.	mondoexuq1wtf	adult brain medulloblastoma|medulloblastoma of adults|medulloblastoma											DOID:3864|UMLS:C1332188|NCIT:C4011|UMLS:C0278876																		owl:Class
MONDO:0003260	biolink:NamedThing	adult cerebellar neoplasm	A cerebellar neoplasm that occurs in an adult.	mondoexuq1wtf	tumor of adult cerebellum|tumor of the adult cerebellum|adult cerebellar neoplasms|adult cerebellar tumor|neoplasm of the adult cerebellum|cerebellar neoplasm of adults|adult cerebellar neoplasm|adult cerebellar tumors|neoplasm of adult cerebellum											NCIT:C5968|DOID:5056|UMLS:C1332197																		owl:Class
MONDO:0008470	biolink:NamedThing	spondyloepiphyseal dysplasia with punctate corneal dystrophy		mondoexuq1wtf	spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type											Orphanet:163673|UMLS:C1866727|MESH:C566660|OMIM:183850																		owl:Class
MONDO:0010565	biolink:NamedThing	red color blindness	Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.	mondoexuq1wtf	red colorblindness|CBP|protanomaly|colorblindness, partial, protan series|protanopia|protan defect											ICD10:H53.54|EFO:0005580|DOID:13910|ICD9:368.51|OMIM:303900|SCTID:51445007																		owl:Class
MONDO:0011081	biolink:NamedThing	dislocation of the hip-dysmorphism syndrome	Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.	mondoexuq1wtf	dislocation of the hip dysmorphism|Collins Pope syndrome|Collins-Pope syndrome|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism											GARD:0001428|SCTID:763755009|MESH:C563315|OMIM:601450|UMLS:C1832353|Orphanet:2412|ICD10:Q87.2														https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome				owl:Class
MONDO:0003383	biolink:NamedThing	fallopian tube clear cell adenocarcinoma	A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.	mondoexuq1wtf	clear cell adenocarcinoma of the fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of the fallopian tube|fallopian tube clear cell carcinoma|clear cell adenocarcinoma of fallopian tube|clear cell carcinoma of fallopian tube											DOID:5301|NCIT:C6280|UMLS:C1333591																		owl:Class
MONDO:0000283	biolink:NamedThing	Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type		mondoexuq1wtf	Korean hemorrhagic fever											DOID:0050200																		owl:Class
MONDO:0001663	biolink:NamedThing	hole retinal cyst		mondoexuq1wtf	macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst|macular cyst or hole											DOID:13214|ICD9:362.54|ICD10:H35.34|SCTID:1079004|UMLS:C1261331																		owl:Class
MONDO:0004279	biolink:NamedThing	glossopharyngeal motor neuropathy	Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)	mondoexuq1wtf	motor peripheral neuropathy of glossopharyngeal nerve|glossopharyngeal nerve motor peripheral neuropathy											NCIT:C27212|UMLS:C0751942|DOID:7558																		owl:Class
MONDO:0002316	biolink:NamedThing	motor peripheral neuropathy	Inflammation or degeneration of the peripheral motor nerves.	mondoexuq1wtf	HSMN - hereditary sensory and motor neuropathy|hereditary motor and sensory neuropathy|neuropathic muscular atrophy|peripheral motor neuropathy|HSMN											ICD9:356.9|SCTID:95663000|NCIT:C3500|DOID:2477|ICD10:G60.0																		owl:Class
MONDO:0023682	biolink:NamedThing	tympanic paraganglioma	A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.	mondoexuq1wtf	Tumor, Glomus Tympanicum|Tumors, Glomus Tympanicum|Tympanic paraganglioma|Tympanic Paraganglioma|Glomus Tympanicum Tumor|Glomus tympanicum tumor|tympanic paraganglioma|Glomus tympanicum paraganglioma|Glomus Tympanicum Tumors											GTR:AN0102048|GTR:AN0102047|NCIT:C8428|SCTID:253031000|UMLS:C0474820|MESH:D043604																		owl:Class
MONDO:0015071	biolink:NamedThing	middle ear neuroendocrine tumor	A neuroendocrine neoplasm that involves the middle ear.	mondoexuq1wtf	middle ear neuroendocrine tumor, well differentiated, low or intermediate grade|middle ear NET|middle ear neuroendocrine tumor|neuroendocrine tumor of middle ear|middle ear neuroendocrine neoplasm|neuroendocrine neoplasm of middle ear											Orphanet:100084|SCTID:717918002|UMLS:CN197364|UMLS:C4305468																		owl:Class
MONDO:0033810	biolink:NamedThing	isolated iridoschisis		mondoexuq1wtf												Orphanet:519392																		owl:Class
MONDO:0011295	biolink:NamedThing	schizophrenia 7	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.	mondoexuq1wtf	schizophrenia 7 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7|SCZD7											OMIM:603176|DOID:0070083																		owl:Class
MONDO:0019085	biolink:NamedThing	vernal keratoconjunctivitis	Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.	mondoexuq1wtf	VKC|Spring catarrh											SCTID:317349009|GARD:0007854|ICD10:H16.2|UMLS:C0022577|Orphanet:70476														https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis				owl:Class
MONDO:0001530	biolink:NamedThing	secondary hyperparathyroidism of renal origin		mondoexuq1wtf	secondary hyperparathyroidism (of renal origin)|hyperparathyroidism due to renal insufficiency											COHD:133810|ICD9:588.81|ICD10:N25.81|UMLS:C0271847|DOID:12465|SCTID:19034001																		owl:Class
MONDO:0008653	biolink:NamedThing	vesicoureteral reflux 1		mondoexuq1wtf	VUR|vesicoureteral reflux 1|VUR1											OMIM:193000|UMLS:CN032731																		owl:Class
MONDO:0004808	biolink:NamedThing	benign mammary dysplasia		mondoexuq1wtf	benign dysplasia of breast|benign mammary dysplasia					Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia						SCTID:57993004|COHD:78200|ICD9:610.9|ICD9:610.8|DOID:9504																		owl:Class
MONDO:0001658	biolink:NamedThing	nontoxic goiter	Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.	mondoexuq1wtf	goiter, non-toxic|euthyroid goiter|Nodule-thyroid, non tox|non-toxic simple goitre|non-toxic goitre|nontoxic goiter|goitre, non-toxic|non-toxic goiter											ICD10:E04.9|DOID:13195|ICD10:E04.0|UMLS:C0221777|NCIT:C35271																		owl:Class
MONDO:0012444	biolink:NamedThing	neurodegeneration with brain iron accumulation 2B		mondoexuq1wtf	neurodegeneration with brain iron accumulation type 2b|NBIA2B|neurodegeneration with brain iron accumulation 2B|Karak syndrome|NBIA2b|neurodegeneration with brain iron accumulation, Pla2G6-related|neurodegeneration with brain iron accumulation, Pla2g6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation type 2B|neuroaxonal dystrophy, atypical					NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset.						GARD:0010688|DOID:0110736|ICD10:G23.0|OMIM:610217																		owl:Class
MONDO:0005698	biolink:NamedThing	cervical incompetence	A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.	mondoexuq1wtf												DOID:9681|ICD9:622.5|ICD9:654.50|ICD10:N88.3|EFO:0007202|MESH:D002581|SCTID:17382005																		owl:Class
MONDO:0022201	biolink:NamedThing	has treatment by surgery		mondoexuq1wtf						Editor note: see https://github.com/monarch-initiative/mondo-build/issues/75																								owl:Class
MONDO:0022200	biolink:NamedThing	treatment for disease		mondoexuq1wtf						This modifier may be obsoleted in favor of MAO																								owl:Class
MONDO:0017747	biolink:NamedThing	disorder of fucoglycosan synthesis		mondoexuq1wtf												Orphanet:309505|ICD10:E77.8|UMLS:CN227193																		owl:Class
MONDO:0002953	biolink:NamedThing	skin infiltrative basal cell carcinoma	A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.	mondoexuq1wtf	infiltrating basal cell carcinoma|skin infiltrating basal cell carcinoma|infiltrative basal cell carcinoma											ICDO:8092/3|NCIT:C27539|DOID:4299|UMLS:C0334257																		owl:Class
MONDO:0020416	biolink:NamedThing	Neuhauser anomaly	Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).	mondoexuq1wtf												SCTID:766751007|Orphanet:99078|ICD10:Q25.4																		owl:Class
MONDO:0020682	biolink:NamedThing	Ehlers-Danlos syndrome, progeroid type 1		mondoexuq1wtf	galactosyltransferase 1 deficiency|Ehlers-Danlos syndrome, spondylodysplastic type, 1|xylosylprotein 4-Beta-galactosyltransferase deficiency|Ehlers-Danlos syndrome with Short stature and Limb anomalies|EDSSPD1|proteodermatan sulfate, defective biosynthesis of|Pds, defective biosynthesis of|Xgpt deficiency|Ehlers-Danlos syndrome, progeroid type, 1, formerly|dermatan sulfate proteoglycan|Ehlers-Danlos syndrome, progeroid type, 1											OMIM:130070																		owl:Class
MONDO:0043537	biolink:NamedThing	cluster headache syndrome	A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.	mondoexuq1wtf	cluster headaches|headache, atypical cluster|cluster headache, episodic|headaches, episodic cluster|histamine cephalgia|Hortons syndrome|headache syndrome, cluster|migraine, neuralgic|cluster headache syndromes|neuralgic migraine|cluster headache|histamine Cephalgia|headaches, chronic cluster|cluster headache, chronic|horton's headache|Cephalgia, histamine|syndrome, Horton's|atypical cluster headache|episodic cluster headache|migrainous neuralgia|syndromes, cluster headache|headache, cluster|headaches, atypical cluster|syndrome, cluster headache|cluster headache syndrome|Migraines, neuralgic|headache syndromes, cluster|ciliary Neuralgias|horton's neuralgia|Horton syndrome|cluster headaches, chronic|headache, episodic cluster|headache, chronic cluster|cluster headaches, atypical|neuralgic Migraines|neuralgia, ciliary|Cephalgias, histamine|syndrome, Horton|ciliary neuralgia|vasomotor headache|histamine Cephalgias|atypical cluster headaches|histamine headache|cluster headache, atypical|headaches, cluster|Neuralgias, ciliary|cluster headaches, episodic|chronic cluster headache|episodic cluster headaches|Horton's syndrome|chronic cluster headaches											MESH:D003027|SCTID:193031009|EFO:0008571|NCIT:C117077																		owl:Class
MONDO:0015530	biolink:NamedThing	trigeminal autonomic cephalalgia	A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.	mondoexuq1wtf												MESH:D051303|ICD9:339.09|ICD10:G44.8|UMLS:C1565172|Orphanet:157843|NCIT:C117074|SCTID:449814007																		owl:Class
MONDO:0002649	biolink:NamedThing	scrotum Paget disease	A mammary Paget's disease that involves the scrotum.	mondoexuq1wtf	scrotal Paget's disease|Paget's disease of the scrotum|scrotum Paget's disease|scrotum mammary Paget's disease|Paget's disease of scrotum|scrotum Paget disease|Paget disease of the scrotum											UMLS:C0238330|DOID:3444|NCIT:C7728																		owl:Class
MONDO:0002650	biolink:NamedThing	scrotal carcinoma	A carcinoma that arises from epithelial cells of the scrotum.	mondoexuq1wtf	scrotal cancer|carcinoma of scrotum|carcinoma of the scrotum|cancer of the scrotum|scrotum carcinoma|cancer of scrotum											DOID:3445|NCIT:C6389|UMLS:C1370468																		owl:Class
MONDO:0019109	biolink:NamedThing	CANOMAD syndrome	CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.	mondoexuq1wtf	chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-disialosyl antibodies|chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies											ICD10:G61.8|Orphanet:71279|GARD:0009778|MESH:C537980|UMLS:C2931684|SCTID:715624006														https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome				owl:Class
MONDO:0100407	biolink:NamedThing	acute myeloid leukemia, t(11;15)(p15;q35)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)	mondoexuq1wtf	AML, t(11;15)(p15;q35)											NCIT:C131504																		owl:Class
MONDO:0037738	biolink:NamedThing	cauda equina cancer	A cancer that involves the cauda equina.	mondoexuq1wtf	cancer of cauda equina|malignant neoplasm of cauda equina|malignant cauda equina neoplasm											SCTID:363477002|UMLS:C0349017																		owl:Class
MONDO:0004351	biolink:NamedThing	intraocular lymphoma	A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.	mondoexuq1wtf	primary intraocular lymphoma|intraocular lymphoma|primary intraocular non-Hodgkin's lymphoma|PIOL										MONDO:0017206	Orphanet:279904|ICD10:C85,7|MESH:D064090|ICD9:200.50|DOID:775|NCIT:C9184|SCTID:420788006																		owl:Class
MONDO:0044318	biolink:NamedThing	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).	mondoexuq1wtf	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold|IDDGIP											UMLS:C4479517|OMIM:617450																		owl:Class
MONDO:0006709	biolink:NamedThing	common bile duct neoplasm	Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.	mondoexuq1wtf	common bile duct tumor|common bile duct neoplasm (disease)|tumor of common bile duct|neoplasm of common bile duct											SCTID:126857009|UMLS:C0009442|MESH:D003138|DOID:4608|EFO:1000876																		owl:Class
MONDO:0005769	biolink:NamedThing	geniculate herpes zoster	A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.	mondoexuq1wtf	Ramsay Hunt syndrome type 2|herpetic geniculate ganglionitis|Herpes zoster auricularis|geniculate neuralgia|nervus intermedius neuralgia|Herpes Zoster Oticus|Ramsey Hunt syndrome|Ramsay Hunt syndrome type II											SCTID:95670000|UMLS:C0458220|NCIT:C84763|ICD9:351.8|UMLS:C0017409|EFO:0007281|ICD10:B02.21|DOID:9210|ICD9:053.11																		owl:Class
MONDO:0010690	biolink:NamedThing	congenital stationary night blindness 1A	Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene.	mondoexuq1wtf	CSNB1A|night blindness, congenital stationary, with myopia|congenital stationary night blindness type 1A|congenital stationary night blindness caused by mutation in NYX|NYX congenital stationary night blindness|CSNB, complete, X-linked|complete CSNB X-linked|NBMI|congenital stationary night blindness with myopia|hemeralopia-myopia|congenital stationary night blindness 1A X-linked|nyctalopia|myopia-night blindness|night blindness, congenital stationary, type 1A											OMIM:310500|DOID:0110870																		owl:Class
MONDO:0012535	biolink:NamedThing	holoprosencephaly, recurrent infections, and monocytosis		mondoexuq1wtf	holoprosencephaly, recurrent infections, and monocytosis											GARD:0010055|MESH:C538328|OMIM:610680|UMLS:C1853187														https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis				owl:Class
MONDO:0100219	biolink:NamedThing	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant		mondoexuq1wtf	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2							http://orcid.org/0000-0001-5208-3432				OMIM:618985																		owl:Class
MONDO:0010194	biolink:NamedThing	Weill-Marchesani syndrome 1	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.	mondoexuq1wtf	spherophakia-brachymorphia syndrome|ADAMTS10 Weill-Marchesani syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome type 1|Weill-Marchesani syndrome caused by mutation in ADAMTS10|Weill-Marchesani syndrome 1|Weill-Marchesani syndrome, autosomal recessive|WMS1											OMIM:277600																		owl:Class
MONDO:0003249	biolink:NamedThing	pineal gland cancer	Abnormal malignant growth of the cells that comprise the pineal parenchyma.	mondoexuq1wtf	Pineocytic tumor|malignant pineal area neoplasm|malignant pineal area tumor|malignant neoplasm of the pineal gland|malignant neoplasm of pineal body|malignant pineal region tumor|pinealoma|malignant pineal gland tumor|malignant pineal body neoplasm|tumor of the pineal region|neoplasm of the pineal region|malignant pineal gland neoplasm|malignant pineal region neoplasm|malignant neoplasm of pineal gland|malignant tumor of the pineal gland|cancer of pineal body|pineal body cancer|malignant tumor of pineal gland											SCTID:363483004|ICD10:C75.3|NCIT:C3573|ICD9:194.4|DOID:5032																		owl:Class
MONDO:0003205	biolink:NamedThing	renal pelvis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the renal pelvis	mondoexuq1wtf	kidney renal pelvis adenocarcinoma|renal pelvis adenocarcinoma|adenocarcinoma of renal pelvis|adenocarcinoma of kidney pelvis|adenocarcinoma of the kidney pelvis|adenocarcinoma of the renal pelvis|kidney pelvis adenocarcinoma											NCIT:C6143|UMLS:C1335748|DOID:4918																		owl:Class
MONDO:0005519	biolink:NamedThing	renal pelvis carcinoma	A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.	mondoexuq1wtf	kidney pelvis carcinoma|malignant neoplasm of renal pelvis|renal pelvis carcinoma|renal pelvis cancer|malignant renal pelvis neoplasm|carcinoma of renal pelvis|carcinoma of the renal pelvis|cancer of renal pelvis|kidney renal pelvis cancer|carcinoma of kidney pelvis|carcinoma of the kidney pelvis											ICD10:C65|EFO:0005582|SCTID:363457009|UMLS:C1335749|UMLS:C0153618|NCIT:C6142|ICD9:189.1|DOID:4919																		owl:Class
MONDO:0008374	biolink:NamedThing	retinal cone dystrophy type 1		mondoexuq1wtf	cone dystrophy, autosomal dominant|retinal cone dystrophy 1|retinal cone Degeneration|cone dystrophy autosomal dominant|RCD1											GARD:0003196|MESH:C566719|OMIM:180020																		owl:Class
MONDO:0011454	biolink:NamedThing	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.	mondoexuq1wtf	patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies											Orphanet:228190|OMIM:604381|MESH:C565782|UMLS:C1858420|ICD10:Q87.2																		owl:Class
MONDO:0003694	biolink:NamedThing	ovarian clear cell cystadenofibroma	A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.	mondoexuq1wtf	clear cell cystadenofibroma of ovary|ovary clear cell cystadenofibroma|ovarian clear cell cystadenofibroma											UMLS:C1518695|DOID:5896|NCIT:C40086																		owl:Class
MONDO:0019568	biolink:NamedThing	Ehlers-Danlos syndrome, classic type, 2	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.	mondoexuq1wtf	EDS II, formerly|Ehlers Danlos syndrome, mild Classic type, formerly|Ehlers Danlos syndrome, mitis type, formerly|EDSCL2|Ehlers Danlos syndrome, mild Classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, type Ii|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers Danlos syndrome, mitis type|EDS II											MESH:C536195|Orphanet:90318|UMLS:C0268336|OMIM:130010|NCIT:C125697|ICD10:Q79.6																		owl:Class
MONDO:0042971	biolink:NamedThing	congenital herpes virus infection	An infectious embryofetopathy caused by infection with Herpesviridae.	mondoexuq1wtf	congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae caused infectious embryofetopathy|Herpesviridae infectious embryofetopathy											GARD:0002670|GARD:0002669|SCTID:715337002|UMLS:C4275250																		owl:Class
MONDO:0008079	biolink:NamedThing	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome		mondoexuq1wtf	Npdc syndrome|neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|duodenal carcinoid syndrome											GARD:0010543|UMLS:C1834232|OMIM:162240|MESH:C563522																		owl:Class
MONDO:0003130	biolink:NamedThing	mesoblastic nephroma	A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.	mondoexuq1wtf	mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma											ICD9:236.99|SCTID:307604008|DOID:4772|UMLS:C0206628|MESH:D018201																		owl:Class
MONDO:0018761	biolink:NamedThing	SMARCA4-deficient sarcoma of thorax		mondoexuq1wtf	SMARCA4-deficient thoracic sarcoma											UMLS:CN242100|DOID:0080532|Orphanet:466962																		owl:Class
MONDO:0011745	biolink:NamedThing	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery		mondoexuq1wtf	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery											UMLS:C1847196|MESH:C535722|OMIM:606894|GARD:0009227														https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery				owl:Class
MONDO:0006000	biolink:NamedThing	tuberculous peritonitis	A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.	mondoexuq1wtf	Mycobacterium tuberculosis caused peritonitis|Mycobacterium tuberculosis peritonitis											MESH:D014395|UMLS:C0041325|DOID:9801|ICD9:014.01|COHD:194268|ICD10:A18.31|SCTID:44572005|ICD9:014.0|EFO:0007529|ICD9:014.00																		owl:Class
MONDO:0013945	biolink:NamedThing	peroxisome biogenesis disorder 9B		mondoexuq1wtf	peroxisome biogenesis disorder 9B|peroxisome biogenesis disorder, PEX7-related, atypical|Refsum disease, adult, 2|peroxisome biogenesis disorder, complementation group R|peroxisome biogenesis disorder, complementation group 11|PBD9B|peroxisome biogenesis disorder type 9B											UMLS:CN159238|OMIM:614879														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0011849	biolink:NamedThing	psoriatic arthritis	Joint inflammation associated with psoriasis.	mondoexuq1wtf	susceptibility to psoriatic arthritis|psoriatic arthritis, susceptibility to|psoriatic arthritis, susceptibility to, 1|arthritis psoriatica|psoriatic arthropathy|arthropathic psoriasis											MESH:D015535|ICD9:696.0|ICD10:L40.5|EFO:0003778|DOID:9008|UMLS:C0003872|NCIT:C61277|SCTID:156370009|ICD10:L40.50																		owl:Class
MONDO:0008383	biolink:NamedThing	rheumatoid arthritis	A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.	mondoexuq1wtf	autoimmune arthritis|rheumatoid arthritis, susceptibility to|atrophic arthritis|arthritis, rheumatoid|rheumatoid arthritis|RA|arthritis or polyarthritis, rheumatic											EFO:0000685|COHD:80809|UMLS:C0003873|ICD10:M06.9|MESH:D001172|SCTID:69896004|NCIT:C2884|OMIM:180300|KEGG:05323|ICD9:714.0|DOID:7148																		owl:Class
MONDO:0006570	biolink:NamedThing	lichen disease	A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.	mondoexuq1wtf	lichen|lichen condition											DOID:8574|ICD10:L28.0|ICD9:697|EFO:1000724|SCTID:88996004|UMLS:C0023643|ICD9:697.8|ICD9:697.9																		owl:Class
MONDO:0014897	biolink:NamedThing	portal hypertension, noncirrhotic		mondoexuq1wtf	NCPH|portal hypertension, noncirrhotic; NCPH|portal hypertension, noncirrhotic											UMLS:C4310735|OMIM:617068																		owl:Class
MONDO:0004226	biolink:NamedThing	diffuse intraductal papillomatosis		mondoexuq1wtf	diffuse intraductal papillomatosis											DOID:7444|UMLS:C1377912|NCIT:C7364																		owl:Class
MONDO:0001364	biolink:NamedThing	regular astigmatism		mondoexuq1wtf												UMLS:C0152193|SCTID:68905002|COHD:380706|ICD9:367.21|DOID:11781|ICD10:H52.22																		owl:Class
MONDO:0011284	biolink:NamedThing	astigmatism	Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)	mondoexuq1wtf	astigmatism (disease)|astigmatism		astigmatism (disease)									DOID:11782|CSP:1116-1831|OMIM:603047|ICD10:H52.2|ICD9:367.20|SCTID:82649003|ICD10:H52.20|ICD9:367.2|UMLS:C0004106|MESH:D001251|COHD:378424|HP:0000483																		owl:Class
MONDO:0016514	biolink:NamedThing	epidermolysis bullosa simplex with anodontia/hypodontia		mondoexuq1wtf	Gamborg-Nielsen syndrome|Kallin syndrome											ICD10:Q81.0|Orphanet:2325																		owl:Class
MONDO:0013387	biolink:NamedThing	developmental and epileptic encephalopathy, 7	KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.	mondoexuq1wtf	KCNQ2-NEE|EIEE7|KCNQ2-related epileptic encephalopathy|KCNQ2-related neonatal epileptic encephalopathy|KCNQ2-related disorders|DEE7|epileptic encephalopathy, early infantile, type 7|epileptic encephalopathy, early infantile, 7											GARD:0013060|UMLS:C3150986|ICD10:G40.4|OMIM:613720|Orphanet:439218|DOID:0080462																		owl:Class
MONDO:0006157	biolink:NamedThing	colorectal adenosquamous carcinoma	An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	mondoexuq1wtf	colorectum adenosquamous carcinoma|colorectal (colon or rectal) adenosquamous cancer|colorectal adenosquamous cancer|colorectal adenosquamous carcinoma											NCIT:C43589|EFO:1000190|UMLS:C1707437																		owl:Class
MONDO:0100398	biolink:NamedThing	acute myeloid leukemia, inv(3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	mondoexuq1wtf	AML, inv(3)(q21q26.2)|AML, inv(3)(q21.3q26.2)|AML, inv(3)(q21.3;q26.2)											NCIT:C122716																		owl:Class
MONDO:0012463	biolink:NamedThing	retinitis pigmentosa 35	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.	mondoexuq1wtf	retinitis pigmentosa type 35|retinitis pigmentosa caused by mutation in SEMA4A|SEMA4A retinitis pigmentosa|RP 35|RP35|retinitis pigmentosa 35											DOID:0110357|ICD10:H35.5|MESH:C565206|GARD:0010402|OMIM:610282|UMLS:C1853214														https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35				owl:Class
MONDO:0018440	biolink:NamedThing	autosomal recessive distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.	mondoexuq1wtf	autosomal recessive distal renal tubular acidosis (disease)|AR dRTA|autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive											UMLS:C1864498|Orphanet:402041|ICD10:N25.8																		owl:Class
MONDO:0009104	biolink:NamedThing	Donnai-Barrow syndrome	Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.	mondoexuq1wtf	faciooculoacousticorenal syndrome|syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|FOAR syndrome|diaphragmatic hernia-exomphalos-hypertelorism syndrome|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|Donnai-Barrow syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|facio-oculo-acoustico-renal syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|DBS/FOAR syndrome|Holmes-Schepens syndrome											DOID:0090144|SCTID:702418009|ICD10:Q87.8|GARD:1899|ICD9:759.89|GARD:0001899|Orphanet:2143|UMLS:C1857277|OMIM:222448|MESH:C536390														https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome				owl:Class
MONDO:0023275	biolink:NamedThing	Graham-Boyle-Troxell syndrome	Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	Graham-Boyle-Troxell syndrome|graham Boyle Troxell syndrome|cystic hamartomata of lung and kidney|cystic hamartoma of lung and kidney											GARD:0002557|ICD9:759.6|ICD10:Q85.8|SCTID:707530009|MESH:C537292|UMLS:C2931468|Orphanet:2111														https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome				owl:Class
MONDO:0005137	biolink:NamedThing	nutritional disorder	Any condition related to a disturbance between proper intake and utilization of nourishment.	mondoexuq1wtf	nutritional disorder|nutrition disease											SCTID:2492009|EFO:0001069|ICD9:783.9|MESH:D009748|DOID:374|NCIT:C26836|UMLS:C3714509																		owl:Class
MONDO:0014506	biolink:NamedThing	hypomyelinating leukodystrophy 9	Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.	mondoexuq1wtf	RARS leukodystrophy|hypomyelinating leukodystrophy type 9|RARS-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy caused by mutation in RARS|leukodystrophy, hypomyelinating, type 9|HLD9|leukodystrophy, hypomyelinating, 9											DOID:0060791|UMLS:C4015323|OMIM:616140|Orphanet:438114|ICD10:E75.2																		owl:Class
MONDO:0015234	biolink:NamedThing	arachnodactyly-abnormal ossification-intellectual disability syndrome	Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	mondoexuq1wtf	arachnodactyly, abnormal ossification and intellectual disability|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and mental retardation											UMLS:C2931398|GARD:0000381|Orphanet:1129|MESH:C537024|ICD10:Q87.8|SCTID:720501007																		owl:Class
MONDO:0020709	biolink:NamedThing	Majocchi granuloma	An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.	mondoexuq1wtf	Majocchi's granuloma																													owl:Class
MONDO:0044792	biolink:NamedThing	large congenital melanocytic nevus	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	mondoexuq1wtf	GMN|congenital melanocytic nevi|congenital melanocytic Nevus of skin|congenital pigmented Nevus of skin|congenital Nevus of skin|Giant congenital melanocytic nevus|Giant pigmented hairy nevus|congenital pigmented Nevus of the skin|melanocytic NEVUS syndrome, CONGENITAL|pigmented moles|congenital pigmented skin Nevus|congenital melanocytic Nevus|spitz Nevus|congenital Nevus of the skin|LCMN|congenital pigmented nevus|Giant Congenital pigmented Nevus|CMNS|congenital nevus|congenital pigmented melanocytic Nevus|congenital melanocytic Nevus of the skin|congenital skin Nevus|Giant pigmented hairy Nevus|Nevus spilus					Editor note: check if LCMN needs separated from CMN						SCTID:398696001|MedDRA:10072036|ICD10:Q82.5|Orphanet:626|OMIM:137550|NCIT:C3944|UMLS:C1318558|ONCOTREE:SKCN|UMLS:C1842036|DOID:0111359																		owl:Class
MONDO:0018804	biolink:NamedThing	MYO5B-related progressive familial intrahepatic cholestasis		mondoexuq1wtf	MYO5B deficiency											UMLS:CN776887|Orphanet:480491																		owl:Class
MONDO:0005605	biolink:NamedThing	transitional cell papilloma	A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.	mondoexuq1wtf	transitional papilloma|transitional cell papilloma|transitional cell papilloma, benign|transitional cell papilloma, benign (morphologic abnormality)|transitional cell papilloma NOS (morphologic abnormality)|papilloma, transitional cell, benign											ICDO:8120/0|DOID:2670|UMLS:C0334266|NCIT:C4115|EFO:0006497																		owl:Class
MONDO:0003001	biolink:NamedThing	seminoma	A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.	mondoexuq1wtf	seminoma|seminoma, pure|seminoma, malignant											ICDO:9061/3|DOID:4440|MESH:D018239|ICD9:186.9|SCTID:443675005|NCIT:C9309|ONCOTREE:SEM																		owl:Class
MONDO:0020580	biolink:NamedThing	germinomatous germ cell tumor	A term that refers to germinoma, seminoma, or dysgerminoma.	mondoexuq1wtf	germinomatous germ cell tumor											NCIT:C121618|UMLS:C4054897																		owl:Class
MONDO:0001196	biolink:NamedThing	psychologic dyspareunia		mondoexuq1wtf	dyspareunia, psychogenic|non-organic dyspareunia											SCTID:41021005|ICD10:F52.6|DOID:11120|ICD9:302.76|MESH:D004414																		owl:Class
MONDO:0042980	biolink:NamedThing	Westphal disease		mondoexuq1wtf	Westphal disease|HD- Westphal variant|Westphal variant of Huntington's disease											UMLS:C1279186|MESH:C536694|GTR:AN0099344|GARD:0005557|GTR:AN0099345|SCTID:182747006|GTR:AN0099343|MEDGEN:224821																		owl:Class
MONDO:0019652	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation		mondoexuq1wtf												Orphanet:93214|ICD10:N04.3|UMLS:CN206525																		owl:Class
MONDO:0011811	biolink:NamedThing	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	mondoexuq1wtf	SCASI|spinocerebellar ataxia 24|spinocerebellar ataxia, autosomal recessive 4|spinocerebellar ataxia autosomal recessive 4|spinocerebellar ataxia 24, formerly|SCAR4|spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia with saccadic Intrusions											OMIM:607317|ICD10:G11.1|DOID:0111611|MESH:C537310|GARD:0004952|UMLS:C1846492|Orphanet:95434																		owl:Class
MONDO:0008005	biolink:NamedThing	cardiospondylocarpofacial syndrome	Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.	mondoexuq1wtf	CSCF|Forney Robinson Pascoe syndrome|congenital heart disease, deafness, and skeletal malformations|mitral regurgitation-deafness-skeletal anomalies syndrome|Forney syndrome|cardiospondylocarpofacial syndrome|Forney-Robinson-Pascoe syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones											OMIM:157800|UMLS:CN204053|GARD:0002362|MESH:C563572|Orphanet:3238|SCTID:720612000																		owl:Class
MONDO:0010215	biolink:NamedThing	xeroderma pigmentosum group F	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.	mondoexuq1wtf	xeroderma pigmentosum, complementation group F|xeroderma pigmentosum group type F|xeroderma pigmentosum, type 6|xeroderma pigmentosum, type F/Cockayne syndrome|XP group F|XPF|ERCC4 xeroderma pigmentosum|XP-F|XP, group F|XP6|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum VI|xeroderma pigmentosum caused by mutation in ERCC4|xeroderma pigmentosum 6											DOID:0110848|SCTID:42530008|NCIT:C3968|MESH:C562592|OMIM:278760|ICD10:Q82.1|Orphanet:276264|GARD:0005628																		owl:Class
MONDO:0009621	biolink:NamedThing	microcephaly-cervical spine fusion anomalies syndrome	Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	mondoexuq1wtf	microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies|microcephaly cervical spine fusion anomalies|microcephaly with cervical spine fusion anomalies											GARD:0003610|SCTID:715462003|OMIM:251250|ICD10:Q87.8|MESH:C537325|Orphanet:2522|UMLS:C0796066																		owl:Class
MONDO:0003275	biolink:NamedThing	middle ear cancer	A malignant neoplasm involving the middle ear	mondoexuq1wtf	malignant middle Ear tumor|malignant neoplasm of middle ear|malignant tumor of the middle Ear|middle ear cancer|tumor of the middle ear|malignant neoplasm of the middle Ear|cancer of middle ear|malignant middle ear neoplasm|malignant tumor of middle Ear											SCTID:363359008|NCIT:C4765|DOID:5099																		owl:Class
MONDO:0005544	biolink:NamedThing	hippocampal sclerosis of aging	Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus	mondoexuq1wtf												EFO:0005678																		owl:Class
MONDO:0005217	biolink:NamedThing	familial cardiomyopathy	An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary cardiomyopathy											EFO:0002945|SCTID:35728003|ICD9:425.4|UMLS:C0264789																		owl:Class
MONDO:0006111	biolink:NamedThing	bladder flat intraepithelial lesion	A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.	mondoexuq1wtf	bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|flat intraepithelial lesion of the bladder|urinary bladder flat intraepithelial lesion											NCIT:C37266|UMLS:C1332559|EFO:1000126|DOID:5429																		owl:Class
MONDO:0020098	biolink:NamedThing	constitutional anemia due to iron metabolism disorder		mondoexuq1wtf												Orphanet:98360|UMLS:CN227778|ICD10:D50.8																		owl:Class
MONDO:0044306	biolink:NamedThing	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).	mondoexuq1wtf	severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|NECFM											UMLS:C4479333|OMIM:617393|Orphanet:500545																		owl:Class
MONDO:0032943	biolink:NamedThing	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies		mondoexuq1wtf	NEDMACE|NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES											OMIM:618829																		owl:Class
MONDO:0008791	biolink:NamedThing	isolated anencephaly/exencephaly	Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.	mondoexuq1wtf	absence of a large part of the brain and the skull|ANPH|anencephaly											GARD:0005808|SCTID:89369001|Orphanet:1048|ICD9:740.0|OMIM:206500|ICD10:Q00.0																		owl:Class
MONDO:0012364	biolink:NamedThing	dilated cardiomyopathy 1Q	A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.	mondoexuq1wtf	cardiomyopathy, dilated, 1Q|CMD1Q|dilated cardiomyopathy type 1Q											ICD10:I42.0|MESH:C563688|UMLS:C1835926|OMIM:609915|DOID:0110442																		owl:Class
MONDO:0022985	biolink:NamedThing	diffuse cavernous hemangioma of the rectum		mondoexuq1wtf	cavernous haemangioma of the rectum											GARD:0010750														https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum				owl:Class
MONDO:0004701	biolink:NamedThing	uterine polyp	A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.	mondoexuq1wtf	polyp of uterus|endometrial/uterine polyp|polyp, uterus|polyp of the uterus|polyp of corpus uteri|uterine polyp|uterus polyp|polyp of endometrium											UMLS:C0156369|SCTID:11314008|NCIT:C3662|DOID:9042|ICD9:621.0|COHD:200779|ICD10:N84.0																		owl:Class
MONDO:0012968	biolink:NamedThing	Usher syndrome type 1H	An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.	mondoexuq1wtf	USHER syndrome, type IH|USH1H|Usher syndrome type IH											MESH:C567227|OMIM:612632|ICD10:H35.5|DOID:0110835|UMLS:C2675458																		owl:Class
MONDO:0010168	biolink:NamedThing	Usher syndrome type 1	A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.	mondoexuq1wtf	Usher syndrome, type I, French variety|US1|Usher syndrome, type 1A|retinitis pigmentosa and congenital deafness|USH1A|Usher syndrome, type 1B|USHER syndrome, type I|Usher syndrome, type 1|Usher syndrome, type Ia|Usher syndrome, type Ia, formerly|USH1|Usher syndrome, type I, French variety, formerly											SCTID:232057003|GARD:0005436|ICD10:H35.5|GARD:0005435|Orphanet:231169|DOID:0110826|NCIT:C126327																		owl:Class
MONDO:0023297	biolink:NamedThing	guttate psoriasis	Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.	mondoexuq1wtf	psoriasis guttata|psoriasis guttate|guttate psoriasis											ICD10:L40.4|UMLS:C0343052|ICD9:696.1|SCTID:37042000|GARD:0010569														https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis				owl:Class
MONDO:0012944	biolink:NamedThing	chromosome 17P13.3, telomeric, duplication syndrome		mondoexuq1wtf	split-hand/foot malformation with long bone deficiency 3|chromosome 17P13.3, telomeric, duplication syndrome											UMLS:C2675492|OMIM:612576|MESH:C567245																		owl:Class
MONDO:0003414	biolink:NamedThing	skin pilomatrix carcinoma	A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.	mondoexuq1wtf	pilomatricoma, malignant|pilomatrix skin carcinoma|pilomatrix carcinoma|invasive pilomatrixoma|matrical carcinoma|pilomatrix carcinoma of the skin|Trichomatrical carcinoma|calcified epithelial carcinoma of Malherbe|malignant pilomatricoma|calcifying epitheliocarcinoma|Pilomatrical carcinoma|pilomatrix carcinoma of skin											SCTID:307610008|ICD10:C44.4|UMLS:C0585475|DOID:5376|NCIT:C4114|Orphanet:499182|ICD10:C44.3|ICDO:8110/3																		owl:Class
MONDO:0006049	biolink:NamedThing	papillary lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.	mondoexuq1wtf	lung papillary adenocarcinoma|papillary adenocarcinoma of lung|papillary lung adenocarcinoma|lung papillary-adenocarcinoma|papillary adenocarcinoma of the lung											UMLS:C1335325|SCTID:707411007|ICD9:162.9|EFO:1000046|DOID:5588|NCIT:C5650																		owl:Class
MONDO:0019377	biolink:NamedThing	Mycoplasma encephalitis	Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).	mondoexuq1wtf	Mycoplasma pneumoniae infectious encephalitis|Mycoplasma pneumoniae caused infectious encephalitis											Orphanet:83482|ICD10:B96.0																		owl:Class
MONDO:0009002	biolink:NamedThing	coloboma, ocular, autosomal recessive		mondoexuq1wtf	coloboma, ocular, autosomal recessive											OMIM:216820|UMLS:C4011974																		owl:Class
MONDO:0000610	biolink:NamedThing	marantic endocarditis	Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).	mondoexuq1wtf	nonbacterial thrombotic endocarditis|non-bacterial thrombotic endocarditis											SCTID:57181007|DOID:0060068|MESH:D059905																		owl:Class
MONDO:0000831	biolink:NamedThing	thrombotic disease	The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.	mondoexuq1wtf	Clots, blood|blood clot|thrombus|thrombotic disorder|thrombosis|blood Clots|clot, blood|Thromboses											NCIT:C26891|MESH:D013927|SCTID:439127006|DOID:0060903|ICD9:453.9																		owl:Class
MONDO:0013797	biolink:NamedThing	chromosome 17q12 deletion syndrome	17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.	mondoexuq1wtf	monosomy 17q12|chromosome 17q12 deletion syndrome|Del(17)(q12)|17q12 recurrent deletion syndrome|17q12 microdeletion syndrome|17q12 deletion syndrome											OMIM:614527|SCTID:733519008|UMLS:C4518822|Orphanet:261265|DOID:0060404|ICD10:Q93.5|UMLS:C3281138|GARD:0013297																		owl:Class
MONDO:0025481	biolink:NamedThing	zoonosis	An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).	mondoexuq1wtf	infections, zoonotic|disease, zoonotic|disease, zoonotic infectious|zoonotic disease|zoonotic infectious disease|diseases, zoonotic infectious|infectious diseases, zoonotic|infectious disease, zoonotic|diseases, zoonotic|zoonotic infectious diseases|zoonotic diseases|zoonoses|zoonotic infections|zoonotic infection|infection, zoonotic											Wikipedia:Zoonosis|MESH:D015047|UMLS:C0043528|NCIT:C35803																		owl:Class
MONDO:0018820	biolink:NamedThing	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	mondoexuq1wtf	MECRCN|TANGO2 deficiency|transport and golgi organization protein 2 (TANGO2) deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration											UMLS:C4225171|Orphanet:480864|GARD:0013423|UMLS:CN776869|OMIM:616878														https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias				owl:Class
MONDO:0020766	biolink:NamedThing	neuropathy, congenital hypomyelinating, 3		mondoexuq1wtf	CHN3|NEUROPATHY, CONGENITAL HYPOMYELINATING, 3											OMIM:618186																		owl:Class
MONDO:0019877	biolink:NamedThing	distal trisomy 2q	Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	mondoexuq1wtf	trisomy 2qter|telomeric duplication 2q|distal trisomy type 2q|distal duplication 2q											ICD10:Q92.3|Orphanet:96094|SCTID:763272003																		owl:Class
MONDO:0020440	biolink:NamedThing	persistent left superior vena cava connecting to the left-sided atrium	Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.	mondoexuq1wtf	persistent left SVC connecting to the left-sided atrium|left superior caval vein persisting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium											ICD10:Q26.1|Orphanet:99109																		owl:Class
MONDO:0100296	biolink:NamedThing	Olmsted syndrome 1	Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	mondoexuq1wtf	Olmsted syndrome|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|palmoplantar and periorificial keratoderma|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques							http://orcid.org/0000-0001-5208-3432				UMLS:C2609071|ICD10:Q82.8|GARD:0004075|OMIM:614594|Orphanet:659|MedDRA:10068842																		owl:Class
MONDO:0010815	biolink:NamedThing	spondyloepiphyseal dysplasia tarda with characteristic facies		mondoexuq1wtf	spondyloepiphyseal dysplasia tarda with characteristic facies											UMLS:C1838653|OMIM:600093|MESH:C564003																		owl:Class
MONDO:0024523	biolink:NamedThing	aortic valve disease 1	Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.	mondoexuq1wtf	NOTCH1 aortic valve disease|aortic stenosis, calcific|aortic valve disease caused by mutation in NOTCH1|aortic valve, bicuspid|Notch1 aortic valve disease|aortic valve disease|AOVD1|aortic valve, calcification of|aortic valve disease 1|aortic valve disease caused by mutation in Notch1|bicuspid aortic valve											OMIM:109730|DOID:0080333|UMLS:C3887892																		owl:Class
MONDO:0003499	biolink:NamedThing	sarcomatoid squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent spindle cell component.	mondoexuq1wtf	spindle cell squamous carcinoma of skin|spindle cell (sarcomatoid) squamous cell carcinoma|spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell squamous cell carcinoma|spindle cell squamous carcinoma of the skin											NCIT:C4666|SCTID:254653005|UMLS:C0349656|DOID:5536																		owl:Class
MONDO:0016101	biolink:NamedThing	neurolymphomatosis	A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.	mondoexuq1wtf	Marek's disease|fowl paralyses|fowl paralysis|Marek disease											UMLS:C0024793|GARD:0006974|SCTID:766752000|Orphanet:206586|MESH:D008380																		owl:Class
MONDO:0015786	biolink:NamedThing	Prader-Willi syndrome due to imprinting mutation		mondoexuq1wtf												ICD10:Q87.1|Orphanet:177910|UMLS:CN200368																		owl:Class
MONDO:0020513	biolink:NamedThing	spermatocytic seminoma	A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.	mondoexuq1wtf	testicular spermatocytic seminoma|spermatocytoma|spermatocytic seminoma											DOID:5834|ICD10:C62.9|DOID:7891|Orphanet:99865|NCIT:C39921|ICDO:9063/3|UMLS:C0334517																		owl:Class
MONDO:0010570	biolink:NamedThing	craniofrontonasal syndrome	Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.	mondoexuq1wtf	CFND|craniofrontonasal dysplasia|craniofrontonasal syndrome|craniofrontonasal dysostosis|CFNS											DOID:14737|SCTID:715421009|UMLS:C0220767|OMIM:304110|GARD:0001578|Orphanet:1520|MESH:C536456|ICD10:Q87.1																		owl:Class
MONDO:0017695	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form		mondoexuq1wtf	GSD type 4, progressive hepatic form|glycogenosis type 4, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis type IV, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|GBE deficiency, progressive hepatic form|glycogen storage disease type IV, progressive hepatic form|GSDIV, progressive hepatic form											Orphanet:308621|UMLS:CN203594|ICD10:E74.0																		owl:Class
MONDO:0002877	biolink:NamedThing	cervical carcinosarcoma	A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.	mondoexuq1wtf	cervical malignant Mullerian mixed tumor|cervical mixed epithelial and mesenchymal neoplasm|cervical malignant mixed Mullerian tumor|uterine cervix carcinosarcoma|cervical carcinosarcoma|cervical malignant mixed mesodermal (Mullerian) tumor|cervical malignant Müllerian mixed tumor|malignant Mullerian mixed tumor of the cervix uteri|cervical malignant mixed mesodermal (Müllerian) tumor|malignant Müllerian mixed tumor of the cervix uteri|cervical malignant mixed mesodermal mullerian tumor|carcinosarcoma of the cervix uteri											Orphanet:213787|UMLS:CN201068|UMLS:C1516420|ICD10:C53|NCIT:C36097|UMLS:C1332917|SCTID:764951002|DOID:4112																		owl:Class
MONDO:0016277	biolink:NamedThing	malignant mixed epithelial and mesenchymal tumor of cervix uteri		mondoexuq1wtf	cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri											ICD10:C53.0|Orphanet:213782|ICD10:C53.1|UMLS:CN201067|ICD10:C53.8																		owl:Class
MONDO:0003234	biolink:NamedThing	optic nerve astrocytoma	A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.	mondoexuq1wtf	optic nerve astrocytoma|astrocytic tumor of optic nerve|cranial nerve II astrocytoma (excluding glioblastoma)|optic tract astrocytoma|astrocytoma of optic nerve|astrocytoma (excluding glioblastoma) of cranial nerve II|optic tract astrocytoma (excluding glioblastoma)|astrocytoma of the optic nerve											NCIT:C6769|DOID:4991|UMLS:C1335114																		owl:Class
MONDO:0003235	biolink:NamedThing	optic nerve glioma	A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	mondoexuq1wtf	glioma of the optic nerve|glioma of cranial nerve II|cranial nerve II glioma|optic nerve glioma|glioma of optic nerve											NCIT:C4537|DOID:4992|ICD9:237.9|MESH:D020339|UMLS:C0346326|SCTID:254976006																		owl:Class
MONDO:0012168	biolink:NamedThing	dyslexia, susceptibility to, 8		mondoexuq1wtf	dyslexia, susceptibility to, 8|DYX8											OMIM:608995																		owl:Class
MONDO:0022454	biolink:NamedThing	angiosarcoma of the scalp	Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.	mondoexuq1wtf	angiosarcoma (disease) of scalp|scalp angiosarcoma (disease)											GARD:0005814														https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp				owl:Class
MONDO:0011721	biolink:NamedThing	distal myopathy with anterior tibial onset		mondoexuq1wtf	distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT											MESH:C564664|ICD10:G71.0|DOID:0111187|OMIM:606768|UMLS:C1847532|Orphanet:178400																		owl:Class
MONDO:0010092	biolink:NamedThing	Filippi syndrome	Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	mondoexuq1wtf	FLPIS|type 1 syndactyly-microcephaly-intellectual disability syndrome|syndactyly type I with microcephaly and intellectual disability|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|Filippi syndrome|syndactyly, type I, with microcephaly and intellectual disability|Scott craniodigital syndrome with mental retardation|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|syndactyly, type I, with microcephaly and mental retardation|Scott craniodigital syndrome with intellectual disability|FILIPPI syndrome|syndactyly type I with microcephaly and mental retardation											MESH:C538152|SCTID:720954000|OMIM:272440|ICD10:Q87.8|UMLS:C0795940|Orphanet:3255|GARD:0000062																		owl:Class
MONDO:0013469	biolink:NamedThing	retinitis pigmentosa 38	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.	mondoexuq1wtf	Rod-cone dystrophy, childhood-onset|retinitis pigmentosa type 38|retinitis pigmentosa 38|MERTK retinitis pigmentosa|retinitis pigmentosa caused by mutation in MERTK|RP38											ICD10:H35.5|DOID:0110367|UMLS:C3151228|OMIM:613862																		owl:Class
MONDO:0016129	biolink:NamedThing	eosinophilic gastroenteritis	Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.	mondoexuq1wtf	EGE|eosinophilic gastroenterocolitis|eosinophilic enteritis|eosinophilic gastroenteritis											SCTID:359804008|NCIT:C35330|DOID:4031|Orphanet:2070|UMLS:C1262481|GARD:0009142|COHD:443406|MedDRA:10017902|ICD9:558.41|ICD10:K52.8																		owl:Class
MONDO:0012243	biolink:NamedThing	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations		mondoexuq1wtf	Hoffman syndrome|Bilu syndrome|B-cell immunodeficiency, distal limb anomalies, and urogenital malformations											UMLS:C1836437|OMIM:609296|MESH:C563745																		owl:Class
MONDO:0010521	biolink:NamedThing	amelogenesis imperfecta type 1E	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.	mondoexuq1wtf	amelogenesis imperfecta X-linked 1|AIH1|X-linked amelogenesis imperfecta 1|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|AI1E|amelogenesis imperfecta, type IE|AMELX amelogenesis imperfecta|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|X-linked enamel hypoplasia|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|amelogenesis imperfecta, X-linked 1|amelogenesis imperfecta caused by mutation in AMELX|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|enamel hypoplasia, X-linked|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|enamel hypoplasia X-linked|amelogenesis imperfecta, type 1E|amelogenesis imperfecta type IE					Editor note:						OMIM:301200|DOID:0110058|GARD:0009943|ICD10:K00.5														https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1				owl:Class
MONDO:0013539	biolink:NamedThing	hypotonia-failure to thrive-microcephaly syndrome	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	mondoexuq1wtf	leukotriene C4 synthase deficiency|LTC4 synthase deficiency											SCTID:717185008|OMIM:614037|UMLS:C3279662|MESH:C565439|Orphanet:79507																		owl:Class
MONDO:0014480	biolink:NamedThing	46,XY sex reversal 9		mondoexuq1wtf	46,XY sex reversal 9|SRXY9|46,XY Sex reversal type 9|46,XY Sex reversal, Zfpm2-related|46,XY SEX reversal 9											DOID:0111770|UMLS:C4015129|OMIM:616067																		owl:Class
MONDO:0006451	biolink:NamedThing	thymic carcinoma	Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.	mondoexuq1wtf	THYC|type C thymoma|thymoma, malignant (morphologic abnormality)|malignant thymoma|thymoma, malignant|thymic carcinoma (excluding well differentiated thymic carcinoma)|thymoma type C|thymoma, type C (morphologic abnormality)|thymic carcinoma excluding well differentiated thymic carcinoma|carcinoma of thymus|thymoma, type C|thymus carcinoma|thymic carcinoma											ONCOTREE:THYC|UMLS:C0205969|ICDO:8586/3|UMLS:CN207411|EFO:1000576|NCIT:C7569|UMLS:C1322286|ICD10:C37|MedDRA:10061031|DOID:3284|DOID:4554|SCTID:444374006|GARD:0011952|Orphanet:99868																		owl:Class
MONDO:0018750	biolink:NamedThing	class I glucose-6-phosphate dehydrogenase deficiency		mondoexuq1wtf	hemolytic anemia due to G6PD deficiency|severe hemolytic anemia due to G6PD deficiency|Class I G6PD deficiency											Orphanet:466026																		owl:Class
MONDO:0010480	biolink:NamedThing	anemia, nonspherocytic hemolytic, due to G6PD deficiency		mondoexuq1wtf	anemia, nonspherocytic hemolytic, due to G6PD deficiency											UMLS:C2720289|MESH:C567533|OMIM:300908																		owl:Class
MONDO:0008474	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal dominant	Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.	mondoexuq1wtf	autosomal dominant spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal dominant											GARD:0010624|OMIM:184100|MESH:C566658|UMLS:C1866717														https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda				owl:Class
MONDO:0005813	biolink:NamedThing	interdigitating dendritic cell sarcoma	A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)	mondoexuq1wtf	interdigitating Dendritic cell sarcoma/tumor|interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma/tumor											NCIT:C9282|MESH:D054739|ONCOTREE:IDCS|ICDO:9757/1|ICDO:9757/3|ICD10:C96.4|DOID:7848|EFO:0007329|SCTID:715664005																		owl:Class
MONDO:0005792	biolink:NamedThing	herpes simplex virus gingivostomatitis	Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.	mondoexuq1wtf	Gingivostomatitides, herpetic|Stomatitides, herpetic|Gingivostomatitis, herpetic|Simplexvirus caused stomatitis|oral Herpes simplex|Simplexvirus stomatitis|Herpes simplex, oral|herpetic Gingivostomatitides|herpetic stomatitis|herpetic Gingivostomatitis|simplex, oral Herpes|herpetic Stomatitides											SCTID:57920007|EFO:0007307|MESH:D013283																		owl:Class
MONDO:0004842	biolink:NamedThing	stomatitis	Inflammation of the oral mucosa due to local or systemic factors.	mondoexuq1wtf	mucositis oral|mouth mucosa inflammation|oral mucositis|inflammation of mouth mucosa											MESH:D013280|UMLS:C0038362|NCIT:C26887|EFO:1001904|UMLS:C1568868|COHD:138455|DOID:9637|ICD9:528.0|ICD9:528.00|SCTID:61170000|ICD10:K12.1																		owl:Class
MONDO:0016664	biolink:NamedThing	drug-induced vasculitis	A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.	mondoexuq1wtf	drug induced cutaneous vasculitis|drug induced vasculitis											Orphanet:251325|UMLS:C3812646|NCIT:C112204|ICD10:M31.8																		owl:Class
MONDO:0018640	biolink:NamedThing	secondary vasculitis		mondoexuq1wtf												Orphanet:445197																		owl:Class
MONDO:0017840	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.	mondoexuq1wtf	classic 21-OHD CAH, simple virilizing form											Orphanet:315311|ICD10:E25.0																		owl:Class
MONDO:0012677	biolink:NamedThing	atrial fibrillation, familial, 4	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.	mondoexuq1wtf	atrial fibrillation, familial, type 4|atrial fibrillation, familial, 4|ATFB4|KCNE2 familial atrial fibrillation|familial atrial fibrillation caused by mutation in KCNE2											UMLS:C1862394|OMIM:611493|MESH:C566244																		owl:Class
MONDO:0011030	biolink:NamedThing	epithelial basolateral chloride conductance regulator, rabbit, homolog of		mondoexuq1wtf	epithelial basolateral chloride conductance regulator, rabbit, homolog of|Ebcr											OMIM:601315																		owl:Class
MONDO:0024291	biolink:NamedThing	vascular malformation	A non-neoplastic disorder that is the result of defects of vascular morphogenesis.	mondoexuq1wtf	vascular malformation|malformations, vascular|malformation, vascular					The majority are present at birth. Some can be acquired.						MESH:D054079																		owl:Class
MONDO:0011997	biolink:NamedThing	Hermansky-Pudlak syndrome 2	Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.	mondoexuq1wtf	HPS2|AP3B1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome with neutropenia|Hermansky-Pudlak syndrome 2|Platelet defects and oculocutaneous albinism											GARD:0009435|ICD10:E70.3|Orphanet:183678|UMLS:C1842362|OMIM:608233|MESH:C537709|NCIT:C150368|DOID:0060540														https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2				owl:Class
MONDO:0003945	biolink:NamedThing	bone epithelioid hemangioma	A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.	mondoexuq1wtf	epithelioid angioma of bone|epithelioid hemangioma of the bone|hemangioma of bone|bone epithelioid angioma|osseous epithelioid hemangioma|epithelioid hemangioma of bone|epithelioid angioma of the bone|osseous hemangioma|bone hemangioma|bone epithelioid hemangioma|osseous epithelioid angioma					Editor note: DO classifies this as benign						UMLS:C1332575|EFO:1000132|NCIT:C5396|DOID:6610|UMLS:C1332578																		owl:Class
MONDO:0021169	biolink:NamedThing	epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells.	mondoexuq1wtf	epithelioid haemangioma|epithelioid hemangioma|histiocytoid hemangioma											ICDO:9125/0|DOID:474|NCIT:C4298|UMLS:C0205788																		owl:Class
MONDO:0008858	biolink:NamedThing	Behr syndrome	Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.	mondoexuq1wtf	optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|BEHRS|optic atrophy, infantile hereditary, with neurologic abnormalities|Behr syndrome|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|optic atrophy, infantile hereditary, Behr complicated form of					Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form						UMLS:C0221061|SCTID:718221007|DOID:0111580|OMIM:210000|MESH:C537669|ICD10:H35.5|GARD:0000849|Orphanet:1239														https://rarediseases.info.nih.gov/diseases/849/behr-syndrome				owl:Class
MONDO:0002305	biolink:NamedThing	thrombophilia	A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.	mondoexuq1wtf	excessive blood clotting|hypercoagulability state|hypercoagulable|hypercoagulability											ICD10:D68.59|UMLS:C0398623|COHD:4295287|SCTID:234467004|NCIT:C84479|ICD9:286.9|DOID:2452|MESH:D019851																		owl:Class
MONDO:0004580	biolink:NamedThing	retinal degeneration	Degeneration of the retina.	mondoexuq1wtf	degeneration of retina|retina, Degeneration Of|retina degeneration											NCIT:C34979|DOID:8466|MESH:D012162|SCTID:95695004																		owl:Class
MONDO:0011779	biolink:NamedThing	laryngeal atresia, encephalocele, and limb deformities		mondoexuq1wtf	laryngeal atresia, encephalocele, and limb deformities|Lel											MESH:C564620|OMIM:607132|UMLS:C1846721																		owl:Class
MONDO:0006312	biolink:NamedThing	myofibroma	A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	mondoexuq1wtf	myofibroma|myofibroma (morphologic abnormality)|infantile hemangiopericytoma|lipoleiomyoma											EFO:1000389|NCIT:C7052|ONCOTREE:MF|MESH:D047708|UMLS:C1266121|ICDO:8824/0|DOID:4386																		owl:Class
MONDO:0016738	biolink:NamedThing	primary germ cell tumor of central nervous system		mondoexuq1wtf	primary germ cell tumor of CNS											UMLS:CN201986|Orphanet:251995																		owl:Class
MONDO:0012759	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 3	Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.	mondoexuq1wtf	camptodactyly syndrome, Guadalajara, type III|camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome Guadalajara type 3											Orphanet:488434|OMIM:611929|MESH:C567455|UMLS:C2677809|GARD:0010573														https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3				owl:Class
MONDO:0018619	biolink:NamedThing	hyperinsulinemic hypoglycaemia		mondoexuq1wtf	hyperinsulinemia hypoglycemia											OMIMPS:256450|Orphanet:443095																		owl:Class
MONDO:0009437	biolink:NamedThing	Bamforth-Lazarus syndrome	Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	mondoexuq1wtf	hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|Bamforth-Lazarus syndrome|Bamforth syndrome|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|hypothyroidism-cleft palate syndrome|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome											SCTID:722375007|GARD:0000414|OMIM:241850|Orphanet:1226|MESH:C537901|ICD10:E03.1|DOID:0050655																		owl:Class
MONDO:0019870	biolink:NamedThing	distal trisomy 1p36	Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.	mondoexuq1wtf	distal duplication 1p36|trisomy 1pter|telomeric duplication 1p36|distal trisomy type 1p36											SCTID:766053003|Orphanet:96069|ICD10:Q92.3|UMLS:CN244049																		owl:Class
MONDO:0017012	biolink:NamedThing	partial duplication of the short arm of chromosome 1		mondoexuq1wtf	partial duplication of the short arm of chromosome type 1|partial duplication of chromosome 1p|partial trisomy of chromosome 1p											Orphanet:264431																		owl:Class
MONDO:0000766	biolink:NamedThing	corneal endothelial dystrophy	A corneal dystrophy (disease) that involves the corneal epithelium.	mondoexuq1wtf	corneal dystrophy (disease) of corneal epithelium|corneal epithelium corneal dystrophy (disease)|endothelial dystrophy											DOID:0060443|COHD:443740|SCTID:416960004|ICD9:371.57																		owl:Class
MONDO:0011481	biolink:NamedThing	craniosynostosis 2	A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	mondoexuq1wtf	craniosynostosis type 2|craniosynostosis Warman type|MSX2-related craniosynostosis|Warman Mulliken Hayward syndrome|CRS2|craniosynostosis 2|craniosynostosis, Warman type|Warman-Mulliken-Hayward syndrome											Orphanet:1541|OMIM:604757|ICD10:Q75.8|GARD:0005538|SCTID:720817008																		owl:Class
MONDO:0001501	biolink:NamedThing	retroperitoneal sarcoma	A sarcoma involving a retroperitoneal space.	mondoexuq1wtf	retroperitoneal sarcoma|sarcoma of retroperitoneal space|retroperitoneal space sarcoma											DOID:12341|NCIT:C4832|SCTID:307219002|UMLS:C0585129																		owl:Class
MONDO:0016344	biolink:NamedThing	hydranencephaly	A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.	mondoexuq1wtf	hydranencephaly|Hydroanencephaly|hydranencephaly (disease)		hydranencephaly (disease)									Orphanet:2177|GARD:0006681|DOID:4626|UMLS:C0020225|NCIT:C98949|ICD10:Q04.3|SCTID:30023002|HP:0002324|MESH:D006832																		owl:Class
MONDO:0017103	biolink:NamedThing	encephaloclastic disorder		mondoexuq1wtf												UMLS:CN227080|Orphanet:269190																		owl:Class
MONDO:0021260	biolink:NamedThing	sensory ganglionopathy	A disease or disorder that involves the sensory ganglion.	mondoexuq1wtf	sensory ganglion disease|disorder of sensory ganglion|sensory ganglion disease or disorder|disease of sensory ganglion|disease or disorder of sensory ganglion																													owl:Class
MONDO:0044972	biolink:NamedThing	eosinophil disease	A disease or disorder that involves the eosinophil.	mondoexuq1wtf	disorder of eosinophil|eosinophil disease or disorder|disease of eosinophil|disease or disorder of eosinophil											SCTID:417967008|UMLS:C1691020																		owl:Class
MONDO:0000919	biolink:NamedThing	ampulla of vater cancer	A primary or metastatic malignant neoplasm involving the ampulla of Vater.	mondoexuq1wtf	malignant tumor of the ampulla of Vater|malignant ampulla of Vater neoplasm|malignant tumour of ampulla of vater|malignant hepatopancreatic ampulla neoplasm|cancer of hepatopancreatic ampulla|malignant neoplasm of the ampulla of Vater|malignant ampulla of Vater tumor|malignant neoplasm of hepatopancreatic ampulla|hepatopancreatic ampulla cancer|malignant tumor of ampulla of Vater|malignant neoplasm of ampulla of Vater											DOID:10020|ICD9:156.2|ICD10:C24.1|UMLS:C0153454|NCIT:C3536|SCTID:363417006																		owl:Class
MONDO:0000921	biolink:NamedThing	ampulla of vater neoplasm	A benign or malignant neoplasm involving the ampulla of Vater.	mondoexuq1wtf	neoplasm of ampulla of Vater|hepatopancreatic ampulla tumor|tumor of ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|tumor of the ampulla of Vater|hepatopancreatic ampulla neoplasm|ampulla of Vater tumor|neoplasm of hepatopancreatic ampulla|neoplasm of the ampulla of Vater|tumor of hepatopancreatic ampulla|AMPULLAOFVATER											UMLS:C0345916|ONCOTREE:AMPULLAOFVATER|DOID:10022|SCTID:126858004|NCIT:C4443																		owl:Class
MONDO:0006507	biolink:NamedThing	hereditary hemochromatosis	An inherited metabolic disorder characterized by iron accumulation in the tissues.	mondoexuq1wtf	haemochromatosis|hemochromatosis|iron storage disorder|hemochromatosis, hereditary|diabetes bronze					Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052						EFO:1000642|DOID:2352|ICD10:E83.11|ICD10:E83.110|COHD:4148231|MESH:D006432|ICD10:E83.119|OMIMPS:235200|SCTID:35400008|GARD:0010746|NCIT:C84481														https://github.com/monarch-initiative/mondo/issues/3557				owl:Class
MONDO:0017763	biolink:NamedThing	disorder of iron metabolism and transport		mondoexuq1wtf												Orphanet:309842|UMLS:CN227206|ICD10:E83.1																		owl:Class
MONDO:0018414	biolink:NamedThing	female infertility due to an implantation defect of genetic origin		mondoexuq1wtf												ICD10:N97.2|Orphanet:400025																		owl:Class
MONDO:0004774	biolink:NamedThing	gonococcal iridocyclitis	An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease)											UMLS:C0153212|ICD10:A54.32|SCTID:9091006|ICD9:098.41|DOID:9384																		owl:Class
MONDO:0004853	biolink:NamedThing	gonococcal endophthalmia		mondoexuq1wtf												DOID:9698|ICD10:A54.39|ICD9:098.42|UMLS:C0153213|SCTID:111807001																		owl:Class
MONDO:0032822	biolink:NamedThing	developmental and epileptic encephalopathy, 80		mondoexuq1wtf	epileptic encephalopathy, early infantile, 80|DEE80|EIEE80|Glycosylphosphatidylinositol Biosynthesis Defect 20|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80											OMIM:618580																		owl:Class
MONDO:0018233	biolink:NamedThing	otopalatodigital syndrome spectrum disorder	Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	mondoexuq1wtf	OPD spectrum disorder|OPSD											UMLS:C2748918|Orphanet:364541|DOID:0111782																		owl:Class
MONDO:0002100	biolink:NamedThing	cardiovascular cancer	A primary or metastatic malignant neoplasm involving the cardiovascular system.	mondoexuq1wtf	cardiovascular system cancer|malignant neoplasm of cardiovascular system|cancer of cardiovascular system|malignant cardiovascular system neoplasm|cardiovascular tumors|cardiovascular neoplasm|malignant cardiovascular neoplasm											UMLS:C0497243|NCIT:C114940|DOID:176|UMLS:C3898472																		owl:Class
MONDO:0003707	biolink:NamedThing	distal biliary tract carcinoma	A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.	mondoexuq1wtf	carcinoma of distal biliary tract|distal bile duct cancer|distal bile duct carcinoma|extrahepatic (distal) bile duct cancer|distal biliary tract carcinoma|carcinoma of the distal biliary tract											NCIT:C7109|DOID:5923|UMLS:C1333308																		owl:Class
MONDO:0007514	biolink:NamedThing	ectopia lentis 1, isolated, autosomal dominant	Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.	mondoexuq1wtf	isolated ectopia lentis caused by mutation in FBN1|autosomal dominant isolated ectopia lentis 1|FBN1 isolated ectopia lentis|ectopia lentis 1, isolated, autosomal dominant|ECTOL1											OMIM:129600|url:https://www.ncbi.nlm.nih.gov/pubmed/15054843|UMLS:C3541518|DOID:0111150																		owl:Class
MONDO:0011136	biolink:NamedThing	Quebec platelet disorder	Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.	mondoexuq1wtf	factor 5 Quebec|factor V Quebec|Quebec platelet disorder|QPD|platelet-type bleeding disorder 5|bleeding disorder, platelet-type, 5|BDPLT5											UMLS:C1866423|ICD10:D69.1|GARD:0008345|Orphanet:220436|MESH:C536260|OMIM:601709|DOID:0111050														https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder				owl:Class
MONDO:0012057	biolink:NamedThing	legionnaire disease, susceptibility to		mondoexuq1wtf	legionnaire's disease|legionnaire disease, susceptibility to|susceptibility to legionnaire disease|Legionella infection											GARD:0006876|OMIM:608556																		owl:Class
MONDO:0014863	biolink:NamedThing	macrocephaly, dysmorphic facies, and psychomotor retardation		mondoexuq1wtf	MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation											OMIM:617011|UMLS:C4310766																		owl:Class
MONDO:0001094	biolink:NamedThing	residual stage of open angle glaucoma		mondoexuq1wtf	residual stage of open angle glaucoma|open-angle glaucoma residual stage											ICD9:365.15|DOID:1066|COHD:437542|ICD10:H40.15|UMLS:C0154944|SCTID:66990007																		owl:Class
MONDO:0013367	biolink:NamedThing	long QT syndrome 2	An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	mondoexuq1wtf	long QT syndrome 2/9, digenic|long QT syndrome 1/2, digenic|long QT syndrome type 2|long QT syndrome 2, acquired, susceptibility to|long QT syndrome 2|long QT syndrome 2/3, digenic|LQT2|long QT syndrome 2/5, digenic											OMIM:613688|GARD:0003285|NCIT:C137957|MESH:C563614|ICD10:I45.8|DOID:0110645|HGNC:6251|UMLS:C3150943														https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2				owl:Class
MONDO:0012199	biolink:NamedThing	posterior polymorphous corneal dystrophy 2	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	mondoexuq1wtf	corneal dystrophy, POSTERIOR polymorphous, 2|corneal dystrophy, posterior polymorphous, type 2|PPCD2|Ppcd2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|COL8A2 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy type 2											UMLS:C1852795|DOID:0110856|ICD10:H18.50|MESH:C565176|OMIM:609140																		owl:Class
MONDO:0014984	biolink:NamedThing	lung disease, immunodeficiency, and chromosome breakage syndrome;		mondoexuq1wtf	lung disease, immunodeficiency, and chromosome breakage syndrome|LICS											UMLS:C4310653|OMIM:617241																		owl:Class
MONDO:0001387	biolink:NamedThing	penile sarcoma	A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.	mondoexuq1wtf	penile sarcoma|sarcoma of the penis|penis sarcoma|sarcoma of penis											NCIT:C7730|UMLS:C0238352|DOID:11838																		owl:Class
MONDO:0015538	biolink:NamedThing	indeterminate dendritic cell tumor	A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.	mondoexuq1wtf	indeterminate dendritic cell tumor|IDCT|indeterminate Dendritic cell tumor|indeterminate cell histiocytosis											Orphanet:158019|NCIT:C81767|UMLS:C2825741|ONCOTREE:IDCT|SCTID:721313009|ICD10:D76.3																		owl:Class
MONDO:0016175	biolink:NamedThing	cutis laxa	Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.	mondoexuq1wtf	cutis laxa|generalized elastolysis|elastolysis|loose skin											SCTID:58588007|COHD:4242416|Orphanet:209|MESH:D003483|NCIT:C84663|MedDRA:10011692|DOID:3144|UMLS:C0010495|GARD:0006227|ICD10:Q82.8														https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa				owl:Class
MONDO:0023154	biolink:NamedThing	fibromatosis multiple non ossifying		mondoexuq1wtf	Jaffe Campanacci syndrome|disseminated nonossifying fibromas in association with cafe-au-lait spots											UMLS:C0796000|GARD:0000309|SCTID:715432009														https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying				owl:Class
MONDO:0013968	biolink:NamedThing	PGM1-CDG		mondoexuq1wtf	CDG-It|type 14 glycogenosis|CDG syndrome type It|Pgm1 deficiency|CDG1T|GSDXIV|phosphoglucomutase deficiency type 1|congenital disorder of glycosylation, type It|CDG it|congenital disorder of glycosylation type 1t|phosphoglucomutase-1 deficiency|GSD 14|glycogen storage disease 14|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation type It|glycogen storage disease due to phosphoglucomutase deficiency|GSD type 14											UMLS:C2752015|ICD10:E77.8|OMIM:614921|MESH:C567859|GARD:0004329|Orphanet:319646|DOID:0080570																		owl:Class
MONDO:0011557	biolink:NamedThing	radiation sensitivity/chromosome instability syndrome, autosomal dominant		mondoexuq1wtf	radiation sensitivity/chromosome instability syndrome, autosomal dominant											UMLS:C1854244|MESH:C565326|OMIM:605463																		owl:Class
MONDO:0010858	biolink:NamedThing	macrocephaly-spastic paraplegia-dysmorphism syndrome	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	mondoexuq1wtf	Fryns macrocephaly|macrocephaly with spastic paraplegia and distinctive craniofacial appearance											ICD10:Q87.8|Orphanet:2429|MESH:C563963|SCTID:716108004|UMLS:C1838281|OMIM:600302																		owl:Class
MONDO:0022908	biolink:NamedThing	cutis gyratum acanthosis nigricans craniosynostosis		mondoexuq1wtf												GARD:0001635														https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis				owl:Class
MONDO:0005861	biolink:NamedThing	multidrug-resistant tuberculosis	Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis.	mondoexuq1wtf	MDR-TB|multidrug-resistant TB											SCTID:423092005|DOID:401|UMLS:C0206526|EFO:0007381|NCIT:C128415|MESH:D018088																		owl:Class
MONDO:0041806	biolink:NamedThing	drug-resistant tuberculosis		mondoexuq1wtf	drug resistant tuberculosis											SCTID:423709000																		owl:Class
MONDO:0018338	biolink:NamedThing	activated PI3K-delta syndrome		mondoexuq1wtf	APDS|senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation											ICD9:279.8|SCTID:711480000|Orphanet:397596|UMLS:C3714976|ICD10:D81.8|GARD:0011983																		owl:Class
MONDO:0044979	biolink:NamedThing	disease by cell type		mondoexuq1wtf																														owl:Class
MONDO:0021197	biolink:NamedThing	disease by cellular component affected		mondoexuq1wtf																														owl:Class
MONDO:0023551	biolink:NamedThing	C1q nephropathy	C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.	mondoexuq1wtf	C1q nephropathy											GARD:0012136|UMLS:C0403434|SCTID:236412002																		owl:Class
MONDO:0009364	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|muscle-eye-brain-POMT1 related|hydrocephalus, agyria, and retinal dysplasia|cerebroocular dysplasia-muscular dystrophy syndrome|hard syndrome|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|MDDGA1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|cod-MD syndrome											UMLS:CN033898|NCIT:C128118|UMLS:C4284790|OMIM:236670|DOID:0111237																		owl:Class
MONDO:0009896	biolink:NamedThing	polymyoclonus, infantile		mondoexuq1wtf	polymyoclonus, infantile											OMIM:263550|MESH:C535524|UMLS:C1849731																		owl:Class
MONDO:0005125	biolink:NamedThing	borderline leprosy	A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.	mondoexuq1wtf	Midborderline leprosy|borderline or dimorphous leprosy|borderline leprosy [group B]											EFO:0001055|ICD9:030.3|ICD10:A30.3|UMLS:C3251797|UMLS:C0023346|MESH:D015439|DOID:1023|SCTID:400154003																		owl:Class
MONDO:0014626	biolink:NamedThing	spinocerebellar ataxia type 41	Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	mondoexuq1wtf	spinocerebellar ataxia type 41|SCA41|spinocerebellar ataxia 41											Orphanet:458798|UMLS:C4225158|DOID:0111744|ICD10:G11.2|OMIM:616410|EFO:0009058																		owl:Class
MONDO:0012084	biolink:NamedThing	aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.	mondoexuq1wtf	aromatic L-amino-acid decarboxylase deficiency|DDC deficiency|Dopa decarboxylase deficiency|AADC deficiency|Aadc deficiency|aromatic amino acid decarboxylase deficiency|aromatic L-amino acid decarboxylase deficiency											SCTID:237922009|GARD:0000770|NCIT:C142085|OMIM:608643|ICD9:270.8|Orphanet:35708|ICD10:G24.8|DOID:0090123|MESH:C537437|GARD:770														https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency				owl:Class
MONDO:0012653	biolink:NamedThing	persistent hyperplastic primary vitreous, autosomal dominant		mondoexuq1wtf	persistent hyperplastic primary vitreous, autosomal dominant|PHPVAD											OMIM:611308|UMLS:C1969784																		owl:Class
MONDO:0019631	biolink:NamedThing	persistent hyperplastic primary vitreous	A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)	mondoexuq1wtf	PFVS|persistent fetal vasculature syndrome|ncRNA disease|non-syndromic congenital retinal non-attachment|PHPV|congenital retinal detachment											ICD10:Q14.0|MESH:D054514|SCTID:314270008|DOID:0060282|Orphanet:91495|OMIMPS:221900																		owl:Class
MONDO:0017291	biolink:NamedThing	reversible cerebral vasoconstriction syndrome	Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.	mondoexuq1wtf	RCVS											ICD9:437.8|ICD10:I67.8|GARD:0012768|UMLS:C3544214|SCTID:700467001|Orphanet:284388														https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome				owl:Class
MONDO:0021146	biolink:NamedThing	headache disorder	Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)	mondoexuq1wtf	headache, chronic daily|syndrome, headache|headache, chronic|chronic headache|chronic daily headache|headache syndromes|headache disorder|cephalgia syndromes|headaches, chronic|headaches, intractable|daily headache, chronic|chronic daily headaches|daily headaches, chronic|headache syndrome|headache, intractable|intractable headache|cephalgia syndrome|headaches, chronic daily|chronic headaches|intractable headaches											MESH:D020773|COHD:375527|SCTID:230461009																		owl:Class
MONDO:0020284	biolink:NamedThing	heart position anomaly		mondoexuq1wtf												Orphanet:98716																		owl:Class
MONDO:0020586	biolink:NamedThing	factor V deficiency	A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.	mondoexuq1wtf	factor V deficiency											NCIT:C131738|SCTID:4320005																		owl:Class
MONDO:0010489	biolink:NamedThing	intellectual disability, X-linked 101	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.	mondoexuq1wtf	mental retardation, X-linked type 101|non-syndromic X-linked intellectual disability caused by mutation in MID2|MRX101|intellectual disability, X-linked 101|intellectual disability, X-linked type 101|mental retardation, X-linked 101|MID2 non-syndromic X-linked intellectual disability											OMIM:300928|UMLS:C3890168																		owl:Class
MONDO:0017576	biolink:NamedThing	46,XX disorder of sex development	Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.	mondoexuq1wtf	female pseudohermaphroditism|46,XX DSD|46,XX disorders of Sex development|46,XX differences of Sex development											Orphanet:2982|NCIT:C127169|SCTID:8800006|MESH:D058489|UMLS:CN776919|ICD10:Q56.2|UMLS:C2936403																		owl:Class
MONDO:0007946	biolink:NamedThing	jaw-winking syndrome	Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.	mondoexuq1wtf	jaw-winking syndrome|Maxillopalpebral synkinesis|Marcus-Gunn syndrome|pterygoid-levator synkinesis|abnormal innervation syndrome of eyelid|Marcus Gunn syndrome|Marcus-Gunn phenomenon|mandibulo-palpebral synkinesis-ptosis syndrome|Marcus Gunn phenomenon|jaw-winking|familial Marcus Gunn phenomenon (subtype)|jaw-blinking											ICD9:742.8|UMLS:C0266521|SCTID:5127009|Orphanet:91412|DOID:560|ICD10:Q07.8|GARD:0006972|OMIM:154600|MedDRA:10064583|MESH:C535908|ICD9:374.43																		owl:Class
MONDO:0002833	biolink:NamedThing	fallopian tube transitional cell carcinoma	A rare transitional cell carcinoma that arises from the fallopian tube.	mondoexuq1wtf	fallopian tube transitional cell cancer|fallopian tube transitional cell carcinoma											DOID:4008|UMLS:C1517128|NCIT:C40104																		owl:Class
MONDO:0011502	biolink:NamedThing	Wolfram syndrome 2	Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.	mondoexuq1wtf	CISD2 Wolfram syndrome|Wolfram syndrome 2|WFS2|WOLFRAM syndrome 2|Wolfram syndrome caused by mutation in CISD2|Wolfram syndrome type 2											OMIM:604928|MESH:C565733|ICD10:E13.8|DOID:0110630|UMLS:C1858028																		owl:Class
MONDO:0018105	biolink:NamedThing	Wolfram syndrome	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).	mondoexuq1wtf	WFS|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome|diabetes mellitus and insipidus with optic atrophy and deafness|DIDMOAD|DIDMOAD syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome											NCIT:C35133|DOID:10632|SCTID:70694009|UMLS:CN184630|GARD:0007898|Orphanet:3463|ICD9:250.80|ICD10:E13.8|MESH:D014929|UMLS:C0043207																		owl:Class
MONDO:0008066	biolink:NamedThing	nasal hyperpigmentation, familial transverse		mondoexuq1wtf	nasal hyperpigmentation, familial transverse											UMLS:C1834369|OMIM:161530																		owl:Class
MONDO:0008044	biolink:NamedThing	myoclonic dystonia 11	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.	mondoexuq1wtf	DYT11|SGCE myoclonus-dystonia syndrome|alcohol-responsive dystonia|myoclonus-dystonia syndrome caused by mutation in SGCE|myoclonus-dystonia syndrome|myoclonus, hereditary essential|myoclonic dystonia type 11|dystonia, alcohol-responsive|dystonia 11, myoclonic|myoclonic dystonia											ICD10:G24.1|OMIM:159900|DOID:0090034																		owl:Class
MONDO:0005731	biolink:NamedThing	dipetalonemiasis	A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.	mondoexuq1wtf	Dipetalonema infectious disease|infection by Dipetalonema perstans (disorder) [ambiguous]|infection by Dipetalonema|Mansonella perstans disease or disorder|Mansonella perstans caused disease or disorder|Dipetalonema infection|Dipetalonema infections|Mansonella perstans|Acanthocheilonemiasis|Acanthocheilonema perstans infection|dipetalonemiasis|Mansonella perstans infectious disease|infection by Dipetalonema perstans					Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms						MESH:D004154|NCIT:C34540|EFO:0007237|ICD9:125.4|GARD:0000004|UMLS:C0012517|SCTID:15629006|DOID:14422																		owl:Class
MONDO:0004093	biolink:NamedThing	esophageal basaloid carcinoma	A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)	mondoexuq1wtf	esophageal basaloid squamous cell carcinoma|esophageal basaloid cancer|esophageal basaloid carcinoma|basaloid squamous carcinoma of the esophagus|basaloid squamous carcinoma of esophagus											UMLS:C1333443|DOID:7051|NCIT:C7032																		owl:Class
MONDO:0010911	biolink:NamedThing	prolactin-producing pituitary gland adenoma	Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.	mondoexuq1wtf	prolactinoma of the pituitary|lactotroph adenoma|prolactin secreting adenoma of pituitary gland|lactotrope adenoma|prolactin secreting adenoma of the pituitary|prolactin secreting pituitary adenoma|prolactin producing adenoma of pituitary|prolactin-producing pituitary gland adenoma|PRL producing pituitary gland adenoma|prolactin producing pituitary adenoma|pituitary adenoma, prolactin-secreting|prolactin-secreting pituitary adenoma|pituitary prolactinoma|prolactin producing adenoma of the pituitary|lactotroph cell adenoma|prolactin secreting adenoma of the pituitary gland|prolactinoma of the pituitary gland|familial prolactinoma|pituitary lactotrophic adenoma|prolactinoma|prolactinoma of pituitary|prolactinoma of pituitary gland|prolactin secreting adenoma|prolactin producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|pituitary gland prolactinoma|PRLoma|prolactin secreting pituitary gland adenoma|prolactin secreting adenoma of pituitary|prolactin producing adenoma of the pituitary gland|prolactinoma, familial|prolactin producing adenoma of pituitary gland|PRL-secreting pituitary adenoma											MESH:D015175|NCIT:C3342|EFO:1000496|ICDO:8271/0|SCTID:134209002|MedDRA:10036832|Orphanet:2965|GARD:0004508|ICD10:E22.1|DOID:5394|OMIM:600634|ICD10:D35.2|UMLS:C0033375																		owl:Class
MONDO:0003472	biolink:NamedThing	lice infestation	A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.	mondoexuq1wtf	mixed pediculosis|Pediculus humanus infection|pediculosis and Phthirus infections|pediculosis|pediculosis and Phthirus infection|pediculosis and Phthirus infestation|infections, Pediculus humanus|louse infestation (& [pediculosis and Phthirus] or [lice])|louse infestation|pediculosis, unspecified|mixed pediculosis infestation|pediculosis + lice|infestation by Pediculus											NCIT:C128401|DOID:5502|ICD9:132.9|UMLS:C0030756|COHD:132253|UMLS:C0153317|UMLS:C0277351|MESH:D010373|ICD10:B85.2																		owl:Class
MONDO:0014778	biolink:NamedThing	Lamb-Shaffer syndrome		mondoexuq1wtf	Lamb-Shaffer syndrome; LAMSHF|Lamb-Shaffer syndrome|LAMSHF											Orphanet:530983|UMLS:C4225202|OMIM:616803																		owl:Class
MONDO:0034987	biolink:NamedThing	intraductal tubulopapillary neoplasm of pancreas		mondoexuq1wtf												Orphanet:580572																		owl:Class
MONDO:0021040	biolink:NamedThing	pancreatic neoplasm	A benign or malignant neoplasm involving the pancreas.	mondoexuq1wtf	tumor of the pancreas|pancreas neoplasm|pancreas tumor|pancreas|pancreas neoplasm (disease)|neoplasm of the pancreas|pancreatic neoplasm|neoplasm of pancreas|pancreatic tumor|tumor of pancreas											MESH:D010190|SCTID:126859007|EFO:0003860|ONCOTREE:PANCREAS|NCIT:C3305																		owl:Class
MONDO:0019329	biolink:NamedThing	microcystic lymphatic malformation		mondoexuq1wtf	cutaneous lymphangioma circumscriptum|microcystic lymphangioma|superficial lymphatic malformation|capillary lymphangioma|microcystic infiltrating lymphatic malformation|superficial lymphangioma|capillary lymphatic malformation											GARD:0013020|Orphanet:79490|ICD10:D18.1																		owl:Class
MONDO:0018720	biolink:NamedThing	common cystic lymphatic malformation		mondoexuq1wtf												Orphanet:458833																		owl:Class
MONDO:0020686	biolink:NamedThing	acute tonsillitis	An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.	mondoexuq1wtf	acute tonsillitis|infective tonsillitis|acute adenoiditis											NCIT:C97142|SCTID:17741008|UMLS:C0001361|ICD9:463																		owl:Class
MONDO:0004832	biolink:NamedThing	esophagus leiomyoma	A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.	mondoexuq1wtf	leiomyoma of the esophagus|esophagus leiomyoma|leiomyoma of esophagus|esophageal leiomyoma											DOID:960|NCIT:C3866|SCTID:276805005|UMLS:C0238114																		owl:Class
MONDO:0004941	biolink:NamedThing	eosinophilia-myalgia syndrome	A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)	mondoexuq1wtf	L-tryptophan induced EMS|severe muscle pain and abnormally high eosinophils|EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|eosinophilia myalgia syndrome											ICD9:710.5|COHD:258828|SCTID:95416007|MESH:D016603|DOID:998|GARD:0006345|EFO:1001316														https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome				owl:Class
MONDO:0001503	biolink:NamedThing	primary eye hypotony		mondoexuq1wtf	primary hypotony of eye											UMLS:C0154782|ICD9:360.31|SCTID:2251002|COHD:374346|ICD10:H44.44|DOID:12349																		owl:Class
MONDO:0004390	biolink:NamedThing	ocular hypotension	Abnormally low intraocular pressure often related to chronic inflammation (uveitis).	mondoexuq1wtf	hypotony of eye											ICD9:360.3|ICD9:360.30|COHD:376107|UMLS:C0028841|ICD10:H44.40|ICD10:H44.4|SCTID:19721008|MESH:D015814|DOID:790																		owl:Class
MONDO:0004719	biolink:NamedThing	hard palate cancer	A malignant neoplasm involving the hard palate.	mondoexuq1wtf	malignant neoplasm of the hard palate|cancer of hard palate|hard palate cancer|malignant tumor of hard palate|hard palate|malignant hard palate tumor|malignant hard palate neoplasm|malignant neoplasm of hard palate|malignant tumor of the hard palate|malignant tumour of hard palate											ICD10:C05.0|NCIT:C3528|SCTID:363387004|ICD9:145.2|UMLS:C0153375|DOID:9149																		owl:Class
MONDO:0005286	biolink:NamedThing	palatal neoplasm	A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.	mondoexuq1wtf	secondary palate tumor|neoplasm of palate|tumor of the palate|tumor of palate|neoplasm of the palate|secondary palate neoplasm (disease)|neoplasm of secondary palate|tumor of secondary palate|palate tumor|palate neoplasm|secondary palate neoplasm											UMLS:C0030215|NCIT:C4402|MESH:D010157|SCTID:126805009|EFO:0003849																		owl:Class
MONDO:0017286	biolink:NamedThing	tempi syndrome	TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.	mondoexuq1wtf	telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting|telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome											GARD:0010962|Orphanet:284227|UMLS:C3854394|NCIT:C121656|SCTID:718614004														https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome				owl:Class
MONDO:0007389	biolink:NamedThing	spondylocostal dysostosis 5	Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.	mondoexuq1wtf	spondylocostal dysostosis 5|TBX6 spondylocostal dysostosis|spondylocostal dysostosis caused by mutation in TBX6|costovertebral segmentation anomalies|spondylothoracic dysostosis|spondylocostal dysostosis type 5|spondylocostal dysplasia|SCDO5|polydysspondyly|scoliosis, congenital, with or without rib anomalies					May be AD or AR						GARD:0012806|OMIM:122600|UMLS:C4083048																		owl:Class
MONDO:0010745	biolink:NamedThing	beta-thalassemia-X-linked thrombocytopenia syndrome	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	mondoexuq1wtf	XLTT|thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|thrombocytopenia with BETA-thalassemia, X-linked|X-linked thrombocytopenia with Beta-thalassemia											ICD10:D69.4|MESH:C564050|NCIT:C134941|OMIM:314050|UMLS:C1839161|SCTID:718196002|Orphanet:231393|DOID:0111767																		owl:Class
MONDO:0009530	biolink:NamedThing	lipoid proteinosis	Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.	mondoexuq1wtf	Urbach Wiethe disease|hyalinosis cutis Et mucosae|hyalinosis cutis et mucosae|lipoid proteinosis of Urbach and Wiethe|lipid proteinosis|Urbach-Wiethe disease|lipoid proteinosis|lipoproteinosis											Orphanet:530|SCTID:38692000|NCIT:C84829|MESH:D008065|ICD9:272.8|UMLS:C0023795|GARD:0003268|ICD10:E78.8|OMIM:247100|DOID:14498																		owl:Class
MONDO:0020306	biolink:NamedThing	absent tibia-polydactyly syndrome	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	mondoexuq1wtf	tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|absence of tibia with polydactyly|polydactyly with absent tibia											ICD10:Q87.2|UMLS:C1861099|Orphanet:988|GARD:0008309|MESH:C535564																		owl:Class
MONDO:0001198	biolink:NamedThing	acquired thrombocytopenia	An instance of thrombocytopenia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired thrombocytopenia|secondary thrombocytopenia											ICD10:D69.5|ICD9:287.4|SCTID:74576004|UMLS:C0154301|COHD:440372|DOID:11126																		owl:Class
MONDO:0008250	biolink:NamedThing	isolated growth hormone deficiency type II		mondoexuq1wtf	congenital IGHD type II|congenital isolated GH deficiency type II|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|Growth hormone deficiency, isolated, autosomal dominant|autosomal dominant isolated growth hormone deficiency|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|isolated growth hormone deficiency type 2|isolated Growth hormone deficiency, type 2|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|congenital isolated growth hormone deficiency type II|isolated growth hormone deficiency, type II|Growth hormone deficiency, isolated autosomal dominant|IGHD2|IGHD 2|IGHD II											DOID:0060872|Orphanet:231679|UMLS:C0271567|SCTID:237687003|MESH:C562704|ICD10:E23.0|OMIM:173100|GARD:0001696														https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2				owl:Class
MONDO:0010359	biolink:NamedThing	Dent disease type 2	Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.	mondoexuq1wtf	OCRL Dent disease|DENT disease 2|nephrolithiasis type 2|Dent disease type 2|Dent disease caused by mutation in OCRL											SCTID:717790004|Orphanet:93623|UMLS:C4305529|UMLS:C1845167|MESH:C564487|ICD10:N25.8|OMIM:300555																		owl:Class
MONDO:0015666	biolink:NamedThing	familial idiopathic dilatation of the right atrium	Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	mondoexuq1wtf	familial idiopathic dilatation of the right atrium (disease)		familial idiopathic dilatation of the right atrium (disease)									Orphanet:1677|UMLS:CN200093|ICD10:Q20.8|SCTID:716773002																		owl:Class
MONDO:0018913	biolink:NamedThing	malakoplakia	Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.	mondoexuq1wtf	malacoplakia											NCIT:C84833|MESH:D008287|Orphanet:556|GARD:0006960|EFO:1001807|SCTID:716766007														https://rarediseases.info.nih.gov/diseases/6960/malakoplakia				owl:Class
MONDO:0001974	biolink:NamedThing	hemangioma of orbit	A hemangioma arising from the orbit.	mondoexuq1wtf	angioma of orbit|angioma of the orbit|orbit hemangioma|orbit angioma|hemangioma of the orbit											SCTID:121951000119101|UMLS:C1335128|NCIT:C6245|DOID:14459|ICD9:228.09																		owl:Class
MONDO:0020403	biolink:NamedThing	congenital mitral valve agenesis	Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.	mondoexuq1wtf												Orphanet:99062|ICD10:Q23.3																		owl:Class
MONDO:0054802	biolink:NamedThing	erythrocytosis, familial, 7		mondoexuq1wtf	erythrocytosis, FAMILIAL, 7|erythrocytosis, Alpha-globin type|ECYT7|polycythemia, Alpha-globin type											UMLS:CN244942|DOID:0111631|OMIM:617981																		owl:Class
MONDO:0044877	biolink:NamedThing	paraneoplastic cerebellar degeneration	A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.	mondoexuq1wtf	paraneoplastic cerebellar Degeneration											NCIT:C4685																		owl:Class
MONDO:0022687	biolink:NamedThing	cerebellar degeneration	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.	mondoexuq1wtf	cerebellar degeneration|cerebral degeneration|neurodegenerative disease of cerebellum|Brain degeneration|cerebellar Degeneration|cerebellum neurodegenerative disease											GARD:0006019|NCIT:C84624|SCTID:95646004|UMLS:C0262404|DOID:1443|ICD9:331.9														https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration				owl:Class
MONDO:0044727	biolink:NamedThing	pancreatic carcinoma with mixed differentiation	A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.	mondoexuq1wtf	MiNEN of pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|mixed exocrine-endocrine carcinoma of the pancreas|pancreatic carcinoma with mixed differentiation|pancreatic MiNEN											UMLS:C1709050|NCIT:C45843|Orphanet:506112																		owl:Class
MONDO:0010181	biolink:NamedThing	oculogastrointestinal muscular dystrophy	Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.	mondoexuq1wtf	visceral myopathy - familial external ophthalmoplegia|visceral myopathy-familial external ophthalmoplegia syndrome|intestinal pseudoobstruction with external ophthalmoplegia|muscular dystrophy, oculogastrointestinal|familial visceral myopathy with external ophthalmoplegia|visceral myopathy, familial, with external ophthalmoplegia											GARD:0005496|SCTID:722060007|OMIM:277320|Orphanet:1876|ICD10:G71.0																		owl:Class
MONDO:0013320	biolink:NamedThing	chromosome 16p12.2-p11.2 deletion syndrome	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	mondoexuq1wtf	Del(16)(p11.2p12.2)|16p11.2-p12.2 microdeletion syndrome|monosomy 16p11.2-p12.2|monosomy 16p11.2p12.2|16p11.2p12.2 microdeletion syndrome|chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB											SCTID:719576009|OMIM:613604|UMLS:C4304597|ICD10:Q93.5|Orphanet:261211|DOID:0060400|UMLS:C3150858																		owl:Class
MONDO:0020806	biolink:NamedThing	sinoatrial block	A heart block that is initiated in the sinoatrial node.	mondoexuq1wtf												SCTID:65778007																		owl:Class
MONDO:0017794	biolink:NamedThing	Xq12-q13.3 duplication syndrome	Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	mondoexuq1wtf	dup(X)(q12-q13.3)											UMLS:CN203749|ICD10:Q99.8|Orphanet:314389|SCTID:764711007																		owl:Class
MONDO:0017056	biolink:NamedThing	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		mondoexuq1wtf	21q22.13q22.2 microdeletion syndrome|monosomy 21q22.13-q22.2|monosomy 21q22.13q22.2|Del(21)(q22.13q22.2)|21q22.13-q22.2 microdeletion syndrome											Orphanet:268261|ICD10:Q93.5|UMLS:CN202414																		owl:Class
MONDO:0009787	biolink:NamedThing	3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.	mondoexuq1wtf	MGA3|autosomal recessive optic atrophy type 3|Iraqi Jewish optic atrophy plus|3-alpha methylglutaconic aciduria type III|OPA3 defect|optic atrophy 3, autosomal recessive|3-methylglutaconic aciduria caused by mutation in OPA3|optic atrophy, infantile, with chorea and spastic paraplegia|MGCA3|infantile optic atrophy with chorea and spastic paraplegia|optic atrophy plus syndrome|3-methylglutaconic aciduria, type III|optic atrophy infantile with chorea and spastic paraplegia|Iraqi-Jewish optic atrophy plus|3-methylglutaconic aciduria type III|3-methylglutaconic aciduria, type 3|Costeff syndrome|Iraqi-Jewish 'optic atrophy plus'|autosomal recessive optic atrophy plus syndrome|MGA, type 3|MGA type III|OPA3, autosomal recessive|OPA3 3-methylglutaconic aciduria|Costeff optic atrophy syndrome											MESH:C535311|SCTID:297232009|GARD:0005663|ICD10:E71.1|DOID:0110004|Orphanet:67047|OMIM:258501|UMLS:C0574084																		owl:Class
MONDO:0021355	biolink:NamedThing	neoplasm of esophagus	A neoplasm (disease) that involves the esophagus.	mondoexuq1wtf	esophagus neoplasm|tumor of the esophagus|esophageal neoplasm|esophageal neoplasms, benign and malignant|esophageal tumor|esophagus tumor|neoplasm of the esophagus|esophagus neoplasm (disease)|esophageal tumors|tumor of esophagus|neoplasm of esophagus											SCTID:126817006|UMLS:C0014859|NCIT:C3028																		owl:Class
MONDO:0012405	biolink:NamedThing	polyposis syndrome, hereditary mixed, 2	Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.	mondoexuq1wtf	HMPS2|polyposis syndrome, hereditary mixed, type 2|polyposis syndrome, hereditary mixed, 2|BMPR1A hereditary mixed polyposis syndrome|hereditary mixed polyposis syndrome caused by mutation in BMPR1A											UMLS:C1864730|DOID:0111686|OMIM:610069|MESH:C566451																		owl:Class
MONDO:0010090	biolink:NamedThing	Summitt syndrome	Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.	mondoexuq1wtf	Summitt syndrome|Summitt's acrocephalosyndactyly|recessive acrocephalosyndactyly with normal intelligence											ICD10:Q82.0|MESH:C538142|OMIM:272350|SCTID:733606001|GARD:0000127|UMLS:C1802405|Orphanet:3210														https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome				owl:Class
MONDO:0000828	biolink:NamedThing	juvenile-onset Parkinson disease		mondoexuq1wtf	juvenile-onset Parkinson's disease											DOID:0060893																		owl:Class
MONDO:0006946	biolink:NamedThing	renal osteodystrophy	Abnormalities of bone mineral metabolism associated with chronic kidney disease.	mondoexuq1wtf	Osteodystrophies, renal|renal Osteodystrophies|osteodystrophy, renal|rickets, renal|renal rickets											COHD:197921|DOID:13068|UMLS:C0035086|GARD:0007551|MESH:D012080|ICD9:588.0|EFO:1001152|SCTID:16726004|ICD10:N25.0|MedDRA:10038489																		owl:Class
MONDO:0012254	biolink:NamedThing	multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	mondoexuq1wtf	epiphyseal dysplasia, multiple, with miniepiphyses											Orphanet:166032|ICD10:Q77.3|MESH:C563735|OMIM:609325|UMLS:C1836307																		owl:Class
MONDO:0012094	biolink:NamedThing	prostate cancer, hereditary, 4		mondoexuq1wtf	prostate cancer, hereditary, 4|prostate cancer, hereditary, on chromosome 7|prostate cancer, hereditary, type 4|HPC4											MESH:C563882|UMLS:C1837593|OMIM:608658																		owl:Class
MONDO:0003054	biolink:NamedThing	benign meningioma	A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.	mondoexuq1wtf	benign meningioma (WHO grade I)|meningioma (disease), benign|meningioma, benign											SCTID:724171006|NCIT:C4055|DOID:4587|UMLS:C0281784																		owl:Class
MONDO:0014898	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.	mondoexuq1wtf	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|TK2 autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal recessive 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2											OMIM:617069|DOID:0111523|UMLS:C4310734																		owl:Class
MONDO:0015268	biolink:NamedThing	medullary sponge kidney	Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.	mondoexuq1wtf	cystic dilatation of renal collecting tubes|Cacchi Ricci disease|sponge kidney|MSK|Cacchi-Ricci disease|Cacchi-Ricci syndrome|Precalyceal canalicular ectasia|Precalicial canalicular ectasia											ICD10:Q61.5|ICD9:753.17|MESH:D007691|COHD:195072|UMLS:C0022681|SCTID:236443009|NCIT:C34751|MedDRA:10027104|Orphanet:1309|GARD:0000232														https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney				owl:Class
MONDO:0060507	biolink:NamedThing	retinal dystrophy with or without macular staphyloma		mondoexuq1wtf	retinal dystrophy with or without macular staphyloma|RDMS											OMIM:617547|UMLS:C4479651																		owl:Class
MONDO:0007961	biolink:NamedThing	megalencephaly, autosomal dominant		mondoexuq1wtf	megalencephaly, autosomal dominant											UMLS:C3805727|OMIM:155350																		owl:Class
MONDO:0001207	biolink:NamedThing	neonatal respiratory failure		mondoexuq1wtf	respiratory failure of newborn											UMLS:C0521648|DOID:11161|SCTID:95619009|ICD10:P28.5|COHD:4317960|ICD9:770.84																		owl:Class
MONDO:0042496	biolink:NamedThing	ergotism	Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.	mondoexuq1wtf	ergot poisonings|St Anthony's fire|ergot poisoning|ergotism|fire, St. Anthonys|poisonings, ergot|St. Anthony's fire|Saint Anthonys fire|ergotisms|Saint Anthony fire|St. Anthony fire|poisoning, ergot|St. Anthonys fire|Saint Anthony's fire											ICD9:988.2|SCTID:51510002|MESH:D004881|GARD:0000196																		owl:Class
MONDO:0042497	biolink:NamedThing	mycotoxicosis	Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).	mondoexuq1wtf	Fungi poisoning|Fungi caused poisoning|Mycotoxicoses|fungus poisoning|fungus Poisonings|poisoning, fungus|Poisonings, fungus											SCTID:26033009|MESH:D015651																		owl:Class
MONDO:0012250	biolink:NamedThing	Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy	mondoexuq1wtf	FGD4 Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|CMT4H|Charcot-Marie-Tooth disease, type 4H|autosomal recessive Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|Charcot-Marie-Tooth neuropathy type 4H|Charcot-Marie-Tooth neuropathy, type 4H											UMLS:C1836336|SCTID:715802008|GARD:0012442|OMIM:609311|MESH:C563740|DOID:0110192|Orphanet:99954|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h				owl:Class
MONDO:0035369	biolink:NamedThing	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome		mondoexuq1wtf												Orphanet:597874														https://github.com/monarch-initiative/mondo/issues/3542				owl:Class
MONDO:0004891	biolink:NamedThing	hyperopia	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)	mondoexuq1wtf	hypermetropia|Far-sightedness											DOID:9834|COHD:376415|ICD10:H52.0|SCTID:38101003|MESH:D006956|UMLS:C0020490|ICD9:367.0																		owl:Class
MONDO:0015347	biolink:NamedThing	multicentric reticulohistiocytosis	Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.	mondoexuq1wtf	giant cell histiocytomatosis|multicentric reticulohistiocytosis|lipoid dermatoarthritis											SCTID:84241008|ICD10:E78.81|GARD:0007103|Orphanet:139436|ICD9:713.0|ICD9:272.8|UMLS:C0311284|NCIT:C27896|MedDRA:10070595|ICD10:D76.3|DOID:11824														https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis				owl:Class
MONDO:0025431	biolink:NamedThing	keratoconjunctivitis, infectious	Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.	mondoexuq1wtf	infectious keratoconjunctivitis|Keratoconjunctivitides, infectious|infectious Keratoconjunctivitides											MESH:D007639|UMLS:C0022576																		owl:Class
MONDO:0018810	biolink:NamedThing	lethal hydranencephaly-diaphragmatic hernia syndrome	Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.	mondoexuq1wtf												Orphanet:480528|UMLS:CN776878																		owl:Class
MONDO:0009184	biolink:NamedThing	epidermolysis bullosa with diaphragmatic hernia		mondoexuq1wtf	epidermolysis bullosa with diaphragmatic hernia											MESH:C565588|OMIM:226735																		owl:Class
MONDO:0016473	biolink:NamedThing	familial rhabdoid tumor	A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.	mondoexuq1wtf	familial posterior fossa brain tumor syndrome of infancy|rhabdoid predisposition syndrome|RTPS|rhabdoid tumor predisposition syndrome|hereditary rhabdoid tumor											OMIMPS:609322|UMLS:C2985524|NCIT:C93268|ICD10:C49.9|Orphanet:231108|UMLS:CN201468																		owl:Class
MONDO:0002266	biolink:NamedThing	malt worker's lung	An extrinsic allergic alveolitis caused by infection with Aspergillus.	mondoexuq1wtf	Malt-workers' lung|Malt workers' lung|Aspergillus caused extrinsic allergic alveolitis|Aspergillus extrinsic allergic alveolitis|alveolitis due to aspergillus clavatus|malt worker lung											SCTID:25897000|DOID:2314|ICD9:495.4|ICD10:J67.4|UMLS:C0155888																		owl:Class
MONDO:0000527	biolink:NamedThing	colon adenoma	An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	mondoexuq1wtf	adenoma of colon|colonic adenoma|adenoma of the colon|colon adenoma											NCIT:C3864|DOID:0050912|UMLS:C0850572																		owl:Class
MONDO:0012169	biolink:NamedThing	premature ovarian failure 3		mondoexuq1wtf	premature ovarian failure type 3|premature ovarian failure 3|Pof3											UMLS:C1837008|MESH:C563816|OMIM:608996																		owl:Class
MONDO:0011523	biolink:NamedThing	Bardet-Biedl syndrome 6		mondoexuq1wtf	BBS6|Bardet-Biedl syndrome type 6|Bardet-Biedl syndrome 6											OMIM:605231|GARD:0010205|MESH:C565738|DOID:0110128|ICD10:Q87.89|UMLS:C1858054														https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6				owl:Class
MONDO:0010477	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, MKB type	The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.	mondoexuq1wtf	Ohdo syndrome, X-linked|BMRS, Maat-Kievit-Brunner type|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|X-linked Ohdo syndrome|OHDOX|BMRS, MKB type											UMLS:C3698541|OMIM:300895|ICD9:759.89|Orphanet:293707|SCTID:699297004																		owl:Class
MONDO:0020533	biolink:NamedThing	streptobacillary rat-bite fever	Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.	mondoexuq1wtf	Streptobacillosis|Haverhill fever|streptobacillary rat-bite fever|Streptobacillary fever											SCTID:52138004|Orphanet:99905|ICD9:026.1|UMLS:C0152063|UMLS:CN207435|DOID:13238|ICD10:A25.1																		owl:Class
MONDO:0001667	biolink:NamedThing	streptobacillus infectious disease		mondoexuq1wtf	streptobacillus infection|infection caused by streptobacillus											UMLS:C0947939|SCTID:721738002																		owl:Class
MONDO:0700060	biolink:NamedThing	leukemia, acute, X-linked	X-linked form of acute leukemia	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153				OMIM:308960																		owl:Class
MONDO:0010643	biolink:NamedThing	acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	mondoexuq1wtf	acute leukemia (disease)|stem cell leukaemia|leukemia, acute, X-linked|stem cell leukemia (disease)|acute leukemia|stem cell leukemia											ICD10:C95.0|COHD:138708|ICDO:9801/3|ICD9:208.0|ICD10:C95.00|HP:0002488|NCIT:C9300|MESH:C564112|EFO:1000068|DOID:12603|ICD9:208.00|SCTID:91855006																		owl:Class
MONDO:0014034	biolink:NamedThing	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 18|intellectual disability, autosomal dominant type 18|GATAD2B-associated neurodevelopmental disorder|autosomal dominant mental retardation 18|MRD18|mental retardation, autosomal dominant type 18|autosomal dominant intellectual disability 18|intellectual disability, autosomal dominant 18|mental retardation, autosomal dominant 18											OMIM:615074|Orphanet:363686|GARD:0012815|ICD10:Q87.8|DOID:0070048|UMLS:C3554448																		owl:Class
MONDO:0013412	biolink:NamedThing	hypertrophic cardiomyopathy 9	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	mondoexuq1wtf	TTN hypertrophic cardiomyopathy|CMH9|cardiomyopathy, familial hypertrophic, type 9|cardiomyopathy, familial hypertrophic, 9|hypertrophic cardiomyopathy caused by mutation in TTN|hypertrophic cardiomyopathy type 9											UMLS:C1861065|OMIM:613765|DOID:0110315|MESH:C566044																		owl:Class
MONDO:0003467	biolink:NamedThing	mediastinum synovial sarcoma	A synovial sarcoma arising from the mediastinum.	mondoexuq1wtf	synovial sarcoma of the mediastinum|synovial sarcoma of mediastinum|mediastinal synovial sarcoma|mediastinum synovial sarcoma (disease)											NCIT:C6618|UMLS:C1334681|DOID:5488																		owl:Class
MONDO:0014535	biolink:NamedThing	hyperproinsulinemia		mondoexuq1wtf	hyperproinsulinemia											OMIM:616214|UMLS:C0342283|ICD9:250.80|MESH:C562776|SCTID:237613005																		owl:Class
MONDO:0007188	biolink:NamedThing	primary basilar invagination	Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.	mondoexuq1wtf	basilar impression, primary|primary basilar impression|Bull-Nixon syndrome											UMLS:C1862299|Orphanet:2285|OMIM:109500|MESH:C566226|GARD:0001037|ICD10:Q75.8																		owl:Class
MONDO:0018752	biolink:NamedThing	exercise-induced malignant hyperthermia		mondoexuq1wtf	Exertional heat stroke											Orphanet:466650|SCTID:735907005|ICD10:T88.3																		owl:Class
MONDO:0009345	biolink:NamedThing	histidinemia	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.	mondoexuq1wtf	histidinemia|HIS deficiency|Histidinuria|histidine ammonia-lyase deficiency|histidinuria|Hal deficiency|hyperhistidinemia|histidase deficiency											SCTID:410058007|UMLS:C0220992|Orphanet:2157|ICD10:E70.8|OMIM:235800|ICD10:E70.41|DOID:0060168|GARD:0006661|MESH:C538320														https://rarediseases.info.nih.gov/diseases/6661/histidinemia				owl:Class
MONDO:0018572	biolink:NamedThing	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome		mondoexuq1wtf												UMLS:CN237585|ICD10:Q87.8|Orphanet:436141																		owl:Class
MONDO:0013659	biolink:NamedThing	microcephaly-capillary malformation syndrome		mondoexuq1wtf	MICCAP|microcephaly-capillary malformation syndrome|MIC-CAP syndrome|microcephaly-cutaneous capillary malformation syndrome|MIC-CM syndrome											ICD9:759.89|SCTID:703369003|UMLS:C3280296|OMIM:614261|ICD10:Q87.8|Orphanet:294016																		owl:Class
MONDO:0009453	biolink:NamedThing	immune deficiency disease		mondoexuq1wtf	immune deficiency disease											OMIM:242850|UMLS:C1855771|MESH:C565469																		owl:Class
MONDO:0008176	biolink:NamedThing	Paget disease of bone 3		mondoexuq1wtf	familial Paget disease of bone|Paget disease of bone 3|Paget disease of bone, familial|PDB3|Paget disease of bone type 3											GARD:0004191|OMIM:167250|UMLS:C4085252																		owl:Class
MONDO:0020210	biolink:NamedThing	syndromic hyperopia	A hyperopia that is part of a larger syndrome.	mondoexuq1wtf	syndromic hyperopia|syndrome associated with hyperopia											UMLS:CN227820|Orphanet:98622																		owl:Class
MONDO:0012572	biolink:NamedThing	Sakoda complex		mondoexuq1wtf	Sakoda spectrum|sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate|Sakoda complex											MESH:C567055|OMIM:610871|UMLS:C1970485|GARD:0009695														https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex				owl:Class
MONDO:0016845	biolink:NamedThing	21q22.11q22.12 microdeletion syndrome		mondoexuq1wtf	monosomy 21q22.11q22.12|21q22.11-q22.12 microdeletion syndrome|monosomy 21q22.11-q22.12|Del(21)(q22.11q22.12)											Orphanet:261323|ICD10:Q93.5|UMLS:CN202185																		owl:Class
MONDO:0700066	biolink:NamedThing	myopathy caused by varation in FKRP	Any myopathy in which the cause of the disease is a varation in the FKRP gene.	mondoexuq1wtf	FKRP-related myopathy|FKRP myopathy|myopathy caused by mutation in FKRP							http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0014219	biolink:NamedThing	alacrima, achalasia, and intellectual disability syndrome		mondoexuq1wtf	alacrima, achalasia, and mental retardation syndrome|alacrima, achalasia, and intellectual disability syndrome|GMPPA-CDG|AAMR											GARD:0012404|UMLS:C3809738|OMIM:615510																		owl:Class
MONDO:0020194	biolink:NamedThing	congenital alacrima		mondoexuq1wtf												Orphanet:98604																		owl:Class
MONDO:0013897	biolink:NamedThing	Loeys-Dietz syndrome 4	Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.	mondoexuq1wtf	LDS4|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome caused by mutation in TGFB2|Loeys-Dietz syndrome 4|Loeys-Dietz syndrome type 4|TGFB2 Loeys-Dietz syndrome											UMLS:C3553762|GARD:0010588|DOID:0070233|OMIM:614816																		owl:Class
MONDO:0018954	biolink:NamedThing	Loeys-Dietz syndrome	Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.	mondoexuq1wtf	aortic aneurysm syndrome, Loeys-Dietz type|aortic aneurysm syndrome due to TGF-beta receptors anomalies											MESH:D055947|NCIT:C75006|ICD9:759.89|Orphanet:60030|UMLS:C2697932|DOID:0050466|ICD10:Q87.4|OMIMPS:609192|SCTID:446263001|GARD:0010788																		owl:Class
MONDO:0001106	biolink:NamedThing	kidney failure	An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.	mondoexuq1wtf	failure, renal|renal failure syndrome|renal insufficiency|renal failure											ICD9:404.12|ICD9:586|UMLS:C1565489|ICD10:N19|SCTID:42399005|UMLS:C0035078|NCIT:C4376|MESH:D051437|DOID:1074|ICD9:404.13																		owl:Class
MONDO:0014520	biolink:NamedThing	46,XX ovarian dysgenesis-short stature syndrome		mondoexuq1wtf	ovarian dysgenesis type 4|ovarian dysgenesis 4|ODG4											Orphanet:444048|UMLS:C4015409|OMIM:616185|ICD10:Q96.8|DOID:0080496																		owl:Class
MONDO:0100092	biolink:NamedThing	myoclonus, familial, 2	Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.	mondoexuq1wtf	MYOCL2							http://orcid.org/0000-0001-5208-3432				OMIM:618364																		owl:Class
MONDO:0013981	biolink:NamedThing	myoclonus, familial	A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	mondoexuq1wtf	FCM|myoclonus, familial cortical|familial myoclonus|familial cortical myoclonus											ICD10:G25.3|OMIMPS:614937|Orphanet:319189|SCTID:763770005|UMLS:C3539916																		owl:Class
MONDO:0006418	biolink:NamedThing	small intestinal enteropathy-associated T-cell lymphoma	An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.	mondoexuq1wtf	small intestinal enteropathy-type T-cell lymphoma|small intestine enteropathy-associated T-cell lymphoma|enteropathy-associated T-cell lymphoma of small intestine|small intestinal EATL											UMLS:C1519371|NCIT:C39610|EFO:1000535																		owl:Class
MONDO:0008149	biolink:NamedThing	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	An osteogenesis imperfecta found in a single South African family.	mondoexuq1wtf	osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures											ICD10:Q78.0|OMIM:166230|DOID:0110335|MESH:C563487|UMLS:C1833748																		owl:Class
MONDO:0008146	biolink:NamedThing	osteogenesis imperfecta type 1	Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.	mondoexuq1wtf	OI type 1|mild osteogenesis imperfecta|Van der Hoeve syndrome|osteogenesis imperfecta, type I|non-deforming osteogenesis imperfecta|Adair-Dighton syndrome|osteogenesis imperfecta type I|osteogenesis imperfecta with blue sclerae|osteogenesis imperfecta, type 1|OI, type 1|OI1|classic non-deforming OI with blue sclerae|osteogenesis imperfecta tarda					Editor note: we follow ordo and place van der hoeve as exact synonym						Orphanet:216796|UMLS:CN536249|UMLS:CN201103|NCIT:C99003|SCTID:385482004|DOID:0110334|OMIM:166200|GARD:0008694|ICD10:Q78.0																		owl:Class
MONDO:0004627	biolink:NamedThing	duodenitis	Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.	mondoexuq1wtf	hemorrhagic duodenitis|duodenitis|duodenum inflammation|inflammation of duodenum											SCTID:72007001|DOID:8643|ICD9:535.60|NCIT:C94409|ICD9:535.6|MESH:D004382|COHD:433516|ICD10:K29.8|UMLS:C0013298																		owl:Class
MONDO:0023628	biolink:NamedThing	levator syndrome	Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.	mondoexuq1wtf	levator ani syndrome|paroxysmal proctalgia|levator syndrome|painful spasm of anus|anorectal spasm|levator ani spasm syndrome|psychogenic anal spasm|proctalgia fugax											MESH:C535890|SCTID:62647006|NCIT:C113615|GARD:0006899														https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome				owl:Class
MONDO:0002865	biolink:NamedThing	anus sarcoma	A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.	mondoexuq1wtf	sarcoma of the anus|anus sarcoma|sarcoma of anus|anal sarcoma											NCIT:C5611|UMLS:C1332277|DOID:4067																		owl:Class
MONDO:0001879	biolink:NamedThing	anus cancer	A malignant neoplasm involving the anus	mondoexuq1wtf	malignant tumor of the anus|malignant anus neoplasm|malignant tumor of anus|malignant neoplasm of anus|malignant neoplasm of the anus|malignant anal neoplasm|malignant anal tumor|anus cancer|cancer of anus											ICD10:C21.1|ICD9:154.2|NCIT:C7379|GARD:0009300|DOID:14110|ICD10:C21.0|ICD9:154.3																		owl:Class
MONDO:0001127	biolink:NamedThing	tibialis tendinitis	A tendinitis that involves the tibialis.	mondoexuq1wtf	tibialis tendinitis|tendinitis of tibialis											UMLS:C0158321|COHD:77081|ICD9:726.72|DOID:10810|SCTID:50127006																		owl:Class
MONDO:0011928	biolink:NamedThing	caudal duplication	Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.	mondoexuq1wtf	dipygus|caudal DUPLICATION anomaly|split notochord syndrome											OMIM:607864|GARD:0001164|Orphanet:1756|UMLS:C1842884|SCTID:71464000|MESH:C564315|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication				owl:Class
MONDO:0001714	biolink:NamedThing	bejel	A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.	mondoexuq1wtf	Treponema pallidum subsp. endemicum infectious disease|endemic syphilis|Njovera|nonvenereal syphilis|Treponema pallidum subsp. endemicum caused disease or disorder|Frenga|nonvenereal endemic syphilis|Dichuchwa|Treponema pallidum subsp. endemicum disease or disorder											DOID:13431|UMLS:C0004945|GARD:0005905														https://rarediseases.info.nih.gov/diseases/5905/bejel				owl:Class
MONDO:0009207	biolink:NamedThing	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor		mondoexuq1wtf	factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor|factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor											OMIM:227310|UMLS:C1856882																		owl:Class
MONDO:0018550	biolink:NamedThing	spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder		mondoexuq1wtf	SPOAN and SPOAN-related disorder											UMLS:CN237550|Orphanet:431320																		owl:Class
MONDO:0015358	biolink:NamedThing	hereditary motor and sensory neuropathy	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	mondoexuq1wtf	HMSN											SCTID:398100001|Orphanet:140450|MESH:D015417|COHD:4134552|GARD:0012685|ICD10:G60.0																		owl:Class
MONDO:0010702	biolink:NamedThing	orofaciodigital syndrome I	Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	mondoexuq1wtf	Papillon-Leage-Psaume syndrome|oral facial digital syndrome type 1|oral-facial-digital syndrome, type 1|OFD1|orofaciodigital syndrome I|oral-facial-digital syndrome 1|Papillon-Léage-Psaume syndrome|oral-facial-digital syndrome type 1|oral facial digital syndrome 1|OFDI|orofaciodigital syndrome type I|Papillon-league-Psaume syndrome (formerly)|orofaciodigital syndrome type 1|OFD syndrome 1|OFDSI|Papillon-Leage and Psaume syndrome|OFDS 1|orofaciodigital syndrome 1											NCIT:C75481|DOID:0060316|UMLS:C2698658|MESH:C537134|Orphanet:2750|UMLS:C1510460|SCTID:763833006|ICD10:Q87.0|GARD:0004121|OMIM:311200																		owl:Class
MONDO:0002775	biolink:NamedThing	anovulation	The absence of ovulation.	mondoexuq1wtf												DOID:3781|UMLS:C0003128|MESH:D000858																		owl:Class
MONDO:0060768	biolink:NamedThing	gingival fibroepithelial polyp	A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.	mondoexuq1wtf	fibroepithelial polyp of the gum|gingival fibroepithelial polyp|fibroepithelial polyp of gingiva|fibroepithelial polyp of gum|fibroepithelial polyp of the gingiva|gum fibroepithelial polyp											NCIT:C4693|SCTID:235001002|UMLS:C0399441																		owl:Class
MONDO:0003396	biolink:NamedThing	epulis	A non-neoplastic nodular lesion that arises from the gingiva.	mondoexuq1wtf	polyp of the gum|gum polyp|polyp of gingiva|gingival polyp|epulides|polyp of the gingiva|polyp of gum|gingiva polyp											NCIT:C3948|DOID:5337|ICD9:523.8|UMLS:C0266919|SCTID:45676007																		owl:Class
MONDO:0009549	biolink:NamedThing	severe early-childhood-onset retinal dystrophy	Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.	mondoexuq1wtf	STGD1|early-onset severe retinal dystrophy|macular dystrophy with flecks, type 1|retinal dystrophy, early-onset severe|macular Degeneration, juvenile|Stargardt disease 1|SECORD|EOSRD|Stgd|fundus flavimaculatus|Stargardt disease type 1											SCTID:716663009|Orphanet:364055|ICD10:H35.5|OMIM:248200																		owl:Class
MONDO:0007720	biolink:NamedThing	hernia, double inguinal		mondoexuq1wtf	hernia, double inguinal											MESH:C563164|UMLS:C0860251|OMIM:142350																		owl:Class
MONDO:0043895	biolink:NamedThing	ankle injury	Harm or hurt to the ankle or ankle joint usually inflicted by an external source.	mondoexuq1wtf	injury of ankle|tarsal region injury|syndesmotic Injuries|ankle injury|syndesmotic injury|injury, syndesmotic|injury of tarsal region|sprain, ankle|injury, ankle|Injuries, ankle|ankle Sprains|Sprains, ankle|ankle sprain|Injuries, syndesmotic											EFO:1001832|MESH:D016512|SCTID:125603006																		owl:Class
MONDO:0019762	biolink:NamedThing	laryngotracheoesophageal cleft type 2	Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.	mondoexuq1wtf	laryngo-tracheo-esophageal cleft type 2|LTEC2|LTEC II											Orphanet:93939|UMLS:CN206697|ICD10:Q32.1																		owl:Class
MONDO:0004612	biolink:NamedThing	malignant histiocytosis	Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.	mondoexuq1wtf	malignant midline reticulosis|histiocytic disorder, malignant|malignant reticulosis|histiocytic medullary reticulosis|malignant histiocytic disorders|malignant histiocytic disease|disorders, malignant histiocytic|Stewart's granuloma											SCTID:118612006|UMLS:C0019623|DOID:2570|NCIT:C7202|EFO:1001499|COHD:4041104|DOID:8580|ICD9:202.3|ICD10:C96.1|ICD10:C96.A|MESH:D015620|ICDO:9750/3																		owl:Class
MONDO:0006927	biolink:NamedThing	Rickettsiaceae infectious disease	Infections with bacteria of the family rickettsiaceae.	mondoexuq1wtf	Rickettsiaceae infection|rickettsialpox|Rickettsiaceae caused disease or disorder|Rickettsiaceae disease or disorder|infection, Rickettsiaceae|infections, Rickettsiaceae											EFO:1001128|MESH:D012288																		owl:Class
MONDO:0006956	biolink:NamedThing	Rickettsiosis	A group of infectious diseases that is caused by Rickettsia.	mondoexuq1wtf	Rickettsia infection|Rickettsia infectious disease|Rickettsia caused disease or disorder|infection, Rickettsia|Rickettsiosis|infections, Rickettsia|Rickettsia disease or disorder|Rickettsial infectious disease|Rickettsial disease|Rickettsial infectious disorder|Rickettsiae disease					We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus						MESH:D012282|ICD9:083.9|MedDRA:10061495|NCIT:C34991|EFO:1001162|SCTID:37246009|Orphanet:102021|UMLS:C0035585																		owl:Class
MONDO:0024432	biolink:NamedThing	nerve plexus disease	A disease that involves the nerve plexus.	mondoexuq1wtf	nerve plexus disorder|disease or disorder of nerve plexus|disorder of nerve plexus|nerve plexus disease or disorder|nerve plexus disease|disease of nerve plexus|plexopathy										MONDO:0002733	SCTID:2231001|DOID:3688|UMLS:C1335437|NCIT:C27744																		owl:Class
MONDO:0006848	biolink:NamedThing	marasmus	The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.	mondoexuq1wtf	nutritional atrophy|nutritional marasmus											SCTID:29740003|MedDRA:10026820|COHD:440370|UMLS:C0086588|ICD10:E41|ICD9:261|EFO:1001033|DOID:12328																		owl:Class
MONDO:0001371	biolink:NamedThing	protein-energy malnutrition	A nutritional deficit that is caused by inadequate protein or calorie intake.	mondoexuq1wtf	Protein energy malnutrition											DOID:11801|ICD9:263.9|ICD10:E46|ICD9:269.8|MESH:D011502|ICD9:263.8|NCIT:C34952|SCTID:238107002																		owl:Class
MONDO:0018534	biolink:NamedThing	squamous cell carcinoma of liver and intrahepatic biliary tract	Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.	mondoexuq1wtf	squamous cell carcinoma of liver and IBT											ICD10:C22.0|UMLS:CN242131|ICD10:C22.1|Orphanet:424975																		owl:Class
MONDO:0011294	biolink:NamedThing	schizophrenia 5	A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.	mondoexuq1wtf	SCZD5|schizophrenia 5 with or without an affective disorder|schizophrenia 5|schizophrenia susceptibility locus, chromosome 6Q-related											UMLS:C1864153|DOID:0070081|OMIM:603175																		owl:Class
MONDO:0018758	biolink:NamedThing	familial patent arterial duct	Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.	mondoexuq1wtf												Orphanet:466729|UMLS:CN242171																		owl:Class
MONDO:0008748	biolink:NamedThing	Hermansky-Pudlak syndrome 1	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.	mondoexuq1wtf	albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|HPS1|HPS1 Hermansky-Pudlak syndrome|Delta storage pool disease|Hermansky-Pudlak syndrome type 1|Hermansky-Pudlak syndrome caused by mutation in HPS1|Hermansky-Pudlak syndrome 1											MESH:C538539|NCIT:C150367|DOID:0060539|UMLS:C2931875|OMIM:203300																		owl:Class
MONDO:0005635	biolink:NamedThing	adenomyoma	A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.	mondoexuq1wtf	adenomyoma (morphologic abnormality)|adenomyoma, benign|adenomyoma											MESH:D018194|NCIT:C3726|UMLS:C0206622|DOID:2609|ICDO:8932/0|EFO:0007133																		owl:Class
MONDO:0011020	biolink:NamedThing	osteoporosis-oculocutaneous hypopigmentation syndrome	Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.	mondoexuq1wtf	Hernández-Fragoso syndrome|osteoporosis oculocutaneous hypopigmentation syndrome|OOCH syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome|OOCH|OOCHS											UMLS:C1832592|SCTID:722113001|MESH:C536062|Orphanet:2786|GARD:0000404|OMIM:601220														https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome				owl:Class
MONDO:0022330	biolink:NamedThing	4-hydroxyphenylacetic aciduria		mondoexuq1wtf												MESH:C535315|GARD:0008155														https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria				owl:Class
MONDO:0007536	biolink:NamedThing	congenital lobar emphysema	Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.	mondoexuq1wtf	infantile lobar hyperinflation|congenital lobar hyperinflation|CLE|emphysema, congenital lobar											Orphanet:1928|OMIM:130710|GARD:0002104|MESH:C535735|SCTID:66987001|ICD10:Q33.8|NCIT:C98895|UMLS:C0265797|MedDRA:10010456																		owl:Class
MONDO:0020023	biolink:NamedThing	respiratory or mediastinal malformation		mondoexuq1wtf												Orphanet:98045																		owl:Class
MONDO:0001698	biolink:NamedThing	tinea profunda	A dermatophytosis that involves the deep dermal layers.	mondoexuq1wtf	granuloma trichophyticum|deep seated dermatophytosis|Majocchi's granuloma											COHD:140654|SCTID:214600002|DOID:13368|UMLS:C1279621																		owl:Class
MONDO:0019761	biolink:NamedThing	laryngotracheoesophageal cleft type 1	Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.	mondoexuq1wtf	LTEC1|laryngo-tracheo-esophageal cleft type 1|LTEC I											Orphanet:93938|UMLS:CN206696|ICD10:Q32.1																		owl:Class
MONDO:0006864	biolink:NamedThing	necrotizing sialometaplasia	A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.	mondoexuq1wtf												SCTID:109769000|ICD10:K11.8|DOID:12901|MESH:D012797|UMLS:C0037033|EFO:1001057|MedDRA:10072176|ICD9:527.8																		owl:Class
MONDO:0019872	biolink:NamedThing	distal trisomy 3p	Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	mondoexuq1wtf	telomeric duplication 3p|distal duplication 3p|distal trisomy type 3p|trisomy 3pter											Orphanet:96071|ICD10:Q92.3|SCTID:764519007																		owl:Class
MONDO:0013810	biolink:NamedThing	COG6-CGD		mondoexuq1wtf	CDG-IIL|CDG IIL|congenital disorder of glycosylation, type IIL|CDG2L|CDG syndrome type IIL|congenital disorder of glycosylation type IIL|congenital disorder of glycosylation type 2l|CDGIIl|COG6-CDG (CDG-IIL)											ICD10:E77.8|Orphanet:464443|UMLS:C3553230|DOID:0070264|GARD:0010944|OMIM:614576																		owl:Class
MONDO:0009243	biolink:NamedThing	Fraser-like syndrome		mondoexuq1wtf	Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies|Fraser-like syndrome											Orphanet:2051|OMIM:229230|UMLS:C1856708|UMLS:CN200837|MESH:C565562																		owl:Class
MONDO:0016907	biolink:NamedThing	partial deletion of the long arm of chromosome 8	Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome 8q deletion|8q monosomy|partial monosomy 8q|8q deletion|deletion 8q|partial deletion of the long arm of chromosome type 8|partial monosomy of chromosome 8q|partial deletion of chromosome 8q|monosomy 8q|partial monosomy of the long arm of chromosome 8											MESH:C537828|UMLS:C0795828|ICD10:Q93.5|GARD:0003770|Orphanet:262065																		owl:Class
MONDO:0010785	biolink:NamedThing	maternally-inherited diabetes and deafness	Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.	mondoexuq1wtf	Niddm with deafness|diabetes mellitus, type II, with deafness|noninsulin-dependent diabetes mellitus with deafness|diabetes and deafness, maternally inherited|Ballinger-Wallace syndrome|MIDD|diabetes-deafness syndrome, maternally Transmitted|maternally inherited diabetes and deafness|Ballinger Wallace syndrome|diabetes mellitus type II with deafness|mitochondrial diabetes											MESH:C536246|NCIT:C131859|UMLS:C4330695|GARD:0004003|Orphanet:225|SCTID:237619009|UMLS:C0342289|ICD9:250.80|ICD10:E13.8|OMIM:520000														https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness				owl:Class
MONDO:0001773	biolink:NamedThing	post-vaccinal encephalitis	An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)	mondoexuq1wtf	encephalitis following immunization procedures|postvaccinal encephalomyelitis											ICD9:323.51|UMLS:C0751101|SCTID:31367003|DOID:13664|ICD10:G04.02																		owl:Class
MONDO:0019999	biolink:NamedThing	intestinal malformation		mondoexuq1wtf												Orphanet:97945																		owl:Class
MONDO:0003174	biolink:NamedThing	spinal cord astrocytoma	A low or high grade astrocytoma that arises in the spinal cord.	mondoexuq1wtf	astrocytoma of spinal cord|spinal astrocytoma|spinal cord astrocytoma (excluding glioblastoma)|astrocytoma (excluding glioblastoma) of spinal cord|astrocytoma of the spinal cord|spinal cord astrocytoma											NCIT:C4641|DOID:4863|UMLS:C0349540|SCTID:254948003|EFO:1000544																		owl:Class
MONDO:0003665	biolink:NamedThing	cervical endometrioid adenocarcinoma	A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.	mondoexuq1wtf	endometrioid carcinoma of the cervix uteri|cervix uteri endometrioid adenocarcinoma|endometrioid carcinoma of cervix|endometrioid adenocarcinoma of cervix uteri|uterine cervix endometrioid adenocarcinoma|endometrioid carcinoma of uterine cervix|endometrioid adenocarcinoma of the cervix uteri|endometrioid carcinoma of the uterine cervix|endometrioid adenocarcinoma of the uterine cervix|endometrioid adenocarcinoma of the cervix|cervix uteri endometrioid carcinoma|uterine cervix endometrioid carcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid carcinoma of the cervix|cervical endometrioid carcinoma|cervix endometrioid adenocarcinoma|cervix endometrioid carcinoma|cervical endometrioid adenocarcinoma|endometrioid carcinoma of cervix uteri|endometrioid adenocarcinoma of cervix											UMLS:C1332913|ONCOTREE:CEEN|DOID:5830|EFO:1000164|NCIT:C6343																		owl:Class
MONDO:0004310	biolink:NamedThing	adult embryonal tumor with multilayered rosettes, c19mc-altered	An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.	mondoexuq1wtf	adult ependymoblastoma|adult embryonal tumor with Multilayered Rosettes, C19MC-altered|embryonal tumor with Multilayered Rosettes, C19MC-altered|ependymoblastoma of adults											UMLS:C0281330|NCIT:C8290|DOID:7631																		owl:Class
MONDO:0014581	biolink:NamedThing	congenital myasthenic syndrome 2A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	mondoexuq1wtf	CMS IIa|SCCMS|CMS2A|slow channel congenital myasthenic syndrome|congenital myasthenic syndrome type 2A|congenital myasthenic syndrome 2A slow-channel|myasthenic syndrome, congenital, type IIa|myasthenic syndrome, congenital, 2A, slow-channel|myasthenic syndrome, congenital, slow-channel|myasthenic syndrome, congenital, postsynaptic slow-channel											DOID:0110681|UMLS:C4225374|OMIM:616313|GARD:0009895																		owl:Class
MONDO:0014510	biolink:NamedThing	fatty acyl-CoA reductase 1 deficiency		mondoexuq1wtf	fatty acyl-CoA reductase 1 disorder|severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|fatty acyl-CoA reductase 1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|rhizomelic chondrodysplasia punctata type 4|peroxisomal fatty acyl-CoA reductase 1 disorder|FAR1 deficiency|fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|PFCRD											Orphanet:438178|OMIM:616154|UMLS:C4015344|ICD10:E71.3														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0010331	biolink:NamedThing	coronary heart disease, susceptibility to, 3		mondoexuq1wtf	coronary heart disease, susceptibility to, 3|coronary heart disease, susceptibility to, type 3|Chds3											OMIM:300464																		owl:Class
MONDO:0007337	biolink:NamedThing	cleft palate-lateral synechia syndrome	Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.	mondoexuq1wtf	cleft palate lateral synechia syndrome|CPLS syndrome|cleft palate-lateral synechia syndrome|syngnathia|Cpls syndrome											Orphanet:2016|SCTID:403772000|ICD10:Q87.8|MESH:C563047|ICD9:759.89|UMLS:C0795898|OMIM:119550|GARD:0001391|DOID:0080313														https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome				owl:Class
MONDO:0008771	biolink:NamedThing	amelogenesis imperfecta type 1G	Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.	mondoexuq1wtf	amelogenesis imperfecta and nephrocalcinosis|enamel-renal-gingival syndrome|amelogenesis imperfecta-nephrocalcinosis syndrome|amelogenesis imperfecta nephrocalcinosis|amelogenesis imperfecta caused by mutation in FAM20A|generalized enamel hypoplasia and renal dysfunction|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta hypoplastic type, Ig|amelogenesis imperfecta hypoplastic with nephrocalcinosis|amelogenesis imperfecta and gingival fibromatosis syndrome|enamel renal syndrome|amelogenesis imperfecta, type Ig|AIGFS|absent enamel, nephrocalcinosis and apparently normal calcium metabolism|enamel-renal syndrome|ers|amelogenesis imperfecta, type 1G|FAM20A amelogenesis imperfecta|amelogenesis imperfecta type Ig|AI1G											ICD10:K00.5|GARD:0009860|Orphanet:1031|GARD:0000646|OMIM:204690|ICD9:520.5|MESH:C538241|DOID:0110066|SCTID:109477002																		owl:Class
MONDO:0016705	biolink:NamedThing	angiocentric glioma	Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.	mondoexuq1wtf	angiocentric neuroepithelial tumor|angiocentric glioma (WHO grade I)|ANGL|Monomorphus angiocentric glioma											ONCOTREE:ANGL|ICDO:9431/1|ICD10:C71.9|UMLS:C2363903|Orphanet:251671|NCIT:C92552																		owl:Class
MONDO:0021637	biolink:NamedThing	low grade glioma	A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.	mondoexuq1wtf	low-grade glioma|low grade glioma											UMLS:C1997217|NCIT:C132067																		owl:Class
MONDO:0010053	biolink:NamedThing	hereditary spherocytosis type 3	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	mondoexuq1wtf	spherocytosis, hereditary, 3|HS3|SPTA1 hereditary spherocytosis|SPH3|hereditary spherocytosis caused by mutation in SPTA1|spherocytosis, type 3|hereditary spherocytosis 3											OMIM:270970|DOID:0110918|UMLS:C2678338|MESH:C567489																		owl:Class
MONDO:0043226	biolink:NamedThing	postpartum amenorrhea-galactorrhea syndrome		mondoexuq1wtf	postpartum amenorrhea-galactorrhea syndrome|Chiari-frommel syndrome|Frommel's disease|postpartum amenorrhoea-galactorrhea syndrome|Frommel disease|syndrome, Chiari-Frommel|persistent postpartum amenorrhea-galactorrhea syndrome|Chiari Frommel syndrome|disease, Frommel|disease, Frommel's											MESH:D002640|SCTID:85039006|GARD:0006037|EFO:1001291																		owl:Class
MONDO:0008210	biolink:NamedThing	patterned macular dystrophy 1	Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	mondoexuq1wtf	patterned macular dystrophy type 1|patterned macular dystrophy caused by mutation in PRPH2|patterned dystrophy of retinal pigment epithelium|macular dystrophy, butterfly-Shaped pigmentary|MDPT1|butterfly-shaped pigmentary maculary dystrophy 1|butterfly-shaped pigment dystrophy of the fovea|macular dystrophy, patterned, 1|PRPH2 patterned macular dystrophy|macular dystrophy, patterned, type 1|macular dystrophy, butterfly-shaped pigmentary|butterfly dystrophy of retinal pigment epithelium											OMIM:169150|DOID:0060866																		owl:Class
MONDO:0043678	biolink:NamedThing	chromosome inversion	A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.	mondoexuq1wtf	inversion, chromosome|chromosome Inversions|chromosomal inversion|Inversions, chromosomal|chromosomal Inversions|inverted chromosome|inversion, chromosomal|Inversions, chromosome|inv|inversion											NCIT:C6827|MESH:D007446																		owl:Class
MONDO:0001608	biolink:NamedThing	vagus nerve neoplasm	A neoplasm involving a vagus nerve.	mondoexuq1wtf	tenth cranial nerve neoplasms|neoplasm of the Vagus nerve|tumor of the Vagus nerve|Vagus nerve tumor|neoplasm of Vagus nerve|Vagus nerve neoplasms|neoplasm of tenth cranial nerve|tumor of the tenth cranial nerve|tumor of vagus nerve|tenth cranial nerve tumor|neoplasm of vagus nerve|Xth cranial nerve neoplasms|tenth cranial nerve tumors|vagus nerve neoplasm (disease)|Xth cranial nerve tumors|tenth cranial nerve neoplasm|vagus nerve tumor|neoplasm of the tenth cranial nerve|Vagus nerve tumors|tumor of Vagus nerve|Vagus nerve neoplasm|tumor of tenth cranial nerve											ICD9:239.7|NCIT:C5831|SCTID:126976007|UMLS:C1263901|DOID:12984																		owl:Class
MONDO:0017752	biolink:NamedThing	defect in V-ATPase		mondoexuq1wtf												ICD10:E77.8|Orphanet:309778																		owl:Class
MONDO:0016802	biolink:NamedThing	mitochondrial protein import disorder		mondoexuq1wtf												UMLS:CN227003|Orphanet:254834																		owl:Class
MONDO:0020594	biolink:NamedThing	abducens nerve disease	A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).	mondoexuq1wtf	VIth nerve disorder|abducens nerve disease|disorder of abducens nerve|disease of abducens nerve|disease or disorder of abducens nerve|abducens nerve disease or disorder|abducens nerve disorder											NCIT:C27593|SCTID:398925009																		owl:Class
MONDO:0020656	biolink:NamedThing	human papillomavirus-related penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.	mondoexuq1wtf	human papillomavirus-related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma											NCIT:C27682																		owl:Class
MONDO:0016718	biolink:NamedThing	choroid plexus carcinoma	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)	mondoexuq1wtf	malignant neoplasm of choroid plexus|cancer of the choroid plexus|anaplastic choroid plexus papilloma|carcinoma, choroid plexus, malignant|carcinoma of the choroid plexus|choroid plexus carcinoma|choroid plexus carcinoma (morphologic abnormality)|malignant tumor of choroid plexus|carcinoma of choroid plexus|choroid plexus cancer|malignant neoplasm of the choroid plexus|cancer of choroid plexus											MedDRA:10067478|SCTID:188292007|ONCOTREE:CPC|ICD10:C71.7|NCIT:C4715|MESH:C562943|GARD:0008238|DOID:5648|Orphanet:251899|ICDO:9390/3																		owl:Class
MONDO:0011232	biolink:NamedThing	migraine, familial hemiplegic, 2	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.	mondoexuq1wtf	ATP1A2 familial or sporadic hemiplegic migraine|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|familial hemiplegic migraine type 2|hemiplegic migraine, familial type 2|Mhp2|migraine, familial hemiplegic, 2|FHM2|migraine, familial hemiplegic, type 2|migraine, familial basilar											UMLS:C1865322|DOID:0111182|GARD:0010095|OMIM:602481																		owl:Class
MONDO:0005844	biolink:NamedThing	chalazion	An eyelid cyst caused by the blockage of a meibomian gland.	mondoexuq1wtf	chalazia|cyst, Meibomian|Meibomian cyst|chalazion|meibomian gland lipogranuloma											UMLS:C0007933|ICD9:373.2|SCTID:1482004|EFO:0007363|MESH:D017043|ICD10:H00.1|DOID:9903|COHD:381581|NCIT:C26717																		owl:Class
MONDO:0004917	biolink:NamedThing	internal hordeolum	A hordeolum that results from infection of a meibomian gland.	mondoexuq1wtf	infected meibomian cyst|tarsal gland hordeolum|infected cyst of meibomian gland|infected chalazion|hordeolum of tarsal gland|infection of meibomian gland|hordeolum internum|internal hordeolum|meibomian adenitis											ICD9:373.12|ICD10:H00.02|COHD:377560|DOID:9908|UMLS:C0085690|SCTID:414521009																		owl:Class
MONDO:0006380	biolink:NamedThing	pleural sarcomatoid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.	mondoexuq1wtf	sarcomatoid mesothelioma of pleura|pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma											NCIT:C45663|EFO:1000486|UMLS:C1709578																		owl:Class
MONDO:0009384	biolink:NamedThing	Leydig cell hypoplasia, type 1	Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.	mondoexuq1wtf	Leydig cell Hypoplasia, type 2|LHCGR Leydig cell hypoplasia|hypergonadotropic hypogonadism, Male, due to Lhcgr defect|Leydig cell agenesis|Leydig cell hypoplasia, complete|Leydig cell hypoplasia with male pseudohermaphroditism|Leydig cell hypoplasia, type I|Leydig cell hypoplasia, partial|Leydig cell hypoplasia caused by mutation in LHCGR|luteinizing hormone resistance, female											OMIM:238320																		owl:Class
MONDO:0019752	biolink:NamedThing	pediatric Castleman disease	Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.	mondoexuq1wtf												UMLS:CN206684|Orphanet:93682|ICD10:D36.0																		owl:Class
MONDO:0016219	biolink:NamedThing	dysmorphism-pectus carinatum-joint laxity syndrome	Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.	mondoexuq1wtf	dysmorphism-pectus carinatum-joint laxity syndrome|Guizar Vasquez Sanchez Manzano syndrome|Guízar Vázquez-Sánchez-Manzano syndrome											GARD:0000352|Orphanet:2104|ICD10:Q87.8|UMLS:CN237430														https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome				owl:Class
MONDO:0043786	biolink:NamedThing	serositis	Inflammation of a serous membrane.	mondoexuq1wtf	serositis|serous membrane inflammation|inflammation of serous membrane|Serositides											SCTID:370469003|MESH:D012700|NCIT:C70428																		owl:Class
MONDO:0002862	biolink:NamedThing	bile duct sarcoma	A sarcoma that involves the bile duct.	mondoexuq1wtf	bile duct sarcoma|sarcoma of bile duct|sarcoma of the bile duct											DOID:4064																		owl:Class
MONDO:0018263	biolink:NamedThing	fetal carbamazepine syndrome	A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.	mondoexuq1wtf												Orphanet:370076|ICD10:Q86.8|UMLS:C0432370|ICD9:760.8|UMLS:CN204839|SCTID:254249002																		owl:Class
MONDO:0013774	biolink:NamedThing	trigonocephaly 2	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.	mondoexuq1wtf	trigonocephaly 2|FREM1 isolated trigonocephaly|trigonocephaly type 2|TRIGNO2|isolated trigonocephaly caused by mutation in FREM1|craniosynostosis, metopic											OMIM:614485																		owl:Class
MONDO:0100412	biolink:NamedThing	acute myeloid leukemia, monoallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)	mondoexuq1wtf	AML, CEBP Monoallelic Gene Mutation|AML, C/EBP-Alpha Monoallelic Gene Mutation|AML, monoallelic CEBPA gene mutation|AML, CEBPA Monoallelic Mutation|AML, CEBPA Monoallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, C/EBPalpha Monoallelic Gene Mutation|AML, moCEBPA|AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation																													owl:Class
MONDO:0060779	biolink:NamedThing	acquired Fanconi syndrome	Fanconi Syndrome caused by exposure to noxious agents.	mondoexuq1wtf	acquired Fanconi syndrome											UMLS:C0341702|SCTID:236467001|NCIT:C78296																		owl:Class
MONDO:0000470	biolink:NamedThing	endocardium disease	A disease involving the endocardium.	mondoexuq1wtf	endocardial disease|disease of endocardium|disorder of endocardium|endocardium disease or disorder|endocardium disease|disease or disorder of endocardium|endocardiopathy											DOID:0050825|SCTID:123596001|UMLS:C0854140																		owl:Class
MONDO:0004270	biolink:NamedThing	breast ductal adenoma	A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.	mondoexuq1wtf	breast ductal adenoma|ductal adenoma											NCIT:C40384|UMLS:C1511307|DOID:7538																		owl:Class
MONDO:0001921	biolink:NamedThing	chronic atticoantral disease	A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.	mondoexuq1wtf	chronic atticoantral suppurative otitis media											ICD9:382.2|UMLS:C0565831|COHD:260730|UMLS:C0155441|DOID:14248|ICD10:H66.20|ICD10:H66.2|SCTID:267759006																		owl:Class
MONDO:0017924	biolink:NamedThing	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	mondoexuq1wtf	Yoshimura-Takeshita syndrome											Orphanet:3240|UMLS:CN204056																		owl:Class
MONDO:0017828	biolink:NamedThing	primary renal tubular acidosis		mondoexuq1wtf												Orphanet:314822|ICD10:N25.8																		owl:Class
MONDO:0012412	biolink:NamedThing	complement component 7 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.	mondoexuq1wtf	C7D|C7 deficiency|classic complement early component deficiency caused by mutation in C7|complement component 7 deficiency|C7 classic complement early component deficiency											MESH:C566443|ICD10:D84.1|DOID:0060300|UMLS:C1864694|OMIM:610102																		owl:Class
MONDO:0006089	biolink:NamedThing	appendix goblet cell carcinoid	An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine.	mondoexuq1wtf	goblet cell carcinoid of appendix|goblet cell carcinoid of the appendix|appendix adenocarcinoid tumor|mucinous carcinoid tumor|appendix goblet cell carcinoid tumor|appendix mixed carcinoid-adenocarcinoma|goblet cell carcinoid tumor											NCIT:C3689|ONCOTREE:GCCAP|EFO:1000090|ICDO:8243/3																		owl:Class
MONDO:0021659	biolink:NamedThing	combined carcinoid and adenocarcinoma	A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.	mondoexuq1wtf	mixed carcinoid tumor|adenocarcinoid neoplasm|composite carcinoid tumor|combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|composite carcinoid|mixed carcinoid neoplasm|composite carcinoid neoplasm|adenocarcinoid tumor|combined carcinoid tumor and adenocarcinoma											UMLS:C0334302|ICDO:8244/3|GARD:0005741|MESH:C538230|NCIT:C4139|ICDO:8245/3																		owl:Class
MONDO:0016811	biolink:NamedThing	renal tubulopathy-encephalopathy-liver failure syndrome	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.	mondoexuq1wtf												ICD10:E88.8|UMLS:CN202065|Orphanet:254902																		owl:Class
MONDO:0007415	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 1	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.	mondoexuq1wtf	BCS1L mitochondrial complex III deficiency|mitochondrial complex III deficiency|Complex 3 mitochondrial respiratory chain deficiency|mitochondrial complex III deficiency, nuclear type 1|mitochondrial Complex 3 deficiency, nuclear type 1|MC3DN1|mitochondrial complex III deficiency caused by mutation in BCS1L											GARD:0008295|OMIM:124000|DOID:0080111|MESH:C565128														https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency				owl:Class
MONDO:0011442	biolink:NamedThing	advanced sleep phase syndrome 1	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.	mondoexuq1wtf	FASPS1|advanced sleep phase syndrome type 1|advanced sleep phase syndrome, familial, type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome caused by mutation in PER2|advanced sleep phase syndrome, familial, 1|familial advanced sleep phase syndrome 1											DOID:0110011|UMLS:C3807327|OMIM:604348																		owl:Class
MONDO:0008687	biolink:NamedThing	Woronets trait		mondoexuq1wtf	Woronets trait											OMIM:194320																		owl:Class
MONDO:0044329	biolink:NamedThing	osteogenesis imperfecta, type 18	Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).	mondoexuq1wtf	OI18|osteogenesis imperfecta, type XVIII											OMIM:617952|UMLS:CN244563																		owl:Class
MONDO:0023153	biolink:NamedThing	tuberculous ascites		mondoexuq1wtf	tuberculous ascites|Tuberculous ascites|Tuberculous Ascites											UMLS:C0275919|SCTID:4501007|NCIT:C27076																		owl:Class
MONDO:0008472	biolink:NamedThing	spondyloepiphyseal dysplasia, MacDermot type	Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	mondoexuq1wtf	spondyloepiphyseal dysplasia, myopia, and sensorineural deafness|spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome											OMIM:184000|ICD10:Q77.7|UMLS:C1866719|Orphanet:163668|MESH:C566659																		owl:Class
MONDO:0007417	biolink:NamedThing	Darier disease	Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.	mondoexuq1wtf	keratosis follicularis|Darier disease, acral hemorrhagic type|Darier's disease|Darier White disease|dar|Darier-White disease|Darier disease|DAR|Darier disease, segmental											SCTID:48611009|OMIM:124200|DOID:2734|Orphanet:218|Wikipedia:Darier%27s_disease|ICD10:Q82.8|GARD:0006243|MedDRA:10023369|UMLS:C0022595|ICD9:757.39|ICD10:E50.8|NCIT:C84665																		owl:Class
MONDO:0005872	biolink:NamedThing	nervous system cancer	A primary or metastatic malignant neoplasm involving the nervous system.	mondoexuq1wtf	nervous system neoplasm|malignant tumor of the nervous system|nervous system cancer|malignant neoplasm of the nervous system|malignant nervous system neoplasm|tumor of the nervous system|neural neoplasm|malignant tumor of nervous system|malignant neoplasm of nervous system|malignant nervous system tumor|nervous system neoplasms, malignant|cancer of nervous system|neural tumor											NCIT:C4788|ICD9:192.9|DOID:3093|ICD9:192|EFO:0007392|SCTID:372063002|MESH:D009423|ICD9:192.8																		owl:Class
MONDO:0003486	biolink:NamedThing	basaloid squamous cell carcinoma	A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.	mondoexuq1wtf	basaloid carcinoma|basaloid carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma											ICDO:8083/3|DOID:5522|NCIT:C54244|UMLS:C1266005																		owl:Class
MONDO:0006102	biolink:NamedThing	basaloid carcinoma	A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.	mondoexuq1wtf	basaloid carcinoma											NCIT:C4121|ICDO:8123/3|EFO:1000105																		owl:Class
MONDO:0002304	biolink:NamedThing	protein S deficiency	Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.	mondoexuq1wtf	Protein S deficiency|Protein S deficiency disease					Editor note: TODO axiomatize						GARD:0004524|MESH:D018455|SCTID:1563006|UMLS:C0242666|HGNC:9456|DOID:2451|ICD10:D68.59|NCIT:C99026|ICD9:289.81														https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency				owl:Class
MONDO:0014525	biolink:NamedThing	combined oxidative phosphorylation defect type 23	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.	mondoexuq1wtf	COXPD23|combined oxidative phosphorylation deficiency type 23|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3|GTPBP3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 23											ICD10:I42.2|UMLS:C4015447|EFO:0009033|OMIM:616198|Orphanet:444013|DOID:0111500																		owl:Class
MONDO:0020505	biolink:NamedThing	ravine syndrome	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	mondoexuq1wtf	Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome|progressive encephalopathy with severe infantile anorexia											Orphanet:99852|UMLS:CN207401|ICD10:E75.2|SCTID:715794009|UMLS:C4275006																		owl:Class
MONDO:0011312	biolink:NamedThing	thyroid carcinoma, nonmedullary, with or without cell oxyphilia		mondoexuq1wtf	thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO|TCO1|TCO 1|nonmedullary thyroid carcinoma, with or without cell oxyphilia											OMIM:603386|GARD:0008488|UMLS:C1863925|MESH:C537842														https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia				owl:Class
MONDO:0019120	biolink:NamedThing	pili bifurcati	Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.	mondoexuq1wtf												SCTID:717360009|Orphanet:720|ICD10:L67.8																		owl:Class
MONDO:0001629	biolink:NamedThing	Jaccoud syndrome		mondoexuq1wtf	Jaccoud syndrome|Jaccoud's syndrome											ICD10:M12.0|ICD10:M12.00|SCTID:84801008|ICD9:714.4|DOID:13080|COHD:72994|UMLS:C0152084																		owl:Class
MONDO:0013712	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 5	Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.	mondoexuq1wtf	surfactant metabolism dysfunction, pulmonary, 5|pulmonary alveolar proteinosis 5|surfactant metabolism dysfunction, pulmonary, type 5|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|SMDP5|Pap due to Csf2Rb deficiency|Csf2Rb deficiency|CSF2RB hereditary pulmonary alveolar proteinosis											OMIM:614370|UMLS:C3280574																		owl:Class
MONDO:0007523	biolink:NamedThing	Ehlers-Danlos syndrome, hypermobility type	Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.	mondoexuq1wtf	Ehlers-Danlos syndrome type 3 (formerly)|hypermobile Ehlers-Danlos syndrome|benign joint hypermobility syndrome|EDS3 (formerly)|HT-EDS|EDSHMB|Ehlers-Danlos syndrome, hypermobility type|hEDS|benign hypermobility syndrome|Ehlers-Danlos syndrome type 3|Ehlers-Danlos syndrome, hypermobile type|Ehlers-Danlos syndrome, type III|Ehlers-Danlos syndrome, type 3|hypermobile EDS|EDS III|EDS 3|BJHS											Orphanet:285|ICD10:Q79.6|OMIM:130020|MESH:C536196|NCIT:C125698|GARD:0002081|SCTID:30652003|DOID:14757|UMLS:C0268337																		owl:Class
MONDO:0025096	biolink:NamedThing	malignant catarrh	A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.	mondoexuq1wtf	malignant catarrhal fever|fevers, malignant catarrhal|catarrhal fever, malignant|catarrh, malignant|malignant catarrhal fevers|Catarrhs, malignant|malignant Catarrhs|catarrhal fevers, malignant|fever, malignant catarrhal											MESH:D008304|UMLS:C0276241|SCTID:24043009																		owl:Class
MONDO:0016503	biolink:NamedThing	congenital erosive and vesicular dermatosis		mondoexuq1wtf	congenital erosive and vesicular dermatosis with reticulated supple scarring|CEVD											Orphanet:231573																		owl:Class
MONDO:0007879	biolink:NamedThing	larynx atresia	A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.	mondoexuq1wtf	congenital atresia of the larynx|congenital atresia of larynx|laryngeal atresia|congenital partial atresia of the larynx|larynx, congenital partial atresia OF											GARD:0003194|Orphanet:1202|ICD9:748.3|GARD:0003192|ICD10:Q31.8|MESH:C563637|SCTID:64981002|NCIT:C98972|UMLS:C0265756|OMIM:150300																		owl:Class
MONDO:0014091	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.	mondoexuq1wtf	mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type|mitochondrial complex deficiency caused by mutation in ATP5F1A|MC5DN4|ATP5F1A mitochondrial complex deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4											ICD10:E88.8|DOID:0060333|UMLS:C3808899|OMIM:615228																		owl:Class
MONDO:0020727	biolink:NamedThing	combined oxidative phosphorylation deficiency 22		mondoexuq1wtf	combined oxidative phosphorylation deficiency 22|combined oxidative phosphorylation deficiency type 22|COXPD22											OMIM:616045|DOID:0111498																		owl:Class
MONDO:0007610	biolink:NamedThing	gingival fibromatosis-hypertrichosis syndrome	Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	mondoexuq1wtf	hypertrichosis with or without gingival hyperplasia|chromosome 17Q24.2-q24.3 deletion syndrome|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17Q24.2-q24.3 syndrome|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|microdeletion 17Q24.2-q24.3 syndrome|fibromatosis, gingival, with hypertrichosis|chromosome 17Q24.2-q24.3 Duplication syndrome|congenital generalized hypertrichosis terminalis|hereditary gingival fibromatosis with hypertrichosis|HTC3|hypertrichosis terminalis, generalized, with gingival hyperplasia|CGHT|extreme hirsutism with gingival fibromatosis|hypertrichosis, congenital generalized, with or without gingival hyperplasia|gingival fibromatosis with hypertrichosis											MESH:C565016|Orphanet:2026|ICD10:L68.8|GARD:0002324|OMIM:135400|SCTID:716008002														https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis				owl:Class
MONDO:0044638	biolink:NamedThing	hypopharynx squamous cell carcinoma	A squamous cell carcinoma that involves the hypopharynx.	mondoexuq1wtf	epidermoid carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer|hypopharyngeal epidermoid carcinoma|hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|epidermoid carcinoma of hypopharynx|squamous cell carcinoma of hypopharynx											ONCOTREE:HPHSC|NCIT:C4043|EFO:1001960|Orphanet:494547																		owl:Class
MONDO:0005216	biolink:NamedThing	hypopharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.	mondoexuq1wtf	hypopharyngeal cancer|carcinoma of the hypopharynx|hypopharynx carcinoma|cancer of hypopharynx|cancer of the hypopharynx|hypopharyngeal throat cancer|carcinoma of hypopharynx|hypopharyngeal carcinoma					Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx						EFO:0002938|NCIT:C9465																		owl:Class
MONDO:0032914	biolink:NamedThing	ciliary dyskinesia, primary, 44		mondoexuq1wtf	CILD44|CILIARY DYSKINESIA, PRIMARY, 44|Ciliary Dyskinesia, Primary, 44, Without Situs Inversus											OMIM:618781																		owl:Class
MONDO:0008783	biolink:NamedThing	Tangier disease	Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.	mondoexuq1wtf	HDLDT1|tgd|familial Hypoalphalipo-proteinemia|A-alphalipoprotein neuropathy|Alpha high density lipoprotein deficiency disease|Analphalipoproteinemia|high density lipoprotein deficiency, type 1|Analphalipo-proteinemia|defective adenosine triphosphate-binding cassette transporter A1|familial alpha-lipoprotein deficiency|familial high density lipoprotein deficiency|Tangier disease|high density lipoprotein deficiency, Tangier type|familial high density lipoprotein deficiency disease|ATP-binding cassette transporter A1 deficiency|cholesterol thesaurismosis|HDL lipoprotein deficiency disease											SCTID:723579009|OMIM:205400|UMLS:C0039292|GARD:0007731|DOID:1388|MedDRA:10051875|ICD10:E78.6|NCIT:C85182|Orphanet:31150|MESH:D013631																		owl:Class
MONDO:0008030	biolink:NamedThing	facioscapulohumeral muscular dystrophy 1	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.	mondoexuq1wtf	muscular dystrophy, facioscapulohumeral|facioscapulohumeral muscular dystrophy 1A|muscular dystrophy, facioscapulohumeral, type 1|FSHD1|FRG1 facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|FSHD|FSHMD1A|facioscapulohumeral muscular dystrophy type 1|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|facioscapulohumeral muscular dystrophy, infantile|facioscapulohumeral muscular dystrophy 1|facioscapulohumeral muscular dystrophy|FMD|muscular dystrophy, facioscapulohumeral, type 1A|Landouzy-Dejerine muscular dystrophy|FSHD1A											GARD:0009941|OMIM:158900|DOID:0111192|MESH:C536391														https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy				owl:Class
MONDO:0021541	biolink:NamedThing	hemangioma of retina	A hemangioma that involves the retina.	mondoexuq1wtf	angioma of retina|angioma of the retina|retinal hemangioma|retinal angioma|retina angioma|hemangioma of the retina|retina hemangioma											NCIT:C3634|UMLS:C0154051|SCTID:93470007|ICD9:228.03																		owl:Class
MONDO:0003068	biolink:NamedThing	postauricular lymphadenitis	Inflammation of the postauricular lymph nodes.	mondoexuq1wtf	lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease)											UMLS:C0919638|NCIT:C27332|DOID:4638																		owl:Class
MONDO:0013190	biolink:NamedThing	factor XIII, b subunit, deficiency of		mondoexuq1wtf	factor XIII, b subunit, deficiency of											OMIM:613235|MESH:C567688																		owl:Class
MONDO:0005609	biolink:NamedThing	herpes zoster	A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.	mondoexuq1wtf	postherpetic neuralgia|herpes Zoster|shingles|Zoster|herpes zona											EFO:0006510|NCIT:C71079|SCTID:4740000|ICD9:053|MESH:D006562|DOID:8536|ICD10:B02|COHD:443943|ICD10:B02.9|UMLS:C0019360																		owl:Class
MONDO:0022873	biolink:NamedThing	corpus callosum dysgenesis cleft spasm		mondoexuq1wtf												GARD:0001541														https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm				owl:Class
MONDO:0700001	biolink:NamedThing	shrinking lung syndrome	A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.	mondoexuq1wtf	small lungs|shrinking of the lung|SLS					Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis.		http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0011181	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 2	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.	mondoexuq1wtf	CFEOM2|PHOX2A congenital fibrosis of extraocular muscles|fibrosis of extraocular muscles, congenital, type 2|fibrosis of extraocular muscles, congenital, 2|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|Feom2 locus|fibrosis of extraocular muscles, congenital, autosomal recessive											MESH:C566587|OMIM:602078|UMLS:C1865915																		owl:Class
MONDO:0015053	biolink:NamedThing	hereditary angioedema type 1	Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	HAE-I|hereditary angioneurotic edema type 1|HAE 1											ICD10:D84.1|Orphanet:100050|ICD9:279.8|SCTID:234619000																		owl:Class
MONDO:0006569	biolink:NamedThing	leg dermatosis	A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)	mondoexuq1wtf												MESH:D007868|UMLS:C0023219|EFO:1000723|DOID:3142																		owl:Class
MONDO:0007851	biolink:NamedThing	keratoconus 1	Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.	mondoexuq1wtf	KTCN1|keratoconus type 1|keratoconus 1|keratoconus (disease) caused by mutation in VSX1|VSX1 keratoconus (disease)											MESH:C563649|OMIM:148300|UMLS:C1835677																		owl:Class
MONDO:0009217	biolink:NamedThing	Fanconi-like syndrome	A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.	mondoexuq1wtf	Fanconi-like syndrome											UMLS:C0151638|DOID:0090066|MESH:C536855|SCTID:236469003|OMIM:227850																		owl:Class
MONDO:0019831	biolink:NamedThing	congenital anomaly of the coronary sinus		mondoexuq1wtf												Orphanet:95500|ICD10:Q21.1																		owl:Class
MONDO:0017710	biolink:NamedThing	congenital systemic veins anomaly		mondoexuq1wtf												Orphanet:3091																		owl:Class
MONDO:0015496	biolink:NamedThing	macroglossia	The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)	mondoexuq1wtf	enlarged tongue|giant tongue											ICD10:Q38.2|Orphanet:156207|MedDRA:10025391|UMLS:C0024421|MESH:D008260|GARD:0003342																		owl:Class
MONDO:0032895	biolink:NamedThing	developmental and epileptic encephalopathy, 83		mondoexuq1wtf	epileptic encephalopathy, early infantile, 83|DEE83|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83|Barakat-Perenthaler Syndrome|EIEE83											OMIM:618744																		owl:Class
MONDO:0012774	biolink:NamedThing	chromosome 15q13.3 microdeletion syndrome	15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.	mondoexuq1wtf	15q13.3 microdeletion|chromosome 15q13.3 microdeletion syndrome|microdeletion 15q13.3 syndrome|monosomy 15q13.3|Del(15)(q13.3)|chromosome 15q13.3 deletion syndrome|15q13.3 microdeletion syndrome											ICD10:Q93.5|DOID:0060394|GARD:0010296|SCTID:699254009|OMIM:612001|Orphanet:199318|MESH:C567439																		owl:Class
MONDO:0015208	biolink:NamedThing	syndromic esophageal malformation	A esophageal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with esophageal malformation|syndromic esophageal malformation											Orphanet:108961|UMLS:CN226625																		owl:Class
MONDO:0018007	biolink:NamedThing	mosaic genome-wide paternal uniparental disomy		mondoexuq1wtf	androgenetic/biparental mosaicism|genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD											Orphanet:329813|UMLS:CN230278																		owl:Class
MONDO:0032926	biolink:NamedThing	sandestig-stefanova syndrome		mondoexuq1wtf	SANDESTIG-STEFANOVA SYNDROME|SANDSTEF											OMIM:618804																		owl:Class
MONDO:0007620	biolink:NamedThing	fish eye disease	Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.	mondoexuq1wtf	alpha-lecithin:cholesterol acyltransferase deficiency|fed|fish-eye disease|partial LCAT deficiency|LCATA deficiency|dyslipoproteinemic corneal dystrophy|alpha-lecithin cholesterol acyltransferase deficiency|fish eye disease|alpha-LCAT deficiency											GARD:0006450|ICD10:E78.6|SCTID:238092004|UMLS:C0342895|Orphanet:79292|OMIM:136120														https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease				owl:Class
MONDO:0019409	biolink:NamedThing	idiopathic juvenile osteoporosis	Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.	mondoexuq1wtf	Ijo|juvenile osteoporosis|osteoporosis, juvenile|idiopathic juvenile osteoporosis|Pediatric osteoporosis|idiopathic osteoporosis											DOID:12559|NCIT:C119996|ICD10:M81.5|Orphanet:85193|ICD9:733.02|OMIM:259750|MESH:C537700|UMLS:CN536248|GARD:0006760|SCTID:3345002																		owl:Class
MONDO:0003852	biolink:NamedThing	ovarian solid teratoma	A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.	mondoexuq1wtf												UMLS:C1335181|DOID:6315|NCIT:C7285																		owl:Class
MONDO:0001110	biolink:NamedThing	chronic pyelonephritis	Persistent pyelonephritis.	mondoexuq1wtf	pyelonephritis, chronic											SCTID:63302006|ICD10:N11.9|COHD:4269363|ICD10:N11|DOID:1076|UMLS:C0085697|ICD9:590.0|NCIT:C123216																		owl:Class
MONDO:0010945	biolink:NamedThing	retinitis pigmentosa 17	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.	mondoexuq1wtf	CA4 retinitis pigmentosa|RP17|retinitis pigmentosa type 17|retinitis pigmentosa caused by mutation in CA4|retinitis pigmentosa 17|RP 17											OMIM:600852|UMLS:C1833245|GARD:0010387|DOID:0110404|MESH:C563437|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17				owl:Class
MONDO:0011798	biolink:NamedThing	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration		mondoexuq1wtf	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration|harp syndrome											UMLS:C1846582|Orphanet:157855|OMIM:607236|MESH:C564603																		owl:Class
MONDO:0015597	biolink:NamedThing	pustulosis palmaris et plantaris		mondoexuq1wtf	Lpp|pustular psoriasis of the palms and/or soles|palmoplantar pustulosis|pustulosis of palm and sole|PPP|acropustulosis|localized pustular psoriasis											DOID:4398|SCTID:81271001|MedDRA:10050185|SCTID:27520001|ICD9:696.1|Orphanet:163927|GARD:0012820|NCIT:C34888|ICD10:L40.3																		owl:Class
MONDO:0004405	biolink:NamedThing	Barrett adenocarcinoma	An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002	mondoexuq1wtf	Barrett adenocarcinoma|adenocarcinoma arising in Barrett's mucosa|Barrett's adenocarcinoma											SCTID:721617001|NCIT:C7027|EFO:1001939|UMLS:C1332460|DOID:7941																		owl:Class
MONDO:0013855	biolink:NamedThing	influenza, severe, susceptibility to		mondoexuq1wtf	influenza, severe, susceptibility to|susceptibility to severe influenza											OMIM:614680																		owl:Class
MONDO:0006622	biolink:NamedThing	vulvar seborrheic keratosis	A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.	mondoexuq1wtf	seborrheic keratosis of mammalian vulva|seborrheic keratosis of the vulva|mammalian vulva seborrheic keratosis|seborrheic keratosis of vulva											UMLS:C1336981|EFO:1000779|DOID:6944|NCIT:C6375																		owl:Class
MONDO:0011445	biolink:NamedThing	hereditary spastic paraplegia 11	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.	mondoexuq1wtf	spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|autosomal recessive spastic paraplegia type 11|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|spastic paraplegia 11|spastic paraplegia 11, autosomal recessive|hereditary spastic paraplegia caused by mutation in SPG11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|Nakamura-Osame syndrome|hereditary spastic paraplegia type 11|SPG11|spastic paraplegia - intellectual deficit - thin corpus callosum|autosomal recessive spastic paraplegia 11|HSP-TCC|SPG11 hereditary spastic paraplegia|hereditary spastic paraplegia mental impairment and thin corpus callosum|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|Nakamura Osame syndrome											NCIT:C148317|GARD:0004919|Orphanet:2822|DOID:0110764|SCTID:715491000|ICD10:G11.4|OMIM:604360																		owl:Class
MONDO:0010952	biolink:NamedThing	hereditary hyperferritinemia with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.	mondoexuq1wtf	hyperferritinemia, hereditary, with congenital cataracts|hereditary hyperferritinemia cataract syndrome|hereditary hyperferritinemia-cataract syndrome|cataract-hyperferritinemia syndrome|hyperferritinemia-cataract syndrome|hyperferritinemia cataract syndrome|hyperferritinemia with or without cataract|HRFTC|Bonneau-Beaumont syndrome|HHCS											ICD9:366.44|OMIM:600886|Orphanet:163|ICD10:H26.0|UMLS:C1833213|SCTID:702398007|DOID:0111256|ICD9:289.89|MESH:C538137|GARD:0002806																		owl:Class
MONDO:0002617	biolink:NamedThing	bone angiosarcoma	A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.	mondoexuq1wtf	osseous hemangiosarcoma|osseous angiosarcoma|bone angiosarcoma|bone tissue angiosarcoma (disease)|bone angioendothelial sarcoma|osseous angioendothelial sarcoma|angiosarcoma (disease) of bone tissue|bone Hemangioendothelial sarcoma|bone hemangiosarcoma											NCIT:C6479|UMLS:C1332574|DOID:3351																		owl:Class
MONDO:0013188	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.	mondoexuq1wtf	dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|CAMRQ3|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3|CA8 dysequilibrium syndrome											MESH:C567690|OMIM:613227|UMLS:C2750509																		owl:Class
MONDO:0002781	biolink:NamedThing	glossopharyngeal nerve paralysis	Paralysis of the glossopharyngeal nerve.	mondoexuq1wtf	glossopharyngeal nerve cranial nerve palsy|cranial nerve palsy of glossopharyngeal nerve											NCIT:C27335|UMLS:C0919940|DOID:3816																		owl:Class
MONDO:0019044	biolink:NamedThing	tumor of hematopoietic and lymphoid tissues		mondoexuq1wtf												UMLS:CN205528|Orphanet:68347																		owl:Class
MONDO:0008642	biolink:NamedThing	VACTERL/vater association	VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.	mondoexuq1wtf	VATER syndrome|VATER/VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER association|VACTERL association											DOID:14679|OMIM:192350|MedDRA:10053665|ICD9:759.89|MedDRA:10066022|UMLS:C0220708|NCIT:C99105|UMLS:CN206312|ICD10:Q87.2|UMLS:C1735591|SCTID:27742002|Orphanet:887|GARD:0005443																		owl:Class
MONDO:0012855	biolink:NamedThing	Joubert syndrome 8	Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.	mondoexuq1wtf	ARL13B Joubert syndrome|Joubert syndrome 8|Joubert syndrome type 8|Joubert syndrome caused by mutation in ARL13B|JBTS8											OMIM:612291|MESH:C567358|DOID:0111003|UMLS:C2676771																		owl:Class
MONDO:0006419	biolink:NamedThing	small intestinal intraepithelial neoplasia	A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.	mondoexuq1wtf	small intestinal dysplasia|small intestinal intraepithelial neoplasia											NCIT:C27462|EFO:1000536|UMLS:C1335999																		owl:Class
MONDO:0000783	biolink:NamedThing	orange allergy	A fruit allergy triggered by Citrus sinensis plant fruit food product.	mondoexuq1wtf	Citrus sinensis fruit allergy|orange allergy											DOID:0060508																		owl:Class
MONDO:0011332	biolink:NamedThing	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin		mondoexuq1wtf	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin											OMIM:603529|UMLS:C3807235																		owl:Class
MONDO:0008839	biolink:NamedThing	ataxia-microcephaly-cataract syndrome		mondoexuq1wtf	ataxia-microcephaly-cataract syndrome|AMC syndrome											UMLS:C0796056|MESH:C563086|OMIM:208870																		owl:Class
MONDO:0017183	biolink:NamedThing	hyperinsulinism due to UCP2 deficiency	HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	mondoexuq1wtf	hyperinsulinemic hypoglycemia due to UCP2 deficiency											ICD10:E16.1|UMLS:C4303082|Orphanet:276556|SCTID:721834007																		owl:Class
MONDO:0009307	biolink:NamedThing	granulomatous disease with defect in neutrophil chemotaxis		mondoexuq1wtf	granulomatous disease with defect in neutrophil chemotaxis											UMLS:C1856261|MESH:C565534|OMIM:233670																		owl:Class
MONDO:0023809	biolink:NamedThing	Milner-Khallouf-Gibson syndrome		mondoexuq1wtf	microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome											MESH:C537473|UMLS:C2931503|GARD:0003670														https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome				owl:Class
MONDO:0060729	biolink:NamedThing	protoporphyria, erythropoietic, 2		mondoexuq1wtf	protoporphyria, erythropoietic, 2|EPP2											OMIM:618015|UMLS:CN248523																		owl:Class
MONDO:0015241	biolink:NamedThing	arthrogryposis-like syndrome	Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.	mondoexuq1wtf	Kuskokwim syndrome|Kuskokwim disease|arthrogryposis like disorder											ICD9:719.89|GARD:0000783|GARD:0003150|Orphanet:1149|SCTID:702447002														https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder				owl:Class
MONDO:0019297	biolink:NamedThing	lymphedema	Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.	mondoexuq1wtf	lymphatic edema (morphologic abnormality)|lymphatic edema|lymphoedema											MedDRA:10025282|COHD:435839|DOID:4977|UMLS:C0024236|GARD:0012563|SCTID:234097001|Orphanet:79383|NCIT:C3207|MESH:D008209|ICD9:457.1																		owl:Class
MONDO:0002912	biolink:NamedThing	brainstem cancer	A primary or metastatic malignant neoplasm that affects the brain stem.	mondoexuq1wtf	neoplasm of brain stem|malignant brainstem tumor|malignant brain stem tumor|primary brain stem tumor|malignant neoplasm of the brain stem|malignant neoplasm of the brainstem|malignant tumor of brainstem|tumor of the brainstem|brain stem cancer|primary brain stem neoplasm|malignant tumor of the brain stem|malignant tumor of the brainstem|cancer of brainstem|neoplasm of adult brain stem|malignant brainstem neoplasm|malignant neoplasm of brain stem|malignant tumor of brain stem|brainstem cancer|malignant neoplasm of brainstem|malignant brain stem neoplasm											DOID:4203|ICD9:191.7|ICD10:C71.7|SCTID:363473003|MESH:D020295|NCIT:C3570|COHD:4180908|GARD:0008244														https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer				owl:Class
MONDO:0003086	biolink:NamedThing	thymic mucoepidermoid carcinoma	A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.	mondoexuq1wtf	thymic mucoepidermoid carcinoma|thymus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|Thymus mucoepidermoid carcinoma|mucoepidermoid carcinoma of Thymus											DOID:4678|UMLS:C1334814|NCIT:C6457																		owl:Class
MONDO:0016215	biolink:NamedThing	spastic quadriplegia	A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.	mondoexuq1wtf	inherited congenital spastic tetraplegia|tetraplegic infantile cerebral palsy|spastic quadriplegic cerebral palsy|quadriplegic infantile cerebral palsy|inherited congenital spastic quadriplegia											OMIMPS:603513|ICD9:343.2|SCTID:192965001|DOID:10970|UMLS:C0154697|ICD10:G11.4|ICD9:344.09|NCIT:C116904|Orphanet:210141																		owl:Class
MONDO:0007040	biolink:NamedThing	Sakati-Nyhan syndrome	An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.	mondoexuq1wtf	acrocephalopolysyndactyly type 3|Sakati-Nyhan-Tisdale syndrome|acrocephalopolysyndactyly type III|ACPS3|ACPS with leg hypoplasia|Sakati syndrome|Sakati-Nyhan syndrome|ACPS 3											Orphanet:3128|SCTID:403768004|GARD:0000115|ICD10:Q87.0|DOID:0060359|MESH:C537227|UMLS:C1275079|OMIM:101120																		owl:Class
MONDO:0000078	biolink:NamedThing	acrocephalopolysyndactyly	A common presentation of craniosynostosis and polysyndactyly.	mondoexuq1wtf	ACPS											DC:0000331|UMLS:C0687154|SCTID:205260006																		owl:Class
MONDO:0016909	biolink:NamedThing	partial monosomy of the long arm of chromosome 10		mondoexuq1wtf	partial monosomy of chromosome 10q|partial deletion of chromosome 10q|partial monosomy of the long arm of chromosome type 10|partial deletion of the long arm of chromosome 10											UMLS:C0795839|ICD10:Q93.5|Orphanet:262083																		owl:Class
MONDO:0037744	biolink:NamedThing	neoplasm of retromolar area		mondoexuq1wtf	neoplasm of retromolar area|tumor of retromolar area											SCTID:126804008|UMLS:C0345590																		owl:Class
MONDO:0016568	biolink:NamedThing	Lowe-Kohn-Cohen syndrome	Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	deafness nephritis anorectal malformation|Lowe Kohn Cohen syndrome|deafness-nephritis-ano-rectal malformation syndrome|deafness - nephritis - ano-rectal malformation|dominant ano-rectal malformation, nephritis and nerve-deafness					Editor note: check GARD assignment						UMLS:C2931080|ICD10:Q87.8|MESH:C535996|GARD:0001695|Orphanet:2408|SCTID:766249007														https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation				owl:Class
MONDO:0014457	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 5	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.	mondoexuq1wtf	hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|PIGW hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 5|hyperphosphatasia with mental retardation syndrome 5|glycosylphosphatidylinositol biosynthesis defect 11|hyperphosphatasia with mental retardation syndrome type 5|hyperphosphatasia with intellectual disability syndrome 5|GPIBD11|HPMRS5											UMLS:C4014958|OMIM:616025																		owl:Class
MONDO:0007508	biolink:NamedThing	Rapp-Hodgkin syndrome	A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.	mondoexuq1wtf	ectodermal dysplasia, anhidrotic, with cleft lip-palate|Rapp-Hodgkin ectodermal dysplasia syndrome|RHS|cleft lip with or without cleft palate, nonsyndromic, 8|OFC8, included|anhidrotic ectodermal dysplasia with cleft lip/palate|Rapp-Hodgkin syndrome|orofacial cleft 8|ectodermal dysplasia, anhidrotic, with cleft Lip/palate					Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum						OMIM:129400|UMLS:CN203427|MESH:C535289|SCTID:7731005|GARD:0005690|DOID:0060330|Orphanet:3022														https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome				owl:Class
MONDO:0033013	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 3		mondoexuq1wtf	EKVP3|erythrokeratodermia variabilis ET progressiva 3											DOID:0080249|UMLS:C4479619|OMIM:617525																		owl:Class
MONDO:0009721	biolink:NamedThing	Nathalie syndrome	Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.	mondoexuq1wtf	sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|deafness-cataract-skeletal anomalies syndrome|Nathalie syndrome|deafness-cataracts-skeletal anomalies syndrome											Orphanet:2663|OMIM:255990|ICD10:Q87.8|SCTID:716170005|MESH:C538342|GARD:0003929|UMLS:C1850626														https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome				owl:Class
MONDO:0013176	biolink:NamedThing	ichthyosis-short stature-brachydactyly-microspherophakia syndrome		mondoexuq1wtf	15q26.3 microdeletion syndrome|Weill-Marchesani-like syndrome|Weill-Marchesani syndrome 4|WMS4											Orphanet:363992|MESH:C567710|UMLS:C2750787|ICD10:Q93.5|OMIM:613195																		owl:Class
MONDO:0022432	biolink:NamedThing	alves Castelo dos Santos syndrome		mondoexuq1wtf	ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract											MESH:C536593																		owl:Class
MONDO:0011286	biolink:NamedThing	autosomal recessive nonsyndromic deafness 13	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.	mondoexuq1wtf	deafness, autosomal recessive 13|autosomal recessive nonsyndromic deafness type 13|DFNB13|autosomal recessive deafness 13											DOID:0110468|MESH:C566410|OMIM:603098|ICD10:H90.3|UMLS:C1864199																		owl:Class
MONDO:0003512	biolink:NamedThing	mediastinal mesenchymal tumor	A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.	mondoexuq1wtf	mediastinal soft tissue tumor|soft tissue tumor of the mediastinum|mediastinal soft tissue neoplasm|soft tissue tumor of mediastinum|soft tissue neoplasm of mediastinum|soft tissue neoplasm of the mediastinum											NCIT:C6637|UMLS:C1334669|DOID:5560																		owl:Class
MONDO:0013780	biolink:NamedThing	retinitis pigmentosa 63	A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.	mondoexuq1wtf	RP63|retinitis pigmentosa type 63|retinitis pigmentosa 63											UMLS:C3281002|ICD10:H35.5|DOID:0110385|OMIM:614494																		owl:Class
MONDO:0100193	biolink:NamedThing	chronic liver failure	Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.	mondoexuq1wtf	end-stage liver disease|end stage liver disease (decompensated liver disease)|end stage liver disease|ESLD							http://orcid.org/0000-0001-5208-3432				NCIT:C84428																		owl:Class
MONDO:0100192	biolink:NamedThing	liver failure	A liver disease characterized by the liver losing or has lost all of its function.	mondoexuq1wtf	hepatic failure							http://orcid.org/0000-0001-5208-3432				NCIT:C26922																		owl:Class
MONDO:0004114	biolink:NamedThing	urinary bladder small cell neuroendocrine carcinoma	A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.	mondoexuq1wtf	poorly differentiated neuroendocrine carcinoma of the bladder|small cell carcinoma of the urinary bladder|small cell neuroendocrine carcinoma of urinary bladder|small cell carcinoma of the bladder|small cell bladder carcinoma|small cell bladder cancer|small cell/neuroendocrine carcinoma of urinary bladder|small cell neuroendocrine carcinoma of the urinary bladder|bladder small cell neuroendocrine cancer|small cell carcinoma of urinary bladder|SCCB|bladder small cell neuroendocrine carcinoma|urinary bladder small cell carcinoma											ICD10:C67.0|ONCOTREE:SCBC|UMLS:CN202866|NCIT:C9461|ICD10:C67.9|UMLS:C1332564|ICD10:C67.6|DOID:7132|EFO:1000129|GARD:0011923|ICD10:C67.8|ICD10:C67.2|ICD10:C67.4|Orphanet:284400|ICD10:C67.1|ICD10:C67.3|ICD10:C67.5|ICD10:C67.7														https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder				owl:Class
MONDO:0017071	biolink:NamedThing	thoracolumbosacral spina bifida cystica		mondoexuq1wtf												Orphanet:268752																		owl:Class
MONDO:0024638	biolink:NamedThing	pancreatic gastrinoma	A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.	mondoexuq1wtf	pancreatic gastrinoma											NCIT:C95596																		owl:Class
MONDO:0007669	biolink:NamedThing	renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.	mondoexuq1wtf	FJHN atypical|glomerulocystic kidney, familial hypoplastic|glomerulocystic kidney disease, hypoplastic type|renal cysts and diabetes syndrome|maturity-onset diabetes of the young type 5|renal cysts-maturity-onset diabetes of the young syndrome|CAKUT with diabetes|HNF1B-MODY|atypical familial juvenile hyperuricemic nephropathy|hyperuricemic nephropathy, familial juvenile, atypical|RCAD|renal dysfunction-early-onset diabetes syndrome|MODY type 5|atypical FJHN|maturity onset diabetes of the Young, type 5|RCAD syndrome|MODY5|congenital anomalies of the kidney and urinary tract with diabetes|HNF1B-related renal cysts and diabetes syndrome|familial hypoplastic glomerulocystic kidney|maturity-onset diabetes of the Young, type 5|hypoplastic type glomerulocystic kidney disease|FJHN, atypical|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes											OMIM:137920|GARD:0010221|NCIT:C123018|SCTID:446641003|Orphanet:93111|MESH:C535520|UMLS:CN206512|UMLS:C0431693|DOID:0111101|ICD10:E11.2														https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5				owl:Class
MONDO:0008916	biolink:NamedThing	cardiomyopathy associated with myopathy and sudden death		mondoexuq1wtf	cardiomyopathy associated with myopathy and sudden death											UMLS:C1859328|OMIM:212130|MESH:C565881																		owl:Class
MONDO:0019828	biolink:NamedThing	pituitary stalk interruption syndrome	Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	mondoexuq1wtf	ectopic neurohypophysis|PSIS|hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary											Orphanet:95496|UMLS:C4053775|UMLS:CN206776|NCIT:C121150|SCTID:715727009|ICD10:E23.6|GARD:0013209														https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome				owl:Class
MONDO:0003891	biolink:NamedThing	bladder signet ring cell adenocarcinoma	A signet ring cell carcinoma that involves the urinary bladder.	mondoexuq1wtf	signet Ring cell adenocarcinoma of urinary bladder|signet Ring cell adenocarcinoma of bladder|urinary bladder signet ring cell carcinoma|signet Ring cell adenocarcinoma of the urinary bladder|signet Ring cell adenocarcinoma of the bladder|signet ring cell adenocarcinoma of bladder|urinary bladder signet Ring adenocarcinoma|bladder signet ring cell adenocarcinoma											UMLS:C1332563|NCIT:C6163|DOID:6481																		owl:Class
MONDO:0012994	biolink:NamedThing	dopa-responsive dystonia due to sepiapterin reductase deficiency	Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.	mondoexuq1wtf	dopa-responsive dystonia due to sepiapterin reductase deficiency|SRD|DRD due to SRD|autosomal recessive sepiapterin reductase-deficient DRD|sepiapterin reductase deficiency|dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|DYT-SPR|SPR deficiency											MESH:C562657|ICD10:G24.1|SCTID:45116002|ICD9:277.89|GARD:0010365|OMIM:612716|UMLS:C0268468|Orphanet:70594|DOID:0111168																		owl:Class
MONDO:0012596	biolink:NamedThing	PSAT deficiency	Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.	mondoexuq1wtf	phosphoserine aminotransferase deficiency|PSATD|PSAT deficiency											UMLS:C1970253|GARD:0013273|ICD10:E72.8|MESH:C567032|DOID:0050723|Orphanet:284417|OMIM:610992|SCTID:718603002																		owl:Class
MONDO:0007406	biolink:NamedThing	cryofibrinogenemia, familial primary		mondoexuq1wtf	cryofibrinogenemia, familial primary											UMLS:C1852457|OMIM:123540|MESH:C565142																		owl:Class
MONDO:0009270	biolink:NamedThing	genito-palato-cardiac syndrome	Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	mondoexuq1wtf	Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect|Gardner-Silengo-Wachtel syndrome|genito palato cardiac syndrome|GENITOPALATOCARDIAC syndrome											MESH:C537683|UMLS:C1856466|GARD:0002460|ICD10:Q87.8|OMIM:231060|Orphanet:2075														https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome				owl:Class
MONDO:0005526	biolink:NamedThing	tetanus	A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.	mondoexuq1wtf	lockjaw|Clostridium tetani caused infectious disease of the nervous system|infection due to Clostridium tetani|Clostridium tetani infectious disease of the nervous system|clostridial tetanus					We treat tetanus and infection due to Clostridium tetani as synonymous						GARD:0005144|EFO:0005593|SCTID:76902006|Orphanet:3299|ICD9:037|ICD10:A35|NCIT:C85185|UMLS:C0039614|ICD10:A34|MedDRA:10043376|COHD:435740|MESH:D013742|DOID:11338|SCTID:276202003|ICD10:A33														https://rarediseases.info.nih.gov/diseases/5144/tetanus				owl:Class
MONDO:0000733	biolink:NamedThing	cornea plana		mondoexuq1wtf	flat cornea											ICD10:Q13.4|SCTID:204145006|DOID:0060287|HP:0007720|OMIMPS:121400																		owl:Class
MONDO:0016282	biolink:NamedThing	rhabdomyosarcoma of the cervix uteri	A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.	mondoexuq1wtf	CERMS|rhabdomyosarcoma (disease) of uterine cervix|uterine cervix rhabdomyosarcoma (disease)|uterine cervix rhabdomyosarcoma|cervical rhabdomyosarcoma											UMLS:CN201072|ICD10:C53.1|SCTID:763408003|ONCOTREE:CERMS|ICD10:C53.8|NCIT:C128048|UMLS:C4289809|ICD10:C53.0|Orphanet:213802																		owl:Class
MONDO:0011463	biolink:NamedThing	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	mondoexuq1wtf	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive											MESH:C565773|UMLS:C1858353|Orphanet:538096|OMIM:604431																		owl:Class
MONDO:0022409	biolink:NamedThing	nephropathy-associated ciliopathy		mondoexuq1wtf												Orphanet:156162																		owl:Class
MONDO:0019618	biolink:NamedThing	Sheehan syndrome	An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.	mondoexuq1wtf	postpartum panhypopituitary syndrome|postpartum pituitary necrosis|Sheehan's syndrome|postpartum hypopituitarism|postpartum panhypopituitarism											GARD:0007630|ICD10:E23.0|MedDRA:10036297|DOID:9476|Orphanet:91355|NCIT:C35300|SCTID:290653008|UMLS:C0242342																		owl:Class
MONDO:0004849	biolink:NamedThing	pulmonary emphysema	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.	mondoexuq1wtf	emphysema|emphysema, pulmonary											DOID:9675|ICD9:492|MESH:D011656|COHD:261325|SCTID:87433001|ICD10:J43|DC:0000512|NCIT:C3348|MESH:D004646|ICD9:492.8|ICD10:J43.8|EFO:0000464|GARD:0011937																		owl:Class
MONDO:0020359	biolink:NamedThing	congenital symblepharon		mondoexuq1wtf												ICD10:Q11.2|Orphanet:98948|DOID:0111720																		owl:Class
MONDO:0007410	biolink:NamedThing	isolated cryptophthalmia	Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.	mondoexuq1wtf	cryptophthalmos with microphthalmia and Peters anomaly|cryptophthalmos, unilateral or bilateral, isolated|nonsyndromic cryptophthalmia|ankyloblepharon, simple											MESH:C565138|ICD10:Q11.2|Orphanet:91396|SCTID:718691008|DOID:0111717|OMIM:123570|UMLS:C1852453																		owl:Class
MONDO:0003172	biolink:NamedThing	glomeruloid hemangioma		mondoexuq1wtf												UMLS:C1304511|DOID:486|NCIT:C27505|SCTID:403976007																		owl:Class
MONDO:0003869	biolink:NamedThing	childhood brain stem glioma	An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.	mondoexuq1wtf	childhood glioma of the brainstem|pediatric glioma of brain stem|pediatric glioma of brainstem|childhood brain stem glioma|childhood brainstem glioma|brain stem glioma of childhood|pediatric glioma of the brain stem|pediatric brain stem glioma|childhood glioma of brain stem|pediatric glioma of the brainstem|childhood glioma of brainstem|childhood glioma of the brain stem|brain stem glioma|pediatric brainstem glioma											UMLS:C0278600|GARD:0009306|NCIT:C9042|DOID:6383														https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma				owl:Class
MONDO:0100230	biolink:NamedThing	fatty acyl-CoA reductase 1 dysregulation	A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.	mondoexuq1wtf	FAR1 dysregulation|fatty acyl-CoA reductase 1 dysregulation							https://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0100275	biolink:NamedThing	fatty acyl-CoA reductase defects	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.	mondoexuq1wtf	fatty acyl-CoA reductase defects|FAR1 defect							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0034103	biolink:NamedThing	infection-related hemolytic uremic syndrome		mondoexuq1wtf												Orphanet:544482																		owl:Class
MONDO:0009953	biolink:NamedThing	leukocyte adhesion deficiency type II	Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.	mondoexuq1wtf	LAD2|CDG IIc|CDG 2C|sialyl-Lewis X defect|leukocyte adhesion deficiency, type 2|CDG2C|congenital disorder of glycosylation type IIC|Rambam-Hasharon syndrome|SLC35C1-CDG (CDG-IIc)|leukocyte adhesion deficiency, type II|CDGIIc|lad-II|congenital disorder of glycosylation, type IIc|CDG-IIc|CDG syndrome type IIc|lad-type II|RHS|leukocyte adhesion deficiency type 2|SLC35C1-CDG											NCIT:C4690|GARD:0004634|GARD:4634|Orphanet:99843|SCTID:234583001|UMLS:C0398739|DOID:0070255|ICD10:D84.8|OMIM:266265|MESH:C535755																		owl:Class
MONDO:0020782	biolink:NamedThing	chronic gingivitis	Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.	mondoexuq1wtf	Chronic gingivitis|Chronic Gingivitis|chronic gingivitis											NCIT:C34474|SCTID:72621003|ICD9:523.1|UMLS:C0008684|ICD9:523.10																		owl:Class
MONDO:0002508	biolink:NamedThing	gingivitis	A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.	mondoexuq1wtf	acute gingivitis|chronic gingivitis|inflammation of gingiva|gingiva inflammation|gingivitis											ICD10:K05.10|ICD9:523.1|UMLS:C0017574|NCIT:C34636|ICD10:K05.1|MESH:D005891|ICD10:K05.00|ICD10:K05.0|ICD9:523.0|SCTID:66383009|DOID:3087|ICD9:523.10																		owl:Class
MONDO:0003758	biolink:NamedThing	childhood testicular germ cell tumor	A germ cell tumor that arises from the testis during childhood.	mondoexuq1wtf	pediatric testicular germ cell tumor|pediatric testicular germ cell neoplasm|childhood testicular germ cell neoplasm|childhood testicular germ cell tumor|testicular germ cell tumor of childhood|testicular germ cell tumor											UMLS:C0796663|NCIT:C6552|DOID:6082																		owl:Class
MONDO:0013588	biolink:NamedThing	Perrault syndrome 3	Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.	mondoexuq1wtf	Perrault syndrome type 3|CLPP Perrault syndrome|PRLTS3|deafness, autosomal recessive 81|deafness, autosomal recessive 81, formerly|Perrault syndrome 3|Perrault syndrome caused by mutation in CLPP					based on OMIM phenotypic series 220290.						OMIM:614129|UMLS:C3808414																		owl:Class
MONDO:0019131	biolink:NamedThing	ossification anomalies-psychomotor developmental delay syndrome	Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.	mondoexuq1wtf												ICD10:Q79.8|Orphanet:73230|UMLS:CN227577																		owl:Class
MONDO:0001220	biolink:NamedThing	hypoparathyroidism	Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.	mondoexuq1wtf	parathyroid, underactivity of|hypoparathyroidism, idiopathic (subtype)											NCIT:C78350|MESH:D007011|DOID:11199|ICD10:E20|SCTID:36976004|ICD9:252.1|GARD:0006733|ICD10:E20.9|COHD:140362														https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism				owl:Class
MONDO:0014344	biolink:NamedThing	congenital heart defects, multiple types, 4	Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.	mondoexuq1wtf	congenital heart defects, multiple types caused by mutation in NR2F2|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types, 4|CHTD4											UMLS:C4014310|OMIM:615779																		owl:Class
MONDO:0000924	biolink:NamedThing	compensatory emphysema		mondoexuq1wtf												UMLS:C0155918|SCTID:33325001|DOID:10031|ICD10:J98.3|ICD9:518.2|COHD:261895																		owl:Class
MONDO:0004904	biolink:NamedThing	toxic maculopathy		mondoexuq1wtf	toxic maculopathy of retina											COHD:377848|UMLS:C0271086|ICD9:362.55|SCTID:44115007|DOID:9867|ICD10:H35.38																		owl:Class
MONDO:0007989	biolink:NamedThing	congenital microcoria	Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.	mondoexuq1wtf	microcoria, congenital|miosis, congenital|Mcor|pinhole pupils|congenital miosis|chromosome 13Q32 deletion syndrome											SCTID:400962005|OMIM:156600|GARD:0003635|MESH:C537550|Orphanet:566														https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital				owl:Class
MONDO:0006484	biolink:NamedThing	usual ductal breast hyperplasia	A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.	mondoexuq1wtf	UDH|ductal breast hyperplasia of usual type|ordinary intraductal breast hyperplasia											EFO:1000612|SCTID:472905007|NCIT:C27941|ICD9:611.89|UMLS:C3532429																		owl:Class
MONDO:0017550	biolink:NamedThing	humero-radial synostosis, unilateral		mondoexuq1wtf	humero-radial fusion, unilateral											Orphanet:295209|ICD10:Q74.0																		owl:Class
MONDO:0007737	biolink:NamedThing	humeroradial synostosis	Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.	mondoexuq1wtf	humeroradial synostosis (disease)|humero-radial synostosis|humeroradial synostosis|humero-radial fusion		humeroradial synostosis (disease)									Orphanet:3265|OMIM:143050|ICD9:755.59|SCTID:205329008|HP:0003041|DOID:0060467|GARD:0002748|ICD10:Q74.0																		owl:Class
MONDO:0008689	biolink:NamedThing	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema		mondoexuq1wtf	dehydrated hereditary stomatocytosis|xerocytosis, hereditary|DHS1|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|Desiccytosis, hereditary|DHS|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema|pseudohyperkalemia Edinburgh|pseudohyperkalemia, familial, 1, due to Red cell leak|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema											OMIM:194380|GARD:0010676														https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema				owl:Class
MONDO:0017910	biolink:NamedThing	dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	mondoexuq1wtf	Desiccytosis hereditary|hereditary xerocytosis|xerocytosis hereditary											ICD10:D58.8|DC:0000714|Orphanet:3202|SCTID:715526002|DOID:0111575|GARD:0005623																		owl:Class
MONDO:0005648	biolink:NamedThing	aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure.	mondoexuq1wtf	aortic regurgitation|aortic insufficiency|Corrigan's disease|rheumatic aortic valve regurgitation|rheumatic aortic insufficiency|aortic incompetence|rheumatic aortic valve insufficiency|rheumatic aortic regurgitation											MESH:D001022|COHD:439834|UMLS:C0155568|UMLS:C0003504|ICD9:396.3|EFO:0007148|SCTID:78031003|DOID:57|ICD9:395.1|ICD10:I06.1|NCIT:C51223																		owl:Class
MONDO:0018851	biolink:NamedThing	familial keratoacanthoma	Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	mondoexuq1wtf	hereditary keratoacanthoma|multiple keratoacanthoma					Editor note: consider adding subtypes						Orphanet:493|ICD10:L85.8|UMLS:CN227546|SCTID:716774008																		owl:Class
MONDO:0005715	biolink:NamedThing	congenital toxoplasmosis	Toxoplasma infection that is present from birth.	mondoexuq1wtf	Toxoplasma embryofetopathy|Toxoplasma embryopathy|toxoplasmosis, congenital|toxoplasmosis - congen.|mother-to-child transmission of toxoplasmosis|congenital toxoplasmosis											Orphanet:858|SCTID:73893000|EFO:0007220|GARD:0010326|NCIT:C50503|ICD10:P37.1|UMLS:C0040560|MESH:D014125|DOID:13336|ICD9:771.2|MedDRA:10010652																		owl:Class
MONDO:0005989	biolink:NamedThing	toxoplasmosis	A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.	mondoexuq1wtf	disseminated toxoplasmosis|Toxoplasma gondii caused disease or disorder|Toxoplasma gondii infectious disease|Toxoplasma gondii disease or disorder											UMLS:C0040558|ICD10:B58|ICD9:130.9|DOID:9965|NCIT:C3418|COHD:440653|EFO:0007517|ICD10:B58.9|ICD9:130|ICD9:130.7|MESH:D014123|SCTID:187192000																		owl:Class
MONDO:0012530	biolink:NamedThing	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	mondoexuq1wtf	palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome|palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal|palmoplantar hyperkeratosis and true hermaphroditism											ICD10:Q56.0|OMIM:610644|Orphanet:85112|MESH:C567165																		owl:Class
MONDO:0017022	biolink:NamedThing	secondary interstitial lung disease specific to childhood associated with a systemic vasculitis		mondoexuq1wtf	secondary ILD specific to childhood associated with a systemic vasculitis											Orphanet:264709|UMLS:CN202335																		owl:Class
MONDO:0014813	biolink:NamedThing	hypomyelinating leukodystrophy 13	Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.	mondoexuq1wtf	hikeshi leukodystrophy|leukodystrophy, hypomyelinating, 13|leukodystrophy caused by mutation in HIKESHI|hypomyelinating leukodystrophy type 13|leukodystrophy caused by mutation in hikeshi|leukodystrophy, hypomyelinating, type 13|HLD13|HIKESHI leukodystrophy											DOID:0060795|OMIM:616881|UMLS:C4225170																		owl:Class
MONDO:0025691	biolink:NamedThing	dystonia 30		mondoexuq1wtf	DYT30											OMIM:619291																		owl:Class
MONDO:0024954	biolink:NamedThing	larva migrans, visceral	A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.	mondoexuq1wtf	Migran, visceral larva|larva Migran, visceral|visceral larva migrans syndrome|migrans, visceral larva|visceral larva Migran|visceral larva migrans											MESH:D007816																		owl:Class
MONDO:0002598	biolink:NamedThing	germinoma	A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.	mondoexuq1wtf	germinoma (disease)|germinoma		germinoma (disease)									MESH:D018237|NCIT:C3753|UMLS:C0206660|DOID:3304|ICDO:9064/3|HP:0100620|ONCOTREE:GMN																		owl:Class
MONDO:0002594	biolink:NamedThing	monkeypox	An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.	mondoexuq1wtf	Monkeypox virus infection|infections, Monkeypox virus											ICD9:059.01|SCTID:359814004|GARD:0010722|MESH:D045908|UMLS:C0276180|DOID:3292|ICD9:136.8|ICD10:B04|NCIT:C128421														https://rarediseases.info.nih.gov/diseases/10722/monkeypox				owl:Class
MONDO:0011116	biolink:NamedThing	lung agenesis-heart defect-thumb anomalies syndrome	Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.	mondoexuq1wtf	pulmonary aplasia and triphalangia of the thumb|LACHT|Mardini-Nyhan association|Manouvrier syndrome|Mardini-Nyhan syndrome|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies											MESH:C535708|GARD:0003378|OMIM:601612|Orphanet:1120|SCTID:721976003|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome				owl:Class
MONDO:0015222	biolink:NamedThing	syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is part of a larger syndrome.	mondoexuq1wtf	syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation											UMLS:CN226638|Orphanet:108995																		owl:Class
MONDO:0006276	biolink:NamedThing	lung inflammatory myofibroblastic tumor	An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	mondoexuq1wtf	inflammatory myofibroblastic lung tumor|lung inflammatory myofibroblastic tumor											UMLS:C1518038|NCIT:C39740|ICDO:8827/1|ONCOTREE:IMTL|EFO:1000333																		owl:Class
MONDO:0009149	biolink:NamedThing	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	mondoexuq1wtf	ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum											OMIM:225040|Orphanet:1812|UMLS:C1857053|MESH:C565605|ICD10:Q87.8																		owl:Class
MONDO:0005940	biolink:NamedThing	respirovirus infectious disease	Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.	mondoexuq1wtf	infections, Respirovirus											UMLS:C3714630|MESH:D010253|EFO:0007465																		owl:Class
MONDO:0012082	biolink:NamedThing	asperger syndrome, susceptibility to, 1		mondoexuq1wtf	ASPERGER syndrome, susceptibility to, 1|ASPG1											OMIM:608638|UMLS:C1837646																		owl:Class
MONDO:0008091	biolink:NamedThing	abnormal neutrophil chemotactic response		mondoexuq1wtf	NM|neutrophil chemotactic response|neutrophil migration											OMIM:162820																		owl:Class
MONDO:0012753	biolink:NamedThing	amyotrophic lateral sclerosis type 9	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.	mondoexuq1wtf	amyotrophic lateral sclerosis caused by mutation in ANG|amyotrophic lateral sclerosis 9|ALS9|amyotrophic lateral sclerosis type 9|ANG amyotrophic lateral sclerosis											UMLS:C2678468|GARD:0010498|DOID:0060200|MESH:C567499|OMIM:611895														https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9				owl:Class
MONDO:0000344	biolink:NamedThing	Ross river fever	A disease caused by infection with Ross River virus.	mondoexuq1wtf	Ross River virus infectious disease|Ross River virus disease|Ross River virus disease or disorder|Ross River virus caused disease or disorder											DOID:0050518|SCTID:602001|UMLS:C0035865																		owl:Class
MONDO:0010736	biolink:NamedThing	split hand-foot malformation 2	A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.	mondoexuq1wtf	split-hand/split-foot anomaly, X-linked|split-hand/foot malformation 2|SHFD2|split hand foot deformity 2|split hand foot anomaly - X-linked|split-hand/foot deformity 2|SHSF2|split hand/foot malformation X-linked|SHFM2|split hand-foot malformation type 2											ICD10:Q71.6|OMIM:313350|MESH:C564056|GARD:0004968|DOID:0090027																		owl:Class
MONDO:0016576	biolink:NamedThing	split hand-foot malformation	Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.	mondoexuq1wtf	split hand-split foot malformation|SHFM|FEWER digits|isolated split hand-split foot malformation|ectrodactyly|split-hand deformity|split hand foot malformation|split-hand/foot malformation|lobster-claw deformity											SCTID:81208006|GARD:0006319|Orphanet:2440|DOID:0090020|NCIT:C75000|ICD10:Q72.7|OMIMPS:183600|ICD10:Q71.6|UMLS:C0265554																		owl:Class
MONDO:0011939	biolink:NamedThing	Spondyloenchondrodysplasia with immune dysregulation		mondoexuq1wtf	spondylometaphyseal dysplasia with combined immunodeficiency|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|spondyloenchondromatosis|spondyloenchondrodysplasia with immune dysregulation|SPENCDI|spondylometaphyseal dysplasia with enchondromatous changes|SEM|spondyloenchondrodysplasia|SPENCD|Roifman Immunoskeletal syndrome											SCTID:703523004|ICD9:756.9|EFO:0002326|OMIM:271550|MESH:C564307|OMIM:607944|GARD:0004978|Orphanet:1855|UMLS:C1842763|ICD10:Q77.7|Orphanet:50816|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia				owl:Class
MONDO:0009743	biolink:NamedThing	neurologic disease, infantile multisystem, with osseous fragility		mondoexuq1wtf	neurologic disease, infantile multisystem, with osseous fragility											MESH:C564954|OMIM:256720|UMLS:C1850465																		owl:Class
MONDO:0011550	biolink:NamedThing	fibromatosis, gingival, with hypertrichosis and intellectual disability		mondoexuq1wtf	fibromatosis, gingival, with hypertrichosis and intellectual disability|fibromatosis, gingival, with hypertrichosis and mental retardation											OMIM:605400|UMLS:C1854306|MESH:C565331																		owl:Class
MONDO:0019307	biolink:NamedThing	generalized junctional epidermolysis bullosa non-Herlitz type	Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.	mondoexuq1wtf	JEB, generalized intermediate|junctional epidermolysis bullosa, Disentis type|JEB-nH gen|GABEB|junctional epidermolysis bullosa generalisata mitis|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|generalized atrophic benign epidermolysis bullosa											ICD10:Q81.8|SCTID:724225008|DOID:0060738|Orphanet:79402|GARD:0012922																		owl:Class
MONDO:0009180	biolink:NamedThing	junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.	mondoexuq1wtf	JEB-I|epidermolysis bullosa, generalized atrophic benign|epidermolysis bullosa, junctional, non-Herlitz type|epidermolysis bullosa, junctional, Localisata variant|JEN-nH|epidermolysis bullosa Junctionalis, severe Nonlethal|JEB-nH|junctional epidermolysis bullosa inversa|epidermolysis bullosa Junctionalis, non-Herlitz type|epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa Junctionalis, progressive											OMIM:226650|Orphanet:89840|ICD9:757.39|ICD10:Q81.8|GARD:0002151|SCTID:33662006																		owl:Class
MONDO:0024607	biolink:NamedThing	congenital muscular dystrophy with cataracts and intellectual disability	A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.	mondoexuq1wtf	muscular dystrophy, congenital, with cataracts and intellectual disability|MDCCAID											EFO:0009149|DOID:0080197|OMIM:617404|UMLS:C4479410																		owl:Class
MONDO:0005699	biolink:NamedThing	cervicofacial actinomycosis	A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.	mondoexuq1wtf	cervicofacial actinomycotic infection|lumpy jaw											EFO:0007203|SCTID:23014006|NCIT:C34351|ICD10:A42.2|UMLS:C0001264|MESH:D000197|ICD9:039.3																		owl:Class
MONDO:0013231	biolink:NamedThing	Leber congenital amaurosis 14	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.	mondoexuq1wtf	LRAT Leber congenital amaurosis|LCA14|Leber congenital amaurosis 14|retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis type 14|retinal dystrophy, early-onset Severe, LRAT-related|Leber congenital amaurosis caused by mutation in LRAT											GARD:0010883|UMLS:C2750063|ICD10:H35.5|OMIM:613341|DOID:0110188|MESH:C567636														https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14				owl:Class
MONDO:0043683	biolink:NamedThing	Leriche syndrome	An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.	mondoexuq1wtf	syndrome, Leriche's|syndrome, Leriche|Leriche's syndrome|Leriche syndrome|leriche's syndrome|Leriches syndrome											UMLS:C0023370|NCIT:C34773|SCTID:307816004|MESH:D007925																		owl:Class
MONDO:0005111	biolink:NamedThing	Epstein-Barr virus infection	An infection that is caused by Epstein-Barr virus.	mondoexuq1wtf	Human Herpes Virus 4 infections|Human gammaherpesvirus 4 infectious disease|Epstein-Barr Virus infection|Virus infections, Epstein-Barr|infections, EBV|infections, Epstein-Barr Virus|Human Herpesvirus 4 infections|EBV infection|EBV infections|Human gammaherpesvirus 4 caused disease or disorder|Human gammaherpesvirus 4 disease or disorder|Epstein Barr Virus infections|Herpesvirus 4 infections, Human											NCIT:C38759|UMLS:C0149678|MESH:D020031|EFO:0000769																		owl:Class
MONDO:0006526	biolink:NamedThing	allergic urticaria	A urticaria with a basis in a pathological type I hypersensitivity reaction.	mondoexuq1wtf	allergic form of urticaria (disease)|allergic form of urticaria|allergic urticaria (disease)											Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|ICD9:708.0|EFO:1000669|ICD10:L50.0|SCTID:40178009|UMLS:C0149526|COHD:139902																		owl:Class
MONDO:0019035	biolink:NamedThing	pancreatoblastoma	Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.	mondoexuq1wtf	pancreatoblastoma (morphologic abnormality)|PB											ONCOTREE:PB|ICD10:C25.1|Orphanet:677|DOID:6823|NCIT:C4265|GARD:0004210|UMLS:C0334489|MESH:C537162|EFO:1000446														https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma				owl:Class
MONDO:0002116	biolink:NamedThing	malignant exocrine pancreas neoplasm	A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	mondoexuq1wtf	malignant neoplasm of the exocrine pancreas|tumor of exocrine pancreas|malignant exocrine pancreas neoplasm|malignant exocrine pancreas tumor|pancreatic exocrine tumor|cancer of exocrine pancreas|malignant neoplasm of exocrine pancreas|malignant tumor of the exocrine pancreas|malignant tumor of exocrine pancreas|exocrine pancreas cancer											DOID:1795|NCIT:C7430|SCTID:255088001|UMLS:C0346648																		owl:Class
MONDO:0021528	biolink:NamedThing	benign neoplasm of male breast	A non-metastasizing neoplasm that arises from the breast parenchyma in males.	mondoexuq1wtf	benign tumor of the Male breast|benign Male breast neoplasm|benign tumor of Male breast|male breast benign neoplasm|benign Male breast tumor|benign neoplasm of the Male breast											SCTID:92206006|NCIT:C4620|UMLS:C0347482																		owl:Class
UBERON:0016410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100101	biolink:NamedThing	fetal akinesia deformation sequence 1	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.	mondoexuq1wtf	FADS1|Pena-Shokeir syndrome type 1|Pena-Shokeir syndrome, type 1							http://orcid.org/0000-0001-5208-3432				DOID:0111377|Orphanet:994|OMIM:208150																		owl:Class
HGNC:7525	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011762	biolink:NamedThing	autosomal recessive nonsyndromic deafness 22	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in OTOA|autosomal recessive deafness 22|deafness, autosomal recessive type 22|OTOA autosomal recessive nonsyndromic deafness|DFNB22|deafness, autosomal recessive 22|autosomal recessive nonsyndromic deafness type 22											DOID:0110480|ICD10:H90.3|OMIM:607039|UMLS:C1846896|MESH:C564633																		owl:Class
HGNC:16378	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014211	biolink:NamedThing	primary ciliary dyskinesia 26	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.	mondoexuq1wtf	primary ciliary dyskinesia caused by mutation in CFAP298|ciliary dyskinesia, primary, 26|CFAP298 primary ciliary dyskinesia|primary ciliary dyskinesia type 26|primary ciliary dyskinesia 26 with or without situs inversus|ciliary dyskinesia, primary, type 26|CILD26|ciliary dyskinesia, primary, 26, with or without situs inversus											UMLS:C3809684|ICD10:Q34.8|OMIM:615500|DOID:0110627																		owl:Class
HGNC:1301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010869	biolink:NamedThing	motor neuron disease with dementia and ophthalmoplegia		mondoexuq1wtf	motor neuron disease with dementia and ophthalmoplegia											OMIM:600333|UMLS:C1838253|MESH:C563954																		owl:Class
MONDO:0003425	biolink:NamedThing	ophthalmoplegia	Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.	mondoexuq1wtf	oculomotor paralysis|total ophthalmoplegia											ICD9:378.56|DOID:539|SCTID:78097002|MESH:D009886																		owl:Class
MONDO:0024491	biolink:NamedThing	tumor grade 1, general grading system	A morphologic qualifier indicating that a cancerous lesion is well differentiated.	mondoexuq1wtf	low grade|grade 1|well differentiated|G1|grade I											NCIT:C28077|LOINC:LA9629-2|UMLS:C0475269																		owl:Class
MONDO:0007728	biolink:NamedThing	acne inversa, familial, 1	Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.	mondoexuq1wtf	hidradenitis suppurativa, familial|acne inversa, familial, type 1|familial acne inversa caused by mutation in NCSTN|NCSTN familial acne inversa|acne inversa, familial, 1|acne inversa, familial|ACNINV1											OMIM:142690|UMLS:CN028850																		owl:Class
HGNC:17091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010680	biolink:NamedThing	X-linked Emery-Dreifuss muscular dystrophy	X-linked form of Emery-Dreifuss muscular dystrophy.	mondoexuq1wtf	Humeroperoneal neuromuscular disease, formerly|EMERY-Dreifuss muscular dystrophy 1, X-linked|scapuloperoneal syndrome, X-linked|EMD1|Emery-Dreifuss muscular dystrophy 1, X-linked|Humeroperoneal neuromuscular disease|EDMD1|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|Emerinopathy|Emery-Dreifuss muscular dystrophy, X-linked|humeroperoneal neuromuscular disease|scapuloperoneal syndrome, X-linked, formerly|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures											DOID:0070246|ICD10:G71.0|UMLS:CN069573|NCIT:C168730|GARD:0002102|Orphanet:98863|UMLS:C0751337|OMIM:310300																		owl:Class
HGNC:3331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013185	biolink:NamedThing	leprosy, susceptibility to, 5	Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.	mondoexuq1wtf	leprosy, susceptibility to, type 5|leprosy caused by mutation in TLR1|leprosy, susceptibility to, 5|leprosy, protection against|susceptibility to leprosy 5|TLR1 leprosy|LPRS5											OMIM:613223																		owl:Class
HGNC:11847	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001643	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008099	biolink:NamedThing	congenital stationary night blindness autosomal dominant 2	Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.	mondoexuq1wtf	congenital stationary night blindness autosomal dominant type 2|night blindness, congenital stationary, autosomal dominant 2|night blindness, congenital stationary, Rambusch type|CSNBAD2|congenital stationary night blindness caused by mutation in PDE6B|Rambusch type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant type 2|PDE6B congenital stationary night blindness											OMIM:163500|UMLS:C1876182|DOID:0110863|MESH:C566869																		owl:Class
HGNC:8786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012763	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 6	Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene.	mondoexuq1wtf	ECA6|epilepsy, childhood absence, susceptibility to, type 6|CACNA1H childhood absence epilepsy|epilepsy, idiopathic generalized, susceptibility to, 6|susceptibility to childhood absence epilepsy 6|childhood absence epilepsy caused by mutation in CACNA1H|epilepsy, childhood absence, susceptibility to, 6											OMIM:611942																		owl:Class
HGNC:1395	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11427	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011067	biolink:NamedThing	autosomal recessive nonsyndromic deafness 12	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.	mondoexuq1wtf	deafness, autosomal recessive type 12|autosomal recessive nonsyndromic deafness type 12|DFNB12|autosomal recessive deafness 12|deafness, autosomal recessive 12											UMLS:C1832394|DOID:0110467|ICD10:H90.3|OMIM:601386|MESH:C563327																		owl:Class
HGNC:815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013613	biolink:NamedThing	Leber congenital amaurosis 16	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.	mondoexuq1wtf	Leber congenital amaurosis 16|Leber congenital amaurosis caused by mutation in KCNJ13|Leber congenital amaurosis type 16|KCNJ13 Leber congenital amaurosis|LCA16											UMLS:C3280062|GARD:0010885|DOID:0110118|ICD10:H35.5|OMIM:614186														https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16				owl:Class
HGNC:6259	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:445	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4177	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013430	biolink:NamedThing	Meier-Gorlin syndrome 3	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.	mondoexuq1wtf	ORC6 Meier-Gorlin syndrome|Meier-GORLIN syndrome 3|Meier-Gorlin syndrome caused by mutation in ORC6|Meier-Gorlin syndrome 3|MGORS3|Meier-Gorlin syndrome type 3											OMIM:613803|DOID:0080514|UMLS:C3151113																		owl:Class
HGNC:17151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21474	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1496	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011424	biolink:NamedThing	Carney triad	Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	mondoexuq1wtf	Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma											GARD:0010924|NCIT:C94833|MESH:C565803|ICD10:D44.8|UMLS:C1858592|Orphanet:139411|SCTID:733492003|OMIM:604287														https://rarediseases.info.nih.gov/diseases/10924/carney-triad				owl:Class
MONDO:0021141	biolink:NamedThing	acquired		mondoexuq1wtf	not genetically inherited											Orphanet:409941																		owl:Class
MONDO:0025397	biolink:NamedThing	canine distemper	A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.	mondoexuq1wtf	distemper, canine|canine Distempers|canine distemper|Distempers|Distempers, canine											MESH:D004216																		owl:Class
NCBITaxon:11232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005810	biolink:NamedThing	infectious mononucleosis	A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.	mondoexuq1wtf	Filatov's disease|monocytic angina|mononucleosis|glandular fever|Mono|Pfeiffer's disease|Gammaherpesviral mononucleosis											MESH:D007244|ICD10:B27|ICD9:075|ICD10:B27.9|ICD10:B27.0|NCIT:C34726|COHD:437784|EFO:0007326|DOID:8568|SCTID:186668002|UMLS:C0021345																		owl:Class
NCBITaxon:10376	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013781	biolink:NamedThing	pseudohypoaldosteronism type 2D	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.	mondoexuq1wtf	pseudohypoaldosteronism type 2 caused by mutation in KLHL3|PHA2D|KLHL3 pseudohypoaldosteronism type 2|familial hyperkalemic hypertension|pseudohypoaldosteronism, type 2D|pseudohypoaldosteronism, type IID											OMIM:614495|UMLS:C3469605|ICD10:I15.1|Orphanet:300525																		owl:Class
HGNC:6354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014421	biolink:NamedThing	glucocorticoid resistance		mondoexuq1wtf	Grl deficiency|Gcr deficiency|Gccr deficiency|glucocorticoid receptor deficiency|cortisol resistance from glucocorticoid receptor defect|glucocorticoid resistance, generalized|GCCR											UMLS:C1841972|ICD10:E25.8|Orphanet:786|OMIM:615962|MESH:C564221|GARD:0002499														https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance				owl:Class
HGNC:7978	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009629	biolink:NamedThing	Desbuquois dysplasia 1	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.	mondoexuq1wtf	Desbuquois dysplasia, Kim variant|DBQD1|desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois dysplasia type 1|CANT1 Desbuquois dysplasia|Desbuquois dysplasia caused by mutation in CANT1|Desbuquois dysplasia 1											OMIM:251450|UMLS:C4012146																		owl:Class
HGNC:19721	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002468	biolink:NamedThing	hyperimmunoglobulin syndrome		mondoexuq1wtf	hyperimmunoglobulin syndrome											NCIT:C27579|DOID:2959|UMLS:C1334069																		owl:Class
GO:0019814	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018467	biolink:NamedThing	nephropathic infantile cystinosis	Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	mondoexuq1wtf	lysosomal cystine transport protein, defect of|cystinosis, infantile nephropathic|CTNS|cystinosin, defect of|cystinosis, atypical nephropathic											ICD10:E72.0+|MONDO:0009065|Orphanet:411629|ICD10:N16.3*																		owl:Class
HP:0003593	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009908	biolink:NamedThing	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.	mondoexuq1wtf	CADH deficiency|tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|PCD deficiency|hyperphenylalaninemia due to dehydratase deficiency|pterin-4 alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia, Bh4-deficient, type D|hyperphenylalaninemia, BH4-deficient, D|hyperphenylalaninemia with primapterinuria|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|PCBD deficiency|PCBD1 deficiency|HPABH4D|dehydratase deficiency					This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband.						MESH:C538382|OMIM:264070|ICD10:E70.1|ICD9:277.6|Orphanet:1578|SCTID:124646004|GARD:0002843																		owl:Class
HGNC:8646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006282	biolink:NamedThing	lymphangiosarcoma	A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.	mondoexuq1wtf	lymphangiosarcoma of Stewart and Treves|lymphangiosarcoma, malignant|malignant lymphangioendothelioma|lymphangioendothelial sarcoma|Stewart-Treves syndrome|lymphangiosarcoma											ICD9:171.9|EFO:1000339|UMLS:C0024224|NCIT:C3205|MESH:D008204|DOID:2689|SCTID:403986008|ICDO:9170/3																		owl:Class
CL:0002138	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100357	biolink:NamedThing	non-classic presentation	A mild or intermediate form of a genetic disease.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3221				owl:Class
MONDO:0021969	biolink:NamedThing	Banti syndrome	A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages.	mondoexuq1wtf	idiopathic portal hypertension|Banti's disease|idiopathic congestive splenomegaly|Banti's syndrome											GARD:0005888|MESH:C537903														https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome				owl:Class
MONDO:0023199	biolink:NamedThing	frontonasal dysplasia phocomelic upper limbs		mondoexuq1wtf												GARD:0002395														https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs				owl:Class
MONDO:0017441	biolink:NamedThing	congenital absence of upper arm and forearm with hand present	A congenital malformation in which the upper portion of a limb is either shortened or absent.	mondoexuq1wtf	humero-radio-ulnar intercalary transverse meromelia|phocomelia											NCIT:C34928|ICD10:Q71.1|Orphanet:294975|GARD:0012123|SCTID:22841008																		owl:Class
HGNC:16068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013263	biolink:NamedThing	retinitis pigmentosa 54	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.	mondoexuq1wtf	retinitis pigmentosa caused by mutation in PCARE|PCARE retinitis pigmentosa|retinitis pigmentosa 54|RP54|retinitis pigmentosa type 54											UMLS:C3150691|ICD10:H35.5|DOID:0110364|OMIM:613428																		owl:Class
HGNC:34383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016577	biolink:NamedThing	biliary atresia with splenic malformation syndrome	Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	mondoexuq1wtf	BASM syndrome											Orphanet:244283|ICD10:Q44.2|SCTID:717156002|UMLS:C4274029|UMLS:CN201730																		owl:Class
MONDO:0006004	biolink:NamedThing	vasomotor rhinitis	Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.	mondoexuq1wtf												COHD:4305500|SCTID:8229003|NCIT:C34988|UMLS:C0035460|MESH:D012223|ICD10:J30.0|DOID:4730|EFO:0007533																		owl:Class
GO:0019229	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001759	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022968	biolink:NamedThing	dextrocardia with situs inversus	Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.	mondoexuq1wtf	situs inversus totalis											GARD:0006268														https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus				owl:Class
HGNC:2195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28727	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013473	biolink:NamedThing	Hirschsprung disease, cardiac defects, and autonomic dysfunction		mondoexuq1wtf	Hirschsprung disease, CARDIAC defects, and autonomic dysfunction|Hirschsprung disease, cardiac defects, and autonomic dysfunction|HCAD											OMIM:613870|MESH:C563939|UMLS:C3151237																		owl:Class
HGNC:3146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009290	biolink:NamedThing	glycogen storage disease II	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.	mondoexuq1wtf	glycogen storage disease II|deficiency of glucoamylase|GAA deficiency|Pompe's disease|Aglucosidase alfa|GSD II|glycogen storage disease type II|lysosomal alpha-1,4-glucosidase deficiency|deficiency of maltase|GAA glycogen storage disease|GSD due to acid maltase deficiency|GSD type 2|Cardiomegalia Glycogenica diffusa|Alpha-1,4-glucosidase deficiency|glycogen storage disease 2|glucosidase acid-1,4-alpha deficiency|Alpha-1,4-glucosidase acid deficiency|GSD2|deficiency of lysosomal alpha-glucosidase|deficiency of alpha-glucosidase|glycogen storage disease due to acid maltase deficiency|acid maltase deficiency disease|GSD type II|Pompe disease|acid maltase deficiency|glycogenosis, type 2|glycogen storage disease, type II|glycogenosis type 2|glycogen storage disease caused by mutation in GAA|glycogen storage disease type 2|generalized glycogenosis|glycogenosis type II|glycogenosis, generalized, Cardiac form|GSD 2|glycogenosis due to acid maltase deficiency											UMLS:C0017921|NCIT:C84734|DOID:2752|GARD:0005714|OMIM:232300|Orphanet:365|GARD:0002503|SCTID:274864009|ICD10:E74.02|UMLS:C1968741|MedDRA:10053185|ICD10:E74.0																		owl:Class
HGNC:4065	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014550	biolink:NamedThing	long QT syndrome 15	Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.	mondoexuq1wtf	CALM2 long QT syndrome|long QT syndrome caused by mutation in CALM2|LQT15|long QT syndrome type 15|long QT syndrome 15											UMLS:C4015695|ICD10:I45.8|OMIM:616249|DOID:0110656																		owl:Class
HGNC:1445	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015943	biolink:NamedThing	eosinophilic granulomatosis with polyangiitis	Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.	mondoexuq1wtf	granulomatous allergic Angiitides|Angiitides, allergic granulomatous|allergic Granulomatoses|allergic Angiitides|allergic angiitis, granulomatous|Angiitides, granulomatous allergic|vasculitis, Churg-Strauss|angiitis, granulomatous allergic|eosinophilic granulomatous vasculitis|allergic granulomatous Angiitides|granulomatous Vasculitides, eosinophilic|angiitis, allergic granulomatous|vasculitis, eosinophilic granulomatous|EGPA|granulomatosis, allergic|allergic granulomatous and angiitis|allergic angiitis|eosinophilic granulomatous Vasculitides|allergic granulomatous angiitis|allergic Angiitides, granulomatous|vasculitis, Churg Strauss|allergic granulomatosis|allergic angiitis and granulomatosis|granulomatous angiitis, allergic|Churg-Strauss syndrome|angiitis, allergic|Angiitides, allergic|granulomatous vasculitis, eosinophilic|syndrome, Churg-Strauss|granulomatous allergic angiitis|Granulomatoses, allergic|Churg Strauss syndrome|allergic granulomatosis angiitis|Vasculitides, eosinophilic granulomatous|granulomatous Angiitides, allergic|Churg-Strauss vasculitis											MedDRA:10048594|GARD:0006111|NCIT:C34481|SCTID:82275008|DOID:3049|Orphanet:183|ICD10:M30.1|EFO:0007208|UMLS:C0008728|GARD:0005776|MESH:D015267																		owl:Class
HP:0002099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032778	biolink:NamedThing	arthrogryposis multiplex congenita 3, myogenic type		mondoexuq1wtf	AMCM|arthrogryposis multiplex congenita, myogenic type											OMIM:618484																		owl:Class
HGNC:17089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005191	biolink:NamedThing	metastatic melanoma	A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	mondoexuq1wtf	metastatic melanoma|metastatic malignant melanoma											UMLS:C0278883|SCTID:443493003|NCIT:C8925|EFO:0002617																		owl:Class
MONDO:0024883	biolink:NamedThing	metastatic neoplasm	A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.	mondoexuq1wtf	metastatic disease|metastatic neoplasm|metastatic tumor					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						ICDO:8000/6|NCIT:C3261																		owl:Class
MONDO:0016831	biolink:NamedThing	linear verrucous nevus syndrome		mondoexuq1wtf	linear hamartoma syndrome											UMLS:CN202159|GARD:0003259|Orphanet:2611|ICD10:Q82.5																		owl:Class
MONDO:0012273	biolink:NamedThing	autosomal recessive nonsyndromic deafness 48	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in CIB2|autosomal recessive nonsyndromic deafness type 48|DFNB48|deafness, autosomal recessive type 48|deafness, autosomal recessive 48|autosomal recessive deafness 48|CIB2 autosomal recessive nonsyndromic deafness											OMIM:609439|ICD10:H90.3|UMLS:C1836199|MESH:C563720|DOID:0110505																		owl:Class
HGNC:24579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010478	biolink:NamedThing	SLC35A2-CDG	SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).	mondoexuq1wtf	epileptic encephalopathy, early infantile, 22|congenital disorder of glycosylation type IIm|CDG2M|epileptic encephalopathy, early infantile, 22; EIEE22|CDG syndrome type IIm|CDG IIm|congenital disorder of glycosylation type 2m|EIEE22|congenital disorder of glycosylation, type IIm|CDG-IIm											GARD:0012403|ICD10:E77.8|OMIM:300896|Orphanet:356961|UMLS:C3806688|DOID:0070265														https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg				owl:Class
HGNC:11022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:194924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019114	biolink:NamedThing	psychogenic movement disorders	Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.	mondoexuq1wtf	psychogenic dystonia											ICD10:F44.4|Orphanet:71519|MedDRA:10072376|UMLS:C3267131																		owl:Class
HGNC:3218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009806	biolink:NamedThing	Bruck syndrome 1	Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.	mondoexuq1wtf	Bruck syndrome 1|Bruck syndrome type 1|BRKS1|Kuskokwim disease|arthrogryposis-like disorder|Bruck syndrome caused by mutation in FKBP10|FKBP10 Bruck syndrome											OMIM:259450|UMLS:C1850168|GARD:0001029																		owl:Class
HGNC:18169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:42068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8140	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002227	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:496	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005888	biolink:NamedThing	ornithosis	Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.	mondoexuq1wtf	psittacosis											ICD10:A70|ICD9:073.9|NCIT:C34873|EFO:0007410|SCTID:75116005|UMLS:C0029291|ICD9:073|MESH:D009956|GARD:0007492|DOID:11262																		owl:Class
HP:0002090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014808	biolink:NamedThing	congenital secretory sodium diarrhea 8	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.	mondoexuq1wtf	diarrhea 8, secretory sodium, congenital|SLC9A3 secretory diarrhea|secretory diarrhea caused by mutation in SLC9A3|congenital secretory sodium diarrhea type 8|DIAR8|diarrhea, congenital sodium											ICD10:P78.3|UMLS:CN515063|DOID:0060777|OMIM:616868																		owl:Class
HGNC:11073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:59560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000953	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003452	biolink:NamedThing	cochlear disease	Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).	mondoexuq1wtf	cochlea disease or disorder|disorder of cochlea|cochlea disease|disease or disorder of cochlea|disease of cochlea											UMLS:C0009197|MESH:D015834|DOID:5463																		owl:Class
UBERON:0001844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29930	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010884	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024522	biolink:NamedThing	amyloidosis, primary localized cutaneous, 1	Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.	mondoexuq1wtf	lichen amyloidosis, familial|OSMR primary cutaneous amyloidosis|amyloidosis, primary cutaneous, 1|amyloidosis, primary localized cutaneous, 1|PLCA1|primary cutaneous amyloidosis caused by mutation in OSMR|PCA|amyloidosis 9|amyloidosis, primary localized cutaneous, type 1|amyloidosis, familial cutaneous lichen											OMIM:105250|UMLS:C0268398																		owl:Class
HGNC:8507	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009805	biolink:NamedThing	osteogenesis imperfecta type 9	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.	mondoexuq1wtf	osteogenesis imperfecta caused by mutation in PPIB|OI 9|PPIB osteogenesis imperfecta|osteogenesis imperfecta, type IX|osteogenesis imperfecta type IX|OI, type 9|OI9|osteogenesis imperfecta, type 9|osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|OI type IX											GARD:0010619|OMIM:259440|MESH:C564921|ICD10:Q78.0|DOID:0110349																		owl:Class
HGNC:9255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0042970	biolink:NamedThing	disorder of glutamate decarboxylase	A disease that has its basis in the disruption of glutamate decarboxylase activity.	mondoexuq1wtf	deficiency of glutamate decarboxylase|glutamate decarboxylase activity disease|glutamate decarboxylase deficiency|disorder of glutamate decarboxylase activity											GTR:AN0264281|ICD9:277.6|GARD:0002505|SCTID:124596009|UMLS:C1291560|MEDGEN:452941|GTR:AN0168165																		owl:Class
GO:0004351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014313	biolink:NamedThing	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity		mondoexuq1wtf	immunodeficiency 20|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|immunodeficiency type 20|CD16 deficiency|IMD20											OMIM:615707|Orphanet:437552|ICD10:D84.8|UMLS:C3810342																		owl:Class
HGNC:3619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011381	biolink:NamedThing	dominant beta-thalassemia	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.	mondoexuq1wtf	dyserythropoietic Anemia, congenital, Irish or Weatherall type|BETA-thalassemia, dominant inclusion body type|inclusion body beta-thalassemia											UMLS:C1858990|UMLS:C4274391|SCTID:716682000|Orphanet:231226|ICD10:D56.1|MESH:C565834|OMIM:603902																		owl:Class
HGNC:4827	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021128	biolink:NamedThing	has an isolated presentation	An characteristic of a disease in which the disease is manifested as an isolated feature.	mondoexuq1wtf																														owl:Class
UBERON:0001773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014956	biolink:NamedThing	Chitayat syndrome		mondoexuq1wtf	Chitayat syndrome|CHYTS|Chitayat syndrome; CHYTS											OMIM:617180|UMLS:C4310679																		owl:Class
HGNC:3444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C38328	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13398	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009329	biolink:NamedThing	pulmonary venoocclusive disease 2	A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.	mondoexuq1wtf	pulmonary capillary hemangiomatosis|pulmonary venoocclusive disease 2, autosomal recessive|familial pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|PVOD2					Editor note: check ORDO class - not clear if it intends to be the same as PVOD2						SCTID:233949008|GARD:0008527|UMLS:C0340548|OMIM:234810|Orphanet:199241|MESH:C535861|ICD10:D18.0|ICD9:416.8																		owl:Class
HGNC:19687	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010712	biolink:NamedThing	panhypopituitarism, X-linked		mondoexuq1wtf	PHPX|panhypopituitarism, X-linked|pituitary dwarfism IV|pituitary dwarfism IV, formerly|panhypopituitarism X-linked|pituitary dwarfism IV (formerly)											DOID:0111779|MESH:C538613|GARD:0006737|OMIM:312000|SCTID:237683004														https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked				owl:Class
HGNC:11199	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013823	biolink:NamedThing	autosomal dominant nonsyndromic deafness 4B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.	mondoexuq1wtf	deafness, autosomal dominant type 4B|autosomal dominant nonsyndromic deafness type 4B|autosomal dominant deafness 4B|deafness, autosomal dominant 4B|autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|CEACAM16 autosomal dominant nonsyndromic deafness|DFNA4B											OMIM:614614|DOID:0110574|ICD10:H90.3|UMLS:C3281297																		owl:Class
HGNC:31948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004615	biolink:NamedThing	upper gum cancer	A cancer involving a gingiva of upper jaw.	mondoexuq1wtf	malignant tumor of upper gingiva|gingiva of upper jaw cancer|malignant neoplasm of gingiva of upper jaw|cancer of gingiva of upper jaw|malignant tumour of upper gum|malignant gingiva of upper jaw neoplasm											DOID:8601|UMLS:C0153365|ICD10:C03.0|ICD9:143.0|SCTID:363383000																		owl:Class
UBERON:0011601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018211	biolink:NamedThing	Balint syndrome	Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.	mondoexuq1wtf	optic ataxia-gaze apraxia-simultanagnosia syndrome|psychic paralysis of visual fixation|Balint-Holmes syndrome					Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp.						SCTID:765212008|UMLS:C0270706|Orphanet:363746|ICD10:H51.8																		owl:Class
MONDO:0000678	biolink:NamedThing	simultanagnosia	An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.	mondoexuq1wtf												DOID:0060148|GARD:0011943														https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia				owl:Class
MONDO:0014885	biolink:NamedThing	Hermansky-Pudlak syndrome 10	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome type 10|HPS10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3D1|Hermansky-Pudlak syndrome 10											UMLS:C4310746|OMIM:617050																		owl:Class
HGNC:568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008705	biolink:NamedThing	lysosomal acid phosphatase deficiency		mondoexuq1wtf	lysosomal acid phosphatase deficiency|acid phosphatase deficiency											SCTID:57863006|ICD10:E83.3|ICD9:277.6|UMLS:C0268410|Orphanet:35121|OMIM:200950|MESH:C562645																		owl:Class
HGNC:123	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006223	biolink:NamedThing	gastric diffuse large B-cell lymphoma	An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.	mondoexuq1wtf	primary diffuse large B-cell lymphoma of stomach|primary diffuse large B-cell gastric lymphoma|primary gastric diffuse large B-cell lymphoma|primary diffuse large B-cell lymphoma of the stomach|gastric diffuse large B-cell lymphoma											EFO:1000270|UMLS:C1335483|NCIT:C5253																		owl:Class
UBERON:0000945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001697	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008215	biolink:NamedThing	adult-onset autosomal dominant demyelinating leukodystrophy	Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.	mondoexuq1wtf	ADLD|autosomal dominant adult-onset demyelinating leukodystrophy|multiple sclerosis-like disorder|adult-onset autosomal dominant demyelinating leukodystrophy|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|autosomal dominant leukodystrophy with autonomic disease|adult-onset autosomal dominant leukodystrophy|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease											SCTID:448054001|DOID:0060785|OMIM:169500|MESH:C566813|GARD:0010587|ICD10:E75.2|Orphanet:99027																		owl:Class
HGNC:6637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010210	biolink:NamedThing	xeroderma pigmentosum group A	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.	mondoexuq1wtf	xeroderma pigmentosum, complementation group A|XPA xeroderma pigmentosum|XP1|xeroderma pigmentosum 1|xeroderma pigmentosum complementation group A|XP group A|XPA|xeroderma pigmentosum, type 1|XP, group A|xeroderma pigmentosum group type A|xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum caused by mutation in XPA|XP-A											OMIM:278700|NCIT:C3965|Orphanet:276249|SCTID:43477006|DOID:0110843|UMLS:C0268135|GARD:0005624|ICD10:Q82.1																		owl:Class
HGNC:12814	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013446	biolink:NamedThing	Leber congenital amaurosis 6	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.	mondoexuq1wtf	Leber congenital amaurosis 6|LCA6|RPGRIP1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RPGRIP1|Leber congenital amaurosis type 6											MESH:C565327|DOID:0110329|HGNC:13436|OMIM:613826|GARD:0010490|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6				owl:Class
HGNC:13436	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012062	biolink:NamedThing	dilated cardiomyopathy 1O	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.	mondoexuq1wtf	cardiomyopathy, dilated, with ventricular tachycardia|cardiomyopathy, dilated, type 1O|ABCC9 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1O|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|dilated cardiomyopathy with ventricular tachycardia|CMD1O|dilated cardiomyopathy type 1O											ICD10:I42.0|OMIM:608569|MESH:C563906|UMLS:C1837839|DOID:0110451																		owl:Class
HGNC:60	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7711	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018583	biolink:NamedThing	human infection by orthopoxvirus		mondoexuq1wtf												UMLS:CN237612|ICD10:B08.0|Orphanet:438279																		owl:Class
MONDO:0013537	biolink:NamedThing	autosomal recessive nonsyndromic deafness 29	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.	mondoexuq1wtf	autosomal recessive deafness 29|deafness, autosomal recessive 29|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|deafness, autosomal recessive type 29|CLDN14 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 29|DFNB29											DOID:0110487|UMLS:C3279660|ICD10:H90.3|OMIM:614035																		owl:Class
HGNC:2035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012461	biolink:NamedThing	bulimia nervosa, susceptibility to, 2		mondoexuq1wtf	bulimia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, type 2|anorexia nervosa, susceptibility to, 2|moved to 607499 and 606788|BULN2|susceptibility to bulimia nervosa 2											OMIM:610269																		owl:Class
HGNC:1033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4421	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007808	biolink:NamedThing	ichthyosis hystrix of Curth-Macklin	Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).	mondoexuq1wtf	ichthyosis hystrix, Curth-Macklin type|IHCM|ichthyosis hystrix, Curth Macklin type|ichthyosis HYSTRIX, Curth-Macklin type|Curth-Macklin type ichthyosis hystrix											ICD9:757.39|UMLS:C1840296|ICD10:Q80.8|SCTID:254170001|OMIM:146590|GARD:0002954|MESH:C536088|Orphanet:79503																		owl:Class
HGNC:6412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012771	biolink:NamedThing	asthma-related traits, susceptibility to, 7	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.	mondoexuq1wtf	inherited susceptibility to asthma caused by mutation in CHI3L1|ASRT7|asthma-related traits, susceptibility to, 7|CHI3L1 inherited susceptibility to asthma|asthma-RELATED traits, susceptibility to, 7|asthma-related traits, susceptibility to, type 7											OMIM:611960																		owl:Class
HGNC:1932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044915	biolink:NamedThing	salivary duct carcinoma	An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.	mondoexuq1wtf	carcinoma of duct of salivary gland|high grade salivary duct carcinoma|carcinoma of the salivary duct|duct of salivary gland carcinoma|salivary duct carcinoma|carcinoma of salivary duct											UMLS:C1301194|ONCOTREE:SDCA|NCIT:C5904																		owl:Class
UBERON:0001837	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011874	biolink:NamedThing	neonatal ichthyosis-sclerosing cholangitis syndrome	Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	mondoexuq1wtf	neonatal ichthyosis-sclerosing cholangitis syndrome|ILVASC|IHSC|Ilvasc|NISCH syndrome|ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|Nisch syndrome											MESH:C564365|OMIM:607626|Orphanet:59303|GARD:0010583|SCTID:724278007|UMLS:C1843355																		owl:Class
HGNC:2032	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000890	biolink:NamedThing	Zika virus congenital syndrome	A congenital birth syndrome that arises from materal Zika infection.	mondoexuq1wtf	ZIKV congenital infection|congenital Zika syndrome|congenital Zika virus infection											DOID:0080180																		owl:Class
MONDO:0018661	biolink:NamedThing	Zika virus infectious disease	Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.	mondoexuq1wtf	Zika virus infection|Zika fever|Zika virus disease|fever, Zika|Zika|Zika virus infectious disease|ZikV infection|congenital Zika syndrome|congenital Zika virus infection|Zika virus caused disease or disorder|Zika virus disease or disorder											GARD:0012894|SCTID:3928002|UMLS:CN237724|ICD10:U06|ICD10:A92.8|DOID:0060478|UMLS:C0276289|ICD10:A92.5|Orphanet:448237|MESH:D000071243|NCIT:C128423																		owl:Class
MONDO:0019378	biolink:NamedThing	la Crosse encephalitis	La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.	mondoexuq1wtf	La Crosse virus caused infectious encephalitis|Neuroinvasive California encephalitis virus infection|La Crosse virus infectious encephalitis|California virus encephalitis|Californian encephalitis|California encephalitis											Orphanet:83483|UMLS:C0014053|GARD:0010925|DOID:0050118|MESH:D004670|MedDRA:10014584|UMLS:C0276379|ICD10:A83.5|ICD9:062.5|SCTID:61094002																		owl:Class
NCBITaxon:11577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008608	biolink:NamedThing	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	mondoexuq1wtf	Down syndrome chromosome region|trisomy 21 (Down syndrome)|Down syndrome critical region|transient myeloproliferative disorder of Down syndrome|leukemia, megakaryoblastic, of Down syndrome|complete trisomy 21 syndrome|Down's syndrome - trisomy 21|trisomy 21 syndrome|Down syndrome|Downs syndrome|trisomy 21|Down's syndrome|G trisomy					May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future						ICD9:758.0|ICD10:Q90.0|NCIT:C2993|ICD10:Q90.1|DOID:14250|ICD10:Q90|OMIM:190685|ICD10:Q90.2|MedDRA:10044688|ICD10:Q90.9|Orphanet:870|SCTID:41040004|GARD:0010247|EFO:0001064|UMLS:C0013080|NIFSTD:nlx_dys_20090502|MESH:D004314																		owl:Class
HP:0001249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011463	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014479	biolink:NamedThing	porokeratosis 8, disseminated superficial actinic type		mondoexuq1wtf	POROK8|porokeratosis 8, disseminated superficial actinic type											OMIM:616063|UMLS:C4015128																		owl:Class
HGNC:16192	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019723	biolink:NamedThing	disease of glomerular basement membrane		mondoexuq1wtf	basement membrane disease											UMLS:CN206630|Orphanet:93550																		owl:Class
GO:0005604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018493	biolink:NamedThing	malignant hyperthermia of anesthesia	Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.	mondoexuq1wtf	malignant hyperpyrexia|hyperthermia of anesthesia|anesthesia related hyperthermia|malignant hyperpyrexia due to anesthesia|malignant hyperthermia|malignant hyperthermia syndrome											HP:0002047|MESH:D008305|DOID:8545|SCTID:405501007|ICD9:995.86|NCIT:C84869|UMLS:C0024591|MedDRA:10020844|Orphanet:423|OMIMPS:145600|ICD10:T88.3																		owl:Class
HP:0002047	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009719	biolink:NamedThing	familial atrial myxoma		mondoexuq1wtf	MYXOMA, intracardiac|atrial Myxoma, familial|intracardiac myxoma											ICD10:D15.1|Orphanet:615|GARD:0000139|OMIM:255960|UMLS:C1850635|MESH:C538262|SCTID:233855002														https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial				owl:Class
HGNC:9388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015308	biolink:NamedThing	laminopathy type Decaudain-Vigouroux	Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.	mondoexuq1wtf	laminopathy with severe metabolic syndrome and myopathy											Orphanet:137871|ICD10:E88.8|SCTID:724205009|UMLS:C4518324																		owl:Class
HGNC:6267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014132	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 3	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.	mondoexuq1wtf	fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|IBA57 fatal multiple mitochondrial dysfunctions syndrome|IBA57 deficiency|multiple mitochondrial dysfunctions syndrome 3|multiple mitochondrial dysfunctions syndrome type 3|MMDS3											Orphanet:363424|UMLS:C3809165|ICD10:G31.8|OMIM:615330|DOID:0080135																		owl:Class
HGNC:27302	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001798	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012268	biolink:NamedThing	AIDS	A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.	mondoexuq1wtf	acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency disease|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome|acquired immune deficiency|acquired immune deficiency syndrome|AIDS											ICD10:B20|SCTID:62479008|MESH:D000163|NCIT:C2851|DOID:635|EFO:0000765																		owl:Class
CL:0000492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020730	biolink:NamedThing	carpal tunnel syndrome 1		mondoexuq1wtf	amyotrophy, thenar, of carpal origin|CTS|CTS1|carpal tunnel syndrome											OMIM:115430																		owl:Class
HGNC:12405	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0000627	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21642	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007309	biolink:NamedThing	Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy type 1A|HMSN1A|HMSN 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A|CMT1A|Charcot-Marie-Tooth neuropathy, type 1A|Charcot Marie Tooth disease type 1A|CMT 1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|microduplication 17p12|hereditary motor and sensory neuropathy 1A											OMIM:118220|UMLS:C0270911|ICD10:G60.0|Orphanet:101081|DOID:0110148|GARD:0001245|NCIT:C75468														https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a				owl:Class
HGNC:9118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014952	biolink:NamedThing	intellectual disability-epilepsy-extrapyramidal syndrome		mondoexuq1wtf	DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder											OMIM:617171|UMLS:C4310683|Orphanet:468620																		owl:Class
HGNC:14677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011562	biolink:NamedThing	autosomal dominant Parkinson disease 4	A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.	mondoexuq1wtf	PARK4|Parkinson disease 4, autosomal dominant|autosomal dominant Parkinson disease type 4|autosomal dominant Lewy body Parkinson disease 4|Parkinson disease 4, autosomal dominant Lewy body|autosomal dominant Parkinson's disease 4											MESH:C565324|OMIM:605543|ICD10:G20|UMLS:C1854182|DOID:0060895																		owl:Class
HGNC:11138	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024541	biolink:NamedThing	trichohepatoenteric syndrome 1	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.	mondoexuq1wtf	diarrhea, fatal infantile, with trichorrhexis nodosa|THES1|diarrhea, syndromic|The syndrome|TRICHOHEPATOENTERIC syndrome 1|TTC37 tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in TTC37											DOID:0111415|UMLS:CN034858|OMIM:222470																		owl:Class
HGNC:23639	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007103	biolink:NamedThing	amyotrophic lateral sclerosis type 1		mondoexuq1wtf	ALS1|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|FALS|amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis, familial|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis type 1|amyotrophic lateral sclerosis, sporadic, included|amyotrophic lateral sclerosis, sporadic|amyotrophic lateral sclerosis 1|amyotrophic lateral sclerosis 1, autosomal recessive											OMIM:105400|ICD10:G12.2|DOID:0060193|MESH:C531617																		owl:Class
HGNC:11179	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007609	biolink:NamedThing	fibromatosis, gingival, 1	Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.	mondoexuq1wtf	SOS1 gingival fibromatosis|GINGF1|fibromatosis, gingival, 1|GGF1|fibromatosis, gingival, hereditary|gingival fibromatosis, 1|fibromatosis, gingival, type 1|hereditary gingival fibromatosis caused by mutation in SOS1|fibromatosis gingival, hereditary, 1|GINGF|gingival fibromatosis caused by mutation in SOS1|HGF1|SOS1 hereditary gingival fibromatosis|hereditary gingival fibromatosis, 1											GARD:0006509|UMLS:CN030594|OMIM:135300														https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1				owl:Class
HGNC:11187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013048	biolink:NamedThing	hereditary spastic paraplegia 50	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in AP4M1|spastic paraplegia 50, autosomal recessive|cerebral palsy, spastic quadriplegic, 3|spastic quadriplegic cerebral palsy 3|SPG50|autosomal recessive spastic paraplegia 50|AP4M1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 3, formerly|hereditary spastic paraplegia type 50											MESH:C567858|DOID:0110802|UMLS:C2752008|OMIM:612936																		owl:Class
HGNC:574	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012990	biolink:NamedThing	Leber congenital amaurosis 13	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.	mondoexuq1wtf	Leber congenital amaurosis 13|Leber congenital amaurosis caused by mutation in RDH12|RDH12 Leber congenital amaurosis|Leber congenital amaurosis type 13|LCA13|retinitis pigmentosa 53											OMIM:612712|DOID:0110330|UMLS:C2675186|GARD:0010882|MESH:C567197|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13				owl:Class
HGNC:19977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005753	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014174	biolink:NamedThing	renal-hepatic-pancreatic dysplasia 2	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.	mondoexuq1wtf	RHPD2|renal-hepatic-pancreatic dysplasia 2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia type 2											UMLS:C3809434|OMIM:615415																		owl:Class
HGNC:13387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024531	biolink:NamedThing	myopathy, tubular aggregate, 1	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.	mondoexuq1wtf	tubular aggregate myopathy|STIM1 tubular aggregate myopathy|TAM1|myopathy, tubular aggregate|myopathy, tubular aggregate, 1|tubular aggregate myopathy caused by mutation in STIM1											OMIM:160565|UMLS:C4011726																		owl:Class
HGNC:11386	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100124	biolink:NamedThing	NAA10-related syndrome	NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.	mondoexuq1wtf	X-linked syndromic intellectual disability caused by mutation in NAA10|NAA10 X-linked syndromic intellectual disability|NAA10-related syndrome							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006972	biolink:NamedThing	silo filler disease	A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.	mondoexuq1wtf	silo-fillers' disease|silo filler disease|silo filler's disease											UMLS:C0037120|SCTID:61233003|MESH:D012832|EFO:1001182|DOID:4374																		owl:Class
ENVO:00003030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010137	biolink:NamedThing	thyroid dyshormonogenesis 5	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.	mondoexuq1wtf	DUOXA2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 5|hypothyroidism, congenital, due to dyshormonogenesis, 5|TDH5|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|thyroid dyshormonogenesis type 5|thyroid dyshormonogenesis 5											UMLS:C0342196|MESH:C562771|OMIM:274900|SCTID:63127008																		owl:Class
HGNC:32698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033135	biolink:NamedThing	Charcot-Marie-Tooth disease, demyelinating, type 1G	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	mondoexuq1wtf	CMT1G|Charcot-Marie-Tooth disease, demyelinating, type 1G|PMP2-related Charcot-Marie-Tooth disease type 1											Orphanet:476394|OMIM:618279|DOID:0111560																		owl:Class
HGNC:9117	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014937	biolink:NamedThing	aniridia 2		mondoexuq1wtf	aniridia 2|aniridia 2; AN2|AN2|aniridia type 2											MESH:C536372|OMIM:617141|SCTID:253232000																		owl:Class
HGNC:1171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001835	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012166	biolink:NamedThing	autosomal dominant sensory ataxia 1	Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.	mondoexuq1wtf	ataxia, sensory, 1, autosomal dominant|SNAX1|RNF170 hereditary ataxia|hereditary ataxia caused by mutation in RNF170|Adsa|ADSA											DOID:0111170|OMIM:608984|UMLS:C1837015																		owl:Class
HGNC:25358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006289	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002935	biolink:NamedThing	penis basal cell carcinoma	A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.	mondoexuq1wtf	basal cell carcinoma of the penis|skin of penis skin basal cell carcinoma|skin basal cell carcinoma of penis|penis skin basal cell carcinoma|penile basal cell carcinoma|penile basal cell cancer											UMLS:C1518949|NCIT:C39961|DOID:4277																		owl:Class
UBERON:0001331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014206	biolink:NamedThing	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency		mondoexuq1wtf	hereditary pulmonary alveolar proteinosis with hepatic involvement|PAP, Reunion island type|infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, Reunion island type|pulmonary alveolar proteinosis, Reunion Island|infantile liver failure syndrome 2|ILLD|interstitial lung and liver disease											UMLS:C3809651|ICD10:J84.0|Orphanet:440427|OMIM:615486																		owl:Class
HGNC:6898	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018324	biolink:NamedThing	adult-onset myasthenia gravis	Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.	mondoexuq1wtf	adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis											Orphanet:391490|ICD10:G70.0																		owl:Class
HP:0003581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017280	biolink:NamedThing	demodicidosis	Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.	mondoexuq1wtf	Demodex caused disease or disorder|Demodicosis|Demodex infectious disease|Demodex disease or disorder											ICD10:B88.0|UMLS:C3854478|GARD:0001802|Orphanet:283														https://rarediseases.info.nih.gov/diseases/1802/demodicidosis				owl:Class
NCBITaxon:188544	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23734	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018234	biolink:NamedThing	dysostosis	A disorder of the development of bone in which ossification is affected.	mondoexuq1wtf	dysostosis											ICD9:756.9|UMLS:C0013393|MESH:D004413|DOID:1934|SCTID:109420003|NCIT:C34560|Orphanet:364559																		owl:Class
HGNC:9475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006856	biolink:NamedThing	mesothelial neoplasm	A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003	mondoexuq1wtf	mesothelial tumor|mesothelial neoplasm											UMLS:C3714739|EFO:1001044|MESH:D018301|NCIT:C3786																		owl:Class
CL:0000222	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012963	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 3	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.	mondoexuq1wtf	ACE microvascular complications of diabetes, susceptibility|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 3|microvascular complications of diabetes, susceptibility caused by mutation in ACE|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 3|MVCD3											OMIM:612624																		owl:Class
HGNC:2707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011738	biolink:NamedThing	bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	mondoexuq1wtf	polymicrogyria, bilateral frontoparietal|cerebellar ataxia with neuronal migration defect|BFPP											Orphanet:101070|UMLS:C1847352|GARD:0010784|OMIM:606854|ICD10:Q04.3|NCIT:C148367|MESH:C564652														https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria				owl:Class
HGNC:4512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004117	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012277	biolink:NamedThing	myofibrillar myopathy 4	Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.	mondoexuq1wtf	myopathy, myofibrillar, 4|zaspopathy|myofibrillar myopathy (disease) caused by mutation in LDB3|myofibrillar myopathy type 4|MFM4|ZASP-related myofibrillar myopathy|myopathy, myofibrillar, type 4|LDB3 myofibrillar myopathy (disease)|late-onset distal myopathy, Markesbery-Griggs type											Orphanet:98912|ICD10:G71.8|UMLS:C1836155|GARD:0001886|DOID:0080095|OMIM:609452|MESH:C563718																		owl:Class
HGNC:15710	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013731	biolink:NamedThing	MEGF10-Related Myopathy		mondoexuq1wtf	A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant|EMARDD|early-onset myopathy, areflexia, respiratory distress and dysphagia|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset|MEGF10 Myopathy											OMIM:614399|DOID:0111333|UMLS:C3280679|GARD:0012199|ICD10:G71.2|Orphanet:439212																		owl:Class
HGNC:29634	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004619	biolink:NamedThing	measles	A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).	mondoexuq1wtf	Measles morbillivirus caused disease or disorder|Measles morbillivirus disease or disorder|rubeola|rubeola infection|Measles morbillivirus infectious disease|morbilli											DOID:8622|ICD9:055|NCIT:C96406|UMLS:C0025007|MESH:D008457|EFO:1002025|GARD:0003434|SCTID:14189004|ICD10:B05|ICD10:B05.9														https://rarediseases.info.nih.gov/diseases/3434/measles				owl:Class
NCBITaxon:11234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0002098	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008597	biolink:NamedThing	trichorhinophalangeal syndrome, type III	A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.	mondoexuq1wtf	trichorhinophalangeal syndrome, type 3|Sugio-Kajii syndrome|TRPS 3|trichorhinophalangeal syndrome type 3|TRPS3|trichorhinophalangeal syndrome, type III											GARD:0007802|UMLS:C1860823|DOID:0080376|OMIM:190351																		owl:Class
HGNC:12340	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000378	biolink:NamedThing	malignant Sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.	mondoexuq1wtf	Sertoli cell tumor, malignant|malignant Androblastoma											UMLS:C0334406|NCIT:C67006|ICDO:8630/3|DOID:0050617|ICDO:8640/3																		owl:Class
CL:0000216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014038	biolink:NamedThing	colorectal cancer, susceptibility to, 12	Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.	mondoexuq1wtf	colorectal cancer, susceptibility to, on chromosome 12Q24|colorectal cancer, susceptibility to, type 12|susceptibility to colorectal cancer 12|colorectal cancer caused by mutation in POLE|POLE colorectal cancer|CRCS12|colorectal cancer, susceptibility to, 12											OMIM:615083																		owl:Class
HGNC:9177	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:303	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010104	biolink:NamedThing	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	mondoexuq1wtf	teeth noneruption of with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|Stoelinga de Koomen Davis syndrome|non erupted teeth with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects											Orphanet:2972|SCTID:723442008|GARD:0005027|UMLS:C1848903|GARD:0005127|OMIM:273050																		owl:Class
MONDO:0005996	biolink:NamedThing	trichuriasis	An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.	mondoexuq1wtf	Trichuris trichiura infectious disease|trichocephaliasis|trichuriasis infection|Trichuris trichiura disease or disorder|Trichuris trichiura infection|whipworm disease|whipworm infection|infection by Trichuris trichura|Trichuris trichiura caused disease or disorder											DOID:1252|SCTID:3752003|MESH:D014257|COHD:196907|NCIT:C128399|UMLS:C0040954|EFO:0007524|GARD:0010720|ICD9:127.3|ICD10:B79														https://rarediseases.info.nih.gov/diseases/10720/trichuriasis				owl:Class
HP:0001880	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004593	biolink:NamedThing	Bartholin duct cyst	Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.	mondoexuq1wtf	cyst of Bartholin's gland|Bartholin's cyst|Bartholin's duct cyst|cyst of Bartholin's gland duct											ICD10:N75.0|UMLS:C0004767|COHD:259865|SCTID:57044006|ICD9:616.2|DOID:851																		owl:Class
UBERON:0000460	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013177	biolink:NamedThing	congenital muscular dystrophy due to integrin alpha-7 deficiency	Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.	mondoexuq1wtf	congenital muscular dystrophy with integrin alpha-7 deficiency|muscular dystrophy, congenital, due to ITGA7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|myopathy, congenital, due to integrin Alpha-7 deficiency|ITGA7 congenital muscular dystrophy|muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|congenital muscular dystrophy caused by mutation in ITGA7											UMLS:C2750786|OMIM:613204|DOID:0110639|GARD:0012587|Orphanet:34520|MESH:C567709|ICD10:G71.2																		owl:Class
HGNC:6143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005195	biolink:NamedThing	septic peritonitis	Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.	mondoexuq1wtf												PMID:22911262|EFO:0002623|Wikipedia:Septic_peritonitis																		owl:Class
HP:0100806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014870	biolink:NamedThing	NEK9-related lethal skeletal dysplasia	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	mondoexuq1wtf	lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome|lethal congenital contracture syndrome type 10|LCCS10|lethal congenital contracture syndrome 10											Orphanet:464366|OMIM:617022|UMLS:C4310760|ICD10:Q77.2																		owl:Class
HGNC:18591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017686	biolink:NamedThing	inborn aminoacylase deficiency	An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity.	mondoexuq1wtf	rare inborn error of aminoacylase activity|inborn aminoacylase activity disorder|inborn error of aminoacylase activity|aminoacylase deficiency											Orphanet:308448																		owl:Class
GO:0004046	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044746	biolink:NamedThing	zoonotic bacterial infection	A bacterial infection that is transmitted from animals to people.	mondoexuq1wtf	Bacteria caused zoonoses|zoonotic bacterial disease|Bacteria zoonoses|zoonotic bacterial infection											UMLS:C0311376|NCIT:C35373																		owl:Class
NCBITaxon:2	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012482	biolink:NamedThing	West Nile virus, susceptibility to		mondoexuq1wtf	WNV, susceptibility to|West Nile virus, susceptibility to											OMIM:610379																		owl:Class
HGNC:1606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012442	biolink:NamedThing	autosomal recessive nonsyndromic deafness 66	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.	mondoexuq1wtf	DCDC2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 66|deafness, autosomal recessive type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|autosomal recessive nonsyndromic deafness type 66|DFNB66|deafness, autosomal recessive 66											DOID:0110517|OMIM:610212|ICD10:H90.3|UMLS:C1857750|MESH:C565701																		owl:Class
HGNC:18141	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10809	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012071	biolink:NamedThing	congenital generalized lipodystrophy type 1	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.	mondoexuq1wtf	Berardinelli-Seip congenital lipodystrophy, type 1|BSCL1|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|Brunzell syndrome, Agpat2-related|lipodystrophy, Berardinelli-Seip congenital, type 1|AGPAT2-related Brunzell syndrome|lipodystrophy, congenital generalized, type 1|CGL1|Brunzell syndrome AGPAT2-related|Berardinelli-Seip congenital lipodystrophy type 1|AGPAT2 congenital generalized lipodystrophy (disease)											OMIM:608594|DOID:0111135|GARD:0000084|ICD10:E88.1																		owl:Class
HGNC:325	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014776	biolink:NamedThing	spinocerebellar ataxia type 42		mondoexuq1wtf	spinocerebellar ataxia 42|SCA42|spinocerebellar ataxia type 42											NCIT:C171269|Orphanet:458803|DOID:0111742|UMLS:C4225205|EFO:0009059|ICD10:G11.8|OMIM:616795																		owl:Class
HGNC:1394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26222	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019725	biolink:NamedThing	pediatric systemic lupus erythematosus		mondoexuq1wtf	SLE, pediatric onset											ICD10:M32.0|ICD10:M32.9|Orphanet:93552|ICD10:M32.8|ICD10:M32.1																		owl:Class
UBERON:0000029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014505	biolink:NamedThing	developmental and epileptic encephalopathy, 27	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.	mondoexuq1wtf	DEE27|early infantile epileptic encephalopathy caused by mutation in GRIN2B|epileptic encephalopathy, early infantile, type 27|epileptic encephalopathy, early infantile, 27|GRIN2B early infantile epileptic encephalopathy|EIEE27											DOID:0080444|UMLS:C4015316|OMIM:616139																		owl:Class
HGNC:4586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000273	biolink:NamedThing	Kunjin virus infectous disease		mondoexuq1wtf	Kunjin encephalitis											DOID:0050174																		owl:Class
NCBITaxon:11077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054833	biolink:NamedThing	charcot-marie-tooth disease, axonal, type 2DD		mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD|Charcot-Marie-tooth disease, axonal, type 2DD											Orphanet:521414|OMIM:618036|UMLS:CN248781|DOID:0111558																		owl:Class
HGNC:799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005968	biolink:NamedThing	sporotrichosis	The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.	mondoexuq1wtf	rose gardener's disease											ICD10:B42.0|ICD10:B42.7|SCTID:42094007|ICD10:B42.8|MESH:D013174|ICD10:B42.9|DOID:14484|EFO:0007494|Orphanet:826|UMLS:C0038034|ICD9:117.1|ICD10:B42|GARD:0007692|ICD10:B42.1|MedDRA:10041736|COHD:434859														https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis				owl:Class
NCBITaxon:29908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012885	biolink:NamedThing	SRD5A3-CDG	SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.	mondoexuq1wtf	congenital disorder of glycosylation, type Iq|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|CDGIq|congenital disorder of glycosylation type Iq|CDG syndrome type Iq|SRD5A3-CDG (CDG-Iq)|CDG Iq|CDG-Iq|congenital disorder of glycosylation type 1q|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG1Q											SCTID:733601006|UMLS:C3150191|UMLS:C4317224|DOID:0080568|GARD:0012397|OMIM:612379|ICD10:E77.8|Orphanet:324737																		owl:Class
HGNC:25812	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005352	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016453	biolink:NamedThing	foodborne botulism	Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.	mondoexuq1wtf	intoxication botulism											Orphanet:228371|ICD10:A05.1|DOID:0050352|NCIT:C128341|ICD9:005.1|SCTID:398523009|COHD:443444|UMLS:C1739094																		owl:Class
HP:0001260	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014045	biolink:NamedThing	Cowden syndrome 3	Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.	mondoexuq1wtf	Cowden disease caused by mutation in SDHD|CWS3|Cowden syndrome type 3|SDHD Cowden disease|Cowden syndrome 3											UMLS:C3554516|OMIM:615106																		owl:Class
HGNC:10683	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024878	biolink:NamedThing	secondary carcinoma	A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.	mondoexuq1wtf	secondary carcinoma					Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.						UMLS:C0085668|NCIT:C36310																		owl:Class
MONDO:0013123	biolink:NamedThing	atrial septal defect 6	Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.	mondoexuq1wtf	atrial septal defect type 6|atrial heart septal defect caused by mutation in TLL1|atrial septal defect 6|atrial heart septal defect type 6|TLL1 atrial heart septal defect|ASD6											OMIM:613087|ICD10:Q21.1|MESH:C567764|UMLS:C2751315|DOID:0110111																		owl:Class
HGNC:11843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012154	biolink:NamedThing	myopia 6	Any myopia in which the cause of the disease is a mutation in the SCO2 gene.	mondoexuq1wtf	myopia, susceptibility to|myopia type 6|SCO2 myopia (disease)|myopia (disease) caused by mutation in SCO2|myopia 6|MYP6											GARD:0009937|MESH:C536105|OMIM:608908														https://rarediseases.info.nih.gov/diseases/9937/myopia-6				owl:Class
MONDO:0008547	biolink:NamedThing	thanatophoric dysplasia type 2	Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.	mondoexuq1wtf	thanatophoric dysplasia, type 2|thanatophoric dwarfism type 2|thanatophoric dysplasia with Kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|thanatophoric dysplasia type II|TD2|cloverleaf skull with thanatophoric dwarfism|type 2 thanatophoric dysplasia|thanatophoric dwarfism-cloverleaf skull syndrome|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia, type II											GARD:0001402|OMIM:187601|Orphanet:93274|UMLS:CN206542|ICD10:Q77.1|ICD9:742.59|SCTID:389158007|NCIT:C98584|UMLS:C1300257|MESH:C536508														https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2				owl:Class
HGNC:3690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013478	biolink:NamedThing	PLIN1-related familial partial lipodystrophy		mondoexuq1wtf	PLIN1-related FPLD|FPLD due to PLIN1 mutations|familial partial lipodystrophy type 4|lipodystrophy, familial partial, associated with Plin1 mutations|lipodystrophy, familial partial, type 4|familial partial lipodystrophy associated with PLIN1 mutations|FPLD4											UMLS:C3151268|GARD:0012601|DOID:0070205|Orphanet:280356|OMIM:613877|ICD10:E88.1																		owl:Class
HGNC:9076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007845	biolink:NamedThing	Kaposi sarcoma, susceptibility to		mondoexuq1wtf	multicentric Castleman disease, susceptibility to|multiple idiopathic pigmented hemangiosarcoma, susceptibility to|susceptibility to Kaposi sarcoma|Kaposi sarcoma, susceptibility to											OMIM:148000																		owl:Class
HGNC:903	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013594	biolink:NamedThing	spinocerebellar ataxia type 36	Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.	mondoexuq1wtf	spinocerebellar ataxia 36|Asidan|SCA36|spinocerebellar ataxia type 36											UMLS:C3472711|SCTID:711158005|ICD10:G11.8|OMIM:614153|DOID:0050983|NCIT:C148316|GARD:0012367|Orphanet:276198																		owl:Class
HGNC:15911	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011929	biolink:NamedThing	chromosome 1p36 deletion syndrome	A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.	mondoexuq1wtf	monosomy 1p36|monosomy 1pter|chromosome 1p36 deletion syndrome|deletion 1p36|1p Telomere Deletion syndrome|1p36 deletion syndrome|monosomy 1P36 syndrome|subtelomeric 1p36 deletion|Del(1)(p36)|deletion 1pter											Orphanet:1606|ICD9:758.39|NCIT:C74983|MESH:C535362|OMIM:607872|UMLS:C1842870|DOID:0060410|SCTID:699306003|GARD:0006082|ICD10:Q93.5														https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome				owl:Class
HP:0001644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010848	biolink:NamedThing	spinocerebellar ataxia type 5	Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.	mondoexuq1wtf	SCA5|spinocerebellar ataxia 5|spinocerebellar ataxia type 5											DOID:0050882|SCTID:719302009|Orphanet:98766|ICD10:G11.2|OMIM:600224|GARD:0004953|UMLS:C0752123																		owl:Class
HGNC:11276	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004329	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.	mondoexuq1wtf	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia											ICDO:8453/2|UMLS:C1518873|NCIT:C41251|DOID:7685																		owl:Class
PATO:0002132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018903	biolink:NamedThing	sarcocystosis	Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.	mondoexuq1wtf	sarcosporidiosis											SCTID:88905005|UMLS:C0036231|MedDRA:10039483|ICD10:A07.8|ICD9:136.5|MESH:D012523|EFO:0007476|Orphanet:54368|DOID:9640																		owl:Class
HP:0002716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3642	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011894	biolink:NamedThing	Charcot-Marie-Tooth disease type 2E	Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy type 2E|Charcot Marie Tooth disease type 2E|CMT2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|NEFL Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2E|CMT 2E|Charcot-Marie-Tooth neuropathy, type 2E|Charcot-Marie-Tooth disease, axonal, type 2E											MESH:C537994|NCIT:C134953|SCTID:717012004|ICD10:G60.0|GARD:0009193|OMIM:607684|DOID:0110165|Orphanet:99939														https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e				owl:Class
HGNC:7739	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030906	biolink:NamedThing	Trichomonas tenax infectious disease	An disease or disorder caused by infection with Trichomonas tenax.	mondoexuq1wtf	Trichomonas tenax trichomoniasis|Trichomonas tenax disease or disorder|Trichomonas tenax caused disease or disorder											DOID:0050270																		owl:Class
NCBITaxon:43075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001444	biolink:NamedThing	Chagas disease	A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.	mondoexuq1wtf	Chagas' disease|Chagas disease|American trypanosomiasis|infection caused by trypanosoma cruzi|Trypanosoma cruzi infectious disease|infection by trypanosoma cruzi|south American trypanosomiasis|Chagas' disease with other organ involvement|Chagas' disease with digestive system involvement|Chagas' disease with nervous system involvement|Trypanosoma cruzi disease or disorder|Trypanosoma cruzi caused disease or disorder|Chagas-mazza disease											UMLS:C0348781|ICD9:086.2|ICD10:B57.3|MESH:D014355|DOID:12140|SCTID:77506005|Orphanet:3386|UMLS:C0041234|ICD10:B57.1|UMLS:C0153125|UMLS:C0348782|ICD10:B57.0|NCIT:C84629|MedDRA:10001935|ICD10:B57|ICD10:B57.2|EFO:0008559|KEGG:05142|ICD10:B57.5|ICD10:B57.4																		owl:Class
GO:0006954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014401	biolink:NamedThing	tall stature-scoliosis-macrodactyly of the great toes syndrome	Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.	mondoexuq1wtf	Miura type epiphyseal chondrodysplasia|ECDM|tall stature-scoliosis-macrodactyly of the halluces syndrome|epiphyseal chondrodysplasia, MIURA type											DOID:0070316|OMIM:615923|Orphanet:329191|UMLS:C4014690																		owl:Class
HGNC:7944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001423	biolink:NamedThing	drug-induced mental disorder		mondoexuq1wtf												DOID:1203|ICD9:292.8|ICD9:292.89																		owl:Class
NCBITaxon:168	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011159	biolink:NamedThing	autosomal dominant nonsyndromic deafness 13	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	mondoexuq1wtf	COL11A2 autosomal dominant nonsyndromic deafness|DFNA13|deafness, autosomal dominant type 13|autosomal dominant nonsyndromic deafness type 13|deafness, autosomal dominant 13|autosomal dominant deafness 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2											DOID:0110545|MESH:C566612|ICD10:H90.3|OMIM:601868|UMLS:C1866095																		owl:Class
HGNC:2187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009706	biolink:NamedThing	hereditary myopathy with lactic acidosis due to ISCU deficiency	Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.	mondoexuq1wtf	myopathy with exercise intolerance, Swedish type|HML|ISCU myopathy|aconitase deficiency|myopathy with deficiency of succinate dehydrogenase and aconitase|iron-sulfur cluster deficiency myopathy|myoglobinuria due to abnormal glycolysis|myopathy with lactic acidosis, hereditary											Orphanet:43115|MESH:C564972|ICD10:G71.3|ICD9:259.8|SCTID:699268002|UMLS:C1850718|OMIM:255125																		owl:Class
HGNC:29882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:131567	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008224	biolink:NamedThing	hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.	mondoexuq1wtf	hyperkalemic PP|normokalemic periodic paralysis, potassium-sensitive|familial hyperkalemic periodic paralysis (disorder) [ambiguous]|sodium channel muscle disease|Gamstorp episodic adynamy|Gamstorp disease|hyperPP|adynamia episodica hereditaria|familial hyperkalemic periodic paralysis|primary hyperkalemic periodic paralysis|familial hyperPP|primary hyperPP|HYPP|hyperkalemic periodic paralysis|hyperKPP|adynamia episodica hereditaria with or without myotonia											MESH:D020513|NCIT:C123429|ICD10:G72.3|OMIM:170500|GARD:0000195|UMLS:CN074266|Orphanet:682|SCTID:304737009|UMLS:C0238357|DOID:14451																		owl:Class
HGNC:10591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070293	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023554	biolink:NamedThing	acquired testicular failure	Testicular failure, the cause of which is not present at birth.	mondoexuq1wtf	Acquired Testicular Failure|Acquired testicular failure|acquired testicular failure											UMLS:C0403818|SCTID:236811002|NCIT:C131091																		owl:Class
HP:0008669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:727	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100091	biolink:NamedThing	inherited pseudoxanthoma elasticum	An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.	mondoexuq1wtf	inherited Gronblad Strandberg syndrome|inherited PXE					Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues						GARD:0009643														https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum				owl:Class
HGNC:57	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015658	biolink:NamedThing	cerebral diseases of vascular origin with epilepsy		mondoexuq1wtf												UMLS:CN200067|Orphanet:166487																		owl:Class
MONDO:0024570	biolink:NamedThing	hyperparathyroidism 4	Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.	mondoexuq1wtf	familial isolated hyperparathyroidism caused by mutation in GCM2|HRPT4|hyperparathyroidism type 4|hyperparathyroidism 4|GCM2 familial isolated hyperparathyroidism											OMIM:617343|UMLS:CN240514|UMLS:C4479229																		owl:Class
HGNC:4198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000875	biolink:NamedThing	adult acute monocytic leukemia	A acute monocytic leukemia that occurs in an adult.	mondoexuq1wtf	M5b adult acute differentiated monocytic leukemia|adult acute differentiated monocytic leukemia (M5b)|acute monocytic leukemia of adults|M5b adult acute leukemia|acute monocytic leukemia|adult acute monocytic leukemia											DOID:0080149|NCIT:C8263|UMLS:C0280634																		owl:Class
MONDO:0005857	biolink:NamedThing	morbillivirus infectious disease	Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.	mondoexuq1wtf	Morbillivirus disease or disorder|Morbillivirus caused disease or disorder|Morbillivirus infectious disease											UMLS:C0206614|EFO:0007377|MESH:D018185																		owl:Class
NCBITaxon:11229	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014415	biolink:NamedThing	kallikrein, decreased urinary activity of		mondoexuq1wtf	kallikrein, decreased urinary activity of											MESH:C563653|OMIM:615953																		owl:Class
HGNC:6357	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000914	biolink:NamedThing	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.	mondoexuq1wtf	CADASIL1|dementia, hereditary multi-infarct type|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|CADASIL|CADASIL type 1|CADASIL 1|hereditary multi-infarct dementia|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|familial vascular leukoencephalopathy|CADASIL syndrome|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|CASIL											NCIT:C84606|MESH:D046589|SCTID:390936003|DOID:0111035|ICD10:F01.1|UMLS:C0751587|Orphanet:136|GARD:0001049|OMIM:125310|MedDRA:10065551																		owl:Class
HGNC:7883	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019973	biolink:NamedThing	persistent placoid maculopathy	Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.	mondoexuq1wtf												SCTID:719297006|Orphanet:97341|UMLS:C4304823																		owl:Class
HP:0030852	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007739	biolink:NamedThing	Huntington disease	Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.	mondoexuq1wtf	HD|Huntington's disease|Huntington's chorea|Huntington chorea|Huntington disease											KEGG:05016|SCTID:58756001|UMLS:C0020179|ICD10:G10|MedDRA:10070668|Orphanet:399|DOID:12858|NCIT:C82342|ICD9:333.4|COHD:374341|GARD:0006677|OMIM:143100																		owl:Class
UBERON:0002018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013720	biolink:NamedThing	complement component 4b deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.	mondoexuq1wtf	C4B classic complement early component deficiency|classic complement early component deficiency caused by mutation in C4B|C4BD|C4B deficiency|complement component 4B deficiency|complement component 4b deficiency											DOID:0060298|UMLS:C3280641|ICD10:D84.1|OMIM:614379																		owl:Class
HGNC:1324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004557	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014966	biolink:NamedThing	periventricular nodular heterotopia 7	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.	mondoexuq1wtf	periventricular nodular heterotopia type 7|PVNH7|periventricular nodular heterotopia 7; PVNH7|NEDD4L periventricular nodular heterotopia|periventricular nodular heterotopia caused by mutation in NEDD4L|periventricular nodular heterotopia 7											OMIM:617201|UMLS:C4310669																		owl:Class
HGNC:7728	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018083	biolink:NamedThing	transient tyrosinemia of the newborn	Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.	mondoexuq1wtf	tyrosine-oxidase temporary deficiency|transient neonatal tyrosinemia|transient tyrosinemia of the neonate											Orphanet:3402|GARD:0005388|UMLS:CN204402|ICD10:P74.5																		owl:Class
HP:0025153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012494	biolink:NamedThing	testicular microlithiasis		mondoexuq1wtf	testicular microlithiasis|testicular microlithiasis (disease)		testicular microlithiasis (disease)									HP:0012215|MESH:C566478|OMIM:610441|UMLS:C1864873																		owl:Class
HGNC:11020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005904	biolink:NamedThing	pericarditis	An inflammatory process affecting the pericardium.	mondoexuq1wtf	pericardium inflammation|pericarditis|pericarditis (disease)|inflammation of pericardium		pericarditis (disease)									DOID:1787|UMLS:C0031046|SCTID:3238004|MESH:D010493|EFO:0007427|HP:0001701|NCIT:C34915																		owl:Class
UBERON:0002407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000302	biolink:NamedThing	basidiobolomycosis	A disease caused by infection with Basidiobolus.	mondoexuq1wtf	infection caused by Basidiobolus|infection by Basidiobolus|Basidiobolus disease or disorder|Basidiobolus caused disease or disorder|Basidiobolus infectious disease|basidiobolomycosis											UMLS:C0343965|MEDGEN:575966|SCTID:4921002|DOID:0050278																		owl:Class
NCBITaxon:4859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014042	biolink:NamedThing	left ventricular noncompaction 7	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.	mondoexuq1wtf	MIB1 left ventricular noncompaction|left ventricular noncompaction 7|left ventricular noncompaction type 7|LVNC7|left ventricular noncompaction caused by mutation in MIB1											OMIM:615092|UMLS:C3554496																		owl:Class
HGNC:21086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006058	biolink:NamedThing	Wilms tumor	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	mondoexuq1wtf	Wilms' tumor|Wilms tumor (nephroblastoma)|Wilms tumor											UMLS:CN244940|MESH:D009396|EFO:1000056|GARD:0007892|NCIT:C3267																		owl:Class
CL:0000354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011405	biolink:NamedThing	poikiloderma with neutropenia	A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.	mondoexuq1wtf	poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia|Clericuzio type poikiloderma with neutropenia|poikiloderma with neutropenia Clericuzio type|poikiloderma with neutropenia, Clericuzio type|PN											ICD10:D82.8|DOID:0060551|Orphanet:221046|GARD:0004085|OMIM:604173																		owl:Class
MONDO:0011132	biolink:NamedThing	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.	mondoexuq1wtf	FOXN1 deficiency|winged helix deficiency|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|Pignata Guarino syndrome|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|alopecia immunodeficiency|alymphoid cystic thymic dysgenesis|T-cell immunodeficiency, congenital alopecia and nail dystrophy											SCTID:720345008|ICD10:D82.8|UMLS:C1866426|MESH:C536781|OMIM:601705|DOID:0060769|GARD:0004358|Orphanet:169095														https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy				owl:Class
HGNC:12765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:428	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0042370	biolink:NamedThing	Yersinia enterocolitica infectious disease		mondoexuq1wtf	infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica											SCTID:80960004																		owl:Class
NCBITaxon:630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010964	biolink:NamedThing	epiphyseal dysplasia, multiple, 3	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.	mondoexuq1wtf	epiphyseal dysplasia multiple 3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, type 3|EDM3|epiphyseal dysplasia, multiple, 3|epiphyseal dysplasia, multiple, 3, with myopathy|multiple epiphyseal dysplasia 3|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3											GARD:0009792|OMIM:600969|UMLS:C1832998|MESH:C535503|DOID:0070304														https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3				owl:Class
HGNC:2219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024313	biolink:NamedThing	staphylococcal infection	An infection caused by Staphylococcus.	mondoexuq1wtf	staphylococcal infection											SCTID:56038003|NCIT:C35038|MESH:D013203																		owl:Class
NCBITaxon:1279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011714	biolink:NamedThing	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome		mondoexuq1wtf	lipodystrophy, partial, with congenital cataracts and neurodegeneration|LCCNS|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome											UMLS:C3807567|OMIM:606721																		owl:Class
HGNC:1527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008765	biolink:NamedThing	Leber congenital amaurosis 2	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.	mondoexuq1wtf	amaurosis congenita of Leber II|amaurosis congenita of Leber 2|Leber congenital amaurosis type 2|Leber congenital amaurosis 2|LCA2|Leber congenital amaurosis caused by mutation in RPE65|RPE65 Leber congenital amaurosis|amaurosis congenita of Leber, type 2											UMLS:C1859844|OMIM:204100|ICD10:H35.5|DOID:0110016|MESH:C536601|GARD:0000636														https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2				owl:Class
HGNC:10294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012891	biolink:NamedThing	pontocerebellar hypoplasia type 2C	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.	mondoexuq1wtf	pontocerebellar hypoplasia, type 2C|PCH2C|TSEN34 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34											UMLS:C2676465|MESH:C567324|DOID:0060269|OMIM:612390																		owl:Class
HGNC:15506	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011437	biolink:NamedThing	microcephaly 4, primary, autosomal recessive		mondoexuq1wtf	MCPH4|microcephaly 4, primary, autosomal recessive											MESH:C565792|OMIM:604321|DOID:0070291|UMLS:C1858516																		owl:Class
HGNC:24054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007918	biolink:NamedThing	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.	mondoexuq1wtf	lymphedema, microcephaly, chorioretinopathy syndrome|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, lymphedema, chorioretinal dysplasia syndrome|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|lymphedema and retinal folds with ficrocephaly and microphthalmos|microcephaly lymphedema chorioretinal dysplasia|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|MLCRD|MCLMR|chorioretinal dysplasia-microcephaly-mental retardation syndrome|Mlcrd syndrome|lymphedema and retinal Folds with microcephaly and microphthalmos|lymphedema, microcephaly and chorioretinopathy syndrome|microcephaly-lymphedema-chorioretinopathy syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|Cdmmr syndrome											MESH:C537711|Orphanet:2526|ICD10:Q87.8|GARD:0003622|OMIM:152950|UMLS:C1835265|DOID:0060349																		owl:Class
HGNC:6388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016706	biolink:NamedThing	chordoid glioma of the third ventricle	A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.	mondoexuq1wtf	chordoid glioma|chordoid glioma of third ventricle|third ventricle chordoid glioma|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of the 3rd ventricle|chordoid glioma of the third ventricle|chordoid glioma (morphologic abnormality)|chordoid glioma of 3rd ventricle										MONDO:0002773	DOID:3774|SCTID:715900001|ICDO:9444/1|GARD:0010636|NCIT:C5592|DOID:3773|Orphanet:251674|ONCOTREE:CHGL|ICD10:C71.9|UMLS:C1322252														https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle				owl:Class
UBERON:0002286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009448	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012436	biolink:NamedThing	neonatal diabetes mellitus with congenital hypothyroidism	A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others	mondoexuq1wtf	diabetes mellitus, neonatal, with congenital hypothyroidism|NDH|Ndh syndrome|NDH syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome											OMIM:610199|DOID:0060638|MESH:C565705|UMLS:C1857775|Orphanet:79118																		owl:Class
HGNC:28510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011215	biolink:NamedThing	osteocraniostenosis	Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.	mondoexuq1wtf	osteocraniostenosis|Habrodysplasia|GCLEB|skeletal dysplasia lethal with gracile bones|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|Osteocraniosplenic syndrome											OMIM:602361|ICD10:Q78.0|Orphanet:2763|UMLS:C1865639|SCTID:722109008|GARD:0003396|MESH:C537291																		owl:Class
HGNC:24725	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3436	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011675	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011919	biolink:NamedThing	autoimmune disease, susceptibility to, 1	Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.	mondoexuq1wtf	susceptibility to autoimmune disease 1|vitiligo-associated multiple autoimmune disease susceptibility 2|autoimmune disease caused by mutation in FOXD3|AIS1|autoimmune disease susceptibility locus, chromosome 1P-related|autoimmune disease, susceptibility to, 1|autoimmune disease, susceptibility to, type 1|FOXD3 autoimmune disease											OMIM:607836																		owl:Class
HGNC:3804	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:63417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009234	biolink:NamedThing	congenital high-molecular-weight kininogen deficiency	A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.	mondoexuq1wtf	kininogen deficiency, high molecular weight and Low molecular weight|kininogen deficiency, high molecular weight|Flaujeac factor deficiency|Flaujeac trait|Williams trait, included|kininogen deficiency, high molecular weight and LOW molecular weight, included|Williams trait|HMWK deficiency|Fitzgerald trait kininogen deficiency, total, included|Flaujeac trait, included|high-molecular-weight kininogen deficiency, congenital|Fitzgerald trait|kininogen deficiency, total|HMWK|Hmwk deficiency|high molecular weight kininogen deficiency											GARD:0002684|ICD9:286.9|Orphanet:483|SCTID:27312002|DOID:0111676|OMIM:228960|NCIT:C98946|ICD10:D68.8|MESH:C537060														https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency				owl:Class
HGNC:6383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010152	biolink:NamedThing	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	mondoexuq1wtf	trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|eyelashes, long with intellectual disability|long eyelashes-intellectual disability syndrome|OMCS|Oliver-McFarlane syndrome|Oliver McFarlane syndrome|eyelashes, long, with intellectual disability|eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina											SCTID:719944006|MESH:C536554|OMIM:275400|Orphanet:3363|UMLS:C1848745|GARD:0005266|DOID:0111271																		owl:Class
HGNC:16268	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014433	biolink:NamedThing	Bardet-Biedl syndrome 4		mondoexuq1wtf	Bardet-Biedl syndrome type 4|BBS4|Bardet-Biedl syndrome 4											MESH:C537912|ICD10:Q87.89|UMLS:C2936864|OMIM:615982|GARD:0000823|DOID:0110126|EFO:0009024														https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4				owl:Class
HGNC:969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014846	biolink:NamedThing	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency		mondoexuq1wtf	SCAR23|spinocerebellar ataxia autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive 23											OMIM:616949|ICD10:G11.1|UMLS:C4310780|DOID:0111613|Orphanet:404493																		owl:Class
HGNC:17768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21034	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013547	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.	mondoexuq1wtf	mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type|MC5DN3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency											UMLS:C3279708|OMIM:614053|DOID:0060332|ICD10:E88.8																		owl:Class
HGNC:838	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012295	biolink:NamedThing	complement component 5 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.	mondoexuq1wtf	C5D|C5 deficiency|complement deficiency caused by mutation in C5|C5 complement deficiency|complement component 5 deficiency|dysfunction of the fifth component of complement (C5)											GARD:0006878|DOID:8158|NCIT:C9469|OMIM:609536|UMLS:C0343047																		owl:Class
HGNC:1331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007447	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010160	biolink:NamedThing	tyrosinemia type II	Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	mondoexuq1wtf	tyrosine transaminase deficiency|tyrosinemia due to tyrosine aminotransferase deficiency|Tyrosinosis oculocutaneous type|Richner-Hanhart syndrome|keratosis palmoplantaris-corneal dystrophy syndrome|Tyrosinosis, oculocutaneous type|Richner Hanhart syndrome|tyrosinemia, type 2|tyrosinemia type 2|Oregon type tyrosinemia|oculocutaneous tyrosinemia|keratosis palmoplantaris with corneal dystrophy|tyrosinemia type II|tyrosine aminotransferase deficiency|tyrosinemia, type II|Tat deficiency|TYRSN2|tyrosinemia due to TAT deficiency											Orphanet:28378|ICD10:E70.2|DOID:0050725|MedDRA:10069463|SCTID:4887000|NCIT:C129032|OMIM:276600|GARD:0003105														https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2				owl:Class
HGNC:11573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014904	biolink:NamedThing	congenital disorder of glycosylation, type IAA		mondoexuq1wtf	congenital disorder of glycosylation, type IAA; CDG1AA|CDG1AA|congenital disorder of glycosylation, type IAA											OMIM:617082|DOID:0080553|UMLS:C4310727																		owl:Class
HGNC:21042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0006517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011959	biolink:NamedThing	sweet syndrome	Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.	mondoexuq1wtf	sweet syndrome|Gomm button disease|Gomm-button disease|neutrophilic dermatosis, acute febrile|Afnd|acute febrile neutrophilic dermatosis											UMLS:C0085077|SCTID:84625002|Orphanet:3243|MESH:D016463|ICD9:702.8|OMIM:608068|GARD:0000521|ICD10:L98.2|NCIT:C85177|MedDRA:10000748																		owl:Class
GO:0006091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007601	biolink:NamedThing	familial Mediterranean fever, autosomal dominant		mondoexuq1wtf	Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant											OMIM:134610|UMLS:C1851347|MESH:C565021																		owl:Class
HGNC:6998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013043	biolink:NamedThing	atypical hemolytic-uremic syndrome with C3 anomaly		mondoexuq1wtf	hemolytic uremic syndrome, atypical, susceptibility to, type 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|AHUS5|D-HUS with C3 anomaly|susceptibility to atypical hemolytic uremic syndrome 5|atypical HUS with C3 anomaly|hemolytic-uremic syndrome without diarrhea with C3 anomaly|Ahus, susceptibility to, 5|aHUS with C3 anomaly											ICD10:D58.8|OMIM:612925|Orphanet:93575																		owl:Class
HGNC:1318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013137	biolink:NamedThing	choroidal dystrophy, central areolar 2	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	mondoexuq1wtf	macular dystrophy, progressive|PRPH2 central areolar choroidal dystrophy|choroidal dystrophy, central areolar 2|central areolar choroidal dystrophy caused by mutation in PRPH2|choroidal dystrophy, central areolar type 2|CACD2											UMLS:C2751290|MESH:C567750|OMIM:613105																		owl:Class
HGNC:9942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012536	biolink:NamedThing	osteogenesis imperfecta type 7	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.	mondoexuq1wtf	osteogenesis imperfecta, type IIb|osteogenesis imperfecta caused by mutation in CRTAP|OI type 7|osteogenesis imperfecta, type IIb, formerly|osteogenesis imperfecta type VII|osteogenesis imperfecta, type VII|OI7|osteogenesis imperfecta, type 7|OI, type 7|CRTAP osteogenesis imperfecta|OI type VII											UMLS:C1853162|ICD10:Q78.0|SCTID:254111008|GARD:0008701|DOID:0110337|OMIM:610682																		owl:Class
HGNC:2379	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002282	biolink:NamedThing	West Nile fever	A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)	mondoexuq1wtf	West Nile virus caused disease or disorder|West Nile virus disease or disorder|West Nile virus infectious disease											SCTID:417093003|ICD10:A92.30|ICD10:A92.3|ICD9:066.4|DOID:2366|ICD9:066.40|MESH:D014901																		owl:Class
NCBITaxon:11082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0001863	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr2	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21307	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010455	biolink:NamedThing	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.	mondoexuq1wtf	Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|XMEN|combined immunodeficiency due to MAGT1 deficiency|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia											SCTID:711481001|Orphanet:317476|DOID:0080319|UMLS:C3275445|GARD:0010907|OMIM:300853|ICD10:D81.8																		owl:Class
HGNC:28880	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:40272	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100130	biolink:NamedThing	adult acute respiratory distress syndrome	A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.	mondoexuq1wtf	adult acute respiratory distress syndrome|adult ARDS|ARDS|adult RDS|adult respiratory distress syndrome, ARDS|respiratory distress syndrome, adult|adult respiratory distress syndrome							http://orcid.org/0000-0001-5208-3432				DOID:11394|Orphanet:70578|UMLS:C0035222|SCTID:67782005|MESH:D012128																		owl:Class
MONDO:0018919	biolink:NamedThing	McCune-Albright syndrome	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP).	mondoexuq1wtf	gonadotropin-independent female-limited sexual precocity|McCune Albright syndrome|polyostotic fibrous dysplasia|MAS|POFD|Albright's disease|PFD											SCTID:726029005|UMLS:C0016065|Orphanet:562|DOID:1858|ICD10:Q78.1|OMIM:174800|NCIT:C48627|GARD:0006995|UMLS:C0242292																		owl:Class
HGNC:6318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013533	biolink:NamedThing	hyperlipidemia due to hepatic triglyceride lipase deficiency	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.	mondoexuq1wtf	hyperlipidemia due to hepatic triacylglycerol lipase deficiency|hepatic lipase deficiency|HL deficiency|hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to HTGL deficiency|lipc deficiency|hyperlipidemia due to HL deficiency											UMLS:C3151466|GARD:0012864|Orphanet:140905|ICD10:E78.4|SCTID:720940008|OMIM:614025																		owl:Class
HGNC:6619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043073	biolink:NamedThing	Zadik-Barak-Levin syndrome		mondoexuq1wtf	dermoid cysts, hypothyroidism, cleft palate, and hypodontia|dermoid cysts, hypothyroidism, cleft palate and hypodontia											GARD:0000340|MESH:C536721|UMLS:C2931298																		owl:Class
NCBITaxon:12066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018301	biolink:NamedThing	interstitial cystitis	Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.	mondoexuq1wtf	ulcerative cystitis|painful bladder syndrome|bladder pain syndrome|interstitial cystitis/painful bladder syndrome|interstitial cystitis, chronic|IC/BPS|IC/PBS|interstitial cystitis/bladder pain syndrome|chronic interstitial cystitis											ICD9:595.1|COHD:75863|UMLS:C1720830|SCTID:197834003|NCIT:C27189|Orphanet:37202|DOID:1678|DOID:13949|EFO:1000869|UMLS:C0600040|MESH:D018856|UMLS:CN204884|ICD10:N30.1|MedDRA:10008927|SCTID:111409009|UMLS:C0282488|MedDRA:10011796																		owl:Class
MONDO:0001076	biolink:NamedThing	glucose intolerance	The inability to regulate blood glucose levels resulting in hyperglycemia.	mondoexuq1wtf	glucose: malabsorption|malabsorption of glucose|glucose: intolerance|glucose: [intolerance] or [malabsorption]											ICD10:R73.09|DOID:10603|NCIT:C34646|ICD9:271.3|SCTID:267426009|MESH:D018149|UMLS:C0271650																		owl:Class
MONDO:0002909	biolink:NamedThing	hyperglycemia	Abnormally high level of glucose in the blood.	mondoexuq1wtf												COHD:4214376|ICD10:R73.9|UMLS:C0020456|ICD9:790.6|DOID:4195|MESH:D006943|SCTID:80394007																		owl:Class
HGNC:3527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MF_0000008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001753	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15520	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014893	biolink:NamedThing	Okur-Chung neurodevelopmental syndrome		mondoexuq1wtf	Okur-Chung neurodevelopmental syndrome|Okur-Chung neurodevelopmental syndrome; OCNDS|OCNDS											OMIM:617062|UMLS:C4310739																		owl:Class
HGNC:2457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044207	biolink:NamedThing	specific granule deficiency 1	Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.	mondoexuq1wtf	CEBPE specific granule deficiency|specific granule deficiency caused by mutation in CEBPE|neutrophil lactoferrin deficiency|SGD1|lactoferrin-deficient neutrophils|specific granule deficiency 1											OMIM:245480																		owl:Class
HGNC:1836	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012654	biolink:NamedThing	atrial septal defect 4	Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.	mondoexuq1wtf	atrial septal defect type 4|atrial heart septal defect caused by mutation in TBX20|TBX20 atrial heart septal defect|ASD4|atrial septal defect 4|atrial heart septal defect type 4											MESH:C566963|ICD10:Q21.1|UMLS:C1969657|OMIM:611363|DOID:0110109																		owl:Class
HGNC:11598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000208	biolink:NamedThing	microcephaly, short stature, and impaired glucose metabolism 1		mondoexuq1wtf	microcephaly, short stature, and impaired glucose metabolism 1|MSSGM1|MSSGM|microcephaly, short stature, and impaired glucose metabolism											DC:0000719|OMIM:616033|UMLS:C4014997																		owl:Class
HGNC:28403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012893	biolink:NamedThing	osteoarthritis susceptibility 5	Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.	mondoexuq1wtf	OS5|osteoarthritis susceptibility type 5|osteoarthritis of hip|osteoarthritis caused by mutation in GDF5|osteoarthritis susceptibility 5|GDF5 osteoarthritis											SCTID:239872002|UMLS:C0029410|OMIM:612400																		owl:Class
HGNC:4220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007072	biolink:NamedThing	ADULT syndrome	ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	mondoexuq1wtf	acro-dermato-ungual-lacrimal-tooth syndrome|acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|ADULT syndrome|acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome											ICD10:Q87.2|UMLS:C1863204|MESH:C538052|Orphanet:978|DOID:0050601|SCTID:720464003|OMIM:103285|GARD:0000384																		owl:Class
HP:0002164	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011494	biolink:NamedThing	hyaluronan metabolism, defect 1N		mondoexuq1wtf	hyaluronan metabolism, defect type 1N|hyaluronan metabolism, defect IN											UMLS:C1858083|MESH:C565742|OMIM:604855																		owl:Class
GO:0030212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014381	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 4	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.	mondoexuq1wtf	cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis type 4|cholestasis, progressive familial intrahepatic, type 4|TJP2 progressive familial intrahepatic cholestasis|TJP2 deficit|progressive familial intrahepatic cholestasis caused by mutation in TJP2|cholestasis, progressive familial intrahepatic 4|PFIC4|progressive familial intrahepatic cholestasis 4										MONDO:0018803	DOID:0070224|UMLS:CN776838|UMLS:C2931067|OMIM:615878|GARD:0009803|Orphanet:480483																		owl:Class
HGNC:11828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013394	biolink:NamedThing	porencephaly-microcephaly-bilateral congenital cataract syndrome		mondoexuq1wtf	hemorrhagic destruction of the brain, subependymal calcification, and cataracts|HDBSCC											Orphanet:306547|OMIM:613730|UMLS:C3151000																		owl:Class
HGNC:15532	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0029134	biolink:NamedThing	severe combined immunodeficiency due to CARMIL2 deficiency		mondoexuq1wtf	IMD58|immunodeficiency 58											Orphanet:542301|OMIM:618131																		owl:Class
HGNC:27089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020779	biolink:NamedThing	cartilage development disorder	Any dysfunction in the growth of cartilage.	mondoexuq1wtf	cartilage development disorder|Congenital anomaly of cartilage|chondrodystrophy|abnormal development of cartilage											UMLS:C0008449|NCIT:C34466|ICD9:756.4|SCTID:67988000|ICD9:756.9																		owl:Class
GO:0051216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012238	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.	mondoexuq1wtf	progressive external ophthalmoplegia, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|PEOA2|SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2											MESH:C563750|DOID:0111517|OMIM:609283|UMLS:C1836460																		owl:Class
HGNC:10990	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20893	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012355	biolink:NamedThing	autosomal recessive nonsyndromic deafness 28	An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.	mondoexuq1wtf	DFNB28|TRIOBP autosomal recessive nonsyndromic deafness|autosomal recessive deafness 28|deafness, autosomal recessive type 28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|deafness, autosomal recessive 28|autosomal recessive nonsyndromic deafness type 28											UMLS:C1853276|NCIT:C129023|MESH:C565218|ICD10:H90.3|OMIM:609823|DOID:0110486																		owl:Class
HGNC:17009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019444	biolink:NamedThing	Trichinellosis	A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.	mondoexuq1wtf	infection with Trichinella|trichiniasis|Human trichinellosis|trichinosis											MESH:D014235|ICD10:B75|Orphanet:863|GARD:0005250|SCTID:709018004|MedDRA:10044608																		owl:Class
MONDO:0011601	biolink:NamedThing	neonatal intrahepatic cholestasis due to citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.	mondoexuq1wtf	citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia|cholestasis, neonatal intrahepatic, caused by citrin deficiency|NICCD|citrullinemia, type II, neonatal-onset|neonatal intrahepatic cholestasis caused by citrin deficiency|neonatal-onset citrullinemia type 2|neonatal-onset citrullinemia type II											MESH:C536398|Orphanet:247598|UMLS:C4274030|OMIM:605814|SCTID:717155003|UMLS:C1853942|ICD10:E72.2|GARD:0010214																		owl:Class
HGNC:10983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011708	biolink:NamedThing	autosomal dominant nonsyndromic deafness 36	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	mondoexuq1wtf	autosomal dominant deafness 36|DFNA36|autosomal dominant nonsyndromic deafness type 36|deafness, autosomal dominant type 36|TMC1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal dominant 36											DOID:0110563|MESH:C564675|OMIM:606705|ICD10:H90.3|UMLS:C1847626																		owl:Class
HGNC:16513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010278	biolink:NamedThing	Christianson syndrome	Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.	mondoexuq1wtf	intellectual disability, X-linked syndromic, Christianson type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|X-linked intellectual disability, South African type|intellectual disability x-linked syndromic Christianson type|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|MRXS Christianson|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy|intellectual disability microcephaly epilepsy and ataxia syndrome|Angelman-like syndrome, X-linked|mental retardation, X-linked, syndromic, Christianson type|X-linked Angelman-like syndrome|Angelman-like syndrome x-linked|intellectual disability, X-linked, syndromic, Christianson type|MRXSCH|mental retardation, X-linked syndromic, Christianson type											UMLS:C2678194|MESH:C567484|DOID:0060825|ICD9:759.89|ICD10:Q87.8|GARD:0010572|Orphanet:85278|OMIM:300243|SCTID:702354007														https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome				owl:Class
HGNC:11079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011018	biolink:NamedThing	brachyolmia-amelogenesis imperfecta syndrome	Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	mondoexuq1wtf	tooth agenesis, selective, 6, formerly|Verloes Bourguignon syndrome|tooth agenesis, selective, 6|DASS|amelogenesis imperfecta and platyspondyly|STHAG6|platyspondyly with amelogenesis imperfecta|Verloes-Bourguignon syndrome|selective tooth agenesis 5|platyspondyly-amelogenesis imperfecta syndrome|skeletal dysplasia with amelogenesis imperfecta and platyspondyly|dental anomalies and short stature											Orphanet:2899|OMIM:601216|GARD:5478|ICD10:Q76.3|GARD:0005478|DOID:0090143|SCTID:716195006																		owl:Class
HGNC:6716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017079	biolink:NamedThing	meningoencephalocele	A congenital abnormality in which the meninges protrude through a defect in the cranium.	mondoexuq1wtf	cranial meningocele|encephalomeningocele|brain meninx cephalocele (disease)|meningoencephalocele|cephalocele (disease) of brain meninx											ICD10:Q01.0|NCIT:C124517|UMLS:C0009694|ICD10:Q01.2|Orphanet:268820|ICD10:Q01.8|SCTID:52330001|ICD10:Q01.1|ICD10:Q01.9|GARD:0003473																		owl:Class
UBERON:0003547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9251	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6209	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001326	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018395	biolink:NamedThing	male infertility due to sperm motility disorder		mondoexuq1wtf	Male infertility due to asthenozoospermia											UMLS:CN227341|ICD10:N46|Orphanet:399813																		owl:Class
GO:0030317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006078	biolink:NamedThing	AIDS-related primary central nervous system lymphoma	A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.	mondoexuq1wtf	AIDS related lymphoma of primary central nervous system|AIDS-related lymphoma of the primary central nervous system|AIDS-related primary CNS lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS related primary central nervous system lymphoma|AIDS related primary CNS lymphoma|AIDS-related lymphoma of primary central nervous system											EFO:1000077|UMLS:C0281241|NCIT:C8284																		owl:Class
HGNC:13187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013891	biolink:NamedThing	amyotrophic lateral sclerosis type 18	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 18|ALS18|amyotrophic lateral sclerosis caused by mutation in PFN1|amyotrophic lateral sclerosis type 18|PFN1 amyotrophic lateral sclerosis											OMIM:614808|UMLS:C3553719|DOID:0060209																		owl:Class
HGNC:8881	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:37727	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008060	biolink:NamedThing	nonsyndromic congenital nail disorder 1	Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.	mondoexuq1wtf	claw-Shaped nails|NDNC10|nail disorder, nonsyndromic congenital, 10|twenty-nail dystrophy|idiopathic trachyonychia|autosomal dominant nail dysplasia|onychodystrophy totalis, isolated|autosomal recessive nail dysplasia|nonsyndromic congenital nail disorder type 1|nonsyndromic congenital nail disorder 10|twenty nail dystrophy|NDNC1|nail Growth|onychodystrophy totalis|FZD6 inherited isolated nail anomaly|sandpaper nails|nail disorder, nonsyndromic congenital, type 10|nail disorder, nonsyndromic congenital 1|nonsyndromic congenital nail disorder type 10|inherited isolated nail anomaly caused by mutation in FZD6|nail disorder, nonsyndromic congenital, 1|onychauxis, hyponychia, and onycholysis|trachyonychia											ICD10:L60.3|Orphanet:280654|DOID:0080088|UMLS:C3279974|MESH:C562907|OMIM:161050|ICD10:Q84.6|SCTID:238719003|UMLS:C0406443|DOID:0080079|Orphanet:79153|OMIM:614157|ICD9:703.8|GARD:0010363																		owl:Class
HGNC:4044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003975	biolink:NamedThing	Littre gland carcinoma	A carcinoma involving a male urethral gland.	mondoexuq1wtf	carcinoma of Littré glands|male urethral gland carcinoma|carcinoma of LittrC) glands|carcinoma of male urethral gland|carcinoma of Littre glands											DOID:6721|UMLS:C1516285|NCIT:C39865																		owl:Class
UBERON:0010186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012591	biolink:NamedThing	osteogenesis imperfecta type 5	Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).	mondoexuq1wtf	OI with calcification in interosseous membranes|OI5|osteogenesis imperfecta, type V|osteogenesis imperfecta, type 5|osteogenesis imperfecta caused by mutation in IFITM5|type V OI|IFITM5 osteogenesis imperfecta|OI, type 5|OI type V|osteogenesis imperfecta type V|OI type 5											OMIM:610967|Orphanet:216828|UMLS:C1970414|MESH:C567042|DOID:0110344|ICD10:Q78.0|GARD:0008699																		owl:Class
HGNC:16644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003470	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014438	biolink:NamedThing	Bardet-Biedl syndrome 10	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.	mondoexuq1wtf	Bardet-Biedl syndrome type 10|BBS10 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS10|Bardet-Biedl syndrome 10|BBS10											ICD10:Q87.89|UMLS:C1859568|OMIM:615987|MESH:C565919|GARD:0010209|EFO:0009022|DOID:0110132																		owl:Class
HGNC:26291	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012403	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 7		mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, 7|SLEB7											OMIM:610065																		owl:Class
HGNC:89	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014839	biolink:NamedThing	chorea, childhood-onset, with psychomotor retardation		mondoexuq1wtf	chorea, childhood-onset, with psychomotor retardation; COCPMR|chorea, childhood-onset, with psychomotor retardation|COCPMR											OMIM:616939|UMLS:C4310787																		owl:Class
HGNC:4539	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014395	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.	mondoexuq1wtf	frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2											DOID:0060214|OMIM:615911|UMLS:C4014648																		owl:Class
HGNC:15559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008560	biolink:NamedThing	thrombophilia due to activated protein C resistance	A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.	mondoexuq1wtf	thrombophilia due to ACTIVATED PROTEIN C resistance|APC resistance|thrombophilia 5|Proc cofactor deficiency|Pccf deficiency|thrombophilia due to Factor 5 Leiden|thrombophilia due to activated protein C resistance|THPH2|Activated Protein C resistance|thrombophilia due to deficiency of Activated Protein C cofactor|resistance, APC											SCTID:421527008|UMLS:C1861171|OMIM:188055|MESH:D020016|ICD9:289.81																		owl:Class
HGNC:3542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013778	biolink:NamedThing	pseudohypoaldosteronism type 2C	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.	mondoexuq1wtf	pseudohypoaldosteronism type 2 caused by mutation in WNK1|WNK1 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2C|pseudohypoaldosteronism, type IIC|PHA2C											ICD10:I15.1|Orphanet:88940|UMLS:C1840391|OMIM:614492|MESH:C564162																		owl:Class
HGNC:14540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021379	biolink:NamedThing	neoplasm of epicardium	A neoplasm (disease) that involves the epicardium.	mondoexuq1wtf	tumor of the epicardium|neoplasm of the epicardium|epicardium tumor|epicardial neoplasm|neoplasm of epicardium|epicardium neoplasm|epicardial tumor|epicardium neoplasm (disease)|tumor of epicardium											SCTID:126733004|NCIT:C5347|ICD9:239.89|UMLS:C1290403																		owl:Class
UBERON:0002348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001980	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002355	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7643	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011816	biolink:NamedThing	lathosterolosis	Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.	mondoexuq1wtf	Sc5D deficiency|sterol C5-desaturase deficiency|lathosterolosis											OMIM:607330|SCTID:719257008|GARD:0009711|Orphanet:46059|MESH:C537880|UMLS:C1846421|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis				owl:Class
HGNC:10547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007232	biolink:NamedThing	autosomal dominant brachyolmia	Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	mondoexuq1wtf	brachyolmia, autosomal dominant|brachyrachia|brachyolmia type 3|BCYM3|brachyolmia autosomal dominant											SCTID:717264003|OMIM:113500|Orphanet:93304|GARD:0010429|ICD10:Q76.3																		owl:Class
HGNC:18083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001548	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014657	biolink:NamedThing	primary ciliary dyskinesia 32	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.	mondoexuq1wtf	RSPH3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 32|primary ciliary dyskinesia 32 without situs inversus|CILD32|ciliary dyskinesia, primary, 32, without situs inversus|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia type 32|primary ciliary dyskinesia caused by mutation in RSPH3											OMIM:616481|UMLS:C4225311|ICD10:Q34.8|DOID:0110603																		owl:Class
HGNC:21054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018642	biolink:NamedThing	NIK deficiency	A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).	mondoexuq1wtf	MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14|primary immunodeficiency with multifaceted aberrant lymphoid immunity											Orphanet:447731|ICD10:D81.8																		owl:Class
HP:0004313	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013416	biolink:NamedThing	age related macular degeneration 8	Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.	mondoexuq1wtf	age related macular degeneration type 8|age-related macular degeneration caused by mutation in ARMS2|ARMD8|macular degeneration, age-related, 8|macular Degeneration, age-related, type 8|ARMS2 age-related macular degeneration											OMIM:613778|UMLS:C3151070|DOID:0110020																		owl:Class
HGNC:32685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012746	biolink:NamedThing	dilated cardiomyopathy 2A	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.	mondoexuq1wtf	CMD2A|cardiomyopathy, congestive, autosomal recessive|cardiomyopathy, dilated, type 2A|cardiomyopathy, dilated, autosomal recessive|dilated cardiomyopathy type 2A|cardiomyopathy, dilated, 2A											ICD10:I42.0|UMLS:C2678474|DOID:0110460|OMIM:611880																		owl:Class
MONDO:0014548	biolink:NamedThing	long QT syndrome 14	Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.	mondoexuq1wtf	long QT syndrome caused by mutation in CALM1|long QT syndrome type 14|CALM1 long QT syndrome|long QT syndrome 14|LQT14											OMIM:616247|UMLS:C4015671|DOID:0110655|ICD10:I45.8																		owl:Class
HGNC:1442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003366	biolink:NamedThing	hydrarthrosis	Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)	mondoexuq1wtf												ICD9:719.08|DOID:528|ICD9:719.00|MESH:D006833|SCTID:387637008																		owl:Class
HGNC:678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009998	biolink:NamedThing	Richieri Costa-Pereira syndrome	Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.	mondoexuq1wtf	short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri-Costa-Pereira syndrome|short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|ROBIN sequence with cleft mandible and limb anomalies|Richieri-Costa and Pereira form of acrofacial dysostosis|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|Richieri Costa Pereira syndrome											Orphanet:3102|ICD10:Q87.8|SCTID:723998001|UMLS:C1849348|GARD:0004718|MESH:C535677|OMIM:268305														https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome				owl:Class
HGNC:18683	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010953	biolink:NamedThing	Fanconi anemia complementation group E	Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.	mondoexuq1wtf	Fanconi anemia complementation group type E|Fanconi anemia caused by mutation in FANCE|Fanconi Anemia, complementation group type E|face|FANCE Fanconi anemia|FANCE|Fanconi anemia, complementation group E											DOID:0111084|NCIT:C125709|UMLS:C3160739|OMIM:600901																		owl:Class
HGNC:3586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000006537	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MFOMD_0000122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12796	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014356	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 7	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.	mondoexuq1wtf	UQCC2 mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 7|MC3DN7|mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial complex III deficiency, nuclear type 7											OMIM:615824|UMLS:C4014408|DOID:0080116																		owl:Class
HGNC:21237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0800001	biolink:NamedThing	delayed sleep phase syndrome, susceptibility to	An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.	mondoexuq1wtf								http://orcid.org/0000-0001-8314-2140				OMIM:614163														https://github.com/monarch-initiative/mondo/issues/2863				owl:Class
HGNC:2384	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019498	biolink:NamedThing	tungiasis	An disease or disorder caused by infection with Tunga penetrans.	mondoexuq1wtf	chigger flea|S penetrans|Tunga penetrans|Sarcopsylla penetrans|Tunga penetrans infectious disease|Tunga penetrans caused disease or disorder|Tunga penetrans disease or disorder|T penetrans											ICD10:B88.1|UMLS:C0277356|MESH:D058285|DOID:0050266|SCTID:64612002|ICD9:134.1|EFO:1001445|Orphanet:879|GARD:0000393														https://rarediseases.info.nih.gov/diseases/393/tungiasis				owl:Class
NCBITaxon:214035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18622	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012336	biolink:NamedThing	cataract 22 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.	mondoexuq1wtf	CTRCT22|early-onset non-syndromic cataract caused by mutation in CRYBB3|CRYBB3 early-onset non-syndromic cataract|CATCN2|autosomal recessive congenital nuclear cataract 2|cataract, congenital nuclear, autosomal recessive 2|cataract 22, multiple types											OMIM:609741|UMLS:C1857853|MESH:C565725|ICD10:Q12.0|DOID:0110268																		owl:Class
HGNC:2400	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C68749	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001768	biolink:NamedThing	stenosis of lacrimal passage		mondoexuq1wtf	stenosis of lacrimal canaliculi											DOID:13654|COHD:441025|SCTID:81345003|ICD10:H04.54|ICD9:375.53|ICD10:H04.549																		owl:Class
UBERON:0001770	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015804	biolink:NamedThing	infant botulism	A botulism that occurs between 28 days to one year of life..	mondoexuq1wtf	infant intestinal botulism|infant intestinal toxin-mediated botulism|infantile onset botulism|infant intestinal toxemia botulism|infantile botulism|botulism of infancy											DOID:0050354|ICD10:A05.1|ICD10:A48.51|SCTID:414488002|NCIT:C128343|Orphanet:178478|UMLS:C0238027																		owl:Class
MONDO:0001924	biolink:NamedThing	dystrophies primarily involving the retinal pigment epithelium		mondoexuq1wtf												ICD10:H35.54|ICD9:362.76|DOID:14252																		owl:Class
UBERON:0001782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006254	biolink:NamedThing	intestinal type adenocarcinoma	An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.	mondoexuq1wtf	intestinal-type adenocarcinoma|intestinal type carcinoma											UMLS:C0334279|ICDO:8144/3|EFO:1000304|NCIT:C4126																		owl:Class
UBERON:0001277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010402	biolink:NamedThing	syndromic X-linked intellectual disability 94	A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.	mondoexuq1wtf	mental retardation, X-linked, syndromic, Wu type|mental retardation, X-linked, syndromic 29|MRX94|mental retardation, X-linked 94|intellectual disability, X-linked, syndromic, Wu type|syndromic X-linked intellectual disability due to GRIA3 anomalies|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability type 94|intellectual disability, X-linked, syndromic 29|syndromic X-linked intellectual disability 29|intellectual disability, X-linked 94|MRXSW|syndromic X-linked mental retardation 29|MRXS29|syndromic X-linked intellectual disability Wu type											ICD10:F72|OMIM:300699|UMLS:C2678051|MESH:C567479|DOID:0060823																		owl:Class
HGNC:4573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11281	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021388	biolink:NamedThing	neoplasm of chest wall	A neoplasm (disease) that involves the chest wall.	mondoexuq1wtf	chest wall neoplasm|tumor of chest wall|neoplasm of chest wall|chest wall tumor|tumor of the chest wall|chest wall neoplasm (disease)|neoplasm of the chest wall											ICD9:239.89|UMLS:C1290309|NCIT:C4929|SCTID:126640008																		owl:Class
UBERON:0016435	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017876	biolink:NamedThing	Venezuelan hemorrhagic fever	Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.	mondoexuq1wtf	Guanarito hemorrhagic fever											UMLS:C0042470|ICD10:A96.8|DOID:0050196|Orphanet:319234|SCTID:359673001																		owl:Class
NCBITaxon:134742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014576	biolink:NamedThing	lipoyl transferase 1 deficiency		mondoexuq1wtf	LIPT1D|lipoyltransferase 1 deficiency											OMIM:616299|ICD10:E88.8|Orphanet:401862|UMLS:C4225379																		owl:Class
HGNC:29569	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007285	biolink:NamedThing	cataract 1 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.	mondoexuq1wtf	cataract 1, multiple types, with or without microcornea|CTRCT1|zonular pulverulent cataract 1|cataract (disease) caused by mutation in GJA8|cataract, zonular pulverulent, 1|GJA8 cataract (disease)|CAE1|cataract 1, multiple types|cataract, Duffy-linked|CZP1|Duffy linked cataract											ICD10:Q12.0|OMIM:116200|MESH:C566158|UMLS:C1861828|DOID:0110231																		owl:Class
HGNC:4281	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013304	biolink:NamedThing	von Willebrand disease 2	Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).	mondoexuq1wtf	von Willebrand disease type II|VWD, type 2|von willebrand's disease 2|von Willebrand disease type 2|Von Willebrand disease, type 2B|VWD type 2|von Willebrand's disease type 2|Von Willebrand disease, type 2M|Von Willebrand disease, type 2A|VWD2|VON WILLEBRAND disease, type 2|Von Willebrand disease, type 2|Von Willebrand disease, type 2N											ICD10:D68.0|SCTID:128107007|MESH:D056728|OMIM:613554|UMLS:C1264040|Orphanet:166081|DOID:0060574																		owl:Class
HGNC:12726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008922	biolink:NamedThing	Sengers syndrome	Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	mondoexuq1wtf	mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)|mitochondrial DNA depletion syndrome 10|Sengers syndrome|cataract and cardiomyopathy|cardiomyopathy and cataract|cardiomyopathic mitochondrial DNA depletion syndrome 10|congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome											ICD10:Q87.8|UMLS:C1859317|OMIM:212350|SCTID:717812000|DOID:0080132|GARD:0001142|Orphanet:1369|MESH:C538280														https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome				owl:Class
HGNC:21869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010958	biolink:NamedThing	cardiac arrhythmia, ankyrin-B-related		mondoexuq1wtf	ankyrin-B syndrome|LQT4|cardiac arrhythmia, ankyrin-b-related|long QT syndrome 4					Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent						UMLS:C1970119|DOID:0111700|OMIM:600919|DOID:0111701|GARD:0010432|SCTID:764457005																		owl:Class
HGNC:493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009709	biolink:NamedThing	myopathy, centronuclear, 2	Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.	mondoexuq1wtf	BIN1 centronuclear myopathy|myopathy, centronuclear, autosomal recessive|CNM2|myopathy, centronuclear, type 2|centronuclear myopathy caused by mutation in BIN1|myopathy, centronuclear, 2|myotubular myopathy, autosomal recessive											OMIM:255200|MESH:C562934|DOID:0111220																		owl:Class
HGNC:1052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012615	biolink:NamedThing	intellectual disability, autosomal recessive 7	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.	mondoexuq1wtf	TUSC3 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 7|mental retardation, autosomal recessive 7|MRT7|intellectual disability, autosomal recessive 7|intellectual disability, autosomal recessive 22|intellectual disability, autosomal recessive type 7|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|mental retardation, autosomal recessive 22											UMLS:C1970197|MESH:C567016|OMIM:611093																		owl:Class
HGNC:30242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001911	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010969	biolink:NamedThing	cone-rod dystrophy 5	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.	mondoexuq1wtf	cone-rod dystrophy caused by mutation in PITPNM3|CORD5|cone-rod dystrophy type 5|PITPNM3 cone-rod dystrophy|cone-rod dystrophy 5											DOID:0111010|GARD:0010655|UMLS:C1832976|OMIM:600977|MESH:C563415														https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5				owl:Class
HGNC:21043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013954	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.	mondoexuq1wtf	immunodeficiency type 29|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IMD29|immunodeficiency 29|IL12B deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|MSMD due to complete IL12B deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|MSMD due to complete interleukin 12B deficiency											UMLS:C4013948|Orphanet:319558|OMIM:614890|ICD10:D84.8																		owl:Class
HGNC:5970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008316	biolink:NamedThing	thrombophilia due to protein C deficiency, autosomal dominant		mondoexuq1wtf	Protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|THPH3|thrombophilia due to PROTEIN C deficiency, autosomal dominant|thrombophilia due to protein C deficiency, autosomal dominant|Protein C deficiency, acquired											OMIM:176860																		owl:Class
HGNC:9451	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000347	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018489	biolink:NamedThing	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	mondoexuq1wtf	anti-IgLON5 disease|anti-IgLON5 syndrome											UMLS:CN237490|Orphanet:420789|ICD10:G04.8|SCTID:765751002																		owl:Class
HP:0025234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001703	biolink:NamedThing	color vision disorder	The absence of or defect in the perception of colors.	mondoexuq1wtf	color vision deficiency|color blindness|blindness color|colour vision deficiency|colour blindness|color vision defects|color-vision disease											Orphanet:98658|SCTID:193683001|ICD10:H53.50|NCIT:C3891|UMLS:CN207064|ICD9:368.5|ICD10:H53.5|ICD9:368.59|UMLS:C0009398|UMLS:C0242225|DOID:13399																		owl:Class
CL:0000573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011415	biolink:NamedThing	Leber congenital amaurosis 3	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.	mondoexuq1wtf	SPATA7 Leber congenital amaurosis|amaurosis congenita of Leber, type 3|Leber congenital amaurosis type 3|Leber congenital amaurosis caused by mutation in SPATA7|retinitis pigmentosa, juvenile, Spata7-related|Leber congenital amaurosis 3|LCA3											DOID:0110331|MESH:C565814|GARD:0009661|OMIM:604232|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3				owl:Class
HGNC:20423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014319	biolink:NamedThing	renal hypodysplasia/aplasia 2	Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.	mondoexuq1wtf	RHDA2|renal hypodysplasia/aplasia 2|renal hypodysplasia/aplasia type 2|FGF20 renal agenesis (disease)|renal agenesis (disease) caused by mutation in FGF20											OMIM:615721|UMLS:C3810359																		owl:Class
HGNC:3677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0050957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7197	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000230	biolink:NamedThing	Israeli tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. israelensis.	mondoexuq1wtf	Israeli spotted fever											DOID:0050043																		owl:Class
NCBITaxon:34632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:747	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012742	biolink:NamedThing	Brugada syndrome 3	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.	mondoexuq1wtf	Brugada syndrome 3|Brugada syndrome caused by mutation in CACNA1C|CACNA1C Brugada syndrome|Brugada syndrome type 3|BRGDA3											OMIM:611875|UMLS:C2678478|GARD:0010361|MESH:C567509|DOID:0110220|ICD10:I49.8														https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3				owl:Class
HGNC:1390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15672	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011613	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 6	Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.	mondoexuq1wtf	Parkinson disease 6, late-onset, susceptibility to|Parkinson disease 6, autosomal recessive early-onset|early-onset Parkinson disease 6|PARK6|Parkinson disease 6, early-onset|PINK1 Parkinson disease|autosomal recessive early-onset Parkinson's disease 6|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|autosomal recessive early-onset Parkinson disease type 6|Parkinson disease caused by mutation in PINK1											OMIM:605909|DOID:0060369|MESH:C565276																		owl:Class
HGNC:14581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022202	biolink:NamedThing	disseminated		mondoexuq1wtf																														owl:Class
MONDO:0014967	biolink:NamedThing	heterotaxy, visceral, 8, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.	mondoexuq1wtf	heterotaxy, visceral, 8, autosomal; HTX8|visceral heterotaxy caused by mutation in PKD1L1|HTX8|PKD1L1 visceral heterotaxy|heterotaxy, visceral, 8, autosomal											UMLS:C4310668|OMIM:617205																		owl:Class
HGNC:18053	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007441	biolink:NamedThing	dentinogenesis imperfecta type 2	Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.	mondoexuq1wtf	Capdepont teeth|DI-2|opalescent teeth without osteogenesis imperfecta|DGI1|dentinogenesis imperfecta, Shields type 2|DGI-2|opalescent dentin|DGI-II|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta 1|dentinogenesis imperfecta type 1											Orphanet:166260|OMIM:125490|ICD10:K00.5|GARD:0012796																		owl:Class
HGNC:3054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006796	biolink:NamedThing	hypertensive encephalopathy	Encephalopathy resulting from hypertension.	mondoexuq1wtf												ICD9:437.2|EFO:1000976|COHD:312938|SCTID:50490005|MedDRA:10020803|DOID:9427|MESH:D020343|NCIT:C3503|UMLS:C0151620|ICD10:I67.4																		owl:Class
MONDO:0010873	biolink:NamedThing	band heterotopia of brain		mondoexuq1wtf	band heterotopia|band heterotopia of brain|BH					Editor check: TODO						OMIM:600348|MESH:C563950|UMLS:C1838239																		owl:Class
HGNC:3330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011528	biolink:NamedThing	hyper-IgM syndrome type 2	A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.	mondoexuq1wtf	aid deficiency|hyper-IgM syndrome caused by mutation in AICDA|AICDA hyper-IgM syndrome|hyper-IgM syndrome 2|hyper IgM syndrome 2|immunodeficiency with hyper-IgM, type 2|Activation-induced cytidine deaminase deficiency|immunodeficiency with hyper IgM type 2|activation-induced cytidine deaminase deficiency|hyper-IgM syndrome type 2|HIGM2|immunodeficiency with hyper-IgM type 2											DOID:0060758|SCTID:403836001|Orphanet:101089|ICD10:D80.5|NCIT:C129074|GARD:0010578|OMIM:605258														https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2				owl:Class
HGNC:13203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007813	biolink:NamedThing	ichthyosis bullosa of Siemens	Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.	mondoexuq1wtf	SEI|ichthyosis bullosa of Siemens|bullous type of ichthyosis|bullous type ichthyosis|ichthyosis, bullous type|IBS|ichthyosis exfoliativa|superficial epidermolytic ichthyosis											Orphanet:455|SCTID:254169002|ICD10:Q80.8|DOID:0060877|GARD:0002966|MESH:D053560|UMLS:C0432306|OMIM:146800|NCIT:C84777														https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens				owl:Class
HGNC:6439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005459	biolink:NamedThing	human African trypanosomiasis	A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.	mondoexuq1wtf	Africam sleeping sickness|sleeping sickness|African sleeping sickness|African trypanosomiasis										MONDO:0018073	SCTID:27031003|MESH:D014353|ICD10:B56.9|KEGG:05143|DOID:10112|ICD10:B56|UMLS:C0041228|NCIT:C84541|EFO:0005225|ICD10:B56.1|MedDRA:10001461|Orphanet:3385|ICD9:086.5|ICD10:B56.0|GARD:0007826																		owl:Class
NCBITaxon:5691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11851	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20449	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0061337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033483	biolink:NamedThing	erythrocytosis, familial, 5	Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.	mondoexuq1wtf	erythrocytosis, familial, 5|familial polycythemia caused by mutation in EPO|ECYT5|EPO familial polycythemia|familial erythrocytosis 5											OMIM:617907|UMLS:CN873435|DOID:0080290																		owl:Class
HGNC:3415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002234	biolink:NamedThing	vaginitis	A non-infectious or infectious inflammatory process affecting the vagina.	mondoexuq1wtf	inflammation of vagina|vagina inflammation|vaginitis (disease)|vaginitis|vaginal Inflammation|vaginal inflammation		vaginitis (disease)									MESH:D014627|HP:0030683|ICD9:616.10|DOID:2170|NCIT:C26911|UMLS:C0042267|ICD9:616.1|SCTID:30800001|EFO:0005757																		owl:Class
UBERON:0000996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002442	biolink:NamedThing	long QT syndrome	A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.	mondoexuq1wtf	LQT|long Q-T syndrome|ventricular arrhythmia associated with long QT syndrome											UMLS:C0023976|MESH:D008133|COHD:314664|NCIT:C34786|DOID:2843|ICD10:I45.81|ICD9:426.82																		owl:Class
UBERON:0002196	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010706	biolink:NamedThing	premature ovarian failure 1	Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.	mondoexuq1wtf	ovarian failure, premature|FMR1-related primary ovarian insufficiency|premature ovarian failure 1|Pof1|fragile X-associated primary ovarian insufficiency|premature ovarian failure, X-linked|premature ovarian failure type 1|FMR1 primary ovarian failure|familial premature ovarian failure|idiopathic familial premature ovarian failure|hypergonadotropic ovarian failure, X-linked|primary ovarian failure caused by mutation in FMR1|FMR1-related premature ovarian failure											OMIM:311360|ICD9:256.39|GARD:0004480																		owl:Class
MONDO:0014098	biolink:NamedThing	CIDEC-related familial partial lipodystrophy		mondoexuq1wtf	CIDEC-related FPLD|lipodystrophy, familial partial, type 5|FPLD5|lipodystrophy, familial partial, associated with Cidec mutations											GARD:0013125|DOID:0070203|OMIM:615238|Orphanet:435651|ICD10:E88.1|UMLS:C3808940																		owl:Class
HGNC:24229	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021396	biolink:NamedThing	polyp of vulva	A polyp that involves the mammalian vulva.	mondoexuq1wtf	vulvar polyp|mammalian vulva polyp|polyp of the vulva|vulva polyp											ICD10:N84.3|NCIT:C3978|ICD9:624.6|SCTID:57158005|UMLS:C0269218																		owl:Class
UBERON:0000997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009346	biolink:NamedThing	histidinuria due to a renal tubular defect		mondoexuq1wtf	histidinuria-renal tubular defect syndrome|histidinuria due to a renal tubular defect											MESH:C538321|UMLS:C0268642|ICD10:E70.8|OMIM:235830|Orphanet:2158|GARD:0002708																		owl:Class
MONDO:0000539	biolink:NamedThing	striated muscle rhabdoid tumor	A rhabdoid tumor that involves the striated muscle tissue.	mondoexuq1wtf	striated muscle tissue rhabdoid tumor											DOID:0050924																		owl:Class
UBERON:0002036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014602	biolink:NamedThing	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 35|intellectual disability, autosomal dominant 35|MRD35|intellectual disability, autosomal dominant type 35|autosomal dominant mental retardation 35|autosomal dominant intellectual disability 35|mental retardation, autosomal dominant 35|mental retardation, autosomal dominant type 35											DOID:0070065|UMLS:C4225354|OMIM:616355|Orphanet:457279																		owl:Class
HGNC:9312	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014359	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 4	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.	mondoexuq1wtf	pigmented nodular adrenocortical disease, primary, type 4|ACTH-independent adrenal Cushing syndrome, somatic|Cushing syndrome, adrenal, due to Ppnad4|pigmented nodular adrenocortical disease, primary, 4|chromosome 19P13 Duplication syndrome|PPNAD4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|PRKACA primary pigmented nodular adrenocortical disease											UMLS:C4014425|OMIM:615830																		owl:Class
HGNC:9380	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014843	biolink:NamedThing	premature ovarian failure 11	Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.	mondoexuq1wtf	premature ovarian failure 11; POF11|ERCC6 primary ovarian failure|POF11|premature ovarian failure 11|premature ovarian failure type 11|primary ovarian failure caused by mutation in ERCC6											UMLS:C4310783|OMIM:616946																		owl:Class
HGNC:3438	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7680	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042747	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010421	biolink:NamedThing	Bruton-type agammaglobulinemia	X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.	mondoexuq1wtf	hypogammaglobulinemia, X-linked|Bruton's type agammaglobulinemia|Bruton's agammaglobulinemia|X-linked agammaglobulinemia|agammaglobulinemia, Bruton tyrosine kinase|Bruton type agammaglobulinemia|immunodeficiency 1|Bruton-type agammaglobulinemia|Bruton's Sex-linked agammaglobulinemia|agammaglobulinemia, X-linked|BTK-deficiency|Bruton agammaglobulinemia tyrosine kinase deficiency|BTK deficiency|agammaglobulinemia, BTK|Bruton's agammaglobulinaemia|agammaglobulinemia, X-linked, type 1|XLA|Bruton's X-linked agammaglobulinemia											Orphanet:47|ICD10:D80.0|MESH:C537409|MedDRA:10060360|GARD:0001033|SCTID:65880007|DOID:14179|NCIT:C3822|UMLS:C0221026|OMIM:300755																		owl:Class
HGNC:1133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012689	biolink:NamedThing	premature ovarian failure 5	Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.	mondoexuq1wtf	primary ovarian failure caused by mutation in NOBOX|Pof5|premature ovarian failure 5|NOBOX primary ovarian failure|premature ovarian failure type 5											OMIM:611548|MESH:C566921|UMLS:C1969060																		owl:Class
HGNC:22448	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018756	biolink:NamedThing	euthyroid Graves orbitopathy		mondoexuq1wtf	euthyroid Graves ophthalmopathy					Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970						ICD10:H05.2|Orphanet:466682																		owl:Class
HGNC:8918	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009214	biolink:NamedThing	Fanconi anemia complementation group D2	Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.	mondoexuq1wtf	Fanconi pancytopenia, type 4|FANCD2|Fanconi Anemia, complementation group D|Fanconi pancytopenia type 4|FAD2|Fanconi anemia, complementation group D2|Fad2|FA4											NCIT:C125706|DOID:0111083|OMIM:227646|UMLS:C3160738																		owl:Class
HGNC:3585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020711	biolink:NamedThing	selective peripheral resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.	mondoexuq1wtf	PerRTH																													owl:Class
MONDO:0010660	biolink:NamedThing	intellectual disability, X-linked 9	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|mental retardation, X-linked type 9|FTSJ1 non-syndromic X-linked intellectual disability|mental retardation, X-linked 44|intellectual disability, X-linked 44|intellectual disability, X-linked 9|intellectual disability, X-linked type 9|mental retardation, X-linked 9|MRX9											UMLS:C0796215|MESH:C563137|OMIM:309549																		owl:Class
HGNC:13254	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007798	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001025	biolink:NamedThing	seminal vesicle chronic gonorrhea	Chronic form of gonococcal seminal vesiculitis.	mondoexuq1wtf	chronic gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, chronic											SCTID:23975003|UMLS:C0153205|ICD9:098.34|DOID:10399																		owl:Class
CL:0000623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008865	biolink:NamedThing	Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.	mondoexuq1wtf	Bietti's crystalline dystrophy|BCD|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline retinopathy|Bietti crystalline dystrophy|Bietti crystalline corneoretinal dystrophy											ICD10:H15.5|MESH:C535440|UMLS:C1859486|SCTID:312927001|OMIM:210370|DOID:0050664|GARD:0010050|Orphanet:41751														https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy				owl:Class
HGNC:23198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012200	biolink:NamedThing	posterior polymorphous corneal dystrophy 3	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	mondoexuq1wtf	Ppcd3|ZEB1 posterior polymorphous corneal dystrophy|corneal dystrophy, posterior polymorphous, type 3|PPCD3|corneal dystrophy, POSTERIOR polymorphous, 3|posterior polymorphous corneal dystrophy type 3|posterior polymorphous corneal dystrophy caused by mutation in ZEB1											MESH:C563788|UMLS:C1836724|ICD10:H18.50|OMIM:609141|DOID:0110857																		owl:Class
HGNC:11642	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044870	biolink:NamedThing	acquired torsion dystonia	An instance of torsion dystonia that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired torsion dystonia											SCTID:433493000|UMLS:C1719382																		owl:Class
HGNC:4883	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30032	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001480	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002400	biolink:NamedThing	synovitis	Inflammation of a synovial membrane.	mondoexuq1wtf	synovitis|inflammation of synovial membrane of synovial joint|Synovitides|synovitis (disease)|synovial membrane of synovial joint inflammation		synovitis (disease)									GARD:0007722|DOID:2703|SCTID:416209007|NCIT:C50766|MESH:D013585|HP:0100769|EFO:0008997																		owl:Class
HP:0000855	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013173	biolink:NamedThing	intellectual disability, autosomal recessive 13	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.	mondoexuq1wtf	mental retardation, autosomal recessive 13|intellectual disability, autosomal recessive 13|mental retardation, autosomal recessive type 13|intellectual disability, autosomal recessive type 13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|MRT13|TRAPPC9 autosomal recessive non-syndromic intellectual disability											OMIM:613192|MESH:C567714|UMLS:C2750791																		owl:Class
HGNC:30832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014310	biolink:NamedThing	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.	mondoexuq1wtf	poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|POIKTMP syndrome|hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|POIKTMP|hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome											UMLS:C3810325|Orphanet:221043|ICD10:Q82.8|OMIM:615704|GARD:0013218																		owl:Class
HGNC:24200	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0001673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002661	biolink:NamedThing	uveal disease	A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.	mondoexuq1wtf	disease or disorder of uvea|disorder of uveal tract|uveal diseases|uveal tract disease|disorder of uvea|disease of uvea|uvea disease or disorder|uveal disorder|uveal disease|uvea disease											DOID:3480|GARD:0008192|MESH:D014603|SCTID:95678007|NCIT:C26908|UMLS:C0042161																		owl:Class
UBERON:0000941	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014208	biolink:NamedThing	Charcot-Marie-Tooth disease type 2R	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|TRIM2 Charcot-Marie-Tooth disease type 2|CMT2R|Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2											Orphanet:397968|ICD10:G60.0|UMLS:C3809655|GARD:0012451|OMIM:615490|DOID:0110161														https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r				owl:Class
HGNC:15974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20661	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010498	biolink:NamedThing	MEND syndrome		mondoexuq1wtf	MEND|MEND syndrome|Male EBP disorder with neurological defects|Male EBP disorder with neurologic defects											UMLS:C4085243|Orphanet:401973|ICD10:Q87.8|OMIM:300960																		owl:Class
HGNC:3133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8847	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011963	biolink:NamedThing	Joubert syndrome 2	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	mondoexuq1wtf	CORS2|JBTS2|cerebellooculorenal syndrome 2|Joubert syndrome type 2|TMEM216 Joubert syndrome|Cerebellooculorenal syndrome 2|Joubert syndrome caused by mutation in TMEM216|Joubert syndrome 2											DOID:0110988|UMLS:C1842577|MESH:C536294|GARD:0010167|OMIM:608091														https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2				owl:Class
HGNC:25018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29168	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007349	biolink:NamedThing	familial cold autoinflammatory syndrome 1	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.	mondoexuq1wtf	Cryopyrin-associated periodic syndrome 1|Fcas|cold hypersensitivity|cold urticaria, familial|familial cold autoinflammatory syndrome caused by mutation in NLRP3|FCAS1|familial cold autoinflammatory syndrome 1|familial cold autoinflammatory syndrome type 1|NLRP3 familial cold autoinflammatory syndrome|cold-induced autoinflammatory syndrome, familial											ICD10:L50.2|SCTID:238687000|DOID:0090062|OMIM:120100																		owl:Class
HGNC:16400	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11503	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009705	biolink:NamedThing	carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.	mondoexuq1wtf	Carnitine Palmitoyltransferase 1A deficiency|carnitine palmitoyl transferase IA deficiency|CPT I deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|hepatic CPT1|Carnitine palmitoyltransferase 1A deficiency|CPT1A deficiency|carnitine palmitoyl transferase 1A deficiency|Carnitine Palmitoyltransferase 1 deficiency|L-CPTI deficiency|Carnitine palmitoyl transferase 1 deficiency|CPT1A disorder of carnitine cycle and carnitine transport|disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|CPT deficiency, hepatic, type 1|carnitine palmitoyltransferase I deficiency|CPT 1 deficiency|Carnitine palmitoyl transferase IA deficiency|hepatic CPT deficiency type I|hepatic carnitine palmitoyltransferase 1 deficiency|hepatic carnitine palmitoyl transferase I deficiency|L-CPT 1 deficiency|L-CPT1 deficiency					Editor note: consider adding sibling for CPT-1B						HGNC:2328|OMIM:255120|Orphanet:156|ICD10:E71.3|SCTID:238001003|DOID:0090129|NCIT:C98871|UMLS:C1829703|MESH:C535588|ICD9:277.85|GARD:0001120														https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency				owl:Class
HGNC:2328	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100121	biolink:NamedThing	SCN4A-related myopathy, autosomal recessive	Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.	mondoexuq1wtf	congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|congenital myopathy with severe fetal hypokinesia|myopathy with ptosis and mild dystrophic pattern											https://www.clinicalgenome.org/affiliation/40061/																		owl:Class
HP:0001558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012497	biolink:NamedThing	congenital stationary night blindness autosomal dominant 3	A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.	mondoexuq1wtf	Nougaret type congenital stationary night blindness|CSNBAD3|congenital stationary night blindness autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant 3|night blindness, congenital stationary, Nougaret type											UMLS:C1864870|DOID:0110715|MESH:C566475|OMIM:610444																		owl:Class
HGNC:4393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008153	biolink:NamedThing	progressive osseous heteroplasia	A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.	mondoexuq1wtf	familial ectopic ossification|poh|osseous heteroplasia, progressive|ectopic ossification familial type|ectopic ossification, familial|osteoma cutis											Orphanet:2762|UMLS:C0334041|GARD:0000109|ICD10:M61.5|OMIM:166350|MedDRA:10048902|DOID:0111535|SCTID:719271000|MESH:C562735														https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia				owl:Class
HGNC:4392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006894	biolink:NamedThing	patellofemoral pain syndrome	A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.	mondoexuq1wtf												MedDRA:10049143|UMLS:C0877149|DOID:14284|SCTID:430725003|MESH:D046788|EFO:1001092																		owl:Class
UBERON:0011166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005969	biolink:NamedThing	st. Louis encephalitis	A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)	mondoexuq1wtf	Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus caused infectious encephalitis|Saint Louis encephalitis|St. Louis encephalitis virus infectious encephalitis											MedDRA:10041896|SCTID:417607009|ICD9:062.3|EFO:0007495|Orphanet:83484|ICD10:A83.3|MESH:D004674|DOID:10845|UMLS:C0014060																		owl:Class
NCBITaxon:260963	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11796	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011610	biolink:NamedThing	dimethylglycine dehydrogenase deficiency	An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.	mondoexuq1wtf	dimethylglycine dehydrogenase activity disease|disorder of dimethylglycine dehydrogenase activity|DMGDH deficiency|Dmgdh deficiency|DMG dehydrogenase deficiency|DMGDHD|dimethylglycine dehydrogenase deficiency											Orphanet:243343|SCTID:719449007|ICD10:E72.5|OMIM:605850|UMLS:C1853892|MESH:C565278																		owl:Class
GO:0047865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:90	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005790	biolink:NamedThing	hepatitis A virus infection	Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.	mondoexuq1wtf	hepatitis type A|viral hepatitis A|Hepatitis A infection|Hepatitis A|viral hepatitis, type A											NCIT:C3096|DOID:12549|SCTID:40468003|UMLS:C0019159|MESH:D006506|EFO:0007305																		owl:Class
HP:0000952	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014767	biolink:NamedThing	Seckel syndrome 9	Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.	mondoexuq1wtf	Seckel syndrome type 9|TRAIP Seckel syndrome|Seckel syndrome caused by mutation in TRAIP|SCKL9|Seckel syndrome 9											OMIM:616777|DOID:0070005|UMLS:C4225212																		owl:Class
HGNC:30764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004496	biolink:NamedThing	myocarditis	Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.	mondoexuq1wtf	inflammation of myocardium|myocardium inflammation|myocardial inflammation (finding)|myocardial inflammation											MESH:D009205|ICD10:I40|SCTID:50920009|KEGG:05416|ICD9:429.0|UMLS:C0027059|NCIT:C34831|GARD:0007137|COHD:314383|ICD10:I51.4|DOID:820														https://rarediseases.info.nih.gov/diseases/7137/myocarditis				owl:Class
UBERON:0002349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018702	biolink:NamedThing	TAFRO syndrome	A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly	mondoexuq1wtf	Castleman-Kojima disease|thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome											ICD10:M35.8|UMLS:CN237773|Orphanet:457077																		owl:Class
HP:0001541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011138	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 1	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.	mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, type 1|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus, resistance to, 1|TLR5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, 1|SLEB1|systemic lupus erythematosus (disease) caused by mutation in TLR5											OMIM:601744																		owl:Class
MONDO:0013609	biolink:NamedThing	Meckel syndrome, type 10	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.	mondoexuq1wtf	Meckel syndrome caused by mutation in B9D2|MKS10|Meckel syndrome, type 10|JBTS34|Joubert syndrome 34|B9D2 Meckel syndrome											OMIM:614175|UMLS:CN620433|UMLS:C3280036|GTR:AN1012156|GTR:AN1012610																		owl:Class
HGNC:28636	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012003	biolink:NamedThing	autosomal recessive nonsyndromic deafness 39	An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 39|DFNB39|autosomal recessive deafness 39|HGF autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 39|deafness, autosomal recessive 39|autosomal recessive nonsyndromic deafness caused by mutation in HGF											MESH:C564265|OMIM:608265|ICD10:H90.3|UMLS:C1842342|NCIT:C129874|DOID:0110497																		owl:Class
HGNC:4893	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002368	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013390	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2Q	Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 2Q|limb-girdle muscular dystrophy type 2Q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|LGMD2Q											DOID:0110285|Orphanet:254361|UMLS:C3150989|OMIM:613723|GARD:0012542|ICD10:G71.0																		owl:Class
HGNC:9069	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000115	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017874	biolink:NamedThing	Argentine hemorrhagic fever	Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.	mondoexuq1wtf	Argentinian hemorrhagic fever|Junin hemorrhagic fever											ICD10:A96.0|SCTID:58868000|DOID:0050194|Orphanet:319223|UMLS:C0019097																		owl:Class
NCBITaxon:2169991	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014878	biolink:NamedThing	patent ductus arteriosus 2		mondoexuq1wtf	patent ductus arteriosus 2; PDA2|PDA2|patent ductus arteriosus 2|patent ductus arteriosus type 2											UMLS:C4284595|OMIM:617035																		owl:Class
HGNC:11743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000739	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004333	biolink:NamedThing	pancreatic ACTH-producing neuroendocrine tumor	A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.	mondoexuq1wtf	pancreatic ACTH producing NET|pancreatic ACTH producing neuroendocrine tumor|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH producing tumor|pancreatic ACTH hormone producing tumor|pancreatic ACTH-producing neuroendocrine tumor											ICDO:8158/1|NCIT:C27466|UMLS:C1335300|DOID:7697																		owl:Class
GO:0051458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009809	biolink:NamedThing	multicentric osteolysis, nodulosis, and arthropathy	A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.	mondoexuq1wtf	Torg-Winchester syndrome, formerly|Torg-Winchester syndrome|multicentric osteolysis, nodulosis, and arthropathy|nodulosis-arthropathy-osteolysis syndrome|osteolysis, hereditary multicentric|NAO syndrome|Al-Aqeel Sewairi syndrome|mona|Torg syndrome											OMIM:259600|NCIT:C123437																		owl:Class
HGNC:7166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013756	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal recessive, 2	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.	mondoexuq1wtf	hypertrophic osteoarthropathy, primary, autosomal recessive, 2|PHOAR2|PDP, autosomal recessive|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|pachydermoperiostosis, autosomal recessive|SLCO2A1 primary hypertrophic osteoarthropathy											OMIM:614441|UMLS:C3280800																		owl:Class
HGNC:10955	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013513	biolink:NamedThing	atrial fibrillation, familial, 9	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.	mondoexuq1wtf	atrial fibrillation, familial, 9|atrial fibrillation, familial, type 9|KCNJ2 familial atrial fibrillation|familial atrial fibrillation caused by mutation in KCNJ2|ATFB9											OMIM:613980|UMLS:C3151431																		owl:Class
HGNC:6263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019668	biolink:NamedThing	adenoma of pancreas		mondoexuq1wtf	pancreatic adenoma|adenoma of the pancreas											GARD:0004204|MESH:C538110|Orphanet:93292|MedDRA:10058902|UMLS:C4076724|UMLS:C1142432|SCTID:208061000119101|ICD10:D13.6																		owl:Class
MONDO:0011459	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 5	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.	mondoexuq1wtf	ARVD5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia, familial, type 5|ARVC5|arrhythmogenic right ventricular dysplasia, familial, 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 5|arrhythmogenic right ventricular cardiomyopathy 5											DOID:0110074|UMLS:C1858379|MESH:C565776|ICD10:I42.8|OMIM:604400																		owl:Class
HGNC:28472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001744	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011137	biolink:NamedThing	retinitis pigmentosa 19	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.	mondoexuq1wtf	retinitis pigmentosa type 19|retinitis pigmentosa caused by mutation in ABCA4|RP 19|RP19|retinitis pigmentosa 19|ABCA4 retinitis pigmentosa											UMLS:C1866422|GARD:0010398|MESH:C566637|OMIM:601718|DOID:0110354|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19				owl:Class
HGNC:34	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045019	biolink:NamedThing	lactation disease		mondoexuq1wtf	disorder of lactation|lactation disease											SCTID:35046003|UMLS:C0022927																		owl:Class
GO:0007595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009916	biolink:NamedThing	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.	mondoexuq1wtf	17-ketosteroidreductase deficiency|pseudohermaphroditism, Male, with gynecomastia|17 alpha KSR deficiency|17-Beta hydroxysteroid dehydrogenase 3 deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17-ketoreductase deficiency|Male pseudoherma-phroditism with gynecomastia|neutral 17 beta hydroxysteroid oxidoreductase deficiency|Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|17 alpha ketosteroid reductase deficiency of testis|17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17-ketosteroid reductase deficiency of testis|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17-KSR deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|17 beta HSD3 deficiency|17 Beta HSD3 deficiency											OMIM:264300|MESH:C537805|ICD10:E29.1|MESH:C564868|GARD:0005659|SCTID:50658006|NCIT:C120203|Orphanet:752																		owl:Class
GO:0047045	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017800	biolink:NamedThing	pseudo-Meigs syndrome		mondoexuq1wtf	pseudo-Demons-Meigs syndrome											Orphanet:314459|ICD10:D27|UMLS:CN203759																		owl:Class
MONDO:0009393	biolink:NamedThing	ornithine translocase deficiency	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.	mondoexuq1wtf	HHHS|HHH syndrome|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|triple H syndrome|ornithine translocase deficiency syndrome|ORNT1 deficiency|ornithine translocase deficiency|HHH|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|Hhh syndrome|ornithine carrier deficiency											SCTID:30287008|DOID:0050720|ICD10:E72.4|UMLS:C0268540|Orphanet:415|GARD:0002830|NCIT:C129029|MESH:C538380|OMIM:238970																		owl:Class
HGNC:10985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044627	biolink:NamedThing	acute macular neuroretinopathy		mondoexuq1wtf	AMNR											Orphanet:488239																		owl:Class
MONDO:0010343	biolink:NamedThing	Asperger syndrome, X-linked, susceptibility to, 2		mondoexuq1wtf	ASPERGER syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, 2|ASPGX2|Asperger syndrome, X-linked, susceptibility to, type 2|susceptibility to X-linked asperger syndrome 2											OMIM:300497																		owl:Class
MONDO:0014465	biolink:NamedThing	primary ciliary dyskinesia 30	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.	mondoexuq1wtf	CCDC151 primary ciliary dyskinesia|CILD30|ciliary dyskinesia, primary, 30, with or without situs inversus|primary ciliary dyskinesia 30 without situs inversus|ciliary dyskinesia, primary, type 30|primary ciliary dyskinesia caused by mutation in CCDC151|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia type 30											ICD10:Q34.8|DOID:0110624|OMIM:616037|UMLS:C4015016																		owl:Class
HGNC:28303	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019985	biolink:NamedThing	drug-related renal tubular dysgenesis		mondoexuq1wtf												Orphanet:97368|ICD10:Q63.8																		owl:Class
MONDO:0011972	biolink:NamedThing	ovarian hyperstimulation syndrome	A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.	mondoexuq1wtf	OHSS|secondary Meig's syndrome|ovarian hyperstimulation syndrome|ovarian hyperstimulation syndrome, familial gestational spontaneous											SCTID:129635004|MESH:D016471|UMLS:C0085083|MedDRA:10033266|ICD10:N98.1|ICD9:256.1|Orphanet:64739|DOID:5425|OMIM:608115																		owl:Class
HGNC:29	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006688	biolink:NamedThing	byssinosis	An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.	mondoexuq1wtf	cotton dust pneumoconiosis|stripper's asthma|flax-dressers' disease|cotton mill fever|pneumoconiosis from cotton dust|Monday morning fever											SCTID:13151001|ICD10:J66.0|DOID:10323|MedDRA:10006822|UMLS:C0006542|UMLS:C2242894|ICD9:504|EFO:1000851|GARD:0005976|NCIT:C84605|MESH:D002095														https://rarediseases.info.nih.gov/diseases/5976/byssinosis				owl:Class
ENVO:02000108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003899	biolink:NamedThing	adult myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in adults.	mondoexuq1wtf	myxoid chondrosarcoma of adults|adult myxoid chondrosarcoma											NCIT:C27378|UMLS:C1332209|DOID:6495																		owl:Class
MONDO:0001594	biolink:NamedThing	Achilles bursitis	An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.	mondoexuq1wtf	capped hock|Haglund's disease|Haglund's deformity|Achilles bursitis or tendinitis											COHD:439524|DOID:12857|ICD9:726.71|ICD10:M76.6|UMLS:C0149846																		owl:Class
UBERON:0003701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000492	biolink:NamedThing	chronic venous insufficiency	Chronic form of venous insufficiency (disease).	mondoexuq1wtf	venous insufficiency (disease), chronic|chronic venous insufficiency (disease)											DOID:0050853|UMLS:C1306557|EFO:0007940																		owl:Class
HGNC:26530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2488	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012843	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 5	Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.	mondoexuq1wtf	ECA5|childhood absence epilepsy caused by mutation in GABRB3|epilepsy, childhood absence, susceptibility to, 5|GABRB3 childhood absence epilepsy|susceptibility to childhood absence epilepsy 5|epilepsy, childhood absence, susceptibility to, type 5											OMIM:612269																		owl:Class
MONDO:0010826	biolink:NamedThing	childhood absence epilepsy	Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.	mondoexuq1wtf	pyknolepsy|petit mal seizure|absence seizure											ICD10:G40.3|Orphanet:64280|OMIMPS:600131|DOID:1825|SCTID:50866000|ICD10:G40.A																		owl:Class
HGNC:9086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021018	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.	mondoexuq1wtf	autosomal dominant limb-girdle muscular dystrophy type 1D|LGMD1D (DNAJB6)|muscular dystrophy, limb-girdle, type 1D|LGMD1E (Bushby and Beckmann, 2003)|LGMD1E|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|muscular dystrophy limb-girdle type 1D|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1D|limb-girdle muscular dystrophy type 1D|muscular dystrophy, limb-girdle, type 1D, formerly|autosomal dominant limb-girdle muscular dystrophy type 1E|muscular dystrophy, limb-girdle, type 1E|muscular dystrophy limb-girdle type 1E					Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3						ICD10:G71.0|DOID:0110305|Orphanet:34516|MESH:C566370|OMIM:603511|UMLS:C3501858|GARD:0012528																		owl:Class
HGNC:14888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012981	biolink:NamedThing	hereditary spherocytosis type 4	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.	mondoexuq1wtf	SLC4A1 hereditary spherocytosis|hereditary spherocytosis 4|hereditary spherocytosis caused by mutation in SLC4A1|HS4|spherocytosis, type 4|spherocytosis, hereditary, 4|SPH4											UMLS:C2675212|DOID:0110919|OMIM:612653|MESH:C567208																		owl:Class
HGNC:11027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2501931	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005971	biolink:NamedThing	staphyloenterotoxemia	Food poisoning that is caused by Staphylococcal infection.	mondoexuq1wtf	staphylococcal food poisoning|staphylococcal toxaemia due to food|staphyloenterotoxicosis											MESH:D013202|ICD9:005.0|UMLS:C0038159|EFO:0007497|NCIT:C35037|GARD:0009559|DOID:96|ICD10:A05.0|SCTID:84622004																		owl:Class
HP:0001324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022851	biolink:NamedThing	Dennis-Fairhurst-Moore syndrome	A severe form of Hallermann-Streiff syndrome, observed in one family.	mondoexuq1wtf	Hallermam Streiff like syndrome|Dennis Fairhurst Moore syndrome											Orphanet:2109|GARD:0000290|MESH:C538210														https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome				owl:Class
MONDO:0009318	biolink:NamedThing	Hallermann-Streiff syndrome	Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.	mondoexuq1wtf	François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Hallermann Streiff Francois syndrome|Hallermann's syndrome|Hallermann-Streiff syndrome|Francois dyscephalic syndrome|Hallermann syndrome|Hallermann Streiff syndrome|oculomandibulofacial syndrome|Hallerman - Streiff syndrome|HSS											OMIM:234100|NCIT:C84746|UMLS:C0018522|ICD10:Q87.0|MESH:D006210|SCTID:7903009|Orphanet:2108|GARD:0000288|DOID:4534														https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome				owl:Class
MONDO:0014766	biolink:NamedThing	leukodystrophy and acquired microcephaly with or without dystonia;		mondoexuq1wtf	leukodystrophy and acquired microcephaly with or without dystonia|LDAMD											UMLS:C4225213|OMIM:616763																		owl:Class
HGNC:29515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013936	biolink:NamedThing	peroxisome biogenesis disorder 6A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder 6A (Zellweger)|PBD6A|peroxisome biogenesis disorder, complementation group 7|peroxisome biogenesis disorder, complementation group B											OMIM:614870|DOID:0080481|MESH:C566422|UMLS:C3553947|NCIT:C155758														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100356	biolink:NamedThing	classic presentation	A severe form of a genetic disease.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3221				owl:Class
MONDO:0011412	biolink:NamedThing	familial encephalopathy with neuroserpin inclusion bodies		mondoexuq1wtf	FENIB|encephalopathy, familial, with Collins bodies|encephalopathy, familial, with neuroserpin inclusion bodies											DOID:0050831|OMIM:604218|SCTID:702421006|ICD10:G31.8|ICD9:348.39|MESH:C536841|Orphanet:85110|GARD:0010037|UMLS:C1858680														https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies				owl:Class
HGNC:8943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012670	biolink:NamedThing	autosomal recessive nonsyndromic deafness 63	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.	mondoexuq1wtf	autosomal recessive deafness 63|DFNB63|autosomal recessive nonsyndromic deafness type 63|deafness, autosomal recessive 63|LRTOMT autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT|deafness, autosomal recessive type 63											MESH:C566951|ICD10:H90.3|UMLS:C1969621|DOID:0110515|OMIM:611451																		owl:Class
HGNC:25033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008082	biolink:NamedThing	multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.	mondoexuq1wtf	men type 2B|mucosal neuroma syndrome|multiple endocrine neoplasia, type III, formerly|multiple endocrine neoplasia type 2B|multiple endocrine neoplasia, type 3|men 2B|men IIB|MEN2B|multiple endocrine neoplasia, type 2B|multiple endocrine neoplasia, type IIB|mucosal Neuroma syndrome|multiple endocrine adenomatosis type IIB|men type IIB|multiple endocrine neoplasia type 3|multiple endocrine neoplasia, type 3 (formerly)|Wagenmann-Froboese syndrome|multiple endocrine neoplasia type IIB|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia, type III|multiple endocrine neoplasia type III											UMLS:C0025269|MESH:D018814|ICD10:E31.23|ICD9:258.03|MedDRA:10056420|GARD:0010225|SCTID:61530001|DOID:10016|NCIT:C3227|Orphanet:247709|OMIM:162300|ICD9:237.4|ICD10:D44.8														https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b				owl:Class
MONDO:0020490	biolink:NamedThing	mosaic trisomy 9	Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	Mosaic trisomy type 9|trisomy 9 mosaicism|Mosaic trisomy chromosome 9											SCTID:764989007|Orphanet:99776|ICD10:Q92.1|MESH:C535454|UMLS:CN035918|GARD:0000043														https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9				owl:Class
MONDO:0700062	biolink:NamedThing	mosaic	A disease characteristic in which the cause of the disease is present in some of the cells of the organism.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
UBERON:0002364	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008399	biolink:NamedThing	sarcoidosis, susceptibility to, 1	Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.	mondoexuq1wtf	Boeck sarcoid|sarcoidosis, susceptibility to, 1|SS1|HLA-DRB1 sarcoidosis|sarcoidosis, susceptibility to, type 1|sarcoidosis|sarcoidosis caused by mutation in HLA-DRB1|susceptibility to sarcoidosis 1											ICD9:135|OMIM:181000																		owl:Class
HGNC:4948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043494	biolink:NamedThing	arteritis	An inflammatory process affecting an artery.	mondoexuq1wtf	Inflammation, arterial|Arteritides|arterial Inflammation|inflammation of artery|artery inflammation|arteritis											MESH:D001167|NCIT:C34399|HP:0012089|SCTID:52089001|EFO:0009011																		owl:Class
UBERON:0001637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020176	biolink:NamedThing	palpebral sebaceous gland tumor	A neoplasm (disease) that involves the sebaceous gland of eyelid.	mondoexuq1wtf	sebaceous gland of eyelid neoplasm (disease)|neoplasm of sebaceous gland of eyelid|sebaceous gland of eyelid tumor|tumor of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm											Orphanet:98585|UMLS:CN207036																		owl:Class
UBERON:0013231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005663	biolink:NamedThing	Barre-Lieou syndrome	A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.	mondoexuq1wtf	Cervicocranial syndrome|posterior cervical sympathetic syndrome											NCIT:C34411|COHD:81660|SCTID:17300000|MESH:D055010|ICD10:M53.0|ICD9:723.2|DOID:6692|UMLS:C2355645|EFO:0007165|UMLS:C0376378																		owl:Class
HP:0012393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011025	biolink:NamedThing	Cayman type cerebellar ataxia	Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.	mondoexuq1wtf	Cayman cerebellar ataxia|cerebellar ataxia, CAYMAN type|cerebellar ataxia, Cayman type|ATCAY|Cayman ataxia											DOID:0060694|UMLS:C1832585|ICD10:G11.0|SCTID:717332007|Orphanet:94122|OMIM:601238|MESH:C563363																		owl:Class
HGNC:779	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6833	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009617	biolink:NamedThing	microcephaly 1, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.	mondoexuq1wtf	premature chromosome condensation syndrome|PCC syndrome|premature chromosome condensation with microcephaly and intellectual disability|premature chromosome condensation with microcephaly and mental retardation|MCPH1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in MCPH1|MCPH1|microcephaly 1, primary, autosomal recessive											DOID:0070285|MESH:C565384|OMIM:251200|Orphanet:52183|UMLS:C1855081																		owl:Class
HGNC:6954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012401	biolink:NamedThing	congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.	mondoexuq1wtf	corneal dystrophy, congenital stromal|congenital hereditary stromal dystrophy|CSCD|congenital stromal corneal dystrophy|Witschel dystrophy											MESH:C566452|ICD9:371.56|Orphanet:101068|DOID:0060445|OMIM:610048|ICD10:H18.5|UMLS:C1864738|SCTID:702359002																		owl:Class
HGNC:2705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005991	biolink:NamedThing	trench fever	An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.	mondoexuq1wtf	tibialgic fever|Wolhynian fever|Bartonella quintana disease or disorder|trench fever|His-Werner disease|fevers, trench|quintan fever|Bartonella quintana caused disease or disorder|bartonellosis due to Bartonella quintana infection|trench fevers|fever, trench|shin bone fever|Bartonella quintana infectious disease											ICD9:083.1|EFO:0007519|Orphanet:64694|MESH:D014205|UMLS:C0040830|DOID:11101|SCTID:82214002|ICD10:A79.0|MedDRA:10044582																		owl:Class
NCBITaxon:121224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011879	biolink:NamedThing	neuronopathy, distal hereditary motor, type 7B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.	mondoexuq1wtf	Lower motor neuron disease, dynactin type|neuronopathy, distal hereditary motor caused by mutation in DCTN1|neuropathy, distal hereditary motor, type 7B|neuronopathy, distal hereditary motor, type VIIB|HMN7B|Dhmn7B|DCTN1 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|HMN 7B											OMIM:607641|DOID:0111202|MESH:C564362|UMLS:C1843315																		owl:Class
HGNC:2711	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015760	biolink:NamedThing	T-cell non-Hodgkin lymphoma	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003	mondoexuq1wtf	T cell lymphoma|T-cell non-Hodgkin's lymphoma|T-cell and NK-cell non-Hodgkin's lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell lymphoma|T-cell NHL|non-Hodgkin's T-cell lymphoma|T-cell non-Hodgkin lymphoma											ICD9:202.70|MESH:D016399|UMLS:C0079772|MedDRA:10042971|SCTID:109978004|Orphanet:171918|NCIT:C3466																		owl:Class
CL:0000084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007723	biolink:NamedThing	Hirschsprung disease, susceptibility to, 1	Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.	mondoexuq1wtf	megacolon, aganglionic|Hirschsprung disease caused by mutation in RET|HSCR1|Hirschsprung disease|Hirschsprung disease, protection against|RET Hirschsprung disease|Hirschsprung disease, susceptibility to, 1|aganglionic megacolon|susceptibility to Hirschsprung disease 1|Hirschsprung disease, susceptibility to, type 1											UMLS:C2931876|OMIM:142623																		owl:Class
HGNC:12805	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004514	biolink:NamedThing	chronic rhinitis	Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.	mondoexuq1wtf	rhinitis, chronic|rhinitis - chronic											NCIT:C34479|ICD9:472.0|DOID:8252|SCTID:86094006|ICD10:J31.0|COHD:259848|UMLS:C0008711																		owl:Class
MONDO:0005802	biolink:NamedThing	hymenolepiasis	A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.	mondoexuq1wtf	Hymenolepsis infection|hymenolepiasis|dwarf tapeworm infection|Hymenolepis infectious disease											UMLS:C0020413|ICD9:123.6|NCIT:C84768|SCTID:44917000|MedDRA:10020546|ICD10:B71.0|MESH:D006925|GARD:0002787|DOID:10074|UMLS:C0277045|Orphanet:401|EFO:0007317														https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis				owl:Class
MONDO:0006271	biolink:NamedThing	low grade central osteosarcoma	A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.	mondoexuq1wtf	intraosseous well-differentiated osteogenic sarcoma|low grade central osteosarcoma|intraosseous well-differentiated osteosarcoma|low grade intramedullary osteosarcoma|low-grade central osteosarcoma|low-grade intramedullary osteosarcoma											ICDO:9187/3|UMLS:C3814534|EFO:1000327|UMLS:C1266163|NCIT:C6474|ONCOTREE:LGCOS																		owl:Class
MONDO:0024533	biolink:NamedThing	pulmonary hypertension, primary, 1	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.	mondoexuq1wtf	primary pulmonary hypertension caused by mutation in BMPR2|pulmonary hypertension, primary, Fenfluramine-associated|pulmonary hypertension, primary, 1|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|Pph1 with Hht|PHT|pulmonary hypertension, primary, Dexfenfluramine-associated|BMPR2 primary pulmonary hypertension|PPH1|pulmonary arterial hypertension											OMIM:178600																		owl:Class
HGNC:1078	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009227	biolink:NamedThing	myofibromatosis, infantile, 1	Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.	mondoexuq1wtf	myofibromatosis caused by mutation in PDGFRB|myofibromatosis, infantile, type 1|myofibromatosis, juvenile|PDGFRB myofibromatosis|myofibromatosis, infantile, 1|fibromatosis, congenital generalized|IMF1											MESH:C562978|ICD9:756.9|OMIM:228550|SCTID:254146000																		owl:Class
HGNC:8804	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:854	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001981	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013403	biolink:NamedThing	heterotaxy, visceral, 4, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.	mondoexuq1wtf	heterotaxy, visceral, 4, autosomal|ACVR2B visceral heterotaxy|HTX4|visceral heterotaxy caused by mutation in ACVR2B											UMLS:C3151057|OMIM:613751																		owl:Class
HGNC:174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012586	biolink:NamedThing	coronary artery disease, autosomal dominant 2	Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.	mondoexuq1wtf	coronary artery disease, autosomal dominant 2|LRP6 coronary artery disease|ADCAD2|coronary artery disease caused by mutation in LRP6|coronary artery disease, autosomal dominant type 2											UMLS:C1970440|MESH:C567045|OMIM:610947																		owl:Class
HGNC:6698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8574	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017059	biolink:NamedThing	neural tube closure defect	A disease that has its basis in the disruption of neural tube closure.	mondoexuq1wtf	disorder of neural tube closure|neural tube closure disease											Orphanet:268357																		owl:Class
GO:0001843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4516	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012796	biolink:NamedThing	retinitis pigmentosa 41	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.	mondoexuq1wtf	RP 41|retinitis pigmentosa 41|retinitis pigmentosa type 41|retinal Degeneration, autosomal recessive, prominin-related|PROM1 retinitis pigmentosa|RP41|retinitis pigmentosa caused by mutation in PROM1											ICD10:H35.5|UMLS:C2677516|OMIM:612095|DOID:0110376|GARD:0010379|MESH:C567422														https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41				owl:Class
HGNC:9454	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0034212	biolink:NamedThing	methotrexate toxicity		mondoexuq1wtf												Orphanet:565782																		owl:Class
CHEBI:44185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14539	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012969	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 5	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.	mondoexuq1wtf	microvascular complications of diabetes, susceptibility to, type 5|microvascular complications of diabetes, susceptibility to, 5|retinopathy, diabetic, susceptibility to|MVCD5|microvascular complications of diabetes, susceptibility caused by mutation in PON1|PON1 microvascular complications of diabetes, susceptibility											OMIM:612633																		owl:Class
HGNC:9204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044723	biolink:NamedThing	3-methylglutaconic aciduria type 8		mondoexuq1wtf	3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII|MGCA8|3-Methylglutaconic aciduria, type 8|MGA8|3-methylglutaconic aciduria, type VIII; MGCA8|3-methylglutaconic aciduria type VIII											UMLS:C4310650|Orphanet:505208|DOID:0070000|OMIM:617248																		owl:Class
HGNC:14348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001810	biolink:NamedThing	hypoglossal nerve disease	A disease involving the hypoglossal nerve.	mondoexuq1wtf	disease or disorder of hypoglossal nerve|hypoglossal nerve disease or disorder|twelfth nerve disorder|disorder of hypoglossal [12th] nerve|disorder of XII nerve|hypoglossal nerve disorder|disorder of hypoglossal nerve|hypoglossal nerve disease|disease of hypoglossal nerve|disorder of 12th nerve|disorder of the XII nerve											ICD9:352.5|NCIT:C26954|ICD10:G52.3|DOID:13814|SCTID:24777009|MESH:D020437|UMLS:C0152181|COHD:435537																		owl:Class
UBERON:0001650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009277	biolink:NamedThing	glaucoma 3A	An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.	mondoexuq1wtf	glaucoma, primary open angle, adult-onset|Primary Congenital glaucoma 3A|simple buphthalmos|glaucoma 3, primary congenital, type a|glaucoma, primary open angle, juvenile-onset|glaucoma 3, primary congenital, A|buphthalmos|GLC3A|glaucoma, congenital					Editor note: check DO placement						NCIT:C148260|DOID:11211|OMIM:231300|ICD9:743.21																		owl:Class
HGNC:2597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012979	biolink:NamedThing	primary ciliary dyskinesia 12	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.	mondoexuq1wtf	RSPH9 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in RSPH9|ciliary dyskinesia, primary, 12|CILD12|ciliary dyskinesia, primary, type 12|primary ciliary dyskinesia 12 without situs inversus|primary ciliary dyskinesia type 12|ciliary dyskinesia, primary, 12, without situs inversus											OMIM:612650|DOID:0110601|MESH:C567211|UMLS:C2675228|ICD10:Q34.8																		owl:Class
HGNC:21057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014236	biolink:NamedThing	Ehlers-Danlos syndrome, musculocontractural type 2	Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.	mondoexuq1wtf	Ehlers-Danlos syndrome, musculocontractural type 2|DSE Ehlers-Danlos syndrome, musculocontractural type|EDSMC2|Ehlers-Danlos syndrome, musculocontractural type, 2|Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE											UMLS:C3809845|OMIM:615539																		owl:Class
HGNC:21144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013953	biolink:NamedThing	immunodeficiency 28	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.	mondoexuq1wtf	primary immunodeficiency disease caused by mutation in IFNGR2|immunodeficiency 28, Mycobacteriosis|IFNGR2 primary immunodeficiency disease|immunodeficiency type 28|Ifngr2 deficiency|IMD28|immunodeficiency 28											OMIM:614889|UMLS:C4013947																		owl:Class
HGNC:5440	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019209	biolink:NamedThing	Japanese encephalitis	A disease due to a virus transmitted by an arthropod).	mondoexuq1wtf	JE|Japanese B encephalitis											ICD9:062.0|ICD10:A83.0|GARD:0006797|UMLS:C0014057|NCIT:C34577|DOID:10844|SCTID:52947006|Orphanet:79139|MESH:D004672|MedDRA:10014596|EFO:0007332														https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis				owl:Class
MONDO:0002543	biolink:NamedThing	adult oligodendroglioma	An oligodendroglioma occurring during adulthood.	mondoexuq1wtf	adult brain oligodendroglioma|grade II adult oligodendroglial tumor|adult oligodendroglioma|oligodendroglioma|oligodendroglioma of adults											DOID:3186|UMLS:C0279070|NCIT:C4014																		owl:Class
HGNC:5394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003011	biolink:NamedThing	mucinous tubular and spindle renal cell carcinoma	A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.	mondoexuq1wtf	carcinoma, renal, tubular, malignant|mucinous tubular and spindle cell renal carcinoma|mucinous tubular and spindle cell carcinoma of the kidney|renal mucinous tubular spindle cell carcinoma											ICD10:C64|Orphanet:319322|DOID:4472|NCIT:C39807|UMLS:C1513719|ICDO:0000/0|UMLS:CN203939|ONCOTREE:MTSCC|SCTID:764990003																		owl:Class
UBERON:0004810	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001474	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013371	biolink:NamedThing	dilated cardiomyopathy 1U	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.	mondoexuq1wtf	cardiomyopathy, dilated, type 1U|PSEN1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|cardiomyopathy, dilated, 1U|dilated cardiomyopathy type 1U|CMD1U											UMLS:C3160720|DOID:0110455|OMIM:613694|ICD10:I42.0|MESH:C566296																		owl:Class
HGNC:9508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:697	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012602	biolink:NamedThing	autosomal recessive nonsyndromic deafness 24	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.	mondoexuq1wtf	DFNB24|deafness, autosomal recessive type 24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 24|deafness, autosomal recessive 24|autosomal recessive nonsyndromic deafness caused by mutation in RDX|autosomal recessive deafness 24											UMLS:C1970239|ICD10:H90.3|DOID:0110482|MESH:C567027|OMIM:611022																		owl:Class
HGNC:9944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7881	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005664	biolink:NamedThing	bartonellosis	An infectious disease produced by bacteria of the genus Bartonella.	mondoexuq1wtf	Rochalimaea infections|Rochalimaea infection (disorder)|Bartonella disease or disorder|bartonelliasis|Bartonella infectious disease|Bartonella infection|Bartonella caused disease or disorder|Rochalimaea infection											EFO:0007166|DOID:11102|MESH:D001474|ICD10:A44.9|SCTID:266123003|COHD:440330|ICD10:A44|ICD9:088.0|UMLS:C0004771|NCIT:C84586																		owl:Class
NCBITaxon:773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014358	biolink:NamedThing	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		mondoexuq1wtf	autosomal dominant intellectual disability 25|Xia-Gibbs syndrome|autosomal dominant mental retardation 25|MRD25|mental retardation, autosomal dominant 25|intellectual disability, autosomal dominant 25											OMIM:615829|UMLS:C4014419|EFO:0009015|ICD10:Q87.8|DOID:0070055|Orphanet:412069																		owl:Class
HGNC:25230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014075	biolink:NamedThing	cataract 39 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.	mondoexuq1wtf	early-onset non-syndromic cataract caused by mutation in CRYGB|CTRCT39|cataract 39, multiple types|CRYGB early-onset non-syndromic cataract|autosomal dominant cataract 39 multiple types											OMIM:615188|UMLS:C3808800|DOID:0110236|ICD10:Q12.0																		owl:Class
HGNC:2409	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014819	biolink:NamedThing	autosomal dominant Robinow syndrome 3	Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.	mondoexuq1wtf	DRS3|Robinow syndrome, autosomal dominant 3|DVL3 Robinow syndrome|autosomal dominant Robinow syndrome type 3|Robinow syndrome caused by mutation in DVL3|Robinow syndrome, autosomal dominant type 3											OMIM:616894|UMLS:C4225164|DOID:0060767|ICD10:Q87.1																		owl:Class
HGNC:3087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016525	biolink:NamedThing	familial hyperaldosteronism	Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.	mondoexuq1wtf	genetic hyperaldosteronism|FH|hereditary hyperaldosteronism											MESH:C580087|SCTID:703231005|ICD10:E26.0|Orphanet:371861|NCIT:C127160|OMIMPS:103900|UMLS:CN229602|UMLS:C3713420|Orphanet:235936																		owl:Class
MONDO:0014615	biolink:NamedThing	trichothiodystrophy 2, photosensitive		mondoexuq1wtf	TTD2|trichothiodystrophy 2, photosensitive											OMIM:616390|UMLS:C4225344																		owl:Class
HGNC:3435	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17327	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013291	biolink:NamedThing	glycogen storage disease XV	Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.	mondoexuq1wtf	glycogenosis type 15|glycogen storage disease XV|GSD15|GSD with severe cardiomyopathy due to glycogenin deficiency|GSD type 15|glycogen storage disease 15|glycogen storage disease type XV|glycogen storage disease type 15|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|Gyg1 deficiency|glycogenin deficiency|GSD type XV|GSD 15|glycogenosis type XV|glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency											ICD10:E74.0|SCTID:717821004|OMIM:613507|DOID:0050579|UMLS:C3150754|Orphanet:263297																		owl:Class
HGNC:4699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018160	biolink:NamedThing	hereditary retinoblastoma	An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	mondoexuq1wtf	RB1|hereditary retinoblastoma|familial retinoblastoma											NCIT:C8495|DOID:4648|Orphanet:357027|ICD10:C69.2|OMIM:180200														https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526				owl:Class
HGNC:9884	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011817	biolink:NamedThing	coronary heart disease, susceptibility to, 1	Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.	mondoexuq1wtf	coronary artery disease caused by mutation in CX3CR1|coronary heart disease, susceptibility to, type 1|coronary heart disease, susceptibility to, 1|Chds1|CX3CR1 coronary artery disease											UMLS:C1846418|OMIM:607339																		owl:Class
HGNC:2558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014815	biolink:NamedThing	intellectual disability, autosomal recessive 52	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.	mondoexuq1wtf	mental retardation, autosomal recessive type 52|mental retardation, autosomal recessive 52|intellectual disability, autosomal recessive type 52|LMAN2L autosomal recessive non-syndromic intellectual disability|MRT52|intellectual disability, autosomal recessive 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L											UMLS:C4225168|OMIM:616887																		owl:Class
HGNC:19263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009503	biolink:NamedThing	pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.	mondoexuq1wtf	2-oxoglutarate complex deficiency|diaphorase deficiency|pyruvate dehydrogenase complex component E3 deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|PDHXD|pyruvate dehydrogenase E3-binding PROTEIN deficiency|dihydrolipoyl dehydrogenase deficiency|pyruvate dehydrogenase E3-binding protein deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|lipoamide dehydrogenase deficiency|pyruvate dehydrogenase protein X component deficiency|Glycine cleavage system L protein deficiency											OMIM:245349|Orphanet:255182|ICD10:E74.4|UMLS:C1855553																		owl:Class
HGNC:21350	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013866	biolink:NamedThing	neuronal ceroid lipofuscinosis 11	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.	mondoexuq1wtf	neuronal ceroid lipofuscinosis type 11|Grn neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 11|neuronal ceroid lipofuscinosis caused by mutation in Grn|CLN11 disease|ceroid lipofuscinosis, neuronal, type 11|GRN neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in GRN|CLN11											UMLS:C3539123|ICD10:E75.4|OMIM:614706|Orphanet:314629|DOID:0110732																		owl:Class
HGNC:4601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022398	biolink:NamedThing	aglossia and situs inversus	A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.	mondoexuq1wtf						Editor note: check relationship to MONDO:0008740						GARD:0009211														https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus				owl:Class
MONDO:0010029	biolink:NamedThing	situs inversus	A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).	mondoexuq1wtf	complete situs inversus viscerum|situs inversus|complete situs inversus|complete transposition (morphologic abnormality)|HTX5|situs ambiguus|laterality sequence|situs inversus viscerum|SIV|situs inversus totalis (disease)|situs inversus totalis|heterotaxy, visceral, 5, autosomal											OMIM:270100|ICD10:Q89.3|SCTID:24614000|Orphanet:101063|NCIT:C87121|GARD:0004883|ICD9:759.3|DOID:758|COHD:193306|MESH:D012857|HP:0001696|ICD9:759.89																		owl:Class
MONDO:0012664	biolink:NamedThing	spastic ataxia 3	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.	mondoexuq1wtf	autosomal recessive spastic ataxia caused by mutation in MARS2|autosomal recessive spastic ataxia type 3|spastic ataxia type 3|autosomal recessive spastic ataxia with leukoencephalopathy|MARS2 autosomal recessive spastic ataxia|SPAX3|ARSAL|spastic ataxia 3, autosomal recessive											UMLS:C1969645|OMIM:611390|MESH:C566956|UMLS:CN230089|DOID:0050942|Orphanet:314603|ICD10:G11.4																		owl:Class
MONDO:0012866	biolink:NamedThing	hereditary spastic paraplegia 35	Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	mondoexuq1wtf	spastic paraplegia 35, autosomal recessive|autosomal recessive spastic paraplegia type 35|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|hereditary spastic paraplegia caused by mutation in FA2H|SPG35|FA2H hereditary spastic paraplegia|autosomal recessive spastic paraplegia 35|hereditary spastic paraplegia type 35											SCTID:764688002|OMIM:612319|Orphanet:171629|UMLS:C3496228|ICD10:G11.4|DOID:0110786|MESH:C567311																		owl:Class
HGNC:21197	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1268	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:162997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013204	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 4	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.	mondoexuq1wtf	SLC4A11 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|corneal dystrophy, Fuchs endothelial, 4|corneal dystrophy, Fuchs endothelial, type 4|FECD4|corneal dystrophy, Fuchs endothelial, late-onset											UMLS:C2750450|OMIM:613268																		owl:Class
HGNC:16438	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007931	biolink:NamedThing	vitelliform macular dystrophy 2	Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	mondoexuq1wtf	macular dystrophy, vitelliform, 2|Best vitelliform macular dystrophy, multifocal|polymorphic vitelline macular degeneration|vitelliform macular dystrophy, early-onset|BMD|BEST1 retinopathy|BVMD|early-onset vitelliform macular dystrophy|vitelliform macular dystrophy type 2|Best disease|VMD2|macular dystrophy, vitelliform, type 2|vitelliform macular dystrophy, juvenile-onset|Best macular dystrophy|macular Degeneration, polymorphic vitelline|macular degeneration, polymorphic vitelline|juvenile-onset vitelliform macular dystrophy|vitelliform macular dystrophy, type 2											GARD:0000182|GARD:0010301|Orphanet:1243|OMIM:153700|ICD10:H35.5|SCTID:763387005														https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy				owl:Class
HGNC:12703	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr21	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004668	biolink:NamedThing	fascioliasis	A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.	mondoexuq1wtf	liver flukes|infection by fasciola|Fasciolosis|sheep liver fluke infection|fasciola hepatica infection											SCTID:82308007|DOID:885|MESH:D005211|NCIT:C128387|GARD:0006428|EFO:1001324|UMLS:C1331532|ICD10:B66.3|UMLS:C0015652|ICD9:121.3														https://rarediseases.info.nih.gov/diseases/6428/fascioliasis				owl:Class
MONDO:0012584	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 9	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.	mondoexuq1wtf	susceptibility to systemic lupus erythematosus 9|systemic lupus erythematosus, susceptibility to, type 9|CR2 systemic lupus erythematosus (disease)|systemic lupus erythematosus (disease) caused by mutation in CR2|SLEB9|systemic lupus erythematosus, susceptibility to, 9											OMIM:610927																		owl:Class
MONDO:0016169	biolink:NamedThing	chronic acquired demyelinating polyneuropathy	Chronic form of acquired peripheral neuropathy.	mondoexuq1wtf	acquired peripheral neuropathy, chronic|chronic acquired peripheral neuropathy|CADP											Orphanet:208974																		owl:Class
HP:0002870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016050	biolink:NamedThing	thiamine-responsive encephalopathy	Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.	mondoexuq1wtf												Orphanet:199348|SCTID:723557004																		owl:Class
CHEBI:26948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000336	biolink:NamedThing	meningovascular neurosyphilis	A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.	mondoexuq1wtf												DOID:0050491																		owl:Class
HP:0002607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012510	biolink:NamedThing	combined oxidative phosphorylation defect type 2	Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	mondoexuq1wtf	combined oxidative phosphorylation deficiency type 2|combined oxidative phosphorylation deficiency 2|corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|COXPD2|MRPS16 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPS16											UMLS:C1864843|ICD10:E88.8|Orphanet:254920|OMIM:610498|DOID:0111483|SCTID:764943000|MESH:C566468																		owl:Class
HGNC:14048	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9115	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000298	biolink:NamedThing	dioctophymiasis	A disease caused by infection with Dioctophyme renale.	mondoexuq1wtf	Dioctophyme renale infectious disease|Dioctophyme renale caused disease or disorder|dioctophyma renale infection|dioctophymosis|giant kidney worm disease|Dioctophyme renale disease or disorder|Dioctophyme renale infection											SCTID:40410004|UMLS:C0012482|DOID:0050260																		owl:Class
NCBITaxon:513045	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001029	biolink:NamedThing	Klippel-Feil syndrome	Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.	mondoexuq1wtf	Klippel-Feil Sequence|Klippel Feil syndrome|autosomal dominant Klippel-Feil syndrome|congenital dystrophia brevicollis|Klippel-Feil and Turner syndrome|Klippel-Feil deformity, deafness and facial asymmetry|congenital synostosis of cervical vertebrae|cervical vertebral fusion					Usage notes: this class includes both isolated forms and forms that are features of other syndromes						OMIMPS:118100|GARD:0010280|SCTID:5601008|ICD10:Q76.1|MESH:D007714|ICD9:756.16|DOID:10426|NCIT:C98967														https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome				owl:Class
MONDO:0010393	biolink:NamedThing	intellectual disability, X-linked 93	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.	mondoexuq1wtf	MRX93|mental retardation, X-linked, with macrocephaly|mental retardation, X-linked 93|mental retardation, X-linked type 93|intellectual disability, X-linked 93|BRWD3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked, with macrocephaly|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|intellectual disability, X-linked type 93											UMLS:C1970841|OMIM:300659|MESH:C567066																		owl:Class
HGNC:17342	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010512	biolink:NamedThing	intellectual disability, X-linked, syndromic, bain type		mondoexuq1wtf	intellectual disability, X-linked, syndromic, bain type|MRXSB|mental retardation, X-linked, syndromic, bain type											OMIM:300986|UMLS:C4310814																		owl:Class
HGNC:5042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008377	biolink:NamedThing	retinitis pigmentosa 1	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.	mondoexuq1wtf	retinitis pigmentosa caused by mutation in RP1|RP|RP1|retinitis pigmentosa 1|retinitis pigmentosa|RP1 retinitis pigmentosa|retinitis pigmentosa type 1											MESH:C538365|OMIM:180100|GARD:0009149|ICD10:H35.5|UMLS:C0220701|DOID:0110390																		owl:Class
HGNC:10263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013909	biolink:NamedThing	human herpesvirus 8, susceptibility to		mondoexuq1wtf	HHV8S|HHV-8, susceptibility to|HUMAN HERPESVIRUS 8, susceptibility to											OMIM:614836																		owl:Class
NCBITaxon:37296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005590	biolink:NamedThing	breast ductal adenocarcinoma	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.	mondoexuq1wtf	duct adenocarcinoma|ductal breast carcinoma|breast ductal carcinoma|ductal carcinoma of breast|duct carcinoma|ductal carcinoma of the breast|mammary duct adenocarcinoma|ductal carcinoma|ductal breast adenocarcinoma|ductal adenocarcinoma											MESH:D018270|DOID:3007|NCIT:C4017|EFO:0006318																		owl:Class
UBERON:0001765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014844	biolink:NamedThing	premature ovarian failure 12	Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.	mondoexuq1wtf	POF12|premature ovarian failure 12|primary ovarian failure caused by mutation in SYCE1|premature ovarian failure type 12|SYCE1 primary ovarian failure|premature ovarian failure 12; POF12											UMLS:C4310782|OMIM:616947																		owl:Class
HGNC:28852	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014139	biolink:NamedThing	Ehlers-Danlos syndrome, progeroid type, 2	Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene.	mondoexuq1wtf	Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|EDSP2|EDSSPD2|B3GALT6 Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome, progeroid type, 2, formerly|Ehlers-Danlos syndrome, progeroid type, 2|Ehlers-Danlos syndrome, spondylodysplastic type, 2											UMLS:C3809210|OMIM:615349																		owl:Class
HGNC:17978	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011644	biolink:NamedThing	pars planitis	An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.	mondoexuq1wtf	peripheral retinal inflammation|inflammation of pars plana of ciliary body|pars plana of ciliary body inflammation|familial pars planitis (subtype)|pars planitis|pars plana of ciliary bodyitis|posterior cyclitis											ICD10:H30.2|EFO:1001088|ICD9:363.21|COHD:434026|OMIM:606177|NCIT:C34903|MedDRA:10034052|SCTID:314428001|GARD:0007339|DOID:12731|UMLS:C0030593|MESH:D015868																		owl:Class
UBERON:0034936	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005610	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002113	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006952	biolink:NamedThing	retinopathy of prematurity	A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.	mondoexuq1wtf	retrolental fibroplasia|Terry syndrome|ROP|premature retinopathy											DOID:13025|COHD:373766|GARD:0005695|ICD10:H35.17|ICD10:H35.1|SCTID:415297005|ICD9:362.20|ICD10:H35.10|ICD9:362.21|MESH:D012178|MedDRA:10038933|EFO:1001158|Orphanet:90050|NCIT:C34982|UMLS:C0035344																		owl:Class
UBERON:0000977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014227	biolink:NamedThing	hypopigmentation-punctate palmoplantar keratoderma syndrome		mondoexuq1wtf	punctate palmoplantar keratoderma with or without ectopic calcification|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification|COLED|hypopigmentation and punctate keratosis of the palms and soles|guttate hypopigmentation and punctate palmoplantar keratoderma|Cole disease|guttate hypopigmentation|COLE disease											SCTID:711154007|ICD10:Q82.8|Orphanet:324561|OMIM:615522|GARD:0012384|ICD9:757.39|UMLS:C3809781																		owl:Class
HGNC:3356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007704	biolink:NamedThing	osteoarthritis susceptibility 2		mondoexuq1wtf	osteoarthritis susceptibility 2|hand osteoarthritis|OADIP|MATN3 osteoarthritis|Dipoa|osteoarthritis caused by mutation in MATN3|osteoarthritis susceptibility type 2|osteoarthritis of distal interphalangeal joints|Heberden nodes|OS2											OMIM:140600																		owl:Class
HGNC:6909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:866	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009661	biolink:NamedThing	mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.	mondoexuq1wtf	N-acetylgalactosamine 4-sulfatase deficiency|Maroteaux - Lamy syndrome|MPS VI - Maroteaux-Lamy syndrome|MPS VI|MPS6|arylsulfatase B deficiency|deficiency of N-acetylgalactosamine-4-sulfatase|Maroteaux-Lamy syndrome|ASB deficiency|N-acetylgalactosamine-4-sulfatase deficiency|Maroteaux-Lamy disease|MPS 6|Arsb deficiency|Mucopoly-saccharidosis type VI|MPSVI|mucopolysaccharidosis VI|mucopolysaccharidosis type VI|Maroteaux Lamy syndrome|ARSB deficiency											SCTID:69463008|OMIM:253200|ICD10:E76.2|Orphanet:583|UMLS:C0026709|GARD:0007095|MESH:D009087|DOID:12800|MedDRA:10056892|NCIT:C61264																		owl:Class
GO:0003943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024554	biolink:NamedThing	D-2-hydroxyglutaric aciduria 1	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.	mondoexuq1wtf	D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH|D2HGDH D-2-hydroxyglutaric aciduria|D2HGA1											OMIM:600721|DOID:0111351|UMLS:C3152055																		owl:Class
HGNC:28358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012806	biolink:NamedThing	ectodermal dysplasia and immunodeficiency 2		mondoexuq1wtf	ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant|EPAID2											OMIM:612132|MESH:C567411|UMLS:C2677481																		owl:Class
HGNC:7797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008966	biolink:NamedThing	Aagenaes syndrome	Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.	mondoexuq1wtf	Aagenaes syndrome|cholestasis lymphedema syndrome|cholestasis-edema syndrome, Norwegian type|Chls|lymphedema cholestasis syndrome|LCS1|cholestasis-lymphedema syndrome|LCS|lymphedema-cholestasis syndrome											MESH:C535330|DOID:6691|UMLS:C0268314|ICD10:Q82.0|NCIT:C35709|ICD9:576.8|OMIM:214900|SCTID:28724005|Orphanet:1414|GARD:0000370														https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome				owl:Class
HP:0001394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9688	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
SO:1000037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36827	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13478	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0027676	biolink:NamedThing	congenital anomalies of kidney and urinary tract 2	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.	mondoexuq1wtf	pelviureteric junction obstruction|congenital anomalies of kidney and urinary tract 2|congenital anomalies of kidney and urinary tract type 2|hydronephrosis due to Pujo|congenital anomaly of kidney and urinary tract caused by mutation in TBX18|multicystic renal dysplasia, bilateral|TBX18 congenital anomaly of kidney and urinary tract|CAKUT2|ureteropelvic junction obstruction											OMIM:143400|DOID:0080207																		owl:Class
HGNC:11595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016735	biolink:NamedThing	papillary glioneuronal tumor	A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.	mondoexuq1wtf	PGNT|papillary glioneuronal tumor (WHO grade I)|pseudopapillary neurocytoma with glial differentiation|pseudopapillary ganglioglioneurocytoma											NCIT:C92554|Orphanet:251962|ICDO:9509/1|UMLS:C2985174|ONCOTREE:PGNT																		owl:Class
HGNC:1356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010456	biolink:NamedThing	renal cell carcinoma, Xp11-associated		mondoexuq1wtf	renal cell carcinoma, Xp11-associated|RCCX1											OMIM:300854|UMLS:C3275446																		owl:Class
HGNC:11752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006094	biolink:NamedThing	Askin tumor	A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.	mondoexuq1wtf	PNET of thoracopulmonary region|Askin's tumor|Askin tumor|peripheral neuroectodermal tumor of thoracopulmonary region|small cell tumor of thoracopulmonary region					Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling						NCIT:C7542|EFO:1000095|UMLS:C0877849|ICDO:9365/3|DOID:0050608																		owl:Class
UBERON:0002224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014678	biolink:NamedThing	intellectual disability, autosomal dominant 39	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.	mondoexuq1wtf	mental retardation, autosomal dominant 39|chromosome 2P25.3 deletion syndrome|MYT1L autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 39|autosomal dominant non-syndromic intellectual disability 39|autosomal dominant mental retardation 39|autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|intellectual disability, autosomal dominant type 39|chromosome 2P25.3 Duplication syndrome|autosomal dominant intellectual disability 39|MRD39|mental retardation, autosomal dominant type 39											OMIM:616521|UMLS:C4225296|DOID:0070069																		owl:Class
HGNC:7623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012314	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000065	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005708	biolink:NamedThing	Colorado tick fever	A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.	mondoexuq1wtf	Colorado tick fever virus caused disease or disorder|Colorado tick encephalitis|American mountain fever|Tick fever, American mountain|Mountain fever|Colorado tick fever virus disease or disorder|Mountain tick fever|Colorado tick fever virus infectious disease|Colorado tick-borne disease					Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature						MESH:D003121|Orphanet:83595|MedDRA:10010022|ICD10:A93.2|DOID:4885|ICD9:066.1|SCTID:6452009|UMLS:C0009400|EFO:0007213																		owl:Class
NCBITaxon:46839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0006530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009817	biolink:NamedThing	autosomal recessive osteopetrosis 5	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.	mondoexuq1wtf	osteopetrosis, autosomal recessive 5|osteopetrosis, autosomal recessive type 5|autosomal recessive osteopetrosis type 5|OPTB5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis autosomal recessive 5|infantile malignant osteopetrosis 3|osteopetrosis infantile malignant 3|osteopetrosis, infantile malignant 3|OSTM1 osteopetrosis (disease)											GARD:0004153|DOID:0110939|MESH:C566883|OMIM:259720														https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5				owl:Class
HGNC:21652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013122	biolink:NamedThing	glaucoma 3, primary congenital, D		mondoexuq1wtf	GLC3D|glaucoma 3, primary congenital, D|glaucoma 3, primary congenital, type D											MESH:C567765|OMIM:613086|UMLS:C2751316																		owl:Class
HGNC:6715	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019431	biolink:NamedThing	primitive portal vein thrombosis	Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.	mondoexuq1wtf	non-cirrhotic portal vein thrombosis											Orphanet:854|MedDRA:10036206|ICD10:I81																		owl:Class
HGNC:17797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016421	biolink:NamedThing	toxic oil syndrome	Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.	mondoexuq1wtf												SCTID:239910001|MedDRA:10051222|Orphanet:227972																		owl:Class
HGNC:1476	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014703	biolink:NamedThing	Adams-Oliver syndrome 6	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.	mondoexuq1wtf	AOS6|Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DLL4|Adams-Oliver syndrome type 6											OMIM:616589|UMLS:C4225271																		owl:Class
HGNC:2910	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001893	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032616	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 10		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10|MC1DN10											OMIM:618233																		owl:Class
HGNC:28086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014483	biolink:NamedThing	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies		mondoexuq1wtf	retinal dystrophy with inner nuclear layer and ganglion cell anomalies|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities|RDGCA											OMIM:616079|UMLS:C4015146|ICD10:H35.5|Orphanet:397758																		owl:Class
HGNC:6174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008391	biolink:NamedThing	Robinow-Sorauf syndrome		mondoexuq1wtf	Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome|acrocephalosyndactyly, Robinow-Sorauf type											UMLS:C1867146|UMLS:CN203672|Orphanet:3106|MESH:C537183|OMIM:180750																		owl:Class
HGNC:12428	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004607	biolink:NamedThing	vallecula cancer	A cancer involving a epiglottic vallecula.	mondoexuq1wtf	epiglottic vallecula cancer|malignant tumor of vallecula|malignant neoplasm of epiglottic vallecula|cancer of epiglottic vallecula|malignant epiglottic vallecula neoplasm											ICD10:C10.0|ICD9:146.3|DOID:8556|UMLS:C0153386|SCTID:363395000																		owl:Class
UBERON:0013165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011213	biolink:NamedThing	Pierpont syndrome	Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.	mondoexuq1wtf	PIERPONT syndrome|plantar lipomatosis, unusual facies, and developmental delay|Pierpont syndrome|PRPTS|plantar lipomatosis-unusual facies-developmental delay syndrome|plantar lipomatosis-facial dysmorphism-developmental delay syndrome											OMIM:602342|Orphanet:487825|MESH:C566559|UMLS:C1865644																		owl:Class
HGNC:29529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018173	biolink:NamedThing	acute opioid poisoning	Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.	mondoexuq1wtf												ICD10:T40.0|ICD10:T40.1|ICD10:T40.2|UMLS:CN227277|Orphanet:35889																		owl:Class
UBERON:0003607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007783	biolink:NamedThing	malignant hyperthermia, susceptibility to, 1	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.	mondoexuq1wtf	hyperpyrexia, malignant;MH KING syndrome, included|malignant hyperthermia of anesthesia caused by mutation in RYR1|hyperthermia of anesthesia|hyperpyrexia, malignant|malignant hyperthermia, susceptibility to, 1|King-Denborough syndrome, included|RYR1 malignant hyperthermia of anesthesia|MHS|King syndrome|malignant hyperthermia susceptibility type 1|MHS1|malignant hyperthermia, susceptibility to, type 1|susceptibility to malignant hyperthermia 1|King-Denborough syndrome											OMIM:145600|UMLS:CN031421|MESH:C535694|GARD:0003363|EFO:0009071														https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1				owl:Class
HGNC:10483	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010066	biolink:NamedThing	familial isolated congenital asplenia	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	mondoexuq1wtf	ICAS|splenic hypoplasia|hyposplenia, isolated congenital|asplenia, familial|asplenia, isolated congenital											ICD10:Q89.0|MESH:C563028|Orphanet:101351|SCTID:726708009|OMIM:271400																		owl:Class
HGNC:6502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005568	biolink:NamedThing	cholesterol embolism	Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.	mondoexuq1wtf	trash foot|purple toe syndrome|atheroembolism|cholesterol crystal embolism|warfarin blue toe syndrome											UMLS:C0149649|UMLS:C0585266|MESH:D017700|EFO:0005801|SCTID:307406004|ICD10:I75|ICD9:459.89|DOID:1461|ICD9:445																		owl:Class
MONDO:0020532	biolink:NamedThing	spirillary rat-bite fever	Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.	mondoexuq1wtf	Spirillary fever|sodoku|spirillosis|sodoku disease											ICD10:A25.0|SCTID:19044004|ICD9:026.0|DOID:12096|Orphanet:99903																		owl:Class
NCBITaxon:967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008076	biolink:NamedThing	amyotrophic neuralgia	An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.	mondoexuq1wtf	neuralgic amyotrophy|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|hereditary brachial plexus neuropathy|neuritis with brachial predilection|brachial plexus neuropathy, hereditary|HNA|hereditary neuralgic amyotrophy|amyotrophy, hereditary neuralgic											ICD9:353.5|DOID:10383|ICD10:G54.5|SCTID:26609002|OMIM:162100|GARD:0003955																		owl:Class
HGNC:7323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014081	biolink:NamedThing	severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.	mondoexuq1wtf	IMD11|SCID due to CARD11 deficiency|CARD11 immunodeficiency|IMD11A|immunodeficiency 11|immunodeficiency type 11											ICD10:D81.2|Orphanet:357237|OMIM:615206|UMLS:C3554686																		owl:Class
HGNC:16393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013442	biolink:NamedThing	nephronophthisis 12	Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.	mondoexuq1wtf	nephronophthisis type 12|TTC21B nephronophthisis (disease)|nephronophthisis 12|Joubert syndrome 11|nephronophthisis (disease) caused by mutation in TTC21B|NPHP12											OMIM:613820|UMLS:C3151186|DOID:0111119																		owl:Class
HGNC:25660	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012332	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020735	biolink:NamedThing	ACTH-independent macronodular adrenal hyperplasia 1		mondoexuq1wtf	ACTH-independent macronodular adrenocortical hyperplasia|AIMAH1|ACTH-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|Cushing syndrome, adrenal, due to AIMAH|corticotropin-independent macronodular adrenal hyperplasia											UMLS:C1857451|DOID:0111623|OMIM:219080																		owl:Class
MONDO:0014614	biolink:NamedThing	congenital stationary night blindness 1G	A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.	mondoexuq1wtf	CSNB1G|congenital stationary night blindness type 1G|night blindness, congenital stationary, type 1G											UMLS:C4225345|OMIM:616389|DOID:0110714																		owl:Class
MONDO:0100133	biolink:NamedThing	mitochondrial complex I deficiency	A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.	mondoexuq1wtf	isolated NADH-coenzyme Q reductase deficiency|isolated NADH-CoQ reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated complex I deficiency|NADH coenzyme Q reductase deficiency|isolated NADH-ubiquinone reductase deficiency							http://orcid.org/0000-0001-5208-3432				MESH:C537475|Orphanet:2609|UMLS:C2936907|GARD:0003908|DOID:0060536														https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency				owl:Class
GO:0005747	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005797	biolink:NamedThing	HIV wasting syndrome	Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).	mondoexuq1wtf												MESH:D019247|Orphanet:90081|EFO:0007312|UMLS:C0343755																		owl:Class
HP:0004326	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004187	biolink:NamedThing	nodular fasciitis	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	mondoexuq1wtf	fasciitis - nodular|nodular fasciitis|pseudosarcomatous fibromatosis|pseudosarcomatous fasciitis											SCTID:400138001|ICD9:728.79|ICD10:M72.4|Orphanet:477742|NCIT:C3827|DOID:7327|UMLS:C0410005																		owl:Class
MONDO:0014256	biolink:NamedThing	retinitis pigmentosa 67	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.	mondoexuq1wtf	retinitis pigmentosa 67|NEK2 retinitis pigmentosa|RP67|retinitis pigmentosa type 67|retinitis pigmentosa caused by mutation in NEK2											UMLS:C3809954|DOID:0110359|ICD10:H35.5|OMIM:615565																		owl:Class
HGNC:7745	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011650	biolink:NamedThing	atrioventricular septal defect, susceptibility to, 2	Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.	mondoexuq1wtf	atrioventricular septal defect, susceptibility to, 2|atrioventricular septal defect, partial, with heterotaxy syndrome|AVSD2|atrioventricular septal defect, susceptibility to, type 2|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect caused by mutation in CRELD1|CRELD1 atrioventricular septal defect											MESH:C565249|OMIM:606217																		owl:Class
HGNC:14630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045024	biolink:NamedThing	cancer or benign tumor	Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.	mondoexuq1wtf	cell proliferation disorder|neoplasm																													owl:Class
GO:0008283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007395	biolink:NamedThing	craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.	mondoexuq1wtf	craniofacial-deafness-hand syndrome|craniofacial deafness hand syndrome|CDHS|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|Sommer-Young-Wee-Frye syndrome											DOID:0111336|Orphanet:1529|SCTID:702362004|MESH:C536453|ICD10:Q87.0|GARD:0001571|OMIM:122880|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome				owl:Class
HGNC:8617	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009254	biolink:NamedThing	fucosidosis	Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	mondoexuq1wtf	alpha fucosidase deficiency|lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|fucosidosis|A-fucosidase deficiency|Alpha-L-fucosidase deficiency											GARD:0006473|MESH:D005645|ICD9:271.8|Orphanet:349|ICD10:E77.1|OMIM:230000|NCIT:C61274|SCTID:64716005|UMLS:C0016788|DOID:14500														https://rarediseases.info.nih.gov/diseases/6473/fucosidosis				owl:Class
HGNC:4006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008162	biolink:NamedThing	otitis media, susceptibility to		mondoexuq1wtf	otitis Media, chronic/recurrent|come/Rom|otitis media, susceptibility to|OMS											OMIM:166760																		owl:Class
HP:0001903	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6930	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013880	biolink:NamedThing	facial paresis, hereditary congenital, 3	Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.	mondoexuq1wtf	congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|HCFP3|facial paresis, hereditary congenital, 3|HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|facial paresis, hereditary congenital, type 3											UMLS:C3553625|OMIM:614744																		owl:Class
HGNC:5111	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001246	biolink:NamedThing	typhus	A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.	mondoexuq1wtf	shop typhus|Mexican typhus|hospital fever|exanthematic typhus fever|typhus-group rickettsiae disease|ship fever|petechial fever|Urban typhus|Moscow typhus|murine typhus|endemic typhus fever|classical typhus|louse-borne rickettsiosis|typhus fever|epidemic (louse-borne) typhus|typhus-group rickettsiosis|flea-borne typhus|European typhus|murine [endemic] typhus|epidemic louse-borne typhus|famine fever|endemic flea-borne typhus|rat flea typhus|louse-borne [epidemic] typhus|louse-borne typhus|typhus exanthematique|classical typhus (fever)|jail fever|exanthematous typhus|epidemic louse-borne typhus fever due to Rickettsia prowazekii|prison fever|flea typhus|flea-borne rickettsiosis											UMLS:C0041471|ICD10:A75.3|ICD9:081.9|ICD10:A75.2|SCTID:240613006|DOID:11256|UMLS:C0041472|GARD:0007833|ICD9:081.0|ICD10:A75.9|ICD10:A75.0|ICD10:A75.1|ICD9:080|Orphanet:102023|ICD10:A75																		owl:Class
NCBITaxon:780	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012808	biolink:NamedThing	dilated cardiomyopathy 1AA	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|dilated cardiomyopathy type 1AA|ACTN2 familial isolated dilated cardiomyopathy|CMD1AA|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|dilated cardiomyopathy 1AA with or without left ventricular noncompaction											MESH:C567407|ICD10:I42.0|OMIM:612158|UMLS:C2677338|DOID:0110428																		owl:Class
HGNC:164	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015260	biolink:NamedThing	diphyllobothriasis	Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).	mondoexuq1wtf	Diphyllobothrium disease or disorder|Diphyllobothrium caused disease or disorder|Diphyllobothrium infectious disease|fish tapeworm|Bothriocephalosis|Diphyllobothrium infection											ICD10:B70.0|UMLS:C0012561|NCIT:C128391|Orphanet:128|EFO:0007238|MedDRA:10013029|DOID:10075|SCTID:187151009|MESH:D004169|ICD9:123.4|GARD:0000942																		owl:Class
NCBITaxon:60516	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016223	biolink:NamedThing	infantile hemangioma of rare localization		mondoexuq1wtf						Editor note: consider alternate naming						UMLS:CN226884|SCTID:703270004|UMLS:C3839613|Orphanet:210589																		owl:Class
HGNC:11120	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013737	biolink:NamedThing	hereditary spastic paraplegia 46	A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	mondoexuq1wtf	GBA2 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 46|SPG46|autosomal recessive spastic paraplegia 46|autosomal recessive spastic paraplegia type 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|spastic paraplegia 46, autosomal recessive											SCTID:723822009|UMLS:C2828721|ICD10:G11.4|OMIM:614409|Orphanet:320391|DOID:0110798|UMLS:C4510081																		owl:Class
HGNC:18986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014645	biolink:NamedThing	BENTA disease	BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.	mondoexuq1wtf	B-cell expansion with NFKB and T-cell anergy|BENTA|B-cell expansion with NF-kB and T-cell anergy disease											GARD:0013339|Orphanet:464336|UMLS:CN231446|OMIM:616452|UMLS:CN242071																		owl:Class
MONDO:0013911	biolink:NamedThing	hypogonadotropic hypogonadism 9 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.	mondoexuq1wtf	HH9|hypogonadotropic hypogonadism caused by mutation in NSMF|hypogonadotropic hypogonadism 9 with or without anosmia|NSMF hypogonadotropic hypogonadism											UMLS:C3553842|ICD10:E23.0|DOID:0090085|OMIM:614838																		owl:Class
HGNC:29843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003937	biolink:NamedThing	spondylitis	The inflammation of a vertebra.	mondoexuq1wtf	inflammation of vertebra|vertebra inflammation											DOID:6590|MESH:D013166|ICD9:720.89|SCTID:84172003|ICD9:720.8|ICD10:M46|NCIT:C116779																		owl:Class
UBERON:0002412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10807	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010687	biolink:NamedThing	nephrolithiasis, X-linked recessive, with renal failure		mondoexuq1wtf	urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|nephrolithiasis, X-linked recessive, type 1|XRN|nephrolithiasis 1					Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations						SCTID:236713006|OMIM:310468|MESH:C562901																		owl:Class
HGNC:2023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100347	biolink:NamedThing	carcinoid syndrome		mondoexuq1wtf	malignant carcinoid syndrome|carcinoid tumors, intestinal|carcinoid tumor syndrome|carcinoid syndrome							http://orcid.org/0000-0001-5208-3432				MedDRA:10007270|NCIT:C3215|SCTID:35868009|GARD:0005994|EFO:1000852|ICD9:259.2|COHD:199771|ICD10:E34.0|Orphanet:100093														https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome				owl:Class
MONDO:0019833	biolink:NamedThing	pituitary hormone deficiency from tumoral origin		mondoexuq1wtf						Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma						Orphanet:95503|UMLS:CN206780																		owl:Class
UBERON:0001384	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016865	biolink:NamedThing	Kleefstra syndrome due to a point mutation		mondoexuq1wtf												Orphanet:261652|UMLS:CN202210|ICD10:Q87.8																		owl:Class
SO:1000008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0032502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017054	biolink:NamedThing	thiamine-responsive maple syrup urine disease	Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.	mondoexuq1wtf	thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive MSUD|thiamine-responsive BCKD deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency											ICD10:E71.0|Orphanet:268184																		owl:Class
HGNC:25481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019128	biolink:NamedThing	mullerian aplasia		mondoexuq1wtf	Mullerian duct failure|Müllerian duct failure|aplasia of the Mullerian ducts|Müllerian aplasia|aplasia of the Müllerian ducts											SCTID:253828000|Orphanet:73217|MESH:C537371																		owl:Class
MONDO:0011766	biolink:NamedThing	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		mondoexuq1wtf	46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy											MESH:C567773|Orphanet:168563|OMIM:607080|UMLS:C2751325|ICD10:Q56.1																		owl:Class
HGNC:2865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:61	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1152	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005408	biolink:NamedThing	diabetes mellitus type 2 associated cataract	Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism	mondoexuq1wtf												EFO:0004596																		owl:Class
NCBITaxon:186540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004379	biolink:NamedThing	female breast carcinoma	A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.	mondoexuq1wtf	female breast cancer|mammary carcinoma of the female breast|female breast carcinoma|mammary carcinoma of female breast|carcinoma of female breast|carcinoma of the female breast|breast carcinoma, female											SCTID:447782002|UMLS:C0007104|DOID:0050671|ICD9:174.8|ICD9:174.9|DOID:7843|NCIT:C2918|SCTID:372064008																		owl:Class
HGNC:15685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003955	biolink:NamedThing	juvenile breast papillomatosis	A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.	mondoexuq1wtf	Swiss cheese disease|juvenile papillomatosis of breast|juvenile breast papillomatosis|juvenile papillomatosis of the breast|breast juvenile papillomatosis											SCTID:708518001|DOID:6641|NCIT:C9503|UMLS:C1334303																		owl:Class
HP:0003621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008278	biolink:NamedThing	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		mondoexuq1wtf	juvenile polyposis with hereditary hemorrhagic telangiectasia|JP/Hht syndrome|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|JPHT|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|jPS/Hht											OMIM:175050|MESH:C563412|UMLS:C1832942|DOID:0111543																		owl:Class
HGNC:6770	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014621	biolink:NamedThing	Brugada syndrome 9	Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.	mondoexuq1wtf	Brugada syndrome type 9|KCND3 Brugada syndrome|Brugada syndrome caused by mutation in KCND3|BRGDA9|Brugada syndrome 9											OMIM:616399|UMLS:C4225340|DOID:0110226|ICD10:I49.8																		owl:Class
HGNC:6239	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044982	biolink:NamedThing	drug pseudoallergy		mondoexuq1wtf	drug pseudoallergy|drug allergy											UMLS:C3662272|SCTID:609398007																		owl:Class
MONDO:0014607	biolink:NamedThing	developmental and epileptic encephalopathy, 32	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, type 32|DEE32|KCNA2 early infantile epileptic encephalopathy|EIEE32|early infantile epileptic encephalopathy caused by mutation in KCNA2|epileptic encephalopathy, early infantile, 32											DOID:0080416|UMLS:C4225350|OMIM:616366																		owl:Class
HGNC:6220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006522	biolink:NamedThing	acquired keratosis	Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.	mondoexuq1wtf	acquired keratosis|keratoderma, acquired|acquired keratoderma|acquired hyperkeratosis|keratoderma - acquired											SCTID:400166009|EFO:1000663|COHD:137951|NCIT:C34746|DOID:13072|ICD9:701.1																		owl:Class
MONDO:0014420	biolink:NamedThing	short stature due to primary acid-labile subunit deficiency	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.	mondoexuq1wtf	ACLSD|acid-labile SUBUNIT deficiency											OMIM:615961|ICD10:E34.3|Orphanet:140941|SCTID:721074002|UMLS:C3900122																		owl:Class
HGNC:5468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044970	biolink:NamedThing	mitochondrial disease		mondoexuq1wtf																														owl:Class
GO:0005739	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016092	biolink:NamedThing	serous or mucinous cystadenoma of childhood	Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.	mondoexuq1wtf	serous cystadenoma of ovary in childhood|mucinous cystadenoma of ovary in childhood											Orphanet:206470|ICD10:D27																		owl:Class
NCBITaxon:730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015771	biolink:NamedThing	mosaic trisomy 7	Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	mondoexuq1wtf	Mosaic trisomy chromosome 7|trisomy 7 mosaicism|Mosaic trisomy type 7											UMLS:CN036006|ICD10:Q92.1|GARD:0005354|SCTID:764630003|Orphanet:1747|MESH:C537822														https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7				owl:Class
OBO:CHR_9606-chr7	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015169	biolink:NamedThing	chronic diarrhea due to glucoamylase deficiency	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.	mondoexuq1wtf	maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency|maltase glucoamylase deficiency											ICD10:E74.3|SCTID:716277000|UMLS:C4275068|Orphanet:103907																		owl:Class
GO:0004339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014946	biolink:NamedThing	Sifrim-Hitz-Weiss syndrome		mondoexuq1wtf	Sifrim-Hitz-Weiss syndrome; SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome|SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|Sifrim-Hitz-Weiss syndrome											OMIM:617159|UMLS:C4310688																		owl:Class
HGNC:1919	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019977	biolink:NamedThing	parkinsonism with dementia of Guadeloupe	Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.	mondoexuq1wtf												UMLS:CN206908|SCTID:715737004|Orphanet:97355|ICD10:G20+|ICD10:F02.3*																		owl:Class
GO:0003810	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044355	biolink:NamedThing	isolated sternocostoclavicular hyperostosis	Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.	mondoexuq1wtf	isolated SCCH											ICD10:M85.8|SCTID:766711009|UMLS:C0020499|Orphanet:178311																		owl:Class
MONDO:0017299	biolink:NamedThing	acute annular outer retinopathy		mondoexuq1wtf	AAOR											Orphanet:284460																		owl:Class
HP:0011220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:54292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012888	biolink:NamedThing	sarcoidosis, susceptibility to, 2	Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.	mondoexuq1wtf	SS2|sarcoidosis caused by mutation in BTNL2|sarcoidosis, susceptibility to, 2|BTNL2 sarcoidosis|sarcoidosis, susceptibility to, type 2|susceptibility to sarcoidosis 2											OMIM:612387																		owl:Class
GO:0006094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014687	biolink:NamedThing	retinitis pigmentosa 73	Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.	mondoexuq1wtf	HGSNAT retinitis pigmentosa|retinitis pigmentosa type 73|retinitis pigmentosa 73|retinitis pigmentosa caused by mutation in HGSNAT|RP73											OMIM:616544|DOID:0110389|ICD10:H35.5|UMLS:C4225287																		owl:Class
HGNC:26527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000236	biolink:NamedThing	oropharyngeal anthrax	A anthrax infection that involves the oropharynx.	mondoexuq1wtf	oropharynx anthrax infection											DOID:0050059																		owl:Class
UBERON:0001729	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014072	biolink:NamedThing	D,L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.	mondoexuq1wtf	D,L-2-hydroxyglutaric acidemia|D2L2AD|combined D-2- and L-2-hydroxyglutaric aciduria|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-HGA											UMLS:C4076194|ICD10:E72.8|SCTID:713401006|Orphanet:356978|ICD9:270.8|DOID:0111619|OMIM:615182																		owl:Class
HGNC:10979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010362	biolink:NamedThing	glycogen storage disease IXd	A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.	mondoexuq1wtf	glycogenosis type IXd|GSD due to muscle phosphorylase kinase deficiency|GSD type 9D|PHKA1-related glycogen storage disease type IX|glycogen storage disease caused by mutation in PHKA1|glycogen storage disease type 9D|GSD IXd|GSD Vb|glycogen storage disease type IXd|glycogenosis type 9D|GSD9D|glycogen storage disease due to muscle phosphorylase kinase deficiency|muscular phosphorylase kinase deficiency|glycogenosis due to muscle phosphorylase kinase deficiency|glycogen storage disease, type IXd|muscle glycogenosis, X-linked|PHKA1 glycogen storage disease|GSD type IXd|muscle phosphorylase kinase deficiency											GARD:0003858|ICD10:E74.0|MESH:C564485|OMIM:300559|Orphanet:715|DOID:0111040														https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency				owl:Class
HGNC:8925	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001335	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13825	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009143	biolink:NamedThing	Meier-Gorlin syndrome 1	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.	mondoexuq1wtf	Meier-Gorlin syndrome 1|Meier-GORLIN syndrome 1|Meier-Gorlin syndrome type 1|Meier-Gorlin syndrome|MGORS1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in ORC1|microtia, absent patellae, micrognathia syndrome|Ear, patella, short stature syndrome											OMIM:224690|DOID:0080512|SCTID:703508009|UMLS:CN030358|ICD9:759.89																		owl:Class
HGNC:8487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010831	biolink:NamedThing	familial caudal dysgenesis	Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.	mondoexuq1wtf	sirenomelia|sacral defect with anterior meningocele|Rudd-Klimek syndrome|SDAM|caudal regression syndrome|caudal regression|sacral agenesis|Sdam|caudal dysgenesis familial type|caudal dysgenesis syndrome|familial caudal dysgenesis											GARD:0000215|ICD10:Q87.8|OMIM:600145|SCTID:722493007|GARD:0004751|NCIT:C99054|Orphanet:1768																		owl:Class
HGNC:15512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007634	biolink:NamedThing	intellectual disability, FRA12A type		mondoexuq1wtf	intellectual disability, FRA12A type|mental retardation, FRA12A type											MESH:C566980|UMLS:C1969893|OMIM:136630																		owl:Class
HGNC:29284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008593	biolink:NamedThing	trichomegaly		mondoexuq1wtf	eyelashes, long|trichomegaly|TCMGLY											OMIM:190330																		owl:Class
HGNC:3683	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021747	biolink:NamedThing	Acanthamoeba infectious disease	A infectious disease involving the Acanthamoeba.	mondoexuq1wtf	acanthamoebiasis|acanthamoebosis|infection caused by Acanthamoeba|infections, Acanthamoeba|Acanthamoeba infection|infection by Acanthamoeba											SCTID:49649001																		owl:Class
NCBITaxon:5754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017649	biolink:NamedThing	hemidystonia-hemiatrophy syndrome	Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.	mondoexuq1wtf	HD-HA syndrome											UMLS:CN203542|Orphanet:306741																		owl:Class
MONDO:0004720	biolink:NamedThing	variola minor infection	A orthopoxvirus that causes a milder clinical syndrome than smallpox.	mondoexuq1wtf	milkpox|whitepox|alastrim|cottonpox|Variola minor											SCTID:72294005|DOID:9153|NCIT:C34365|ICD9:050.1|UMLS:C0001906																		owl:Class
NCBITaxon:53258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012931	biolink:NamedThing	focal segmental glomerulosclerosis 4, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.	mondoexuq1wtf	focal segmental glomerulosclerosis caused by mutation in APOL1|susceptibility to focal segmental glomerulosclerosis 4|focal segmental glomerulosclerosis 4, susceptibility to|APOL1 focal segmental glomerulosclerosis|FSGS4|end-stage renal disease, nondiabetic, susceptibility to											OMIM:612551																		owl:Class
HGNC:618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014862	biolink:NamedThing	cerebral palsy, spastic quadriplegic, 3	Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.	mondoexuq1wtf	CPSQ3|cerebral palsy, spastic quadriplegic, 3; CPSQ3|ADD3 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 3|cerebral palsy, spastic quadriplegic, 3|spastic quadriplegia caused by mutation in ADD3											UMLS:C4310767|OMIM:617008																		owl:Class
HGNC:245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043283	biolink:NamedThing	silicosiderosis		mondoexuq1wtf	silicosiderosis|iron miners lung|hematite pneumoconiosis|siderosilicosis|hematite miners' lung disease											SCTID:34004002|UMLS:C0018929|EFO:1001855|MESH:C537337|GARD:0008372																		owl:Class
CHEBI:50818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013727	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 1	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.	mondoexuq1wtf	Rpl|pregnancy loss, recurrent, susceptibility caused by mutation in F5|abortion, spontaneous, recurrent|pregnancy loss, recurrent, susceptibility to, 1|miscarriage, recurrent|RPRGL1|Rprgl|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, type 1|stillbirth, recurrent|F5 pregnancy loss, recurrent, susceptibility|embryonic loss, recurrent											OMIM:614389|EFO:0008899																		owl:Class
MONDO:0008854	biolink:NamedThing	Bardet-Biedl syndrome 1	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.	mondoexuq1wtf	Bardet-Biedl syndrome type 1|BBS1|Bardet-Biedl syndrome 1											ICD10:Q87.89|DOID:0110123|MESH:C537909|OMIM:209900|GARD:0000820|UMLS:C2936862|EFO:0009021																		owl:Class
HGNC:966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024551	biolink:NamedThing	X-linked lymphoproliferative disease due to SH2D1A deficiency	A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.	mondoexuq1wtf	immunodeficiency 5|infectious mononucleosis, Severe, susceptibility to|Duncan disease|Purtilo syndrome|immunodeficiency, X-linked progressive combined variable|lymphoproliferative disease, X-linked|lymphoproliferative syndrome, X-linked, 1|Lyp|XLP1|Epstein-Barr Virus infection, familial fatal|EBV infection, Severe, susceptibility to|Xlp											OMIM:308240|Orphanet:538931																		owl:Class
HGNC:10820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009472	biolink:NamedThing	acetylation, slow		mondoexuq1wtf	INH inactivation, slow|Fast acetylator phenotype|INH inactivation, Fast|slow acetylator phenotype|acetylation, slow|Isoniazid inactivation, slow|acetylation, Fast											OMIM:243400																		owl:Class
HGNC:7646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003980	biolink:NamedThing	schwannoma of jugular foramen	A rare intracranial schwannoma that affects the jugular foramen.	mondoexuq1wtf	jugular foramen schwannoma|schwannoma of the jugular Foramen|neurilemmoma of jugular Foramen|jugular Foramen neurilemmoma|neurilemmoma of the jugular Foramen											DOID:6735|NCIT:C5323|UMLS:C1334300																		owl:Class
UBERON:0005456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013189	biolink:NamedThing	trichotillomania	A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.	mondoexuq1wtf	trichotillomania|TTM											COHD:4062972|MESH:D014256|GARD:0007803|DOID:0050587|ICD9:312.39|NCIT:C94336|SCTID:17155009|OMIM:613229|ICD10:F63.3																		owl:Class
HGNC:20297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004151	biolink:NamedThing	spinal meninges cancer	A malignant neoplasm involving the meninx of spinal cord.	mondoexuq1wtf	malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|meninx of spinal cord cancer|malignant neoplasm of spinal meninges|cancer of meninx of spinal cord											SCTID:363476006|ICD10:C70.1|UMLS:C0153647|ICD9:192.3|DOID:7224																		owl:Class
UBERON:0003292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013087	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 2	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.	mondoexuq1wtf	BESC2|bronchiectasis caused by mutation in SCNN1A|cystic fibrosis-like syndrome|bronchiectasis with or without elevated sweat chloride 2|bronchiectasis with or without elevated sweat chloride type 2|SCNN1A bronchiectasis											UMLS:C2751666|MESH:C567813|OMIM:613021|DOID:0080527																		owl:Class
HGNC:10599	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013719	biolink:NamedThing	cranioectodermal dysplasia 4		mondoexuq1wtf	cranioectodermal dysplasia type 4|CED4|cranioectodermal dysplasia 4											OMIM:614378|UMLS:C3280616																		owl:Class
HGNC:18340	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014193	biolink:NamedThing	primary ciliary dyskinesia 23	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.	mondoexuq1wtf	primary ciliary dyskinesia type 23|ciliary dyskinesia, primary, type 23|ARMC4 primary ciliary dyskinesia|primary ciliary dyskinesia 23 with or without situs inversus|primary ciliary dyskinesia caused by mutation in ARMC4|ciliary dyskinesia, primary, 23|CILD23|ciliary dyskinesia, primary, 23, with or without situs inversus											DOID:0110609|OMIM:615451|ICD10:Q34.8|UMLS:C3809548																		owl:Class
HGNC:25583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011873	biolink:NamedThing	Niemann-Pick disease, type C2	Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	NPC2|Niemann-Pick disease type C2|type C2 Niemann-Pick disease|Niemann-Pick disease, type C2|Niemann-PICK disease, type C2											OMIM:607625|UMLS:C1843366|NCIT:C126865|MESH:C536119|DOID:0070114|GARD:0003992|ICD10:E75.2														https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2				owl:Class
HGNC:14537	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011950	biolink:NamedThing	infantile-onset autosomal recessive nonprogressive cerebellar ataxia		mondoexuq1wtf	spinocerebellar ataxia autosomal recessive 6|spinocerebellar ataxia, autosomal recessive 6|autosomal recessive spinocerebellar ataxia type 6|cerebellar ataxia, infantile nonprogressive, autosomal recessive|Norwegian infantile onset ataxia|cerebellar ataxia infantile nonprogressive autosomal recessive|SCAR6											ICD10:G11.0|DOID:0111617|UMLS:C1842676|MESH:C537312|OMIM:608029|Orphanet:284332|GARD:0004954																		owl:Class
MONDO:0012909	biolink:NamedThing	skeletal defects, genital hypoplasia, and intellectual disability		mondoexuq1wtf	skeletal defects, genital hypoplasia, and mental retardation|skeletal defects, genital hypoplasia, and intellectual disability											MESH:C567306|OMIM:612447|UMLS:C2676231																		owl:Class
HGNC:12930	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008892	biolink:NamedThing	progressive familial intrahepatic cholestasis type 1	PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.	mondoexuq1wtf	progressive familial intrahepatic cholestasis|cholestasis, fatal intrahepatic|Byler disease|cholestasis, progressive familial intrahepatic, 1|Byler's disease|severe ATP8B1 deficiency|FIC1 deficiency|cholestasis, progressive familial intrahepatic, type 1|PFIC1											DOID:0070226|GARD:0009802|UMLS:CN205891|Orphanet:79306|OMIM:211600|ICD10:K76.8																		owl:Class
HGNC:3706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011339	biolink:NamedThing	hereditary spastic paraplegia 8	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in WASHC5|WASHC5 hereditary spastic paraplegia|hereditary spastic paraplegia type 8|spastic paraplegia 8, autosomal dominant|spastic paraplegia 8|autosomal dominant spastic paraplegia 8|SPG8|autosomal dominant spastic paraplegia type 8											OMIM:603563|DOID:0110823|GARD:0009591|UMLS:C1863704|MESH:C580458|Orphanet:100989|ICD10:G11.4																		owl:Class
HGNC:28984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8803	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014599	biolink:NamedThing	intellectual disability, autosomal dominant 34	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|intellectual disability, autosomal dominant type 34|mental retardation, autosomal dominant type 34|mental retardation, autosomal dominant 34|MRD34|intellectual disability, autosomal dominant 34|autosomal dominant mental retardation 34|autosomal dominant intellectual disability 34|COL4A3BP autosomal dominant non-syndromic intellectual disability											DOID:0070064|OMIM:616351																		owl:Class
HGNC:2205	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6692	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011904	biolink:NamedThing	seizures, benign familial infantile, 3	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.	mondoexuq1wtf	convulsions, benign familial infantile, 3|SCN2A benign familial infantile epilepsy|benign familial infantile epilepsy caused by mutation in SCN2A|seizures, benign familial infantile, type 3|seizures, benign familial infantile, 3|BFIS3|seizures, benign familial neonatal-infantile											UMLS:C1843140|OMIM:607745																		owl:Class
HGNC:10588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008260	biolink:NamedThing	Kindler syndrome	Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	mondoexuq1wtf	Kindler syndrome|poikiloderma, hereditary acrokeratotic|poikiloderma, congenital, with bullae, Weary type|bullous acrokeratotic poikiloderma of Kindler and Weary|KINDLER syndrome|poikiloderma of Kindler|KNDLRS|congenital bullous poikiloderma|KS											GARD:0004391|ICD10:Q81.8|OMIM:173650|Orphanet:2908|SCTID:238836000|DOID:0060472|MESH:C536321																		owl:Class
HGNC:15889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006513	biolink:NamedThing	estrogen-receptor negative breast cancer	A subtype of breast cancer that is estrogen-receptor negative	mondoexuq1wtf	ER- breast cancer											EFO:1000650|DOID:0060076																		owl:Class
NCIT:C15493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010966	biolink:NamedThing	achondrogenesis type IB	Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.	mondoexuq1wtf	achondrogenesis, type 1B|Fraccaro achondrogenesis|achondrogenesis, Parenti-Fraccaro type|achondrogenesis Fraccaro type|achondrogenesis type 1B|achondrogenesis, Fraccaro type|ACG1B|achondrogenesis, type IB											GARD:0000460|ICD10:Q77.0|Orphanet:93298|OMIM:600972|DOID:0080055																		owl:Class
HP:0000023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001706	biolink:NamedThing	cerebral sarcoidosis	Sarcoidosis of the cerebrum.	mondoexuq1wtf	sarcoidosis of telencephalon|telencephalon sarcoidosis|cerebral sarcoidosis											DOID:13403|NCIT:C35441|UMLS:C0398676|SCTID:111936002																		owl:Class
NCBITaxon:10239	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005425	biolink:NamedThing	podoconiosis	A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.	mondoexuq1wtf	soil elephantiasis|nonfilarial elephantiasis|non-filarial elephantiasis|elephantiasis from soil											EFO:0004712|ICD9:457.1|SCTID:47595008|DOID:0050138																		owl:Class
ENVO:00001998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:31704	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010337	biolink:NamedThing	X-linked intellectual disability-cerebellar hypoplasia syndrome	X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.	mondoexuq1wtf	mental retardation x-linked 60 (formerly)|OPHN1 deficiency|OPHN1 XLMR|intellectual disability, X-linked 60, formerly|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation, X-linked 60|X-linked intellectual Deficit with cerebellar Hypoplasia|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|intellectual disability, X-linked 60|Oligophrenin-1 syndrome|OPHN1- related XLID|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|MRX60 (formerly)|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation, X-linked 60, formerly|intellectual disability x-linked 60 (formerly)|OPHN1 XLMR, X-linked intellectual disability|OPHN1 syndrome											GARD:0013093|MESH:C537456|Orphanet:137831|DOID:0080311|ICD10:Q04.3|SCTID:719136005|GARD:0009947|OMIM:300486														https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance				owl:Class
HGNC:8148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008501	biolink:NamedThing	Sturge-Weber syndrome	Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.	mondoexuq1wtf	Sturge-Weber-Krabbe angiomatosis|Sturge-Weber-Dimitri syndrome|Encephalotrigeminal angiomatosis|Sturge-Weber disease|Encephalofacial angiomatosis|Encephalotrigeminal syndrome|meningeal capillary angiomatosis|SWS type II - Facial angioma alone, no CNS involvement|SWS|SWS type III - isolated leptomeningeal angiomas|SWS type I - Facial and leptomeningeal angiomas|Sturge Weber syndrome|leptomeningeal angiomatosis|fourth phacomatosis|Sturge-Weber-Krabbe syndrome|Sturge-Weber syndrome|STURGE-WEBER syndrome											MESH:D013341|ICD10:Q85.8|UMLS:C0038505|UMLS:CN204001|GARD:0007706|ICD9:759.6|Orphanet:3205|MedDRA:10057653|OMIM:185300|MedDRA:10042265|NCIT:C3391|DOID:0111563|SCTID:19886006														https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome				owl:Class
HP:0000478	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100228	biolink:NamedThing	LAMA2-related muscular dystrophy	Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
HGNC:6482	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013546	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	mondoexuq1wtf	MC5DN2|3-MGCA type IV (3-MGCA-4) (formerly)|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|TMEM70-related mitochondrial encephalo-cardio-myopathy|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|TMEM70 defect|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency											OMIM:614052|MESH:C567528|SCTID:718212006|GARD:0012965|Orphanet:1194|ICD10:G71.3|DOID:0060331																		owl:Class
HGNC:26050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022394	biolink:NamedThing	cervical intraepithelial neoplasia		mondoexuq1wtf	Neoplasm, Cervical Intraepithelial|Intraepithelial Neoplasia of Cervix|Cervical Intraepithelial Neoplasms|Neoplasms, Cervical Intraepithelial|Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasia, Cervical|Cervical Intraepithelial Neoplasia|Uterine Cervix Intraepithelial Neoplasia|NEOPL CERVICAL INTRAEPITHELIAL|Neoplasia, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Intraepithelial Neoplasia of the Uterine Cervix|Cervix Uteri Intraepithelial Neoplasia|Intraepithelial Neoplasia of Cervix Uteri|Intraepithelial Neoplasia of the Cervix|Cervical Intraepithelial Neoplasm|Intraepithelial Neoplasia of Uterine Cervix|Intraepithelial Neoplasia of the Cervix Uteri|Intraepithelial Neoplasm, Cervical|Cervical Dysplasia|Cervical intraepithelial neoplasia											SCTID:285636001|GARD:0009244|MEDGEN:60214|UMLS:C0206708																		owl:Class
HP:0030159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013170	biolink:NamedThing	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13	mondoexuq1wtf	autosomal recessive cutis laxa type 1C|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|cutis laxa, autosomal recessive, type IC|cutis laxa, autosomal recessive, type 1C|autosomal recessive cutis laxa type IC|ARCL1C|Urban-Rifkin-Davis syndrome											ICD10:Q82.8|PMID:19836010|UMLS:C2750804|DOID:0070139|Orphanet:221145|MESH:C567716|OMIM:613177																		owl:Class
HGNC:6717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018665	biolink:NamedThing	X-linked acrogigantism due to a point mutation		mondoexuq1wtf	X-LAG (X-linked acrogigantism) due to a point mutation|familial infantile gigantism due to a point mutation											ICD10:E22.0|UMLS:CN237730|Orphanet:448348																		owl:Class
HGNC:8957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20580	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014954	biolink:NamedThing	Ehlers-Danlos syndrome, periodontal type 2		mondoexuq1wtf	Ehlers-Danlos syndrome, periodontal type, 2|EDSPD2											OMIM:617174																		owl:Class
MONDO:0001557	biolink:NamedThing	olecranon bursitis	A bursitis that involves the olecranon.	mondoexuq1wtf	bursitis of elbow|capped elbow|elbow bursitis (& olecranon)|bursitis of olecranon|miner's elbow|shoe boil|elbow bursitis|bursitis of elbow region|olecranon bursitis|Miners' elbow											COHD:134452|DOID:12581|SCTID:425940002|UMLS:C3887895|ICD9:726.33|UMLS:C0263962|ICD10:M70.2																		owl:Class
UBERON:0001490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018854	biolink:NamedThing	acquired purpura fulminans	A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.	mondoexuq1wtf	acquired purpura fulminans|acquired PF											MedDRA:10037556|SCTID:725157006|ICD10:D65|UMLS:C4510896|UMLS:CN205163|Orphanet:49566																		owl:Class
NCBITaxon:11723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012496	biolink:NamedThing	Koolen de Vries syndrome	Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.	mondoexuq1wtf	Koolen-De Vries syndrome|KDVS|KANSL1-related intellectual disability syndrome|Koolen-DE Vries syndrome|microdeletion 17q21.31 syndrome|17q21.31 deletion syndrome|microdeletion 17Q21.31 syndrome|KdVS|chromosome 17q21.31 microdeletion syndrome|chromosome 17q21.31 deletion syndrome|chromosome 17Q21.31 deletion syndrome					Editor note: DOID classifies as non-syndromic but we classify as syndromic						UMLS:C1864871|OMIM:610443|DOID:0070076|SCTID:717338006|DOID:0050880|GARD:0010727|UMLS:CN776874|MESH:C566476|Orphanet:96169|ICD10:Q93.5																		owl:Class
HGNC:24565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10805	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022425	biolink:NamedThing	alpha-thalassemia-abnormal morphogenesis		mondoexuq1wtf	Abuelo Forman Rubin syndrome|homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects											GARD:0000362														https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis				owl:Class
HGNC:2214	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009433	biolink:NamedThing	hypoplastic left heart syndrome 1	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.	mondoexuq1wtf	hypoplastic left heart syndrome type 1|hypoplastic left heart syndrome caused by mutation in GJA1|HLHS|HLHS1|hypoplastic left heart syndrome 1|GJA1 hypoplastic left heart syndrome											UMLS:CN031062|OMIM:241550																		owl:Class
HGNC:4274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009509	biolink:NamedThing	Landau-Kleffner syndrome	Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.	mondoexuq1wtf	acquired epileptiform aphasia|LKS|continuous Spike and waves during slow-Wave sleep syndrome|Landau-Kleffner syndrome|epilepsy, focal, with speech disorder and with or without mental retardation|acquired aphasia with convulsive disorder|FESD|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|epilepsy, focal, with speech disorder and with or without intellectual disability|Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|benign epilepsy of childhood with centrotemporal spikes|aphasia, acquired, with epilepsy|acquired epileptic aphasia											NCIT:C84806|EFO:1001010|SCTID:230438007|ICD10:G40.8|OMIM:245570|MedDRA:10052083|MedDRA:10052075|MESH:D018887|UMLS:C0282512|GARD:0006855|Orphanet:98818|DOID:2538														https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome				owl:Class
HGNC:4585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009251	biolink:NamedThing	fructose-1,6-bisphosphatase deficiency	Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.	mondoexuq1wtf	fructose 1,6 diphosphatase deficiency|fructose-1,6-diphosphatase deficiency|baker-Winegrad disease|fructose 1 phosphate aldolase deficiency|fructose-1,6-bisphosphatase deficiency|FBP1D											GARD:0002400|DOID:5204|SCTID:28183005|UMLS:C0016756|NCIT:C128119|OMIM:229700|ICD10:E74.19|ICD10:E74.1|Orphanet:348																		owl:Class
HGNC:3606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030708	biolink:NamedThing	Trichomonas cervicitis	An cervicitis (disease) caused by infection with Trichomonas vaginalis.	mondoexuq1wtf	Trichomonas cervicitis|Trichomonas vaginalis caused cervicitis (disease)|Trichomonas vaginalis cervicitis (disease)											NCIT:C35588																		owl:Class
NCBITaxon:5722	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6345	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020203	biolink:NamedThing	pigmented conjunctival lesion		mondoexuq1wtf												Orphanet:98615																		owl:Class
UBERON:0001353	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:523103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8819	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11311	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007599	biolink:NamedThing	factor 9 and Factor XI, combined deficiency of		mondoexuq1wtf	factor IX and factor XI, combined deficiency OF|multiple coagulation Factor deficiency 6|familial multiple coagulation Factor deficiency 6											MESH:C565022|UMLS:C1851374|OMIM:134540																		owl:Class
HP:0001929	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008668	biolink:NamedThing	von Willebrand disease 1	Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).	mondoexuq1wtf	VON WILLEBRAND disease, type 1|von Willebrand's disease type 1|von Willebrand disease type 1|VWD type 1|von willebrand's disease 1|VWD1|von Willebrand disease type I|VWD, type 1|Von Willebrand disease, type 1											MESH:D056725|NCIT:C131685|DOID:0060573|UMLS:C1264039|ICD10:D68.0|SCTID:128106003|Orphanet:166078|OMIM:193400																		owl:Class
MONDO:0014854	biolink:NamedThing	autosomal dominant nonsyndromic deafness 66	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.	mondoexuq1wtf	DFNA66|deafness, autosomal dominant 66|autosomal dominant nonsyndromic deafness type 66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|deafness, autosomal dominant type 66|CD164 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 66											ICD10:H90.3|UMLS:C4283893|OMIM:616969|DOID:0110587																		owl:Class
HGNC:1632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012345	biolink:NamedThing	acral peeling skin syndrome	Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.	mondoexuq1wtf	acral peeling skin syndrome|localized deciduous skin|peeling skin syndrome 2|acral PSS|peeling skin syndrome, acral type|localized PSS|peeling skin syndrome type 2|acral deciduous skin|PSS2											SCTID:709416009|GARD:0012863|Orphanet:263534|UMLS:C1853354|ICD10:Q80.8|OMIM:609796|MESH:C536316														https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome				owl:Class
HGNC:11781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014880	biolink:NamedThing	Duane retraction syndrome 3 with or without deafness	Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.	mondoexuq1wtf	Duane retraction syndrome 3 with or without deafness|DURS3|MAFB Duane retraction syndrome|Duane syndrome type 3|Duane retraction syndrome 3|Duane retraction syndrome caused by mutation in MAFB											OMIM:617041|GARD:0010691|UMLS:C4310752														https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3				owl:Class
HGNC:6408	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006928	biolink:NamedThing	proliferative vitreoretinopathy	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.	mondoexuq1wtf	ADNIV|autosomal dominant neovascular inflammatory vitreoretinopathy|vitreoretinopathy, neovascular inflammatory|vitreoretinopathy, neovascular inflammatory, autosomal dominant|VRNI|retinitis proliferans											MedDRA:10057896|EFO:1001129|MESH:D018630|ICD10:H35.2|SCTID:232016005|OMIM:193235|Orphanet:329211|UMLS:C0242852|DOID:9719|ICD9:362.29																		owl:Class
HGNC:1482	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014276	biolink:NamedThing	combined immunodeficiency due to CD3gamma deficiency	Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.	mondoexuq1wtf	CD3gamma deficiency|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|CD3 deficiency|immunodeficiency type 17|IMD17|immunodeficiency 17|CD3-gamma deficiency					Editor note: check GARD						Orphanet:169082|UMLS:C3810107|DOID:0060018|OMIM:615607|ICD10:D81.2|SCTID:725135004|UMLS:C4510864|GARD:0009521														https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency				owl:Class
HP:0004430	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018695	biolink:NamedThing	avian influenza	Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.	mondoexuq1wtf	avian flu|bird flu											DOID:4492|MESH:D005585|EFO:0005222|ICD10:J09.X|COHD:314979|UMLS:C0016627|UMLS:CN237762|SCTID:55604004|ICD10:J09|Orphanet:454836																		owl:Class
NCBITaxon:11320	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000987	biolink:NamedThing	cholesterolosis of gallbladder	A disorder characterized by a change in the gallbladder wall due to excess cholesterol.	mondoexuq1wtf	strawberry gallbladder											ICD9:575.6|DOID:10254|UMLS:C0152456|COHD:197318|ICD10:K82.4|SCTID:61565001																		owl:Class
UBERON:0004781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011351	biolink:NamedThing	autosomal recessive nonsyndromic deafness 21	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	mondoexuq1wtf	deafness, autosomal recessive type 21|deafness, autosomal recessive 21|autosomal recessive nonsyndromic deafness type 21|autosomal recessive nonsyndromic deafness caused by mutation in tecta|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|TECTA autosomal recessive nonsyndromic deafness|autosomal recessive deafness 21|tecta autosomal recessive nonsyndromic deafness|DFNB21											DOID:0110479|MESH:C566353|UMLS:C1863655|ICD10:H90.3|OMIM:603629																		owl:Class
HGNC:11720	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033004	biolink:NamedThing	polycystic kidney disease 4	A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.	mondoexuq1wtf	polycystic kidney disease 4 with or without hepatic disease|PKD3, formerly|polycystic kidney disease, infantile, type 1|PKD4|polycystic kidney and hepatic disease 1|polycystic kidney disease 4 with or without polycystic liver disease|PKD3|hepatic fibrosis, congenital|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4											OMIM:263200|DOID:0080212																		owl:Class
MONDO:0001558	biolink:NamedThing	Potter sequence	A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.	mondoexuq1wtf	oligohydramnios sequence|Potter syndrome|Potter's sequence|Potter's syndrome					Editor note: check for subtypes, relationship to OMIM:263200						DOID:12594|SCTID:41962002|GARD:0004462|ICD10:Q60.6|NCIT:C40435|UMLS:C0178426																		owl:Class
MONDO:0014632	biolink:NamedThing	hypomyelinating leukodystrophy 10	Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.	mondoexuq1wtf	leukodystrophy, hypomyelinating, 10|HLD10|PYCR2 leukodystrophy|hypomyelinating leukodystrophy type 10|leukodystrophy caused by mutation in PYCR2|leukodystrophy, hypomyelinating, type 10											UMLS:C4225332|DOID:0060788|OMIM:616420																		owl:Class
HGNC:30262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5273	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2312	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr16	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:447135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:56211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012607	biolink:NamedThing	asthma-related traits, susceptibility to, 5	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.	mondoexuq1wtf	inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5|asthma-related traits, susceptibility to, 5|IRAK3 inherited susceptibility to asthma											OMIM:611064																		owl:Class
HGNC:17020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014860	biolink:NamedThing	polycystic liver disease 2	Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.	mondoexuq1wtf	PCLD2|polycystic liver disease 2|polycystic liver disease 2; PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease type 2											UMLS:C4310769|OMIM:617004																		owl:Class
HGNC:21082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012595	biolink:NamedThing	leprosy, susceptibility to, 4	Any leprosy in which the cause of the disease is a mutation in the LTA gene.	mondoexuq1wtf	leprosy, susceptibility to, type 4|leprosy, early-onset, susceptibility to|LPRS4|susceptibility to leprosy 4|leprosy, susceptibility to, 4|LTA leprosy|leprosy caused by mutation in LTA											OMIM:610988																		owl:Class
HGNC:6709	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013076	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 7		mondoexuq1wtf	attention Deficit-hyperactivity disorder, susceptibility to, type 7|susceptibility to attention deficit-hyperactivity disorder 7|attention deficit-hyperactivity disorder, susceptibility to, 7|Adhd7											OMIM:613003																		owl:Class
MONDO:0005302	biolink:NamedThing	attention deficit hyperactivity disorder, inattentive type	A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.	mondoexuq1wtf	attention deficit hyperactivity disorder, predominantly inattentive type|ADD|ADHD|attention deficit disorder|attention deficit hyperactivity disorder, inattentive/distractible type|hyperkinetic disorder											SCTID:406506008|COHD:438409|ICD9:314.01|DOID:1094|NCIT:C35092|MESH:D001289|ICD9:314.9|EFO:0003888|ICD9:314.8																		owl:Class
HGNC:11918	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6814	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022650	biolink:NamedThing	cardiomyopathy diabetes deafness		mondoexuq1wtf												GARD:0001103														https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness				owl:Class
MONDO:0004994	biolink:NamedThing	cardiomyopathy	A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.	mondoexuq1wtf	Cardiomyopathies|cardiomyopathy											EFO:0000318|UMLS:C0878544|SCTID:85898001|ICD10:I42|Orphanet:167848|ICD9:425.9|ICD10:I42.9|ICD10:I51.5|GARD:0011958|COHD:321319|NCIT:C34830|DOID:0050700|MedDRA:10007636|ICD9:425.4|ICD9:425|MESH:D009202																		owl:Class
MONDO:0008769	biolink:NamedThing	neuronal ceroid lipofuscinosis 2	A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	mondoexuq1wtf	CLN2 disease, juvenile (subtype)|ceroid lipofuscinosis, neuronal, type 2|ceroid lipofuscinosis, neuronal, 2|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|CLN2 disease, late infantile (subtype)|CLN2|neuronal ceroid lipofuscinosis 2 variable age at onset|CLN2 disease|late infantile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in TPP1|TPP1 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 2|Jansky-Bielschowsky disease|neuronal ceroid lipofuscinosis, late infantile											ICD10:E75.4|DOID:0110726|NCIT:C85864|Orphanet:228349|OMIM:204500|GARD:0003045																		owl:Class
HGNC:2073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011752	biolink:NamedThing	nephronophthisis 4	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.	mondoexuq1wtf	nephronophthisis 4|nephronophthisis 4, juvenile|nephronophthisis type 4|juvenile nephronophthisis 4|NPHP4 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in NPHP4|NPHP4											SCTID:446989009|MESH:C564640|UMLS:C2959367|UMLS:C1847013|DOID:0111115|OMIM:606966																		owl:Class
HP:0001289	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012349	biolink:NamedThing	spondylocostal dysostosis 3, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.	mondoexuq1wtf	spondylocostal dysostosis 3, autosomal recessive|SCDO3|LFNG autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 3|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3											OMIM:609813|UMLS:C1853296|GARD:0004973																		owl:Class
HGNC:6560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10994	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044083	biolink:NamedThing	alternariosis	Opportunistic fungal infection by a member of Alternaria genus.	mondoexuq1wtf	Alternarioses, dermal|Alternariosis, subcutaneous|dermal Alternarioses|subcutaneous Alternarioses|Alternariosis, cutaneous|cutaneous Alternariosis|subcutaneous Alternariosis|dermal Alternariosis|Alternarioses, cutaneous|cutaneous alternariosis|Alternarioses, subcutaneous|Alternarioses|Alternariosis, dermal|cutaneous Alternarioses											SCTID:238436005|MESH:D060487|EFO:1001893																		owl:Class
NCBITaxon:5598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012147	biolink:NamedThing	coronary heart disease, susceptibility to, 5	Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.	mondoexuq1wtf	Chds5|coronary heart disease, susceptibility to, type 5|coronary artery disease caused by mutation in KALRN|KALRN coronary artery disease|susceptibility to coronary heart disease 5|coronary artery disease, early-onset|coronary heart disease, susceptibility to, 5											OMIM:608901																		owl:Class
MONDO:0013635	biolink:NamedThing	Adams-Oliver syndrome 2	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.	mondoexuq1wtf	Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome 2|DOCK6 Adams-Oliver syndrome|Adams-Oliver syndrome type 2|AOS2											OMIM:614219|UMLS:C3280182																		owl:Class
HGNC:19189	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013331	biolink:NamedThing	factor 5 and Factor VIII, combined deficiency of, 2	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.	mondoexuq1wtf	combined deficiency of factor V and factor VIII caused by mutation in MCFD2|F5F8D2|factor V and factor VIII, combined deficiency of, 2|factor 5 and Factor VIII, combined deficiency of, type 2|MCFD2 combined deficiency of factor V and factor VIII											OMIM:613625|UMLS:C3150889																		owl:Class
HGNC:18451	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007032	biolink:NamedThing	prune belly syndrome	Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.	mondoexuq1wtf	eagle-Barret syndrome|prune belly syndrome|PBS|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|triad syndrome|Obrinsky syndrome|abdominal muscle deficiency syndrome|eagle-Barrett syndrome|syndrome of agenesis of abdominal muscles|Obrisnksy syndrome											OMIM:100100|ICD9:756.71|MESH:D011535|MedDRA:10051025|ICD10:Q79.4|Orphanet:2970|DOID:0060889|SCTID:5187006|GARD:0007479|NCIT:C85033|UMLS:C0033770																		owl:Class
HGNC:1952	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0001571	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001733	biolink:NamedThing	occlusion of tributary of retinal vein		mondoexuq1wtf	venous tributary occlusion of retina|venous tributary (branch) occlusion of retina|venous tributary branch occlusion of retina											ICD9:362.36|DOID:13514																		owl:Class
UBERON:0036300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000534	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012650	biolink:NamedThing	Cernunnos-XLF deficiency	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	mondoexuq1wtf	SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|Nhej1 syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|Cernunnos deficiency|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|NHEJ1 deficiency|Cernunnos XLFD											SCTID:720853005|UMLS:C1969799|MESH:C566970|OMIM:611291|Orphanet:169079|ICD10:D81.1																		owl:Class
HGNC:25737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009968	biolink:NamedThing	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss		mondoexuq1wtf	autosomal recessive distal renal tubular acidosis with hearing loss|distal renal tubular acidosis co-occurrent with sensorineural deafness|renal tubular acidosis, distal, with progressive nerve deafness|RTA with progressive nerve deafness|autosomal recessive distal renal tubular acidosis with deafness|renal tubular acidosis with deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|AR dRTA with hearing loss|renal tubular acidosis type 1b|AR dRTA wth deafness|renal tubular acidosis progressive nerve deafness|renal tubular acidosis with progressive nerve deafness											UMLS:C4302514|ICD9:588.89|MESH:C562897|OMIM:267300|SCTID:722468005|ICD9:389.8|UMLS:C0403554|Orphanet:93611|SCTID:236532003|GARD:0004666																		owl:Class
HP:0000407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0061547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014464	biolink:NamedThing	progressive encephalopathy with leukodystrophy due to DECR deficiency	Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.	mondoexuq1wtf	DECR deficiency with hyperlysinemia|dienoyl-CoA reductase deficiency|2,4-dienoyl-CoA reductase deficiency|2,4-alpha dienoyl-CoA reductase deficiency|DECRD											ICD10:G31.8|UMLS:C1857252|MESH:C565624|GARD:0010327|Orphanet:431361|OMIM:616034																		owl:Class
HGNC:26404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20670	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008443	biolink:NamedThing	spastic paraplegia-precocious puberty syndrome	Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.	mondoexuq1wtf	familial spastic paraplegia, mental retardation, and precocious puberty|familial spastic paraplegia, intellectual disability, and precocious puberty|precocious puberty with spastic paraplegia|spastic paraplegia with precocious puberty											UMLS:C1866850|Orphanet:2826|MESH:C536874|OMIM:182820|GARD:0004918																		owl:Class
NCBITaxon:2169992	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004599	biolink:NamedThing	barbiturate abuse	A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.	mondoexuq1wtf												DOID:8519|SCTID:231462006|ICD9:305.43																		owl:Class
CHEBI:29745	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012507	biolink:NamedThing	retinal cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.	mondoexuq1wtf	retinal cone dystrophy 4|RCD4|retinal cone dystrophy type 4|cone dystrophy caused by mutation in CACNA2D4|CACNA2D4 cone dystrophy											UMLS:C1864849|MESH:C566470|GARD:0010650|OMIM:610478														https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4				owl:Class
HGNC:20202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11654	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0060348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008054	biolink:NamedThing	juvenile dermatomyositis	Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.	mondoexuq1wtf	childhood dermatomyositis|myopathy, familial idiopathic inflammatory|JPM|myositis|JDM|juvenile myositis|myoseptumitis|inflammation of myoseptum|juvenile dermatomyositis|childhood type dermatomyositis|juvenile DM|myoseptum inflammation											SCTID:1212005|UMLS:C2931785|GARD:0006805|MedDRA:10008521|EFO:0000557|DOID:14203|ICD10:M33.0|Orphanet:93672|NCIT:C27576|MESH:C000598745														https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis				owl:Class
UBERON:2001089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:93	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007908	biolink:NamedThing	multiple symmetric lipomatosis	Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	mondoexuq1wtf	lipomatosis, familial benign cervical|Launois-Bensaude syndrome|cervical symmetrical lipomatosis|cephalothoracic lipodystrophy|Launois-Bensaude lipomatosis|lipodystrophy, cephalothoracic|Madelung disease|benign symmetrical lipomatosis|familial benign cervical lipomatosis|Madelung's disease|lipomatosis, multiple symmetric|familial symmetric lipomatosis|multiple symmetrical lipomatosis|multiple symmetric lipomatosis|MSL|Madelung's neck|Launois-Bensaude's lipomatosis											SCTID:238902007|EFO:1000737|GARD:0006957|NCIT:C4392|Orphanet:2398|UMLS:CN201658|UMLS:C0024445|ICD10:E88.8|DOID:14116|OMIM:151800|UMLS:C0023804														https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis				owl:Class
MONDO:0012081	biolink:NamedThing	15q11q13 microduplication syndrome	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	mondoexuq1wtf	trisomy 15q11-q13|15q11-q13 microduplication syndrome|dup(15)(q11q13)|chromosome 15Q11.2 Duplication syndrome|Duplication 15Q11-q13 syndrome|15q11q13 duplication syndrome|autism, susceptibility to, 4|trisomy 15q11q13|15q11-q13 duplication syndrome|chromosome 15q11-q13 DUPLICATION syndrome											Orphanet:238446|OMIM:608636|UMLS:C2675336|SCTID:719427001|UMLS:C4304726|ICD10:Q92.3|NCIT:C126692																		owl:Class
MONDO:0005260	biolink:NamedThing	autism	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	mondoexuq1wtf	autism, susceptiblity to|autism (disease)|autism spectrum disorder|autistic disorder|childhood autism|autism|autistic disorder of childhood onset|Kanner's syndrome|infantile autism		autism (disease)									DOID:12849|NCIT:C97161|ICD10:F84.0|ICD9:299.0|HP:0000717|EFO:0003758|OMIMPS:209850|MESH:D001321																		owl:Class
HGNC:404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009615	biolink:NamedThing	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	mondoexuq1wtf	methylmalonic aciduria III|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonyl-Coa racemase deficiency|methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency|methylmalonic aciduria III, formerly|methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|MCEE deficiency|methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency											ICD10:E71.1|MESH:C565386|SCTID:765137006|UMLS:C1855100|Orphanet:308425|OMIM:251120																		owl:Class
HGNC:16732	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008301	biolink:NamedThing	Guttmacher syndrome	Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.	mondoexuq1wtf	preaxial deficiency-postaxial polydactyly-hypospadias syndrome|preaxial deficiency, postaxial polydactyly, and hypospadias|autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency, postaxial polydactyly and hypospadias|Guttmacher syndrome											MESH:C538278|SCTID:722452004|ICD10:Q87.2|Orphanet:2957|OMIM:176305|DOID:0111544|UMLS:C1867801|GARD:0004470																		owl:Class
HGNC:5102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004684	biolink:NamedThing	plantar fibromatosis	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	mondoexuq1wtf	plantar part of pes superficial fibromatosis|plantar fascial fibromatosis|Dupuytren's contracture of foot|superficial fibromatosis of plantar part of pes|plantar fibromatosis|Ledderhose's disease|plantar part of pes superficial Fibromatosis|superficial Fibromatosis of plantar part of pes											ICD10:M72.2|SCTID:13370002|NCIT:C4680|ICD9:728.71|DOID:8936|EFO:1000481																		owl:Class
UBERON:0008338	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020778	biolink:NamedThing	cone-rod dystrophy and hearing loss 1		mondoexuq1wtf	CONE-ROD DYSTROPHY AND HEARING LOSS 1|Crdhl|CRDHL1											OMIM:617236																		owl:Class
HGNC:25740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001551	biolink:NamedThing	ulceration of vulva		mondoexuq1wtf	ulceration of vulva|vulvar ulceration											ICD10:N76.6|ICD9:616.51|COHD:253815|UMLS:C0156339|ICD10:N77.0|ICD9:616.50|DOID:12566|SCTID:68640004																		owl:Class
GO:0007601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700085	biolink:NamedThing	pentasomy	A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
SO:0000055	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:35792	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043479	biolink:NamedThing	adenoviridae infectious disease	An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.	mondoexuq1wtf	Adenoviridae infectious disease|adenoviridae infectious disease|Adenoviridae infection|disease due to adenovirus|infections, adenovirus|Adenoviridae disease or disorder|Adenoviridae caused disease or disorder|infections, Adenoviridae|adenovirus infection|disease caused by adenovirus|infection, Adenoviridae|adenovirus infections|infection, adenovirus					Editor note: check adenovirus vs adenoviridae						SCTID:25225006|UMLS:C0001486|NCIT:C115149|MESH:D000257																		owl:Class
NCBITaxon:10508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020021	biolink:NamedThing	diaphragmatic or abdominal wall malformation		mondoexuq1wtf												Orphanet:98043																		owl:Class
MONDO:0014485	biolink:NamedThing	pontocerebellar hypoplasia, type 1C	Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.	mondoexuq1wtf	hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|pontocerebellar hypoplasia, type 1C|EXOSC8 pontocerebellar hypoplasia type 1|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|PCH1C											UMLS:C4015160|OMIM:616081																		owl:Class
HGNC:17035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000750	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017801	biolink:NamedThing	atypical Meigs syndrome		mondoexuq1wtf	atypical Demons-Meigs syndrome|incomplete Meigs syndrome											UMLS:CN203760|Orphanet:314466|ICD10:D27																		owl:Class
HP:0000992	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009310	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.	mondoexuq1wtf	CGD, autosomal recessive cytochrome B-positive, type 2|neutrophil cytosol Factor 2, deficiency of|NCF2 chronic granulomatous disease|chronic granulomatous disease caused by mutation in NCF2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|granulomatous disease, chronic, due to Ncf2 deficiency|P67-PHOX, deficiency of|CDG2|Ncf2, deficiency of											UMLS:C1856245|OMIM:233710|DOID:0070191|MESH:C565531																		owl:Class
HGNC:7661	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017940	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	mondoexuq1wtf	CMT2 due to KIF5A mutation											Orphanet:324611|UMLS:CN204086|SCTID:764730007|ICD10:G60.0																		owl:Class
HGNC:6323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012067	biolink:NamedThing	asthma-related traits, susceptibility to, 2	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.	mondoexuq1wtf	NPSR1 inherited susceptibility to asthma|asthma-related traits, susceptibility to, 2|ASRT2|inherited susceptibility to asthma caused by mutation in NPSR1|asthma-related traits, susceptibility to, type 2											UMLS:C1837811|OMIM:608584																		owl:Class
HGNC:23631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013401	biolink:NamedThing	hereditary spastic paraplegia 51	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.	mondoexuq1wtf	cerebral palsy, spastic quadriplegic, 4, formerly|hereditary spastic paraplegia caused by mutation in AP4E1|autosomal dominant spastic paraplegia 51|AP4E1 hereditary spastic paraplegia|hereditary spastic paraplegia type 51|spastic paraplegia 51, autosomal recessive|spastic quadriplegic cerebral palsy 4|cerebral palsy, spastic quadriplegic, 4|CPSQ4|SPG51											DOID:0110803|UMLS:C3151056|OMIM:613744|GARD:0010999																		owl:Class
HGNC:573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001625	biolink:NamedThing	corpus luteum cyst	A ovarian cyst (disease) that involves the corpus luteum.	mondoexuq1wtf	ovarian cyst (disease) of corpus luteum|corpus luteum ovarian cyst (disease)											ICD9:620.1|DOID:13050|COHD:436164|SCTID:386762009|ICD10:N83.1																		owl:Class
UBERON:0002512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012136	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, neonatal form	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.	mondoexuq1wtf	CPT2, neonatal form|Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|CPTII, lethal systemic form|Cpt2 deficiency, lethal neonatal|CPT 2 deficiency, lethal neonatal|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, antenatal|CPT2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|CPTII, neonatal form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|Carnitine Palmitoyltransferase 2 deficiency, neonatal											OMIM:608836|UMLS:C1833518|ICD10:E71.3|Orphanet:228308|MESH:C563463																		owl:Class
HGNC:2330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004381	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.	mondoexuq1wtf	pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma											NCIT:C41249|UMLS:C1518868|ICDO:8453/0|SCTID:473418001|DOID:7851																		owl:Class
UBERON:0036301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005953	biolink:NamedThing	scirrhous adenocarcinoma	An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.	mondoexuq1wtf	FIBROADENOCARCINOMA, malignant|scirrhous carcinoma|scirrhous adenocarcinoma (morphologic abnormality)|fibrocarcinoma|adenocarcinoma with productive fibrosis|scirrhous adenocarcinoma											UMLS:C0007135|MESH:D002293|EFO:0007478|DOID:4024|ICDO:8141/3|NCIT:C2928																		owl:Class
CL:0000499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018602	biolink:NamedThing	necrotizing soft tissue infection		mondoexuq1wtf	NSTI											ICD9:136.9|SCTID:443928008|UMLS:CN237632|UMLS:C2732890|Orphanet:440368|ICD9:729.99|ICD10:M72.6																		owl:Class
UBERON:0000379	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007700	biolink:NamedThing	hawkinsinuria	Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.	mondoexuq1wtf	4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|hawkinsinuria|4-HPPD deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency											OMIM:140350|UMLS:C2931042|GARD:0005668|MESH:C535845|SCTID:414380008|Orphanet:2118|ICD10:E70.2|DOID:0111362														https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria				owl:Class
HGNC:5147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024553	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 1	Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.	mondoexuq1wtf	myopathy, lactic acidosis, and sideroblastic anemia 1|MLASA1|myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|mitochondrial myopathy and sideroblastic anemia|PUS1 myopathy, lactic acidosis, and sideroblastic anemia											OMIM:600462|DOID:0111185|UMLS:C1838103																		owl:Class
HGNC:15508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018391	biolink:NamedThing	male infertility with spermatogenesis disorder		mondoexuq1wtf												Orphanet:399775|UMLS:CN227339|ICD10:N46|GARD:0012512																		owl:Class
GO:0007283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010299	biolink:NamedThing	hypoxanthine guanine phosphoribosyltransferase partial deficiency	Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.	mondoexuq1wtf	hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|Kelley-Seegmiller syndrome|HPRT1 partial deficiency|gout, HPRT-related|HPRT-related hyperuricemia|HPRT deficiency, partial|HPRT-related gout|HPRT partial deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I|KELLEY-Seegmiller syndrome|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|HPRT deficiency, grade I|Hprt1 deficiency, partial											MESH:C562583|ICD10:E79.8|Orphanet:79233|SCTID:238007004|ICD9:277.2|UMLS:C0268117|OMIM:300323																		owl:Class
MONDO:0021535	biolink:NamedThing	pancreatic neuroendocrine tumor G1	A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.	mondoexuq1wtf	pancreatic neuroendocrine tumor G1|pancreatic NET G1|pancreas neuroendocrine tumor, well differentiated, low grade|pancreas NET G1|pancreas neuroendocrine neoplasm G1|pancreas carcinoid tumor|grade 1 neuroendocrine neoplasm of pancreas											NCIT:C95584|SCTID:254613007																		owl:Class
MONDO:0001332	biolink:NamedThing	palindromic rheumatism	A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.	mondoexuq1wtf	Hench's syndrome|Hench-Rosenberg syndrome											MESH:C538103|ICD9:719.31|ICD9:719.33|ICD9:719.38|ICD9:719.30|ICD9:719.32|ICD9:719.36|ICD9:719.3|UMLS:C0085574|DOID:1166|ICD10:M12.3|COHD:76196|GARD:0007304|SCTID:50442003|ICD10:M12.30																		owl:Class
HP:0001369	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012434	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 10	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	mondoexuq1wtf	arrhythmogenic right ventricular dysplasia type 10|ARVC10|arrhythmogenic right ventricular dysplasia, familial, type 10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|arrhythmogenic right ventricular dysplasia, familial, 10|familial arrhythmogenic right ventricular dysplasia 10|DSG2 arrhythmogenic right ventricular cardiomyopathy|ARVD10|arrhythmogenic right ventricular cardiomyopathy 10											ICD10:I42.8|UMLS:C1857777|MESH:C565707|DOID:0110081|OMIM:610193																		owl:Class
HGNC:3049	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015022	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies and ptosis		mondoexuq1wtf	IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis|intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP											UMLS:C4310617|OMIM:617333|EFO:0009070																		owl:Class
HGNC:14255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NBO:0000455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013653	biolink:NamedThing	Parkinson disease 18, autosomal dominant, susceptibility to	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.	mondoexuq1wtf	susceptibility to autosomal dominant Parkinson disease 18|EIF4G1 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in EIF4G1|Parkinson disease 18, autosomal dominant, susceptibility to|PARK18											UMLS:C3280271|OMIM:614251																		owl:Class
HGNC:3296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019915	biolink:NamedThing	maternal uniparental disomy of chromosome 14	Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).	mondoexuq1wtf	UPD(14)mat|maternal uniparental disomy of chromosome type 14											Orphanet:96184|ICD10:Q99.8																		owl:Class
OBO:CHR_9606-chr14	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010796	biolink:NamedThing	Parkinson disease, mitochondrial		mondoexuq1wtf	Parkinson disease, mitochondrial											MESH:C564015|UMLS:C1838867|OMIM:556500																		owl:Class
HGNC:7499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007286	biolink:NamedThing	cataract 30	A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.	mondoexuq1wtf	cataract type 30|cataract 30, pulverulent|cataract 30|CTRCT30|cataract Coppock-like|cataract 30 pulverulent|cataract 30, multiple types											ICD10:Q12.0|DOID:0110248|OMIM:116300|MESH:C566157|UMLS:C3805411																		owl:Class
HGNC:12692	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013577	biolink:NamedThing	Lipedema	Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.	mondoexuq1wtf	lipedema|Lipedema (disease)		Lipedema (disease)									ICD10:E65|Orphanet:77243|OMIM:614103|MESH:D065134|SCTID:234102003|MedDRA:10063955|HP:0100695																		owl:Class
GO:0045576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014930	biolink:NamedThing	intellectual disability, autosomal recessive 56	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.	mondoexuq1wtf	ZC3H14 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 56|intellectual disability, autosomal recessive 56|mental retardation, autosomal recessive 56|MRT56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|intellectual disability, autosomal recessive type 56											OMIM:617125|UMLS:C4310703																		owl:Class
HGNC:20509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018912	biolink:NamedThing	Cushing syndrome	Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.	mondoexuq1wtf	hyperadrenocorticism|pituitary basophilism|cortisol Excess|adrenal hyperfunction resulting from pituitary ACTH excess|Cushing's syndrome|Cushing syndrome|hypercortisolism|suprarenogenic syndrome|nodular primary adrenocortical dysplasia|ectopic adrenocorticotropic hormone syndrome					Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form						ICD10:E24.9|MedDRA:10020562|MedDRA:10011652|MedDRA:10020564|MESH:D003480|NCIT:C2969|Orphanet:553|ICD10:E24.0|ICD10:E24.3|ICD10:E24|ICD10:E24.8|MedDRA:10020610|ICD10:E24.4|ICD10:E24.2|GARD:0006224|UMLS:C0010481|ICD10:E24.1|EFO:0003099|ICD9:255.0																		owl:Class
ECTO:0000259	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007796	biolink:NamedThing	hypoparathyroidism, familial isolated 1		mondoexuq1wtf	FIH|FIH1|hypoparathyroidism, autosomal dominant|hypoparathyroidism, familial isolated|hypoparathyroidism familial isolated|hypoparathyroidism, autosomal recessive|hypoparathyroidism, familial isolated 1											SCTID:237657009|OMIM:146200																		owl:Class
HGNC:9606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020181	biolink:NamedThing	mesenchymatous palpebral tumor		mondoexuq1wtf												UMLS:CN207041|Orphanet:98591																		owl:Class
MONDO:0008514	biolink:NamedThing	syndactyly type 3	Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.	mondoexuq1wtf	syndactyly, type 3|syndactyly of fingers 4 and 5|Ring and Little finger syndactyly|syndactyly, type III|syndactyly of the ring and little finger|non-syndromic syndactyly caused by mutation in GJA1|syndactyly of fingers four and five|SD3|GJA1 non-syndromic syndactyly|Sdty3											UMLS:C1861366|Orphanet:93404|SCTID:715725001|OMIM:186100|MESH:C538154|GARD:0005088|ICD10:Q70.1														https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3				owl:Class
MONDO:0000813	biolink:NamedThing	cardiac tuberculosis	Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.	mondoexuq1wtf	cardiovascular tuberculosis											UMLS:C0041308|EFO:1001442|MESH:D014381|DOID:0060570																		owl:Class
UBERON:0000948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:13373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013044	biolink:NamedThing	atypical hemolytic-uremic syndrome with thrombomodulin anomaly		mondoexuq1wtf	hemolytic uremic syndrome, atypical, susceptibility to, type 6|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly|AHUS6|susceptibility to atypical hemolytic uremic syndrome 6|aHUS with thrombomodulin anomaly|atypical HUS with thrombomodulin anomaly|Ahus, susceptibility to, 6|D-HUS with thrombomodulin anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 6											ICD10:D58.8|Orphanet:217023|OMIM:612926																		owl:Class
HGNC:11784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010020	biolink:NamedThing	congenital generalized lipodystrophy type 2	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.	mondoexuq1wtf	Berardinelli syndrome|congenital lipoatrophic diabetes|congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|lipodystrophy, total, and acromegaloid gigantism|BSCL2-related Brunzell syndrome|Berardinelli-Seip congenital lipodystrophy type 2|Berardinelli Seip congenital lipodystrophy type 2|BSCL2 congenital generalized lipodystrophy (disease)|lipodystrophy, Berardinelli-Seip congenital, type 2|Berardinelli-Seip syndrome|Brunzell syndrome BSCL2-related|Seip syndrome|lipodystrophy, congenital generalized, type 2|Berardinelli-Seip congenital lipodystrophy, type 2|lipoatrophic diabetes, congenital|total lipodystrophy and acromegaloid gigantism|CGL2|Brunzell syndrome, BSCL2-related											DOID:0111136|GARD:0010212|OMIM:269700|ICD10:E88.1														https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2				owl:Class
HGNC:27337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005312	biolink:NamedThing	pouchitis	Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).	mondoexuq1wtf												ICD10:K91.850|Orphanet:217067|MESH:D019449|UMLS:C0376620|ICD9:569.71|EFO:0003921																		owl:Class
UBERON:0002116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009962	biolink:NamedThing	Senior-Loken syndrome 1	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.	mondoexuq1wtf	renal dysplasia and retinal aplasia|Loken-Senior syndrome|Senior-Loken syndrome type 1|Senior-Loken syndrome 1|NPHP1 Senior-Loken syndrome|juvenile nephronophthisis with Leber amaurosis|renal-retinal syndrome|Senior-Loken syndrome|SENIOR-Loken syndrome 1|Senior-Loken syndrome caused by mutation in NPHP1|SLSN1											SCTID:236531005|OMIM:266900|ICD9:759.89																		owl:Class
HGNC:7905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100102	biolink:NamedThing	fetal akinesia deformation sequence 2	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.	mondoexuq1wtf	FADS2							http://orcid.org/0000-0001-5208-3432				OMIM:618388|DOID:0111378																		owl:Class
HGNC:9863	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16876	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009883	biolink:NamedThing	alpha-2-plasmin inhibitor deficiency	Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.	mondoexuq1wtf	plasmin inhibitor deficiency|antiplasmin defiency|anti-plasmin deficiency, congenital|congenital alpha2-antiplasmin deficiency|antiplasmin deficiency, congenital|alpha-2-plasmin inhibitor deficiency|antiplasmin deficiency											MESH:C537777|Orphanet:79|UMLS:C2752081|ICD10:D68.8|GARD:0000731|OMIM:262850|DOID:0060601|SCTID:716746003																		owl:Class
HGNC:9075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010233	biolink:NamedThing	heterotopia, periventricular, X-linked dominant		mondoexuq1wtf	nodular heterotopia bilateral periventricular|nodular heterotopia, bilateral periventricular|periventricular nodular heterotopia 4|periventricular nodular heterotopia 1|PVNH1|heterotopia familial nodular|heterotopia, periventricular, X-linked dominant|heterotopia periventricular X-linked dominant|bilateral periventricular nodular heterotopia|periventricular nodular heterotopia 4, formerly|X-linked periventricular heterotopia|BPNH|heterotopia, periventricular, Ehlers-Danlos variant|NHBP|heterotopia, periventricular nodular, with Frontometaphyseal dysplasia|heterotopia, familial nodular											OMIM:300049|SCTID:448227009|ICD9:742.4|GARD:0007371																		owl:Class
HGNC:3754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021207	biolink:NamedThing	Crohn jejunitis	An Crohn disease involving a pathogenic inflammatory response in the jejunum.	mondoexuq1wtf												SCTID:91390005|UMLS:C0267379																		owl:Class
UBERON:0002115	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014175	biolink:NamedThing	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.	mondoexuq1wtf	mitochondrial DNA depletion syndrome type 12|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR|MTDPS12|MTDPS12B|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)											OMIM:615418|NCIT:C129977|UMLS:C4321247|DOID:0080335																		owl:Class
HP:0030222	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013462	biolink:NamedThing	fucosyltransferase 6 deficiency		mondoexuq1wtf	fucosyltransferase 6 deficiency											OMIM:613852|UMLS:C3151219																		owl:Class
HGNC:4017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005959	biolink:NamedThing	sick building syndrome	A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)	mondoexuq1wtf												MESH:D018877|SCTID:19076009|UMLS:C0037050|DOID:2710|EFO:0007484																		owl:Class
HGNC:2594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007542	biolink:NamedThing	Camurati-Engelmann disease	Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.	mondoexuq1wtf	Engelman's disease|diaphyseal dysplasia 1, progressive|DPD1|CAEND|diaphyseal dysplasia|Engelmann disease|Camurati-Engelmann disease|Camurati-Engelmann syndrome|Camurati-Englemann disease|progressive diaphyseal dysplasia|CED											DOID:4997|UMLS:C0011989|ICD10:Q78.3|GARD:0001072|Orphanet:1328|NCIT:C84610|OMIM:131300|ICD9:756.59|SCTID:318761000119105																		owl:Class
HGNC:11766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042827	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000006786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007007	biolink:NamedThing	Ureaplasma urethritis	Infections with bacteria of the genus ureaplasma.	mondoexuq1wtf	infection, Ureaplasma|Ureaplasma infectious disease|Ureaplasma caused disease or disorder|Ureaplasma disease or disorder|infections, Ureaplasma|Ureaplasma infection											EFO:1001225|SCTID:51105006|MESH:D016869																		owl:Class
NCBITaxon:2129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005804	biolink:NamedThing	hyperprolactinemia	Abnormally high level of prolactin in the blood.	mondoexuq1wtf	prolactin, inappropriate secretion|prolactin hypersecretion syndrome|hyperprolactinemia|secretion prolactin, inappropriate|hypersecretion syndrome, prolactin|inappropriate prolactin secretion syndrome|prolactin secretion, inappropriate|hyperprolactinemia (disease)|hyperprolactinaemia|syndrome, prolactin hypersecretion|inappropriate prolactin secretion|inappropriate secretion prolactin|hyperprolactinemias|secretion, inappropriate prolactin		hyperprolactinemia (disease)									ICD9:253.1|COHD:4030186|EFO:0007319|HP:0000870|UMLS:C0020514|ICD10:E22.1|MESH:D006966|SCTID:237662005																		owl:Class
HP:0000870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014265	biolink:NamedThing	Alzheimer disease 18	Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.	mondoexuq1wtf	Alzheimer disease type 18|AD18|Alzheimer disease 18|ADAM10 Alzheimer disease|Alzheimer's disease 18|Alzheimer disease 18, late-onset|Alzheimer's disease type 18|Alzheimer disease caused by mutation in ADAM10											OMIM:615590|DOID:0110050|UMLS:C3810041																		owl:Class
HGNC:188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045008	biolink:NamedThing	cholesterol metabolism disease	A disease that has its basis in the disruption of cholesterol metabolic process.	mondoexuq1wtf	cholesterol metabolism disease|cholesterol metabolic process disease|disorder of cholesterol metabolic process|disorder of cholesterol metabolism					Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder)						UMLS:C0342877|SCTID:123963007																		owl:Class
GO:0008203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010308	biolink:NamedThing	thrombocytopenia, X-linked, with or without dyserythropoietic anemia	An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.	mondoexuq1wtf	thrombocytopenia, X-linked, with or without dyserythropoietic anemia|X-linked thrombocytopenia, with or without dyserythropoietic Anemia|XLTDA											OMIM:300367|NCIT:C136653|UMLS:C3550789																		owl:Class
HGNC:4170	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16205	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001867	biolink:NamedThing	phaeohyphomycosis	An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.	mondoexuq1wtf	phaehyphomycosis|infection by dematiacious fungi [Phaehyphomycosis]|infection by dematiacious fungi											DOID:14049|ICD9:117.8|COHD:438365|GARD:0012803|SCTID:47158003|MESH:D060446														https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis				owl:Class
NCBITaxon:5498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014987	biolink:NamedThing	Fanconi anemia complementation group U	Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.	mondoexuq1wtf	Fanconi Anemia, complementation group type U|Fanconi Anemia, complementation group U|XRCC2 Fanconi anemia|Fanconi anemia complementation group type U|Fanconi anemia caused by mutation in XRCC2|Fanconi anemia, complementation GROUP U|FANCU											DOID:0111085|OMIM:617247|UMLS:C4310651																		owl:Class
HGNC:12829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012812	biolink:NamedThing	developmental and epileptic encephalopathy, 4	Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.	mondoexuq1wtf	EIEE4|STXBP1-related encephalopathy|epileptic encephalopathy, early infantile, type 4|STXBP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 4|DEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1|early infantile epileptic encephalopathy 4|STXBP1-related early-onset encephalopathy											DOID:0080436|SCTID:768666006|GARD:0012900|Orphanet:599373|UMLS:C2677326|NCIT:C162472|MESH:C567404|OMIM:612164														https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4				owl:Class
HGNC:11444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000738	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001039	biolink:NamedThing	tonsillitis	Inflammation of the tonsillar tissue.	mondoexuq1wtf	chronic tonsillitis|tonsilitis|throat infection - tonsillitis|tonsil inflammation|inflammation of tonsil											NCIT:C116006|ICD9:474.00|UMLS:C0040425|COHD:23220|DOID:10456|MESH:D014069|SCTID:90979004|UMLS:C0149517|ICD10:J35.01																		owl:Class
MONDO:0012745	biolink:NamedThing	dilated cardiomyopathy 1Z	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	mondoexuq1wtf	dilated cardiomyopathy type 1Z|CMD1Z|familial isolated dilated cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, dilated, type 1Z|cardiomyopathy, dilated, 1Z|TNNC1 familial isolated dilated cardiomyopathy											DOID:0110434|OMIM:611879|UMLS:C2678475|ICD10:I42.0|MESH:C567506																		owl:Class
HGNC:11943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014785	biolink:NamedThing	microcephaly, short stature, and impaired glucose metabolism 2	Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.	mondoexuq1wtf	MSSGM2|microcephaly, short stature, and impaired glucose metabolism type 2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|PPP1R15B microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism 2											OMIM:616817|UMLS:C4225195																		owl:Class
HGNC:14951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000833	biolink:NamedThing	bone remodeling disease	A bone disease that results in formation or resorption abnormalities located in bone.	mondoexuq1wtf												DOID:0080005																		owl:Class
GO:0046849	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014004	biolink:NamedThing	basal ganglia calcification, idiopathic, 4		mondoexuq1wtf	basal ganglia calcification, idiopathic, 4|IBGC4|basal ganglia calcification, idiopathic, type 4											UMLS:C3554321|OMIM:615007																		owl:Class
HGNC:25522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012652	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2L	Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	mondoexuq1wtf	ANO5 autosomal recessive limb-girdle muscular dystrophy|LGMD2L|muscular dystrophy, limb-girdle, type 2L|limb-girdle muscular dystrophy type 2L|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5											DOID:0110284|UMLS:C1969785|MESH:C566968|GARD:0012536|Orphanet:206549|ICD10:G71.0|OMIM:611307																		owl:Class
HP:0000962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015002	biolink:NamedThing	developmental and epileptic encephalopathy, 49	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, type 49|epileptic encephalopathy, early infantile, 49; EIEE49|EIEE49|early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49|DEE49|DENND5A early infantile epileptic encephalopathy											DOID:0080441|UMLS:C4310635|OMIM:617281																		owl:Class
HGNC:19344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012326	biolink:NamedThing	autosomal recessive nonsyndromic deafness 42	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|DFNB42|deafness, autosomal recessive 42|ILDR1 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 42|deafness, autosomal recessive type 42|autosomal recessive nonsyndromic deafness type 42											OMIM:609646|ICD10:H90.3|DOID:0110500|MESH:C566460|UMLS:C1864818																		owl:Class
HGNC:28741	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014056	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 9		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, 9|CMM9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, susceptibility to, type 9											OMIM:615134																		owl:Class
GO:0030195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024471	biolink:NamedThing	non-inflammatory vasculopathy		mondoexuq1wtf												Orphanet:496924																		owl:Class
HGNC:8618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11834	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012124	biolink:NamedThing	sudden infant death-dysgenesis of the testes syndrome	Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.	mondoexuq1wtf	sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome|SIDDT											GARD:0012382|MESH:C563856|Orphanet:168593|OMIM:608800|UMLS:C1837371|ICD10:G90.8																		owl:Class
HGNC:12382	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021137	biolink:NamedThing	not rare		mondoexuq1wtf	common																													owl:Class
HGNC:5961	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0031091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8857	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:59	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0025485	biolink:NamedThing	feline acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).	mondoexuq1wtf	FAIDS|AIDS, Feline|Feline AIDS|Feline immunodeficiency virus caused cat disease|Feline immunodeficiency virus cat disease|Feline acquired immuno deficiency syndrome|Feline acquired immuno-deficiency syndrome|Feline acquired immune deficiency syndrome					Editor note: consider separate class for infectious disease						UMLS:C0079335|MESH:D016181																		owl:Class
NCBITaxon:11673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005894	biolink:NamedThing	paracoccidioidomycosis	A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.	mondoexuq1wtf	mucocutaneous-lymphangitic paracoccidioidomycosis|Lutz-Splendore-Almeida disease|South American blastomycosis|paracoccidioidal mycosis|lobo disease|Paracoccidioidal granuloma|PCM											ICD10:B41.0|UMLS:C0030409|Orphanet:73260|MESH:D010229|MedDRA:10061906|GARD:0007323|EFO:0007417|SCTID:36866003|DOID:12662|ICD10:B41.8|ICD10:B41.7|ICD10:B41.9|ICD10:B41|ICD9:116.1|NCIT:C34891														https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis				owl:Class
MONDO:0014223	biolink:NamedThing	amyotrophic lateral sclerosis type 19	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.	mondoexuq1wtf	ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|ALS19|amyotrophic lateral sclerosis type 19|amyotrophic lateral sclerosis 19											UMLS:C3715155|OMIM:615515|DOID:0060210																		owl:Class
HGNC:3432	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010502	biolink:NamedThing	intellectual disability, X-linked 99, syndromic, female-restricted	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	mondoexuq1wtf	USP9X X-linked syndromic intellectual disability|MRXS99F|mental retardation, X-linked 99, syndromic, female-restricted|X-linked syndromic intellectual disability caused by mutation in USP9X|intellectual disability, X-linked 99, syndromic, female-restricted											OMIM:300968																		owl:Class
HGNC:12632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100093	biolink:NamedThing	myoclonus, familial, 1	Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.	mondoexuq1wtf	myoclonus, familial cortical|MYOCL1|FCM							http://orcid.org/0000-0001-5208-3432				OMIM:614937																		owl:Class
HGNC:7869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018852	biolink:NamedThing	achromatopsia	Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.	mondoexuq1wtf	total color blindness|monochromatism|complete or incomplete color blindness|Rod monochromacy|Pingelapese blindness|ACHM|Rod monochromatism					Editor note: we include incomplete forms here, such as BCM						Orphanet:49382|SCTID:102450007|UMLS:C0152200|ICD10:H53.5|MedDRA:10000454|NCIT:C84528|DOID:13911|ICD9:368.54|ICD10:H53.51																		owl:Class
HGNC:9039	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005746	biolink:NamedThing	enterobiasis	An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.	mondoexuq1wtf	Enterobius vermicularis infectious disease|pinworm infection|Enterobius vermicularis infection|Enterobius vermicularis caused disease or disorder|oxyuriasis|Enterobius vermicularis disease or disorder|Oxyuris vermicularis infection|threadworm infection											NCIT:C128396|SCTID:266162007|UMLS:C0086227|EFO:0007254|DOID:7457|ICD10:B80|ICD9:127.4|COHD:197223|UMLS:C0030100																		owl:Class
MONDO:0002708	biolink:NamedThing	retinitis	Inflammation of the retina.	mondoexuq1wtf	inflammation of retina|retina inflammation											UMLS:C0035333|NCIT:C115993|SCTID:399463004|DOID:3612|ICD10:H30.9|MESH:D012173																		owl:Class
UBERON:0000966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002792	biolink:NamedThing	cerebellar vermis medulloblastoma	A medulloblastoma arising from the vermis of the cerebellum.	mondoexuq1wtf	medulloblastoma of cerebellar vermis|cerebellar vermis medulloblastoma|medulloblastoma of the cerebellar vermis|vermis medulloblastoma											NCIT:C5401|DOID:3860|UMLS:C1332903																		owl:Class
UBERON:0004720	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013195	biolink:NamedThing	hypertrophic cardiomyopathy 13	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	mondoexuq1wtf	TNNC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 13|CMH13|hypertrophic cardiomyopathy type 13|cardiomyopathy, familial hypertrophic, 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, familial hypertrophic, type 13											OMIM:613243|UMLS:C2750472|DOID:0110319|MESH:C567686																		owl:Class
MONDO:0014771	biolink:NamedThing	Joubert syndrome 26	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.	mondoexuq1wtf	Joubert syndrome caused by mutation in KIAA0556|JBTS26|KIAA0556 Joubert syndrome|Joubert syndrome 26|Joubert syndrome type 26											OMIM:616784|UMLS:C4084843|DOID:0110995																		owl:Class
HGNC:29068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011489	biolink:NamedThing	hereditary spastic paraplegia 12	Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	mondoexuq1wtf	hereditary spastic paraplegia type 12|SPG12|spastic paraplegia 12|spastic paraplegia 12, autosomal dominant|hereditary spastic paraplegia caused by mutation in RTN2|RTN2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 12|autosomal dominant spastic paraplegia 12											MESH:C537484|OMIM:604805|SCTID:763374004|DOID:0110765|UMLS:C1858106|GARD:0009586|Orphanet:100993|ICD10:G11.4																		owl:Class
HGNC:10468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11117	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004624	biolink:NamedThing	uvula cancer	A malignant neoplasm involving the palatine uvula.	mondoexuq1wtf	malignant uvular tumour|malignant uvula tumor|cancer of palatine uvula|malignant uvula neoplasm|malignant uvula tumour|malignant neoplasm of palatine uvula|malignant tumor of uvula|malignant uvular neoplasm|malignant palatine uvula neoplasm|palatine uvula cancer|malignant uvular tumor											ICD10:C05.2|SCTID:363389001|ICD9:145.4|DOID:8635|UMLS:C0153377|NCIT:C35177																		owl:Class
UBERON:0001734	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:30411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MF_0000061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004670	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700087	biolink:NamedThing	Usher syndrome type 1B	Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene	mondoexuq1wtf												MESH:C536485|OMIM:276900																		owl:Class
HGNC:7606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006176	biolink:NamedThing	cribriform carcinoma	A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.	mondoexuq1wtf	cribriform carcinoma											EFO:1000210|UMLS:C0205643|NCIT:C3680|ICDO:8201/3																		owl:Class
NCIT:C35920	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013312	biolink:NamedThing	retinitis pigmentosa 55	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.	mondoexuq1wtf	retinitis pigmentosa type 55|RP55|retinitis pigmentosa 55|ARL6 retinitis pigmentosa|retinitis pigmentosa caused by mutation in ARL6											DOID:0110370|ICD10:H35.5|OMIM:613575|UMLS:C3150808																		owl:Class
HGNC:13210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010508	biolink:NamedThing	intellectual disability, X-linked 103	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in KLHL15|intellectual disability, X-linked type 103|MRX103|mental retardation, X-linked 103|intellectual disability, X-linked 103|KLHL15 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 103											OMIM:300982|UMLS:C4310818																		owl:Class
HGNC:29347	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001825	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005652	biolink:NamedThing	Arterivirus infectious disease	Infections caused by viruses of the genus arterivirus.	mondoexuq1wtf	Arterivirus disease or disorder|Arterivirus caused disease or disorder											EFO:0007152|UMLS:C0206604|MESH:D018174																		owl:Class
NCBITaxon:11046	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007829	biolink:NamedThing	cholestasis, intrahepatic, of pregnancy, 1		mondoexuq1wtf	ICP1|cholestasis, intrahepatic, of pregnancy, type 1|cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, 1											UMLS:C3549845|DOID:0070228|OMIM:147480																		owl:Class
HGNC:3097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0015410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006885	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003159	biolink:NamedThing	vascular hemostatic disease	Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.	mondoexuq1wtf	hemostatic disorders, vascular|hemostatic disorder, vascular|vascular hemostatic disorders|vascular hemostatic disorder|disorders, vascular hemostatic|disorder, vascular hemostatic|hemostatic disorder											UMLS:C0600502|MESH:D020141|SCTID:21112004|DOID:484																		owl:Class
UBERON:0035965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005719	biolink:NamedThing	Coronavinae infectious disease	Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).	mondoexuq1wtf												EFO:0007224|MESH:D018352																		owl:Class
NCBITaxon:693995	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010297	biolink:NamedThing	FG syndrome 2	Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.	mondoexuq1wtf	FG syndrome type 2|FGS2|FLNA FG syndrome|FG syndrome 2|FG syndrome caused by mutation in FLNA											UMLS:C1845902|OMIM:300321|GARD:0009923														https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2				owl:Class
UBERON:0000916	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012908	biolink:NamedThing	complement component 6 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.	mondoexuq1wtf	complement component 6 deficiency, subtotal|C6D|complement component 6 deficiency|C6 classic complement early component deficiency|C6 deficiency, subtotal|classic complement early component deficiency caused by mutation in C6|C6 deficiency											UMLS:C2676232|OMIM:612446|DOID:0060299|ICD10:D84.1																		owl:Class
HGNC:1339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005381	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013949	biolink:NamedThing	peroxisome biogenesis disorder 11A (Zellweger)		mondoexuq1wtf	PBD11A|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group H|peroxisome biogenesis disorder, complementation group 13											OMIM:614883|DOID:0080485|UMLS:C3554000														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:10938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014650	biolink:NamedThing	familial temporal lobe epilepsy 8	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.	mondoexuq1wtf	ETL8|epilepsy, familial temporal lobe, type 8|familial temporal lobe epilepsy type 8|epilepsy, familial temporal lobe, 8											UMLS:C4225318|DOID:0060754|OMIM:616461																		owl:Class
HGNC:4114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019221	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:65647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:469	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1744	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007157	biolink:NamedThing	arthrogryposis, distal, type 1A		mondoexuq1wtf	arthrogryposis, distal, type 1|DA1A|arthrogryposis multiplex congenita, distal, type 1|arthrogryposis multiplex congenita|arthrogryposis, distal, type 1A|AMC											OMIM:108120|DOID:0111597																		owl:Class
HGNC:12011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003341	biolink:NamedThing	subungual glomus tumor	A glomus tumor arising in the finger and usually associated with pain.	mondoexuq1wtf	subungual glomus tumor											DOID:5236|UMLS:C1304510|ICD9:228.09|SCTID:403973004|NCIT:C36079																		owl:Class
UBERON:0004105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001158	biolink:NamedThing	obsessive-compulsive personality disorder	A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.	mondoexuq1wtf	anankastic personality disorder|OCPD|obsessional personality|OCD											ICD9:301.4|MESH:D003193|COHD:443876|SCTID:1376001|DOID:10932|NCIT:C92638|ICD10:F60.5																		owl:Class
OBO:MFOMD_0000109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013839	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 6	Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.	mondoexuq1wtf	neuropathy, hereditary sensory and autonomic, type 6|DST hereditary sensory and autonomic neuropathy|HSAN 6|hereditary sensory and autonomic neuropathy type VI|neuropathy, hereditary sensory and autonomic, type VI|HSAN6|hereditary sensory and autonomic neuropathy caused by mutation in DST|familial dysautonomia with contractures											OMIM:614653|UMLS:C3539003|Orphanet:314381|ICD10:G60.8|DOID:0070151																		owl:Class
HGNC:1090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005952	biolink:NamedThing	scarlet fever	A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.	mondoexuq1wtf	scarlatina											MESH:D012541|SCTID:30242009|ICD9:034.1|COHD:141213|ICD10:A38|NCIT:C94575|ICD9:034|UMLS:C0036285|DOID:8596|ICD10:A38.9|EFO:0007477																		owl:Class
NCBITaxon:1314	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011449	biolink:NamedThing	Salla disease	Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.	mondoexuq1wtf	Salla disease|sialic acid storage disease|sialuria, Finnish type|SD											Orphanet:309334|UMLS:C1096903|GARD:0004754|OMIM:604369|MedDRA:10067531|ICD10:E77.8|SCTID:87074006|NCIT:C85067														https://rarediseases.info.nih.gov/diseases/4754/salla-disease				owl:Class
GO:0015136	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005187	biolink:NamedThing	human herpesvirus 8 infection	An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.	mondoexuq1wtf	Human Herpes Virus 8 infection|Human Herpesvirus 8 infection|HHV8 infection											UMLS:C1512508|NCIT:C39291|EFO:0002612																		owl:Class
MONDO:0017330	biolink:NamedThing	malignancy diagnosed during pregnancy		mondoexuq1wtf	cancer diagnosed during pregnancy											Orphanet:289385|UMLS:CN227116																		owl:Class
MONDO:0009747	biolink:NamedThing	Navajo neurohepatopathy		mondoexuq1wtf	mitochondrial DNA depletion syndrome 6|Navajo neuropathy|NN|mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo familial neurogenic arthropathy|Navajo neurohepatopathy|MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|MTDPS6											Orphanet:255229|MESH:C538344|GARD:0003972|OMIM:256810|DOID:0080125																		owl:Class
HGNC:7224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007982	biolink:NamedThing	metaphyseal chondrodysplasia, Jansen type	Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.	mondoexuq1wtf	metaphyseal chondrodysplasia, murk Jansen type|Jansen metaphyseal dysostosis|Jansen disease|Jansen type metaphyseal chondrodysplasia|murk Jansen type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, Jansen type|Jansen's metaphyseal chondrodysplasia|Jansen metaphyseal chondrodysplasia|metaphyseal chondrodysplasia murk Jansen type										MONDO:0000842	DOID:0080020|OMIM:156400|SCTID:24629003|GARD:0000079|Orphanet:33067|NCIT:C131868|UMLS:C0265295|ICD10:Q78.5|MESH:C537564																		owl:Class
HP:0100255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001390	biolink:NamedThing	transient refractive change		mondoexuq1wtf												SCTID:81519008|UMLS:C0155000|DOID:11850|COHD:380727|ICD9:367.81																		owl:Class
MONDO:0013334	biolink:NamedThing	cocoon syndrome	Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.	mondoexuq1wtf	fetal encasement syndrome|cocoon syndrome											OMIM:613630|DOID:0060647|UMLS:C3150891|Orphanet:465824																		owl:Class
MONDO:0013571	biolink:NamedThing	acatalasia	A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.	mondoexuq1wtf	deficiency of catalase|catalase deficiency|acatalasia|acatalasemia											NCIT:C84526|GARD:0000363|DOID:2582|ICD9:277.6|HGNC:1516|MESH:D020642|Orphanet:926|ICD10:E80.3|OMIM:614097|SCTID:124202004|EFO:0004144|UMLS:C0268419														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:1516	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010461	biolink:NamedThing	syndromic X-linked intellectual disability Nascimento type	X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	mondoexuq1wtf	intellectual disability, X-linked, syndromic, Nascimento type|X-linked intellectual disability, Nascimento type|mental retardation, X-linked, syndromic 30|mental retardation, X-linked syndromic, Nascimento-type|intellectual disability, X-linked, syndromic 30|X-linked intellectual disability-nail dystrophy-seizures syndrome|intellectual disability, X-linked syndromic, Nascimento-type|mental retardation, X-linked, syndromic, Nascimento type|MRXSN											DOID:0060820|UMLS:C3275464|OMIM:300860|Orphanet:163956|ICD10:Q87.8																		owl:Class
HGNC:12472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009520	biolink:NamedThing	3-hydroxy-3-methylglutaric aciduria	3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.	mondoexuq1wtf	Hydroxymethylglutaric aciduria|defect in leucine metabolism|HMGCLD|Hmgcl deficiency|HMG-Coa lyase deficiency|3-OH 3-Methyl glutaric aciduria|deficiency of hydroxymethylglutaryl-CoA lyase|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|HL deficiency|HMG CoA lyase deficiency|hydroxymethylglutaryl-CoA lyase deficiency|HMG-CoA lyase deficiency											ICD10:E71.1|UMLS:C1533587|Orphanet:20|NCIT:C84523|OMIM:246450|UMLS:C0268601|GARD:0008387|MESH:C538324|SCTID:410059004																		owl:Class
HGNC:5005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010307	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015645	biolink:NamedThing	eating seizures		mondoexuq1wtf	eating reflex epilepsy|eating epilepsy											Orphanet:166418|ICD10:G40.8|UMLS:C0393725|SCTID:230450001																		owl:Class
GO:0042755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0061626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001062	biolink:NamedThing	pyloric antrum cancer	A malignant neoplasm involving the pyloric antrum.	mondoexuq1wtf	pyloric antrum cancer|malignant neoplasm of pyloric antrum|malignant neoplasm of antrum of stomach|malignant pyloric antrum neoplasm|malignant tumor of pyloric antrum|cancer of pyloric antrum											UMLS:C0153419|ICD10:C16.3|SCTID:187740000|DOID:10547|ICD9:151.2																		owl:Class
UBERON:0001165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015019	biolink:NamedThing	susceptibility to Yao syndrome		mondoexuq1wtf	Yao syndrome|YAOS											UMLS:C4310620|SCTID:768667002|OMIM:617321																		owl:Class
HGNC:5331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007762	biolink:NamedThing	hyperlipoproteinemia type V	A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.	mondoexuq1wtf	type V hyperlipoproteinemia|hyperlipemia, combined fat and carbohydrate-induced|hyperlipidemia type V|hyperlipoproteinemia, type V|familial type 5 hyperlipoproteinemia|hyperchylomicronemia, late-onset|HLP type 5|mixed hyperlipemia|Fredrickson type V lipaemia|hyperlipemia, mixed|hyperlipidemia, type 5|familial hyperlipoproteinemia type V|hyperlipoproteinemia type 5|hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|major hyperlipidemia|hyperchylomicronemia late onset|hyperlipemia mixed|hyperlipoproteinemia, type 5|hyperlipemia combined fat and carbohydrate-induced											DOID:1171|ICD10:E78.3|MedDRA:10060755|MESH:D006954|SCTID:34349009|Orphanet:70470|OMIM:144650|GARD:0006704														https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5				owl:Class
HGNC:17288	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013925	biolink:NamedThing	methylmalonic acidemia with homocystinuria, type cblJ		mondoexuq1wtf	MAHCJ|methylmalonic acidemia with homocystinuria type cblJ|cblJ defects|methylmalonic aciduria with homocystinuria, type cblJ|cobalamin J defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ|methylmalonic aciduria and homocystinuria, cblJ type											Orphanet:369955|OMIM:614857|GARD:0012621|UMLS:C3553915|ICD10:E71.1														https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj				owl:Class
HGNC:68	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009605	biolink:NamedThing	methemoglobinemia type 4	Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.	mondoexuq1wtf	isolated 17,20-lyase deficiency, Pure|CYB5A methemoglobinemia|methemoglobinemia caused by mutation in CYB5A|methemoglobinemia type IV|methemoglobinemia type IV, formerly|METAG|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia and ambiguous genitalia|methemoglobinemia due to deficiency of cytochrome B5, formerly											UMLS:C2673427|OMIM:250790|MESH:C567102																		owl:Class
HGNC:2570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008582	biolink:NamedThing	tooth and nail syndrome	Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.	mondoexuq1wtf	tooth-and-nail syndrome|HND|nail dysplasia with hypodontia|tooth and nail syndrome|WITKOP syndrome|hypoplastic enamel-onycholysis-hypohidrosis syndrome|ectodermal dysplasia 3, Tooth/nail type|hypodontia - dysplasia of nails|TNS|ectodermal dysplasia 3, Witkop type|Witkop syndrome|hypodontia and nail dysplasia|hypodontia-dysplasia of nails syndrome|dysplasia of nails with hypodontia|hypodontia-nail dysgenesis syndrome|Witkop's syndrome|hypodontia with nail dysplasia|hypodontia-nail dysplasia											SCTID:400036004|NCIT:C40553|ICD10:Q82.4|Orphanet:2228|UMLS:C0406735|MESH:C536736|OMIM:189500|GARD:0005587|DOID:6678																		owl:Class
HGNC:7391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015874	biolink:NamedThing	benign ductal tumor of breast		mondoexuq1wtf												ICD10:D24|UMLS:CN200479|Orphanet:180284																		owl:Class
MONDO:0014320	biolink:NamedThing	optic atrophy-intellectual disability syndrome	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	mondoexuq1wtf	BOSCH-Boonstra-Schaaf optic atrophy syndrome|BBSOAS											OMIM:615722|Orphanet:401777|UMLS:C3810363|ICD10:H47.2																		owl:Class
HGNC:7975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009558	biolink:NamedThing	Treacher Collins syndrome 3	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.	mondoexuq1wtf	Treacher Collins syndrome type 3|Treacher-Collins syndrome caused by mutation in POLR1C|Treacher Collins syndrome 3|POLR1C Treacher-Collins syndrome|TREACHER COLLINS syndrome 3|TCS3|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive											GARD:0009125|MESH:C535707|OMIM:248390														https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3				owl:Class
HGNC:20194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024492	biolink:NamedThing	tumor grade 2, general grading system	A morphologic qualifier indicating that a cancerous lesion is moderately differentiated.	mondoexuq1wtf	intermediate grade|grade 2|moderately differentiated|grade II|G2											NCIT:C28078|EFO:0005746																		owl:Class
MONDO:0021402	biolink:NamedThing	polyp of external auditory canal	A polyp that involves the external acoustic meatus.	mondoexuq1wtf	external acoustic meatus polyp|external auditory canal polyp|polyp of the external auditory canal|external Ear polyp											UMLS:C0339765|NCIT:C4366|SCTID:95211004																		owl:Class
UBERON:0001352	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013581	biolink:NamedThing	intellectual disability, autosomal dominant 2	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.	mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 2|mental retardation, autosomal dominant 2|intellectual disability, autosomal dominant type 2|MRD2|DOCK8 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 2|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|intellectual disability, autosomal dominant 2|mental retardation, autosomal dominant type 2|autosomal dominant mental retardation 2											DOID:0070032|OMIM:614113|UMLS:C3279842																		owl:Class
HGNC:19191	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0032991	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010600	biolink:NamedThing	granulomatous disease, chronic, X-linked		mondoexuq1wtf	CDGX|chronic granulomatous disease, atypical|granulomatous disease, chronic, X-linked, variant|chronic granulomatous disease, X-linked|cytochrome B-negative granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked|CGD|cytochrome B-positive granulomatous disease, chronic, X-linked											OMIM:306400|DOID:0070195																		owl:Class
HGNC:2578	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012953	biolink:NamedThing	colorectal cancer, susceptibility to, 10	Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.	mondoexuq1wtf	colorectal cancer, susceptibility to, type 10|CRCS10|colorectal cancer, susceptibility to, on chromosome 19Q|POLD1 colorectal cancer|susceptibility to colorectal cancer 10|colorectal cancer, susceptibility to, 10|colorectal cancer caused by mutation in POLD1											OMIM:612591																		owl:Class
HGNC:9175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009084	biolink:NamedThing	conductive deafness-ptosis-skeletal anomalies syndrome	Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	mondoexuq1wtf	deafness conductive ptosis skeletal anomalies|Jackson Barr syndrome|Jackson-Barr syndrome|deafness, conductive, with ptosis and skeletal anomalies											MESH:C535993|SCTID:763213001|UMLS:C1857340|Orphanet:3236|GARD:0000305|OMIM:221320																		owl:Class
HP:0000405	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15761	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0033844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017572	biolink:NamedThing	tick-borne encephalitis	Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.	mondoexuq1wtf	Russian spring-summer encephalitis|west-Siberian encephalitis|taiga encephalitis|Far Eastern TBE|Tick-borne viral encephalitis|central European encephalitis|Western European tick-borne encephalitis|TBE|Siberian tick-borne encephalitis											ICD10:A84.0|NCIT:C34579|ICD9:063.2|EFO:1001309|DOID:0050175|UMLS:C0014061|MESH:D004675|ICD10:A84.8|MedDRA:10043848|ICD10:A84.9|ICD10:A84.1|GARD:0005216|Orphanet:297														https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis				owl:Class
MONDO:0021420	biolink:NamedThing	polyp of vocal cord	A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.	mondoexuq1wtf	vocal cord polyp|laryngeal vocal fold polyp|polyp of the vocal cord											UMLS:C0042929|NCIT:C3440|SCTID:9078005																		owl:Class
UBERON:0003706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014222	biolink:NamedThing	immunodeficiency 14		mondoexuq1wtf	immunodeficiency type 14|IMD14|immunodeficiency 14|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|Activated PI3K-Delta syndrome											OMIM:615513																		owl:Class
HGNC:8977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020541	biolink:NamedThing	maligant granulosa cell tumor of ovary	An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.	mondoexuq1wtf	adult granulosa cell tumor of the ovary|Maligant granulosa cell tumor of the ovary|granulosa cell cancer|malignant ovarian granulosa cell tumor|malignant granulosa cell neoplasm of ovary|granulosa theca cell tumor|granulosa cell malignant tumor|ovarian granulosa cell tumor of adults|granulosa theca cell tumor of the ovary|malignant granulosa cell tumor of ovary|GTCT|malignant granulosa cell neoplasm of the ovary|GCT of the ovary|malignant granulosa cell tumor of the ovary|adult ovarian granulosa cell tumor|cancer of granulosa cell|malignant ovarian granulosa cell neoplasm|malignant granulosa cell neoplasm											GARD:0008642|NCIT:C8403|SCTID:254861002|ICD10:C56|Orphanet:99915|UMLS:C0346175|UMLS:CN207442														https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary				owl:Class
MONDO:0000550	biolink:NamedThing	extra-adrenal sympathetic paraganglioma	A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.	mondoexuq1wtf	extra-adrenal chromaffin neoplasm|extra-adrenal sympathetic paraganglioma|extra-adrenal Chromaffinoma|extraadrenal pheochromocytoma|extra-adrenal sympathetic Paraganglionic neoplasm|extra-adrenal pheochromocytoma					Editor note: DO classifies as cancer but we treat as neutral						NCIT:C48576|UMLS:C1257877|DOID:0050936|EFO:0000489																		owl:Class
GO:0050432	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004645	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018672	biolink:NamedThing	IgG4-related aortitis		mondoexuq1wtf	IgG4-related periaortitis											Orphanet:449400|ICD10:I77.6																		owl:Class
HGNC:4879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030004	biolink:NamedThing	autism, susceptibility to, 20		mondoexuq1wtf	AUTISM, SUSCEPTIBILITY TO, 20|AUTS20|autism, susceptibility to, 20											OMIM:618830																		owl:Class
HGNC:14291	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007171	biolink:NamedThing	atrial standstill 1	Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.	mondoexuq1wtf	atrial standstill 1|atrial standstill type 1|ATRST1|cardiomyopathy, familial, with conduction disturbance|atrial cardiomyopathy with heart block|atrial standstill caused by mutation in GJA5|GJA5 atrial standstill											OMIM:108770																		owl:Class
HGNC:4279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005236	biolink:NamedThing	xanthoma	A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.	mondoexuq1wtf	xanthoma (disease)|xanthoma		xanthoma (disease)									EFO:0003075|NCIT:C4071|HP:0001114																		owl:Class
MONDO:0000494	biolink:NamedThing	renal fibrosis	A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.	mondoexuq1wtf												UMLS:C0151650|SCTID:197660000|DOID:0050855|EFO:1001517																		owl:Class
UBERON:0002336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009655	biolink:NamedThing	Sanfilippo syndrome type A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.	mondoexuq1wtf	mucopolysaccharidosis type IIIA|Sanfilippo A|heparan sulfamidase deficiency|mucopoly-saccharidosis type 3A|MPS III A|heparane sulfamidase deficiency|mucopolysaccharidosis type 3A|Sanfilippo syndrome a|MPS 3A|mucopolysaccharidosis, type IIIA|MPSIIIA|mucopolysaccharidosis, type 3A|sulfamidase deficiency|MPS IIIA|MPS3A|heparan sulfate sulfatase deficiency											SCTID:41572006|OMIM:252900|GARD:0002649|GARD:0007071|Orphanet:79269|UMLS:C0086647|ICD10:E76.2|NCIT:C84897|DOID:0111395																		owl:Class
GO:0004561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009215	biolink:NamedThing	Fanconi anemia complementation group A	Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.	mondoexuq1wtf	Estren-Dameshek variant of Fanconi Anemia|Fanconi Anemia|Fanconi anemia caused by mutation in FANCA|Fanconi anemia complementation group type A|FANCA Fanconi anemia|Fanconi Anemia, complementation group type a|FANCA|Estren-Dameshek variant of Fanconi pancytopenia|Fanconi Anemia, Estren-Dameshek variant|Fanconi anemia, complementation group A											EFO:0009044|OMIM:227650|NCIT:C125702|GTR:AN1051558|DOID:0111095|UMLS:CN653908																		owl:Class
HGNC:3582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014205	biolink:NamedThing	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome		mondoexuq1wtf	BAINBRIDGE-ROPERS syndrome|BRPS|Bainbridge-Roppers syndrome											UMLS:C3809650|Orphanet:352577|OMIM:615485|ICD10:Q87.0																		owl:Class
HGNC:29357	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016126	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003227	biolink:NamedThing	prosopagnosia	Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.	mondoexuq1wtf	prosopagnosia|prosopagnosia (disease)|face blindness		prosopagnosia (disease)									NCIT:C85031|ICD10:R48.3|HP:0010528|DOID:4970																		owl:Class
HP:0010528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021736	biolink:NamedThing	proctosigmoiditis	Inflammation of the sigmoid colon and rectum.	mondoexuq1wtf	Rectosigmoiditis|Proctosigmoiditis|proctosigmoiditis|rectosigmoiditis											UMLS:C0033252|SCTID:41364008|NCIT:C34950|ICD9:569.89																		owl:Class
UBERON:0001159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014095	biolink:NamedThing	dilated cardiomyopathy 1JJ	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.	mondoexuq1wtf	cardiomyopathy, dilated, type 1Jj|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|dilated cardiomyopathy type 1JJ|CMD1JJ|LAMA4 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1JJ											OMIM:615235|DOID:0110438|ICD10:I42.0|UMLS:C3808935																		owl:Class
HGNC:6484	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032619	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 14		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14|MC1DN14											OMIM:618236																		owl:Class
HGNC:20371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013985	biolink:NamedThing	autosomal recessive nonsyndromic deafness 18B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.	mondoexuq1wtf	OTOG autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 18B|autosomal recessive nonsyndromic deafness type 18B|deafness, autosomal recessive type 18B|autosomal recessive deafness 18B|DFNB18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG											OMIM:614945|ICD10:H90.3|DOID:0110474|UMLS:C3554163																		owl:Class
HGNC:8516	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:48	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003413	biolink:NamedThing	hair follicle neoplasm	A benign or malignant neoplasm arising from the hair follicle.	mondoexuq1wtf	hair matrix tumor|hair matrix tumour|hair follicle neoplasm|hair follicle tumor|neoplasm of hair follicle|neoplasm of the hair follicle|tumor of hair follicle|hair follicle neoplasm (disease)|hair matrix neoplasm											UMLS:C0859920|DOID:5375|NCIT:C7367																		owl:Class
MONDO:0017357	biolink:NamedThing	transient hyperammonemia of the newborn		mondoexuq1wtf												Orphanet:289877|UMLS:CN203020|ICD10:P74.8																		owl:Class
MONDO:0013869	biolink:NamedThing	adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.	mondoexuq1wtf	urolithiasis, 2,8-dihydroxyadenine|2,8-dihydroxyadeninuria disease|APRT deficiency|adenine phosphoribosyltransferase deficiency|nephrolithiasis, Dha|2,8-dihydroxyadenine urolithiasis|urolithiasis, Dha|APRTD|Dihydroxyadeninuria											GARD:0000546|NCIT:C121564|MESH:C538228|ICD10:E79.8|Orphanet:976|OMIM:614723|UMLS:C0268120|GARD:0010666|SCTID:124274002|DOID:0060350														https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria				owl:Class
HGNC:626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008111	biolink:NamedThing	oculodentodigital dysplasia	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.	mondoexuq1wtf	odd syndrome|ODDD|oculodentodigital syndrome|oculo-dento-digital dysplasia|oculodentoosseous dysplasia|ODDD syndrome|oculo-dento-digital syndrome|oculodentodigital dysplasia|Meyer-Schwickerath syndrome											ICD9:759.89|MESH:C563160|SCTID:38215007|DOID:0060291|GARD:0007239|MedDRA:10063691|Orphanet:2710|OMIM:164200|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia				owl:Class
MONDO:0013398	biolink:NamedThing	acne inversa, familial, 3	Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.	mondoexuq1wtf	ACNINV3|familial acne inversa caused by mutation in PSEN1|acne inversa, familial, type 3|acne inversa, familial, 3|PSEN1 familial acne inversa											UMLS:C3151038|OMIM:613737																		owl:Class
MONDO:0100074	biolink:NamedThing	norovirus infectious disease	Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
NCBITaxon:142786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017587	biolink:NamedThing	onychomatricoma	A neoplasm involving a UBERON:0002283.	mondoexuq1wtf	tumor of nail matrix|neoplasm of nail matrix|nail matrix tumor|nail matrix neoplasm											UMLS:CN203393|Orphanet:300512																		owl:Class
UBERON:0002283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014216	biolink:NamedThing	primary ciliary dyskinesia 28	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.	mondoexuq1wtf	primary ciliary dyskinesia type 28|CILD28|ciliary dyskinesia, primary, type 28|primary ciliary dyskinesia caused by mutation in SPAG1|primary ciliary dyskinesia 28 with or without situs inversus|ciliary dyskinesia, primary, 28|ciliary dyskinesia, primary, 28, with or without situs inversus|SPAG1 primary ciliary dyskinesia											ICD10:Q34.8|DOID:0110607|UMLS:C3809706|OMIM:615505																		owl:Class
HGNC:11212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001691	biolink:NamedThing	laryngeal cartilage cancer	A malignant neoplasm involving the laryngeal cartilage.	mondoexuq1wtf	malignant laryngeal cartilage neoplasm|malignant tumor of laryngeal cartilage|cancer of laryngeal cartilage|malignant neoplasm of laryngeal cartilage|malignant neoplasm of laryngeal cartilages|laryngeal cartilage cancer											ICD10:C32.3|ICD9:161.3|UMLS:C0153486|SCTID:363431006|DOID:13348																		owl:Class
UBERON:0001739	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043314	biolink:NamedThing	aquarium granuloma	A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.	mondoexuq1wtf	swimming pool granuloma|Mycobacterium marinum infection|M. marinum|Mycobacterium marinum caused skin disease|Mycobacterium marinum skin disease|fish tank granuloma|aquarium granuloma											MESH:C535526|UMLS:C0275708|GARD:0009712|SCTID:240417004																		owl:Class
NCBITaxon:1781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014274	biolink:NamedThing	L-ferritin deficiency		mondoexuq1wtf	LFTD|L-ferritin deficiency											OMIM:615604|Orphanet:440731|UMLS:C3810090																		owl:Class
HGNC:3999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045035	biolink:NamedThing	opportunistic infectious	A characteristic of an infectious disease in which the disease affects an immunologically compromised host.	mondoexuq1wtf																														owl:Class
MONDO:0002806	biolink:NamedThing	bronchogenic carcinoma	A lung carcinoma arising from the bronchial epithelium.	mondoexuq1wtf	bronchogenic lung cancer|bronchiogenic carcinoma|bronchogenic lung carcinoma|carcinoma of bronchus|bronchogenic carcinoma|bronchial carcinoma|BC - bronchogenic carcinoma|carcinoma, bronchial, malignant|bronchus carcinoma											ICD9:162.9|DOID:3904|MESH:D002283|SCTID:254622008|NCIT:C35875|EFO:1001942|CSP:2017-6052|UMLS:C0007121																		owl:Class
CL:0002328	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001517	biolink:NamedThing	dysentery	Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.	mondoexuq1wtf	dysenteric diarrhea|infectious diarrheal diseases|infectious diarrhea|diarrheal disease, infectious|infectious diarrheal disease											COHD:198337|UMLS:C0013369|MESH:D004403|DOID:12384|ICD9:009.2|EFO:1001869|SCTID:111939009																		owl:Class
MONDO:0017775	biolink:NamedThing	melioidosis	An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.	mondoexuq1wtf	Burkholderia pseudomallei caused disease or disorder|Burkholderia pseudomallei infection|acute and fulminating melioidosis|B pseudomallei infection|Burkholderia pseudomallei disease or disorder|Nightcliff gardener's disease|Whitmore disease|subacute and chronic melioidosis|pseudoglanders|Burkholderia pseudomallei infectious disease|Whitmore's disease											GARD:0009546|ICD10:A24.4|Orphanet:31202|UMLS:C0348971|UMLS:C0348970|MedDRA:10069748|ICD10:A24.9|NCIT:C128336|DOID:5052|UMLS:C0025229|ICD10:A24.1|ICD9:025|ICD10:A24.3|ICD10:A24.2|SCTID:186312003|MESH:D008554														https://rarediseases.info.nih.gov/diseases/9546/melioidosis				owl:Class
NCBITaxon:28450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013058	biolink:NamedThing	cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	mondoexuq1wtf	RNAse T2-deficient leukoencephalopathy|CLWM|leukoencephalopathy, cystic, without megalencephaly											MESH:C567845|GARD:0013199|UMLS:C2751843|OMIM:612951|ICD10:E75.2|Orphanet:85136|SCTID:720825005																		owl:Class
HGNC:21686	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:779	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011807	biolink:NamedThing	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1		mondoexuq1wtf	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|systemic lupus erythematosus, hemolytic Anemia-related|SLEH1											OMIM:607279																		owl:Class
HGNC:29796	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21158	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020734	biolink:NamedThing	erythrocyte AMP deaminase deficiency		mondoexuq1wtf	erythrocyte AMP deaminase deficiency											UMLS:C2752073|OMIM:612874																		owl:Class
HGNC:470	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012362	biolink:NamedThing	dilated cardiomyopathy 1P	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	mondoexuq1wtf	dilated cardiomyopathy type 1P|cardiomyopathy, dilated, type 1P|cardiomyopathy, dilated, 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|PLN familial isolated dilated cardiomyopathy|CMD1P											DOID:0110439|MESH:C563690|OMIM:609909|ICD10:I42.0|UMLS:C1835928																		owl:Class
HGNC:9080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15917	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004934	biolink:NamedThing	periostitis	Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)	mondoexuq1wtf	periosteum|periostitis|periosteum inflammation|periostitis (disease)|inflammation of periosteum		periostitis (disease)									UMLS:C0031111|DOID:9957|MESH:D010522|SCTID:41910004|HP:0040165|NCIT:C13184																		owl:Class
UBERON:0002515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0025512	biolink:NamedThing	type II hypersensitivity reaction disease	A disease that has its basis in the disruption of type II hypersensitivity.	mondoexuq1wtf	disorder of type II hypersensitivity|type II hypersensitivity disease					Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22)						EFO:0005809																		owl:Class
GO:0002445	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012848	biolink:NamedThing	Meckel syndrome, type 6	Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	mondoexuq1wtf	MKS6|Meckel syndrome 6|Meckel-Gruber syndrome, type 6|Meckel syndrome, type 6|Meckel syndrome caused by mutation in CC2D2A|CC2D2A Meckel syndrome											UMLS:C2676790|MESH:C567365|DOID:0070120|ICD10:Q61.9|OMIM:612284																		owl:Class
HGNC:29253	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10596	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014429	biolink:NamedThing	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	immunodeficiency type 27B|IFNGR1 deficiency, autosomal dominant|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|immunodeficiency 27B|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|IMD27B											OMIM:615978|UMLS:C4014863|Orphanet:319581|ICD10:D84.8																		owl:Class
HGNC:5439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012988	biolink:NamedThing	hypogonadotropic hypogonadism 6 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism caused by mutation in FGF8|hypogonadotropic hypogonadism 6 with or without anosmia|Kallmann syndrome 6|FGF8 hypogonadotropic hypogonadism|HH6|KAL6											OMIM:612702|GARD:0010774|ICD10:E23.0|UMLS:C3552574|DOID:0090086|MESH:C567199														https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6				owl:Class
HGNC:3686	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014203	biolink:NamedThing	primary ciliary dyskinesia 25	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.	mondoexuq1wtf	primary ciliary dyskinesia 25 with or without situs inversus|CILD25|ciliary dyskinesia, primary, 25|ciliary dyskinesia, primary, type 25|ciliary dyskinesia, primary, 25, with or without situs inversus|DNAAF4 primary ciliary dyskinesia|primary ciliary dyskinesia type 25|primary ciliary dyskinesia caused by mutation in DNAAF4											DOID:0110615|OMIM:615482|ICD10:Q34.8|UMLS:C3809641																		owl:Class
HP:0012735	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008798	biolink:NamedThing	nonsyndromic congenital nail disorder 4	Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.	mondoexuq1wtf	HYPONYCHIA congenita|NDNC4|anonychia totalis|nail disorder, nonsyndromic congenital, 4|RSPO4 isolated congenital anonychia|anonychia congenita|nonsyndromic congenital nail disorder type 4|anonychia/hyponychia congenita|isolated congenital anonychia caused by mutation in RSPO4|anonychia congenita totalis|nail disorder, nonsyndromic congenital, type 4											MESH:C536377|Orphanet:94150|OMIM:206800|ICD10:Q84.3|DOID:0080082|DOID:0050643																		owl:Class
HGNC:16175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011479	biolink:NamedThing	postural orthostatic tachycardia syndrome	A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.	mondoexuq1wtf	postural tachycardia syndrome due to NET deficiency|Soldiers heart|familial orthostatic tachycardia due to norepinephrine transporter deficiency|soldiers heart|irritable heart|orhtostatic intolerance|orthostatic intolerance|orthostatic intolerance due to NET deficiency|neurocirculatory asthenia											OMIM:604715|SCTID:8074002|EFO:1000645|Orphanet:443236|DOID:0111154|ICD10:I95.1																		owl:Class
HGNC:11048	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011503	biolink:NamedThing	cortisone reductase deficiency 1	Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.	mondoexuq1wtf	cortisone reductase deficiency caused by mutation in H6PD|CORTRD1|apparent cortisone reductase deficiency|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency type 1|cortisone reductase deficiency 1|H6PD cortisone reductase deficiency											UMLS:C3551716|NCIT:C131849|OMIM:604931|DOID:0090141																		owl:Class
HGNC:4795	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008207	biolink:NamedThing	chondromalacia patellae	Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.	mondoexuq1wtf	chondromalacia of patella|softening of articular cartilage of patella|patella chondromalacia|chondromalacia patellae|familial chondromalacia patellae|patella, chondromalacia OF											ICD9:717.7|DOID:13357|ICD10:M22.4|COHD:81378|Orphanet:1428|SCTID:36071006|OMIM:168900|MESH:D046789|UMLS:C0008475																		owl:Class
UBERON:0002446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019543	biolink:NamedThing	acquired aneurysmal subarachnoid hemorrhage	Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.	mondoexuq1wtf												ICD10:I60.9|Orphanet:90065|UMLS:CN206370																		owl:Class
UBERON:0005409	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1759	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016141	biolink:NamedThing	qualitative or quantitative defects of alpha-sarcoglycan		mondoexuq1wtf	alpha-sarcoglycanopathy											Orphanet:207060																		owl:Class
PR:000014781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001485	biolink:NamedThing	atypical depressive disorder	A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.	mondoexuq1wtf	atypical depression											ICD9:296.82|COHD:438727|ICD10:F32.8|DOID:12294|SCTID:191659001																		owl:Class
MONDO:0005184	biolink:NamedThing	pancreatic ductal adenocarcinoma	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.	mondoexuq1wtf	pancreatic duct adenocarcinoma|ductal adenocarcinoma of the pancreas|pancreatic ductal carcinoma|ductal adenocarcinoma of pancreas|pancreatic ductal adenocarcinoma|pancreatic tubular adenocarcinoma|malignant neoplasm of duct of Wirsung|pancreas ductal adenocarcinoma|pancreatic duct cancer											EFO:0002517|UMLS:C0887833|UMLS:C1335302|DOID:3498|MESH:D021441|NCIT:C9120|ICD10:C25.3|DOID:3587|ICD9:157.3																		owl:Class
UBERON:0007329	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021752	biolink:NamedThing	Achard-Thiers syndrome	Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women	mondoexuq1wtf	diabetes in bearded women|diabetic-bearded woman syndrome|Achard Thiers syndrome											GARD:0005709|MESH:C536013|UMLS:C0271732|SCTID:34041001														https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome				owl:Class
HP:0008035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043579	biolink:NamedThing	enteritis	Inflammation of the small intestine.	mondoexuq1wtf	enteritis|inflammation of small intestine|small intestine inflammation|enteritis, inflammatory disorder of small intestine|Enteritides|enteritis of small intestine											MESH:D004751|UMLS:C0014335|NCIT:C26765|SCTID:64613007																		owl:Class
UBERON:0002108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016864	biolink:NamedThing	Okihiro syndrome due to a point mutation		mondoexuq1wtf	Duane-radial ray syndrome due to a point mutation											ICD10:Q87.8|Orphanet:261647|UMLS:CN202209																		owl:Class
HGNC:21701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0056813	biolink:NamedThing	hormone-resistant breast carcinoma	Breast carcinoma that does not respond to hormone therapy.	mondoexuq1wtf	hormone-resistant breast cancer|hormone-refractory breast cancer|hormone-resistant breast carcinoma											NCIT:C114932																		owl:Class
NCIT:C147564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009703	biolink:NamedThing	myopathy with abnormal lipid metabolism		mondoexuq1wtf	lipid storage myopathy|myopathy with abnormal lipid metabolism|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency|LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency|LSMFLAD											OMIM:255100																		owl:Class
HGNC:24671	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004800	biolink:NamedThing	chronic dacryoadenitis	Chronic form of dacryoadenitis.	mondoexuq1wtf	dacryoadenitis, chronic											UMLS:C0155224|DOID:949|COHD:376416|ICD10:H04.02|ICD9:375.02|SCTID:4760008																		owl:Class
MONDO:0014047	biolink:NamedThing	Cowden syndrome 5	Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.	mondoexuq1wtf	PIK3CA Cowden disease|Cowden syndrome type 5|Cowden syndrome 5|Cowden disease caused by mutation in PIK3CA|CWS5											OMIM:615108|UMLS:C3554518																		owl:Class
HGNC:8975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008813	biolink:NamedThing	arachnoid cyst	Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)	mondoexuq1wtf	arachnoid cysts											NCIT:C3455|UMLS:C0078981|SCTID:33595009|GARD:0000017|Orphanet:2356|MedDRA:10049005|MESH:D016080|ICD10:G93.0														https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts				owl:Class
MONDO:0019834	biolink:NamedThing	pituitary hormone deficiency from meningeal origin		mondoexuq1wtf												Orphanet:95505																		owl:Class
HGNC:10933	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100113	biolink:NamedThing	hearing loss with skin disease	Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.	mondoexuq1wtf																														owl:Class
HGNC:4284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014220	biolink:NamedThing	myopathy due to myoadenylate deaminase deficiency		mondoexuq1wtf	MMDD|myoadenylate deaminase deficiency, myopathy due to|myopathy due to myoadenylate deaminase deficiency|myoadenylate deaminase deficiency|adenosine monophosphate deaminase-1 deficiency, myopathy due to|AMP deaminase 1 deficiency|AMP deaminase deficiency|adenosine monophosphate deaminase deficiency|adenosine monophosphate deaminase 1 deficiency|AMPD1 deficiency											OMIM:615511|GARD:0000547														https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency				owl:Class
HGNC:468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr5	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:634	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018660	biolink:NamedThing	hemophilia	Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.	mondoexuq1wtf												MedDRA:10061992|NCIT:C3093|GARD:0010418|UMLS:C0684275|Orphanet:448|SCTID:90935002																		owl:Class
UBERON:0001684	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5464	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100100	biolink:NamedThing	SELENON-related myopathy	Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.	mondoexuq1wtf	SEPN1-related myopathy							http://orcid.org/0000-0001-5208-3432																						owl:Class
HGNC:15999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28883	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008727	biolink:NamedThing	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.	mondoexuq1wtf	3b-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia II|adrenal hyperplasia 2|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|HSD3B deficiency|type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-beta HSD deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency|3-Beta-HSD deficiency|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF											OMIM:201810|SCTID:54470008|MESH:C538236|Orphanet:90791|NCIT:C131088|ICD10:E25.0|GARD:0009152																		owl:Class
GO:0102175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr1	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033839	biolink:NamedThing	osteoradionecrosis of the mandible		mondoexuq1wtf												Orphanet:521127																		owl:Class
HGNC:2475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007164	biolink:NamedThing	spastic ataxia 1	Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.	mondoexuq1wtf	SPAX1|autosomal dominant spastic ataxia caused by mutation in VAMP1|spastic ataxia 1, autosomal dominant|autosomal dominant spastic ataxia type 1|spastic ataxia type 1|VAMP1 autosomal dominant spastic ataxia											UMLS:C1970107|MESH:C566993|ICD10:G11.4|OMIM:108600|DOID:0050772|Orphanet:251282																		owl:Class
HGNC:12642	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017170	biolink:NamedThing	idiopathic recurrent stupor	Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	mondoexuq1wtf												SCTID:763739002|Orphanet:276174|UMLS:CN202595																		owl:Class
HGNC:10526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014451	biolink:NamedThing	focal segmental glomerulosclerosis 7	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.	mondoexuq1wtf	glomerulosclerosis, focal segmental, 7|focal segmental glomerulosclerosis type 7|PAX2 focal segmental glomerulosclerosis|FSGS7|focal segmental glomerulosclerosis 7|focal segmental glomerulosclerosis caused by mutation in PAX2											DOID:0111132|OMIM:616002|ICD10:N04.1|UMLS:C4014925																		owl:Class
HGNC:8616	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000488	biolink:NamedThing	periampullary adenoma	A adenoma that involves the periampullary region of duodenum.	mondoexuq1wtf	periampullary region of duodenum adenoma											DOID:0050849|UMLS:CN068444																		owl:Class
UBERON:0012273	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011860	biolink:NamedThing	leprosy, susceptibility to, 2		mondoexuq1wtf	LPRS2|leprosy, susceptibility to, 2											UMLS:C1843632|OMIM:607572														https://github.com/monarch-initiative/mondo/issues/2760				owl:Class
HGNC:8607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013024	biolink:NamedThing	chronic thromboembolic pulmonary hypertension	Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.	mondoexuq1wtf	Cteph, Dvt-negative, susceptibility to|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to|CTEPH											OMIM:612862|UMLS:C2363973|MedDRA:10068739|Orphanet:70591|ICD9:416.8|SCTID:233947005|ICD9:415.19|GARD:0013124														https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension				owl:Class
MONDO:0012756	biolink:NamedThing	proximal 16p11.2 microdeletion syndrome	The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	mondoexuq1wtf	microdeletion 16p11.2|autism, susceptibility to, 14A|16p11.2 deletion syndrome|chromosome 16p11.2 deletion syndrome|proximal del(16)(p11.2)|proximal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 593-KB|monosomy 16p11.2|Del(16)(p11.2)											OMIM:611913|ICD9:758.39|Orphanet:261197|GARD:0010740|NCIT:C120408|ICD10:Q93.5|SCTID:699307007|SCTID:718227006|UMLS:CN202166|MESH:C579850														https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome				owl:Class
MONDO:0002869	biolink:NamedThing	heart valve disease	A disease involving the cardial valve.	mondoexuq1wtf	disease of cardial valve|valvular heart disease|disease or disorder of cardial valve|disorder of cardial valve|cardial valve disease or disorder|disorder of heart valve|valvular heart disorder|cardial valve disease|heart valve disorder											UMLS:C0018824|MESH:D006349|ICD9:424.99|NCIT:C45525|SCTID:368009|DOID:4079																		owl:Class
UBERON:0000946	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020781	biolink:NamedThing	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		mondoexuq1wtf	NAD(P)HX epimerase deficiency|PEBEL1|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1											EFO:0009158|Orphanet:555407|OMIM:617186																		owl:Class
GO:0052856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014652	biolink:NamedThing	exudative vitreoretinopathy 6	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.	mondoexuq1wtf	EVR6|exudative vitreoretinopathy caused by mutation in ZNF408|exudative vitreoretinopathy 6|ZNF408 exudative vitreoretinopathy|exudative vitreoretinopathy type 6											OMIM:616468|DOID:0111410|UMLS:C4225316																		owl:Class
HGNC:20041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009308	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative		mondoexuq1wtf	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD, autosomal recessive cytochrome B-negative|Cyba deficiency|CGD due to deficiency of the Alpha Subunit of cytochrome B											UMLS:C1856255|OMIM:233690|MESH:C565533|DOID:0070193																		owl:Class
HGNC:2577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011272	biolink:NamedThing	retinitis pigmentosa 25	Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.	mondoexuq1wtf	EYS retinitis pigmentosa|RP25|RP 25|retinitis pigmentosa type 25|retinitis pigmentosa caused by mutation in EYS|retinitis pigmentosa 25											MESH:C566425|GARD:0010384|ICD10:H35.5|UMLS:C1864446|OMIM:602772|DOID:0110384														https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25				owl:Class
HGNC:21555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014675	biolink:NamedThing	autosomal recessive nonsyndromic deafness 104	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 104|DFNB104|autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2|autosomal recessive deafness 104|deafness, autosomal recessive 104|RIPOR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 104											OMIM:616515|UMLS:C4225298|DOID:0110465|ICD10:H90.3																		owl:Class
HGNC:13872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013500	biolink:NamedThing	immunodeficiency 51		mondoexuq1wtf	candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 5, formerly|IMD51|candidiasis, familial, 5|candidiasis, familial, type 5|immunodeficiency 51|CANDF5											UMLS:C4310803|OMIM:613953|UMLS:C3151402																		owl:Class
HGNC:5985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004465	biolink:NamedThing	periampullary adenocarcinoma	An adenocarcinoma that arises from the periampullary region.	mondoexuq1wtf	periampullary adenocarcinoma|periampullary region of duodenum adenocarcinoma|periampullary cancer											UMLS:C1335377|NCIT:C27322|DOID:8110																		owl:Class
GO:0009107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019610	biolink:NamedThing	Zollinger-Ellison syndrome	Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.	mondoexuq1wtf	gastrinoma|Zollinger Ellison syndrome|ZES|Zollinger-Ellison syndrome|Zollinger-Ellison syndrome (disease)|Z-E syndrome|Z E syndrome|pancreatic ulcerogenic tumor syndrome											ICD10:C25.4|UMLS:C0043515|ICD10:E16.4|NCIT:C3453|EFO:0007549|MESH:D015043|HP:0002044|MedDRA:10017852|ICD10:D37.7|SCTID:53132006|DOID:0050782|GARD:0007918|Orphanet:913																		owl:Class
UBERON:0003135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0025491	biolink:NamedThing	feline infectious peritonitis	Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.	mondoexuq1wtf	infectious peritonitides, feline|peritonitis, feline infectious|infectious peritonitis, feline|peritonitis, infectious, feline|FIP|feline infectious peritonitides											UMLS:C0085306|MESH:D016766																		owl:Class
NCBITaxon:11135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008483	biolink:NamedThing	stuttering, familial persistent, 1		mondoexuq1wtf	STUT1|stammering|stuttering, familial persistent, 1											OMIM:184450																		owl:Class
HGNC:7892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3571	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019783	biolink:NamedThing	neovascular glaucoma	Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.	mondoexuq1wtf	secondary angle-closure glaucoma with rubeosis											UMLS:C0017609|SCTID:232086000|EFO:1001060|DOID:1687|MedDRA:10062891|MESH:D015355|Orphanet:94058																		owl:Class
MONDO:0012435	biolink:NamedThing	3-methylglutaconic aciduria type 5	A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.	mondoexuq1wtf	3 alpha methylglutaconic aciduria type V|3-methylglutaconic aciduria caused by mutation in DNAJC19|3-methylglutaconic aciduria type 5|dilated cardiomyopathy with ataxia|MGA V|Mga, type 5|3-methylglutaconic aciduria type V|MGCA5|DNAJC19 3-methylglutaconic aciduria|DCMA syndrome|MGA5|MGA 5|3-Methylglutaconic aciduria, type 5|DCMA|3-METHYLGLUTACONIC aciduria, type V|cardiomyopathy, dilated, with ataxia|3 methylglutaconic aciduria type V											GARD:0012964|UMLS:C4039473|Orphanet:66634|DOID:0110000|MESH:C565706|GARD:0010344|UMLS:C1857776|OMIM:610198|ICD10:E71.1|SCTID:711412004														https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v				owl:Class
HGNC:30528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31928	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:64320	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19353	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009223	biolink:NamedThing	hypogonadotropic hypogonadism 23 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 23 without anosmia|Leydig cell hypoplasia due to LHB deficiency|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to luteinizing hormone subunit beta deficiency|46,XY disorder of sex development due to LHB deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|LHB hypogonadotropic hypogonadism|fertile eunuch syndrome|HH23|46,XY DSD due to LHB deficiency|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|Pasqualini syndrome											UMLS:C0271582|Orphanet:325448|SCTID:8829008|OMIM:228300|ICD9:253.4|MESH:C537919|ICD10:Q56.1|GARD:0010127|DOID:0090091																		owl:Class
HGNC:6584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010962	biolink:NamedThing	diffuse nonepidermolytic palmoplantar keratoderma		mondoexuq1wtf	tylosis|krt1-related diffuse nonepidermolytic keratoderma|nonepidermolytic palmoplantar keratoderma|PPK diffusa circumscripta|Thost-Unna disease|Unna-Thost palmoplantar keratoderma|keratoderma, nonepidermolytic palmoplantar|diffuse nonepidermolytic palmoplantar keratoderma|PPKNE|NEPPK|diffuse NEPPK|palmoplantar keratoderma, nonepidermolytic|Thost-Unna palmoplantar keratoderma											OMIM:600962|Orphanet:496|Orphanet:530838|GARD:0005186																		owl:Class
MONDO:0034104	biolink:NamedThing	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		mondoexuq1wtf												Orphanet:544488																		owl:Class
HGNC:8109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100058	biolink:NamedThing	hypervalinemia and hyperleucine-isoleucinemia	Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.	mondoexuq1wtf	hypervalinemia and hyperleucine-isoleucinemia|HVLI|branched-chain aminotransferase deficiency				2018-08-31 20:51:10+00:00						MONDO:0030016	OMIM:618850																		owl:Class
HP:0010910	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014346	biolink:NamedThing	white sponge nevus 2		mondoexuq1wtf	WHITE sponge NEVUS 2|WSN2|White sponge Nevus type 2|white sponge nevus 2											UMLS:C4014321|OMIM:615785																		owl:Class
HGNC:6415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012011	biolink:NamedThing	coronary artery disease, autosomal dominant, 1	Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.	mondoexuq1wtf	coronary artery disease caused by mutation in MEF2A|coronary artery disease, autosomal dominant, 1|ADCAD1|coronary artery disease, autosomal dominant, type 1|MEF2A coronary artery disease|coronary artery disease with myocardial infarction											OMIM:608320|MESH:C564258|UMLS:C1842247																		owl:Class
HGNC:6993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013962	biolink:NamedThing	hereditary spastic paraplegia 53	A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.	mondoexuq1wtf	hereditary spastic paraplegia type 53|autosomal recessive spastic paraplegia 53|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|autosomal recessive spastic paraplegia type 53|spastic paraplegia 53, autosomal recessive|SPG53|VPS37A autosomal recessive complex spastic paraplegia											SCTID:723823004|UMLS:C4510082|ICD10:G11.4|UMLS:C3539494|OMIM:614898|DOID:0110805|Orphanet:319199																		owl:Class
HGNC:24928	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012485	biolink:NamedThing	autosomal recessive nonsyndromic deafness 68	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 68|autosomal recessive deafness 68|deafness, autosomal recessive 68|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|DFNB68|S1PR2 autosomal recessive nonsyndromic deafness											UMLS:C1835854|MESH:C563669|OMIM:610419|ICD10:H90.3|DOID:0110519																		owl:Class
HGNC:3169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021849	biolink:NamedThing	alopecia macular degeneration growth retardation syndrome		mondoexuq1wtf	alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation					Editor note: check relationshop to EEM						GARD:0000610														https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation				owl:Class
HP:0000608	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014439	biolink:NamedThing	Bardet-Biedl syndrome 11	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.	mondoexuq1wtf	Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome type 11|BBS11|TRIM32 Bardet-Biedl syndrome|Bardet-Biedl syndrome 11											GARD:0010210|DOID:0110133|UMLS:C1859569|ICD10:Q87.89|MESH:C565920|OMIM:615988																		owl:Class
HGNC:16380	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9722	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024566	biolink:NamedThing	febrile seizures, familial, 11		mondoexuq1wtf	convulsions, familial febrile, 11|febrile seizures, familial, 11|FEB11											DOID:0111308|UMLS:C3280734|OMIM:614418																		owl:Class
HGNC:17245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012289	biolink:NamedThing	myofibrillar myopathy 5	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	mondoexuq1wtf	muscle filaminopathy|myopathy, myofibrillar, 5|myofibrillar myopathy (disease) caused by mutation in FLNC|FLNC myofibrillar myopathy (disease)|filaminopathy|myopathy, myofibrillar, type 5|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy type 5|filaminopathy, autosomal dominant|MFM5											OMIM:609524|MESH:C537932|Orphanet:171445|DOID:0080096|ICD10:G71.8																		owl:Class
HGNC:3756	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014469	biolink:NamedThing	autosomal recessive nonsyndromic deafness 103	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.	mondoexuq1wtf	DFNB103|deafness, autosomal recessive type 103|deafness, autosomal recessive 103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|CLIC5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 103											ICD10:H90.3|UMLS:C4015050|OMIM:616042|DOID:0110464																		owl:Class
HGNC:13517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009326	biolink:NamedThing	congenital heart block	Heart block that occurs on or before 28 days of life.	mondoexuq1wtf	congenital atrioventricular block|heart block, congenital											MESH:C535758|MedDRA:10019263|SCTID:46619002|COHD:315069|DOID:990|ICD10:Q24.6|UMLS:C0149530|Orphanet:60041|ICD9:746.86|GARD:0006164|OMIM:234700														https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block				owl:Class
MONDO:0009482	biolink:NamedThing	hypogonadotropic hypogonadism 3 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism caused by mutation in PROKR2|hypogonadotropic hypogonadism 3 with or without anosmia|Kallmann syndrome 3|PROKR2 hypogonadotropic hypogonadism|HH3|KAL3											GARD:0003073|UMLS:C3550478|ICD10:E23.0|OMIM:244200|DOID:0090092																		owl:Class
HGNC:15836	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030037	biolink:NamedThing	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES|Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures											OMIM:618879																		owl:Class
HGNC:8965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010664	biolink:NamedThing	syndromic X-linked intellectual disability Snyder type	Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.	mondoexuq1wtf	intellectual disability, X-linked, Snyder-Robinson type|mental retardation, X-linked, syndromic, Snyder-Robinson type|SRS|spermine synthase deficiency|intellectual disability, X-linked, syndromic, Snyder-Robinson type|MRXSSR|Snyder-Robinson mental retardation syndrome|mental retardation, X-linked, Snyder-Robinson type|Snyder-Robinson syndrome|Snyder-Robinson intellectual disability syndrome|X-linked intellectual disability, Snyder type|X-linked mental retardation Snyder-Robinson type|X-linked intellectual disability Snyder-Robinson type											UMLS:C0796160|GARD:0005615|Orphanet:3063|MESH:C536678|ICD9:758.89|ICD10:Q87.8|DOID:0060802|SCTID:702416008|OMIM:309583																		owl:Class
HGNC:11123	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014477	biolink:NamedThing	developmental and epileptic encephalopathy, 26	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.	mondoexuq1wtf	DEE26|epileptic encephalopathy, early infantile, 26|early infantile epileptic encephalopathy caused by mutation in KCNB1|EIEE26|KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 26|early infantile epileptic encephalopathy 26											GARD:0012391|UMLS:C4015119|OMIM:616056|DOID:0080461														https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26				owl:Class
HGNC:6231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:186536	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009211	biolink:NamedThing	congenital factor VII deficiency	Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.	mondoexuq1wtf	factor 7 deficiency|congenital proconvertin deficiency|hypoproconvertinemia|F7 deficiency|factor VII deficiency											MedDRA:10016079|GARD:0002238|NCIT:C131631|ICD10:D68.2|DOID:2215|Orphanet:327|UMLS:C1394919|OMIM:227500																		owl:Class
HP:0008169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013039	biolink:NamedThing	3M syndrome 2	Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.	mondoexuq1wtf	3M syndrome 2|three M syndrome type 2|3-M syndrome caused by mutation in OBSL1|OBSL1 3-M syndrome|three M syndrome 2|3M2											UMLS:C2752041|MESH:C567862|OMIM:612921																		owl:Class
HGNC:29092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10702	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1639	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009066	biolink:NamedThing	juvenile nephropathic cystinosis	Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	mondoexuq1wtf	intermediate cystinosis|juvenile cystinosis|cystinosis, intermediate|cystinosis, late-onset juvenile or adolescent nephropathic type											UMLS:C0268626|Orphanet:411634|EFO:0009049|ICD10:N16.3*|MESH:C562683|OMIM:219900|SCTID:22830006|ICD10:E72.0+																		owl:Class
MONDO:0014011	biolink:NamedThing	autosomal recessive congenital ichthyosis 10	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.	mondoexuq1wtf	ichthyosis, congenital, autosomal recessive type 10|ARCI10|autosomal recessive congenital ichthyosis type 10|ichthyosis, congenital, autosomal recessive 10											DOID:0060719|OMIM:615024|ICD10:Q80.2|UMLS:C3554355																		owl:Class
HGNC:21246	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014795	biolink:NamedThing	exercise intolerance, riboflavin-responsive		mondoexuq1wtf	RREI|exercise intolerance, riboflavin-responsive											UMLS:C4225187|OMIM:616839																		owl:Class
HGNC:29683	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011957	biolink:NamedThing	retinal macular dystrophy type 2	Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.	mondoexuq1wtf	MCDR2|macular dystrophy, retinal, type 2|macular dystrophy, retinal, 2											OMIM:608051|MESH:C562746|Orphanet:319640|ICD10:H35.5																		owl:Class
UBERON:0002298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010555	biolink:NamedThing	X-linked chondrodysplasia punctata 1	Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.	mondoexuq1wtf	CDPX1|X-linked chondrodysplasia punctata caused by mutation in arse|chondrodysplasia punctata brachytelephalangic|CPXR|Cpxr|chondrodysplasia punctata, Brachytelephalangic|arse X-linked chondrodysplasia punctata|chondrodysplasia punctata 1, X-linked recessive|arylsulfatase E deficiency|ARSE X-linked chondrodysplasia punctata|chondrodysplasia punctata 1 X-linked recessive|chondrodysplasia punctata, brachytelephalangic|brachytelephalangic chondrodysplasia punctata|X-linked chondrodysplasia punctata caused by mutation in ARSE											UMLS:C1844853|ICD10:Q77.3|Orphanet:79345|OMIM:302950|UMLS:C3669395|GARD:0001296														https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive				owl:Class
HGNC:719	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019912	biolink:NamedThing	maternal uniparental disomy of chromosome 6	Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	mondoexuq1wtf	UPD(6)mat|maternal uniparental disomy of chromosome type 6											SCTID:766239009|ICD10:Q99.8|Orphanet:96181																		owl:Class
OBO:CHR_9606-chr6	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014792	biolink:NamedThing	Paget disease of bone 6		mondoexuq1wtf	Paget disease of bone 6|Paget disease of bone type 6|Paget disease of bone 6; PDB6|PDB6											UMLS:C4085250|OMIM:616833																		owl:Class
HGNC:29277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000327	biolink:NamedThing	Buruli ulcer disease	A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.	mondoexuq1wtf	Mycobacterium ulcerans infectious disease|Bairnsdale ulcer|Mycobacterium ulcerans disease or disorder|Mossman ulcer|Buruli ulcer|Mycobacterium ulcerans caused disease or disorder|Searl ulcer|Daintree ulcer|Searle's ulcer											NCIT:C84604|DOID:0050456|UMLS:C0085568|MESH:D054312|SCTID:15845006|EFO:1001281|ICD10:A31.1																		owl:Class
NCBITaxon:1809	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012509	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 1	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.	mondoexuq1wtf	PPNAD1|adrenocortical nodular dysplasia, primary|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|Cushing syndrome, adrenal, due to PPNAD1|PRKAR1A primary pigmented nodular adrenocortical disease|pigmented micronodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, type 1											OMIM:610489|MESH:C566469																		owl:Class
UBERON:0001332	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012125	biolink:NamedThing	hypomyelinating leukodystrophy 2	Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.	mondoexuq1wtf	Pelizaeus-Merzbacher-like disease due to GJC2 mutation|leukodystrophy, hypomyelinating, 2|leukodystrophy, hypomyelinating, type 2|Pelizaeus-Merzbacher-like disease 1|PMLD1|HLD2|hypomyelinating leukodystrophy type 2|leukodystrophy caused by mutation in GJC2|GJC2 leukodystrophy|Pelizaeus-Merzbacher-like disease, 1											UMLS:C1837355|MESH:C563855|ICD10:E75.2|Orphanet:280282|DOID:0060787|OMIM:608804																		owl:Class
HGNC:17494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013402	biolink:NamedThing	retinitis pigmentosa 27	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.	mondoexuq1wtf	retinal Degeneration, autosomal recessive, Clumped pigment type|retinitis pigmentosa caused by mutation in NRL|RP27|retinitis pigmentosa 27|retinitis pigmentosa type 27|NRL retinitis pigmentosa											MESH:C563526|OMIM:613750|DOID:0110397|UMLS:C1834329|ICD10:H35.5																		owl:Class
HGNC:8002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005279	biolink:NamedThing	pulmonary embolism	The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.	mondoexuq1wtf	embolism, pulmonary|pulmonary embolism|pulmonary embolism (disease)|pulmonary artery embolism|pulmonary embolus		pulmonary embolism (disease)									ICD10:I26|ICD9:415.19|DOID:9477|EFO:0003827|MESH:D011655|UMLS:C0034065|SCTID:59282003|NCIT:C50713|HP:0002204|ICD10:I26.99|COHD:440417																		owl:Class
NCBITaxon:11072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007606	biolink:NamedThing	fibrodysplasia ossificans progressiva	Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.	mondoexuq1wtf	progressive ossifying myositis|Stone Man syndrome|progressive myositis ossificans|fop|fibrodysplasia ossificans progressiva|myositis ossificans progressiva|Stone man syndrome											MedDRA:10068715|GARD:0006445|Orphanet:337|ICD9:728.11|UMLS:C0016037|SCTID:82725007|DOID:13374|OMIM:135100|ICD10:M61.1|NCIT:C3040|ICD10:M61.10																		owl:Class
HGNC:171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012369	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 6		mondoexuq1wtf	SLEB6|systemic lupus erythematosus, susceptibility to, 6											OMIM:609939																		owl:Class
HGNC:6149	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008412	biolink:NamedThing	intestinal schistosomiasis	An intestinal infection that is caused by Schistosoma japonicum.	mondoexuq1wtf	Schistosoma mansoni infection, susceptibility/resistance to|Schistosoma mansoni, intensity of infection by|schistosomiasis japonica|Katayama fever											EFO:1001419|OMIM:181460|ICD9:120.2|ICD10:B65.1|ICD10:B65.2|ICD9:120.1|DOID:0050597|SCTID:240796008																		owl:Class
MONDO:0012549	biolink:NamedThing	autosomal recessive ataxia, Beauce type	A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	mondoexuq1wtf	cerebellar ataxia, autosomal recessive, type 1|spinocerebellar ataxia, autosomal recessive type 8|spinocerebellar ataxia autosomal recessive 8|SYNE1-related autosomal recessive cerebellar ataxia|ataxia, recessive, of Beauce|SCAR8|autosomal recessive ataxia Beauce type|ARCA1|spinocerebellar ataxia, autosomal recessive 8|autosomal recessive cerebellar ataxia type 1|recessive ataxia of Beauce|autosomal recessive spinocerebellar ataxia 8											GARD:0012234|ICD10:G11.2|UMLS:C1853116|Orphanet:88644|UMLS:C3683483|OMIM:610743|DOID:0111618																		owl:Class
GO:0007548	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016588	biolink:NamedThing	infantile mercury poisoning	Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	mondoexuq1wtf	infantile mercury intoxication|Swift-Feer disease|infantile acrodynia|Feer disease|pink disease|Swift disease|erythroedema polyneuritis											SCTID:66695004|MESH:D000170|Orphanet:247165|UMLS:CN201782|ICD10:T56.1																		owl:Class
MONDO:0003996	biolink:NamedThing	basal ganglia disease	A disease involving the basal ganglia.	mondoexuq1wtf	collection of basal ganglia disease or disorder|collection of basal ganglia disease|basal ganglia disease|disease of collection of basal ganglia|disease of basal ganglia|disorder of basal ganglia|disease or disorder of collection of basal ganglia|disorder of collection of basal ganglia											ICD9:333.0|UMLS:C0004782|SCTID:70835005|CSP:2057-3403|MESH:D001480|DOID:679																		owl:Class
UBERON:0010011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014759	biolink:NamedThing	intellectual disability, autosomal recessive 51	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.	mondoexuq1wtf	MRT51|mental retardation, autosomal recessive 51|intellectual disability, autosomal recessive 51|HNMT autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 51|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|intellectual disability, autosomal recessive type 51											UMLS:C4225220|OMIM:616739																		owl:Class
HGNC:5028	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C45980	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6990	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002839	biolink:NamedThing	leather-bottle stomach	A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.	mondoexuq1wtf	linitis plastica (morphologic abnormality)|linitis plastica											DOID:4023|MESH:D008039|NCIT:C3190|ICDO:8142/3|UMLS:C0023743																		owl:Class
UBERON:0001167	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013480	biolink:NamedThing	renal hypomagnesemia 6		mondoexuq1wtf	HOMG6|renal hypomagnesemia type 6|hypomagnesemia 6, renal|renal hypomagnesemia-6											DOID:0060884|ICD10:E83.4|UMLS:C3151295|OMIM:613882|GARD:0012155														https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6				owl:Class
HGNC:103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015791	biolink:NamedThing	peripheral precocious puberty	Precocious puberty caused by sex hormones.	mondoexuq1wtf	gonadotropin independent precocious puberty|precocious pseudopuberty|GIPP|gonadotropin-independent precocious puberty											SCTID:736606009|ICD10:E30.1|Orphanet:178040																		owl:Class
MONDO:0012320	biolink:NamedThing	migraine, familial hemiplegic, 3	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.	mondoexuq1wtf	familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, type 3|SCN1A familial or sporadic hemiplegic migraine|FHM3|migraine, familial hemiplegic, 3											MESH:C566500|GARD:0010974|DOID:0111183|OMIM:609634|UMLS:C1864987																		owl:Class
MONDO:0011403	biolink:NamedThing	left ventricular noncompaction 1	Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.	mondoexuq1wtf	left ventricular noncompaction 1|LVNC1|DTNA left ventricular noncompaction|left ventricular noncompaction caused by mutation in DTNA|left ventricular noncompaction type 1|left ventricular noncompaction 1 with or without congenital heart defects											UMLS:C1858725|OMIM:604169																		owl:Class
HGNC:3057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001776	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000681	biolink:NamedThing	tactile agnosia	An agnosia that is a loss of the ability to recognize or identify objects by touch alone.	mondoexuq1wtf												DOID:0060151																		owl:Class
GO:0050975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009864	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency, mitochondrial		mondoexuq1wtf	PEPCK2|PCK2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|PEPCK2 deficiency|PEPCK 2 deficiency|phosphoenolpyruvate carboxykinase 2 deficiency											GARD:0004279|UMLS:C1849821|MESH:C564890|Orphanet:79317|OMIM:261650																		owl:Class
HGNC:8725	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008856	biolink:NamedThing	immunodeficiency 27A		mondoexuq1wtf	atypical mycobacteriosis, familial|atypical mycobacterial infection, disseminated|immunodeficiency 27A|mycobacterial disease, Mendelian susceptibility to|immunodeficiency type 27A|IMD27A|atypical mycobacterial infection, familial disseminated|IFNGR1 deficiency, autosomal recessive|immunodeficiency 27A, Mycobacteriosis, autosomal recessive											GARD:0009185|UMLS:C4011949|OMIM:209950																		owl:Class
HP:0000007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007748	biolink:NamedThing	hypercalciuria, absorptive, 2		mondoexuq1wtf	hypercalciuria, absorptive, type 2|hypercalciuria, absorptive, 2|HCA2|hypercalciuria, familial idiopathic											SCTID:237886009|OMIM:143870|ICD9:V18.19|MESH:C562790																		owl:Class
HGNC:21285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024412	biolink:NamedThing	Peptostreptococcus infectious disease	A disease caused by infection with Peptostreptococcus.	mondoexuq1wtf	Peptostreptococcus infection|Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder											UMLS:C1096562|SCTID:135341000119101|ICD9:041.84																		owl:Class
NCBITaxon:1257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008152	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013562	biolink:NamedThing	aspergillosis, susceptibility to		mondoexuq1wtf	susceptibility to aspergillosis|aspergillosis, susceptibility to											OMIM:614079																		owl:Class
MONDO:0005657	biolink:NamedThing	aspergillosis	Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.	mondoexuq1wtf	infection due to Aspergillus											ICD10:B44|ICD10:B44.7|NCIT:C2886|MESH:D001228|GARD:0005856|ICD9:117.3|ICD10:B44.2|COHD:434281|DOID:13564|EFO:0007157|ICD10:B44.9|SCTID:65553006|CSP:1988-4002|ICD10:B44.0|Orphanet:1163|UMLS:C0004030|MedDRA:10003488|ICD10:B44.8|ICD10:B44.1														https://rarediseases.info.nih.gov/diseases/5856/aspergillosis				owl:Class
MONDO:0011866	biolink:NamedThing	pontocerebellar hypoplasia type 1A	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.	mondoexuq1wtf	VRK1 non-syndromic pontocerebellar hypoplasia|Pch1|PCH1A|pontocerebellar hypoplasia with infantile spinal muscular atrophy|non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|pontocerebellar hypoplasia, type 1A|pontocerebellar hypoplasia with anterior horn cell disease											DOID:0060265|OMIM:607596																		owl:Class
HGNC:12718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014375	biolink:NamedThing	congenital diarrhea 7 with exudative enteropathy	Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.	mondoexuq1wtf	congenital diarrhea caused by mutation in DGAT1|DGAT1 congenital diarrhea|DIAR7|diarrhea type 7|congenital chronic diarrhea with exudative enteropathy|diarrhea 7|congenital chronic diarrhea with protein-losing enteropathy											DOID:0060778|ICD10:P78.3|Orphanet:329242|UMLS:C4014516|OMIM:615863																		owl:Class
HGNC:2843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005109	biolink:NamedThing	HIV infectious disease	An infection caused by the human immunodeficiency virus.	mondoexuq1wtf	Human immunodeficiency virus disease or disorder|HIV infection|human immunodeficiency virus infectious disease|Human immunodeficiency virus caused disease or disorder|Human immunodeficiency virus infectious disease											EFO:0000764|UMLS:C0019693|ICD10:B20.B24|SCTID:86406008|DOID:526|ICD9:042-042.99|NCIT:C3108|ICD10:B20|MESH:D015658|ICD9:042|ICD10:B20-B20																		owl:Class
NCBITaxon:11676	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005542	biolink:NamedThing	acute coronary syndrome	Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.	mondoexuq1wtf	coronary syndrome, acute|syndromes, acute coronary|syndrome, acute coronary|coronary syndromes, acute|acute coronary syndromes|acute coronary syndrome											MESH:D054058|SCTID:394659003|NCIT:C53652|EFO:0005672|UMLS:C0948089																		owl:Class
MONDO:0008747	biolink:NamedThing	oculocutaneous albinism type 3	Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.	mondoexuq1wtf	xanthous oculocutaneous albinism|ROCA|albinism, oculocutaneous, type III|OCA3|albinism, oculocutaneous, type 3|oculocutaneous albinism type III|rufous oculocutaneous albinism|TYRP1 oculocutaneous albinism|Xanthism|Red oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYRP1|oculocutaneous albinism, type 3|albinism 3|rufous OCA											SCTID:63450009|DOID:0070097|GARD:0004039|MESH:C537731|ICD9:270.2|ICD10:E70.3|Orphanet:79433|OMIM:203290|GARD:0009641																		owl:Class
HGNC:12450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044033	biolink:NamedThing	posterior leukoencephalopathy syndrome	An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.	mondoexuq1wtf	PRES|reversible Posterior leukoencephalopathy syndrome|leukoencephalopathy syndromes, Posterior|syndromes, Posterior leukoencephalopathy|leukoencephalopathy syndrome, Posterior|posterior reversible encephalopathy syndrome|syndrome, Posterior leukoencephalopathy|reversible Posterior cerebral edema syndrome|reversible posterior leukoencephalopathy syndrome|Posterior reversible encephalopathy syndrome|RPLE|reversible occipital parietal encephalopathy											SCTID:450886002|NCIT:C78598|MESH:D054038|EFO:1001804																		owl:Class
HP:0002352	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014149	biolink:NamedThing	fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	mondoexuq1wtf	lethal congenital contracture syndrome type 5|lethal congenital contracture syndrome 5|LCCS5|myopathy, centronuclear, lethal, autosomal recessive											SCTID:763346009|UMLS:C3809272|ICD10:G71.2|Orphanet:363409|OMIM:615368																		owl:Class
HGNC:2974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014329	biolink:NamedThing	atrial standstill 2	Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.	mondoexuq1wtf	atrial standstill type 2|cardiomyopathy, atrial dilated, with atrial standstill|atrial dilation and standstill|atrial standstill 2|atrial standstill caused by mutation in NPPA|NPPA atrial standstill|ATRST2											UMLS:C3810401|OMIM:615745																		owl:Class
HGNC:7939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr18	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000992	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008294	biolink:NamedThing	acute intermittent porphyria	Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.	mondoexuq1wtf	porphyria, Swedish type|uroporphyrinogen synthase deficiency|hydroxymethylbilane synthase deficiency|porphyria, Chester type|porphyria, acute intermittent|pyrroloporphyria|UPS deficiency|HMBS deficiency|porphyria, acute intermittent, Nonerythroid variant|AIP|porphyria intermittent acute|AIP - acute intermittent porphyria|PBGD deficiency|porphobilinogen deaminase deficiency											DOID:3890|OMIM:176000|UMLS:C0162565|NCIT:C84536|ICD10:E80.2|SCTID:234422006|GARD:0005732|Orphanet:79276|MESH:D017118																		owl:Class
HGNC:4982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010844	biolink:NamedThing	epiphyseal dysplasia, multiple, 2	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.	mondoexuq1wtf	epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2|epiphyseal dysplasia multiple 2|EDM2|epiphyseal dysplasia, multiple, type 2|multiple epiphyseal dysplasia 2|COL9A2 multiple epiphyseal dysplasia (disease)											GARD:0009791|OMIM:600204|UMLS:C1838429|DOID:0070298|MESH:C535502														https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2				owl:Class
HGNC:2218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:130	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013315	biolink:NamedThing	retinitis pigmentosa 57	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.	mondoexuq1wtf	RP57|retinitis pigmentosa 57|retinitis pigmentosa type 57|retinitis pigmentosa caused by mutation in PDE6G|PDE6G retinitis pigmentosa											UMLS:C3150821|OMIM:613582|DOID:0110407|ICD10:H35.5																		owl:Class
HGNC:8789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004545	biolink:NamedThing	adult malignant schwannoma	A malignant peripheral nerve sheath tumor occurring during adulthood.	mondoexuq1wtf	malignant peripheral nerve sheath tumor|adult malignant tumor of the peripheral nerve sheath|adult malignant schwannoma|adult malignant neoplasm of peripheral nerve sheath|adult MPNST|adult malignant tumor of peripheral nerve sheath|adult childhood malignant schwannoma|adult malignant neoplasm of the peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|adult malignant neurilemmoma|adult malignant peripheral nerve sheath neoplasm|childhood malignant schwannoma of adults											NCIT:C7814|UMLS:C0278622|DOID:8369																		owl:Class
MONDO:0004206	biolink:NamedThing	pulmonary vein leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of pulmonary vein											UMLS:C1335575|NCIT:C5374|DOID:7388																		owl:Class
UBERON:0002016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022916	biolink:NamedThing	cystic hygroma lethal cleft palate		mondoexuq1wtf	Cowchock Wapner Kurtz syndrome											GARD:0001653														https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate				owl:Class
MONDO:0020193	biolink:NamedThing	secretory apparatus of the lacrimal system anomaly		mondoexuq1wtf	disorder of lacrimal gland|disease of lacrimal gland|lacrimal gland disease											Orphanet:98603																		owl:Class
GO:0005592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007541	biolink:NamedThing	endometriosis, susceptibility to, 1		mondoexuq1wtf	endometriosis, susceptibility to, 1|endometriosis, susceptibility to, type 1|ENDO1											OMIM:131200																		owl:Class
HP:0000027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013986	biolink:NamedThing	combined oxidative phosphorylation defect type 14	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.	mondoexuq1wtf	combined oxidative phosphorylation deficiency 14|COXPD14|combined oxidative phosphorylation deficiency caused by mutation in FARS2|FARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 14											ICD10:E88.8|Orphanet:319519|UMLS:C3554168|DOID:0111477|OMIM:614946																		owl:Class
HGNC:21062	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014818	biolink:NamedThing	nephrotic syndrome, type 13	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.	mondoexuq1wtf	NPHS13|nephrotic syndrome, type 13; NPHS13|nephrotic syndrome, type 13|familial nephrotic syndrome caused by mutation in NUP205|NUP205 familial nephrotic syndrome											OMIM:616893|DOID:0080381|UMLS:C4225165																		owl:Class
HGNC:18658	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011774	biolink:NamedThing	autosomal recessive nonsyndromic deafness 30	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in MYO3A|deafness, autosomal recessive 30|deafness, autosomal recessive type 30|autosomal recessive nonsyndromic deafness type 30|MYO3A autosomal recessive nonsyndromic deafness|DFNB30|autosomal recessive deafness 30											DOID:0110489|MESH:C564624|ICD10:H90.3|UMLS:C1846784|OMIM:607101																		owl:Class
HGNC:7601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011577	biolink:NamedThing	myopathy, proximal, and ophthalmoplegia		mondoexuq1wtf	myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|myopathy, proximal, and ophthalmoplegia|MYOPATHY, proximal, and ophthalmoplegia|MYPOP|inclusion body myopathy 3, autosomal dominant, formerly|inclusion body myopathy 3, autosomal dominant											MESH:C565311|UMLS:C1854106|OMIM:605637																		owl:Class
HGNC:7572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002616	biolink:NamedThing	mesenchymal cell neoplasm	A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.	mondoexuq1wtf	mesenchymal cell tumor|mesenchymal cell neoplasm|mesenchymal neoplasm|benign miscellaneous mesenchymal tumor|mesenchymal tumor											UMLS:C1334699|NCIT:C7059|DOID:3350																		owl:Class
CL:0008019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013472	biolink:NamedThing	fatal infantile hypertonic myofibrillar myopathy		mondoexuq1wtf	alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|MFM, fatal infantile hypertonic, alpha-B crystallin-related|fatal infantile hypertonic myofibrillar myopathy|myofibrillar myopathy type 7|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related											Orphanet:280553|UMLS:C3151236|OMIM:613869|DOID:0080309|ICD10:G71.2																		owl:Class
HGNC:2389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010366	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013864	biolink:NamedThing	Cornelia de Lange syndrome 4	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.	mondoexuq1wtf	Cornelia DE Lange syndrome 4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia de Lange syndrome 4|CDLS4|RAD21 Cornelia de Lange syndrome|Cornelia De Lange syndrome type 4											OMIM:614701|UMLS:C3553517|DOID:0080508																		owl:Class
HGNC:9811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004075	biolink:NamedThing	infiltrating lipoma	A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.	mondoexuq1wtf	intramuscular lipoma|intramuscular lipoma (morphologic abnormality)											NCIT:C7451|UMLS:C0334473|DOID:7014																		owl:Class
PATO:0002129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3518	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001113	biolink:NamedThing	Fiedler's myocarditis		mondoexuq1wtf	isolated (Fiedler's) myocarditis|fiedler myocarditis|idiopathic myocarditis											DOID:10778|COHD:317307|UMLS:C0155689|SCTID:266238009|ICD9:422.91|ICD10:I40.1																		owl:Class
GO:0006568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014125	biolink:NamedThing	symphalangism, proximal, 1B	Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.	mondoexuq1wtf	SYM1B|symphalangism, proximal, type 1B|GDF5 proximal symphalangism (disease)|symphalangism, proximal, 1B|proximal symphalangism (disease) caused by mutation in GDF5											OMIM:615298|UMLS:C3809104																		owl:Class
HGNC:600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012037	biolink:NamedThing	intellectual disability, autosomal recessive 3	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.	mondoexuq1wtf	MRT3|autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|intellectual disability, autosomal recessive 3|mental retardation, autosomal recessive type 3|CC2D1A autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 3|mental retardation, autosomal recessive 3											MESH:C563929|OMIM:608443|UMLS:C1838023																		owl:Class
HGNC:30237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700070	biolink:NamedThing	myopathy caused by varation in POMT1	Any myopathy in which the cause of the disease is a varation in the POMT1 gene.	mondoexuq1wtf	myopathy caused by mutation in POMT1|POMT1 myopathy|POMT1-related myopathy							http://orcid.org/0000-0002-4142-7153																						owl:Class
HGNC:9202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020500	biolink:NamedThing	Marburg hemorrhagic fever	Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.	mondoexuq1wtf	Marburg virus disease|MHF|Marburg disease|Green monkey disease											MESH:D008379|ICD10:A98.3|NCIT:C84883|ICD9:078.89|UMLS:C0024788|EFO:0007358|MedDRA:10026822|DOID:4327|SCTID:77503002|GARD:0009444|Orphanet:99826														https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever				owl:Class
NCBITaxon:186537	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0029133	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal dominant 4		mondoexuq1wtf	LGMDD4|muscular dystrophy, limb-girdle, autosomal dominant 4|muscular dystrophy, limb-girdle, type 1I											OMIM:618129																		owl:Class
HGNC:1480	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:186538	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000552	biolink:NamedThing	breast lobular carcinoma	An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.	mondoexuq1wtf	lobular carcinoma|lobular breast carcinoma|carcinoma of lobule of mammary gland|lobular carcinoma of the breast|lobular adenocarcinoma|lobular carcinoma of breast|lobule of mammary gland carcinoma											DOID:0050938|SCTID:278054005|NCIT:C3771|ICDO:8520/3|EFO:0008509																		owl:Class
UBERON:0001912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013545	biolink:NamedThing	atrial fibrillation, familial, 12	Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.	mondoexuq1wtf	ABCC9 familial atrial fibrillation|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, type 12|atrial fibrillation, familial, 12|ATFB12											UMLS:C3279695|OMIM:614050																		owl:Class
UBERON:0035549	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001540	biolink:NamedThing	bagassosis	An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.	mondoexuq1wtf	extrinsic allergic alveolitis from bagasse|sugar cane worker pneumonitis|bagasse extrinsic allergic alveolitis											ICD10:J67.1|SCTID:67242002|NCIT:C34409|UMLS:C0004681|DOID:12522|ICD9:495.1																		owl:Class
ENVO:00002872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023258	biolink:NamedThing	glycogen storage disease type 1 due to SLC37A4 mutation	Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.	mondoexuq1wtf	G6P translocase deficiency|SLC37A4 glycogen storage disease I|glucose-6-phosphate translocase deficiency|glycogen storage disease I caused by mutation in SLC37A4					This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i						UMLS:C2931345|HGNC:4061|MESH:C536831|GARD:0002501														https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency				owl:Class
HGNC:4061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020860	biolink:NamedThing	faucial diphtheria	Infection of the fauces by Corynebacterium diphtheriae.	mondoexuq1wtf	Faucial Diphtheria|Faucial diphtheria|faucial diphtheria|diphtheritic membranous angina|diphtheritic membrane|Diphtheritic membrane|Diphtheritic membranous angina											NCIT:C34545|UMLS:C0012556|SCTID:3419005|ICD9:032.0																		owl:Class
HGNC:22923	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014225	biolink:NamedThing	hemochromatosis type 5	Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.	mondoexuq1wtf	hereditary hemochromatosis caused by mutation in FTH1|FTH1-associated iron overload|FTH1 hereditary hemochromatosis|FTH1-related iron overload|hemochromatosis, type 5|HFE5|iron overload, autosomal dominant					Editor notes: ORDO treats this as two diseases						DOID:0111031|UMLS:C1851316|Orphanet:447792|MESH:C565020|OMIM:615517|UMLS:CN237708|Orphanet:247790|ICD10:E83.1|UMLS:CN181217																		owl:Class
HGNC:3581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10936	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007049	biolink:NamedThing	acroleukopathy, symmetric		mondoexuq1wtf	acroleukopathy, symmetric											OMIM:102000|UMLS:C1863342|MESH:C566322																		owl:Class
MONDO:0006925	biolink:NamedThing	Fusobacteriaceae infectious disease	Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.	mondoexuq1wtf	Fusobacteriaceae caused disease or disorder|infections, Fusobacteriaceae|Fusobacteriaceae infection|infection, Fusobacteriaceae|Fusobacteriaceae disease or disorder											UMLS:C1258222|EFO:1001126|MESH:D045825																		owl:Class
NCBITaxon:203492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2972	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030862	biolink:NamedThing	COACH syndrome 3		mondoexuq1wtf	COACH3											OMIM:619113																		owl:Class
HGNC:9325	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013197	biolink:NamedThing	hypertrophic cardiomyopathy 14	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	mondoexuq1wtf	MYH6 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYH6|CMH14|cardiomyopathy familial hypertrophic 14|cardiomyopathy, familial hypertrophic, 14|cardiomyopathy, familial hypertrophic, type 14|hypertrophic cardiomyopathy type 14											UMLS:C2750467|DOID:0110320|OMIM:613251|MESH:C567684																		owl:Class
HGNC:7576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005688	biolink:NamedThing	campylobacteriosis	Infections with bacteria of the genus campylobacter.	mondoexuq1wtf												SCTID:86500004|UMLS:C0006818|DOID:13622|EFO:0007190|MESH:D002169																		owl:Class
NCBITaxon:194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031375	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16700	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014580	biolink:NamedThing	intellectual disability, autosomal dominant 33	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.	mondoexuq1wtf	DPP6 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 33|intellectual disability, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability 33|MRD33|autosomal dominant intellectual disability 33|mental retardation, autosomal dominant 33|mental retardation, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|autosomal dominant mental retardation 33											OMIM:616311|DOID:0070063																		owl:Class
HGNC:3010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014280	biolink:NamedThing	immunodeficiency 19	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.	mondoexuq1wtf	CD3D severe combined immunodeficiency (disease)|immunodeficiency type 19|CD3delta deficiency|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency 19|severe combined immunodeficiency (disease) caused by mutation in CD3D|IMD19|CD3-Delta deficiency|CD3D|SCID, T cell-negative, B cell-positive, NK cell-positive											UMLS:C3810147|OMIM:615617|DOID:0060016																		owl:Class
HGNC:1673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000622	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2395	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014933	biolink:NamedThing	developmental and epileptic encephalopathy, 44	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 44|UBA5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 44; EIEE44|epileptic encephalopathy, early infantile, type 44|DEE44|EIEE44|early infantile epileptic encephalopathy caused by mutation in UBA5											OMIM:617132|UMLS:C4310700|DOID:0080424																		owl:Class
HGNC:23230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004972	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1142	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044347	biolink:NamedThing	erythrocyte disease	A disease or disorder that involves the erythrocyte.	mondoexuq1wtf	erythrocyte disease|disease or disorder of erythrocyte|disorder of erythrocyte|red blood cell disease|disease of erythrocyte|erythrocyte disease or disorder|red blood cell disorder											SCTID:38292009|UMLS:C0221016|ICD9:289.9																		owl:Class
CL:0000232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013255	biolink:NamedThing	arthrogryposis, renal dysfunction, and cholestasis 2	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.	mondoexuq1wtf	arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|arthrogryposis, renal dysfunction, and cholestasis type 2|ARCS2|arthrogryposis, renal dysfunction, and cholestasis 2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome											UMLS:C3150672|DOID:0111354|OMIM:613404																		owl:Class
HGNC:20347	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012833	biolink:NamedThing	Crouzon syndrome-acanthosis nigricans syndrome	Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).	mondoexuq1wtf	Crouzonodermoskeletal syndrome|chronic allograft nephropathy|Crouzon-dermoskeletal syndrome|CAN|can|Chronic kidney allograft nephropathy|Crouzon syndrome with acanthosis nigricans											NCIT:C38145|SCTID:702361006|MESH:C567382|OMIM:612247|DOID:0111161|Orphanet:93262|ICD10:Q75.1																		owl:Class
UBERON:0000974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014534	biolink:NamedThing	lissencephaly 6 with microcephaly	Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.	mondoexuq1wtf	LIS6|microlissencephaly caused by mutation in KATNB1|Microlissencephaly caused by mutation in KATNB1|KATNB1 microlissencephaly|KATNB1 Microlissencephaly|lissencephaly 6 with microcephaly											OMIM:616212																		owl:Class
HGNC:6217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005980	biolink:NamedThing	tick infestation	Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.	mondoexuq1wtf	Ixodoidea infectious disease|Ixodoidea caused disease or disorder|Ixodoidea disease or disorder											MESH:D013984|UMLS:C0040196|DOID:4109|EFO:0007508																		owl:Class
NCBITaxon:297308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0046655	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021643	biolink:NamedThing	mesenteric varices	A varicose disease that involves the mesentery.	mondoexuq1wtf	varicose disease of mesentery|mesentery varicose disease											HP:0002626|SCTID:22949006																		owl:Class
UBERON:0002095	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014853	biolink:NamedThing	autosomal dominant nonsyndromic deafness 70	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.	mondoexuq1wtf	autosomal dominant deafness 70|autosomal dominant nonsyndromic deafness type 70|deafness, autosomal dominant type 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|DFNA70|deafness, autosomal dominant 70|MCM2 autosomal dominant nonsyndromic deafness											DOID:0110592|UMLS:C4310775|ICD10:H90.3|OMIM:616968																		owl:Class
HGNC:6944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015176	biolink:NamedThing	undetermined colitis	Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.	mondoexuq1wtf												ICD10:K52.3|Orphanet:103920																		owl:Class
MONDO:0044796	biolink:NamedThing	spindle cell nevus	A nevus characterized by the presence of spindle-shaped melanocytes.	mondoexuq1wtf	spindle cell nevus											NCIT:C66758|SCTID:253038006																		owl:Class
NCIT:C36869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014845	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 22	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.	mondoexuq1wtf	spinocerebellar ataxia, autosomal recessive type 22|SCAR22|spinocerebellar ataxia, autosomal recessive 22|VWA3B autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in VWA3B|spinocerebellar ataxia, autosomal recessive 22; SCAR22											DOID:0111614|UMLS:C4310781|OMIM:616948																		owl:Class
HGNC:28385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009501	biolink:NamedThing	metabolic myopathy due to lactate transporter defect	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	mondoexuq1wtf	lactate transporter defect, myopathy due to|erythrocyte lactate transporter defect											OMIM:245340|ICD10:G72.8|Orphanet:171690|MESH:C565449|UMLS:C1855577|SCTID:766715000																		owl:Class
HGNC:10922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014192	biolink:NamedThing	primary ciliary dyskinesia 22	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.	mondoexuq1wtf	ZMYND10 primary ciliary dyskinesia|primary ciliary dyskinesia 22 with or without situs inversus|ciliary dyskinesia, primary, 22|ciliary dyskinesia, primary, type 22|ciliary dyskinesia, primary, 22, with or without situs inversus|primary ciliary dyskinesia type 22|primary ciliary dyskinesia caused by mutation in ZMYND10|CILD22											UMLS:C3809543|OMIM:615444|DOID:0110597|ICD10:Q34.8																		owl:Class
HGNC:19412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:810	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0027407	biolink:NamedThing	Kleefstra syndrome 1	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.	mondoexuq1wtf	chromosome 9q34.3 deletion syndrome|KLEFS1|Kleefstra syndrome|Kleefstra syndrome 1|9q-syndrome											UMLS:C0795833|NCIT:C129976|OMIM:610253|SCTID:724207001|DOID:0070075|MESH:C563043																		owl:Class
HGNC:24650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000299	biolink:NamedThing	thelaziasis	A disease caused by infection with Thelazia.	mondoexuq1wtf	infection by Thelazia|thelaziasis|infection caused by Thelazia|conjunctival spirurosis|Thelazia infectious disease|thelaziosis|verminous ophthalmia|Thelazia caused disease or disorder|Thelazia disease or disorder											UMLS:C0344058|ICD9:128.8|DOID:0050261|SCTID:46477004																		owl:Class
NCBITaxon:103826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100658	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009415	biolink:NamedThing	hypoglycemia, leucine-induced		mondoexuq1wtf	hypoglycemia leucine induced|hypoglycemia leucine-induced|LIH|familial infantile hypoglycemia precipitated by leucine|hypoglycemia, leucine-induced|leucine-sensitive hypoglycemia of infancy											SCTID:62151007|MESH:C537150|OMIM:240800|UMLS:C0271714|EFO:0006856|GARD:0009915																		owl:Class
MONDO:0014993	biolink:NamedThing	myofibrillar myopathy 8	Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.	mondoexuq1wtf	MFM8|myopathy, myofibrillar, type 8|myofibrillar myopathy (disease) caused by mutation in PYROXD1|PYROXD1 myofibrillar myopathy (disease)|myopathy, myofibrillar, 8											DOID:0080308|OMIM:617258|UMLS:C4310645																		owl:Class
HGNC:26162	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008057	biolink:NamedThing	Carney complex, type 1	Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.	mondoexuq1wtf	myxoma, spotty pigmentation, and endocrine overactivity|Carney Myxoma-endocrine Complex|Carney complex caused by mutation in PRKAR1A|Carney complex, type 1|PRKAR1A Carney complex|name syndrome|Carney syndrome|lamb syndrome|CNC1											OMIM:160980																		owl:Class
UBERON:0001450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014014	biolink:NamedThing	epidermolysis bullosa simplex due to exophilin 5 deficiency		mondoexuq1wtf	EBNS|EBS-AR exophilin 5|epidermolysis bullosa, nonspecific, autosomal recessive											ICD10:Q81.0|OMIM:615028|UMLS:C3554367|Orphanet:412189																		owl:Class
HGNC:30578	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008757	biolink:NamedThing	alopecia universalis congenita	The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.	mondoexuq1wtf	alopecia universalis congenita|ALUNC|alopecia areata universalis|alopecia universalis|AU|atrichia, generalized											OMIM:203655|MedDRA:10001767|SCTID:86166000|DOID:0050634|GARD:0000614|ICD10:L63.1|Orphanet:701|ICD9:704.09|UMLS:C0263505|MESH:C537055																		owl:Class
HGNC:5172	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004361	biolink:NamedThing	adult spinal cord ependymoma	An ependymoma of the spinal cord occurring in adults.	mondoexuq1wtf	spinal cord ependymoma|adult spinal cord ependymoma|spinal cord ependymoma of adults											NCIT:C27399|UMLS:C1332215|DOID:7788																		owl:Class
MONDO:0011299	biolink:NamedThing	Huntington disease-like 1	Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.	mondoexuq1wtf	neurodegenerative disease with chorea caused by mutation in PRNP|Huntington's disease-like 1|Huntington-like neurodegenerative disorder 1|HLN1|Huntington disease-like 1|PRNP neurodegenerative disease with chorea|Huntington-like neurodegenerative disorder, autosomal dominant|Huntington disease-like type 1|early-onset prion disease with prominent psychiatric features|HDL1|prion disease, early-onset, with prominent psychiatric features|autosomal dominant Huntington-like neurodegenerative disorder											Orphanet:157941|UMLS:C1864112|OMIM:603218|DOID:0090103|ICD10:G10|MESH:C566398																		owl:Class
HGNC:9449	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014939	biolink:NamedThing	congenital myasthenic syndrome 20	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.	mondoexuq1wtf	myasthenic syndrome, congenital, 20, presynaptic|congenital myasthenic syndrome type 20|CMS20|SLC5A7 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in SLC5A7|congenital myasthenic syndrome 20 presynaptic											OMIM:617143|DOID:0110661|UMLS:C4310694																		owl:Class
HGNC:14025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014209	biolink:NamedThing	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.	mondoexuq1wtf	neurodegeneration with optic atrophy, childhood-onset|NDGOA|SPG79|spastic paraplegia 79, autosomal recessive											ICD10:G31.8|OMIM:615491|Orphanet:352654|UMLS:C3809665																		owl:Class
HGNC:12513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2567	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009441	biolink:NamedThing	autosomal recessive congenital ichthyosis 1	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.	mondoexuq1wtf	ichthyosis, congenital, autosomal recessive 1|ichthyosis lamellar 1|lamellar exfoliation of newborn|ichthyosis congenita|ichthyosis, congenital, autosomal recessive type 1|collodion fetus|bathing suit ichthyosis|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ARCI1|collodion baby, self-healing|lamellar ichthyosis, type 1|ichthyosis, lamellar, 1, formerly|LI1|desquamation of newborn|ichthyosis, lamellar, 1|autosomal recessive congenital ichthyosis type 1|ichthyosis congenita 2											UMLS:C3536797|MESH:D017490|GARD:0003170|DOID:0060656|ICD10:Q80.2|OMIM:242300														https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1				owl:Class
HGNC:11777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022654	biolink:NamedThing	cardiomyopathy hypogonadism collagenoma syndrome		mondoexuq1wtf	cardiomyopathy-hypogonadism-collagenoma syndrome											MESH:C535582																		owl:Class
HGNC:11037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007024	biolink:NamedThing	Yersinia pseudotuberculosis infectious disease	Infections with bacteria of the species yersinia pseudotuberculosis.	mondoexuq1wtf	Pseudotuberculoses, Pasteurella|pseudotuberculosis|pseudotuberculosis, Pasteurella|infection by Yersinia pseudotuberculosis|Pasteurella pseudotuberculosis|infections, Yersinia pseudotuberculosis|infection by Pasteurella pseudotuberculosis|Pasteurella Pseudotuberculoses											MESH:D015012|SCTID:36753006|UMLS:C0043410|EFO:1001246																		owl:Class
NCBITaxon:633	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013303	biolink:NamedThing	autoimmune disease, susceptibility to, 6	Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.	mondoexuq1wtf	susceptibility to autoimmune disease 6|autoimmune disease, susceptibility to, 6|AIS6|SIAE autoimmune disease|autoimmune disease, susceptibility to, type 6|autoimmune disease caused by mutation in SIAE											OMIM:613551																		owl:Class
HGNC:18187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17272	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018244	biolink:NamedThing	obesity due to SIM1 deficiency		mondoexuq1wtf												ICD10:E66.8|Orphanet:369873																		owl:Class
HGNC:10882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:149546	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009614	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia type cblB	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.	mondoexuq1wtf	methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic acidemia cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic acidemia, cblB type|vitamin B12-responsive methylmalonic acidemia type cblB|methylmalonic aciduria cblB type|methylmalonic aciduria, cblB type											GARD:0009479|DOID:0060743|Orphanet:79311|UMLS:C1855102|OMIM:251110|NCIT:C142172|ICD10:E71.1																		owl:Class
HGNC:19331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054637	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair 1		mondoexuq1wtf	NSLH|Noonan syndrome-like disorder with loose anagen hair 1|Tosti syndrome|NSLH1											OMIM:607721																		owl:Class
HGNC:15454	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001322	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016482	biolink:NamedThing	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11		mondoexuq1wtf	UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11											UMLS:CN201477|Orphanet:231147|ICD10:Q87.1																		owl:Class
OBO:CHR_9606-chr11	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:443	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011112	biolink:NamedThing	Wilms tumor 5	Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.	mondoexuq1wtf	Wilms tumor and radial bilateral aplasia|Wilms tumor 5|Wilms tumor, susceptibility to|Wilms tumor type 5|bilateral radial aplasia with Wilms tumor|WT5											OMIM:601583|MESH:C536707|GARD:0005578																		owl:Class
HGNC:21694	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002329	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009109	biolink:NamedThing	lysinuric protein intolerance	Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.	mondoexuq1wtf	hyperdibasic aminoaciduria type 2|dibasic amino aciduria 2|lysinuric PROTEIN intolerance|lysinuric protein intolerance|hyperdibasic aminoaciduria|dibasic amino aciduria II|Dibasicamino aciduria II|LPI|dibasic aminoaciduria 2											Orphanet:470|NCIT:C121563|OMIM:222700|DOID:0060439|UMLS:C0268647|GARD:0003335|SCTID:303852004|MedDRA:10058300|GARD:0001853|MESH:C562687|ICD9:270.8|ICD10:E72.0														https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance|https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2				owl:Class
HGNC:11065	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007454	biolink:NamedThing	type 1 diabetes mellitus 2	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 2|IDDM2|insulin-dependent diabetes mellitus 2|type 1 diabetes mellitus caused by mutation in INS|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2											UMLS:C1852092|OMIM:125852|ICD10:E10|DOID:0110741|MESH:C565100																		owl:Class
HGNC:6081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10593	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chrX	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007080	biolink:NamedThing	glucocorticoid-remediable aldosteronism	Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.	mondoexuq1wtf	glucocorticoid sensitive hypertension|FH1|dexamethasone-sensitive hypertension|hyperaldosteronism, familial, type 1|hyperaldosteronism, familial type 1|hyperaldosteronism, familial, type I|glucocorticoid-remediable aldosteronism|FH-I|ACTH-dependent hyperaldosteronism syndrome|glucocorticoid-suppressible hyperaldosteronism|GRA|HALD1|familial hyperaldosteronism type 1|glucocorticoid-sensitive hypertension|dexamethasone sensitive hypertension|FH 1|aldosteronism, sensitive to dexamethasone|familial hyperaldosteronism type I											MESH:C563177|ICD9:255.11|UMLS:C3838731|ICD10:E26.0|Orphanet:403|OMIM:103900|DOID:14080|UMLS:C1260386|ICD10:E26.02|GARD:0002790														https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism				owl:Class
HGNC:2591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9580	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033262	biolink:NamedThing	nephrotic syndrome 15		mondoexuq1wtf	NPHS15|nephrotic syndrome 15|nephrotic syndrome, type 15											OMIM:617609|UMLS:CN388854|DOID:0080271																		owl:Class
HGNC:18957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009874	biolink:NamedThing	Rabson-Mendenhall syndrome	Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).	mondoexuq1wtf	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Mendenhall syndrome|Rabson-Mendenhall syndrome											OMIM:262190|Orphanet:769|UMLS:C0271695|GARD:0000226|SCTID:33559001|NCIT:C131000|ICD10:E13|ICD9:259.8														https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome				owl:Class
HGNC:6091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012900	biolink:NamedThing	cardiomyopathy, familial restrictive, 3	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	mondoexuq1wtf	RCM3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial restrictive, 3|TNNT2 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, type 3											OMIM:612422|DOID:0111427|MESH:C567316|UMLS:C2676271																		owl:Class
MONDO:0013912	biolink:NamedThing	hypogonadotropic hypogonadism 10 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.	mondoexuq1wtf	TAC3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 10 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TAC3|HH10											DOID:0090089|ICD10:E23.0|UMLS:C3553843|OMIM:614839																		owl:Class
HGNC:11521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014494	biolink:NamedThing	psoriasis 15, pustular, susceptibility to	Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.	mondoexuq1wtf	psoriasis 15, pustular, susceptibility to|AP1S3 generalized pustular psoriasis|generalized pustular psoriasis caused by mutation in AP1S3|PSORS15|susceptibility to pustular psoriasis 15											OMIM:616106|DOID:0111281																		owl:Class
HGNC:18971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002544	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002795	biolink:NamedThing	adult central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in adults.	mondoexuq1wtf	adult central nervous system primitive neuroectodermal tumor|adult CNS PNET|adult CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of adults|adult CNS primitive neuroectodermal neoplasm|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal neoplasm											UMLS:C1332196|DOID:3865|NCIT:C5411																		owl:Class
MONDO:0017860	biolink:NamedThing	methanol poisoning	Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).	mondoexuq1wtf												ICD10:T51.1|UMLS:CN203895|Orphanet:31825																		owl:Class
CHEBI:17790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700005	biolink:NamedThing	idiopathic	A disease characteristic in which the disease has an uncertain or unknown cause.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
HP:0001824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013465	biolink:NamedThing	achromatopsia 4	Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.	mondoexuq1wtf	achromatopsia 4|ACHM4|GNAT2 achromatopsia|achromatopsia type 4|achromatopsia caused by mutation in GNAT2											UMLS:C1841721|DOID:0110010|MESH:C564206|OMIM:613856																		owl:Class
HGNC:4394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014587	biolink:NamedThing	congenital myasthenic syndrome 9	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.	mondoexuq1wtf	MUSK congenital myasthenic syndrome|CMS9|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 9|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome caused by mutation in MUSK											UMLS:C4225368|DOID:0110670|OMIM:616325																		owl:Class
MONDO:0005185	biolink:NamedThing	chronic childhood arthritis	An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.	mondoexuq1wtf	JRA|Juvenile rheumatoid arthritis (AQ)|Juvenile rheumatoid arthritis					This class is scheduled for obsoletion						Wikipedia:Juvenile_idiopathic_arthritis|EFO:0002609|NCIT:C27179|SCTID:410793008																		owl:Class
HP:0001370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23338	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010494	biolink:NamedThing	linear skin defects with multiple congenital anomalies 3	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.	mondoexuq1wtf	microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|linear skin defects with multiple congenital anomalies type 3|NDUFB11 microphthalmia with linear skin defects syndrome|linear skin defects with multiple congenital anomalies 3|LSDMCA3|linear skin defects with cardiomyopathy and Other congenital anomalies											UMLS:C4225421|OMIM:300952																		owl:Class
HGNC:20372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032610	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 5		mondoexuq1wtf	MC1DN5|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5											OMIM:618226																		owl:Class
HGNC:7707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015806	biolink:NamedThing	adult intestinal botulism	A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.	mondoexuq1wtf	adult intestinal toxin-mediated botulism|infant-like botulism|intestinal botulism of adults|adult intestinal colonization botulism|adult intestinal toxemia botulism											Orphanet:178487|NCIT:C128344|ICD10:A05.1|UMLS:C4289991																		owl:Class
HGNC:3498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3437	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013487	biolink:NamedThing	recurrent Neisseria infections due to factor D deficiency		mondoexuq1wtf	complement factor D deficiency|factor D deficiency|CFDD											Orphanet:169467|UMLS:C0398764|ICD9:279.8|SCTID:234607008|MESH:C565027|ICD10:D84.1|OMIM:613912																		owl:Class
HGNC:2771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014823	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	mondoexuq1wtf	TBCK-related intellectual disability syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3|hypotonia, infantile, with psychomotor retardation and characteristic facies 3|IHPRF3											UMLS:C4225161|OMIM:616900|Orphanet:488632																		owl:Class
HGNC:28261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002413	biolink:NamedThing	glycogen storage disease I	Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	mondoexuq1wtf	deficiency of glucose-6-phosphatase|glycogenosis type I|von Gierke disease|GSD due to G6P deficiency|G6P deficiency|GSD1|glycogenosis type 1|glycogen storage disease type I|glycogen storage disease, type I|von Gierke's disease|glycogen storage disease due to glucose-6-phosphatase deficiency|GSD type 1|hepatorenal glycogenosis|glycogen storage disease type 1|GSD type I|glycogen storage disease due to G6P deficiency										MONDO:0018220	DOID:2749|MESH:D005953|ICD10:E74.01|MedDRA:10018464|Orphanet:364|NCIT:C84733|ICD10:E74.0|SCTID:7265005																		owl:Class
GO:0004346	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014195	biolink:NamedThing	microcornea-myopic chorioretinal atrophy		mondoexuq1wtf	microcornea-myopic chorioretinal atrophy-telecanthus syndrome|MMCAT syndrome|MMCAT|microcornea, myopic chorioretinal atrophy, and telecanthus											UMLS:C3809567|ICD10:Q15.8|Orphanet:369970|OMIM:615458																		owl:Class
HGNC:17110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010816	biolink:NamedThing	Qazi Markouizos syndrome	Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	mondoexuq1wtf	Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|Dysharmonic skeletal maturation muscular fibre disproportion|Puertorican infant hypotonia syndrome|Qazi-Markouizos syndrome|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion											OMIM:600096|MESH:C536259|DOID:0050740|ICD10:Q87.8|SCTID:721887007|GARD:0000371|Orphanet:3010|UMLS:C2931142														https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome				owl:Class
HGNC:16262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013421	biolink:NamedThing	type II complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.	mondoexuq1wtf	complement component 8B deficiency|complement component 8 deficiency, type 2|C8B classic complement early component deficiency|classic complement early component deficiency caused by mutation in C8B|C8D2|complement component 8 deficiency, type II|C8 deficiency, type 2|C8 deficiency type II|complement component 8 deficiency type 2|C8B deficiency|Human complement C8-beta deficiency|C8 Beta deficiency|complement component 8 deficiency type II											OMIM:613789|DOID:0060302|ICD10:D84.1|GARD:0010625|HGNC:1353|UMLS:C3151080														https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2				owl:Class
HGNC:1353	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013565	biolink:NamedThing	Fanconi anemia complementation group G	Fanconi anemia caused by mutations of the FANCG gene.	mondoexuq1wtf	Fanconi Anemia, complementation group type G|Fanconi anemia, complementation group G|Fanconi anemia complementation group type G|FANCG											OMIM:614082|DOID:0111086|NCIT:C125708|EFO:0009046																		owl:Class
HGNC:3588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002134	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0016525	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014108	biolink:NamedThing	Fanconi anemia complementation group Q	Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.	mondoexuq1wtf	Fanconi anemia caused by mutation in ERCC4|ERCC4 Fanconi anemia|Fanconi anemia complementation group type Q|Fanconi anemia, complementation group Q|Fanconi Anemia, complementation group type Q|FANCQ											DOID:0111093|UMLS:C3808988|OMIM:615272																		owl:Class
MONDO:0043523	biolink:NamedThing	cadmium poisoning	Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.	mondoexuq1wtf	Itai Itai|cadmium Poisonings|cadmium poisoning|Itai-Itai|Poisonings, cadmium|poisoning, cadmium											SCTID:3398004|MESH:D002105																		owl:Class
ECTO:0001566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010350	biolink:NamedThing	premature ovarian failure 2A	Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.	mondoexuq1wtf	DIAPH2 primary ovarian failure|premature ovarian failure 2A|premature ovarian failure type 2A|POF2A|primary ovarian failure caused by mutation in DIAPH2											UMLS:C1845293|OMIM:300511|MESH:C564498																		owl:Class
HGNC:2877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000058	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000516	biolink:NamedThing	phalanx chondroma	A chondroma that involves the phalanx.	mondoexuq1wtf	phalanx chondroma											DOID:0050898																		owl:Class
UBERON:0003221	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010870	biolink:NamedThing	tibial muscular dystrophy	Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.	mondoexuq1wtf	Udd myopathy|distal myopathy, Udd type|Udd type distal myopathy|tibial muscular dystrophy, tardive|tardive tibial muscular dystrophy|TMD|distal titinopathy|Tmd|Finnish tibial muscular dystrophy											UMLS:C1838244|DOID:0111078|UMLS:C1450052|OMIM:600334|ICD10:G71.0|Orphanet:609|SCTID:698846009																		owl:Class
HGNC:12403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013115	biolink:NamedThing	RIN2 syndrome	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	mondoexuq1wtf	tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|RIN2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|macrocephaly, alopecia, cutis laxa, and scoliosis|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|MACS syndrome											MESH:C567770|ICD10:Q82.8|Orphanet:217335|SCTID:723367005|OMIM:613075|UMLS:C2751321																		owl:Class
HGNC:18750	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022380	biolink:NamedThing	acute lymphoblastic leukemia congenital sporadic aniridia	A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.	mondoexuq1wtf												GARD:0000523														https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia				owl:Class
CL:0000542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4814	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018109	biolink:NamedThing	fulminant viral hepatitis	Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.	mondoexuq1wtf												Orphanet:35063|ICD10:K72																		owl:Class
MONDO:0013995	biolink:NamedThing	cholestasis, intrahepatic, of pregnancy 3		mondoexuq1wtf	cholestasis, intrahepatic, of pregnancy 3|ICP3|cholestasis, intrahepatic, of pregnancy type 3											OMIM:614972|DOID:0070229|UMLS:C3554241|EFO:0009150																		owl:Class
HGNC:45	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7178	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002970	biolink:NamedThing	ciliary body disease	A disease involving the ciliary body.	mondoexuq1wtf	disease or disorder of ciliary body|ciliary body disease|disorder of ciliary body|ciliary body disease or disorder|disease of ciliary body|ciliary body disorder											UMLS:C0271100|DOID:4353|SCTID:68575007|COHD:442770|NCIT:C35775																		owl:Class
UBERON:0001775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014278	biolink:NamedThing	immunodeficiency 18	Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.	mondoexuq1wtf	CD3-Epsilon deficiency|immunodeficiency 18, SCID variant|immunodeficiency 18, Severe combined immunodeficiency variant|IMD18|immunodeficiency 18|immunodeficiency type 18											OMIM:615615|UMLS:C3810127|DOID:0060017																		owl:Class
HGNC:1674	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011308	biolink:NamedThing	gracile syndrome	GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).	mondoexuq1wtf	Finnish lactic acidosis with hepatic hemosiderosis|Fellman disease|gracile syndrome|FLNMS|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Fellman syndrome|lactic acidosis, Finnish, with hepatic hemosiderosis|Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Finnish lethal neonatal metabolic syndrome|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome											SCTID:703388005|Orphanet:53693|ICD10:E88.8|GARD:0000001|UMLS:C1864002|OMIM:603358|ICD9:759.89|DOID:0111455|MESH:C537934																		owl:Class
HGNC:1020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014160	biolink:NamedThing	TCR-alpha-beta-positive T-cell deficiency	A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.	mondoexuq1wtf	immunodeficiency 7|TCR-alpha-beta+ T-cell deficiency|immunodeficiency 7, TCR-alpha/beta deficient|IMD7|TCR-Alpha/Beta deficiency|T-cell receptor-ALPHA/BETA deficiency											Orphanet:397959|UMLS:C3809332|OMIM:615387|ICD10:D84.8|DOID:0111977																		owl:Class
HGNC:12029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12721	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:46195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000944	biolink:NamedThing	cerebral artery occlusion		mondoexuq1wtf												ICD9:434.91|COHD:372924|DOID:10127|SCTID:20059004|ICD9:434|ICD9:434.90|ICD9:434.9																		owl:Class
UBERON:0004449	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016148	biolink:NamedThing	qualitative or quantitative defects of collagen 6		mondoexuq1wtf	qualitative or quantitative defects of collagen type 6											Orphanet:207090														https://github.com/monarch-initiative/mondo/issues/3573				owl:Class
GO:0005589	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009359	biolink:NamedThing	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome		mondoexuq1wtf	hydranencephaly with renal aplasia-dysplasia|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly|MARCH|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly											UMLS:C1856053|MESH:C565507|OMIM:236500|DOID:0080327|Orphanet:500135																		owl:Class
HGNC:1161	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013092	biolink:NamedThing	glioma susceptibility 2	Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.	mondoexuq1wtf	PTEN malignant glioma|glioma susceptibility type 2|malignant glioma caused by mutation in PTEN|GLM2|glioma susceptibility 2											OMIM:613028																		owl:Class
GO:0001755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013827	biolink:NamedThing	hyperekplexia 3	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.	mondoexuq1wtf	HKPX3|hyperekplexia 3|hyperekplexia type 3|hereditary hyperekplexia caused by mutation in SLC6A5|SLC6A5 hereditary hyperekplexia											ICD10:G25.8|UMLS:C3553288|OMIM:614618|DOID:0060698																		owl:Class
HGNC:11051	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0002096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009554	biolink:NamedThing	3MC syndrome 3	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.	mondoexuq1wtf	3MC3|3MC syndrome type 3|Malpuech Facial clefting syndrome|facial clefting syndrome, Gypsy type|3Mc syndrome type 3|COLEC10 3MC syndrome|3MC syndrome 3|Malpuech Facial clefting syndrome, formerly|3MC syndrome caused by mutation in COLEC10											UMLS:C0796032|MESH:C535704|Orphanet:2453|DOID:0060577|OMIM:248340																		owl:Class
HGNC:2220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005682	biolink:NamedThing	bronchopneumonia	Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.	mondoexuq1wtf	bronchial pneumonia|chest infection - bronchopneumonia|chest infection - unspecified bronchopneumonia|lobular pneumonia											NCIT:C26710|COHD:256722|SCTID:396285007|DOID:12375|ICD10:J18.0|MESH:D001996|ICD9:485|EFO:0007184|UMLS:C0006285																		owl:Class
HP:0000668	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007281	biolink:NamedThing	cataract 4 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.	mondoexuq1wtf	cataract, crystalline aculeiform|CRYGD cataract (disease)|cataract (disease) caused by mutation in CRYGD|cataract, congenital, cerulean type, 3|cataract 4, multiple types|CTRCT4|cataract 4 multiple types with or without microcornea|CCA3|cataract 4, multiple types, with or without microcornea|cataract, punctate, progressive juvenile-onset|congenital cataract cerulean type 3|cataract, Nonnuclear polymorphic congenital											ICD10:Q12.0|OMIM:115700|DOID:0110234																		owl:Class
HGNC:2411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001103	biolink:NamedThing	giardiasis	An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.	mondoexuq1wtf	Giardia infection|Lambliases|lambliasis|Giardia|Giardiases|infections, Giardia|beaver feaver|infection by Giardia lamblia											SCTID:10679007|MESH:D005873|DOID:10718|COHD:437202|ICD9:007.1|ICD10:A07.1|UMLS:C0017536																		owl:Class
NCBITaxon:5740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009009	biolink:NamedThing	hypoplasminogenemia	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.	mondoexuq1wtf	plasminogen deficiency type 1|plasminogen deficiency, type 2|type 1 plasminogen deficiency|plasminogen deficiency, type 1|plasminogen deficiency, type I|ligneous conjunctivitis|Dysplasminogenemia											ICD10:L90.5|UMLS:C0398621|SCTID:95840007|MESH:C580017|GARD:0004380|UMLS:C1968804|OMIM:217090|Orphanet:722																		owl:Class
HGNC:9071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014858	biolink:NamedThing	intellectual disability, autosomal dominant 43	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.	mondoexuq1wtf	autosomal dominant mental retardation 43|HIVEP2-related intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|mental retardation, autosomal dominant type 43|HIVEP2 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability 43|autosomal dominant intellectual disability-43|mental retardation, autosomal dominant 43|MRD43|intellectual disability, autosomal dominant 43|intellectual disability, autosomal dominant type 43|autosomal dominant intellectual disability 43											GARD:0013179|OMIM:616977|UMLS:C4310771|SCTID:765434008|DOID:0070073																		owl:Class
HGNC:4921	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014347	biolink:NamedThing	short stature with microcephaly and distinctive facies		mondoexuq1wtf	short stature with microcephaly and distinctive facies											UMLS:C4014339|OMIM:615789																		owl:Class
HGNC:14312	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008614	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1838	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002384	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019246	biolink:NamedThing	inborn disorder of lysosomal amino acid transport		mondoexuq1wtf	disorder of lysosomal amino acid transport											UMLS:CN227605|Orphanet:79207																		owl:Class
GO:0007041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022643	biolink:NamedThing	carcinoma of the vocal tract	A carcinoma that involves the laryngeal vocal fold.	mondoexuq1wtf	carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma											GARD:0005996																		owl:Class
MONDO:0013884	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.	mondoexuq1wtf	dHMN 5B|HMN5B|neuropathy, distal hereditary motor, type 5B|neuronopathy, distal hereditary motor caused by mutation in REEP1|spinal muscular atrophy, distal, type 5B|neuronopathy, distal hereditary motor, type VB|HMN 5B|REEP1 neuronopathy, distal hereditary motor											UMLS:C3553656|DOID:0111205|OMIM:614751																		owl:Class
HGNC:25786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009161	biolink:NamedThing	Ehlers-Danlos syndrome, dermatosparaxis type	A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.	mondoexuq1wtf	EDS 7C|Ehlers-Danlos syndrome, type VII, autosomal recessive|EDS VIIC|Ehlers-Danlos syndrome type 7C|EDSDERMS|Ehlers-Danlos syndrome type 7C (formerly)|EDS7C|dermatosparaxis|dermatosparaxis Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, dermatosparaxis type|dEDS|dermatosparaxis EDS											ICD10:Q79.6|SCTID:55711009|Orphanet:1901|MESH:C567527|GARD:0002089|OMIM:225410																		owl:Class
HGNC:218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:85004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008449	biolink:NamedThing	spina bifida	A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.	mondoexuq1wtf	spinal meningocele|spina bifida|rachischisis|spinal myelocele|NTD|neural tube defects, susceptibility to|spinal myelomeningocele|spina bifida (disease)		spina bifida (disease)									SCTID:67531005|EFO:0003105|MESH:D016135|NCIT:C101214|ICD9:741|HP:0002414|DOID:0080016|COHD:4283381																		owl:Class
MONDO:0001147	biolink:NamedThing	meningocele	A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.	mondoexuq1wtf	meningocele (disease)|spinal meningocele|central nervous system meningocele|meningocele		meningocele (disease)									NCIT:C105595|GARD:0003471|NCIT:C101209|HP:0002435|DOID:1088|SCTID:171131006|Orphanet:93968|MESH:D008588|UMLS:C0025299																		owl:Class
MONDO:0007841	biolink:NamedThing	coxopodopatellar syndrome	Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.	mondoexuq1wtf	small patella syndrome|ICPPS|Scott-Taor syndrome|patella aplasia, coxa vara, tarsal synostosis|SPS|ischiocoxopodopatellar syndrome|coxopodopatellar syndrome|ischiopatellar dysplasia|Coxo-podo-patellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis											UMLS:C1840061|ICD10:Q74.1|DOID:0111382|Orphanet:1509|GARD:0003030|OMIM:147891|SCTID:720752007|MESH:C535540																		owl:Class
HGNC:11603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:52564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012078	biolink:NamedThing	Joubert syndrome 3	Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.	mondoexuq1wtf	AHI1 Joubert syndrome|JBTS3|Joubert syndrome caused by mutation in AHI1|Joubert syndrome 3|Joubert syndrome type 3											NCIT:C148259|MESH:C536295|UMLS:C1837713|OMIM:608629|DOID:0110998																		owl:Class
HGNC:21575	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013103	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 10	Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene.	mondoexuq1wtf	EIG10|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|Gefsp5, susceptibility to|juvenile myoclonic epilepsy caused by mutation in GABRD|epilepsy, juvenile myoclonic, susceptibility to, 7|GABRD juvenile myoclonic epilepsy|epilepsy, idiopathic generalized, susceptibility to, 10|Gefs+5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, type 10|susceptibility to idiopathic generalized epilepsy 10|Gefs+, type 5, susceptibility to											DOID:0111292|OMIM:613060																		owl:Class
HGNC:4084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024564	biolink:NamedThing	cerebroretinal microangiopathy with calcifications and cysts 1	Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.	mondoexuq1wtf	CTC1 Coats plus syndrome|Coats plus syndrome caused by mutation in CTC1|Crmcc|Coats plus syndrome|CRMCC1|cerebroretinal microangiopathy with calcifications and cysts 1											OMIM:612199																		owl:Class
HGNC:26169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013337	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 1C	A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.	mondoexuq1wtf	neuropathy, hereditary sensory and autonomic, type IC|neuropathy, hereditary sensory, type 1C|hereditary sensory and autonomic neuropathy type IC|HSAN 1C|HSN 1C|hereditary sensory and autonomic neuropathy type 1C|HSAN1C											DOID:0070157|UMLS:C3150896|OMIM:613640																		owl:Class
HGNC:11278	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012865	biolink:NamedThing	Pseudofolliculitis barbae		mondoexuq1wtf	pili Incarnati|Pseudofolliculitis barbae|PFB|ingrown hairs											UMLS:C0549150|ICD10:L73.1|COHD:4160464|OMIM:612318|MESH:C563016																		owl:Class
HGNC:24431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017383	biolink:NamedThing	familial clubfoot due to PITX1 point mutation		mondoexuq1wtf	hereditary clubfoot due to PITX1 point mutation											UMLS:CN203110|Orphanet:293150|ICD10:Q66.8																		owl:Class
UBERON:0005989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021372	biolink:NamedThing	neoplasm of temporal lobe	A neoplasm (disease) that involves the temporal lobe.	mondoexuq1wtf	neoplasm of the temporal lobe|tumor of temporal lobe|tumor of the temporal lobe|neoplasm of temporal lobe|temporal lobe neoplasm (disease)|temporal lobe neoplasm|temporal lobe tumor											SCTID:126955002|UMLS:C1263887|NCIT:C5567																		owl:Class
UBERON:0001871	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012648	biolink:NamedThing	isobutyryl-CoA dehydrogenase deficiency	An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	mondoexuq1wtf	isobutyric aciduria|acyl-Coa dehydrogenase family, member 8, deficiency of|IBD deficiency|isobutyryl-CoA dehydrogenase deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|Acad8 deficiency											Orphanet:79159|NCIT:C129975|MESH:C535541|ICD10:E71.1|GARD:0010223|UMLS:C1969809|OMIM:611283														https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency|https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0020983	biolink:NamedThing	myocardial rupture	Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).	mondoexuq1wtf	Heart Ruptures|Myocardial Rupture|Cardiac Ruptures|Ventricular Free Wall Rupture|Cardiac Free Wall Rupture|Free Wall Rupture, Heart|Cardiac Rupture|Rupture of heart|Heart Rupture											UMLS:C0018813|GARD:0010468|MESH:D006341																		owl:Class
MONDO:0007662	biolink:NamedThing	anterior segment dysgenesis 4	Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.	mondoexuq1wtf	ASGD4|IRID2|iridogoniodysgenesis type 2|iridogoniodysgenesis, type 2|iridogoniodysgenesis syndrome|iris hypoplasia with early-onset glaucoma, autosomal dominant|PITX2 iridogoniodysgenesis|iridogoniodysgenesis caused by mutation in PITX2|anterior segment dysgenesis 4											UMLS:C1842031|DOID:0080609|GARD:0003026|OMIM:137600																		owl:Class
HGNC:9005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016093	biolink:NamedThing	borderline epithelial tumor of ovary	A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.	mondoexuq1wtf	borderline ovarian epithelial neoplasm|epithelial neoplasm of ovary of borderline malignancy|borderline ovarian surface epithelial-stromal tumor|ovarian borderline malignant tumor|epithelial tumor of ovary of borderline malignancy|borderline epithelial neoplasm of ovary|low malignant potential ovarian tumor|borderline epithelial tumor of ovary|borderline ovarian epithelial tumor|ovarian tumors of low malignant potential|epithelial tumor of the ovary of borderline malignancy|borderline epithelial neoplasm of the ovary|epithelial ovarian neoplasm of borderline malignancy|borderline epithelial tumor of the ovary|ovarian low malignant potential tumor|ovarian tumor of low malignant potential|epithelial neoplasm of the ovary of borderline malignancy|epithelial ovarian tumor of borderline malignancy|ovarian tum. of low malig. poten.											GARD:0009363|NCIT:C4783|UMLS:C3665489|ICD10:C56|SCTID:764791008|EFO:1000140|Orphanet:206473																		owl:Class
MONDO:0009852	biolink:NamedThing	congenital intrinsic factor deficiency	Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.	mondoexuq1wtf	congenital pernicious anemia|congenital pernicious anemia due to defect of intrinsic factor|hereditary intrinsic factor deficiency|intrinsic factor deficiency|intrinsic factor, congenital deficiency of|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|gastric intrinsic factor deficiency|IFD|pernicious Anemia, congenital, due to defect of intrinsic Factor											MESH:C563242|SCTID:34925000|MedDRA:10070440|Orphanet:332|GARD:0003024|DOID:0050734|ICD10:D51.0|ICD9:281.3|OMIM:261000																		owl:Class
HP:0001889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:50858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013713	biolink:NamedThing	dengue virus, susceptibility to		mondoexuq1wtf	Dengue hemorrhagic fever, susceptibility to|Dengue shock syndrome, susceptibility to|Dengue fever, protection against|dengue virus, susceptibility to|susceptibility to dengue virus|Dengue fever, susceptibility to											OMIM:614371																		owl:Class
MONDO:0014063	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 2	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.	mondoexuq1wtf	TTC19 mitochondrial complex III deficiency|MC3DN2|mitochondrial complex III deficiency caused by mutation in TTC19|mitochondrial Complex 3 deficiency, nuclear type 2|mitochondrial complex III deficiency, nuclear type 2											UMLS:C3554605|DOID:0060351|OMIM:615157																		owl:Class
HGNC:26006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016859	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.	mondoexuq1wtf	blepharophimosis-epicanthus inversus-ptosis due to a CNV|blepharophimosis types 1 and 2 due to copy number variations											UMLS:CN202202|Orphanet:261579|ICD10:Q10.3																		owl:Class
SO:0001019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000331	biolink:NamedThing	Rickettsia helvetica spotted fever	A disease caused by infection with Rickettsia helvetica.	mondoexuq1wtf	Rickettsia helvetica infectious disease|Rickettsia helvetica caused disease or disorder|Rickettsia helvetica aneruptive fever|aneruptive fever|Rickettsia helvetica disease or disorder											DOID:0050484																		owl:Class
NCBITaxon:35789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100096	biolink:NamedThing	COVID-19	A disease caused by infection with severe acute respiratory syndrome coronavirus 2.	mondoexuq1wtf	SARS-CoV-2|beta-CoV|β-CoVs|2019-nCoV infection|β-coronavirus|β-CoV|severe acute respiratory syndrome coronavirus 2|2019-nCoV|beta-CoVs|betacoronavirus|SARS-coronavirus 2|2019 novel coronavirus infection|coronavirus disease 2019|2019 novel coronavirus|severe acute respiratory syndrome coronavirus 2 infectious disease							http://orcid.org/0000-0001-5208-3432				ICD11:RA01.2|ICD10:U07.2|ICD11:RA01.0|MESH:C000657245|DOID:0080600|ICD10:U07.1|SCTID:840539006|MESH:D000086382																		owl:Class
MONDO:0006687	biolink:NamedThing	burning mouth syndrome	A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.	mondoexuq1wtf	Stomatopyrosis|oral dysesthesia|stomatodynia|Orodynia|BMS											EFO:1000850|MedDRA:10068065|NCIT:C62545|SCTID:399165002|ICD10:K14.6|UMLS:C0006430|Orphanet:353253|GARD:0005974|DOID:4331|MESH:D002054|UMLS:CN242089|UMLS:C2930806																		owl:Class
HGNC:5173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015706	biolink:NamedThing	mosaic trisomy 1		mondoexuq1wtf	trisomy 1 mosaicism|Mosaic trisomy type 1|Mosaic trisomy chromosome 1											Orphanet:1692|ICD10:Q92.1|UMLS:CN073987																		owl:Class
MONDO:0016434	biolink:NamedThing	acquired dermis elastic tissue disorder	An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired dermis elastic tissue disorder											UMLS:CN226927|Orphanet:228218																		owl:Class
MONDO:0015292	biolink:NamedThing	endotheliitis	An inflammatory disease involving a pathogenic inflammatory response in the endothelium.	mondoexuq1wtf	endothelium inflammation|inflammation of endothelium											Orphanet:137602																		owl:Class
UBERON:0001986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006685	biolink:NamedThing	brain hypoxia - ischemia	A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.	mondoexuq1wtf												MESH:D020925|EFO:1000846																		owl:Class
MONDO:0013426	biolink:NamedThing	aneurysm-osteoarthritis syndrome		mondoexuq1wtf	aneurysms-osteoarthritis syndrome|Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome type 3|aneurysm - osteoarthritis syndrome|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome, type 1C (formerly)|Loeys-Dietz syndrome with osteoarthritis|LDS3|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome, type 1C											Orphanet:284984|GARD:0010997|OMIM:613795|DOID:0070237|UMLS:C3151087																		owl:Class
HGNC:6769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020591	biolink:NamedThing	disease of peritoneum	A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	mondoexuq1wtf	peritoneum disease or disorder|disease or disorder of peritoneum|disease of peritoneum|peritoneal disorder|disorder of peritoneum|peritoneal disease|peritoneum disease											SCTID:66579008|UMLS:C0031142|MESH:D010532|NCIT:C26848																		owl:Class
UBERON:0002358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019303	biolink:NamedThing	premature aging syndrome	Changes in the organism associated with senescence, occurring at an accelerated rate.	mondoexuq1wtf	premature aging											MedDRA:10063493|Orphanet:79389|MESH:D019588																		owl:Class
MONDO:0007859	biolink:NamedThing	palmoplantar keratoderma i, striate, focal, or diffuse		mondoexuq1wtf	keratoderma, palmoplantar, striate form 1|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|PPKS1|palmoplantar keratoderma i, striate, focal, or diffuse|SPPK1|keratoderma, palmoplantar striate form 1|palmoplantar keratoderma I, striate, focal, or diffuse											GARD:0009172|MESH:C536162|OMIM:148700																		owl:Class
HGNC:3048	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0001082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016748	biolink:NamedThing	hemangioblastoma	Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.	mondoexuq1wtf	capillary hemangioblastoma|hemangioblastoma|HMBL|angioblastoma											ONCOTREE:HMBL|MedDRA:10018813|DOID:5241|MESH:D018325|Orphanet:252054|ICDO:9161/1|UMLS:C0206734|ICD10:D33.7|GARD:0008232|NCIT:C3801|ICD10:D33.4																		owl:Class
MONDO:0013575	biolink:NamedThing	plasma fibronectin deficiency		mondoexuq1wtf	plasma fibronectin deficiency											OMIM:614101																		owl:Class
HGNC:3778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002572	biolink:NamedThing	aspiration pneumonitis	Inflammation of the lungs due to the inhalation of solid or liquid material.	mondoexuq1wtf	chemical pneumonitis|aspiration pneumonia											ICD10:J69.0|UMLS:C1761609|SCTID:155597006|DOID:3240|NCIT:C34932																		owl:Class
HP:0100845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008438	biolink:NamedThing	hereditary spastic paraplegia 4	Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	mondoexuq1wtf	autosomal dominant spastic paraplegia type 4|FSP2|hereditary spastic paraplegia type 4|familial spastic paraplegia autosomal dominant 2|SPAST hereditary spastic paraplegia|familial spastic paraplegia, autosomal dominant, 2|spastic paraplegia 4, autosomal dominant|hereditary spastic paraplegia caused by mutation in SPAST|SPG4|spastic paraplegia 4|autosomal dominant spastic paraplegia 4											MESH:C536865|SCTID:723820001|DOID:0110792|ICD10:G11.4|UMLS:C1866855|Orphanet:100985|NCIT:C129981|OMIM:182601|GARD:0004925|UMLS:C4510079																		owl:Class
HGNC:11233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009213	biolink:NamedThing	Fanconi anemia complementation group C	Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.	mondoexuq1wtf	Fanconi Anemia, complementation group type C|Fanconi anemia complementation group type C|Fanconi pancytopenia type 3|Fanconi anemia, complementation group C|Fanconi pancytopenia, type 3|FANCC|FACC|facc|FA3											UMLS:C3468041|OMIM:227645|DOID:0111087|NCIT:C125704																		owl:Class
HGNC:3584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015718	biolink:NamedThing	mosaic trisomy 12	Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.	mondoexuq1wtf	Mosaic trisomy type 12|trisomy 12 mosaicism|Mosaic trisomy chromosome 12											GARD:0005304|ICD10:Q92.1|Orphanet:1698|UMLS:CN073989|SCTID:764463001																		owl:Class
MONDO:0012438	biolink:NamedThing	pontocerebellar hypoplasia type 5	Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.	mondoexuq1wtf	pontocerebellar hypoplasia, type 5|olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia fetal-onset|PCH5											Orphanet:166068|OMIM:610204|ICD10:Q04.3|DOID:0060274|UMLS:C1857762|SCTID:718607001|MESH:C537745|GARD:0010709														https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5				owl:Class
HGNC:27561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:552467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012849	biolink:NamedThing	Joubert syndrome 9	Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	mondoexuq1wtf	Joubert syndrome 9/15, digenic|CC2D2A Joubert syndrome|Joubert syndrome 9|JBTS9|Joubert syndrome type 9|Joubert syndrome caused by mutation in CC2D2A											OMIM:612285|MESH:C567364|UMLS:C2676788|DOID:0111004																		owl:Class
MONDO:0013859	biolink:NamedThing	cataract 38	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.	mondoexuq1wtf	cataract 38|autosomal recessive congenital cataract 5|cataract, autosomal recessive congenital 5|cataract type 38|CATC5|AGK early-onset non-syndromic cataract|CTRCT38|early-onset non-syndromic cataract caused by mutation in AGK											ICD10:Q12.0|UMLS:C3553494|OMIM:614691|DOID:0110245																		owl:Class
HP:0010566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013773	biolink:NamedThing	porencephaly 2	Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.	mondoexuq1wtf	COL4A2 porencephaly|porencephaly caused by mutation in COL4A2|POREN2|porencephaly 2|porencephaly type 2											OMIM:614483|UMLS:C3280970																		owl:Class
HGNC:2203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010975	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 2	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene.	mondoexuq1wtf	ARVC2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 2|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2|arrhythmogenic right ventricular dysplasia type 2|ARVD2|arrhythmogenic right ventricular dysplasia, familial, type 2|familial arrhythmogenic right ventricular dysplasia 2|arrhythmogenic right ventricular dysplasia, familial, 2											MESH:C563409|UMLS:C1832931|OMIM:600996|ICD10:I42.8|DOID:0110071																		owl:Class
HGNC:10484	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007642	biolink:NamedThing	isolated agenesis of gallbladder		mondoexuq1wtf	gallbladder, agenesis OF											OMIM:137040|ICD10:Q44.0|MESH:C562564|Orphanet:440987																		owl:Class
MONDO:0014953	biolink:NamedThing	gnb5-related intellectual disability-cardiac arrhythmia syndrome		mondoexuq1wtf	IDDCA|intellectual developmental disorder with cardiac arrhythmia; IDDCA|intellectual developmental disorder with cardiac arrhythmia											OMIM:617173|Orphanet:542306|UMLS:C4310682																		owl:Class
HGNC:4401	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010820	biolink:NamedThing	autosomal recessive juvenile Parkinson disease 2	A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.	mondoexuq1wtf	PARK2|autosomal recessive juvenile Parkinson disease type 2|autosomal recessive juvenile Parkinson disease|young-onset Parkinson disease caused by mutation in PRKN|Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2|PRKN young-onset Parkinson disease|Parkinsonism, early-onset, with diurnal fluctuation|PDJ|autosomal recessive juvenile Parkinson's disease 2|Parkinson disease 2, autosomal recessive juvenile|Parkinson disease, juvenile, autosomal recessive|juvenile parkinsonism|JP|Parkinson disease autosomal recessive, early onset											GARD:0009642|DOID:0060368|UMLS:C1868675|OMIM:600116																		owl:Class
HGNC:31582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013411	biolink:NamedThing	cataract 16 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.	mondoexuq1wtf	posterior polar cataract 2|CTRCT16|CTPP2|CRYAB early-onset non-syndromic cataract|cataract, congenital lamellar|cataract, posterior polar, 2|cataract 16, multiple types|early-onset non-syndromic cataract caused by mutation in CRYAB											ICD10:Q12.0|OMIM:613763|MESH:C565134|DOID:0110250																		owl:Class
HP:0011001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004653	biolink:NamedThing	atypical chronic myeloid leukemia, BCR-ABL1 negative	A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)	mondoexuq1wtf	subacute granulocytic leukemia|atypical chronic myeloid leukemia, BCR-ABL1 Negative|atypical CML|subacute myeloid leukemia|atypical chronic myeloid leukemia|aCML|subacute myelogenous leukemia											NCIT:C3519|DOID:8747|ICDO:9876/3|COHD:135499|SCTID:277589003																		owl:Class
CL:0000049	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15894	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10589	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014875	biolink:NamedThing	hyperaldosteronism, familial, type IV		mondoexuq1wtf	hyperaldosteronism, familial, type IV|aldosteronism, primary, and hypertension|FH 4|hyperaldosteronism, familial, type IV; HALD4|HALD4|hyperaldosteronism, familial, type 4											OMIM:617027|UMLS:C4310756																		owl:Class
MONDO:0014444	biolink:NamedThing	Bardet-Biedl syndrome 16	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	mondoexuq1wtf	BBS16|Bardet-Biedl syndrome 16|SDCCAG8 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome caused by mutation in SDCCAG8											DOID:0110138|OMIM:615993|ICD10:Q87.89|UMLS:C3889474																		owl:Class
HGNC:10671	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12926	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0037251	biolink:NamedThing	congestive splenomegaly		mondoexuq1wtf	fibrocongestive splenomegaly|congestive splenomegaly|banti's spleen|banti syndrome											SCTID:19058002																		owl:Class
UBERON:0001173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013955	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.	mondoexuq1wtf	IL12RB1 deficiency|IL-12Râ1 deficiency|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|immunodeficiency type 30|immunodeficiency 30|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|IMD30|MSMD due to complete interleukin 12 receptor beta 1 deficiency|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency											Orphanet:319552|UMLS:C4013949|ICD10:D84.8|GARD:0010984|OMIM:614891																		owl:Class
HGNC:5971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30260	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003674	biolink:NamedThing	subendocardial myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.	mondoexuq1wtf	subendocardium layer myocardial infarction (disease)|myocardial infarction (disease) of subendocardium layer											UMLS:C0262568|DOID:5849																		owl:Class
UBERON:0005984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014032	biolink:NamedThing	brachydactyly type A1C	Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.	mondoexuq1wtf	brachydactyly type A1 caused by mutation in GDF5|brachydactyly, type A1, C|BDA1C|GDF5 brachydactyly type A1											OMIM:615072|DOID:0110977|UMLS:C3554446																		owl:Class
OBO:CHR_9606-chr12	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018110	biolink:NamedThing	lethal idiopathic viral infection		mondoexuq1wtf												Orphanet:35064|UMLS:CN776879																		owl:Class
MONDO:0011864	biolink:NamedThing	immunodeficiency, common variable, 1		mondoexuq1wtf	CVID1|immunodeficiency, common variable, 1|immunodeficiency, common variable|antibody deficiency due to Icos defect|immunodeficiency, common variable, type 1											OMIM:607594|UMLS:C3149378																		owl:Class
HGNC:5351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004454	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011417	biolink:NamedThing	hemochromatosis type 3	Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	mondoexuq1wtf	hemochromatosis, type 3|TFR2-related hemochromatosis|HFE3|hemochromatosis due to defect in transferrin receptor 2|TFR2 hereditary hemochromatosis|hereditary hemochromatosis caused by mutation in TFR2											DOID:0111030|SCTID:719974003|Orphanet:225123|ICD10:E83.1|MESH:C537248|GARD:0010093|OMIM:604250|UMLS:C1858664														https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3				owl:Class
HGNC:11762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013966	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 4	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.	mondoexuq1wtf	ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|CPVT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, type 4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|CVPT4											ICD10:I47.2|DOID:0060678|OMIM:614916|UMLS:C3554047																		owl:Class
UBERON:0000947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001596	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8794	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014826	biolink:NamedThing	nucleoside diphosphate-linked moiety X Motif 15 deficiency		mondoexuq1wtf	THPM2|NUDT15D|Nudt15 deficiency|THIOPURINES, poor metabolism OF, 2|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|Thiopurines, poor metabolism Of, 2|nucleoside diphosphate-linked moiety X Motif 15 deficiency											UMLS:C4225160|OMIM:616903																		owl:Class
HGNC:23063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008701	biolink:NamedThing	achondrogenesis type IA	Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.	mondoexuq1wtf	ACG1A|achondrogenesis Houston-Harris type|Houston-Harris achondrogenesis|achondrogenesis type 1A|achondrogenesis, type IA|achondrogenesis, Houston-Harris type|achondrogenesis, type 1A											DOID:0080054|GARD:0000459|Orphanet:93299|MESH:C536015|ICD9:756.9|SCTID:42725006|OMIM:200600|ICD10:Q77.0																		owl:Class
HGNC:12305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002239	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002790	biolink:NamedThing	seminal vesicle tumor	A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.	mondoexuq1wtf	seminal vesicle neoplasm|tumor of seminal vesicle|neoplasm of seminal vesicle|seminal vesicle tumor|seminal vesicle neoplasm (disease)											UMLS:C0341767|DOID:3855|SCTID:236740006|ICD9:239.5|NCIT:C39908																		owl:Class
UBERON:0000998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17759	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017904	biolink:NamedThing	steroid dehydrogenase deficiency-dental anomalies syndrome	Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.	mondoexuq1wtf	severe dental aberrations in familial steroid dehydrogenase deficiency|steroid dehydrogenase deficiency dental anomalies|Lyngstadaas syndrome											ICD10:K76.8|SCTID:723583009|MESH:C537490|Orphanet:3196|GARD:0005015|UMLS:C2931508																		owl:Class
MONDO:0009039	biolink:NamedThing	Baller-Gerold syndrome	Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).	mondoexuq1wtf	craniosynostosis with radial defects|craniosynostosis-radial aplasia syndrome|BALLER-Gerold syndrome|BGS|Baller-Gerold syndrome											UMLS:C0265308|Orphanet:1225|OMIM:218600|DOID:0050654|MESH:C536788|GARD:0001602|ICD10:Q75.0|SCTID:77608001														https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome				owl:Class
HGNC:9949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021913	biolink:NamedThing	aquagenic pruritus	Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.	mondoexuq1wtf	aquagenic pruritus|water-induced itching											UMLS:C0406409|GARD:0010278|ICD9:698.8|SCTID:238695001														https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus				owl:Class
ECTO:9000156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010213	biolink:NamedThing	xeroderma pigmentosum group E	An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.	mondoexuq1wtf	xeroderma pigmentosum V|xeroderma pigmentosum group type E|XP group E|xeroderma pigmentosum, complementation group E|XP5|xeroderma pigmentosum, complementation group type E|xeroderma pigmentosum 5|XPE|XP, Group E|XPe|XP-E|xeroderma pigmentosum, type 5											SCTID:56048001|GARD:0005627|ICD10:Q82.1|MESH:C564732|NCIT:C114771|UMLS:C1848411|OMIM:278740|Orphanet:276261|DOID:0110846																		owl:Class
HGNC:2718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016697	biolink:NamedThing	low grade ependymoma		mondoexuq1wtf												Orphanet:251633|UMLS:CN201940|ICD10:D43.2																		owl:Class
HGNC:18337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013517	biolink:NamedThing	beta-thalassemia HBB/LCRB	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.	mondoexuq1wtf	beta-thalassemia											OMIM:613985|SCDO:0000251																		owl:Class
UBERON:0000004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018784	biolink:NamedThing	pediatric multiple sclerosis	Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.	mondoexuq1wtf	MS pediatric|pediatric MS|multiple sclerosis, pediatric											UMLS:CN037005|Orphanet:477738|GARD:0010443														https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis				owl:Class
HP:0410280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002646	biolink:NamedThing	viral laryngitis	Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.	mondoexuq1wtf	Viruses laryngitis|Viruses caused laryngitis											NCIT:C27305|SCTID:441551009|ICD9:464.00|UMLS:C0853195|DOID:3436																		owl:Class
MONDO:0018736	biolink:NamedThing	kaposiform lymphangiomatosis	A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.	mondoexuq1wtf	KLA					Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784]						ICD10:D18.1|Orphanet:464329																		owl:Class
MONDO:0014637	biolink:NamedThing	DOCK2 deficiency		mondoexuq1wtf	immunodeficiency type 40|IMD40|immunodeficiency 40											UMLS:C4225328|Orphanet:447737|ICD10:D81.8|GARD:0012653|OMIM:616433														https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency				owl:Class
HGNC:2988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011413	biolink:NamedThing	cataract 9 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.	mondoexuq1wtf	cataract 9 multiple types with or without microcornea|CTRCT9|cataract 9, multiple types|CATC1|autosomal recessive congenital cataract 1|cataract, autosomal recessive congenital 1|cataract 9, multiple types, with or without microcornea|cataract (disease) caused by mutation in CRYAA|cataract, autosomal dominant|CRYAA cataract (disease)											UMLS:C1858679|OMIM:604219|ICD10:Q12.0|DOID:0110266																		owl:Class
HGNC:2388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100263	biolink:NamedThing	peroxisome biogenesis disorder due to PEX6 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.	mondoexuq1wtf	PEX6 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX6 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:8859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012191	biolink:NamedThing	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	mondoexuq1wtf	COXPD1|GFM1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in GFM1|combined oxidative phosphorylation deficiency type 1|combined oxidative phosphorylation deficiency 1|Hepatoencephalopathy, early fatal progressive|Hepatoencephalopathy due to COXPD1											MESH:C563797|DOID:0111474|OMIM:609060|NCIT:C125663|Orphanet:137681|ICD10:E88.8|SCTID:764962002|UMLS:C1836797																		owl:Class
HGNC:13780	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014015	biolink:NamedThing	hereditary spastic paraplegia 56	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 56|hereditary spastic paraplegia type 56|autosomal recessive spastic paraplegia 56|SPG56|hereditary spastic paraplegia caused by mutation in CYP2U1|spastic paraplegia 56, autosomal recessive|CYP2U1 hereditary spastic paraplegia											ICD10:G11.4|DOID:0110808|OMIM:615030|UMLS:C3539507|Orphanet:320411																		owl:Class
HGNC:20582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0034054	biolink:NamedThing	severe combined immunodeficiency due to CD70 deficiency		mondoexuq1wtf												Orphanet:538958|OMIM:618261																		owl:Class
HGNC:11937	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23503	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032617	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 11		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11|MC1DN11											OMIM:618234																		owl:Class
HGNC:18828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012983	biolink:NamedThing	cone-rod dystrophy 12	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.	mondoexuq1wtf	cone-rod dystrophy caused by mutation in PROM1|PROM1 cone-rod dystrophy|cone-rod dystrophy 12|CORD12|cone-rod dystrophy type 12											UMLS:C2675210|DOID:0111019|OMIM:612657|MESH:C567206																		owl:Class
HGNC:2528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019545	biolink:NamedThing	systemic monochloroacetate poisoning	Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	mondoexuq1wtf												ICD10:T60.3|Orphanet:90069																		owl:Class
ECTO:0001659	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005371	biolink:NamedThing	mood disorder	A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.	mondoexuq1wtf	episodic mood disorder											ICD10:F30.F39|ICD10:F30-F39|MESH:D019964|ICD9:296.99|SCTID:46206005|NCIT:C92200|COHD:444100|ICD10:F39|EFO:0004247|UMLS:CN236678|DOID:3324																		owl:Class
OBO:MFOEM_000193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006671	biolink:NamedThing	Bacteroides infectious disease	Infections with bacteria of the genus bacteroides.	mondoexuq1wtf	infections, Bacteroides|Bacteroides infection|infection caused by Bacteroides|Bacteroides caused disease or disorder|infection, Bacteroides|infection due to Bacteroides|Bacteroides disease or disorder											EFO:1000832|MESH:D001442|SCTID:2918000|ICD9:041.84|UMLS:C0004669																		owl:Class
NCBITaxon:816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4311	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000282	biolink:NamedThing	Whitewater Arroyo hemorrhagic fever	A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.	mondoexuq1wtf												DOID:0050199																		owl:Class
NCBITaxon:42408	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024472	biolink:NamedThing	boutonneuse fever	An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.	mondoexuq1wtf	fievre boutonneuse|Conor and Bruch's disease|Rickettsia conorii spotted fever|boutonneuse fever|boutonneuse disease|Kenya tick typhus|South African tick-bite fever|Kenyan tick typhus|marseilles fever|Mediterranean tick fever|African tick typhus|Mediterranean spotted fever|Kenya fever|tick typhus due to rickettsia conorii											MedDRA:10006045|SCTID:186774005|UMLS:C0006060|Orphanet:101334|DOID:14095|Orphanet:83313|MESH:D001907|EFO:0007179|ICD9:082.1|ICD10:A77.1																		owl:Class
NCBITaxon:319546	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014786	biolink:NamedThing	IgA nephropathy, susceptibility to, 3	Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.	mondoexuq1wtf	IgA glomerulonephritis caused by mutation in SPRY2|IGAN3|IgA nephropathy, susceptibility to, 3; IGAN3|susceptibility to IgA nephropathy 3|SPRY2 IgA glomerulonephritis|IgA nephropathy, susceptibility to, 3|IgA nephropathy, susceptibility to, type 3											OMIM:616818																		owl:Class
HGNC:11270	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007303	biolink:NamedThing	cervical rib disease	A rib that is attached to a cervical vertebra or enlarged transverse processes.	mondoexuq1wtf	cervical rib syndrome|cervical rib					About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome.						HP:0000891|SCTID:72535009|NCIT:C158329|COHD:79144|EFO:1000861|ICD9:756.2|MedDRA:10008301|OMIM:117900|MESH:D002573														https://github.com/monarch-initiative/monarch-disease-ontology/issues/405				owl:Class
UBERON:0002228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4851	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024422	biolink:NamedThing	auditory perceptual disorders	Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.	mondoexuq1wtf	processing disorders, auditory|inattention, auditory|comprehension disorder, auditory|acoustic perceptual disorder|disorders, acoustic perceptual|disorders, auditory comprehension|perceptual disorder, acoustic|Psychoacoustical disorder|disorder, Psychoacoustical|disorder, acoustic perceptual|Inattentions, auditory|disorders, auditory processing|disorder, auditory processing|auditory comprehension disorders|auditory comprehension disorder|disorder of sensory perception of sound|perceptual disorder, auditory|auditory processing disorders|auditory processing disorder|auditory inattention|perceptual disorders, auditory|acoustic perceptual disorders|disorders, Psychoacoustical|comprehension disorders, auditory|sensory perception of sound disease|auditory Inattentions|perceptual disorders, acoustic|processing disorder, auditory|disorder, auditory comprehension|auditory perceptual disorder|Psychoacoustical disorders											MESH:D001308|SCTID:229752008|UMLS:C0751257|NCIT:C84575																		owl:Class
GO:0007605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013135	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 5	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.	mondoexuq1wtf	HLH5|hemophagocytic lymphohistiocytosis, familial, type 5|familial hemophagocytic lymphohistiocytosis type 5|STXBP2 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 5|FHL5|HPLH5|genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2											DOID:0110925|MESH:C567752|UMLS:C2751293|OMIM:613101																		owl:Class
HGNC:11445	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005745	biolink:NamedThing	Enoplea infectious disease	Infections with nematodes of the order enoplida.	mondoexuq1wtf	Enoplea disease or disorder|Enoplea caused disease or disorder											MESH:D017189|EFO:0007253																		owl:Class
NCBITaxon:119088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022293	biolink:NamedThing	vascular disorder of penis	A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.	mondoexuq1wtf	penile vascular disorder|Penile Vascular Disorder|Penile vascular disorder|Vascular disorder of penis|Penis vascular disorder											NCIT:C35218|UMLS:C0156307|MEDGEN:102349|SCTID:198029003|ICD9:607.82																		owl:Class
UBERON:0036269	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018334	biolink:NamedThing	chronic hiccup	Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.	mondoexuq1wtf	persistent hiccups|Hiccups, intractable|intractable hiccups|intractable singultus|chronic hiccups											HP:0100247|SCTID:716771000|Orphanet:396|GARD:0006657|UMLS:C0744898|UMLS:CN205022														https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups				owl:Class
HP:0100247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100094	biolink:NamedThing	cannabinoid hyperemesis syndrome	A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.	mondoexuq1wtf	CHS							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0010340	biolink:NamedThing	Asperger syndrome, X-linked, susceptibility to, 1		mondoexuq1wtf	Asperger syndrome, X-linked, susceptibility to, 1|ASPGX1|ASPERGER syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, type 1|susceptibility to X-linked asperger syndrome 1											OMIM:300494|UMLS:C1845341																		owl:Class
HGNC:14289	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032618	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 13		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13|MC1DN13											OMIM:618235																		owl:Class
HGNC:7685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013681	biolink:NamedThing	alpha-methylacyl-CoA racemase deficiency	A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.	mondoexuq1wtf	AMACR|alpha-methylacyl-CoA racemase deficiency|AMACRD|AMACR deficiency											EFO:1001980|SCTID:700463002|NCIT:C119677|MESH:C565768|OMIM:614307|DOID:0060602|UMLS:C3280428																		owl:Class
HGNC:451	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0018271	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017423	biolink:NamedThing	split hand or/and split foot malformation		mondoexuq1wtf						Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss)						Orphanet:294935|ICD10:Q72.7|ICD10:Q71.6																		owl:Class
HP:0100257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013344	biolink:NamedThing	migraine, with or without aura, susceptibility to, 13	Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.	mondoexuq1wtf	migraine with or without aura, susceptibility to, 13|KCNK18 migraine disorder|migraine disorder caused by mutation in KCNK18|migraine, with or without aura, susceptibility to, 13|MGR13|migraine, with or without aura, susceptibility to, type 13|susceptibility to migraine with or without aura 13											OMIM:613656																		owl:Class
HGNC:4800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007598	biolink:NamedThing	factors VIII, IX and XI, combined deficiency of		mondoexuq1wtf	multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|factors VIII, IX and XI, combined deficiency of|familial multiple coagulation Factor deficiency 5											MESH:C565023|UMLS:C1851375|OMIM:134520																		owl:Class
MONDO:0009673	biolink:NamedThing	spinal muscular atrophy, type II	Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	mondoexuq1wtf	Dubowitz disease|SMA type II|chronic spinal muscular atrophy|SMA type 2|SMA II|chronic infantile spinal muscular atrophy|spinal muscular atrophy type II|SMA2|muscular atrophy, spinal, infantile chronic form|SMA-II|spinal muscular atrophy, type II|muscular atrophy, spinal, Intermediate type|proximal spinal muscular atrophy type 2|spinal muscular atrophy, type 2|muscular atrophy, spinal, intermediate type|spinal muscular atrophy type 2|Sma 2|Intermediate spinal muscular atrophy											ICD10:G12.1|SCTID:128212001|Orphanet:83418|MESH:C536879|DOID:0050530|GARD:0004945|OMIM:253550|ICD9:335.19																		owl:Class
MONDO:0011058	biolink:NamedThing	autosomal dominant nonsyndromic deafness 9	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness caused by mutation in COCH|deafness, autosomal dominant type 9|deafness, autosomal dominant 9|DFNA9|COCH autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 9|autosomal dominant deafness 9											ICD10:H90.3|UMLS:C1832425|OMIM:601369|MESH:C563335|DOID:0110593																		owl:Class
HGNC:2180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015395	biolink:NamedThing	congenital subglottic stenosis		mondoexuq1wtf												Orphanet:141121|ICD9:748.3|SCTID:204552001|ICD10:Q31.1																		owl:Class
HP:0001607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004743	biolink:NamedThing	hyperhomocysteinemia	A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.	mondoexuq1wtf												DOID:9279|MESH:D020138|UMLS:C0598608|SCTID:419503008|NCIT:C84770																		owl:Class
HP:0002160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008797	biolink:NamedThing	anodontia	Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.	mondoexuq1wtf	anodontia of permanent dentition|complete absence of teeth|total anodontia of permanent and deciduous teeth|teeth, permanent, absence of|developmental absence of tooth|absence of permanent teeth											ICD10:K00.0|COHD:440438|MESH:D000848|OMIM:206780|DOID:13714|ICD9:520.0|SCTID:16958000|MedDRA:10002583|GARD:0005818|Orphanet:99797														https://rarediseases.info.nih.gov/diseases/5818/anodontia				owl:Class
UBERON:0001736	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008905	biolink:NamedThing	predisposition to invasive fungal disease due to CARD9 deficiency		mondoexuq1wtf	CARD9 immunodeficiency|CANDF2|candidiasis, familial, 2|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, type 2|invasive candidiasis-deep dermatophytosis syndrome|candidiasis familial chronic mucocutaneous, autosomal recessive|CARD9 deficiency											UMLS:C1859353|OMIM:212050|ICD10:D84.8|GARD:0001077|Orphanet:457088																		owl:Class
HGNC:16391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0037821	biolink:NamedThing	porphyrin metabolism disease	A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.	mondoexuq1wtf	porphyrin-containing compound metabolic process disease|disorder of porphyrin metabolism|disorder of porphyrin and heme metabolism|disorder of porphyrin-containing compound metabolic process											SCTID:29094004																		owl:Class
GO:0006778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045044	biolink:NamedThing	ligament disease	A disease or disorder that involves the ligament.	mondoexuq1wtf	disease of ligament|disorder of ligament|ligament disease or disorder|disease or disorder of ligament											UMLS:C0263976|SCTID:60492000																		owl:Class
UBERON:0000211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016469	biolink:NamedThing	Ehlers-Danlos syndrome, vascular-like type	Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.	mondoexuq1wtf	EDS, vascular-like type											Orphanet:230845|ICD10:Q79.6|UMLS:CN201458|SCTID:720862007																		owl:Class
UBERON:0002094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007698	biolink:NamedThing	hand-foot-genital syndrome	Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.	mondoexuq1wtf	hand foot genital syndrome|HFG|HFG syndrome|hand-foot-genital syndrome|hand-foot-uterus syndrome|hand foot uterus syndrome|HFU syndrome|HFGS											GARD:0002594|ICD9:759.89|ICD10:Q51.2|SCTID:702425002|MedDRA:10072361|MESH:C535627|UMLS:C1841679|OMIM:140000|DOID:0060739|Orphanet:2438																		owl:Class
HP:0001317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015015	biolink:NamedThing	congenital bile acid synthesis defect 6	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.	mondoexuq1wtf	CBAS6|bile acid synthesis defect, congenital, 6|congenital bile acid synthesis defect caused by mutation in ACOX2|ACOX2 congenital bile acid synthesis defect|congenital bile acid synthesis defect type 6|bile acid synthesis defect, congenital, type 6											OMIM:617308|UMLS:C4310624|DOID:0111067																		owl:Class
HGNC:120	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007733	biolink:NamedThing	holoprosencephaly 3	Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.	mondoexuq1wtf	HLP3|holoprosencephaly caused by mutation in Shh|HPE3|holoprosencephaly caused by mutation in SHH|SHH holoprosencephaly|holoprosencephaly 3|Shh holoprosencephaly|Hlp3|holoprosencephaly type 3											DOID:0110875|OMIM:142945|MESH:C564181|UMLS:C1840529																		owl:Class
HGNC:10848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012676	biolink:NamedThing	autosomal recessive osteopetrosis 4	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.	mondoexuq1wtf	autosomal recessive osteopetrosis type 4|CLCN7 autosomal recessive osteopetrosis|osteopetrosis autosomal recessive 4|osteopetrosis, autosomal recessive 4|osteopetrosis, infantile malignant 2|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|osteopetrosis infantile malignant 2|infantile malignant osteopetrosis 2|OPTB4|autosomal recessive osteopetrosis caused by mutation in CLCN7|CLCN7 autosomal recessive malignant osteopetrosis|osteopetrosis, autosomal recessive type 4											GARD:0005993|OMIM:611490|MESH:C566933|DOID:0110944														https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4				owl:Class
UBERON:0000423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009388	biolink:NamedThing	hyperlysinemia	Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.	mondoexuq1wtf	hyperlysinemia|L-lysine NAD-oxido-reductase deficiency|hyperlysinemia, type I|hyperlysinemia, type 1|hyperlysinemia (disease)|L-lysine:NAD-oxido-reductase deficiency|lysine alpha-ketoglutarate reductase deficiency|hyperlysinemia type I|Alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance|lysine:Alpha-ketoglutarate reductase deficiency		hyperlysinemia (disease)									SCTID:58558003|GARD:0002828|OMIM:238700|HP:0002161|ICD9:270.7|ICD10:E72.3|DOID:9274|NCIT:C123433|Orphanet:2203|UMLS:C0268553																		owl:Class
HGNC:17366	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:483	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024526	biolink:NamedThing	Zimmermann-Laband syndrome 1	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.	mondoexuq1wtf	ZLS1|fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|KCNH1 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome 1|Laband syndrome|Zimmermann-Laband syndrome caused by mutation in KCNH1											OMIM:135500|UMLS:CN032818																		owl:Class
HGNC:6250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012288	biolink:NamedThing	iridogoniodysgenesis and skeletal anomalies		mondoexuq1wtf	iridogoniodysgenesis and skeletal anomalies											UMLS:C1836074|MESH:C535534|GARD:0010058|OMIM:609515														https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies				owl:Class
UBERON:0002097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014027	biolink:NamedThing	hypotrichosis 11	Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.	mondoexuq1wtf	SNRPE hypotrichosis|HYPT11|hypotrichosis 11|hypotrichosis caused by mutation in SNRPE|hypotrichosis type 11|hypt11											UMLS:C3554409|OMIM:615059|DOID:0110708																		owl:Class
HGNC:11161	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016052	biolink:NamedThing	atypical autism	Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '	mondoexuq1wtf												ICD10:F84.1|MedDRA:10003747|Orphanet:199627|ICD9:299.80|SCTID:231536004																		owl:Class
MONDO:0014761	biolink:NamedThing	hereditary pediatric Behçet-like disease		mondoexuq1wtf	autoinflammatory syndrome, familial, Behcet-like|hereditary pediatric Behçet-like disease|Behçet-like disease due to haploinsufficiency of A20|AISBL|Behçet-like disease due to HA20											UMLS:C4225218|Orphanet:476102|OMIM:616744																		owl:Class
HGNC:11896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043529	biolink:NamedThing	carcinoid heart disease	Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.	mondoexuq1wtf	carcinoid heart diseases|heart disease, carcinoid|carcinoid heart disease|heart diseases, carcinoid											EFO:1001775|SCTID:36222008|UMLS:C0007093|MESH:D002275																		owl:Class
MONDO:0013350	biolink:NamedThing	mitochondrial DNA depletion syndrome 4b		mondoexuq1wtf	mitochondrial DNA depletion syndrome 4B (MNGIE type)|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|Mngie, Polg-related|MTDPS4B|mitochondrial DNA depletion syndrome type 4b											OMIM:613662|DOID:0080123|UMLS:C3150914																		owl:Class
HGNC:9179	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010401	biolink:NamedThing	X-linked myopathy with postural muscle atrophy	X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	mondoexuq1wtf	XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked|myopathy, X-linked, with postural muscle atrophy											UMLS:C2678055|DOID:0070251|Orphanet:178461|ICD10:G71.0|OMIM:300696																		owl:Class
HGNC:3702	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001134	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003598	biolink:NamedThing	median nerve neuropathy	Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).	mondoexuq1wtf	peripheral neuropathy of median nerve|median nerve peripheral neuropathy|median neuropathy|median nerve palsy											ICD10:G56.10|DOID:571|ICD10:G56.1|MESH:D020423|SCTID:397828008|ICD9:354.1																		owl:Class
UBERON:0001148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9479	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0040728	biolink:NamedThing	Campylobacter fetus infectious disease		mondoexuq1wtf	infection by Campylobacter fetus|infection by vibrio fetus|infection caused by vibrio fetus|infection caused by Campylobacter fetus											UMLS:C0275979|SCTID:111835002																		owl:Class
NCBITaxon:196	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012517	biolink:NamedThing	atypical Gaucher disease due to saposin C deficiency	Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.	mondoexuq1wtf	PSAP Gaucher disease|Gaucher disease, atypical, due to saposin C deficiency|atypical Gaucher's disease due to saposin c deficiency|Gaucher disease, atypical|Gaucher disease caused by mutation in PSAP|atypical Gaucher disease due to saposin C deficiency											ICD10:E75.2|UMLS:C1864651|DOID:0110961|MESH:C566435|Orphanet:309252|GARD:0012503|OMIM:610539																		owl:Class
CL:0000125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008482	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010850	biolink:NamedThing	Tessier number 4 facial cleft		mondoexuq1wtf	oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, 1|facial clefting, oblique, type 1|OBLFC1											ICD10:Q18.8|Orphanet:141258|OMIM:600251																		owl:Class
HGNC:29022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002811	biolink:NamedThing	main bronchus cancer	A malignant neoplasm involving the main bronchus.	mondoexuq1wtf	main bronchus cancer|malignant main bronchus neoplasm|Ca main bronchus|malignant neoplasm of main bronchus|cancer of main bronchus											COHD:4157333|ICD10:C34.0|ICD9:162.2|SCTID:372065009|DOID:3924|UMLS:C0153490																		owl:Class
UBERON:0002182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024535	biolink:NamedThing	Singleton-Merten syndrome 1	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.	mondoexuq1wtf	IFIH1 singleton-Merten dysplasia|singleton-Merten dysplasia caused by mutation in IFIH1|SGMRT1|singleton-Merten syndrome 1											OMIM:182250|UMLS:C4225427																		owl:Class
MONDO:0010204	biolink:NamedThing	lysosomal acid lipase deficiency	Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.	mondoexuq1wtf	lysosomal and lipase deficiency|cholesterol ester hydrolase deficiency|Wolman disease|lysosomal acid lipase deficiency|LAL deficiency|lipa deficiency|cholesteryl ester storage disease											OMIM:278000|GARD:0012097|SCTID:715923003|Orphanet:275761|MESH:C531854|ICD10:E75.5|DOID:0080217																		owl:Class
HGNC:6617	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002285	biolink:NamedThing	pupil disease	A disease involving the pupil.	mondoexuq1wtf	disorder of pupil|disease of pupil|pupillary disorder|pupil disease|disease or disorder of pupil|pupil disease or disorder											DOID:238|UMLS:C0034124|SCTID:68633000																		owl:Class
UBERON:0001771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0017168	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15868	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000991	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014588	biolink:NamedThing	congenital myasthenic syndrome 11	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.	mondoexuq1wtf	Cms Ie, formerly|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 11|congenital myasthenic syndrome caused by mutation in RAPSN|CMS11|myasthenic syndrome, congenital, Ie|CMS1E|CMS Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 1e|Cms Ie|RAPSN congenital myasthenic syndrome|myasthenic syndrome, congenital, Ie, formerly											DOID:0110675|OMIM:616326|MESH:C563831																		owl:Class
HGNC:6636	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010306	biolink:NamedThing	X-linked intellectual disability, Cabezas type	X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.	mondoexuq1wtf	X-linked intellectual disability with short stature|MRXS15|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, with short stature|mental retardation, X-linked, syndromic 15 (Cabezas type)|MRXSC|X-linked mental retardation with short stature, hypogonadism, and abnormal gait|mental retardation, X-linked, syndromic 15|Cabezas syndrome|intellectual disability, X-linked, syndromic, Cabezas type|intellectual disability, X-linked, syndromic 15 (Cabezas type)|X-linked mental retardation with short stature|Cabezas type of X-linked syndromic intellectual disability|Cabezas syndrome; syndromic X-linked mental retardation 15|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|Cul4B-related X-linked intellectual disability|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|mental retardation, X-linked, syndromic, Cabezas type|Cabezas syndrome; syndromic X-linked intellectual disability 15|mental retardation, X-linked, with short stature|MRSS|intellectual disability, X-linked, syndromic 15|syndromic X-linked intellectual disability Cabezas type					OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb.						OMIM:300354|ICD10:Q87.8|DOID:0060822|UMLS:C1845861|GARD:0013244|UMLS:C1845845|Orphanet:85293|SCTID:719811001																		owl:Class
HGNC:2555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700057	biolink:NamedThing	neurological pain disorder	A nervous system disorder that has pain as a major feature.	mondoexuq1wtf	neurologic pain syndrome|neurological pain disease							http://orcid.org/0000-0002-4142-7153																						owl:Class
GO:0019233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014475	biolink:NamedThing	spinocerebellar ataxia type 40	Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.	mondoexuq1wtf	spinocerebellar ataxia type 40|spinocerebellar ataxia 40|SCA40											DOID:0050986|Orphanet:423275|EFO:0009057|UMLS:CN219009|UMLS:CN237494|GARD:0012371|OMIM:616053|UMLS:C4518336|SCTID:734020000|ICD10:G11.8																		owl:Class
HGNC:19967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:485	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009560	biolink:NamedThing	oculotrichoanal syndrome		mondoexuq1wtf	MANITOBA oculotrichoanal syndrome|Marles-Greenberg-Persaud syndrome|MOTA|MOTA syndrome|Manitoba Trichoanal syndrome|Manitoba oculotrichoanal syndrome|Marles syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies											GARD:0003395|OMIM:248450|SCTID:703539006|UMLS:C1855425|ICD10:Q87.8|MESH:C536022|ICD9:759.89|Orphanet:2717																		owl:Class
MONDO:0008476	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Strudwick type	Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).	mondoexuq1wtf	SmD|dappled metaphysis syndrome|spondyloepimetaphyseal dysplasia, Strudwick type|spondylometaepiphyseal dysplasia congenita, Strudwick type|SMED Strudwick type|Strudwick syndrome|spondylometaphyseal dysplasia|Semdc|Smed, type 1|spondyloepimetaphyseal dysplasia Strudwick type|SEMDSTWK|Smed, Strudwick type|SMED type 1|spondyloepimetaphyseal dysplasia congenita, Strudwick type|SEMD, Strudwick type											DOID:0080028|ICD9:758.89|OMIM:184250|SCTID:702350003|ICD10:Q77.7|GARD:0000134|Orphanet:93346														https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type				owl:Class
HP:0002651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009839	biolink:NamedThing	progressive supranuclear palsy-parkinsonism syndrome	PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	mondoexuq1wtf	Parkinson-dementia syndrome|progressive supranuclear palsy atypical|supranuclear palsy, progressive, 1, atypical|PSP-parkinsonism|Steele-Richardson-Olszewski syndrome, atypical|atypical PSP|PSP-p											MESH:C537240|GARD:0004507|UMLS:CN201680|OMIM:260540|Orphanet:240085|ICD10:G23.1																		owl:Class
HGNC:6893	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009827	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014495	biolink:NamedThing	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		mondoexuq1wtf	retinal dystrophy, juvenile cataracts, and short stature syndrome|RDJCSS|retinal dystrophy-juvenile cataract-short stature syndrome											OMIM:616108|UMLS:C4015242|Orphanet:436245|ICD10:Q87.8																		owl:Class
HGNC:17964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011923	biolink:NamedThing	osteoarthritis susceptibility 3	Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.	mondoexuq1wtf	osteoarthritis susceptibility type 3|osteoarthritis caused by mutation in ASPN|osteoarthritis of knee/hip|ASPN osteoarthritis|osteoarthritis susceptibility 3|OS3											OMIM:607850																		owl:Class
HGNC:9457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MF_0000020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006849	biolink:NamedThing	mastitis	Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.	mondoexuq1wtf	inflammatory breast disease|inflammation of breast|inflammatory disease of breast|breast inflammation|breast infection											MESH:D008413|DOID:10690|UMLS:C0392317|SCTID:45198002|MedDRA:10026883|EFO:1001034|UMLS:C0024894|NCIT:C53662																		owl:Class
UBERON:0000310	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017129	biolink:NamedThing	inherited cardiac tumor	An instance of heart cancer that is caused by a modification of the individual's genome.	mondoexuq1wtf	hereditary heart neoplasm|genetic cardiac tumor|genetic heart tumor											Orphanet:271841|UMLS:CN202528																		owl:Class
MONDO:0011026	biolink:NamedThing	autosomal recessive congenital ichthyosis 4A	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.	mondoexuq1wtf	ichthyosis lamellar 2|ARCI4A|ichthyosis, congenital, autosomal recessive 4A|ichthyosis congenita IIB|lamellar ichthyosis 2|ichthyosis, lamellar, 2, formerly|ichthyosis congenita 2B|ichthyosis, congenital, autosomal recessive type 4A|autosomal recessive congenital ichthyosis type 4A|lamellar ichthyosis, type 2|LI2|ichthyosis, lamellar, 2|ICR2B											MESH:C537264|OMIM:601277|GARD:0009733|ICD10:Q80.2|DOID:0060712																		owl:Class
HGNC:14637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008980	biolink:NamedThing	ataxia-hypogonadism-choroidal dystrophy syndrome	Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	mondoexuq1wtf	Boucher-Neuhchäuser syndrome|ataxia - hypogonadism - choroidal dystrophy|Boucher-Neuhäuser syndrome|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|BNHS|Boucher-Neuhauser syndrome											DOID:0111265|MESH:C565850|OMIM:215470|Orphanet:1180|UMLS:C1859093|GARD:0000944|SCTID:715984007|ICD10:G11.8																		owl:Class
MONDO:0003671	biolink:NamedThing	septal myocardial infarction	A myocardial infarction (disease) that involves the cardiac septum.	mondoexuq1wtf	cardiac septum myocardial infarction (disease)|myocardial infarction (disease) of cardiac septum											DOID:5846																		owl:Class
UBERON:0004492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000990	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001388	biolink:NamedThing	glans penis cancer	A malignant neoplasm involving the glans penis.	mondoexuq1wtf	malignant glans penis neoplasm|malignant tumour of glans penis|cancer of glans penis|malignant tumor of glans penis|glans penis cancer|malignant neoplasm of glans penis											ICD9:187.2|DOID:11839|UMLS:C0153599|SCTID:363451005|ICD10:C60.1																		owl:Class
UBERON:0001299	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014519	biolink:NamedThing	chronic mountain sickness, susceptibility to		mondoexuq1wtf	chronic mountain sickness, susceptibility to|Monge disease											OMIM:616182|UMLS:C0274294																		owl:Class
MONDO:0006625	biolink:NamedThing	altitude sickness	Multiple symptoms associated with reduced oxygen at high altitude.	mondoexuq1wtf												MESH:D000532|EFO:1000782|Wikipedia:Altitude_sickness|ICD10:T70.2																		owl:Class
HGNC:10940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014349	biolink:NamedThing	pontocerebellar hypoplasia type 10	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.	mondoexuq1wtf	pontocerebellar hypoplasia, type 10|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1|CLP1-related pontocerebellar hypoplasia|CLP1 non-syndromic pontocerebellar hypoplasia|PCH10											ICD10:Q04.3|Orphanet:411493|UMLS:C4014347|DOID:0060279|OMIM:615803																		owl:Class
HGNC:16999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014970	biolink:NamedThing	spermatogenic failure 17	Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.	mondoexuq1wtf	spermatogenic failure 17|PLCZ1 azoospermia|spermatogenic failure type 17|Male infertility due to oocyte Activation failure|azoospermia caused by mutation in PLCZ1|SPGF17|spermatogenic failure 17; SPGF17											UMLS:C4310666|OMIM:617214|DOID:0070174																		owl:Class
HGNC:19218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012190	biolink:NamedThing	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome		mondoexuq1wtf	nephropathy with pretibial epidermolysis bullosa and deafness|nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome											Orphanet:300333|OMIM:609057|UMLS:C1836823|MESH:C563798																		owl:Class
HGNC:1630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012793	biolink:NamedThing	hypouricemia, renal, 2		mondoexuq1wtf	hypouricemia, renal, 2|uric acid concentration, serum, quantitative trait locus 2|gout susceptibility 2|hypouricemia, renal, type 2|RHUC2											UMLS:C2677549|MESH:C567426|OMIM:612076																		owl:Class
HGNC:13446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30881	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005120	biolink:NamedThing	Drosophila C virus infection	A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.	mondoexuq1wtf	Drosophila C virus infectious disease|Drosophila C virus disease or disorder|Drosophila C virus caused disease or disorder											EFO:0000779|PMID:25253354																		owl:Class
NCBITaxon:64279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013937	biolink:NamedThing	peroxisome biogenesis disorder 6B		mondoexuq1wtf	PBD6B|peroxisome biogenesis disorder 6B|peroxisome biogenesis disorder type 6B											OMIM:614871|UMLS:C3553948|NCIT:C155759														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0032631	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 27		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27|MC1DN27											OMIM:618248																		owl:Class
HGNC:29666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0098975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014512	biolink:NamedThing	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.	mondoexuq1wtf	intellectual disability, autosomal dominant 31|mental retardation, autosomal dominant 31|intellectual disability, autosomal dominant type 31|autosomal dominant non-syndromic intellectual disability 31|mental retardation, autosomal dominant type 31|autosomal dominant intellectual disability 31|autosomal dominant mental retardation 31|MRD31											Orphanet:438216|UMLS:CN237609|UMLS:C4015357|OMIM:616158|ICD10:G40.4|DOID:0070061																		owl:Class
HGNC:9701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008770	biolink:NamedThing	amelogenesis imperfecta type 1C		mondoexuq1wtf	amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, type IC|amelogenesis imperfecta, type 1C|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|AI1C|autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|amelogenesis imperfecta type IC											OMIM:204650|DOID:0110056|UMLS:C2673923|MESH:C567147|ICD10:K00.5																		owl:Class
HGNC:3344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0047598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014066	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 5	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.	mondoexuq1wtf	UQCRC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 5|mitochondrial Complex 3 deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|MC3DN5											OMIM:615160|DOID:0080114|UMLS:C3554608																		owl:Class
HGNC:12586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012450	biolink:NamedThing	spinocerebellar ataxia type 28	Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.	mondoexuq1wtf	SCA28|spinocerebellar ataxia 28|spinocerebellar ataxia type 28											UMLS:C1853249|UMLS:C4274988|MESH:C537205|GARD:0009951|ICD10:G11.1|DOID:0050977|SCTID:715824008|OMIM:610246|Orphanet:101109																		owl:Class
HGNC:315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014743	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 5	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.	mondoexuq1wtf	rhizomelic chondrodysplasia punctata caused by mutation in PEX5|rhizomelic chondrodysplasia punctata type 5|rhizomelic chondrodysplasia punctata, type 5|Rcdp5|PEX5 rhizomelic chondrodysplasia punctata|RCDP5											Orphanet:468717|OMIM:616716|DOID:0110854|UMLS:C4225237														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:9719	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009528	biolink:NamedThing	chylomicron retention disease	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	mondoexuq1wtf	Anderson disease|lipid Transport defect of intestine|CRD|hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|chylomicron retention disease|CMRD|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells											UMLS:C0795956|GARD:0009683|DOID:0060357|ICD10:E78.3|OMIM:246700|SCTID:702364003|Orphanet:71|MESH:C535460|ICD10:E78.6														https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease				owl:Class
HGNC:10535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007301	biolink:NamedThing	cerebrocostomandibular syndrome	Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.	mondoexuq1wtf	CEREBROCOSTOMANDIBULAR syndrome|cerebrocostomandibular syndrome|CCMS|CCM syndrome|rib Gap defects with micrognathia|cerebro-costo-mandibular syndrome											SCTID:51780007|DOID:0111248|UMLS:C0265342|ICD10:Q87.8|MESH:C562538|GARD:0006026|Orphanet:1393|OMIM:117650|ICD9:759.89																		owl:Class
HGNC:11153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100144	biolink:NamedThing	Uner Tan Syndrome	A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.	mondoexuq1wtf	recessive quadrupedalism																													owl:Class
HGNC:30829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012861	biolink:NamedThing	premature ovarian failure 6	Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.	mondoexuq1wtf	premature ovarian failure 6|premature ovarian failure type 6|Pof6|primary ovarian failure caused by mutation in FIGLA|FIGLA primary ovarian failure											OMIM:612310|MESH:C567351|UMLS:C2676742																		owl:Class
HGNC:24669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014341	biolink:NamedThing	complex cortical dysplasia with other brain malformations 6	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.	mondoexuq1wtf	cortical dysplasia, Complex, with Other brain malformations type 6|complex cortical dysplasia with other brain malformations type 6|CDCBM6|cortical dysplasia, complex, with other brain malformations 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB|TUBB complex cortical dysplasia with other brain malformations|CDCBM56											OMIM:615771|DOID:0090136|UMLS:C4014283																		owl:Class
HGNC:20778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012231	biolink:NamedThing	Charcot-Marie-Tooth disease type 2A2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	mondoexuq1wtf	autosomal dominant Charcot-Marie-Tooth disease type 2A2|HMSN2A2|HMSN IIA2|Charcot-Marie-Tooth disease, neuronal, type 2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|hereditary motor and sensory neuropathy IIa2|HMSN IIa2|Charcot-Marie-Tooth neuropathy type 2A2|Charcot-Marie-Tooth neuronal type 2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|CMT2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|CMT2A2|MFN2 Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy IIA2|Charcot-Marie-Tooth neuropathy, type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2											ICD10:G60.0|DOID:0110155|Orphanet:99947|MESH:C563757|UMLS:C1836485|OMIM:609260|SCTID:764850002|NCIT:C150646																		owl:Class
HGNC:16877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6694	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0045036	biolink:NamedThing	primary infectious	A characteristic of an infectious disease in which the disease affects an immunologically normal host.	mondoexuq1wtf																														owl:Class
MONDO:0014178	biolink:NamedThing	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.	mondoexuq1wtf	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|multisystem Proteinopathy 2|IBMPFD2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia											UMLS:C3809468|OMIM:615422|DOID:0111384																		owl:Class
HGNC:5033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014296	biolink:NamedThing	Warburg micro syndrome 4	Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.	mondoexuq1wtf	micro syndrome 4|Warburg micro syndrome caused by mutation in TBC1D20|Warburg micro syndrome type 4|Warburg micro syndrome 4|WARBM4|WARBURG micro syndrome 4|TBC1D20 Warburg micro syndrome											UMLS:C3810265|DOID:0110719|OMIM:615663|ICD10:Q87.0																		owl:Class
HGNC:16133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007299	biolink:NamedThing	Sotos syndrome 1	Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.	mondoexuq1wtf	Sotos syndrome type 1|Sotos syndrome caused by mutation in NSD1|Sotos syndrome 1|NSD1 Sotos syndrome|cerebral gigantism|SOTOS1|chromosome 5Q35 deletion syndrome|Sotos syndrome											OMIM:117550|SCTID:75968004|UMLS:CN035106																		owl:Class
HGNC:14234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000016798	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014902	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 3	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.	mondoexuq1wtf	nasopharyngeal carcinoma, susceptibility to, 3|susceptibility to nasopharyngeal carcinoma 3|nasopharyngeal carcinoma, susceptibility to, type 3|nasopharyngeal carcinoma caused by mutation in MST1R|NPCA3|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|MST1R nasopharyngeal carcinoma											OMIM:617075																		owl:Class
HGNC:7381	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014947	biolink:NamedThing	developmental and epileptic encephalopathy, 46	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|DEE46|GRIN2D early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 46|epileptic encephalopathy, early infantile, 46; EIEE46|EIEE46											DOID:0080456|UMLS:C4310687|OMIM:617162																		owl:Class
HGNC:4588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016852	biolink:NamedThing	paternal uniparental disomy of chromosome X		mondoexuq1wtf	paternal uniparental disomy of chromosome type X|UPD(X)pat											ICD10:Q99.8|Orphanet:261524																		owl:Class
MONDO:0009113	biolink:NamedThing	hemolytic anemia due to diphosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.	mondoexuq1wtf	bisphosphoglyceromutase deficiency|DPGM deficiency|diphosphoglycerate mutase deficiency of erythrocyte|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|BPGM deficiency											NCIT:C131638|DOID:0111630|GARD:0001874|OMIM:222800|Orphanet:714|UMLS:C1291620|ICD10:D55.2																		owl:Class
HGNC:1093	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035639	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7871	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0013718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014126	biolink:NamedThing	Perrault syndrome 4	Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.	mondoexuq1wtf	Perrault syndrome 4|LARS2 Perrault syndrome|PRLTS4|Perrault syndrome caused by mutation in LARS2|Perrault syndrome type 4											OMIM:615300|UMLS:C3809105																		owl:Class
HGNC:17095	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1987	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014994	biolink:NamedThing	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		mondoexuq1wtf	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|GDACCF											OMIM:617260|UMLS:C4310644																		owl:Class
HGNC:12933	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014041	biolink:NamedThing	autism, susceptibility to, 19		mondoexuq1wtf	AUTS19|susceptibility to autism 19|autism, susceptibility to, type 19|autism, susceptibility to, 19					Not listed in the OMIM series but the page directs you to 209850 for the full details.						OMIM:615091																		owl:Class
HGNC:3287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008086	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 1A	An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.	mondoexuq1wtf	HSAN 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|hereditary sensory and autonomic neuropathy type 1A|HSN 1A|neuropathy, hereditary sensory and autonomic, type IA|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A|HSAN1A|hereditary sensory and autonomic neuropathy type IA|neuropathy, hereditary sensory, type 1A|SPTLC1 hereditary sensory and autonomic neuropathy type 1					Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010).						OMIM:162400|DOID:0070152|GARD:0004798																		owl:Class
GO:0004758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008842	biolink:NamedThing	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	mondoexuq1wtf	early-onset cerebellar ataxia with hypoalbuminemia|ataxia-oculomotor apraxia type 1|ataxia-oculomotor apraxia syndrome|EAOH|ataxia, adult-onset, with oculomotor apraxia|ataxia with oculomotor apraxia type 1|EOCA-HA|ataxia-oculomotor apraxia 1|APTX oculomotor apraxia or related oculomotor disease|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|AOA1|oculomotor apraxia or related oculomotor disease caused by mutation in APTX|cerebellar ataxia, early-onset, with hypoalbuminemia|early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia-telangiectasia-like syndrome					Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,						GARD:0009283|UMLS:C1859598|ICD10:G11.3|OMIM:208920|MESH:C538013|DOID:0050754|Orphanet:1168																		owl:Class
UBERON:0003134	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008042	biolink:NamedThing	myoclonus and ataxia		mondoexuq1wtf	dentatorubral atrophy|dentate cerebellar ataxia|progressive myoclonus ataxia|dyssynergia cerebellaris progressiva|Ramsay Hunt syndrome type 1 (formerly)|dyssynergia cerebellaris myoclonica|myoclonus and ataxia|Ramsay Hunt syndrome|primary dentatum atrophy|Ramsay Hunt syndrome type 1					Editor note: consider merging into MONDO:0008945						OMIM:159700|UMLS:C1834580|GARD:0009256																		owl:Class
MONDO:0008945	biolink:NamedThing	myoclonic cerebellar dyssynergia	A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)	mondoexuq1wtf	dyssynergia cerebellaris myoclonica|Ramsay Hunt cerebellar syndrome|Ramsay Hunt syndrome type 1|Spinodentate atrophy|cerebelloparenchymal disorder 5|CPD5|dyssynergia cerebellaris myoclonica of Hunt|progressive cerebellar tremor|cerebelloparenchymal disorder type 5|cerebelloparenchymal disorder V											UMLS:C0007761|ICD10:G11.1|EFO:1001053|SCTID:73495003|DOID:12707|OMIM:213400|MESH:D002527																		owl:Class
HGNC:10989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009088	biolink:NamedThing	deafness, neural, with atypical atopic dermatitis		mondoexuq1wtf	deafness, neural, with atypical atopic dermatitis											MESH:C565639|OMIM:221700|UMLS:C1857334																		owl:Class
HP:0000365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013033	biolink:NamedThing	cerebral palsy, spastic quadriplegic, 2	Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.	mondoexuq1wtf	cerebral palsy, spastic quadriplegic, type 2|cerebral palsy, spastic quadriplegic, 2|CPSQ2|spastic quadriplegia caused by mutation in KANK1|KANK1 spastic quadriplegia											UMLS:C2752061|MESH:C567867|OMIM:612900																		owl:Class
HGNC:19309	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001857	biolink:NamedThing	Brucella canis brucellosis	A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.	mondoexuq1wtf												DOID:14019|ICD9:023.3|UMLS:C0494040|ICD10:A23.3|SCTID:428174001																		owl:Class
MONDO:0006098	biolink:NamedThing	atypical lobular breast hyperplasia	Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.	mondoexuq1wtf	atypical lobular breast hyperplasia|atypical breast lobular hyperplasia|atypical lobular hyperplasia|atypical lobular hyperplasia of the breast|atypical lobular hyperplasia of breast|ALH											ICD9:610.8|EFO:1000100|SCTID:450697004|NCIT:C4730																		owl:Class
UBERON:0018140	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007607	biolink:NamedThing	Birt-Hogg-Dube syndrome	Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.	mondoexuq1wtf	fibrofolliculomas with trichodiscomas and acrochordons|BHD|Birt-Hogg-Dube syndrome|Hornstein-Knickenberg syndrome|Birt-Hogg-Dubé syndrome|BHD syndrome|Birt Hogg Dube syndrome											SCTID:110985001|UMLS:C0346010|NCIT:C28244|EFO:1001273|Orphanet:122|ICD9:704.8|DOID:0050676|OMIM:135150|MedDRA:10067736|GARD:0002322|MESH:D058249																		owl:Class
HGNC:27310	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000015322	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014073	biolink:NamedThing	dilated cardiomyopathy 1II	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.	mondoexuq1wtf	CRYAB familial isolated dilated cardiomyopathy|CMD1II|dilated cardiomyopathy type 1II|cardiomyopathy, dilated, 1II|cardiomyopathy, dilated, type 1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB											ICD10:I42.0|DOID:0110450|UMLS:C3554649|OMIM:615184																		owl:Class
MONDO:0000238	biolink:NamedThing	pestis minor	A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis.	mondoexuq1wtf	pestis minor|ambulatory plague|abortive plague|larval plague					Editor note: consider obsoleting						ICD9:020.8|SCTID:186287003|MEDGEN:546803|UMLS:C0275757																		owl:Class
HP:0012825	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:173087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002031	biolink:NamedThing	cecal disease	Pathological developments in the cecum.	mondoexuq1wtf	caecum disease or disorder|disease of caecum|disease or disorder of caecum|disorder of caecum|caecum disease											UMLS:C0007527|SCTID:128525008|MESH:D002429|DOID:1518																		owl:Class
UBERON:0001153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023138	biolink:NamedThing	Feingold trainer syndrome		mondoexuq1wtf	unusual facies, cleft palate, short stature, and intellectual disability|unusual facies, cleft palate, short stature, and mental retardation											UMLS:C2931126|MESH:C536179|GARD:0002282														https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome				owl:Class
MONDO:0014628	biolink:NamedThing	basal ganglia calcification, idiopathic, 6	Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.	mondoexuq1wtf	XPR1 bilateral striopallidodentate calcinosis|basal ganglia calcification, idiopathic, 6|basal ganglia calcification, idiopathic, type 6|IBGC6|bilateral striopallidodentate calcinosis caused by mutation in XPR1											OMIM:616413|UMLS:C4225335																		owl:Class
HGNC:12827	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3688	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008710	biolink:NamedThing	RAB23-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.	mondoexuq1wtf	ACPS 2|RAB23 Carpenter syndrome|acrocephalopolysyndactyly type 2|CARPENTER syndrome 1|Carpenter syndrome caused by mutation in RAB23|Carpenter syndrome|Carpenter syndrome type 1|CRPT1|Carpenter syndrome 1											SCTID:205813009|OMIM:201000																		owl:Class
HGNC:14263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002812	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016818	biolink:NamedThing	Mikati-Najjar-Sahli syndrome	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	mondoexuq1wtf	microcephaly-hypergonadotropic hypogonadism-short stature syndrome											Orphanet:2558|UMLS:CN202088|ICD10:E22.8																		owl:Class
GO:0030343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012132	biolink:NamedThing	colorectal cancer, susceptibility to, 1	Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.	mondoexuq1wtf	colorectal cancer, susceptibility to, on chromosome 9|colorectal cancer, susceptibility to, 1|susceptibility to colorectal cancer 1|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, type 1|GALNT12 colorectal cancer|CRCS1|colorectal cancer caused by mutation in GALNT12											OMIM:608812																		owl:Class
HGNC:19877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023693	biolink:NamedThing	maple syrup urine disease type 2	A maple syrup urine disease caused by mutations in DBT.	mondoexuq1wtf	MSUD type 2|MSUD2											GARD:0008596|HGNC:2698														https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2				owl:Class
HGNC:2698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033280	biolink:NamedThing	nephrotic syndrome 16		mondoexuq1wtf	nephrotic syndrome, type 16|NPHS16|nephrotic syndrome 16											DOID:0080272|UMLS:CN651336|OMIM:617783																		owl:Class
HGNC:29300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001154	biolink:NamedThing	Siberian tick typhus	A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.	mondoexuq1wtf	North Asian tick typhus|Manchurian typhus|Rickettsia sibirica spotted fever|North Asian tick fever (disorder) [ambiguous]|North Asian tick fever											SCTID:186781003|UMLS:C0549160|ICD10:A77.2|DOID:10921|ICD9:082.2																		owl:Class
NCBITaxon:35793	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013163	biolink:NamedThing	nephronophthisis-like nephropathy 1	Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.	mondoexuq1wtf	nephronophthisis (disease) caused by mutation in XPNPEP3|XPNPEP3 nephronophthisis (disease)|NPHPL1|nephronophthisis-like nephropathy 1|nephronophthisis-like nephropathy type 1											OMIM:613159|DOID:0111117|UMLS:C3150419																		owl:Class
HGNC:28052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012928	biolink:NamedThing	hereditary spastic paraplegia 42	Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	mondoexuq1wtf	autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|autosomal dominant spastic paraplegia type 42|hereditary spastic paraplegia type 42|SPG42|autosomal dominant spastic paraplegia 42|spastic paraplegia 42, autosomal dominant|SLC33A1 autosomal dominant pure spastic paraplegia											Orphanet:171863|SCTID:763070001|ICD10:G11.4|MESH:C567262|OMIM:612539|UMLS:C2675528|DOID:0110794																		owl:Class
HGNC:95	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014685	biolink:NamedThing	progressive myoclonic epilepsy type 9	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.	mondoexuq1wtf	epilepsy, progressive myoclonic, type 9|EPM9|LMNB2 progressive myoclonic epilepsy|PME type 9|epilepsy, progressive myoclonic, 9|progressive myoclonic epilepsy due to LMNB2 deficiency|progressive myoclonic epilepsy caused by mutation in LMNB2|progressive myoclonus epilepsy type 9											OMIM:616540|UMLS:C4225289|ICD10:G40.3|Orphanet:457265|DOID:0111450																		owl:Class
HGNC:6638	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001254	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003692	biolink:NamedThing	adult malignant mesenchymoma	A malignant mesenchymoma occurring in adults.	mondoexuq1wtf	malignant mesenchymoma of adults|adult malignant mesenchymoma|malignant mesenchymoma											DOID:5894|NCIT:C7947|UMLS:C0279548																		owl:Class
NCBITaxon:766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010747	biolink:NamedThing	X-linked dystonia-parkinsonism	X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.	mondoexuq1wtf	DYT-TAF1|DYT3|X-linked dystonia Parkinsonism|dystonia 3, torsion, X-linked|Lubag syndrome|torsion dystonia-Parkinsonism, Filipino type|X-linked torsion dystonia-Parkinsonism syndrome|Lubag|X-linked dystonia-Parkinsonism syndrome|dystonia-Parkinsonism, X-linked|XDP|X-linked dystonia-parkinsonism/Lubag											MESH:C564048|ICD10:G24.1|OMIM:314250|GARD:0010533|NCIT:C126330|DOID:0090057|SCTID:698279003|Orphanet:53351|UMLS:C1839130																		owl:Class
MONDO:0024503	biolink:NamedThing	digestive system neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).	mondoexuq1wtf	digestive system NET|digestive system neuroendocrine neoplasm|carcinoid tumor|gastro-enteropancreatic neuroendocrine tumor|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|digestive system neuroendocrine tumor|alimentary part of gastrointestinal system NET|gastrointestinal system neuroendocrine neoplasm|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of alimentary part of gastrointestinal system|GEP-NEN|neuroendocrine neoplasm of digestive system|alimentary part of gastrointestinal system neuroendocrine tumor|GEP tumors|gastroenteropancreatic endocrine tumor|gastrointestinal neuroendocrine neoplasm|carcinoid tumor of digestive system|alimentary part of gastrointestinal system neuroendocrine neoplasm|GEP-NET|gastroenteropancreatic neuroendocrine neoplasm											NCIT:C27721|Orphanet:100092|GARD:0002437|UMLS:CN197371|MESH:C535650														https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor				owl:Class
HGNC:11771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011819	biolink:NamedThing	spinocerebellar ataxia type 19/22	Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.	mondoexuq1wtf	spinocerebellar ataxia 19|SCA19|spinocerebellar ataxia 19 and 22|SCA19/22|spinocerebellar ataxia type 19|spinocerebellar ataxia 22											OMIM:607346|MESH:C542540|MESH:C537198|DOID:0050970|ICD10:G11.2|GARD:0012365|SCTID:719251009|Orphanet:98772																		owl:Class
GO:0047291	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011245	biolink:NamedThing	ichthyosis, hystrix-like, with deafness		mondoexuq1wtf	Hid syndrome|ichthyosis, hystrix-like, with deafness											OMIM:602540|MESH:C566528|UMLS:C1865234																		owl:Class
MONDO:0013899	biolink:NamedThing	Weill-Marchesani syndrome 3	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.	mondoexuq1wtf	Weill-Marchesani syndrome 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome type 3|WMS3|Weill-Marchesani syndrome caused by mutation in LTBP2											OMIM:614819|UMLS:C3553785																		owl:Class
MONDO:0010437	biolink:NamedThing	severe X-linked mitochondrial encephalomyopathy	Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	mondoexuq1wtf	COXPD6|combined oxidative phosphorylation deficiency 6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|encephalomyopathy, mitochondrial, X-linked|mitochondrial encephalomyopathy due to COXPD6|combined oxidative phosphorylation deficiency type 6											DOID:0111502|SCTID:722212004|OMIM:300816|UMLS:C3151753|UMLS:C4302745|ICD10:G31.8|Orphanet:238329																		owl:Class
MONDO:0044632	biolink:NamedThing	extracranial carotid artery aneurysm		mondoexuq1wtf	ECAA|Ecca											Orphanet:494424																		owl:Class
MONDO:0005416	biolink:NamedThing	osteoarthritis, knee	Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)	mondoexuq1wtf												EFO:0004616|COHD:4079750|MESH:D020370																		owl:Class
MONDO:0003040	biolink:NamedThing	retrograde amnesia	The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.	mondoexuq1wtf												COHD:4198081|ICD10:R41.2|DOID:4543|MESH:D000648																		owl:Class
MONDO:0100146	biolink:NamedThing	ATP6AP2-related disorder	Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0017519	biolink:NamedThing	symbrachydactyly of hand and foot, unilateral		mondoexuq1wtf												ICD10:Q73.8|UMLS:CN203252|Orphanet:295136																		owl:Class
MONDO:0015516	biolink:NamedThing	symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.	mondoexuq1wtf	De Smet-Fabry-Fryns syndrome											Orphanet:1570|ICD10:Q73.8																		owl:Class
MONDO:0021508	biolink:NamedThing	benign neoplasm of epicardium	A benign neoplasm that involves the epicardium.	mondoexuq1wtf	epicardium benign neoplasm|benign tumor of epicardium|benign epicardial neoplasm|benign epicardial tumor|benign neoplasm of the epicardium|benign tumor of the epicardium											SCTID:92087008|UMLS:C0685115|NCIT:C8535																		owl:Class
MONDO:0005906	biolink:NamedThing	peritonsillar abscess	An abscess that develops in the space surrounding one or both palatine tonsils.	mondoexuq1wtf	quinsy											SCTID:15033003|EFO:0007429|ICD9:475|MESH:D000039|NCIT:C128322|COHD:440751|UMLS:C0031157|ICD10:J36																		owl:Class
MONDO:0005599	biolink:NamedThing	malignant epithelioid mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.	mondoexuq1wtf	epithelioid mesothelioma, malignant (morphologic abnormality)|epithelioid mesothelioma, malignant|epithelioid mesothelioma|epithelial mesothelioma|malignant epithelial mesothelioma											EFO:0006452|NCIT:C7985|UMLS:C0862312|ICDO:9052/3|DOID:4489																		owl:Class
MONDO:0011516	biolink:NamedThing	early response to neural induction gene		mondoexuq1wtf	Erni|early response to neural induction gene											OMIM:605105																		owl:Class
MONDO:0008714	biolink:NamedThing	acrofacial dysostosis Rodriguez type	Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.	mondoexuq1wtf	acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis syndrome of Rodriguez|acrofacial dysostosis, Rodríguez type|Rodriguez lethal acrofacial dysostosis syndrome											OMIM:201170|DOID:0060383|SCTID:720430002|Orphanet:1788|MESH:C538183|UMLS:C1860119|GARD:0000496|ICD10:Q75.4														https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type				owl:Class
MONDO:0005910	biolink:NamedThing	phagocyte bactericidal dysfunction	Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.	mondoexuq1wtf	phagocytic dysfunction					Editor note: consider merging						EFO:0007433|UMLS:C0031306|MESH:D010585|DOID:3262																		owl:Class
MONDO:0006411	biolink:NamedThing	sinonasal undifferentiated carcinoma	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.	mondoexuq1wtf	Sinonasal anaplastic carcinoma|SNUC|undifferentiated Sinonasal cancer|sinonasal undifferentiated carcinoma|highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses											SCTID:697993003|EFO:1000527|UMLS:C1710096|GARD:0009249|MESH:C537344|ONCOTREE:SNUC|NCIT:C54294														https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma				owl:Class
MONDO:0001724	biolink:NamedThing	supraglottis cancer	A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	mondoexuq1wtf	malignant supraglottic neoplasm|supraglottic part of larynx cancer|malignant neoplasm of supraglottic part of larynx|Ca larynx - supraglottis|malignant neoplasm of extrinsic larynx|malignant supraglottis neoplasm|malignant supraglottic tumor|malignant neoplasm of the supraglottis|malignant neoplasm of supraglottis|malignant tumor of supraglottis|malignant tumor of the supraglottis|malignant supraglottic part of larynx neoplasm|cancer of supraglottic part of larynx|malignant supraglottis tumor											SCTID:187842004|ICD10:C32.1|COHD:4092212|ICD9:161.1|UMLS:C0153484|DOID:13476|NCIT:C3545								supraglottis										owl:Class
MONDO:0019861	biolink:NamedThing	thyroid hypoplasia	Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	mondoexuq1wtf												MedDRA:10065938|Orphanet:95720|ICD10:E03.1																		owl:Class
MONDO:0020082	biolink:NamedThing	dendritic cell tumor	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.	mondoexuq1wtf	Dendritic cell tumor, NOS|Dendritic cell tumor, Not otherwise specified|Dendritic cell sarcoma, Not otherwise specified|Dendritic cell sarcoma, NOS|Dendritic cell neoplasm											Orphanet:98289|SCTID:737223000|UMLS:CN206984|ICD10:C96.4|GARD:0008317														https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor				owl:Class
MONDO:0002387	biolink:NamedThing	liver angiosarcoma	A malignant vascular neoplasm arising from the liver.	mondoexuq1wtf	liver angiosarcoma (disease)|primary angiosarcoma of the liver|hepatic angiosarcoma|hepatic hemangiosarcoma|angiosarcoma of liver|hemangiosarcoma of liver|Lias|liver hemangiosarcoma|angiosarcoma (disease) of liver|angiosarcoma of the liver|liver angiosarcoma|primary angiosarcoma of liver|hemangiosarcoma of the liver											ICD10:C22.3|GARD:0005813|ICDO:9124/3|ONCOTREE:LIAS|NCIT:C4438|SCTID:109844006|DOID:268|UMLS:C0345907														https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver				owl:Class
MONDO:0002397	biolink:NamedThing	liver sarcoma	A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.	mondoexuq1wtf	sarcoma of liver|sarcoma of the liver|hepatic sarcoma|liver sarcoma											NCIT:C4437|DOID:270|UMLS:C0345906|SCTID:254601002																		owl:Class
MONDO:0007068	biolink:NamedThing	adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.	mondoexuq1wtf	inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|ADSL deficiency|ADSLD|Adsl deficiency|adenylosuccinase deficiency|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinate lyase deficiency|adenylosuccinase lyase deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity											SCTID:15285008|Orphanet:46|MESH:C538235|OMIM:103050|GARD:0000550|ICD9:277.2|ICD10:E79.8|UMLS:C0268126|DOID:0050762																		owl:Class
MONDO:0016095	biolink:NamedThing	vaginal rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.	mondoexuq1wtf	vagina rhabdomyosarcoma|vulvovaginal rhabdomyosarcoma|vaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vagina rhabdomyosarcoma (disease)											UMLS:C4288035|ICD10:C52|Orphanet:206492|SCTID:766759009|NCIT:C128080																		owl:Class
MONDO:0016587	biolink:NamedThing	arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.	mondoexuq1wtf	arrhythmogenic RVD|arrhythmogenic right ventricular dysplasia|ARVC cardiomyopathy|ARVC|right ventricular dysplasia|ARVD|arrhythmogenic right ventricular dysplasia/cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy											ICD9:425.4|ICD10:I42.8|MedDRA:10058093|SCTID:281170005|NCIT:C84571|DOID:0050431|UMLS:CN239850|Orphanet:247|UMLS:C0349788|MESH:D019571|GARD:0005847|UMLS:CN221565																		owl:Class
MONDO:0020644	biolink:NamedThing	lung non-Hodgkin lymphoma	A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.	mondoexuq1wtf	non-Hodgkin lymphoma of lung|lung non-Hodgkin's lymphoma|lung non-Hodgkin lymphoma|primary lung non-Hodgkin's lymphoma											NCIT:C5684|UMLS:C1334453																		owl:Class
MONDO:0010335	biolink:NamedThing	X-linked cone-rod dystrophy 3		mondoexuq1wtf	X-linked cone-rod dystrophy type 3|cone-rod dystrophy, X-linked, 3|cone-rod dystrophy X-linked 3|CORDX3|cone-rod dystrophy, X-linked, type 3											GARD:0010654|MESH:C564507|DOID:0111007|OMIM:300476														https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3				owl:Class
MONDO:0021155	biolink:NamedThing	X-linked cone-rod dystrophy	X-linked form of cone-rod dystrophy.	mondoexuq1wtf	cone-rod dystrophy, X-linked																													owl:Class
MONDO:0006882	biolink:NamedThing	orchitis	Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.	mondoexuq1wtf	inflammation of testis|testisitis|Inflammation of testis|Orchititis|testis inflammation|orchitis|orchitis (disease)		orchitis (disease)									HP:0100796|DOID:2518|MESH:D009920|MedDRA:10031064|EFO:1001078|SCTID:274718005|NCIT:C97145|ICD10:N45.2|UMLS:C0029191																		owl:Class
MONDO:0012601	biolink:NamedThing	autism, susceptibility to, 10		mondoexuq1wtf	autism, susceptibility to, 10|AUTS10											OMIM:611016																		owl:Class
MONDO:0004160	biolink:NamedThing	female stress incontinence	The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.	mondoexuq1wtf	female urinary stress incontinence|stress incontinence - female											NCIT:C35042|COHD:195007|ICD9:625.6|DOID:724|UMLS:C0038437																		owl:Class
MONDO:0006923	biolink:NamedThing	Bacillaceae infectious disease	Infections with bacteria of the family bacillaceae.	mondoexuq1wtf	Bacillaceae infection|Bacillaceae caused disease or disorder|Bacillaceae disease or disorder|infections, Bacillaceae|infection, Bacillaceae											EFO:1001124|UMLS:C0085389|MESH:D016863																		owl:Class
MONDO:0010409	biolink:NamedThing	syndromic X-linked intellectual disability Shrimpton type	X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.	mondoexuq1wtf	intellectual disability, X-linked, syndromic 9|MRXS9|mental retardation, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type											ICD10:Q87.8|UMLS:C2678039|OMIM:300709|MESH:C567474|DOID:0060813|Orphanet:85324																		owl:Class
MONDO:0007279	biolink:NamedThing	cataract 7	A cataract that has material basis in variation in the region 17q24.	mondoexuq1wtf	CCA1|cataract type 7|cataract 7|cataract, congenital, cerulean type, 1|cerulean type cataract 7|CTRCT7|cataract 7, cerulean type|congenital cerulean type cataract 1											ICD10:Q12.0|OMIM:115660|DOID:0110260																		owl:Class
MONDO:0009882	biolink:NamedThing	plasma clot retraction factor, deficiency of		mondoexuq1wtf	plasma clot retraction factor, deficiency of											UMLS:C1849778|MESH:C564885|OMIM:262800																		owl:Class
MONDO:0019615	biolink:NamedThing	pituitary dermoid and epidermoid cysts		mondoexuq1wtf												Orphanet:91351																		owl:Class
MONDO:0008931	biolink:NamedThing	Cenani-Lenz syndactyly syndrome	Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	mondoexuq1wtf	syndactyly type 7|Cenani syndactyly|CLSS|Cenani-Lenz syndactyly syndrome|Cenani-Lenz syndrome|Cenani-Lenz syndactyly|syndactyly, type 7|Cenani-Lenz type syndactyly|Cenani syndactylism|syndactyly Cenani Lenz type											ICD10:Q78.4|MESH:C538150|OMIM:212780|DOID:0090015|SCTID:720633009|UMLS:C1859309|Orphanet:3258|GARD:0005084																		owl:Class
MONDO:0006405	biolink:NamedThing	salivary gland small cell carcinoma	An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.	mondoexuq1wtf	saliva-secreting gland small cell carcinoma|salivary gland anaplastic small cell carcinoma|neuroendocrine carcinoma of the salivary gland|anaplastic small cell carcinoma of salivary gland|salivary gland neuroendocrine carcinoma|small cell salivary gland carcinoma|small cell carcinoma of saliva-secreting gland|anaplastic small cell carcinoma of the salivary gland|neuroendocrine carcinoma of salivary gland|salivary gland small cell carcinoma											EFO:1000519|NCIT:C35703|UMLS:C1335982																		owl:Class
MONDO:0013251	biolink:NamedThing	Birbeck granule deficiency		mondoexuq1wtf	Birbeck granule deficiency|Birbeck granules, absence of											OMIM:613393|UMLS:C3150657																		owl:Class
MONDO:0008973	biolink:NamedThing	chondrodysplasia punctata, Toriello type	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	mondoexuq1wtf	Toriello-Higgins-Miller syndrome|chondrodysplasia punctata syndrome											ICD10:Q77.3|SCTID:715631005|OMIM:215105|MESH:C565853|Orphanet:79347																		owl:Class
MONDO:0013218	biolink:NamedThing	exudative vitreoretinopathy 5	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.	mondoexuq1wtf	exudative vitreoretinopathy type 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5|EVR5|exudative vitreoretinopathy caused by mutation in TSPAN12											OMIM:613310|DOID:0111408|UMLS:C2750079|MESH:C567648																		owl:Class
MONDO:0003602	biolink:NamedThing	intracranial liposarcoma	A malignant adipose tissue neoplasm of the intracranial region.	mondoexuq1wtf												UMLS:C1334242|DOID:5714|NCIT:C6973																		owl:Class
MONDO:0006356	biolink:NamedThing	parotid gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	mondoexuq1wtf	parotid gland adenoid cystic carcinoma|adenoid cystic carcinoma of parotid gland|adenoid cystic carcinoma of the parotid gland|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid											EFO:1000459|SCTID:423615009|NCIT:C5937|UMLS:C1335355|DOID:0050931																		owl:Class
MONDO:0021331	biolink:NamedThing	carcinoma of parotid gland	A carcinoma that involves the parotid gland.	mondoexuq1wtf	parotid gland carcinoma|carcinoma of parotid gland|carcinoma of parotid|parotid gland cancer|carcinoma of the parotid gland|carcinoma of the parotid|parotid carcinoma											EFO:1000460|UMLS:C0345602|SCTID:254462001|NCIT:C6791																		owl:Class
MONDO:0009249	biolink:NamedThing	hereditary fructose intolerance	Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.	mondoexuq1wtf	fructosemia|hereditary fructosemia|fructose-1,6-bisphosphate aldolase B deficiency|Fructosaemia|aldolase B deficiency|hereditary fructose-1-phosphate aldolase deficiency|fructose intolerance, hereditary|Aldob deficiency|fructose intolerance|hereditary fructose intolerance syndrome|fructose-1-phosphate aldolase deficiency											NCIT:C84720|SCTID:20052008|DOID:9869|GARD:0006622|OMIM:229600|Orphanet:469|UMLS:C0016751|ICD9:271.2|MedDRA:10019878|ICD10:E74.1|ICD10:E74.12																		owl:Class
MONDO:0006806	biolink:NamedThing	intermediate uveitis	Inflammation of the pars plana.	mondoexuq1wtf	intermediate uveitis|IU|pars planitis|chronic cyclitis|intermediate uveitis (disease)|peripheral uveoretinitis		intermediate uveitis (disease)									Orphanet:279914|SCTID:314429009|EFO:1000986|MedDRA:10022557|UMLS:C0042166|HP:0012124|ICD10:H30.2|DOID:12732|MESH:D015867|NCIT:C35110																		owl:Class
MONDO:0018678	biolink:NamedThing	polyclonal hyperviscosity syndrome		mondoexuq1wtf												Orphanet:450322|ICD10:D89.0|UMLS:CN237743																		owl:Class
MONDO:0030916	biolink:NamedThing	intellectual disability, autosomal dominant 50		mondoexuq1wtf	mental retardation, autosomal dominant 50|intellectual disability, autosomal dominant 50|MRD50|autosomal dominant mental retardation 50|autosomal dominant intellectual disability 50											UMLS:CN671930|DOID:0080233|OMIM:617787																		owl:Class
MONDO:0060533	biolink:NamedThing	microcephaly, short stature, and limb abnormalities		mondoexuq1wtf	MISSLA|microcephaly, short stature, and limb abnormalities											OMIM:617604|UMLS:C4539873																		owl:Class
MONDO:0023059	biolink:NamedThing	Elliott ludman Teebi syndrome		mondoexuq1wtf	multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs											MESH:C536204|UMLS:C2931128|GARD:0000189														https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome				owl:Class
MONDO:0015872	biolink:NamedThing	giant adenofibroma of the breast	Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.	mondoexuq1wtf												UMLS:CN200476|ICD10:D24|Orphanet:180267																		owl:Class
MONDO:0000955	biolink:NamedThing	ileum cancer	A malignant neoplasm involving the ileum	mondoexuq1wtf	malignant ileum neoplasm|malignant neoplasm of ileum|ileum cancer|cancer of ileum											DOID:10153|ICD9:152.2|ICD10:C17.2																		owl:Class
MONDO:0009003	biolink:NamedThing	achromatopsia 2	Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.	mondoexuq1wtf	CNGA3 achromatopsia|achromatopsia 2|RMCH2|achromatopsia caused by mutation in CNGA3|Rod monochromatism 2|rod monochromatism 2|Rod monochromacy 2|achromatopsia type 2|ACHM2|colorblindness, total|rod monochromacy 2											OMIM:216900|GARD:0009649|UMLS:C1857618|DOID:0110007														https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2				owl:Class
MONDO:0009853	biolink:NamedThing	Imerslund-Grasbeck syndrome	Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.	mondoexuq1wtf	Gräsbeck-Imerslund disease|Imerslund-Grasbeck syndrome|selective cobalamin malabsorption with proteinuria|defect of enterocyte intrinsic factor receptor|juvenile megaloblastic Anemia|familial megaloblastic anemia|Imerslund-Gräsbeck syndrome|enterocyte cobalamin malabsorption											OMIMPS:261100|ICD9:281.3|GARD:0007006|Orphanet:35858|ICD10:D51.1|SCTID:360495000																		owl:Class
MONDO:0017738	biolink:NamedThing	lysosomal glycogen storage disease		mondoexuq1wtf												ICD10:E74.0|Orphanet:309337|UMLS:CN203642																		owl:Class
CL:0000094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019485	biolink:NamedThing	idiopathic hemiconvulsion-hemiplegia syndrome	A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.	mondoexuq1wtf	hemiconvulsion-hemiplegia-epilepsy syndrome|HHE syndrome|IHHS											SCTID:230407006|ICD10:G40.4|Orphanet:86908																		owl:Class
MONDO:0008924	biolink:NamedThing	congenital cataract-ichthyosis syndrome	Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.	mondoexuq1wtf	cataract and congenital ichthyosis|Syndermotic cataract and congenital ichthyosis											UMLS:C1859315|GARD:0001145|OMIM:212400|Orphanet:1376|MESH:C538281																		owl:Class
MONDO:0003562	biolink:NamedThing	rete testis neoplasm	A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.	mondoexuq1wtf	rete testis neoplasm (disease)|neoplasm of rete testis|rete testis tumor|tumor of rete testis|rete testis neoplasm											UMLS:C1514912|NCIT:C39955|DOID:5639																		owl:Class
MONDO:0006255	biolink:NamedThing	intimal sarcoma	A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.	mondoexuq1wtf	INTS											NCIT:C53677|ONCOTREE:INTS|EFO:1000305|UMLS:C1708550																		owl:Class
MONDO:0010405	biolink:NamedThing	prostate cancer, hereditary, X-linked 2		mondoexuq1wtf	prostate cancer, hereditary, X-linked 2|HPCX2											UMLS:C2678047|MESH:C567477|OMIM:300704																		owl:Class
MONDO:0008898	biolink:NamedThing	camptodactyly syndrome, Guadalajara type 1	Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	mondoexuq1wtf	camptodactyly syndrome Guadalajara type 1|camptodactyly syndrome, Guadalajara, type 1|faciothoracoskeletal syndrome|FTSS|GCS1|camptodactyly syndrome, Guadalajara, type I|GCS 1											MESH:C537970|UMLS:C1859359|GARD:0001067|ICD10:Q87.1|Orphanet:1327|OMIM:211910|SCTID:720602007														https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1				owl:Class
MONDO:0015696	biolink:NamedThing	Good syndrome	Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.	mondoexuq1wtf	thymoma with hypogammaglobulinemia|immunodeficiency with thymoma|thymoma-immunodeficiency syndrome|thymoma-immunodeficiency											Orphanet:169105|SCTID:9893005|GARD:0008622|DOID:0060028|UMLS:C0221027																		owl:Class
MONDO:0015927	biolink:NamedThing	idiopathic eosinophilic pneumonia		mondoexuq1wtf												ICD10:J82|SCTID:708031000|UMLS:C3872845|Orphanet:182101																		owl:Class
MONDO:0017033	biolink:NamedThing	primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder		mondoexuq1wtf	primary ILD in childhood and adulthood due to alveolar vascular disorder											Orphanet:264935|UMLS:CN202345																		owl:Class
MONDO:0100245	biolink:NamedThing	acquired paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.	mondoexuq1wtf	Marchiafava-Micheli disease|paroxysmal hemoglobinuria|PNH							http://orcid.org/0000-0001-5208-3432				MedDRA:10034042|GARD:0007337|HP:0004818|UMLS:C0024790|NCIT:C61233|ICD10:D59.6|ICD10:D59.1|Orphanet:447|UMLS:C0019050|ICD10:D59.5|HGNC:8957|SCTID:1963002|DOID:0060284														https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria				owl:Class
MONDO:0020745	biolink:NamedThing	autosomal dominant cardiac arrhythmia (Kuhn)		mondoexuq1wtf	extrasystoles|cardiac arrhythmia											OMIM:115000																		owl:Class
MONDO:0009681	biolink:NamedThing	Ullrich congenital muscular dystrophy 1		mondoexuq1wtf	Ullrich congenital muscular dystrophy|UCMD1|muscular dystrophy, Scleroatonic|Ullrich disease|Ullrich congenital muscular dystrophy type 1|Ullrich Scleroatonic muscular dystrophy|Ullrich congenital muscular dystrophy 1											OMIM:254090|UMLS:CN033863																		owl:Class
MONDO:0100225	biolink:NamedThing	collagen 6-related myopathy	A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.	mondoexuq1wtf	collagen VI-related muscle disorder|collagen VI-related muscular dystrophy|collagen VI-related myopathy							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0018390	biolink:NamedThing	male infertility due to sperm disorder		mondoexuq1wtf												UMLS:CN227338|ICD10:N46|Orphanet:399771																		owl:Class
MONDO:0005161	biolink:NamedThing	human papilloma virus infection	An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.	mondoexuq1wtf	Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human papillomavirus disease or disorder|Human papilloma Virus infection|Human Papillomavirus infection											NCIT:C27851|COHD:441788|ICD9:079.4|SCTID:240532009|UMLS:C0343641|EFO:0001668																		owl:Class
MONDO:0010739	biolink:NamedThing	Taqi polymorphism		mondoexuq1wtf	Taqi polymorphism|TaqI polymorphism|TAQ1											OMIM:313480																		owl:Class
MONDO:0003463	biolink:NamedThing	ovarian endometrioid adenofibroma	A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.	mondoexuq1wtf	ovarian endometrioid adenofibroma											DOID:5480|ICDO:8381/0|NCIT:C27287|UMLS:C2212024|ICDO:8380/0																		owl:Class
MONDO:0011787	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2I	Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.	mondoexuq1wtf	limb-girdle muscular dystrophy due to FKRP deficiency|muscular dystrophy limb-girdle type 2I|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|muscular dystrophy, limb-girdle, type 2I|limb-girdle muscular dystrophy type 2I|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|FKRP autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|LGMD-FKRP related|LGMD2I|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|MDDGC5											SCTID:718180000|MESH:C564612|ICD10:G71.0|DOID:0110299|OMIM:607155|Orphanet:34515|GARD:0012533|NCIT:C126739																		owl:Class
MONDO:0016156	biolink:NamedThing	qualitative or quantitative defects of FKRP		mondoexuq1wtf												Orphanet:207119																		owl:Class
MONDO:0012505	biolink:NamedThing	pigmented nodular adrenocortical disease, primary, 2	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.	mondoexuq1wtf	PPNAD2|pigmented nodular adrenocortical disease, primary, 2|Cushing syndrome, adrenal, due to PPNAD2|pigmented nodular adrenocortical disease, primary, type 2|PDE11A primary pigmented nodular adrenocortical disease|pigmented micronodular adrenocortical disease, primary, 2|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A											MESH:C566472|UMLS:C1864851|OMIM:610475																		owl:Class
MONDO:0014976	biolink:NamedThing	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.	mondoexuq1wtf	combined oxidative phosphorylation deficiency type 31|combined oxidative phosphorylation deficiency caused by mutation in MIPEP|combined oxidative phosphorylation deficiency 31|MIPEP combined oxidative phosphorylation deficiency|COXPD31											DOID:0111488|Orphanet:478049|OMIM:617228|UMLS:C4310661																		owl:Class
MONDO:0001731	biolink:NamedThing	benign vaginal mixed epithelial and mesenchymal neoplasm	A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.	mondoexuq1wtf	benign vaginal mixed epithelial and mesenchymal tumor|benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal neoplasm											DOID:135|NCIT:C40275|UMLS:C1511106																		owl:Class
MONDO:0000647	biolink:NamedThing	benign vaginal neoplasm	A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.	mondoexuq1wtf	benign vaginal neoplasms|benign vaginal neoplasm|vaginal benign neoplasm|benign neoplasm of vagina|benign vaginal tumor|benign tumor of the vagina|benign neoplasm of the vagina|benign tumor of vagina|vagina benign neoplasm|vagina female reproductive organ benign neoplasm											DOID:0060114|ICD9:221.1|COHD:201244|UMLS:C0154002|NCIT:C3610|SCTID:92473001																		owl:Class
MONDO:0005667	biolink:NamedThing	biliary dyskinesia	A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.	mondoexuq1wtf	sphincter of Oddi dysfunction					Editor note: consider ciliary classification						DOID:4140|MESH:D001657|UMLS:C0005416|EFO:0007169|HP:0012396|ICD9:575.8|SCTID:197432008																		owl:Class
MONDO:0002859	biolink:NamedThing	breast rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.	mondoexuq1wtf	rhabdomyosarcoma of the breast|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma (disease)|rhabdomyosarcoma of breast|breast rhabdomyosarcoma											UMLS:C1332637|NCIT:C5190|DOID:4060																		owl:Class
MONDO:0022587	biolink:NamedThing	bone dysplasia corpus callosum agenesis		mondoexuq1wtf												GARD:0000921														https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis				owl:Class
MONDO:0020776	biolink:NamedThing	chlamydiaceae infections	Infections with bacteria of the family CHLAMYDIACEAE.	mondoexuq1wtf	Chlamydiaceae Infections|Infection, Chlamydiaceae|Infections, Chlamydiaceae|Chlamydiaceae Infection											UMLS:C0008153|EFO:1001288|MESH:D002694																		owl:Class
MONDO:0009110	biolink:NamedThing	dicarboxylic aminoaciduria	Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.	mondoexuq1wtf	dicarboxylic aminoaciduria|DCBXA|glutamate-aspartate Transport defect|glutamate-aspartate transport defect|Dicarboxylicaminoaciduria											GARD:0001855|DOID:0060650|SCTID:716747007|OMIM:222730|UMLS:C1857253|ICD10:E72.0|MESH:C536171|Orphanet:2195														https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria				owl:Class
MONDO:0045004	biolink:NamedThing	skeletal ligament disease	A disease or disorder that involves the skeletal ligament.	mondoexuq1wtf	disease or disorder of skeletal ligament|disorder of skeletal ligament|skeletal ligament disease or disorder|disease of skeletal ligament																													owl:Class
MONDO:0100063	biolink:NamedThing	Pericytoma with t(7;12)	A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.	mondoexuq1wtf	Pericytoma t(7;12)				2018-11-09 22:50:48+00:00																									owl:Class
MONDO:0018888	biolink:NamedThing	congenital cornea plana		mondoexuq1wtf												ICD10:Q13.4|Orphanet:53691																		owl:Class
MONDO:0003232	biolink:NamedThing	alcoholic pancreatitis	Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.	mondoexuq1wtf	alcoholic pancreatitis											EFO:1002013|DOID:4988|MESH:D019512|UMLS:C0376670|SCTID:445507008																		owl:Class
MONDO:0007409	biolink:NamedThing	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	Tonoki Ohura Niikawa syndrome|Cryptomicrotia-brachydactyly syndrome|CRYPTOMICROTIA-brachydactyly syndrome|Tonoki-Ohura-Niikawa syndrome|Cryptomicrotia brachydactyly syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch|Cryptomicrotia brachydactyly syndrome excess fingertip arch											Orphanet:1547|GARD:0008174|OMIM:123560|MESH:C536219|ICD10:Q87.8|SCTID:725096002|UMLS:C1852454																		owl:Class
MONDO:0000910	biolink:NamedThing	retinitis pigmentosa 6	A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.	mondoexuq1wtf	RP 6|retinitis pigmentosa 6|RP6|retinitis pigmentosa, X-linked recessive, 6|retinitis pigmentosa type 6											MESH:C564065|GARD:0010377|ICD10:H35.5|DOID:0110413|UMLS:C1839368|OMIM:312612														https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6				owl:Class
MONDO:0015454	biolink:NamedThing	multiple carboxylase deficiency	Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.	mondoexuq1wtf	MCD|multiple carboxylase deficiency											GARD:0003824|ICD10:D81.81|DOID:857|MESH:D009100|UMLS:C0026755|MedDRA:10028176|Orphanet:148|ICD10:D81.819|ICD10:E53.8																		owl:Class
MONDO:0100016	biolink:NamedThing	early-onset generalized dystonia		mondoexuq1wtf	early-onset, generalized dystonia with mild syndromic features|DYT-KMT2B|early-onset generalized isolated dystonia|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.				2018-05-25 20:53:07+00:00																									owl:Class
MONDO:0018303	biolink:NamedThing	generalized isolated dystonia		mondoexuq1wtf						Editor note: consider merging with generalized dystonia if no complex forms						ICD10:G24.1|Orphanet:376724																		owl:Class
MONDO:0040698	biolink:NamedThing	subacute bursitis		mondoexuq1wtf	subacute bursitis											SCTID:109298000|UMLS:C1290159																		owl:Class
MONDO:0006773	biolink:NamedThing	gonadal tissue neoplasm	Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.	mondoexuq1wtf												UMLS:C0206722|EFO:1000953|MESH:D018309																		owl:Class
MONDO:0014237	biolink:NamedThing	autosomal recessive nonsyndromic deafness 76	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.	mondoexuq1wtf	SYNE4 autosomal recessive nonsyndromic deafness|DFNB76|deafness, autosomal recessive type 76|autosomal recessive deafness 76|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4|autosomal recessive nonsyndromic deafness type 76|deafness, autosomal recessive 76											ICD10:H90.3|OMIM:615540|DOID:0110524|UMLS:C3147083																		owl:Class
MONDO:0011554	biolink:NamedThing	deafness, nonsyndromic, modifier 1		mondoexuq1wtf	deafness, autosomal recessive 26, modifier of|deafness, autosomal recessive 26, modifier OF|DFNB26M|deafness, nonsyndromic, modifier Of, 1|DFNM1|deafness, nonsyndromic, modifier 1|Dfnb26, suppressor of|Dfnb26, modifier of											OMIM:605429																		owl:Class
MONDO:0015714	biolink:NamedThing	secondary central precocious puberty		mondoexuq1wtf												ICD10:E22.8|UMLS:CN200226|Orphanet:169618																		owl:Class
MONDO:0006463	biolink:NamedThing	thyroid gland mucoepidermoid carcinoma	A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.	mondoexuq1wtf	mucoepidermoid thyroid carcinoma|mucoepidermoid thyroid gland carcinoma|thyroid gland mucoepidermoid carcinoma											NCIT:C38762|EFO:1000590|UMLS:C1513721|DOID:4687																		owl:Class
MONDO:0016315	biolink:NamedThing	mucopolysaccharidosis type 2, severe form	Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.	mondoexuq1wtf	Hunter syndrome type A|iduronate 2-sulfatase deficiency type A|mucopolysaccharidosis type IIA|MPS2A|mucopolysaccharidosis type 2A|MPSIIA|mucopolysaccharidosis type II, severe form											SCTID:73146005|UMLS:CN201131|Orphanet:217085|ICD10:E76.1																		owl:Class
MONDO:0017901	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal recessive MSMD due to partial IFNgammaR1 deficiency											Orphanet:319569|UMLS:CN203960|ICD10:D84.8																		owl:Class
MONDO:0017898	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency.	mondoexuq1wtf	mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive|autosomal recessive MSMD due to a partial deficiency											ICD10:D84.8|Orphanet:319539|UMLS:CN203954																		owl:Class
MONDO:0013203	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 3	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.	mondoexuq1wtf	corneal dystrophy, Fuchs endothelial, late-onset|Fcd2 locus|FECD3|TCF4 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in TCF4|corneal dystrophy, Fuchs endothelial, 3|corneal dystrophy, Fuchs endothelial, type 3											UMLS:C2750451|OMIM:613267																		owl:Class
MONDO:0008819	biolink:NamedThing	arteriosclerosis, severe juvenile		mondoexuq1wtf	arteriosclerosis, severe juvenile											MESH:C565941|OMIM:208060|UMLS:C1859725																		owl:Class
MONDO:0016014	biolink:NamedThing	fetal minoxidil syndrome	Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.	mondoexuq1wtf	minoxidil antenatal exposure|minoxidil antenatal infection											SCTID:254251003|ICD9:760.79|Orphanet:1918|UMLS:C0432373|ICD10:Q86.8|GARD:0002308														https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome				owl:Class
MONDO:0018456	biolink:NamedThing	polyarticular juvenile idiopathic arthritis		mondoexuq1wtf	juvenile polyarthritis|polyarticular JIA|juvenile polyarticular arthritis											Orphanet:404580|SCTID:16044751000119106|EFO:1002020																		owl:Class
MONDO:0100052	biolink:NamedThing	acetazolamide-responsive hereditary episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.	mondoexuq1wtf					2018-07-25 17:53:07+00:00																									owl:Class
MONDO:0001454	biolink:NamedThing	Blessig's cysts		mondoexuq1wtf	Iwanoff's cysts|Blessig cysts|Microcystoid retinal degeneration|Microcystoid degeneration of retina											UMLS:C0154855|DOID:12164|ICD9:362.62|SCTID:37075008|ICD10:H35.42																		owl:Class
MONDO:0009523	biolink:NamedThing	Lichtenstein syndrome	Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.	mondoexuq1wtf	neutropenia immunoglobulin deficiency peculiar facies and bony anomalies|Lichtenstein syndrome											SCTID:763668009|MESH:C535894|GARD:0003248|OMIM:246550|Orphanet:2390|UMLS:C1855502														https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome				owl:Class
MONDO:0000276	biolink:NamedThing	Powassan encephalitis	A disease caused by infection with Powassan virus.	mondoexuq1wtf	Powassan virus caused disease or disorder|Powassan virus infectious disease|encephalitis, powassan|powassan encephalitis virus infection|Powassan virus disease or disorder											DOID:0050179|UMLS:C0032858|SCTID:416707008|UMLS:C1563215|ICD9:063.8																		owl:Class
MONDO:0022892	biolink:NamedThing	craniosynostosis alopecia brain defect		mondoexuq1wtf												GARD:0001586														https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect				owl:Class
MONDO:0010432	biolink:NamedThing	thrombophilia, X-linked, due to factor 9 defect	A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).	mondoexuq1wtf	thrombophilia, X-linked, due to factor IX defect|THPH8|deep Venous thrombosis, protection against											MESH:C567581|UMLS:C2749016|OMIM:300807																		owl:Class
MONDO:0012023	biolink:NamedThing	autosomal dominant nonsyndromic deafness 49	An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.	mondoexuq1wtf	deafness, autosomal dominant 49|autosomal dominant deafness 49|autosomal dominant nonsyndromic deafness type 49|DFNA49											MESH:C564250|DOID:0110572|UMLS:C1842136|OMIM:608372|ICD10:H90.3																		owl:Class
MONDO:0041093	biolink:NamedThing	central retinal vein occlusion with macular edema		mondoexuq1wtf	central retinal vein occlusion with macular edema											SCTID:232039004																		owl:Class
MONDO:0003614	biolink:NamedThing	intravenous leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.	mondoexuq1wtf	intravenous leiomyomatosis											UMLS:C0346200|NCIT:C4518|DOID:5729|GARD:0010802|ICD9:238.1|SCTID:254883003														https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis				owl:Class
MONDO:0003295	biolink:NamedThing	leiomyomatosis	A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.	mondoexuq1wtf	leiomyomatosis, no ICD-O subtype (morphologic abnormality)|leiomyomatosis|leiomyomatosis, no ICD-O subtype											DOID:5138|MESH:D018231|UMLS:C0206654|ICDO:8890/1|NCIT:C3748																		owl:Class
MONDO:0009374	biolink:NamedThing	hydroxyprolinemia		mondoexuq1wtf	4 alpha hydroxy-L-proline oxidase deficiency|4-hydroxy-L-proline oxidase deficiency|hydroxyprolinemia (disease)|HYDROXYPROLINEMIA|Hydroxyprolinemia		hydroxyprolinemia (disease)									OMIM:237000|UMLS:C0268531|MESH:C562669|ICD9:270.8|HP:0003260|SCTID:25739007|GARD:0010717																		owl:Class
MONDO:0007475	biolink:NamedThing	duodenal ulcer, hyperpepsinogenemic 1		mondoexuq1wtf	duodenal Ulcer, hyperpepsinogenemic type 1|duodenal ulcer, hyperpepsinogenemic I											MESH:C565086|UMLS:C1852008|OMIM:126850																		owl:Class
MONDO:0001452	biolink:NamedThing	pseudoretinitis pigmentosa		mondoexuq1wtf	secondary pigmentary degeneration of retina|secondary pigmentary retinal degeneration											ICD10:H35.45|SCTID:193396007|DOID:12162|UMLS:C0154858|UMLS:C2053820|ICD9:362.65																		owl:Class
MONDO:0001200	biolink:NamedThing	secondary hypertension	High blood pressure caused by an underlying medical condition.	mondoexuq1wtf												COHD:319826|UMLS:C0155616|EFO:1002034|ICD10:I15.9|ICD10:I15|ICD9:405|ICD9:405.9|DOID:11130|ICD9:405.99|SCTID:31992008																		owl:Class
MONDO:0012634	biolink:NamedThing	craniofacial dysplasia - osteopenia syndrome		mondoexuq1wtf	hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility|Hamamy syndrome|HAMAMY syndrome|HMMS											MESH:C566988|OMIM:611174|UMLS:C1970027|Orphanet:314555																		owl:Class
MONDO:0044660	biolink:NamedThing	menstrual cycle-dependent periodic fever		mondoexuq1wtf	periodic fever, menstrual cycle-dependent|luteal-phase-dependent periodic fever|menstrual cycle-dependent febrile episode|luteal-phase-dependent febrile episode											OMIM:614674|UMLS:C3553418|Orphanet:498251																		owl:Class
MONDO:0006657	biolink:NamedThing	apparent mineralocorticoid excess syndrome	An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.	mondoexuq1wtf	syndrome of apparent mineralocorticoid Excess											MESH:D043204|SCTID:237770005|UMLS:C0342488|DOID:4367|ICD9:255.3|NCIT:C123231|EFO:1000817																		owl:Class
MONDO:0003585	biolink:NamedThing	adult liposarcoma	A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	mondoexuq1wtf	liposarcoma|liposarcoma of adults|adult liposarcoma											NCIT:C7811|DOID:5693|UMLS:C0278608																		owl:Class
MONDO:0006077	biolink:NamedThing	adrenal medullary hyperplasia	A hyperplasia that involves the adrenal medulla.	mondoexuq1wtf	adrenal medulla hyperplasia											EFO:1000076|NCIT:C35838																		owl:Class
MONDO:0010305	biolink:NamedThing	creatine transporter deficiency	X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.	mondoexuq1wtf	X-linked creatine transporter deficiency|creatine deficiency, X-linked|cerebral creatine deficiency syndrome type 1|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|X-linked creatine deficiency syndrome|mental retardation, X-linked, with creatine transport deficiency|creatine deficiency syndrome, X-linked|intellectual disability, X-linked, with creatine transport deficiency|mental retardation, X-linked, with creatine Transport deficiency|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|CCDS1|cerebral creatine deficiency syndrome 1|intellectual disability, X-linked, with creatine Transport deficiency|X-linked creatine deficiency|SLC6A8 deficiency|mental retardation, X-linked with seizures, short stature and midface hypoplasia|creatine transporter defect|intellectual disability, X-linked with seizures, short stature and midface hypoplasia											MESH:C535598|DOID:0050800|ICD10:E72.8|GARD:0001608|OMIM:300352|NCIT:C125665|ICD9:758.81|SCTID:698290008|Orphanet:52503																		owl:Class
MONDO:0024656	biolink:NamedThing	colorectal lymphoma	An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.	mondoexuq1wtf	colorectal lymphoma|large intestine lymphoma|large intestinal lymphoma|lymphoma of large intestine|primary colorectal lymphoma											UMLS:C3272822|NCIT:C96498																		owl:Class
MONDO:0004699	biolink:NamedThing	gastrointestinal lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.	mondoexuq1wtf	gastrointestinal lymphoma|primary gastrointestinal lymphoma|lymphoma of digestive system|digestive system lymphoma|primary digestive system lymphoma											UMLS:C0740372|DOID:903|ICD9:202.80|NCIT:C38162|SCTID:449072004																		owl:Class
MONDO:0013762	biolink:NamedThing	lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	pyruvate dehydrogenase lipoic acid synthetase deficiency|PDHLD|HGCLAS|hyperglycinemia, lactic acidosis, and seizures											GARD:0012678|ICD10:E88.8|Orphanet:401859|UMLS:C3280887|OMIM:614462														https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency				owl:Class
MONDO:0016993	biolink:NamedThing	generalized peeling skin syndrome type C		mondoexuq1wtf	generalized deciduous skin type C|peeling skin syndrome type C											UMLS:CN202307|ICD10:Q80.8|Orphanet:263558																		owl:Class
MONDO:0006700	biolink:NamedThing	choroid cancer	A malignant neoplasm involving the optic choroid.	mondoexuq1wtf	optic choroid cancer|cancer of optic choroid|malignant tumor of choroid|malignant choroid neoplasm|malignant neoplasm of the choroid|malignant optic choroid neoplasm|choroid neoplasm|malignant neoplasm of choroid|malignant tumor of the choroid|malignant neoplasm of optic choroid|choroidal tumor|malignant choroid tumor											DOID:12759|NCIT:C3566|MedDRA:10057405|MESH:D002830|ICD10:C69.3|ICD9:190.6|SCTID:363466008|EFO:1000866																		owl:Class
MONDO:0021258	biolink:NamedThing	choroid neoplasm	A neoplasm (disease) that involves the optic choroid.	mondoexuq1wtf	tumor of the choroid|optic choroid tumor|optic choroid neoplasm (disease)|choroid tumor|neoplasm of optic choroid|tumor of choroid|choroidal tumor|optic choroid neoplasm|tumor of optic choroid|choroidal neoplasm|neoplasm of choroid|neoplasm of the choroid											NCIT:C2949																		owl:Class
MONDO:0019266	biolink:NamedThing	SAPHO syndrome	SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.	mondoexuq1wtf	synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis acne pustulosis hyperostosis osteitis|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|PPHS|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|acquired hyperostosis syndrome											ICD10:M86.3|Orphanet:793|NCIT:C119049|GARD:0007606|SCTID:60684003|MESH:D020083|ICD9:706.1|EFO:1001164|MedDRA:10051316|UMLS:C0263859|DOID:13677														https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome				owl:Class
MONDO:0019607	biolink:NamedThing	unspecified juvenile idiopathic arthritis	Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.	mondoexuq1wtf	unspecified JIA											Orphanet:91140|ICD10:M08.8																		owl:Class
MONDO:0007153	biolink:NamedThing	arteries, anomalies of		mondoexuq1wtf	arteries, anomalies of											OMIM:108000																		owl:Class
MONDO:0005780	biolink:NamedThing	hantavirus infectious disease	Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.	mondoexuq1wtf	disease due to hantavirus|disease caused by hantavirus|Hantavirus disease or disorder|Hantavirus infectious disease|Hantavirus caused disease or disorder|infections, Hantavirus|Hantavirus infection										MONDO:0042492	NCIT:C3899|ICD9:079.81|MESH:D018778|EFO:0007295|UMLS:C0242994|SCTID:359761005																		owl:Class
MONDO:0004598	biolink:NamedThing	acute cor pulmonale	Acute form of cor pulmonale.	mondoexuq1wtf	cor pulmonale, acute											DOID:8517|SCTID:49584005|COHD:312927|UMLS:C0155672|ICD10:I26.09|ICD9:415.0																		owl:Class
MONDO:0014700	biolink:NamedThing	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation		mondoexuq1wtf	AU-Kline syndrome|AUKS|Au-Kline syndrome											UMLS:C4225274|Orphanet:453504|UMLS:CN237748|OMIM:616580																		owl:Class
MONDO:0004038	biolink:NamedThing	dental enamel hypoplasia	Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.	mondoexuq1wtf	enamel hypoplasia											EFO:1001304|UMLS:C0011351|NCIT:C34529|DOID:693|MESH:D003744|SCTID:26597004																		owl:Class
MONDO:0017181	biolink:NamedThing	hypnic headache	Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.	mondoexuq1wtf	hypnic headache|hypnic headache (disease)		hypnic headache (disease)									MESH:D051270|SCTID:122711000119109|Orphanet:276429|HP:0012459|GARD:0010796|ICD9:339.81|ICD10:G44.8																		owl:Class
MONDO:0013404	biolink:NamedThing	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.	mondoexuq1wtf	hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency											OMIM:613752|UMLS:C3151058|ICD10:E72.1|UMLS:C4510276|SCTID:724039002|GARD:0013177|Orphanet:88618|DOID:0111039																		owl:Class
MONDO:0022945	biolink:NamedThing	deafness peripheral neuropathy arterial disease		mondoexuq1wtf												GARD:0001701														https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease				owl:Class
MONDO:0006053	biolink:NamedThing	renal leiomyoma	A leiomyoma that involves the kidney.	mondoexuq1wtf	kidney leiomyoma|leiomyoma of kidney											EFO:1000050																		owl:Class
MONDO:0005224	biolink:NamedThing	acute myeloblastic leukemia without maturation	An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)	mondoexuq1wtf	M1 acute myelocytic leukemia without maturation|AML M1|acute myeloblastic leukemia M1|M1 acute myelocytic leukemia|M1 acute granulocytic leukemia|AML without maturation|acute M1 myeloid leukemia|AWM|M1 acute myelogenous leukemia without maturation|M1 acute myeloblastic leukemia without maturation|acute myelogenous leukemia without maturation|acute myelocytic leukemia without maturation|FAB M1|acute myeloblastic leukemia type 1|M1 acute myeloblastic leukemia|acute myeloid leukemia without maturation (FAB M1)|acute granulocytic leukemia without maturation|M1 acute granulocytic leukemia without maturation|M1 acute myeloid leukemia without maturation|M1 acute myelogenous leukemia|M1 acute myeloid leukemia|acute myeloid leukemia without maturation											ICDO:9873/3|NCIT:C3249|SCTID:359640008|EFO:0003027|GARD:0000526|ONCOTREE:AWM|Orphanet:98833|ICD10:C92.0														https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation				owl:Class
MONDO:0004346	biolink:NamedThing	signet ring cell intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.	mondoexuq1wtf	signet Ring cell intrahepatic cholangiocarcinoma											UMLS:C1519321|NCIT:C41619|DOID:7733																		owl:Class
MONDO:0006811	biolink:NamedThing	intracranial hypotension	Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)	mondoexuq1wtf												UMLS:C0524812|SCTID:433691000124104|MESH:D019585|DOID:4723|EFO:1000993|ICD9:349.89|MedDRA:10049977																		owl:Class
MONDO:0019162	biolink:NamedThing	pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	mondoexuq1wtf	Spitzer-Weinstein syndrome|mineralocorticoid resistant hyperkalemia|hyperpotassemia and hypertension familial|pseudohypoaldosteronism, type 2|chloride shunt syndrome|pseudohypoaldosteronism, type II|familial hyperkalemic hypertension|PHA2|Gordon syndrome|hyperkalemia-hypertension syndrome, Gordon type|PHAII|Gordon hyperkalemia-hypertension syndrome|hypertensive hyperkalemia											ICD9:588.89|Orphanet:757|NCIT:C123252|ICD10:I15.1|OMIMPS:145260|GARD:0004553|UMLS:C1449844|SCTID:15689008																		owl:Class
MONDO:0006395	biolink:NamedThing	rectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	tubulovillous adenoma of the rectum|rectal tubulovillous adenoma|Villotubular adenoma of rectum|Villotubular adenoma of the rectum|rectal Villotubular adenoma|tubulovillous adenoma of rectum											EFO:1000505|SCTID:448428002|UMLS:C1335691|NCIT:C5620																		owl:Class
MONDO:0024662	biolink:NamedThing	colorectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	colorectal tubulovillous adenoma|tubulovillous adenoma of large bowel|large bowel tubulovillous adenoma|tubulovillous adenoma of the large bowel											UMLS:C1333118|NCIT:C5675																		owl:Class
MONDO:0008551	biolink:NamedThing	thoracolaryngopelvic dysplasia	Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.	mondoexuq1wtf	thoracolaryngopelvic dysplasia|TLPD|Barnes syndrome|THORACOLARYNGOPELVIC dysplasia|THORACOPELVIC dysostosis|autosomal dominant thoracolaryngopelvic dysplasia											UMLS:C1861197|MESH:C536517|OMIM:187760|SCTID:723556008|OMIM:187770|ICD10:Q77.2|Orphanet:3317|GARD:0005184																		owl:Class
MONDO:0006152	biolink:NamedThing	colon inflammatory polyp	A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.	mondoexuq1wtf	inflammatory polyp of the colon|colonic inflammatory polyp|inflammatory polyp of colon											EFO:1000184|UMLS:C0267392|NCIT:C5517																		owl:Class
MONDO:0032756	biolink:NamedThing	long qt syndrome 8		mondoexuq1wtf	LONG QT SYNDROME 8|LQT8											OMIM:618447																		owl:Class
MONDO:0037739	biolink:NamedThing	benign neoplasm of cauda equina	A benign neoplasm that involves the cauda equina.	mondoexuq1wtf	benign neoplasm of cauda equina											SCTID:92047003|UMLS:C0686404																		owl:Class
MONDO:0012302	biolink:NamedThing	parietal foramina 3		mondoexuq1wtf	PFM3|parietal foramina 3											UMLS:C1835980|OMIM:609566|MESH:C563697																		owl:Class
MONDO:0019311	biolink:NamedThing	woolly hair nevus	Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.	mondoexuq1wtf	wooly hair nevus											UMLS:C0343114|Orphanet:79414|SCTID:239124001|ICD10:D23.4																		owl:Class
MONDO:0002687	biolink:NamedThing	superior mesenteric artery syndrome	Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.	mondoexuq1wtf	syndromic disease of superior mesenteric artery|Wilkie syndrome|Arteriomesenteric duodenal compression syndrome|superior mesenteric artery syndrome|vascular compression of the duodenum|Cast syndrome|superior mesenteric artery syndromic disease											GARD:0007712|EFO:1001201|NCIT:C85175|MESH:D013478|DOID:3557|UMLS:C0038828|SCTID:197006009														https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome				owl:Class
MONDO:0011729	biolink:NamedThing	stroke, susceptibility to, 1		mondoexuq1wtf	Strk1|stroke, susceptibility to, 1|stroke, susceptibility to, type 1											OMIM:606799																		owl:Class
MONDO:0019156	biolink:NamedThing	angioosteohypotrophic syndrome	Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	mondoexuq1wtf	Servelle-Martorell syndrome|Phlebectatic osteohypoplastic angiodysplasia											Orphanet:75508|UMLS:CN205707|SCTID:765750001																		owl:Class
MONDO:0025028	biolink:NamedThing	vesicular stomatitis	A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.	mondoexuq1wtf	vesicular Stomatitides|Stomatitides, vesicular|stomatitis, vesicular											SCTID:36921006|UMLS:C0266999|MESH:D054243																		owl:Class
MONDO:0015261	biolink:NamedThing	pseudopelade of Brocq	Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.	mondoexuq1wtf	pseudo pelade of Brocq|Brocq pseudopelade|pseudo-pelade of Brocq											GARD:0004536|SCTID:238731001|Orphanet:129|ICD9:704.09|ICD10:L66.0														https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq				owl:Class
MONDO:0018709	biolink:NamedThing	X-linked intellectual disability-hypotonia-movement disorder syndrome		mondoexuq1wtf												Orphanet:457260																		owl:Class
MONDO:0004508	biolink:NamedThing	periapical periodontitis	Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.	mondoexuq1wtf	apical periodontitis											DOID:823|SCTID:39273001|UMLS:C0031030|ICD10:K04.5|EFO:1001391|MESH:D010485																		owl:Class
MONDO:0014518	biolink:NamedThing	platelet-type bleeding disorder 19	Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.	mondoexuq1wtf	isolated hereditary giant platelet disorder caused by mutation in PRKACG|severe autosomal recessive macrothrombocytopenia|bleeding disorder, platelet-type, 19|PRKACG isolated hereditary giant platelet disorder|BDPLT19											OMIM:616176|DOID:0111048|UMLS:C4015405|Orphanet:438207|ICD10:D69.4																		owl:Class
MONDO:0008946	biolink:NamedThing	cerebral angiopathy, dysphoric		mondoexuq1wtf	cerebral angiopathy, dysphoric											UMLS:C1859283|OMIM:213500|MESH:C565864																		owl:Class
MONDO:0005510	biolink:NamedThing	hydronephrosis	Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.	mondoexuq1wtf												MESH:D006869|COHD:433811|UMLS:C0020295|NCIT:C26796|ICD9:591|EFO:0005562|DOID:11111|ICD10:N13.30|SCTID:43064006																		owl:Class
MONDO:0011995	biolink:NamedThing	cataract - congenital heart disease - neural tube defect syndrome	Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	mondoexuq1wtf	craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability											OMIM:608227|UMLS:C1842363|MESH:C564271|Orphanet:314993																		owl:Class
MONDO:0012162	biolink:NamedThing	patterned macular dystrophy 2	Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.	mondoexuq1wtf	MDPT2|patterned macular dystrophy type 2|macular dystrophy, butterfly-Shaped pigmentary, 2|macular dystrophy, patterned, type 2|butterfly-shaped pigmentary maculary dystrophy 2|patterned macular dystrophy caused by mutation in CTNNA1|macular dystrophy, patterned, 2|CTNNA1 patterned macular dystrophy											DOID:0060864|UMLS:C1837029|OMIM:608970																		owl:Class
MONDO:0016042	biolink:NamedThing	late-onset isolated ACTH deficiency	Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	mondoexuq1wtf												ICD10:E23.6|Orphanet:199299																		owl:Class
MONDO:0024476	biolink:NamedThing	epithelial neoplasm of rectum	A epithelial neoplasm that involves the rectum.	mondoexuq1wtf	rectal epithelial tumor|rectal epithelial neoplasm|rectum epithelial neoplasm																													owl:Class
MONDO:0010241	biolink:NamedThing	congenital stationary night blindness 2A	Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.	mondoexuq1wtf	congenital stationary night blindness 2A X-linked|congenital stationary night blindness type 2A|CSNB2A|night blindness, congenital stationary, type 2|congenital stationary night blindness caused by mutation in CACNA1F|CSNB, incomplete, X-linked|night blindness, congenital stationary, type 2A|CACNA1F congenital stationary night blindness											UMLS:C1848172|OMIM:300071|DOID:0110871																		owl:Class
MONDO:0010263	biolink:NamedThing	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		mondoexuq1wtf	Ats-Mr|chromosome Xq22.3 telomeric deletion syndrome|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|AMME complex|AMME syndrome|ATS-MR											Orphanet:86818|SCTID:720982007|OMIM:300194|ICD10:Q87.8|MESH:C564570|UMLS:C1846242																		owl:Class
MONDO:0020174	biolink:NamedThing	precancerous lesion of palpebral epidermis	A precancerous condition that involves the skin of eyelid.	mondoexuq1wtf	skin of eyelid precancerous condition											Orphanet:98583																		owl:Class
MONDO:0001379	biolink:NamedThing	ureteric orifice cancer	A malignant neoplasm involving the ureteral orifice.	mondoexuq1wtf	malignant tumor of ureteric orifice|ureteral orifice cancer|malignant neoplasm of ureteral orifice|cancer of ureteral orifice|orifice of the ureter|malignant neoplasm of ureteric orifice of urinary bladder|malignant ureteral orifice neoplasm											SCTID:188245008|ICD9:188.6|ICD10:C67.6|UMLS:C0153614|DOID:11818																		owl:Class
MONDO:0001380	biolink:NamedThing	bladder dome cancer	Cancer of the upper, convex surface of the bladder.	mondoexuq1wtf	malignant neoplasm of fundus of urinary bladder|malignant fundus of urinary bladder neoplasm|fundus of urinary bladder cancer|malignant neoplasm of dome of urinary bladder|malignant neoplasm of apex of urinary bladder|superior surface of bladder|cancer of fundus of urinary bladder|malignant tumor of vault of bladder											ICD9:188.1|DOID:11820|ICD10:C67.1|SCTID:188240003|UMLS:C0496827																		owl:Class
MONDO:0017581	biolink:NamedThing	familial infantile gigantism		mondoexuq1wtf	hereditary pituitary hyperplasia|infantile gigantism due to pituitary hyperplasia|X-LAG (X-linked acrogigantism)|hereditary infantile gigantism											UMLS:CN203384|ICD10:E22.0|Orphanet:300373																		owl:Class
MONDO:0009517	biolink:NamedThing	Donohue syndrome	Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.	mondoexuq1wtf	insulin receptor, defect 1N|Donohue syndrome|leprechaunism											SCTID:111307005|NCIT:C84676|Orphanet:508|OMIM:246200|GARD:0006885|MESH:D056731|ICD10:E34.8|ICD9:259.8|DOID:0050470|UMLS:C0265344																		owl:Class
MONDO:0009054	biolink:NamedThing	autosomal recessive cutis laxa type 2, classic type		mondoexuq1wtf	ARCL2, debre type|ARCL2A|autosomal recessive cutis laxa type 2, Debré type|autosomal recessive cutis laxa type II classic type|ADCL2|Arcl2|ARCL2, classic type|ARCL2, Debre type|ARCL2, Debré type|autosomal recessive cutis laxa type 2, Debre type											ICD10:Q82.8|MESH:C562632|DOID:0070141|DOID:0070136|UMLS:CN204606|SCTID:73856006|Orphanet:357074																		owl:Class
MONDO:0017150	biolink:NamedThing	pulmonary arterial hypertension associated with another disease	Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.	mondoexuq1wtf	PAH associated with another disease|secondary PAH											ICD10:I27.2|Orphanet:275791|UMLS:CN202577|EFO:0009193																		owl:Class
MONDO:0040673	biolink:NamedThing	malignant peritoneal germ cell tumor	A malignant germ cell tumor that affects the peritoneum.	mondoexuq1wtf	malignant peritoneal germ cell tumor											UMLS:C4526657|NCIT:C136410																		owl:Class
MONDO:0004782	biolink:NamedThing	diabetes insipidus	A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.	mondoexuq1wtf												UMLS:C0011848|GARD:0011934|NCIT:C43263|DOID:9409|ICD10:E23.2|COHD:30968|ICD9:253.5|SCTID:15771004|MESH:D003919																		owl:Class
MONDO:0017548	biolink:NamedThing	humero-radio-ulnar synostosis, unilateral		mondoexuq1wtf	humero-radio-ulnar fusion, unilateral											Orphanet:295205|ICD10:Q74.0																		owl:Class
MONDO:0024473	biolink:NamedThing	Astrakhan spotted fever	An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.	mondoexuq1wtf												DOID:0050041																		owl:Class
MONDO:0009174	biolink:NamedThing	protein-losing enteropathy	Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.	mondoexuq1wtf	protein-losing enteropathy (disease)|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy|exudative enteropathy|enteropathy, PROTEIN-losing|enteropathy, exudative|CHAPLE|protein-losing enteropathy		protein-losing enteropathy (disease)									SCTID:22542007|HP:0002243|ICD9:579.8|OMIM:226300|UMLS:C0033680|MESH:D011504|DOID:10611|Orphanet:566175																		owl:Class
MONDO:0001228	biolink:NamedThing	conjunctival folliculosis		mondoexuq1wtf	acute follicular conjunctivitis											ICD10:H10.01|COHD:376412|DOID:11219|SCTID:41308008|ICD9:372.02|UMLS:C0155143																		owl:Class
MONDO:0012211	biolink:NamedThing	MPDU1-CDG	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.	mondoexuq1wtf	congenital disorder of glycosylation type If|CDG-If|CDG If|carbohydrate deficient glycoprotein syndrome type If|congenital disorder of glycosylation, type If|carbohydrate-deficient glycoprotein syndrome type 1F|CDG syndrome type If|CDGIf|CDG1F|MPDU1-CDG (CDG-If)|CDG 1F|congenital disorder of glycosylation type 1f											GARD:0009832|MESH:C535744|Orphanet:79323|DOID:0080558|NCIT:C126872|UMLS:C1836669|ICD10:E77.8|OMIM:609180|SCTID:724096007																		owl:Class
MONDO:0007633	biolink:NamedThing	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness		mondoexuq1wtf	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness											UMLS:C1850982|OMIM:136600|MESH:C564999																		owl:Class
MONDO:0007011	biolink:NamedThing	uveoparotid fever	A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.	mondoexuq1wtf	uveoparotid fever|Heerfordt's syndrome											DOID:13404|MESH:D014608|SCTID:4416007|EFO:1001232|ICD10:D86.89|UMLS:C0042171																		owl:Class
MONDO:0013599	biolink:NamedThing	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	mondoexuq1wtf	candidiasis familial chronic mucocutaneous, autosomal dominant|CANDF7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant|immunodeficiency type 31C|immunodeficiency 31C|candidiasis familial, 7|familial chronic mucocutaneous, autosomal dominant|IMD31C											Orphanet:391487|ICD10:K63.9|GARD:0012314|UMLS:C3279990|OMIM:614162																		owl:Class
MONDO:0017830	biolink:NamedThing	severe Canavan disease	Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.	mondoexuq1wtf	neonatal Canavan disease|infantile Canavan disease											Orphanet:314911|UMLS:CN203803|ICD10:E75.2																		owl:Class
MONDO:0006387	biolink:NamedThing	primary pulmonary diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.	mondoexuq1wtf	high grade MALT lymphoma of the lung|diffuse large B-cell lymphoma of lung|lung diffuse large B-cell lymphoma|primary pulmonary diffuse large B-cell lymphoma|pulmonary diffuse large B-cell lymphoma											EFO:1000495|UMLS:C1709666|NCIT:C45605																		owl:Class
MONDO:0012942	biolink:NamedThing	lung cancer susceptibility 3		mondoexuq1wtf	LNCR3|adenocarcinoma of lung, susceptibility to|lung cancer susceptibility 3											UMLS:C2675497|OMIM:612571																		owl:Class
MONDO:0021019	biolink:NamedThing	X-linked recessive ocular albinism	X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.	mondoexuq1wtf	OA1|albinism, ocular, type I|Nettleship-Falls type ocular albinism|ocular albinism type 1|XLOA|albinism, ocular, type 1|X-linked ocular albinism|Nettleship-Falls syndrome|ocular albinism, Nettleship-Falls type											NCIT:C118785|ICD9:270.2|GARD:0008471|OMIM:300500|MESH:C537863|Orphanet:54|UMLS:C0342684|SCTID:78642008|ICD10:E70.3																		owl:Class
MONDO:0017304	biolink:NamedThing	ocular albinism	Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.	mondoexuq1wtf	ocular albinism|XLOA|ocular albinism (disease)		ocular albinism (disease)									HP:0001107|Orphanet:284804|ICD10:E70.3|MedDRA:10065276|ICD9:270.2|DOID:0050633|MESH:D016117|SCTID:26399002																		owl:Class
MONDO:0002919	biolink:NamedThing	posterior cranial fossa meningioma	A meningioma that affects the posterior cranial fossa.	mondoexuq1wtf	meningioma of the posterior cranial fossa|posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa|meningioma of posterior cranial fossa											DOID:4211|UMLS:C1335448|NCIT:C6775																		owl:Class
MONDO:0000708	biolink:NamedThing	Crohn jejunoileitis		mondoexuq1wtf	jejunoileitis											DOID:0060188|ICD10:K50.0																		owl:Class
MONDO:0010970	biolink:NamedThing	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies		mondoexuq1wtf	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, Cardiac defects, and intellectual disability|cleft palate, CARDIAC defects, and mental retardation|CPCMR|cleft palate, Cardiac defects, and mental retardation|cleft palate, CARDIAC defects, and intellectual disability											DOID:0111697|OMIM:600987|UMLS:C1832950|MESH:C563414																		owl:Class
MONDO:0002808	biolink:NamedThing	pancreatic serous cystadenoma	A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.	mondoexuq1wtf	PSC|serous cystadenoma of pancreas|pancreatic serous cystadenoma|pancreas serous cystadenoma|pancreatic microcystic adenoma|serous cystadenoma of the pancreas											ONCOTREE:PSC|NCIT:C5712|DOID:3917|UMLS:C1335316																		owl:Class
MONDO:0010523	biolink:NamedThing	X-linked reticulate pigmentary disorder	X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.	mondoexuq1wtf	Partington disease|X-linked cutaneous amyloidosis|familial cutaneous amyloidosis|pigmentary disorder, reticulate, with systemic manifestations, X-linked|pigmentary disorder, reticulate, with systemic manifestations|amyloidosis, familial cutaneous|XLPDR|PDR											Orphanet:85453|SCTID:717224002|MESH:C564461|ICD10:E85.0+|ICD10:L99.0*|OMIM:301220																		owl:Class
MONDO:0004450	biolink:NamedThing	carotid artery occlusion	A occlusion precerebral artery that involves the carotid artery segment.	mondoexuq1wtf	occlusion precerebral artery of carotid artery segment|occlusion and stenosis of carotid artery|carotid artery segment occlusion precerebral artery											SCTID:266254007|ICD9:433.10|DOID:807|UMLS:C0265101																		owl:Class
MONDO:0001652	biolink:NamedThing	scrotum melanoma	A melanoma (disease) that involves the scrotum.	mondoexuq1wtf	melanoma of the scrotum|scrotal melanoma|melanoma of scrotum|melanoma (disease) of scrotum|scrotum melanoma (disease)											DOID:13160|NCIT:C7361|UMLS:C1331544																		owl:Class
MONDO:0015291	biolink:NamedThing	stromal keratitis	Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.	mondoexuq1wtf												UMLS:C1318020|Orphanet:137599|ICD10:H16.3																		owl:Class
MONDO:0015288	biolink:NamedThing	herpes simplex virus keratitis	A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)	mondoexuq1wtf	dendritic keratitis|HSV keratitis|herpetic keratitis|Simplexvirus keratitis|Simplexvirus caused keratitis											ICD10:B00.5+|Orphanet:137586|UMLS:C0019357|EFO:0007308|UMLS:C0022570|NCIT:C34743|ICD10:H19.1*|DOID:0080158|SCTID:9389005																		owl:Class
MONDO:0021151	biolink:NamedThing	non-genetic		mondoexuq1wtf	non-genomic																													owl:Class
MONDO:0021149	biolink:NamedThing	genetic vs non-genetic etiology		mondoexuq1wtf																														owl:Class
MONDO:0009323	biolink:NamedThing	Halothane hepatitis		mondoexuq1wtf	Halothane hepatitis											SCTID:235873001|OMIM:234350|UMLS:C0241913|MESH:C562477																		owl:Class
MONDO:0007587	biolink:NamedThing	external auditory canal atresia-vertical talus-hypertelorism syndrome		mondoexuq1wtf	inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance|Rasmussen Johnsen Thomsen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|Rasmussen syndrome|Rasmussen-Johnsen-Thomsen syndrome											Orphanet:3023|ICD10:Q87.8|GARD:0004638|UMLS:C2930867|OMIM:133705																		owl:Class
MONDO:0009336	biolink:NamedThing	hemosiderosis, pulmonary, with deficiency of gamma-a globulin		mondoexuq1wtf	hemosiderosis, pulmonary, with deficiency of gamma-a globulin											OMIM:235500																		owl:Class
MONDO:0011499	biolink:NamedThing	Okamoto syndrome	Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	mondoexuq1wtf	hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome											UMLS:C1858043|MESH:C565736|SCTID:722065002|OMIM:604916|Orphanet:2729|ICD10:Q87.8|GARD:0004064														https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome				owl:Class
MONDO:0010175	biolink:NamedThing	van Bogaert-Hozay syndrome		mondoexuq1wtf	A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|Hozay's syndrome|Hozay’s syndrome|acro-osteolysis-facial dysplasia syndrome|van Bogaert-Hozay syndrome											GARD:0008415|OMIM:277150|UMLS:C1848598|MESH:C536526														https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome				owl:Class
MONDO:0014121	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures		mondoexuq1wtf	autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|SMALED2|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures											ICD10:G12.1|UMLS:C3809049|OMIM:615290|Orphanet:363454|GARD:0013222																		owl:Class
MONDO:0018190	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy		mondoexuq1wtf	lower extremity-predominant autosomal dominant proximal spinal muscular atrophy|SMALED|spinal muscular atrophy, lower extremity-predominant											Orphanet:363447|UMLS:CN227282|OMIMPS:158600|ICD10:G12.1																		owl:Class
MONDO:0003848	biolink:NamedThing	ectopic thymus	A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.	mondoexuq1wtf	ectopic thymus											NCIT:C27804|DOID:6307|UMLS:C1333375																		owl:Class
MONDO:0014553	biolink:NamedThing	Tenorio syndrome		mondoexuq1wtf	TENORIO syndrome|TNORS|overgrowth, macrocephaly, and intellectual disability syndrome|Tenorio syndrome											UMLS:C4015710|OMIM:616260																		owl:Class
MONDO:0018435	biolink:NamedThing	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.	mondoexuq1wtf	AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)											Orphanet:402020|ICD10:C92.0|GARD:0012759														https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262				owl:Class
MONDO:0032767	biolink:NamedThing	paragangliomas 6		mondoexuq1wtf	PGL6|PARAGANGLIOMAS 6											OMIM:618464																		owl:Class
MONDO:0018739	biolink:NamedThing	neonatal alloimmune neutropenia		mondoexuq1wtf												UMLS:C0272176|ICD10:P61.5|SCTID:14333004|Orphanet:464370																		owl:Class
MONDO:0030854	biolink:NamedThing	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		mondoexuq1wtf	OIEDS1|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1|OIEDS Syndrome 1											OMIM:619115																		owl:Class
MONDO:0021437	biolink:NamedThing	lipoma of stomach	A lipoma that involves the stomach.	mondoexuq1wtf	gastric lipoma|stomach lipoma|lipoma of the stomach											SCTID:695751021000132104|NCIT:C5258|UMLS:C1333777																		owl:Class
MONDO:0018828	biolink:NamedThing	pseudo-TORCH syndrome 2		mondoexuq1wtf	USP18 deficiency|pseudo-TORCH syndrome 2|PTORCH2											UMLS:C4479376|OMIM:617397|Orphanet:481665																		owl:Class
MONDO:0014270	biolink:NamedThing	STT3A-CDG	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).	mondoexuq1wtf	CDG-Iw|congenital disorder of glycosylation, type Iw|CDG Iw|congenital disorder of glycosylation type Iw|CDG syndrome type Iw|CDG1W|congenital disorder of glycosylation type 1w											SCTID:733111000|Orphanet:370921|ICD10:E77.8|OMIM:615596|UMLS:C3810062|DOID:0080572																		owl:Class
MONDO:0012827	biolink:NamedThing	scoliosis, isolated, susceptibility to, 5		mondoexuq1wtf	IS5|scoliosis, isolated, susceptibility to, 5											OMIM:612239																		owl:Class
MONDO:0007618	biolink:NamedThing	Eng-Strom syndrome	Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	mondoexuq1wtf	finger locking, recurrent, with intrauterine growth retardation and proportionate short stature|short stature-locking fingers syndrome											OMIM:135950|Orphanet:1937|UMLS:C2931545|ICD10:Q87.1																		owl:Class
MONDO:0007207	biolink:NamedThing	Böök syndrome	Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	mondoexuq1wtf	Böök syndrome|PHC syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome											GARD:0000932|Orphanet:1262|OMIM:112300|SCTID:722296002|UMLS:C0457014|ICD10:Q82.4|MESH:C562993																		owl:Class
MONDO:0012883	biolink:NamedThing	acute promyelocytic leukemia	Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.	mondoexuq1wtf	acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|acute myeloid leukemia M3|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|APL|leukemia, acute promyelocytic|FAB M3|APML - acute promyelocytic leukemia|acute myeloblastic leukemia type 3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara|AML M3|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|AML with t(15;17)(q22;q12)|acute promyelocytic leukemia with PML-rara|acute myeloblastic leukemia 3|acute promyelocytic leukemia|promyelocytic leukemia|APML											ICD10:C92.4|UMLS:C0023487|ICD10:C92.40|DOID:0060318|NCIT:C3182|MedDRA:10001019|EFO:0000224|ICDO:9866/3|SCTID:110004001|GARD:0000538|OMIM:612376|Orphanet:520|MESH:D015473																		owl:Class
MONDO:0032834	biolink:NamedThing	retinitis pigmentosa 86		mondoexuq1wtf	RP86|RETINITIS PIGMENTOSA 86											OMIM:618613																		owl:Class
MONDO:0004090	biolink:NamedThing	vulvar basaloid squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.	mondoexuq1wtf	vulvar basaloid squamous cell carcinoma|vulvar basaloid carcinoma											UMLS:C2211850|NCIT:C40286|DOID:7048																		owl:Class
MONDO:0007363	biolink:NamedThing	congenital contractural arachnodactyly	Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.	mondoexuq1wtf	CCA|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|Beals syndrome|contractures, multiple with arachnodactyly|distal arthrogryposis type 9|Beals-Hecht syndrome|CCA syndrome|arachnodactyly, contractural Beals type|DA9|arthrogryposis, distal, type 9|contractural arachnodactyly, congenital											OMIM:121050|SCTID:205821003|UMLS:C0220668|NCIT:C129865|ICD10:Q68.8|MESH:C536211|Orphanet:115|ICD9:759.89|DOID:0111595|GARD:0005899																		owl:Class
MONDO:0001678	biolink:NamedThing	intestinal tuberculosis	A tuberculosis that involves the intestine.	mondoexuq1wtf	tuberculosis of intestine|intestine tuberculosis											SCTID:60136008|UMLS:C0275911|ICD9:014.8|DOID:13282|ICD9:014.80																		owl:Class
MONDO:0100361	biolink:NamedThing	lip herpes simplex type 1 infectious disease	Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0100359	biolink:NamedThing	herpes simplex type 1 infectious disease	A disease caused by infection with herpes simplex type 1.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0007275	biolink:NamedThing	carpal tunnel syndrome	Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.	mondoexuq1wtf	carpal tunnel median neuropathy|median nerve entrapment|amyotrophy, thenar, of carpal origin|carpal tunnel syndrome|CTS - carpal tunnel syndrome|CTS											UMLS:C0007286|SCTID:57406009|ICD10:G56.00|ICD9:354.0|EFO:0004143|COHD:380094|MESH:D002349|NCIT:C34450|ICD10:G56.0|OMIMPS:115430|DOID:12169																		owl:Class
MONDO:0009316	biolink:NamedThing	hair defect-photosensitivity-intellectual disability syndrome	Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration.	mondoexuq1wtf	hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|Calderón-González-Cantu syndrome|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|Calderon Gonzalez-Cantu syndrome|hair defect with photosensitivity and mental retardation											OMIM:234030|MESH:C537628|GARD:0002582|Orphanet:1408																		owl:Class
MONDO:0003635	biolink:NamedThing	sebaceous breast carcinoma	A very rare breast adenocarcinoma with sebaceous differentiation.	mondoexuq1wtf	breast sebaceous adenocarcinoma|sebaceous adenocarcinoma of breast|sebaceous breast carcinoma											NCIT:C40369|DOID:5760|UMLS:C1519207																		owl:Class
MONDO:0012613	biolink:NamedThing	intellectual disability, autosomal recessive 5	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive type 5|intellectual disability, autosomal recessive 5|MRT5|mental retardation, autosomal recessive 5|NSUN2 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|mental retardation, autosomal recessive type 5											OMIM:611091|MESH:C567018|UMLS:C1970199																		owl:Class
MONDO:0013278	biolink:NamedThing	lymphedema, hereditary, 1C	Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.	mondoexuq1wtf	lymphedema, hereditary, IC|GJC2 hereditary lymphedema|LMPH1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, type 1C											UMLS:C3150732|OMIM:613480|DOID:0070208																		owl:Class
MONDO:0005467	biolink:NamedThing	occupation-related stress disorder	The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.	mondoexuq1wtf												EFO:0005250|SCTID:10586006|Wikipedia:Occupational_stress																		owl:Class
MONDO:0001421	biolink:NamedThing	frontal lobe neoplasm	A neoplasm involving a frontal lobe.	mondoexuq1wtf	tumor of frontal lobe|neoplasm of frontal lobe|tumor of the frontal lobe|neoplasm of the frontal lobe|frontal lobe tumor|malignant neoplasm of frontal lobe|frontal lobe neoplasm (disease)											DOID:12016|UMLS:C1263886|SCTID:126954003|ICD10:C71.1|ICD9:191.1|NCIT:C5572																		owl:Class
MONDO:0041535	biolink:NamedThing	mesenteric lymphadenitis due to Yersinia infection	An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.	mondoexuq1wtf	mesenteric lymphadenitis due to Yersinia pseudotuberculosis|lymphadenitis mesenterialis Masshoff|Yersinia pseudotuberculosis mesenteric lymphadenitis|Masshoff's syndrome|Yersinia pseudotuberculosis caused mesenteric lymphadenitis											SCTID:13272007|UMLS:C0275758																		owl:Class
MONDO:0001116	biolink:NamedThing	mesenteric lymphadenitis	Inflammation of the mesenteric lymph nodes.	mondoexuq1wtf	lymphadenitis (disease) of mesentery|mesenteric adenitis|mesenteric lymphadenitis|mesentery lymphadenitis (disease)											SCTID:44897000|DOID:10782|ICD9:289.2|NCIT:C26830|UMLS:C0025469|ICD10:I88.0|MESH:D008640																		owl:Class
MONDO:0019925	biolink:NamedThing	paternal uniparental disomy of chromosome 21	Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	mondoexuq1wtf	UPD(21)pat|paternal uniparental disomy of chromosome type 21											ICD10:Q99.8|Orphanet:96195|SCTID:766720000																		owl:Class
MONDO:0008390	biolink:NamedThing	Rombo syndrome	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	mondoexuq1wtf	vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis|Rombo syndrome											Orphanet:3110|OMIM:180730|ICD10:L98.8|SCTID:721904001|UMLS:C1867147|MESH:C535870|GARD:0004738														https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome				owl:Class
MONDO:0030701	biolink:NamedThing	autoimmune cardiomyopathy	An autoimmune form of cardiomyopathy.	mondoexuq1wtf												DOID:0040095																		owl:Class
MONDO:0045057	biolink:NamedThing	delirium	A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)	mondoexuq1wtf	OBS syndrome|organic brain syndrome											EFO:0009267|MESH:D003693|SCTID:2776000|UMLS:C0011206|ICD9:293.0																		owl:Class
MONDO:0003568	biolink:NamedThing	disorder of optic chiasm	A disease that involves the optic chiasma.	mondoexuq1wtf	disease or disorder of optic chiasma|chiasmal syndrome|optic chiasma disease or disorder|optic chiasma disease|chiasma syndrome|disease of optic chiasma|disorder of optic chiasm|disorder of optic chiasma											SCTID:70476006|ICD9:377.63|UMLS:C0155307|ICD9:377.5|ICD10:H47.4|DOID:5655																		owl:Class
MONDO:0060763	biolink:NamedThing	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities		mondoexuq1wtf	IDDSFTA|INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities											OMIM:618092																		owl:Class
MONDO:0013060	biolink:NamedThing	autosomal recessive Parkinson disease 14	Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	mondoexuq1wtf	autosomal recessive Parkinson's disease 14|dystonia-Parkinsonism Adult-onset|hereditary late onset Parkinson disease caused by mutation in PLA2G6|adult-onset dystonia - parkinsonism|autosomal recessive Parkinson disease type 14|Parkinson disease 14, autosomal recessive|PLA2G6 hereditary late onset Parkinson disease|PLA2G6-related dystonia-parkinsonism|PARK14|dystonia-parkinsonism, Paisan-Ruiz type|dystonia-Parkinsonism, adult-onset											OMIM:612953|DOID:0060900|GARD:0012568|SCTID:720466001|Orphanet:199351|ICD10:G24.1|UMLS:C2751842|MESH:C567844																		owl:Class
MONDO:0017236	biolink:NamedThing	rapidly progressive glomerulonephritis	Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.	mondoexuq1wtf	crescentic glomerulonephritis|RPGN											MedDRA:10018378|COHD:196464|ICD9:582.4|Orphanet:280569|ICD10:N01|ICD9:583.4|SCTID:236392004|NCIT:C35264|ICD9:580.4|DOID:4776|UMLS:C0221239																		owl:Class
MONDO:0004551	biolink:NamedThing	Meckel diverticulitis	Inflammation of a congenital diverticulum of the lower intestine.	mondoexuq1wtf	Meckel's diverticulum inflammation|Meckel diverticulitis|inflammation of Meckel's diverticulum|Meckel's diverticulitis											SCTID:48241004|NCIT:C27300|DOID:8408|UMLS:C0267497																		owl:Class
MONDO:0005479	biolink:NamedThing	atrial tachycardia	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)	mondoexuq1wtf												NCIT:C35481|ICD9:427.89|SCTID:276796006|EFO:0005308																		owl:Class
MONDO:0013813	biolink:NamedThing	dystonia 21	Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	mondoexuq1wtf	dystonia 21|dystonia type 21|DYT21|primary dystonia, DYT21 type											DOID:0090046|OMIM:614588|Orphanet:306734|ICD10:G24.1|UMLS:C3281236																		owl:Class
MONDO:0015688	biolink:NamedThing	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		mondoexuq1wtf	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2											Orphanet:168943																		owl:Class
MONDO:0015664	biolink:NamedThing	idiopathic pulmonary artery dilatation	Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.	mondoexuq1wtf	idiopathic dilatation of the pulmonary artery											GARD:0006757|Orphanet:1676|ICD10:E25.7														https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery				owl:Class
MONDO:0002433	biolink:NamedThing	malignant cranial nerve neoplasm	Abnormal malignant growth of the cells that comprise the cranial nerve.	mondoexuq1wtf	cancer of cranial nerve|malignant cranial nerve tumor|malignant neoplasm of cranial nerves|malignant tumor of the cranial nerve|malignant neoplasm of the cranial nerve|malignant cranial nerve neoplasm|cranial nerve malignant neoplasm|malignant neoplasm of cranial nerve|malignant tumor of cranial nerve|cranial nerve cancer|cranial nerve neoplasm, malignant											SCTID:188307009|DOID:2815|ICD10:C72.50|ICD9:192.0|NCIT:C3571|UMLS:C0153644																		owl:Class
MONDO:0044784	biolink:NamedThing	myxoma	A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.	mondoexuq1wtf	MYXOMA, BENIGN|Myxoma											ONCOTREE:MYXO|SCTID:404082003|NCIT:C6577																		owl:Class
MONDO:0016657	biolink:NamedThing	8p11.2 deletion syndrome	8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.	mondoexuq1wtf	monosomy 8p11.2|Del(8)(p11.2)											Orphanet:251066|UMLS:C4304505|SCTID:719646006|UMLS:CN201887|ICD10:Q93.5																		owl:Class
MONDO:0021944	biolink:NamedThing	auditory neuropathy	A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.	mondoexuq1wtf	auditory neuropathy spectrum disorder|ANSD|auditory neuropathy|familial auditory neuropathy|progressive auditory neuropathy|auditory dys-synchrony					Editor note: OMIMPS seems to refer to a more restricted concept						UMLS:C2732267|SCTID:443805006|GARD:0009274|NCIT:C116364|MESH:C538268|UMLS:C1852271|OMIMPS:609129														https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy				owl:Class
MONDO:0006690	biolink:NamedThing	carotid artery thrombosis	Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.	mondoexuq1wtf	carotid artery thrombosis											DOID:3410|SCTID:86003009|MESH:D002341|ICD9:433.10|MedDRA:10007688|UMLS:C0007274|EFO:1000853																		owl:Class
MONDO:0006218	biolink:NamedThing	gallbladder biliary intraepithelial neoplasia	A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.	mondoexuq1wtf	gallbladder biliary intraepithelial neoplasia|gallbladder BilIN|intracystic BilIN|gallbladder dysplasia|gallbladder intraepithelial neoplasia|intracystic biliary intraepithelial neoplasia											UMLS:C1708174|NCIT:C43606|EFO:1000265																		owl:Class
MONDO:0018868	biolink:NamedThing	metachromatic leukodystrophy	Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.	mondoexuq1wtf	arylsulfatase A deficiency|MLD|deficiency of cerebroside-sulfatase|sulfatide lipoidosis|Scholz cerebral sclerosis											NCIT:C61251|DOID:10581|ICD10:E75.29|ICD10:E75.2|ICD10:E75.25|SCTID:66521008|MedDRA:10067609|Orphanet:512|UMLS:C0023522|MESH:D007966																		owl:Class
MONDO:0003513	biolink:NamedThing	gastric teratoma	A mature or immature teratoma that arises from the stomach.	mondoexuq1wtf	gastric teratoma|stomach teratoma|teratoma of stomach|teratoma of the stomach											NCIT:C5259|DOID:5561|UMLS:C1333790																		owl:Class
MONDO:0008693	biolink:NamedThing	ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	mondoexuq1wtf	congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|ablepharon-macrostomia syndrome|AMS											ICD10:Q87.0|DOID:0060550|UMLS:C1860224|MESH:C535557|OMIM:200110|Orphanet:920|GARD:0000003|SCTID:718575002																		owl:Class
MONDO:0020154	biolink:NamedThing	microblepharon-ablephara syndrome		mondoexuq1wtf												Orphanet:98563|ICD10:Q10.3|UMLS:CN237783																		owl:Class
MONDO:0000496	biolink:NamedThing	hemorrhagic cystitis	Inflammation of the bladder resulting in bloody urine.	mondoexuq1wtf												UMLS:C0085692|DOID:0050859|SCTID:87696004|NCIT:C114666																		owl:Class
MONDO:0013754	biolink:NamedThing	cutis laxa, autosomal recessive, type 1B	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.	mondoexuq1wtf	autosomal recessive cutis laxa type IB|cutis laxa, autosomal recessive, type IB|ARCL1B											DOID:0070133|OMIM:614437|UMLS:C3280798|ICD10:Q82.8																		owl:Class
MONDO:0004464	biolink:NamedThing	nephrogenic adenoma of the urethra	A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	mondoexuq1wtf	urethra nephrogenic adenoma|nephrogenic adenoma of urethra|urethral nephrogenic adenoma											UMLS:C1336889|NCIT:C7416|DOID:8109																		owl:Class
MONDO:0012418	biolink:NamedThing	autosomal recessive nonsyndromic deafness 62	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.	mondoexuq1wtf	autosomal recessive deafness 62|DFNB62|autosomal recessive nonsyndromic deafness type 62|deafness, autosomal recessive 62											ICD10:H90.3|UMLS:C1857820|MESH:C565719|OMIM:610143|DOID:0110514																		owl:Class
MONDO:0022196	biolink:NamedThing	chronic erosive gastritis		mondoexuq1wtf	ceg - chronic erosive gastritis|idiopathic chronic, erosive gastritis|chronic erosive gastritis|diffuse varioliform gastritis|varioliform gastritis											ICD9:535.40|UMLS:C0267145|SCTID:63137003|GARD:0006099														https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis				owl:Class
MONDO:0011145	biolink:NamedThing	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome		mondoexuq1wtf	coloboma-obesity-hypogenitalism-mental retardation syndrome|coloboma-obesity-hypogenitalism-intellectual disability syndrome											Orphanet:363741|ICD10:Q87.8|UMLS:C1866256|OMIM:601794|MESH:C566623																		owl:Class
MONDO:0017186	biolink:NamedThing	diazoxide-resistant hyperinsulinism	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.	mondoexuq1wtf	diazoxide-resistant hyperinsulinemic hypoglycemia											Orphanet:276585|ICD10:E16.1																		owl:Class
MONDO:0006613	biolink:NamedThing	stromal corneal pigmentation	Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.	mondoexuq1wtf	stromal corneal pigmentations											SCTID:55031000|UMLS:C0155105|EFO:1000770|ICD9:371.12|ICD10:H18.06|DOID:12311																		owl:Class
MONDO:0001308	biolink:NamedThing	corneal deposit		mondoexuq1wtf	deposits - cornea					Editor note: consider placing in HPO						COHD:377288|ICD9:371.10|SCTID:74460005|DOID:11547|ICD10:H18.0|UMLS:C0162281|ICD10:H18.00																		owl:Class
MONDO:0014131	biolink:NamedThing	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		mondoexuq1wtf	SHAHEEN syndrome|SHNS											Orphanet:363523|UMLS:C3809160|OMIM:615328|ICD10:Q82.8																		owl:Class
MONDO:0033044	biolink:NamedThing	Meckel syndrome 13		mondoexuq1wtf	Meckel syndrome, type 13|Meckel syndrome 13|Joubert syndrome 29|MKS13											DOID:0080253|DOID:0080276|OMIM:617562																		owl:Class
MONDO:0060713	biolink:NamedThing	deafness, congenital heart defects, and posterior embryotoxon		mondoexuq1wtf	DCHE|deafnes, congenital heart defects, and posterior embryotoxon											MESH:C566604|OMIM:617992																		owl:Class
MONDO:0002260	biolink:NamedThing	hidradenitis	An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.	mondoexuq1wtf	inflammation of apocrine sweat gland|Hydradenitis|apocrine sweat gland inflammation|apocrine sweat gland											COHD:434119|UMLS:C0085160|SCTID:69741000|NCIT:C32132|DOID:2282|ICD9:705.83|MESH:D016575																		owl:Class
MONDO:0010156	biolink:NamedThing	Troyer syndrome	Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.	mondoexuq1wtf	hereditary spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|spastic paraplegia, autosomal recessive, Troyer type|childhood-onset spastic paraparesis-distal muscle wasting syndrome|Troyer syndrome|spastic paraplegia type 20|spastic paraplegia 20|autosomal recessive spastic paraplegia Troyer type|spastic paraplegia 20 (Troyer syndrome)|SPG20|autosomal recessive spastic paraplegia 20|Cross-McKusick syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|autosomal recessive spastic paraplegia type 20|spastic paraplegia 20, autosomal recessive											SCTID:230264003|GARD:0005372|Orphanet:101000|ICD10:G11.4|UMLS:C0393559|DOID:0050886|ICD9:335.29|MESH:C536858|OMIM:275900														https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome				owl:Class
MONDO:0002496	biolink:NamedThing	submucosal invasive colon adenocarcinoma	An adenocarcinoma of the colon that has invaded into the submucosa.	mondoexuq1wtf	submucosal invasive colon adenocarcinoma											NCIT:C38760|DOID:3038|UMLS:C1515024																		owl:Class
MONDO:0000769	biolink:NamedThing	chicken egg allergy	An egg allergy triggered by Gallus gallus eggs.	mondoexuq1wtf	Gallus gallus egg allergy											DOID:0060492																		owl:Class
MONDO:0013934	biolink:NamedThing	combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).	mondoexuq1wtf	T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|TIIAC|Mst1 deficiency|Cid due to STK4 deficiency|STK4 deficiency											ICD10:D81.8|Orphanet:314689|UMLS:C3553943|OMIM:614868																		owl:Class
MONDO:0010865	biolink:NamedThing	pseudoaminopterin syndrome	Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	mondoexuq1wtf	pseudoaminopterin syndrome|aminopterin syndrome-like sine aminopterin|aminopterin syndrome sine aminopterin|ASSA											Orphanet:221120|OMIM:600325|SCTID:715867000|ICD10:Q82.0|UMLS:C0795939|MESH:C535823|GARD:0004544														https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome				owl:Class
MONDO:0010996	biolink:NamedThing	hereditary hemorrhagic telangiectasia type 3		mondoexuq1wtf	telangiectasia hereditary hemorrhagic type 3|Osler Weber Rendu syndrome type 3|HHT3|telangiectasia, hereditary hemorrhagic, type 3|ORW3											MESH:C537140|GARD:0009902|OMIM:601101														https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3				owl:Class
MONDO:0100147	biolink:NamedThing	SATB2 associated disorder	A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0003591	biolink:NamedThing	kidney liposarcoma	A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.	mondoexuq1wtf	kidney liposarcoma|liposarcoma of kidney|renal liposarcoma|liposarcoma of the kidney											NCIT:C6185|DOID:5699|UMLS:C1335745																		owl:Class
MONDO:0020423	biolink:NamedThing	stenosis or atrophy of the coronary ostium		mondoexuq1wtf	coronary ostial stenosis or atresia|stenosis or atresia of the coronary ostium											ICD10:Q24.5|Orphanet:99087																		owl:Class
MONDO:0000879	biolink:NamedThing	cutaneous candidiasis	Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)	mondoexuq1wtf	zone of skin candidiasis											MESH:D002179|DOID:0080161|UMLS:C0006846																		owl:Class
MONDO:0014382	biolink:NamedThing	tall stature-intellectual disability-facial dysmorphism syndrome		mondoexuq1wtf	TBRS|TATTON-BROWN-Rahman syndrome|DNMT3A-related overgrowth syndrome|Tatton-Brown-Rahman overgrowth syndrome											Orphanet:404443|UMLS:C4014545|ICD10:Q87.3|OMIM:615879|SCTID:768843007																		owl:Class
MONDO:0001999	biolink:NamedThing	primary pulmonary hypertension	Increased blood pressure in the arteries of the lungs; the etiology is unknown.	mondoexuq1wtf	pulmonary hypertension, primary											ICD10:I27.0|ICD9:416.0|DOID:14557																		owl:Class
MONDO:0023147	biolink:NamedThing	fetal parainfluenza virus type 3 syndrome	A syndrome caused by HPIV-3.	mondoexuq1wtf	Human respirovirus 3 infectious embryofetopathy|Human respirovirus 3 caused infectious embryofetopathy											GARD:0002309														https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome				owl:Class
MONDO:0007992	biolink:NamedThing	microcornea-glaucoma-absent frontal sinuses syndrome	Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.	mondoexuq1wtf	hereditary microcornea, glaucoma, and absent frontal sinuses|microcornea, glaucoma, and absent frontal sinuses											OMIM:156700|GARD:0003637|MESH:C537552|Orphanet:2536|UMLS:C1834935|ICD10:Q15.8																		owl:Class
MONDO:0001529	biolink:NamedThing	pancytopenia	A finding of low numbers of red and white blood cells and platelets in the peripheral blood.	mondoexuq1wtf												SCTID:127034005|MESH:D010198|ICD10:D61.81|ICD9:284.1|UMLS:C0030312|COHD:432881|ICD9:284.89|NCIT:C34889|DOID:12450																		owl:Class
MONDO:0042601	biolink:NamedThing	Samson-Gardner syndrome		mondoexuq1wtf	craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia|Samson Gardner syndrome											UMLS:C2931448|MESH:C537230|GARD:0000151																		owl:Class
MONDO:0001804	biolink:NamedThing	anterior scleritis		mondoexuq1wtf												UMLS:C0155353|COHD:441582|SCTID:63454000|ICD10:H15.01|ICD9:379.03|DOID:13794																		owl:Class
MONDO:0019376	biolink:NamedThing	West-Nile encephalitis	An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.	mondoexuq1wtf	West Nile fever with encephalitis|West Nile virus infectious encephalitis|West Nile fever encephalitis|West Nile virus caused infectious encephalitis|West-Nile fever|West Nile encephalitis											EFO:0007545|ICD9:066.41|SCTID:392662004|GARD:0009959|DOID:2365|Orphanet:83476|ICD10:A92.31|ICD10:A92.3																		owl:Class
MONDO:0001349	biolink:NamedThing	odontoclasia		mondoexuq1wtf												UMLS:C0341004|DOID:11736|SCTID:196305005|ICD10:K02.4|ICD9:521.05																		owl:Class
MONDO:0018469	biolink:NamedThing	pulmonary non-tuberculous mycobacterial infection		mondoexuq1wtf	non-tuberculous mycobacterial lung disease|nontuberculous mycobacterial lung disease											Orphanet:411703|GARD:0012829|UMLS:CN237452|ICD10:A31.0																		owl:Class
MONDO:0000410	biolink:NamedThing	funisitis	An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.	mondoexuq1wtf												ICD9:658.80|NCIT:C97077|SCTID:396343006|UMLS:C1275592|DOID:0050698																		owl:Class
MONDO:0003893	biolink:NamedThing	rete testis adenoma	A benign epithelial neoplasm arising from the rete testis.	mondoexuq1wtf	rete testis adenoma|adenoma, rete testis, benign											DOID:6483|NCIT:C39956|UMLS:C1514910																		owl:Class
MONDO:0022817	biolink:NamedThing	congenital amputation		mondoexuq1wtf												GARD:0001471														https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation				owl:Class
MONDO:0010900	biolink:NamedThing	intrauterine growth retardation with increased mitomycin c sensitivity		mondoexuq1wtf	intrauterine growth retardation with increased mitomycin c sensitivity											GARD:0005593|OMIM:600546|MESH:C536744														https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity				owl:Class
MONDO:0032795	biolink:NamedThing	intellectual developmental disorder 59		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER 59|MRD59|Mental Retardation, Autosomal Dominant 59											OMIM:618522																		owl:Class
MONDO:0002570	biolink:NamedThing	high pressure neurological syndrome	A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.	mondoexuq1wtf												DOID:3230|MESH:D006610|UMLS:C0019537																		owl:Class
MONDO:0015836	biolink:NamedThing	Bicervical bicornuate uterus with patent cervix and vagina		mondoexuq1wtf												ICD10:Q51.1|Orphanet:180111																		owl:Class
MONDO:0015834	biolink:NamedThing	didelphys uterus		mondoexuq1wtf	Bicervical bicornuate uterus											ICD9:752.2|Orphanet:180086|MedDRA:10012770|ICD10:Q51.1|SCTID:15545001																		owl:Class
MONDO:0001256	biolink:NamedThing	arteriovenous hemangioma/malformation	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.	mondoexuq1wtf	racemose hemangioma (morphologic abnormality)|arteriovenous hemangioma/malformation|racemose angioma|arteriovenous angioma|cirsoid aneurysm|racemose hemangioma|arteriovenous hemangioma|arteriovenous malformation|racemose aneurysm (morphologic abnormality)|racemose aneurysm					Editor note: NCIT conflates hemangioma and malformation						NCIT:C2882|ICDO:9123/0|UMLS:C0334533|HP:0100026|ICD10:I77.0|SCTID:233982006|CSP:0571-2717|DOID:11294|MESH:D001165																		owl:Class
MONDO:0033557	biolink:NamedThing	hemophagocytic lymphohistiocytosis, familial, 6		mondoexuq1wtf	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6|FHL6											OMIM:618998																		owl:Class
MONDO:0004646	biolink:NamedThing	decubitus ulcer	Death of tissue due to external pressure.	mondoexuq1wtf	decubitus (pressure) ulcer|decubitus ulcer, upper back|decubitus ulcer|decubitus ulcer any site|decubitus ulcer, other site|decubitus ulcer, elbow|decubitus ulcer, lower back|pressure sores|pressure ulcer|bedsore											SCTID:399912005|DOID:8717|ICD9:707.0|COHD:135333|MESH:D003668|ICD10:L89.9|ICD9:707.00|ICD10:L89|EFO:0007067|UMLS:C0011127																		owl:Class
MONDO:0004605	biolink:NamedThing	chronic ulcer of skin		mondoexuq1wtf	indolent ulcer|callous ulcer|indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality)											ICD9:707.8|EFO:0007066|ICD10:L98.4|ICD9:707.9|UMLS:C0157738|COHD:134441|ICD9:707|DOID:8549|SCTID:19429009																		owl:Class
MONDO:0009830	biolink:NamedThing	parkinsonian-pyramidal syndrome	A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.	mondoexuq1wtf	autosomal recessive early-onset Parkinson disease type 15|autosomal recessive early-onset Parkinson's disease 15|PARK15|pallido-pyramidal disease|Parkinson disease 15, autosomal recessive early-onset|pallidopyramidal syndrome|Pallidopyramidal syndrome|autosomal recessive early-onset Parkinson disease 15|parkinsonian-pyramidal syndrome|pallido-pyramidal syndrome											DOID:0060372|ICD10:G20|Orphanet:171695|MESH:C538104|OMIM:260300|UMLS:C1850100|GARD:0009175																		owl:Class
MONDO:0003638	biolink:NamedThing	lung meningioma	A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.	mondoexuq1wtf	lung meningioma (disease)|lung primary meningioma|meningioma of lung|meningioma (disease) of lung|pulmonary meningioma|lung meningioma|meningioma of the lung|primary pulmonary meningioma											DOID:5764|UMLS:C1334450|NCIT:C5668																		owl:Class
MONDO:0007198	biolink:NamedThing	Ascher syndrome	Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.	mondoexuq1wtf	Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis and DOUBLE LIP|Ascher syndrome|blepharochalasis - double lip|blepharochalasis and Double type lip|blepharochalasis and Double lip|Ascher's syndrome|blepharochalasis-double lip syndrome|blepharochalasis and double lip											ICD10:Q87.0|UMLS:C0339085|GARD:0000201|ICD9:246.8|SCTID:28599006|Orphanet:1253|MESH:C562742|ICD9:374.89|OMIM:109900														https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome				owl:Class
MONDO:0100297	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1		mondoexuq1wtf	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|SSFSC											UMLS:CN807949|OMIM:617877																		owl:Class
MONDO:0031439	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:617877																		owl:Class
MONDO:0022768	biolink:NamedThing	chronic polyradiculoneuritis		mondoexuq1wtf												GARD:0001355														https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis				owl:Class
MONDO:0006915	biolink:NamedThing	polyradiculoneuropathy	Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.	mondoexuq1wtf												UMLS:C0032587|EFO:1001116|MESH:D011129|DOID:4308|SCTID:128078004																		owl:Class
MONDO:0004495	biolink:NamedThing	myotonic cataract	A cataract occurring as a sequela of myotonic dystrophy.	mondoexuq1wtf												UMLS:C0027128|NCIT:C34833|DOID:82|ICD9:366.43|SCTID:64741003|ICD9:359.29																		owl:Class
MONDO:0010967	biolink:NamedThing	autosomal recessive nonsyndromic deafness 7	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	mondoexuq1wtf	autosomal recessive deafness 7|deafness, autosomal recessive 7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|autosomal recessive nonsyndromic deafness type 7|DFNB11|TMC1 autosomal recessive nonsyndromic deafness|DFNB7|deafness, autosomal recessive 11|deafness, autosomal recessive type 7											OMIM:600974|UMLS:C1832978|MESH:C563417|DOID:0110520|ICD10:H90.3																		owl:Class
MONDO:0012700	biolink:NamedThing	renal tubular acidosis, distal, 4, with hemolytic anemia	Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.	mondoexuq1wtf	RTA, distal, autosomal recessive, with hemolytic Anemia|distal renal tubular acidosis with anemia|dRTA with anemia|renal tubular acidosis, distal, with normal Red cell morphology|renal tubular acidosis, distal, with hemolytic anemia											Orphanet:93610|UMLS:C1969038|OMIM:611590|ICD10:N25.8																		owl:Class
MONDO:0015827	biolink:NamedThing	distal renal tubular acidosis	Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.	mondoexuq1wtf	distal renal tubular acidosis (disease)|renal tubular acidosis, distal|dRTA|renal tubular acidosis type 1|familial distal primary acidosis|classic RTA|distal renal tubular acidosis		distal renal tubular acidosis (disease)									SCTID:236461000|ICD9:588.89|GARD:0004667|HP:0008341|MedDRA:10045224|OMIMPS:179800|Orphanet:18|ICD10:N25.8																		owl:Class
MONDO:0020838	biolink:NamedThing	anterior nasal diphtheria	Infection of the anterior nasal structures by Corynebacterium diphtheriae.	mondoexuq1wtf	anterior nasal diphtheria|Anterior Nasal Diphtheria|Anterior nasal diphtheria											SCTID:15682004|UMLS:C0012553|NCIT:C34542|ICD9:032.2																		owl:Class
MONDO:0004911	biolink:NamedThing	cardiovascular syphilis	A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.	mondoexuq1wtf												UMLS:C0039130|ICD9:093.89|DOID:9880|ICD9:093.9|ICD9:093.8|SCTID:83883001																		owl:Class
MONDO:0004497	biolink:NamedThing	tertiary syphilis	A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).	mondoexuq1wtf	late syphilis|late tertiary syphilis|tertiary syphilis											ICD9:095.9|ICD10:A52.9|NCIT:C128414|UMLS:C0153188|ICD9:097.0|DOID:8200|ICD10:A52.3|MESH:C536774|ICD10:A52|COHD:435739|SCTID:72083004|ICD9:095.8																		owl:Class
MONDO:0010857	biolink:NamedThing	semantic dementia	Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.	mondoexuq1wtf	frontotemporal lobe dementia|Ftdp17|disinhibition-dementia-Parkinsonism-amyotrophy Complex|frontotemporal dementia with Parkinsonism|Pick Complex|multiple system tauopathy with presenile dementia|FTD|Ftld with Tau inclusions|Wilhelmsen-Lynch disease|frontotemporal dementia|Pallidopontonigral Degeneration|dementia, frontotemporal, with Parkinsonism|semantic variant PPA|frontotemporal lobar Degeneration with Tau inclusions|semantic primary progressive aphasia											Orphanet:100069|GARD:0010792|OMIM:600274|ICD10:G31.0																		owl:Class
MONDO:0015059	biolink:NamedThing	progressive non-fluent aphasia	Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.	mondoexuq1wtf	non-fluent primary progressive aphasia|Agramatic variant of primary progressive aphasia|Agramatic variant of PPA|Primary Progressive Nonfluent aphasia|non-fluent variant PPA											MESH:D057178|MedDRA:10029542|Orphanet:100070|SCTID:716281000|ICD10:G31.0|GARD:0010793|NCIT:C85025														https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia				owl:Class
MONDO:0015379	biolink:NamedThing	cervical dermoid cyst	Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.	mondoexuq1wtf	dermoid cyst of the neck											SCTID:763129001|ICD10:Q18.8|Orphanet:141046																		owl:Class
MONDO:0004178	biolink:NamedThing	testicular yolk sac tumor, endodermal sinus pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.	mondoexuq1wtf	testicular yolk sac tumor, endodermal sinus pattern|endodermal sinus pattern testicular yolk sac tumor											DOID:7302|UMLS:C1515303|NCIT:C39927																		owl:Class
MONDO:0006833	biolink:NamedThing	lingual goiter	Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.	mondoexuq1wtf												SCTID:75667007|UMLS:C0271760|DOID:13196|MESH:D047268|EFO:1001018|ICD9:759.2																		owl:Class
MONDO:0009967	biolink:NamedThing	renal tubular acidosis 3		mondoexuq1wtf	renal tubular acidosis, distal, type 3|RTA, dislocation type|renal tubular acidosis III|renal tubular acidosis type 3|bicarbonate-wasting RTA|RTA, bicarbonate-wasting type											MESH:C537759|OMIM:267200|GARD:0004670																		owl:Class
MONDO:0010791	biolink:NamedThing	myoglobinuria, recurrent	An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.	mondoexuq1wtf	myoglobinuria recurrent|myoglobinuria, recurrent											GARD:0003879|OMIM:550500|MESH:C564018														https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent				owl:Class
MONDO:0000866	biolink:NamedThing	myoglobinuria		mondoexuq1wtf	myoglobinurias					TODO: cede to HPO						ICD10:R82.1|DOID:0080108|HP:0002913|NCIT:C114705|MESH:D009212																		owl:Class
MONDO:0014427	biolink:NamedThing	cone-rod dystrophy 20	Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.	mondoexuq1wtf	CORD20|POC1B cone-rod dystrophy|cone-rod dystrophy caused by mutation in POC1B|cone-rod dystrophy 20|cone-rod dystrophy type 20											OMIM:615973|DOID:0111026|UMLS:C4014856																		owl:Class
MONDO:0020470	biolink:NamedThing	49,XYYYY syndrome	49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	mondoexuq1wtf												Orphanet:99330|SCTID:734028007|ICD10:Q98.8|UMLS:CN207332|UMLS:C4518342																		owl:Class
MONDO:0007519	biolink:NamedThing	Edinburgh malformation syndrome	Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.	mondoexuq1wtf	typus Edinburgensis|Edinburgh malformation syndrome											UMLS:C0795933|MESH:C563051|OMIM:129850|ICD10:Q95.2|Orphanet:1895|GARD:0002074														https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome				owl:Class
MONDO:0003565	biolink:NamedThing	urethral villous adenoma	An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.	mondoexuq1wtf	urethra villous adenoma|urethral villous adenoma											UMLS:C1519828|DOID:5643|NCIT:C39872																		owl:Class
MONDO:0017607	biolink:NamedThing	caudal regression sequence	Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.	mondoexuq1wtf	sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome											UMLS:C1838568|MedDRA:10068896|NCIT:C124505|Orphanet:3027|UMLS:C1867774|ICD10:Q76.0|MedDRA:10059387|MedDRA:10054842|GARD:0006007																		owl:Class
MONDO:0013789	biolink:NamedThing	DDOST-CDG	DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).	mondoexuq1wtf	DDOST-CDG (CDG-Ir)|carbohydrate deficient glycoprotein syndrome type Ir|congenital disorder of glycosylation type Ir|CDG-Ir|CDG1R|carbohydrate deficient glycoprotein syndrome type|CDG syndrome type Ir|congenital disorder of glycosylation type 1r|congenital disorder of glycosylation, type Ir											ICD10:E77.8|GARD:0012398|DOID:0080569|Orphanet:300536|OMIM:614507|SCTID:733083006|UMLS:C3281084																		owl:Class
MONDO:0014215	biolink:NamedThing	primary ciliary dyskinesia 27	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, type 27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in CCDC65|ciliary dyskinesia, primary, 27, without situs inversus|CILD27|primary ciliary dyskinesia type 27|primary ciliary dyskinesia 27 without situs inversus|ciliary dyskinesia, primary, 27											ICD10:Q34.8|OMIM:615504|DOID:0110611|UMLS:C3809701																		owl:Class
MONDO:0009202	biolink:NamedThing	Thakker-Donnai syndrome		mondoexuq1wtf	Dysmorphism multiple structural anomalies|facial dysmorphism with multiple malformations|dysmorphic facial features and multiple structural abnormalities|Dysmorphism-multiple structural anomalies syndrome											ICD10:Q87.8|GARD:0005158|UMLS:C2931219|OMIM:227255|Orphanet:1780														https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome				owl:Class
MONDO:0010627	biolink:NamedThing	X-linked lymphoproliferative syndrome	X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).	mondoexuq1wtf	lymphoproliferative syndrome, X-linked|X-linked lymphoproliferative syndrome type 1|Duncan disease|SH2D1A-related lymphoproliferative disease, X-linked|Purtilo syndrome|X-linked lymphoproliferative disease|XLP1|XLP|lymphoproliferative syndrome X-linked 1|X-linked lymphoproliferative syndrome 1|lymphoproliferative syndrome, X-linked, type 1|X-linked lymphoproliferative syndrome|lymphoproliferative syndrome, X-linked, 1					Editor note: two OMIMPS						ICD9:238.79|GARD:0007906|ICD10:D82.3|NCIT:C61246|DOID:0060705|SCTID:77121009|MedDRA:10068348|Orphanet:2442|UMLS:C0549463														https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1				owl:Class
MONDO:0013211	biolink:NamedThing	dilated cardiomyopathy 1FF	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.	mondoexuq1wtf	cardiomyopathy, dilated, 1FF|dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, type 1Ff|CMD1FF											DOID:0110459|UMLS:C2750091|OMIM:613286|MESH:C567654|ICD10:I42.0																		owl:Class
MONDO:0015818	biolink:NamedThing	aggressive primary cutaneous B-cell lymphoma		mondoexuq1wtf												Orphanet:178554																		owl:Class
MONDO:0000495	biolink:NamedThing	oppositional defiant disorder	A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.	mondoexuq1wtf	oppositional defiant disorder|oppositional defiant disorder (disease)		oppositional defiant disorder (disease)									SCTID:18941000|ICD9:313.81|NCIT:C92565|COHD:441547|MESH:D019958|DOID:0050856|HP:0010865																		owl:Class
MONDO:0009342	biolink:NamedThing	Hirschsprung disease-deafness-polydactyly syndrome	Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Santos-Mateus-Leal syndrome|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness|Santos Mateus Leal syndrome											ICD10:Q43.1|MESH:C565518|GARD:0000157|SCTID:721221000|OMIM:235740|Orphanet:2155																		owl:Class
MONDO:0018314	biolink:NamedThing	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.	mondoexuq1wtf												UMLS:CN204956|ICD10:G40.2|Orphanet:391316																		owl:Class
MONDO:0014028	biolink:NamedThing	distal arthrogryposis type 5D	Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.	mondoexuq1wtf	distal arthrogryposis type 5 without ophthalmoplegia|distal arthrogryposis caused by mutation in ECEL1|DA5D|arthrogryposis, distal, type 5D|ECEL1 distal arthrogryposis|distal arthrogryposis type 5 without ophthalmoparesis											OMIM:615065|ICD10:Q68.8|Orphanet:329457|GARD:0013059|UMLS:C3554415|DOID:0111594														https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d				owl:Class
MONDO:0009353	biolink:NamedThing	homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.	mondoexuq1wtf	Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|MTHFR deficiency, thermolabile type|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency|methylenetetrahydrofolate reductase deficiency|5,10-alpha-methylenetetrahydro-folate reductase deficiency|homocystinuria due to MTHFR deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|MTHFR deficiency|methylene tetrahydrofolate reductase deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|Methylenetetrahydro-folate reductase deficiency											SCTID:41797007|MESH:C537357|Orphanet:395|ICD10:E72.1|OMIM:236250|GARD:0002734																		owl:Class
MONDO:0017829	biolink:NamedThing	autosomal dominant proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.	mondoexuq1wtf	proximal renal tubular acidosis, autosomal dominant|AD pRTA											ICD10:N25.8|UMLS:CN203801|Orphanet:314889																		owl:Class
MONDO:0008369	biolink:NamedThing	proximal renal tubular acidosis	Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.	mondoexuq1wtf	renal tubular acidosis 2|Type 2 RTA|RTA, rate type|renal tubular acidosis type 2|pRTA|RTA, proximal type|renal tubular acidosis, proximal|Type 2 renal tubular acidosis											ICD9:588.89|Orphanet:47159|MedDRA:10037080|ICD10:N25.8|SCTID:24790002|OMIM:179830																		owl:Class
MONDO:0010789	biolink:NamedThing	MELAS syndrome	MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.	mondoexuq1wtf	mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|MELAS syndrome|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke|MELAS											NCIT:C84885|UMLS:C0162671|ICD10:G71.3|SCTID:39925003|MESH:D017241|DOID:3687|OMIM:540000|GARD:0007009|ICD10:E88.41|Orphanet:550|MedDRA:10053872|ICD9:277.87																		owl:Class
MONDO:0004675	biolink:NamedThing	mitochondrial encephalomyopathy	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)	mondoexuq1wtf												UMLS:C0162666|SCTID:447292006|ICD9:277.87|MESH:D017237|DOID:890																		owl:Class
MONDO:0001656	biolink:NamedThing	megaesophagus	An abnormal dilation of the esophagus not due to obstruction.	mondoexuq1wtf												UMLS:C0025164|DOID:13186|NCIT:C34811|SCTID:70667005																		owl:Class
MONDO:0011913	biolink:NamedThing	Alzheimer disease 3	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.	mondoexuq1wtf	familial Alzheimer disease, type 3|PSEN1 early-onset autosomal dominant Alzheimer disease|AD3|Alzheimer disease 3, early onset|Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|familial Alzheimer's disease, type 3|AD|Alzheimer disease familial 3|Alzheimer disease, familial, 3|Alzheimer disease 3|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease 3, early-onset|Alzheimer's disease 3|Alzheimer disease early onset type 3|Alzheimer's disease type 3|Alzheimer disease type 3|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1											NCIT:C123412|DOID:0110042|OMIM:607822|MESH:C536598|GARD:0009468																		owl:Class
MONDO:0060778	biolink:NamedThing	adult Fanconi syndrome	Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset.	mondoexuq1wtf	adult Fanconi syndrome|adult Fanconi's syndrome											NCIT:C4377																		owl:Class
MONDO:0008536	biolink:NamedThing	temperature-sensitive lethal mutation		mondoexuq1wtf	temperature-sensitive lethal mutation											OMIM:187340																		owl:Class
MONDO:0035004	biolink:NamedThing	serine biosynthesis pathway deficiency, infantile/juvenile form		mondoexuq1wtf												Orphanet:583595																		owl:Class
MONDO:0024350	biolink:NamedThing	pityriasis steatoides		mondoexuq1wtf	pityriasis steatoides											UMLS:C1274781|SCTID:403426003|ICD9:696.5																		owl:Class
MONDO:0016005	biolink:NamedThing	indomethacin embryofetopathy	Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.	mondoexuq1wtf	antenatal indomethacin exposure|fetal indomethacin syndrome											Orphanet:1909|UMLS:C4275138|SCTID:715430001|UMLS:CN200656|ICD10:Q86.8|GARD:0002994																		owl:Class
MONDO:0016654	biolink:NamedThing	ring chromosome 5	Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).	mondoexuq1wtf	Ring chromosome type 5|rose cluster 5|Ring 5|chromosome 5 ring|Ring chromosome 5 syndrome|R5											UMLS:C4050064|ICD10:Q93.2|GARD:0010841|Orphanet:251043|NCIT:C121984|SCTID:765487008														https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5				owl:Class
MONDO:0007131	biolink:NamedThing	anonychia with flexural pigmentation	Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.	mondoexuq1wtf	anonychia with flexural pigmentation											Orphanet:69125|UMLS:C1862844|MESH:C566278|OMIM:106750																		owl:Class
MONDO:0060715	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 3		mondoexuq1wtf	tumoral calcinosis, hyperphosphatemic, familial, 3|HFTC3											OMIM:617994																		owl:Class
MONDO:0020408	biolink:NamedThing	complete atrioventricular canal-tetralogy of fallot syndrome		mondoexuq1wtf	CAVC-Fallot tetralogy syndrome|complete atrioventricular canal type C|CAVC type C											UMLS:CN207280|ICD10:Q21.2|Orphanet:99068																		owl:Class
MONDO:0015273	biolink:NamedThing	complete atrioventricular canal	Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.	mondoexuq1wtf	CAVC|complete atrioventricular septal defect|common atrioventricular canal											ICD10:Q21.2|Orphanet:1329|SCTID:360481003|ICD9:745.69|GARD:0001454|MESH:C535974														https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal				owl:Class
MONDO:0008232	biolink:NamedThing	phagocytosis, plasma-related defect 1N		mondoexuq1wtf	phagocytosis, plasma-related defect type 1N|phagocytosis, plasma-RELATED defect IN											UMLS:C1868402|MESH:C566808|OMIM:171100																		owl:Class
MONDO:0018139	biolink:NamedThing	scleredema		mondoexuq1wtf	Buschke scleredema											ICD10:M34.8|SCTID:95323007|Orphanet:352763|GARD:0005975																		owl:Class
MONDO:0022653	biolink:NamedThing	cardiomyopathy due to anthracyclines		mondoexuq1wtf												GARD:0001107														https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines				owl:Class
MONDO:0007308	biolink:NamedThing	Charcot-Marie-Tooth disease type 2A1	Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	mondoexuq1wtf	KIF1B Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy IIA1|Charcot-Marie-Tooth disease, neuronal, type 2A1|HMSN2A1|Charcot-Marie-Tooth disease neuronal type 2A1|CMT2A|Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A|hereditary motor and sensory neuropathy IIa1|HMSN IIA1|HMSN IIA|CMT 2A|Charcot-Marie-Tooth disease, neuronal, type 2A|CMT2A1|Charcot Marie Tooth disease type 2A|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth neuropathy, type 2A1|autosomal dominant Charcot-Marie-Tooth disease type 2A1|HMSN IIa1|Charcot-Marie-Tooth disease, axonal, type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|hereditary motor and sensory neuropathy 2 A|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B											ICD10:G60.0|GARD:0001248|DOID:0110154|NCIT:C134952|MESH:C566138|SCTID:717016001|Orphanet:99946|OMIM:118210														https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a				owl:Class
MONDO:0021746	biolink:NamedThing	pyelocystitis		mondoexuq1wtf	Pyelocystitis|Cystopyelitis											EFO:1001835|UMLS:C0034184|MESH:D053653																		owl:Class
MONDO:0006938	biolink:NamedThing	pyelitis	Inflammation of the renal pelvis.	mondoexuq1wtf	inflammation of renal pelvis|renal pelvis inflammation											MedDRA:10037584|EFO:1001140|NCIT:C34964|DOID:2744|UMLS:C0034183|SCTID:27174002|ICD10:N12|MESH:D011702																		owl:Class
MONDO:0017958	biolink:NamedThing	magic syndrome		mondoexuq1wtf	mouth and genital ulcers with inflamed cartilage											UMLS:CN204105|Orphanet:324972|GARD:0013371																		owl:Class
MONDO:0008445	biolink:NamedThing	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	mondoexuq1wtf	Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases|speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE											OMIM:182875|SCTID:716199000|GARD:0003449|UMLS:C2931119|Orphanet:3038|ICD10:Q87.0																		owl:Class
MONDO:0012701	biolink:NamedThing	cataract 12 multiple types	A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.	mondoexuq1wtf	cataract 12, multiple types|CTRCT12											ICD10:Q12.0|MESH:C566909|DOID:0110239|OMIM:611597																		owl:Class
MONDO:0032735	biolink:NamedThing	cataract 48		mondoexuq1wtf	CATARACT 48|CTRCT48											OMIM:618415|DOID:0070354																		owl:Class
MONDO:0017933	biolink:NamedThing	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.	mondoexuq1wtf	hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation											UMLS:CN204073|Orphanet:324525|ICD10:I42.2																		owl:Class
MONDO:0001876	biolink:NamedThing	renal artery atheroma	A atherosclerosis that involves the renal artery.	mondoexuq1wtf	renal artery atherosclerosis|renal atherosclerosis|atherosclerosis of renal artery											DOID:14092|ICD9:440.1|UMLS:C0155734|ICD10:I70.1|COHD:195834|SCTID:45281005																		owl:Class
MONDO:0000980	biolink:NamedThing	aortic atherosclerosis	A atherosclerosis that involves the aorta.	mondoexuq1wtf	aortic atherosclerosis (disease)|atherosclerosis of aorta|aortic atherosclerosis|aorta atherosclerosis		aortic atherosclerosis (disease)									HP:0012397|DOID:10230|UMLS:C0155733|SCTID:81817003|ICD10:I70.0|ICD9:440.0																		owl:Class
MONDO:0011047	biolink:NamedThing	deafness-epiphyseal dysplasia-short stature syndrome	This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).	mondoexuq1wtf	deafness, epiphyseal dysplasia, short stature|chitty-Hall-Baraitser syndrome|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|deafness, femoral epiphyseal dysplasia, short stature and developmental delay											SCTID:716238003|MESH:C535928|OMIM:601351|GARD:0001688|Orphanet:3218|UMLS:C1832438																		owl:Class
MONDO:0004030	biolink:NamedThing	ureter transitional cell carcinoma	A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.	mondoexuq1wtf	transitional cell carcinoma of ureter|transitional cell carcinoma of the ureter|ureter urothelial carcinoma|ureter transitional cell carcinoma|ureteral transitional cell carcinoma|urothelial cell carcinoma of ureter|urothelial cell carcinoma of the ureter|ureteral urothelial cell carcinoma|ureter urothelial cancer											SCTID:300988009|NCIT:C4830|UMLS:C0577692|EFO:1001973|DOID:6888																		owl:Class
MONDO:0019591	biolink:NamedThing	panhypopituitarism	Insufficient production of all the anterior pituitary hormones.	mondoexuq1wtf	complete hypopituitarism|Simmonds' disease|Simmond's disease											SCTID:32390006|MedDRA:10033662|UMLS:C0242343|Orphanet:90695|COHD:30365|ICD9:253.2|ICD10:E23.0|DOID:9410|NCIT:C110940																		owl:Class
MONDO:0012174	biolink:NamedThing	peripheral cone dystrophy		mondoexuq1wtf	peripheral cone dystrophy											MESH:C563813|OMIM:609021|UMLS:C1836946																		owl:Class
MONDO:0006224	biolink:NamedThing	gastric hamartomatous polyp	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.	mondoexuq1wtf	hamartoma of stomach|stomach hamartoma (disease)|hamartoma of the stomach|gastric hamartomatous polyp											SCTID:235685007|UMLS:C0341225|NCIT:C4373|EFO:1000271																		owl:Class
MONDO:0012455	biolink:NamedThing	Kleefstra syndrome	Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.	mondoexuq1wtf	chromosome 9Q34.3 deletion syndrome|9Q subtelomeric deletion syndrome|9q34.3 microdeletion syndrome|9q34 deletion syndrome|Kleefstra syndrome|chromosome 9q deletion syndrome|9Q- syndrome|9q-syndrome											DOID:0060352|OMIMPS:610253|Orphanet:261494|GARD:0008672|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome				owl:Class
MONDO:0054785	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 6		mondoexuq1wtf	multiple MITOCHONDRIAL dysfunctions syndrome 6|MMDS6											OMIM:617954|DOID:0070332|UMLS:CN244567																		owl:Class
MONDO:0010806	biolink:NamedThing	retinitis pigmentosa 13	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.	mondoexuq1wtf	retinitis pigmentosa caused by mutation in PRPF8|retinitis pigmentosa type 13|RP 13|retinitis pigmentosa 13|RP13|PRPF8 retinitis pigmentosa											DOID:0110403|GARD:0010388|UMLS:C1838702|OMIM:600059|MESH:C564008|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13				owl:Class
MONDO:0024304	biolink:NamedThing	ichthyosis vulgaris	The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.	mondoexuq1wtf	common ichthyosis|fish scale disease|ichthyosis vulgaris											GARD:0006752|NCIT:C84778														https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris				owl:Class
MONDO:0001430	biolink:NamedThing	deep corneal vascularisation		mondoexuq1wtf	deep vascularization of cornea											ICD9:370.63|DOID:12087|SCTID:2102007|UMLS:C0155095|ICD10:H16.44																		owl:Class
MONDO:0012835	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 11	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.	mondoexuq1wtf	STAT4 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 11|systemic lupus erythematosus, susceptibility to, 11|systemic lupus erythematosus (disease) caused by mutation in STAT4|SLEB11|systemic lupus erythematosus, susceptibility to, type 11											OMIM:612253																		owl:Class
MONDO:0005625	biolink:NamedThing	cerebral malaria	A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.	mondoexuq1wtf	malarial encephalitis											ICD9:084.9|ICD10:B50.0|Wikipedia:Malaria|MESH:D016779|NCIT:C128373|EFO:0006857|UMLS:C0024534|SCTID:53622003|DOID:14069																		owl:Class
MONDO:0014489	biolink:NamedThing	limb-girdle muscular dystrophy due to POMK deficiency	Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	mondoexuq1wtf	muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|MDDGC12|LGMD due to POMK deficiency|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12											Orphanet:445110|UMLS:C4015184|OMIM:616094|ICD10:G71.0																		owl:Class
MONDO:0018711	biolink:NamedThing	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome		mondoexuq1wtf												Orphanet:457365|UMLS:CN242088																		owl:Class
MONDO:0002805	biolink:NamedThing	hidradenoma	A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.	mondoexuq1wtf	eccrine acrospiroma|hidradenoma|hidradenoma of skin|acrospiroma|Syringoadenoma|sweat gland adenoma											NCIT:C7563|DOID:3896																		owl:Class
MONDO:0021110	biolink:NamedThing	sweat gland adenoma	A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.	mondoexuq1wtf	sweat gland adenoma|adenoma, sweat gland, benign|adenoma of the sweat gland|adenoma of sweat gland											NCIT:C7560|ICDO:8400/0																		owl:Class
MONDO:0005293	biolink:NamedThing	flatfoot	An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.	mondoexuq1wtf	fallen Arch|flat Foot											EFO:0003874|SCTID:53226007|ICD9:734|MESH:D005413|NCIT:C34616																		owl:Class
MONDO:0001668	biolink:NamedThing	internal pathological resorption of tooth		mondoexuq1wtf	pink tooth of mummery|internal pathologic resorption|internal resorption of tooth|internal granuloma of pulp|pathological tooth resorption - internal|pink spot lesion of tooth|internal pathological resorption|internal resorption of crown of tooth											SCTID:52994003|DOID:13239|ICD9:521.41																		owl:Class
MONDO:0001670	biolink:NamedThing	tooth resorption	Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)	mondoexuq1wtf												DOID:13240|SCTID:70931000|ICD9:521.4|MESH:D014091|ICD10:K03.3|UMLS:C0040451																		owl:Class
MONDO:0011199	biolink:NamedThing	nephropathy, progressive tubulointerstitial, with cholestatic liver disease		mondoexuq1wtf	nephropathy, progressive tubulointerstitial, with cholestatic liver disease											OMIM:602114|UMLS:C1865831|MESH:C566573																		owl:Class
MONDO:0018951	biolink:NamedThing	distal myopathy with vocal cord weakness	Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.	mondoexuq1wtf	MPD2|distal myopathy 2|MATR3-related distal myopathy|VCPDM|vocal cord and pharyngeal distal myopathy											GARD:0001887|Orphanet:600|ICD10:G71.0|UMLS:CN205357																		owl:Class
MONDO:0018066	biolink:NamedThing	trisomy X	Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).	mondoexuq1wtf	trisomy X|Triplo X syndrome|triple-X female|47,XXX|XXX syndrome|47,XXX syndrome|triple X syndrome|trisomy type X|Triplo-X syndrome|47 XXX syndrome|triple-X chromosome syndrome											NCIT:C129718|ICD10:Q97.0|UMLS:C0221033|SCTID:35111009|MESH:C535318|GARD:0005672|Orphanet:3375														https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome				owl:Class
MONDO:0007110	biolink:NamedThing	Diamond-Blackfan anemia 1	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.	mondoexuq1wtf	DBA|aregenerative Anemia, chronic congenital|Diamond-Blackfan anemia 1|Diamond-Blackfan Anemia type 1|Diamond-Blackfan anemia caused by mutation in RPS19|Aase-Smith syndrome 2|anemia, congenital erythroid hypoplastic|RPS19 Diamond-Blackfan anemia|erythrogenesis imperfecta|anemia, congenital hypoplastic, of Blackfan and Diamond|Aase syndrome|Red cell aplasia, Pure, hereditary|DBA1|Blackfan-Diamond syndrome											OMIM:105650|UMLS:C2676137																		owl:Class
MONDO:0032634	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 31		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31|MC1DN31											OMIM:618251																		owl:Class
MONDO:0015130	biolink:NamedThing	acquired chronic primary adrenal insufficiency	An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired chronic primary adrenal insufficiency											Orphanet:101963																		owl:Class
MONDO:0001178	biolink:NamedThing	pseudopterygium		mondoexuq1wtf												SCTID:66139007|DOID:11028|UMLS:C0155161|ICD9:372.52																		owl:Class
MONDO:0018931	biolink:NamedThing	mucolipidosis type III	Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.	mondoexuq1wtf	mucolipidosis type 3 alpha/beta|ML3|mucolipidosis III ALPHA/BETA|ML 3 A|ML 3 alpha/beta|ML 3 Alpha/Beta|ML 3|mucolipidosis 3|mucolipidosis III|mucolipidosis type 3A|ML III alpha/beta|mucolipidosis 3A|MLIII|mucolipidosis type III alpha/beta|mucolipidosis 3 Alpha/Beta|mucolipidosis 3 Alpha/Beta, atypical|pseudo-Hurler polydystrophy											UMLS:CN237499|Orphanet:423461|OMIM:252600|DOID:0080071|ICD10:E77.0|Orphanet:577|SCTID:65764006|GARD:0003806														https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta				owl:Class
MONDO:0014402	biolink:NamedThing	severe neurodegenerative syndrome with lipodystrophy		mondoexuq1wtf	PELD|severe neurodegenerative syndrome due to BSCL2 deficiency|encephalopathy, progressive, with or without lipodystrophy											ICD10:G31.8|UMLS:C4014700|OMIM:615924|Orphanet:363400																		owl:Class
MONDO:0013156	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4		mondoexuq1wtf	muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|muscular dystrophy, congenital, Fktn-related|MDDGB4|congenital muscular dystrophy-FKTN related|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4											OMIM:613152|UMLS:C2751052																		owl:Class
MONDO:0012740	biolink:NamedThing	chromosome 22q11.2 deletion syndrome, distal	Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.	mondoexuq1wtf	distal del(22)(q11.2)|chromosome 22q11.2 deletion syndrome, distal|distal 22q11.2 microdeletion syndrome|distal monosomy 22q11.2|distal chromosome 22Q11.2 deletion syndrome											SCTID:734029004|MESH:C567511|Orphanet:261330|OMIM:611867|DOID:0060413|UMLS:C2678480|UMLS:C4518343|ICD10:Q93.5																		owl:Class
MONDO:0002102	biolink:NamedThing	cheilitis	An inflammatory process affecting the lip.	mondoexuq1wtf	inflammation of lip|lip inflammation											MESH:D002613|DOID:1762|ICD10:K13.0|HP:0100825|UMLS:C0007971|SCTID:7847004|NCIT:C79545																		owl:Class
MONDO:0005800	biolink:NamedThing	hordeolum	An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.	mondoexuq1wtf	furuncle of eyelid|eyelid gland blepharitis|Stye|boil of eyelid|blepharitis of eyelid gland											NCIT:C118722|DOID:9909|MESH:D006726|SCTID:397513003|UMLS:C0019917|ICD10:H00.01|EFO:0007315																		owl:Class
MONDO:0016795	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA		mondoexuq1wtf	OXPHOS disease due to a duplication of mitochondrial DNA|mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mtDNA											Orphanet:254793|UMLS:CN202051																		owl:Class
MONDO:0016791	biolink:NamedThing	mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies		mondoexuq1wtf	OXPHOS disease due to mitochondrial DNA anomalies|mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mtDNA anomalies											UMLS:CN202048|Orphanet:254758																		owl:Class
MONDO:0008624	biolink:NamedThing	Upington disease	Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.	mondoexuq1wtf	hip dysplasia-enchondromata-ecchondroma syndrome|Upington disease|Perthes-like hip disease, enchondromata, and Ecchondromata|familial dyschondroplasia											GARD:0005421|ICD10:M91.8|OMIM:191520|SCTID:719041000|MESH:C536472|UMLS:C1860596|Orphanet:3408														https://rarediseases.info.nih.gov/diseases/5421/upington-disease				owl:Class
MONDO:0016306	biolink:NamedThing	Niemann-Pick disease type C, severe perinatal form		mondoexuq1wtf												Orphanet:216972|UMLS:CN201112|ICD10:E75.2																		owl:Class
MONDO:0014850	biolink:NamedThing	retinitis pigmentosa and erythrocytic microcytosis		mondoexuq1wtf	RPEM|retinitis pigmentosa and erythrocytic microcytosis|retinitis pigmentosa and erythrocytic microcytosis; RPEM											OMIM:616959|UMLS:C4310776																		owl:Class
MONDO:0008381	biolink:NamedThing	dominant pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.	mondoexuq1wtf	retinopathy, pericentral pigmentary, dominant											UMLS:C1867261|OMIM:180210|MESH:C566713|ICD10:H35.5|DOID:0110420																		owl:Class
MONDO:0011402	biolink:NamedThing	congenital cataracts-facial dysmorphism-neuropathy syndrome	Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.	mondoexuq1wtf	CCFDN|cataract, congenital, with Facial Dysmorphism and neuropathy|congenital cataracts, facial dysmorphism, and neuropathy											OMIM:604168|Orphanet:48431|ICD10:Q87.8|UMLS:C1858726|MESH:C565822|ICD9:759.89|SCTID:702433001																		owl:Class
MONDO:0024797	biolink:NamedThing	adult brain stem neoplasm	A brainstem neoplasm that occurs in an adult.	mondoexuq1wtf	neoplasm of the adult brain stem|adult brainstem tumor|adult brainstem neoplasm|neoplasm of the adult brainstem|tumor of adult brain stem|tumor of the adult brain stem|adult brain stem tumor|neoplasm of adult brain stem|tumor of adult brainstem|brainstem neoplasm of adults|adult brain stem neoplasm|tumor of the adult brainstem|neoplasm of adult brainstem											UMLS:C1332192|NCIT:C5967																		owl:Class
MONDO:0003860	biolink:NamedThing	cerebellopontine angle meningioma	A meningioma that affects the cerebellopontine angle.	mondoexuq1wtf	meningioma of the C-P angle|meningioma of the cerebellar Pontine angle|cerebellopontine angle meningioma (disease)|meningioma of C-P angle|meningioma of cerebellar Pontine angle|C-P angle meningioma|meningioma (disease) of cerebellopontine angle|cerebellar Pontine angle meningioma|meningioma of the cerebellopontine angle|meningioma of cerebellopontine angle											UMLS:C1263882|DOID:6337|NCIT:C5300|SCTID:126948004																		owl:Class
MONDO:0014060	biolink:NamedThing	progressive retinal dystrophy due to retinol transport defect		mondoexuq1wtf	retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS											OMIM:615147|ICD10:H35.5|UMLS:C3554593|Orphanet:352718																		owl:Class
MONDO:0019887	biolink:NamedThing	distal trisomy 16q	Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	mondoexuq1wtf	distal trisomy type 16q|trisomy 16qter|distal duplication 16q|telomeric duplication 16q											SCTID:764459008|Orphanet:96106|ICD10:Q92.3																		owl:Class
MONDO:0001862	biolink:NamedThing	malignant visceral pleura tumor		mondoexuq1wtf	primary malignant neoplasm of visceral pleura											SCTID:94140004|DOID:14033|UMLS:C0153496																		owl:Class
MONDO:0006294	biolink:NamedThing	pleural cancer	A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.	mondoexuq1wtf	cancer of pleura|malignant neoplasm of the pleura|pleural cancer|cancer of the pleura|neoplasm of pleura|malignant pleural neoplasm|malignant pleura neoplasm|pleura cancer|malignant neoplasm of pleura|malignant tumor of pleura|pleural tumor|malignant pleural tumor|malignant tumor of the pleura											ICD9:163.8|SCTID:363433009|UMLS:C0153494|DOID:5158|EFO:1000362|ICD10:C38.4|COHD:4180795|ICD9:163.9|NCIT:C3547|ICD9:163																		owl:Class
MONDO:0004516	biolink:NamedThing	bulbomembranous urethral cancer		mondoexuq1wtf	bulbomembranous urethral malignant neoplasm											NCIT:C39869|DOID:8259|UMLS:C1511339																		owl:Class
MONDO:0003298	biolink:NamedThing	vulvar leiomyoma	A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	mammalian vulva leiomyoma|leiomyoma of mammalian vulva|vulvar leiomyoma											NCIT:C40326|DOID:5142|UMLS:C1520087																		owl:Class
MONDO:0019902	biolink:NamedThing	monosomy 13q34	Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.	mondoexuq1wtf	Del(13)(q34)|subtelomeric deletion 13q34|monosomy type 13q34|distal deletion 13q34											SCTID:766716004|ICD10:Q93.5|Orphanet:96168																		owl:Class
MONDO:0016381	biolink:NamedThing	hypertrichosis lanuginosa congenita	Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.	mondoexuq1wtf	congenital hypertrichosis lanuginosa|hypertrichosis universalis|hypertrichosis lanuginosa congenita|hypertrichosis lanuginosa universalis											GARD:0002865|SCTID:201163007|OMIM:145700|Orphanet:2222|ICD10:Q84.2|MESH:C538389																		owl:Class
MONDO:0017251	biolink:NamedThing	congenital pulmonary airway malformation type 3		mondoexuq1wtf	congenital cystic adenomatoid malformation of the lung type 3|CPAM type 3|congenital cystic adenomatous malformation of the lung type 3|congenital cystic disease of the lung type 3|CCAM type 3											Orphanet:280847|ICD10:Q33.0																		owl:Class
MONDO:0016580	biolink:NamedThing	congenital pulmonary airway malformation	An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.	mondoexuq1wtf	congenital cystic disease of the lung|congenital cystic adenomatoid malformation of the lung|CPAM|congenital cystic adenomatoid malformation of lung|congenital cystic adenomatous malformation of the lung|cystic adenomatoid malformation of lung|CCAM|congenital cystic adenomatoid malformation											Orphanet:2444|ICD10:Q33.0|MESH:D015615|GARD:0006232|SCTID:111318005|NCIT:C98892																		owl:Class
MONDO:0000706	biolink:NamedThing	chemical colitis	A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.	mondoexuq1wtf												SCTID:72965009|DOID:0060186|ICD9:558|ICD9:558.9|ICD10:K52																		owl:Class
MONDO:0006514	biolink:NamedThing	recalcitrant atopic dermatitis	Moderate to severe atopic dermatitis with allergic sensitisation.	mondoexuq1wtf												EFO:1000651|PMID:25935106																		owl:Class
MONDO:0003417	biolink:NamedThing	internuclear ophthalmoplegia		mondoexuq1wtf												SCTID:49823009|ICD9:378.86|DOID:538|ICD10:H51.2|UMLS:C0152134|COHD:376698																		owl:Class
MONDO:0014781	biolink:NamedThing	combined oxidative phosphorylation deficiency 29	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.	mondoexuq1wtf	TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29; COXPD29|combined oxidative phosphorylation deficiency caused by mutation in TXN2|COXPD29|combined oxidative phosphorylation deficiency type 29|combined oxidative phosphorylation deficiency 29											OMIM:616811|DOID:0111501|UMLS:C4225200																		owl:Class
MONDO:0032802	biolink:NamedThing	deafness, autosomal dominant 37		mondoexuq1wtf	DEAFNESS, AUTOSOMAL DOMINANT 37|DFNA37											OMIM:618533																		owl:Class
MONDO:0033717	biolink:NamedThing	congenital cerebellar ataxia due to RNU12 mutation	A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	mondoexuq1wtf												Orphanet:512260																		owl:Class
MONDO:0013892	biolink:NamedThing	C3 glomerulonephritis	Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.	mondoexuq1wtf	CFHR5 deficiency|complement-mediated membranoproliferative glomerulonephritis											ICD10:N00.5|NCIT:C123043|UMLS:CN187045|UMLS:C3553720|Orphanet:329931|OMIM:614809|UMLS:C4055342																		owl:Class
MONDO:0004918	biolink:NamedThing	central corneal ulcer		mondoexuq1wtf												ICD9:370.03|DOID:9910|COHD:380402|SCTID:7426009|UMLS:C0155069|ICD10:H16.01																		owl:Class
MONDO:0010440	biolink:NamedThing	autism, susceptibility to, X-linked 4		mondoexuq1wtf	autism, susceptibility to, X-linked 4|X-linked susceptibility to autism-4|autism, susceptibility to, X-linked type 4|chromosome Xp22 deletion syndrome|susceptibility to X-linked autism 4|susceptibility to autism, X-linked|AUTSX4											GARD:0003775|OMIM:300830														https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4				owl:Class
MONDO:0003092	biolink:NamedThing	lacrimal gland mucoepidermoid carcinoma	An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.	mondoexuq1wtf	mucoepidermoid carcinoma of the lacrimal gland|mucoepidermoid carcinoma of lacrimal gland|lacrimal gland mucoepidermoid carcinoma											DOID:4685|NCIT:C6091|UMLS:C1334359																		owl:Class
MONDO:0017896	biolink:NamedThing	familial nonmedullary thyroid carcinoma	Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.	mondoexuq1wtf	thyroid cancer, nonmedullary					Note the OMIM phenotypic series lacks a member classified by ORDO						OMIMPS:188550|ICD10:C73|DC:0000711|UMLS:CN227216|Orphanet:319494|UMLS:C3501843																		owl:Class
MONDO:0011740	biolink:NamedThing	Carney-Stratakis syndrome	Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	mondoexuq1wtf	paraganglioma and gist|Carney-Stratakis syndrome|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|Carney dyad|Carney-Stratakis dyad|gist-paraganglioma dyad|paraganglioma and gastrointestinal stromal tumor|paraganglioma and gastric stromal sarcoma											MESH:C564650|Orphanet:97286|ICD10:D44.8|GARD:0010643|DOID:0080533|SCTID:722377004|OMIM:606864|UMLS:C1847319|NCIT:C94831																		owl:Class
MONDO:0006733	biolink:NamedThing	dry eye syndrome	A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.	mondoexuq1wtf	dry eye|keratoconjunctivitis sicca|tear film insufficiency|sicca, keratoconjunctivitis|eye(s), dry|KCS|dry eye syndrome|dry eye(s)											COHD:378427|MESH:D007638|DOID:12895|MedDRA:100233350|SCTID:302896008|UMLS:C0022575|EFO:1001001|UMLS:C0013238|SCTID:46152009|MESH:D015352|DOID:10140|MedDRA:10013777|ICD9:375.15|ICD10:H04.12|EFO:1000906|NCIT:C34553																		owl:Class
MONDO:0019432	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis	Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.	mondoexuq1wtf	juvenile rheumatoid factor-negative polyarthritis|polyarthritis without rheumatoid factor|rheumatoid factor-negative JIA											Orphanet:85408|ICD10:M08.3																		owl:Class
MONDO:0001502	biolink:NamedThing	retroperitoneum carcinoma	A carcinoma that arises from epithelial cells of the retroperitoneal space.	mondoexuq1wtf	carcinoma of retroperitoneum|carcinoma of retroperitoneal space|retroperitoneal space carcinoma|retroperitoneal carcinoma|carcinoma of the retroperitoneum|retroperitoneal cancer											DOID:12342|NCIT:C7352|UMLS:C0948749																		owl:Class
MONDO:0010936	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.	mondoexuq1wtf	frontotemporal dementia, chromosome 3-linked|CHMP2B-related amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in CHMP2B|dementia, familial nonspecific|FTD3|amyotrophic lateral sclerosis, Chmp2B-related|Dmt1|CHMP2B amyotrophic lateral sclerosis											SCTID:702393003|MESH:C579991|ICD9:331.19|DOID:0060208|DOID:0111227|UMLS:C1833296|UMLS:C1836076|MESH:C563708|OMIM:614696|OMIM:600795																		owl:Class
MONDO:0024574	biolink:NamedThing	von Willebrand disease (hereditary or acquired)	Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.	mondoexuq1wtf	von Willebrand disease|VWD|von Willebrand disorder|von Willebrand's disease											COHD:434316|ICD10:D68.0|NCIT:C68677|MESH:D014842|ICD9:286.4|SCTID:128105004																		owl:Class
MONDO:0019324	biolink:NamedThing	pemphigus foliaceus	Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.	mondoexuq1wtf	PF											GARD:0007354|SCTID:35154004|EFO:0008601|UMLS:C0263313|MedDRA:10057069|Orphanet:79481|HGNC:3050|ICD10:L10.2														https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus				owl:Class
MONDO:0018745	biolink:NamedThing	superficial pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants.	mondoexuq1wtf												Orphanet:46485|ICD10:L10.3|ICD10:L10.2|UMLS:CN227541|ICD10:L10.4																		owl:Class
MONDO:0008203	biolink:NamedThing	Passovoy factor defect		mondoexuq1wtf	Passovoy factor defect											UMLS:C3149707|OMIM:168830																		owl:Class
MONDO:0033665	biolink:NamedThing	deafness, autosomal dominant 78		mondoexuq1wtf	DFNA78											OMIM:619081																		owl:Class
MONDO:0013104	biolink:NamedThing	basal cell carcinoma, susceptibility to, 4		mondoexuq1wtf	basal cell carcinoma, susceptibility to, 4|BCC4											OMIM:613061|UMLS:C2751602																		owl:Class
MONDO:0013005	biolink:NamedThing	EAST syndrome	SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).	mondoexuq1wtf	seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|EAST syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|sesame syndrome|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|epilepsy, ataxia, sensorineural deafness and tubulopathy|SESAMES|epilepsy, ataxia, sensorineural deafness, and tubulopathy											SCTID:721207002|Orphanet:199343|DOID:0060484|GARD:0010514|UMLS:C2748572|OMIM:612780|MESH:C557674																		owl:Class
MONDO:0015380	biolink:NamedThing	facial dermoid cyst	Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.	mondoexuq1wtf	dermoid cyst of the face											Orphanet:141051|SCTID:763220008|ICD10:Q18.8																		owl:Class
MONDO:0006723	biolink:NamedThing	denture stomatitis	Inflammation of the mouth due to denture irritation.	mondoexuq1wtf	denture sore mouth											EFO:1000893|UMLS:C0038364|DOID:11875|MESH:D013282|ICD10:K12.1|ICD9:528.9|SCTID:69254008																		owl:Class
MONDO:0021316	biolink:NamedThing	malignant tumor of minor salivary gland	A cancer that involves the minor salivary gland.	mondoexuq1wtf	malignant neoplasm of the minor salivary gland|minor salivary gland cancer|malignant minor salivary gland tumor|malignant tumor of the minor salivary gland|malignant minor salivary gland neoplasm|malignant neoplasm of minor salivary gland|cancer of minor salivary gland											SCTID:363485006|NCIT:C4410|UMLS:C0345614																		owl:Class
MONDO:0004727	biolink:NamedThing	vestibule of mouth cancer	A cancer that involves the oral opening.	mondoexuq1wtf	malignant neoplasm of oral opening|cancer of oral opening|malignant neoplasm of vestibule of mouth|malignant tumor of vestibule of mouth|oral opening cancer|malignant oral opening neoplasm											COHD:4090226|DOID:9188|ICD10:C06.1|SCTID:187658004|ICD9:145.1|UMLS:C0153374																		owl:Class
MONDO:0018571	biolink:NamedThing	contractures-developmental delay-Pierre Robin syndrome		mondoexuq1wtf	5q23 microdeletion syndrome											ICD10:Q87.0|Orphanet:436003|UMLS:CN237584																		owl:Class
MONDO:0015320	biolink:NamedThing	Pierre Robin syndrome associated with a chromosomal anomaly		mondoexuq1wtf	Pierre Robin sequence associated with a chromosomal anomaly											UMLS:CN199291|Orphanet:138047														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0010125	biolink:NamedThing	upper limb defect-eye and ear abnormalities syndrome	Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	mondoexuq1wtf	thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness											ICD10:Q87.8|OMIM:274205|UMLS:C1848816|MESH:C564769|Orphanet:2489																		owl:Class
MONDO:0016268	biolink:NamedThing	papillary carcinoma of the corpus uteri	A papillary carcinoma that involves the body of uterus.	mondoexuq1wtf	body of uterus papillary carcinoma|endometrial capillary carcinoma					Editor note: check relationship to MONDO:0006196						UMLS:CN201057|ICD10:C54.1|Orphanet:213726																		owl:Class
MONDO:0010653	biolink:NamedThing	Renpenning syndrome	Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.	mondoexuq1wtf	intellectual disability, X-linked, with spastic diplegia|intellectual disability, X-linked Renpenning type|mental retardation, X-linked, syndromic 8|Sutherland-Haan syndrome|intellectual disability, X-linked, syndromic 3|X-linked mental retardation with spastic diplegia|Sutherland-Haan X-linked intellectual disability syndrome|X-linked intellectual disability syndromic 3|RENS1|intellectual disability, X-linked, Renpenning type|mental retardation, X-linked, Renpenning type|MRXS8|mental retardation, X-linked, with spastic diplegia|X-linked intellectual disability Renpenning type|mental retardation, X-linked 55|X-linked intellectual disability due to PQBP1 mutations|Sutherland-Haan X-linked mental retardation syndrome|intellectual disability, X-linked, syndromic 8|syndromic X-linked mental retardation 8|MRXS3|intellectual disability, X-linked 55|X-linked mental retardation syndromic 3|mental retardation, X-linked, syndromic 3|X-linked intellectual disability, Renpenning type|Renpenning syndrome type 1|Golabi-Ito-Hall syndrome|X-linked intellectual disability with spastic diplegia|mental retardation, X-linked Renpenning type|syndromic X-linked intellectual disability 8|Renpenning syndrome 1|X-linked mental retardation Renpenning type											GARD:0009509|OMIM:309500|Orphanet:3242|ICD10:Q87.5|UMLS:C0796135|DOID:0060179|MESH:C537761|ICD9:759.89|SCTID:699669001																		owl:Class
MONDO:0003670	biolink:NamedThing	posteroinferior myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.	mondoexuq1wtf	posteroinferior myocardial infarction by ECG finding|posteroinferior myocardial infarction by EKG finding					Editor note: TODO: positional superclass						DOID:5843																		owl:Class
MONDO:0025404	biolink:NamedThing	coronaviral enteritis of turkeys	An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.	mondoexuq1wtf	enteritis, transmissible, of turkeys|Bluecomb of turkeys|coronaviral enteritis of turkeys|transmissible enteritis of turkeys											UMLS:C0014342|MESH:D004753																		owl:Class
MONDO:0025113	biolink:NamedThing	poultry disease	Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.	mondoexuq1wtf	diseases, poultry|poultry disease|disease, poultry											MESH:D011201|UMLS:C0032851																		owl:Class
MONDO:0043071	biolink:NamedThing	Zazam Sheriff Phillips syndrome		mondoexuq1wtf	aniridia, lens luxation, intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability|aniridia, lens luxation, mental retardation											GARD:0000339|MESH:C536723|UMLS:C2931300																		owl:Class
MONDO:0014999	biolink:NamedThing	tooth agenesis, selective, 9	Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.	mondoexuq1wtf	tooth agenesis, selective, 9|tooth agenesis caused by mutation in GREM2|STHAG9|tooth agenesis, selective, 9; STHAG9|GREM2 tooth agenesis|tooth agenesis, selective, type 9											OMIM:617275																		owl:Class
MONDO:0011068	biolink:NamedThing	type 1 diabetes mellitus 12	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 12|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, type 12|CTLA4 type 1 diabetes mellitus|IDDM12|type 1 diabetes mellitus caused by mutation in CTLA4											UMLS:C1832392|ICD10:E10|OMIM:601388|DOID:0110751|MESH:C563326																		owl:Class
MONDO:0005471	biolink:NamedThing	neurally mediated hypotension	Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal	mondoexuq1wtf												EFO:0005254																		owl:Class
MONDO:0044956	biolink:NamedThing	paranasal sinus mucoepidermoid carcinoma	A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.	mondoexuq1wtf	mucoepidermoid carcinoma of accessory sinus|mucoepidermoid carcinoma of the paranasal sinus|paranasal sinus mucoepidermoid carcinoma|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of paranasal sinus											NCIT:C6018																		owl:Class
MONDO:0024431	biolink:NamedThing	bilirubin metabolism disease		mondoexuq1wtf	disorder of bilirubin metabolism											SCTID:80006005																		owl:Class
MONDO:0022417	biolink:NamedThing	alopecia congenita keratosis palmoplantaris		mondoexuq1wtf	alopecia congenita with hyperkeratosis of the palms and soles|alopecia congenita with keratosis palmoplantaris											MESH:C537050																		owl:Class
MONDO:0004876	biolink:NamedThing	myocardial stunning	Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.	mondoexuq1wtf												DOID:9767|MESH:D017682|UMLS:C0206146																		owl:Class
MONDO:0017097	biolink:NamedThing	isolated focal cortical dysplasia type Ib		mondoexuq1wtf	FCD type IB											Orphanet:268980|ICD10:Q04.8|UMLS:CN202454																		owl:Class
MONDO:0017095	biolink:NamedThing	isolated focal cortical dysplasia type I		mondoexuq1wtf	FCD type I											Orphanet:268961|ICD10:Q04.8|UMLS:CN202452																		owl:Class
MONDO:0017530	biolink:NamedThing	polysyndactyly, bilateral		mondoexuq1wtf	preaxial polydactyly type 4, bilateral											ICD10:Q70.4|UMLS:CN203261|Orphanet:295161																		owl:Class
MONDO:0021366	biolink:NamedThing	neoplasm of middle ear	A neoplasm (disease) that involves the middle ear.	mondoexuq1wtf	middle Ear neoplasm|tumor of middle ear|tumor of the middle Ear|tumor of middle Ear|middle ear neoplasm|neoplasm of the middle Ear|middle ear neoplasm (disease)|neoplasm of middle ear|middle Ear tumor|middle ear tumor											ICD9:239.89|NCIT:C4412|SCTID:127006003																		owl:Class
MONDO:0019933	biolink:NamedThing	acromegaly	Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.	mondoexuq1wtf	pituitary giant|somatotroph adenoma|Growth hormone excess											UMLS:C0001206|MESH:D000172|DOID:2449|EFO:1001485|MedDRA:10000599|GARD:0005725|Orphanet:963|SCTID:74107003|NCIT:C84533|ICD10:E22.0														https://rarediseases.info.nih.gov/diseases/5725/acromegaly				owl:Class
MONDO:0044300	biolink:NamedThing	familial adenomatous polyposis 4	Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100).	mondoexuq1wtf	familial adenomatous polyposis 4|FAP4|familial adenomatous polyposis type 4										MONDO:0014913	OMIM:617100|DOID:0080412																		owl:Class
MONDO:0007231	biolink:NamedThing	brachytelephalangy-dysmorphism-Kallmann syndrome	Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	mondoexuq1wtf	BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome											MESH:C537101|Orphanet:1295|OMIM:113480|UMLS:C2931421|ICD10:Q87.0																		owl:Class
MONDO:0012036	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 4		mondoexuq1wtf	SLEB4|systemic lupus erythematosus, susceptibility to, 4											OMIM:608437																		owl:Class
MONDO:0016819	biolink:NamedThing	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.	mondoexuq1wtf												Orphanet:2560|UMLS:C2931024																		owl:Class
MONDO:0045045	biolink:NamedThing	selective IgG immunodeficiency	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.	mondoexuq1wtf	IgG deficiency|selective IgG immunodeficiency|IgG subclass deficiency											GARD:0010371|NCIT:C27142|UMLS:C0162539|SCTID:12631000119106																		owl:Class
MONDO:0043114	biolink:NamedThing	Landy-Donnai syndrome		mondoexuq1wtf	hydrops, ectrodactyly, syndactyly, duplication of the great toes											UMLS:C2931460|MESH:C537266|GARD:0003172																		owl:Class
MONDO:0002050	biolink:NamedThing	depressive disorder	A melancholy feeling of sadness and despair.	mondoexuq1wtf	syndrome, depressive|mental depression|depression|syndromes, depressive|melancholia|melancholias											DOID:1596|ICD10:F33.9|MESH:D003866|ICD10:F32.9|UMLS:CN236658|NCIT:C2982|ICD10:F32|MFOMD:0000013|SCTID:35489007|ICD9:311																		owl:Class
MONDO:0021296	biolink:NamedThing	carcinoma in situ of renal pelvis	A in situ carcinoma that involves the renal pelvis.	mondoexuq1wtf	stage 0is carcinoma of renal pelvis|stage 0is renal pelvis cancer|stage 0is carcinoma of kidney pelvis|stage 0is kidney renal pelvis urothelial cancer|renal pelvis carcinoma in situ|kidney pelvis carcinoma in situ|carcinoma in situ of renal pelvis|stage 0is carcinoma of the kidney pelvis|stage 0is renal pelvis urothelial carcinoma|carcinoma in situ of the renal pelvis|stage 0 renal pelvis carcinoma|renal pelvis in situ carcinoma|stage 0is renal pelvis urothelial carcinoma aJCC v7|stage 0is renal pelvis cancer aJCC v7|carcinoma in situ of kidney pelvis|stage 0is carcinoma of the renal pelvis|stage 0is kidney pelvis carcinoma|carcinoma in situ of the kidney pelvis											ICD9:233.9|SCTID:92697000|UMLS:C0347184|NCIT:C4597																		owl:Class
MONDO:0004732	biolink:NamedThing	kidney carcinoma in situ	A carcinoma in situ involving a kidney.	mondoexuq1wtf	carcinoma in situ of kidney|stage 0 kidney carcinoma|kidney in situ carcinoma											DOID:9234|SCTID:92624000|ICD9:233.9|ICD10:D09.1|UMLS:C0686172																		owl:Class
MONDO:0000252	biolink:NamedThing	inflammatory diarrhea	An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.	mondoexuq1wtf												DOID:0050132|SCTID:95544006																		owl:Class
MONDO:0015406	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome type 1		mondoexuq1wtf	CAMS1											UMLS:C3840102|UMLS:CN199501|SCTID:703267003|Orphanet:141194|ICD10:Q28.2																		owl:Class
MONDO:0015405	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome	A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.	mondoexuq1wtf	CAMS											SCTID:703266007|ICD10:Q28.2|Orphanet:141189|UMLS:CN199500|UMLS:C3839265																		owl:Class
MONDO:0005892	biolink:NamedThing	otitis media with effusion	Otitis media associated with accumulation of fluid in the middle ear.	mondoexuq1wtf	OME|serous otitis Media|secretory otitis Media											EFO:0007415|MESH:D010034|ICD9:381.20|NCIT:C34886|ICD9:381.29|SCTID:78868004																		owl:Class
MONDO:0021206	biolink:NamedThing	chronic non-suppurative otitis media	Chronic form of non-suppurative otitis media.	mondoexuq1wtf	non-suppurative otitis media, chronic											ICD9:381.3|COHD:376425|SCTID:232254004|UMLS:C0395869																		owl:Class
MONDO:0018511	biolink:NamedThing	epithelial tumor of the appendix	A epithelial neoplasm that involves the vermiform appendix.	mondoexuq1wtf	vermiform appendix epithelial neoplasm|appendiceal epithelial tumor											UMLS:CN237516|Orphanet:423982																		owl:Class
MONDO:0006866	biolink:NamedThing	neonatal myasthenia gravis	A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)	mondoexuq1wtf	neonatal myasthenia gravis											SCTID:82178003|EFO:1001059|MedDRA:10028963|DOID:14043|ICD9:775.2|MESH:D020941																		owl:Class
MONDO:0006539	biolink:NamedThing	diffuse lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.	mondoexuq1wtf	diffuse lipomatosis											DOID:3923|NCIT:C6504|UMLS:C1333298|EFO:1000687																		owl:Class
MONDO:0030971	biolink:NamedThing	immunodeficiency 78 with autoimmunity and developmental delay		mondoexuq1wtf	immunodeficiency 78 with autoimmunity and developmental delay|TPP2 deficiency|IMD78											OMIM:619220																		owl:Class
MONDO:0017952	biolink:NamedThing	non-familial rare disease with dilated cardiomyopathy		mondoexuq1wtf												UMLS:CN204097|Orphanet:324767																		owl:Class
MONDO:0016948	biolink:NamedThing	partial duplication of the short arm of chromosome 11		mondoexuq1wtf	partial duplication of the short arm of chromosome type 11|partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial trisomy of chromosome 11p											Orphanet:262785																		owl:Class
MONDO:0001534	biolink:NamedThing	ocular hyperemia		mondoexuq1wtf	hyperemia eye|hyperemia of conjunctiva											DOID:1248|SCTID:359610006|UMLS:C0155169																		owl:Class
MONDO:0020716	biolink:NamedThing	familial thyroid dyshormonogenesis 1		mondoexuq1wtf	TDH1|thyroid dyshormonogenesis 1|iodine accumulation, transport, or trapping defect|thyroid hormonogenesis, genetic defect in, 1|hypothyroidism, congenital, due to dyshormonogenesis, 1|thyroid dyshormonogenesis type 1											OMIM:274400																		owl:Class
MONDO:0014986	biolink:NamedThing	Fanconi anemia complementation group R	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.	mondoexuq1wtf	Fanconi anemia caused by mutation in RAD51|Fanconi Anemia, complementation group R|Fanconi anemia, complementation GROUP R|FANCR|Fanconi Anemia, complementation group type R|RAD51 Fanconi anemia|Fanconi anemia complementation group type R											UMLS:C4284093|DOID:0111090|OMIM:617244																		owl:Class
MONDO:0014138	biolink:NamedThing	nemaline myopathy 8	An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.	mondoexuq1wtf	KLHL40 nemaline myopathy|nemaline myopathy caused by mutation in KLHL40|nemaline myopathy 8|nemaline myopathy type 8|NEM8|nemaline myopathy 8, autosomal recessive											OMIM:615348|UMLS:C3809209|NCIT:C129871|DOID:0110930																		owl:Class
MONDO:0006013	biolink:NamedThing	visna disease	Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie.	mondoexuq1wtf	Visna/maedi virus infectious disease|Visna/maedi virus disease or disorder|Visna/maedi virus caused disease or disorder											UMLS:C0080323|EFO:0007542|MESH:D016182																		owl:Class
MONDO:0014361	biolink:NamedThing	autism spectrum disorder due to AUTS2 deficiency	Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.	mondoexuq1wtf	MRD26|autosomal dominant mental retardation 26|intellectual disability type 26|AUTS2 syndrome|autosomal dominant non-syndromic intellectual disability 26|ASD due to AUTS2 deficiency|mental retardation, autosomal dominant 26|mental retardation, autosomal dominant type 26											UMLS:C4014435|ICD10:F84.1|Orphanet:352490|OMIM:615834|DOID:0070056																		owl:Class
MONDO:0014492	biolink:NamedThing	woolly hair-palmoplantar keratoderma syndrome	Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	mondoexuq1wtf	palmoplantar keratoderma and woolly hair|PPKWH|keratoderma with woolly hair type IV|KWWH type IV|woolly hair-palmoplantar hyperkeratosis syndrome											OMIM:616099|ICD10:Q82.8|Orphanet:420686|UMLS:C4015202|SCTID:764108000																		owl:Class
MONDO:0019943	biolink:NamedThing	hereditary continuous muscle fiber activity	Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	mondoexuq1wtf	continuous muscle fiber activity hereditary											UMLS:C1834559|Orphanet:972|GARD:0001512|ICD10:G71.1														https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary				owl:Class
MONDO:0016914	biolink:NamedThing	partial deletion of the long arm of chromosome 16		mondoexuq1wtf	partial monosomy of chromosome 16q|partial deletion of the long arm of chromosome type 16|partial deletion of chromosome 16q|partial monosomy of the long arm of chromosome 16											ICD10:Q93.5|Orphanet:262128																		owl:Class
MONDO:0040674	biolink:NamedThing	orgasm disorder		mondoexuq1wtf	orgasm disorder|abnormal orgasm|orgasmic dysfunction											ICD10:F52.3|SCTID:82636008																		owl:Class
MONDO:0020231	biolink:NamedThing	cardiac disease with cataract		mondoexuq1wtf												UMLS:CN207059|Orphanet:98647																		owl:Class
MONDO:0023232	biolink:NamedThing	giant cell myocarditis	An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.	mondoexuq1wtf	GCM|idiopathic giant-cell myocarditis|giant cell myocarditis											UMLS:C0264856|NCIT:C97055|SCTID:60812006|GARD:0006502														https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis				owl:Class
MONDO:0100089	biolink:NamedThing	GATA1-Related X-Linked Cytopenia	X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.	mondoexuq1wtf	GATA1-Related Cytopenia							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0022757	biolink:NamedThing	chromosome 20 trisomy	Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.	mondoexuq1wtf	trisomy 20|mosaic trisomy 20|trisomy 20 mosaicism|trisomy chromosome 20											MESH:C535372|GARD:0005332|NCIT:C36397|UMLS:C0265479														https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy				owl:Class
MONDO:0008510	biolink:NamedThing	symphalangism with multiple anomalies of hands and feet	Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.	mondoexuq1wtf	symphalangism with multiple anomalies of hands and feet|Learman syndrome											OMIM:185750|UMLS:C1861391|GARD:0005077|Orphanet:3246|ICD10:Q74.8|MESH:C566098|SCTID:732955001														https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet				owl:Class
MONDO:0016115	biolink:NamedThing	bulbospinal muscular atrophy of adulthood	A bulbospinal muscular atrophy that occurs in an adult.	mondoexuq1wtf	bulbospinal muscular atrophy of adult|bulbospinal muscular atrophy of adults|adult bulbospinal muscular atrophy											ICD10:G12.2|Orphanet:206707																		owl:Class
MONDO:0054696	biolink:NamedThing	immunodeficiency 53		mondoexuq1wtf	IMD53|immunodeficiency 53											UMLS:C4539811|OMIM:617585																		owl:Class
MONDO:0013738	biolink:NamedThing	autosomal recessive nonsyndromic deafness 96	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.	mondoexuq1wtf	DFNB96|deafness, autosomal recessive 96|autosomal recessive nonsyndromic deafness type 96|autosomal recessive deafness 96											DOID:0110538|ICD10:H90.3|OMIM:614414																		owl:Class
MONDO:0013026	biolink:NamedThing	subepithelial mucinous corneal dystrophy	Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.	mondoexuq1wtf	SMCD|subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous											Orphanet:98959|ICD10:H18.5|UMLS:C2748503|SCTID:723582004|MESH:C567547|OMIM:612867|DOID:0060454																		owl:Class
MONDO:0009947	biolink:NamedThing	glutathione synthetase deficiency with 5-oxoprolinuria		mondoexuq1wtf	GSSD|glutathione synthetase deficiency|pyroglutamic aciduria|5-oxoprolinuria											SCTID:39112005|ICD9:270.8|ICD10:D55.1|Orphanet:289846|OMIM:266130																		owl:Class
MONDO:0016668	biolink:NamedThing	sickle cell-beta-thalassemia disease syndrome	Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.	mondoexuq1wtf	Hb S-Beta thalassemia|sickle cell-Beta thalassemia|HbS-beta-thalassemia syndrome|S-Beta thalassemia|HbS - beta-thalassemia|sickle cell - beta-thalassemia disease|Hemoglobin sickle-beta thalassemia|Hb S beta-thalassemia|sickle cell-Beta-thalassemia|sickle beta thalassemia|sickle cell-beta-thalassemia disease syndrome											NCIT:C95539|GARD:0010333|ICD10:D57.2|MedDRA:10055579|SCTID:127041004|MedDRA:10040655|Orphanet:251359														https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia				owl:Class
MONDO:0016667	biolink:NamedThing	sickle cell disease associated with an other hemoglobin anomaly		mondoexuq1wtf	Double heterozygotes sickling disorder											Orphanet:251355|ICD10:D57.2|UMLS:CN201907|GARD:0012459														https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly				owl:Class
MONDO:0013973	biolink:NamedThing	ectodermal dysplasia 5, hair/nail type		mondoexuq1wtf	ECTD5|ectodermal dysplasia 5, hair/nail type											UMLS:C3554108|OMIM:614927|DOID:0111657																		owl:Class
MONDO:0001523	biolink:NamedThing	luxation of globe		mondoexuq1wtf	luxation of eye											ICD9:360.81|SCTID:20842008|UMLS:C0154806|DOID:1241|ICD10:H44.82																		owl:Class
MONDO:0002443	biolink:NamedThing	bruxism	Excessive clenching of the jaw and grinding of the teeth.	mondoexuq1wtf	teeth grinding|bruxism (disease)|bruxism - teeth grinding|bruxism|sleep related bruxism|grinding teeth		bruxism (disease)									ICD10:G47.63|HP:0003763|DOID:2846|ICD9:327.53|ICD10:F45.8																		owl:Class
MONDO:0033370	biolink:NamedThing	developmental and epileptic encephalopathy, 61		mondoexuq1wtf	DEE61|EIEE61|epileptic encephalopathy, early infantile, 61											UMLS:CN244550|OMIM:617933|DOID:0080434																		owl:Class
MONDO:0008028	biolink:NamedThing	muscular dystrophy, Barnes type		mondoexuq1wtf	muscular dystrophy, Barnes type											MESH:C563558|UMLS:C1834688|OMIM:158800																		owl:Class
MONDO:0020121	biolink:NamedThing	muscular dystrophy	Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.	mondoexuq1wtf												ICD9:359.1|Orphanet:98473|DOID:9884|MedDRA:10028356|COHD:4247802|UMLS:C0026850|SCTID:73297009|ICD10:G71.0|NCIT:C84910|MESH:D009136|GARD:0007922														https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy				owl:Class
MONDO:0011167	biolink:NamedThing	type 1 diabetes mellitus 6	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 6|insulin-dependent diabetes mellitus 6|IDDM6|autoimmune thyroid disease, susceptibility to, 5											UMLS:C1866041|DOID:0110745|MESH:C566603|ICD10:E10|OMIM:601941																		owl:Class
MONDO:0004174	biolink:NamedThing	secretory uterine corpus endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.	mondoexuq1wtf	secretory uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma, secretory variant											ICDO:8382/3|NCIT:C27839|DOID:7289|UMLS:C1336907																		owl:Class
MONDO:0018762	biolink:NamedThing	non-acquired combined pituitary hormone deficiency	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.	mondoexuq1wtf	congenital hypopituitarism|congenital combined pituitary hormone deficiency											Orphanet:467|ICD10:E23.0																		owl:Class
MONDO:0011200	biolink:NamedThing	torsion dystonia 7	A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.	mondoexuq1wtf	dystonia 7, torsion|torsion dystonia type 7|torsion dystonia, focal adult-onset|DYT7|cervical dystonia, primary											MESH:C566572|OMIM:602124|Orphanet:93963|DOID:0090040																		owl:Class
MONDO:0022770	biolink:NamedThing	circumscribed cutaneous aplasia of the vertex		mondoexuq1wtf												GARD:0001365														https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex				owl:Class
MONDO:0003943	biolink:NamedThing	central nervous system hibernoma	A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.	mondoexuq1wtf	nervous system hibernoma|hibernoma of the central nervous system|hibernoma of nervous system|hibernoma of central nervous system|central nervous system hibernoma											DOID:6607|NCIT:C6997|UMLS:C1708362																		owl:Class
MONDO:0003844	biolink:NamedThing	central nervous system lipoma	A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.	mondoexuq1wtf	CNS lipoma|lipoma of the central nervous system|central nervous system lipoma|lipoma of central nervous system|lipoma of the CNS|lipoma of CNS											DOID:6293|NCIT:C5451|UMLS:C1332885																		owl:Class
MONDO:0003901	biolink:NamedThing	cerebellar hemangioblastoma	A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).	mondoexuq1wtf	cerebellum hemangioblastoma|hemangioblastoma of cerebellum|cerebellar hemangioblastoma|cerebellar capillary hemangioblastoma|angioblastoma of the cerebellum|cerebellar angioblastoma|hemangioblastoma of the cerebellum|angioblastoma of cerebellum											UMLS:C1332900|NCIT:C5146|DOID:6500																		owl:Class
MONDO:0021499	biolink:NamedThing	benign neoplasm of cerebellum	A benign neoplasm that involves the cerebellum.	mondoexuq1wtf	neoplasms, cerebellar, benign|benign neoplasm of the cerebellum|benign cerebellar neoplasms|benign cerebellar neoplasm|benign tumor of the cerebellum|benign cerebellar tumor|benign tumor of cerebellum|cerebellar neoplasms, benign|neoplasms, benign, cerebellar|cerebellum benign neoplasm											SCTID:92050000|NCIT:C4955																		owl:Class
MONDO:0001721	biolink:NamedThing	urethral intrinsic sphincter deficiency		mondoexuq1wtf	intrinsic (urethral) sphincter deficiency [ISD]											ICD10:N36.42|UMLS:C0375381|DOID:13461|ICD9:599.82																		owl:Class
MONDO:0008636	biolink:NamedThing	double uterus-hemivagina-renal agenesis syndrome	Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.	mondoexuq1wtf	Double uterus and obstructed hemivagina syndrome|obstructed hemivagina and ipsilateral renal anomaly|Wunderlich syndrome|OHVIRA syndrome|Herlyn-Werner syndrome|uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis											Orphanet:3411|SCTID:722431007|OMIM:192050|MESH:C566010																		owl:Class
MONDO:0011097	biolink:NamedThing	Axenfeld-Rieger syndrome type 2	An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.	mondoexuq1wtf	Rieger syndrome, type 2|Rieger syndrome type 2|RIEG2|Axenfeld-Rieger syndrome, type 2											UMLS:C1832229|DOID:0110121|OMIM:601499|ICD10:Q13.8|MESH:C535680																		owl:Class
MONDO:0005475	biolink:NamedThing	migraine with aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.	mondoexuq1wtf	classic migraine											DOID:10024|ICD10:G43.1|HP:0002077|UMLS:C0154723|ICD9:346.0|NCIT:C117005|COHD:381549|ICD10:G43.109|SCTID:4473006|EFO:0005295|MESH:D020325|ICD9:346.00																		owl:Class
MONDO:0012072	biolink:NamedThing	familial partial lipodystrophy, Kobberling type	Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.	mondoexuq1wtf	FPLD1|lipodystrophy, familial partial, Kobberling type|familial partial lipodystrophy, Köbberling type|familial partial lipodystrophy type Köbberling|familial partial lipodystrophy type 1|lipodystrophy, familial partial, type 1											SCTID:725035001|Orphanet:79084|OMIM:608600|DOID:0070207|GARD:0012598|ICD10:E88.1																		owl:Class
MONDO:0020088	biolink:NamedThing	familial partial lipodystrophy	Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.	mondoexuq1wtf	FPLD|genetic partial lipodystrophy|lipodystrophy, familial partial|congenital partial lipodystrophy|Koberling-Dunnigan syndrome											MESH:D052496|SCTID:49292002|UMLS:C0271694|Orphanet:98306|NCIT:C84708|DOID:0050440|OMIMPS:151660|ICD10:E88.1|GARD:0011962																		owl:Class
MONDO:0011321	biolink:NamedThing	expansile bone lesions		mondoexuq1wtf	expansile bone lesions											UMLS:C1863880|OMIM:603439|MESH:C566375																		owl:Class
MONDO:0012923	biolink:NamedThing	congenital generalized lipodystrophy type 3	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.	mondoexuq1wtf	BSCL3|Berardinelli-Seip congenital lipodystrophy, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1|CAV1 congenital generalized lipodystrophy (disease)|lipodystrophy, congenital generalized, type 3|type 3 Berardinelli-Seip congenital lipodystrophy|lipodystrophy, Berardinelli-Seip congenital, type 3|CGL3|Berardinelli-Seip congenital lipodystrophy type 3											OMIM:612526|ICD10:E88.1|GARD:0013389|DOID:0111137|MESH:C567282|UMLS:C2675861														https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3				owl:Class
MONDO:0018883	biolink:NamedThing	Berardinelli-Seip congenital lipodystrophy	Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.	mondoexuq1wtf	Seip-Bernardinelli syndrome|Lawrence-Seip syndrome|congenital Generalized lipodystrophy|generalized congenital lipodystrophy|Brunzell syndrome|total lipodystrophy|lipoatrophic diabetes|GCL|Berardinelli lipodystrophy syndrome|BSCL|Beradinelli-Seip syndrome|Berardinelli Seip syndrome											SCTID:127012008|Orphanet:528|ICD9:250.80|NCIT:C84594|MedDRA:10024603|ICD10:E88.1																		owl:Class
MONDO:0009552	biolink:NamedThing	mal de Meleda	Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.	mondoexuq1wtf	keratosis palmoplantaris transgrediens of Siemens|keratosis palmoplantaris transgradiens of Siemens|transgrediens palmoplantar keratoderma of Siemens|mal de Meleda|MAL DE Meleda|Meleda disease|MDM											DOID:0060862|OMIM:248300|UMLS:C0025221|SCTID:239069005|ICD9:757.39|Orphanet:87503|GARD:0000092|ICD10:Q82.8																		owl:Class
MONDO:0020096	biolink:NamedThing	autosomal recessive isolated diffuse palmoplantar keratoderma	Autosomal recessive form of isolated diffuse palmoplantar keratoderma.	mondoexuq1wtf	isolated diffuse palmoplantar keratoderma, autosomal recessive|autosomal recessive isolated diffuse palmoplantar hyperkeratosis											UMLS:CN229269|Orphanet:98356|ICD10:Q82.8																		owl:Class
MONDO:0006213	biolink:NamedThing	floor of mouth mucoepidermoid carcinoma	A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.	mondoexuq1wtf	mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth											EFO:1000260|NCIT:C8178|UMLS:C0280310																		owl:Class
MONDO:0021343	biolink:NamedThing	carcinoma of floor of mouth	A carcinoma that involves the mouth floor.	mondoexuq1wtf	floor of mouth carcinoma|floor of the mouth carcinoma|carcinoma of mouth floor|mouth floor cancer|mouth floor carcinoma|carcinoma of the floor of the mouth											SCTID:449156009|NCIT:C9319																		owl:Class
MONDO:0040679	biolink:NamedThing	urothelial carcinoma	A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.	mondoexuq1wtf	transitional cell car. -uroth.|urothelial carcinoma|transitional cell carcinoma of the urothelial tract|transitional cell carcinoma of the urinary tract|Uroepithelial carcinoma											NCIT:C4030|EFO:0008528|UMLS:C2145472																		owl:Class
MONDO:0004127	biolink:NamedThing	lung occult adenocarcinoma	A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	mondoexuq1wtf	occult lung adenocarcinoma|occult adenocarcinoma of the lung|occult adenocarcinoma of lung											UMLS:C1335096|DOID:7168|NCIT:C6699																		owl:Class
MONDO:0010285	biolink:NamedThing	syndromic X-linked intellectual disability Abidi type	X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	mondoexuq1wtf	mental retardation, X-linked, syndromic, Abidi type|ABIDI X-linked intellectual disability syndrome|short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|ABIDI X-linked mental retardation syndrome|intellectual disability X-linked Abidi type|intellectual disability, X-linked syndromic, Abidi type|syndromic X-linked mental retardation Abidi type|mental retardation, X-linked syndromic, Abidi type|intellectual disability, X-linked, syndromic, Abidi type|X-linked intellectual disability, Abidi type|MRXSAB|syndromic X-linked intellectual disability Abidi type											MESH:C535556|ICD10:Q87.8|Orphanet:85273|UMLS:C1846056|OMIM:300262|GARD:0009157|DOID:0060818																		owl:Class
MONDO:0019878	biolink:NamedThing	3q26 microduplication syndrome	3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	mondoexuq1wtf	Cornelia de Lange-like syndrome|dup(3q) syndrome|trisomy 3q26|dup(3)(q26)											ICD10:Q92.3|Orphanet:96095|UMLS:CN206814																		owl:Class
MONDO:0003859	biolink:NamedThing	bilateral meningioma of optic nerve	Meningiomas that affects both optic nerves.	mondoexuq1wtf	bilateral optic nerve meningioma|bilateral meningioma of the optic nerve											NCIT:C5304|DOID:6335|UMLS:C1332551																		owl:Class
MONDO:0024648	biolink:NamedThing	optic tract meningioma	A meningioma that affects the visual pathway.	mondoexuq1wtf	visual pathway meningioma|meningioma of visual pathway|optic tract meningioma (disease)|meningioma (disease) of optic tract|meningioma of the visual pathway|meningioma of optic tract|meningioma of the optic tract|optic tract meningioma											NCIT:C5587|UMLS:C1336972																		owl:Class
MONDO:0000811	biolink:NamedThing	anomalous left coronary artery from the pulmonary artery	A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.	mondoexuq1wtf	White-Garland syndrome|ALCAPA|ALCAPA disorder|Bland-White-Garland syndrome|BWGS											UMLS:C1735886|DOID:0060562|MESH:D063748																		owl:Class
MONDO:0001389	biolink:NamedThing	congenital coronary artery anomaly		mondoexuq1wtf	coronary artery abnormality [ambiguous]|congenital anomaly of coronary artery|coronary artery anomaly, congenital|coronary artery anomaly|coronary artery abnormality											DOID:11843|COHD:321109|SCTID:28574005|ICD9:746.85																		owl:Class
MONDO:0000144	biolink:NamedThing	pregnancy loss, recurrent, susceptibility		mondoexuq1wtf						See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759.						DC:0000580																		owl:Class
MONDO:0008395	biolink:NamedThing	Ruvalcaba syndrome	Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.	mondoexuq1wtf	Ruvalcaba syndrome											OMIM:180870|MESH:C579395|UMLS:C0265248|SCTID:3073006|ICD10:Q87.8|Orphanet:3121|ICD9:759.89|GARD:0004748														https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome				owl:Class
MONDO:0021323	biolink:NamedThing	malignant neoplasm of chest wall	A cancer that involves the chest wall.	mondoexuq1wtf	malignant tumor of the chest wall|malignant chest wall tumor|malignant chest wall neoplasm|cancer of chest wall|malignant tumor of chest wall|malignant neoplasm of the chest wall|chest wall cancer|malignant neoplasm of chest wall											UMLS:C0346948|SCTID:712750007|NCIT:C4580																		owl:Class
MONDO:0017501	biolink:NamedThing	congenital absence of both lower leg and foot, bilateral		mondoexuq1wtf	tibiofibular terminal transverse meromelia, bilateral											ICD10:Q72.23|ICD10:Q72.2|Orphanet:295099																		owl:Class
MONDO:0017444	biolink:NamedThing	congenital absence of both lower leg and foot		mondoexuq1wtf	tibiofibular terminal transverse meromelia											SCTID:278532000|Orphanet:294981|ICD10:Q72.2																		owl:Class
MONDO:0010813	biolink:NamedThing	pancreatic beta cell agenesis with neonatal diabetes mellitus		mondoexuq1wtf	pancreatic beta cell agenesis with neonatal diabetes mellitus											Orphanet:28455|UMLS:C1838655|MESH:C538111|OMIM:600089																		owl:Class
MONDO:0010073	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, Kohn type	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	mondoexuq1wtf	Sedt with intellectual disability|spondyloepiphyseal dysplasia tarda with intellectual disability|Sedt with mental retardation|spondyloepiphyseal dysplasia tarda with mental retardation											Orphanet:163665|ICD10:Q77.7|MESH:C564796|OMIM:271620|SCTID:719202006|UMLS:C1849053																		owl:Class
MONDO:0017316	biolink:NamedThing	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).	mondoexuq1wtf	thong-Douglas-Ferrante syndrome|thong Douglas Ferrante syndrome|short stature deafness neutrophil dysfunction											ICD10:Q87.1|SCTID:716192009|Orphanet:2866|GARD:0004841																		owl:Class
MONDO:0019981	biolink:NamedThing	unilateral multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.	mondoexuq1wtf	unilateral MCDK|unilateral multicystic renal dysplasia											Orphanet:97363|ICD10:Q61.4																		owl:Class
MONDO:0017553	biolink:NamedThing	humero-ulnar synostosis, bilateral		mondoexuq1wtf	humero-ulnar fusion, bilateral											ICD10:Q74.0|Orphanet:295215																		owl:Class
MONDO:0020451	biolink:NamedThing	congenital stenosis of the inferior vena cava		mondoexuq1wtf	congenital stenosis of the IVC|congenital stenosis of the inferior caval vein											ICD9:747.49|Orphanet:99122|ICD10:Q26.0|SCTID:62335009																		owl:Class
MONDO:0019830	biolink:NamedThing	congenital anomaly of the inferior vena cava		mondoexuq1wtf	congenital anomaly of the IVC|congenital anomaly of the inferior caval vein											ICD9:747.49|ICD10:Q26.9|Orphanet:95499|SCTID:81577001																		owl:Class
MONDO:0006154	biolink:NamedThing	colon mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.	mondoexuq1wtf	colonic MALToma|MALToma of colon|MALT lymphoma of the colon|MALT lymphoma of colon|colon MALT lymphoma|colonic mucosa-associated lymphoid tissue lymphoma|colon MALToma|colonic MALT lymphoma|MALToma of the colon											NCIT:C5498|EFO:1000186|UMLS:C1333096																		owl:Class
MONDO:0002035	biolink:NamedThing	colon lymphoma	An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.	mondoexuq1wtf	colonic lymphoma|lymphoma of the colon|colon lymphoma|lymphoma of colon|primary colon lymphoma											ICD9:202.80|UMLS:C0519037|SCTID:133751000119102|DOID:1523|NCIT:C4793																		owl:Class
MONDO:0002966	biolink:NamedThing	splenic manifestation of prolymphocytic leukemia	A prolymphocytic leukemia that involves the spleen.	mondoexuq1wtf	spleen prolymphocytic leukemia|prolymphocytic leukemia of spleen|splenic manifestation of prolymphocytic leukemia											NCIT:C7297|UMLS:C1336066|DOID:4334																		owl:Class
MONDO:0010252	biolink:NamedThing	intellectual disability, X-linked, with panhypopituitarism		mondoexuq1wtf	mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with panhypopituitarism|intellectual disability, X-linked, with panhypopituitarism											OMIM:300123																		owl:Class
MONDO:0100195	biolink:NamedThing	X-linked intellectual disability with hypopituitarism	An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0010874	biolink:NamedThing	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency		mondoexuq1wtf	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency											OMIM:600351|UMLS:C1838238|MESH:C563949																		owl:Class
MONDO:0020582	biolink:NamedThing	benign uterine ligament neoplasm	A non-metastasizing neoplasm that arises from the uterine ligament.	mondoexuq1wtf	benign uterine ligament neoplasm											UMLS:C0865093|NCIT:C126493																		owl:Class
MONDO:0016024	biolink:NamedThing	shoulder and thorax deformity-congenital heart disease syndrome		mondoexuq1wtf												ICD10:Q87.8|Orphanet:1940																		owl:Class
MONDO:0015833	biolink:NamedThing	pseudounicornuate uterus	Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	mondoexuq1wtf	incomplete unilateral Müllerian aplasia|unicornuate uterus with rudimentary horn|incomplete unilateral Mullerian aplasia|incomplete unilateral aplasia of the Müllerian ducts|incomplete unilateral aplasia of the Mullerian ducts											Orphanet:180079|ICD10:Q51.4																		owl:Class
MONDO:0015831	biolink:NamedThing	unilateral aplasia of the mullerian ducts		mondoexuq1wtf	unilateral aplasia of the Müllerian ducts|unicornuate uterus											ICD10:Q51.4|Orphanet:180071																		owl:Class
MONDO:0013262	biolink:NamedThing	dilated cardiomyopathy 1S	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	mondoexuq1wtf	CMD1S|MYH7 familial isolated dilated cardiomyopathy|dilated cardiomyopathy-1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7|left ventricular noncompaction 5|cardiomyopathy, dilated, 1S|dilated cardiomyopathy type 1S|cardiomyopathy, dilated, type 1S											DOID:0110454|ICD10:I42.0|MESH:C563538|OMIM:613426|GARD:0012832														https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s				owl:Class
MONDO:0002885	biolink:NamedThing	erythrasma	A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.	mondoexuq1wtf	infection due to Corynebacterium minutissimum											EFO:1000696|ICD10:L08.1|ICD9:041.85|DOID:4131|SCTID:264207005|UMLS:C0014752|UMLS:C2364003|MESH:D004894																		owl:Class
MONDO:0002644	biolink:NamedThing	idiopathic granulomatous myositis		mondoexuq1wtf	granulomatous myositis|idiopathic granulomatous myositis											DOID:3428|UMLS:C1334150|NCIT:C27575|Orphanet:206979																		owl:Class
MONDO:0020445	biolink:NamedThing	agenesis of the superior vena cava	Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.	mondoexuq1wtf	absence of the superior vena cava|agenesis of the superior caval vein|agenesis of the SVC|absence of the SVC|absence of the superior caval vein											ICD10:Q26.8|SCTID:204464007|ICD9:747.49|Orphanet:99114																		owl:Class
MONDO:0018768	biolink:NamedThing	familial cold autoinflammatory syndrome	Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.	mondoexuq1wtf	familial cold urticaria|familial cold autoinflammatory syndrome|FCU|FCAS|familial polymorphous cold eruption											NCIT:C119053|UMLS:CN230757|OMIMPS:120100|Orphanet:47045|MedDRA:10064570|DOID:0090061|GARD:0009535|UMLS:C0343068|ICD10:L50.2|DC:0000146																		owl:Class
MONDO:0016168	biolink:NamedThing	cryopyrin-associated periodic syndrome	Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).	mondoexuq1wtf	caps|Cryopyrinopathy											ICD10:E85.0|MedDRA:10068850|NCIT:C84657|Orphanet:208650|GARD:0010927|UMLS:C2316212|SCTID:430079001|ICD9:759.89|MESH:D056587																		owl:Class
MONDO:0015627	biolink:NamedThing	multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	mondoexuq1wtf												Orphanet:166002|DOID:0070305|SCTID:766717008|ICD10:Q77.3																		owl:Class
MONDO:0020576	biolink:NamedThing	cutaneous vasculitis	Inflammation of the blood vessel wall characterized by palpable purpura.	mondoexuq1wtf	cutaneous vasculitis											NCIT:C112210|UMLS:C0262988																		owl:Class
MONDO:0009022	biolink:NamedThing	corpus callosum, agenesis of	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.	mondoexuq1wtf	ACC|agenesis of corpus callosum|corpus callosum agenesis|corpus callosum, agenesis of|agenesis of the corpus callosum|isolated corpus callosum agenesis											MESH:D061085|NCIT:C98905|GARD:0001535|SCTID:5102002|OMIM:217990																		owl:Class
MONDO:0012351	biolink:NamedThing	zygodactyly type 1		mondoexuq1wtf	SD1, Weidenreich type|Zygodactyly, Weidenreich type|Zd1|syndactyly type 1a|SD1a|syndactyly type 1, Weidenreich type|zygodactyly type 1|ZYGODACTYLY 1											OMIM:609815|UMLS:C1853294|Orphanet:295187|ICD10:Q70.3|MESH:C565223																		owl:Class
MONDO:0019934	biolink:NamedThing	polyploidy	The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.	mondoexuq1wtf												SCTID:72991005|Orphanet:96321|ICD10:Q92.7|MESH:D011123																		owl:Class
MONDO:0018095	biolink:NamedThing	Weaver-Williams syndrome	Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	mondoexuq1wtf												UMLS:CN204431|Orphanet:3448|ICD10:Q87.8																		owl:Class
MONDO:0100397	biolink:NamedThing	acute myeloid leukemia, t(9;22)(q34.1;q11.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)	mondoexuq1wtf	AML, t(9;22)(q34;q11.2)|AML, t(9;22)(q34.1;q11.2)|AML, t(9;22)(q34;q11)																													owl:Class
MONDO:0043544	biolink:NamedThing	nosocomial infection	An infection acquired in a hospital or other healthcare setting.	mondoexuq1wtf	infection, Cross|Healthcare-associated infection|nosocomial infectious disease|HAI|health care associated infection|infections, hospital|nosocomial infections|associated infections, Healthcare|nosocomial infection|associated infection, Healthcare|Healthcare associated infections|hospital-onset infection|Cross infections|health care associated infections|Healthcare associated infection|infections, Healthcare associated|infection, nosocomial|infection, hospital|hospital infection|hospital-acquired infection|infection, Healthcare associated|infections, nosocomial|hospital infections|infections, Cross											MESH:D003428|NCIT:C115164|UMLS:C0205721|SCTID:19168005|EFO:1001299																		owl:Class
MONDO:0009824	biolink:NamedThing	primary hyperoxaluria type 2	Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.	mondoexuq1wtf	HP2|GRHPR primary hyperoxaluria|hyperoxaluria, primary, type II|primary hyperoxaluria type II|primary hyperoxaluria caused by mutation in GRHPR|L-glyceric aciduria|glyceric aciduria|D-glycerate dehydrogenase deficiency|glyoxylate reductase/hydroxypyruvate reductase deficiency|hyperoxaluria, primary, type 2|Oxalosis 2											GARD:0002836|OMIM:260000|ICD9:271.8|ICD10:E74.8|MESH:C536415|UMLS:C0268165|DOID:0111671|SCTID:40951006|Orphanet:93599|NCIT:C123213														https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2				owl:Class
MONDO:0014450	biolink:NamedThing	breasts and/or nipples, aplasia or hypoplasia of, 2	Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.	mondoexuq1wtf	breasts and/or nipples, aplasia or hypoplasia of, type 2|breasts and/or nipples, aplasia or hypoplasia of, 2|BNAH2|PTPRF isolated congenital breast hypoplasia/aplasia|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF											OMIM:616001|UMLS:C4014918																		owl:Class
MONDO:0015855	biolink:NamedThing	isolated congenital breast hypoplasia/aplasia		mondoexuq1wtf	isolated congenital amastia|breasts and/or nipples, aplasia or hypoplasia of											ICD10:Q83.0|OMIMPS:113700|Orphanet:180188																		owl:Class
MONDO:0009031	biolink:NamedThing	craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.	mondoexuq1wtf	Lionitis|CDD|craniodiaphyseal dysplasia											OMIM:218300|NCIT:C131429|SCTID:205506004|DOID:0080032|ICD10:M85.2|MESH:C562940|ICD9:756.59|GARD:0001567|UMLS:C0410539|Orphanet:1513														https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia				owl:Class
MONDO:0015774	biolink:NamedThing	thoraco-abdominal enteric duplication	Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.	mondoexuq1wtf	thoraco abdominal enteric duplication											ICD10:Q43.4|SCTID:733628001|Orphanet:1759|GARD:0005181														https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication				owl:Class
MONDO:0008296	biolink:NamedThing	familial porphyria cutanea tarda	An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	porphyria cutanea tarda|PCT|porphyria, hepatoerythropoietic|porphyria cutanea tarda, type 2|PCT, type 2|PCT, 'familial' type|porphyria, Hepatocutaneous type|Urod deficiency|porphyria cutanea tarda type II|hereditary porphyria cutanea tarda|uroporphyrinogen decarboxylase deficiency					Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial						OMIM:176100|ICD10:E80.1|SCTID:59229005|UMLS:C0268323|Orphanet:443062																		owl:Class
MONDO:0033980	biolink:NamedThing	RELA fusion-positive ependymoma		mondoexuq1wtf												Orphanet:530792																		owl:Class
MONDO:0013009	biolink:NamedThing	Megarbane-Jalkh syndrome		mondoexuq1wtf	Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure|Megarbane Jalkh syndrome|developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure											UMLS:C2748555|OMIM:612785|MESH:C548071|GARD:0010689														https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome				owl:Class
MONDO:0001622	biolink:NamedThing	mechanical lagophthalmos		mondoexuq1wtf												ICD10:H02.22|SCTID:21783006|ICD9:374.22|UMLS:C0155198|DOID:13037|COHD:375268																		owl:Class
MONDO:0023227	biolink:NamedThing	gestational diabetes insipidus	A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.	mondoexuq1wtf	diabetes insipidus gestational|Gestagenic diabetes insipidus											MESH:C548014|UMLS:C2932666|GARD:0010702														https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus				owl:Class
MONDO:0000870	biolink:NamedThing	childhood acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.	mondoexuq1wtf	childhood acute lymphocytic leukemia|pediatric acute lymphocytic leukemia|pediatric acute lymphocytic leukemia (ALL)|childhood acute lymphogenous leukemia|pediatric ALL|pediatric acute lymphoid leukemia|pediatric acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|childhood acute lymphoblastic leukemia|pediatric acute lymphogenous leukemia|childhood precursor lymphoblastic leukemia|childhood acute lymphoid leukemia|childhood ALL											NCIT:C3168|GARD:0009240|DOID:0080144														https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia				owl:Class
MONDO:0030033	biolink:NamedThing	seizures, early-onset, with neurodegeneration and brain calcifications		mondoexuq1wtf	seizures, early-onset, with neurodegeneration and brain calcifications|SENEBAC|SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS											OMIM:618875																		owl:Class
MONDO:0019429	biolink:NamedThing	X-linked neurodegenerative syndrome, Hamel type	X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.	mondoexuq1wtf												SCTID:718847005|Orphanet:85336|ICD10:G31.8|UMLS:CN206187																		owl:Class
MONDO:0037252	biolink:NamedThing	thecoma	An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.	mondoexuq1wtf	thecoma											ICDO:8600/0|NCIT:C3405|MESH:D013798																		owl:Class
MONDO:0005765	biolink:NamedThing	foot and mouth disease	A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.	mondoexuq1wtf												EFO:0007277|UMLS:C0016514|MESH:D005536																		owl:Class
MONDO:0007102	biolink:NamedThing	amyotrophic dystonic paraplegia		mondoexuq1wtf	amyotrophic dystonic paraplegia											UMLS:C1862956|MESH:C566292|OMIM:105300																		owl:Class
MONDO:0005149	biolink:NamedThing	pulmonary hypertension	Increased pressure within the pulmonary circulation due to lung or heart disorder.	mondoexuq1wtf												SCTID:70995007|ICD10:I27.2|EFO:0001361|DOID:6432|MESH:D006976																		owl:Class
MONDO:0018853	biolink:NamedThing	transgrediens et progrediens palmoplantar keratoderma		mondoexuq1wtf	Greither disease|keratosis extremitatum hereditaria progrediens|transgrediens et progrediens PPK|keratosis palmoplantaris transgrediens et progrediens|progressive diffuse PPK|progressive diffuse palmoplantar keratoderma											UMLS:CN205162|ICD10:Q82.8|Orphanet:495																		owl:Class
MONDO:0020093	biolink:NamedThing	autosomal dominant isolated diffuse palmoplantar keratoderma	Autosomal dominant form of isolated diffuse palmoplantar keratoderma.	mondoexuq1wtf	autosomal dominant isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal dominant											Orphanet:98349|ICD10:Q82.8|UMLS:CN229268																		owl:Class
MONDO:0014212	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.	mondoexuq1wtf	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|MOCOD type C|molybdenum cofactor deficiency, complementation group type C|molybdenum cofactor deficiency complementation group C|molybdenum cofactor deficiency type C|molybdenum cofactor deficiency, complementation group C|MOCODC											DOID:0111166|PMID:11095995|OMIM:615501|Orphanet:308400|ICD10:E72.1|UMLS:C1854990|MESH:C565374																		owl:Class
MONDO:0013028	biolink:NamedThing	adenosine monophosphate deaminase deficiency	Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.	mondoexuq1wtf	myoadenylate deaminase deficiency|AMP deaminase deficiency											ICD10:G71.3|SCTID:9105005|MESH:C538234|ICD9:277.2|Orphanet:45																		owl:Class
MONDO:0020323	biolink:NamedThing	primary mediastinal large B-cell lymphoma	A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)	mondoexuq1wtf	Med-DLBCL|mediastinal diffuse large cell lymphoma with sclerosis|primary mediastinal clear cell lymphoma of B-cell type|mediastinal diffuse large-cell lymphoma with sclerosis|PMBL|mediastinal (thymic) large B-cell lymphoma|mediastinal large B-cell lymphoma|primary mediastinal large B-cell lymphoma|mediastinal B-cell diffuse large cell lymphoma|B-cell diffuse large cell lymphoma of the mediastinum|PMLCL|primary mediastinal B-cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma|large cell lymphoma of the mediastinum|B-cell diffuse large cell lymphoma of mediastinum											UMLS:C1292754|Orphanet:98838|SCTID:444910004|ICD10:C85.2|ONCOTREE:PMBL|DOID:0080210|MedDRA:10036710|ICDO:9679/3|NCIT:C9280|ICD10:C83.3																		owl:Class
MONDO:0004451	biolink:NamedThing	sarcomatous intrahepatic cholangiocarcinoma	A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.	mondoexuq1wtf	intrahepatic cholangiocarcinoma with extensive sarcomatous changes|sarcomatoid intrahepatic cholangiocarcinoma											DOID:8072|UMLS:C1519184|NCIT:C41620																		owl:Class
MONDO:0012270	biolink:NamedThing	Tukel syndrome		mondoexuq1wtf	Tukel syndrome|Cfeom-U|congenital extraocular muscle fibrosis with ulnar hand anomalies|fibrosis of extraocular muscles, congenital, 4|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies											GARD:0009814|UMLS:C1836217|OMIM:609428																		owl:Class
MONDO:0016615	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies		mondoexuq1wtf	pauciarticular chronic arthritis with anti-nuclear antibodies|oligoarticular JIA with anti-nuclear antibodies											UMLS:CN201823|Orphanet:247839|ICD10:M08.4																		owl:Class
MONDO:0021453	biolink:NamedThing	benign neoplasm of retina	A benign neoplasm that involves the retina.	mondoexuq1wtf	retina benign neoplasm|benign neoplasm of the retina|benign retinal neoplasm|benign retinal tumor|benign retina tumor|benign retina neoplasm|benign tumor of retina|benign tumor of the retina											ICD9:224.5|SCTID:92321003|NCIT:C3624|UMLS:C0154027																		owl:Class
MONDO:0018320	biolink:NamedThing	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		mondoexuq1wtf												ICD10:Q87.8|Orphanet:391408|UMLS:CN204971																		owl:Class
MONDO:0010390	biolink:NamedThing	ocular albinism with late-onset sensorineural deafness	Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	mondoexuq1wtf	OASD|ocular albinism with sensorineural deafness|albinism ocular late onset sensorineural deafness|albinism, ocular, with late-onset sensorineural deafness|deafness and ocular albinism											SCTID:722054007|Orphanet:1000|ICD10:E70.3|UMLS:C1845069|OMIM:300650|GARD:0000592																		owl:Class
MONDO:0014735	biolink:NamedThing	Charcot-Marie-Tooth disease type 2Y	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, type 2y|Charcot-Marie-Tooth neuropathy, type 2Y|VCP Charcot-Marie-Tooth disease type 2|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|CMT2Y|Charcot-Marie-Tooth neuropathy type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, type 2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP											Orphanet:435387|UMLS:C4225244|OMIM:616687|ICD10:G60.0|DOID:0110168																		owl:Class
MONDO:0004555	biolink:NamedThing	kidney angiomyolipoma	An angiomyolipoma arising from the kidney.	mondoexuq1wtf	angiomyolipoma of the kidney|kidney angiomyolipoma|angiomyolipoma of kidney|RAML|renal angiomyolipoma											SCTID:254921004|DOID:8411|EFO:1000312|UMLS:C0241961|ONCOTREE:RAML|NCIT:C3888																		owl:Class
MONDO:0019584	biolink:NamedThing	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.	mondoexuq1wtf												Orphanet:90399|ICD10:L98.5																		owl:Class
MONDO:0019447	biolink:NamedThing	atypical lichen myxedematosus	Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.	mondoexuq1wtf	Intermediate lichen myxedematosus											Orphanet:86797|SCTID:725148000|UMLS:C4510874|ICD10:L98.5																		owl:Class
MONDO:0003111	biolink:NamedThing	gastric neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	neuroendocrine tumor of the stomach|stomach neuroendocrine neoplasm|stomach NET|stomach neuroendocrine tumor|neuroendocrine tumor of stomach|gastric neuroendocrine neoplasm|neuroendocrine neoplasm of stomach|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|NET of stomach|neuroendocrine neoplasm of the stomach											Orphanet:100075|NCIT:C5696|DOID:4715|UMLS:C1333783|SCTID:721194008																		owl:Class
MONDO:0024685	biolink:NamedThing	Philadelphia-positive myelogenous leukemia		mondoexuq1wtf	Ph1-positive myelocytic leukemia|Philadelphia-positive myeloid leukemia|Ph1-positive granulocytic leukemia|Ph1-positive myeloid leukemia|Philadelphia-positive granulocytic leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive myelogenous leukemia											UMLS:C0023476|NCIT:C3177																		owl:Class
MONDO:0004643	biolink:NamedThing	myeloid leukemia	A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.	mondoexuq1wtf	non-lymphocytic leukemia|leukemia myeloid|myelocytic leukemia|myeloid leukemia|myeloid granulocytic leukemia|non-lymphoblastic leukemia|leukemia granulocytic|myelogenous leukemia|leukemia myelogenous|leukemia, granulocytic, malignant											DOID:8692|ICD9:205|NCIT:C3172|ICD9:205.80|ICD10:C92|UMLS:C0023470|SCTID:188732008|ICDO:9860/3|ICD9:205.90|ICD10:C92.9|ICD10:C92.90|ICD9:205.9|COHD:140666|MESH:D007951|GARD:0008226														https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia				owl:Class
MONDO:0020040	biolink:NamedThing	46,XY disorder of sex development	Differences of sex development in individuals with 46,XY karyotype.	mondoexuq1wtf	46, XY disorders of sexual development|XY female|46,XY disorders of Sex development|46,XY DSD|46, XY DSD|46,XY differences of Sex development|46, XY female											SCTID:8234004|GARD:0008538|MESH:D058490|UMLS:C2751824|Orphanet:98085|NCIT:C127171																		owl:Class
MONDO:0004591	biolink:NamedThing	impetigo herpetiformis	An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.	mondoexuq1wtf												SCTID:65539006|EFO:1000715|DOID:8503|ICD10:L40.1|ICD9:694.3|UMLS:C1314968																		owl:Class
MONDO:0004758	biolink:NamedThing	scotoma	A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.	mondoexuq1wtf	scotoma of blind spot area|enlarged paracaecal scotoma|scotoma|scotoma (disease)|enlarged angioscotoma|sector or arcuate visual field defects|generalized visual field contraction or constriction|enlarged blind spot|blind spot area scotoma		scotoma (disease)									ICD9:368.42|ICD10:H53.43|DOID:9335|ICD9:368.45|HP:0000575|ICD10:H53.45|ICD9:368.43|ICD10:H53.42|ICD9:368.44|MESH:D012607																		owl:Class
MONDO:0006046	biolink:NamedThing	ovarian serous cystadenocarcinoma	A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.	mondoexuq1wtf	ovarian serous cystadenocarcinoma											EFO:1000043|NCIT:C7978|DOID:5746|UMLS:C0279663																		owl:Class
MONDO:0012998	biolink:NamedThing	faciocardiomelic syndrome		mondoexuq1wtf	faciocardiomelic syndrome											UMLS:C2674798|OMIM:612731|MESH:C567176																		owl:Class
MONDO:0008928	biolink:NamedThing	cataract-ataxia-deafness syndrome	Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.	mondoexuq1wtf	cataract-ataxia-deafness-retardation syndrome|cataract ataxia deafness syndrome|polyneuropathy, cataract, deafness syndrome|cataract ataxia deafness|polyneuropathy-cataract-deafness syndrome|Begeer syndrome											Orphanet:1368|GARD:0001141|ICD10:G11.2|MESH:C538283|UMLS:C0796123|OMIM:212710																		owl:Class
MONDO:0011421	biolink:NamedThing	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.	mondoexuq1wtf	Complex 5 mitochondrial respiratory chain deficiency|MC5DN1|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|mitochondrial complex V deficiency											ICD10:E88.8|UMLS:C3276276|DOID:0050768|OMIM:604273|GARD:0001459														https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency				owl:Class
MONDO:0013308	biolink:NamedThing	CBL-related disorder	CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.	mondoexuq1wtf	Cbl mutation-associated syndrome|Noonan-like syndrome|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|NSLL|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|Cbl syndrome|Noonan syndrome-like disorder with JMML											ICD10:Q87.1|UMLS:C4016301|OMIM:613563|Orphanet:363972|UMLS:C3150803																		owl:Class
MONDO:0013277	biolink:NamedThing	developmental and epileptic encephalopathy, 5	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.	mondoexuq1wtf	SPTAN1 early infantile epileptic encephalopathy|DEE5|early infantile epileptic encephalopathy caused by mutation in SPTAN1|EIEE5|epileptic encephalopathy, early infantile, 5|epileptic encephalopathy, early infantile, type 5											OMIM:613477|UMLS:C3150731|DOID:0080438																		owl:Class
MONDO:0017328	biolink:NamedThing	non-central nervous system-localized embryonal carcinoma		mondoexuq1wtf	non-CNS-localized embryonal carcinoma											Orphanet:289362|UMLS:CN202968|ICD10:C22.7																		owl:Class
MONDO:0013746	biolink:NamedThing	ventricular septal defect 1	Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	mondoexuq1wtf	ventricular septal defect type 1|GATA4 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in GATA4|VSD1|ventricular septal defect 1											UMLS:C3280777|OMIM:614429																		owl:Class
MONDO:0010851	biolink:NamedThing	Lowry-MacLean syndrome	Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	mondoexuq1wtf	Lowry-MacLean syndrome|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry MacLean syndrome											MESH:C537037|OMIM:600252|Orphanet:2409|UMLS:C0796020|ICD10:Q87.8|GARD:0003300|SCTID:721974000																		owl:Class
MONDO:0018476	biolink:NamedThing	dystonia-aphonia syndrome		mondoexuq1wtf												Orphanet:412217|ICD10:G24.8|UMLS:CN237465																		owl:Class
MONDO:0013560	biolink:NamedThing	Hermansky-Pudlak syndrome 8	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.	mondoexuq1wtf	HPS8|Hermansky-Pudlak syndrome 8|Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|BLOC1S3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 8											OMIM:614077|ICD10:E70.3|Orphanet:231537|DOID:0060546|UMLS:C3888026|UMLS:CN201510																		owl:Class
MONDO:0060663	biolink:NamedThing	congenital heart defects, multiple types, 5		mondoexuq1wtf	CHTD5|CONGENITAL heart defects, multiple types, 5											UMLS:CN873437|OMIM:617912																		owl:Class
MONDO:0018535	biolink:NamedThing	biliary cystadenocarcinoma	A cystadenocarcinoma that involves the biliary tree.	mondoexuq1wtf	intrahepatic bile duct cystadenocarcinoma											Orphanet:424982|ICD10:C22.1|UMLS:C2064409																		owl:Class
MONDO:0003060	biolink:NamedThing	biliary tract cancer	A malignant neoplasm involving the biliary tree	mondoexuq1wtf	malignant tumour of biliary tract|malignant neoplasm of biliary tree|biliary tree cancer|cancer of biliary tree|malignant biliary tree neoplasm											GARD:0005924|ICD9:156.9|ICD10:C24.9|DOID:4607														https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer				owl:Class
MONDO:0032941	biolink:NamedThing	myopia 27		mondoexuq1wtf	MYOPIA 27|MYP27											OMIM:618827																		owl:Class
MONDO:0020407	biolink:NamedThing	complete atrioventricular canal-ventricle hypoplasia syndrome		mondoexuq1wtf	complete atrioventricular canal type B|CAVC-ventricle hypoplasia syndrome|CAVC type B											Orphanet:99067|UMLS:CN207279|ICD10:Q21.2																		owl:Class
MONDO:0024303	biolink:NamedThing	external hirudiniasis	The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.	mondoexuq1wtf												UMLS:C0392037|ICD10:B88.3|SCTID:1086871000119109																		owl:Class
MONDO:0004410	biolink:NamedThing	sarcomatoid penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.	mondoexuq1wtf	squamous cell carcinoma of the penis, sarcomatoid type|squamous cell carcinoma of penis, sarcomatoid type|sarcomatoid penile carcinoma|sarcomatous carcinoma of the penis|spindle cell carcinoma of the penis|sarcomatoid penile squamous cell carcinoma|sarcomatoid carcinoma of the penis											DOID:7958|NCIT:C6984|UMLS:C1335923																		owl:Class
MONDO:0018352	biolink:NamedThing	squamous cell carcinoma of penis	A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)	mondoexuq1wtf	penile squamous cell cancer|squamous cell carcinoma of penis|penile epidermoid cell carcinoma|squamous cell carcinoma of the penis|penile squamous cell carcinoma|epidermoid carcinoma of penis|epidermoid cell carcinoma of the penis|penile squamous car.(epidermoid)|penis squamous cell carcinoma|penile squamous carcinoma (epidermoid)|epidermoid carcinoma of the penis|PSCC|penile epidermoid carcinoma|epidermoid cell carcinoma of penis											ICD10:C60.8|UMLS:C0238348|ICD10:C60.2|ICD10:C60.9|Orphanet:398058|ICD10:C60.1|ONCOTREE:PSCC|DOID:5518|ICD10:C60.0|SCTID:403468003|NCIT:C7729																		owl:Class
MONDO:0007442	biolink:NamedThing	dentinogenesis imperfecta type 3	Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).	mondoexuq1wtf	DGI-III|brandywine type dentinogenesis imperfecta|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta type III|dentinogenesis imperfecta, Shields type 3|dentinogenesis imperfecta, Shields type III											ICD10:K00.5|OMIM:125500|MESH:C538216|GARD:0010144|ICD9:520.5|SCTID:234970006|Orphanet:166265														https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3				owl:Class
MONDO:0018849	biolink:NamedThing	dentinogenesis imperfecta	Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.	mondoexuq1wtf	non-syndromic dentinogenesis imperfecta|DGI without OI|opalescent teeth without OI|DI|non-syndromic DGI|dentinogenesis imperfecta|dentinogenesis imperfecta (disease)|opalescent teeth without osteogenesis imperfecta|dentinogenesis imperfecta without osteogenesis imperfecta|DGI		dentinogenesis imperfecta (disease)									MESH:D003811|SCTID:196286005|UMLS:C0011436|GARD:0006258|MedDRA:10054013|Orphanet:49042|DOID:4154|ICD9:520.5|NCIT:C84667|HP:0000703|ICD10:K00.5																		owl:Class
MONDO:0013118	biolink:NamedThing	Nijmegen breakage syndrome-like disorder	Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	mondoexuq1wtf	Rad50 deficiency|microcephaly and spontaneous chromosome instability without immunodeficiency|NBSLD|Nijmegen breakage syndrome-like disorder|RAD50 deficiency|NBs-like disorder|microcephaly and chromosomal instability without immunodeficiency											NCIT:C153178|MESH:C567767|UMLS:C2751318|Orphanet:240760|SCTID:766753005|OMIM:613078																		owl:Class
MONDO:0016750	biolink:NamedThing	microcephaly-cleft palate syndrome	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	Halal syndrome|microcephaly cleft palate autosomal dominant|microcephaly-cleft palate-abnormal retinal pigmentation syndrome											UMLS:C2930954|GARD:0008623|SCTID:719394002|MESH:C535622|ICD10:Q87.8|Orphanet:2521																		owl:Class
MONDO:0006354	biolink:NamedThing	parathyroid hyperplasia	A hyperplasia that involves the parathyroid gland.	mondoexuq1wtf	parathyroid hyperplasia (disease)|parathyroid hyperplasia|hyperplasia of parathyroid|parathyroid gland hyperplasia|hyperplasia of the parathyroid		parathyroid hyperplasia (disease)									UMLS:C0271844|EFO:1000457|NCIT:C3989|HP:0008208|SCTID:9092004																		owl:Class
MONDO:0016971	biolink:NamedThing	limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.	mondoexuq1wtf	Leyden-Mobius muscular dystrophy|limb girdle muscular dystrophy|erb's muscular dystrophy|LGMD|Leyden-Mbius muscular dystrophy											UMLS:C0686353|MESH:D049288|UMLS:C0270950|Orphanet:263|ICD10:G71.0|SCTID:78468005|DOID:11724|NCIT:C84828|GARD:0006907														https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy				owl:Class
MONDO:0022895	biolink:NamedThing	craniosynostosis cleft lip palate arthrogryposis		mondoexuq1wtf												GARD:0001590														https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis				owl:Class
MONDO:0014035	biolink:NamedThing	severe intellectual disability-progressive spastic diplegia syndrome	Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	autosomal dominant intellectual disability 19|CTNNB1-related intellectual disability|mental retardation, autosomal dominant type 19|intellectual disability, autosomal dominant 19|autosomal dominant mental retardation 19|mental retardation, autosomal dominant 19|autosomal dominant non-syndromic intellectual disability 19|intellectual disability, autosomal dominant type 19|MRD19											OMIM:615075|UMLS:C3554449|Orphanet:404473|DOID:0070049|ICD10:G11.4|GARD:0003505														https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome				owl:Class
MONDO:0001135	biolink:NamedThing	voyeurism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.	mondoexuq1wtf												DOID:10834|SCTID:63835008|ICD10:F65.3|MESH:D014843|ICD9:302.82|NCIT:C94360																		owl:Class
MONDO:0010454	biolink:NamedThing	intellectual disability, XMEN-linked 88		mondoexuq1wtf	mental retardation, X-linked 88|MRX88|intellectual disability, X-linked 88											UMLS:C3275444|OMIM:300852																		owl:Class
MONDO:0015094	biolink:NamedThing	subependymal nodular heterotopia		mondoexuq1wtf												ICD10:Q04.8|Orphanet:101030|MedDRA:10071150|GARD:0005050|ICD9:742.4|UMLS:C3160906|SCTID:699812002														https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia				owl:Class
MONDO:0016292	biolink:NamedThing	nodular neuronal heterotopia		mondoexuq1wtf	hereditary nodular heterotopia|genetic nodular heterotopia|nodular heterotopia											SCTID:253151003|Orphanet:2149|ICD10:Q04.8|GARD:0002661														https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia				owl:Class
MONDO:0022977	biolink:NamedThing	diaphragmatic hernia exomphalos corpus callosum agenesis		mondoexuq1wtf												GARD:0001846														https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis				owl:Class
MONDO:0005156	biolink:NamedThing	encephalomyelitis	Inflammation of the brain and the spinal cord.	mondoexuq1wtf	encephalitis &/or myelitis|inflammation of central nervous system|central nervous system inflammation|encephalitis and/or myelitis											SCTID:62950007|NCIT:C34580|DOID:640|EFO:0001423|MESH:D004679|UMLS:C0014070|ICD9:323.9																		owl:Class
MONDO:0004483	biolink:NamedThing	thyroid gland oncocytic adenoma	A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.	mondoexuq1wtf	Hurthle cell adenoma of thyroid|OAT|oncocytic adenoma of thyroid gland|oncocytic adenoma of the thyroid|thyroid gland follicular adenoma of oxyphilic cell type|thyroid follicular adenoma of oxyphilic cell type|follicular adenoma of the thyroid of the oxyphilic cell type|benign oncocytoma of the thyroid|Hurthle cell adenoma|benign thyroid gland oncocytoma|Hurthle cell adenoma of the thyroid gland|benign oncocytoma of thyroid|Hurthle cell adenoma of thyroid gland|oncocytic adenoma of the thyroid gland|thyroid gland oncocytic adenoma|thyroid oncocytic adenoma|thyroid follicular adenoma of the oxyphilic cell type|benign thyroid oncocytoma|thyroid gland follicular adenoma of the oxyphilic cell type|Hurthle cell adenoma of the thyroid|oncocytic adenoma of thyroid|follicular adenoma of the thyroid gland of the oxyphilic cell type|thyroid gland Hurthle cell adenoma|follicular adenoma of thyroid of oxyphilic cell type|thyroid Hurthle cell adenoma|follicular adenoma of thyroid gland of oxyphilic cell type|benign oncocytoma of thyroid gland|benign oncocytoma of the thyroid gland											DOID:8162|ONCOTREE:OAT|NCIT:C6042|UMLS:C1336750																		owl:Class
MONDO:0006225	biolink:NamedThing	gastric mantle cell lymphoma	A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.	mondoexuq1wtf	mantle cell lymphoma of the stomach|gastric mantle cell lymphoma|mantle cell lymphoma of stomach|stomach mantle cell lymphoma											EFO:1000272|UMLS:C1333780|NCIT:C27440																		owl:Class
MONDO:0013397	biolink:NamedThing	acne inversa, familial, 2	Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.	mondoexuq1wtf	familial acne inversa caused by mutation in PSENEN|ACNINV2|acne inversa, familial, 2, with or without Dowling-Degos disease|PSENEN familial acne inversa|acne inversa, familial, 2|acne inversa, familial, type 2											OMIM:613736|UMLS:C3151037																		owl:Class
MONDO:0024516	biolink:NamedThing	familial acne inversa	An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary hidradenitis suppurativa|familial hidradenitis suppurativa|ACNINV											OMIMPS:142690																		owl:Class
MONDO:0016540	biolink:NamedThing	congenital secondary polycythemia		mondoexuq1wtf	congenital secondary erythrocytosis											ICD10:D75.1|Orphanet:238536																		owl:Class
MONDO:0011773	biolink:NamedThing	anauxetic dysplasia	A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.	mondoexuq1wtf	spondylometaepiphyseal dysplasia Menger type|spondylometaepiphyseal dysplasia, anauxetic type|ANXD1|spondylometaepiphyseal dysplasia, Menger type|spondyloepimetaphyseal dysplasia, anauxetic type|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia|anauxetic dysplasia 1|spondylometaepiphyseal dysplasia anauxetic type|anauxetic dysplasia type 1					Editor note: consider distinct subclass for type 1						OMIMPS:607095|UMLS:C1846796|Orphanet:93347|GARD:0009657|MESH:C538256|DOID:0050640|UMLS:CN029084|ICD10:Q77.7																		owl:Class
MONDO:0013691	biolink:NamedThing	Feingold syndrome type 2	Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.	mondoexuq1wtf	microcephaly-digital anomalies-normal intelligence syndrome type 2|MMT type 2|Feingold syndrome type 2|Brunner-Winter syndrome type 2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2|FGLDS2|brachydactyly with short stature and microcephaly|FS2|brachydactyly-short stature-microcephaly syndrome|Feingold syndrome 2											OMIM:614326|ICD10:Q87.8|Orphanet:391646|UMLS:C3280489																		owl:Class
MONDO:0015267	biolink:NamedThing	Feingold syndrome	Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.	mondoexuq1wtf	FGLDS|Brunner-Winter syndrome|microcephaly-digital anomalies-normal intelligence syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|MODED syndrome|FS|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|ODED syndrome|oculo-digito-esophageal-duodenal syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|MMT											NCIT:C74987|Orphanet:1305|GARD:0008407|ICD10:Q87.8|DOID:0060464|OMIMPS:164280																		owl:Class
MONDO:0024953	biolink:NamedThing	lameness, non-human animal	A departure from the normal gait in animals.	mondoexuq1wtf	disorder, animal Gait|disorders, animal Gait|animal lameness|Lamenesses, animal|animal Gait disorder|Gait disorder, animal|animal Lamenesses|Gait disorders, animal|animal Gait disorders											MESH:D007794																		owl:Class
MONDO:0032681	biolink:NamedThing	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis		mondoexuq1wtf	PEERB|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS											OMIM:618331																		owl:Class
MONDO:0010656	biolink:NamedThing	intellectual disability, X-linked 1	An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.	mondoexuq1wtf	IQSEC2-related intellectual disability|MRX1|mental retardation, X-linked 18|IQSEC2-related epilepsy|X-linked intellectual disability 78|mental retardation, X-linked 1|IQSEC2|mental retardation, X-linked 78|MRX78|X-linked intellectual disability 1/78|X-linked intellectual disability 1|mental retardation, X-linked type 1|MRX											MESH:C567906|MESH:C564489|NCIT:C133729|OMIM:300551|GARD:0013221|OMIM:309530																		owl:Class
MONDO:0016439	biolink:NamedThing	elastoderma	Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.	mondoexuq1wtf												UMLS:C0406555|Orphanet:228240|ICD9:701.8|SCTID:238832003|GARD:0012716														https://rarediseases.info.nih.gov/diseases/12716/elastoderma				owl:Class
MONDO:0016436	biolink:NamedThing	acquired dermis elastic tissue disorder with increased elastic tissue		mondoexuq1wtf												Orphanet:228224|UMLS:CN226929																		owl:Class
MONDO:0015717	biolink:NamedThing	mild hemophilia B	Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	mild factor IX deficiency|mild hemophilia type B											UMLS:CN200229|ICD10:D67|Orphanet:169799																		owl:Class
MONDO:0002355	biolink:NamedThing	glottis carcinoma	A carcinoma that arises from epithelial cells of the glottis.	mondoexuq1wtf	glottis cancer|glottic throat cancer|carcinoma of the glottis|cancer of the glottis|carcinoma of glottis|glottis carcinoma|glottic carcinoma|cancer of glottis											SCTID:372103002|UMLS:C0740083|DOID:2599|NCIT:C4923																		owl:Class
MONDO:0007531	biolink:NamedThing	electroencephalographic peculiarity: fronto-precentral beta wave groups		mondoexuq1wtf	electroencephalographic peculiarity: fronto-precentral beta wave groups											OMIM:130300																		owl:Class
MONDO:0020808	biolink:NamedThing	testicular sertoli cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.	mondoexuq1wtf	Sertoli Cell Neoplasm of Testis|Sertoli Cell Tumor of Testis|Testicular Sertoli Cell Neoplasm|Sertoli Cell Neoplasm of the Testis|Testicular Sertoli Cell Tumor|Sertoli Cell Tumor of the Testis|Testicular Sertoli Cell Tumor, NOS|Testicular Sertoli Cell Tumor, Not Otherwise Specified											NCIT:C4672																		owl:Class
MONDO:0008584	biolink:NamedThing	torus palatinus and torus mandibularis		mondoexuq1wtf	torus palatinus and torus mandibularis											OMIM:189700|UMLS:C1861044|MESH:C566043																		owl:Class
MONDO:0020436	biolink:NamedThing	atrial septal defect, sinus venosus type		mondoexuq1wtf	sinus venosus ASD|ASD, sinus venosus type|sinus venosus atrial septal defects|atrial septal defect sinus venosus											ICD10:Q21.1|SCTID:95268002|GARD:0010696|MESH:C548009|Orphanet:99105																		owl:Class
MONDO:0017731	biolink:NamedThing	glycoproteinosis		mondoexuq1wtf						See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227						Orphanet:309279|ICD10:E77.8|GARD:0010670|ICD10:E77.9|ICD10:E77.0|ICD10:E77.1														https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis				owl:Class
MONDO:0033005	biolink:NamedThing	Galloway-Mowat syndrome 1		mondoexuq1wtf	microcephaly, hiatal hernia, and nephrotic syndrome|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|GAMOS1|Galloway-Mowat syndrome 1|nephrosis-microcephaly syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly											UMLS:CN031715|OMIM:251300|DOID:0060364																		owl:Class
MONDO:0010130	biolink:NamedThing	dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.	mondoexuq1wtf	dihydropyrimidine dehydrogenase deficiency|5-fluorouracil toxicity|familial pyrimidinaemia|DPD deficiency|DYPD deficiency|Dpyd deficiency|thymine-Uraciluria, hereditary|dihydrouracil dehydrogenase deficiency|thymine-uracilurea|pyrimidinemia, familial|hereditary thymine-uraciluria|familial pyrimidinemia											Orphanet:1675|NCIT:C84672|MESH:D054067|ICD10:E79.8|OMIM:274270|GARD:0000019|MedDRA:10052622|DOID:14218|SCTID:77365006|ICD9:277.2|UMLS:C1959620														https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency				owl:Class
MONDO:0002173	biolink:NamedThing	neuroma	A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.	mondoexuq1wtf						Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split						MESH:D009463|UMLS:C0027858|NCIT:C3275|SCTID:443892003|ICDO:9570/0|ICD9:215.9|DOID:2001																		owl:Class
MONDO:0001752	biolink:NamedThing	alveolar periostitis	A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)	mondoexuq1wtf	alveolitis of jaw|dry tooth socket|jaw skeleton extrinsic allergic alveolitis|extrinsic allergic alveolitis of jaw skeleton|dry socket											SCTID:61804006|UMLS:C0013240|ICD9:526.5|MESH:D004368|DOID:13585|ICD10:M27.3|COHD:201332																		owl:Class
MONDO:0000777	biolink:NamedThing	gastrointestinal allergy	A allergic disease that involves the digestive tract.	mondoexuq1wtf	allergic disease of digestive tract|digestive tract allergic disease											DOID:0060502																		owl:Class
MONDO:0003553	biolink:NamedThing	ampulla of vater adenosquamous carcinoma	A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	mondoexuq1wtf	ampulla of Vater adenosquamous carcinoma|hepatopancreatic ampulla adenosquamous carcinoma											UMLS:C1332245|DOID:5628|NCIT:C27418																		owl:Class
MONDO:0002853	biolink:NamedThing	rectum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.	mondoexuq1wtf	rhabdomyosarcoma of the rectum|rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of rectum|rectal rhabdomyosarcoma|rhabdomyosarcoma of rectum											DOID:4053|UMLS:C1335687|NCIT:C5627																		owl:Class
MONDO:0019452	biolink:NamedThing	myeloproliferative neoplasm, unclassifiable	This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.	mondoexuq1wtf	MPN, U|MPN-U|undifferentiated myeloproliferative disease|unclassifiable chronic myeloproliferative disorder|CMPD, U|chronic myeloproliferative disease, unclassifiable|unclassifiable chronic myeloproliferative disease|CMPD-U|chronic myeloproliferative disorder, unclassifiable|myeloproliferative neoplasm, unclassifiable											Orphanet:86830|ICDO:9975/3|NCIT:C27350|UMLS:C1333046|ICD10:D47.1																		owl:Class
MONDO:0004931	biolink:NamedThing	residual stage corticosteroid-induced glaucoma		mondoexuq1wtf												ICD9:365.32|UMLS:C0339580|SCTID:193549003|DOID:9948																		owl:Class
MONDO:0014951	biolink:NamedThing	Sotos syndrome 3	Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene.	mondoexuq1wtf	Sotos syndrome caused by mutation in APC2|Sotos syndrome 3|Sotos syndrome type 3|APC2 Sotos syndrome|SOTOS3											OMIM:617169|UMLS:C4310684																		owl:Class
MONDO:0003084	biolink:NamedThing	uremic neuropathy	Neuropathy resulting from uremia.	mondoexuq1wtf												DOID:4675|SCTID:11659006|UMLS:C0268708|ICD9:357.4|NCIT:C27055																		owl:Class
MONDO:0003609	biolink:NamedThing	seminal vesicle cystadenoma	A rare benign cystadenoma that arises from the seminal vesicle.	mondoexuq1wtf	seminal vesicle cystadenoma											UMLS:C1519234|NCIT:C39907|DOID:5724																		owl:Class
MONDO:0000332	biolink:NamedThing	sennetsu fever	An ehlrichiosis caused by Neorickettsia sennetsu.	mondoexuq1wtf	Neorickettsia sennetsu infectious disease|Human Ehrlichial infection, sennetsu type|sennetsu ehrlichiosis|Neorickettsia sennetsu disease or disorder|Neorickettsia sennetsu caused disease or disorder|sennetsu fever											GARD:0000120|ICD9:088.89|SCTID:21013006|UMLS:C0520779|MESH:C537582|DOID:0050485														https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever				owl:Class
MONDO:0013378	biolink:NamedThing	orofacial cleft 10	Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.	mondoexuq1wtf	orofacial cleft type 10|orofacial cleft 10|orofacial cleft caused by mutation in SUMO1|OFC10|SUMO1 orofacial cleft|cleft lip with or without cleft palate, nonsyndromic, 10											OMIM:613705|MESH:C566605|DOID:0080403																		owl:Class
MONDO:0003962	biolink:NamedThing	Froelich syndrome	Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.	mondoexuq1wtf	sexual infantilism|dystrophia Adiposogenitalis|hypothalamic infantilism-obesity|Frohlich syndrome|adiposogenital dystrophy|Froehlich's syndrome|Froelich's syndrome|Babinski-Froelich syndrome|Frohlich's syndrome|Froelich's adiposity|Froehlich syndrome|Adiposodysgenesis|Launois-Cleret syndrome|adiposogenital syndrome|Fröhlich syndrome|Frolich's syndrome											DOID:6676|ICD9:253.8|SCTID:62999006|ICD10:E23.6|NCIT:C34625|GARD:0006463														https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome				owl:Class
MONDO:0002150	biolink:NamedThing	hypothalamic disease	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.	mondoexuq1wtf	disorder of hypothalamus|disease or disorder of hypothalamus|hypothalamus disease|hypothalamus disease or disorder|disease of hypothalamus											SCTID:399100005|DOID:1931|MESH:D007027|ICD9:253.9|UMLS:C0020655																		owl:Class
MONDO:0011547	biolink:NamedThing	cataract 31 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.	mondoexuq1wtf	early-onset non-syndromic cataract caused by mutation in CHMP4B|CTPP3|cataract, posterior polar, 3|CHMP4B early-onset non-syndromic cataract|cataract 31, multiple types|posterior polar cataract 3|CTRCT31|CPP3											MESH:C535343|GARD:0010227|DOID:0110265|ICD10:Q12.0|OMIM:605387																		owl:Class
MONDO:0009312	biolink:NamedThing	lipodystrophy due to peptidic growth factors deficiency	Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).	mondoexuq1wtf	combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|peptidic growth factors deficiency|Werner-like syndrome due to combined growth factor deficiency|Werner-like syndrome due to combined Growth Factor deficiency|growth factors, combined defect OF|peptide growth factors deficiency|Hoepffner Dreyer Reimers syndrome|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency|Hoepffner-Dreyer-Reimers syndrome											MESH:C565529|Orphanet:1979|UMLS:C2931279|ICD10:E88.1|GARD:0012604|GARD:0004280|SCTID:724176001|OMIM:233805																		owl:Class
MONDO:0020124	biolink:NamedThing	neuromuscular junction disease	Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.	mondoexuq1wtf												SCTID:128213006|ICD10:G70.9|UMLS:C0751950|ICD10:G70.8|MESH:D020511|ICD10:G70.1|DOID:439|ICD10:G70.0|ICD10:G70.2|Orphanet:98491																		owl:Class
MONDO:0021017	biolink:NamedThing	synaptopathy	A disease caused by dysfunction of synapses.	mondoexuq1wtf																														owl:Class
MONDO:0021168	biolink:NamedThing	hibernoma	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.	mondoexuq1wtf	Brown fat neoplasm|fetal fat cell lipoma|hibernoma, benign|Brown fat tumor|hibernoma											NCIT:C3702|ICDO:8880/0|SCTID:404064001|UMLS:C0205822																		owl:Class
MONDO:0017188	biolink:NamedThing	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency		mondoexuq1wtf	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form											Orphanet:276603|ICD10:E16.1																		owl:Class
MONDO:0030883	biolink:NamedThing	carpal tunnel syndrome 2		mondoexuq1wtf	CTS2|carpal tunnel syndrome 2											OMIM:619161																		owl:Class
MONDO:0008773	biolink:NamedThing	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis		mondoexuq1wtf	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis											UMLS:C1859818|MESH:C565960|OMIM:204730|GARD:0000763														https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis				owl:Class
MONDO:0007757	biolink:NamedThing	hyperkeratosis-hyperpigmentation syndrome	Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	hyperkeratosis-hyperpigmentation syndrome											ICD10:Q82.8|Orphanet:1336|OMIM:144190|UMLS:C1840428|MESH:C564172																		owl:Class
MONDO:0011460	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 6	An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.	mondoexuq1wtf	familial arrhythmogenic right ventricular dysplasia 6|arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular dysplasia type 6|arrhythmogenic right ventricular cardiomyopathy 6|ARVD6|ARVC6											UMLS:C1858378|ICD10:I42.8|DOID:0110075|OMIM:604401|MESH:C565775																		owl:Class
MONDO:0017363	biolink:NamedThing	idiopathic chronic eosinophilic pneumonia	Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).	mondoexuq1wtf	Carrington's pulmonary eosinophilia|chronic eosinophilic pneumonia|chronic eosinophilic pneumonia (CEP)|chronic idiopathic eosinophilic pneumonia|Carrington's disease|Carrington syndrome|eosinophilic idiopathic chronic pneumopathy											Orphanet:2902|GARD:0001130|ICD10:J82|MESH:C535590																		owl:Class
MONDO:0004890	biolink:NamedThing	partial central choroid dystrophy		mondoexuq1wtf	partial central choroid dystrophy|partial central dystrophy of choroid|choroidal dystrophy, central areolar|circinate choroidal dystrophy											ICD9:363.53|SCTID:193468002|DOID:9822|UMLS:C0339427																		owl:Class
MONDO:0008982	biolink:NamedThing	central areolar choroidal dystrophy	Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.	mondoexuq1wtf	choroidal dystrophy central areolar|CACD1|areolar atrophy of the macula|choroidal dystrophy, central areolar, 1|central areolar choroidal sclerosis|CACD|choroidal dystrophy											SCTID:231996009|Orphanet:75377|OMIMPS:215500|ICD10:H31.2|GARD:0010049|SCTID:312918002|DC:0000084|ICD9:363.54																		owl:Class
MONDO:0006203	biolink:NamedThing	extrahepatic bile duct squamous cell carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.	mondoexuq1wtf	squamous cell carcinoma of bile duct|squamous cell bile duct carcinoma|extrahepatic bile duct squamous cell carcinoma|bile duct squamous cell carcinoma|squamous cell carcinoma of the bile duct											NCIT:C5777|EFO:1000248																		owl:Class
MONDO:0012924	biolink:NamedThing	Diamond-Blackfan anemia 4	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.	mondoexuq1wtf	Diamond-Blackfan anemia 4|RPS17 Diamond-Blackfan anemia|DBA4|Diamond-Blackfan Anemia type 4|Diamond-Blackfan anemia caused by mutation in RPS17											OMIM:612527|MESH:C567281|UMLS:C2675860																		owl:Class
MONDO:0001742	biolink:NamedThing	interval angle-closure glaucoma		mondoexuq1wtf	angle-closure glaucoma, subacute|intermittent angle-closure glaucoma|prodromal angle closure glaucoma											ICD9:365.21|ICD10:H40.23|UMLS:C0154945|DOID:13549|COHD:437269|SCTID:65460003																		owl:Class
MONDO:0013905	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 13	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.	mondoexuq1wtf	SCAR13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive 13|spinocerebellar ataxia, autosomal recessive type 13|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome											ICD10:G11.1|OMIM:614831|DOID:0080062|Orphanet:324262|UMLS:C3553816																		owl:Class
MONDO:0006919	biolink:NamedThing	potassium deficiency	A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)	mondoexuq1wtf												EFO:1001120|MESH:D011191|MedDRA:10036445																		owl:Class
MONDO:0008694	biolink:NamedThing	pseudoprogeria syndrome	Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.	mondoexuq1wtf	intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes-intellectual disability syndrome|absent eyebrows and eyelashes with intellectual disability|pseudoprogeria syndrome|absent eyebrows and eyelashes with mental retardation|Hal-Berg-Rudolph syndrome|eyebrows and eyelashes absence-intellectual disability syndrome											OMIM:200130|MESH:C563111|Orphanet:2985|GARD:0000415|ICD10:Q87.8|SCTID:733086003|UMLS:C0796125														https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome				owl:Class
MONDO:0017942	biolink:NamedThing	Hendra virus infection	Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.	mondoexuq1wtf	Hendra henipavirus caused disease or disorder|Hendra henipavirus disease or disorder|Hendra henipavirus infectious disease											Orphanet:324632|ICD10:B33.8																		owl:Class
MONDO:0044795	biolink:NamedThing	epithelioid cell nevus	A nevus characterized by the presence of large epithelioid melanocytes.	mondoexuq1wtf	epithelioid cell nevus											UMLS:C0259820|NCIT:C66757																		owl:Class
MONDO:0044793	biolink:NamedThing	spitz nevus	A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.	mondoexuq1wtf	spitz nevus|benign juvenile melanoma|spindle and/ or epithelioid cell Nevus|spitz nevi|juvenile nevus|spitz naevus											GARD:0010412|ICDO:8770/0|NCIT:C27007																		owl:Class
MONDO:0007861	biolink:NamedThing	isolated cloverleaf skull syndrome	Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.	mondoexuq1wtf	cloverleaf skull syndrome|cloverleaf skull|Kleeblattschaedel syndrome|isolated cloverleaf skull syndrome|Kleeblattschaedel deformity syndrome|Kleeblattschaedel-deformity syndrome|Kleeblattschadel|KLEEBLATTSCHAEDEL											SCTID:254022009|MESH:C536884|ICD10:Q75.0|GARD:0003115|UMLS:CN201565|OMIM:148800|Orphanet:2343														https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome				owl:Class
MONDO:0023098	biolink:NamedThing	extrasystoles short stature hyperpigmentation microcephaly		mondoexuq1wtf	Char douglas Dungan syndrome											GARD:0002213														https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly				owl:Class
MONDO:0001888	biolink:NamedThing	anus lymphoma	A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.	mondoexuq1wtf	lymphoma of the anus|primary anal lymphoma|anus lymphoma|anal lymphoma|lymphoma of anus											NCIT:C5601|UMLS:C1332268|DOID:14139																		owl:Class
MONDO:0013548	biolink:NamedThing	acetyl-CoA acetyltransferase-2 deficiency		mondoexuq1wtf	acetoacetyl CoA thiolase, cytosolic|Acetocoenzyme A acetyltransferase 2|ACAT2D|acetyl-CoA acetyltransferase-2 deficiency|ACETYL-CoA acetyltransferase-2 deficiency|Acetyl CoA acetyltransferase 2 deficiency|ACAT2|Acat2 deficiency											GARD:0009154|MESH:C536005|OMIM:614055|UMLS:C0342735														https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency				owl:Class
MONDO:0002672	biolink:NamedThing	acinar prostate adenocarcinoma, signet ring variant	A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.	mondoexuq1wtf	prostate signet ring cell adenocarcinoma|prostate signet Ring cell carcinoma|prostate signet ring cell carcinoma|prostate gland signet ring cell carcinoma|signet Ring cell carcinoma of the prostate|acinar prostate adenocarcinoma, signet Ring variant|signet Ring cell carcinoma of prostate											DOID:3504|UMLS:C1335520|NCIT:C5535																		owl:Class
MONDO:0002493	biolink:NamedThing	prostatic acinar adenocarcinoma	An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.	mondoexuq1wtf	acinar adenocarcinoma of the prostate|prostate acinar adenocarcinoma|acinar adenocarcinoma of prostate|acinar prostate adenocarcinoma|prostatic acinar adenocarcinoma											UMLS:C1332139|DOID:3024|NCIT:C5596																		owl:Class
MONDO:0030015	biolink:NamedThing	bone marrow failure syndrome 6		mondoexuq1wtf	BONE MARROW FAILURE SYNDROME 6|bone marrow failure syndrome 6|BMFS6											OMIM:618849																		owl:Class
MONDO:0019957	biolink:NamedThing	PPoma	PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).	mondoexuq1wtf	pancreatic polypeptide neoplasm|pancreatic polypeptide tumor|pancreatic polypeptidoma											Orphanet:97278|ICDO:8152/1|UMLS:C0346407|SCTID:255039001|UMLS:C1882278|NCIT:C67453|UMLS:CN206879|ICD9:239.89|ICD10:E16.8																		owl:Class
MONDO:0017219	biolink:NamedThing	microform holoprosencephaly	Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.	mondoexuq1wtf	HPE, minor form|holoprosencephaly-like|Microform HPE|HPE-L|Holoprosencéphalie, minor form|HoloprosencC)phalie, minor form											DOID:0111380|UMLS:CN202701|Orphanet:280200|UMLS:CN236719|ICD10:Q04.2																		owl:Class
MONDO:0017560	biolink:NamedThing	congenital genu recurvatum	An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.	mondoexuq1wtf	hyperextension of knee deformity|genu recurvatum|hyperextension deformity of knee											NCIT:C103184|ICD9:754.40|SCTID:205063003|ICD10:Q68.2|COHD:78241|Orphanet:295229																		owl:Class
MONDO:0010310	biolink:NamedThing	osteopathia striata with cranial sclerosis	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.	mondoexuq1wtf	hyperostosis generalisata with striations|osteopathia striata cranial sclerosis|Robinow-Unger syndrome|OSCS|osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|osteopathia striata - cranial sclerosis											OMIM:300373|DOID:0060886|EFO:0005834|SCTID:254129003|UMLS:C0432268|ICD10:Q78.8|GARD:0004148|Orphanet:2780|MESH:C536053|ICD9:733.99																		owl:Class
MONDO:0043224	biolink:NamedThing	multi-infarct dementia	A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.	mondoexuq1wtf	Binswanger disease|dementia multi-infarct|Multiinfarct Dementias|lacunar dementia|Dementias, Multiinfarct|dementia, lacunar|Multiinfarct dementia|Dementias, lacunar|lacunar Dementias|Binswanger's disease|multi infarct dementia|dementia multi-infarcts|multi-infarct Dementias|multi-infarct, dementia|dementia, Multiinfarct|multi-infarct dementia|arteriosclerotic dementia|multi-infarcts, dementia|dementia multi infarct|dementia, multi infarct|Dementias, multi-infarct											NCIT:C34522|MESH:D015161|SCTID:56267009|GARD:0005925																		owl:Class
MONDO:0013734	biolink:NamedThing	microphthalmia, syndromic 11	Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.	mondoexuq1wtf	syndromic microphthalmia caused by mutation in VAX1|VAX1 syndromic microphthalmia|microphthalmia, syndromic 11|microphthalmia, syndromic type 11|MCOPS11											OMIM:614402|UMLS:C3553077																		owl:Class
MONDO:0043267	biolink:NamedThing	rheumatoid vasculitis	Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.	mondoexuq1wtf	rheumatoid Vasculitides|Vasculitides, rheumatoid|rheumatoid vasculitis|vasculitis, rheumatoid											UMLS:C0240903|MESH:D056653|GARD:0007577|SCTID:400054000																		owl:Class
MONDO:0008287	biolink:NamedThing	Greig cephalopolysyndactyly syndrome	Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.	mondoexuq1wtf	polysyndactyly with peculiars skull shape|Greig cephalosyndactyly syndrome|Greig syndrome|polysyndactyly with peculiar skull Shape|Greig's syndrome|GCPS|Greig cephalopolysyndactyly syndrome											UMLS:C0265306|DOID:14761|ICD10:Q87.0|NCIT:C35255|GARD:0006550|OMIM:175700|MESH:C537300|SCTID:32985001|Orphanet:380|MedDRA:10053878														https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome				owl:Class
MONDO:0012447	biolink:NamedThing	synpolydactyly type 3		mondoexuq1wtf	SD2c|synpolydactyly 3|synpolydactyly, Malik type|SPD3|SD2, Malik type|SPD, Malik type											Orphanet:295199|MESH:C565216|OMIM:610234|UMLS:C1853255|ICD10:Q70.0|ICD10:Q70.2																		owl:Class
MONDO:0014943	biolink:NamedThing	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.	mondoexuq1wtf	MTDPS15|TFAM mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|mitochondrial DNA depletion syndrome caused by mutation in TFAM											OMIM:617156|UMLS:C4310690|DOID:0080337																		owl:Class
MONDO:0010931	biolink:NamedThing	vitamin D-dependent rickets, type 2B	Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.	mondoexuq1wtf	VDDR2B|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|vitamin D receptor signaling defect rickets|vitamin D resistant rickets|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor|vitamin D dependent rickets 2b|vitamin D-dependent rickets type II without alopecia											OMIM:600785|NCIT:C131076|SCTID:237895001|UMLS:C2748783																		owl:Class
MONDO:0020690	biolink:NamedThing	adult glioblastoma		mondoexuq1wtf	adult glioblastoma|grade IV adult astrocytic neoplasm|glioblastoma|grade IV adult astrocytic tumor|adult glioblastoma multiforme											NCIT:C9094																		owl:Class
MONDO:0017157	biolink:NamedThing	pulmonary hypertension owing to lung disease and/or hypoxia		mondoexuq1wtf	pulmonary hypertension due to lung disease and/or hypoxia|PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia											Orphanet:275837|SCTID:697910001|UMLS:CN202580|ICD9:416.8|ICD10:I27.2|UMLS:C3698136																		owl:Class
MONDO:0009098	biolink:NamedThing	dextrocardia with unusual facies and microphthalmia		mondoexuq1wtf	dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability|dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|Aughton syndrome|dextrocardia with unusual facies and microphthalmia											UMLS:C1857298|GARD:0000136|MESH:C538269|OMIM:221950														https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia				owl:Class
MONDO:0001435	biolink:NamedThing	bullous retinoschisis		mondoexuq1wtf												SCTID:65545003|UMLS:C0344289|DOID:12108|ICD9:361.12|COHD:381288																		owl:Class
MONDO:0007814	biolink:NamedThing	immune deficiency, familial variable		mondoexuq1wtf	immune deficiency, familial variable											OMIM:146830|GARD:0002984|MESH:C564136|UMLS:C1840266														https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable				owl:Class
MONDO:0033012	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 2		mondoexuq1wtf	EKVP2|erythrokeratodermia variabilis ET progressiva 2											OMIM:617524|UMLS:C4479618|DOID:0080248																		owl:Class
MONDO:0002638	biolink:NamedThing	glossopharyngeal nerve neoplasm	A neoplasm involving a glossopharyngeal nerve.	mondoexuq1wtf	neoplasm of the Ninth cranial nerve|Ninth cranial nerve neoplasms|tumor of the Ninth cranial nerve|Ninth cranial nerve tumor|glossopharyngeal nerve tumors|glossopharyngeal nerve tumor|tumor of glossopharyngeal nerve|neoplasm of Ninth cranial nerve|IXth cranial nerve neoplasms|tumor of the glossopharyngeal nerve|Ninth cranial nerve tumors|glossopharyngeal nerve neoplasm|IXth cranial nerve tumors|tumor of Ninth cranial nerve|neoplasm of glossopharyngeal nerve|Ninth cranial nerve neoplasm|neoplasm of the glossopharyngeal nerve|glossopharyngeal nerve neoplasm (disease)|glossopharyngeal nerve neoplasms											NCIT:C5828|SCTID:126975006|UMLS:C1263900|DOID:3417|ICD9:239.7																		owl:Class
MONDO:0007092	biolink:NamedThing	amelogenesis imperfecta type 1B	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.	mondoexuq1wtf	amelogenesis imperfecta, type IB|hereditary localized enamel hypoplasia|ENAM amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in enam|amelogenesis imperfecta type IB|autosomal dominant hypoplastic local amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic local, autosomal dominant|AI1B|amelogenesis imperfecta, type 1B|amelogenesis imperfecta caused by mutation in ENAM|AIH2|enamel hypoplasia, hereditary localized|enam amelogenesis imperfecta											ICD10:K00.5|MESH:C562879|UMLS:C0399368|DOID:0110052|SCTID:234961008|OMIM:104500|ICD9:520.5																		owl:Class
MONDO:0017406	biolink:NamedThing	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome		mondoexuq1wtf	hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome											Orphanet:293967|UMLS:CN203156																		owl:Class
MONDO:0019893	biolink:NamedThing	distal monosomy 19p13.3	Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	mondoexuq1wtf	distal deletion 19p|telomeric deletion 19p											Orphanet:96129|ICD10:Q93.5																		owl:Class
MONDO:0015101	biolink:NamedThing	Marin-Amat syndrome		mondoexuq1wtf												Orphanet:101104|UMLS:CN197448|ICD10:Q07.8																		owl:Class
MONDO:0016262	biolink:NamedThing	leiomyosarcoma of the corpus uteri	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of uterus|leiomyosarcoma of body of uterus|uterine body leiomyosarcoma|uterine leiomyosarcoma|leiomyosarcoma of uterine corpus|leiomyosarcoma of the uterine body|leiomyosarcoma of the uterus|leiomyosarcoma of uterine body|uterus leiomyosarcoma|uterine corpus leiomyosarcoma|leiomyosarcoma of the corpus uteri|corpus uteri leiomyosarcoma|leiomyosarcoma - uterus|leiomyosarcoma of corpus uteri|leiomyosarcoma of the body of uterus|body of uterus leiomyosarcoma|leiomyosarcoma of the uterine corpus											DOID:5289|UMLS:C0280631|NCIT:C6340|ICD10:C54.2|SCTID:447389009|Orphanet:213625|ONCOTREE:ULMS																		owl:Class
MONDO:0004526	biolink:NamedThing	mixed endometrial stromal and smooth muscle tumor	A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.	mondoexuq1wtf	Stromomyoma|uterine corpus soft tissue neoplasm|mixed endometrial stromal and smooth muscle neoplasm											DOID:8302|UMLS:C1513364|NCIT:C40178|UMLS:C1519865																		owl:Class
MONDO:0019800	biolink:NamedThing	chronic hepatic porphyria	Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).	mondoexuq1wtf	acute hepatic porphyria, chronic|chronic acute hepatic porphyria											ICD10:E80.2|Orphanet:95161																		owl:Class
MONDO:0018826	biolink:NamedThing	Lewis-Sumner syndrome	A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.	mondoexuq1wtf	multifocal acquired demyelinating sensory and motor neuropathy|MADSAM											MedDRA:10065580|ICD10:G61.8|GARD:0013070|Orphanet:48162|UMLS:C1695985														https://github.com/monarch-initiative/mondo/issues/2760|https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome				owl:Class
MONDO:0100007	biolink:NamedThing	chronic inflammatory demyelinating polyneuropathy	A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.	mondoexuq1wtf	CIDP|chronic inflammatory demyelinating polyradiculoneuropathy							http://orcid.org/0000-0001-5208-3432				Orphanet:2932														https://github.com/monarch-initiative/mondo/issues/2760				owl:Class
MONDO:0003181	biolink:NamedThing	lung adenoid cystic carcinoma	A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.	mondoexuq1wtf	lung adenoid cystic cancer|lung adenocystic carcinoma|pulmonary adenocystic carcinoma|adenoid cystic carcinoma of the lung|lung adenoid cystic carcinoma|adenocystic carcinoma of the lung|pulmonary adenoid cystic carcinoma|LUACC|adenoid cystic carcinoma of lung|adenocystic carcinoma of lung											SCTID:707466008|NCIT:C5666|UMLS:C1334439|ONCOTREE:LUACC|DOID:4872|ICD9:162.9																		owl:Class
MONDO:0100420	biolink:NamedThing	acute myeloid leukemia, KIT gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)	mondoexuq1wtf	AML, CD117 Gene Mutation|AML, c-KIT Gene Mutation|AML, CD117 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation|AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KIT gene mutation|AML, C-KIT Mutation																													owl:Class
MONDO:0002938	biolink:NamedThing	metatypical basal cell carcinoma	A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.	mondoexuq1wtf	skin metatypical basal cell carcinoma|skin metatypical carcinoma|basosquamous carcinoma of skin											DOID:4281|ICDO:8095/3|SCTID:254702000|NCIT:C66903																		owl:Class
MONDO:0007854	biolink:NamedThing	keratolytic winter erythema	Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.	mondoexuq1wtf	Oudtshoorn skin|KWE|keratolytic WINTER erythema|Erythrokeratolysis hiemalis|Oudtshoorn skin disease|Erythrokeratolysis hiemalis ichthyosis|keratolytic winter erythema|Oudtshoorn disease											ICD9:695.89|GARD:0008275|UMLS:C0406756|SCTID:239064000|OMIM:148370|MESH:C536155|Orphanet:50943														https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema				owl:Class
MONDO:0009788	biolink:NamedThing	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive		mondoexuq1wtf	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive											OMIM:258650																		owl:Class
MONDO:0005967	biolink:NamedThing	splenic tuberculosis	Infection of the spleen with species of mycobacterium.	mondoexuq1wtf												ICD10:A18.85|MESH:D014400|EFO:0007492|DOID:9305|UMLS:C0041331|ICD9:017.7|SCTID:28399005																		owl:Class
MONDO:0008833	biolink:NamedThing	renal-hepatic-pancreatic dysplasia 1	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.	mondoexuq1wtf	NPHP3 renal-hepatic-pancreatic dysplasia|Rhpd|renal-hepatic-pancreatic dysplasia type 1|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|RHPD1|renal-hepatic-pancreatic dysplasia 1											UMLS:C3715199|OMIM:208540																		owl:Class
MONDO:0015126	biolink:NamedThing	polyendocrinopathy		mondoexuq1wtf												ICD10:E31.9|ICD10:E31.8|ICD10:E31.0|ICD10:E31.1|Orphanet:101956																		owl:Class
MONDO:0018926	biolink:NamedThing	human prion disease	Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).	mondoexuq1wtf	transmissible spongiform encephalopathy|TSE											Orphanet:56970|ICD10:A81.1|ICD10:A81.8|ICD10:A81.0|ICD10:A81.9																		owl:Class
MONDO:0009732	biolink:NamedThing	congenital nephrotic syndrome, Finnish type	Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.	mondoexuq1wtf	NPHS1|congenital nephrotic syndrome 1|congenital nephrotic syndrome - Finnish type|nephrotic syndrome, type 1|nephrosis, congenital|congenital nephrotic syndrome Finnish type|nephrotic syndrome - NPHS1 associated|Finnish congenital nephrosis|nephrotic syndrome, congenital|nephrosis 1, congenital, Finnish type|CnF											GARD:0001500|UMLS:C0403399|MedDRA:10060740|OMIM:256300|SCTID:197601003|Orphanet:839|NCIT:C122795|ICD10:N04.8														https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type				owl:Class
MONDO:0043352	biolink:NamedThing	fournier gangrene	An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.	mondoexuq1wtf	gangrene, Fournier|Fournier disease|fournier's gangrene|Fourniers disease|Fournier's gangrene|Fournier's disease|Fourniers gangrene|gangrene, Fournier's|fournier gangrene											UMLS:C0238419|SCTID:398318005|MESH:D018934|GARD:0010912																		owl:Class
MONDO:0011820	biolink:NamedThing	scoliosis, isolated, susceptibility to, 2		mondoexuq1wtf	scoliosis, isolated, susceptibility to, 2|IS2											OMIM:607354																		owl:Class
MONDO:0023286	biolink:NamedThing	graphite pneumoconiosis		mondoexuq1wtf	carbon pneumoconiosis|graphite fibrosis of lung|graphite lung disease|graphite pneumoconiosis|graphite fibrosis|graphitosis											ICD9:503|SCTID:17385007|GARD:0008359|UMLS:C0264439														https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis				owl:Class
MONDO:0002545	biolink:NamedThing	spinal cord disease	A disease involving the spinal cord.	mondoexuq1wtf	spinal cord disease|disease of spinal cord|myelopathy|disease of the spinal cord|disease or disorder of spinal cord|spinal cord disease or disorder|spinal cord disorder|disorder of spinal cord											ICD10:G95.9|SCTID:48522003|MESH:D013118|UMLS:C0037928|DOID:319|COHD:135526|NCIT:C97110|ICD9:336.9|ICD9:336.8																		owl:Class
MONDO:0009889	biolink:NamedThing	autosomal recessive polycystic kidney disease	Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.	mondoexuq1wtf	polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type I|PKHD1|autosomal recessive polycystic kidney|ARPKD|AR-PKD|polycystic kidney disease, autosomal recessive|polycystic kidney disease, infantile type											Orphanet:731|ICD10:Q61.1|UMLS:C0085548|MedDRA:10036047|GARD:0008378|ICD9:753.14|NCIT:C84579|DOID:0110861|SCTID:28770003																		owl:Class
MONDO:0006108	biolink:NamedThing	bile duct adenoma	A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.	mondoexuq1wtf	adenoma of bile duct|Cholangioma|Hepatocholangiocellular adenoma|bile duct adenoma (morphologic abnormality)|CHOLANGIOMA, benign|Cholangioadenoma|bile duct adenoma|adenoma of the bile duct|Hepatocholangioma											UMLS:C0008309|DOID:5381|SCTID:424091006|NCIT:C2942|ICDO:8160/0|MESH:D002759|EFO:1000123																		owl:Class
MONDO:0012967	biolink:NamedThing	hemolytic anemia due to adenylate kinase deficiency	Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	mondoexuq1wtf	ADENYLATE KINASE deficiency, hemolytic anemia due to											MESH:C567228|ICD10:D55.3|OMIM:612631|SCTID:766982000|UMLS:C2675459|Orphanet:86817																		owl:Class
MONDO:0024416	biolink:NamedThing	Neorickettsia infectious disease	A disease caused by infection with Neorickettsia.	mondoexuq1wtf	neorickettsiosis|Neorickettsia caused disease or disorder|Neorickettsia disease or disorder											UMLS:C0276121|SCTID:78355003																		owl:Class
MONDO:0018829	biolink:NamedThing	familial schizencephaly	An instance of schizencephaly that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary schizencephaly|familial schizencephaly											MESH:C538514|UMLS:C2931870|GARD:0000166|UMLS:CN776926|Orphanet:481986																		owl:Class
MONDO:0009884	biolink:NamedThing	platelet prostacyclin receptor defect		mondoexuq1wtf	platelet prostacyclin receptor defect|Vienna-Hietzing defect											UMLS:C1849774|OMIM:262875|MESH:C564884																		owl:Class
MONDO:0005363	biolink:NamedThing	focal segmental glomerulosclerosis	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.	mondoexuq1wtf	focal glomerular sclerosis|FSGS - focal segmental glomerulosclerosis|FGS (focal glomerular sclerosis)|FSGS|focal glomerulosclerosis|FGS											OMIMPS:603278|DOID:1312|UMLS:CN043606|MESH:D005923|ICD9:582.1|GARD:0006517|NCIT:C37308|EFO:0004236|SCTID:236403004																		owl:Class
MONDO:0020220	biolink:NamedThing	corneoiridogoniodysgenesis		mondoexuq1wtf												Orphanet:98636																		owl:Class
MONDO:0002664	biolink:NamedThing	extrahepatic bile duct signet ring cell carcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.	mondoexuq1wtf	extrahepatic bile duct signet Ring cell carcinoma|signet Ring cell carcinoma of bile duct|signet Ring cell bile duct carcinoma|signet Ring cell carcinoma of the bile duct|bile duct signet ring cell carcinoma|bile duct signet Ring cell carcinoma											DOID:3494|NCIT:C5776|UMLS:C0861859																		owl:Class
MONDO:0012627	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 13	Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.	mondoexuq1wtf	EIG13|GABRA1 juvenile myoclonic epilepsy|epilepsy, idiopathic generalized, susceptibility to, type 13|susceptibility to idiopathic generalized epilepsy 13|juvenile myoclonic epilepsy caused by mutation in GABRA1|epilepsy, juvenile myoclonic, susceptibility to, 5|epilepsy, idiopathic generalized, susceptibility to, 13|epilepsy, childhood absence, susceptibility to, 4					Editor note: check classification under EIG						DOID:0111314|OMIM:611136|MESH:C567002																		owl:Class
MONDO:0018018	biolink:NamedThing	wild type ATTR amyloidosis		mondoexuq1wtf	SSA|ATTRwt-related amyloidosis|wild type ATTR-related amyloidosis|ATTRwt amyloidosis|Senile systemic amyloidosis											SCTID:237877004|Orphanet:330001|UMLS:CN204235|ICD10:E85.8|ICD9:277.39|UMLS:C0342623																		owl:Class
MONDO:0020449	biolink:NamedThing	persistent eustachian valve		mondoexuq1wtf												Orphanet:99120|ICD10:Q26.8																		owl:Class
MONDO:0016467	biolink:NamedThing	isotretinoin syndrome	Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.	mondoexuq1wtf	Isotretinoin teratogen syndrome|Accutane-exposed pregnancies|Isotretinoin embryopathy|retinoic acid embryopathy|Isotretinoin (RoAccutane) embryopathy|Acutane embryopathy|Accutane fetal effects of|fetal retinoid syndrome|fetal isotretinoin syndrome|Isotretinoin fetal effects of|Retinoids embryopathy											MESH:C535670|ICD10:Q86.8|Orphanet:2305|NCIT:C98929|SCTID:36871005|GARD:0000517																		owl:Class
MONDO:0003362	biolink:NamedThing	cutaneous leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	cutaneous leiomyosarcoma (disease)|leiomyosarcoma of zone of skin|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|zone of skin leiomyosarcoma|skin leiomyosarcoma|leiomyosarcoma of skin		cutaneous leiomyosarcoma (disease)									DOID:5273|NCIT:C4484|HP:0006755|UMLS:C0346067|SCTID:254771006																		owl:Class
MONDO:0016091	biolink:NamedThing	adult Krabbe disease	A Krabbe disease that occurs in an adult.	mondoexuq1wtf	Krabbe disease of adults											Orphanet:206448|UMLS:CN200856|ICD10:E75.2																		owl:Class
MONDO:0018340	biolink:NamedThing	hereditary isolated aplastic anemia		mondoexuq1wtf												ICD10:D61.0|Orphanet:397692																		owl:Class
MONDO:0001713	biolink:NamedThing	inherited aplastic anemia	An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.	mondoexuq1wtf	congenital hypoplastic anemia|rare constitutional aplastic anemia|hypoplastic anemia - familial|hereditary aplastic anemia|congenital aplastic anemia|constitutional aplastic anaemia|constitutional aplastic anemia					In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency						Orphanet:68383|UMLS:C0949116|ICD9:284.09|MESH:D029502|UMLS:C0702159|GARD:0006149|SCTID:28975000|DOID:1342|ICD10:D61.01|ICD9:284.0|ICD10:D61.0																		owl:Class
MONDO:0005683	biolink:NamedThing	brucellosis	Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.	mondoexuq1wtf	Gibraltar fever|bang's disease|Mediterranean fever|Rock fever|Maltese fever|Cyprus fever|undulant fever|Malta fever											COHD:441497|MedDRA:10006500|NCIT:C84602|Orphanet:1304|UMLS:C0006309|ICD9:023.9|GARD:0005966|MESH:D002006|ICD9:023|ICD10:A23|ICD10:A23.3|ICD10:A23.8|SCTID:75702008|ICD10:A23.1|ICD10:A23.2|EFO:0007185|ICD10:A23.9|ICD10:A23.0|DOID:11077														https://rarediseases.info.nih.gov/diseases/5966/brucellosis				owl:Class
MONDO:0013082	biolink:NamedThing	Hirschsprung disease-ganglioneuroblastoma syndrome		mondoexuq1wtf	susceptibility to neuroblastoma 2|Hirschsprung disease ganglioneuroblastoma|neuroblastoma, susceptibility to, type 2|neuroblastoma with Hirschsprung disease|neuroblastoma, susceptibility to, 2|NBLST2											OMIM:613013|ICD10:Q43.1|Orphanet:2151|UMLS:C2751683|MESH:C538119|GARD:0002695																		owl:Class
MONDO:0006648	biolink:NamedThing	anterior compartment syndrome	Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.	mondoexuq1wtf	anterior compartment syndrome											UMLS:C0003152|ICD10:M76.81|MESH:D000868|DOID:3933|SCTID:12694001|EFO:1000808																		owl:Class
MONDO:0015232	biolink:NamedThing	radial deficiency-tibial hypoplasia syndrome		mondoexuq1wtf												ICD10:Q73.8|UMLS:CN226642|Orphanet:1121																		owl:Class
MONDO:0019809	biolink:NamedThing	congenital aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.	mondoexuq1wtf	congenital aortic insufficiency|Congential aortic valve insufficiency|congenital insufficiency of aortic valve											MedDRA:10010370|COHD:321107|SCTID:28656008|ICD10:Q23.1|NCIT:C103936|UMLS:C0158617|Orphanet:95449|ICD9:746.4																		owl:Class
MONDO:0008650	biolink:NamedThing	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	mondoexuq1wtf	vertebral fusion posterior lumbosacral blepharoptosis|Faulk-Epstein-Jones syndrome|familial posterior lumbosacral vertebral fusion and eyelid ptosis|congenital ptosis and posterior fusion of lumbosacral vertebrae|Faulk Epstein Jones syndrome|vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis											ICD10:Q87.5|UMLS:C1860464|OMIM:192800|GARD:0005487|MESH:C536344|SCTID:724064004|Orphanet:2064|GARD:0002276														https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome				owl:Class
MONDO:0005127	biolink:NamedThing	lepromatous leprosy	A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.	mondoexuq1wtf	type L leprosy|lepromatous leprosy [type L]											ICD9:030.0|COHD:137207|DOID:10887|SCTID:21560005|UMLS:C0023348|EFO:0001057|MESH:D015440|ICD10:A30.5																		owl:Class
MONDO:0006906	biolink:NamedThing	pigmented villonodular synovitis	Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.	mondoexuq1wtf	TGCT|diffuse-type GCT|localized pigmented villonodular synovitis|tenosynovial giant cell tumor|diffuse Giant cell tumor of Tenosynovium|villonodular synovitis|diffuse pigmented villonodular synovitis|diffuse-type giant cell tumor|villous tenosynovitis|tenosynovial giant cell tumors|TSGCT										MONDO:0004916	ICD9:719.20|ICD10:M12.20|GARD:0007396|UMLS:C0039106|COHD:81382|Orphanet:66627|DOID:2702|ICD9:719.2|EFO:1001106|DOID:9898|MESH:D013586|ICD9:719.28|ICD10:M12.2|SCTID:95412009														https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis				owl:Class
MONDO:0007272	biolink:NamedThing	hereditary hypercarotenemia and vitamin A deficiency	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	mondoexuq1wtf	HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant|Carotenoids, plasma level of, quantitative trait locus 1											Orphanet:199285|ICD10:E50.8|OMIM:115300|SCTID:726079008|MESH:C567296																		owl:Class
MONDO:0019857	biolink:NamedThing	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.	mondoexuq1wtf												SCTID:717333002|Orphanet:95715|UMLS:C4273914|ICD10:P72.2																		owl:Class
MONDO:0016555	biolink:NamedThing	transient congenital hypothyroidism due to maternal factor		mondoexuq1wtf												ICD10:P72.2|Orphanet:238696																		owl:Class
MONDO:0002991	biolink:NamedThing	adenocarcinofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.	mondoexuq1wtf	adenofibroma, malignant|malignant adenofibroma|adenocarcinofibroma											UMLS:C1510778|DOID:4422|NCIT:C40035																		owl:Class
MONDO:0006378	biolink:NamedThing	pleural epithelioid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.	mondoexuq1wtf	pleura malignant epithelioid mesothelioma|malignant epithelioid mesothelioma of pleura|pleural epithelioid mesothelioma											EFO:1000484|UMLS:C1709574|NCIT:C45662																		owl:Class
MONDO:0005112	biolink:NamedThing	malignant pleural mesothelioma	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.	mondoexuq1wtf	malignant mesothelioma of the pleura|pleura mesothelioma|malignant mesothelioma of pleura|pleural diffuse malignant mesothelioma|pleural malignant mesothelioma|malignant pleural mesothelioma											ICD10:C45.0|NCIT:C7376|UMLS:C0812413|DOID:7474|COHD:4111917|SCTID:254645002|EFO:0000770																		owl:Class
MONDO:0001470	biolink:NamedThing	anal margin squamous cell carcinoma	A squamous cell carcinoma arising from the perianal skin.	mondoexuq1wtf	squamous cell carcinoma of the anal margin|anal margin squamous cell carcinoma|perianal skin squamous cell carcinoma|squamous cell carcinoma of anal margin											UMLS:C1412037|NCIT:C6925|SCTID:255084004|ICD9:173.5|ICD10:C44.520|DOID:12239																		owl:Class
MONDO:0002941	biolink:NamedThing	anal margin carcinoma	A carcinoma that arises from epithelial cells of the perianal skin	mondoexuq1wtf	carcinoma of the anal margin|anal margin cancer|carcinoma of perianal skin|carcinoma of anal margin|anal margin carcinoma|perianal skin carcinoma											NCIT:C7472|UMLS:C0349534|DOID:4284																		owl:Class
MONDO:0021339	biolink:NamedThing	carcinoma of hard palate	A carcinoma that involves the hard palate.	mondoexuq1wtf	hard palate carcinoma|carcinoma of hard palate|carcinoma of the hard palate											SCTID:254434008|UMLS:C0345550|NCIT:C8394																		owl:Class
MONDO:0009484	biolink:NamedThing	primary ciliary dyskinesia 1	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.	mondoexuq1wtf	PCD|ciliary dyskinesia, primary, 1, with or without situs inversus|Kartagener syndrome|CILD1|DNAI1 primary ciliary dyskinesia|primary ciliary dyskinesia type 1|primary ciliary dyskinesia 1 with or without situs inversus|Polynesian bronchiectasis|ciliary dyskinesia, primary, type 1|primary ciliary dyskinesia caused by mutation in DNAI1|dextrocardia, bronchiectasis, and sinusitis|Siewert syndrome|ciliary dyskinesia, primary, 1|immotile cilia syndrome											ICD10:Q34.8|DOID:0110594|Orphanet:98861|OMIM:244400																		owl:Class
MONDO:0022468	biolink:NamedThing	antigen-peptide-transporter 2 deficiency	An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.	mondoexuq1wtf	TAP 2 deficiency|antigen processing (TAP) deficiency syndrome											GARD:0000732														https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency				owl:Class
MONDO:0030999	biolink:NamedThing	neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism		mondoexuq1wtf	NEDCAFD											OMIM:619244																		owl:Class
MONDO:0008249	biolink:NamedThing	pilonidal sinus	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.	mondoexuq1wtf	pilonidal sinus (disease)|pilonidal sinus		pilonidal sinus (disease)									MESH:D010864|HP:0010769|OMIM:173000|SCTID:47639008																		owl:Class
MONDO:0004108	biolink:NamedThing	diaphragma sellae meningioma	A meningioma that affects the diaphragma sellae.	mondoexuq1wtf	meningioma (disease) of diaphragma sellae|meningioma of the Diaphragma sellae|meningioma of the diaphragm sellae|diaphragma sellae meningioma (disease)|meningioma of Diaphragma sellae|meningioma of diaphragm sellae|diaphragm sellae meningioma											NCIT:C5283|UMLS:C1333283|DOID:7103																		owl:Class
MONDO:0004775	biolink:NamedThing	lens-induced iridocyclitis		mondoexuq1wtf	lens-induced iridocyclitis											COHD:438751|ICD10:H20.2|ICD9:364.23|UMLS:C0339320|SCTID:70461003|DOID:9388																		owl:Class
MONDO:0004773	biolink:NamedThing	iridocyclitis	An inflammation of the iris and the ciliary body	mondoexuq1wtf	iridocyclitis|iridocyclitis (disease)|primary iridocyclitis		iridocyclitis (disease)									NCIT:C34736|HP:0001094|ICD10:H20.01|ICD9:364.01|ICD9:364.3|SCTID:77971008|UMLS:C0022073|DOID:9383|ICD9:364.2																		owl:Class
MONDO:0003022	biolink:NamedThing	pediatric angiosarcoma	An angiosarcoma occurring in childhood.	mondoexuq1wtf	childhood hemangiosarcoma|childhood angiosarcoma|pediatric hemangiosarcoma|angiosarcoma (disease) of childhood|pediatric angiosarcoma (disease)|pediatric angiosarcoma|angiosarcoma|childhood angiosarcoma (disease)											NCIT:C9174|DOID:4505|UMLS:C0279988																		owl:Class
MONDO:0002659	biolink:NamedThing	uveal cancer	A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.	mondoexuq1wtf	uveal tumor|malignant uvea tumor|malignant uvea neoplasm|malignant tumor of uvea|malignant neoplasm of the uvea|uvea cancer|malignant neoplasm of uvea|cancer of uvea|malignant uveal neoplasm|malignant tumor of the uvea|malignant uveal tumor											DOID:3479|EFO:1001230|UMLS:C1334629|NCIT:C6105																		owl:Class
MONDO:0014793	biolink:NamedThing	microcephaly-congenital cataract-psoriasiform dermatitis syndrome		mondoexuq1wtf	MCCPD|sterol-C4-methyl oxidase deficiency|smo deficiency|microcephaly, congenital cataract, and psoriasiform dermatitis|Sc4Mol deficiency											UMLS:C4225189|OMIM:616834|Orphanet:488168																		owl:Class
MONDO:0010290	biolink:NamedThing	goiter, multinodular 2		mondoexuq1wtf	MNG2|goiter, multinodular 2											UMLS:C1846033|MESH:C564546|OMIM:300273																		owl:Class
MONDO:0013271	biolink:NamedThing	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome		mondoexuq1wtf	FND3|frontonasal dysplasia 3|frontonasal dysplasia type 3|ALX1-related frontonasal dysplasia											GARD:0012640|OMIM:613456|UMLS:C3150706|Orphanet:306542														https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome				owl:Class
MONDO:0003773	biolink:NamedThing	intracerebral cystic meningioma	A cystic meningioma that grows within the cerebral hemispheres.	mondoexuq1wtf												UMLS:C1334236|NCIT:C5269|DOID:6113																		owl:Class
MONDO:0006145	biolink:NamedThing	chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.	mondoexuq1wtf	chondroid chordoma (morphologic abnormality)|chondroid chordoma											ICDO:9371/3|DOID:4152|NCIT:C6902|EFO:1000174|UMLS:C1266173																		owl:Class
MONDO:0001983	biolink:NamedThing	peripheral degeneration of cornea		mondoexuq1wtf	peripheral degenerations of cornea											DOID:14507|SCTID:89182000|ICD10:H18.46|UMLS:C0155123|ICD9:371.48																		owl:Class
MONDO:0017271	biolink:NamedThing	autosomal ichthyosis syndrome with prominent hair abnormalities		mondoexuq1wtf												UMLS:CN202792|Orphanet:281222																		owl:Class
MONDO:0007233	biolink:NamedThing	second branchial cleft anomaly	A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.	mondoexuq1wtf	second branchial cleft fistula|second branchial cleft cyst|branchial cleft remnant|branchial cleft anomalies|branchial cysts|branchial cleft											NCIT:C104813|Orphanet:141022|SCTID:73381000119100|OMIM:113600|ICD10:Q18.0																		owl:Class
MONDO:0001564	biolink:NamedThing	binocular vision disease	Any inability to efficiently utilize and/or sustain binocular vision.	mondoexuq1wtf	binocular vision disorder|simultaneous visual perception without fusion											NCIT:C34422|DOID:12667|ICD9:368.30|ICD10:H53.30|SCTID:83275001																		owl:Class
MONDO:0007302	biolink:NamedThing	cervical hypertrichosis with underlying kyphoscoliosis		mondoexuq1wtf	hypertrichosis, posterior cervical, with underlying kyphoscoliosis|cervical hypertrichosis with underlying kyphoscoliosis											UMLS:C1861695|OMIM:117850|MESH:C566142																		owl:Class
MONDO:0015634	biolink:NamedThing	isolated osteopoikilosis	A osteopoikilosis (disease) that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic osteopoikilosis (disease)|isolated osteopoikilosis (disease)											ICD10:Q78.8|Orphanet:166119																		owl:Class
MONDO:0001414	biolink:NamedThing	osteopoikilosis	A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.	mondoexuq1wtf	osteopoikilosis|osteopathia condensans disseminata|osteopoikilosis (disease)|spotted bones		osteopoikilosis (disease)									SCTID:9147009|ICD10:Q78.8|GARD:0004158|DOID:11991|HP:0010739|MESH:D010023|ICD9:756.53|NCIT:C84985																		owl:Class
MONDO:0054582	biolink:NamedThing	Townes-Brocks syndrome 2		mondoexuq1wtf	TBS2|Townes-Brocks syndrome 2											OMIM:617466																		owl:Class
MONDO:0100417	biolink:NamedThing	acute myeloid leukemia, WT1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)	mondoexuq1wtf	AML, WT1 mutation|AML, WAGR Gene Mutation|AML, GUD Gene Mutation|AML, Wilms Tumor 1 Gene Mutation|AML, WT33 Gene Mutation|AML, WT1 gene mutation|AML, WIT-2 Gene Mutation																													owl:Class
MONDO:0007777	biolink:NamedThing	hypertaurinuric cardiomyopathy		mondoexuq1wtf	hypertaurinuric cardiomyopathy											UMLS:C1840385|OMIM:145350|MESH:C564157																		owl:Class
MONDO:0004356	biolink:NamedThing	childhood multilocular cystic kidney neoplasm	A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.	mondoexuq1wtf	childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal neoplasm|pediatric multilocular cystic renal tumor|pediatric multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic kidney neoplasm|childhood multilocular cystic kidney neoplasm|benign multilocular cystic renal tumor											UMLS:C1332983|NCIT:C6566|DOID:7762																		owl:Class
MONDO:0015569	biolink:NamedThing	congenital nasal pyriform aperture stenosis with holoprosencephaly		mondoexuq1wtf	apertura pyriformis with holoprosencephaly											ICD10:Q30.8|Orphanet:162521																		owl:Class
MONDO:0000351	biolink:NamedThing	disorder of methionine catabolism	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.	mondoexuq1wtf	hypermethioninemia|inborn error of methionine catabolic process|inborn methionine catabolic process disorder|rare inborn error of methionine catabolic process											DOID:0050544|SCTID:43123004|HP:0003235|UMLS:C4048705																		owl:Class
MONDO:0019032	biolink:NamedThing	X-linked intellectual disability with isolated growth hormone deficiency		mondoexuq1wtf	MRGH											UMLS:C1848068|Orphanet:67045|ICD10:E23.0																		owl:Class
MONDO:0010697	biolink:NamedThing	ophthalmoplegia, external, and myopia		mondoexuq1wtf	ophthalmoplegia, external, and myopia|myopia-ophthalmoplegia syndrome|OPEM											UMLS:C1839577|OMIM:311000|MESH:C564087																		owl:Class
MONDO:0011736	biolink:NamedThing	Cree intellectual disability syndrome		mondoexuq1wtf	Cree intellectual disability syndrome|Cree mental retardation syndrome											OMIM:606851|MESH:C564654|UMLS:C1847361																		owl:Class
MONDO:0009794	biolink:NamedThing	orofaciodigital syndrome IV	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.	mondoexuq1wtf	Mohr-Majewski syndrome|oral facial digital syndrome 4|oral-facial-digital syndrome type 4|orofaciodigital syndrome with tibial dysplasia|orofaciodigital syndrome IV|orofaciodigital syndrome type IV|OFD4|orofaciodigital syndrome 4|Baraitser-Burn syndrome|Ofd syndrome, Baraitser-Burn type|oral facial digital syndrome type 4|Ofd syndrome with tibial defects|oral-Facial-digital syndrome, type 4|OFD syndrome 4|Ofds 4|orofaciodigital syndrome type 4											MESH:C537133|Orphanet:2753|ICD10:Q87.0|SCTID:239031000|UMLS:C0406727|GARD:0000816|OMIM:258860|DOID:0060374														https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4				owl:Class
MONDO:0044626	biolink:NamedThing	female infertility due to oocyte meiotic arrest		mondoexuq1wtf												Orphanet:488191																		owl:Class
MONDO:0008229	biolink:NamedThing	peroneal nerve, accessory deep		mondoexuq1wtf	accessory deep peroneal nerve|peroneal nerve, accessory deep											MESH:C536001|UMLS:C1868426|GARD:0008546|OMIM:170980														https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve				owl:Class
MONDO:0004757	biolink:NamedThing	chronic ethmoidal sinusitis	Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	mondoexuq1wtf	chronic ethmoiditis|ethmoidal sinusitis - chronic|chronic ethmoidal sinusitis|ethmoid sinusitis, chronic|chronic ethmoid sinusitis											SCTID:73237007|UMLS:C0008681|ICD9:473.2|DOID:9312|ICD10:J32.2|NCIT:C34472|COHD:132932																		owl:Class
MONDO:0001783	biolink:NamedThing	endometrial stromal nodule	A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.	mondoexuq1wtf												DOID:1373|NCIT:C4262|UMLS:C0334485|SCTID:721571001|ICDO:8930/0|EFO:1000241																		owl:Class
MONDO:0002996	biolink:NamedThing	cavernous sinus meningioma	A meningioma that affects the cavernous sinus.	mondoexuq1wtf	meningioma of the cavernous sinus|meningioma of cavernous sinus|cavernous sinus meningioma (disease)|meningioma (disease) of cavernous sinus											UMLS:C1332865|NCIT:C5268|DOID:4435																		owl:Class
MONDO:0011843	biolink:NamedThing	hypertrophic cardiomyopathy 25	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.	mondoexuq1wtf	TCAP hypertrophic cardiomyopathy|CMH25|cardiomyopathy, familial hypertrophic, type 25|Tcap hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, 25|hypertrophic cardiomyopathy type 25|hypertrophic cardiomyopathy caused by mutation in TCAP|hypertrophic cardiomyopathy caused by mutation in Tcap											DOID:0110328|MESH:C564388|UMLS:C1843791|OMIM:607487																		owl:Class
MONDO:0003610	biolink:NamedThing	rete ovarii cystadenoma	An exceptionally rare cystadenoma that arises from the rete ovarii.	mondoexuq1wtf	rete ovarii cystadenoma											DOID:5725|NCIT:C40019|UMLS:C1514907																		owl:Class
MONDO:0013501	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.	mondoexuq1wtf	VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in VCP|amyotrophic lateral sclerosis, with or without frontotemporal dementia											OMIM:613954|DOID:0060205|UMLS:C3151403																		owl:Class
MONDO:0006149	biolink:NamedThing	clear cell papillary cystadenoma	A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.	mondoexuq1wtf	clear cell papillary cystadenoma											ICDO:8443/0|NCIT:C65203|UMLS:C1880102|EFO:1000181																		owl:Class
MONDO:0021677	biolink:NamedThing	post-infectious neuralgia		mondoexuq1wtf	postinfectious neuralgia											UMLS:C0032772|ICD9:729.2|SCTID:17111003																		owl:Class
MONDO:0014612	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.	mondoexuq1wtf	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4|PFBMFT4|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4											UMLS:C4225347|OMIM:616371																		owl:Class
MONDO:0008996	biolink:NamedThing	COACH syndrome 1	A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	mondoexuq1wtf	cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|Joubert syndrome with congenital hepatic fibrosis|Joubert syndrome with hepatic defect|COACH syndrome|gentile syndrome|cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|JS-H											GARD:0001410|SCTID:721847002|DOID:0111589|Orphanet:1454|MESH:C536430|ICD10:Q04.3|UMLS:C1857662|OMIM:216360																		owl:Class
MONDO:0004947	biolink:NamedThing	B-cell acute lymphoblastic leukemia	A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)	mondoexuq1wtf	B lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic lymphoma/leukemia|precursor B lymphoblastic leukemia/lymphoma|precursor B lymphoblastic lymphoma/leukemia											NCIT:C8936|SCTID:277571004|DOID:7061|EFO:0000094																		owl:Class
MONDO:0005982	biolink:NamedThing	tinea infection	A skin infection caused by a fungus.	mondoexuq1wtf	ringworm|Tinea caused disease or disorder|Tinea|Tinea infection|Tinea disease or disorder|Tinea infectious disease					Editor note: consider obsoleting as this is a loose grouping						UMLS:C0040247|NCIT:C112181|EFO:0007510																		owl:Class
MONDO:0003134	biolink:NamedThing	proliferative glomerulonephritis	A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.	mondoexuq1wtf												NCIT:C35281|DOID:4778|SCTID:441815006|ICD9:583.0|UMLS:C0235618																		owl:Class
MONDO:0009142	biolink:NamedThing	dystonia with Ringbinden		mondoexuq1wtf	dystonia with Ringbinden											UMLS:C1857089|OMIM:224550|MESH:C565608																		owl:Class
MONDO:0002914	biolink:NamedThing	childhood brain stem neoplasm	A neoplasm that affects the brain stem and occurs during childhood.	mondoexuq1wtf	childhood neoplasm of brain stem|childhood brainstem cancer|pediatric brainstem neoplasm|brain stem neoplasm|pediatric neoplasm of the brain stem|childhood brain stem tumor|pediatric tumor of brain stem|pediatric tumor of the brain stem|childhood tumor of the brain stem|pediatric neoplasm of brainstem|childhood neoplasm of the brainstem|pediatric brainstem cancer|childhood tumor of brainstem|childhood brainstem tumor|brainstem cancer of childhood|childhood brain stem neoplasm|pediatric brain stem tumor|pediatric neoplasm of the brainstem|pediatric tumor of the brainstem|pediatric tumor of brainstem|childhood brainstem neoplasm|childhood tumor of the brainstem|pediatric brainstem tumor|childhood neoplasm of brainstem|childhood tumor of brain stem|pediatric neoplasm of brain stem|pediatric brain stem neoplasm|childhood neoplasm of the brain stem											UMLS:C1332951|NCIT:C5969|EFO:1001767|DOID:4206																		owl:Class
MONDO:0002915	biolink:NamedThing	childhood infratentorial neoplasm	A neoplasm that affects the infratentorial region of the brain and occurs during childhood.	mondoexuq1wtf	infratentorial neoplasm of childhood|childhood infratentorial neoplasms|childhood infratentorial neoplasm|pediatric infratentorial neoplasm|childhood infratentorial tumor|pediatric infratentorial tumor|childhood infratentorial tumors											DOID:4207|NCIT:C5802|UMLS:C1332973																		owl:Class
MONDO:0006556	biolink:NamedThing	hand dermatosis	Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.	mondoexuq1wtf						Editor note: TODO check definition						MESH:D006229|EFO:1000706|UMLS:C0018567|DOID:3158																		owl:Class
MONDO:0016171	biolink:NamedThing	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies		mondoexuq1wtf												Orphanet:208981|ICD10:G61.8																		owl:Class
MONDO:0013939	biolink:NamedThing	peroxisome biogenesis disorder 7B		mondoexuq1wtf	peroxisome biogenesis disorder type 7B|PBD7B|peroxisome biogenesis disorder 7B											OMIM:614873|UMLS:C3553951														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0032726	biolink:NamedThing	combined oxidative phosphorylation deficiency 39		mondoexuq1wtf	COXPD39|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39											OMIM:618397|Orphanet:565624|DOID:0111475																		owl:Class
MONDO:0002068	biolink:NamedThing	female breast lower-inner quadrant cancer		mondoexuq1wtf	malignant neoplasm of lower-inner quadrant of female breast											SCTID:188153009|ICD9:174.3|ICD10:C50.3|ICD10:C50.31|UMLS:C0153551|DOID:1649																		owl:Class
MONDO:0011504	biolink:NamedThing	NDE1-related microhydranencephaly	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.	mondoexuq1wtf	microhydranencephaly|hydranencephaly and microcephaly|MHAC											OMIM:605013|GARD:0010216|ICD10:Q04.8|UMLS:C1857977|Orphanet:443162|MESH:C537555																		owl:Class
MONDO:0005503	biolink:NamedThing	developmental disorder of mental health	A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.	mondoexuq1wtf	developmental mental disorder											DOID:0060037|ICD9:315.8|EFO:0005548|SCTID:129104009																		owl:Class
MONDO:0012045	biolink:NamedThing	myopia 5, autosomal dominant		mondoexuq1wtf	myopia 5, autosomal dominant|MYP5											OMIM:608474|MESH:C563922|UMLS:C1837972																		owl:Class
MONDO:0044617	biolink:NamedThing	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome		mondoexuq1wtf												Orphanet:482606																		owl:Class
MONDO:0021127	biolink:NamedThing	has a syndromic presentation	An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.	mondoexuq1wtf																														owl:Class
MONDO:0021126	biolink:NamedThing	syndromic or isolated	An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features.	mondoexuq1wtf																														owl:Class
MONDO:0042705	biolink:NamedThing	prostatic malacoplakia associated with prostatic abscess		mondoexuq1wtf	prostatic malacoplakia with prostatic and seminal vesicle abscess											MESH:C537244|GARD:0000149|UMLS:C2931457																		owl:Class
MONDO:0007894	biolink:NamedThing	Leri pleonosteosis	Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.	mondoexuq1wtf	Leri pleonosteosis|pleonosteosis Leri type|Leri's pleonosteosis|Leri type pleonosteosis|chromosome 8q22.1 DUPLICATION syndrome											GARD:0000088|UMLS:C1835450|MESH:C537118|OMIM:151200|Orphanet:2900|ICD10:Q68.8														https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis				owl:Class
MONDO:0011338	biolink:NamedThing	Omenn syndrome	Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).	mondoexuq1wtf	reticuloendotheliosis, familial, with eosinophilia|reticuloendotheliosis familial with eosinophilia|Omenn syndrome|severe combined immunodeficiency with hypereosinophilia|combined immunodeficiency with hypereosinophilia											SCTID:722067005|ICD10:D81.8|UMLS:C1801959|NCIT:C61240|OMIM:603554|GARD:0008198|DOID:0060010|Orphanet:39041|MedDRA:10069097														https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome				owl:Class
MONDO:0014050	biolink:NamedThing	isolated microphthalmia 8	Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.	mondoexuq1wtf	microphthalmia, isolated type 8|isolated microphthalmia caused by mutation in ALDH1A3|ALDH1A3 isolated microphthalmia|microphthalmia, isolated 8|MCOP8|isolated microphthalmia type 8											UMLS:C3554524|DOID:0060841|OMIM:615113|ICD10:Q11.0																		owl:Class
MONDO:0008836	biolink:NamedThing	ataxia with myoclonic epilepsy and presenile dementia		mondoexuq1wtf	ataxia with myoclonic epilepsy and presenile dementia											UMLS:C1859646|OMIM:208700|MESH:C565933																		owl:Class
MONDO:0009147	biolink:NamedThing	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		mondoexuq1wtf	ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ECTD10B|ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive											UMLS:C3887494|OMIM:224900|DOID:0111665																		owl:Class
MONDO:0001615	biolink:NamedThing	epidemic keratoconjunctivitis	Keratoconjunctivitis resulting from infection by adenoviruses.	mondoexuq1wtf	EKC|shipyard eye											NCIT:C34590|ICD9:077.1|UMLS:C0014493|DOID:13014|SCTID:60548004|ICD10:B30.0|COHD:378361																		owl:Class
MONDO:0010894	biolink:NamedThing	maturity-onset diabetes of the young type 3	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.	mondoexuq1wtf	maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|HNF1A maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 3|MODY3|type 3 maturity-onset diabetes of the young|MODY, type 3|HNF1A-associated monogenic diabetes|MODY type 3|MODY hepatocyte nuclear factor-1-alpha related|diabetes mellitus MODY type 3|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes											DOID:0111102|NCIT:C129742|OMIM:600496|SCTID:609570008|MESH:C563933|UMLS:C1838100|GARD:0010658														https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3				owl:Class
MONDO:0011498	biolink:NamedThing	schizophrenia 9	A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.	mondoexuq1wtf	schizophrenia 9|SCZD9|schizophrenia susceptibility locus, chromosome 1Q42-related|schizophrenia type 9|schizophrenia 9 with or without an affective disorder											OMIM:604906|DOID:0070085|UMLS:C1858050																		owl:Class
MONDO:0006630	biolink:NamedThing	osteoarthritis, spine	A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).	mondoexuq1wtf												SCTID:8847002|MESH:D055013|EFO:1000787																		owl:Class
MONDO:0043762	biolink:NamedThing	tubal pregnancy	An abnormal pregnancy in which the conception is implanted in the fallopian tube.	mondoexuq1wtf	ectopic pregnancy of fallopian tube|fallopian tube pregnancy|tubal Pregnancies|fallopian pregnancy|tubal pregnancy|Pregnancies, tubal|fallopian tube ectopic pregnancy											MESH:D011274|SCTID:79586000|NCIT:C92946																		owl:Class
MONDO:0006416	biolink:NamedThing	small intestinal Burkitt lymphoma	A Burkitt lymphoma that arises from the small intestine.	mondoexuq1wtf	small intestinal Burkitt's lymphoma|small intestine Burkitts lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|small intestine Burkitt lymphoma|Burkitt lymphoma of small intestine|small intestinal Burkitt lymphoma|Burkitts lymphoma of small intestine											EFO:1000533|UMLS:C1335991|NCIT:C27409																		owl:Class
MONDO:0007243	biolink:NamedThing	Burkitt lymphoma	Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.	mondoexuq1wtf	small non-cleaved cell lymphoma, Burkitt's type|Burkitt's tumor|small non-cleaved cell lymphoma|BL|Burkitt's tumor or lymphoma|malignant lymphoma, Burkitt's type|Burkitt's lymphoma|Burkitt lymphoma|Burkitt lymphoma/leukaemia											OMIM:113970|MedDRA:10067184|GARD:0005973|MESH:D002051|Orphanet:543|NCIT:C2912|UMLS:C0006413|ICD10:C83.70|ICDO:9687/3|EFO:0000309|MedDRA:10053518|DOID:8584|ONCOTREE:BL|COHD:4041800|SCTID:118617000|MedDRA:10006595|ICD10:C83.7|ICD9:200.2																		owl:Class
MONDO:0002112	biolink:NamedThing	benign peritoneal mesothelioma	A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.	mondoexuq1wtf	peritoneal adenomatoid tumor|peritoneum benign mesothelioma|mesothelioma of peritoneum											DOID:1789|NCIT:C7354																		owl:Class
MONDO:0015161	biolink:NamedThing	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		mondoexuq1wtf	MCA without intellectual disability|multiple congenital anomalies without intellectual disability with or without dysmorphism											Orphanet:102285																		owl:Class
MONDO:0010695	biolink:NamedThing	occipital hair, white lock of		mondoexuq1wtf	occipital hair, white lock of											OMIM:310900																		owl:Class
MONDO:0060724	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 17		mondoexuq1wtf	GPIBD17|glycosylphosphatidylinositol biosynthesis defect 17											OMIM:618010|UMLS:CN248527																		owl:Class
MONDO:0005351	biolink:NamedThing	anorexia nervosa	A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.	mondoexuq1wtf												ICD9:307.1|ICD10:F50.0|EFO:0004215|DOID:8689|MESH:D000856|ICD10:F50.00|NCIT:C34387|SCTID:56882008|COHD:436675																		owl:Class
MONDO:0021056	biolink:NamedThing	familial adenomatous polyposis 1	Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.	mondoexuq1wtf	adenomatous polyposis coli, attenuated|polyposis, adenomatous intestinal|attenuated familial adenomatous polyposis caused by mutation in APC|Gardner syndrome|familial adenomatous polyposis, attenuated|FAP1|adenomatous polyposis of the colon|APC attenuated familial adenomatous polyposis|familial polyposis of the colon|familial adenomatous polyposis 1|brain tumor-polyposis syndrome 2											DOID:0080409|OMIM:175100																		owl:Class
MONDO:0003652	biolink:NamedThing	acute urate nephropathy	Urolithiasis in which the composition of the stones is predominantly urate.	mondoexuq1wtf	uric acid nephrolithiasis|uric acid urolithiasis											ICD9:274.11|NCIT:C123037|DOID:580|SCTID:236496000|UMLS:C0341712|ICD9:583.9|UMLS:C0403719|COHD:80070																		owl:Class
MONDO:0019149	biolink:NamedThing	cholesteryl ester storage disease	Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.	mondoexuq1wtf	cholesterol ester storage disease|CESD											UMLS:C0008384|SCTID:57218003|DOID:14502|ICD10:E75.5|GARD:0012099|Orphanet:75234																		owl:Class
MONDO:0000595	biolink:NamedThing	sexual and gender identity disorders	A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.	mondoexuq1wtf	sexual disorder											DOID:0060043|NCIT:C92202|SCTID:231532002																		owl:Class
MONDO:0013764	biolink:NamedThing	Joubert syndrome 16	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.	mondoexuq1wtf	Joubert syndrome type 16|TMEM138 Joubert syndrome|Joubert syndrome caused by mutation in TMEM138|JBTS16|Joubert syndrome 16											OMIM:614465|DOID:0110985|UMLS:C3280906																		owl:Class
MONDO:0018147	biolink:NamedThing	idiopathic macular telangiectasia type 3	Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	mondoexuq1wtf	occlusive idiopathic juxtafoveolar retinal telangiectasis											UMLS:CN204545|Orphanet:353351|ICD10:H35.5																		owl:Class
MONDO:0001370	biolink:NamedThing	pericardial effusion	Fluid collection within the pericardial sac, usually due to inflammation.	mondoexuq1wtf	pericardial effusion (disease)|fluid, pericardial|pericardial fluid|pericardial effusion		pericardial effusion (disease)									SCTID:373945007|UMLS:C0031039|NCIT:C3319|HP:0001698|DOID:118																		owl:Class
MONDO:0006400	biolink:NamedThing	salivary gland acinic cell carcinoma	A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.	mondoexuq1wtf	acinic cell tumor of salivary gland|salivary gland acinic cell neoplasm|salivary gland acinic cell cancer|salivary gland acinic cell tumor|acinic cell carcinoma of salivary gland|acinic cell tumor of the salivary gland|acinic cell carcinoma of the salivary gland|acinic cell neoplasm of the salivary gland|acinic cell neoplasm of salivary gland											NCIT:C8013|EFO:1000513|UMLS:C0279738																		owl:Class
MONDO:0015622	biolink:NamedThing	wound myiasis		mondoexuq1wtf	traumatic myiasis											ICD9:998.89|SCTID:240880004|UMLS:C0344061|ICD10:B87.1|Orphanet:165955																		owl:Class
MONDO:0012950	biolink:NamedThing	aneurysm, intracranial berry, 10		mondoexuq1wtf	aneurysm, intracranial BERRY, 10|ANIB10											OMIM:612587|UMLS:C2675484|MESH:C567237																		owl:Class
MONDO:0020312	biolink:NamedThing	atypical chronic myeloid leukemia		mondoexuq1wtf	aCML|subacute granulocytic leukemia|subacute myeloid leukemia|atypical CML|atypical chronic myeloid leukemia BCR-ABL1 negative					Editor note: consider merge with MONDO:0004653						ICD10:C92.2|DOID:0060597|MedDRA:10054651|Orphanet:98824																		owl:Class
MONDO:0043123	biolink:NamedThing	massa casaer ceulemans syndrome		mondoexuq1wtf	arthrogryposis multiplex congenita associated with lissencephaly											UMLS:C2931090|GARD:0003407|MESH:C536031																		owl:Class
MONDO:0045014	biolink:NamedThing	tetrahydrobiopterin metabolic process disease	A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.	mondoexuq1wtf	disorder of tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolism											UMLS:C0342676|SCTID:237913008																		owl:Class
MONDO:0000554	biolink:NamedThing	endocervical adenocarcinoma	An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.	mondoexuq1wtf	endocervix adenocarcinoma|endocervical adenocarcinoma, usual type											NCIT:C127907|SCTID:123842006|DOID:0050940|ONCOTREE:ECAD|UMLS:C4289591|UMLS:C1263762																		owl:Class
MONDO:0016905	biolink:NamedThing	partial deletion of the long arm of chromosome 6	Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial monosomy of the long arm of chromosome 6|chromosome 6q deletion|6q monosomy|6q deletion|deletion 6q|partial deletion of chromosome 6q|partial monosomy of chromosome 6q|partial monosomy 6q|partial deletion of the long arm of chromosome type 6|monosomy 6q											GARD:0003760|MESH:C537807|ICD10:Q93.5|Orphanet:262047|UMLS:C0795816																		owl:Class
MONDO:0024341	biolink:NamedThing	retinal cell neoplasm	A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.	mondoexuq1wtf	retinal cell tumor|retinal neural cell neoplasm|retinal cell neoplasm											UMLS:C1335765|NCIT:C7061																		owl:Class
MONDO:0001894	biolink:NamedThing	spinal cord sarcoma	A sarcoma that arises from the spinal cord.	mondoexuq1wtf	spinal cord sarcoma|sarcoma of the spinal cord|sarcoma of spinal cord											UMLS:C1336049|NCIT:C5152|DOID:14152																		owl:Class
MONDO:0009457	biolink:NamedThing	immunoglobulin d level in plasma, low		mondoexuq1wtf	IMMUNOGLOBULIN D level in plasma, LOW											OMIM:242890																		owl:Class
MONDO:0024885	biolink:NamedThing	malignant ovarian serous tumor	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.	mondoexuq1wtf	malignant ovarian serous tumor|ovarian serous tumor, malignant											NCIT:C40025																		owl:Class
MONDO:0044715	biolink:NamedThing	metopic ridging-ptosis-facial dysmorphism syndrome		mondoexuq1wtf												Orphanet:502430																		owl:Class
MONDO:0016039	biolink:NamedThing	infantile digital fibromatosis		mondoexuq1wtf	recurring digital fibrous tumor of childhood|Reye tumor|IDF|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|inclusion body fibromatosis											SCTID:399903008|GARD:0008487|UMLS:C1318562|ICD9:238.8|Orphanet:199267|ICD10:M72.8														https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis				owl:Class
MONDO:0009894	biolink:NamedThing	short-rib thoracic dysplasia 6 with or without polydactyly	A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.	mondoexuq1wtf	polydactyly with neonatal chondrodystrophy, type 2|polydactyly with neonatal chondrodystrophy type II|SRPS2A|Majewski syndrome|short rib-polydactyly syndrome type II|short rib-polydactyly syndrome type IIA|short rib-polydactyly syndrome, type 2|short-rib thoracic dysplasia 6 with or without polydactyly|Srps, type 2|SRTD6|polydactyly with neonatal chondrodystrophy, type II|short rib-polydactyly syndrome, type 2A											ICD10:Q77.2|DOID:0110092|OMIM:263520|NCIT:C122654																		owl:Class
MONDO:0019662	biolink:NamedThing	short rib-polydactyly syndrome, Majewski type		mondoexuq1wtf	short rib-polydactyly syndrome Majewski type|short rib-polydactyly syndrome type 2|polydactyly with neonatal chondrodystrophy type 2|SRPS type 2											SCTID:72922008|GARD:0004833|ICD9:756.3|ICD10:Q77.2|Orphanet:93269																		owl:Class
MONDO:0015660	biolink:NamedThing	sporadic fetal brain disruption sequence	Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	mondoexuq1wtf												UMLS:CN237425|SCTID:763717004|Orphanet:1665|ICD10:Q02																		owl:Class
MONDO:0700064	biolink:NamedThing	aneuploidy	A chromosomal abnormality in which there is an addition or loss of chromosomes within a set.	mondoexuq1wtf	chromosome number anomaly							http://orcid.org/0000-0002-4142-7153				NCIT:C2873																		owl:Class
MONDO:0020460	biolink:NamedThing	acquired von willebrand syndrome	Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.	mondoexuq1wtf	acquired von willebrand disease|AVWS|Willebrand disease, acquired|acquired von Willebrand disease (hereditary or acquired)|acquired von Willebrand disease											UMLS:C0272362|MedDRA:10069495|Orphanet:99147|SCTID:234451005|GARD:5573|ICD10:D68.4|PMID:28028990|DOID:0111146|GARD:0005573|MEDDRA:10069495														https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome				owl:Class
MONDO:0043355	biolink:NamedThing	collagenous gastritis	A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.	mondoexuq1wtf	collagenous gastritis											NCIT:C122082|SCTID:711499009|UMLS:C4040043|GARD:0010961																		owl:Class
MONDO:0002352	biolink:NamedThing	larynx cancer	A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.	mondoexuq1wtf	cancer of larynx|malignant tumor of larynx|malignant larynx tumor|larynx cancer|malignant laryngeal tumor|malignant tumor of the larynx|malignant larynx neoplasm|malignant neoplasm of larynx|malignant neoplasm of the larynx|malignant laryngeal neoplasm											ICD10:C32.9|ICD9:161|SCTID:363429002|ICD9:161.8|EFO:1000354|ICD10:C32|UMLS:C0007107|NCIT:C7484|ICD9:161.9|DOID:2596																		owl:Class
MONDO:0020659	biolink:NamedThing	upper tract urothelial carcinoma		mondoexuq1wtf	transitional cell carcinoma of the pelvis and ureter|transitional cell carcinoma of the upper urinary tract|UTUC											ONCOTREE:UTUC|Orphanet:598216																		owl:Class
MONDO:0020654	biolink:NamedThing	renal pelvis/ureter urothelial carcinoma	A transitional cell carcinoma that arises from the renal pelvis and ureter.	mondoexuq1wtf	transitional cell carcinoma of renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|transitional cell cancer of the renal pelvis and ureter|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter transitional cell cancer|renal pelvis and ureter TCC|TCC of the renal pelvis and ureter|TCC of renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma											NCIT:C7716																		owl:Class
MONDO:0030059	biolink:NamedThing	developmental and epileptic encephalopathy, 87		mondoexuq1wtf	DEE87|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87|EIEE87|epileptic encephalopathy, early infantile, 87											OMIM:618916																		owl:Class
MONDO:0016538	biolink:NamedThing	hypotonia-cystinuria syndrome type 1		mondoexuq1wtf	hypotonia-cystinuria type 1 syndrome											UMLS:CN226952|ICD10:E72.0|Orphanet:238517																		owl:Class
MONDO:0049222	biolink:NamedThing	intellectual disability, X-linked 107		mondoexuq1wtf	intellectual disability, X-linked 107|mental retardation, X-linked 107|MRX107											OMIM:301013																		owl:Class
MONDO:0020741	biolink:NamedThing	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant		mondoexuq1wtf	AASA dehydrogenase deficiency|pyridoxine dependency with seizures|EPD|Epd|epilepsy, pyridoxine-dependent|pyridoxine-dependent epilepsy											OMIM:266100																		owl:Class
MONDO:0019660	biolink:NamedThing	Pfeiffer syndrome type 2	Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.	mondoexuq1wtf												ICD10:Q87.0|UMLS:CN206534|Orphanet:93259																		owl:Class
MONDO:0007043	biolink:NamedThing	Pfeiffer syndrome	Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.	mondoexuq1wtf	acrocephalosyndactyly, type 5|acrocephalosyndactyly type V|Pfeiffer syndrome|ACS 5|type V Acrocephalosyndactyly|acrocephalosyndactyly type 5|craniofacial-skeletal-Dermatologic dysplasia|Pfeiffer type acrocephalosyndactyly|ACS5|acrocephalosyndactylia type V|Noack syndrome											SCTID:70410008|NCIT:C99100|DOID:14705|UMLS:C0220658|GARD:0007380|OMIM:101600|Orphanet:710|ICD10:Q87.0														https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome				owl:Class
MONDO:0008410	biolink:NamedThing	Scheuermann disease	A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.	mondoexuq1wtf	Sherman's disease|familial spinal osteochondrosis|juvenile osteochondrosis of spine|familial Scheuermann disease|Scheuermann disease|Calve's disease|juvenile osteochondrosis of Scheurermann|Scheuermann's kyphosis|spinal Osteochondrosis|Scheuermann's disease|Scheuermann juvenile kyphosis|juvenile kyphosis|familial Scheuermann juvenile kyphosis|Scheuermann kyphosis|juvenile osteochondritis of the spine											Orphanet:3135|ICD10:M42.00|NCIT:C34999|GARD:0007610|OMIM:181440|UMLS:C0036310|COHD:433565|ICD9:732.0|DOID:13300|ICD10:M42.0|SCTID:53406005|EFO:0008576																		owl:Class
MONDO:0021070	biolink:NamedThing	sublingual gland carcinoma	A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.	mondoexuq1wtf	carcinoma of sublingual gland|sublingual gland carcinoma|sublingual gland cancer|carcinoma of the sublingual gland											SCTID:254466003|UMLS:C0345611|NCIT:C8397																		owl:Class
MONDO:0015600	biolink:NamedThing	X-linked intellectual disability, Cilliers type	X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	mondoexuq1wtf	X-linked intellectual disability-microcephaly-testicular failure syndrome											Orphanet:163971|UMLS:CN226710|SCTID:719013004|ICD10:Q87.8																		owl:Class
MONDO:0032705	biolink:NamedThing	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination		mondoexuq1wtf	NEDMEHM|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION											OMIM:618367																		owl:Class
MONDO:0044640	biolink:NamedThing	charcot-marie-tooth disease type 2T		mondoexuq1wtf	CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|AR-CMT2T											UMLS:CN237675|Orphanet:495274																		owl:Class
MONDO:0011722	biolink:NamedThing	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome		mondoexuq1wtf	MOMES syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|Momes syndrome|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies											Orphanet:397973|MESH:C564660|ICD10:Q87.8|OMIM:606772|UMLS:C1847522																		owl:Class
MONDO:0022904	biolink:NamedThing	cryofibrinogenemia		mondoexuq1wtf	cryofibrinogenemia											GARD:0009908|ICD9:286.9|UMLS:C0272263|SCTID:10934005|MESH:C536218														https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia				owl:Class
MONDO:0100231	biolink:NamedThing	psoriatic arthritis, susceptibility to, 1	A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.	mondoexuq1wtf	psoriatic arthritis susceptibility caused by LTA|psoriatic arthritis, susceptibility to, 1							http://orcid.org/0000-0001-5208-3432				OMIM:607507																		owl:Class
MONDO:0004831	biolink:NamedThing	proliferative fasciitis	A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.	mondoexuq1wtf												SCTID:254737002|NCIT:C4728|UMLS:C0432528|DOID:9599																		owl:Class
MONDO:0016591	biolink:NamedThing	sporadic adult-onset ataxia of unknown etiology	Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	mondoexuq1wtf	SAOA|idiopathic late-onset cerebellar ataxia											SCTID:734023003|Orphanet:247234																		owl:Class
MONDO:0018846	biolink:NamedThing	penile agenesis	An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.	mondoexuq1wtf	Aphallus|penis agenesia|micropenis|Aphallia|penis agenesis|congenital absence of penis|agenesis of the penis											SCTID:59981001|NCIT:C99009|Orphanet:49|ICD10:Q55.5|GARD:0004272|MESH:C536649																		owl:Class
MONDO:0014971	biolink:NamedThing	amelogenesis imperfecta, hypomaturation type, IIa6		mondoexuq1wtf	amelogenesis imperfecta, hypomaturation type, IIa6|AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6											UMLS:C4310665|OMIM:617217																		owl:Class
MONDO:0018507	biolink:NamedThing	microcephaly-complex motor and sensory axonal neuropathy syndrome	Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.	mondoexuq1wtf												UMLS:CN237512|ICD10:G60.0|Orphanet:423894																		owl:Class
MONDO:0003288	biolink:NamedThing	bizarre leiomyoma	A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.	mondoexuq1wtf	Symplastic leiomyoma|bizarre leiomyoma|pleomorphic leiomyoma|atypical leiomyoma											NCIT:C4257|DOID:5127|ICDO:8893/0|UMLS:C0334478																		owl:Class
MONDO:0009954	biolink:NamedThing	Ramon syndrome		mondoexuq1wtf	cherubism-gingival fibromatosis-intellectual disability syndrome|gingival fibromatosis combined with cherubism|Ramon syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth											ICD10:Q87.8|Orphanet:3019|GARD:0007523|UMLS:C0796133|MESH:C535285|OMIM:266270														https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome				owl:Class
MONDO:0015596	biolink:NamedThing	non-herpetic acute limbic encephalitis	Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.	mondoexuq1wtf												ICD10:G04.8|Orphanet:163924|SCTID:764998005																		owl:Class
MONDO:0015083	biolink:NamedThing	nuclear oculomotor paralysis		mondoexuq1wtf						Editor note: see notes for supranuclear						Orphanet:100932																		owl:Class
MONDO:0013106	biolink:NamedThing	basal cell carcinoma, susceptibility to, 6		mondoexuq1wtf	BCC6|basal cell carcinoma, susceptibility to, 6											OMIM:613063|UMLS:C2751600																		owl:Class
MONDO:0014502	biolink:NamedThing	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.	mondoexuq1wtf	ISG15 deficiency, autosomal recessive|MSMD due to complete ISG15 deficiency|immunodeficiency 38, Mycobacteriosis, autosomal recessive|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15|immunodeficiency 38 with basal ganglia calcification|IMD38|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency					Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease						OMIM:616126|ICD10:D84.8|UMLS:C4015293|Orphanet:319563																		owl:Class
MONDO:0020631	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 2		mondoexuq1wtf	epileptic encephalopathy, infantile or early childhood, 2|IECEE2											UMLS:CN757794|DOID:0080471|OMIM:617829																		owl:Class
MONDO:0033371	biolink:NamedThing	developmental and epileptic encephalopathy, 62		mondoexuq1wtf	epileptic encephalopathy, early infantile, 62|EIEE62|DEE62											UMLS:CN244551|DOID:0080420|OMIM:617938																		owl:Class
MONDO:0021398	biolink:NamedThing	polyp of rectum	A polyp that involves the rectum.	mondoexuq1wtf	rectum polyp|polyp of the rectum|rectal polyp											NCIT:C3351|UMLS:C0034887|SCTID:39772007																		owl:Class
MONDO:0017925	biolink:NamedThing	T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	mondoexuq1wtf	T-cell immunodeficiency due to RHOH deficiency											UMLS:CN714013|ICD10:D84.8|Orphanet:324294																		owl:Class
MONDO:0000257	biolink:NamedThing	acute diarrhea	Acute form of diarrhea.	mondoexuq1wtf	diarrheal disease, acute|diarrhea, acute|diarrhea (disease), acute|acute diarrheal disease											UMLS:C0740441|DOID:0050140|SCTID:409966000																		owl:Class
MONDO:0002212	biolink:NamedThing	pneumonic tularemia	A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.	mondoexuq1wtf	bronchopneumonic tularemia|pulmonary tularemia|pneumonic tularaemia											ICD10:A21.2|DOID:2122|SCTID:45556008|UMLS:C0339946|ICD9:021.2																		owl:Class
MONDO:0017694	biolink:NamedThing	glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.	mondoexuq1wtf	glycogenosis type II, infantile onset|glycogenosis type 2, infantile onset|glycogen storage disease type 2, infantile onset|glycogen storage disease type II, infantile onset|GSD type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|GSD type II, infantile onset|GSD due to acid maltase deficiency, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|Pompe disease, infantile onset											SCTID:722302009|UMLS:C3888924|ICD10:E74.0|Orphanet:308552|UMLS:CN203590																		owl:Class
MONDO:0006745	biolink:NamedThing	endometrioid stromal sarcoma	A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.	mondoexuq1wtf	ess|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|endometrioid stromal sarcoma|undifferentiated endometrial sarcoma|stromal sarcoma of the corpus uteri|endometrial stromal sarcomas|sarcomas, endometrial stromal|stromal sarcomas, endometrial|endometrial stromal sarcoma|stromal sarcoma, endometrial											ICD10:C54.1|SCTID:699356008|UMLS:C2239246|Orphanet:213711|MESH:D018203|ICDO:8930/3|DOID:4226|MedDRA:10048397|NCIT:C8973|GARD:0006339|MedDRA:10057649|EFO:1000919|ONCOTREE:ESS|UMLS:C0206630														https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma				owl:Class
MONDO:0021495	biolink:NamedThing	benign neoplasm of sublingual gland	A benign neoplasm that involves the sublingual gland.	mondoexuq1wtf	benign neoplasm of the sublingual gland|benign sublingual gland neoplasm|benign tumor of sublingual gland|benign tumor of the sublingual gland|benign sublingual gland tumor|sublingual gland benign neoplasm											UMLS:C0347208|NCIT:C4601|SCTID:92413008																		owl:Class
MONDO:0023510	biolink:NamedThing	Jaffer-Beighton syndrome		mondoexuq1wtf	Jaffer Beighton syndrome|arachnodactyly, joint laxity, and spondylolisthesis											MESH:C537561|UMLS:C2931533|GARD:0003040														https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome				owl:Class
MONDO:0007245	biolink:NamedThing	neurofibromatosis type 6	Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	mondoexuq1wtf	multiple cafe-au-lait spots|familial cafeB4-au-lait spots|multiple cafe´-au-lait spots|neurofibromatosis type 6|familial cafe-au-lait spots|cafe-au-lait spots, multiple|familial café-au-lait spots|familial cafe´-au-lait spots|multiple café-au-lait spots|autosomal dominant café au lait spots|NF6|multiple café-au-lait syndrome|multiple cafe-au-lait syndrome|cafe au lait spots, multiple|multiple cafe´-au-lait syndrome											UMLS:C1861975|ICD10:L81.3|Orphanet:2678|MESH:C537421|OMIM:114030|GARD:0001050|UMLS:CN035858|GARD:0003967														https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots				owl:Class
MONDO:0012657	biolink:NamedThing	Mungan syndrome		mondoexuq1wtf	pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|MGS|MUNGAN syndrome|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities|visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities											OMIM:611376|GARD:0010687|MESH:C548078																		owl:Class
MONDO:0004419	biolink:NamedThing	lymphoma-like variant infiltrating bladder urothelial carcinoma		mondoexuq1wtf	infiltrating bladder urothelial carcinoma, lymphoma-like variant											UMLS:C1512739|DOID:7972|NCIT:C39822																		owl:Class
MONDO:0008049	biolink:NamedThing	myopathy, distal, infantile-onset		mondoexuq1wtf	myopathy, distal, infantile-onset											UMLS:C1834556|DOID:0070196|UMLS:C4011725|OMIM:160300																		owl:Class
MONDO:0019137	biolink:NamedThing	non-24-hour sleep-wake syndrome	Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.	mondoexuq1wtf	circadian rhythm sleep disorder, free running type|non-24|hypernychthemeral syndrome|non 24 hour sleep wake disorder|circadian rhythm sleep disorder, free-running type											SCTID:230496009|ICD10:G47.24|ICD10:G47.2|Orphanet:73267|GARD:0010949																		owl:Class
MONDO:0002576	biolink:NamedThing	embryonal extrahepatic bile duct rhabdomyosarcoma	An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.	mondoexuq1wtf	extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|embryonal rhabdomyosarcoma of the extrahepatic bile duct|embryonal extrahepatic bile duct rhabdomyosarcoma|embryonal rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct											DOID:3253|UMLS:C1333505|NCIT:C5847																		owl:Class
MONDO:0025085	biolink:NamedThing	hepatitis, viral, animal	Inflammation of the liver in animals due to viral infection.	mondoexuq1wtf												MESH:D006524																		owl:Class
MONDO:0007660	biolink:NamedThing	familial ossifying fibroma	An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	intracortical fibrous dysplasia|hereditary ossifying fibroma (disease)|cemental dysplasia, periapical|multiple ossifying fibroma|Cementomas, familial multiple|GIGANTIFORM cementoma, familial|Jaffe-Campanacci syndrome											Orphanet:435329|MESH:C563017|ICD10:D16.4|GARD:0010887|UMLS:CN237560|OMIM:137575																		owl:Class
MONDO:0013454	biolink:NamedThing	Leber congenital amaurosis 11	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.	mondoexuq1wtf	IMPDH1 Leber congenital amaurosis|amaurosis congenita of Leber, type 11|LCA11|Leber congenital amaurosis caused by mutation in IMPDH1|Leber congenital amaurosis 11|Leber congenital amaurosis type 11											UMLS:C1840284|DOID:0110216|ICD10:H35.5|GARD:0010488|HGNC:6052|OMIM:613837|MESH:C564140														https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11				owl:Class
MONDO:0002450	biolink:NamedThing	prostatic adenoma	Focal benign glandular hyperplasia in the prostate gland.	mondoexuq1wtf	adenoma - prostate|prostate adenoma|benign adenoma of prostate|adenoma of prostate|adenoma of the prostate|prostate gland adenoma											DOID:2883|SCTID:21173002|UMLS:C0520477|NCIT:C4795|ICD9:600.20																		owl:Class
MONDO:0017792	biolink:NamedThing	7p22.1 microduplication syndrome	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	mondoexuq1wtf	trisomy 7p22.1|dup(7)(p22.1)											Orphanet:314034|ICD10:Q92.3|SCTID:764703002|UMLS:CN203742																		owl:Class
MONDO:0037829	biolink:NamedThing	purine metabolism disease	A disease that has its basis in the disruption of purine nucleobase metabolic process.	mondoexuq1wtf	purine nucleobase metabolic process disease|disorder of purine metabolism|disorder of purine nucleobase metabolic process											SCTID:32612005|UMLS:C0268104																		owl:Class
MONDO:0007107	biolink:NamedThing	anal sphincter myopathy, internal		mondoexuq1wtf	anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy											MESH:C566287|OMIM:105565|UMLS:C1862935																		owl:Class
MONDO:0013524	biolink:NamedThing	bleeding diathesis due to thromboxane synthesis deficiency		mondoexuq1wtf	BDPLT13|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|susceptibility to platelet-type bleeding disorder 13|bleeding disorder, platelet-type, 13, susceptibility to											Orphanet:220443|ICD10:D69.8|OMIM:614009																		owl:Class
MONDO:0004963	biolink:NamedThing	T-cell acute lymphoblastic leukemia	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)	mondoexuq1wtf	T-ALL|acute T cell leukemia|acute T-cell lymphoblastic leukemia|acute T cell lymphocytic leukemia|precursor T-lymphoblastic leukemia (T-cell ALL)|precursor T-lymphoblastic leukemia|acute T-cell leukemia|acute T cell lymphoblastic leukemia|T-cell acute lymphocytic leukemia|T-cell ALL|acute T-cell lymphocytic leukemia|T-cell type acute leukemia|T acute lymphoblastic leukemia|T-cell acute lymphoblastic leukemia											HGNC:5056|NCIT:C3183|EFO:0000209|ICDO:9837/3																		owl:Class
MONDO:0018171	biolink:NamedThing	malignant germ cell tumor of ovary	Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.	mondoexuq1wtf	ovarian germ cell cancer|malignant germ cell tumor of the ovary|malignant germ cell neoplasm of the ovary|malignant germ cell tumor of ovary|MOGCT|ovary malignant germ cell tumor|malignant germ cell neoplasm of ovary|malignant ovarian germ cell tumor|malignant ovarian germ cell neoplasm											SCTID:254869000|ICD10:C56|NCIT:C4514|DOID:2155|Orphanet:35807|UMLS:C0346180																		owl:Class
MONDO:0012838	biolink:NamedThing	inflammatory bowel disease 16	An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.	mondoexuq1wtf	IBD16|inflammatory bowel disease type 16|inflammatory bowel disease 16											UMLS:C2677093|OMIM:612259|DOID:0110896|MESH:C567380																		owl:Class
MONDO:0017823	biolink:NamedThing	somatomammotropinoma		mondoexuq1wtf	Somatoprolactinoma|GH and PRL cosecreting pituitary adenoma|Growth hormone and prolactin cosecreting pituitary adenoma|Somatolactotropinoma											ICD10:D35.2|UMLS:CN203793|Orphanet:314769																		owl:Class
MONDO:0022607	biolink:NamedThing	extraovarian Brenner tumor of the vagina	A Brenner tumor that involves the vagina.	mondoexuq1wtf	vagina Brenner tumor|extraovarian Brenner tumor of the vagina|Brenner tumor of the vagina											GARD:0010006														https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina				owl:Class
MONDO:0029141	biolink:NamedThing	Usher syndrome, type 4		mondoexuq1wtf	USH4|Usher syndrome, type IV											OMIM:618144																		owl:Class
MONDO:0017477	biolink:NamedThing	lower limb hypertrophy	Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.	mondoexuq1wtf												ICD10:Q74.2|Orphanet:295051																		owl:Class
MONDO:0017431	biolink:NamedThing	non-syndromic limb overgrowth		mondoexuq1wtf	limb overgrowth											Orphanet:294953																		owl:Class
MONDO:0018270	biolink:NamedThing	extraskeletal Ewing sarcoma	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.	mondoexuq1wtf	extraosseous Ewing tumor|extraskeletal Ewing tumor|EOE|extraskeletal Ewing's sarcoma|Extra-osseous Ewing's sarcoma|extraosseous Ewing's tumor|extraosseous Ewing sarcoma|extraskeletal Ewing sarcoma|extraosseous Ewing's sarcoma											Orphanet:370334|NCIT:C7135|UMLS:CN204849|ICD10:C49.9|UMLS:C0279980|DOID:4232																		owl:Class
MONDO:0021039	biolink:NamedThing	extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	mondoexuq1wtf	extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing's tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor											UMLS:C1333514|EFO:1000250|NCIT:C27293|DOID:4985																		owl:Class
MONDO:0019119	biolink:NamedThing	muscular channelopathy	A channelopathy that involves the muscle tissue.	mondoexuq1wtf	muscle tissue channelopathy|channelopathy of muscle tissue											Orphanet:71864|EFO:1001899																		owl:Class
MONDO:0019218	biolink:NamedThing	inborn disorder of bile acid synthesis	Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.	mondoexuq1wtf	disorder of bile acid synthesis|inborn errors of bile acid synthesis|rare inborn error of bile acid biosynthetic process|inborn bile acid biosynthetic process disorder|inborn error of bile acid biosynthetic process											Orphanet:79168|GTR:AN0923838|UMLS:CN231736|UMLS:CN544763																		owl:Class
MONDO:0009473	biolink:NamedThing	isotretinoin-like syndrome	Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	mondoexuq1wtf	ISOTRETINOIN embryopathy-like syndrome|microtia-aortic Arch syndrome|syndrome of microtia and aortic arch anomalies|Kawashima syndrome|Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|microtia-aortic arch syndrome											OMIM:243440|SCTID:722006004|GARD:0009675|ICD10:Q87.8|Orphanet:2306|MESH:C535542																		owl:Class
MONDO:0009712	biolink:NamedThing	congenital multicore myopathy with external ophthalmoplegia	An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.	mondoexuq1wtf	multicore myopathy with external ophthalmoplegia|minicore myopathy, antenatal onset, with arthrogryposis|multiminicore myopathy multicore myopathy with external ophthalmoplegia|multicore myopathy|minicore myopathy|multiminicore disease with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia											Orphanet:98905|UMLS:C1850674|OMIM:255320|ICD10:G71.2|NCIT:C150608|GARD:0010316																		owl:Class
MONDO:0013921	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 4	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene.	mondoexuq1wtf	Herpes simplex encephalitis, susceptibility to, type 4|herpes simplex encephalitis caused by mutation in TICAM1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6|TICAM1 herpes simplex encephalitis|herpes simplex encephalitis, susceptibility to, 4|IIAE6|encephalopathy, acute, infection-induced, susceptibility to, 6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6											OMIM:614850																		owl:Class
MONDO:0013621	biolink:NamedThing	LAMB2-related infantile-onset nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.	mondoexuq1wtf	nephrotic syndrome, type 5, with or without ocular abnormalities|NPHS5											ICD10:N04.8|OMIM:614199|UMLS:C3280113|Orphanet:306507																		owl:Class
MONDO:0016557	biolink:NamedThing	leukonychia totalis	Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.	mondoexuq1wtf	hereditary white nails|total leukonychia											GARD:0009759|SCTID:763792009|Orphanet:2387|MESH:C535889|ICD10:Q84.4																		owl:Class
MONDO:0003439	biolink:NamedThing	urinary bladder villous adenoma	An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.	mondoexuq1wtf	urinary bladder villous adenoma|villous adenoma of the urinary bladder|villous adenoma of urinary bladder|bladder villous adenoma											NCIT:C7414|DOID:5427|UMLS:C1336893																		owl:Class
MONDO:0013168	biolink:NamedThing	dilated cardiomyopathy 1DD	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.	mondoexuq1wtf	CMD1DD|RBM20 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Dd|cardiomyopathy, dilated, 1DD|dilated cardiomyopathy type 1DD|familial isolated dilated cardiomyopathy caused by mutation in RBM20											UMLS:C2750995|ICD10:I42.0|OMIM:613172|DOID:0110447|MESH:C567725																		owl:Class
MONDO:0007376	biolink:NamedThing	fleck corneal dystrophy	Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.	mondoexuq1wtf	corneal dystrophy, FLECK|FCD|Francois-Neetens speckled corneal dystrophy|Cfd|fleck corneal dystrophy|François-Neetens speckled corneal dystrophy|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, Francois-Neetens speckled or flecked											DOID:0060448|Orphanet:98970|UMLS:C1562113|ICD10:H18.5|ICD9:371.56|MESH:C563256|OMIM:121850|SCTID:417183007																		owl:Class
MONDO:0013817	biolink:NamedThing	preeclampsia/eclampsia 5	Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.	mondoexuq1wtf	PEE5|PREECLAMPSIA/eclampsia 5|CORIN preeclampsia|preeclampsia caused by mutation in Corin|Corin preeclampsia|Preeclampsia/eclampsia type 5|preeclampsia/eclampsia 5|preeclampsia caused by mutation in CORIN											OMIM:614595|UMLS:C3281288																		owl:Class
MONDO:0012213	biolink:NamedThing	hereditary spastic paraplegia 26	A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	mondoexuq1wtf	hereditary spastic paraplegia type 26|spastic paraplegia 26|SPG26|autosomal recessive spastic paraplegia type 26|GM2 synthase deficiency|autosomal recessive spastic paraplegia 26|spastic paraplegia 26, autosomal recessive											ICD10:G11.4|Orphanet:101006|OMIM:609195|UMLS:C1836632|GARD:0009587|UMLS:C4511959|SCTID:726607007|MESH:C536862|DOID:0110777																		owl:Class
MONDO:0012330	biolink:NamedThing	talo-patello-scaphoid osteolysis	Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.	mondoexuq1wtf	singh-Williams-McAlister syndrome|talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals											MESH:C536894|UMLS:C1864784|Orphanet:50809|OMIM:609655|GARD:0010061																		owl:Class
MONDO:0017920	biolink:NamedThing	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	mondoexuq1wtf	Pfeiffer-Kapferer syndrome|Pfeiffer Kapferer syndrome|short stature, intellectual disability and multiple dysmorphisms|short stature, mental retardation and multiple dysmorphisms|sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5											GARD:0004303|UMLS:C2931654|MESH:C537887|ICD10:Q87.8|Orphanet:3224|SCTID:721086004																		owl:Class
MONDO:0008852	biolink:NamedThing	congenital central hypoventilation syndrome	A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.	mondoexuq1wtf	ondine's curse (formerly)|ondine syndrome|central hypoventilation syndrome, congenital|congenital central alveolar hypoventilation syndrome|ondine curse, congenital|central congenital hypoventilation syndrome|ondine curse (formerly)|congenital ondine curse|congenital failure of autonomic control|primary alveolar hypoventilation|idiopathic congenital central alveolar hypoventilation|congenital central hypoventilation|ondine curse|ondine-Hirschsprung disease|CCHS|autonomic control, congenital failure of|Haddad syndrome|Cchs with Hirschsprung disease											OMIM:209880|Orphanet:661|NCIT:C98889|MedDRA:10066131|GARD:0008535|MedDRA:10007982|UMLS:C1275808|SCTID:230499002|ICD10:G47.3|DOID:0060731														https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome				owl:Class
MONDO:0006403	biolink:NamedThing	salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	mondoexuq1wtf	saliva-secreting gland carcinoma ex pleomorphic adenoma|pleomorphic adenoma carcinoma|salivary gland carcinoma ex pleomorphic adenoma					Editor note: DO class placed here as it denotes a salivary gland specific form						EFO:1000516|DOID:297|NCIT:C40410|UMLS:C1519172																		owl:Class
MONDO:0020664	biolink:NamedThing	spindle cell neoplasm	A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.	mondoexuq1wtf	spindle cell neoplasm|spindle cell tumor											EFO:0000705|NCIT:C27263																		owl:Class
MONDO:0012009	biolink:NamedThing	coronary heart disease, susceptibility to, 2		mondoexuq1wtf	coronary heart disease, susceptibility to, 2|coronary heart disease, susceptibility to, type 2|Chds2											OMIM:608316|UMLS:C1842260																		owl:Class
MONDO:0012519	biolink:NamedThing	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.	mondoexuq1wtf	Rsts deletion syndrome|Rubinstein-Taybi deletion syndrome|16p13.3 deletion syndrome|chromosome 16p13.3 deletion syndrome, proximal											GARD:0010754|UMLS:C1864648|ICD10:Q87.2|Orphanet:353281|OMIM:610543														https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome				owl:Class
MONDO:0018063	biolink:NamedThing	nodular non-suppurative panniculitis	Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.	mondoexuq1wtf	Weber-Christian panniculitis|Weber Christian disease|Weber-Christian disease|Weber - Christian disease|Relapsing febrile nodular panniculitis|nodular non-suppurative febrile panniculitis|nodular nonsuppurative panniculitis|panniculitis nodular nonsuppurative|idiopathic lobular panniculitis|Pfeiffer-Weber-Christian syndrome|idiopathic nodular panniculitis|WCD|Relapsing febrile nodular nonsuppurative panniculitis											GARD:0007879|ICD10:M35.6|DOID:1525|Orphanet:33577|MESH:D010201|UMLS:C0030328|SCTID:33760009|EFO:1000742|MedDRA:10047883																		owl:Class
MONDO:0018369	biolink:NamedThing	immature ovarian teratoma	A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.	mondoexuq1wtf	ovarian germ cell immature teratoma|ovary malignant teratoma|immature teratoma of ovary|malignant germ cell teratoma of ovary|immature ovarian teratoma|ovarian immature germ cell teratoma|malignant teratoma of ovary|ovarian immature teratoma|immature teratoma|malignant ovarian teratoma|immature teratoma of the ovary|malignant teratoma of the ovary|immature germ cell teratoma of ovary|malignant germ cell teratoma of the ovary|immature germ cell teratoma of the ovary|ovarian malignant teratoma|malignant ovarian germ cell teratoma											Orphanet:398987|NCIT:C8111|SCTID:254871000|ICD10:C56|DOID:6331|ONCOTREE:OIMT|UMLS:C0346182|UMLS:CN205036																		owl:Class
MONDO:0006994	biolink:NamedThing	tarsal tunnel syndrome	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.	mondoexuq1wtf	neuropathy of the posterior tibial nerve and its branches|posterior tibial nerve neuralgia											MedDRA:10043121|ICD9:355.5|DOID:12526|SCTID:47374004|MESH:D013641|COHD:192885|EFO:1001208|ICD10:G57.5|GARD:0007733|UMLS:C0039319|NCIT:C85183|ICD10:G57.50														https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome				owl:Class
MONDO:0006997	biolink:NamedThing	tibial neuropathy	Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)	mondoexuq1wtf	tibial neuropathy (disorder) [ambiguous]|Posterior tibial neuropathy											DOID:1187|SCTID:399076001|UMLS:C0751932|EFO:1001213|MESH:D020429																		owl:Class
MONDO:0044320	biolink:NamedThing	retinitis pigmentosa 79		mondoexuq1wtf	RP79|retinitis pigmentosa 79											OMIM:617460|UMLS:C4479526																		owl:Class
MONDO:0001633	biolink:NamedThing	central retinal artery occlusion	Blockage of the central retinal artery.	mondoexuq1wtf	central retinal arterial occlusion											COHD:437540|NCIT:C34456|UMLS:C0007688|ICD10:H34.1|SCTID:38742007|DOID:13098|ICD9:362.31																		owl:Class
MONDO:0006948	biolink:NamedThing	retinal artery occlusion	An occlusion of the retinal artery.	mondoexuq1wtf												UMLS:C0035302|EFO:1001154|NCIT:C34978|MedDRA:10038827|DOID:8483|SCTID:232035005|MESH:D015356																		owl:Class
MONDO:0001647	biolink:NamedThing	benign renovascular hypertension		mondoexuq1wtf												DOID:13145|ICD9:405.11																		owl:Class
MONDO:0002062	biolink:NamedThing	breast myofibroblastoma	A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.	mondoexuq1wtf	breast myofibroblastoma											DOID:1629|NCIT:C40397|UMLS:C1511320																		owl:Class
MONDO:0007403	biolink:NamedThing	inherited Creutzfeldt-Jakob disease	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	mondoexuq1wtf	Creutzfeldt-Jakob disease, sporadic|inherited CJD|Creutzfeldt-Jakob disease, Heidenhain variant|hereditary Creutzfeldt Jacob disease|Creutzfeldt-Jakob disease, familial|Creutzfeldt-Jakob disease, variant|CJD|Creutzfeldt-Jakob disease											Orphanet:282166|ICD10:A81.0|OMIM:123400|UMLS:CN202816|SCTID:715807002																		owl:Class
MONDO:0017538	biolink:NamedThing	Preaxial polydactyly of toes, bilateral		mondoexuq1wtf	bifid halluces, bilateral|bifid great toes, bilateral|bifid hallux, bilateral											Orphanet:295177|ICD10:Q69.2																		owl:Class
MONDO:0002764	biolink:NamedThing	urethra squamous cell carcinoma	A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.	mondoexuq1wtf	urethra epidermoid carcinoma|urethral squamous cell carcinoma|epidermoid carcinoma of the urethra|urethral squamous cell cancer|USCC|epidermoid carcinoma of urethra|squamous cell carcinoma of the urethra|squamous cell carcinoma of urethra|urethra squamous cell carcinoma|urethral epidermoid carcinoma											DOID:3750|UMLS:C1336890|NCIT:C6165|ONCOTREE:USCC																		owl:Class
MONDO:0025389	biolink:NamedThing	brucellosis, bovine	A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.	mondoexuq1wtf	bang disease|Bangs disease|bovine Brucelloses|Brucelloses, bovine|disease, bang's|bang's disease|disease, bang|bovine brucellosis											MESH:D002007																		owl:Class
MONDO:0009589	biolink:NamedThing	mesomelic dwarfism-cleft palate-camptodactyly syndrome	Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	mondoexuq1wtf	mesomelic dysplasia, Kozlowski-Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dysplasia, Reardon type|mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing											Orphanet:2631|SCTID:715471007|GARD:0003552|ICD10:Q78.8|MESH:C565404|OMIM:249710														https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly				owl:Class
MONDO:0003690	biolink:NamedThing	adult anaplastic ependymoma	An anaplastic ependymoma occurring in adults.	mondoexuq1wtf	anaplastic ependymoma of adults|malignant adult ependymoma|adult anaplastic ependymoma|adult malignant ependymoma|anaplastic ependymoma											DOID:5890|NCIT:C8269|UMLS:C0280787																		owl:Class
MONDO:0016700	biolink:NamedThing	anaplastic ependymoma	Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	mondoexuq1wtf	undifferentiated ependymal neoplasm|anaplastic ependymal tumor|ependymoma, anaplastic, malignant|undifferentiated ependymoma|WHO grade III ependymal neoplasm|undifferentiated ependymal tumor|anaplastic ependymoma|malignant ependymoma|anaplastic ependymal neoplasm|WHO grade III ependymal tumor|high-grade ependymoma											Orphanet:251646|NCIT:C4049|UMLS:C0280788|ONCOTREE:APE|GARD:0010634|MedDRA:10014968|ICD10:C71.9|ICDO:9392/3														https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma				owl:Class
MONDO:0012886	biolink:NamedThing	inflammatory bowel disease 22	An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.	mondoexuq1wtf	inflammatory bowel disease type 22|inflammatory bowel disease 22|IBD22											MESH:C567327|UMLS:C2676485|OMIM:612380|DOID:0110905																		owl:Class
MONDO:0008857	biolink:NamedThing	Beemer-Ertbruggen syndrome	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	mondoexuq1wtf	lethal hydrocephalus-cardiac malformation-dense bones syndrome|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|hydrocephalus, Cardiac malformation, dense bones, etc.|hydrocephalus, cardiac malformation, dense bones, etc|Beemer Ertbruggen syndrome|Beemer lethal malformation syndrome											ICD10:Q87.8|UMLS:C1859526|Orphanet:1237|MESH:C537668|OMIM:209970|GARD:0000846|SCTID:717859007														https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome				owl:Class
MONDO:0003825	biolink:NamedThing	kidney oncocytoma	A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.	mondoexuq1wtf	kidney oncocytic neoplasm|ROCY|oncocytoma kidney|renal oncocytoma|renal epithelial oncocytic tumor|kidney oncocytoma|oncocytoma renal|oncocytoma of the kidney|oncocytoma of kidney|renal epithelial oncocytic neoplasm											EFO:1000315|UMLS:C0346255|DOID:6245|NCIT:C4526|ONCOTREE:ROCY|GARD:0008477|MESH:C537750|SCTID:254922006														https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma				owl:Class
MONDO:0018536	biolink:NamedThing	adenocarcinoma of gallbladder and extrahepatic biliary tract	Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	mondoexuq1wtf	adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract											UMLS:CN237537|ICD10:C24.0|ICD10:C24.8|ICD10:C23|Orphanet:424991|ICD10:C28.9|SCTID:765741003|ICD10:C24.1																		owl:Class
MONDO:0003322	biolink:NamedThing	epithelial predominant Wilms' tumor	Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.	mondoexuq1wtf	epithelial predominant renal adenosarcoma|epithelial predominant Wilms tumor|epithelial predominant kidney Wilms tumor|epithelial predominant kidney adenosarcoma|epithelial predominant renal Wilms tumor|epithelial predominant renal Wilm's tumor|epithelial predominant nephroblastoma|epithelial predominant renal Wilms' tumor											NCIT:C9146|DOID:5189|UMLS:C0279608																		owl:Class
MONDO:0018714	biolink:NamedThing	primary intralymphatic angioendothelioma	An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.	mondoexuq1wtf	papillary Endovascular angioendothelioma|malignant endothelial papillary angioendothelioma|Dabska tumor|papillary intralymphatic angioendothelioma|pila											ICDO:9135/1|ICD10:D18.0|UMLS:CN242194|NCIT:C7526|Orphanet:458768																		owl:Class
MONDO:0001257	biolink:NamedThing	retinal microaneurysm		mondoexuq1wtf						Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265						ICD9:362.14|DOID:11295|SCTID:34037000|COHD:432890|UMLS:C0154834																		owl:Class
MONDO:0023200	biolink:NamedThing	Fryns Fabry Remans syndrome		mondoexuq1wtf												GARD:0002407														https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome				owl:Class
MONDO:0002870	biolink:NamedThing	tricuspid valve insufficiency	The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.	mondoexuq1wtf	tricuspid insufficiency|insufficiency, tricuspid|tricuspid valve regurgitation|tricuspid regurgitation|tricuspid incompetence											UMLS:C0040961|NCIT:C50842|MESH:D014262|DOID:4080|SCTID:111287006																		owl:Class
MONDO:0016981	biolink:NamedThing	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		mondoexuq1wtf	infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome											Orphanet:263410|UMLS:CN202284																		owl:Class
MONDO:0017578	biolink:NamedThing	disorder of thiamine metabolism and transport		mondoexuq1wtf												UMLS:CN227150|Orphanet:298644																		owl:Class
MONDO:0012571	biolink:NamedThing	primary ciliary dyskinesia 6	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.	mondoexuq1wtf	primary ciliary dyskinesia caused by mutation in NME8|ciliary dyskinesia, primary, 6|primary ciliary dyskinesia type 6|NME8 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 6|CILD6											UMLS:C1970506|OMIM:610852|DOID:0110606|ICD10:Q34.8|MESH:C567057																		owl:Class
MONDO:0007210	biolink:NamedThing	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay		mondoexuq1wtf	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay											UMLS:C1862171|MESH:C566206|OMIM:112370																		owl:Class
MONDO:0012384	biolink:NamedThing	panic disorder 3		mondoexuq1wtf	panic disorder 3|Pand3|panic disorder susceptibility locus, chromosome 4Q-related|panic disorder type 3											UMLS:C1864946|OMIM:609985																		owl:Class
MONDO:0016707	biolink:NamedThing	astroblastoma	Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.	mondoexuq1wtf	astroblastoma (morphologic abnormality)|astroblastoma|AstB|cerebral astroblastoma											ICD10:C71.9|ICDO:9430/3|NCIT:C4324|UMLS:C0334587|GARD:0010635|Orphanet:251679|DOID:7305|ONCOTREE:ASTB														https://rarediseases.info.nih.gov/diseases/10635/astroblastoma				owl:Class
MONDO:0016704	biolink:NamedThing	glial tumor of neuroepithelial tissue with unknown origin		mondoexuq1wtf												Orphanet:251668|UMLS:CN201948																		owl:Class
MONDO:0019562	biolink:NamedThing	localized scleroderma	Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.	mondoexuq1wtf	Scleroderma, localized|localised morphoea|localized scleroderma (disorder) [ambiguous]|circumscribed scleroderma|localized morphea|localized scleroderma|localized fibrosing scleroderma|Scleroderma, circumscribed or localized|morphea											MedDRA:10039712|SCTID:201048007|MESH:D012594|NCIT:C72069|ICD10:L94.0|DOID:8472|Orphanet:90289|COHD:441928|UMLS:C0036420|ICD9:701.0|GARD:0007058																		owl:Class
MONDO:0010052	biolink:NamedThing	spermatogenic failure 4	Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.	mondoexuq1wtf	spermatogenesis arrest|azoospermia with maturation arrest|SYCP3 azoospermia|spermatogenic failure type 4|spermatogenic failure 4|pregnancy loss, recurrent, 4|arrest of spermatogenesis|pregnancy loss, recurrent, susceptibility to, 4|azoospermia due to Perturbations of meiosis|azoospermia caused by mutation in SYCP3|SPGF4											GARD:0008530|MESH:C536875|OMIM:270960|DOID:0070176																		owl:Class
MONDO:0044319	biolink:NamedThing	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).	mondoexuq1wtf	IDDFSDA|intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies											UMLS:C4479520|Orphanet:505237|OMIM:617452																		owl:Class
MONDO:0004695	biolink:NamedThing	liver lymphoma	A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.	mondoexuq1wtf	lymphoma of the liver|lymphoma of liver|primary hepatic lymphoma|hepatic lymphoma|liver lymphoma|primary liver lymphoma											NCIT:C4949|UMLS:C1112746|DOID:901																		owl:Class
MONDO:0000214	biolink:NamedThing	hypermanganesemia with dystonia		mondoexuq1wtf												SCTID:768553002|DC:0000727|DOID:0080535|OMIMPS:613280																		owl:Class
MONDO:0006530	biolink:NamedThing	cholesteatoma	A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.	mondoexuq1wtf	secondary acquired cholesteatoma (type)|cholesteatoma (disease)|primary acquired cholesteatoma (type)|congenital cholesteatoma (type)|cholesteatoma		cholesteatoma (disease)									EFO:1000675|HP:0009797|SCTID:363668000|MESH:D002781|DOID:869|UMLS:C0008373|ICD9:385.30|GARD:0010422|ICD10:H71.9|NCIT:C2944|ICD10:H71.90|COHD:372925																		owl:Class
MONDO:0010949	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B	Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	mondoexuq1wtf	Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|hereditary motor and sensory neuropathy 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|Charcot-Marie-Tooth neuropathy, type 2B|HMSN IIB|HMSN2B|Charcot-Marie-Tooth disease, neuronal, type 2B|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|Charcot-Marie-Tooth neuropathy type 2B|Charcot-Marie-Tooth disease, axonal, type 2B|peripheral sensory neuropathy, autosomal dominant (PSN)|CMT2B|hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Charcot Marie Tooth disease type 2B|RAB7A Charcot-Marie-Tooth disease type 2|CMT 2B|hereditary motor and sensory nueropathy IIB											UMLS:C1833219|Orphanet:99936|DOID:0110159|SCTID:717008005|OMIM:600882|MESH:C537989|ICD10:G60.0|GARD:0009192														https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b				owl:Class
MONDO:0006917	biolink:NamedThing	posterior cerebral artery infarction	Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).	mondoexuq1wtf												EFO:1001118|MESH:D020762|DOID:3821|UMLS:C0752132																		owl:Class
MONDO:0004922	biolink:NamedThing	developmental coordination disorder	A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.	mondoexuq1wtf	development coordination disorder|clumsy child syndrome|developmental dyspraxia											NCIT:C92561|DOID:9923|ICD10:F82|ICD9:315.4|COHD:440388|UMLS:C0520947|SCTID:27544004|MESH:D019957																		owl:Class
MONDO:0010716	biolink:NamedThing	X-linked lethal multiple pterygium syndrome	X-linked form of lethal multiple pterygium syndrome.	mondoexuq1wtf	pterygium syndrome multiple X-linked|multiple pterygium syndrome X-linked|pterygium syndrome, multiple, X-linked|multiple pterygium syndrome, X-linked|lethal multiple pterygium syndrome, X-linked											ICD10:Q79.8|GARD:0004573|MESH:C564072|UMLS:C1839440|SCTID:763462004|Orphanet:79447|OMIM:312150														https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked				owl:Class
MONDO:0013089	biolink:NamedThing	schizophrenia 13	A schizophrenia that has material basis in a mutation on chromosome 15q13.	mondoexuq1wtf	SCZD13|schizophrenia, Neurophysiologic defect 1N|schizophrenia 13|schizophrenia susceptibility locus, chromosome 15Q13-q14-related											OMIM:613025|UMLS:C2751663|DOID:0070089																		owl:Class
MONDO:0022236	biolink:NamedThing	colpocephaly	Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.	mondoexuq1wtf											MONDO:0022808	GARD:0010008|MESH:C535973|SCTID:253160006														https://rarediseases.info.nih.gov/diseases/10008/colpocephaly				owl:Class
MONDO:0011488	biolink:NamedThing	microcephaly 3, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.	mondoexuq1wtf	autosomal recessive primary microcephaly caused by mutation in CDK5RAP2|MCPH3|CDK5RAP2 autosomal recessive primary microcephaly|microcephaly 3, primary, autosomal recessive											MESH:C565746|OMIM:604804|UMLS:C1858108|DOID:0070286																		owl:Class
MONDO:0019427	biolink:NamedThing	X-linked neurodegenerative syndrome, Bertini type	X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	mondoexuq1wtf												UMLS:CN206185|Orphanet:85334|SCTID:718849008|ICD10:G31.8																		owl:Class
MONDO:0016455	biolink:NamedThing	virus-associated trichodysplasia spinulosa	Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.	mondoexuq1wtf	pilomatrix dysplasia|trichodysplasia spinulosa|TS|VATS|Cyclosporine-induced folliculodystrophy											Orphanet:228379|UMLS:C3267126																		owl:Class
MONDO:0015828	biolink:NamedThing	uterovaginal malformation		mondoexuq1wtf												Orphanet:180062																		owl:Class
MONDO:0000519	biolink:NamedThing	corpus callosum oligodendroglioma	A oligodendroglioma that involves the corpus callosum.	mondoexuq1wtf	oligodendroglioma of corpus callosum|corpus callosum oligodendroglioma											DOID:0050901																		owl:Class
MONDO:0022410	biolink:NamedThing	retinal ciliopathy		mondoexuq1wtf												Orphanet:156165																		owl:Class
MONDO:0004276	biolink:NamedThing	ceruminoma	A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.	mondoexuq1wtf	ceruminous adenoma|adenoma, ceruminous gland, benign|ceruminous adenoma of the external auditory canal|ceruminous adenoma of external auditory canal|ceruminous adenoma (morphologic abnormality)|external auditory canal ceruminous adenoma											NCIT:C6088|SCTID:403945001|ICDO:8420/0|UMLS:C0334352|UMLS:C1333488|DOID:7549																		owl:Class
MONDO:0002804	biolink:NamedThing	apocrine adenoma	A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.	mondoexuq1wtf	tubular apocrine adenoma											SCTID:307596009|ICDO:8401/0|DOID:3895|NCIT:C4168|UMLS:C0334345																		owl:Class
MONDO:0014831	biolink:NamedThing	progeroid and marfanoid aspect-lipodystrophy syndrome		mondoexuq1wtf	Marfan lipodystrophy syndrome|Marfan-progeroid-lipodystrophy syndrome|MFLS|Marfanoid-progeroid syndrome											OMIM:616914|Orphanet:300382|ICD10:E88.1|UMLS:C4310796																		owl:Class
MONDO:0018808	biolink:NamedThing	Caroli syndrome		mondoexuq1wtf												UMLS:CN776859|Orphanet:480520																		owl:Class
MONDO:0009016	biolink:NamedThing	band keratopathy	The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.	mondoexuq1wtf	band-shaped keratopathy|corneal dystrophy, band-SHAPED|band keratopathy											SCTID:35055000|OMIM:217500|NCIT:C118765|ICD9:371.43|DOID:11164|ICD10:H18.42|UMLS:C0155120|COHD:436695|MESH:C562399																		owl:Class
MONDO:0021834	biolink:NamedThing	Akaba Hayasaka syndrome	A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.	mondoexuq1wtf	frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia											MESH:C535609|UMLS:C2930948|GARD:0000577														https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome				owl:Class
MONDO:0044768	biolink:NamedThing	vagus nerve paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.	mondoexuq1wtf	paraganglioma of the vagal body|vagal paraganglioma|paraganglioma of the vagus nerve|paraganglioma of vagus nerve|paraganglioma of vagal body|vagus nerve paraganglioma|vagal body paraganglioma											NCIT:C8427|SCTID:253030004|EFO:1000621|UMLS:CN036786|GARD:0008620																		owl:Class
MONDO:0043085	biolink:NamedThing	chromosome 1, uniparental disomy 1q12 q21		mondoexuq1wtf	uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21											UMLS:CN035970|GARD:0001878|MESH:C538085																		owl:Class
MONDO:0019854	biolink:NamedThing	thyroid ectopia	Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	mondoexuq1wtf												ICD10:E03.1|Orphanet:95712																		owl:Class
MONDO:0007629	biolink:NamedThing	fragile site 10Q23		mondoexuq1wtf	fragile site 10Q23|fragile site type 10Q23											UMLS:C1850987|OMIM:136540																		owl:Class
MONDO:0022771	biolink:NamedThing	circumscribed disseminated keratosis Jadassohn lew type		mondoexuq1wtf												GARD:0001366														https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type				owl:Class
MONDO:0006721	biolink:NamedThing	de Quervain disease	Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.	mondoexuq1wtf	tenosynovitis, de Quervain's|radial styloid tenosynovitis											SCTID:21794005|DOID:14107|MESH:D053684|COHD:73300|EFO:1000891|UMLS:C0149870|ICD10:M65.4|ICD9:727.04																		owl:Class
MONDO:0006160	biolink:NamedThing	colorectal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.	mondoexuq1wtf	colorectal hamartoma|large intestinal hamartoma|colorectum hamartoma (disease)											EFO:1000193|UMLS:C3272801|NCIT:C96474																		owl:Class
MONDO:0018192	biolink:NamedThing	paratesticular adenocarcinoma		mondoexuq1wtf	adenocarcinoma of the paratestis|adenocarcinoma of paratestis											ICD10:C63.0|ICD10:C63.1|ICD10:C63.7|ICD10:C63.2|ICD10:C63.8|Orphanet:363478																		owl:Class
MONDO:0005739	biolink:NamedThing	echinostomiasis	Infection by flukes of the genus Echinostoma.	mondoexuq1wtf	Echinostomatoidea disease or disorder|infection by Echinochasmus|Echinostomatoidea infectious disease|Echinostomatoidea caused disease or disorder											ICD10:B66.8|MESH:D004451|UMLS:C0013514|EFO:0007246|DOID:1218|ICD9:121.8|SCTID:52918004																		owl:Class
MONDO:0018587	biolink:NamedThing	non-recovering obstetric brachial plexus lesion		mondoexuq1wtf	non-recovering OBPI|non-recovering OBPL|chronic obstetric brachial plexus palsy|chronic obstetric brachial plexus injury											UMLS:CN237616|ICD10:P14.3|Orphanet:439202																		owl:Class
MONDO:0003446	biolink:NamedThing	papillary hidradenoma	A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.	mondoexuq1wtf	hidradenoma papilliferum											DOID:5439|SCTID:307597000|UMLS:C0334348|ICDO:8405/0|NCIT:C4171																		owl:Class
MONDO:0006844	biolink:NamedThing	magnesium deficiency	A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)	mondoexuq1wtf												EFO:1001029|ICD10:E61.2|SCTID:238118002|MESH:D008275|MedDRA:10025433|UMLS:C0024473																		owl:Class
MONDO:0000290	biolink:NamedThing	primary amebic meningoencephalitis	A infectious disease involving the Naegleria fowleri.	mondoexuq1wtf	Naegleria fowleri infection|infections, Naegleria fowleri											MESH:C535275|UMLS:C0300934|SCTID:721816008|DOID:0050242|UMLS:C4303098|GARD:0009554																		owl:Class
MONDO:0003372	biolink:NamedThing	vulvar leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of mammalian vulva|mammalian vulva leiomyosarcoma											DOID:5286|EFO:1001975|UMLS:C2168304|NCIT:C40318																		owl:Class
MONDO:0020507	biolink:NamedThing	Cree leukoencephalopathy		mondoexuq1wtf												ICD10:E75.2|Orphanet:99854																		owl:Class
MONDO:0011380	biolink:NamedThing	leukoencephalopathy with vanishing white matter	A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.	mondoexuq1wtf	leukoencephalopathy with vanishing white matter|CACH|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with diffuse central nervous system hypomyelination|vanishing white matter leukodystrophy|VWM|childhood ataxia with central nervous system hypomyelination|CACH syndrome|leukoencephalopathy with vanishing WHITE matter|childhood ataxia with central nervous system hypomyelinization|CACH/VWM syndrome|Cree leukoencehalopathy|myelinosis centralis diffusa|ovarioleukodystrophy|childhood ataxia with central nervous system hypomyelination/vanishing white matter|vanishing white matter disease|vanishing White matter leukodystrophy|CACH/VWM|Cree leukoencephalopathy											SCTID:447351004|GARD:0000231|Orphanet:135|DOID:0060868|UMLS:C1858991|ICD10:E75.2|OMIM:603896|NCIT:C122664|UMLS:CN199219																		owl:Class
MONDO:0032728	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, type 2EE		mondoexuq1wtf	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE|CMT2EE|Charcot-Marie-Tooth Neuropathy, Type 2Ee											OMIM:618400|DOID:0111559																		owl:Class
MONDO:0016688	biolink:NamedThing	fibrillary astrocytoma	The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)	mondoexuq1wtf	fibrillary astrocytic tumors|fibrillary astrocytoma											UMLS:C0334582|MedDRA:10065889|ICD10:C71.9|NCIT:C4322|Orphanet:251601|DOID:6726|ICDO:9420/3																		owl:Class
MONDO:0100264	biolink:NamedThing	peroxisome biogenesis disorder due to PEX10 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.	mondoexuq1wtf	PEX10 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX10 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0023042	biolink:NamedThing	ectodermal dysplasia margarita type		mondoexuq1wtf												GARD:0002050														https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type				owl:Class
MONDO:0017340	biolink:NamedThing	juvenile nasopharyngeal angiofibroma	Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	mondoexuq1wtf	juvenile nasopharyngeal angiofibroma|nasopharyngeal angiofibroma|JNA|juvenile nasopharyngeal angiofibroma (disease)|nasopharyngeal juvenile angiofibroma		juvenile nasopharyngeal angiofibroma (disease)									Orphanet:289596|ICD10:D10.6|UMLS:C1367536|HP:0030429|UMLS:CN202999|NCIT:C27479|SCTID:716590006																		owl:Class
MONDO:0008014	biolink:NamedThing	nondisjunction		mondoexuq1wtf	mosaicism, chromosomal|mixoploidy, familial|nondisjunction											OMIM:158250|UMLS:C1834741																		owl:Class
MONDO:0100279	biolink:NamedThing	peroxisome biogenesis disorder due to PEX11B defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.	mondoexuq1wtf	PEX11B related peroxisome biogenesis disorder|peroxisome biogenesis disorder due to PEX11B defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0017109	biolink:NamedThing	isolated partial cerebellar vermis agenesis		mondoexuq1wtf												Orphanet:269209|ICD10:Q04.3																		owl:Class
MONDO:0017107	biolink:NamedThing	isolated cerebellar vermis agenesis		mondoexuq1wtf												Orphanet:269203|ICD10:Q04.3																		owl:Class
MONDO:0006837	biolink:NamedThing	low tension glaucoma	A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.	mondoexuq1wtf	tension glaucoma, normal|tension Glaucomas, normal|glaucoma, normal tension|normal tension Glaucomas|glaucoma, Low tension|low tension Glaucomas|Glaucomas, normal tension|normal tension glaucoma|tension Glaucomas, Low|Glaucomas, Low tension|tension glaucoma, Low											MedDRA:10024931|ICD9:365.12|MESH:D057066|ICD10:H40.12|DOID:13544|UMLS:C0152136|COHD:441561|SCTID:50485007|EFO:1001022																		owl:Class
MONDO:0017031	biolink:NamedThing	primary interstitial lung disease in childhood and adulthood		mondoexuq1wtf	primary ILD in childhood and adulthood											Orphanet:264762|UMLS:CN202342																		owl:Class
MONDO:0011525	biolink:NamedThing	Carney complex type 2		mondoexuq1wtf	CNC2|Carney complex, type 2|Carney Myxoma-endocrine Complex, type 2											OMIM:605244																		owl:Class
MONDO:0017124	biolink:NamedThing	noma	Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.	mondoexuq1wtf	gangrenous stomatitis|oro-facial gangrene|oro-facial noma|cancrum oris|oral gangrene|noma neonatorum											MedDRA:10029502|DOID:9672|COHD:141055|SCTID:18116006|GARD:0004001|EFO:1001063|ICD10:A69.0|Orphanet:2700|UMLS:C0028271|ICD9:528.1|MESH:D009625|NCIT:C34852														https://rarediseases.info.nih.gov/diseases/4001/noma				owl:Class
MONDO:0006258	biolink:NamedThing	juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	mondoexuq1wtf	retention polyp|juvenile polyp											NCIT:C3826|EFO:1000310|UMLS:C0221273																		owl:Class
MONDO:0032833	biolink:NamedThing	lower urinary tract obstruction, congenital		mondoexuq1wtf	LUTO|LOWER URINARY TRACT OBSTRUCTION, CONGENITAL											OMIM:618612																		owl:Class
MONDO:0015389	biolink:NamedThing	supernumerary nostril	Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.	mondoexuq1wtf	supernumerary naris|accessory nostril											SCTID:719163006|HP:0009934|Orphanet:141096|ICD10:Q30.8|UMLS:CN226671																		owl:Class
MONDO:0018058	biolink:NamedThing	tracheal agenesis	Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.	mondoexuq1wtf	congenital absence of trachea|tracheal absence|congenital tracheal agenesis											Orphanet:3346|MESH:C536975|ICD10:Q32.1|NCIT:C35376|UMLS:C1261567|GARD:0005233|SCTID:3987009														https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis				owl:Class
MONDO:0016680	biolink:NamedThing	high grade astrocytic tumor	An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).	mondoexuq1wtf	high-grade astrocytic neoplasm|high-grade astrocytoma|high-grade astrocytic tumor|high grade astrocytic tumor|high grade astrocytic neoplasm											UMLS:C3640999|Orphanet:251561|NCIT:C102897																		owl:Class
MONDO:0001479	biolink:NamedThing	cutaneous diphtheria	A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.	mondoexuq1wtf	cutaneous diphtheria											UMLS:C0012555|EFO:1000683|NCIT:C34544|DOID:12275|ICD10:A36.3|ICD9:032.85|SCTID:18901009																		owl:Class
MONDO:0012906	biolink:NamedThing	primary ciliary dyskinesia 9	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.	mondoexuq1wtf	primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9|primary ciliary dyskinesia type 9|primary ciliary dyskinesia caused by mutation in DNAI2|DNAI2 primary ciliary dyskinesia|CILD9|ciliary dyskinesia, primary, type 9|ciliary dyskinesia, primary, 9, with or without situs inversus											MESH:C567310|DOID:0110622|ICD10:Q34.8|UMLS:C2676235|OMIM:612444																		owl:Class
MONDO:0013268	biolink:NamedThing	frontonasal dysplasia with alopecia and genital anomaly	Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.	mondoexuq1wtf	ALX4-related FNDAG|FND2|craniofrontonasal dysplasia with alopecia and hypogonadism|frontonasal dysplasia type 2|frontonasal dysplasia 2|frontonasal dysplasia with alopecia and genital abnomality											OMIM:613451|ICD10:Q87.0|Orphanet:228390|UMLS:C3150703|GARD:0012641|SCTID:725029001														https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly				owl:Class
MONDO:0000513	biolink:NamedThing	bone ameloblastoma	A ameloblastoma that involves the bone tissue.	mondoexuq1wtf	bone tissue ameloblastoma|ameloblastoma of bone tissue											DOID:0050895																		owl:Class
MONDO:0011981	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 2		mondoexuq1wtf	autoimmune thyroid disease, susceptibility to, type 2|AITD2|autoimmune thyroid disease, susceptibility to, 2											OMIM:608174|UMLS:C1842445																		owl:Class
MONDO:0000162	biolink:NamedThing	autoimmune thyroid disease, susceptibility to		mondoexuq1wtf												DC:0000634																		owl:Class
MONDO:0017526	biolink:NamedThing	polydactyly of a triphalangeal thumb, bilateral		mondoexuq1wtf	preaxial polydactyly type 2, bilateral|bilateral PPD2											ICD10:Q69.1|Orphanet:295150|UMLS:CN203257																		owl:Class
MONDO:0013919	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 12		mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, 12|epilepsy, idiopathic generalized, susceptibility to, type 12|EIG12|susceptibility to idiopathic generalized epilepsy 12											DOID:0111313|OMIM:614847																		owl:Class
MONDO:0008828	biolink:NamedThing	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.	mondoexuq1wtf	camptodactyly-arthropathy-pericarditis syndrome|congenital familial hypertrophic synovitis|familial fibrosing serositis|PAC syndrome|pericarditis arthropathy camptodactyly syndrome|fibrosing serositis, familial|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|arthropathy camptodactyly syndrome|CACP syndrome|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|pericarditis-arthropathy-camptodactyly syndrome|Jacobs syndrome|hypertrophic synovitis, congenital familial|CACP|arthropathy-camptodactyly syndrome|Cap syndrome|camptodactyly arthropathy pericarditis syndrome											MESH:C537560|Orphanet:2848|OMIM:208250|EFO:0009028|GARD:0000306|DOID:0090127														https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome				owl:Class
MONDO:0017767	biolink:NamedThing	rheumatic fever	Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.	mondoexuq1wtf	acute rheumatic fever|ARF|RHF - rheumatic fever|inflammatory rheumatism											NCIT:C34984|UMLS:C0035436|ICD10:I00|MedDRA:10039054|ICD10:I01.0|EFO:1001160|SCTID:58718002|ICD9:390|DOID:1586|ICD9:390-392.99|ICD10:I01.8|ICD10:I01.1|ICD10:I00-I02|ICD10:I01.9|Orphanet:3099|GARD:0005699|MESH:D012213|ICD10:I01.2														https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever				owl:Class
MONDO:0017630	biolink:NamedThing	X-linked complicated spastic paraplegia type 1	An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.	mondoexuq1wtf	SPG1											GARD:0012525|UMLS:CN203524|Orphanet:306617																		owl:Class
MONDO:0011128	biolink:NamedThing	Sheldon-hall syndrome	Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.	mondoexuq1wtf	arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|Freeman Sheldon variant|arthrogryposis multiplex congenita distal type 2B|arthrogryposis multiplex congenita, distal, type 2B|Sheldon-Hall syndrome|Freeman Sheldon syndrome, variant|distal arthrogryposis type 2B|DA2B|arthrogryposis, distal, type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities|Freeman-Sheldon syndrome variant											DOID:0111599|Orphanet:1147|GARD:0009909|UMLS:C1834523|ICD10:Q68.8																		owl:Class
MONDO:0016438	biolink:NamedThing	linear focal dermal elastosis	Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.	mondoexuq1wtf	linear focal elastosis|Elastotic striae											Orphanet:228236																		owl:Class
MONDO:0016611	biolink:NamedThing	lipoblastoma	A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.	mondoexuq1wtf	embryonic lipoma|infantile lipoma|fetal lipoma											NCIT:C27483|SCTID:400102008|MESH:D062689|GARD:0012015|UMLS:C1260965|Orphanet:247762														https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma				owl:Class
MONDO:0021057	biolink:NamedThing	classic or attenuated familial adenomatous polyposis	An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.	mondoexuq1wtf	classic or attenuated FAP																													owl:Class
MONDO:0013766	biolink:NamedThing	familial cold autoinflammatory syndrome 3	PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	mondoexuq1wtf	familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, PLCG2-associated|familial cold autoinflammatory syndrome caused by mutation in PLCG2|PLCG2 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 3|PLCG2-associated antibody deficiency and immune dysregulation|plaid|familial cold autoinflammatory syndrome type 3|FCAS3|familial atypical cold urticaria|FACU											ICD10:L50.2|Orphanet:300359|UMLS:C3280914|OMIM:614468|DOID:0090064																		owl:Class
MONDO:0003540	biolink:NamedThing	acute T cell leukemia		mondoexuq1wtf	precursor T lymphoblastic leukemia											CSP:2004-1803|SCTID:277575008|CSP:2004-1600|ICD10:C91.5|DOID:5603|ICD10:C91.50																		owl:Class
MONDO:0019402	biolink:NamedThing	beta thalassemia	Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).	mondoexuq1wtf	Beta thalassemia intermedia|thalassemia major|thalassemia, Hispanic gamma-delta-beta|erythroblastic anemia|Thalassemias, beta-|Beta thalassemia minor											GARD:0000871|COHD:4278669|NCIT:C34375|MESH:D017086|SCTID:65959000|ICD9:282.49|ICD10:D56.1|DOID:12241|ICD9:282.44|Orphanet:848|MedDRA:10043391																		owl:Class
MONDO:0016248	biolink:NamedThing	familial ovarian cancer	An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary ovarian cancer|familial ovarian malignant tumor											ICD10:C56|UMLS:CN201036|Orphanet:213517																		owl:Class
MONDO:0008402	biolink:NamedThing	cleft palate-large ears-small head syndrome	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	mondoexuq1wtf	Say-Barber-Hobbs syndrome|SAY syndrome|Say Barber Hobbs syndrome|cleft palate, microcephaly, large ears, and short stature|cleft palate large ears small head											ICD10:Q87.8|Orphanet:2013|GARD:0000162|OMIM:181180|UMLS:C1867023|MESH:C536621|SCTID:763130006																		owl:Class
MONDO:0030978	biolink:NamedThing	endove syndrome, limb-only type		mondoexuq1wtf	ENDOVESL|Mesomelia of Lower Extremities With Hand and Foot Anomalies											OMIM:619217																		owl:Class
MONDO:0011392	biolink:NamedThing	autosomal recessive nonsyndromic deafness 20	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.	mondoexuq1wtf	autosomal recessive deafness 20|deafness, autosomal recessive 20|autosomal recessive nonsyndromic deafness type 20|DFNB20											ICD10:H90.3|UMLS:C1858840|DOID:0110478|MESH:C565828|OMIM:604060																		owl:Class
MONDO:0010654	biolink:NamedThing	Partington syndrome	A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	Partington X-linked mental retardation syndrome|Partington X-linked intellectual disability syndrome|X-linked Russell-Silver syndrome|Partington syndrome|PRTS|intellectual disability-dystonic movements-ataxia-seizures syndrome|intellectual disability, X-linked, syndromic 1|intellectual disability, X-linked 36|X-linked intellectual disability-dystonia-dysarthria syndrome|MRXS1|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures|mental retardation, X-linked, syndromic 1|Partington-Mulley syndrome|mental retardation, X-linked 36|mental retardation, X-linked, with dystonic movements, ataxia, and seizures											Orphanet:94083|DOID:14744|GARD:0004235|OMIM:309510																		owl:Class
MONDO:0011571	biolink:NamedThing	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1		mondoexuq1wtf	Dgi1/Dfna39 syndrome|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1|Dfna39/Dgi1 syndrome|deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|Dfna39/dentinogenesis imperfecta 1 syndrome											OMIM:605594|UMLS:C1854146|MESH:C565316																		owl:Class
MONDO:0009553	biolink:NamedThing	Plasmodium falciparum blood infection level		mondoexuq1wtf	Pfbi|Plasmodium falciparum blood infection level|Plasmodium falciparum parasitemia											OMIM:248310																		owl:Class
MONDO:0006559	biolink:NamedThing	hidradenitis suppurativa	A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.	mondoexuq1wtf	acne inversa|acne inversa, familial|hidradenitis suppurativa											UMLS:C0162836|Wikipedia:Hidradenitis_suppurativa|MESH:D017497|ICD10:L73.2|EFO:1000710|SCTID:59393003|COHD:4241223|GARD:0006658|DOID:2280																		owl:Class
MONDO:0012341	biolink:NamedThing	celiac disease, susceptibility to, 3	Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.	mondoexuq1wtf	celiac disease, susceptibility to, 3|gluten-sensitive enteropathy, susceptibility to, 3|CTLA4 celiac disease|CELIAC3|celiac disease caused by mutation in CTLA4|susceptibility to celiac disease 3|celiac disease, susceptibility to, type 3											OMIM:609755																		owl:Class
MONDO:0030007	biolink:NamedThing	combined oxidative phosphorylation deficiency 41		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41|combined oxidative phosphorylation deficiency 41|COXPD41											OMIM:618838																		owl:Class
MONDO:0007964	biolink:NamedThing	dysplastic nevus syndrome	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)	mondoexuq1wtf	Atypical Mole syndrome|B-K Mole syndrome|melanoma, cutaneous malignant, susceptibility to, 2|familial dysplastic nevi|CMM2|melanoma, cutaneous malignant, susceptibility to, type 2|susceptibility to cutaneous malignant melanoma 2											OMIM:155601|NCIT:C7584|MESH:D004416|DOID:10041|EFO:0004199																		owl:Class
MONDO:0010036	biolink:NamedThing	congenital secretory sodium diarrhea 3	Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.	mondoexuq1wtf	congenital secretory sodium diarrhea 3 syndromic|congenital secretory sodium diarrhea 3 with or without other congenital anomalies|secretory diarrhea caused by mutation in SPINT2|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|DIAR3|diarrhea 3, secretory sodium, congenital, syndromic|congenital secretory sodium diarrhea type 3|sodium diarrhea, congenital|SPINT2 secretory diarrhea											OMIM:270420|ICD10:P78.3|DOID:0060781																		owl:Class
MONDO:0045032	biolink:NamedThing	congenital secretory diarrhea		mondoexuq1wtf	congenital secretory diarrhea											UMLS:C0267661|ICD9:579.8|SCTID:25898005																		owl:Class
MONDO:0001458	biolink:NamedThing	ulnar nerve lesion	A peripheral nerve lesion that involves the ulnar nerve.	mondoexuq1wtf	peripheral nerve lesion of ulnar nerve|ulnar nerve peripheral nerve lesion|lesion of ulnar nerve					Editor note: todo DP for lesions						SCTID:367475009|ICD10:G56.2|UMLS:C1288279|COHD:374027|DOID:12168|ICD10:G56.20|ICD9:354.2																		owl:Class
MONDO:0008211	biolink:NamedThing	pseudoleprechaunism syndrome, Patterson type	Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	mondoexuq1wtf	Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome											ICD10:E34.8|UMLS:C1868546|GARD:0004259|OMIM:169170|Orphanet:2976|MESH:C536310																		owl:Class
MONDO:0019202	biolink:NamedThing	myxofibrosarcoma	A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.	mondoexuq1wtf	myxoid fibrous histiocytoma|fibromyxosarcoma|myxoid malignant fibrous histiocytoma|MFS|myxofibrosarcoma|myxoid MFH											ONCOTREE:MFS|MedDRA:10066948|ICDO:8811/3|DOID:0080534|SCTID:253042009|Orphanet:79105|NCIT:C6496|ICD10:C49.9																		owl:Class
MONDO:0009543	biolink:NamedThing	prominent glabella-microcephaly-hypogenitalism syndrome	Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	mondoexuq1wtf	MacDermot-Winter syndrome|prominent glabella microcephaly hypogenitalism|Mac Dermot Winter syndrome											ICD10:Q87.8|Orphanet:2083|OMIM:247990|MESH:C537714|UMLS:C0796024|GARD:0000144														https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome				owl:Class
MONDO:0008869	biolink:NamedThing	Seckel syndrome 1	Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.	mondoexuq1wtf	Seckel syndrome 1|Seckel-type dwarfism|SCKL1|nanocephalic dwarfism|Seckel syndrome type 1|Sckl|Seckel syndrome 3|Bird-headed dwarfism|ATR Seckel syndrome|microcephalic primordial dwarfism 1|microcephalic primordial dwarfism I|Seckel syndrome caused by mutation in ATR											UMLS:CN033164|DOID:0070007|UMLS:C1837590|OMIM:210600																		owl:Class
MONDO:0021662	biolink:NamedThing	bile duct neoplasm	A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.	mondoexuq1wtf	bile duct neoplasm (disease)|tumor of bile duct|neoplasm of bile duct|bile duct neoplasm|bile duct tumor|intrahepatic and extrahepatic bile duct tumor|intrahepatic and extrahepatic bile duct neoplasm											UMLS:C0005396|NCIT:C2898																		owl:Class
MONDO:0008365	biolink:NamedThing	recombinant 8 syndrome	Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.	mondoexuq1wtf	chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|San Luis Valley syndrome|Duplication 8q/deletion 8p|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome|Recombinant chromosome 8 syndrome|Rec(8) syndrome|San Luis Valley recombinant chromosome 8 syndrome											MESH:C535296|GARD:0009698|ICD10:Q99.8|SCTID:718189004|Orphanet:96167|OMIM:179613|UMLS:C0795822																		owl:Class
MONDO:0009980	biolink:NamedThing	retinal telangiectasia and hypogammaglobulinemia		mondoexuq1wtf	retinal telangiectasia associated with hypogammaglobulinemia|Frenkel Russe syndrome|retinal telangiectasia and hypogammaglobulinemia											MESH:C535638|GARD:0002383|UMLS:C2930961|OMIM:267900																		owl:Class
MONDO:0008568	biolink:NamedThing	thyroid hormone plasma membrane transport defect		mondoexuq1wtf	hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|defect|thyroid hormone resistance due to T4 plasma Membrane Transport defect|thyroid hormone plasma membrane transport defect											GARD:0008499|OMIM:188560|MESH:C536916|UMLS:C1861101														https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect				owl:Class
MONDO:0004301	biolink:NamedThing	fibrosarcomatous osteosarcoma	A conventional osteosarcoma characterized by the presence of spindle shaped cells.	mondoexuq1wtf	fibrosarcomatous osteogenic sarcoma|FIOS|fibrosarcomatous osteosarcoma|fibroblastic osteosarcoma|fibroblastic osteogenic sarcoma|fibroblastic osteosarcoma (morphologic abnormality)											NCIT:C4020|UMLS:C0279602|ONCOTREE:FIOS|ICDO:9182/3|DOID:7603																		owl:Class
MONDO:0044684	biolink:NamedThing	tuberculous meningitis		mondoexuq1wtf	TBM|tubercular meningitis											SCTID:58437007|Orphanet:499004																		owl:Class
MONDO:0001218	biolink:NamedThing	acute laryngopharyngitis	An upper respiratory tract disease which involves inflammation of both larynx and pharynx.	mondoexuq1wtf												UMLS:C0155817|ICD9:465.0|COHD:23798|ICD10:J06.0|DOID:11195|SCTID:55355000																		owl:Class
MONDO:0001954	biolink:NamedThing	thrombophlebitis migrans	A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.	mondoexuq1wtf												DOID:14392|ICD10:I82.1|COHD:439838|SCTID:31268005|ICD9:453.1|UMLS:C0152250																		owl:Class
MONDO:0001607	biolink:NamedThing	intrapelvic lymph node leukemic reticuloendotheliosis		mondoexuq1wtf	leukemic reticuloendotheliosis of intrapelvic lymph nodes|leukemic reticuloendotheliosis involving intrapelvic lymph nodes											DOID:12972|SCTID:93145002|ICD9:202.46|UMLS:C0153831																		owl:Class
MONDO:0020303	biolink:NamedThing	Angelman syndrome due to paternal uniparental disomy of chromosome 15		mondoexuq1wtf	UPD(15)pat|Angelman syndrome due to paternal uniparental disomy of chromosome type 15											Orphanet:98795|ICD10:Q93.5|UMLS:CN207117																		owl:Class
MONDO:0020179	biolink:NamedThing	palpebral nevus	A melanocytic nevus that involves the skin of eyelid.	mondoexuq1wtf	eyelid Nevus|skin of eyelid melanocytic nevus|Nevus of the eyelid|melanocytic nevus of skin of eyelid|Nevus of eyelid											Orphanet:98588|UMLS:C0239460|SCTID:231827008|NCIT:C3880																		owl:Class
MONDO:0007649	biolink:NamedThing	gastric juice peptides		mondoexuq1wtf	gastric juice peptides											OMIM:137220																		owl:Class
MONDO:0012144	biolink:NamedThing	Waardenburg syndrome type 2D	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.	mondoexuq1wtf	Waardenburg syndrome, type 2D|SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in SNAI2|Waardenburg syndrome type IID|WS2D											MESH:C563839|UMLS:C1837203|OMIM:608890|DOID:0110952																		owl:Class
MONDO:0007773	biolink:NamedThing	hyperproglucagonemia		mondoexuq1wtf	hyperproglucagonemia|glucagon, large molecular weight species of											OMIM:145270|UMLS:C1840388|MESH:C564159																		owl:Class
MONDO:0014592	biolink:NamedThing	microcephaly and chorioretinopathy 3	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.	mondoexuq1wtf	MCCRP3|TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy type 3|microcephaly and chorioretinopathy, autosomal recessive, type 3|microcephaly and chorioretinopathy, autosomal recessive, 3											UMLS:C4225362|DOID:0080107|OMIM:616335																		owl:Class
MONDO:0000181	biolink:NamedThing	microcephaly and chorioretinopathy		mondoexuq1wtf						Note that OMIM has two PS that appear to refer to the same thing						DC:0000676|OMIMPS:251270																		owl:Class
MONDO:0014559	biolink:NamedThing	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		mondoexuq1wtf	MRT48|intellectual disability, autosomal recessive 48|mental retardation, autosomal recessive type 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive type 48											OMIM:616269|Orphanet:457212|UMLS:C4225395																		owl:Class
MONDO:0019620	biolink:NamedThing	congenital esophageal diverticulum	Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.	mondoexuq1wtf	congenital esophageal pouch											SCTID:204667006|ICD10:Q39.6|Orphanet:91358|ICD9:750.4																		owl:Class
MONDO:0020685	biolink:NamedThing	infratentorial ependymal tumor	An ependymal tumor arising from the infratentorial region of the brain.	mondoexuq1wtf	infratentorial ependymal tumor											NCIT:C131612																		owl:Class
MONDO:0003532	biolink:NamedThing	breast papillary carcinoma	A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.	mondoexuq1wtf	breast solid papillary carcinoma|papillary carcinoma of the breast|solid papillary carcinoma of the breast|papillary breast carcinoma|Papillary breast cancer|breast papillary carcinoma|papillary carcinoma of breast											UMLS:C1336027|UMLS:C3812899|NCIT:C9134|DOID:5592																		owl:Class
MONDO:0000883	biolink:NamedThing	myeloid neoplasms associated with PDGFRB rearrangement	Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia.	mondoexuq1wtf	myeloid neoplasms with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement											UMLS:C2827361|DOID:0080166|ICDO:9966/3|NCIT:C84276|ONCOTREE:MLNPDGFRB																		owl:Class
MONDO:0000881	biolink:NamedThing	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity.	mondoexuq1wtf	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2|myeloid/lymphoid neoplasms with eosinophilia and Gene rearrangement											DOID:0080164|UMLS:C2827356|NCIT:C84270																		owl:Class
MONDO:0100404	biolink:NamedThing	acute myeloid leukemia, MLL gene rearrangement	Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)	mondoexuq1wtf	AML, Myeloid/Lymphoid Leukemia Gene Rearrangement|AML, Lysine Methyltransferase 2A Gene Rearrangement|AML, KMT2A Rearrangement|AML, Mixed Lineage Leukemia Gene Rearrangement|AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement|AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement|AML, MLL Rearrangement|AML, KMT2A Gene Rearrangement|AML, MLL gene rearrangement|AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement											NCIT:C174129																		owl:Class
MONDO:0005562	biolink:NamedThing	age-related hearing impairment	Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.	mondoexuq1wtf	ARHI					Editor note: check classification sensorineural vs conductive						EFO:0005782|DC:0000371																		owl:Class
MONDO:0025487	biolink:NamedThing	murine acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.	mondoexuq1wtf	MAIDS|murine acquired immune deficiency syndrome|murine AIDSs|murine AIDS|AIDS, murine|murine acquired immuno-deficiency syndrome|murine acquired immuno deficiency syndrome											MESH:D016183																		owl:Class
MONDO:0019204	biolink:NamedThing	respiratory bronchiolitis-interstitial lung disease syndrome	Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.	mondoexuq1wtf	RB-ILD											UMLS:CN205794|ICD10:J68.4|MedDRA:10066393|Orphanet:79127																		owl:Class
MONDO:0017944	biolink:NamedThing	invasive non-typhoidal salmonellosis	Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.	mondoexuq1wtf	invasive non-typhoidal salmonella disease|iNTS disease											ICD10:A02.9|Orphanet:324648|ICD10:A02.8|ICD10:A02.1|ICD10:A02.2|SCTID:763772002|ICD10:A02.0																		owl:Class
MONDO:0003766	biolink:NamedThing	thalamic cancer	A cancer involving a dorsal plus ventral thalamus.	mondoexuq1wtf	malignant thalamic tumors|malignant thalamic neoplasms|malignant dorsal plus ventral thalamus neoplasm|malignant neoplasm of dorsal plus ventral thalamus|malignant thalamus tumor|malignant thalamus neoplasm|malignant thalamus neoplasms|dorsal plus ventral thalamus cancer|tumor of thalamus|malignant tumor of the thalamus|malignant thalamic neoplasm|thalamic neoplasm|malignant neoplasm of thalamus|malignant thalamus tumors|cancer of dorsal plus ventral thalamus|malignant tumor of thalamus|malignant neoplasm of the thalamus|malignant thalamic tumor											DOID:6098|SCTID:188287005|NCIT:C4576|UMLS:C0346902																		owl:Class
MONDO:0002786	biolink:NamedThing	diencephalic cancer	A cancer involving a diencephalon.	mondoexuq1wtf	malignant diencephalic neoplasm|diencephalon cancer|malignant neoplasm of diencephalon|malignant diencephalon neoplasm|cancer of diencephalon|diencephalic neoplasm|tumor of diencephalon|malignant diencephalic tumor|malignant diencephalic neoplasms											UMLS:C1334576|NCIT:C5126|DOID:3843																		owl:Class
MONDO:0019884	biolink:NamedThing	distal trisomy 10q	Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.	mondoexuq1wtf	distal duplication 10q|telomeric duplication 10q|distal trisomy type 10q|trisomy 10qter											MESH:C538087|ICD10:Q92.3|Orphanet:96102|SCTID:718689000																		owl:Class
MONDO:0011652	biolink:NamedThing	Phelan-McDermid syndrome	Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	mondoexuq1wtf	22q13.3 deletion syndrome|monosomy type 22q13|telomeric 22Q13 monosomy syndrome|Phelan McDermid syndrome|PHMDS|22q13 deletion|Phelan-McDermid syndrome|monosomy 22q13|chromosome 22Q13.3 deletion syndrome|deletion 22q13.3 syndrome|PHELAN-McDermid syndrome											Orphanet:48652|MESH:C536801|GARD:0010130|ICD10:Q93.5|OMIM:606232|ICD9:758.39|UMLS:C1853490|SCTID:699310000|DOID:0080354																		owl:Class
MONDO:0007693	biolink:NamedThing	hypertrichosis cubiti-short stature syndrome	Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	mondoexuq1wtf	hypertrichosis cubiti|MacDermot-Patton-Williams syndrome|hairy elbows|hairy elbows syndrome											MESH:C535618|UMLS:C1841696|MedDRA:10068636|GARD:0000143|ICD10:Q84.2|Orphanet:2220|OMIM:139600																		owl:Class
MONDO:0019813	biolink:NamedThing	congenital tricuspid stenosis		mondoexuq1wtf												ICD10:Q22.4|SCTID:36233006|MedDRA:10010656|Orphanet:95459																		owl:Class
MONDO:0000066	biolink:NamedThing	mitochondrial complex deficiency		mondoexuq1wtf												DC:0000283																		owl:Class
MONDO:0003365	biolink:NamedThing	esophagus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the esophagus|leiomyosarcoma of esophagus|esophageal leiomyosarcoma|esophagus leiomyosarcoma											NCIT:C5334|UMLS:C1333454|DOID:5276																		owl:Class
MONDO:0007159	biolink:NamedThing	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	mondoexuq1wtf	arthrogryposis-like hand anomaly and sensorineural deafness|familial hand abnormality and sensori-neural deafness|distal arthrogryposis type 6|arthrogryposis, distal, type 6|arthrogryposis and sensorineural deafness|DA6											OMIM:108200|MESH:C535386|UMLS:C1862471|Orphanet:1144|ICD10:Q68.8|GARD:0000784|SCTID:720515009																		owl:Class
MONDO:0011570	biolink:NamedThing	Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.	mondoexuq1wtf	Charcot-Marie-Tooth disease neuronal type 2B2|autosomal recessive axonal CMT4C3|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|AR-CMT2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|Charcot-Marie-Tooth neuropathy, type 2B2|CMT 2B2|Arcmt2B|ARCMT2B|MED25 Charcot-Marie-Tooth disease type 2|Charcot Marie Tooth disease type 2B2|CMT2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot-Marie-Tooth disease, axonal, type 2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot-Marie-Tooth neuropathy type 2B2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2											OMIM:605589|Orphanet:101101|SCTID:719981005|UMLS:C1854150|ICD10:G60.0|MESH:C537991|GARD:0001249|DOID:0110179														https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2				owl:Class
MONDO:0008981	biolink:NamedThing	infantile choroidocerebral calcification syndrome	This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	mondoexuq1wtf	choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation|choroid plexus calcification with intellectual disability|choroid plexus calcification and intellectual disability|choroid plexus calcification and mental retardation											SCTID:724228005|UMLS:C1859092|OMIM:215480|GARD:0001313|MESH:C535357|Orphanet:1313|ICD10:G93.8																		owl:Class
MONDO:0001167	biolink:NamedThing	spastic diplegia	A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.	mondoexuq1wtf	Little's disease|infantile diplegic cerebral palsy|diplegic infantile cerebral palsy|Little disease|infantile spastic cerebral palsy|cerebral spastic infantile paralysis|cerebral palsy spastic diplegic										MONDO:0022698	GARD:0009637|NCIT:C34781|DOID:10965|ICD9:343.0|MESH:C537945|SCTID:281411007|UMLS:C0270804|ICD10:G80.1														https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy				owl:Class
MONDO:0043923	biolink:NamedThing	lichen planus, oral	A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.	mondoexuq1wtf	olp - oral lichen planus|oral lichen planus											NCIT:C7406|SCTID:235049008|MESH:D017676|UMLS:C0206139|EFO:1001415																		owl:Class
MONDO:0017744	biolink:NamedThing	disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis		mondoexuq1wtf												ICD10:E77.8|UMLS:CN227191|Orphanet:309463																		owl:Class
MONDO:0002848	biolink:NamedThing	skeletal muscle neoplasm	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.	mondoexuq1wtf	neoplasm of the skeletal muscle|skeletal muscle tissue neoplasm|skeletal muscle neoplasm|neoplasm of skeletal muscle tissue|tumor of the skeletal muscle|tumor of skeletal muscle tissue|tumor of skeletal muscle|skeletal muscle tissue tumor|skeletal muscle tissue neoplasm (disease)|skeletal muscle tumor|neoplasm of skeletal muscle											UMLS:C1335971|DOID:4044|ICD9:239.2|SCTID:699955004|NCIT:C6514																		owl:Class
MONDO:0007562	biolink:NamedThing	multiple epiphyseal dysplasia, Beighton type	Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.	mondoexuq1wtf	epiphyseal dysplasia, multiple, with myopia and conductive deafness|EDMMD|multiple epiphyseal dysplasia-myopia-deafness syndrome											Orphanet:166011|SCTID:719689005|DOID:0111348|MESH:C565046|OMIM:132450|ICD10:Q77.3																		owl:Class
MONDO:0016336	biolink:NamedThing	fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy		mondoexuq1wtf												Orphanet:217616|UMLS:CN226905																		owl:Class
MONDO:0008168	biolink:NamedThing	ovarian fibroma	A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.	mondoexuq1wtf	ovarian fibroma (disease)|ovarian fibroma|fibroma of the ovary|fibroma of ovary|ovarian fibromata		ovarian fibroma (disease)									NCIT:C3498|OMIM:166970|ICD10:D27|UMLS:C0149951|SCTID:254865006|Orphanet:314473|MESH:C562391|HP:0010618|MedDRA:10064257																		owl:Class
MONDO:0007590	biolink:NamedThing	hemifacial hypertrophy	Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.	mondoexuq1wtf	hemifacial hypertrophy|facial hemihypertrophy|hemifacial hyperplasia|facial asymmetry											OMIM:133900|ICD10:Q67.4|Orphanet:141145|UMLS:C1399354																		owl:Class
MONDO:0024813	biolink:NamedThing	pulmonary sulcus neoplasm	A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	mondoexuq1wtf	pulmonary sulcus tumor|pulmonary sulcus neoplasm											NCIT:C27710																		owl:Class
MONDO:0004852	biolink:NamedThing	gonococcal keratitis		mondoexuq1wtf												UMLS:C0153214|DOID:9697|SCTID:40149008|ICD9:098.43|ICD10:A54.33																		owl:Class
MONDO:0013130	biolink:NamedThing	isolated microphthalmia 4	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.	mondoexuq1wtf	microphthalmia, isolated type 4|microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6|GDF6 isolated microphthalmia|isolated microphthalmia type 4|MCOP4											OMIM:613094|DOID:0060836|UMLS:C2751307|ICD10:Q11.0|MESH:C567757																		owl:Class
MONDO:0006045	biolink:NamedThing	ovarian clear cell adenocarcinoma	A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.	mondoexuq1wtf	clear cell adenocarcinoma of the ovary|ovary clear cell adenocarcinoma|clear cell adenocarcinoma of ovary|ovarian clear cell adenocarcinoma											SCTID:763131005|ICD10:C56|EFO:1000042|UMLS:C1518693|UMLS:CN205034|NCIT:C40078|DOID:5304|Orphanet:398971																		owl:Class
MONDO:0000548	biolink:NamedThing	ovarian clear cell cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.	mondoexuq1wtf	malignant ovarian clear cell neoplasm|clear-cell ovarian carcinoma|malignant ovarian clear cell tumor|ovarian clear cell carcinoma											DOID:0050934|UMLS:C1518230|NCIT:C40077																		owl:Class
MONDO:0016854	biolink:NamedThing	49,XXXYY syndrome	49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	49, XXXYY syndrome|XXXYY syndrome											UMLS:CN202197|Orphanet:261534|GARD:0010922|ICD10:Q98.8														https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome				owl:Class
MONDO:0018333	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency, mild type		mondoexuq1wtf	glutaric aciduria type 2, mild type|MAD deficiency, mild type|MADD, mild type											ICD10:E71.3|UMLS:CN205005|Orphanet:394532																		owl:Class
MONDO:0009282	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency	A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.	mondoexuq1wtf	multiple acyl-CoA dehydrogenase deficiency|MADD|glutaric acidemia 2A|glutaric acidemia 2|glutaric aciduria 2|multiple acyl Coenzyme A dehydrogenase deficiency|glutaric acidemia 2B|Etfdh deficiency|EMA|Etfa deficiency|Etfb deficiency|ethylmalonic-Adipicaciduria|glutaric acidemia type II|Ga 2|glutaric acidemia 2C|glutaric aciduria, type 2|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|electron transfer flavoprotein deficiency|glutaric acidemia type 2|MAD deficiency|glutaric aciduria type 2					Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670).						ICD10:E71.313|Orphanet:26791|NCIT:C84907|ICD10:E71.3|DOID:0060358|OMIM:231680|GARD:0006523|UMLS:C0268596																		owl:Class
MONDO:0033683	biolink:NamedThing	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome		mondoexuq1wtf	MYSM1 deficiency											Orphanet:508542																		owl:Class
MONDO:0017210	biolink:NamedThing	infectious anterior uveitis	An infectious disease involving a pathogenic inflammatory response in the anterior uvea.	mondoexuq1wtf	secondary infected iridocyclitis|infectious secondary iridocyclitis|secondary iridocyclitis, infectious											COHD:440716|Orphanet:279922|ICD10:H20.03|DOID:9389|ICD10:H20.9|SCTID:193487008|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|ICD10:H20.8|ICD9:364.03|UMLS:C0154911																		owl:Class
MONDO:0005867	biolink:NamedThing	Mycoplasma pneumoniae pneumonia	Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.	mondoexuq1wtf	pneumonia due to Mycoplasma pneumoniae (disorder)|cold agglutinin positive pneumonia|Mycoplasma pneumonia|pneumonia due to Mycoplasma pneumoniae|pneumonia due to Eaton's agent|Mycoplasmal pneumonia											EFO:0007387|GARD:0007125|MESH:D011019|DOID:13276|NCIT:C122526|ICD9:483.0|ICD10:J15.7|SCTID:46970008																		owl:Class
MONDO:0011642	biolink:NamedThing	carnitine acetyltransferase deficiency	A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.	mondoexuq1wtf	acetyl-carnitine deficiency|carnitine acetyltransferase deficiency|CrAT|Acetyl-carnitine deficiency											GTR:AN0098794|SCTID:124257002|ICD9:277.6|UMLS:C1443228|MESH:C563249|GTR:AN0098795|GARD:0008602|OMIM:606175|UMLS:CN035113														https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency				owl:Class
MONDO:0009167	biolink:NamedThing	Bonnemann-Meinecke-Reich syndrome	Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	mondoexuq1wtf	encephalopathy-intracerebral calcification-retinal degeneration syndrome|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|Bonnemann Meinecke Reich syndrome											OMIM:225755|UMLS:C1856973|Orphanet:1261|GARD:0002113|ICD10:Q04.8|MESH:C565594|SCTID:733049004														https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration				owl:Class
MONDO:0015325	biolink:NamedThing	cataract-deafness-hypogonadism syndrome	Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	mondoexuq1wtf	Schaap-Taylor-Baraitser syndrome											ICD10:Q87.8|Orphanet:1383|SCTID:722378009|MESH:C536626																		owl:Class
MONDO:0009892	biolink:NamedThing	Chuvash polycythemia	Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	mondoexuq1wtf	Chuvash type polycythemia|VHL familial polycythemia|familial polycythemia caused by mutation in VHL|Chuvash erythrocytosis|erythrocytosis, familial, 2|polycythemia, Chuvash type|polycythemia, VHL-dependent|erythrocytosis, autosomal recessive benign|Von Hippel-Lindau-dependent polycythemia|ECYT2|autosomal recessive benign erythrocytosis|familial erythrocytosis 2|Chuvash erythromatosis|erythrocytosis, familial, type 2|Chuvash polycythemia											Orphanet:238557|OMIM:263400|ICD10:D75.1|DOID:0060474|UMLS:C1837915|MESH:C563918																		owl:Class
MONDO:0001295	biolink:NamedThing	idiopathic peripheral autonomic neuropathy		mondoexuq1wtf												ICD10:G90.09|SCTID:86489003|COHD:194913|ICD10:G90.0|DOID:11488|ICD9:337.00|UMLS:C0154690|ICD9:337.0																		owl:Class
MONDO:0012188	biolink:NamedThing	neuronal ceroid lipofuscinosis 9	Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	mondoexuq1wtf	CLN 9|ceroid lipofuscinosis, neuronal, 9|CLN9 disease|CLN9|neuronal ceroid lipofuscinosis type 9											GARD:0006618|Orphanet:228357|OMIM:609055|DOID:0110733|ICD10:E75.4|MESH:C537953														https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9				owl:Class
MONDO:0012525	biolink:NamedThing	Leber congenital amaurosis 12	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.	mondoexuq1wtf	Leber congenital amaurosis type 12|Leber congenital amaurosis caused by mutation in RD3|LCA12|RD3 Leber congenital amaurosis|Leber congenital amaurosis 12|amaurosis congenita of Leber, type 12											ICD10:H35.5|DOID:0110080|OMIM:610612|GARD:0010489|MESH:C565697														https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12				owl:Class
MONDO:0005920	biolink:NamedThing	Plasmodium falciparum malaria	Malaria resulting from infection by Plasmodium falciparum.	mondoexuq1wtf	malignant tertian fever|malignant tertian fever (finding)|malaria fever, subtertian|falciparum malaria [malignant tertian]|falciparum malaria|Plasmodium falciparum malaria, unspecified											UMLS:C0024535|ICD9:084.0|MESH:D016778|DOID:14067|ICD10:B50.9|ICD9:084.9|ICD10:B50|COHD:438343|SCTID:62676009|EFO:0007444|NCIT:C34798																		owl:Class
MONDO:0022456	biolink:NamedThing	ankle defects short stature		mondoexuq1wtf												GARD:0000694														https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature				owl:Class
MONDO:0007832	biolink:NamedThing	interferon antiviral depressor		mondoexuq1wtf	interferon antiviral depressor											OMIM:147560																		owl:Class
MONDO:0007397	biolink:NamedThing	craniometaphyseal dysplasia, autosomal dominant		mondoexuq1wtf	craniometaphyseal dysplasia, Jackson type|CMDD|craniometaphyseal dysplasia, autosomal dominant|CMD|CMDJ|craniometaphyseal dysplasia Jackson type											GARD:0001581|UMLS:C1852502|MESH:C565145|OMIM:123000																		owl:Class
MONDO:0023571	biolink:NamedThing	Kozlowski Rafinski Klicharska syndrome		mondoexuq1wtf	metaphyseal and epiphyseal dysplasia with unusual facies and cataract											UMLS:C2931513|GARD:0003140|MESH:C537509														https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome				owl:Class
MONDO:0023054	biolink:NamedThing	klumpke's paralysis	Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.	mondoexuq1wtf	klumpke's paralysis|klumpke-dC)jerine brachial plexus injury|Klumpke's palsy|klumpke's palsy|Klumpke-DC)jerine paralysis|Klumpke's Palsy|Palsy, Klumpke's|Klumpke Palsy|klumpke paralysis|Paralysis, Klumpke|Klumpke-DC)jerine brachial plexus injury|Klumpke Paralysis|Lower brachial plexus palsy|klumpke-dC)jerine paralysis|Lower Brachial Plexus Palsy|Klumpkes Palsy|Paralysis of the Lower Brachial Plexus|Palsy, Dejerine-Klumpke|Klumpke paralysis|klumpke-dejerine paralysis|Dejerine-Klumpke Palsy|Klumpke-Dejerine paralysis|Dejerine Klumpke Palsy|Klumpke's paralysis|Dejerine-Klumpke palsy											SCTID:83886009|NCIT:C116724|UMLS:C0270898|GARD:0003123																		owl:Class
MONDO:0005788	biolink:NamedThing	hepatitis E virus infection	Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.	mondoexuq1wtf	hepatitis type E|Hepatitis E virus hepatitis|Hepatitis E virus caused hepatitis											GARD:0009541|DOID:4411|EFO:0007303|MESH:D016751|UMLS:C0085293|SCTID:7111000119109														https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e				owl:Class
MONDO:0011050	biolink:NamedThing	microcephaly-cardiac defect-lung malsegmentation syndrome	Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	mondoexuq1wtf	microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|Ellis Yale Winter syndrome|Ellis-Yale-Winter syndrome|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs											Orphanet:2516|GARD:0002098|SCTID:719379001|ICD10:Q87.8|MESH:C563341|OMIM:601355																		owl:Class
MONDO:0006366	biolink:NamedThing	Peutz-Jeghers polyp of the stomach	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.	mondoexuq1wtf	Gastric Peutz-Jeghers polyp											EFO:1000471|NCIT:C36205|UMLS:C1335398																		owl:Class
MONDO:0007556	biolink:NamedThing	epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	mondoexuq1wtf	epidermolysis bullosa simplex with mottled pigmentation|EBS with mottled pigmentation|speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS-MP|EBSMP											GARD:0009737|DOID:0111346|SCTID:254180002|ICD9:757.39|Orphanet:79397|OMIM:131960|MESH:C535959|ICD10:Q81.0														https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation				owl:Class
MONDO:0014076	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 5	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.	mondoexuq1wtf	dyskeratosis congenita, autosomal recessive 5|autosomal recessive dyskeratosis congenita 5|DKCB5|DKCA4|autosomal dominant dyskeratosis congenita 4|dyskeratosis congenita, autosomal dominant 4|dyskeratosis congenita, autosomal recessive type 5											DOID:0070022|UMLS:C3554656|OMIM:615190|DOID:0070020																		owl:Class
MONDO:0004314	biolink:NamedThing	malignant cutaneous granular cell skin tumor		mondoexuq1wtf	malignant cutaneous granular cell tumor|malignant granular cell skin tumor|malignant granular cell tumor of skin|malignant granular cell neoplasm of skin|malignant granular cell skin neoplasm|malignant granular cell tumor of the skin|malignant granular cell neoplasm of the skin											NCIT:C5614|DOID:7639|UMLS:C1334575																		owl:Class
MONDO:0002291	biolink:NamedThing	cutaneous granular cell tumor	A granular cell tumor that involves the zone of skin.	mondoexuq1wtf	skin granular cell neoplasm|granular cell tumor of skin|granular cell tumor of zone of skin|granular cell neoplasm of skin|cutaneous granular cell neoplasm|granular cell skin tumor|granular cell neoplasm of the skin|granular cell tumor of the skin|skin granular cell tumor|cutaneous granular cell tumor|zone of skin granular cell tumor											ICD9:215.9|SCTID:254763007|DOID:2410|UMLS:C0346060|NCIT:C5617																		owl:Class
MONDO:0016834	biolink:NamedThing	16p11.2p12.2 microduplication syndrome	16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	mondoexuq1wtf	dup(16)(p11.2p12.2)|trisomy 16p11.2p12.2											UMLS:CN202168|UMLS:C4518821|SCTID:733518000|Orphanet:261204|ICD10:Q92.3																		owl:Class
MONDO:0011123	biolink:NamedThing	type 1 diabetes mellitus 15	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.	mondoexuq1wtf	IDDM15|insulin-dependent diabetes mellitus 15|diabetes mellitus, insulin-dependent, 15											UMLS:C1866519|MESH:C566645|OMIM:601666|DOID:0110753|ICD10:E10																		owl:Class
MONDO:0041259	biolink:NamedThing	diphtheritic myocarditis	An myocarditis caused by infection with Corynebacterium diphtheriae.	mondoexuq1wtf	Corynebacterium diphtheriae myocarditis|diphtheritic myocarditis|Corynebacterium diphtheriae caused myocarditis											SCTID:26117009|UMLS:C0152952																		owl:Class
MONDO:0001114	biolink:NamedThing	bacterial myocarditis	Myocarditis that is caused by an infection with a bacterial agent.	mondoexuq1wtf	septic myocarditis											UMLS:C1384588|ICD10:I40.0|DOID:10779|NCIT:C128380|UMLS:C0155690|ICD9:422.92|SCTID:64043005																		owl:Class
MONDO:0045059	biolink:NamedThing	cribriform carcinoma of breast		mondoexuq1wtf	ductal carcinoma, cribriform type|cribriform carcinoma											DOID:5675																		owl:Class
MONDO:0023726	biolink:NamedThing	mediastinal yolk sac tumor	An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.	mondoexuq1wtf	yolk Sac tumor of mediastinum|mediastinal endodermal sinus tumor|EST|endodermal sinus neoplasm of the mediastinum|yolk Sac neoplasm of the mediastinum|endodermal sinus tumor of mediastinum|yolk Sac neoplasm of mediastinum|endodermal sinus neoplasm of mediastinum|mediastinal endodermal sinus neoplasm|mediastinal endodermal sinus tumors|endodermal sinus tumor of the mediastinum|mediastinal yolk Sac tumor|yolk Sac tumor of the mediastinum|mediastinum yolk sac tumor|mediastinal yolk Sac neoplasm											NCIT:C6443|UMLS:C1334683|GARD:0008258																		owl:Class
MONDO:0013360	biolink:NamedThing	brachyolmia, Maroteaux type	Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.	mondoexuq1wtf	brachyolmia type 2|brachyolmia, Maroteaux type|BCYM2											SCTID:389165004|ICD10:Q76.3|OMIM:613678|Orphanet:93302																		owl:Class
MONDO:0015274	biolink:NamedThing	chronic beryllium disease	Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.	mondoexuq1wtf	beryllium poisoning|berylliosis|chronic pulmonary berylliosis|chronic berylliosis|chronic beryllium lung disease|Subacute berylliosis|reversible berylliosis|acute berylliosis|Beryllliosis|beryllium disease											MedDRA:10004485|MESH:D001607|GARD:0000867|SCTID:18121009|Orphanet:133|ICD9:503|ICD10:J63.2|EFO:0007168|DOID:10322																		owl:Class
MONDO:0007121	biolink:NamedThing	aniridia, microcornea, and spontaneously Reabsorbed cataract		mondoexuq1wtf	aniridia, microcornea, and spontaneously Reabsorbed cataract											UMLS:C1862867|MESH:C566280|OMIM:106230																		owl:Class
MONDO:0009111	biolink:NamedThing	dihydropyrimidinuria	Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.	mondoexuq1wtf	DPYSD|Dpys deficiency|dihydropyrimidinuria|dihydropyrimidinase deficiency|Dph deficiency											DOID:0111629|Orphanet:38874|ICD9:277.2|OMIM:222748|GARD:0012347|SCTID:238014002|ICD10:E79.8																		owl:Class
MONDO:0009413	biolink:NamedThing	immunodeficiency, common variable, 2		mondoexuq1wtf	immunodeficiency, common variable, type 2|antibody deficiency due to TACI defect|hypogammaglobulinemia due to TACI deficiency|immunodeficiency, common variable, 2|CVID2											UMLS:C3150354|OMIM:240500																		owl:Class
MONDO:0017882	biolink:NamedThing	Omsk hemorrhagic fever	Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.	mondoexuq1wtf												ICD10:A98.1|GARD:0008254|UMLS:C0019103|ICD9:065.1|SCTID:48113006|Orphanet:319266|MESH:D006481|MedDRA:10030310|DOID:992														https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever				owl:Class
MONDO:0014435	biolink:NamedThing	Bardet-Biedl syndrome 7	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.	mondoexuq1wtf	Bardet-Biedl syndrome caused by mutation in BBS7|Bardet-Biedl syndrome type 7|BBS7 Bardet-Biedl syndrome|BBS7|Bardet-Biedl syndrome 7											DOID:0110129|MESH:C565916|OMIM:615984|GARD:0010206|ICD10:Q87.89|UMLS:C1859565|EFO:0009026														https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7				owl:Class
MONDO:0003875	biolink:NamedThing	childhood central nervous system mature teratoma	A mature teratoma that arises from the central nervous system during childhood.	mondoexuq1wtf	central nervous system mature teratoma of childhood|childhood central nervous system mature teratoma|pediatric central nervous system mature teratoma											UMLS:C1332955|NCIT:C27404|DOID:6423																		owl:Class
MONDO:0010232	biolink:NamedThing	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.	mondoexuq1wtf	intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|CIIP|congenital short bowel syndrome, X-linked|congenital idiopathic intestinal pseudoobstruction|Ipox|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|CIIP X-linked|CIIPX|Ciip, X-linked											MESH:C535532|OMIM:300048|GARD:0003017														https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked				owl:Class
MONDO:0010973	biolink:NamedThing	autosomal dominant nonsyndromic deafness 5	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.	mondoexuq1wtf	GSDME autosomal dominant nonsyndromic deafness|autosomal dominant deafness 5|deafness, autosomal dominant type 5|DFNA5|deafness, autosomal dominant 5|autosomal dominant nonsyndromic deafness type 5|autosomal dominant nonsyndromic deafness caused by mutation in GSDME											ICD10:H90.3|MESH:C563410|UMLS:C1832932|DOID:0110575|OMIM:600994																		owl:Class
MONDO:0001780	biolink:NamedThing	premature ejaculation	A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.	mondoexuq1wtf	premature ejaculation|premature ejaculation (disease)		premature ejaculation (disease)									MESH:D061686|NCIT:C94349|ICD10:F52.4|HP:0012876|COHD:434319|DOID:13709|ICD9:302.75																		owl:Class
MONDO:0016837	biolink:NamedThing	16p13.11 microduplication syndrome	16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	mondoexuq1wtf	dup(16)(p13.11)|trisomy 16p13.11											UMLS:CN202173|UMLS:C4304595|GARD:0013392|Orphanet:261243|ICD10:Q92.3|SCTID:719578005														https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome				owl:Class
MONDO:0015668	biolink:NamedThing	hereditary dentin defect	The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.	mondoexuq1wtf												Orphanet:167759|ICD10:K00.5																		owl:Class
MONDO:0005960	biolink:NamedThing	silicosis	Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.	mondoexuq1wtf	nodular silicosis|chronic silicosis|accelerated silicosis|silicosis|experimental silicosis|pneumoconiosis due to silica|silicatosis|silicotic fibrosis of lung|silicotuberculosis|silica pneumoconiosis|pneumoconiosis caused by silica|acute silicosis|pneumoconiosis due to silicates											GARD:0007647|NCIT:C3369|UMLS:C0037116|SCTID:805002|ICD10:J62.8|MESH:D012829|DOID:10325|ICD9:502|EFO:0007485|ICD10:J62														https://rarediseases.info.nih.gov/diseases/7647/silicosis				owl:Class
MONDO:0010923	biolink:NamedThing	proximal myopathy with focal depletion of mitochondria		mondoexuq1wtf	proximal myopathy with focal depletion of mitochondria											MESH:C563453|OMIM:600706|Orphanet:521305|UMLS:C1833453																		owl:Class
MONDO:0013107	biolink:NamedThing	atopic dermatitis 7	An atopic dermatitis associated with variation in the region 11q13.5.	mondoexuq1wtf	ATOD7|atopic dermatitis type 7|dermatitis, ATOPIC, 7											UMLS:C2751599|DOID:0110103|OMIM:613064|MESH:C567796																		owl:Class
MONDO:0003058	biolink:NamedThing	microcystic meningioma	A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.	mondoexuq1wtf	microcystic meningioma (morphologic abnormality)|microcystic meningioma											NCIT:C4721|UMLS:C1384408|DOID:4594|EFO:1000376																		owl:Class
MONDO:0005536	biolink:NamedThing	pancolitis	Ulcerative colitis that involves the entire colon.	mondoexuq1wtf	pan-ulcerative colitis|universal colitis											EFO:0005626																		owl:Class
MONDO:0005101	biolink:NamedThing	ulcerative colitis	An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.	mondoexuq1wtf	colitis ulcerative|ulcerative colitis (disease)|ulcerative colitis|left-sided ulcerative colitis		ulcerative colitis (disease)									MESH:D003093|DOID:8577|ICD10:K51.9|EFO:0000729|ICD9:556.9|HP:0100279|UMLS:C0009324|ICD9:556|ICD9:556.5|ICD10:K51|ICD9:556.8|SCTID:64766004|NCIT:C2952																		owl:Class
MONDO:0031006	biolink:NamedThing	neurodegeneration with ataxia and late-onset optic atrophy		mondoexuq1wtf	NDAXOA											OMIM:619259																		owl:Class
MONDO:0006348	biolink:NamedThing	pancreatic small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	endocrine pancreas small cell carcinoma|pancreatic small cell neuroendocrine carcinoma|small cell carcinoma of endocrine pancreas|pancreatic small cell NEC|pancreatic small cell NEC G3											UMLS:C2987240|NCIT:C95583|EFO:1000444																		owl:Class
MONDO:0005893	biolink:NamedThing	pancreatic endocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.	mondoexuq1wtf	pancreatic NEC G3|carcinoma of endocrine pancreas|malignant islet cell tumor|high-grade pancreatic neuroendocrine carcinoma|malignant pancreatic endocrine tumor|poorly-differentiated NEN of pancreas|islet cell carcinoma|malignant neoplasm of islets of Langerhans|poorly-differentiated neuroendocrine neoplasm of pancreas|pancreatic endocrine carcinoma|poorly-differentiated pancreatic neuroendocrine neoplasm|islet cell carcinoma (morphologic abnormality)|poorly differentiated pancreatic endocrine carcinoma|endocrine pancreas carcinoma|islet cell cancer|neuroendocrine carcinoma of pancreas|Pancreatic Neuroendocrine cancer|high grade pancreatic neuroendocrine carcinoma|carcinoma, islet cell, malignant|pancreatic endocrine cancer|pancreatic NEC|poorly-differentiated pancreatic NEN|pancreatic neuroendocrine carcinoma											SCTID:254612002|ICDO:8150/3|UMLS:C1328479|NCIT:C3770|MESH:D018273|ICD9:157.4|ICD10:C25.4|DOID:1798|EFO:0007416|Orphanet:506098																		owl:Class
MONDO:0009662	biolink:NamedThing	mucopolysaccharidosis type 7	Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.	mondoexuq1wtf	MPSVII|beta-glucuronidase deficiency|Beta-glucuronidase deficiency|MPS VII - Sly syndrome|MPS VII - mucopolysaccharidosis VII|mucopolysaccharidosis VII|gusb deficiency|mucopolysaccharidosis, type VII|MPS VII|mucopolysaccharidosis, type 7|mucopolysaccharidosis type VII|MPS 7|deficiency of beta-glucuronidase|Gus deficiency|MPS7|Gusb deficiency|Sly syndrome|mucopolysaccharidosis, mps-VII|Sly disease											DOID:12803|Orphanet:584|SCTID:43916004|ICD10:E76.2|NCIT:C84903|ICD10:E76.29|GARD:0007096|MedDRA:10056893|UMLS:C0085132|MESH:D016538|OMIM:253220																		owl:Class
MONDO:0024655	biolink:NamedThing	rheumatic pericarditis		mondoexuq1wtf	rheumatic pericarditis											UMLS:C0264747|SCTID:28381002																		owl:Class
MONDO:0008823	biolink:NamedThing	arthrogryposis multiplex congenita 2, neurogenic type	Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	mondoexuq1wtf	neurogenic arthrogryposis multiplex congenita|neurogenic type of AMC|arthrogryposis multiplex congenita neurogenic type|AMC, neurogenic type|AMC neurogenic type|AMCN|arthrogryposis multiplex congenita, neurogenic type											DOID:0090124|ICD10:Q74.3|MESH:C536614|GARD:0000790|SCTID:715316005|OMIM:208100|UMLS:C1859721|Orphanet:1143																		owl:Class
MONDO:0013960	biolink:NamedThing	sinoatrial node dysfunction and deafness	Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	mondoexuq1wtf	SANDD|sinoatrial node dysfunction and deafness											Orphanet:324321|OMIM:614896|UMLS:C3554018																		owl:Class
MONDO:0012404	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 8		mondoexuq1wtf	SLEB8|systemic lupus erythematosus, susceptibility to, 8											OMIM:610066																		owl:Class
MONDO:0021390	biolink:NamedThing	polyp of ureter	A polyp that involves the ureter.	mondoexuq1wtf	ureteral polyp|polyp of the ureter|ureter polyp											UMLS:C0346269|NCIT:C4530|SCTID:197821004|ICD9:593.89																		owl:Class
MONDO:0044702	biolink:NamedThing	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome		mondoexuq1wtf	deafness, X-linked 7|DFNX7											OMIM:301018|DOID:0111738|Orphanet:500188																		owl:Class
MONDO:0024527	biolink:NamedThing	glomerulopathy with fibronectin deposits 1		mondoexuq1wtf	GFND1|glomerulopathy with giant fibrillar deposits|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1											OMIM:137950																		owl:Class
MONDO:0007671	biolink:NamedThing	fibronectin glomerulopathy	Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.	mondoexuq1wtf	GFND2|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy|glomerulopathy with giant fibrillar deposits|GFND|lobular glomerulopathy, familial|GFND1|glomerulopathy with fibronectin deposits|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with fibronectin deposits 1					Editor note: consider splitting out type 1, and also separate class for giant subtype						ICD10:N07.6|SCTID:236535001|MESH:C536826|Orphanet:84090|DC:0000174|GARD:0009268|MESH:C562900|OMIMPS:137950														https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1				owl:Class
MONDO:0019026	biolink:NamedThing	autosomal recessive osteopetrosis	An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.	mondoexuq1wtf	autosomal recessive malignant osteopetrosis|malignant osteopetrosis|infantile malignant osteopetrosis|OPTB|autosomal recessive osteopetrosis|autosomal recessive osteopetrosis (disease)|osteopetrosis (disease), autosomal recessive											Orphanet:667|ICD10:Q78.2|OMIMPS:259700|SCTID:367489004|NCIT:C129733																		owl:Class
MONDO:0021113	biolink:NamedThing	respiratory failure	The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.	mondoexuq1wtf	chronic respiratory failure|acute and chronic respiratory failure|acute-on-chronic respiratory failure|acute respiratory failure|respiratory insufficiency/failure|failure, respiratory|respiratory failure											SCTID:39871006|ICD10:J96.0|NCIT:C26872|DOID:11162|MESH:D012131|UMLS:C1145670|ICD9:518.83|ICD9:518.81																		owl:Class
MONDO:0001149	biolink:NamedThing	microcephaly	A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.	mondoexuq1wtf	microencephaly|microcephalus|microcephaly (disease)|microcephaly		microcephaly (disease)									SCTID:1829003|HP:0000252|ICD10:Q02|DOID:10907|COHD:381114|GARD:0003603|NCIT:C85874|ICD9:742.1																		owl:Class
MONDO:0012769	biolink:NamedThing	prostate cancer, hereditary, 14		mondoexuq1wtf	prostate cancer, hereditary, 14|HPC14											MESH:C567448|UMLS:C2677772|OMIM:611958																		owl:Class
MONDO:0056803	biolink:NamedThing	sulfur metabolism disease	A disease that has its basis in the disruption of sulfur compound metabolic process.	mondoexuq1wtf	disorder of sulfur metabolism|disorder of sulphur metabolism|disorder of sulfur metabolic process|sulfur compound metabolic process disease|disorder of sulfur compound metabolic process											UMLS:C1263724|SCTID:123809005																		owl:Class
MONDO:0009898	biolink:NamedThing	polysaccharide, storage of unusual		mondoexuq1wtf	polysaccharide, storage of unusual											MESH:C564877|OMIM:263600																		owl:Class
MONDO:0030043	biolink:NamedThing	congenital disorder of glycosylation, type iit		mondoexuq1wtf	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt|CDG2T|Cdg Iit											OMIM:618885																		owl:Class
MONDO:0019124	biolink:NamedThing	microscopic polyangiitis	Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.	mondoexuq1wtf	microscopic polyarteritis|MPA|Micropolyangiitis											ICD10:M31.7|MedDRA:10063344|SCTID:239928004|GARD:0003652|EFO:1000784|NCIT:C70549|Orphanet:727|MESH:D055953|UMLS:C2347126														https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis				owl:Class
MONDO:0002518	biolink:NamedThing	gallbladder papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.	mondoexuq1wtf	intracystic papillary neoplasm|gall bladder papillary epithelial neoplasm|gallbladder papillary neoplasm|gallbladder papillomatosis											UMLS:C1333754|NCIT:C7130|DOID:3120																		owl:Class
MONDO:0006172	biolink:NamedThing	conjunctival nevus	A benign melanocytic neoplasm that arises from the conjunctiva.	mondoexuq1wtf	conjunctival nevus|Nevus of the conjunctiva|Nevus of conjunctiva											SCTID:255006004|DOID:0050906|NCIT:C4551|UMLS:C0346363|EFO:1000205																		owl:Class
MONDO:0006633	biolink:NamedThing	acalculous cholecystitis	Inflammation of the gallbladder in the absence of gallstones.	mondoexuq1wtf	cholecystitis without calculus|acute acalculous cholecystitis|acute cholecystitis without calculus											MESH:D042101|NCIT:C35578|SCTID:19968009|UMLS:C0267842|MedDRA:10000347|DOID:2828|EFO:1000790|UMLS:C0267841																		owl:Class
MONDO:0013741	biolink:NamedThing	familial temporal lobe epilepsy 5	A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.	mondoexuq1wtf	ETL5|familial temporal lobe epilepsy type 5|epilepsy, familial temporal lobe, 5|epilepsy, familial temporal lobe, type 5											UMLS:C3280730|OMIM:614417|DOID:0060752																		owl:Class
MONDO:0000950	biolink:NamedThing	asthenopia	Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.	mondoexuq1wtf	accommodative strain											MESH:D001248|ICD10:H53.14|UMLS:C0004095|DOID:10141																		owl:Class
MONDO:0005396	biolink:NamedThing	thoracic aortic aneurysm	An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	mondoexuq1wtf												UMLS:C0162872|EFO:0004282|MESH:D017545|DOID:14004|SCTID:433068007																		owl:Class
MONDO:0010433	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 15		mondoexuq1wtf	SLEB15|systemic lupus erythematosus, susceptibility to, 15											OMIM:300809																		owl:Class
MONDO:0011757	biolink:NamedThing	brachydactyly type A1B		mondoexuq1wtf	brachydactyly, type A1, B|BDA1B											OMIM:607004|MESH:C564635|UMLS:C1846949|DOID:0110974																		owl:Class
MONDO:0009073	biolink:NamedThing	Ritscher-Schinzel syndrome 1	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.	mondoexuq1wtf	WASHC5 Ritscher-Schinzel syndrome|RTSC|Ritscher-Schinzel syndrome type 1|RTSC1|Ritscher-Schinzel syndrome 1|Craniocerebellocardiac dysplasia|Ritscher-Schinzel syndrome caused by mutation in WASHC5|3C syndrome|Ritscher-Schinzel syndrome|Dandy-Walker-like malformation with atrioventricular septal defect											DOID:0060571|OMIM:220210																		owl:Class
MONDO:0004089	biolink:NamedThing	basaloid carcinoma of the penis	An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.	mondoexuq1wtf	basaloid squamous cell carcinoma of the penis|penis basaloid squamous cell carcinoma|basaloid carcinoma of penis|squamous cell carcinoma of penis, basaloid type|penis basaloid carcinoma|basaloid carcinoma of the penis|squamous cell carcinoma of the penis, basaloid type|basaloid penile squamous cell carcinoma|basaloid squamous cell carcinoma of penis|BPSCC											ONCOTREE:BPSCC|UMLS:C1332462|NCIT:C6980|DOID:7047																		owl:Class
MONDO:0002735	biolink:NamedThing	anal canal adenocarcinoma	An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.	mondoexuq1wtf	adenocarcinoma of anal canal|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma|anal canal adenocarcinoma (disease)|adenocarcinoma of the anal canal|adenocarcinoma arising in the anal mucosa		anal canal adenocarcinoma (disease)									SCTID:764845008|HP:0030439|NCIT:C7471|Orphanet:424016|UMLS:C1332259|DOID:3692|ICD10:C21.1																		owl:Class
MONDO:0007217	biolink:NamedThing	brachydactyly type A3		mondoexuq1wtf	brachydactyly-clinodactyly|Brachymesophalangy 5|BDA3|brachydactyly, type A3|brachymesophalangy V					Editor note: OMIM xrefs Orphanet:93393 but this appears not to exist						MESH:C537090|UMLS:C1862140|DOID:0110966|GARD:0000963|OMIM:112700														https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3				owl:Class
MONDO:0004504	biolink:NamedThing	penile urethral cancer	A urethra cancer that involves the penis.	mondoexuq1wtf	penis urethra cancer|penile urethral malignant neoplasm|urethra cancer of penis											UMLS:C1518950|NCIT:C39868|DOID:8223																		owl:Class
MONDO:0024626	biolink:NamedThing	defective phagocytic cell engulfment		mondoexuq1wtf	defective phagocytic cell killing											UMLS:C0398742|SCTID:234585008																		owl:Class
MONDO:0020324	biolink:NamedThing	intravascular large B-cell lymphoma	Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.	mondoexuq1wtf	malignant angioendotheliomatosis|intravascular lymphomatosis|angiotropic large cell lymphoma|intravascular large B-cell lymphoma|IVBCL|Tappeiner-Pfleger disease|angioendotheliomatosis proliferans systemisata|intravascular B-cell lymphoma|angiotropic lymphoma											ONCOTREE:IVBCL|ICDO:9712/3|Orphanet:98839|ICD10:C83.3|NCIT:C4342|ICD9:202.80|MedDRA:10069643|UMLS:CN207146|SCTID:255102004																		owl:Class
MONDO:0009545	biolink:NamedThing	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance		mondoexuq1wtf	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|Macroepiphyseal dysplasia, McAlister coe type|McAlister coe Whyte syndrome											UMLS:C2931597|GARD:0000173|OMIM:248010|MESH:C537721														https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance				owl:Class
MONDO:0004294	biolink:NamedThing	gestational ovarian choriocarcinoma	A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.	mondoexuq1wtf	gestational ovarian choriocarcinoma											NCIT:C40442|UMLS:C1517538|DOID:7591																		owl:Class
MONDO:0000939	biolink:NamedThing	intracranial abscess	An abscess that is located in the intracranial space.	mondoexuq1wtf												UMLS:C0021874|ICD9:324.0|COHD:435509|SCTID:27614006|DOID:10095|NCIT:C34734																		owl:Class
MONDO:0009089	biolink:NamedThing	deafness-oligodontia syndrome	Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	mondoexuq1wtf	deafness oligodontia syndrome|congenital profound sensorineural deafness and oligodontia|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|deafness-oligodontia syndrome											UMLS:C1857333|GARD:0001698|Orphanet:3230|MESH:C538049|OMIM:221740														https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome				owl:Class
MONDO:0018247	biolink:NamedThing	CADDS		mondoexuq1wtf	Zellweger-like contiguous gene deletion syndrome|CADDS|contiguous ABCD1 DXS1357E deletion syndrome											ICD10:Q87.8|GARD:0012472|UMLS:CN180200|Orphanet:369942																		owl:Class
MONDO:0008257	biolink:NamedThing	platelet responsiveness to adrenaline, depressed		mondoexuq1wtf	platelet responsiveness to adrenaline, depressed											OMIM:173580																		owl:Class
MONDO:0011005	biolink:NamedThing	trisomy 18-like syndrome		mondoexuq1wtf	trisomy 18-like syndrome											MESH:C563382|UMLS:C1832677|OMIM:601161																		owl:Class
MONDO:0020360	biolink:NamedThing	complete cryptophthalmia		mondoexuq1wtf												ICD10:Q11.2|DOID:0111719|Orphanet:98949																		owl:Class
MONDO:0021232	biolink:NamedThing	pineal body neoplasm	A neoplasm (disease) that involves the pineal body.	mondoexuq1wtf	tumor of the pineal area|neoplasm of pineal area|neoplasm of the pineal area|pineal neoplasm|tumor of pineal body|tumor of pineal area|pineal tumor|pinealoma|pineal body neoplasm (disease)|pineal body tumor|pineal area tumor|pineal area neoplasm|pineal region neoplasm|tumor of the pineal region|neoplasm of the pineal region|tumor of pineal region|pineal region tumor|neoplasm of pineal body|neoplasm of pineal region											ONCOTREE:PINT|NCIT:C3328																		owl:Class
MONDO:0008199	biolink:NamedThing	late-onset Parkinson disease		mondoexuq1wtf	PD|Parkinson disease, late-onset|park											UMLS:C3160718|OMIM:168600																		owl:Class
MONDO:0004926	biolink:NamedThing	dacryocystitis	Inflammation of the lacrimal sac.	mondoexuq1wtf	Dacryocystitides|dacryoadenitis|lacrimal sac inflammation|inflammation of lacrimal sac|Dacryoadenitides											ICD10:H04.30|NCIT:C34521|DOID:9938|MESH:D003607|SCTID:85777005|ICD9:375.30|COHD:439025|UMLS:C0010930																		owl:Class
MONDO:0011113	biolink:NamedThing	Charcot-Marie-Tooth disease type 4C	Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.	mondoexuq1wtf	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease, type 4C|CMT4C|Charcot-Marie-Tooth neuropathy type 4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|CMT 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth neuropathy, type 4C|SH3TC2 Charcot-Marie-Tooth disease type 4											DOID:0110183|UMLS:C1866636|MESH:C535423|SCTID:715797002|OMIM:601596|NCIT:C129864|GARD:0009201|Orphanet:99949|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c				owl:Class
MONDO:0017949	biolink:NamedThing	ABeta amyloidosis, Arctic type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.	mondoexuq1wtf	cerebral amyloid angiopathy, APP-related, Arctic variant|ABetaE22G amyloidosis|HCHWA, Arctic type|hereditary cerebral hemorrhage with amyloidosis, Arctic type											ICD10:E85.4+|ICD10:I68.0*|Orphanet:324723																		owl:Class
MONDO:0008184	biolink:NamedThing	pancreas, dorsal, agenesis of		mondoexuq1wtf	complete agenesis of the dorsal pancreas|congenital short pancreas|pancreas agenesis, dorsal|pancreas, dorsal, agenesis of|agenesis of the dorsal pancreas|partial agenesis of the dorsal pancreas											UMLS:C1868659|OMIM:167755|GARD:0004203|MESH:C538109																		owl:Class
MONDO:0012002	biolink:NamedThing	autosomal recessive nonsyndromic deafness 40	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.	mondoexuq1wtf	autosomal recessive deafness 40|autosomal recessive nonsyndromic deafness type 40|deafness, autosomal recessive 40|DFNB40											DOID:0110499|MESH:C564266|ICD10:H90.3|OMIM:608264|UMLS:C1842345																		owl:Class
MONDO:0006841	biolink:NamedThing	lymphangioendothelioma	A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.	mondoexuq1wtf	acquired progressive lymphangioma											EFO:1001026|NCIT:C3203|SCTID:403975006																		owl:Class
MONDO:0003923	biolink:NamedThing	ethmoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	mondoexuq1wtf	Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of ethmoid sinus											UMLS:C1333476|DOID:6559|NCIT:C6836																		owl:Class
MONDO:0021515	biolink:NamedThing	benign neoplasm of ethmoidal sinus	A benign neoplasm that involves the ethmoid sinus.	mondoexuq1wtf	benign ethmoidal sinus neoplasm|benign tumor of the ethmoidal sinus|benign tumor of ethmoidal sinus|benign neoplasm of the ethmoidal sinus|benign tumor of ethmoid sinus|benign ethmoid sinus tumor|benign ethmoidal sinus tumor|benign tumor of the ethmoid sinus|benign ethmoid sinus neoplasm|benign neoplasm of the ethmoid sinus|ethmoid sinus benign neoplasm|benign neoplasm of ethmoid sinus											ICD9:212.0|UMLS:C0345670|SCTID:92093000|NCIT:C4417																		owl:Class
MONDO:0007087	biolink:NamedThing	alternating hemiplegia of childhood 1	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.	mondoexuq1wtf	AHC1|alternating hemiplegia of childhood 1|alternating hemiplegia of childhood caused by mutation in ATP1A2|alternating hemiplegia of childhood type 1|ATP1A2 alternating hemiplegia of childhood											OMIM:104290|UMLS:C3549447																		owl:Class
MONDO:0012617	biolink:NamedThing	intellectual disability, autosomal recessive 9		mondoexuq1wtf	intellectual disability, autosomal recessive 9|MRT9|mental retardation, autosomal recessive 26|mental retardation, autosomal recessive 9|intellectual disability, autosomal recessive 26											OMIM:611095|UMLS:C1970195|MESH:C567014																		owl:Class
MONDO:0021966	biolink:NamedThing	baker Vinters syndrome	A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.	mondoexuq1wtf	hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies											MESH:C537899|UMLS:C2931659|GARD:0000808														https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome				owl:Class
MONDO:0021765	biolink:NamedThing	radiculitis	An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.	mondoexuq1wtf	Radiculitides|Nerve Root Inflammations|Nerve Root Inflammation|Radiculitis|Inflammation, Nerve Root|radiculitis											ICD9:729.2|NCIT:C78581|UMLS:C0034544|SCTID:82473003																		owl:Class
MONDO:0024234	biolink:NamedThing	Seckel like syndrome majoor-krakauer type		mondoexuq1wtf	Bird-headed dwarfism microcephaly micrognathia											GARD:0004781														https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type				owl:Class
MONDO:0006861	biolink:NamedThing	myeloid sarcoma	A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)	mondoexuq1wtf	chloroma|myeloid sarcoma|extramedullary myeloid tumor|MS|sarcoma, myeloid, malignant|granulocytic sarcoma											NCIT:C3520|GARD:0012763|ICD10:C92.3|Orphanet:86850|ONCOTREE:MS|EFO:1001052|ICD9:205.3|MESH:D023981|MedDRA:10028562|DOID:8683|COHD:140967|ICD10:C92.30|ICDO:9930/3																		owl:Class
MONDO:0006383	biolink:NamedThing	primary cutaneous diffuse large B-cell lymphoma, Leg type	An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.	mondoexuq1wtf	primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT											Orphanet:178544|EFO:1000490|ICDO:9680/3|UMLS:C1709656|ICD10:C83.3|NCIT:C45194																		owl:Class
MONDO:0001874	biolink:NamedThing	toxic labyrinthitis	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.	mondoexuq1wtf	ototoxicity											DOID:14081|SCTID:9062008|SCTID:3344003|EFO:0006951|UMLS:C0155507|ICD9:386.34																		owl:Class
MONDO:0021144	biolink:NamedThing	ovarian clear cell tumor	A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.	mondoexuq1wtf	ovarian clear cell tumor|ovarian clear cell neoplasm|clear cell ovarian cancer											NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164																		owl:Class
MONDO:0019549	biolink:NamedThing	severe early-onset axonal neuropathy due to MFN2 deficiency	Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	mondoexuq1wtf	SEOAN due to MFN2 deficiency|AR-CMT2, Ouvrier type|autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type											Orphanet:90118|SCTID:766977007|UMLS:CN206378|ICD10:G60.0																		owl:Class
MONDO:0015239	biolink:NamedThing	abnormal origin of the pulmonary artery		mondoexuq1wtf												Orphanet:1138|ICD10:Q25.7|SCTID:68092007																		owl:Class
MONDO:0012376	biolink:NamedThing	autosomal recessive nonsyndromic deafness 55	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.	mondoexuq1wtf	autosomal recessive deafness 55|deafness, autosomal recessive 55|DFNB55|autosomal recessive nonsyndromic deafness type 55											OMIM:609952|DOID:0110510|ICD10:H90.3|GARD:0009919|MESH:C538203																		owl:Class
MONDO:0013396	biolink:NamedThing	chromosome 1p32-p31 deletion syndrome	1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	mondoexuq1wtf	Del(1)(p31p32)|chromosome 1p32-p31 deletion syndrome|1p31p32 microdeletion syndrome|BRMUTD|monosomy 1p31p32|brain malformations with or without urinary tract defects											SCTID:766766005|UMLS:CN226149|UMLS:C3151036|Orphanet:401986|OMIM:613735|ICD10:Q93.5|DOID:0060409																		owl:Class
MONDO:0013030	biolink:NamedThing	dilated cardiomyopathy 1BB	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	mondoexuq1wtf	CMD1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2|cardiomyopathy, dilated, 1BB|DSG2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1BB|cardiomyopathy, dilated, type 1Bb											ICD10:I42.0|DOID:0110458|MESH:C567877|OMIM:612877|UMLS:C2752072																		owl:Class
MONDO:0005900	biolink:NamedThing	parotitis	Inflammation of the parotid glands.	mondoexuq1wtf	inflammation of parotid gland|parotid gland inflammation											ICD10:K11.2|DOID:10301|NCIT:C114281|MESH:D010309|EFO:0007423|SCTID:14756005|UMLS:C0030583																		owl:Class
MONDO:0006812	biolink:NamedThing	intracranial vasospasm	Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).	mondoexuq1wtf												DOID:13100|UMLS:C0751895|EFO:1000994|MESH:D020301																		owl:Class
MONDO:0008021	biolink:NamedThing	Cowden syndrome 1	Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.	mondoexuq1wtf	dysplastic gangliocytoma of the cerebellum|cerebelloparenchymal disorder 6|CS|Cowden syndrome 1|Lhermitte-Duclos disease|Cowden syndrome type 1|PTEN Cowden disease|cerebellar granule cell Hypertrophy and megalencephaly|CWS1|multiple hamartoma syndrome|Proteus-like syndrome|Cowden disease caused by mutation in PTEN											OMIM:158350|UMLS:CN072330																		owl:Class
MONDO:0054701	biolink:NamedThing	Kleefstra syndrome 2		mondoexuq1wtf	KLEFS2|Kleefstra syndrome 2											OMIM:617768|DOID:0080598																		owl:Class
MONDO:0045069	biolink:NamedThing	minor salivary gland carcinoma	A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.	mondoexuq1wtf	carcinoma of minor salivary gland|minor salivary gland carcinoma|minor salivary gland cancer|carcinoma of the minor salivary gland											NCIT:C5957|UMLS:C1334771																		owl:Class
MONDO:0016626	biolink:NamedThing	hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency		mondoexuq1wtf						Editor note: TODO find relevant GO class						Orphanet:248305|ICD10:D55.2																		owl:Class
MONDO:0018242	biolink:NamedThing	autoimmune hypoparathyroidism	An autoimmune form of hypoparathyroidism.	mondoexuq1wtf	autoimmune hypoparathyroidism (disease)|autoimmune hypoparathyroidism		autoimmune hypoparathyroidism (disease)									SCTID:75316000|ICD10:E20.8|HP:0011771|Orphanet:36913|UMLS:C0271865																		owl:Class
MONDO:0009871	biolink:NamedThing	pili torti-developmental delay-neurological abnormalities syndrome	Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	mondoexuq1wtf	pili torti developmental delay neurological abnormalities|pili torti and developmental delay											MESH:C537398|GARD:0004362|UMLS:C1849811|OMIM:261990|Orphanet:2891																		owl:Class
MONDO:0018918	biolink:NamedThing	carcinoma of gallbladder and extrahepatic biliary tract	Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.	mondoexuq1wtf	carcinoma of gallbladder and EBT											UMLS:CN205299|Orphanet:56044|MedDRA:10007426																		owl:Class
MONDO:0002074	biolink:NamedThing	Behcet syndrome arthropathy	Arthropathy resulting from Behcet's syndrome.	mondoexuq1wtf	arthropathy in Behcet's syndrome involving ankle and foot|arthropathy in Behcet's syndrome involving pelvic region and thigh|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving shoulder region|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving lower leg|Behcet's syndrome arthropathy|arthropathy in Behcet's syndrome involving multiple sites|arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving upper arm											ICD9:711.20|ICD9:711.2|ICD9:711.26|UMLS:C0157770|ICD9:711.28|DOID:1670|SCTID:62918002|ICD9:711.23|NCIT:C35225																		owl:Class
MONDO:0011598	biolink:NamedThing	atopic dermatitis 4	An atopic dermatitis associated with variation in the region 17q25.3.	mondoexuq1wtf	atopic dermatitis type 4|ATOD4|dermatitis, ATOPIC, 4											UMLS:C1853963|DOID:0110100|OMIM:605805|MESH:C565291																		owl:Class
MONDO:0001895	biolink:NamedThing	acute retrobulbar neuritis	Acute form of retrobulbar neuritis.	mondoexuq1wtf	retrobulbar neuritis, acute|retrobulbar neuritis (acute)											ICD9:377.32|DOID:14155|SCTID:51604006|UMLS:C0155301																		owl:Class
MONDO:0002840	biolink:NamedThing	eosinophilic gastritis	An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.	mondoexuq1wtf	eosinophilic gastritis											ICD9:535.40|ICD9:535.7|NCIT:C27052|COHD:195309|SCTID:66329006|ICD9:535.70|DOID:4030|UMLS:C0267154														https://github.com/monarch-initiative/mondo/issues/403				owl:Class
MONDO:0001938	biolink:NamedThing	vulvar dystrophy	A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.	mondoexuq1wtf	dystrophy of vulva											UMLS:C0013426|DOID:14292|SCTID:51689003|COHD:436480|ICD10:N90.4|ICD9:624.0|NCIT:C34565|ICD9:624.09																		owl:Class
MONDO:0001684	biolink:NamedThing	exocrine pancreatic insufficiency	Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.	mondoexuq1wtf	exocrine pancreatic insufficiency|exocrine pancreas insufficiency|pancreatic insufficiency											NCIT:C84316|UMLS:C0267963|SCTID:47367009|ICD10:K86.81|ICD9:577.8|MESH:D010188|DOID:13316																		owl:Class
MONDO:0100307	biolink:NamedThing	adult Refsum disease due to PEX7 defect	An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.	mondoexuq1wtf	adult Refsum disease due to PEX7 defect							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100272	biolink:NamedThing	peroxisome biogenesis disorder due to PEX7 defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.	mondoexuq1wtf	adult refsum disease due to PEX7 defect (formerly)|rhizomelic chondrodysplasia punctata type 1 (formerly)|PEX7 related peroxisome biogenesis disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0003357	biolink:NamedThing	lung leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the lung|lung leiomyosarcoma|leiomyosarcoma of lung|pulmonary leiomyosarcoma											DOID:5265|NCIT:C5667|UMLS:C1334448																		owl:Class
MONDO:0010679	biolink:NamedThing	Duchenne muscular dystrophy	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.	mondoexuq1wtf	Duchenne muscular dystrophy|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|muscular dystrophy, Duchenne|DMD|severe dystrophinopathy, Duchenne type|muscular dystrophy, Duchenne type											OMIM:310200|DOID:11723|ICD10:G71.0|NCIT:C75482|MedDRA:10013801|GARD:0006291|Orphanet:98896|MESH:D020388|SCTID:76670001|UMLS:C0013264														https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy				owl:Class
MONDO:0001303	biolink:NamedThing	abnormal pupillary function		mondoexuq1wtf	abnormal pupillary function|abnormal pupillary function (disease)		abnormal pupillary function (disease)									ICD10:H57.09|ICD9:379.49|HP:0007686|COHD:437295|ICD9:379.40|DOID:11518|SCTID:72124005																		owl:Class
MONDO:0003574	biolink:NamedThing	external ear cancer	A malignant neoplasm involving the external ear.	mondoexuq1wtf	malignant external ear neoplasm|cancer of external ear|malignant neoplasm of external ear|malignant tumor of external Ear|malignant neoplasm of the external Ear|malignant neoplasm of external Ear|malignant tumor of the external Ear|malignant neoplasm of the external ear|malignant external Ear neoplasm|malignant external Ear tumor|external ear cancer											SCTID:277156006|NCIT:C4653|DOID:5665|UMLS:C0349576																		owl:Class
MONDO:0003741	biolink:NamedThing	juvenile type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.	mondoexuq1wtf	juvenile granulosa cell tumour|juvenile granulosa cell tumor (morphologic abnormality)|juvenile type granulosa cell neoplasm|juvenile granulosa cell tumor|juvenile type granulosa cell tumor											UMLS:C0334403|UMLS:C1515285|NCIT:C39947|DOID:6032																		owl:Class
MONDO:0010275	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Bieganski type	Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.	mondoexuq1wtf	LKMCD|leukoencephalopathy with metaphyseal chondrodysplasia|spondyloepimetaphyseal dysplasia x-linked with mental deterioration|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|SEMD X-linked with mental deterioration|SEMD, X-linked, with mental deterioration											OMIM:300232|ICD10:G11.4|ICD10:Q77.7|Orphanet:83629|MESH:C567065|GARD:0004891|UMLS:C1846148|OMIM:300660|Orphanet:168448|MESH:C536671																		owl:Class
MONDO:0016239	biolink:NamedThing	cystinosis	Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.	mondoexuq1wtf	cystine disease|Cystinoses|Protein defect of cystin transport|cystine diathesis|cystine storage disease											ICD10:E72.04|UMLS:CN035091|UMLS:C0010690|DOID:1064|SCTID:190681003|GARD:0006236|MESH:D003554|Orphanet:213|MedDRA:10011777|ICD10:E72.0|NCIT:C2976														https://rarediseases.info.nih.gov/diseases/6236/cystinosis				owl:Class
MONDO:0054551	biolink:NamedThing	avascular necrosis of femoral head, primary, 2		mondoexuq1wtf	ANFH2|avascular necrosis of femoral head, primary, 2											OMIM:617383																		owl:Class
MONDO:0021165	biolink:NamedThing	Paget disease	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.	mondoexuq1wtf	Paget cell neoplasm|Paget disease|Paget's cell neoplasm|Paget's disease											NCIT:C7073																		owl:Class
MONDO:0011741	biolink:NamedThing	hirschsprung disease, susceptibility to, 6		mondoexuq1wtf	HSCR6|Hirschsprung disease, susceptibility to, 6											OMIM:606874																		owl:Class
MONDO:0032872	biolink:NamedThing	ciliary dyskinesia, primary, 42		mondoexuq1wtf	Ciliary Dyskinesia, Primary, 42, Without Situs Inversus|CILD42|CILIARY DYSKINESIA, PRIMARY, 42											OMIM:618695																		owl:Class
MONDO:0011320	biolink:NamedThing	radioulnar synostosis-microcephaly-scoliosis syndrome	Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	mondoexuq1wtf	radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|GiuffrC)-Tsukahara syndrome|Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|Giuffré-Tsukahara syndrome|Giuffre-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation											Orphanet:3268|UMLS:C1863881|GARD:0000394|OMIM:603438																		owl:Class
MONDO:0007414	biolink:NamedThing	Gorham-Stout disease	Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.	mondoexuq1wtf	Gorham syndrome|Gorham disease|osteolysis, massive|osteolysis massive|vanishing bone disease|Gorham-Stout disease|cystic angiomatosis of bone diffuse|idiopathic massive osteolysis|progressive massive osteolysis|cystic angiomatosis of bone, diffuse											MedDRA:10071283|ICD10:M89.5|GARD:0006542|OMIM:123880|ICD9:733.99|Orphanet:73|SCTID:1515008																		owl:Class
MONDO:0004404	biolink:NamedThing	refractory precursor T-lymphoblastic lymphoma/leukemia	T-lymphoblastic leukemia/lymphoma resistant to treatment	mondoexuq1wtf	refractory T lymphoblastic leukemia/lymphoma|refractory precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia refractory											NCIT:C8696|UMLS:C0854859|DOID:7936																		owl:Class
MONDO:0015036	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type C	Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	mondoexuq1wtf												UMLS:C4274992|UMLS:CN228902|Orphanet:100013|ICD10:Q04.3|SCTID:715820004																		owl:Class
MONDO:0019129	biolink:NamedThing	global developmental delay-osteopenia-ectodermal defect syndrome	This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.	mondoexuq1wtf												Orphanet:73223|SCTID:717813005|ICD10:Q87.8|UMLS:CN227576																		owl:Class
MONDO:0006211	biolink:NamedThing	fibrous hamartoma of infancy	A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.	mondoexuq1wtf	infantile fibrous hamartoma|fibrous hamartoma of infancy|fibrous hamartoma											EFO:1000257|SCTID:56364004|UMLS:C0265979|NCIT:C3942|ICD9:215.9																		owl:Class
MONDO:0005174	biolink:NamedThing	acute hypotension	Acute form of hypotension (disease).	mondoexuq1wtf	acute hypotension (disease)|hypotension (disease), acute											EFO:0002497																		owl:Class
MONDO:0018861	biolink:NamedThing	Zellweger-like syndrome without peroxisomal anomalies	Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	mondoexuq1wtf	AHN-Lerman-Sagie syndrome											Orphanet:50812|UMLS:CN205183|SCTID:718880003|UMLS:C4305104|ICD10:Q87.8																		owl:Class
MONDO:0020585	biolink:NamedThing	anemia due to erythrocyte enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.	mondoexuq1wtf	anemia due to erythrocyte enzyme disorder											UMLS:C4329304|NCIT:C131630																		owl:Class
MONDO:0014567	biolink:NamedThing	glutamate pyruvate transaminase 2 deficiency		mondoexuq1wtf	postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|mental retardation, autosomal recessive 49|mental retardation, autosomal recessive type 49|MRT49|GPT2 deficiency											Orphanet:477673|OMIM:616281																		owl:Class
MONDO:0003944	biolink:NamedThing	endobronchial leiomyoma	A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	endobronchial leiomyoma|bronchus lung leiomyoma|lung leiomyoma of bronchus											UMLS:C1333386|NCIT:C5661|DOID:6608																		owl:Class
MONDO:0001779	biolink:NamedThing	vaginal squamous papilloma	A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.	mondoexuq1wtf	vagina squamous papilloma|squamous papilloma of vagina|vaginal squamous papilloma|squamous papilloma of the vagina											NCIT:C6374|UMLS:C1336943|DOID:137																		owl:Class
MONDO:0004518	biolink:NamedThing	anterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.	mondoexuq1wtf	anterior urethra malignant neoplasm|malignant tumor of the anterior urethra|malignant tumor of anterior urethra|anterior urethral malignant neoplasm|anterior urethral cancer|malignant neoplasm of anterior urethra|anterior urethra malignant tumor|malignant neoplasm of the anterior urethra|anterior urethral malignant tumor											DOID:8272|UMLS:C0279930|NCIT:C7641																		owl:Class
MONDO:0005921	biolink:NamedThing	Plasmodium vivax malaria	Malaria resulting from infection by Plasmodium vivax.	mondoexuq1wtf	malaria by Plasmodium vivax|vivax malaria											ICD10:B51.9|SCTID:27052006|EFO:0007445|MESH:D016780|ICD9:084.1|UMLS:C0024537|DOID:12978|ICD10:B51|COHD:433960|NCIT:C34800																		owl:Class
MONDO:0002578	biolink:NamedThing	botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	mondoexuq1wtf	botryoid sarcoma (morphologic abnormality)|sarcoma botryoides|botryoid sarcoma|botryoid-type embryonal rhabdomyosarcoma											ICD9:171.9|SCTID:404052009|UMLS:C1306573|UMLS:C1306574|DOID:3255|GARD:0009398|NCIT:C9150																		owl:Class
MONDO:0009446	biolink:NamedThing	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	mondoexuq1wtf	Passwell-Goodman-Siprkowski syndrome|ichthyosis, mental retardation, dwarfism and renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment|ichthyosis intellectual deficit dwarfism renal impairment											MESH:C536274|UMLS:C1855787|OMIM:242530|GARD:0004641|Orphanet:2278																		owl:Class
MONDO:0020012	biolink:NamedThing	systemic or rheumatic disease		mondoexuq1wtf	rare systemic or rheumatologic disease					Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs						UMLS:CN206945|Orphanet:98023														https://github.com/monarch-initiative/mondo/issues/3570				owl:Class
MONDO:0012163	biolink:NamedThing	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.	mondoexuq1wtf	autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive					Editor note: check relationship to sibs						ICD10:D81.2|DOID:0090014|UMLS:C1837028|OMIM:608971|MESH:C563822																		owl:Class
MONDO:0020294	biolink:NamedThing	atrial defect and interatrial communication		mondoexuq1wtf	rare atrial defect and interatrial communication|atrial defect and interauricular communication											ICD10:Q21.1|Orphanet:98727																		owl:Class
MONDO:0009724	biolink:NamedThing	nail-patella-like renal disease	Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.	mondoexuq1wtf	glomerular basement Membrane disease, nail-patella syndrome type|nail patella like renal disease|nail-patella-like renal disease|Salcedo syndrome											SCTID:236527004|UMLS:C0403548|OMIM:256020|GARD:0000321|MESH:C537228|ICD9:756.89|Orphanet:2613																		owl:Class
MONDO:0021484	biolink:NamedThing	benign neoplasm of maxillary sinus	A benign neoplasm that involves the maxillary sinus.	mondoexuq1wtf	benign maxillary sinus neoplasm|benign tumor of maxillofacial sinus|benign maxillary antrum tumor|benign tumor of maxillary antrum|benign tumor of the maxillary sinus|benign neoplasm of the maxillary sinus|benign tumor of the maxillary antrum|benign maxillary sinus tumor|benign neoplasm of the maxillary antrum|maxillary sinus benign neoplasm|benign neoplasm of the maxillofacial sinus|benign tumor of maxillary sinus|benign neoplasm of maxillofacial sinus|benign maxillofacial sinus tumor|benign maxillary antrum neoplasm|benign maxillofacial sinus neoplasm|benign neoplasm of maxillary antrum|benign tumor of the maxillofacial sinus											ICD9:212.0|UMLS:C0345666|SCTID:92211008|NCIT:C4414																		owl:Class
MONDO:0012568	biolink:NamedThing	osteoarthritis susceptibility 4		mondoexuq1wtf	osteoarthritis susceptibility 4|osteoarthritis, generalized, without dysplasia|OS4											OMIM:610839|UMLS:C1835815																		owl:Class
MONDO:0001145	biolink:NamedThing	total third-nerve palsy		mondoexuq1wtf	total third nerve palsy|third nerve palsy with pupil involved|third or oculomotor nerve palsy, total											SCTID:194119004|ICD9:378.52|DOID:10866|UMLS:C0271371																		owl:Class
MONDO:0007422	biolink:NamedThing	keratoderma hereditarium mutilans		mondoexuq1wtf	mutilating keratoderma plus deafness|mutilating keratoderma|KHM|Vohwinkel syndrome|mutilating keratoderma of Vohwinkel|keratoderma hereditarium mutilans|VOWNKL|PPK mutilans and deafness|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes											ICD9:757.39|DOID:0111339|ICD10:Q82.8|Orphanet:494|OMIM:124500|GARD:0003092|MESH:C536457|SCTID:24559001																		owl:Class
MONDO:0018628	biolink:NamedThing	HIV-associated cancer		mondoexuq1wtf	HIV-related cancer											Orphanet:443291|UMLS:CN237671																		owl:Class
MONDO:0014368	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 10		mondoexuq1wtf	CMM10|melanoma, cutaneous malignant, susceptibility to, type 10|melanoma, cutaneous malignant, susceptibility to, 10|susceptibility to cutaneous malignant melanoma 10											OMIM:615848																		owl:Class
MONDO:0016689	biolink:NamedThing	gemistocytic astrocytoma	A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)	mondoexuq1wtf	gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytoma|gemistocytic astrocytic tumor|Gemistocytoma											UMLS:C0334581|NCIT:C4321|DOID:7005|ICDO:9411/3|ICD10:C71.9|Orphanet:251604																		owl:Class
MONDO:0009478	biolink:NamedThing	combined immunodeficiency due to DOCK8 deficiency	Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).	mondoexuq1wtf	HIES autosomal recessive|Cid due to DOCK8 deficiency|DOCK8 deficiency|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|hyper Ig E syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|hyper-IgE recurrent infection syndrome, autosomal recessive|DOCK8 immunodeficiency syndrome|dedicator of cytokinesis 8 deficiency|hyper-IgE syndrome, autosomal recessive|HIES, autosomal recessive|AR hyperimmunoglobulin E syndrome|autosomal recessive hyper IgE syndrome|AR-HIES											OMIM:243700|NCIT:C126343|GARD:0002816|Orphanet:217390|ICD10:D81.1|UMLS:C1968689														https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome				owl:Class
MONDO:0022858	biolink:NamedThing	continuous spike-wave during slow sleep syndrome		mondoexuq1wtf												GARD:0001513														https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome				owl:Class
MONDO:0007176	biolink:NamedThing	helicoid peripapillary chorioretinal degeneration	Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.	mondoexuq1wtf	SCRA|atrophia areata|helicoidal peripapillary chorioretinal Degeneration|SVEINSSON chorioretinal atrophy|Sveinsson chorioretinal atrophy|peripapillary chorioretinal Degeneration, Icelandic type											DOID:0111228|Orphanet:86813|ICD10:H31.2|MESH:C566236|UMLS:C1862382|OMIM:108985|SCTID:724384008																		owl:Class
MONDO:0018021	biolink:NamedThing	hypotrichosis-deafness syndrome		mondoexuq1wtf												ICD10:H90.5|Orphanet:330029|UMLS:CN204237																		owl:Class
MONDO:0016035	biolink:NamedThing	Nelson syndrome	A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.	mondoexuq1wtf	Nelson's syndrome|dermal Ridges|Ridges-off-the-end syndrome											GARD:0007170|DOID:4968|NCIT:C84917|MESH:D009347|UMLS:C0027577|ICD10:E24.1|MESH:C531754|SCTID:43019009|Orphanet:199244|MedDRA:10028913														https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome				owl:Class
MONDO:0012150	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 2		mondoexuq1wtf	attention deficit-hyperactivity disorder, susceptibility to, 2|Adhd2|attention Deficit-hyperactivity disorder, susceptibility to, type 2											OMIM:608904																		owl:Class
MONDO:0010294	biolink:NamedThing	X-linked severe congenital neutropenia	This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	mondoexuq1wtf	Xln|severe congenital neutropenia X-linked|neutropenia, severe congenital, X-linked|SCNX|severe congenital neutropenia, X-linked											ICD10:D70|Orphanet:86788|OMIM:300299|GARD:0003981|MESH:C564539|UMLS:C1845987|SCTID:718882006														https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked				owl:Class
MONDO:0011653	biolink:NamedThing	thyroid cancer, nonmedullary, 3		mondoexuq1wtf	thyroid cancer, nonmedullary, 1, formerly|NMTC3|thyroid cancer, nonmedullary, 3|thyroid cancer, nonmedullary, 1											UMLS:C1853488|OMIM:606240																		owl:Class
MONDO:0016790	biolink:NamedThing	tricarboxylic acid cycle disorder	An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.	mondoexuq1wtf	TCA cycle disorder|citric acid cycle disorder|inborn error of tricarboxylic acid cycle|inborn tricarboxylic acid cycle disorder|Krebs cycle disorder|rare inborn error of tricarboxylic acid cycle											ICD10:E88.8|Orphanet:254749|UMLS:CN227000																		owl:Class
MONDO:0021962	biolink:NamedThing	baetz-greenwalt syndrome		mondoexuq1wtf	hypoplastic right-sided heart complex											UMLS:C2931615|GARD:0009216|MESH:C537795														https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome				owl:Class
MONDO:0060455	biolink:NamedThing	X-linked congenital hemolytic anemia		mondoexuq1wtf	hemolytic anemia, congenital, X-linked											OMIM:301015																		owl:Class
MONDO:0023194	biolink:NamedThing	frints de Smet Fabry Fryns syndrome		mondoexuq1wtf	Symbrachydactyly of the hand and foot											GARD:0001680|MESH:C538062														https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome				owl:Class
MONDO:0003502	biolink:NamedThing	ureter squamous cell carcinoma	A rare squamous cell carcinoma that arises from the ureter.	mondoexuq1wtf	epidermoid carcinoma of the ureter|squamous cell carcinoma of ureter|ureteral squamous cell carcinoma|ureter epidermoid carcinoma|epidermoid carcinoma of ureter|squamous cell carcinoma of the ureter|ureter squamous cell carcinoma|ureteral epidermoid carcinoma											DOID:5539|NCIT:C6154|UMLS:C1336879																		owl:Class
MONDO:0002155	biolink:NamedThing	cholecystitis	An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.	mondoexuq1wtf	acute on chronic cholecystitis|acalculous cholecystitis|gallstone cholecystitis|inflammation of gall bladder|chronic cholecystitis|acute and chronic cholecystitis|gall bladder inflammation|acute cholecystitis											COHD:192956|SCTID:20824003|MESH:D002764|ICD10:K81.9|GARD:0000030|ICD10:K81|ICD9:575.11|NCIT:C34465|ICD9:575.10|DOID:1949																		owl:Class
MONDO:0004789	biolink:NamedThing	cholangitis	An acute or chronic inflammatory process affecting the biliary tract.	mondoexuq1wtf	cholangitis|biliary tract infection|inflammation of biliary tree|biliary tree inflammation											MESH:D002761|UMLS:C0008311|COHD:195856|ICD10:K83.0|SCTID:82403002|ICD9:576.1|DOID:9446|NCIT:C26718																		owl:Class
MONDO:0034021	biolink:NamedThing	spondylodysplastic Ehlers-Danlos syndrome		mondoexuq1wtf	spondylodysplastic EDS											Orphanet:536471																		owl:Class
MONDO:0011597	biolink:NamedThing	atopic dermatitis 3	An atopic dermatitis associated with variation in the region 20p.	mondoexuq1wtf	ATOD3|dermatitis, ATOPIC, 3|dermatitis, Atopic, with asthma|atopic dermatitis type 3|atopic dermatitis with asthma											UMLS:C1853964|DOID:0110099|OMIM:605804|MESH:C565292																		owl:Class
MONDO:0012956	biolink:NamedThing	multiple sclerosis, susceptibility to, 2		mondoexuq1wtf	multiple sclerosis, susceptibility to, 2|MS2											OMIM:612594																		owl:Class
MONDO:0045001	biolink:NamedThing	cardiac ventricle disease	A disease or disorder that involves the cardiac ventricle.	mondoexuq1wtf	disorder of cardiac ventricle|disease or disorder of cardiac ventricle|disease of cardiac ventricle|cardiac ventricle disease|cardiac ventricle disease or disorder											SCTID:415991003|UMLS:C1562298																		owl:Class
MONDO:0000894	biolink:NamedThing	mucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.	mondoexuq1wtf												DOID:0080185																		owl:Class
MONDO:0002722	biolink:NamedThing	olfactory nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.	mondoexuq1wtf	olfactory nerve neoplasms|olfactory neural neoplasm|tumor of first cranial nerve|neoplasms, olfactory nerve|olfactory neural tumor|neoplasm of the olfactory nerve|cranial nerve I neoplasms|tumor of the olfactory nerve|neoplasms, cranial nerve I|neoplasm of first cranial nerve|olfactory nerve tumor|neoplasm of the first cranial nerve|tumor of olfactory nerve|first cranial nerve neoplasms|olfactory nerve neoplasm|olfactory nerve neoplasm (disease)|tumor of the first cranial nerve|neoplasm of olfactory nerve|first cranial nerve tumor|first cranial nerve neoplasm											DOID:8256|SCTID:126967000|NCIT:C5121|UMLS:C0346319|DOID:366|ICD9:239.7																		owl:Class
MONDO:0011371	biolink:NamedThing	hydroa vacciniforme, familial	An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary hydroa vacciniforme|hydroa vacciniforme, familial|familial hydroa vacciniforme											UMLS:C1863533|OMIM:603794|GARD:0010079|MESH:C536077														https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial				owl:Class
MONDO:0009836	biolink:NamedThing	pancreatitis, sclerosing cholangitis, and sicca complex		mondoexuq1wtf	pancreatitis, sclerosing cholangitis, and sicca complex											OMIM:260480|UMLS:C1850080|MESH:C564906																		owl:Class
MONDO:0010534	biolink:NamedThing	X-linked spinocerebellar ataxia type 4	Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.	mondoexuq1wtf	ataxia-dementia syndrome, X-linked|ataxia-dementia syndrome X-linked|X-linked ataxia-dementia syndrome|SCAX4|Scax4|spinocerebellar ataxia X-linked type 4|spinocerebellar ataxia, X-linked type 4|spinocerebellar ataxia, X-linked 4											OMIM:301840|ICD10:G11.1|GARD:0009980|MESH:C537316|SCTID:719818007|Orphanet:85292|UMLS:C1844933														https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4				owl:Class
MONDO:0004709	biolink:NamedThing	occipital lobe neoplasm	A neoplasm involving a occipital lobe.	mondoexuq1wtf	tumor of occipital lobe|neoplasm of the occipital lobe|occipital lobe neoplasm (disease)|malignant neoplasm of occipital lobe|occipital lobe neoplasm|tumor of the occipital lobe|neoplasm of occipital lobe|occipital lobe tumor											NCIT:C5574|DOID:910|UMLS:C0153638|UMLS:C1263889|SCTID:126957005|ICD10:C71.4|ICD9:191.4																		owl:Class
MONDO:0009324	biolink:NamedThing	Hartnup disease	Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).	mondoexuq1wtf	neutral amino acid transport defect|aminoaciduria, Hartnup type|neutral 1 amino acid transport defect|Hartnup disorder|deficiency of tryptophan oxygenase|HND|Hartnup disease											Orphanet:2116|MedDRA:10019165|NCIT:C84748|SCTID:80902009|DOID:1060|MESH:D006250|OMIM:234500|ICD10:E72.0|GARD:0006569|UMLS:C0018609|ICD10:E72.02														https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease				owl:Class
MONDO:0009206	biolink:NamedThing	factor V and factor VIII, combined deficiency of, type 1	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.	mondoexuq1wtf	factor V and factor VIII, combined deficiency of, 1|familial multiple coagulation Factor deficiency 1|multiple coagulation Factor deficiency 1|F5F8D1|LMAN1 combined deficiency of factor V and factor VIII|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor 5 and Factor VIII, combined deficiency of, 1|FMFD 1											SCTID:84048006|OMIM:227300																		owl:Class
MONDO:0020437	biolink:NamedThing	atrial septal defect, ostium primum type		mondoexuq1wtf	ASD, ostium primum type|atrial septal defect ostium primum|ostium primum ASD|ASD ostium primum type											MESH:C548006|ICD10:Q21.2|GARD:0010695|Orphanet:99106																		owl:Class
MONDO:0010101	biolink:NamedThing	Teebi-Shaltout syndrome	Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	mondoexuq1wtf	Teebi Shaltout syndrome|Teebi-Shaltout syndrome|TBSH|craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage											Orphanet:3291|UMLS:C1848912|GARD:0005125|OMIM:272950|MESH:C536950														https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome				owl:Class
MONDO:0100281	biolink:NamedThing	macroglobulinemia, Waldenstrom, 1		mondoexuq1wtf	macroglobulinemia, Waldenstrom, somatic|WM1|macroglobulinemia, waldenstrom, susceptibility to, 1							http://orcid.org/0000-0001-5208-3432				OMIM:153600																		owl:Class
MONDO:0002658	biolink:NamedThing	iris cancer	A malignant neoplasm involving the iris.	mondoexuq1wtf	cancer of iris|malignant tumor of the iris|malignant iris neoplasm|malignant neoplasm of the iris|iris cancer|tumor of the iris|malignant neoplasm of iris|malignant tumor of iris|malignant iris tumor											NCIT:C4554|EFO:1000996|SCTID:188264002|DOID:3478|UMLS:C0346372																		owl:Class
MONDO:0017162	biolink:NamedThing	imperforate oropharynx-costo vetebral anomalies syndrome	Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	mondoexuq1wtf	imperforate oropharynx-costo vetebral anomalies|imperforate oropharynx-costovertebral anomalies syndrome|Seghers syndrome											GARD:0002989|Orphanet:2759|UMLS:CN202584																		owl:Class
MONDO:0019259	biolink:NamedThing	classic phenylketonuria	Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.	mondoexuq1wtf	classic PKU											MedDRA:10034875|ICD10:E70.0|Orphanet:79254																		owl:Class
MONDO:0009186	biolink:NamedThing	epilepsy, photogenic, with spastic diplegia and intellectual disability		mondoexuq1wtf	epilepsy, photogenic, with spastic diplegia and mental retardation|epilepsy, photogenic, with spastic diplegia and intellectual disability											UMLS:C1856931|OMIM:226800|MESH:C565587																		owl:Class
MONDO:0008292	biolink:NamedThing	punctate palmoplantar keratoderma type 2	Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.	mondoexuq1wtf	punctate palmoplantar keratoderma type II|palmoplantar keratoderma, punctate type II|porokeratosis punctata palmaris Et plantaris|type 2 punctate PPK|keratoderma palmoplantar, punctate type 2|PPKP2|PPPP|punctate palmoplantar hyperkeratosis type 2											GARD:0004439|Orphanet:79502|DOID:0080213|OMIM:175860|SCTID:765096001|UMLS:C1867982|ICD10:Q82.8																		owl:Class
MONDO:0016476	biolink:NamedThing	Beckwith-Wiedemann syndrome due to CDKN1C mutation		mondoexuq1wtf												ICD10:Q87.3|Orphanet:231120|UMLS:CN201471																		owl:Class
MONDO:0002927	biolink:NamedThing	spindle cell sarcoma	A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.	mondoexuq1wtf	spindle cell sarcoma											ICDO:8801/3|UMLS:C0205945|DOID:4235|NCIT:C27005																		owl:Class
MONDO:0011114	biolink:NamedThing	familial multiple trichoepithelioma		mondoexuq1wtf	epithelioma Adenoides Cysticum of Brooke|hereditary multiple benign cystic epithelioma|multiple familial trichoepithelioma|epithelioma, hereditary multiple benign cystic|epithelioma adenoides cysticum|trichoepithelioma multiple familial|Brooke-Fordyce Trichoepitheliomas											ICD10:D23.3|GARD:0010867|UMLS:C1275122|Orphanet:867|SCTID:403825008																		owl:Class
MONDO:0009689	biolink:NamedThing	congenital myasthenic syndrome 6	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	FIM, formerly|congenital myasthenic syndrome caused by mutation in CHAT|myasthenia, familial infantile, formerly|myasthenia gravis familial infantile 2 (formerly)|CMS6|FIMG2 (formerly)|CMS1A|CMS w/episodic apnea|CMS Ia2|congenital myasthenic syndrome type Ia2|myasthenia gravis, familial infantile, 2|congenital presynaptic myasthenic syndrome associated with episodic apnea|Cms Ia2, formerly|presynaptic congenital myasthenic syndrome 6|congenital myasthenic syndrome type 1a|myasthenia, familial infantile|FIMG2, formerly|congenital myasthenic syndrome type Ia|CMS-ea|Cms Ia2|CMS1A2|congenital myasthenic syndrome type Ia2, formerly|myasthenia familial infantile|congenital myasthenic syndrome with episodic apnea|familial infantile myasthenia gravis 2|congenital myasthenic syndrome 6, presynaptic|FIM|CMSEA|FIMG2|myasthenia gravis, familial infantile, 2, formerly|myasthenic syndrome, congenital, associated with episodic apnea|myasthenic syndrome congenital associated with episodic apnea|CHAT congenital myasthenic syndrome|CMS Ia2, formerly|congenital myasthenic syndrome type 6|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|familial infantile myasthenia|CMS1A2, formerly|myasthenic syndrome, congenital, 6, presynaptic											OMIM:254210|UMLS:C0393929|SCTID:230670003|NCIT:C132292|DOID:0110671|GARD:0009689|MESH:C535759|ICD9:358.00														https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea				owl:Class
MONDO:0008420	biolink:NamedThing	seborrheic keratosis	A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.	mondoexuq1wtf	keratosis, seborrheic|basal cell papilloma|keratosis Seborrheica											ICD9:702.1|GARD:0003108|OMIM:182000|DOID:6498|UMLS:C0022603|ICD10:L82.1|EFO:0005584|Wikipedia:Seborrheic_keratosis|ICD10:L82|MESH:D017492|NCIT:C9006																		owl:Class
MONDO:0022890	biolink:NamedThing	craniosynostosis Fontaine type		mondoexuq1wtf												GARD:0001595														https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type				owl:Class
MONDO:0019271	biolink:NamedThing	acrokeratoderma		mondoexuq1wtf												ICD10:Q82.8|Orphanet:79356																		owl:Class
MONDO:0014833	biolink:NamedThing	heart and brain malformation syndrome		mondoexuq1wtf	HBMS|heart and brain malformation syndrome; HBMS|heart and brain malformation syndrome											OMIM:616920|UMLS:C4310793																		owl:Class
MONDO:0005895	biolink:NamedThing	paragonimiasis	A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.	mondoexuq1wtf	Paragonimus westermani infection|lung fluke infection|lung fluke disease|Paragonimus westermani disease or disorder|Paragonimus westermani caused disease or disorder|infection by Paragonimus|Paragonimus westermani infectious disease|pulmonary paragonimiasis											ICD10:B66.4|GARD:0009815|DOID:10699|EFO:0007418|SCTID:30369007|MESH:D010237|ICD9:121.2|UMLS:C0030424|NCIT:C84995														https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis				owl:Class
MONDO:0030105	biolink:NamedThing	galactosemia 4		mondoexuq1wtf	Galactose Mutarotase Deficiency|galactosemia iv|GALAC4|GALACTOSEMIA IV											Orphanet:570422|OMIM:618881																		owl:Class
MONDO:0002965	biolink:NamedThing	parovarian cyst	A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).	mondoexuq1wtf	embryonic fimbrial cyst|hydatid of Morgagni|cysts, parovarian|hydatid cyst of Morgagni|Morgagni Hydatids|parovarian cyst|Morgagni hydatid|fimbrial cyst|Morgagni hydatid cyst|cyst, parovarian|cyst, Paratubal|Paratubal cyst|Morgagni hydatid cysts|cyst, fimbrial|Paratubal cysts|cysts, Paratubal|parovarian cysts											ICD10:Q50.5|DOID:4333|MESH:D010310|SCTID:64233004|UMLS:C0030584|ICD10:Q50.4																		owl:Class
MONDO:0024652	biolink:NamedThing	embryonic cyst of fallopian tube		mondoexuq1wtf	embryonic cyst of fallopian tube|cyst of mesenteric remnant											SCTID:302954008|ICD10:Q50.4																		owl:Class
MONDO:0005401	biolink:NamedThing	colonic neoplasm	A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	mondoexuq1wtf	neoplasm of colon|tumor of colon|colonic tumor|neoplasm of the colon|colon tumor|colon neoplasm|colonic neoplasm|tumor of the colon|colon neoplasm (disease)											EFO:0004288|MESH:D003110|UMLS:C0009375|NCIT:C2953																		owl:Class
MONDO:0044981	biolink:NamedThing	pseudoallergy		mondoexuq1wtf	pseudoallergy to substance											ICD9:V15.09|SCTID:609397002|UMLS:C3662273																		owl:Class
MONDO:0016249	biolink:NamedThing	hereditary site-specific ovarian cancer syndrome	Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.	mondoexuq1wtf												Orphanet:213524|UMLS:CN201037|ICD10:C56																		owl:Class
MONDO:0017106	biolink:NamedThing	retrocerebellar cyst		mondoexuq1wtf	Retrocerebellar cyst|retrocerebellar cyst (disease)|Retrocerebellar arachnoid cyst		retrocerebellar cyst (disease)									HP:0006951|Orphanet:269200																		owl:Class
MONDO:0014190	biolink:NamedThing	combined oxidative phosphorylation defect type 17	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.	mondoexuq1wtf	ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 17|COXPD17|combined oxidative phosphorylation deficiency caused by mutation in ELAC2|combined oxidative phosphorylation deficiency type 17											Orphanet:369913|DOID:0111496|ICD10:E88.8|UMLS:C3809526|OMIM:615440																		owl:Class
MONDO:0015449	biolink:NamedThing	criss-cross heart	Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.	mondoexuq1wtf	twisted atrioventricular connections|criss-cross atrioventricular relationships|superoinferior ventricles											ICD9:746.89|SCTID:253269002|ICD10:Q24.8|Orphanet:1461|MESH:D003420																		owl:Class
MONDO:0003423	biolink:NamedThing	middle ear adenoma	A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.	mondoexuq1wtf	adenoma of the middle ear|adenoma of middle ear|middle ear adenoma											NCIT:C6834|SCTID:734078009|UMLS:C1334759|DOID:5387																		owl:Class
MONDO:0021482	biolink:NamedThing	benign neoplasm of middle ear	A benign neoplasm that involves the middle ear.	mondoexuq1wtf	benign middle Ear neoplasm|benign tumor of the middle Ear|benign neoplasm of the middle Ear|benign middle Ear tumor|middle ear benign neoplasm|benign tumor of middle Ear											UMLS:C0347213|ICD9:212.0|NCIT:C4602|SCTID:92218002																		owl:Class
MONDO:0003768	biolink:NamedThing	signet ring cell variant cervical mucinous adenocarcinoma	A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.	mondoexuq1wtf	cervical mucinous adenocarcinoma, signet Ring cell variant|cervical mucinous adenocarcinoma, signet Ring cell type|signet ring mucinous carcinoma											DOID:6101|ONCOTREE:SCEMU|NCIT:C40205|UMLS:C1516424																		owl:Class
MONDO:0054860	biolink:NamedThing	deafness, autosomal recessive 110		mondoexuq1wtf	DFNB110|deafness, autosomal recessive 110											DOID:0111644|OMIM:618094																		owl:Class
MONDO:0011313	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.	mondoexuq1wtf	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2|MPPH1|Meg-PMG-Megacc syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly, polymicrogyria, mega corpus callosum syndrome											MESH:C566381|OMIM:603387																		owl:Class
MONDO:0020648	biolink:NamedThing	rubella encephalitis		mondoexuq1wtf												SCTID:192689006																		owl:Class
MONDO:0012379	biolink:NamedThing	asthma-related traits, susceptibility to, 3		mondoexuq1wtf	asthma-related traits, susceptibility to, type 3|ASRT3|asthma-related traits, susceptibility to, 3											OMIM:609958																		owl:Class
MONDO:0011937	biolink:NamedThing	peeling skin syndrome 4	Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.	mondoexuq1wtf	ichthyosis bullosa of Siemens-like|peeling skin syndrome caused by mutation in CSTA|CSTA peeling skin syndrome|PSS4|peeling skin syndrome type 4|peeling skin syndrome 4|ichthyosis, exfoliative, autosomal recessive											UMLS:C1842797|MESH:C564309|OMIM:607936|UMLS:C4225407																		owl:Class
MONDO:0017339	biolink:NamedThing	exfoliative ichthyosis	Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	mondoexuq1wtf	ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis											ICD10:Q80.8|UMLS:C1838440|Orphanet:289586																		owl:Class
MONDO:0019947	biolink:NamedThing	rippling muscle disease 2	An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.	mondoexuq1wtf	RMD2|muscular dystrophy, limb-girdle, type IC|CAV3 rippling muscle disease|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|rippling muscle disease caused by mutation in CAV3|muscular dystrophy, limb-girdle, type 1C|muscular dystrophy limb-girdle type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy|rippling muscle disease type 2|rippling muscle disease 2|limb-girdle muscular dystrophy due to caveolin-3 deficiency|LGMD1C|limb-girdle muscular dystrophy type 1C											MONDO:0011910|DOID:0060255|OMIM:606072|UMLS:C1832560|NCIT:C148325																		owl:Class
MONDO:0005355	biolink:NamedThing	coronary restenosis	Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.	mondoexuq1wtf												UMLS:C0948480|MESH:D023903|DOID:4247|EFO:0004224																		owl:Class
MONDO:0006715	biolink:NamedThing	coronary stenosis	Narrowing of the coronary artery lumen diameter.	mondoexuq1wtf	coronary artery stenosis											MESH:D023921|EFO:1000882|SCTID:233970002|UMLS:C0242231|DOID:4248|MedDRA:10011089																		owl:Class
MONDO:0020404	biolink:NamedThing	shone complex	A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.	mondoexuq1wtf	shone's syndrome (greater than 3 sites)|shone syndrome											SCTID:41371000119100|Orphanet:99063|ICD10:Q23.8|MedDRA:10066802|NCIT:C99058|UMLS:C1868705|ICD9:746.84																		owl:Class
MONDO:0012772	biolink:NamedThing	Stevenson-Carey syndrome		mondoexuq1wtf	Stevenson-Carey syndrome											MESH:C567446|UMLS:C2677763|OMIM:611961																		owl:Class
MONDO:0013352	biolink:NamedThing	intellectual disability-severe speech delay-mild dysmorphism syndrome	Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.	mondoexuq1wtf	FOXP1 related global developmental delay, intellectual disability and speech defects|mental retardation with language impairment and with or without autistic features|intellectual disability with language impairment and with or without autistic features											OMIM:613670|DOID:0111331|Orphanet:391372|UMLS:C3150923|EFO:1001500|GARD:0012501|UMLS:CN204965|ICD10:Q87.2														https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome				owl:Class
MONDO:0003089	biolink:NamedThing	extrahepatic bile duct mucoepidermoid carcinoma	A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.	mondoexuq1wtf	bile duct mucoepidermoid carcinoma|extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct|mucoepidermoid carcinoma of bile duct											DOID:4681|NCIT:C5862|UMLS:C1332552																		owl:Class
MONDO:0003047	biolink:NamedThing	thymic large cell neuroendocrine carcinoma	An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.	mondoexuq1wtf	thymus large cell carcinoma|large cell carcinoma of the Thymus|thymus large cell neuroendocrine carcinoma|thymic large cell neuroendocrine carcinoma|thymic LCNEC|large cell neuroendocrine carcinoma of Thymus|large cell neuroendocrine carcinoma of the Thymus|large cell neuroendocrine carcinoma of thymus|Thymus large cell carcinoma											NCIT:C6461|UMLS:C1334364|DOID:4553																		owl:Class
MONDO:0018942	biolink:NamedThing	macrophagic myofasciitis		mondoexuq1wtf	MMF|Macrophagic myofasciitis, childhood											ICD10:M60.8|Orphanet:592|MESH:C537829|GARD:0000176|UMLS:C2931639|SCTID:718175009														https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis				owl:Class
MONDO:0016589	biolink:NamedThing	progressive cerebello-cerebral atrophy		mondoexuq1wtf	PCCA											Orphanet:247198																		owl:Class
MONDO:0015835	biolink:NamedThing	Bicervical bicornuate uterus and blind hemivagina		mondoexuq1wtf												ICD10:Q51.1|Orphanet:180106																		owl:Class
MONDO:0008583	biolink:NamedThing	inherited torticollis	A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.	mondoexuq1wtf	inherited torticollis (disease)|congenital torticollis|torticollis, familial|congenital wry neck|torticollis, congenital|fibromatosis colli|familial torticollis|congenital muscular torticollis|torticollis|contracture of sternocleidomastoid muscle|familial spasmodic torticollis|congenital sternomastoid torticollis|congenital wryneck		inherited torticollis (disease)									HP:0000473|GARD:0004908|COHD:440814|NCIT:C4811|OMIM:189600|SCTID:268240006|SCTID:70070008|ICD9:723.5|MESH:C535425														https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis				owl:Class
MONDO:0014649	biolink:NamedThing	intellectual disability, autosomal recessive 50	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.	mondoexuq1wtf	mental retardation, autosomal recessive 50|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|intellectual disability, autosomal recessive type 50|intellectual disability, autosomal recessive 50|mental retardation, autosomal recessive type 50|MRT50|EDC3 autosomal recessive non-syndromic intellectual disability											OMIM:616460																		owl:Class
MONDO:0006051	biolink:NamedThing	postweaning multisystemic wasting syndrome	Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus.	mondoexuq1wtf												EFO:1000048																		owl:Class
MONDO:0019373	biolink:NamedThing	desmoplastic small round cell tumor	Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.	mondoexuq1wtf	desmoplastic small round cell tumor|Polyphenotypic small round cell tumor|Desmoplastic small round-cell neoplasm|desmoplastic small-round-cell tumor|DSRCT|Desmoplastic small round cell tumor|Desmoplastic small round-cell tumor|Desmoplas. small round cell tumor											MedDRA:10064581|ONCOTREE:DSRCT|Orphanet:83469|MESH:D058405|HGNC:12796|ICD10:C48.2|NCIT:C8300|UMLS:C0281508|GARD:0006265|ICDO:8806/3|EFO:1000895|MedDRA:10064587														https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor				owl:Class
MONDO:0015683	biolink:NamedThing	primary malignant peritoneal tumor		mondoexuq1wtf												Orphanet:168807|UMLS:CN200181|ICD10:C48.2|ICD10:C48.1|ICD10:C45.1																		owl:Class
MONDO:0007486	biolink:NamedThing	hereditary benign intraepithelial dyskeratosis	A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.	mondoexuq1wtf	dyskeratosis, hereditary benign intraepithelial|Witkop-Von Sallmann disease|hereditary benign corneal intraepithelial dyskeratosis|HBID|Dkbi											MESH:C562551|Orphanet:352657|SCTID:400014002|UMLS:C0265966|NCIT:C3940|ICD10:Q82.8|OMIM:127600																		owl:Class
MONDO:0011998	biolink:NamedThing	autosomal dominant slowed nerve conduction velocity	Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	mondoexuq1wtf	slowed nerve conduction velocity, autosomal dominant|SNCV											SCTID:764854006|UMLS:C1842357|OMIM:608236|Orphanet:140481|ICD10:G60.0|MESH:C564269																		owl:Class
MONDO:0000892	biolink:NamedThing	colon medullary carcinoma	A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	mondoexuq1wtf	medullary colon carcinoma|colon medullary carcinoma|medullary carcinoma of the colon											DOID:0080183|NCIT:C60641|UMLS:C1880119|ONCOTREE:CMC																		owl:Class
MONDO:0014094	biolink:NamedThing	severe congenital hypochromic anemia with ringed sideroblasts	STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	mondoexuq1wtf	severe congenital hypochromic sideroblastic anemia|AHMIO2|anemia, hypochromic microcytic, with iron overload 2|anemia, hypochromic microcytic, with iron overload type 2											UMLS:C3808920|OMIM:615234|SCTID:725463007|UMLS:C4511137|ICD10:D64.0|Orphanet:300298																		owl:Class
MONDO:0002166	biolink:NamedThing	rectum lymphoma	An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.	mondoexuq1wtf	rectum lymphoma|lymphoma of the rectum|lymphoma of rectum|rectal lymphoma|primary rectal lymphoma											NCIT:C5553|UMLS:C1335685|DOID:1988																		owl:Class
MONDO:0011492	biolink:NamedThing	mandibulofacial dysostosis syndrome, Bauru type		mondoexuq1wtf	mandibulofacial dysostosis syndrome, Bauru type											UMLS:C1858101|OMIM:604830|MESH:C565744																		owl:Class
MONDO:0002453	biolink:NamedThing	retrocochlear disease	Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.	mondoexuq1wtf												MESH:D012181|UMLS:C0035352|DOID:2889																		owl:Class
MONDO:0000507	biolink:NamedThing	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.	mondoexuq1wtf	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|pagetoid amyotrophic lateral sclerosis|inclusion body myopathy/Paget disease/frontotemporal dementia|pagetoid neuroskeletal syndrome|IBMPFD|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|limb-girdle muscular dystrophy with Paget disease of bone											GARD:0010899|SCTID:703544004|DOID:0050881|DC:0000545|Orphanet:52430|ICD10:G71.8|UMLS:C1833662|OMIMPS:167320																		owl:Class
MONDO:0019159	biolink:NamedThing	Loeffler endocarditis	Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.	mondoexuq1wtf	eosinophilic endomyocardial disease|eosinophilic endocarditis											MedDRA:10052841|DOID:396|SCTID:449829009|Orphanet:75566|NCIT:C27044|ICD10:I42.3																		owl:Class
MONDO:0003461	biolink:NamedThing	fallopian tube serous adenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.	mondoexuq1wtf	fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube|fallopian tube adenofibroma											NCIT:C40113|DOID:5478|UMLS:C1517109																		owl:Class
MONDO:0020352	biolink:NamedThing	multiple system atrophy, parkinsonian type	Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).	mondoexuq1wtf	MSA, parkinsonian type|MSA-p											UMLS:CN207200|Orphanet:98933|ICD10:G23.2																		owl:Class
MONDO:0007803	biolink:NamedThing	multiple system atrophy	Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.	mondoexuq1wtf	Shy-dragger syndrome (formerly)|multisystem atrophy|hypotension, orthostatic|susceptibility to multiple system atrophy 1|MSA|autonomic failure, Pure|Shy-Drager syndrome											GARD:0007079|EFO:1001050|Orphanet:102|OMIM:146500|UMLS:C0037019|NCIT:C84909|DOID:4752|ICD10:G90.3|MESH:D019578|UMLS:C0393571|MedDRA:10064060																		owl:Class
MONDO:0001117	biolink:NamedThing	methemoglobinemia	An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.	mondoexuq1wtf	methemoglobinemias											ICD10:D74|NCIT:C34817|UMLS:C0025637|ICD10:D74.9|MESH:D008708|ICD9:289.7|DOID:10783|COHD:432882|SCTID:38959009																		owl:Class
MONDO:0005493	biolink:NamedThing	delayed encephalopathy after acute carbon monoxide poisoning	Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event	mondoexuq1wtf												EFO:0005534																		owl:Class
MONDO:0014069	biolink:NamedThing	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome		mondoexuq1wtf	camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|Wahab syndrome|WAHAB syndrome											UMLS:C3554611|ICD10:Q87.2|Orphanet:357332|OMIM:615170																		owl:Class
MONDO:0018232	biolink:NamedThing	primary bone dysplasia with micromelia		mondoexuq1wtf	primary skeletal dysplasia with micromelia|primary osteodysplasia with micromelia											Orphanet:364536																		owl:Class
MONDO:0017511	biolink:NamedThing	split hand, unilateral	Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	mondoexuq1wtf												ICD10:Q71.6|Orphanet:295120																		owl:Class
MONDO:0011311	biolink:NamedThing	glaucoma 1, open angle, F		mondoexuq1wtf	glaucoma 1, open angle, type F|GLC1F|glaucoma 1, open angle, F|glaucoma, primary open angle, adult-onset											MESH:C566383|OMIM:603383																		owl:Class
MONDO:0016392	biolink:NamedThing	cerebellar hypoplasia-tapetoretinal degeneration syndrome	Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.	mondoexuq1wtf	cerebellar hypoplasia tapetoretinal degeneration											ICD10:Q04.3|Orphanet:2246|DOID:0070339|GARD:0001196														https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration				owl:Class
MONDO:0012432	biolink:NamedThing	Joubert syndrome 5	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.	mondoexuq1wtf	CEP290 Joubert syndrome|Joubert syndrome type 5|Joubert syndrome 5|JBTS5|Joubert syndrome caused by mutation in CEP290											OMIM:610188|UMLS:C1857780|DOID:0111000|MESH:C537688																		owl:Class
MONDO:0008039	biolink:NamedThing	tropical spastic paraparesis	Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.	mondoexuq1wtf	Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|ham|myelopathy, HTLV-1-associated|familial spastic paraparesis, HTLV-1-associated|tropical spastic paraparesis (formerly)|tropical spastic paraplegia|Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis|HTLV-1-associated myelopathy/tropical spastic paraparesis|TSP|tropical spastic paralysis|HTLV-associated myelopathy|ham/TSP|HTLV-1 associated myelopathy/tropical spastic paraparesis											DOID:321|ICD9:323.01|GARD:0008208|MESH:D015493|OMIM:159580|ICD10:G04.1|UMLS:C0030481|MedDRA:10044696|Orphanet:289326|EFO:0007527|SCTID:714279000																		owl:Class
MONDO:0021441	biolink:NamedThing	benign neoplasm of exocrine pancreas	A benign neoplasm that involves the exocrine pancreas.	mondoexuq1wtf	benign exocrine pancreas neoplasm|benign tumor of exocrine pancreas|exocrine pancreas benign neoplasm|benign exocrine pancreas tumor|benign tumor of the exocrine pancreas|benign exocrine pancreatic neoplasm|benign neoplasm of the exocrine pancreas											UMLS:C0347285|SCTID:271956003|NCIT:C4613																		owl:Class
MONDO:0043003	biolink:NamedThing	familial acanthosis nigricans	An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary acanthosis nigricans (disease)|acanthosis nigricans											UMLS:C2930792|OMIM:100600|MESH:C531598																		owl:Class
MONDO:0018392	biolink:NamedThing	male infertility with spermatogenesis disorder due to single gene mutation		mondoexuq1wtf												Orphanet:399786|ICD10:N46|GARD:0012513|UMLS:CN227340														https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation				owl:Class
MONDO:0007432	biolink:NamedThing	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		mondoexuq1wtf	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|dementia, hereditary multi-infarct type|Casil|CADASIL|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy											ICD9:447.8|ICD9:323.9|OMIMPS:125310																		owl:Class
MONDO:0016430	biolink:NamedThing	Balo concentric sclerosis	Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.	mondoexuq1wtf	diffuse cerebral sclerosis of Schilder|Balo disease|Marburg variant|Balo's concentric sclerosis|concentric demyelination|encephalitis periaxialis concentrica|Baló concentric sclerosis|Balo's disease|Tumefactive multiple sclerosis|Balo concentric sclerosis											DOID:0060215|Orphanet:228165|MedDRA:10010252|ICD10:G37.0|ICD9:341.1|ICD10:G37.5|UMLS:C0004712|GARD:0005885|ICD10:G31.81|SCTID:230380005														https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis				owl:Class
MONDO:0033622	biolink:NamedThing	spermatogenic failure 44		mondoexuq1wtf	SPGF44											OMIM:619044																		owl:Class
MONDO:0017685	biolink:NamedThing	vitamin B12-responsive methylmalonic acidemia, type cblDv2		mondoexuq1wtf	vitamin B12-responsive methylmalonic aciduria, type cblDv2											ICD10:E71.1|UMLS:CN203582|Orphanet:308442																		owl:Class
MONDO:0020138	biolink:NamedThing	ataxia with dementia		mondoexuq1wtf												Orphanet:98538																		owl:Class
MONDO:0005320	biolink:NamedThing	tibia fracture	Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.	mondoexuq1wtf	tibia bone fracture|bone fracture of tibia											SCTID:31978002|MESH:D013978|COHD:440543|EFO:0003944																		owl:Class
MONDO:0012093	biolink:NamedThing	prostate cancer, hereditary, 3		mondoexuq1wtf	prostate cancer, hereditary, 3|HPC3|prostate cancer, hereditary, type 3											UMLS:C1837595|OMIM:608656|MESH:C563883																		owl:Class
MONDO:0013805	biolink:NamedThing	intellectual disability, autosomal dominant 13	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.	mondoexuq1wtf	mental retardation, autosomal dominant type 13|autosomal dominant intellectual disability 13|intellectual disability, autosomal dominant type 13|mental retardation, autosomal dominant 13, with neuronal migration defects|intellectual disability, autosomal dominant 13, with neuronal migration defects|MRD13|intellectual disability, autosomal dominant 13|mental retardation, autosomal dominant 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant, 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|intellectual disability, autosomal dominant, 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability 13|autosomal dominant mental retardation 13											OMIM:614563|DOID:0070043|UMLS:C3281202																		owl:Class
MONDO:0002318	biolink:NamedThing	trachea leiomyoma	A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	trachea neoplasm|leiomyoma of trachea|leiomyoma of the trachea|tracheal leiomyoma|tracheal neoplasm|trachea leiomyoma|tracheal tumor											SCTID:126703006|DOID:248|UMLS:C1336772|NCIT:C6049																		owl:Class
MONDO:0009880	biolink:NamedThing	short stature-pituitary and cerebellar defects-small sella turcica syndrome	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	mondoexuq1wtf	pituitary hormone deficiency, combined, 4|short stature, pituitary and cerebellar defects, and small sella turcica|short stature, pituitary and cerebellar defects and small sella turcica|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined 4|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined with or without cerebellar defects|CPHD4											Orphanet:85442|MESH:C567492|OMIM:262700|UMLS:C2678408|GARD:0010604																		owl:Class
MONDO:0008700	biolink:NamedThing	acheiropody	Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.	mondoexuq1wtf	acheiropody, Brazilian type|acheiropodia|acheiropody|horn-Kolb syndrome|ACHP											MESH:C536014|DOID:0050603|SCTID:177504007|GARD:0000376|Orphanet:931|OMIM:200500|ICD10:Q74.8																		owl:Class
MONDO:0016604	biolink:NamedThing	dysraphism-cleft lip/palate-limb reduction defects syndrome		mondoexuq1wtf	Medeira-Dennis-Donnai syndrome|dysraphism, cleft lip/palate, limb reduction defects											ICD10:Q00.0|UMLS:CN201798|GARD:0003438|Orphanet:2476																		owl:Class
MONDO:0014784	biolink:NamedThing	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	mondoexuq1wtf	hypotonia, infantile, with psychomotor retardation|IHPMR											Orphanet:467176|UMLS:C4225196|OMIM:616816																		owl:Class
MONDO:0019907	biolink:NamedThing	ring chromosome 13	Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	mondoexuq1wtf	Ring chromosome 13 syndrome|chromosome 13 ring|R13|Ring chromosome type 13|Ring 13											SCTID:726723004|GARD:0006069|ICD10:Q93.2|Orphanet:96176|MESH:C538303														https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13				owl:Class
MONDO:0018185	biolink:NamedThing	congenital anomaly of the great veins		mondoexuq1wtf												Orphanet:363189																		owl:Class
MONDO:0012976	biolink:NamedThing	autosomal dominant nonsyndromic deafness 2B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness type 2B|DFNA2B|GJB3 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|deafness, autosomal dominant 2B|deafness, autosomal dominant type 2B|autosomal dominant deafness 2B											DOID:0110559|OMIM:612644|MESH:C567214|UMLS:C2675236|ICD10:H90.3																		owl:Class
MONDO:0020628	biolink:NamedThing	microcephaly, growth restriction, and increased sister chromatid exchange 2		mondoexuq1wtf	MGRISCE2|microcephaly, growth restriction, and increased sister chromatid exchange 2											Orphanet:508512|OMIM:618097																		owl:Class
MONDO:0016622	biolink:NamedThing	Melhem-Fahl syndrome	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	mondoexuq1wtf	Melhem Fahl syndrome|fifteen dorsal vertebrae and rib pairs											MESH:C537238|GARD:0003462|SCTID:732263008|ICD10:Q76.4|Orphanet:2482|UMLS:C2931453														https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome				owl:Class
MONDO:0022982	biolink:NamedThing	die Smulders Vles Fryns syndrome		mondoexuq1wtf												GARD:0001858														https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome				owl:Class
MONDO:0010863	biolink:NamedThing	type 1 diabetes mellitus 5	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.	mondoexuq1wtf	IDDM5|diabetes mellitus, insulin-dependent, type 5|type 1 diabetes mellitus caused by mutation in SUMO4|SUMO4 type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, 5|insulin-dependent diabetes mellitus 5											DOID:0110744|MESH:C563958|ICD10:E10|UMLS:C1838260|OMIM:600320																		owl:Class
MONDO:0003046	biolink:NamedThing	anus neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.	mondoexuq1wtf	tumor of anus|anal neoplasm|anus tumor|anal tumors|anal tumor|anus neoplasm (disease)|neoplasm of the anus|neoplasm of anus|tumor of the anus|anal neoplasms, benign and malignant|anus neoplasm											SCTID:126849006|MESH:D001005|EFO:0003835|NCIT:C2877|DOID:4551|UMLS:C0003463																		owl:Class
MONDO:0009338	biolink:NamedThing	hepatic veno-occlusive disease-immunodeficiency syndrome	Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	mondoexuq1wtf	hepatic venoocclusive disease with immunodeficiency|veno-occlusive disease and immunodeficiency syndrome|VODI syndrome|familial veno-occlusive disease with immunodeficiency|VODI|hepatic veno-occlusive disease with immunodeficiency											GARD:0010083|OMIM:235550|UMLS:C1856128|Orphanet:79124|SCTID:724361001|ICD10:K76.5|MESH:C537257														https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency				owl:Class
MONDO:0019514	biolink:NamedThing	hepatic veno-occlusive disease	Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.	mondoexuq1wtf	sinusoidal obstruction syndrome|veno-occlusive disease|hepatic Vod|liver veno-occlusive disease											DOID:0080177|NCIT:C26793|ICD9:453.89|MedDRA:10047216|MESH:D006504|GARD:0013004|UMLS:C0019156|ICD10:K76.5|SCTID:65617004|Orphanet:890														https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease				owl:Class
MONDO:0013634	biolink:NamedThing	neuropathy, hereditary sensory, type 2C	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.	mondoexuq1wtf	neuropathy, hereditary sensory, type IIC|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type 2C|HSN2C|hereditary sensory neuropathy type IIC|KIF1A hereditary sensory and autonomic neuropathy type 2											UMLS:C3280168|OMIM:614213|DOID:0070147																		owl:Class
MONDO:0004253	biolink:NamedThing	intraductal breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.	mondoexuq1wtf	breast intraductal papillomatosis|intraductal breast papillomatosis|intraductal papillomatosis of breast|intraductal papillomatosis of the breast											DOID:7511|UMLS:C1334247|NCIT:C5201																		owl:Class
MONDO:0008010	biolink:NamedThing	antigen defined by monoclonal antibody Aj9		mondoexuq1wtf	Msk1|antigen defined by monoclonal antibody Aj9											OMIM:158030																		owl:Class
MONDO:0004845	biolink:NamedThing	aphthous stomatitis	A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.	mondoexuq1wtf	canker sore|oral ulcer|aphthous ulceration|aphtha|oral aphthous ulcer|oral aphthae											GARD:0005834|DOID:9663|ICD9:528.2														https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis				owl:Class
MONDO:0005318	biolink:NamedThing	canker sore	A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.	mondoexuq1wtf	aphthous ulcer|canker sore|aphthous stomatitis											MESH:D013281|EFO:0003938|SCTID:427617000|NCIT:C62546|HP:0032154																		owl:Class
MONDO:0012817	biolink:NamedThing	Ewing sarcoma	A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.	mondoexuq1wtf	Ewings sarcoma|Ewings sarcoma-primitive neuroectodermal tumor|ES|localized Ewing's sarcoma|neuroepithelioma, peripheral|Ewing's sarcoma|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing tumor|PNET of Thoracopulmonary region|localized peripheral primitive neuroectodermal tumor|Ewing sarcoma|localized Ewing sarcoma|sarcoma, Ewing's|Ewing's tumor|localized Ewing's tumor|Ewing's family localized tumor											ICD10:C41.4|ICD10:C40.0|ICD10:C40.1|DOID:3369|ICD10:C40.3|ONCOTREE:ES|OMIM:612219|ICD10:C41.2|EFO:0000174|Orphanet:319|MESH:D012512|ICDO:9260/3|GARD:0006390|ICD10:C41.3|NCIT:C4817|ICD10:C40.2|MedDRA:10015560|UMLS:C0553580																		owl:Class
MONDO:0020419	biolink:NamedThing	pulmonary artery hypoplasia		mondoexuq1wtf	pulmonary artery hypoplasia (disease)|pulmonary artery hypoplasia		pulmonary artery hypoplasia (disease)									SCTID:54682008|ICD10:Q25.7|HP:0004971|Orphanet:99083																		owl:Class
MONDO:0005033	biolink:NamedThing	ganglioneuroma	A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.	mondoexuq1wtf	ganglioneuroma, benign|GN|ganglioneuroma (disease)|ganglioneuroma (Schwannian Stroma-dominant)|ganglioneuroma|neural Crest tumor, benign		ganglioneuroma (disease)									HP:0003005|Orphanet:251992|NIFSTD:birnlex_12617|DOID:4817|NCIT:C3049|EFO:0000500|ICDO:9490/0|ICD9:215.9|SCTID:116371000119107|UMLS:C0017075|MedDRA:10017709|ONCOTREE:GN|ICD10:D36.1																		owl:Class
MONDO:0004741	biolink:NamedThing	tyrosinemia	An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.	mondoexuq1wtf												NCIT:C98640|DOID:9275|OMIMPS:276700|ICD10:E70.21|MESH:D020176|UMLS:C0268483|SCTID:190694001|ICD9:270.2																		owl:Class
MONDO:0007504	biolink:NamedThing	thickened earlobes-conductive deafness syndrome	Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	mondoexuq1wtf	earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher-Hirt syndrome|Escher Hirt syndrome											ICD10:H90.0|Orphanet:2405|OMIM:128980|SCTID:722476007|GARD:0002195																		owl:Class
MONDO:0010882	biolink:NamedThing	aphalangy-syndactyly-microcephaly syndrome	Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	mondoexuq1wtf	Aphalangia, partial, with syndactyly and Duplication of metatarsal 4|Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia partial with syndactyly and duplication of metatarsal IV											ICD10:Q87.2|GARD:0000748|OMIM:600384|UMLS:C1838161|MESH:C563942|Orphanet:1113														https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv				owl:Class
MONDO:0015265	biolink:NamedThing	bronchiolitis obliterans with obstructive pulmonary disease	Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.	mondoexuq1wtf	obliterative bronchiolitis|bronchiolitis obliterans|bo|BOOP|bronchiolitis exudativa|constrictive bronchiolitis|organizing pneumonia|organized pneumonia|bronchiolitis fibrosa obliterans					Editor note: TODO check this					MONDO:0005681	UMLS:CN199179|SCTID:40100001|NCIT:C62580|Orphanet:1303|EFO:0007183|ICD9:466.19|ICD10:J44.8|HP:0011946|ICD9:491.8|DOID:2799|GARD:0009551																		owl:Class
MONDO:0001120	biolink:NamedThing	chronic frontal sinusitis	Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	mondoexuq1wtf	frontal sinusitis, chronic											SCTID:60130002|UMLS:C0008683|NCIT:C34473|COHD:139841|ICD9:473.1|DOID:10790|ICD10:J32.1																		owl:Class
MONDO:0010943	biolink:NamedThing	schizophrenia 4	A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.	mondoexuq1wtf	schizophrenia type 4|schizophrenia 4|schizophrenia susceptibility locus, chromosome 22Q11-related|SCZD4											OMIM:600850|UMLS:C1833247|DOID:0070080																		owl:Class
MONDO:0003434	biolink:NamedThing	vaginal adenoma	A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.	mondoexuq1wtf	vagina adenoma|vaginal adenoma											DOID:5402|UMLS:C1519913|NCIT:C40256																		owl:Class
MONDO:0012780	biolink:NamedThing	celiac disease, susceptibility to, 11		mondoexuq1wtf	celiac disease, susceptibility to, 11|CELIAC11|gluten-sensitive enteropathy, susceptibility to, 11											OMIM:612009																		owl:Class
MONDO:0022513	biolink:NamedThing	atrophoderma of Pierini and Pasini	Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.	mondoexuq1wtf	idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini											GARD:0005866|ICD10:L90.3|SCTID:711524008														https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini				owl:Class
MONDO:0021762	biolink:NamedThing	acrocoxomesomelic dysplasia	A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.	mondoexuq1wtf	acro-coxo-mesomelic dwarfism											GARD:0000483														https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia				owl:Class
MONDO:0012331	biolink:NamedThing	migraine with aura, susceptibility to, 9		mondoexuq1wtf	Mgr9|migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9											OMIM:609670																		owl:Class
MONDO:0008407	biolink:NamedThing	neurogenic scapuloperoneal syndrome, Kaeser type		mondoexuq1wtf	scapuloperoneal syndrome, neurogenic, Kaeser type|SCPNK|scapuloperoneal syndrome, neurogenic type, of Kaeser|stark-Kaeser syndrome|Kaeser syndrome											ICD10:G12.1|Orphanet:85146|MESH:C566695|DOID:0111551|GARD:0010312|OMIM:181400|UMLS:C1867005														https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type				owl:Class
MONDO:0009190	biolink:NamedThing	epiphyseal dysplasia of femoral head, myopia, and deafness		mondoexuq1wtf	epiphyseal dysplasia of femoral head, myopia, and deafness											OMIM:226950|UMLS:C1856918|MESH:C565585																		owl:Class
MONDO:0009399	biolink:NamedThing	hyperphosphatemia, polyuria, and seizures		mondoexuq1wtf	hyperphosphatemia, polyuria, and seizures											OMIM:239350|MESH:C565494|UMLS:C1855922																		owl:Class
MONDO:0009191	biolink:NamedThing	Lowry-Wood syndrome	Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	mondoexuq1wtf	epiphyseal dysplasia, microcephaly, and NYSTAGMUS|Lowry Wood syndrome|Lowry-Wood syndrome|LWS|epiphyseal dysplasia-microcephaly-nystagmus syndrome|epiphyseal dysplasia, microcephaly and nystagmus											UMLS:C0796021|MESH:C537038|SCTID:721975004|GARD:0000264|ICD10:Q87.5|OMIM:226960|MedDRA:10062600|Orphanet:1824														https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome				owl:Class
MONDO:0016442	biolink:NamedThing	elastoma		mondoexuq1wtf	Weidman juvenile elastoma|juvenile elastoma without osteopoikilosis|Nevus elasticus											Orphanet:228254|UMLS:C0473583|ICD9:215.9|SCTID:239140003																		owl:Class
MONDO:0005881	biolink:NamedThing	oligohydramnios	A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.	mondoexuq1wtf	oligohydramnios (disease)|delivered oligohydramnios|oligohydramnios - delivered|antepartum oligohydramnios|oligohydramnios		oligohydramnios (disease)			Consider obsoleting as represents a finding						SCTID:59566000|ICD10:O41.0|EFO:0007401|MESH:D016104|ICD9:658.00|DOID:12215|ICD9:658.0|ICD10:O41.00|HP:0001562																		owl:Class
MONDO:0005814	biolink:NamedThing	intestinal cancer	A malignant neoplasm involving the intestine	mondoexuq1wtf	malignant intestine neoplasm|intestinal cancer|malignant tumor of the intestine|malignant intestine tumor|malignant intestinal tumors|cancer of intestine|malignant intestinal tumor|malignant neoplasm of intestine|malignant intestinal neoplasm|intestinal neoplasms, malignant|malignant intestinal neoplasms|intestine cancer|bowel cancer|cancer of the intestine|malignant neoplasm of the intestine|malignant tumor of intestine|intestinal tumors, malignant											DOID:10155|ICD10:C26.0|SCTID:363508008|EFO:0007330|ICD9:159.0|MESH:D007414|NCIT:C4572|UMLS:C0346627																		owl:Class
MONDO:0009454	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 1	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.	mondoexuq1wtf	centromeric instability, immunodeficiency syndrome|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|immunodeficiency syndrome, variable|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|ICF syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|ICF1|immunodeficiency-centromeric instability-facial anomalies syndrome 1											DOID:0090008|ICD10:D84.8|NCIT:C156430|OMIM:242860																		owl:Class
MONDO:0000133	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome	The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.	mondoexuq1wtf	ICF syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies|CIID											ICD10:D84.8|DOID:0090007|SCTID:234633000|GARD:0002945|UMLS:CN201349|Orphanet:2268|MESH:C537362|DC:0000544|OMIMPS:242860																		owl:Class
MONDO:0006735	biolink:NamedThing	duodenogastric reflux	Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.	mondoexuq1wtf	duodenogastric reflux (finding)											DOID:4071|UMLS:C0013299|EFO:1000909|MESH:D004383|MedDRA:10060865																		owl:Class
MONDO:0010325	biolink:NamedThing	X-linked intellectual disability, Stocco dos Santos type		mondoexuq1wtf	SDSX|mental retardation, Stocco dos Santos type|mental retardation, X-linked, Stocco Dos Santos type|intellectual disability, Stocco dos Santos type|Stocco dos Santos syndrome|Stocco DOS Santos X-linked mental retardation syndrome|Stocco DOS Santos X-linked intellectual disability syndrome|intellectual disability, X-linked, Stocco Dos Santos type|Sdsx											GARD:0001133|MESH:C537495|UMLS:C1845530|OMIM:300434|Orphanet:85288|SCTID:718910006|ICD10:Q87.8																		owl:Class
MONDO:0018773	biolink:NamedThing	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome		mondoexuq1wtf												Orphanet:476093|UMLS:CN776822																		owl:Class
MONDO:0033643	biolink:NamedThing	inflammatory bowel disease 30		mondoexuq1wtf	IBD30											OMIM:619079																		owl:Class
MONDO:0022839	biolink:NamedThing	congenital human immunodeficiency virus		mondoexuq1wtf	neonatal HIV|neonatal human immunodeficiency virus|congenital HIV											GARD:0010328|UMLS:C0520783														https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus				owl:Class
MONDO:0043862	biolink:NamedThing	voice disorders	A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.	mondoexuq1wtf	neurologic voice disorder|neurologic dysphonia|voice disorder											NCIT:C3441|SCTID:71941009|MESH:D014832																		owl:Class
MONDO:0024275	biolink:NamedThing	amebic dysentery	Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.	mondoexuq1wtf	dysenteries, amoebic|dysenteries, amebic|dysentery, amoebic|amoebic dysenteries|Colitides, amebic|Colitides, amoebic|amebic colitis|intestinal Amebiases|amoebic colitis|colitis, amoebic|amoebic dysentery due to Entamoeba histolytica|Amebiases, intestinal|amoebiasis, intestinal|entamoebiasis, intestinal|Entamoebiases, intestinal|intestinal Entamoebiases|intestinal amoebiasis|amebic colitides|amebiasis, intestinal|intestinal entamoebiasis|intestinal amebiasis|colitis, amebic|amebic dysentery|amoebic dysentery|amebic dysenteries|amoebic Colitides|intestinal Amoebiases|amoebiasis due to Entamoeba histolytica|amoebiases, intestinal											GARD:0000652|MESH:D004404|NCIT:C34558																		owl:Class
MONDO:0030005	biolink:NamedThing	epilepsy, early-onset, with or without developmental delay		mondoexuq1wtf	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY|epilepsy, early-onset, with or without developmental delay|EPEDD											OMIM:618832																		owl:Class
MONDO:0011282	biolink:NamedThing	tumor suppressor gene on chromosome 11		mondoexuq1wtf	tumor suppressor gene on chromosome 11|Tsg11|tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor											OMIM:603040|UMLS:C1864232																		owl:Class
MONDO:0005565	biolink:NamedThing	blastoma	A malignant neoplasm composed of undifferentiated cells.	mondoexuq1wtf	blastoma|embryoma											DOID:0070003|ICDO:8981/3|EFO:0005785|NCIT:C8997																		owl:Class
MONDO:0006682	biolink:NamedThing	brachial plexus neuritis	An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.	mondoexuq1wtf	neuritis of brachial nerve plexus|acute brachial neuritis syndrome|brachial nerve plexus neuritis|parsonage-Aldren-Turner syndrome|acute shoulder neuritis|acute brachial neuritis|brachial neuritis|parsonage Turner syndrome|idiopathic neuralgic amyotrophy|acute brachial radiculitis syndrome											GARD:0004228|MESH:D020968|EFO:1000843|SCTID:72893007|ICD9:723.4|MedDRA:10073002|ICD10:G54.5|DOID:3689|NCIT:C84600																		owl:Class
MONDO:0033204	biolink:NamedThing	ciliary dyskinesia, primary, 37		mondoexuq1wtf	CILD37|ciliary dyskinesia, primary, 37|primary ciliary dyskinesia 37|ciliary dyskinesia, primary, 37, with or without situs inversus											DOID:0080266|OMIM:617577																		owl:Class
MONDO:0018046	biolink:NamedThing	thrombocytopenia-robin sequence syndrome		mondoexuq1wtf	thrombocytopenia Robin sequence|Braddock Carey syndrome|congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock-Carey syndrome											MESH:C536898|UMLS:C2931364|Orphanet:3323|GARD:0005193																		owl:Class
MONDO:0014543	biolink:NamedThing	congenital myasthenic syndrome 14	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.	mondoexuq1wtf	myasthenic syndrome, congenital, 14|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|CMSTA3|myasthenic syndrome, congenital, with tubular aggregates 3|CMS14|myasthenic syndrome, congenital, type 14|congenital myasthenic syndrome type 14|congenital myasthenic syndrome 14, with tubular aggregates|ALG2 congenital myasthenic syndromes with glycosylation defect|congenital myasthenic syndrome with tubular aggregates 3											OMIM:616228|UMLS:C4015597|DOID:0110669																		owl:Class
MONDO:0008034	biolink:NamedThing	muscular dystrophy, pseudohypertrophic, with Internalized capillaries		mondoexuq1wtf	muscular dystrophy, pseudohypertrophic, with Internalized capillaries											OMIM:159050|UMLS:C1834652|MESH:C563554																		owl:Class
MONDO:0011962	biolink:NamedThing	endometrial cancer	Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).	mondoexuq1wtf	endometrial neoplasm|primary malignant neoplasm of endometrium|endometrial Ca|malignant endometrial neoplasm|cancer of endometrium|endometrial cancer|endometrium cancer|neoplasm of endometrium|tumor of endometrium|malignant neoplasm of endometrium|malignant endometrium neoplasm											NCIT:C27815|GARD:0011981|OMIM:608089|ICD10:C54.1|KEGG:05213|EFO:0004230|DOID:1380																		owl:Class
MONDO:0016019	biolink:NamedThing	Rasmussen subacute encephalitis	A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.	mondoexuq1wtf	Rasmussen encephalitis|chronic focal encephalitis|CFE|Rasmussen syndrome|RE											MESH:C535291|UMLS:C2930868|NCIT:C125384|SCTID:230191005|ICD9:323.9|ICD10:G04.8|Orphanet:1929|GARD:0007527																		owl:Class
MONDO:0014352	biolink:NamedThing	abdominal obesity-metabolic syndrome 3	Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.	mondoexuq1wtf	DYRK1B metabolic syndrome|abdominal obesity-metabolic syndrome type 3|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|metabolic syndrome caused by mutation in DYRK1B|abdominal obesity-metabolic syndrome 3|AOMS3											OMIM:615812|DOID:0060612|UMLS:C4014361																		owl:Class
MONDO:0004955	biolink:NamedThing	metabolic syndrome	A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose.	mondoexuq1wtf	metabolic syndrome|metabolic syndrome X											NCIT:C84442|ICD9:277.7|ICD10:E88.81|EFO:0000195																		owl:Class
MONDO:0004341	biolink:NamedThing	colloid carcinoma of the pancreas	An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.	mondoexuq1wtf	mucinous Noncystic carcinoma|colloid carcinoma of the pancreas|pancreatic mucinous Noncystic carcinoma											NCIT:C37214|DOID:7717|UMLS:C1333081																		owl:Class
MONDO:0000518	biolink:NamedThing	sacrum chordoma	A chordoma (disease) that involves the fused sacrum.	mondoexuq1wtf	fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum											SCTID:447730004|UMLS:C3164279|DOID:0050900																		owl:Class
MONDO:0008243	biolink:NamedThing	Pick disease	A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.	mondoexuq1wtf	dementia in Pick's disease|Pick disease|Pick disease of the brain|PICK disease of brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of the brain|lobar atrophy of brain|Pick's disease											OMIM:172700|UMLS:C0236642|ICD9:331.11|EFO:0003096|SCTID:13092008|ICD10:G31.01|NCIT:C85008|DOID:11870|GARD:0007392|MESH:D020774																		owl:Class
MONDO:0024238	biolink:NamedThing	cerebral degeneration	A neurodegenerative disease that involves the telencephalon.	mondoexuq1wtf	neurodegenerative disease of telencephalon|telencephalon neurodegenerative disease|cerebral degeneration											UMLS:C0154671|ICD9:331.9|SCTID:418143002																		owl:Class
MONDO:0001618	biolink:NamedThing	balanoposthitis		mondoexuq1wtf												SCTID:46090001|DOID:13031|COHD:436466|UMLS:C0004691|ICD10:N47.6|ICD9:607.1																		owl:Class
MONDO:0007795	biolink:NamedThing	mullerian duct anomalies-limb anomalies syndrome	Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.	mondoexuq1wtf	limb uterus syndrome|hypomelia with mullerian duct anomalies|Müllerian duct anomalies-limb anomalies syndrome|limb-uterus syndrome|severe upper limb hypoplasia and Mullerian duct anomalies|hypomelia mullerian duct anomalies											OMIM:146160|ICD10:Q87.8|GARD:0002908|Orphanet:2491|MESH:C537155|UMLS:C1840335																		owl:Class
MONDO:0000541	biolink:NamedThing	jejunal adenocarcinoma	A adenocarcinoma that involves the jejunum.	mondoexuq1wtf	jejunal adenocarcinoma (disease)|jejunum adenocarcinoma|jejunal adenocarcinoma		jejunal adenocarcinoma (disease)									HP:0030411|DOID:0050926|UMLS:C4072935																		owl:Class
MONDO:0003198	biolink:NamedThing	small intestine adenocarcinoma	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	mondoexuq1wtf	small intestinal adenocarcinoma|adenocarcinoma of small instestine|adenocarcinoma of the small bowel|small bowel adenocarcinoma|adenocarcinoma of the small instestine|adenocarcinoma - small intest.|adenocarcinoma of small bowel|small intestine adenocarcinoma|adenocarcinoma of small intestine|adenocarcinoma of the small intestine											NCIT:C7888|GARD:0013090|EFO:1000532|Orphanet:104075|ICD10:D01.4|UMLS:C0278803|DOID:4906|SCTID:424440001																		owl:Class
MONDO:0008253	biolink:NamedThing	platelet aggregation, spontaneous		mondoexuq1wtf	platelet aggregation, spontaneous											OMIM:173400|MESH:C566800|UMLS:C1868263																		owl:Class
MONDO:0003062	biolink:NamedThing	intestinal benign neoplasm	A benign neoplasm that involves the intestine.	mondoexuq1wtf	intestinal tumors, benign|intestine benign neoplasm|benign intestinal tumor|benign neoplasm of intestines|benign neoplasms of the large and/or small intestine|benign intestine neoplasm|benign intestine tumor|benign neoplasms of large and/or small intestine|benign intestinal neoplasm|benign tumor of intestines|intestinal neoplasms, benign|benign intestinal tumors|benign neoplasm of the intestines|benign tumor of the intestines|benign intestinal neoplasms											UMLS:C0347269|NCIT:C4609|SCTID:92151003																		owl:Class
MONDO:0021101	biolink:NamedThing	appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	mondoexuq1wtf	malignant appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell NET|appendix L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|malignant appendiceal glucagonoma|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor											UMLS:C3274138|NCIT:C27445|DOID:8151																		owl:Class
MONDO:0019816	biolink:NamedThing	anomaly of the tricuspid subvalvular apparatus		mondoexuq1wtf												Orphanet:95463|ICD10:Q22.8																		owl:Class
MONDO:0023249	biolink:NamedThing	polyarticular juvenile rheumatoid arthritis		mondoexuq1wtf	Juvenile polyarthritis rheumatoid factor negative|Juvenile polyarthritis rheumatoid factor positive|Polyarticular juvenile rheumatoid arthritis											GARD:0010967|SCTID:445479007|UMLS:C0311221																		owl:Class
MONDO:0014556	biolink:NamedThing	congenital contractures of the limbs and face, hypotonia, and developmental delay		mondoexuq1wtf	congenital contractures of the limbs and face, hypotonia, and developmental delay|CLIFAHDD											EFO:1001868|OMIM:616266|UMLS:C4225398																		owl:Class
MONDO:0014871	biolink:NamedThing	retinitis pigmentosa 75	Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.	mondoexuq1wtf	RP75|retinitis pigmentosa type 75|retinitis pigmentosa 75|retinitis pigmentosa caused by mutation in AGBL5|AGBL5 retinitis pigmentosa											OMIM:617023|DOID:0110361|UMLS:C4310759|ICD10:H35.5																		owl:Class
MONDO:0002550	biolink:NamedThing	hypoglossal nerve neoplasm	A neoplasm involving a hypoglossal nerve.	mondoexuq1wtf	tumor of the hypoglossal nerve|neoplasm of twelfth cranial nerve|hypoglossal nerve tumor|tumor of the twelfth cranial nerve|twelfth cranial nerve neoplasms|hypoglossal nerve neoplasms|twelfth cranial nerve tumor|XIIth cranial nerve neoplasms|hypoglossal nerve neoplasm (disease)|twelfth cranial nerve tumors|hypoglossal nerve tumors|neoplasm of hypoglossal nerve|twelfth cranial nerve neoplasm|tumor of hypoglossal nerve|hypoglossal nerve neoplasm|neoplasm of the twelfth cranial nerve|neoplasm of the hypoglossal nerve|tumor of twelfth cranial nerve|XIIth cranial nerve tumors											SCTID:126978008|ICD9:239.7|UMLS:C1263903|DOID:3198|NCIT:C5830																		owl:Class
MONDO:0003478	biolink:NamedThing	childhood ependymoma	An ependymoma that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	childhood ependymoma|ependymoma of childhood|ependymoma|pediatric ependymoma											NCIT:C8578|MESH:C531673|DOID:5509																		owl:Class
MONDO:0012184	biolink:NamedThing	Pierson syndrome	Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.	mondoexuq1wtf	microcoria-congenital nephrosis syndrome|microcoria - congenital nephrotic syndrome|microcoria-congenital nephrotic syndrome|Pierson syndrome|microcoria - congenital nephrosis											NCIT:C128145|Orphanet:2670|ICD10:N04.8|UMLS:C1836876|DOID:0060852|GARD:0009420|SCTID:723449004|OMIM:609049|GARD:0003945|MESH:C537185														https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome				owl:Class
MONDO:0003932	biolink:NamedThing	childhood optic nerve glioma	A glioma affecting the optic tract and occurring in childhood.	mondoexuq1wtf	pediatric optic tract glioma|childhood optic tract glioma|glioma of pediatric visual pathway|visual pathway and hypothalamic glioma, childhood|glioma of the pediatric visual pathway|childhood visual pathway glioma|pediatric visual pathway glioma|visual pathway glioma|optic nerve glioma of childhood|pediatric optic nerve glioma|glioma of childhood visual pathway|glioma of the childhood visual pathway											NCIT:C7535|DOID:6576|GARD:0009309																		owl:Class
MONDO:0017812	biolink:NamedThing	segmental progressive overgrowth syndrome with fibroadipose hyperplasia		mondoexuq1wtf												Orphanet:314662|UMLS:CN203781																		owl:Class
MONDO:0004462	biolink:NamedThing	extrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.	mondoexuq1wtf	cystadenoma of extrahepatic bile duct|cystadenoma of the extrahepatic bile duct|extrahepatic bile duct cystadenoma|extrahepatic bile duct mucinous cystic neoplasm											DOID:8105|UMLS:C1333504|NCIT:C5851																		owl:Class
MONDO:0003144	biolink:NamedThing	medulloepithelioma	A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.	mondoexuq1wtf	MDEP|Diktyoma, malignant|medulloepithelioma NOS (morphologic abnormality)|medulloepithelioma of the central nervous system|medulloepithelioma, central nervous system|central nervous system medulloepithelioma											NCIT:C4327|ONCOTREE:MDEP|UMLS:C0334596|Orphanet:251883|SCTID:715903004|DOID:4790																		owl:Class
MONDO:0005255	biolink:NamedThing	mild heart failure	Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.	mondoexuq1wtf												Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003147																		owl:Class
MONDO:0005254	biolink:NamedThing	symptomatic heart failure	A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc	mondoexuq1wtf												EFO:0003146																		owl:Class
MONDO:0022529	biolink:NamedThing	BK-virus nephropathy		mondoexuq1wtf	polyomavirus associated nephropathy|PVAN|Polyomavirus nephropathy|BKN|nephropathy from BK virus|BK virus nephropathy|kidney disease caused by BK polyomavirus|nephropathy caused by BK polyomavirus											ICD9:079.89|SCTID:713886006|UMLS:C1697878|GARD:0010470|DOID:0040086																		owl:Class
MONDO:0010995	biolink:NamedThing	Charcot-Marie-Tooth disease type 1C	Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.	mondoexuq1wtf	HMSN 1C|HMSN IC|Charcot-Marie-Tooth neuropathy, type 1C|CMT 1C|CMT slow nerve conduction type C|Charcot-Marie-Tooth neuropathy type 1C|Charcot Marie Tooth disease type 1C|CMT1C|neuropathy hereditary motor and sensory type 1C|Charcot-Marie-Tooth disease, demyelinating, type 1C|LITAF Charcot-Marie-Tooth disease type 1|neuropathy, hereditary motor and sensory, type 1C|CMT, slow nerve conduction type C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|HMSN1C											GARD:0001247|DOID:0110151|OMIM:601098|MESH:C537984|ICD10:G60.0|Orphanet:101083|UMLS:C0270913														https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c				owl:Class
MONDO:0044717	biolink:NamedThing	4q25 proximal deletion syndrome		mondoexuq1wtf	proximal monosomy 4q25|proximal del(4)(q25)											Orphanet:502437																		owl:Class
MONDO:0008478	biolink:NamedThing	spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.	mondoexuq1wtf	Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia, Algerian type|spondylometaphyseal dysplasia, Schmidt type|spondylometaphyseal dysplasia with severe genu valgum|spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia Algerian type											OMIM:184253|MESH:C535794|ICD10:Q77.8|SCTID:719304005|GARD:0000504|Orphanet:93316																		owl:Class
MONDO:0017065	biolink:NamedThing	lumbosacral spina bifida aperta		mondoexuq1wtf												UMLS:CN202424|Orphanet:268388																		owl:Class
MONDO:0017348	biolink:NamedThing	lymphoepithelial-like carcinoma	Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	mondoexuq1wtf												Orphanet:289682																		owl:Class
MONDO:0017862	biolink:NamedThing	paraquat poisoning	Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.	mondoexuq1wtf												UMLS:CN227212|ICD10:T60.3|Orphanet:31827																		owl:Class
MONDO:0009821	biolink:NamedThing	lethal osteosclerotic bone dysplasia	Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.	mondoexuq1wtf	osteosclerotic bone dysplasia, lethal|Raine syndrome|combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis|RAINE syndrome|RNS											Orphanet:1832|MESH:C535282|OMIM:259775|GARD:0000282|ICD10:Q78.2|UMLS:C1850106																		owl:Class
MONDO:0015593	biolink:NamedThing	limbic encephalitis with nCMAgs antibodies		mondoexuq1wtf	limbic encephalitis with novel cell membrane antigen antibodies											Orphanet:163914|ICD10:G13.1																		owl:Class
MONDO:0008456	biolink:NamedThing	spinocerebellar ataxia with rigidity and peripheral neuropathy		mondoexuq1wtf	spinocerebellar ataxia with rigidity and peripheral neuropathy											UMLS:C1866770|OMIM:183050|MESH:C566669																		owl:Class
MONDO:0100363	biolink:NamedThing	genital herpes simplex type 2 infectious disease	Any herpes simplex type 2 infectious disease that involves the genitals.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0005511	biolink:NamedThing	janus kinase-3 deficiency	Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.	mondoexuq1wtf												DOID:0060008|EFO:0005565|Wikipedia:Janus_kinase_3_deficiency																		owl:Class
MONDO:0016516	biolink:NamedThing	Kenny-Caffey syndrome	A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.	mondoexuq1wtf	Kenny syndrome											Orphanet:2333|ICD10:Q87.1|ICD9:759.89|DC:0000549|MESH:C537020|NCIT:C130991|OMIMPS:127000|UMLS:C0265291|SCTID:82837002																		owl:Class
MONDO:0004460	biolink:NamedThing	thyroid gland fetal adenoma	A thyroid gland adenoma composed of microfollicular structures.	mondoexuq1wtf	microfollicular adenoma (morphologic abnormality)|thyroid fetal adenoma|thyroid gland microfollicular adenoma|microfollicular adenoma											ICDO:8333/0|UMLS:C0334328|DOID:8102|NCIT:C4160																		owl:Class
MONDO:0008542	biolink:NamedThing	tetralogy of fallot	Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.	mondoexuq1wtf	ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|tetralogy of FALLOT|tetralogy of fallot|Fallot tetralogy|TOF											Orphanet:3303|MESH:D013771|MedDRA:10016193|UMLS:C0039685|SCTID:86299006|COHD:320835|GARD:0002245|NCIT:C84505|ICD10:Q21.3|DOID:6419|ICD9:745.2|OMIM:187500														https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot				owl:Class
MONDO:0019302	biolink:NamedThing	mucopolysaccharidosis with skin involvement		mondoexuq1wtf	MPS with skin involvement											Orphanet:79388																		owl:Class
MONDO:0006465	biolink:NamedThing	thyroid gland oncocytic follicular carcinoma	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.	mondoexuq1wtf	Hurthle cell thyroid gland carcinoma|Hurthle cell carcinoma of the thyroid gland|oncocytic carcinoma of the thyroid|Hurthle cell carcinoma of thyroid gland|Hurthle cell carcinoma of the thyroid|Hurthle cell carcinoma of thyroid|thyroid Hurthle cell carcinoma|thyroid gland Hurthle cell carcinoma|thyroid oncocytic carcinoma|oncocytic carcinoma of thyroid											NCIT:C4946|EFO:1000592																		owl:Class
MONDO:0015588	biolink:NamedThing	limbic encephalitis	Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.	mondoexuq1wtf												Orphanet:163892|GARD:0008742|SCTID:230192003|ICD9:323.9|MESH:D020363														https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis				owl:Class
MONDO:0009351	biolink:NamedThing	homocarnosinosis	Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.	mondoexuq1wtf	homocarnosinosis|Homocarnosinase deficiency											UMLS:C3495554|Orphanet:2168|DOID:0060177|ICD9:277.89|GARD:0002730|SCTID:61764000|ICD10:E72.8|UMLS:C0268632|MESH:C535328|OMIM:236130																		owl:Class
MONDO:0000698	biolink:NamedThing	gamma-amino butyric acid metabolism disorder	An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.	mondoexuq1wtf												DOID:0060176																		owl:Class
MONDO:0007095	biolink:NamedThing	ameloonychohypohidrotic syndrome		mondoexuq1wtf	amelo-onycho-hypohidrotic syndrome|hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|ameloonychohypohidrotic syndrome											UMLS:C1863006|MESH:C538245|SCTID:715404000|Orphanet:1028|OMIM:104570|GARD:0000647|ICD10:Q82.4														https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome				owl:Class
MONDO:0006767	biolink:NamedThing	gastric antral vascular ectasia	Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.	mondoexuq1wtf	watermelon stomach|gave											DOID:2493|SCTID:43935004|GARD:0007877|MedDRA:10051585|NCIT:C84724|MESH:D020252|EFO:1000945																		owl:Class
MONDO:0021658	biolink:NamedThing	vascular ectasia		mondoexuq1wtf	vascular ectasia											NCIT:C45481|UMLS:C0002959																		owl:Class
MONDO:0008440	biolink:NamedThing	spastic paraplegia-nephritis-deafness syndrome	This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.	mondoexuq1wtf	Fitzsimmons Walson Mellor syndrome|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|spastic paraplegia - nephritis - deafness|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy											GARD:0002342|MESH:C537937|OMIM:182690|UMLS:C2931667|Orphanet:2820														https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome				owl:Class
MONDO:0009029	biolink:NamedThing	cranial nerves, congenital paresis of		mondoexuq1wtf	cranial nerves, congenital paresis of											UMLS:C1857531|OMIM:218100|MESH:C565673																		owl:Class
MONDO:0032811	biolink:NamedThing	night blindness, congenital stationary, type1i		mondoexuq1wtf	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I|CSNB1I											OMIM:618555																		owl:Class
MONDO:0021745	biolink:NamedThing	psychosocial short stature	A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.	mondoexuq1wtf	abuse dwarfism syndrome|child abuse dwarfism|psychosocial dwarfism|Kaspar Hauser syndrome											MESH:C535569|GARD:0009440|SCTID:39465007|UMLS:C1455735														https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature				owl:Class
MONDO:0011356	biolink:NamedThing	exostosis, Dupuytren subungual		mondoexuq1wtf	Dupuytren subungual exostosis|subungual exostoses|exostosis, Dupuytren subungual											GARD:0008280|OMIM:603656|UMLS:C1863622|MESH:C535723														https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis				owl:Class
MONDO:0008877	biolink:NamedThing	blue diaper syndrome	Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.	mondoexuq1wtf	Drummond syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome|familial hypercalcemia-nephrocalcinosis-indicanuria syndrome											OMIM:211000|Orphanet:94086|GARD:0005939|SCTID:59531002|ICD10:E70.8|UMLS:C0268478|MESH:C536239														https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome				owl:Class
MONDO:0017322	biolink:NamedThing	disorders of vitamin D metabolism		mondoexuq1wtf												Orphanet:289098|UMLS:CN202954																		owl:Class
MONDO:0012775	biolink:NamedThing	thrombocytopenia 4	Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.	mondoexuq1wtf	THC4|thrombocytopenia, autosomal dominant, 4|thrombocytopenia caused by mutation in CYCS|CYCS thrombocytopenia|thrombocytopenia type 4|thrombocytopenia 4											MESH:C567438|OMIM:612004|UMLS:C2677608																		owl:Class
MONDO:0015679	biolink:NamedThing	autosomal thrombocytopenia with normal platelets		mondoexuq1wtf												ICD10:D69.4|Orphanet:168629|UMLS:CN200175																		owl:Class
MONDO:0011393	biolink:NamedThing	hypoalphalipoproteinemia, primary, 1	Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.	mondoexuq1wtf	hypoalphalipoproteinemia, primary|HDL cholesterol, Low serum|high density lipoprotein deficiency|FHA|familial HDL deficiency|FHD|hypoalphalipoproteinemia, familial|HDLD											GARD:0002872|OMIM:604091																		owl:Class
MONDO:0024647	biolink:NamedThing	urolithiasis	Stone(s) within the urinary tract.	mondoexuq1wtf	urinary stones|kidney stone|urolithiasis|calculus											UMLS:C0451641|DOID:0080653|NCIT:C114688|SCTID:95566004|ICD10:N21																		owl:Class
MONDO:0004641	biolink:NamedThing	skin carcinoma in situ	A in situ carcinoma that involves the zone of skin.	mondoexuq1wtf	stage 0 skin cancer aJCC v7|zone of skin carcinoma in situ|skin carcinoma stage 0|carcinoma in situ of zone of skin|carcinoma of the skin stage 0|skin cancer stage 0|carcinoma in situ of the skin|stage 0 skin carcinoma|cutaneous carcinoma in situ|stage 0 zone of skin carcinoma|stage 0 skin cancer aJCC v6|stage 0 nonmelanoma skin carcinoma in situ|carcinoma in situ of skin|stage 0 skin cancer|nonmelanoma carcinoma in situ|skin carcinoma in situ|zone of skin in situ carcinoma|carcinoma of skin stage 0											ICD10:D04.6|ICD9:232.7|ICD9:232.6|ICD9:232.2|ICD9:232.9|ICD10:D04.7|ICD9:232.0|DOID:8687|ICD10:D04.3|UMLS:C0154073|ICD9:232.4|ICD10:D04|ICD10:D04.0|ICD10:D04.9|ICD9:232.8|SCTID:92749008|COHD:138996|NCIT:C3640|ICD10:D04.4|ICD10:D04.2|ICD9:232.3|ICD9:232.5|ICD9:232																		owl:Class
MONDO:0004278	biolink:NamedThing	infiltrating bladder urothelial carcinoma sarcomatoid variant	An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.	mondoexuq1wtf	infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma sarcomatoid variant											ONCOTREE:SCB|NCIT:C39824|DOID:7553|UMLS:C1512745|EFO:1000303|UMLS:C1512744|UMLS:C1512743																		owl:Class
MONDO:0015628	biolink:NamedThing	von Willebrand disease type 2A	Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.	mondoexuq1wtf	von Willebrand disease, type 2A											SCTID:359714009|UMLS:C1282968|ICD10:D68.0|Orphanet:166084|NCIT:C131686																		owl:Class
MONDO:0019100	biolink:NamedThing	neuromyelitis optica	Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	mondoexuq1wtf	Devic's syndrome|Devic's neuromyelitis optica|Devic's disease|Devic syndrome|Devic disease|NMO											MESH:D009471|ICD9:341.0|ICD10:G36.0|UMLS:C0027873|COHD:380995|GARD:0006267|NCIT:C84934|EFO:0004256|SCTID:25044007|MedDRA:10029322|Orphanet:71211|DOID:8869														https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica				owl:Class
MONDO:0012160	biolink:NamedThing	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	mondoexuq1wtf	SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|SmD-CRD											OMIM:608940|UMLS:C1837073|MESH:C563825|ICD10:Q77.8|GARD:0010647|Orphanet:85167																		owl:Class
MONDO:0004456	biolink:NamedThing	cocaine abuse	Disorders related or resulting from use of cocaine.	mondoexuq1wtf												ICD9:305.6|SCTID:78267003|ICD10:F14.1|DOID:809|ICD9:305.60																		owl:Class
MONDO:0600026	biolink:NamedThing	vanishing lung syndrome	A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.	mondoexuq1wtf	VLS|idiopathic giant bullous emphysema							http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0100203	biolink:NamedThing	parainfluenza virus type 1 infectious disease	A disease caused by infection with parainfluenza virus type 1.	mondoexuq1wtf	infection due to human parainfluenza virus 1|human respirovirus 1 infectious disease|infection caused by human parainfluenza virus 1|parainfluenza 1 infection					Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.		http://orcid.org/0000-0001-5208-3432				OMOP:4248511														https://github.com/monarch-initiative/mondo/issues/2063				owl:Class
MONDO:0002308	biolink:NamedThing	giant papillary conjunctivitis	Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.	mondoexuq1wtf	GPC											SCTID:231857004|UMLS:C0009769|DOID:2457|GARD:0008445|NCIT:C34507|ICD9:372.39														https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis				owl:Class
MONDO:0002967	biolink:NamedThing	dermatophytosis of scalp or beard	Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.	mondoexuq1wtf	Trichophyton rubrum tinea capitis|tinea capitis|dermatophytosis of scalp and beard|dermatophytosis of scalp|scalp dermatophytosis|tinea capitis due to Trichophyton rubrum|scalp ringworm											ICD9:110.0|SCTID:266148000|NCIT:C34536|COHD:141508|UMLS:C0011640|UMLS:C1274426|DOID:4337																		owl:Class
MONDO:0044999	biolink:NamedThing	scalp disease	A disease or disorder that involves the scalp.	mondoexuq1wtf	disease or disorder of scalp|disease of scalp|scalp disease|disorder of scalp|scalp disease or disorder											UMLS:C0406629|SCTID:238922006																		owl:Class
MONDO:0021099	biolink:NamedThing	intraductal papillomatosis	A neoplastic process characterized by the presence of multiple intraductal papillomas.	mondoexuq1wtf	intraductal papillomatosis|duct papillomatosis											ICDO:8505/0|NCIT:C7363|UMLS:C0334377																		owl:Class
MONDO:0011985	biolink:NamedThing	hyper-IgM syndrome type 4	A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.	mondoexuq1wtf	immunodeficiency with hyper IgM type 4|immunodeficiency with hyper-IgM, type 4|hyper-IgM syndrome 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM type 4|hyper-IgM syndrome type 4|HIGM4											GARD:0010580|OMIM:608184|ICD10:D80.5|DOID:0060760|Orphanet:101091|UMLS:C1842413|MESH:C564277														https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4				owl:Class
MONDO:0001199	biolink:NamedThing	dislocation of ear ossicle	Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.	mondoexuq1wtf	dislocation of ear ossicles|ossicle chain discontinuity|ossicle chain disarticulation|dislocation of ossicles|ossicle chain disruption|ossicular dislocation											DOID:11129|ICD9:385.23|SCTID:87040007																		owl:Class
MONDO:0015061	biolink:NamedThing	neurogenic thoracic outlet syndrome	Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.	mondoexuq1wtf	NTOS|neurogenic TOS|neurogenic cervical rib syndrome|neurogenic costoclavicular syndrome|neurogenic thoracic outlet compression syndrome											UMLS:C0751549|SCTID:2040007|Orphanet:100073|ICD10:G54.0																		owl:Class
MONDO:0005979	biolink:NamedThing	thoracic outlet syndrome	A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.	mondoexuq1wtf	TOS - thoracic outlet syndrome|thoracic outlet compression syndrome|TOS											UMLS:C0039984|Orphanet:97330|DOID:3103|ICD10:G54.0|SCTID:128210009|NCIT:C85188|MESH:D013901|EFO:0007507|MedDRA:10048627																		owl:Class
MONDO:0012053	biolink:NamedThing	aneurysm, intracranial berry, 2		mondoexuq1wtf	ANIB2|aneurysm, intracranial BERRY, 2											MESH:C536360|UMLS:C1837894|GARD:0010033|OMIM:608542																		owl:Class
MONDO:0011359	biolink:NamedThing	acromelic frontonasal dysostosis	Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	mondoexuq1wtf	AFND|frontonasal dysplasia acromelic|acromelic frontonasal dysostosis|Toriello syndrome|acromelic frontonasal dysplasia											OMIM:603671|DOID:0060342|SCTID:715427008|MESH:C566345|ICD10:Q75.8|GARD:0002393|GARD:0005539|Orphanet:1827|UMLS:C1863616														https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic				owl:Class
MONDO:0002252	biolink:NamedThing	granulomatous hepatitis	Hepatitis that is characterized by the presence of granulomas.	mondoexuq1wtf												SCTID:86514004|NCIT:C27015|DOID:2239|UMLS:C0235369																		owl:Class
MONDO:0012912	biolink:NamedThing	pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).	mondoexuq1wtf	Normocalcemic pseudohypoparathyroidism|Pseudopseudo-hypoparathyroidism|aho-PPHP syndrome|Albright Hereditary osteodystrophy with Multiple hormone Resistance|Albright hereditary osteodystrophy without multiple hormone resistance|PPHP|Albright hereditary osteodystrophy-PPHP syndrome|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|pseudopseudohypoparathyroidism|pseudo-pseudohypoparathyroidism											ICD10:E20.1|ICD9:275.49|DOID:4183|Orphanet:79445|GARD:0007860|SCTID:237659007|Orphanet:665|UMLS:C0033835|OMIM:612463|MESH:D011556|NCIT:C129722														https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism				owl:Class
MONDO:0001242	biolink:NamedThing	disseminated intravascular coagulation in newborn	A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.	mondoexuq1wtf	neonatal disseminated intravascular coagulation|DIC in newborn|disseminated intravascular coagulation in newborn											DOID:11246|ICD9:776.2|COHD:432443|NCIT:C111856|SCTID:34417008|ICD10:P60|UMLS:C0158992																		owl:Class
MONDO:0001243	biolink:NamedThing	disseminated intravascular coagulation	A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.	mondoexuq1wtf	intravascular coagulation (DIC), disseminated|DIC, disseminated intravascular coagulation|diffuse or disseminated intravascular coagulation|DIC|disseminated intravascular coagulation|coagulation (DIC), disseminated intravascular|consumptive coagulopathy|disseminated intravascular coagulation (DIC)|defibrination syndrome											ICD10:D65|SCTID:67406007|COHD:436093|UMLS:C4321305|NCIT:C2992|UMLS:C0012739|DOID:11247|ICD9:286.6|MESH:D004211																		owl:Class
MONDO:0011323	biolink:NamedThing	arhinia, choanal atresia, and microphthalmia		mondoexuq1wtf	BOSMA arhinia microphthalmia syndrome|Bosma arhinia microphthalmia syndrome|arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|BAMS|arhinia, choanal atresia, and microphthalmia											OMIM:603457|MESH:C537429|SCTID:720511000																		owl:Class
MONDO:0019009	biolink:NamedThing	isolated focal cortical dysplasia	Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.	mondoexuq1wtf	epilepsy due to FCD											Orphanet:65683|SCTID:766710005|ICD10:Q04.8																		owl:Class
MONDO:0015340	biolink:NamedThing	drug rash with eosinophilia and systemic symptoms	DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.	mondoexuq1wtf	dress syndrome|drug reaction eosinophilic systemic syndrome											SCTID:702809001|Orphanet:139402|MedDRA:10058919|MESH:D063926																		owl:Class
MONDO:0037870	biolink:NamedThing	valine metabolism disease	A disease that has its basis in the disruption of valine metabolic process.	mondoexuq1wtf	disorder of valine metabolism|valine metabolic process disease|disorder of valine metabolic process											SCTID:444756000|UMLS:C2919304																		owl:Class
MONDO:0003450	biolink:NamedThing	eccrine papillary adenoma	A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.	mondoexuq1wtf	eccrine papillary adenoma of skin|Papillary eccrine adenoma											GARD:0010463|SCTID:253021007|ICDO:8408/0|NCIT:C4173|DOID:5446|UMLS:C0334350														https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma				owl:Class
MONDO:0010408	biolink:NamedThing	syndactyly-telecanthus-anogenital and renal malformations syndrome	This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	mondoexuq1wtf	toe syndactyly, telecanthus, anogenital and renal malformations|STAR syndrome|syndactyly, telecanthus, anogenital and renal malformations|STAR|toe syndactyly, telecanthus, and anogenital and renal malformations|Star syndrome|syndactyly with renal and anogenital malformations											ICD10:Q87.8|OMIM:300707|GARD:0010295|Orphanet:140952|SCTID:723581006|UMLS:C2678045|MESH:C567475																		owl:Class
MONDO:0007974	biolink:NamedThing	intellectual disability, autosomal dominant 1	An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.	mondoexuq1wtf	autosomal dominant mental retardation 1|intellectual disability, autosomal dominant 1|MRD1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|autosomal dominant non-syndromic intellectual disability 1|chromosome 2Q23.1 deletion syndrome|autosomal dominant intellectual disability 1|intellectual disability, autosomal dominant type 1|mental retardation, autosomal dominant 1|mental retardation, autosomal dominant type 1|MBD5 autosomal dominant non-syndromic intellectual disability											MESH:C566947|OMIM:156200|NCIT:C141424|DOID:0070031																		owl:Class
MONDO:0006950	biolink:NamedThing	retinal vasculitis	Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.	mondoexuq1wtf	retinal vasculitis											ICD9:362.18|MESH:D031300|DOID:11563|ICD10:H35.06|MedDRA:10038905|EFO:1001156|SCTID:77628002|UMLS:C0152026|COHD:436403																		owl:Class
MONDO:0005031	biolink:NamedThing	fibromatosis	A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.	mondoexuq1wtf	fibromatosis											EFO:0000497|GARD:0006439|NCIT:C3042|SCTID:723976005																		owl:Class
MONDO:0011796	biolink:NamedThing	epilepsy, partial, with pericentral spikes		mondoexuq1wtf	epilepsy, partial, with pericentral spikes|Epps|PEPS											MESH:C564605|OMIM:607221|UMLS:C1846609																		owl:Class
MONDO:0013339	biolink:NamedThing	dilated cardiomyopathy 1GG	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.	mondoexuq1wtf	dilated cardiomyopathy type 1GG|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Gg|CMD1GG|cardiomyopathy, dilated, 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA											DOID:0110435|UMLS:C3150898|OMIM:613642|ICD10:I42.0																		owl:Class
MONDO:0013852	biolink:NamedThing	hypertrophic cardiomyopathy 21	A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 21|cardiomyopathy familial hypertrophic 21|hypertrophic cardiomyopathy type 21|CMH21											UMLS:C3553442|OMIM:614676|DOID:0110311																		owl:Class
MONDO:0001859	biolink:NamedThing	algoneurodystrophy		mondoexuq1wtf												ICD9:733.7|DOID:14022|ICD10:M89.00|ICD10:M89.0																		owl:Class
MONDO:0019369	biolink:NamedThing	complex regional pain syndrome	Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.	mondoexuq1wtf	CRPS|reflex sympathetic dystrophy|Complex regional pain syndromes											SCTID:128200000|Orphanet:83452|GARD:0004647|MESH:D020918|ICD10:G56.4|MedDRA:10064332|ICD10:M89.0|UMLS:C0458219|DOID:3223																		owl:Class
MONDO:0006262	biolink:NamedThing	lacrimal gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lacrimal gland.	mondoexuq1wtf	adenoid cystic carcinoma of lacrimal gland|lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland											DOID:4870|NCIT:C4540|SCTID:254987003|UMLS:C0346340|EFO:1000317																		owl:Class
MONDO:0002475	biolink:NamedThing	lacrimal gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the lacrimal gland	mondoexuq1wtf	adenocarcinoma of lacrimal gland|adenocarcinoma of the lacrimal gland|lacrimal gland adenocarcinoma											UMLS:C0346341|NCIT:C4541|DOID:298|SCTID:254988008																		owl:Class
MONDO:0021439	biolink:NamedThing	benign neoplasm of pituitary gland	A benign neoplasm that involves the pituitary gland.	mondoexuq1wtf	benign tumor of the pituitary|benign tumor of pituitary gland|pituitary tumor, benign|benign neoplasm of pituitary|benign neoplasm of the pituitary|benign tumor of the pituitary gland|benign tumor of pituitary|pituitary gland benign neoplasm|benign pituitary gland tumor|benign pituitary gland neoplasm|benign pituitary neoplasm|pituitary neoplasms, benign|benign neoplasm of the pituitary gland|benign pituitary tumor											DOID:60009|ICD10:D35.2|NCIT:C4782|UMLS:C0496901|SCTID:92296004																		owl:Class
MONDO:0015133	biolink:NamedThing	quantitative and/or qualitative congenital phagocyte defect		mondoexuq1wtf						Editor note: check how relates to phagocytosis terms						Orphanet:101985																		owl:Class
MONDO:0016760	biolink:NamedThing	microcephaly-microcornea syndrome, Seemanova type	Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.	mondoexuq1wtf	X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|Seemanova-Lesny syndrome|microcephaly microcornea syndrome Seemanova type|Seemanova Lesny syndrome											ICD10:Q87.8|MESH:C537539|GARD:0003627|Orphanet:2528|SCTID:715464002														https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type				owl:Class
MONDO:0004098	biolink:NamedThing	malignant melanocytic peripheral nerve sheath tumor of mediastinum	A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.	mondoexuq1wtf	mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|mediastinal melanocytic MPNST|malignant melanotic peripheral nerve sheath tumor of the mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|malignant mediastinal melanocytic peripheral nerve sheath tumor											UMLS:C1334600|NCIT:C6630|DOID:7077																		owl:Class
MONDO:0012686	biolink:NamedThing	major affective disorder 6		mondoexuq1wtf	bipolar affective disorder|MAFD6|MAJOR affective disorder 6|major affective disorder 6											MESH:C567075|OMIM:611536																		owl:Class
MONDO:0007772	biolink:NamedThing	pseudohypoaldosteronism type 2A		mondoexuq1wtf	hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|Gordon hyperkalemia-hypertension syndrome|pseudohypoaldosteronism, type IIA|PHA2A											OMIM:145260|SCTID:703254001|UMLS:C1840389|ICD10:I15.1|Orphanet:88938																		owl:Class
MONDO:0012840	biolink:NamedThing	inflammatory bowel disease 17	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.	mondoexuq1wtf	IBD17|inflammatory bowel disease 17|inflammatory bowel disease caused by mutation in IL23R|inflammatory bowel disease type 17|IL23R inflammatory bowel disease											UMLS:C2677091|OMIM:612261|DOID:0110883|MESH:C567378																		owl:Class
MONDO:0019946	biolink:NamedThing	ligneous conjunctivitis	Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.	mondoexuq1wtf	conjunctivitis lignosa											ICD10:H10.4|ICD9:372.39|SCTID:403435005|UMLS:C1274789|GARD:0006187|Orphanet:97231|MedDRA:10071570																		owl:Class
MONDO:0002314	biolink:NamedThing	chronic conjunctivitis	Conjunctivitis that is persistent and long-standing.	mondoexuq1wtf	conjunctivitis (disease), chronic|chronic conjunctivitis|chronic conjunctivitis (disease)|chronic conjunctivitis, unspecified											ICD10:H10.4|SCTID:73762008|NCIT:C35197|ICD9:372.10|UMLS:C0155145|ICD9:372.1|COHD:374036|ICD10:H10.40|DOID:2475																		owl:Class
MONDO:0007913	biolink:NamedThing	low density lipoprotein, variation in molecular weight of		mondoexuq1wtf	LOW density lipoprotein, variation in molecular weight OF											OMIM:152450																		owl:Class
MONDO:0009522	biolink:NamedThing	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	mondoexuq1wtf	LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis|ectodermal dysplasia, Berlin type|Berlin syndrome											MESH:C565440|OMIM:246500|UMLS:C1855504|SCTID:239032007|Orphanet:1816|ICD10:Q82.4|UMLS:C0406729																		owl:Class
MONDO:0003253	biolink:NamedThing	vulvar granular cell tumor	A usually benign granular cell tumor that arises from the vulva.	mondoexuq1wtf	granular cell tumor of mammalian vulva|vulvar granular cell tumor|mammalian vulva granular cell tumor											UMLS:C1520083|NCIT:C40328|DOID:5043																		owl:Class
MONDO:0005446	biolink:NamedThing	cutaneous leishmaniasis	Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.	mondoexuq1wtf	zone of skin leishmaniasis|Asian desert cutaneous leishmaniasis|leproid leishmaniasis											NCIT:C34770|ICD9:085.2|SCTID:186807008|UMLS:C0023283|DOID:9111|ICD10:B55.1|EFO:0005046|MESH:D016773																		owl:Class
MONDO:0007050	biolink:NamedThing	acromegaloid changes, cutis verticis gyrata, and corneal leukoma		mondoexuq1wtf	acromegaloid changes, cutis verticis gyrata, and corneal leukoma|acromegaly-cutis verticis gyrata-corneal leukoma syndrome|acromegaloid changes, cutis verticis gyrata and corneal leukoma|Rosenthal-Kloepfer syndrome											MESH:C535654|OMIM:102100|Orphanet:964|UMLS:CN225973|GARD:0000500														https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma				owl:Class
MONDO:0011419	biolink:NamedThing	camera-Marugo-Cohen syndrome		mondoexuq1wtf	obesity, mental retardation, body asymmetry, and muscle weakness|camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome											OMIM:604257|UMLS:C1858661|MESH:C537964|GARD:0008413														https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome				owl:Class
MONDO:0006753	biolink:NamedThing	Escherichia coli meningitis	A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)	mondoexuq1wtf												ICD9:320.82|UMLS:C0338395|ICD9:320.7|EFO:1000929|MESH:D020814|SCTID:192655005																		owl:Class
MONDO:0004919	biolink:NamedThing	infected hydrocele		mondoexuq1wtf												SCTID:11666007|UMLS:C0156300|DOID:9911|ICD9:603.1|COHD:74998|ICD10:N43.1																		owl:Class
MONDO:0004920	biolink:NamedThing	hydrocele		mondoexuq1wtf												COHD:76737|SCTID:55434001|DOID:9912|ICD9:603.9|ICD9:603.8																		owl:Class
MONDO:0045060	biolink:NamedThing	intraductal cribriform breast adenocarcinoma	A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.	mondoexuq1wtf	DCIS of the breast with cribriform pattern|intraductal cribriform breast adenocarcinoma|cribriform DCIS of the breast|DCIS of breast with cribriform pattern|cribriform DCIS of breast|cribriform ductal carcinoma in situ of breast|cribriform ductal breast carcinoma in situ|ductal carcinoma in situ of the breast with cribriform pattern|non-invasive cribriform ductal breast carcinoma|non-infiltrating cribriform ductal breast carcinoma|cribriform ductal carcinoma in situ of the breast|ductal carcinoma in situ of breast with cribriform pattern											ICDO:8201/2|NCIT:C5138|UMLS:C1334248																		owl:Class
MONDO:0020660	biolink:NamedThing	osteoblastic osteosarcoma	A conventional osteosarcoma characterized by the predominance of osteoid matrix.	mondoexuq1wtf	osteoblastic osteosarcoma											NCIT:C53953																		owl:Class
MONDO:0016152	biolink:NamedThing	qualitative or quantitative defects of calpain		mondoexuq1wtf						Editor note: TODO request for IPR001300						Orphanet:207104																		owl:Class
MONDO:0020740	biolink:NamedThing	ectodermal dysplasia and immunodeficiency 1		mondoexuq1wtf	HED-Id|ectodermal dysplasia, anhidrotic, with immune deficiency 1|EDAID1|ectodermal dysplasia, hypohidrotic, with immune deficiency 1|EDA-Id											OMIM:300291																		owl:Class
MONDO:0016319	biolink:NamedThing	congenital insensitivity to pain with hyperhidrosis		mondoexuq1wtf	congenital analgesia with hyperhidrosis|congenital indifference to pain with hyperhidrosis|congenital absence of pain with hyperhidrosis											ICD10:G90.8|Orphanet:217399																		owl:Class
MONDO:0100274	biolink:NamedThing	alkylglycerone-phosphate synthase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.	mondoexuq1wtf	alkylglycerone-phosphate synthase deficiency|AGPS deficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006479	biolink:NamedThing	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.	mondoexuq1wtf	pancreatic osteoclast-like giant cell carcinoma|undifferentiated pancreatic carcinoma with osteoclast-like giant cells|osteoclast-like giant cell neoplasm of pancreas|osteoclast-like giant cell neoplasm of the pancreas											EFO:1000607|DOID:7718|UMLS:C2007059|NCIT:C5723																		owl:Class
MONDO:0006478	biolink:NamedThing	undifferentiated pancreatic carcinoma	A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.	mondoexuq1wtf	pancreas undifferentiated carcinoma|sarcomatoid pancreatic carcinoma|undifferentiated pancreatic carcinoma|pleomorphic large cell pancreatic carcinoma|pancreatic carcinosarcoma|undifferentiated (anaplastic) pancreatic carcinoma|UCP|undifferentiated carcinoma of pancreas|undifferentiated carcinoma of the pancreas|spindle cell pancreatic carcinoma											UMLS:C1336861|NCIT:C5722|ONCOTREE:UCP|EFO:1000606																		owl:Class
MONDO:0012929	biolink:NamedThing	Compton-North congenital myopathy		mondoexuq1wtf	myopathy, congenital, Compton-NORTH|MYPCN|congenital lethal myopathy, Compton-North type											ICD10:G71.2|UMLS:C2675527|DOID:0080101|Orphanet:210163|MESH:C567261|OMIM:612540																		owl:Class
MONDO:0002920	biolink:NamedThing	malignant ovarian Brenner tumor	A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.	mondoexuq1wtf	malignant Brenner tumor of the ovary|ovarian Brenner tumor, malignant|malignant ovarian Brenner tumor|malignant Brenner tumor of ovary											DOID:4217|ICDO:9000/3|UMLS:C0334495|NCIT:C4270|EFO:1000357																		owl:Class
MONDO:0002370	biolink:NamedThing	ovarian Brenner tumor	A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.	mondoexuq1wtf	benign ovarian Brenner tumor|Brenner tumor of ovary|Brenner neoplasm of ovary|Brenner neoplasm of the ovary|ovarian Brenner tumor|Brenner tumor of the ovary|ovary Brenner tumor|ovarian Brenner neoplasm|Brenner tumor											SCTID:254859006|GARD:0009397|DOID:2636|MESH:D001948|EFO:1000112|NCIT:C3872																		owl:Class
MONDO:0012120	biolink:NamedThing	pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.	mondoexuq1wtf	lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency|PDHPD|pyruvate dehydrogenase phosphatase deficiency											Orphanet:79246|GARD:0009888|OMIM:608782|ICD10:E74.4|MESH:C536258|UMLS:C1837429														https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency				owl:Class
MONDO:0010147	biolink:NamedThing	tongue, pigmented fungiform papillae of		mondoexuq1wtf	tongue, pigmented fungiform papillae of											UMLS:C1848756|OMIM:275250																		owl:Class
MONDO:0001991	biolink:NamedThing	malignant cardiac germ cell tumor	A rare malignant germ cell tumor that arises from the pericardium.	mondoexuq1wtf	malignant germ cell neoplasm of heart|malignant heart germ cell tumor|malignant heart germ cell neoplasm|malignant Cardiac germ cell tumor|malignant Cardiac germ cell neoplasm|malignant germ cell tumor of heart|malignant germ cell tumor of the heart|malignant germ cell neoplasm of the heart											DOID:14535|UMLS:C1334566|NCIT:C5371																		owl:Class
MONDO:0031230	biolink:NamedThing	mitochondrial complex II deficiency, nuclear type		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:252011																		owl:Class
MONDO:0005954	biolink:NamedThing	screw worm infectious disease	Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.	mondoexuq1wtf	Cochliomyia hominivorax caused disease or disorder|infections, screw worm|screw worm infections|Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease|infection, screw worm											MESH:D012610|DOID:12927|EFO:0007479																		owl:Class
MONDO:0015283	biolink:NamedThing	maternally-inherited cardiomyopathy and hearing loss	Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	mondoexuq1wtf	maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome											UMLS:CN199218|ICD10:I42.8|Orphanet:1349																		owl:Class
MONDO:0019466	biolink:NamedThing	lymphomatoid granulomatosis	Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.	mondoexuq1wtf	LYG											GARD:0006943|UMLS:C0024307|NCIT:C7930|Orphanet:86869|ICD10:C83.8|ONCOTREE:LYG|SCTID:239940004|ICDO:9766/1|MESH:D008230|MedDRA:10025325														https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis				owl:Class
MONDO:0004406	biolink:NamedThing	adult central nervous system mixed germ cell tumor	A mixed germ cell tumor of central nervous system that occurs in an adult.	mondoexuq1wtf	Central nervous system Mixed germ cell tumor|adult central nervous system mixed germ cell tumor|mixed germ cell tumor of central nervous system of adults|adult mixed germ cell tumor of central nervous system											DOID:7945|UMLS:C1332195|NCIT:C27402																		owl:Class
MONDO:0016742	biolink:NamedThing	mixed germ cell tumor of central nervous system	A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.	mondoexuq1wtf	central nervous system mixed germ cell tumor|mixed germ cell tumor of CNS|CNS mixed germ cell tumor|mixed germ cell tumor of the central nervous system|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of the CNS											UMLS:CN201989|UMLS:C1334785|NCIT:C7016|Orphanet:252021																		owl:Class
MONDO:0013016	biolink:NamedThing	leukocyte adhesion deficiency 3	Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.	mondoexuq1wtf	lad-1 variant|leukocyte adhesion deficiency type 3|IADD|leukocyte adhesion deficiency, type III|leukocyte adhesion deficiency, type 3|FERMT3 leukocyte adhesion deficiency|leukocyte adhesion deficiency type III|integrin Activation deficiency disease|LAD1V|lad-III|LAD3|leukocyte adhesion deficiency-1 variant|LAD1 variant|leukocyte adhesion deficiency caused by mutation in FERMT3|leukocyte adhesion deficiency 1 variant|leukocyte adhesion deficiency 3|integrin activation deficiency disease											DOID:0110912|OMIM:612840|Orphanet:99844|UMLS:C2748536|ICD10:D84.8|MESH:C567555																		owl:Class
MONDO:0036696	biolink:NamedThing	spleen neoplasm	A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.	mondoexuq1wtf	tumor of spleen|neoplasm of spleen|spleen tumor|splenic neoplasm											NCIT:C3383|GARD:0007683																		owl:Class
MONDO:0008460	biolink:NamedThing	splenogonadal fusion-limb defects-micrognathia syndrome	Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	mondoexuq1wtf	splenogonadal fusion limb defects syndrome|Sgfld syndrome|SGFLD syndrome|splenogonadal fusion limb defect syndrome|splenogonadal fusion with limb defects and micrognathia|splenogonadal fusion limb defects micrognatia											OMIM:183300|ICD10:Q87.8|SCTID:726724005|GARD:0004963|Orphanet:2063|UMLS:C1866745|MESH:C537318																		owl:Class
MONDO:0004263	biolink:NamedThing	pediatric infratentorial ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.	mondoexuq1wtf	childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood infratentorial ependymoblastoma|pediatric infratentorial ependymoblastoma											UMLS:C1332972|DOID:7522|NCIT:C6773																		owl:Class
MONDO:0008245	biolink:NamedThing	piebald trait-neurologic defects syndrome	Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	mondoexuq1wtf	telfer Sugar Jaeger syndrome|telfer-Sugar-Jaeger syndrome|piebald trait with neurologic defects|White forelock and leukoderma with neurological impairment|piebald trait neurologic defects											UMLS:C1868311|GARD:0005133|OMIM:172850|Orphanet:2885|MESH:C536955																		owl:Class
MONDO:0012502	biolink:NamedThing	normophosphatemic familial tumoral calcinosis		mondoexuq1wtf	NFTC|tumoral calcinosis, normophosphatemic, familial|calcinosis, tumoral, with Normophosphatemia|familial normophosphatemic tumoral calcinosis											Orphanet:306658|GARD:0010878|OMIM:610455|DOID:0080170|MESH:C566473|ICD10:M11.2														https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis				owl:Class
MONDO:0007822	biolink:NamedThing	incisors, long upper central		mondoexuq1wtf	incisors, long upper central											OMIM:147300																		owl:Class
MONDO:0017733	biolink:NamedThing	alpha-mannosidosis, adult form		mondoexuq1wtf	lysosomal alpha-D-mannosidase deficiency, adult form|Alpha-mannosidosis adult-onset form											GTR:AN0103810|GTR:AN0103811|ICD10:E77.1|UMLS:CN036949|Orphanet:309288																		owl:Class
MONDO:0010778	biolink:NamedThing	cyclic vomiting syndrome	A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.	mondoexuq1wtf	cyclic vomiting syndrome|Cvs-plus|cyclic vomiting syndrome with neuromuscular disease|CVS|cyclic vomiting syndrome-plus											GARD:0006230|OMIM:500007																		owl:Class
MONDO:0033948	biolink:NamedThing	acquired angioedema with C1Inh deficiency		mondoexuq1wtf												Orphanet:528663																		owl:Class
MONDO:0009264	biolink:NamedThing	gastroschisis	Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.	mondoexuq1wtf	gastroschisis|congenital fissure of the abdominal cavity|laparoschisis|eventration|abdominal wall defects											UMLS:C0265706|ICD10:Q79.3|DOID:11044|NCIT:C84725|Orphanet:2368|COHD:4218764|GARD:0008661|SCTID:72951007|MESH:D020139|OMIM:230750|EFO:1000949|ICD9:756.73|MedDRA:10018046														https://rarediseases.info.nih.gov/diseases/8661/gastroschisis				owl:Class
MONDO:0015215	biolink:NamedThing	non-syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.	mondoexuq1wtf	isolated diaphragmatic or abdominal wall malformation|nonsyndromic diaphragmatic or abdominal wall malformation											Orphanet:108977																		owl:Class
MONDO:0015293	biolink:NamedThing	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.	mondoexuq1wtf	SOLAMEN syndrome											Orphanet:137608|UMLS:CN199243|SCTID:763867001																		owl:Class
MONDO:0010884	biolink:NamedThing	muscular dystrophy, scapulohumeral		mondoexuq1wtf	muscular dystrophy, scapulohumeral											UMLS:C0410192|MESH:C562932|SCTID:240074006|OMIM:600416																		owl:Class
MONDO:0007478	biolink:NamedThing	autosomal dominant Kenny-Caffey syndrome	An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.	mondoexuq1wtf	KCS2|Kenny-Caffey syndrome, type 2|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|dwarfism, cortical thickening of tubular bones and transient hypocalcemia|Kenny-Caffey syndrome type 2|Kenny syndrome|Kenny-Caffey syndrome, autosomal dominant											OMIM:127000|GARD:0000083|ICD10:Q87.1|NCIT:C130993|Orphanet:93325|UMLS:CN031291														https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2				owl:Class
MONDO:0014040	biolink:NamedThing	autosomal recessive osteopetrosis 8	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.	mondoexuq1wtf	autosomal recessive osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive type 8|SNX10 autosomal recessive malignant osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive 8|OPTB8|autosomal recessive osteopetrosis type 8|SNX10 autosomal recessive osteopetrosis											UMLS:C3554478|DOID:0110940|NCIT:C150556|OMIM:615085																		owl:Class
MONDO:0003091	biolink:NamedThing	cutaneous mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the zone of skin.	mondoexuq1wtf	mucoepidermoid skin carcinoma|zone of skin mucoepidermoid carcinoma											NCIT:C4472|UMLS:C0346019|SCTID:254713002|DOID:4683																		owl:Class
MONDO:0006781	biolink:NamedThing	Helicobacter pylori infectious disease	Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.	mondoexuq1wtf	Helicobacter infection|Helicobacter pylori infection, susceptibility to|Helicobacter pylori disease or disorder|infection, Helicobacter|infections, Helicobacter|Helicobacter pylori caused disease or disorder											MESH:D016481|EFO:1000961																		owl:Class
MONDO:0023176	biolink:NamedThing	formaldehyde poisoning		mondoexuq1wtf	Formalin intoxication|formaldehyde toxicity|formaldehyde exposure|Formalin toxicity											GARD:0002361|MESH:C537268														https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning				owl:Class
MONDO:0023605	biolink:NamedThing	Laugier-Hunziker syndrome		mondoexuq1wtf	Laugier-Hunziker syndrome|Laugier and Hunziker pigmentation|LHS											GARD:0009669|SCTID:238706002|UMLS:C0406425|ICD9:528.9														https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome				owl:Class
MONDO:0006198	biolink:NamedThing	endometrial squamous cell carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.	mondoexuq1wtf	endometrium squamous cell carcinoma|endometrial squamous cell carcinoma|squamous cell carcinoma of the endometrium|squamous cell carcinoma of endometrium											UMLS:C1333396|DOID:5533|EFO:1000240|NCIT:C8719																		owl:Class
MONDO:0011746	biolink:NamedThing	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch		mondoexuq1wtf	distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch|symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch											UMLS:C1847185|GARD:0008554|OMIM:606895|MESH:C538148														https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch				owl:Class
MONDO:0009872	biolink:NamedThing	Bjornstad syndrome	Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.	mondoexuq1wtf	deafness-pili torti-hypogonadism syndrome|PTND|BJörnstad syndrome|BJS|pili torti-sensorineural hearing loss|pili torti and nerve deafness|PTD|Bjornstad syndrome|deafness and pili torti, Bjornstad type											OMIM:262000|UMLS:C0266006|GARD:0000022|DOID:0050677|EFO:0002779|MESH:C537633|Orphanet:123														https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome				owl:Class
MONDO:0100305	biolink:NamedThing	bile acid CoA:amino acid N-acyltransferase deficiency	Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.	mondoexuq1wtf	BAAT deficiency|bile acid CoA:amino acid N-acyltransferase deficiency							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100304	biolink:NamedThing	disorder of bile acid aminotransferase	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.	mondoexuq1wtf	disorder of bile acid aminotransferase							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0016942	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 5		mondoexuq1wtf	partial duplication/triplication of the short arm of chromosome 5|partial trisomy/tetrasomy of chromosome 5p|partial trisomy/tetrasomy of the short arm of chromosome type 5|partial duplication/triplication of chromosome 5p											Orphanet:262725																		owl:Class
MONDO:0014363	biolink:NamedThing	autosomal recessive nonsyndromic deafness 101	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.	mondoexuq1wtf	deafness, autosomal recessive type 101|autosomal recessive nonsyndromic deafness type 101|DFNB101|deafness, autosomal recessive 101|autosomal recessive deafness 101|GRXCR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2											DOID:0110462|UMLS:C3892049|OMIM:615837|ICD10:H90.3																		owl:Class
MONDO:0018017	biolink:NamedThing	goblet cell carcinoma	Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.	mondoexuq1wtf	goblet cell carcinoma|carcinoma of goblet cell|goblet cell carcinoid|GCC|mucinous carcinoid|goblet cell adenocarcinoid|goblet cell tumor											Orphanet:329984|ICD10:C18.1|GARD:0010414																		owl:Class
MONDO:0014695	biolink:NamedThing	glioma susceptibility 9	Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene.	mondoexuq1wtf	glioma susceptibility 9|malignant glioma caused by mutation in POT1|malignant glioma caused by mutation in Pot1|GLM9|POT1 malignant glioma|Pot1 malignant glioma|glioma susceptibility type 9											OMIM:616568																		owl:Class
MONDO:0009164	biolink:NamedThing	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts		mondoexuq1wtf	Lyon syndrome|encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts											UMLS:C1856990|MESH:C565596|OMIM:225740																		owl:Class
MONDO:0016123	biolink:NamedThing	muscular tumor		mondoexuq1wtf						Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired.						Orphanet:206982																		owl:Class
MONDO:0008344	biolink:NamedThing	pulmonary edema of mountaineers, susceptibility to		mondoexuq1wtf	HAPH|high altitude pulmonary hypertension|pulmonary edema of mountaineers, susceptibility to|pulmonary edema of mountaineers											MESH:C535833|ICD9:416.8|GARD:0008348|ICD9:993.2|OMIM:178400|SCTID:233954004																		owl:Class
MONDO:0000153	biolink:NamedThing	transposition of the great arteries	A congenital cardiac defect in which two heart vessels are reversed (transposed).	mondoexuq1wtf	complete transposition|transposition of the great vessels|TGV|TGA|transposition of great vessels|great vessels transposition											NCIT:C84742|ICD10:Q20.3|DC:0000602|MESH:D014188|ICD10:Q20.5|Orphanet:216675																		owl:Class
MONDO:0002046	biolink:NamedThing	alcohol abuse	The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.	mondoexuq1wtf	alcohol abuse|alcohol addiction|alcoholism|alcoholic intoxication, chronic|alcohol dependence|alcohol use disorder|addiction, alcohol|intoxication, chronic alcoholic|dependence, alcohol|ethanol abuse|abuse, alcohol|chronic alcoholic intoxication											DOID:1574|ICD9:305.00|SCTID:15167005|ICD9:305.0|ICD10:F10.1|MESH:D000437|COHD:433753																		owl:Class
MONDO:0100354	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 1		mondoexuq1wtf	megacystis, microcolon, intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|Berdon syndrome|MMIH syndrome|MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|megacystis microcolon intestinal hypoperistalsis syndrome|megacystis, microcolon, hypoperistalsis syndrome							http://orcid.org/0000-0001-5208-3432				GARD:0003442|SCTID:253781004|DOID:0060610|NCIT:C98982|OMIM:249210|ICD10:Q43.8|UMLS:C1608393|MESH:C536138|Orphanet:2241																		owl:Class
MONDO:0025986	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome		mondoexuq1wtf												OMIMPS:249210																		owl:Class
MONDO:0001469	biolink:NamedThing	cascade stomach		mondoexuq1wtf	hourglass stricture or stenosis of stomach											ICD10:K31.2|UMLS:C0267183|SCTID:54051005|DOID:12234|ICD9:537.6																		owl:Class
MONDO:0008743	biolink:NamedThing	Stimmler syndrome	Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	mondoexuq1wtf	Stimmler syndrome|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus|ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus											SCTID:733072002|MESH:C565968|OMIM:202900|UMLS:C1859965|GARD:0005026|Orphanet:3199																		owl:Class
MONDO:0006041	biolink:NamedThing	lung carcinoid tumor	A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.	mondoexuq1wtf	pulmonary carcinoid tumor|carcinoid tumor of the lung|lung carcinoid tumor|carcinoid tumor (disease) of lung|lung carcinoid tumor (disease)|carcinoid tumor of lung|lung carcinoid											NCIT:C4038|ONCOTREE:LUCA|EFO:1000037|SCTID:254627002|UMLS:C0280089																		owl:Class
MONDO:0010685	biolink:NamedThing	myopia 1, X-linked		mondoexuq1wtf	myopia 1, X-linked|MYP1											OMIM:310460|UMLS:C1839612|MESH:C564091																		owl:Class
MONDO:0002620	biolink:NamedThing	localized osteosarcoma	A non-disseminated osteosarcoma.	mondoexuq1wtf	localized osteogenic sarcoma|osteosarcoma, localized|localized osteosarcoma											DOID:3356|UMLS:C0278511|NCIT:C7780																		owl:Class
MONDO:0022682	biolink:NamedThing	cennamo gangemi syndrome		mondoexuq1wtf	hydrocephalus cataract microphthalmos											GARD:0001179														https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome				owl:Class
MONDO:0011177	biolink:NamedThing	ectodermal dysplasia 4, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.	mondoexuq1wtf	pure hair and nail ectodermal dysplasia caused by mutation in KRT85|ECTD4|twisted hair with nail dysplasias|ectodermal dysplasia 4, hair/nail type|KRT85 pure hair and nail ectodermal dysplasia|ectodermal dysplasia, 'Pure' hair/nail type|pili torti onychodysplasia											MESH:C566592|DOID:0111658|OMIM:602032|GARD:0004364																		owl:Class
MONDO:0019071	biolink:NamedThing	pure hair and nail ectodermal dysplasia	Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.	mondoexuq1wtf	PHNED|HNED|hair-nail ectodermal dysplasia											Orphanet:69084|DOID:0111655																		owl:Class
MONDO:0001074	biolink:NamedThing	chronic tic disorder	A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.	mondoexuq1wtf	chronic motor or vocal tic disorder|tic disorder, chronic											DOID:10600|NCIT:C116768|ICD9:307.22|ICD10:F95.1																		owl:Class
MONDO:0008992	biolink:NamedThing	Juberg-Hayward syndrome	Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	mondoexuq1wtf	Juberg-Hayward syndrome|cleft lip/palate-abnormal thumbs-microcephaly syndrome|JHS|Orocraniodigital syndrome|cleft LIP/palate with abnormal thumbs and microcephaly											SCTID:721874001|GARD:0003060|ICD10:Q87.0|Orphanet:2319|OMIM:216100|MESH:C537690|UMLS:C0796099														https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome				owl:Class
MONDO:0005574	biolink:NamedThing	tauopathy	Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.	mondoexuq1wtf												EFO:0005815|MESH:D024801|DOID:680|UMLS:C0949664																		owl:Class
MONDO:0030008	biolink:NamedThing	combined oxidative phosphorylation deficiency 42		mondoexuq1wtf	combined oxidative phosphorylation deficiency 42|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42|COXPD42											OMIM:618839																		owl:Class
MONDO:0012290	biolink:NamedThing	CEDNIK syndrome	CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.	mondoexuq1wtf	cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome											SCTID:722385008|Orphanet:66631|MESH:C537943|ICD10:Q82.8|OMIM:609528|GARD:0009940|DOID:0060337|UMLS:C1836033																		owl:Class
MONDO:0012828	biolink:NamedThing	atrial fibrillation, familial, 7	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.	mondoexuq1wtf	KCNA5 familial atrial fibrillation|atrial fibrillation, familial, type 7|atrial fibrillation, familial, 7|ATFB7|familial atrial fibrillation caused by mutation in KCNA5											OMIM:612240|MESH:C567389|UMLS:C2677106																		owl:Class
MONDO:0018638	biolink:NamedThing	pseudohypoaldosteronism	An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.	mondoexuq1wtf												Orphanet:444916|UMLS:C0033805|SCTID:77098009|NCIT:C85034|ICD9:255.8|MESH:D011546|DOID:4479																		owl:Class
MONDO:0019387	biolink:NamedThing	macrostomia-preauricular tags-external ophthalmoplegia syndrome	Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.	mondoexuq1wtf												UMLS:CN206081|ICD10:Q87.0|Orphanet:83619																		owl:Class
MONDO:0019955	biolink:NamedThing	GRFoma	6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).	mondoexuq1wtf	Growth hormone releasing factor tumor|GRF tumor											Orphanet:97261|UMLS:CN206877|ICD10:E16.8																		owl:Class
MONDO:0032766	biolink:NamedThing	hypoalphalipoproteinemia, primary, 2		mondoexuq1wtf	High Density Lipoprotein Deficiency|Apolipoprotein A-I Deficiency|HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2											OMIM:618463																		owl:Class
MONDO:0030907	biolink:NamedThing	intellectual disability, X-linked 106		mondoexuq1wtf	X-linked intellectual disability 106|MRX106|intellectual disability, X-linked 106|mental retardation, X-linked 106|X-linked mental retardation 106											OMIM:300997|DOID:0080240																		owl:Class
MONDO:0000480	biolink:NamedThing	anismus	A focal dystonia of the pelvic floor muscles during attempted defecation.	mondoexuq1wtf	dyskinetic puborectalis|puborectalis syndrome|sphincteric disobedience syndrome|rectosphincteric dyssynergia|anal region skeletal muscle focal dystonia|spastic pelvic floor syndrome|dyssynergic defecation|focal dystonia of anal region skeletal muscle											SCTID:83605009|UMLS:C0267601|ICD9:569.49|DOID:0050839																		owl:Class
MONDO:0024561	biolink:NamedThing	vitelliform macular dystrophy 3	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	mondoexuq1wtf	VMD3|macular dystrophy, vitelliform, 3|foveomacular dystrophy, adult-onset|vitelliform macular dystrophy, adult-onset|vitelliform macular dystrophy caused by mutation in PRPH2|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization|PRPH2 vitelliform macular dystrophy											OMIM:608161																		owl:Class
MONDO:0011979	biolink:NamedThing	adult-onset foveomacular vitelliform dystrophy	Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.	mondoexuq1wtf	adult-onset foveomacular dystrophy with choroidal neovascularization|adult-onset vitelliform macular dystrophy|macular dystrophy, vitelliform, type 3|AOFMD|VMD3|foveomacular dystrophy, adult-onset, with choroidal neovascularization|adult-onset foveomacular dystrophy|Gass disease|macular dystrophy, vitelliform, 3|pseudo-Best disease|AVMD|macular dystrophy, vitelliform, adult-onset|foveomacular dystrophy, adult-onset; AOFMD|pseudo-vitelliform macular dystrophy											GARD:0010909|UMLS:C1842914|SCTID:232049001|Orphanet:99000|ICD10:H35.5																		owl:Class
MONDO:0020233	biolink:NamedThing	dentocutaneous disease with cataract		mondoexuq1wtf												Orphanet:98649|UMLS:CN207061																		owl:Class
MONDO:0014623	biolink:NamedThing	microcephaly 14, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.	mondoexuq1wtf	SASS6 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in SASS6|microcephaly 14, primary, autosomal recessive|MCPH14											DOID:0070279|OMIM:616402|UMLS:C4225338																		owl:Class
MONDO:0021196	biolink:NamedThing	disease by molecular activity disrupted		mondoexuq1wtf																														owl:Class
MONDO:0011842	biolink:NamedThing	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.	mondoexuq1wtf	frontotemporal dementia with Tdp43 inclusions, Grn-related|aphasia, primary progressive|frontotemporal dementia, ubiquitin-positive|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related											OMIM:607485|DOID:0060672|ICD10:G31.0																		owl:Class
MONDO:0015006	biolink:NamedThing	generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss		mondoexuq1wtf	epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH|epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH											UMLS:C4310631|OMIM:617294|Orphanet:508529																		owl:Class
MONDO:0011379	biolink:NamedThing	medullary cystic kidney disease 2	An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.	mondoexuq1wtf	medullary cystic kidney disease type 2|MCKD2|medullary cystic kidney disease type II|medullary cystic kidney disease 2|medullary cystic kidney disease 2, autosomal dominant											OMIM:603860|NCIT:C123172|UMLS:C4054550|SCTID:445503007|EFO:0008618																		owl:Class
MONDO:0008264	biolink:NamedThing	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).	mondoexuq1wtf	medullary cystic kidney disease|medullary cystic disease|autosomal dominant interstitial kidney disease|autosomal dominant medullary cystic kidney disease|autosomal dominant tubulointerstitial kidney disease|MCKD|autosomal dominant medullary cystic kidney disease with or without hyperuricemia|ADTKD|polycystic kidneys, medullary type											UMLS:C4511620|UMLS:CN204412|MESH:C536137|ICD10:Q61.5|MEDGEN:358137|UMLS:C4054549|Orphanet:34149|MEDGEN:881357|UMLS:CN536252|GARD:0010801|SCTID:444699000|EFO:0008617														https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease				owl:Class
MONDO:0005287	biolink:NamedThing	developmental disability	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	mondoexuq1wtf												MESH:D002658|EFO:0003852																		owl:Class
MONDO:0003777	biolink:NamedThing	renal pelvis urothelial papilloma	A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	mondoexuq1wtf	renal pelvis urothelial papilloma											NCIT:C4528|DOID:6119|UMLS:C1514844																		owl:Class
MONDO:0010793	biolink:NamedThing	nephropathy, chronic tubulointerstitial		mondoexuq1wtf	nephropathy, chronic tubulointerstitial											MESH:C564016|OMIM:551200|UMLS:C1838875																		owl:Class
MONDO:0017153	biolink:NamedThing	pulmonary arterial hypertension associated with HIV infection	Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.	mondoexuq1wtf	PAH associated with HIV infaction											Orphanet:275808|SCTID:697904001|EFO:0009194|ICD9:416.8|UMLS:C3697673|ICD10:I27.2																		owl:Class
MONDO:0009885	biolink:NamedThing	Scott syndrome	Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.	mondoexuq1wtf	Platelet factor X receptor deficiency|familial prothrombin conversion defect|familial prothrombin consumption inhibitor|bleeding disorder, Platelet-type, 7|SCTS|prothrombin consumption inhibitor, familial|bleeding abnormality due to deficiency of platelet biding of factor X|platelet-type bleeding disorder 7|bleeding Abnormality due to deficiency of Platelet binding of Factor 10|Scott syndrome|BDPLT7|prothrombin conversion defect, familial|prothrombin consumption deficiency											GARD:0004777|SCTID:128098009|DOID:0111052|MESH:C563120|Orphanet:806|OMIM:262890|ICD10:D69.8|UMLS:C0796149														https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome				owl:Class
MONDO:0013128	biolink:NamedThing	familial juvenile hyperuricemic nephropathy type 2	Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).	mondoexuq1wtf	familial juvenile hyperuricemic nephropathy type 2|early-onset hyperuricemia, Anemia, and progressive kidney failure|REN familial juvenile hyperuricemic nephropathy|REN-associated familial juvenile hyperuricemic nephropathy|REN-associated FJHN|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|hyperuricemic nephropathy, familial juvenile, type 2|FJHN type 2|ADTKD-REN|hyperuricemic nephropathy, familial juvenile, 2|HNFJ2|familial juvenile hyperuricemic nephropathy caused by mutation in REN|REN-related autosomal dominant tubulointerstitial kidney disease|REN-associated kidney disease											SCTID:721840000|MESH:C567760|OMIM:613092|Orphanet:217330																		owl:Class
MONDO:0019875	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 microduplication		mondoexuq1wtf												Orphanet:96076|UMLS:CN206810|ICD10:Q87.3																		owl:Class
MONDO:0003190	biolink:NamedThing	middle ear carcinoma	A carcinoma that arises from epithelial cells of the middle ear	mondoexuq1wtf	middle Ear carcinoma|carcinoma of middle ear|carcinoma of middle Ear|carcinoma of the middle Ear|middle ear carcinoma|carcinoma of the middle ear											NCIT:C6089|UMLS:C1334760|DOID:4893																		owl:Class
MONDO:0015237	biolink:NamedThing	arrhinia	Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.	mondoexuq1wtf	isolated nose agenesis|isolated arrhinia|congenital absence of the nose|Nose agenesis|Nose agenesia											MESH:C537438|GARD:0000364|ICD10:Q30.1|Orphanet:1134|ICD9:748.1|SCTID:111317000														https://rarediseases.info.nih.gov/diseases/364/arrhinia				owl:Class
MONDO:0045034	biolink:NamedThing	infectious disease characteristic		mondoexuq1wtf																														owl:Class
MONDO:0013441	biolink:NamedThing	asphyxiating thoracic dystrophy 4	An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.	mondoexuq1wtf	asphyxiating thoracic dystrophy 4|asphyxiating thoracic dystrophy type 4|SRTD4|ATD4|short-rib thoracic dysplasia 4 with or without polydactyly											DOID:0110088|OMIM:613819|ICD10:Q77.2|UMLS:C3151185																		owl:Class
MONDO:0024495	biolink:NamedThing	tumor grade 1 or 2, general grading system		mondoexuq1wtf	grade 1/2																													owl:Class
MONDO:0007911	biolink:NamedThing	lipoprotein, variant of beta		mondoexuq1wtf	Beta-lipoprotein, Double|lipoprotein, variant of beta											OMIM:152400																		owl:Class
MONDO:0004486	biolink:NamedThing	endocervical type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.	mondoexuq1wtf	cervical adenomyoma, endocervical type											DOID:8177|UMLS:C1516405|NCIT:C40232																		owl:Class
MONDO:0001690	biolink:NamedThing	parasitic conjunctivitis		mondoexuq1wtf												ICD9:372.15|DOID:13341|UMLS:C0155148|SCTID:13816006																		owl:Class
MONDO:0008600	biolink:NamedThing	trigger thumb	A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).	mondoexuq1wtf	trigger thumb|congenital trigger thumb (type)|bilateral trigger thumb (type)|recurrent trigger thumb (type)											OMIM:190410|MESH:D052582|GARD:0008484|SCTID:42786005|UMLS:C0158328														https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb				owl:Class
MONDO:0024673	biolink:NamedThing	skin lymphangioma	A lymphangioma arising from the skin.	mondoexuq1wtf	skin lymphangioma|cutaneous lymphangioma											UMLS:C1333176|NCIT:C27509																		owl:Class
MONDO:0033655	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 20		mondoexuq1wtf	MC4DN20											OMIM:619064																		owl:Class
MONDO:0012388	biolink:NamedThing	myopia 11, autosomal dominant		mondoexuq1wtf	MYP11|myopia 11, autosomal dominant											OMIM:609994|MESH:C566490|UMLS:C1864941																		owl:Class
MONDO:0012548	biolink:NamedThing	Kostmann syndrome	Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.	mondoexuq1wtf	SCN3|Kostmann disease|severe congenital neutropenia autosomal recessive 3|agranulocytosis infantile|agranulocytosis, infantile|neutropenia, severe congenital, 3, autosomal recessive|severe congenital neutropenia type 3|infantile agranulocytosis											ICD10:D70|GARD:0000302|Orphanet:99749|OMIM:610738|UMLS:CN032247																		owl:Class
MONDO:0019406	biolink:NamedThing	craniofacial conodysplasia	Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	mondoexuq1wtf												Orphanet:85168|ICD10:Q87.5																		owl:Class
MONDO:0003500	biolink:NamedThing	squamous cell bile duct carcinoma	A squamous cell carcinoma that involves the bile duct.	mondoexuq1wtf	bile duct squamous cell carcinoma											UMLS:C0861861|DOID:5537																		owl:Class
MONDO:0032820	biolink:NamedThing	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES|NEDBAF											OMIM:618577																		owl:Class
MONDO:0022220	biolink:NamedThing	Parinaud syndrome	A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.	mondoexuq1wtf	Parinaud syndrome|vertical gaze palsy - Parinaud|syndrome, Parinaud's|paralysis of vertical movement|Parinaud's ophthalmoplegia|syndrome, Parinaud|dorsal midbrain syndrome|Parinauds syndrome|Parinaud's syndrome											SCTID:37991008|UMLS:C0152222|NCIT:C54102|MEDGEN:57754																		owl:Class
MONDO:0016620	biolink:NamedThing	primary hypertrophic osteoarthropathy	Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.	mondoexuq1wtf	idiopathic hypertrophic osteoarthropathy|pachydermoperiostosis of nail [ambiguous]|PHO|hypertropic osteoarthropathy, primary|pachydermoperiostosis syndrome|pachydermoperiostosis of nail|hypertrophic osteoarthropathy, primary											DOID:14283|ICD10:M89.4|UMLS:C0029411|DC:0000680|NCIT:C85023|MESH:D010004|Orphanet:248095|OMIMPS:259100																		owl:Class
MONDO:0033809	biolink:NamedThing	isolated blepharochalasis		mondoexuq1wtf												Orphanet:519390																		owl:Class
MONDO:0015201	biolink:NamedThing	ankyloblepharon filiforme-imperforate anus syndrome	An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	ankyloblepharon filiforme adnatum-imperforate anus syndrome|Aughton-Hufnagle syndrome											UMLS:CN197555|Orphanet:1074|ICD10:Q87.8																		owl:Class
MONDO:0009731	biolink:NamedThing	nephrosis-deafness-urinary tract-digital malformations syndrome	Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.	mondoexuq1wtf	Braun-Bayer syndrome|nephrosis with deafness and urinary tract and digital malformations|nephrosis deafness urinary tract digital malformation											GARD:0003943|Orphanet:2669|UMLS:C1850552|ICD10:Q87.8|OMIM:256200|MESH:C536402																		owl:Class
MONDO:0000882	biolink:NamedThing	myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia.	mondoexuq1wtf	myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement											UMLS:C2827360|NCIT:C84275|ONCOTREE:MLNPDGFRA|DOID:0080165|ICDO:9965/3																		owl:Class
MONDO:0004328	biolink:NamedThing	maxillary sinus adenocarcinoma	An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.	mondoexuq1wtf	maxillary sinus adenocarcinoma|adenocarcinoma of the maxillary sinus|adenocarcinoma of maxillary sinus											SCTID:707339009|UMLS:C1334642|DOID:7684|NCIT:C6240																		owl:Class
MONDO:0020801	biolink:NamedThing	rectal medullary carcinoma	A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	mondoexuq1wtf	rectal medullary carcinoma											NCIT:C60640																		owl:Class
MONDO:0020794	biolink:NamedThing	colorectal medullary carcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	mondoexuq1wtf	colorectal medullary carcinoma											NCIT:C43590																		owl:Class
MONDO:0033282	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 5		mondoexuq1wtf	multiple mitochondrial dysfunctions syndrome 5|MMDS5											UMLS:CN388855|OMIM:617613|DOID:0080274																		owl:Class
MONDO:0002117	biolink:NamedThing	pancreas sarcoma	A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.	mondoexuq1wtf	sarcoma of the pancreas|sarcoma of pancreas|pancreatic sarcoma|pancreas sarcoma											DOID:1796|UMLS:C1096346|NCIT:C5715																		owl:Class
MONDO:0007933	biolink:NamedThing	vitelliform macular dystrophy 1		mondoexuq1wtf	macular dystrophy, atypical vitelliform|macular dystrophy, vitelliform, 1|vitelliform macular dystrophy, atypical|VMD1											OMIM:153840|MESH:C537832|GARD:0010120																		owl:Class
MONDO:0006367	biolink:NamedThing	pharyngeal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the pharynx.	mondoexuq1wtf	pharynx adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the pharynx|adenoid cystic carcinoma of pharynx|pharyngeal adenoid cystic carcinoma											UMLS:C1335399|NCIT:C5818|EFO:1000472																		owl:Class
MONDO:0054865	biolink:NamedThing	encephalopathy due to mitochondrial and peroxisomal fission defect		mondoexuq1wtf	encephalopathy due to defective mitochondrial and peroxisomal fission|encephalopathy due to mitochondrial and peroxisomal fission defect											Orphanet:527276|OMIMPS:614388																		owl:Class
MONDO:0000229	biolink:NamedThing	Indian tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. coronorii.	mondoexuq1wtf												Orphanet:101335|DOID:0050042																		owl:Class
MONDO:0013483	biolink:NamedThing	obesity, hyperphagia, and developmental delay		mondoexuq1wtf	obesity, hyperphagia, and developmental delay|OBHD											MESH:C563938|OMIM:613886|UMLS:C3151303																		owl:Class
MONDO:0013729	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 3	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.	mondoexuq1wtf	pregnancy loss, recurrent, susceptibility to, type 3|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|ANXA5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 3|RPRGL3											OMIM:614391																		owl:Class
MONDO:0100006	biolink:NamedThing	secondary mast cell activation syndrome	Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.	mondoexuq1wtf	secondary MACS				2018-07-17 21:45:26+00:00																									owl:Class
MONDO:0011631	biolink:NamedThing	hemochromatosis type 4	Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	mondoexuq1wtf	hereditary hemochromatosis caused by mutation in SLC40A1|hemochromatosis, autosomal dominant|hemochromatosis due to defect in ferroportin|hemochromatosis, type 4|SLC40A1 hereditary hemochromatosis|HFE4|ferroportin disease|autosomal dominant hereditary hemochromatosis											GARD:0010094|Orphanet:139491|OMIM:606069|UMLS:C1853733|SCTID:719975002|ICD10:E83.1|MESH:C537249|DOID:0111028														https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4				owl:Class
MONDO:0012314	biolink:NamedThing	short QT syndrome type 3	Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.	mondoexuq1wtf	KCNJ2 short QT syndrome|short QT syndrome type 3|short QT syndrome 3|SQT3|short QT syndrome caused by mutation in KCNJ2											MESH:C566504|UMLS:C1865018|OMIM:609622																		owl:Class
MONDO:0000453	biolink:NamedThing	short QT syndrome	A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified	mondoexuq1wtf	ventricular arrhythmia associated with short QT syndrome|familial short QT syndrome											UMLS:C2348199|Orphanet:51083|SCTID:698272007|MESH:C580439|DOID:0050793|NCIT:C71060|ICD10:I49.8|OMIMPS:609620|ICD9:426.89																		owl:Class
MONDO:0017577	biolink:NamedThing	spontaneous periodic hypothermia	Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.	mondoexuq1wtf	Shapiro syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|spontaneous periodic hypothermia syndrome|Shapiro's syndrome|episodic spontaneous hypothermia|spontaneous recurrent hypothermia syndrome											Orphanet:29822|GARD:0004815|UMLS:C2931542|MESH:C537594|ICD10:G90.8																		owl:Class
MONDO:0001830	biolink:NamedThing	somatization disorder	Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)	mondoexuq1wtf	Briquet's disorder|Somatisation disorder|Polysomatising disorder											ICD9:300.81|SCTID:397923000|COHD:441545|ICD10:F45.0|DOID:13918																		owl:Class
MONDO:0011976	biolink:NamedThing	lipodystrophy-intellectual disability-deafness syndrome	Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	mondoexuq1wtf	lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones|Rajab-Spranger syndrome|lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones											SCTID:721973006|MESH:C564283|Orphanet:50811|ICD10:Q78.8|OMIM:608154																		owl:Class
MONDO:0010106	biolink:NamedThing	testes, rudimentary		mondoexuq1wtf	testes, rudimentary											OMIM:273150																		owl:Class
MONDO:0014892	biolink:NamedThing	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		mondoexuq1wtf	autosomal dominant non-syndromic intellectual disability 44|MEBAS|autosomal dominant mental retardation 44|MRD44|intellectual disability, autosomal dominant 44|autosomal dominant intellectual disability 44|mental retardation, autosomal dominant 44|mercer-Ba syndrome											UMLS:C4310740|Orphanet:476126|DOID:0070074|OMIM:617061																		owl:Class
MONDO:0009343	biolink:NamedThing	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect		mondoexuq1wtf	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect|Hirschsprung disease polydactyly heart disease											OMIM:235750|GARD:0002696|MESH:C565517|UMLS:C1856111|MESH:C538120														https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease				owl:Class
MONDO:0020638	biolink:NamedThing	superficial spreading melanoma	A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.	mondoexuq1wtf	superficial spreading melanoma of skin|SSM|superficial spreading malignant melanoma of skin|superficial spreading melanoma|superficial spreading melanoma of the skin|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant skin melanoma|superficial spreading malignant melanoma of the skin|pagetoid melanoma|cutaneous superficial spreading melanoma											SCTID:254730000|ICDO:8743/3|NCIT:C9152																		owl:Class
MONDO:0023119	biolink:NamedThing	familial myelofibrosis		mondoexuq1wtf												GARD:0008516|MESH:C536848|UMLS:C2931351														https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis				owl:Class
MONDO:0007408	biolink:NamedThing	cryptotia, familial		mondoexuq1wtf	cryptotia, familial											OMIM:123557|MESH:C565140|UMLS:C1852455																		owl:Class
MONDO:0100131	biolink:NamedThing	pediatric acute respiratory distress syndrome	Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.	mondoexuq1wtf	PARDS							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006502	biolink:NamedThing	acute respiratory distress syndrome	Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.	mondoexuq1wtf	non-cardiogenic pulmonary edema|ALI|acute respiratory distress syndrome|shock lung|increased-permeability pulmonary edema|Stiff lung|acute lung injury|ARDS					This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586]						MedDRA:10001052|EFO:1000637|GARD:0005698|COHD:4195694|NCIT:C3353|ICD10:J80																		owl:Class
MONDO:0017861	biolink:NamedThing	ethylene glycol poisoning	Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.	mondoexuq1wtf												SCTID:426692001|ICD10:T52.8|ICD9:982.8|Orphanet:31826																		owl:Class
MONDO:0016323	biolink:NamedThing	chronic respiratory distress with surfactant metabolism deficiency		mondoexuq1wtf												ICD10:J84.8|Orphanet:217566																		owl:Class
MONDO:0017032	biolink:NamedThing	primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder		mondoexuq1wtf	primary ILD in childhood and adulthood due to alveolar structure disorder											UMLS:CN202344|Orphanet:264930																		owl:Class
MONDO:0016142	biolink:NamedThing	qualitative or quantitative defects of beta-sarcoglycan		mondoexuq1wtf	beta-sarcoglycanopathy											HGNC:10806|MESH:C535435|GARD:0000870|UMLS:C2930900|Orphanet:207063																		owl:Class
MONDO:0012291	biolink:NamedThing	immunoglobulin A deficiency 2	Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.	mondoexuq1wtf	IgA, selective deficiency of, TACI related|selective IgA deficiency disease caused by mutation in TNFRSF13B|Immunoglobulin A, selective deficiency of, TACI-related|immunoglobulin a deficiency 2|IGAD2|TNFRSF13B selective IgA deficiency disease|IMMUNOGLOBULIN A deficiency 2|Immunoglobulin a deficiency type 2|Immunoglobulin A, selective deficiency of, TACI related|IgA, selective deficiency of, TACI-related											GARD:0010198|OMIM:609529|MESH:C536291|UMLS:C1836032														https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2				owl:Class
MONDO:0001341	biolink:NamedThing	selective IgA deficiency disease	A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.	mondoexuq1wtf	deficiency, IgA|selective IgA immunodeficiency|IgA deficiencies|gamma-A-globulin deficiency|deficiencies, IgA|selective immunoglobulin A deficiency|immunoglobulin A deficiency|IgA deficiency|immunoglobulin alpha deficiency											NCIT:C26964|EFO:1001929|DOID:11701|UMLS:C0162538|DOID:0060025|MESH:D017098|DC:0000223|SCTID:29260007|UMLS:C4049006																		owl:Class
MONDO:0012914	biolink:NamedThing	chromosome 1q21.1 deletion syndrome	1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.	mondoexuq1wtf	1q21.1 microdeletion syndrome|1q21.1 microdeletion|chromosome 1q21.1 deletion syndrome, 1.35-MB|chromosome 1q21.1 microdeletion syndrome|monosomy 1q21.1|Del(1)(q21)											ICD10:Q93.5|DOID:0060411|OMIM:612474|SCTID:699305004|GARD:0010813|Orphanet:250989|ICD9:758.33																		owl:Class
MONDO:0016900	biolink:NamedThing	partial deletion of the long arm of chromosome 1		mondoexuq1wtf	partial monosomy of the long arm of chromosome 1|partial deletion of the long arm of chromosome type 1|partial deletion of chromosome 1q|partial monosomy of chromosome 1q											Orphanet:262001|ICD10:Q93.5																		owl:Class
MONDO:0011920	biolink:NamedThing	autosomal dominant nonsyndromic deafness 48	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.	mondoexuq1wtf	deafness, autosomal dominant 48|MYO1A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 48|autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|DFNA48|autosomal dominant nonsyndromic deafness type 48|autosomal dominant deafness 48											OMIM:607841|ICD10:H90.3|MESH:C564322|DOID:0110571|UMLS:C1842939																		owl:Class
MONDO:0017846	biolink:NamedThing	autosomal dominant spastic ataxia	Autosomal dominant form of spastic ataxia.	mondoexuq1wtf	spastic ataxia, autosomal dominant|AD-SPAX											Orphanet:316235|UMLS:CN229111|ICD10:G11.4																		owl:Class
MONDO:0006621	biolink:NamedThing	vulvar inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.	mondoexuq1wtf	inverted follicular keratosis of mammalian vulva|mammalian vulva inverted follicular keratosis											NCIT:C40291|DOID:6943|UMLS:C1520084|EFO:1000778																		owl:Class
MONDO:0013133	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 5		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, type 5|CMM5|susceptibility to cutaneous malignant melanoma 5|melanoma, cutaneous malignant, susceptibility to, 5											OMIM:613099																		owl:Class
MONDO:0006740	biolink:NamedThing	empty sella syndrome	Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.	mondoexuq1wtf	empty sella|empty sella syndrome|empty sella turcica											SCTID:237722004|MedDRA:10014567|MESH:D004652|NCIT:C84686|EFO:1000914|GARD:0006331|ICD9:253.8|UMLS:C0014008|DOID:3642														https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome				owl:Class
MONDO:0006563	biolink:NamedThing	inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.	mondoexuq1wtf	inverted folicular keratosis|inverted follicular keratosis											UMLS:C0334019|EFO:1000717|SCTID:394728005|ICD9:264.8|Wikipedia:Inverted_follicular_keratosis|NCIT:C9007|DOID:6945																		owl:Class
MONDO:0001628	biolink:NamedThing	tinea unguium	A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.	mondoexuq1wtf	cellulitis and abscess of face|cellulitis and abscess of upper arm and forearm|onychomycosis|tinea unguium|dermatophytic onychia|cellulitis and abscess of finger|dermatophytic onychomycosis|cellulitis and abscess of buttock|nail dermatophytosis|dermatophytosis of nail|cellulitis and abscess of trunk|onychomycosis due to dermatophyte|cellulitis and abscess of gluteal region|cellulitis and abscess of finger and toe|cellulitis and abscess											UMLS:C0040261|MESH:D014009|UMLS:C4082762|UMLS:C0157698|UMLS:C0157690|UMLS:C0157696|UMLS:C0157701|ICD9:681.9|DOID:13074|UMLS:C0157691|ICD10:B35.1|NCIT:C112214																		owl:Class
MONDO:0030134	biolink:NamedThing	oculopharyngodistal myopathy 2		mondoexuq1wtf	OPDM2|OCULOPHARYNGODISTAL MYOPATHY 2|oculopharyngodistal myopathy 2											OMIM:618940																		owl:Class
MONDO:0032927	biolink:NamedThing	triokinase and FMN cyclase deficiency syndrome		mondoexuq1wtf	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME|TKFCD											OMIM:618805																		owl:Class
MONDO:0032880	biolink:NamedThing	developmental and epileptic encephalopathy, 82		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82|EIEE82|Got2 Deficiency|epileptic encephalopathy, early infantile, 82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of|DEE82											OMIM:618721																		owl:Class
MONDO:0019794	biolink:NamedThing	autosomal dominant cerebellar ataxia type IV		mondoexuq1wtf	ADCAIV|autosomal dominant cerebellar ataxia type IV|autosomal dominant cerebellar ataxia type 4|ADCA4											ICD10:G11.8|Orphanet:94149|UMLS:CN229225																		owl:Class
MONDO:0017288	biolink:NamedThing	DICER1 syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.	mondoexuq1wtf	PPB familial tumor susceptibility syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1 syndrome|DICER1-related pleuropulmonary blastoma|pleuropulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|PPBFTDS											UMLS:CN240512|Orphanet:284343|UMLS:C3839822|UMLS:CN202862|GARD:0010734|NCIT:C123317|SCTID:702411003|EFO:0009068|ICD9:199.1														https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome				owl:Class
MONDO:0005903	biolink:NamedThing	pericardial tuberculosis	Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.	mondoexuq1wtf	tuberculous pericarditis											EFO:0007426|DOID:4962|UMLS:C0031049|ICD10:A18.84|SCTID:67256000|ICD9:017.90|MESH:D010495																		owl:Class
MONDO:0015480	biolink:NamedThing	coloboma of superior eyelid	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	mondoexuq1wtf	superior palpebral coloboma					Editor note: TODO axioms						ICD10:Q10.3|SCTID:763132003|Orphanet:155884																		owl:Class
MONDO:0020494	biolink:NamedThing	oculootodental syndrome	Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	mondoexuq1wtf	OOD											ICD10:K00.2|UMLS:C2750325|Orphanet:99806																		owl:Class
MONDO:0041086	biolink:NamedThing	mixed anxiety and depressive disorder		mondoexuq1wtf	anxiety depression|mixed anxiety and depressive disorder											SCTID:231504006																		owl:Class
MONDO:0006288	biolink:NamedThing	malignant adrenal gland pheochromocytoma	A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.	mondoexuq1wtf	malignant adrenal medullary paraganglioma|malignant pheochromocytoma|adrenal gland pheochromocytoma, malignant|malignant adrenal gland paraganglioma|malignant adrenal pheochromocytoma|malignant adrenal gland chromaffin neoplasm|malignant adrenal gland chromaffin tumor|malignant adrenal gland chromaffin paraganglioma|malignant adrenal medullary pheochromocytoma|malignant adrenal gland pheochromocytoma|pheochromoblastoma|pheochromocytoma, malignant|malignant adrenal gland Chromaffinoma											NCIT:C4220|ICDO:8700/3|SCTID:21851000119103|EFO:1000348|UMLS:C0334419|DOID:0080347																		owl:Class
MONDO:0004886	biolink:NamedThing	diffuse secondary choroid atrophy		mondoexuq1wtf												SCTID:193463006|UMLS:C0154892|ICD9:363.42|DOID:981|ICD10:H31.12																		owl:Class
MONDO:0008900	biolink:NamedThing	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.	mondoexuq1wtf	camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia|camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia											GARD:0001064|OMIM:211930|Orphanet:1321|MESH:C537974|ICD10:Q87.2																		owl:Class
MONDO:0007988	biolink:NamedThing	autosomal dominant primary microcephaly	Autosomal dominant form of microcephaly (disease).	mondoexuq1wtf	autosomal dominant microcephaly|microcephaly, autosomal dominant|microcephaly with autosomal dominant inheritance|microcephaly (disease), autosomal dominant|microcephaly autosomal dominant|autosomal dominant primary microcephaly											MESH:C537323|UMLS:C0220693|ICD10:Q02|Orphanet:2514|DOID:14725|OMIM:156580|GARD:0003605														https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant				owl:Class
MONDO:0018127	biolink:NamedThing	16q24.1 microdeletion syndrome	16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	mondoexuq1wtf	Del(16)(q24.1)|monosomy 16q24.1											ICD10:Q93.5|Orphanet:352629|UMLS:CN204505																		owl:Class
MONDO:0012212	biolink:NamedThing	Loeys-Dietz syndrome 1	A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.	mondoexuq1wtf	LDS1|Loeys-Dietz syndrome 1|Furlong syndrome|TGFBR1 Loeys-Dietz syndrome|aortic aneurysm, familial thoracic 5|Loeys-Dietz aortic aneurysm syndrome|Loeys-Dietz syndrome type 1|Loeys-Dietz syndrome caused by mutation in TGFBR1											NCIT:C75119|GARD:0009458|UMLS:C2697933|Orphanet:97295|DOID:0070235|OMIM:609192																		owl:Class
MONDO:0005346	biolink:NamedThing	gallstones	Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.	mondoexuq1wtf												MESH:D042882|ICD9:574.20|EFO:0004210|SCTID:235919008																		owl:Class
MONDO:0012066	biolink:NamedThing	atrial fibrillation, familial, 1		mondoexuq1wtf	ATFB1|atrial fibrillation, familial, 1|atrial fibrillation, autosomal dominant											MESH:C538261|UMLS:C1843687|OMIM:608583																		owl:Class
MONDO:0001250	biolink:NamedThing	keratomalacia	An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.	mondoexuq1wtf												MESH:C536156|ICD10:H18.44|ICD9:371.45|UMLS:C0152455|GARD:0006825|SCTID:85149007|DOID:11267																		owl:Class
MONDO:0001823	biolink:NamedThing	sick sinus syndrome	A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.	mondoexuq1wtf	sinus node infection|SSS											COHD:4261842|SCTID:36083008|MESH:D012804|ICD10:I49.5|DOID:13884|NCIT:C62244																		owl:Class
MONDO:0008317	biolink:NamedThing	proteolytic capacity of plasma		mondoexuq1wtf	proteolytic capacity of plasma											OMIM:176900																		owl:Class
MONDO:0060622	biolink:NamedThing	neurodevelopmental disorder with severe motor impairment and absent language		mondoexuq1wtf	NEDMIAL|neurodevelopmental disorder with severe motor impairment and absent language											OMIM:617804|UMLS:C4540496																		owl:Class
MONDO:0002569	biolink:NamedThing	gastric dilatation	Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.	mondoexuq1wtf	stomach dilatation											UMLS:C0038353|MESH:D013271|DOID:3229																		owl:Class
MONDO:0001239	biolink:NamedThing	anemia of prematurity	A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.	mondoexuq1wtf	AOP											ICD9:776.6|DOID:11243|COHD:432452|NCIT:C97167|UMLS:C0158996|ICD10:P61.2|SCTID:47100003																		owl:Class
MONDO:0022953	biolink:NamedThing	delta-1-pyrroline-5-carboxylate dehydrogenase deficiency	A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity.	mondoexuq1wtf	disorder of 1-pyrroline-5-carboxylate dehydrogenase activity|1-pyrroline-5-carboxylate dehydrogenase activity disease											GARD:0001798														https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency				owl:Class
MONDO:0003408	biolink:NamedThing	ovarian primitive germ cell tumor	A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.	mondoexuq1wtf	ovarian primitive germ cell tumor											DOID:5351|NCIT:C39986|UMLS:C1518727																		owl:Class
MONDO:0016400	biolink:NamedThing	metal transport or utilization disorder with epilepsy		mondoexuq1wtf												UMLS:CN226914|Orphanet:225692																		owl:Class
MONDO:0060761	biolink:NamedThing	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum		mondoexuq1wtf	NEDEHCC|neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum											OMIM:618090																		owl:Class
MONDO:0017492	biolink:NamedThing	fibular hemimelia, unilateral		mondoexuq1wtf	fibular longitudinal meromelia, unilateral											Orphanet:295081|ICD10:Q72.6																		owl:Class
MONDO:0021183	biolink:NamedThing	HTLV-2 infection		mondoexuq1wtf	Human T-lymphotropic Virus 2 Infection|HTLV-2 infection|Infections, HTLV-II|HTLV-II Infection|HTLV-II Infections|Human T-lymphotropic Virus 2 Infections|Infection, HTLV-II|Human T lymphotropic Virus 2 Infection|Human T lymphotropic Virus 2 Infections|Human T-lymphotropic virus 2 infection|INFECT HTLV II|HTLV II INFECT|Infections, HTLV II|HTLV-II infection											SCTID:425740005|MESH:D015491|EFO:1001349|GARD:0009783|UMLS:C0020102																		owl:Class
MONDO:0021184	biolink:NamedThing	deltaretrovirus infections	Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).	mondoexuq1wtf	HTLV infection|HTLV infections|infections, Deltaretrovirus|HTLV BLV infections|infection, Deltaretrovirus|HTLV-BLV infections|BLV infection|Deltaretrovirus infection|BLV infections|HTLV-BLV infection											MESH:D006800																		owl:Class
MONDO:0012973	biolink:NamedThing	inflammatory bowel disease 26	An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.	mondoexuq1wtf	IBD26|inflammatory bowel disease 26|inflammatory bowel disease type 26											OMIM:612639|MESH:C567217|DOID:0110901|UMLS:C2675249																		owl:Class
MONDO:0023201	biolink:NamedThing	Fryns Smeets Thiry syndrome		mondoexuq1wtf												Orphanet:2058|GARD:0002409														https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome				owl:Class
MONDO:0010930	biolink:NamedThing	anophthalmia plus syndrome	Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	mondoexuq1wtf	anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder|Fryns microphthalmia syndrome|Fryns anophthalmia syndrome|microphthalmia with facial clefting|anophthalmia-plus syndrome|Leichtman Wood Rohn syndrome											ICD10:Q87.8|SCTID:720496006|UMLS:C1833339|OMIM:600776|Orphanet:1104|MESH:C537767|GARD:0000719														https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome				owl:Class
MONDO:0006303	biolink:NamedThing	middle ear squamous cell carcinoma	A rare squamous cell carcinoma that arises from the middle ear.	mondoexuq1wtf	squamous cell carcinoma of middle ear|middle ear squamous cell carcinoma|epidermoid carcinoma of the middle Ear|middle Ear epidermoid carcinoma|epidermoid carcinoma of middle Ear|squamous cell carcinoma of middle Ear|epidermoid carcinoma of the middle ear|squamous cell carcinoma of the middle Ear											DOID:5526|UMLS:C1334762|EFO:1000378|NCIT:C6086																		owl:Class
MONDO:0019083	biolink:NamedThing	Leigh syndrome with cardiomyopathy		mondoexuq1wtf	cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|cardiomyopathy with myopathy due to COX deficiency|Leigh disease with myopathy											Orphanet:70474|UMLS:CN205578|ICD10:G31.8																		owl:Class
MONDO:0002075	biolink:NamedThing	spontaneous tension pneumothorax		mondoexuq1wtf												ICD10:J93.0|UMLS:C0155907|COHD:258787|SCTID:196102003|DOID:1672|ICD9:512.0																		owl:Class
MONDO:0007174	biolink:NamedThing	Lown-Ganong-Levine syndrome	Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).	mondoexuq1wtf	atrial tachyarrhythmia with short PR interval|Lown-Ganong-Levine syndrome|syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|LGL syndrome											MESH:D008151|OMIM:108950|COHD:437892|SCTID:55475008|Orphanet:844|UMLS:C0024054|ICD9:426.81|ICD10:I45.6|MedDRA:10024984|DOID:13087|UMLS:C1862387																		owl:Class
MONDO:0001028	biolink:NamedThing	acute pericementitis	An acute inflammatory process that affects the tissues that surround and support the teeth.	mondoexuq1wtf	periodontitis, acute|acute periodontitis											ICD9:523.3|DOID:10423|SCTID:21638000|ICD9:523.33|NCIT:C34354|UMLS:C0001342|COHD:132943																		owl:Class
MONDO:0011991	biolink:NamedThing	autosomal recessive nonsyndromic deafness 38	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 38|DFNB38|autosomal recessive deafness 38|deafness, autosomal recessive 38											ICD10:H90.3|MESH:C564273|OMIM:608219|UMLS:C1842381|DOID:0110496																		owl:Class
MONDO:0012111	biolink:NamedThing	hypertrophic cardiomyopathy 8	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, type 8|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|cardiomyopathy, familial hypertrophic, 8|MYL3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|hypertrophic cardiomyopathy type 8|CMH8											UMLS:C1837471|OMIM:608751|MESH:C563866|DOID:0110314																		owl:Class
MONDO:0019102	biolink:NamedThing	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.	mondoexuq1wtf												SCTID:721089006|UMLS:CN205609|Orphanet:71267																		owl:Class
MONDO:0044751	biolink:NamedThing	chronic diarrheal disease	Chronic form of diarrheal disease.	mondoexuq1wtf	chronic diarrhea|diarrheal disease, chronic											UMLS:C0401151|SCTID:236071009																		owl:Class
MONDO:0013803	biolink:NamedThing	leukoencephalopathy with calcifications and cysts		mondoexuq1wtf	leukoencephalopathy, brain calcifications, and cysts|LCC|Labrune syndrome											MESH:C000598644|OMIM:614561|UMLS:C3281200|Orphanet:542310																		owl:Class
MONDO:0014462	biolink:NamedThing	focal segmental glomerulosclerosis 8	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.	mondoexuq1wtf	ANLN focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in ANLN|FSGS8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis 8|glomerulosclerosis, focal segmental, 8											ICD10:N04.1|OMIM:616032|DOID:0111133|UMLS:C4014993																		owl:Class
MONDO:0017705	biolink:NamedThing	congenital pulmonary venous return anomaly	Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.	mondoexuq1wtf	TAPVR|anomalous pulmonary venous return|total anomalous pulmonary venous return|scimitar syndrome|pulmonary venous return anomaly|scimitar anomaly|congenital pulmonary venous connection anomaly|APVR|TAPVR1											ICD10:Q26.4|Orphanet:3090|ICD10:Q26.3|ICD10:Q26.2|GARD:0004599																		owl:Class
MONDO:0016515	biolink:NamedThing	Kallmann syndrome-heart disease syndrome	Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	mondoexuq1wtf												ICD10:Q24.8|Orphanet:2326|UMLS:CN201538																		owl:Class
MONDO:0002579	biolink:NamedThing	orbit embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.	mondoexuq1wtf	embryonal rhabdomyosarcoma of the orbit|embryonal rhabdomyosarcoma of orbit											UMLS:C1335127|NCIT:C6246|DOID:3258																		owl:Class
MONDO:0006483	biolink:NamedThing	urothelial dysplasia	A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.	mondoexuq1wtf	transitional cell dysplasia of the urinary tract|urothelial dysplasia					This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future.						UMLS:C1275859|NCIT:C39856|EFO:1000611																		owl:Class
MONDO:0019073	biolink:NamedThing	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		mondoexuq1wtf	glomerulonephritis with sparse hair and telangiectases|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome|telangiectatic membranoproliferative glomerulonephritis|HLTRS											MESH:C536825|GARD:0002492|OMIM:137940|DOID:0111360|UMLS:CN205563																		owl:Class
MONDO:0008451	biolink:NamedThing	neuronopathy, distal hereditary motor, type 1	An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.	mondoexuq1wtf	autosomal dominant distal juvenile spinal muscular atrophy type 1|HMN 1|dHMN1|HMN1|Charcot-Marie-Tooth disease, spinal, I|neuropathy, distal hereditary motor, type 1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|distal hereditary motor neuronopathy type I|Charcot-Marie-Tooth disease, spinal, 1|neuronopathy, distal hereditary motor, type I											MESH:C566675|NCIT:C132826|Orphanet:139518|OMIM:182960|ICD10:G12.2|UMLS:C1866784|DOID:0111200																		owl:Class
MONDO:0014473	biolink:NamedThing	microcephaly 13, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.	mondoexuq1wtf	microcephaly 13, primary, autosomal recessive|CENPE autosomal recessive primary microcephaly|MCPH13|autosomal recessive primary microcephaly caused by mutation in CENPE											UMLS:C4015080|OMIM:616051|DOID:0070283																		owl:Class
MONDO:0600010	biolink:NamedThing	moderate hypophosphatasia	Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.	mondoexuq1wtf								http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0018570	biolink:NamedThing	hypophosphatasia	Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).	mondoexuq1wtf	HPP|deficiency of alkaline phosphatase (disorder) [ambiguous]|Rathburn disease|hypophosphatasia mild|phosphoethanolaminuria|deficiency of alkaline phosphatase|childhood hypophosphatasia|phosphoethanol-aminuria|hypophospatasia, childhood											GARD:0006734|ICD10:E83.3|ICD9:277.6|Orphanet:436|SCTID:360792001|MESH:D007014|ICD10:E83.39|NCIT:C26798|DOID:14213|UMLS:C0020630|MedDRA:10049933																		owl:Class
MONDO:0007352	biolink:NamedThing	renal coloboma syndrome	Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.	mondoexuq1wtf	optic coloboma, vesicoureteral reflux and renal anomalies|PAPILLORENAL syndrome|renal-coloboma syndrome with macular abnormalities|PAPRS|coloboma of optic nerve with renal disease|renal-coloboma syndrome|Papillo-renal syndrome|CAKUT with or without ocular abnormalities|papillorenal syndrome|optic nerve coloboma with renal disease|papillo-renal syndrome, optic nerve coloboma with renal disease|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies											ICD10:Q60.4|NCIT:C123230|UMLS:C1852759|GARD:0004106|Orphanet:1475|MESH:C537168|SCTID:446449009|DOID:0090006|OMIM:120330|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome				owl:Class
MONDO:0012722	biolink:NamedThing	Dauwerse-Peters syndrome		mondoexuq1wtf	short stature, facial dysmorphism, severe brachydactyly and syndactyly|short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|Dauwerse-Peters syndrome											UMLS:C2673203|OMIM:611733|GARD:0010568|MESH:C567093														https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome				owl:Class
MONDO:0043287	biolink:NamedThing	superior vena cava syndrome	Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.	mondoexuq1wtf	superior vena cava obstruction|SVC syndrome|SVC obstruction|superior vena cava syndrome|SVCS|superior vena cava thrombosis											MESH:D013479|SCTID:63363004|NCIT:C3396|GARD:0009264																		owl:Class
MONDO:0003509	biolink:NamedThing	pineal region choriocarcinoma	A choriocarcinoma (disease) that involves the pineal body.	mondoexuq1wtf	choriocarcinoma of the pineal area|pineal choriocarcinoma|choriocarcinoma of pineal area|choriocarcinoma of the pineal region|choriocarcinoma of pineal region|pineal area choriocarcinoma											NCIT:C6759|UMLS:C1335414|DOID:5553																		owl:Class
MONDO:0008437	biolink:NamedThing	hereditary spastic paraplegia 3A	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.	mondoexuq1wtf	hereditary spastic paraplegia type 3A|spastic Paraplegia 3A|spastic paraplegia 3, autosomal dominant|spastic paraplegia 3|ATL1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 3|FSP1|SPG3A|familial spastic paraplegia, autosomal dominant, 1|Spg3|Strumpell disease|Strümpell disease|autosomal dominant spastic paraplegia 3|strumpell disease|autosomal dominant familial spastic paraplegia 1|hereditary spastic paraplegia caused by mutation in ATL1											DOID:0110791|ICD10:G11.4|MESH:C536864|NCIT:C142893|UMLS:C2931355|Orphanet:100984|GARD:0005041|OMIM:182600																		owl:Class
MONDO:0012666	biolink:NamedThing	asthma-related traits, susceptibility to, 6		mondoexuq1wtf	ASRT6|asthma-related traits, susceptibility to, 6|asthma-related traits, susceptibility to, type 6											OMIM:611403																		owl:Class
MONDO:0001050	biolink:NamedThing	malignant otitis externa	An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.	mondoexuq1wtf												ICD9:380.14|COHD:437881|ICD10:H60.2|DOID:10516|UMLS:C0155395|SCTID:94146005|ICD10:H60.20																		owl:Class
MONDO:0044212	biolink:NamedThing	chronic idiopathic urticaria	Chronic form of idiopathic urticaria.	mondoexuq1wtf	idiopathic urticaria, chronic|chronic idiopathic urticaria											SCTID:302162004|UMLS:C0578870																		owl:Class
MONDO:0016739	biolink:NamedThing	yolk sac tumor of central nervous system	A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)	mondoexuq1wtf	endodermal sinus tumor of central nervous system|yolk Sac tumor of central nervous system|yolk Sac tumor of CNS|intracranial yolk sac tumor|central nervous system yolk Sac tumor|yolk Sac tumor of the CNS|yolk Sac tumor of the central nervous system|CNS yolk Sac tumor|yolk sac tumor of CNS|endodermal sinus tumor of CNS|intracranial endodermal sinus tumor											UMLS:CN201987|NCIT:C7011|Orphanet:252006																		owl:Class
MONDO:0008174	biolink:NamedThing	pachyonychia congenita 2	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.	mondoexuq1wtf	pachyonychia congenita type 2|pachyonychia congenita caused by mutation in KRT17|pachyonychia congenita, Jackson-Lawler type, formerly|KRT17 pachyonychia congenita|pachyonychia congenita, Jackson-Lawler type|PC2|pachyonychia congenita 2											OMIM:167210																		owl:Class
MONDO:0004222	biolink:NamedThing	ovarian clear cell cystadenocarcinoma	A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.	mondoexuq1wtf	ovarian clear cell cystadenocarcinoma											NCIT:C7980|DOID:7438|UMLS:C0279667																		owl:Class
MONDO:0012709	biolink:NamedThing	microphthalmia, isolated, with coloboma 5	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.	mondoexuq1wtf	MCOPCB5|microphthalmia, isolated, with coloboma type 5|Shh microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 5|microphthalmia, isolated, with coloboma caused by mutation in SHH|microphthalmia, isolated, with coloboma caused by mutation in Shh|SHH microphthalmia, isolated, with coloboma											UMLS:C1968843|OMIM:611638|MESH:C566899																		owl:Class
MONDO:0014737	biolink:NamedThing	dehydrated hereditary stomatocytosis 2	Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.	mondoexuq1wtf	Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|KCNN4 dehydrated hereditary stomatocytosis|dehydrated hereditary stomatocytosis 2; DHS2|dehydrated hereditary stomatocytosis caused by mutation in KCNN4|DHS2|Desiccytosis Gardos|Dehydrated hereditary stomatocytosis type 2											UMLS:C4225242|DOID:0111577|OMIM:616689																		owl:Class
MONDO:0017146	biolink:NamedThing	sickle cell disease and related diseases		mondoexuq1wtf												UMLS:CN202572|ICD10:D57.0|ICD10:D57.8|ICD10:D57.1|ICD10:D57.3|ICD10:D57.2|Orphanet:275752																		owl:Class
MONDO:0044738	biolink:NamedThing	Gabriele de Vries syndrome		mondoexuq1wtf	GADEVS|Gabriele-De Vries syndrome|YY1 haploinsufficiency syndrome|Gabriele-de Vries syndrome											Orphanet:506358|UMLS:C4479652|OMIM:617557																		owl:Class
MONDO:0020852	biolink:NamedThing	spermatogenic failure 31		mondoexuq1wtf	spermatogenic failure 31|SPGF31											OMIM:618112																		owl:Class
MONDO:0014566	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2U	Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|Charcot-Marie-Tooth disease, axonal, type 2U|CMT2U|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|autosomal dominant Charcot-Marie-Tooth disease type 2U|MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth neuropathy type 2U											ICD10:G60.0|Orphanet:397735|UMLS:C4084821|DOID:0110173|SCTID:765046002|OMIM:616280																		owl:Class
MONDO:0005687	biolink:NamedThing	Caliciviridae infectious disease	Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.	mondoexuq1wtf	infection, Calicivirus|Calicivirus infection|infections, Caliciviridae|infections, Calicivirus|infection, Caliciviridae|Calicivirus infections|Caliciviridae infection											EFO:0007189|MESH:D017250																		owl:Class
MONDO:0007090	biolink:NamedThing	amastia, bilateral, with ureteral triplication and dysmorphism		mondoexuq1wtf	amastia, bilateral, with ureteral triplication and dysmorphism											UMLS:C1863015|OMIM:104350|MESH:C566295																		owl:Class
MONDO:0002590	biolink:NamedThing	combined thymoma		mondoexuq1wtf												DOID:3281																		owl:Class
MONDO:0011485	biolink:NamedThing	autosomal recessive congenital ichthyosis 5	An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.	mondoexuq1wtf	ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|lamellar ichthyosis, type 3|ichthyosis congenita 3|ichthyosis, congenital, autosomal recessive 5|NNCI|LI3, formerly|ichthyosis, lamellar, 3|ichthyosis congenita III|autosomal recessive congenital ichthyosis type 5|ichthyosis lamellar 3|ARCI5|ichthyosis, congenital, autosomal recessive type 5|ichthyosis, lamellar, 3, formerly|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|type 3 lamellar ichthyosis											MESH:C537265|ICD10:Q80.2|GARD:0009734|DOID:0060714|OMIM:604777														https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3				owl:Class
MONDO:0020161	biolink:NamedThing	congenital ectropion		mondoexuq1wtf												Orphanet:98570|SCTID:26590002|ICD10:Q10.1																		owl:Class
MONDO:0011768	biolink:NamedThing	myasthenia gravis with thymus hyperplasia		mondoexuq1wtf	Myas1|myasthenia gravis with thymus hyperplasia											MESH:C564628|OMIM:607085|UMLS:C1846838																		owl:Class
MONDO:0044338	biolink:NamedThing	autoimmune primary ovarian failure	An autoimmune form of primary ovarian failure.	mondoexuq1wtf	primary ovarian failure arising through autoimmunity											ICD9:279.49|SCTID:237790001|UMLS:C0342508|ICD9:256.39																		owl:Class
MONDO:0018689	biolink:NamedThing	plasma cell leukemia	An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.	mondoexuq1wtf	leukemia plasmacytic|PCL|plasma cell leukemia|plasmacytic leukemia|leukemia, plasma cell											EFO:0006475|NCIT:C3180|GARD:0009373|DOID:9513|ICD9:203.1|COHD:133154|ICD10:C90.10|MESH:D007952|SCTID:95210003|ICD9:203.10|ICD10:C90.1|ICDO:9733/3|UMLS:C0023484|Orphanet:454714														https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia				owl:Class
MONDO:0011509	biolink:NamedThing	low density lipoprotein cholesterol, mild elevation of		mondoexuq1wtf	low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of											OMIM:605028																		owl:Class
MONDO:0011364	biolink:NamedThing	autosomal recessive nonsyndromic deafness 16	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.	mondoexuq1wtf	deafness, autosomal recessive type 16|STRC autosomal recessive nonsyndromic deafness|autosomal recessive deafness 16|autosomal recessive nonsyndromic deafness caused by mutation in STRC|deafness, autosomal recessive 16|DFNB16|autosomal recessive nonsyndromic deafness type 16											OMIM:603720|MESH:C566339|ICD10:H90.3|UMLS:C1863561|DOID:0110471																		owl:Class
MONDO:0018687	biolink:NamedThing	progressive muscular atrophy	A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.	mondoexuq1wtf	PMA|progressive spinal muscular atrophy|pure progressive muscular atrophy											ICD10:G12.21|ICD9:335.21|ICD10:G12.2|SCTID:88923002|Orphanet:454706|EFO:0008864|NCIT:C85027|DOID:318|COHD:376679|UMLS:C0917981																		owl:Class
MONDO:0008587	biolink:NamedThing	tracheobronchopathia osteochondroplastica	Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.	mondoexuq1wtf	cartilaginous or bony projections into the tracheobronchial lumen|tracheopathia osteoplastica|tracheobronchopathia osteochondroplastica|tracheobronchopathia osteoplastica											OMIM:189961|GARD:0005235|MESH:C536977|UMLS:CN204359|Orphanet:3348|SCTID:54675009|ICD10:J98.0																		owl:Class
MONDO:0012558	biolink:NamedThing	epiphyseal dysplasia, Baumann type		mondoexuq1wtf	epiphyseal dysplasia, Baumann type											MESH:C563664|OMIM:610797|UMLS:C1835830																		owl:Class
MONDO:0003206	biolink:NamedThing	acquired hemangioma	A hemangioma that is not present at birth but develops later in life.	mondoexuq1wtf	acquired hemangioma											NCIT:C27018|UMLS:C0856897|DOID:492																		owl:Class
MONDO:0020165	biolink:NamedThing	syndromic epicanthus		mondoexuq1wtf												Orphanet:98574|UMLS:CN227805																		owl:Class
MONDO:0002293	biolink:NamedThing	cutaneous ganglioneuroma	A ganglioneuroma arising from the skin.	mondoexuq1wtf	skin ganglioneuroma|ganglioneuroma of the skin|ganglioneuroma of skin|cutaneous ganglioneuroma											UMLS:C0346063|NCIT:C4481|SCTID:254766004|DOID:2425																		owl:Class
MONDO:0014413	biolink:NamedThing	orofaciodigital syndrome type 14	Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	mondoexuq1wtf	microcephaly-cerebral malformation-orofaciodigital syndrome|orofaciodigital syndrome type 14|orofaciodigital syndrome caused by mutation in C2CD3|OFD14|orofaciodigital syndrome 14|oral-facial-digital syndrome type 14|C2CD3 orofaciodigital syndrome|orofaciodigital syndrome XIV											Orphanet:434179|OMIM:615948|ICD10:Q87.0|UMLS:C4014780|SCTID:763837007																		owl:Class
MONDO:0014182	biolink:NamedThing	autosomal recessive nonsyndromic deafness 88	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|ELMOD3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 88|autosomal recessive nonsyndromic deafness type 88|autosomal recessive deafness 88|DFNB88|deafness, autosomal recessive type 88											DOID:0110533|UMLS:C2829267|ICD10:H90.3|OMIM:615429																		owl:Class
MONDO:0022662	biolink:NamedThing	carpo tarsal osteolysis recessive		mondoexuq1wtf												GARD:0001129														https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive				owl:Class
MONDO:0016933	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 12		mondoexuq1wtf	partial trisomy/tetrasomy of the short arm of chromosome type 12|partial trisomy/tetrasomy of chromosome 12p|partial duplication/triplication of chromosome 12p|partial duplication/triplication of the short arm of chromosome 12											Orphanet:262658																		owl:Class
MONDO:0004651	biolink:NamedThing	smallpox	A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.	mondoexuq1wtf	smallpox virus infection|Variola|variola virus infection|Variola virus disease or disorder|Variola virus caused disease or disorder|ordinary smallpox|Variola virus infectious disease|variola virus VAR infection											UMLS:C0037354|GARD:0007444|MESH:D012899|SCTID:67924001|ICD10:B03|DOID:8736|ICD9:050.9|NCIT:C35027|ICD9:050														https://rarediseases.info.nih.gov/diseases/7444/smallpox				owl:Class
MONDO:0018302	biolink:NamedThing	acquired kinky hair syndrome	Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.	mondoexuq1wtf												Orphanet:37559|ICD10:L67.8|UMLS:CN204889																		owl:Class
MONDO:0018717	biolink:NamedThing	mixed cystic lymphatic malformation		mondoexuq1wtf	mixed cystic lymphangioma											Orphanet:458792|ICD10:D18.1																		owl:Class
MONDO:0008389	biolink:NamedThing	autosomal dominant Robinow syndrome	Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	mondoexuq1wtf	Robinow syndrome, autosomal dominant type|autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant											SCTID:76520005|UMLS:CN203673|ICD9:759.89|Orphanet:3107|ICD10:Q87.1																		owl:Class
MONDO:0044974	biolink:NamedThing	disease of supramolecular complex		mondoexuq1wtf																														owl:Class
MONDO:0000961	biolink:NamedThing	endobronchial lipoma	A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.	mondoexuq1wtf	endobronchial lipoma					Editor note: TODO check with NCIT why this is classified as lung						DOID:10183|NCIT:C5063|UMLS:C0852937																		owl:Class
MONDO:0008421	biolink:NamedThing	flat face-microstomia-ear anomaly syndrome	Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.	mondoexuq1wtf	blepharophimosis-telecanthus-microstomia syndrome|Simosa-Penchaszadeh-Bustos syndrome|SIMOSA craniofacial syndrome|Simosa cranio facial syndrome											OMIM:182150|UMLS:C1866962|ICD10:Q87.0|GARD:0004873|MESH:C537339|Orphanet:1968																		owl:Class
MONDO:0008917	biolink:NamedThing	heart defects-limb shortening syndrome	Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.	mondoexuq1wtf	heart defects and limb shortening|cardioskeletal syndrome kuwaiti type|cardioskeletal syndrome, KUWAITI type|heart defect and limb shortening syndrome											GARD:0002613|MESH:C535850|Orphanet:1354|OMIM:212135|UMLS:C1859327|ICD10:Q87.2|SCTID:721009008														https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type				owl:Class
MONDO:0022171	biolink:NamedThing	chromhidrosis	A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.	mondoexuq1wtf	secretion of colored sweat|chromhidrosis											ICD10:L75.1|ICD9:705.89|SCTID:26147006|GARD:0010749														https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis				owl:Class
MONDO:0024467	biolink:NamedThing	apocrine sweat gland disease	A disease that involves the apocrine sweat gland.	mondoexuq1wtf	disorder of apocrine sweat gland|apocrine sweat gland disease or disorder|disease or disorder of apocrine sweat gland|disease of apocrine sweat gland|apocrine sweat gland disease											ICD10:L75																		owl:Class
MONDO:0024744	biolink:NamedThing	childhood choroid plexus neoplasm	A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.	mondoexuq1wtf	choroid plexus neoplasm of childhood|pediatric choroid plexus neoplasm|choroid plexus neoplasm|childhood choroid plexus neoplasm											NCIT:C42080																		owl:Class
MONDO:0017220	biolink:NamedThing	laryngotracheoesophageal cleft type 0	Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.	mondoexuq1wtf	laryngo-tracheo-esophageal cleft type 0|LTEC0											ICD10:Q32.1|UMLS:CN202702|Orphanet:280205																		owl:Class
MONDO:0007001	biolink:NamedThing	tricuspid valve prolapse	Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.	mondoexuq1wtf	tricuspid valve prolapse (disease)|tricuspid valve prolapse		tricuspid valve prolapse (disease)									ICD10:Q22.8|Orphanet:95458|MedDRA:10066862|UMLS:C0040962|SCTID:253383003|EFO:1001218|DOID:5644|MESH:D014263|HP:0001704																		owl:Class
MONDO:0006669	biolink:NamedThing	bacterial endocarditis	Endocarditis that is caused by an infection with a bacterial agent.	mondoexuq1wtf	Bacteria endocarditis (disease)|bacterial endocarditis|Bacteria caused endocarditis (disease)|bacterial endocarditis (disease)		bacterial endocarditis (disease)									EFO:1000830|UMLS:C0014121|MedDRA:10004019|MESH:D004697|SCTID:301183007|HP:0006689|NCIT:C128359																		owl:Class
MONDO:0014855	biolink:NamedThing	intellectual disability, autosomal dominant 42	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.	mondoexuq1wtf	GNB1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 42|mental retardation, autosomal dominant 42|MRD42|autosomal dominant non-syndromic intellectual disability 42|autosomal dominant mental retardation 42|Gnb1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|intellectual disability, autosomal dominant 42|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|intellectual disability, autosomal dominant type 42|autosomal dominant intellectual disability 42					Editor note: check status as syndromic						OMIM:616973|DOID:0070072|UMLS:C4310774																		owl:Class
MONDO:0006601	biolink:NamedThing	pityriasis rosea	A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.	mondoexuq1wtf	Pityriasis rosea|Pityriasis circinata											SCTID:77252004|ICD9:696.3|MESH:D017515|EFO:1000756|Wikipedia:Pityriasis_rosea|DOID:8892|UMLS:C0032026|COHD:141371|ICD10:L42|NCIT:C26855																		owl:Class
MONDO:0014803	biolink:NamedThing	spasticity-ataxia-gait anomalies syndrome		mondoexuq1wtf	spasticity, childhood-onset, with hyperglycinemia|childhood-onset spasticity with variant non-ketotic hyperglycinemia|childhood-onset spasticity with hyperglycinemia|SPAHGC											OMIM:616859|Orphanet:401866|ICD10:E88.8|UMLS:C4225178																		owl:Class
MONDO:0002772	biolink:NamedThing	intraventricular meningioma	A meningioma that affects the ventricles of the brain.	mondoexuq1wtf	brain ventricle meningioma (disease)|meningioma (disease) of brain ventricle											NCIT:C5273|DOID:3772|UMLS:C1334271																		owl:Class
MONDO:0013871	biolink:NamedThing	Seckel syndrome 6	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.	mondoexuq1wtf	CEP63 Seckel syndrome|SCKL6|Seckel syndrome type 6|Seckel syndrome caused by mutation in CEP63|Seckel syndrome 6											OMIM:614728|UMLS:C3553582|DOID:0070006																		owl:Class
MONDO:0021045	biolink:NamedThing	fibroepithelial neoplasm	A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.	mondoexuq1wtf	fibroepithelial tumor|fibroepithelial neoplasm											NCIT:C3743|MESH:D018225|UMLS:C0206649|EFO:0007271																		owl:Class
MONDO:0032724	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity, type 3		mondoexuq1wtf	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3|SEMDJL3											OMIM:618395|DOID:0112200																		owl:Class
MONDO:0019675	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity	A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.	mondoexuq1wtf	SEMD-JL|spondyloepimetaphyseal dysplasia with joint laxity type 1|spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia joint laxity|SEMDJL|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type|SEMDJL1											ICD9:756.9|ICD9:719.80|GARD:0004982|MESH:C562968|DC:0000688|DOID:0112197|Orphanet:93359|OMIMPS:271640|SCTID:254100000|ICD10:Q77.7																		owl:Class
MONDO:0004738	biolink:NamedThing	histidine metabolism disease	A disease that has its basis in the disruption of histidine metabolic process.	mondoexuq1wtf	histidine metabolic process disease|disorder of histidine metabolic process|disorder of histidine metabolism|disturbance of histidine metabolism											UMLS:C0268512|SCTID:44176004																		owl:Class
MONDO:0032680	biolink:NamedThing	global developmental delay with or without impaired intellectual development		mondoexuq1wtf	GDDI|GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT											OMIM:618330																		owl:Class
MONDO:0007586	biolink:NamedThing	exostoses, multiple, type 2	This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.	mondoexuq1wtf	exostoses (Multiple) 2 Gene|EXT2 Gene|exostoses, multiple caused by mutation in EXT2|EXT2 exostoses, multiple|Ext2|exostoses, multiple, type II											UMLS:C1851413|GARD:0002205|OMIM:133701|NCIT:C18252														https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2				owl:Class
MONDO:0006800	biolink:NamedThing	ideomotor apraxia	A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)	mondoexuq1wtf	classic apraxia|limb-kinetic apraxia|transcortical apraxia (finding)|limb-kinetic apraxia (finding)|classic apraxia (finding) [ambiguous]|ideomotor dyspraxia|transcortical apraxia											DOID:4627|ICD9:315.8|MESH:D020240|SCTID:229706001|MedDRA:10021216|EFO:1000980																		owl:Class
MONDO:0000665	biolink:NamedThing	apraxia	Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.	mondoexuq1wtf	dyspraxia|Apraxias											MESH:D001072|DOID:0060135|ICD10:R48.2|GARD:0005838														https://rarediseases.info.nih.gov/diseases/5838/apraxia				owl:Class
MONDO:0021546	biolink:NamedThing	ependymal tumor of spinal cord	An ependymal tumor that arises from the spinal cord.	mondoexuq1wtf	ependymal tumor of spinal cord|spinal cord ependymal tumor											NCIT:C131526|UMLS:C4318747																		owl:Class
MONDO:0009285	biolink:NamedThing	gamma-glutamyl transpeptidase deficiency	Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.	mondoexuq1wtf	glutathionuria|GTG deficiency|rare inborn error of glutathione hydrolase activity|gamma-glutamyltranspeptidase deficiency|inborn error of glutathione hydrolase activity|inborn glutathione hydrolase activity disorder|GGT1 deficiency|gamma-glutamyltransferase deficiency|GGT deficiency											OMIM:231950|ICD9:270.8|GARD:0010099|UMLS:C0268524|MESH:C536836|Orphanet:33573|ICD10:E72.8|DOID:0111257|SCTID:78586005																		owl:Class
MONDO:0008417	biolink:NamedThing	sclerocornea, autosomal dominant		mondoexuq1wtf	sclerocornea, autosomal dominant											OMIM:181700|MESH:C566692																		owl:Class
MONDO:0017803	biolink:NamedThing	primary progressive apraxia of speech		mondoexuq1wtf	PPAOS											UMLS:CN203766|Orphanet:314566																		owl:Class
MONDO:0041448	biolink:NamedThing	metastasis from malignant tumor of colon		mondoexuq1wtf	metastasis from malignant tumor of colon											SCTID:314998002|UMLS:C1282500																		owl:Class
MONDO:0016995	biolink:NamedThing	familial multiple meningioma	Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.	mondoexuq1wtf												ICD10:D32.9|UMLS:CN202309|Orphanet:263662																		owl:Class
MONDO:0010821	biolink:NamedThing	familial developmental dysphasia	Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.	mondoexuq1wtf	Billard-Toutain-Maheut syndrome|developmental language disorder|FOXP2-associated dysphasia|developmental dysphasia familial|dysphasia, familial developmental|specific language impairment											ICD10:F80.1|UMLS:C1838630|OMIM:600117|GARD:0001823|MESH:C563997|Orphanet:1799|SCTID:721220004														https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial				owl:Class
MONDO:0006783	biolink:NamedThing	hemopneumothorax	Collection of air and blood in the pleural cavity.	mondoexuq1wtf												DOID:2718|ICD10:J94.2|MedDRA:10060632|EFO:1000963|ICD9:511.89|SCTID:16632002|UMLS:C0019077|MESH:D006468																		owl:Class
MONDO:0014804	biolink:NamedThing	sideroblastic anemia 3		mondoexuq1wtf	SIDBA3|GLRX5-related sideroblastic anemia|adult-onset autosomal recessive sideroblastic anemia|anemia, sideroblastic, 3, pyridoxine-refractory											Orphanet:255132|DOID:0080343|ICD10:D64.0|SCTID:720465002|OMIM:616860																		owl:Class
MONDO:0004601	biolink:NamedThing	ulcer of lower limbs	Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.	mondoexuq1wtf	Ulcer of ankle|Ulcer of calf|Ulcer of thigh|Ulcer of heel and midfoot											EFO:0007068|ICD9:707.13|SCTID:419193008|DOID:8529																		owl:Class
MONDO:0001871	biolink:NamedThing	acute diffuse glomerulonephritis	An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.	mondoexuq1wtf	acute diffuse glomerulonephritis|acute diffuse nephritis|diffuse glomerulonephritis, acute											DOID:14066|NCIT:C35587|UMLS:C0341689|SCTID:197585004																		owl:Class
MONDO:0002653	biolink:NamedThing	Paget disease of the penis	A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003	mondoexuq1wtf	penis mammary Paget's disease|penile adenocarcinoma|penis Paget disease|Paget disease of the penis|Paget's disease of the penis|penis Paget's disease|Paget's disease of penis											DOID:3448|UMLS:C0221286|NCIT:C27817|SCTID:398768004																		owl:Class
MONDO:0002416	biolink:NamedThing	ethmoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	mondoexuq1wtf	squamous cell carcinoma of ethmoidal sinus|epidermoid carcinoma of the ethmoidal sinus|ethmoid sinus epidermoid carcinoma|ethmoidal sinus squamous cell carcinoma|ethmoid sinus squamous cell carcinoma|squamous cell carcinoma of ethmoid sinus|epidermoid carcinoma of the ethmoid sinus|ethmoidal sinus epidermoid carcinoma|squamous cell carcinoma of the ethmoidal sinus|epidermoid carcinoma of ethmoidal sinus|epidermoid carcinoma of ethmoid sinus|squamous cell carcinoma of the ethmoid sinus											NCIT:C6065|DOID:2763|UMLS:C1333477|SCTID:707359008																		owl:Class
MONDO:0008013	biolink:NamedThing	chromosome 9p deletion syndrome	Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	mondoexuq1wtf	9p- syndrome|monosomy type 9p|9p syndrome|monosomy 9p syndrome|partial monosomy 9p|monosomy 9p|deletion 9p|monosomy 9P syndrome|chromosome 9p deletion|9p monosomy|9p deletion|Alfi syndrome|9p deletion syndrome|chromosome 9p deletion syndrome											SCTID:62599000|OMIM:158170|ICD10:Q93.5|MESH:C538024|DOID:0060732|GARD:0003773|ICD9:758.39|Orphanet:261112																		owl:Class
MONDO:0000515	biolink:NamedThing	bone chondrosarcoma	A chondrosarcoma (disease) that involves the bone tissue.	mondoexuq1wtf	bone tissue chondrosarcoma (disease)|chondrosarcoma (disease) of bone tissue											DOID:0050897																		owl:Class
MONDO:0001169	biolink:NamedThing	spastic monoplegia	A spastic cerebral palsy that affects only one limb.	mondoexuq1wtf	spastic monoplegic cerebral palsy|infantile monoplegic cerebral palsy|monoplegic infantile cerebral palsy											UMLS:C0154698|DOID:10968|ICD9:343.3																		owl:Class
MONDO:0014164	biolink:NamedThing	Meckel syndrome, type 11	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	mondoexuq1wtf	TMEM231 Meckel syndrome|MKS11|Meckel syndrome, type 11|Meckel syndrome caused by mutation in TMEM231											OMIM:615397|UMLS:C3809352																		owl:Class
MONDO:0000372	biolink:NamedThing	pharynx carcinoma in situ	Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.	mondoexuq1wtf	stage 0 pharyngeal throat cancer|pharynx carcinoma in situ|carcinoma in situ of the pharynx|carcinoma in situ of pharynx|pharyngeal carcinoma in situ|stage 0 pharyngeal carcinoma|stage 0 carcinoma of the pharynx|stage 0 pharyngeal cancer|pharynx in situ carcinoma|pharyngeal cancer stage 0|stage 0 pharynx carcinoma|stage 0 carcinoma of pharynx											UMLS:C0347098|SCTID:92681005|DOID:0050611|NCIT:C4942																		owl:Class
MONDO:0021208	biolink:NamedThing	endocrine alopecia		mondoexuq1wtf												ICD9:704.09|SCTID:54539003|UMLS:C0002176																		owl:Class
MONDO:0023203	biolink:NamedThing	Fuchs atrophia gyrata chorioideae et retinae		mondoexuq1wtf																														owl:Class
MONDO:0009657	biolink:NamedThing	Sanfilippo syndrome type C	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	mondoexuq1wtf	MPS III C|MPSIIIC|mucopolysaccharidosis type IIIC|mucopolysaccharidosis, type IIIC|mucopolysaccharidosis, type 3C|MPS 3C|Sanfilippo C|Mucopoly-saccharidosis type 3C|HGSNAT deficiency|MPS3C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|mucopolysaccharidosis type 3C|MPS IIIC|Sanfilippo syndrome C|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency											NCIT:C84899|GARD:0007073|UMLS:C0086649|SCTID:75238000|OMIM:252930|DOID:0111393|Orphanet:79271|ICD10:E76.2																		owl:Class
MONDO:0018937	biolink:NamedThing	mucopolysaccharidosis type 3	Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.	mondoexuq1wtf	mucopolysaccharidosis type IIIA|MPS IIID - Sanfilippo syndrome D|Sanfilippo's syndrome|mucopolysaccharidosis III|Sanfilippo syndrome B|MPS IIIA - Sanfilippo syndrome A|MPS3|NAGLU deficiency|heparan sulfate sulfatase deficiency|MPS IIIB - Sanfilippo syndrome B|Sanfilippo syndrome A|mucopolysaccharidosis type IIIB|N-acetyl-alpha-D-glucosaminidase deficiency|MPS IIIC - Sanfilippo syndrome C|Mucopoly-saccharidosis type 3|mucopolysaccharidosis, MPS-III-B|Sanfilippo syndrome|mucopolysaccharidosis, MPS-III|MPSIII|mucopolysaccharidosis type III|N-sulphoglucosamine sulphohydrolase deficiency|Sanfilippo disease											GARD:0003807|UMLS:C0026706|UMLS:CN205330|Orphanet:581|ICD10:E76.22|MedDRA:10056890|ICD10:E76.2|DOID:12801|SCTID:88393000|NCIT:C61262																		owl:Class
MONDO:0011983	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 4		mondoexuq1wtf	autoimmune thyroid disease, susceptibility to, type 4|AITD4|autoimmune thyroid disease, susceptibility to, 4											UMLS:C1842443|OMIM:608176																		owl:Class
MONDO:0003473	biolink:NamedThing	spinal cord ependymoma	An ependymoma that arises from the spinal cord.	mondoexuq1wtf	ependymoma of the spinal cord|ependymoma of spinal cord|spinal cord ependymoma|ependymal neoplasm of the spinal cord										MONDO:0021544	UMLS:C0238432|SCTID:254949006|NCIT:C3875|DOID:5503																		owl:Class
MONDO:0025139	biolink:NamedThing	white muscle disease	A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)	mondoexuq1wtf	muscle diseases, White|White muscle diseases|muscle disease, White|diseases, White muscle|disease, White muscle											MESH:D014912|UMLS:C0043153																		owl:Class
MONDO:0024965	biolink:NamedThing	muscular dystrophy, non-human animal		mondoexuq1wtf	dystrophies, animal muscular|animal muscular dystrophy|animal muscular dystrophies|dystrophy, animal muscular|muscular dystrophies, animal											MESH:D009137|UMLS:C0026851																		owl:Class
MONDO:0023558	biolink:NamedThing	Kocher-debre-Semelaigne syndrome		mondoexuq1wtf	association of muscular pseudohypertrophy and hypothyroidism in children|Kocher debre Semelaigne disease											MESH:C537211|GARD:0008270														https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome				owl:Class
MONDO:0004663	biolink:NamedThing	colon carcinoma in situ	A in situ carcinoma that involves the colon.	mondoexuq1wtf	carcinoma in situ of the colon|colon carcinoma in situ|stage 0 carcinoma of the colon|stage 0 colon carcinoma|stage 0 carcinoma of colon|stage 0 colonic carcinoma|stage 0 colon cancer|colonic carcinoma in situ|stage 0 colon cancer aJCC v6|stage 0 colon cancer aJCC v6 and v7|stage 0 colon cancer aJCC v7|colon in situ carcinoma|colon cancer stage 0|carcinoma in situ of colon											DOID:8826|UMLS:C0154061|COHD:75512|NCIT:C3638|SCTID:92568009|ICD10:D01.0|ICD9:230.3																		owl:Class
MONDO:0008040	biolink:NamedThing	transient myeloproliferative syndrome	A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.	mondoexuq1wtf	transient myeloproliferative disease|MST|TAM|myeloproliferative syndrome, transient|transient abnormal myelopoiesis|leukemia, transient|Mst|transient leukemia|transient myeloproliferative syndrome|TMD|Transient abnormal myelopoiesis associated with Down syndrome|transient myeloproliferative disorder|transient myeloproliferative syndrome (disease)|transient leurkemia of Down syndrome		transient myeloproliferative syndrome (disease)									DOID:0060888|Orphanet:420611|ICD10:D47.7|GARD:0012765|MESH:C563551|HP:0005534|ICDO:9898/1|SCTID:721307000|ONCOTREE:TAM|UMLS:C1834582|OMIM:159595|NCIT:C82339																		owl:Class
MONDO:0016963	biolink:NamedThing	partial duplication of the long arm of chromosome 13	Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13.	mondoexuq1wtf	13q trisomy|13q duplication|partial trisomy 13q|Duplication 13q|partial duplication of the long arm of chromosome type 13|partial trisomy of chromosome 13q|partial trisomy of the long arm of chromosome 13|chromosome 13q duplication|trisomy 13q|partial duplication of chromosome 13q											GARD:0001929|Orphanet:262932																		owl:Class
MONDO:0012899	biolink:NamedThing	alopecia, androgenetic, 3		mondoexuq1wtf	AGA3|alopecia, androgenetic, 3											MESH:C567317|OMIM:612421|UMLS:C2676272																		owl:Class
MONDO:0001987	biolink:NamedThing	senile degeneration of brain		mondoexuq1wtf	Senile brain degen.											DOID:14524|SCTID:45864009|UMLS:C0154669|COHD:373179|ICD9:331.2																		owl:Class
MONDO:0100029	biolink:NamedThing	antibody mediated epilepsy	An immune epilepsy where the underlying cause is antibody mediated.	mondoexuq1wtf					2018-06-23 00:52:42+00:00																									owl:Class
MONDO:0018763	biolink:NamedThing	Tubulinopathy-associated dysgyria		mondoexuq1wtf	brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome											UMLS:CN242152|Orphanet:467166																		owl:Class
MONDO:0022849	biolink:NamedThing	congenital stenosis of cervical medullary canal		mondoexuq1wtf												GARD:0001504														https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal				owl:Class
MONDO:0013420	biolink:NamedThing	age related macular degeneration 12	Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.	mondoexuq1wtf	macular degeneration, age-related, 12|age-related macular degeneration caused by mutation in CX3CR1|CX3CR1 age-related macular degeneration|macular Degeneration, age-related, type 12|ARMD12|age related macular degeneration type 12											OMIM:613784|UMLS:C3151079|DOID:0110024																		owl:Class
MONDO:0019892	biolink:NamedThing	distal monosomy 7p		mondoexuq1wtf	telomeric deletion 7p|distal monosomy type 7p|monosomy 7pter|distal deletion 7p											Orphanet:96126|ICD10:Q93.5																		owl:Class
MONDO:0009394	biolink:NamedThing	juvenile Paget disease	Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.	mondoexuq1wtf	juvenile Paget disease|Paget disease of bone 5, juvenile-onset|hyperostosid corticalis deformans juvenilis|JPG|juvenile Paget's disease|osteoectasia, familial|juvenile Pagets disease|hyperostosis corticalis deformans juvenilis|PDB5|hyperphosphatasia, familial idiopathic|hyperphosphatasemia, chronic congenital idiopathic|hereditary hyperphosphatasia|Paget disease juvenile type|JPD|familial osteoectasia|familial hyperphosphatasia											GARD:0002831|ICD10:M88.8|OMIM:239000|MESH:C537701|SCTID:9723006|Orphanet:2801|NCIT:C131861|ICD10:M88.0|ICD10:M88.9														https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease				owl:Class
MONDO:0004208	biolink:NamedThing	superior vena cava leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	anterior vena cava leiomyosarcoma|leiomyosarcoma of Superior vena cava|leiomyosarcoma of anterior vena cava|leiomyosarcoma of the Superior vena cava											NCIT:C6745|DOID:7390|UMLS:C1336531																		owl:Class
MONDO:0018045	biolink:NamedThing	Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	mondoexuq1wtf	Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|Hoyeraal Hreidarsson syndrome|progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome											MESH:C536068|ICD10:D61.0|GARD:0000346|UMLS:C1846142|SCTID:707276009|Orphanet:3322																		owl:Class
MONDO:0022007	biolink:NamedThing	water intoxication	A condition resulting from the excessive retention of water with sodium depletion.	mondoexuq1wtf	Water intoxication|Water Intoxication|Water intoxication syndrome|WATER INTOX|water intoxication syndrome											UMLS:C0043049|MESH:D014869|SCTID:71785001																		owl:Class
MONDO:0015494	biolink:NamedThing	isolated dystonia	A dystonia (disease) that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic dystonic disorder|Pure dystonia|isolated dystonic disorder|nonsyndromic dystonia (disease)											Orphanet:156159|ICD10:G24.1																		owl:Class
MONDO:0011438	biolink:NamedThing	acne	An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.	mondoexuq1wtf	acne|acne, ADULT|acne (disease)|acne varioliformis|frontalis acne|acne vulgaris		acne (disease)									NCIT:C27195|ICD10:L70.2|MTH:217|ICD10:L70.9|COHD:138826|HP:0001061|OMIM:604324|ICD9:706.0|EFO:0003894|DOID:6543|ICD10:L70																		owl:Class
MONDO:0060666	biolink:NamedThing	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		mondoexuq1wtf	HADDTS|hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome											UMLS:CN895589|OMIM:617915																		owl:Class
MONDO:0011125	biolink:NamedThing	trichothiodystrophy 1, photosensitive		mondoexuq1wtf	Tay syndrome|PIBIDS syndrome|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation|TTD1|trichothiodystrophy 1, photosensitive											Orphanet:670|OMIM:601675																		owl:Class
MONDO:0008368	biolink:NamedThing	autosomal dominant distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.	mondoexuq1wtf	RTA, distal type, autosomal dominant|RTA, classic type|renal tubular acidosis, distal, autosomal dominant|AD dRTA|autosomal dominant distal renal tubular acidosis (disease)|renal tubular acidosis 1|autosomal dominant SLC4A1-associated distal renal tubular acidosis|RTA, gradient type|distal renal tubular acidosis (disease), autosomal dominant											Orphanet:93608|GARD:0004668|ICD10:N25.8|OMIM:179800																		owl:Class
MONDO:0009546	biolink:NamedThing	macrosomia adiposa congenita		mondoexuq1wtf	macrosomia adiposa congenita											MESH:C565425|UMLS:C1855468|OMIM:248100																		owl:Class
MONDO:0013424	biolink:NamedThing	3p- syndrome	Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	mondoexuq1wtf	distal 3p deletion|Del(3p) syndrome|monosomy 3p|monosomy 3pter|deletion 3p|telomeric monosomy 3p|distal monosomy 3p|3p monosomy|deletion 3p25|chromosome 3, monosomy 3p25|3p deletion|chromosome 3p- syndrome|chromosome 3p deletion|del(3p25)|distal monosomy type 3p|partial monosomy 3p|chromosome 3pter-p25 deletion syndrome|3p- syndrome											SCTID:763528002|OMIM:613792|GARD:0000037|DOID:0060417|GARD:0003750|MESH:C536804|ICD10:Q93.5|Orphanet:1620|NCIT:C41377																		owl:Class
MONDO:0008289	biolink:NamedThing	brain small vessel disease 1 with or without ocular anomalies	Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.	mondoexuq1wtf	porencephaly type 1|BSVD1|COL4A1-related familial vascular leukoencephalopathy|porencephaly, type 1, autosomal dominant|hemiplegia, infantile, with porencephaly porencephaly, type 1|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|BSVD|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|ADT1P|T1P|porencephaly 1|brain small vessel disease with hemorrhage|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|POREN1|hemiplegia, infantile, with porencephaly|infantile hemiparesis|brain small vessel disease with Axenfeld-Riegar anomaly|COL4A1 porencephaly|porencephaly caused by mutation in COL4A1|COL4A1-related brain small vessel disease with hemorrhage|brain small vessel disease with or without ocular anomalies											ICD10:I67.3|MESH:C531642|OMIM:175780|DOID:0090125|UMLS:CN032791|OMIM:607595|MESH:C564372|Orphanet:36383																		owl:Class
MONDO:0020649	biolink:NamedThing	warty carcinoma of the penis	A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.	mondoexuq1wtf	condylomatous penile squamous cell carcinoma|warty squamous cell carcinoma of penis|condylomatous squamous cell carcinoma of penis|warty carcinoma of the penis|warty penile squamous cell carcinoma|warty squamous cell carcinoma of the penis|squamous cell carcinoma of penis, condylomatous type|condylomatous carcinoma of penis|squamous cell carcinoma of penis, warty type|condylomatous squamous cell carcinoma of the penis|condylomatous carcinoma of the penis|squamous cell carcinoma of the penis, condylomatous type|warty carcinoma of penis|squamous cell carcinoma of the penis, warty type											NCIT:C6981|ONCOTREE:WPSCC																		owl:Class
MONDO:0002200	biolink:NamedThing	eccrine mixed tumor of skin	A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.	mondoexuq1wtf	mixed eccrine neoplasm of the skin|benign mixed tumor of the skin|benign mixed tumor of skin|benign mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin (chondroid syringoma)|chondroid syringoma|eccrine sweat gland mixed neoplasm|mixed tumor of the skin (chondroid syringoma)|eccrine mixed tumor|eccrine mixed tumor (morphologic abnormality)										MONDO:0006308	SCTID:254720009|EFO:1000385|NCIT:C4474|UMLS:C0346026|DOID:2079																		owl:Class
MONDO:0017759	biolink:NamedThing	disorder of catecholamine synthesis		mondoexuq1wtf												UMLS:C0342685|Orphanet:309830|ICD9:270.8|SCTID:237921002																		owl:Class
MONDO:0004560	biolink:NamedThing	follicular infundibulum tumor		mondoexuq1wtf	follicular infundibulum neoplasm|tumor of follicular infundibulum|basal cell hamartoma with follicular differentiation|tumor of the follicular infundibulum|neoplasm of the follicular infundibulum											SCTID:254694002|DOID:8426|UMLS:C0346006|NCIT:C4469|ICD9:239.2																		owl:Class
MONDO:0001294	biolink:NamedThing	Horner syndrome	Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.	mondoexuq1wtf	Bernard-Horner syndrome|Bernard Horner syndrome|Horner's syndrome|oculosympathetic palsy|Horner syndrome|cervical sympathetic paralysis											GARD:0006670|NCIT:C28155|SCTID:192915005|ICD10:G90.2|ICD9:337.09|MESH:D006732|DOID:11486														https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome				owl:Class
MONDO:0007088	biolink:NamedThing	Alzheimer disease type 1		mondoexuq1wtf	AD|Alzheimer disease|presenile and senile dementia|Alzheimer disease, protection against|Alzheimer disease 1|Alzheimer disease, early-onset, with cerebral amyloid angiopathy|AD1|Alzheimer disease, familial, 1|early-onset familial form of Alzheimer disease											UMLS:C2931257|OMIM:104300|GARD:0009465|DOID:0080348														https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1				owl:Class
MONDO:0024686	biolink:NamedThing	tenosynovial giant cell tumor, diffuse type	A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.	mondoexuq1wtf	diffuse giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor, diffuse type|tenosynovial giant cell tumor diffuse type|diffuse giant cell neoplasm of the Tenosynovium|diffuse giant cell tumor of tendon sheath|pigmented villonodular synovitis|diffuse giant cell neoplasm of Tenosynovium|diffuse giant cell tumor of Tenosynovium|diffuse tenosynovial giant cell tumor|diffuse tenosynovial giant cell neoplasm|diffuse giant cell tumor of the Tenosynovium											NCIT:C3401|ONCOTREE:TGCT|ICDO:9251/0																		owl:Class
MONDO:0100415	biolink:NamedThing	acute myeloid leukemia, FLT3 internal tandem duplication	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)	mondoexuq1wtf	AML, FLT3-ITD Activating Mutation|AML, FLT3 internal tandem duplication|AML, FLT3-ITD Mutation|AML, FLT3-ITD|AML, FLT3 ITD|AML, Activating FLT3-ITD Gene Mutation|AML, FLT3/ITD Mutation|AML, Activating FLT3-ITD Mutation											NCIT:C126748																		owl:Class
MONDO:0017227	biolink:NamedThing	autoimmune pancreatitis type 1	Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.	mondoexuq1wtf	lymphoplasmacytic sclerosing pancreatitis|autoimmune pancreatitis type 1|IgG4-related pancreatitis|AIP type 1											Orphanet:280302|EFO:1000780|SCTID:722872000|UMLS:C4302243|PMID:25985088|ICD10:K86.1|UMLS:CN202712																		owl:Class
MONDO:0004317	biolink:NamedThing	multiple spinal canal and spinal cord meningioma	Multiple meningiomas that arises from the spinal meninges.	mondoexuq1wtf	multiple intraspinal Meningiomas|multiple meningiomas of the spinal canal and spinal cord|multiple Meningiomas of spinal canal and spinal cord|multiple spinal canal and spinal cord Meningiomas											UMLS:C1334825|DOID:7646|NCIT:C5275																		owl:Class
MONDO:0001802	biolink:NamedThing	acute tympanitis		mondoexuq1wtf	acute myringitis											UMLS:C0155460|ICD10:H73.009|DOID:13790|ICD10:H73.00|ICD10:H73.0|COHD:381040|ICD9:384.00|SCTID:297009																		owl:Class
MONDO:0012786	biolink:NamedThing	juvenile cataract-microcornea-renal glucosuria syndrome	Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	mondoexuq1wtf	CTRCT47|cataract 47|cataract, juvenile, with microcornea|cataract, juvenile, with microcornea and glucosuria, formerly|cataract, juvenile, with microcornea and glucosuria|CJMG											MESH:C567434|UMLS:C2677587|Orphanet:247794|DOID:0070353|OMIM:612018|SCTID:722457005																		owl:Class
MONDO:0004439	biolink:NamedThing	periocular meningioma	A meningioma that affects the periocular region.	mondoexuq1wtf												NCIT:C6777|UMLS:C1335383|DOID:8030																		owl:Class
MONDO:0005252	biolink:NamedThing	heart failure	Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	mondoexuq1wtf	cardiac insufficiency|insufficiency, Cardiac|heart failure|cardiac failure|failure, heart											MESH:D006333|ICD9:428.9|COHD:316139|UMLS:CN236639|EFO:0003144|SCTID:84114007|NCIT:C50577|ICD9:428																		owl:Class
MONDO:0019734	biolink:NamedThing	juvenile polymyositis	An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.	mondoexuq1wtf	juvenile PM|JPM											NCIT:C114358|SCTID:738526005|UMLS:C3826988|GARD:0012742|Orphanet:93568|ICD10:M33.2|EFO:1001988														https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis				owl:Class
MONDO:0021033	biolink:NamedThing	herpes zoster dermatitis	Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.	mondoexuq1wtf	herpes zoster dermatitis											NCIT:C35619																		owl:Class
MONDO:0012644	biolink:NamedThing	asphyxiating thoracic dystrophy 2	Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.	mondoexuq1wtf	IFT80 Jeune syndrome|Jeune syndrome caused by mutation in IFT80|asphyxiating thoracic dystrophy 2|asphyxiating thoracic dystrophy type 2|ATD2|short-rib thoracic dysplasia 2 with or without polydactyly|SRTD2											DOID:0110086|UMLS:C1970005|ICD10:Q77.2|OMIM:611263|MESH:C566982																		owl:Class
MONDO:0004617	biolink:NamedThing	recurrent hypersomnia	Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)	mondoexuq1wtf	primary recurrent hypersomnia											ICD10:G47.13|ICD9:327.13|SCTID:426451004|DOID:8619|UMLS:C0751226																		owl:Class
MONDO:0017503	biolink:NamedThing	acheiria, bilateral		mondoexuq1wtf	congenital absence of hand, bilateral											Orphanet:295103|ICD10:Q71.3|SCTID:371189003																		owl:Class
MONDO:0017445	biolink:NamedThing	acheiria		mondoexuq1wtf	congenital absence of hand											Orphanet:294983|ICD10:Q71.3|SCTID:371199008																		owl:Class
MONDO:0019554	biolink:NamedThing	idiopathic localized lipodystrophy	Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).	mondoexuq1wtf												ICD10:E88.1|Orphanet:90158|UMLS:CN227650																		owl:Class
MONDO:0019194	biolink:NamedThing	localized lipodystrophy	Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body.	mondoexuq1wtf	drug-induced localized lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype)|idiopathic localized lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)|centrifugal lipodystrophy (subtype)											UMLS:CN227583|GARD:0005867|Orphanet:79088|NCIT:C131814|ICD10:E88.1|UMLS:C4329999														https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy				owl:Class
MONDO:0020581	biolink:NamedThing	benign PEComa	A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.	mondoexuq1wtf	benign neoplasm with perivascular epithelioid cell differentiation|neoplasm with perivascular epithelioid cell differentiation, benign|typical PEComa|benign PEComa, not otherwise specified|benign PEComa|benign PEComa, nos											UMLS:C3839685|NCIT:C121791																		owl:Class
MONDO:0008519	biolink:NamedThing	multiple synostoses syndrome 1	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.	mondoexuq1wtf	SYNS1|symphalangism-brachydactyly syndrome|Wl syndrome|deafness-symphalangism syndrome of Herrmann|synostoses, multiple, with brachydactyly|multiple synostoses syndrome caused by mutation in NOG|multiple synostoses syndrome 1|synostoses multiple with brachydactyly|nog multiple synostoses syndrome|NOG multiple synostoses syndrome|symphalangism brachydactyly syndrome|multiple synostoses syndrome type 1|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome											OMIM:186500|UMLS:C0342282|GARD:0003836																		owl:Class
MONDO:0018064	biolink:NamedThing	trigonocephaly-broad thumbs syndrome	Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	mondoexuq1wtf	Hunter Rudd Hoffmann syndrome|Hunter-Rudd-Hoffmann syndrome											ICD10:Q87.0|GARD:0002756|SCTID:719949001|Orphanet:3365																		owl:Class
MONDO:0023093	biolink:NamedThing	exertional headache		mondoexuq1wtf	primary headache associated with sexual activity|primary Exertional headache											GARD:0010800														https://rarediseases.info.nih.gov/diseases/10800/exertional-headache				owl:Class
MONDO:0016488	biolink:NamedThing	beta-thalassemia associated with another hemoglobin anomaly	Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ].	mondoexuq1wtf	Beta-thalassemia associated with another Hb anomaly											Orphanet:231230|ICD10:D58.2																		owl:Class
MONDO:0003637	biolink:NamedThing	clear cell-sugar-tumor of the lung	A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.	mondoexuq1wtf	clear cell-Sugar-tumor of lung|lung clear cell-sugar-tumor|clear cell-Sugar-tumor of the lung|lung clear cell tumor|Sugar tumor|CCSTL											UMLS:C1333065|NCIT:C38152|DOID:5763																		owl:Class
MONDO:0008405	biolink:NamedThing	scapula, contour of vertebral border of		mondoexuq1wtf	scapula, contour of vertebral border of											OMIM:181300																		owl:Class
MONDO:0025003	biolink:NamedThing	goat disease	Diseases of the domestic or wild goat of the genus Capra.	mondoexuq1wtf	goat disease|disease, goat|caprine disease|caprine diseases|disease, caprine|diseases, goat|diseases, caprine											MESH:D015511|UMLS:C0018018																		owl:Class
MONDO:0044210	biolink:NamedThing	thalassemia minor	The inheritance of only one mutated beta-globin allele (beta+ or beta0).	mondoexuq1wtf	beta thalassemia trait											SCTID:19442009|MedDRA:10054662|SCDO:0000114|ICD10:D56.3																		owl:Class
MONDO:0025417	biolink:NamedThing	fowlpox	A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.	mondoexuq1wtf	fowl Diphtherias|fowl pox|pox, Bird|epithelioma contagiosum|Bird pox|Birdpox|fowl diphtheria|Variola avium|pox, fowl|Diphtherias, fowl|diphtheria, fowl											MESH:D005586																		owl:Class
MONDO:0001544	biolink:NamedThing	tibial nerve palsy		mondoexuq1wtf						Editor note: todo						UMLS:C0154751|SCTID:365258000|ICD9:355.8|DOID:12529																		owl:Class
MONDO:0012685	biolink:NamedThing	major affective disorder 5		mondoexuq1wtf	MAFD5|bipolar affective disorder|major affective disorder 5|MAJOR affective disorder 5											MESH:C567074|OMIM:611535																		owl:Class
MONDO:0001001	biolink:NamedThing	baritosis	A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.	mondoexuq1wtf	inhalation of barytes|deposition of barium in the lungs					Editor note: request term from ENVO						DOID:10321|ICD9:503|UMLS:C0340177|SCTID:50076003|MESH:C537080|NCIT:C34410|GARD:0008371														https://rarediseases.info.nih.gov/diseases/8371/baritosis				owl:Class
MONDO:0008265	biolink:NamedThing	polycystic liver disease 1	A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.	mondoexuq1wtf	polycystic liver disease|isolated polycystic liver disease|ADPCLD|nonsyndromic polycystic liver disease (disease)|polycystic liver disease 1 with or without kidney cysts|autosomal dominant polycystic liver disease|PCLD|PCLD1|isolated congenital polycystic liver disease|isolated autosomal dominant polycystic liver disease|nonsyndromic congenital polycystic liver disease											UMLS:C4255088|OMIM:174050|MedDRA:10048834|SCTID:716196007|MedDRA:10010427|ICD10:Q44.6																		owl:Class
MONDO:0011954	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 4		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, 4|CMM4											OMIM:608035																		owl:Class
CL:0000782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004769	biolink:NamedThing	orbital plasma cell granuloma	A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).	mondoexuq1wtf	pseudotumor, inflammatory, orbital|pseudotumor of orbit|granuloma, plasma cell, orbital|plasma cell granuloma, orbital|inflammatory pseudotumor, orbital|pseudotumor, orbital inflammatory|inflammatory pseudotumor of orbit|pseudotumors, orbital|orbital granuloma, plasma cell|orbital inflammatory pseudotumors|orbital myositis|orbital pseudotumors|orbital inflammatory pseudotumor|inflammatory pseudotumors, orbital|pseudotumor, orbital					Editor note: check relationship to orbotral granuloma						MESH:D016727|ICD9:376.12|SCTID:80698001|COHD:433774|ICD10:H05.11|SCTID:72789009|NCIT:C117296|DOID:9369																		owl:Class
MONDO:0005077	biolink:NamedThing	pertussis	A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.	mondoexuq1wtf	Bordetella pertussis disease or disorder|whooping cough|pertussis|Bordetella pertussis infection|Bordetella pertussis infectious disease|Bordetella infection|infection due to Bordetella pertussis|Bordetella pertussis caused disease or disorder|WC - whooping cough											NCIT:C85231|DOID:1116|ICD10:A37.1|ICD9:033|ICD10:A37.9|KEGG:05133|MedDRA:10034738|SCTID:27836007|ICD9:033.0|MedDRA:10047974|COHD:257778|ICD10:A37.8|GARD:0008692|EFO:0000650|UMLS:C0043167|MESH:D014917|Orphanet:1489|ICD10:A37.0|ICD9:033.9														https://rarediseases.info.nih.gov/diseases/8692/whooping-cough				owl:Class
MONDO:0021312	biolink:NamedThing	malignant tumor of adrenal cortex	A cancer that involves the adrenal cortex.	mondoexuq1wtf	malignant tumor of the adrenal cortex|cancer of adrenal cortex|malignant adrenocortical tumor|malignant neoplasm of the adrenal cortex|malignant adrenocortical neoplasm|malignant adrenal cortex neoplasm|adrenal cortex cancer|malignant adrenal cortex tumor|malignant neoplasm of adrenal cortex											SCTID:371964008|NCIT:C9327																		owl:Class
MONDO:0010753	biolink:NamedThing	cardiac valvular dysplasia, X-linked		mondoexuq1wtf	cardiac valvular dysplasia, X-linked|congenital valvular dysplasia|CVD1|XMVD|valvular heart disease, congenital|myxomatous valvular dystrophy, X-linked											Orphanet:555877|SCTID:718128009|DOID:0111765|ICD10:Q24.8|Orphanet:1864|GARD:0001096|OMIM:314400|MESH:C535576														https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked				owl:Class
MONDO:0001781	biolink:NamedThing	uterine corpus adenomatoid tumor	A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.	mondoexuq1wtf	uterine corpus adenomatoid tumor|body of uterus adenomatoid tumor|uterine corpus localized epithelial mesothelioma											UMLS:C1336902|DOID:1371|NCIT:C27250																		owl:Class
MONDO:0006908	biolink:NamedThing	pituitary apoplexy	A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.	mondoexuq1wtf	pituitary gland apoplexy											Orphanet:95613|ICD9:253.8|DOID:1129|NCIT:C26853|ICD10:E23.6|MESH:D010899|MedDRA:10056447|SCTID:237701005|UMLS:C0032001|EFO:1001108																		owl:Class
MONDO:0002544	biolink:NamedThing	brain oligodendroglioma	A oligodendroglioma that involves the brain.	mondoexuq1wtf	oligodendroglioma of brain|brain oligodendroglioma|oligodendroglioma of the brain											NCIT:C9377|SCTID:254940005|DOID:3187|UMLS:C0346286																		owl:Class
MONDO:0044786	biolink:NamedThing	solid pseudopapillary neoplasm of the pancreas	A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.	mondoexuq1wtf	Frantz tumor|solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary tumor of the pancreas											NCIT:C37212|ONCOTREE:SPN																		owl:Class
MONDO:0007948	biolink:NamedThing	marfanoid hypermobility syndrome		mondoexuq1wtf	marfanoid hypermobility syndrome											GARD:0003387|OMIM:154750|UMLS:C0268365|MESH:C531742														https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome				owl:Class
MONDO:0015903	biolink:NamedThing	hyperalphalipoproteinemia	An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.	mondoexuq1wtf	HALP1											ICD9:272.4|SCTID:238080004|UMLS:C0342883|ICD10:E78.4|NCIT:C128806|Orphanet:181428																		owl:Class
MONDO:0037748	biolink:NamedThing	hyperlipoproteinemia	An elevated concentration of lipoproteins.	mondoexuq1wtf	hyperlipoproteinemia											NCIT:C34709|HP:0010980|UMLS:C0020476																		owl:Class
MONDO:0033008	biolink:NamedThing	Galloway-Mowat syndrome 4		mondoexuq1wtf	GAMOS4|Galloway-Mowat syndrome 4											DOID:0080246|UMLS:CN570506|OMIM:617730																		owl:Class
MONDO:0000340	biolink:NamedThing	bulbospinal polio	A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.	mondoexuq1wtf						Editor note: TODO align with anatomy						DOID:0050514																		owl:Class
MONDO:0002747	biolink:NamedThing	endometrial mucinous adenocarcinoma	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	mondoexuq1wtf	uterine corpus mucinous adenocarcinoma|uterine mucinous carcinoma|endometrial mucinous adenocarcinoma|endometrium mucinous adenocarcinoma											EFO:1000236|DOID:3707|UMLS:C1519859|ONCOTREE:UMC|NCIT:C40144																		owl:Class
MONDO:0006283	biolink:NamedThing	lymphoepithelioma-like lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.	mondoexuq1wtf	lymphoepithelioma-like carcinoma of the lung											EFO:1000340|UMLS:C1708792|ONCOTREE:LECLC|NCIT:C45519																		owl:Class
MONDO:0013314	biolink:NamedThing	retinitis pigmentosa 56	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.	mondoexuq1wtf	maculopathy, Impg2-related|retinitis pigmentosa 56|retinitis pigmentosa type 56|IMPG2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in IMPG2|RP56											DOID:0110371|OMIM:613581|ICD10:H35.5|UMLS:C3150819																		owl:Class
MONDO:0011988	biolink:NamedThing	neutrophil immunodeficiency syndrome	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	mondoexuq1wtf	neutrophil immunodeficiency syndrome											MESH:C564275|OMIM:608203|SCTID:723443003|UMLS:C1842398|Orphanet:183707|ICD10:D71																		owl:Class
MONDO:0021221	biolink:NamedThing	vestibulocochlear nerve neoplasm	A neoplasm (disease) that involves the vestibulocochlear nerve.	mondoexuq1wtf	neoplasm of vestibulocochlear nerve|tumor of vestibulocochlear nerve|neoplasm of the vestibulocochlear nerve|tumor of eighth cranial nerve|eighth cranial nerve tumor|neoplasm of the acoustic nerve|vestibulocochlear nerve neoplasms|eighth cranial nerve neoplasm|Vestibuloacoustic nerve neoplasms|neoplasm of the eighth cranial nerve|eighth cranial nerve neoplasms|vestibulocochlear nerve tumor|acoustic nerve neoplasm|tumor of the vestibulocochlear nerve|tumor of acoustic nerve|tumor of the acoustic nerve|acoustic nerve tumor|vestibulocochlear nerve neoplasm (disease)|neoplasm of acoustic nerve|tumor of the eighth cranial nerve|neoplasm of eighth cranial nerve|cranial nerve eight neoplasms											SCTID:387891008|NCIT:C5120|UMLS:C0346330																		owl:Class
MONDO:0011124	biolink:NamedThing	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD											OMIM:601668|ICD10:Q77.7|Orphanet:168451|MESH:C566644|UMLS:C1866507																		owl:Class
MONDO:0009656	biolink:NamedThing	Sanfilippo syndrome type B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	mondoexuq1wtf	NAGLU deficiency|MPSIIIB|N-Acetyl-Alpha-D-glucosaminidase deficiency|MPS III B|MPS IIIB|mucopolysaccharidosis type IIIB|Sanfilippo B|N-acetyl-alpha-glucosaminidase deficiency|Mucopoly-saccharidosis type 3B|Sanfilippo syndrome B|mucopolysaccharidosis, type 3B|mucopolysaccharidosis type 3B|MPS 3B|mucopolysaccharidosis, type IIIB|MPS3B											OMIM:252920|NCIT:C84898|ICD10:E76.2|DOID:0111394|UMLS:C0086648|Orphanet:79270|GARD:0007072|SCTID:59990008																		owl:Class
MONDO:0010610	biolink:NamedThing	holoprosencephaly-hypokinesia-congenital contractures syndrome	Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.	mondoexuq1wtf	holoprosencephaly with fetal akinesia/hypokinesia sequence|holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome|Morse-Rawnsley-Sargent syndrome											GARD:0003788|Orphanet:2570|ICD10:Q04.2|SCTID:716169009|MESH:C564409|OMIM:306990																		owl:Class
MONDO:0010529	biolink:NamedThing	X-linked spinocerebellar ataxia type 3	X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	mondoexuq1wtf	ataxia-deafness syndrome, X-linked|SCAX3|spinocerebellar ataxia, X-linked 3|X-linked ataxia-deafness syndrome|spinocerebellar ataxia, X-linked type 3|Scax3|spinocerebellar ataxia X-linked type 3|ataxia-deafness syndrome X-linked											UMLS:C1844936|GARD:0009981|ICD10:G11.1|MESH:C537315|SCTID:719817002|Orphanet:85297|OMIM:301790														https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3				owl:Class
MONDO:0001588	biolink:NamedThing	chronic lacrimal gland enlargement		mondoexuq1wtf	chronic enlargement of lacrimal gland											UMLS:C1300133|SCTID:4839005|ICD9:375.03|DOID:12809|ICD10:H04.03|COHD:381867																		owl:Class
MONDO:0022402	biolink:NamedThing	agyria-pachygyria type 1	A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.	mondoexuq1wtf	type I lissencephaly|Bielchowsky type of lissencephaly											GARD:0000573														https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1				owl:Class
MONDO:0032900	biolink:NamedThing	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS|NEDHAHM											OMIM:618760																		owl:Class
MONDO:0002944	biolink:NamedThing	external ear carcinoma	A carcinoma that arises from epithelial cells of the external ear	mondoexuq1wtf	carcinoma of external ear|carcinoma of external Ear|carcinoma of the external Ear|carcinoma of the external ear|external Ear carcinoma|external ear carcinoma											UMLS:C1333492|NCIT:C6081|DOID:4288																		owl:Class
MONDO:0017336	biolink:NamedThing	fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency		mondoexuq1wtf	fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency											ICD10:I42.2|Orphanet:289527																		owl:Class
MONDO:0009899	biolink:NamedThing	polyhydramnios, chronic idiopathic		mondoexuq1wtf	Lactogen receptor defect of chorion|polyhydramnios, chronic idiopathic											MESH:C564876|UMLS:C1849720|OMIM:263610																		owl:Class
MONDO:0040501	biolink:NamedThing	ehlers-danlos syndrome, arthrochalasia type, 2		mondoexuq1wtf	EDS VIIB|Ehlers-Danlos syndrome, arthrochalasia type, 2|EDS 7B|EDSARTH2|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant											OMIM:617821																		owl:Class
MONDO:0007294	biolink:NamedThing	central core myopathy	An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.	mondoexuq1wtf	Cco|multicore myopathy, moderate, with hand involvement|myopathy, central fibrillar|myopathy, central core|muscle core disease|minicore myopathy, moderate, with hand involvement|central CORE disease of muscle|multiminicore disease, moderate, with hand involvement|Shy-Magee syndrome|CCD|muscular central core disease|central core disease|neuromuscular disease, congenital, with uniform type 1 Fiber											NCIT:C83010|UMLS:C0751951|ICD10:G71.2|MESH:D020512|EFO:1000855|OMIM:117000|Orphanet:597|SCTID:43152001|GARD:0006014|DOID:3529																		owl:Class
MONDO:0013317	biolink:NamedThing	torsade-de-pointes syndrome with short coupling interval	Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	mondoexuq1wtf	torsade DE pointes, short-coupled variant											Orphanet:51084|OMIM:613600|SCTID:718104007|UMLS:C3150851|ICD10:I49.8																		owl:Class
MONDO:0018569	biolink:NamedThing	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	mondoexuq1wtf												ICD10:Q87.8|UMLS:CN237580|Orphanet:435938																		owl:Class
MONDO:0009456	biolink:NamedThing	Immunoerythromyeloid hypoplasia		mondoexuq1wtf	Immunoerythromyeloid hypoplasia											OMIM:242880|UMLS:CN074232																		owl:Class
MONDO:0015975	biolink:NamedThing	hyper-IgM syndrome with susceptibility to opportunistic infections		mondoexuq1wtf	HIGM with susceptibility to opportunistic infections											UMLS:CN200572|ICD10:D80.5|Orphanet:183663																		owl:Class
MONDO:0015200	biolink:NamedThing	anisakiasis	Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.	mondoexuq1wtf	Anisakis simplex infection|infection by Anisakis larva|Pseudoterranova infection|infections, Anisakis simplex|Anisakiases|Anisakis infection											MESH:D017129|GARD:0000693|UMLS:C0162576|SCTID:442652006|ICD9:127.1|ICD10:B81.0|MedDRA:10002533|NCIT:C128393|DOID:7033|Orphanet:1070|EFO:0007146														https://rarediseases.info.nih.gov/diseases/693/anisakiasis				owl:Class
MONDO:0007549	biolink:NamedThing	generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.	mondoexuq1wtf	dystrophic epidermolysis bullosa, autosomal dominant|epidermolysis bullosa dystrophica with subcorneal Cleavage|dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Pasini type|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|DDEB-gen|epidermolysis bullosa dystrophica, Pasini type (formerly)|epidermolysis bullosa dystrophica, autosomal dominant|Albopapuloid dominant dystrophic epidermolysis bullosa|DDEB, Pasini and Cockayne-Touraine types|DDEB, generalized|epidermolysis bullosa dystrophica, Cockayne-Touraine type|DDEB|dominant dystrophic epidermolysis bullosa|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|autosomal dominant dystrophic epidermolysis bullosa											GARD:0002139|OMIM:131750|Orphanet:231568|DOID:0080224|ICD10:Q81.2|ICD9:757.39|SCTID:75875004																		owl:Class
MONDO:0008182	biolink:NamedThing	nasopalpebral lipoma-coloboma syndrome	Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.	mondoexuq1wtf	NASOPALPEBRAL lipoma-coloboma syndrome|palpebral coloboma-lipoma syndrome|nasopalpebral lipoma-coloboma syndrome|palpebral coloboma lipoma syndrome|Nasopalpebral lipoma coloboma syndrome|NPLCS											Orphanet:2399|GARD:0003927|MESH:C538338|OMIM:167730|ICD10:Q10.3|UMLS:C1868660|SCTID:723411003														https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome				owl:Class
MONDO:0020729	biolink:NamedThing	autosomal recessive agammaglobulinemia 1		mondoexuq1wtf	AGM1|agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia 1, autosomal recessive											OMIM:601495																		owl:Class
MONDO:0014861	biolink:NamedThing	autoimmune disease, multisystem, infantile-onset, 2	Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.	mondoexuq1wtf	autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, type 2|ADMIO2|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset, 2											UMLS:C4310768|OMIM:617006																		owl:Class
MONDO:0100020	biolink:NamedThing	atypical childhood epilepsy with centrotemporal spikes	A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.	mondoexuq1wtf	atonic-benign childhood epilepsy with centrotemporal spikes|atypical benign partial epilepsy of childhood|pseudo-Lennox syndrome				2018-06-22 22:43:29+00:00																									owl:Class
MONDO:0008403	biolink:NamedThing	scalp defects-postaxial polydactyly syndrome	Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.	mondoexuq1wtf	congenital scalp defects associated with postaxial polydactyly|scalp defects postaxial polydactyly|scalp defects and postaxial polydactyly											Orphanet:1003|GARD:0000241|MESH:C536622|UMLS:C1867021|ICD10:Q87.2|OMIM:181250																		owl:Class
MONDO:0009201	biolink:NamedThing	facial abnormalities, kyphoscoliosis, and intellectual disability		mondoexuq1wtf	facial abnormalities, kyphoscoliosis, and intellectual disability|facial abnormalities, kyphoscoliosis, and mental retardation											UMLS:C1856893|MESH:C565580|OMIM:227250																		owl:Class
MONDO:0011620	biolink:NamedThing	metaphyseal dysplasia, Braun-Tinschert type	Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.	mondoexuq1wtf	metaphyseal dysplasia, Braun-Tinschert type											ICD10:Q78.5|Orphanet:85188|MESH:C565271|SCTID:717221005|OMIM:605946|UMLS:C1853825																		owl:Class
MONDO:0016618	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies		mondoexuq1wtf	rheumatoid factor-negative JIA without anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies|polyarthritis without rheumatoid factor without anti-nuclear antibodies											ICD10:M08.3|Orphanet:247861																		owl:Class
MONDO:0004320	biolink:NamedThing	adult infiltrating astrocytic neoplasm		mondoexuq1wtf	adult infiltrating astrocytoma|adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm											UMLS:C0281329|NCIT:C8289|DOID:7656																		owl:Class
MONDO:0044321	biolink:NamedThing	structural heart defects and renal anomalies syndrome		mondoexuq1wtf	SHDRA|structural heart defects and renal anomalies syndrome											UMLS:C4479549|OMIM:617478																		owl:Class
MONDO:0006429	biolink:NamedThing	splenic hodgkin lymphoma	A rare Hodgkin lymphoma that arises from the spleen.	mondoexuq1wtf	Hodgkin's lymphoma of the spleen|splenic Hodgkin's lymphoma|primary splenic Hodgkin's lymphoma|splenic Hodgkin's disease|Hodgkin's lymphoma of spleen|splenic Hodgkins lymphoma|Hodgkin's disease of spleen|Hodgkin's disease of the spleen											EFO:1000548|NCIT:C7295|UMLS:C0153791|SCTID:93527005																		owl:Class
MONDO:0000727	biolink:NamedThing	scapuloperoneal myopathy	A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.	mondoexuq1wtf	myopathy, scapuloperoneal|scapuloperoneal syndrome, myopathic type											UMLS:C2931268|DOID:0060253|MESH:C536624																		owl:Class
MONDO:0006566	biolink:NamedThing	keratosis	A skin disorder consisting of hypertrophy of the stratum corneum of the skin.	mondoexuq1wtf	keratoderma											NCIT:C34745|UMLS:C0022593|MESH:D007642|EFO:1000720|SCTID:254666005|DOID:161																		owl:Class
MONDO:0004199	biolink:NamedThing	vulvar keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.	mondoexuq1wtf	vulvar keratinizing squamous cell carcinoma											DOID:7363|NCIT:C40284|UMLS:C2109334																		owl:Class
MONDO:0012902	biolink:NamedThing	autosomal dominant nonsyndromic deafness 27	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness type 27|deafness, autosomal dominant 27|autosomal dominant deafness 27|DFNA27											OMIM:612431|ICD10:H90.3|DOID:0110556																		owl:Class
MONDO:0013975	biolink:NamedThing	ectodermal dysplasia 7, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.	mondoexuq1wtf	pure hair and nail ectodermal dysplasia caused by mutation in KRT74|ECTD7|KRT74 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 7, hair/nail type											OMIM:614929|DOID:0111660|UMLS:C3554117																		owl:Class
MONDO:0032865	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5		mondoexuq1wtf	PFBMFT5|PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5											OMIM:618674																		owl:Class
MONDO:0012631	biolink:NamedThing	Alzheimer disease 14	An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.	mondoexuq1wtf	Alzheimer disease 14|AD14|Alzheimer's disease 14|Alzheimer's disease type 14											DOID:0110047|OMIM:611154|ICD10:G30|UMLS:C1970144|MESH:C566999																		owl:Class
MONDO:0008866	biolink:NamedThing	bifid nose, autosomal recessive	Autosomal recessive form of bifid nose.	mondoexuq1wtf	autosomal recessive bifid nose|Nose, Median cleft of|median fissure of Nose|bifid nose, autosomal recessive											OMIM:210400																		owl:Class
MONDO:0009293	biolink:NamedThing	glycogen storage disease V	Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.	mondoexuq1wtf	glycogen storage disease caused by mutation in PYGM|glycogen storage disease due to muscle glycogen phosphorylase deficiency|Pygm deficiency|GSD type V|McArdle disease|glycogenosis type 5|PYGM glycogen storage disease|GSD5|glycogenosis due to muscle glycogen phosphorylase deficiency|glycogenosis type V|GSD 5|myophosphorylase deficiency|glycogen storage disease type 5|McArdle's disease|glycogen storage disease V|glycogen storage disease 5|glycogen storage disease type V|McArdle type glycogen storage disease|Mcardle disease|GSD due to muscle glycogen phosphorylase deficiency|glycogen storage disease, type V|GSD type 5|muscle glycogen phosphorylase deficiency											ICD10:E74.04|MedDRA:10018462|NCIT:C84738|DOID:2746|Orphanet:368|ICD10:E74.0|MESH:D006012|GARD:0006528|UMLS:C0017924|SCTID:55912009|OMIM:232600																		owl:Class
MONDO:0002894	biolink:NamedThing	spinal chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	mondoexuq1wtf	spinal column chordoma|chordoma of spinal column|chordoma of spine|chordoma of the spinal column|spinal Chordomas|spinal chordoma											DOID:4153|EFO:1000543|UMLS:C1859101|NCIT:C5156																		owl:Class
MONDO:0004875	biolink:NamedThing	xanthogranulomatous cholecystitis	Cholecystitis that is characterized by nodules containing lipid.	mondoexuq1wtf	CX											MESH:C536762|DOID:9766|UMLS:C1337035|NCIT:C35792|SCTID:448286002|GARD:0009451														https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis				owl:Class
MONDO:0010947	biolink:NamedThing	Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	mondoexuq1wtf	membranous obstruction of Inferior vena cava|BDCHS|Budd-Chiari syndrome|membranous obstruction of the inferior vena cava											MedDRA:10006537|GARD:0005968|COHD:196715|MESH:D006502|ICD9:453.0|Orphanet:131|UMLS:C0856761|OMIM:600880|SCTID:82385007|ICD10:I82.0														https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome				owl:Class
MONDO:0019153	biolink:NamedThing	brain malformation-congenital heart disease-postaxial polydactyly syndrome	Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	mondoexuq1wtf	Goossens-Devriendt syndrome											SCTID:717943008|UMLS:C4303545|Orphanet:75389|ICD10:Q87.8																		owl:Class
MONDO:0030049	biolink:NamedThing	46,xx sex reversal 5		mondoexuq1wtf	46,XX SEX REVERSAL 5|46,xx sex reversal 5|SRXX5											OMIM:618901																		owl:Class
MONDO:0019814	biolink:NamedThing	straddling or overriding tricuspid valve	Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.	mondoexuq1wtf												Orphanet:95461|ICD10:Q22.8																		owl:Class
MONDO:0002321	biolink:NamedThing	sensory peripheral neuropathy	Inflammation or degeneration of the sensory nerves.	mondoexuq1wtf	sensory neuropathy|peripheral sensory neuropathy|sensory nerve peripheral neuropathy|peripheral neuropathy of sensory nerve											ICD9:356.2|ICD9:356.9|UMLS:C0151313|DOID:2491|SCTID:95662005|NCIT:C3501																		owl:Class
MONDO:0022880	biolink:NamedThing	corticobasal degeneration		mondoexuq1wtf	corticodentatonigral degeneration with neuronal achromasia|corticobasal degeneration|cortical basal ganglionic degeneration											SCTID:18842008																		owl:Class
MONDO:0014497	biolink:NamedThing	polyendocrine-polyneuropathy syndrome		mondoexuq1wtf	polyendocrine-polyneuropathy syndrome|PEPNS											Orphanet:453533|UMLS:C4015261|OMIM:616113																		owl:Class
MONDO:0024501	biolink:NamedThing	appendix neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	mondoexuq1wtf	appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor|neuroendocrine neoplasm of vermiform appendix|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix NET											NCIT:C60709																		owl:Class
MONDO:0018725	biolink:NamedThing	corpus callosum agenesis-macrocephaly-hypertelorism syndrome		mondoexuq1wtf	dup(7)(q36.3)|7q36.3 microduplication syndrome											UMLS:CN242137|Orphanet:459074|ICD10:Q04.0																		owl:Class
MONDO:0019103	biolink:NamedThing	benign exophthalmos syndrome	Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.	mondoexuq1wtf	bes											SCTID:719519007|Orphanet:71269|ICD10:H05.2|UMLS:C4304668																		owl:Class
MONDO:0004269	biolink:NamedThing	breast cystic hypersecretory carcinoma		mondoexuq1wtf	cystic hypersecretory duct carcinoma of the breast|cystic hypersecretory carcinoma of the breast											DOID:7537																		owl:Class
MONDO:0003208	biolink:NamedThing	breast secretory carcinoma	A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.	mondoexuq1wtf	juvenile carcinoma (formerly)|secretory breast carcinoma|juvenile carcinoma of the breast (morphologic abnormality)|infiltrating cystic hypersecretory duct breast carcinoma|SBC|cystic hypersecretory carcinoma of the breast|JSCB|juvenile breast carcinoma|juvenile secretory breast carcinoma|juvenile carcinoma of breast|secretory carcinoma of breast|juvenile secretory carcinoma of breast|cystic hypersecretory breast carcinoma|juvenile secretory carcinoma of the breast|juvenile carcinoma of the breast|cystic hypersecretory carcinoma of breast|secretory carcinoma|secretory carcinoma of the breast|invasive cystic hypersecretory duct breast carcinoma											NCIT:C4189|GARD:0009408|UMLS:C0334371|DOID:4922|ICDO:8508/3|ONCOTREE:JSCB|MESH:C537535|ICDO:8502/3														https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma				owl:Class
MONDO:0014277	biolink:NamedThing	developmental dysplasia of the hip 2		mondoexuq1wtf	developmental dysplasia of the hip 2|DDH2											OMIM:615612|UMLS:C3715079																		owl:Class
MONDO:0020509	biolink:NamedThing	secondary syringomyelia	Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	mondoexuq1wtf												ICD10:G95.0|Orphanet:99857																		owl:Class
MONDO:0013926	biolink:NamedThing	hypogonadotropic hypogonadism 14 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 14 with or without anosmia|HH14|hypogonadotropic hypogonadism caused by mutation in WDR11|WDR11 hypogonadotropic hypogonadism											UMLS:C3540450|OMIM:614858|ICD10:E23.0|DOID:0090087																		owl:Class
MONDO:0014907	biolink:NamedThing	short-rib thoracic dysplasia 15 with polydactyly		mondoexuq1wtf	short-rib thoracic dysplasia 15 with polydactyly; SRTD15|SRTD15|short-rib thoracic dysplasia 15 with polydactyly											OMIM:617088|UMLS:C4310724																		owl:Class
MONDO:0002507	biolink:NamedThing	gingival overgrowth	Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)	mondoexuq1wtf	gingival enlargement											MESH:D019214|DOID:3086|ICD9:523.8|SCTID:54711002|ICD10:K06.1																		owl:Class
MONDO:0008343	biolink:NamedThing	pulmonary atresia with ventricular septal defect	Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.	mondoexuq1wtf	pulmonary atresia with ventricular septal defect|pulmonary valve atresia with ventricular septal defect											UMLS:C0344976|ICD10:Q25.5|Orphanet:1207|NCIT:C99033|OMIM:178370|SCTID:253591008|GARD:0004588|MESH:C562833														https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect				owl:Class
MONDO:0014750	biolink:NamedThing	primary ciliary dyskinesia 33	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 33, without situs inversus|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, 33|primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 33|CILD33|primary ciliary dyskinesia 33 without situs inversus											DOID:0110619|ICD10:Q34.8|UMLS:C4225230|OMIM:616726																		owl:Class
MONDO:0012196	biolink:NamedThing	autosomal dominant auditory neuropathy 1	Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.	mondoexuq1wtf	nonsyndromic dominant auditory neuropathy|auditory neuropathy caused by mutation in DIAPH3|autosomal dominant auditory neuropathy type 1|auditory neuropathy, nonsyndromic dominant|auditory neuropathy, autosomal dominant, 1|NSDAN|AUNA1|DIAPH3 auditory neuropathy|auditory neuropathy, autosomal dominant, type 1											DOID:0060690|UMLS:C1836743|MESH:C563790|ICD10:H90.3|OMIM:609129																		owl:Class
MONDO:0002463	biolink:NamedThing	lacrimal gland carcinoma	A carcinoma that arises from epithelial cells of the lacrimal gland.	mondoexuq1wtf	carcinoma of the lacrimal gland|lacrimal gland carcinoma|carcinoma of lacrimal gland											DOID:293|NCIT:C6129|UMLS:C1334358																		owl:Class
MONDO:0009141	biolink:NamedThing	torsion dystonia 2	Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.	mondoexuq1wtf	torsion dystonia type 2|primary dystonia, DYT2 type|DYT2|torsion dystonia 2, autosomal recessive type|dystonic disorder caused by mutation in HPCA|autosomal recessive torsion dystonia 2|dystonia musculorum deformans type 2|dystonia musculorum deformans 2|dystonia 2, torsion, autosomal recessive|HPCA dystonic disorder											UMLS:C1857093|DOID:0090038|OMIM:224500|MESH:C538006|Orphanet:99657|GARD:0002028|ICD10:G24.1|NCIT:C123415																		owl:Class
MONDO:0026723	biolink:NamedThing	intellectual developmental disorder, X-linked 108		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108|Mental Retardation, X-Linked 108|MRX108											OMIM:301024																		owl:Class
MONDO:0013238	biolink:NamedThing	chromosome 17q23.1-q23.2 deletion syndrome	17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	mondoexuq1wtf	17q23.1-q23.2 microdeletion syndrome|Del(17)(q23.1q23.2)|chromosome 17q23.1-q23.2 deletion syndrome|monosomy 17q23.1-q23.2|17q23.1q23.2 microdeletion syndrome|monosomy 17q23.1q23.2											Orphanet:261279|UMLS:C3150607|DOID:0060405|GARD:0010936|ICD10:Q93.5|OMIM:613355|UMLS:C4304591|SCTID:719584008																		owl:Class
MONDO:0016291	biolink:NamedThing	craniosynostosis, Herrmann-Opitz type	Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	Herrmann Opitz craniosynostosis											UMLS:CN226893|GARD:0002671|Orphanet:2145|ICD10:Q75.0																		owl:Class
MONDO:0013345	biolink:NamedThing	d-2-hydroxyglutaric aciduria 2	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.	mondoexuq1wtf	D2HGA2|D-2-hydroxyglutaric aciduria type 2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2|D-2-hydroxyglutaric aciduria 2|IDH2 D-2-hydroxyglutaric aciduria|d-2-hydroxyglutaric aciduria 2											OMIM:613657|DOID:0111352|UMLS:C3150909																		owl:Class
MONDO:0010924	biolink:NamedThing	D-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.	mondoexuq1wtf	D-2-hydroxyglutaric acidemia|D2HA|D-2-HGA|D-2-hydroxyglutaric aciduria 1|D2HGA|D-2-hydroxyglutaric aciduria type 1											OMIMPS:600721|UMLS:C1833429|SCTID:237960000|UMLS:CN233040|ICD10:E72.8|GARD:0005661|Orphanet:79315|DOID:0050575																		owl:Class
MONDO:0013928	biolink:NamedThing	dystonia 23	Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.	mondoexuq1wtf	CACNA1B dystonic disorder|adult-onset cervical dystonia, DYT23 type|dystonia 23|dystonia type 23|dystonic disorder caused by mutation in CACNA1B|DYT23											OMIM:614860|DOID:0090051|Orphanet:420492|ICD10:G24.8|UMLS:C3538999																		owl:Class
MONDO:0013484	biolink:NamedThing	cataract 36	Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.	mondoexuq1wtf	CATC4|autosomal recessive congenital cataract 4|CTRCT36|TDRD7 cataract (disease)|cataract type 36|cataract 36|cataract (disease) caused by mutation in TDRD7|cataract, autosomal recessive congenital 4											DOID:0110247|UMLS:C3151304|OMIM:613887																		owl:Class
MONDO:0033652	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 17		mondoexuq1wtf	MC4DN17											OMIM:619061																		owl:Class
MONDO:0033203	biolink:NamedThing	nephrotic syndrome 14		mondoexuq1wtf	nephrotic syndrome, type 14|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|nephrotic syndrome 14|NPHS14											UMLS:CN339707|OMIM:617575|Orphanet:506334|DOID:0080265																		owl:Class
MONDO:0022693	biolink:NamedThing	cerebral calcification cerebellar hypoplasia		mondoexuq1wtf												GARD:0001201														https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia				owl:Class
MONDO:0007288	biolink:NamedThing	cataract 6 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.	mondoexuq1wtf	Posterior polar cataract, 1|cataract, posterior polar, 1|cataract, age-related cortical, 2|EPHA2 cataract (disease)|age related cortical cataract 2|CTPP|CTPP1|cataract (disease) caused by mutation in EPHA2|CTPA|CTRCT6|ARCC2|posterior polar cataract 1|cataract 6, multiple types											OMIM:116600|ICD10:Q12.0|DOID:0110229|GARD:0010234																		owl:Class
MONDO:0008321	biolink:NamedThing	pruritus, hereditary localized		mondoexuq1wtf	pruritus, hereditary localized											UMLS:C1867499|MESH:C566754|OMIM:177100																		owl:Class
MONDO:0003358	biolink:NamedThing	anus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the anus|anus leiomyosarcoma|leiomyosarcoma of anus|anal leiomyosarcoma											NCIT:C5599|UMLS:C1332267|DOID:5267																		owl:Class
MONDO:0002432	biolink:NamedThing	malignant neoplasm of acoustic nerve	A malignant neoplasm involving the vestibulocochlear nerve.	mondoexuq1wtf	malignant neoplasm of the eighth cranial nerve|malignant tumor of eighth cranial nerve|malignant tumor of vestibulocochlear nerve|malignant neoplasm of the vestibulocochlear nerve|malignant eighth cranial nerve tumor|malignant tumor of acoustic vestibular nerve|malignant tumour of acoustic vestibular nerve|cancer of the vestibulocochlear nerve|vestibulocochlear nerve cancer|malignant neoplasm of vestibulocochlear nerve|malignant tumor of acoustic nerve|malignant vestibulocochlear nerve tumor|malignant tumor of the acoustic nerve|malignant vestibulocochlear nerve neoplasm|malignant acoustic nerve neoplasm|malignant eighth cranial nerve neoplasm|malignant neoplasm of eighth cranial nerve|malignant tumor of the eighth cranial nerve|malignant tumor of the vestibulocochlear nerve|cancer of vestibulocochlear nerve|malignant acoustic nerve tumor|malignant neoplasm of the acoustic nerve											DOID:2814|NCIT:C4539|UMLS:C0346331|SCTID:254980001|ICD10:C72.4																		owl:Class
MONDO:0002262	biolink:NamedThing	capillary lymphangioma	A lymphangioma that involves the capillary.	mondoexuq1wtf	capillary lymphangioma|cutaneous lymphangioma											SCTID:445492005|DOID:2286																		owl:Class
MONDO:0002037	biolink:NamedThing	pleural disease	A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.	mondoexuq1wtf	pleura disease or disorder|disorder of pleura|pleural disorders|pleura disease|disease or disorder of pleura|pleural disorder|non-neoplastic pleural disease|disease of pleura											SCTID:88075009|UMLS:C0032226|NCIT:C26859|MESH:D010995|DOID:1532|ICD9:518.89																		owl:Class
MONDO:0001345	biolink:NamedThing	antidepressant type abuse	A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.	mondoexuq1wtf												ICD9:305.8|DOID:11718																		owl:Class
MONDO:0017589	biolink:NamedThing	follicular cholangitis and pancreatitis	Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.	mondoexuq1wtf	follicular pancreatocholangitis											Orphanet:300552																		owl:Class
MONDO:0060758	biolink:NamedThing	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		mondoexuq1wtf	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits|SCA42ND											OMIM:618087																		owl:Class
MONDO:0011024	biolink:NamedThing	dermatitis herpetiformis, familial	Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.	mondoexuq1wtf	dermatitis herpetiformis, familial|hereditary dermatitis herpetiformis|DH|Duhring Brocq disease|Duhring's disease|Brocq-Duhring disease											UMLS:C1832586|MESH:C538218|OMIM:601230|GARD:0001917														https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis				owl:Class
MONDO:0019493	biolink:NamedThing	primary adult heart tumor	Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).	mondoexuq1wtf	adult cardiac tumor|adult heart tumor											SCTID:715403006|UMLS:CN206280|ICD10:D15.1|Orphanet:874|UMLS:C4275152|ICD10:C38.0																		owl:Class
MONDO:0015085	biolink:NamedThing	bathing suit ichthyosis	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.	mondoexuq1wtf	BSI											UMLS:C4511230|ICD10:Q80.2|Orphanet:100976|SCTID:725588002																		owl:Class
MONDO:0008690	biolink:NamedThing	xeroderma pigmentosum, autosomal dominant, mild		mondoexuq1wtf	xeroderma pigmentosum, autosomal dominant, mild											MESH:C565989|OMIM:194400|UMLS:C1860231																		owl:Class
MONDO:0008026	biolink:NamedThing	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		mondoexuq1wtf	spinal muscular atrophy, juvenile, proximal, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|Sma-led|SMALED1|Kugelberg-Welander syndrome, autosomal dominant|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures|spinal muscular atrophy, childhood, proximal, autosomal dominant											ICD10:G12.1|Orphanet:209341|UMLS:C1834690|MESH:C563560|OMIM:158600																		owl:Class
MONDO:0016049	biolink:NamedThing	congenital myopathy, Paradas type	Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.	mondoexuq1wtf												Orphanet:199329|ICD10:G71.2																		owl:Class
MONDO:0018193	biolink:NamedThing	testicular teratoma		mondoexuq1wtf	testicular teratoma|teratoma of the testis|testicular teratoma (disease)|teratoma of testis		testicular teratoma (disease)									EFO:1000573|NCIT:C3877|Orphanet:363483|HP:0100616|ICD10:C62.9																		owl:Class
MONDO:0008048	biolink:NamedThing	autosomal dominant centronuclear myopathy	Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	mondoexuq1wtf	myopathy, centronuclear, 1|centronuclear myopathy, autosomal dominant|CNM1|myotubular myopathy, autosomal dominant|AD-CNM|myopathy, centronuclear, type 1|DNM2-related centronuclear myopathy|myopathy, centronuclear, autosomal dominant|centronuclear myopathy 1											GARD:0012719|DOID:0111217|ICD10:G71.2|NCIT:C126689|Orphanet:169189|SCTID:716696006|OMIM:160150|UMLS:C1834558														https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy				owl:Class
MONDO:0014151	biolink:NamedThing	pulmonary hypertension, neonatal, susceptibility to		mondoexuq1wtf	pulmonary hypertension, neonatal, susceptibility to|susceptibility to neonatal pulmonary hypertension|PHN											OMIM:615371																		owl:Class
MONDO:0008896	biolink:NamedThing	campomelia, Cumming type	Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	mondoexuq1wtf	Cumming syndrome|campomelia, Cumming type|cervical lymphocele with bowed long bones|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys|campomelia Cumming type											MESH:C537966|SCTID:720599002|OMIM:211890|Orphanet:1318|GARD:0001061|ICD10:Q87.8|UMLS:C1859371														https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type				owl:Class
MONDO:0024560	biolink:NamedThing	PDA1		mondoexuq1wtf	patent ductus arteriosus 1|PDA|PDA1											OMIM:607411																		owl:Class
MONDO:0012244	biolink:NamedThing	prostate cancer, hereditary, 5		mondoexuq1wtf	prostate cancer, hereditary, type 5|prostate cancer, hereditary, 5|HPC5											UMLS:C1836436|MESH:C563744|OMIM:609299																		owl:Class
MONDO:0033650	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 15		mondoexuq1wtf	MC4DN15											OMIM:619059																		owl:Class
MONDO:0009628	biolink:NamedThing	microcolon	A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.	mondoexuq1wtf	microcolon (disease)|microcolon		microcolon (disease)									MESH:C562563|ICD9:751.5|HP:0004388|SCTID:18389004|NCIT:C98987|OMIM:251400																		owl:Class
MONDO:0003558	biolink:NamedThing	adenosquamous prostate carcinoma	An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.	mondoexuq1wtf	prostate adenosquamous carcinoma|prostate gland adenosquamous carcinoma|adenosquamous carcinoma of the prostate|adenosquamous carcinoma of prostate											DOID:5634|UMLS:C1335503|NCIT:C5538																		owl:Class
MONDO:0000993	biolink:NamedThing	prostate squamous cell carcinoma	An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.	mondoexuq1wtf	prostate squamous cell carcinoma|PRSC|prostate gland squamous cell carcinoma|squamous cell carcinoma of the prostate|squamous cell carcinoma of prostate											DOID:10287|ONCOTREE:PRSC|NCIT:C5536|UMLS:C1302530|SCTID:399590005																		owl:Class
MONDO:0007535	biolink:NamedThing	emphysema, hereditary pulmonary		mondoexuq1wtf	emphysema, hereditary pulmonary											OMIM:130700|MESH:C565057|UMLS:C1851718																		owl:Class
MONDO:0006550	biolink:NamedThing	fibroepithelial polyp of urethra	A benign polypoid lesion of mesodermal origin that arises from the urethra.	mondoexuq1wtf	urethra skin tag|urethra fibroepithelial polyp|fibroepithelial polyp of urethra|skin tag of urethra|urethral fibroepithelial polyp|fibroepithelial polyp of the urethra											EFO:1000700|UMLS:C1336884|DOID:8108|NCIT:C6170																		owl:Class
MONDO:0010230	biolink:NamedThing	intellectual disability, X-linked 23		mondoexuq1wtf	MRX23|mental retardation, X-linked 23|intellectual disability, X-linked 23											MESH:C563144|OMIM:300046|UMLS:C0796229																		owl:Class
MONDO:0005465	biolink:NamedThing	methamphetamine-induced psychosis	Abnormal mental state resulting from an abuse of methamphetamine	mondoexuq1wtf												EFO:0005242																		owl:Class
MONDO:0044782	biolink:NamedThing	esophageal ulcer	An ulcerated lesion in the esophageal wall.	mondoexuq1wtf	esophagus ulcer|esophageal ulcer|esophagus ulcer disease|ulcer disease of esophagus											NCIT:C26950|HP:0004791																		owl:Class
MONDO:0043839	biolink:NamedThing	ulcer disease	A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.	mondoexuq1wtf	ulcers|ulcer|ulcerated|ulceration|ulcerative											MESH:D014456|SCTID:429040005|UMLS:C0041582|NCIT:C3426																		owl:Class
MONDO:0009280	biolink:NamedThing	monosodium glutamate sensitivity		mondoexuq1wtf	monosodium glutamate sensitivity|Chinese restaurant syndrome											SCTID:56344009|OMIM:231630|ICD9:989.89|UMLS:C0008127|MESH:C562377																		owl:Class
MONDO:0020390	biolink:NamedThing	pulmonary artery coming from patent ductus arteriosus		mondoexuq1wtf												ICD10:Q25.7|Orphanet:99049																		owl:Class
MONDO:0013943	biolink:NamedThing	peroxisome biogenesis disorder 8B		mondoexuq1wtf	peroxisome biogenesis disorder 8B|peroxisome biogenesis disorder type 8B|PBD8B											UMLS:C3553960|OMIM:614877														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0011375	biolink:NamedThing	brittle bone disorder		mondoexuq1wtf	brittle bone disorder											UMLS:C1859069|MESH:C565842|OMIM:603828																		owl:Class
MONDO:0004316	biolink:NamedThing	acantholytic squamous cell skin carcinoma	A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.	mondoexuq1wtf	acantholytic squamous cell carcinoma of skin|acantholytic squamous cell carcinoma of the skin|acantholytic squamous cell skin carcinoma											SCTID:254654004|NCIT:C4460|UMLS:C0345979|DOID:7643																		owl:Class
MONDO:0011052	biolink:NamedThing	amelia cleft lip palate hydrocephalus iris coloboma		mondoexuq1wtf	bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects, and Facial clefts|brachial AMELIA, cleft LIP, and holoprosencephaly|ACLH|amelia cleft lip palate hydrocephalus iris coloboma|brachial amelia, forebrain defects and facial clefts											MESH:C536713|GARD:0000388|GARD:0000641|OMIM:601357|UMLS:C1832434														https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma				owl:Class
MONDO:0007785	biolink:NamedThing	hyperthyroxinemia, dystransthyretinemic		mondoexuq1wtf	DTTRH|hyperthyroxinemia, dystransthyretinemic|hyperthyroxinemia, Dysprealbuminemic|Euthryroidal hyperthyroxinemia 2|dystransthyretinemic Euthyroidal hyperthyroxinemia|dystransthyretinemic hyperthyroxinemia											UMLS:C2750824|DOID:0080219|MESH:C567719|OMIM:145680																		owl:Class
MONDO:0007293	biolink:NamedThing	leukocyte adhesion deficiency 1	Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.	mondoexuq1wtf	leukocyte adhesion deficiency caused by mutation in ITGB2|LAD1|leukocyte adhesion deficiency type 1|LFA 1 immunodeficiency|leukocyte adhesion deficiency type I|leukocyte adhesion deficiency, type 1|ITGB2 leukocyte adhesion deficiency|Lfa1 immunodeficiency|LFA-I deficiency|lad|lad-type I|LFA1 immunodeficiency|Lad1|lymphocyte function-associated antigen 1 immunodeficiency|lad-I|lad 1|leukocyte adhesion deficiency, type I											Orphanet:99842|ICD10:D84.8|SCTID:234582006|UMLS:C0398738|OMIM:116920|MESH:C535887|DOID:0110910|NCIT:C4689|GARD:0006893																		owl:Class
MONDO:0017570	biolink:NamedThing	leukocyte adhesion deficiency	Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.	mondoexuq1wtf	congenital leukocyte adherence deficiency|LAD											UMLS:C0272187|DOID:6612|NCIT:C27874|GARD:0009544|Orphanet:2968|ICD10:D84.8|SCTID:77358003																		owl:Class
MONDO:0001925	biolink:NamedThing	retinal dystrophy in systemic or cerebroretinal lipidoses		mondoexuq1wtf												ICD9:362.71|DOID:14253																		owl:Class
MONDO:0001538	biolink:NamedThing	retinal ischemia	A ischemic disease that involves the retina.	mondoexuq1wtf	ischemic disease of retina|retina ischemic disease											SCTID:26468004|ICD9:362.84|COHD:378142|DOID:12510|ICD10:H35.82|UMLS:C0162291																		owl:Class
MONDO:0004821	biolink:NamedThing	nasopharyngeal disease	A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.	mondoexuq1wtf	disease of nasopharynx|disorder of nasopharynx|disease or disorder of nasopharynx|nasopharyngeal disorder|nasopharynx disease or disorder|disorder of postnasal space|nasopharynx disease											NCIT:C35723|SCTID:123952009|UMLS:C0027438|DOID:9561|MESH:D009302																		owl:Class
MONDO:0010564	biolink:NamedThing	red-green color blindness	Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.	mondoexuq1wtf	colorblindness, partial, DEUTAN series|CBD|reduced red-green discrimination|Deutan defect|Green colorblindness|deuteranopia|Deutan colorblindness|Deuteranomaly											ICD9:368.52|EFO:0005581|UMLS:C0155016|DOID:13909|ICD10:H53.53|SCTID:77479002|OMIM:303800																		owl:Class
MONDO:0000014	biolink:NamedThing	colorblindness, partial		mondoexuq1wtf												DC:0000090																		owl:Class
MONDO:0008094	biolink:NamedThing	familial multiple nevi flammei	A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.	mondoexuq1wtf	port wine stain|CMC|Nevus flammeus|capillary malformations|Salmon patch Nevus|familial multiple port-wine stains|port wine stain of the skin|port-wine stain|port wine type hemangioma|nevi flammei, familial multiple|port-wine stain familial multiple|port wine stain of skin|port wine Nevus|capillary malformations, congenital|port-wine stain of skin|port wine birthmark											GARD:0003986|NCIT:C3840|DOID:0111529|UMLS:C0235752|SCTID:416377005|OMIM:163000|ICD10:Q82.5|Orphanet:624|UMLS:CN205384|MedDRA:10067193																		owl:Class
MONDO:0008236	biolink:NamedThing	phlebectasia of lips		mondoexuq1wtf	phlebectasia of lips											MESH:C566806|OMIM:171450|UMLS:C1868391																		owl:Class
MONDO:0019921	biolink:NamedThing	paternal uniparental disomy of chromosome 6	Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	mondoexuq1wtf	UPD(6)pat|paternal uniparental disomy of chromosome type 6											ICD10:Q99.8|Orphanet:96191																		owl:Class
MONDO:0012690	biolink:NamedThing	Noonan syndrome 5	Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.	mondoexuq1wtf	Noonan syndrome 5|NS5|RAF1 Noonan syndrome|Noonan syndrome type 5|RAF1 gene related Noonan syndrome|Noonan syndrome caused by mutation in RAF1											MESH:C548083|DOID:0060583|GARD:0010700|UMLS:C1969057|OMIM:611553														https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5				owl:Class
MONDO:0009921	biolink:NamedThing	holoprosencephaly-postaxial polydactyly syndrome	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	mondoexuq1wtf	pseudo-trisomy 13 syndrome|holoprosencephaly-polydactyly syndrome|Young-Maders syndrome|PSEUDOTRISOMY 13 syndrome|pseudo trisomy 13 syndrome|holoprosencephaly polydactyly syndrome											UMLS:C1849649|OMIM:264480|ICD10:Q87.8|Orphanet:2166|SCTID:716091000|MESH:C535829|NCIT:C125418|GARD:0000344																		owl:Class
MONDO:0009101	biolink:NamedThing	Wolfram syndrome 1	Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.	mondoexuq1wtf	Wolfram syndrome 1|Wfs|diabetes insipidus and mellitus with optic atrophy and deafness|Wolfram syndrome type 1|WOLFRAM syndrome 1|Wolfram syndrome caused by mutation in WFS1|WFS1 Wolfram syndrome|WFS1											OMIM:222300|ICD10:E13.8|DOID:0110629																		owl:Class
MONDO:0008305	biolink:NamedThing	Currarino triad	Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).	mondoexuq1wtf	Currarino syndrome|Scra1|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|CURRARINO syndrome|Currarino triad|sacral agenesis syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation											GARD:0001626|MESH:C536221|Orphanet:1552|OMIM:176450|ICD10:Q87.8|SCTID:413936007|UMLS:C1531773|DOID:0111546|ICD9:759.89																		owl:Class
MONDO:0015038	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type E	Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.	mondoexuq1wtf												UMLS:CN228904|ICD10:Q04.3|Orphanet:100015																		owl:Class
MONDO:0011605	biolink:NamedThing	generalized basaloid follicular hamartoma syndrome	Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	mondoexuq1wtf	basaloid follicular hamartoma syndrome, generalized, autosomal dominant|GBFHS											UMLS:C1853919|OMIM:605827|Orphanet:168632|ICD10:Q82.5|SCTID:766928004|MESH:C565284																		owl:Class
MONDO:0012265	biolink:NamedThing	preeclampsia/eclampsia 3		mondoexuq1wtf	PEE3|PREECLAMPSIA/eclampsia 3											UMLS:C1836256|OMIM:609403																		owl:Class
MONDO:0003367	biolink:NamedThing	gastric leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	stomach leiomyosarcoma|gastric leiomyosarcoma|leiomyosarcoma of stomach|gastric leiomyosarcoma (disease)		gastric leiomyosarcoma (disease)									NCIT:C27200|SCTID:447785000|DOID:5280|HP:0031025|UMLS:C0744295																		owl:Class
MONDO:0006540	biolink:NamedThing	dyshidrosis	A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)	mondoexuq1wtf	dyshidrosis|DYSHYDROTIC eczema|vesicular eczema of hands and/or feet|pompholyx|cheiropompholyx											SCTID:402567004|Wikipedia:Dyshidrosis|ICD9:692.9|MESH:D011146|COHD:133551|EFO:1000688|DOID:9230|ICD9:705.81|UMLS:C0032633																		owl:Class
MONDO:0006615	biolink:NamedThing	sweat gland disease	A disease involving the sweat gland.	mondoexuq1wtf	disorder of sweat gland|disease of sweat gland|disease or disorder of sweat gland|disease of sweat glands|sweat gland disease or disorder|sweat gland disease|disorder of sweat glands											MESH:D013543|DOID:1383|ICD9:705|ICD9:705.89|ICD10:L74|SCTID:88232005|ICD10:L74.9|UMLS:C0038986|ICD9:705.9|EFO:1000772																		owl:Class
MONDO:0011034	biolink:NamedThing	odontomicronychial dysplasia	Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.	mondoexuq1wtf	ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia|odontomicronychial dysplasia											UMLS:C1832473|Orphanet:1811|OMIM:601319|MESH:C537741|GARD:0004053														https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia				owl:Class
MONDO:0010684	biolink:NamedThing	X-linked myopathy with excessive autophagy	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	mondoexuq1wtf	vacuolar myopathy|XMEA|MEAX|myopathy, X-linked, with excessive autophagy											OMIM:310440|SCTID:719815005|ICD10:G71.8|Orphanet:25980|DOID:0050760|UMLS:C1839615|MESH:C536522|GARD:0003892|UMLS:C2931230														https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy				owl:Class
MONDO:0019843	biolink:NamedThing	pituitary hormone deficiency secondary to a granulomatous disease		mondoexuq1wtf												Orphanet:95617|UMLS:CN206787																		owl:Class
MONDO:0010151	biolink:NamedThing	tricarboxylic acid cycle, defect of		mondoexuq1wtf	tricarboxylic acid cycle, defect of											UMLS:C1848746|OMIM:275370|MESH:C564762																		owl:Class
MONDO:0012395	biolink:NamedThing	cataract 18	Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.	mondoexuq1wtf	cataract (disease) caused by mutation in FYCO1|autosomal recessive congenital cataract 2|FYCO1 cataract (disease)|CATC2|CTRCT18|cataract 18|cataract, autosomal recessive congenital 2|cataract type 18|cataract 18 autosomal recessive											OMIM:610019|GARD:0009892|ICD10:Q12.0|DOID:0110238|MESH:C535337																		owl:Class
MONDO:0010256	biolink:NamedThing	intellectual disability, X-linked 21	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.	mondoexuq1wtf	intellectual disability, X-linked type 21|mental retardation, X-linked 21|IL1RAPL1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 21|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|mental retardation, X-linked type 21|MRX21|mental retardation, X-linked 34|intellectual disability, X-linked 34											OMIM:300143																		owl:Class
MONDO:0012400	biolink:NamedThing	cortical dysplasia-focal epilepsy syndrome	An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.	mondoexuq1wtf	Pitt-Hopkins-like syndrome 1|CDFE syndrome|CDFES|cortical dysplasia-focal epilepsy syndrome|PTHSL1											UMLS:C1864887|ICD10:Q04.8|Orphanet:163681|NCIT:C133743|DOID:0090130|OMIM:610042																		owl:Class
MONDO:0013105	biolink:NamedThing	basal cell carcinoma, susceptibility to, 5		mondoexuq1wtf	BCC5|basal cell carcinoma, susceptibility to, 5											OMIM:613062|UMLS:C2751601																		owl:Class
MONDO:0017228	biolink:NamedThing	autoimmune pancreatitis type 2	Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.	mondoexuq1wtf	duct-centric pancreatitis|AIP type 2											ICD10:K86.1|Orphanet:280315|UMLS:CN202713																		owl:Class
MONDO:0015175	biolink:NamedThing	autoimmune pancreatitis	Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.	mondoexuq1wtf	AIP|lymphoplasmocytic sclerosing pancreatitis											SCTID:448542008|Orphanet:103919|UMLS:C2609129|DOID:0040091|MedDRA:10069002|ICD10:K86.1|GARD:0010911																		owl:Class
MONDO:0001875	biolink:NamedThing	epicondylitis	Inflammation of the lateral epicondyle.	mondoexuq1wtf	medial epicondylitis|archer's elbow|inflammation of ectepicondyle of humerus|hockey elbow|golfer's elbow|ectepicondyle of humerus inflammation|andrel epicondylitis|tennis elbow|lateral epicondylitis|shooter's elbow											DOID:14087|SCTID:202855006|MESH:D013716|ICD10:M77.1|UMLS:C0014488|ICD9:726.32|NCIT:C34589																		owl:Class
MONDO:0012426	biolink:NamedThing	immunodeficiency 25	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.	mondoexuq1wtf	CD247 severe combined immunodeficiency (disease)|severe combined immunodeficiency (disease) caused by mutation in CD247|immunodeficiency type 25|IMD25|immunodeficiency 25|CD3zeta deficiency|immunodeficiency due to defect in CD3-zeta											UMLS:C1857798|OMIM:610163|MESH:C565712|DOID:0060007																		owl:Class
MONDO:0013409	biolink:NamedThing	age related macular degeneration 5	Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.	mondoexuq1wtf	macular degeneration, age-related, 5|ERCC6 age-related macular degeneration|macular Degeneration, age-related, type 5|ARMD5|age related macular degeneration type 5|age-related macular degeneration caused by mutation in ERCC6											DOID:0110028|UMLS:C3151063|OMIM:613761																		owl:Class
MONDO:0018487	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency		mondoexuq1wtf												Orphanet:420699|ICD10:D70																		owl:Class
MONDO:0020110	biolink:NamedThing	pulmonary agenesis	An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.	mondoexuq1wtf	congenital absence of lung|unilateral lobar pulmonary agenesis|congenital lung agenesis|unilateral lung agenesis											UMLS:C0265780|ICD10:Q33.3|GARD:0009119|ICD9:748.5|MedDRA:10037322|Orphanet:984|NCIT:C99028|SCTID:66489009																		owl:Class
MONDO:0060745	biolink:NamedThing	intellectual developmental disorder with or without epilepsy or cerebellar ataxia		mondoexuq1wtf	IDDECA|intellectual developmental disorder with or without epilepsy or cerebellar ataxia											OMIM:618060|UMLS:CN252646																		owl:Class
MONDO:0004777	biolink:NamedThing	acute laryngitis	An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	mondoexuq1wtf	laryngitis|laryngitis, acute											NCIT:C26688|COHD:30133|ICD9:464.01|UMLS:C0001327|SCTID:6655004|ICD9:464.0|ICD10:J04.0|DOID:9396|ICD9:464.00																		owl:Class
MONDO:0016099	biolink:NamedThing	overlap myositis	Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.	mondoexuq1wtf	non-specific myositis|adult-onset overlap myositis											Orphanet:206572																		owl:Class
MONDO:0008734	biolink:NamedThing	adrenocortical carcinoma, hereditary	An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary adrenal cortex carcinoma|ADCC|adrenocortical carcinoma, hereditary|adrenocortical carcinoma, pediatric											UMLS:C1859972|OMIM:202300																		owl:Class
MONDO:0023099	biolink:NamedThing	FRAXD syndrome		mondoexuq1wtf	FRAXD											GARD:0002377														https://rarediseases.info.nih.gov/diseases/2377/fraxd				owl:Class
MONDO:0016207	biolink:NamedThing	phacoanaphylactic uveitis	Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.	mondoexuq1wtf	Phacoallergic endophthalmitis|Phacoantigenic endophthalmitis|endophthalmitis phacoanaphylactica|Phako-anaphylactic endophthalmitis|lens-induced uveitis|lens-induced endophthalmitis|lens-induced iridocyclitis											ICD10:H20.2|Orphanet:209959|SCTID:410494003|UMLS:C1444621																		owl:Class
MONDO:0009349	biolink:NamedThing	holoprosencephaly 1	The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.	mondoexuq1wtf	arhinencephaly|holoprosencephaly 1|holoprosencephaly, familial Alobar|Hpe, familial|isolated arhinencephaly|holoprosencephaly type 1|cyclopia|Demyer sequence|HPE1											ICD10:Q04.1|NCIT:C75476|OMIM:236100|Orphanet:268936|DOID:0110881																		owl:Class
MONDO:0009171	biolink:NamedThing	endothelial dystrophy, congenital hereditary, with nail hypoplasia		mondoexuq1wtf	endothelial dystrophy, congenital hereditary, with nail hypoplasia											MESH:C565591|OMIM:226110|UMLS:C1856970																		owl:Class
MONDO:0002267	biolink:NamedThing	obstructive lung disease	Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.	mondoexuq1wtf	respiratory airway obstruction											DOID:2320|MESH:D008173|UMLS:C0600260																		owl:Class
MONDO:0000509	biolink:NamedThing	non-syndromic intellectual disability	An intellectual disability that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic intellectual disability|isolated intellectual disability											DOID:0050889																		owl:Class
MONDO:0013372	biolink:NamedThing	long QT syndrome 5	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	mondoexuq1wtf	long QT syndrome 5, acquired, susceptibility to|long QT syndrome type 5|KCNE1 long QT syndrome|long QT syndrome caused by mutation in KCNE1|LQT5|long QT syndrome 2/5, digenic|long QT syndrome 5											ICD10:I45.8|GARD:0010433|UMLS:C1867904|DOID:0110647|MESH:C566766|HGNC:6240|OMIM:613695														https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5				owl:Class
MONDO:0015808	biolink:NamedThing	folliculotropic mycosis fungoides	Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.	mondoexuq1wtf	folliculotropic mycosis fungoides|follicular mycosis fungoides|alopecia mucinosa (t cell lymphoma)|follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis											ICD10:C84.0|ICD9:701.8|SCTID:404109006|UMLS:C1627767|Orphanet:178512|NCIT:C35685																		owl:Class
MONDO:0011041	biolink:NamedThing	ectodermal dysplasia with natal teeth, Turnpenny type	Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.	mondoexuq1wtf	ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia with natal teeth, Turnpenny type|ectodermal dysplasia, hair/Tooth type											Orphanet:69083|OMIM:601345|UMLS:C1832444|GARD:0010526|SCTID:715576000|MESH:C563347														https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type				owl:Class
MONDO:0013041	biolink:NamedThing	atypical hemolytic-uremic syndrome with I factor anomaly		mondoexuq1wtf	hemolytic-uremic syndrome without diarrhea with I factor anomaly|susceptibility to atypical hemolytic uremic syndrome 3|hemolytic uremic syndrome, atypical, susceptibility to, type 3|aHUS3|aHUS, susceptibility to, 3|atypical HUS with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 3|aHUS with I factor anomaly|D-HUS with I factor anomaly|AHUS3											OMIM:612923|ICD10:D58.8|Orphanet:93580																		owl:Class
MONDO:0003836	biolink:NamedThing	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.	mondoexuq1wtf	malignant thyroid stimulating hormone producing tumor of pituitary|malignant TSH secreting neoplasm of pituitary gland|malignant TSH secreting neoplasm of the pituitary gland|malignant TSH producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor|malignant pituitary thyrotropinoma|malignant thyroid stimulating hormone producing tumor of pituitary gland|malignant TSH secreting tumor of the pituitary|malignant TSH producing tumor of pituitary gland|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyrotropinoma of the pituitary|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant thyrotropinoma of pituitary|malignant thyrotropinoma|malignant TSH secreting pituitary gland neoplasm|malignant thyrotropinoma of the pituitary gland|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant TSH secreting neoplasm of pituitary|malignant TSH secreting pituitary tumor|thyrotropin producing pituitary gland carcinoma|malignant thyrotropinoma of pituitary gland|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting tumor of the pituitary|malignant pituitary gland thyrotropinoma|malignant TSH secreting tumor of pituitary|malignant TSH producing pituitary neoplasm|malignant TSH secreting neoplasm of the pituitary|malignant TSH producing neoplasm of the pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing pituitary gland neoplasm|malignant TSH producing tumor of the pituitary gland|TSH producing pituitary gland carcinoma|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH secreting tumor of the pituitary gland|malignant thyroid stimulating hormone secreting pituitary tumor|malignant TSH producing tumor of the pituitary|malignant TSH producing pituitary gland tumor|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant TSH producing pituitary tumor|malignant TSH secreting pituitary neoplasm|malignant TSH secreting tumor of pituitary gland|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing pituitary tumor|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant TSH producing neoplasm of pituitary gland|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary|TSH-producing pituitary gland carcinoma|malignant thyroid stimulating hormone secreting pituitary gland tumor											NCIT:C5965|DOID:6274|UMLS:C1334627																		owl:Class
MONDO:0044314	biolink:NamedThing	retinitis pigmentosa 78		mondoexuq1wtf	RP78|retinitis pigmentosa 78											OMIM:617433|UMLS:C4479481																		owl:Class
MONDO:0008977	biolink:NamedThing	chondrosarcoma	A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.	mondoexuq1wtf	chondrosarcoma of bone|chondrosarcoma (disease)|chondrosarcoma, malignant|chondrosarcoma|primary chondrosarcoma of the bone		chondrosarcoma (disease)									MedDRA:10008734|ICD9:170.9|GARD:0006055|OMIM:215300|SCTID:443520009|ONCOTREE:CHS|UMLS:C0008479|DOID:3371|ICDO:9220/3|ICD10:C49.9|Orphanet:55880|EFO:0000333|NCIT:C2946|MESH:D002813|HP:0006765																		owl:Class
MONDO:0013161	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2O	Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	mondoexuq1wtf	LGMD-POMGNT1 related|MDDGC3|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|LGMD2O|limb-girdle muscular dystrophy type 2O|POMGNT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|muscular dystrophy, limb-girdle, type 2O|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related											UMLS:C3150417|Orphanet:206564|OMIM:613157|DOID:0110292|GARD:0012540|ICD10:G71.0																		owl:Class
MONDO:0012707	biolink:NamedThing	familial febrile seizures 9		mondoexuq1wtf	febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9											MESH:C566901|OMIM:611634|UMLS:C1968846|DOID:0111303																		owl:Class
MONDO:0004190	biolink:NamedThing	nephrogenic adenoma of urinary bladder	A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	mondoexuq1wtf	urinary bladder nephrogenic adenoma|nephrogenic adenoma of the urinary bladder											NCIT:C7415|UMLS:C1336892|DOID:7333																		owl:Class
MONDO:0004191	biolink:NamedThing	nephrogenic adenoma	So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.	mondoexuq1wtf	nephrogenic adenoma											NCIT:C7413|DOID:7334|UMLS:C0334039																		owl:Class
MONDO:0008976	biolink:NamedThing	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome		mondoexuq1wtf	chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome											OMIM:215250|MESH:C565852|UMLS:C1859104																		owl:Class
MONDO:0033559	biolink:NamedThing	intellectual developmental disorder with seizures and language delay		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY|IDDSELD											OMIM:619000																		owl:Class
MONDO:0024339	biolink:NamedThing	lymph node neoplasm	A neoplasm involving a lymph node.	mondoexuq1wtf	lymph node neoplasm (disease)|neoplasm of lymph node|lymph node tumor|lymph node neoplasm|tumor of lymph node											NCIT:C35497|GARD:0006932																		owl:Class
MONDO:0005962	biolink:NamedThing	skeletal tuberculosis	Tuberculosis of the bones or joints.	mondoexuq1wtf	osteoarticular tuberculosis											EFO:0007487|SCTID:17653001|MESH:D014394|ICD9:015.9|ICD10:A18.0|ICD9:015|DOID:1639|UMLS:C0041324																		owl:Class
MONDO:0014107	biolink:NamedThing	hypogonadotropic hypogonadism 21 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 21 with or without anosmia|FLRT3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in FLRT3|HH21											ICD10:E23.0|UMLS:C3808986|OMIM:615271|DOID:0090093																		owl:Class
MONDO:0013157	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5		mondoexuq1wtf	Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related|MDDGA5|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|muscle-eye-brain-FKRP related											UMLS:C3150413|DOID:0111241|OMIM:613153																		owl:Class
MONDO:0011594	biolink:NamedThing	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis		mondoexuq1wtf	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis|gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis											UMLS:C3148970|OMIM:605756																		owl:Class
MONDO:0006581	biolink:NamedThing	miliaria rubra	Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).	mondoexuq1wtf	miliaria crystallina|sudamina|prickly heat - miliaria											EFO:1000735|ICD10:L74.0|UMLS:C3241961|DOID:11153|ICD9:705.1|ICD10:L74.2|SCTID:44279002|UMLS:C0162423																		owl:Class
MONDO:0006941	biolink:NamedThing	rat-bite fever	An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.	mondoexuq1wtf	rat bite fever|spirillosis|Streptobacillosis											GARD:0009557|Orphanet:31205|ICD9:026.9|ICD10:A25.0|EFO:1001144|ICD10:A25.1|SCTID:1685005|COHD:433690|UMLS:C0034686|ICD10:A25.9|MedDRA:10037904|NCIT:C34971|MESH:D011906														https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever				owl:Class
MONDO:0007527	biolink:NamedThing	Ehlers-Danlos syndrome, periodontitis type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.	mondoexuq1wtf	Ehlers-Danlos syndrome, periodontosis type|pEDS|Ehlers-Danlos syndrome, type 8|periodontal Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VIII (formerly)|EDS8|Ehlers-Danlos syndrome, type VIII|Ehlers-Danlos syndrome type 8|EDS 8|periodontal EDS|EDS VIII (formerly)|Ehlers-Danlos syndrome type 8 (formerly)|EDS VIII|Ehlers-Danlos syndrome, periodontitis type|EDS8 (formerly)											SCTID:50869007|MESH:C562626|GARD:0012474|Orphanet:75392|ICD10:Q79.6																		owl:Class
MONDO:0017049	biolink:NamedThing	hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	mondoexuq1wtf	Boylan-dew syndrome											Orphanet:2680|UMLS:CN202399																		owl:Class
MONDO:0007230	biolink:NamedThing	Brachymorphism-onychodysplasia-dysphalangism syndrome	Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	mondoexuq1wtf	Senior syndrome|Brachymorphism onychodysplasia dysphalangism syndrome|bod syndrome|Brachymorphism-onychodysplasia-dysphalangism syndrome											UMLS:C1862082|MESH:C536242|Orphanet:1292|ICD10:Q87.1|GARD:0000918|OMIM:113477|SCTID:720573009																		owl:Class
MONDO:0009846	biolink:NamedThing	pentosuria	Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.	mondoexuq1wtf	L-xylulose reductase deficiency|xylitol dehydrogenase deficiency|essential pentosuria|L-Xylulosuria|pentosuria|PNTSU											MESH:C536652|ICD9:271.8|ICD10:E74.8|GARD:0000418|SCTID:190764000|Orphanet:2843|UMLS:C0268162|DOID:0111258|MedDRA:10064170|OMIM:260800														https://rarediseases.info.nih.gov/diseases/418/pentosuria				owl:Class
MONDO:0018899	biolink:NamedThing	posterior cortical atrophy	Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.	mondoexuq1wtf	Benson syndrome|PCA|biparietal Alzheimer disease											SCTID:715574002|Orphanet:54247|ICD10:G31.1|UMLS:CN205270																		owl:Class
MONDO:0054837	biolink:NamedThing	intellectual disability, autosomal dominant 57		mondoexuq1wtf	mental retardation, autosomal dominant 57|MRD57|intellectual disability, autosomal dominant 57											UMLS:CN252334|OMIM:618050																		owl:Class
MONDO:0012630	biolink:NamedThing	Alzheimer disease 13	An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.	mondoexuq1wtf	Alzheimer's disease 13|Alzheimer disease 13|Alzheimer's disease type 13|AD13											MESH:C567000|OMIM:611152|ICD10:G30|DOID:0110046|UMLS:C1970147																		owl:Class
MONDO:0002143	biolink:NamedThing	vaginal yolk sac tumor	A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.	mondoexuq1wtf	vaginal yolk Sac tumor|yolk sac tumor|vaginal endodermal sinus neoplasm|vaginal yolk Sac neoplasm|vaginal endodermal sinus tumor											ONCOTREE:VYST|NCIT:C6379|DOID:1910|UMLS:C1336945																		owl:Class
MONDO:0005008	biolink:NamedThing	colorectal adenocarcinoma	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	mondoexuq1wtf	adenocarcinoma of large intestine|adenocarcinoma of the large bowel|adenocarcinoma of large bowel|colorectum adenocarcinoma|adenocarcinoma of the large intestine|large bowel adenocarcinoma|colorectal adenocarcinoma|large intestine adenocarcinoma|colorectal (colon or rectal) adenocarcinoma					Editor note: we follow NCIT in treating colorectal and large intestine as equivalent					MONDO:0000528	DOID:0050861|EFO:0000365|ONCOTREE:COADREAD|SCTID:408645001|UMLS:C1319315|NCIT:C5105|DOID:0050913																		owl:Class
MONDO:0045042	biolink:NamedThing	restricted to specific location		mondoexuq1wtf	localized																													owl:Class
MONDO:0045040	biolink:NamedThing	locational disease characteristic		mondoexuq1wtf																														owl:Class
MONDO:0014345	biolink:NamedThing	retinitis pigmentosa 69	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.	mondoexuq1wtf	RP69|retinitis pigmentosa type 69|KIZ retinitis pigmentosa|retinitis pigmentosa caused by mutation in KIZ|retinitis pigmentosa 69											DOID:0110410|ICD10:H35.5|OMIM:615780|UMLS:C4014312																		owl:Class
MONDO:0012357	biolink:NamedThing	glaucoma 1, open angle, G	Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene.	mondoexuq1wtf	GLC1G|glaucoma 1, open angle, type G|open-angle glaucoma caused by mutation in WDR36|WDR36 open-angle glaucoma|glaucoma 1, open angle, G											MESH:C563692|OMIM:609887|UMLS:C1835933																		owl:Class
MONDO:0003679	biolink:NamedThing	anteroseptal myocardial infarction		mondoexuq1wtf												UMLS:C0262565|DOID:5855																		owl:Class
MONDO:0009091	biolink:NamedThing	non-acquired combined pituitary hormone deficiency with spine abnormalities	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	mondoexuq1wtf	Deafness, sensorineural with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, type 3|CPHD3|Pituitary hormone deficiency, combined with rigid cervical spine|pituitary hormone deficiency, combined, with rigid cervical spine|deafness, sensorineural, with pituitary dwarfism|Winkelmann-Bethge-Pfeiffer syndrome|pituitary hormone deficiency, combined, 3											UMLS:C3489787|MESH:C536710|GARD:0010603|OMIM:221750|Orphanet:231720																		owl:Class
MONDO:0009218	biolink:NamedThing	Farber lipogranulomatosis	Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.	mondoexuq1wtf	AC deficiency|Farber disease|acid ceramidase deficiency|Farber lipogranulomatosis|ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|N-Laurylsphingosine deacylase deficiency|FRBRL|Farber's disease											GARD:0006426|NCIT:C84710|Orphanet:333|UMLS:CN204335|OMIM:228000|MESH:D055577|SCTID:79935000|UMLS:C0268255|ICD10:E75.2|DOID:0050464|ICD9:272.8																		owl:Class
MONDO:0002559	biolink:NamedThing	plexiform schwannoma	A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.	mondoexuq1wtf	plexiform neurilemmoma|plexiform neurinoma|plexiform schwannoma (morphologic abnormality)|plexiform schwannoma											DOID:3206|UMLS:C1370659|NCIT:C6969|SCTID:404025004|ICD9:215.9																		owl:Class
MONDO:0013468	biolink:NamedThing	retinitis pigmentosa 59	Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.	mondoexuq1wtf	congenital disorder of glycosylation, type Ibb|DHDDS retinitis pigmentosa|RP59|retinitis pigmentosa caused by mutation in DHDDS|retinitis pigmentosa 59|retinitis pigmentosa type 59											UMLS:C3151227|OMIM:613861|DOID:0110352|ICD10:H35.5																		owl:Class
MONDO:0100384	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23;p13.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)	mondoexuq1wtf	AML, t(11;19)(q23;p13.1)																													owl:Class
MONDO:0100255	biolink:NamedThing	adenosine kinase deficiency	A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	mondoexuq1wtf	MRT8|hypermethioninemia encephalopathy due to adenosine kinase deficiency|hypermethioninemia encephalopathy due to ADK deficiency|adenosine kinase deficiency|ADK hypermethioninemia|mental retardation, autosomal recessive 8|hypermethioninemia due to adenosine kinase deficiency|ADK deficiency|autosomal recessive intellectual disability 8|autosomal recessive mental retardation 8|mental retardation, autosomal recessive 8; MRT8|mental retardation, autosomal recessive 8, formerly							http://orcid.org/0000-0001-5208-3432				Orphanet:289290|OMIM:611094|ICD10:E72.1|MESH:C567015|OMIM:614300|UMLS:C3280381|UMLS:C1970196|DOID:0111038														https://github.com/monarch-initiative/mondo/issues/2587				owl:Class
MONDO:0005771	biolink:NamedThing	geographic tongue	A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.	mondoexuq1wtf	benign migratory glossitis|Pityriasis linguae|glossitis areata exfoliativa											ICD9:529.1|NCIT:C84588|ICD10:K14.1|SCTID:59032001|DOID:1455|UMLS:C0017677|EFO:0007283|COHD:441333																		owl:Class
MONDO:0019791	biolink:NamedThing	recessive mitochondrial ataxia syndrome		mondoexuq1wtf	MIRAS											ICD10:G11.8|UMLS:CN206743|Orphanet:94125|EFO:0008816																		owl:Class
MONDO:0012488	biolink:NamedThing	hepatitis B virus, susceptibility to		mondoexuq1wtf	hepatitis b virus, susceptibility to|HBV, resistance to|HBV, susceptibility to|Hepatitis B Virus, resistance to											OMIM:610424|UMLS:C3552304																		owl:Class
MONDO:0001547	biolink:NamedThing	atrophic nonflaccid tympanic membrane		mondoexuq1wtf												ICD9:384.82|UMLS:C0155471|SCTID:72052003|COHD:374050|DOID:12546|ICD10:H73.82																		owl:Class
MONDO:0009095	biolink:NamedThing	dermatoosteolysis, Kirghizian type	Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.	mondoexuq1wtf	Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|Dermatoosteolysis Kirghizian type											SCTID:721090002|GARD:0001814|Orphanet:1657|OMIM:221810|MESH:C535373|UMLS:C1857301														https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type				owl:Class
MONDO:0006896	biolink:NamedThing	peptic esophagitis	Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.	mondoexuq1wtf	reflux oesophagitis|peptic esophagitis|peptic reflux disease|reflux esophagitis											DOID:13976|MESH:D004942|ICD9:530.11|EFO:1001095|SCTID:57643001|UMLS:C0014869																		owl:Class
MONDO:0010435	biolink:NamedThing	nystagmus 6, congenital, X-linked		mondoexuq1wtf	NYS6|nystagmus 6, congenital, X-linked|NYSTAGMUS 6, congenital, X-linked											OMIM:300814|UMLS:C3151752																		owl:Class
MONDO:0009826	biolink:NamedThing	PA polymorphism of alpha-2-globulin		mondoexuq1wtf	PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa											OMIM:260100																		owl:Class
MONDO:0018180	biolink:NamedThing	staphylococcal scarlet fever		mondoexuq1wtf												Orphanet:36235|ICD10:A38|UMLS:CN204670																		owl:Class
MONDO:0007126	biolink:NamedThing	spondyloarthropathy, susceptibility to, 1	Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.	mondoexuq1wtf	ankylosing spondylitis, susceptibility to|SPDA1|spondyloarthropathy, susceptibility to, 1|HLA-B spondyloarthropathy, susceptibility to|Bechterew syndrome|Marie-Strumpell spondylitis|spondyloarthropathy, susceptibility to, type 1|spondyloarthropathy, susceptibility to caused by mutation in HLA-B|susceptibility to spondyloarthropathy 1											DOID:0080603|OMIM:106300																		owl:Class
MONDO:0023023	biolink:NamedThing	neonatal dacryocystitis	Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.	mondoexuq1wtf	Neonatal Dacryocystitis|Neonatal dacryocystitis|neonatal dacryocystitis											NCIT:C116819|UMLS:C0270178|SCTID:23735003																		owl:Class
MONDO:0004384	biolink:NamedThing	maxillary sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	mondoexuq1wtf	inverted papilloma of the maxillary sinus|inverted papilloma of maxillary sinus|maxillary sinus inverted papilloma											NCIT:C6840|UMLS:C1334645|DOID:7868																		owl:Class
MONDO:0002089	biolink:NamedThing	retinal vascular occlusion	An occlusion of the retinal vasculature.	mondoexuq1wtf	retinal vascular occlusion, unspecified|retinal vascular occlusion											DOID:1729|ICD10:H34|UMLS:C0035326|ICD10:H34.9|ICD9:362.30|NCIT:C34980|SCTID:73757007|ICD9:362.3|COHD:440392																		owl:Class
MONDO:0012484	biolink:NamedThing	prosopagnosia, hereditary	An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	face blindness|prosopagnosia, developmental|prosopagnosia, congenital|developmental prosopagnosia|congenital prosopagnosia|hereditary prosopagnosia|hereditary prosopagnosia (disease)|prosopagnosia, hereditary											OMIM:610382|UMLS:C2931455|GARD:0010035																		owl:Class
MONDO:0011767	biolink:NamedThing	autosomal recessive nonsyndromic deafness 31	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.	mondoexuq1wtf	whirler, mouse, homolog of|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|deafness, autosomal recessive 31|WHRN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 31|DFNB31|deafness, autosomal recessive type 31											DOID:0110490|UMLS:C1846839|ICD10:H90.3|OMIM:607084|MESH:C564629																		owl:Class
MONDO:0007366	biolink:NamedThing	seizures, benign familial neonatal, 2	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.	mondoexuq1wtf	benign neonatal seizures caused by mutation in KCNQ3|KCNQ3 benign neonatal seizures|BFNS2|convulsions, benign familial neonatal, 2|seizures, benign familial neonatal, type 2|seizures, benign familial neonatal, 2											UMLS:C1852581|OMIM:121201																		owl:Class
MONDO:0016027	biolink:NamedThing	benign neonatal seizures	A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.	mondoexuq1wtf	seizures, benign familial neonatal|benign familal neonatal seizures|BFNS|benign familial neonatal convulsions|benign neonatal convulsions|benign familial neonatal seizures|benign familial convulsion|benign familial convulsions											ICD10:G40.3|OMIMPS:121200|SCTID:38281008|NCIT:C117307|Orphanet:1949|MedDRA:10067866|DOID:14264																		owl:Class
MONDO:0014255	biolink:NamedThing	complement factor b deficiency		mondoexuq1wtf	CFBD|complement factor b deficiency|complement factor B deficiency											OMIM:615561|UMLS:C3809950																		owl:Class
MONDO:0044978	biolink:NamedThing	disease of cell nucleus		mondoexuq1wtf																														owl:Class
MONDO:0014134	biolink:NamedThing	pulmonary hypertension, primary, 2	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.	mondoexuq1wtf	pulmonary hypertension, primary, 2|SMAD9 primary pulmonary hypertension|PPH2|primary pulmonary hypertension caused by mutation in SMAD9|pulmonary hypertension, primary, type 2											OMIM:615342|UMLS:C3888002																		owl:Class
MONDO:0030915	biolink:NamedThing	intellectual disability, autosomal recessive 61	An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.	mondoexuq1wtf	autosomal recessive mental retardation 61|MRT61|intellectual disability, autosomal recessive 61|autosomal recessive intellectual disability 61|Alwadei syndrome|mental retardation, autosomal recessive 61											OMIM:617773|DOID:0080239|UMLS:CN651335																		owl:Class
MONDO:0023238	biolink:NamedThing	giant mammary hamartoma		mondoexuq1wtf	giant hamartoma of the breast											MESH:C536818|GARD:0000208|UMLS:C2931343														https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma				owl:Class
MONDO:0009668	biolink:NamedThing	lethal multiple pterygium syndrome	Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.	mondoexuq1wtf	autosomal recessive lethal multiple pterygium syndrome|pterygium syndrome, multiple, lethal type|lethal multiple pterygium syndrome|pterygium syndrome multiple lethal type|multiple pterygium syndrome lethal type|multiple pterygium syndrome, lethal type|LMPS											GARD:0003834|SCTID:60192008|Orphanet:33108|ICD10:Q79.8|UMLS:C1854678|ICD9:759.89|NCIT:C101038|OMIM:253290														https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type				owl:Class
MONDO:0002222	biolink:NamedThing	urethra leiomyoma	A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of urethra|urethra leiomyoma|leiomyoma of the urethra|urethral leiomyoma											UMLS:C1336888|DOID:2142|NCIT:C6171																		owl:Class
MONDO:0002247	biolink:NamedThing	factor X deficiency	A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.	mondoexuq1wtf												SCTID:76642003|MESH:D005171|NCIT:C131632																		owl:Class
MONDO:0002655	biolink:NamedThing	cutaneous Paget disease	A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.	mondoexuq1wtf	extramammary Paget's disease|cutaneous Paget's disease|zone of skin Paget disease|cutaneous Paget disease											DOID:3450																		owl:Class
MONDO:0002184	biolink:NamedThing	drug-induced hepatitis	Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.	mondoexuq1wtf	drug-induced chronic hepatitis											EFO:1000905|DOID:2044|SCTID:235889003																		owl:Class
MONDO:0005359	biolink:NamedThing	drug-induced liver injury	A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.	mondoexuq1wtf	drug induced hepatotoxicity|drug-induced disorder of liver											EFO:0004228|SCTID:197352008|MESH:D056486																		owl:Class
MONDO:0010597	biolink:NamedThing	glutamyl ribose-5-phosphate storage disease		mondoexuq1wtf	ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease											OMIM:305920|MESH:C564422|UMLS:C1844440																		owl:Class
MONDO:0014078	biolink:NamedThing	platelet-type bleeding disorder 15	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.	mondoexuq1wtf	autosomal dominant macrothrombocytopenia ACTN1-related|BDPLT15|macrothrombocytopenia, autosomal dominant, ACTN1-related|bleeding disorder, platelet-type, 15|ACTN1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in ACTN1											UMLS:C3554663|OMIM:615193|DOID:0111053																		owl:Class
MONDO:0015372	biolink:NamedThing	autosomal dominant macrothrombocytopenia	This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.	mondoexuq1wtf												UMLS:C4304021|Orphanet:140957|ICD10:D69.4|UMLS:CN199474|SCTID:720521008																		owl:Class
MONDO:0011221	biolink:NamedThing	Weyers ulnar ray/oligodactyly syndrome		mondoexuq1wtf	Weyers ulnar ray/oligodactyly syndrome											UMLS:C1865566|GARD:0010178|OMIM:602418|MESH:C536696														https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome				owl:Class
MONDO:0014648	biolink:NamedThing	Al-Raqad syndrome		mondoexuq1wtf	AL-RAQAD syndrome|Al-Raqad syndrome|ARS											UMLS:C4085595|OMIM:616459																		owl:Class
MONDO:0002211	biolink:NamedThing	B cell deficiency	A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.	mondoexuq1wtf	immunoglobulin heavy chain deficiency|immunoglobulin heavy chain deletion|B-cell deficiency|deficiency of humoral immunity|B cell (antibody) deficiencies					See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18						ICD9:279.03|NCIT:C4799|DOID:2115																		owl:Class
MONDO:0021090	biolink:NamedThing	lipid-rich breast carcinoma	An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.	mondoexuq1wtf	lipid secreting breast carcinoma|breast lipid-rich carcinoma|lipid-rich breast carcinoma											UMLS:C1517894|DOID:7076|NCIT:C40365																		owl:Class
MONDO:0003570	biolink:NamedThing	lipid-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.	mondoexuq1wtf	lipid-rich carcinoma|lipid-rich carcinoma (morphologic abnormality)											ICDO:8314/3|DOID:5658|UMLS:C0334318|NCIT:C4152																		owl:Class
MONDO:0008286	biolink:NamedThing	crossed polysyndactyly	Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.	mondoexuq1wtf	crossed polydactyly|polysyndactyly, crossed											UMLS:C1867999|Orphanet:2935|ICD10:Q70.4|MESH:C566773|GARD:0001617|OMIM:175690														https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly				owl:Class
MONDO:0003675	biolink:NamedThing	posterolateral myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.	mondoexuq1wtf												DOID:5851																		owl:Class
MONDO:0015826	biolink:NamedThing	autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	mondoexuq1wtf	autosomal dominant spondylocostal dysplasia|spondylocostal dysostosis, autosomal dominant											UMLS:CN200437|UMLS:C4274761|Orphanet:1797|SCTID:716232002|ICD10:Q76.4																		owl:Class
MONDO:0020433	biolink:NamedThing	ectasia of the left appendage	Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	mondoexuq1wtf	ectasia of the left atrial appendage|ectasia of the left auricle|dilatation of the left auricle|dilatation of the left atrial appendage|dilatation of the left appendage											ICD10:Q20.8|Orphanet:99102																		owl:Class
MONDO:0030917	biolink:NamedThing	intellectual disability, autosomal dominant 51		mondoexuq1wtf	autosomal dominant mental retardation 51|autosomal dominant intellectual disability 51|MRD51|intellectual disability, autosomal dominant 51|mental retardation, autosomal dominant 51											OMIM:617788|UMLS:CN671931|DOID:0080232																		owl:Class
MONDO:0001630	biolink:NamedThing	branch retinal artery occlusion	An occlusion of a branch of the retinal artery.	mondoexuq1wtf	retinal arterial branch occlusion|arterial retinal branch occlusion					Editor note: see https://github.com/obophenotype/human-phenotype-ontology/issues/4266						ICD10:H34.23|DOID:13094|ICD9:362.32|COHD:437544|SCTID:50821009|NCIT:C34436|UMLS:C0006123																		owl:Class
MONDO:0008526	biolink:NamedThing	talonavicular coalition		mondoexuq1wtf	talonavicular coalition											MESH:C536895|OMIM:186750|GARD:0010062														https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition				owl:Class
MONDO:0005546	biolink:NamedThing	fibromyalgia	A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.	mondoexuq1wtf	fibromyalgia|fibromyalgia syndrome											NCIT:C87497|EFO:0005687|DOID:631|ICD10:M79.7|ICD10:M79.1|ICD9:729.1|GARD:0012069|SCTID:203082005|UMLS:C0016053|MESH:D005356														https://github.com/monarch-initiative/mondo/issues/3170				owl:Class
MONDO:0024317	biolink:NamedThing	chronic pain syndrome	Chronic form of disorder involving pain.	mondoexuq1wtf	chronic disorder involving pain|chronic pain disease|disorder involving pain, chronic											ICD9:338.4|UMLS:C1298685|ICD10:G89.4|SCTID:373621006																		owl:Class
MONDO:0040923	biolink:NamedThing	late latent syphilis	Latent syphilis when infection was acquired more than twelve months previously.	mondoexuq1wtf	late latent syphilis											UMLS:C1260915|NCIT:C128371|SCTID:186903006																		owl:Class
MONDO:0009776	biolink:NamedThing	spermatogenic failure 1		mondoexuq1wtf	Oligosynaptic infertility|SPGF1|Oligochiasmatic infertility|spermatogenic failure 1											OMIM:258150|Orphanet:217034|MESH:C562902|UMLS:C0403810|SCTID:236803007|DOID:0070188																		owl:Class
MONDO:0100251	biolink:NamedThing	familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome		mondoexuq1wtf	tumoral calcinosis with hyperphosphatemia|hyperphosphatemic familial tumoral calcinosis|tumoral calcinosis, hyperphosphatemic, familial, 1|cortical hyperostosis with hyperphosphatemia|HFTC|hyperphosphatemia hyperostosis syndrome|lipocalcinogranulomatosis|hyperphosphatemia hyperostosis|hyperphosphatemia tumoral calcinosis|hyperostosis with hyperphosphatemia|morbus Teutschlaender|primary hyperphosphatemic tumoral calcinosis|HHS|PHPTC|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|hypercalcemic tumoral calcinosis|familial Teutschlaender disease							http://orcid.org/0000-0001-5208-3432				UMLS:C1876187|ICD10:M11.2|GARD:0010879|DOID:0111063|NCIT:C131851|Orphanet:306661																		owl:Class
MONDO:0017743	biolink:NamedThing	disorder of O-N-acetylgalactosaminylglycan synthesis		mondoexuq1wtf												Orphanet:309458|ICD10:E77.8|UMLS:CN227190																		owl:Class
MONDO:0023305	biolink:NamedThing	heavy metal poisoning	Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.	mondoexuq1wtf	heavy metal toxicosis|heavy metal toxicity|chronic heavy metal poisoning|toxic effect of heavy metal|heavy metal poisoning											GARD:0006577|ICD9:985.8|MESH:C535854|EFO:1001518|SCTID:85866007														https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning				owl:Class
MONDO:0007211	biolink:NamedThing	brachydactyly-arterial hypertension syndrome	Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.	mondoexuq1wtf	hypertension and brachydactyly syndrome|brachydactyly type E with short stature and hypertension|brachydactyly with hypertension|HTNB|brachydactyly type E, with short stature and hypertension|Bilginturan brachydactyly|brachydactyly, type E, with short stature and hypertension|Bilginturan syndrome											Orphanet:1276|DOID:0111247|UMLS:C1862170|ICD10:Q73.8|SCTID:720568003|GARD:0000967|OMIM:112410|MESH:C537095																		owl:Class
MONDO:0013843	biolink:NamedThing	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.	mondoexuq1wtf	GUCY2C meconium ileus|meconium ileus caused by mutation in GUCY2C|meconium ileus due to guanylate cyclase 2C deficiency|meconium ileus											OMIM:614665|ICD10:P76.0|ICD9:777.1|Orphanet:314376|SCTID:733447005|COHD:193591																		owl:Class
MONDO:0005598	biolink:NamedThing	dopaminergic neuroblastoma	A neuroblastoma associated with increased dopamine excretion.	mondoexuq1wtf												EFO:0006391|PMID:3385588																		owl:Class
MONDO:0003128	biolink:NamedThing	classic pulmonary blastoma	A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.	mondoexuq1wtf	classic pulmonary blastoma|biphasic pulmonary blastoma											NCIT:C36054|DOID:4767|UMLS:C1332556																		owl:Class
MONDO:0004237	biolink:NamedThing	large cell carcinoma with rhabdoid phenotype	A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.	mondoexuq1wtf	large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality)|RLCLC											ONCOTREE:RLCLC|UMLS:C1265997|DOID:7480|NCIT:C6876|ICDO:8014/3																		owl:Class
MONDO:0019308	biolink:NamedThing	junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.	mondoexuq1wtf	JEB-I|EBJ-I|inverse JEB											UMLS:C2673609|GARD:0002143|UMLS:C2673610|ICD10:Q81.8|Orphanet:79405																		owl:Class
MONDO:0000231	biolink:NamedThing	Far eastern spotted fever		mondoexuq1wtf	Rickettsia heilongjiangensis spotted fever											UMLS:C3532354|DOID:0050046|SCTID:472822008																		owl:Class
MONDO:0011845	biolink:NamedThing	migraine with or without aura, susceptibility to, 3		mondoexuq1wtf	migraine with or without aura, susceptibility to, type 3|migraine with or without aura, susceptibility to, 3|MGR3											OMIM:607498																		owl:Class
MONDO:0016605	biolink:NamedThing	perinatal lethal hypophosphatasia	A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.	mondoexuq1wtf	perinatal lethal Rathburn disease|perinatal lethal phosphoethanolaminuria											ICD10:E83.3|UMLS:C2673477|Orphanet:247623																		owl:Class
CL:0000613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019529	biolink:NamedThing	radiation myelitis	A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.	mondoexuq1wtf	radiation myelopathy|delayed radiation myelopathy											SCTID:26037005|Orphanet:90021|ICD10:G97.8|ICD9:336.8																		owl:Class
MONDO:0016368	biolink:NamedThing	Rothmund-Thomson syndrome type 1	Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.	mondoexuq1wtf	RTS1|Poikiloderma Atrophicans and Cataract|ROTHMUND-THOMSON SYNDROME, TYPE 1|poikiloderma of Rothmund-Thomson type 1										MONDO:0032840	UMLS:CN201233|ICD10:Q82.8|Orphanet:221008|OMIM:618625																		owl:Class
MONDO:0018492	biolink:NamedThing	hereditary clear cell renal cell carcinoma	A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.	mondoexuq1wtf	Hereditary clear cell renal cell cancer|hereditary clear cell renal cell adenocarcinoma|hereditary conventional (clear cell) renal cell carcinoma|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional renal cell carcinoma										MONDO:0004137	DOID:7192|NCIT:C36260|UMLS:CN237493|Orphanet:422526|SCTID:764961009|ICD10:C64																		owl:Class
MONDO:0010361	biolink:NamedThing	intellectual disability, X-linked 30	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.	mondoexuq1wtf	MRX30|intellectual disability, X-linked type 30|PAK3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 30|non-syndromic X-linked intellectual disability caused by mutation in PAK3|intellectual disability, X-linked 47|mental retardation, X-linked 47|mental retardation, X-linked 30|mental retardation, X-linked type 30											OMIM:300558|UMLS:C0796237																		owl:Class
MONDO:0012974	biolink:NamedThing	autosomal dominant nonsyndromic deafness 59	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.	mondoexuq1wtf	DFNA59|autosomal dominant nonsyndromic deafness type 59|deafness, autosomal dominant 59|autosomal dominant deafness 59											ICD10:H90.3|DOID:0110583|MESH:C567216|UMLS:C2675238|OMIM:612642																		owl:Class
MONDO:0019522	biolink:NamedThing	recessive dystrophic epidermolysis bullosa-generalized other	Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.	mondoexuq1wtf	recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|RDEB, non-Hallopeau-Siemens type|RDEB-generalized other|autosomal recessive dystrophic epidermolysis bullosa, generalized other|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|RDEB generalisata mitis|RDEB, generalized intermediate|RDEB-O|recessive dystrophic epidermolysis bullosa, generalized intermediate|generalized mitis RDEB											UMLS:CN206337|Orphanet:89842|ICD10:Q81.2|GARD:0012794														https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other				owl:Class
MONDO:0002636	biolink:NamedThing	accessory nerve disease	A disease involving the accessory XI nerve.	mondoexuq1wtf	accessory XI nerve disease|disorder of accessory [11th] nerve|disease of accessory XI nerve|disorder of 11th nerve|disorder of accessory nerve|disorder of the 11th nerve|eleventh nerve disorder|disease or disorder of accessory XI nerve|disorder of accessory XI nerve|accessory XI nerve disease or disorder|accessory nerve disorder											NCIT:C26953|ICD9:352.4|DOID:339|SCTID:84759007|COHD:437547|UMLS:C0152180|MESH:D020436																		owl:Class
MONDO:0020796	biolink:NamedThing	Silver-Russell syndrome 1		mondoexuq1wtf	SRS1											OMIM:180860																		owl:Class
MONDO:0020542	biolink:NamedThing	malignant Sertoli-Leydig cell tumor of ovary	Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.	mondoexuq1wtf	ovarian malignant Sertoli-Leydig cell tumor|virilizing ovarian tumor|malignant ovarian Sertoli-Leydig cell tumor|ovarian Sertoli-Leydig cell cancer|Arrhenoblastoma|malignant ovarian sertoli-Leydig cell tumor|Androblastoma|malignant Sertoli-Leydig cell tumor of the ovary|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell tumor, malignant											ICD9:239.5|ICD10:C56|UMLS:CN207443|UMLS:C0342515|SCTID:237795006|Orphanet:99916																		owl:Class
MONDO:0036595	biolink:NamedThing	ovarian Sertoli-Leydig cell tumor	A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.	mondoexuq1wtf	Sertoli-Leydig neoplasm of the ovary|ovarian Sertoli-Leydig cell tumor|Sertoli-Leydig cell tumor of ovary|Sertoli-Leydig cell tumor of the ovary|ovarian Sertoli-Leydig cell neoplasm|arrhenoblastoma|androblastoma|Sertoli-Leydig neoplasm of ovary											EFO:1000429|SCTID:254866007|UMLS:C0003810|NCIT:C2880																		owl:Class
CL:0000556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011926	biolink:NamedThing	psoriasis 9, susceptibility to		mondoexuq1wtf	psoriasis 9, susceptibility to|PSORS9											DOID:0111284|OMIM:607857																		owl:Class
MONDO:0017113	biolink:NamedThing	isolated bilateral hemispheric cerebellar hypoplasia	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	mondoexuq1wtf												ICD10:Q04.3|Orphanet:269221																		owl:Class
MONDO:0020131	biolink:NamedThing	malformation of the cerebellar hemispheres		mondoexuq1wtf												Orphanet:98516|ICD10:Q04.3																		owl:Class
MONDO:0020448	biolink:NamedThing	right inferior vena cava connecting to left-sided atrium		mondoexuq1wtf	right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium											Orphanet:99119|ICD10:Q26.8																		owl:Class
CL:0000484	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013992	biolink:NamedThing	obesity due to leptin receptor gene deficiency		mondoexuq1wtf	obesity, morbid, nonsyndromic 2|leptin receptor deficiency											Orphanet:179494|OMIM:614963|NCIT:C120386|UMLS:C3554225|ICD10:E66.8																		owl:Class
MONDO:0016553	biolink:NamedThing	isolated congenital hypogonadotropic hypogonadism	A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic congenital hypogonadotropic hypogonadism											UMLS:CN924907|ICD10:E23.0|Orphanet:238666																		owl:Class
MONDO:0001736	biolink:NamedThing	neonatal infective mastitis		mondoexuq1wtf												DOID:13520|COHD:76221|ICD10:P39.0|UMLS:C0158948|SCTID:3468005|ICD9:771.5																		owl:Class
MONDO:0016868	biolink:NamedThing	partial deletion of chromosome 3		mondoexuq1wtf	partial monosomy of chromosome 3|partial deletion of chromosome type 3											Orphanet:261776|ICD10:Q93.5																		owl:Class
MONDO:0008441	biolink:NamedThing	spastic paraplegia with associated extrapyramidal signs		mondoexuq1wtf	spastic paraplegia with associated extrapyramidal signs											OMIM:182800|UMLS:C1866852|MESH:C566681																		owl:Class
MONDO:0012237	biolink:NamedThing	nemaline myopathy 6	Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.	mondoexuq1wtf	nemaline myopathy 6, autosomal dominant|KBTBD13 nemaline myopathy|nemaline myopathy 6|nemaline myopathy type 6|nemaline myopathy caused by mutation in KBTBD13|NEM6											OMIM:609273|MESH:C538398|UMLS:C1836472|DOID:0110935																		owl:Class
MONDO:0020413	biolink:NamedThing	encircling double aortic arch	Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.	mondoexuq1wtf												ICD10:Q25.4|SCTID:764521002|Orphanet:99075																		owl:Class
MONDO:0010856	biolink:NamedThing	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	mondoexuq1wtf	polycystic kidney disease, infantile severe, with tuberous sclerosis|PKDTS|chromosome 16P13.3 deletion syndrome, distal|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|tuberous sclerosis polycystic kidney disease contiguous gene syndrome|polycystic kidneys, severe infantile with tuberous sclerosis											OMIM:600273|MESH:C536328|UMLS:C1838327|GARD:0009481|SCTID:765331004|Orphanet:88924																		owl:Class
MONDO:0015403	biolink:NamedThing	non-involuting congenital hemangioma	Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).	mondoexuq1wtf	NICH|noninvoluting congenital hemangioma											Orphanet:141179|GARD:0010890|SCTID:703295003|UMLS:C1275417|ICD10:D18.0														https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma				owl:Class
MONDO:0011400	biolink:NamedThing	dilated cardiomyopathy 1G	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	mondoexuq1wtf	familial isolated dilated cardiomyopathy caused by mutation in TTN|TTN familial isolated dilated cardiomyopathy|CMD1G|cardiomyopathy, dilated, type 1G|dilated cardiomyopathy type 1G|cardiomyopathy, dilated, 1G											UMLS:C1858763|DOID:0110430|MESH:C565824|ICD10:I42.0|OMIM:604145																		owl:Class
MONDO:0015907	biolink:NamedThing	epimetaphyseal skeletal dysplasia		mondoexuq1wtf												ICD10:Q77.8|GARD:0002176|Orphanet:1819														https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia				owl:Class
MONDO:0020510	biolink:NamedThing	idiopathic syringomyelia	Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.	mondoexuq1wtf												ICD10:G95.0|Orphanet:99858|SCTID:725001004|UMLS:C4511700																		owl:Class
MONDO:0026722	biolink:NamedThing	Mullegama-Klein-Martinez syndrome		mondoexuq1wtf	MULLEGAMA-KLEIN-MARTINEZ SYNDROME|Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MKMS											OMIM:301022																		owl:Class
MONDO:0011732	biolink:NamedThing	familial digital arthropathy-brachydactyly	Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	mondoexuq1wtf	digital arthropathy-brachydactyly, familial|FDAB											UMLS:C1847406|OMIM:606835|MESH:C564656|Orphanet:85169|ICD10:M06.8																		owl:Class
MONDO:0021224	biolink:NamedThing	iris neoplasm	A neoplasm (disease) that involves the iris.	mondoexuq1wtf	iris neoplasm (disease)|tumor of the iris|tumor of iris|iris tumor|neoplasm of iris|neoplasm of the iris											UMLS:C0022079|NCIT:C3142																		owl:Class
MONDO:0014283	biolink:NamedThing	autosomal dominant nonsyndromic deafness 56	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness caused by mutation in TNC|DFNA56|deafness, autosomal dominant type 56|autosomal dominant deafness 56|autosomal dominant nonsyndromic deafness type 56|TNC autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 56											ICD10:H90.3|OMIM:615629|UMLS:C3810170|DOID:0110581																		owl:Class
MONDO:0100226	biolink:NamedThing	parasomnia, sleepwalking type	A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).	mondoexuq1wtf	somnambulism|sleepwalking disorder|parasomnia, sleepwalking type|sleep walking|PSMNSW|sleep walking disorder|parasomnia, sleep terrors type					Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term.						OMIM:613938|MESH:D013009														https://github.com/monarch-initiative/mondo/issues/2083				owl:Class
MONDO:0004625	biolink:NamedThing	phlebitis	Inflammation of a vein.	mondoexuq1wtf	vein inflammation|inflammation of vein											SCTID:61599003|MESH:D010689|EFO:1001395|ICD10:I80|DOID:864|NCIT:C38003																		owl:Class
MONDO:0016899	biolink:NamedThing	Duchenne and Becker muscular dystrophy	Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	mondoexuq1wtf	severe dystrophinopathy, Duchenne and Becker type											ICD10:G71.0|Orphanet:262|UMLS:CN227033																		owl:Class
MONDO:0016702	biolink:NamedThing	oligoastrocytoma	A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)	mondoexuq1wtf	mixed oligoastrocytoma|mixed astrocytic-oligodendroglial neoplasm|mixed oligo-astrocytoma|mixed astrocytoma-oligodendroglioma|WHO grade II mixed glioma|glioma, mixed, benign|mixed astrocytic-oligodendroglial tumor|MOA|oligoastrocytoma|mixed oligodendroglioma-astrocytoma											EFO:0000630|GARD:0009769|UMLS:C0280793|NCIT:C4050|DOID:7912|ICD10:C71.9|ONCOTREE:OAST|SCTID:716647001|MedDRA:10027744|Orphanet:251656														https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma				owl:Class
MONDO:0003255	biolink:NamedThing	mediastinal granular cell myoblastoma	An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.	mondoexuq1wtf	granular cell tumor of mediastinum|mediastinal granular cell tumor|granular cell myoblastoma of mediastinum|mediastinal granular cell myoblastoma|mediastinal granular cell neoplasm|granular cell neoplasm of mediastinum|granular cell tumor of the mediastinum|mediastinum granular cell tumor|granular cell neoplasm of the mediastinum|granular cell myoblastoma of the mediastinum											UMLS:C1334656|NCIT:C6601|DOID:5046																		owl:Class
MONDO:0032658	biolink:NamedThing	macrocephaly, acquired, with impaired intellectual development		mondoexuq1wtf	Macrocephaly, Acquired, With Mental Retardation|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT|MACID											OMIM:618286																		owl:Class
MONDO:0004140	biolink:NamedThing	intermediate malignant teratoma	An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.	mondoexuq1wtf	malignant teratoma, intermediate|malignant teratoma, intermediate (morphologic abnormality)|Intermediate immature teratoma											UMLS:C0334522|NCIT:C4288|ICDO:9083/3|DOID:7202																		owl:Class
MONDO:0020944	biolink:NamedThing	fungal infection of eye	Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.	mondoexuq1wtf	Mycosis, Ocular|OCULAR INFECT FUNGAL|Ocular Infections, Fungal|MYCOTIC INFECT OCULAR|Fungal Ocular Infection|Eye Infection, Fungal|Ocular Mycoses|fungal infection of eye|Ocular Mycotic Infection|Fungal eye infection|Ocular Mycosis|Oculomycosis|Infections, Fungal Eye|Oculomycoses|Ocular Infection, Fungal|Infection, Ocular Mycotic|Infection, Fungal Ocular|Mycoses, Ocular|Infections, Fungal Ocular|ocular mycosis|EYE INFECT FUNGAL|FUNGAL EYE INFECT|Eye Infections, Fungal|Ocular mycosis|Mycotic Infections, Ocular|Fungal Eye Infection|Fungal Ocular Infections|Fungal Eye Infections|Infections, Ocular Mycotic|Infection, Fungal Eye|Fungal infection of eye|fungal eye infection|Ocular Mycotic Infections|Mycotic Infection, Ocular											MESH:D015821|ICD9:117.9|SCTID:31194008|UMLS:C0015405																		owl:Class
MONDO:0007206	biolink:NamedThing	bone pain, periodic		mondoexuq1wtf	bone pain, periodic											OMIM:112270																		owl:Class
MONDO:0010342	biolink:NamedThing	autism, susceptibility to, X-linked 3		mondoexuq1wtf	autism, susceptibility to, X-linked type 3|susceptibility to X-linked autism 3|AUTSX3|autism, susceptibility to, X-linked 3											OMIM:300496																		owl:Class
MONDO:0054615	biolink:NamedThing	spermatogenic failure 18		mondoexuq1wtf	SPGF18|spermatogenic failure 18											DOID:0070165|OMIM:617576																		owl:Class
MONDO:0019455	biolink:NamedThing	acute panmyelosis with myelofibrosis	An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.	mondoexuq1wtf	acute myelosclerosis|acute (malignant) myelofibrosis|acute myelodysplasia with myelofibrosis|acute panmyelosis|APMF|acute (malignant) myelosclerosis|acute myelofibrosis											NCIT:C4344|SCTID:109991003|UMLS:C0334674|ICD10:C94.4|ICD9:289.89|ICDO:9931/3|Orphanet:86843|GARD:0011907|ONCOTREE:APMF|MedDRA:10000879														https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis				owl:Class
MONDO:0009392	biolink:NamedThing	hyperopia, high		mondoexuq1wtf	hyperopia, high											MESH:C565497|OMIM:238950																		owl:Class
MONDO:0030030	biolink:NamedThing	Nizon-Isidor syndrome		mondoexuq1wtf	NIZON-ISIDOR SYNDROME|NIZIDS|nizon-isidor syndrome											OMIM:618872																		owl:Class
MONDO:0100416	biolink:NamedThing	acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)	mondoexuq1wtf	AML, FLT3-TKD Point Mutation|AML, FLT3 tyrosine kinase domain point mutation|AML, FLT3/TKD Point Mutation																													owl:Class
MONDO:0000859	biolink:NamedThing	spina bifida occulta	The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.	mondoexuq1wtf	spina bifida occulta (disease)|spina bifida occulta		spina bifida occulta (disease)									ICD9:756.17|COHD:381677|SCTID:76916001|DOID:0080073|HP:0003298|MESH:D016136|NCIT:C101044																		owl:Class
MONDO:0001847	biolink:NamedThing	nuclear senile cataract	A senile cataract that involves the lens nucleus.	mondoexuq1wtf	lens nucleus senile cataract|Senile nuclear sclerosis|senile cataract of lens nucleus|Senile nuclear cataract											COHD:439297|ICD9:366.16|DOID:13963|SCTID:193589009																		owl:Class
MONDO:0045050	biolink:NamedThing	nuclear cataract	A cataract (disease) that involves the lens nucleus.	mondoexuq1wtf	lens nucleus cataract (disease)|cataract (disease) of lens nucleus											ICD9:366.04|SCTID:53889007|HP:0100018																		owl:Class
MONDO:0007306	biolink:NamedThing	Klippel-Feil syndrome 1, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.	mondoexuq1wtf	KFS1|Klippel-FEIL syndrome 1, autosomal dominant|GDF6 isolated Klippel-Feil syndrome|Klippel-Feil syndrome 1, autosomal dominant|cervical vertebral fusion, autosomal dominant|Kfs|isolated Klippel-Feil syndrome caused by mutation in GDF6											MESH:C536887|DOID:0080589|UMLS:C1861689|OMIM:118100																		owl:Class
MONDO:0006512	biolink:NamedThing	estrogen-receptor positive breast cancer	A subtype of breast cancer that is estrogen-receptor positive	mondoexuq1wtf	estrogen receptor positive breast cancer|ER+ breast cancer											EFO:1000649|DOID:0060075																		owl:Class
MONDO:0054691	biolink:NamedThing	immunodeficiency, common variable, 14		mondoexuq1wtf	immunodeficiency, COMMON variable, 14|CVID14											OMIM:617765|UMLS:C4540380																		owl:Class
MONDO:0001330	biolink:NamedThing	presbyopia	The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.	mondoexuq1wtf												COHD:373478|UMLS:C0033075|ICD10:H52.4|ICD9:367.4|MESH:D011305|SCTID:41256004|DOID:11638																		owl:Class
MONDO:0016164	biolink:NamedThing	herpetiform pemphigus	Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.	mondoexuq1wtf												Orphanet:208524|ICD10:L10.2|UMLS:CN226858																		owl:Class
MONDO:0001391	biolink:NamedThing	indeterminate leprosy	A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.	mondoexuq1wtf	indeterminate leprosy [group I]|uncharacteristic leprosy											ICD9:030.2|SCTID:14386001|UMLS:C0021192|DOID:11851|ICD10:A30.0																		owl:Class
MONDO:0013217	biolink:NamedThing	Diamond-Blackfan anemia 10	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.	mondoexuq1wtf	DBA10|RPS26 Diamond-Blackfan anemia|Diamond-Blackfan anemia 10|Diamond-Blackfan anemia caused by mutation in RPS26|Diamond-Blackfan Anemia type 10											OMIM:613309|UMLS:C2750080|MESH:C567649																		owl:Class
MONDO:0008188	biolink:NamedThing	papillomatosis, confluent and reticulated		mondoexuq1wtf	papillomatosis, confluent and reticulated|papillomatosis, familial cutaneous|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|carp											UMLS:C0263385|OMIM:167900|MESH:C566832																		owl:Class
MONDO:0003728	biolink:NamedThing	breast fibrosarcoma	A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	breast fibrosarcoma|fibrosarcoma of the breast|breast fibrosarcoma (disease)|fibrosarcoma of breast											DOID:6001|UMLS:C1332630|NCIT:C5185																		owl:Class
MONDO:0008588	biolink:NamedThing	hereditary geniospasm	Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.	mondoexuq1wtf	trembling Chin|hereditary chin tremor/myoclonus|GSM 1|geniospasm|hereditary chin-trembling|geniospasm 1|hereditary chin myoclonus|familial trembling of the chin|GSM1											UMLS:C2931589|GARD:0009501|ICD10:G25.3|SCTID:718103001|MESH:C537682|Orphanet:53372|OMIM:190100														https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm				owl:Class
MONDO:0011423	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2E	Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.	mondoexuq1wtf	beta-sarcoglycanopathy|SGCB autosomal recessive limb-girdle muscular dystrophy|LGMD2E|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|limb-girdle muscular dystrophy type 2E|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|muscular dystrophy, limb-girdle, type 2E|Beta-sarcoglycan limb-girdle muscular dystrophy											GARD:0003851|GARD:0000870|DOID:0110279|Orphanet:119|SCTID:718850008|OMIM:604286|ICD10:G71.0																		owl:Class
MONDO:0010420	biolink:NamedThing	X-linked erythropoietic protoporphyria	X-linked form of erythropoietic protoporphyria.	mondoexuq1wtf	Erythrohepatic protoporphyria, X-linked|XLEPP|XLDPP|protoporphyria, erythropoietic, X-linked|protoporphyria, erythropoietic, X-linked dominant|XLP|X-linked dominant protoporphyria|erythropoietic protoporphyria, X-linked|XLPP|X-linked dominant erythropoietic protoporphyria											OMIM:300752|ICD10:E80.0|MESH:C567464|GARD:0010915|Orphanet:443197																		owl:Class
MONDO:0014949	biolink:NamedThing	developmental and epileptic encephalopathy, 47	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 47; EIEE47|FGF12 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 47|EIEE47|epileptic encephalopathy, early infantile, type 47|early infantile epileptic encephalopathy caused by mutation in FGF12|DEE47											DOID:0080425|UMLS:C4310685|OMIM:617166																		owl:Class
MONDO:0011659	biolink:NamedThing	heterotaxy, visceral, 3, autosomal		mondoexuq1wtf	heterotaxy, visceral, 3, autosomal|HTX3											UMLS:C1853444|OMIM:606325|MESH:C565237																		owl:Class
MONDO:0014728	biolink:NamedThing	combined oxidative phosphorylation defect type 27	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.	mondoexuq1wtf	CARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in CARS2|combined oxidative phosphorylation deficiency 27|COXPD27|combined oxidative phosphorylation deficiency type 27											DOID:0111489|UMLS:C4225251|EFO:0009037|Orphanet:477774|OMIM:616672																		owl:Class
MONDO:0014097	biolink:NamedThing	congenital short bowel syndrome	Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	mondoexuq1wtf	congenital short bowel syndrome|CSBS											ICD10:Q43.8|Orphanet:2301|SCTID:715201005																		owl:Class
MONDO:0006427	biolink:NamedThing	spindle cell melanoma	A melanoma characterized by the presence of malignant spindle-shaped melanocytes.	mondoexuq1wtf	spitzoid malignant melanoma|malignant spindle cell melanoma|desmoplastic melanoma|spindle cell melanoma|spindle cell malignant melanoma											EFO:1000546|UMLS:C0334444|ICDO:8772/3|DOID:3162|NCIT:C4237|SCTID:403923002																		owl:Class
MONDO:0009865	biolink:NamedThing	glycogen storage disease due to phosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.	mondoexuq1wtf	glycogenosis due to phosphoglycerate mutase deficiency|PGAM deficiency|Phosphoglycerate mutase deficiency|GSD type 10|Phosphoglycerate mutase, muscle, deficiency of|PGAM2 glycogen storage disease|GSD10|PGAMM deficiency|myopathy due to Phosphoglycerate mutase deficiency|glycogen storage disease 10|glycogen storage disease caused by mutation in PGAM2|glycogen storage disease type 10|GSDX|GSD due to phosphoglycerate mutase deficiency|myopathy due to phosphoglycerate mutase deficiency|muscle phosphoglycerate mutase deficiency|glycogen storage disease X|GSD 10											ICD10:E74.0|Orphanet:97234|MESH:C536176|OMIM:261670|GARD:0009964|NCIT:C131647|SCTID:61772003																		owl:Class
MONDO:0013814	biolink:NamedThing	podoconiosis, susceptibility to		mondoexuq1wtf	endemic Nonfilarial elephantiasis, susceptibility to|podoconiosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|PDCOS|lymphostatic verrucosis, susceptibility to											OMIM:614590																		owl:Class
MONDO:0012128	biolink:NamedThing	dextro-looped transposition of the great arteries 1	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.	mondoexuq1wtf	D-TGA|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries caused by mutation in MED13L|MED13L dextro-looped transposition of the great arteries|DTGA1|transposition of the great arteries, dextro-looped 1|dextro-looped transposition of the great arteries type 1											ICD10:Q20.3|GARD:0007795|UMLS:C1837341|MESH:C563853|OMIM:608808|DOID:0060771																		owl:Class
MONDO:0016544	biolink:NamedThing	IgG4-related mesenteritis	Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).	mondoexuq1wtf	mesenteric lipogranuloma|liposclerotic mesenteritis|lipomatous mesenteritis|mesenteric panniculitis|sclerosing mesenteritis|isolated mesenteric lipodystrophy											Orphanet:238593|GARD:0008169|ICD10:K65.8|SCTID:1092381000119100																		owl:Class
MONDO:0021583	biolink:NamedThing	melanocytic skin neoplasm	A melanocytic neoplasm that involves the zone of skin.	mondoexuq1wtf	zone of skin melanocytic neoplasm|melanocytic skin neoplasm|melanocytic neoplasm of skin|melanocytic neoplasm of zone of skin|cutaneous melanocytic neoplasm											UMLS:C0349501|NCIT:C7161																		owl:Class
MONDO:0016945	biolink:NamedThing	partial duplication of the short arm of chromosome 8	Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome 8p duplication|trisomy 8p|partial trisomy of the short arm of chromosome 8|8p duplication|partial trisomy 8p|partial duplication of the short arm of chromosome type 8|8p trisomy|partial trisomy of chromosome 8p|Duplication 8p|partial duplication of chromosome 8p											Orphanet:262758|GARD:0005361																		owl:Class
MONDO:0016929	biolink:NamedThing	partial duplication of chromosome 8		mondoexuq1wtf	partial duplication of chromosome type 8|partial trisomy of chromosome 8											MESH:C537941|Orphanet:262638|SCTID:726347008																		owl:Class
MONDO:0011724	biolink:NamedThing	encephalopathy due to GLUT1 deficiency	Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.	mondoexuq1wtf	G1D|glucose transporter type 1 deficiency syndrome|encephalopathy due to GLUT1 deficiency|glut-1 deficiency syndrome|glucose Transport defect, blood-brain barrier|GLUT1 deficiency syndrome 1|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|GLUT1 deficiency syndrome|glucose transport defect, blood-brain barrier|GLUT1 DS|GLUT1-DS|glucose transporter type1 (glut-1) deficiency|glucose transporter Protein syndrome|glucose transporter type 1 deficiency|glucose transporter protein syndrome|GLUT1 deficiency syndrome type 1|De Vivo disease|GLUT1 deficiency syndrome 1, autosomal recessive|GLUT1DS1											OMIM:606777|UMLS:CN030711|ICD10:G93.4|UMLS:C1847501|Orphanet:71277|MESH:C536830|EFO:0009139|GARD:0009265														https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome				owl:Class
MONDO:0002338	biolink:NamedThing	extratemporal epilepsy	An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.	mondoexuq1wtf	extratemporal epilepsy											DOID:2544|SCTID:111498005|UMLS:C0270849|NCIT:C7760|ICD9:345.80																		owl:Class
MONDO:0023006	biolink:NamedThing	doxorubicin induced cardiomyopathy		mondoexuq1wtf												GARD:0006285														https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy				owl:Class
MONDO:0014872	biolink:NamedThing	congenital stationary night blindness 1H	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.	mondoexuq1wtf	CSNB1H|GNB3 congenital stationary night blindness|congenital stationary night blindness type 1H|night blindness, congenital stationary, type 1H|congenital stationary night blindness caused by mutation in GNB3											OMIM:617024|UMLS:C4310758|DOID:0110866																		owl:Class
MONDO:0014568	biolink:NamedThing	hereditary spastic paraplegia 73	Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	mondoexuq1wtf	autosomal dominant spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant spastic paraplegia 73|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C|hereditary spastic paraplegia type 73|SPG73											ICD10:G11.4|DOID:0110818|UMLS:C4225387|Orphanet:444099|OMIM:616282																		owl:Class
MONDO:0001259	biolink:NamedThing	pituitary gland infarction	Ischemic necrosis of the pituitary gland.	mondoexuq1wtf	pituitary gland infarction|pituitary infarction|pituitary infarct											NCIT:C27117|UMLS:C0342405|SCTID:95830009|DOID:1130|ICD9:253.8																		owl:Class
MONDO:0002721	biolink:NamedThing	necrosis of pituitary	Ischemic or hemorrhagic necrosis of the pituitary gland.	mondoexuq1wtf	pituitary necrosis|pituitary gland Necrosis											UMLS:C0271558|SCTID:59572000|DOID:3646|NCIT:C27066																		owl:Class
MONDO:0006394	biolink:NamedThing	rectal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	rectal tubular adenoma											NCIT:C96477|UMLS:C3272804|EFO:1000504																		owl:Class
MONDO:0000530	biolink:NamedThing	rectum adenoma	An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	mondoexuq1wtf	adenoma of the rectum|rectum adenoma|adenoma of rectum|rectal adenoma											SCTID:399730005|UMLS:C1302652|NCIT:C5546|DOID:0050915																		owl:Class
MONDO:0029140	biolink:NamedThing	glycosylphosphatidylinositol biosynthesis defect 18		mondoexuq1wtf	GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18											OMIM:618143																		owl:Class
MONDO:0018202	biolink:NamedThing	gonadal germ cell tumor		mondoexuq1wtf												Orphanet:363582|UMLS:CN204712																		owl:Class
MONDO:0044906	biolink:NamedThing	bladder urothelial papilloma	A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	mondoexuq1wtf	bladder urothelial papilloma|urinary bladder transitional cell papilloma|urinary bladder urothelial papilloma|bladder transitional cell papilloma											NCIT:C39858																		owl:Class
MONDO:0013991	biolink:NamedThing	obesity due to congenital leptin deficiency	Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.	mondoexuq1wtf	LEPD|obesity, morbid, nonsyndromic 1|leptin deficiency or dysfunction											GARD:0013015|UMLS:C3554224|OMIM:614962|Orphanet:66628|DOID:0111334|ICD10:E66.8														https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency				owl:Class
MONDO:0024935	biolink:NamedThing	foot rot	A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)	mondoexuq1wtf	rot, foot|foot Rots|Rots, foot											MESH:D005535|UMLS:C0016513																		owl:Class
MONDO:0000421	biolink:NamedThing	inborn serine deficiency	An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	mondoexuq1wtf	inborn L-serine biosynthetic process disorder|rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process											DOID:0050721																		owl:Class
MONDO:0019864	biolink:NamedThing	tetrasomy 21	Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.	mondoexuq1wtf	tetrasomy type 21|Isochromosome 21											SCTID:764690001|GARD:0012480|Orphanet:96055|ICD10:Q99.8														https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21				owl:Class
MONDO:0002763	biolink:NamedThing	urethral verrucous carcinoma	A verrucous carcinoma that involves the urethra.	mondoexuq1wtf	urethra verrucous carcinoma|urethral verrucous carcinoma											UMLS:C1519827|DOID:3749|NCIT:C39874																		owl:Class
MONDO:0006118	biolink:NamedThing	breast fibrosis	Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.	mondoexuq1wtf	fibrosis of breast|breast fibrosis|fibrosis of the breast|fibrosclerosis of breast|breast fibrosclerosis|fibrosclerosis of the breast											ICD9:610.3|NCIT:C3660|COHD:75311|UMLS:C0156318|SCTID:29070004|DOID:10353|EFO:1000145|ICD10:N60.3																		owl:Class
MONDO:0010762	biolink:NamedThing	lymphoma, Hodgkin, Y-linked pseudoautosomal		mondoexuq1wtf	Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal											OMIM:400021|MESH:C564034|UMLS:C1839076																		owl:Class
MONDO:0000292	biolink:NamedThing	philophthalmiasis	A disease caused by infection with Philophthalmus.	mondoexuq1wtf	Philophthalmus infectious disease|Philophthalmus disease or disorder|Philophthalmus caused disease or disorder											DOID:0050250																		owl:Class
MONDO:0009068	biolink:NamedThing	cytochrome-c oxidase deficiency disease	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.	mondoexuq1wtf	cytochrome-C oxidase deficiency|isolated cytochrome C oxidase deficiency|mitochondrial Complex 4 deficiency|cytochrome C oxidase deficiency|Complex 4 mitochondrial respiratory chain deficiency|Cox deficiency|deficiency of mitochondrial respiratory chain complex4|isolated COX deficiency|mitochondrial complex IV deficiency|Complex IV deficiency|COX deficiency|isolated mitochondrial respiratory chain complex IV deficiency											ICD10:E88.8|Orphanet:254905|SCTID:67434000|OMIM:220110|NCIT:C98910|DOID:3762|GARD:0000048|MESH:D030401|UMLS:C0268237																		owl:Class
MONDO:0019478	biolink:NamedThing	adult nodular lymphocyte predominant Hodgkin lymphoma	A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.	mondoexuq1wtf	nodular lymphocyte predominant Hodgkin lymphoma|adult nodular lymphocyte predominant Hodgkin's disease|adult nodular lymphocyte predominant Hodgkin's lymphoma|adult NLPHD											MEDGEN:231044|UMLS:C1332210|NCIT:C7942																		owl:Class
MONDO:0020405	biolink:NamedThing	straddling and/or overriding mitral valve		mondoexuq1wtf												Orphanet:99064|ICD10:Q23.8																		owl:Class
MONDO:0022791	biolink:NamedThing	coarse face hypotonia constipation		mondoexuq1wtf	Sondheimer syndrome											GARD:0001412														https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation				owl:Class
MONDO:0003732	biolink:NamedThing	adult central nervous system mature teratoma	A central nervous system mature teratoma that occurs in an adult.	mondoexuq1wtf	adult central nervous system mature teratoma|central nervous system mature teratoma of adults											DOID:6016|NCIT:C27400|UMLS:C1332194																		owl:Class
MONDO:0003731	biolink:NamedThing	adult central nervous system teratoma	A mature or immature teratoma affecting the central nervous system and occurring in adults.	mondoexuq1wtf	teratoma of adult CNS|teratoma of the adult central nervous system|central nervous system teratoma of adults|adult CNS teratoma|teratoma of the adult CNS|adult central nervous system teratoma|teratoma of adult central nervous system|Central nervous system teratoma											DOID:6015|UMLS:C1370506|NCIT:C5794																		owl:Class
MONDO:0003604	biolink:NamedThing	functioning pituitary gland neoplasm	A hormone producing pituitary gland tumor, associated with a hormonal syndrome.	mondoexuq1wtf	pituitary gland functioning endocrine neoplasm|functioning pituitary neoplasm|somatotropinoma|hormone producing pituitary cancer|functioning pituitary tumor|pituitary neoplasms, hormone producing|functioning pituitary gland neoplasm|secretory pituitary tumor|pituitary tumors, hormone producing|hormone producing pituitary neoplasm|functioning endocrine neoplasm of pituitary gland											NCIT:C7047|SCTID:448148000|DOID:5716|UMLS:C0851693|ICD9:237.0|UMLS:C3163678																		owl:Class
MONDO:0009075	biolink:NamedThing	Dandy-Walker malformation-postaxial polydactyly syndrome	Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	mondoexuq1wtf	DWM with postaxial polydactyly|Pierquin syndrome|Dandy-Walker malformation with postaxial polydactyly											Orphanet:1566|OMIM:220220|SCTID:733094005|GARD:0001669|ICD10:Q87.8|MESH:C535771|UMLS:C1857351																		owl:Class
MONDO:0000694	biolink:NamedThing	seasonal affective disorder	A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.	mondoexuq1wtf	SADS|seasonal affective disorder|sad|winter depression											SCTID:247803002|ICD9:296.99|MESH:D016574|DOID:0060167																		owl:Class
MONDO:0004383	biolink:NamedThing	adult central nervous system germinoma	A central nervous system germinoma that occurs in an adult.	mondoexuq1wtf	germinoma of the adult central nervous system|germinoma of the adult CNS|adult CNS germinoma|germinoma of adult central nervous system|central nervous system germinoma of adults|Central nervous system germinoma|germinoma of adult CNS|adult central nervous system germinoma											NCIT:C5792|UMLS:C1370504|DOID:7867																		owl:Class
MONDO:0016509	biolink:NamedThing	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome		mondoexuq1wtf	microcornea posterior megalolenticonus persistent fetal vasculature coloboma|MPPC syndrome											UMLS:CN201521|GARD:0010938|ICD10:Q15.8|Orphanet:231736																		owl:Class
MONDO:0008095	biolink:NamedThing	nevus anemicus	A capillary vascular anomaly that is characterized by hypopigmented macules.	mondoexuq1wtf	nevus anemicus (disease)|NEVUS anemicus|Nevus anemicus|anemicus Nevus		nevus anemicus (disease)									ICD9:709.09|SCTID:40929003|OMIM:163050|HP:0025105|NCIT:C3943																		owl:Class
MONDO:0020677	biolink:NamedThing	sudden hearing loss disorder		mondoexuq1wtf												SCTID:79471008																		owl:Class
MONDO:0010251	biolink:NamedThing	intellectual disability, X-linked 50		mondoexuq1wtf	MRX50|intellectual disability, X-linked 50|mental retardation, X-linked 50											OMIM:300115|UMLS:C1848087|MESH:C564713																		owl:Class
MONDO:0022560	biolink:NamedThing	benign metastasizing leiomyoma	A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.	mondoexuq1wtf												GARD:0010776																		owl:Class
MONDO:0001463	biolink:NamedThing	splenic flexure cancer	A malignant neoplasm involving the splenic flexure of colon.	mondoexuq1wtf	malignant neoplasm of splenic flexure|Ca splenic flexure - colon|malignant splenic flexure of colon neoplasm|malignant neoplasm of splenic flexure of colon|malignant tumor of splenic flexure|splenic flexure of colon cancer|cancer of splenic flexure of colon											UMLS:C0153440|DOID:12191|ICD9:153.7|SCTID:363413005|ICD10:C18.5																		owl:Class
MONDO:0010300	biolink:NamedThing	intellectual disability, X-linked 53		mondoexuq1wtf	intellectual disability, X-linked 53|mental retardation, X-linked 53|MRX53											MESH:C564533|UMLS:C1845889|OMIM:300324																		owl:Class
MONDO:0011927	biolink:NamedThing	tufted angioma	Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.	mondoexuq1wtf	angioblastoma of Nakagawa|tufted hemangioma of skin|angioma tufted|tufted skin angioma|tufted hemangioma of the skin|tufted angioma|angioma, tufted|tufted hemangioma|tufted angioma (disease)|tufted angioma of skin|tufted angioma of the skin|Nakagawa angioblastoma		tufted angioma (disease)									OMIM:607859|ICDO:9161/0|SCTID:705155008|GARD:0000425|Orphanet:1063|UMLS:C0346073|HP:0012329|MESH:C536924|NCIT:C4487|ICD10:D18.0|ICD9:215.9																		owl:Class
MONDO:0012392	biolink:NamedThing	2-methylbutyryl-CoA dehydrogenase deficiency	A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	mondoexuq1wtf	SBCAD deficiency|2-methylbutyryl Glycinuria|2-methylbutyric aciduria|developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|short/branched-chain acyl-coA dehydrogenase deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|2-methylbutyryl-CoA dehydrogenase deficiency|butyryl-CoA dehydrogenase deficiency|short branched-chain acyl-CoA dehydrogenase deficiency											OMIM:610006|NCIT:C98863|GARD:0010322|ICD10:E71.1|MESH:C566487|UMLS:C1864912|Orphanet:79157														https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency				owl:Class
MONDO:0010464	biolink:NamedThing	X-linked cerebral-cerebellar-coloboma syndrome syndrome	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	mondoexuq1wtf	X-linked cerebral-cerebellar-coloboma syndrome|X-linked intellectual disability, Kroes type|cerebral-cerebellar-coloboma syndrome, X-linked											Orphanet:163961|UMLS:C3275487|ICD10:Q87.8|OMIM:300864																		owl:Class
MONDO:0011109	biolink:NamedThing	multiple epiphyseal dysplasia, Lowry type	Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	mondoexuq1wtf	multiple epiphyseal dysplasia with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype|epiphyseal dysplasia, multiple, with Robin phenotype											SCTID:768935003|MESH:C563291|UMLS:C1832112|ICD10:Q78.8|OMIM:601560|Orphanet:166016																		owl:Class
MONDO:0100079	biolink:NamedThing	developmental and epileptic encephalopathy, 6	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 6|DEE6|EIEE6					EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745		http://orcid.org/0000-0001-5208-3432				OMIM:607208																		owl:Class
MONDO:0004267	biolink:NamedThing	squamous papillomatosis	A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.	mondoexuq1wtf	squamous papillomatosis											NCIT:C9009|ICDO:8060/0|DOID:7532|UMLS:C1378340																		owl:Class
MONDO:0004432	biolink:NamedThing	mature pericardial teratoma	A benign teratoma that arises from the pericardium.	mondoexuq1wtf	mature pericardial teratoma|pericardium mature teratoma|mature teratoma of the pericardium|benign pericardial teratoma|mature teratoma of pericardium											DOID:8012|UMLS:C1334638|NCIT:C6744																		owl:Class
MONDO:0000809	biolink:NamedThing	purpura fulminans	A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.	mondoexuq1wtf	fibrinolytic purpura|purpura gangrenosa											EFO:1001913|MESH:D055665|SCTID:13507004|DOID:0060538|ICD10:D65																		owl:Class
MONDO:0002610	biolink:NamedThing	purpura	A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.	mondoexuq1wtf	purpura|purpuric disorder|purpura (disease)		purpura (disease)									DOID:3326|ICD10:D69.2|SCTID:387778001|MESH:D011693|UMLS:C0034150|HP:0000979																		owl:Class
MONDO:0024482	biolink:NamedThing	eccrine sweat gland hamartoma	A hamartoma characterized by localized eccrine sweat gland malformation.	mondoexuq1wtf	hamartoma of the eccrine sweat gland|eccrine sweat gland hamartoma|hamartoma of eccrine sweat gland|eccrine sweat gland hamartoma (disease)											NCIT:C5564|UMLS:C1333372																		owl:Class
MONDO:0012172	biolink:NamedThing	mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..	mondoexuq1wtf	trifunctional Protein deficiency|trifunctional Protein deficiency with myopathy and neuropathy|mitochondrial trifunctional protein deficiency|mitochondrial trifunctional PROTEIN deficiency|MTPD|TFPD|TFP deficiency											MESH:C566945|ICD10:G71.3|GARD:0003684|ICD9:277.85|OMIM:609015|DOID:0111277|Orphanet:746|SCTID:237999008|NCIT:C98991														https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency				owl:Class
MONDO:0003079	biolink:NamedThing	mastocytoma	A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.	mondoexuq1wtf	mastocytoma											NCIT:C9303|UMLS:C0024897|SCTID:404171008|ICD9:238.5|ICDO:9740/1																		owl:Class
MONDO:0002724	biolink:NamedThing	mast cell neoplasm	A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)	mondoexuq1wtf	tumor of the Mast cells|mast cell neoplasm|Mast cell proliferative disease|neoplasm of the Mast cells|neoplasm of Mast cells|Mast cell tumor|tumor of Mast cells|mast cell tumor											SCTID:414653009|EFO:0009000|NCIT:C9295|UMLS:C0334664|ICD10:D47.0|DOID:3664|ICD9:238.79																		owl:Class
MONDO:0014110	biolink:NamedThing	cataract 15 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.	mondoexuq1wtf	MIP early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in MIP|cataract 15, multiple types|CTRCT15											OMIM:615274|UMLS:C3809001|ICD10:Q12.0|DOID:0110251																		owl:Class
MONDO:0019775	biolink:NamedThing	Chudley-Lowry-Hoar syndrome	Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).	mondoexuq1wtf	mental retardation-hypotonic facies syndrome X-linked, 1|Chudley intellectual disability syndrome|Chudley Lowry Hoar syndrome|Smith Fineman Myers syndrome 1|Chudley-Lowry syndrome|SFM1|intellectual disability-hypotonic facies syndrome X-linked, 1|Chudley syndrome 1|Chudley mental retardation syndrome											GARD:0001357|SCTID:717763008|UMLS:CN206716|Orphanet:93971																		owl:Class
MONDO:0010663	biolink:NamedThing	X-linked intellectual disability-hypotonic face syndrome	Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.	mondoexuq1wtf	JMS|Juberg-Marsidi syndrome|intellectual disability-hypotonic facies syndrome, X-linked, type 1|Juberg Marsidi syndrome|intellectual disability-hypotonic facies syndrome, X-linked, 1|mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|X-linked hypogonadism gynecomastia intellectual disability|Juberg-Marsidi mental retardation syndrome|Carpenter-Waziri syndrome|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|mental retardation-hypotonic facies syndrome, X-linked, 1|Smith-Fineman-Myers syndrome 1|Chudley-Lowry syndrome|Holmes-Gang syndrome|mental retardation-hypotonic facies syndrome, X-linked, type 1|X-linked hypogonadism gynecomastia mental retardation|sfms|XLMR-hypotonic facies syndrome|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|MRXHF1											GARD:0000081|OMIM:309580|Orphanet:73220|UMLS:CN205653																		owl:Class
MONDO:0007848	biolink:NamedThing	autosomal dominant keratitis	Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.	mondoexuq1wtf	dominantly inherited keratitis|keratitis, autosomal dominant|hereditary keratitis|keratitis, hereditary											ICD10:H16.8|SCTID:715339004|Orphanet:2334|DOID:0111383|UMLS:C1835698|GARD:0003089|UMLS:C4017065|MESH:C537022|UMLS:CN068649|OMIM:148190																		owl:Class
MONDO:0013965	biolink:NamedThing	lethal congenital contracture syndrome 4	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.	mondoexuq1wtf	lethal congenital contracture syndrome type 4|lethal congenital contracture syndrome 4|LCCS4|MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in MYBPC1											GARD:0012645|DOID:0060654|UMLS:C3554046|OMIM:614915														https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4				owl:Class
MONDO:0008969	biolink:NamedThing	cholesterol pneumonia		mondoexuq1wtf	familiaere cholesterin-Pneumonie|cholesterol pneumonia											UMLS:C0549472|SCTID:233728004|ICD9:516.8|OMIM:215030|MESH:C535937|GARD:0008500														https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia				owl:Class
MONDO:0017037	biolink:NamedThing	secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease		mondoexuq1wtf	secondary ILD in childhood and adulthood associated with a metabolic disease											Orphanet:264968|UMLS:CN202348																		owl:Class
MONDO:0032938	biolink:NamedThing	basal ganglia calcification, idiopathic, 8, autosomal recessive		mondoexuq1wtf	IBGC8|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE											OMIM:618824																		owl:Class
MONDO:0019157	biolink:NamedThing	acquired idiopathic sideroblastic anemia	Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.	mondoexuq1wtf	myelodysplastic syndrome with Ring sideroblasts|refractory Anemia with ringed sideroblasts|refractory anemia with ringed sideroblasts|refractory Anemia with Ring sideroblasts|RARS|MDS-RS|primary acquired sideroblastic anemia|AISA|Pure sideroblastic Anemia										MONDO:0005274	Orphanet:75564|ICD10:D64.3|EFO:0003812|ICDO:9982/3|SCTID:109998009|ICD9:238.72|NCIT:C4036																		owl:Class
MONDO:0004409	biolink:NamedThing	nipple duct carcinoma	A carcinoma that develops in the ducts of the nipple.	mondoexuq1wtf	nipple duct carcinoma											DOID:7953|NCIT:C27234|UMLS:C1334967																		owl:Class
MONDO:0012926	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A2	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.	mondoexuq1wtf	amelogenesis imperfecta, pigmented hypomaturation type, 2|MMP20 amelogenesis imperfecta|AI2A2|amelogenesis imperfecta type IIA2|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta caused by mutation in MMP20|amelogenesis imperfecta pigmented hypomaturation type 2|amelogenesis imperfecta hypomaturation type IIA2											DOID:0110060|MESH:C567279|ICD10:K00.5|OMIM:612529|UMLS:C2675858																		owl:Class
MONDO:0600023	biolink:NamedThing	idiopathic inflammatory myopathy	Idiopathic form of inflammatory myopathy.	mondoexuq1wtf	idiopathic myositis							http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0002864	biolink:NamedThing	anus rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.	mondoexuq1wtf	anal rhabdomyosarcoma|anus rhabdomyosarcoma (disease)|rhabdomyosarcoma of anus|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of the anus											NCIT:C5610|DOID:4066|UMLS:C1332276																		owl:Class
MONDO:0009233	biolink:NamedThing	Fibulo-ulnar hypoplasia-renal anomalies syndrome	Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	Fibulo ulnar hypoplasia renal anomalies|FIBULOULNAR aplasia or hypoplasia with renal abnormalities|Saito Kuba Tsuruta syndrome|Saito-Kuba-Tsuruta syndrome											OMIM:228940|GARD:0000320|Orphanet:2256|UMLS:C1856727|MESH:C537226|ICD10:Q87.8|SCTID:716094008																		owl:Class
MONDO:0009018	biolink:NamedThing	central cloudy dystrophy of François	Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.	mondoexuq1wtf	central cloudy dystrophy of François|central cloudy corneal dystrophy of François|central cloudy dystrophy of Francois|corneal dystrophy, central type|CCDF											UMLS:C1622427|OMIM:217600|Orphanet:98972|ICD10:H18.5|MESH:C563262|SCTID:419074008																		owl:Class
MONDO:0015845	biolink:NamedThing	uterine cervical aplasia and agenesis		mondoexuq1wtf												Orphanet:180145|ICD10:Q51.5																		owl:Class
MONDO:0006162	biolink:NamedThing	colorectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	colorectum NET G1|colorectal carcinoid tumor|colorectal neuroendocrine tumor G1|large intestinal neuroendocrine tumor G1|colorectum neuroendocrine neoplasm G1|colorectum carcinoid tumor|colorectum neuroendocrine tumor, well differentiated, low grade|colorectal NET G1|grade 1 neuroendocrine neoplasm of colorectum											UMLS:C3272611|NCIT:C96160|EFO:1000195																		owl:Class
MONDO:0019988	biolink:NamedThing	pauci-immune glomerulonephritis with ANCA	Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.	mondoexuq1wtf	pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody											UMLS:CN206923|Orphanet:97563|ICD10:N05.7																		owl:Class
MONDO:0017932	biolink:NamedThing	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome		mondoexuq1wtf												UMLS:CN204070|Orphanet:324416																		owl:Class
MONDO:0016809	biolink:NamedThing	spinocerebellar ataxia with epilepsy		mondoexuq1wtf	mitochondrial spinocerebellar ataxia with epilepsy|MSCAE|SCAE											UMLS:CN202060|Orphanet:254881|UMLS:C1843852																		owl:Class
MONDO:0009090	biolink:NamedThing	deafness, sensorineural, autosomal-mitochondrial type		mondoexuq1wtf	deafness, sensorineural, autosomal-mitochondrial type											OMIM:221745|DOID:0111752|MESH:C565637																		owl:Class
MONDO:0020147	biolink:NamedThing	anophthalmia-microphthalmia syndrome		mondoexuq1wtf												Orphanet:98555|ICD10:Q11.2|ICD10:Q11.0|UMLS:CN120488|ICD10:Q11.1																		owl:Class
MONDO:0016429	biolink:NamedThing	Marburg acute multiple sclerosis	Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.	mondoexuq1wtf	acute multiple sclerosis, Marburg variant|acute multiple sclerosis, Marburg type											SCTID:766246000|Orphanet:228157																		owl:Class
MONDO:0022843	biolink:NamedThing	congenital mumps		mondoexuq1wtf												GARD:0001498														https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps				owl:Class
MONDO:0005399	biolink:NamedThing	venous thromboembolism	Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.	mondoexuq1wtf	venous thromboembolism											EFO:0004286|NCIT:C99537|UMLS:C1861172|MESH:D054556																		owl:Class
MONDO:0021218	biolink:NamedThing	placenta neoplasm	A neoplasm (disease) that involves the placenta.	mondoexuq1wtf	tumor of the placenta|placental tumors|placental tumor|placental neoplasm|placenta tumors|neoplasm of the placenta|tumor of placenta|trophoblastic tumor placental site|placenta neoplasms|placenta neoplasm (disease)|placenta tumor|neoplasm of placenta											NCIT:C4858|GARD:0007403																		owl:Class
MONDO:0015067	biolink:NamedThing	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.	mondoexuq1wtf	NET of the colon|carcinoid tumor of colon|colon neuroendocrine tumor|colonic NET|neuroendocrine neoplasm of the colon											NCIT:C135212																		owl:Class
MONDO:0016835	biolink:NamedThing	14q11.2 microduplication syndrome	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	mondoexuq1wtf	dup(14)(q11.2)|trisomy 14q11.2											ICD10:Q92.3|Orphanet:261229|UMLS:CN202171																		owl:Class
MONDO:0002641	biolink:NamedThing	subclavian artery aneurysm	A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.	mondoexuq1wtf						Editor note: consider moving to HPO						DOID:342|COHD:432335|UMLS:C0155746|ICD9:442.82|SCTID:40136003																		owl:Class
MONDO:0016733	biolink:NamedThing	ganglioglioma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)	mondoexuq1wtf	CNS ganglioglioma|ganglioglioma|adult ganglioglioma|childhood ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components											MedDRA:10017701|GARD:0002430|NCIT:C3788|MESH:D018303|SCTID:87191000119100|Orphanet:251949|DOID:5078|EFO:0003094|ICDO:9505/1|ONCOTREE:GNG|UMLS:C0206716														https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma				owl:Class
MONDO:0100095	biolink:NamedThing	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.	mondoexuq1wtf	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures|CONDSIAS							http://orcid.org/0000-0001-5208-3432			MONDO:0032576	DOID:0070352|OMIM:618170																		owl:Class
MONDO:0010840	biolink:NamedThing	pachygyria-intellectual disability-epilepsy syndrome	Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.	mondoexuq1wtf	pachygyria, intellectual disability and epilepsy|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability and seizures|Kuzniecky syndrome|pachygyria with mental retardation and seizures|pachygyria, mental retardation and epilepsy											Orphanet:2798|ICD10:G40.4|OMIM:600176|SCTID:763861000|UMLS:C1838491|MESH:C538091|GARD:0000409																		owl:Class
MONDO:0018823	biolink:NamedThing	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		mondoexuq1wtf												Orphanet:480907|UMLS:CN776924																		owl:Class
MONDO:0001653	biolink:NamedThing	prepuce cancer	A malignant neoplasm involving the prepuce.	mondoexuq1wtf	malignant prepuce neoplasm|prepuce cancer|malignant tumor of foreskin|cancer of prepuce|malignant neoplasm of foreskin|malignant neoplasm of prepuce											ICD9:187.1|UMLS:C0153598|SCTID:363450006|ICD10:C60.0|DOID:13168																		owl:Class
MONDO:0018553	biolink:NamedThing	urachal diverticulum	Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.	mondoexuq1wtf	Vesicourachal diverticulum											SCTID:253899000|Orphanet:431347|ICD10:Q64.4|NCIT:C123254|UMLS:CN237554																		owl:Class
MONDO:0032851	biolink:NamedThing	intellectual developmental disorder with impaired language and dysmorphic facies		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES|IDDILF											OMIM:618653																		owl:Class
MONDO:0022606	biolink:NamedThing	branchial arch disease	A disease that involves the pharyngeal system development.	mondoexuq1wtf	pharyngeal system development disease|disease of pharyngeal system development|disorder of pharyngeal system development											GARD:0001001																		owl:Class
MONDO:0012309	biolink:NamedThing	parietal foramina 2	Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.	mondoexuq1wtf	parietal foramina type 2|ALX4 parietal foramina|parietal foramina caused by mutation in ALX4|parietal foramina 2|PFM2											UMLS:C1865044|OMIM:609597|MESH:C566510																		owl:Class
MONDO:0020714	biolink:NamedThing	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy		mondoexuq1wtf												OMIM:251900																		owl:Class
MONDO:0060631	biolink:NamedThing	Alkuraya-Kucinskas syndrome		mondoexuq1wtf	Alkuraya-Kucinskas syndrome|ALKKUCS											OMIM:617822|DOID:0111555|UMLS:CN737163																		owl:Class
MONDO:0017134	biolink:NamedThing	odonto-onycho dysplasia-alopecia syndrome	Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	odonto onycho dysplasia with alopecia											UMLS:CN202534|GARD:0004051|Orphanet:2722																		owl:Class
MONDO:0019869	biolink:NamedThing	mosaic trisomy 22	Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.	mondoexuq1wtf	Mosaic trisomy chromosome 22|trisomy 22 mosaicism|Mosaic trisomy type 22											GARD:0006085|Orphanet:96068|SCTID:764625002|MESH:C536796|ICD10:Q92.1														https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22				owl:Class
MONDO:0006537	biolink:NamedThing	conjunctival pigmentation	Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.	mondoexuq1wtf												SCTID:66081003|DOID:12304|EFO:1000682|COHD:381014|ICD9:372.55|ICD10:H11.13|UMLS:C0155163																		owl:Class
MONDO:0001331	biolink:NamedThing	conjunctival deposit		mondoexuq1wtf												ICD10:H11.11|SCTID:62660000|UMLS:C0162280|DOID:11653|ICD9:372.56																		owl:Class
MONDO:0011315	biolink:NamedThing	Osebold skeletal dysplasia/osteolysis syndrome		mondoexuq1wtf	Osebold skeletal dysplasia/osteolysis syndrome											UMLS:C1863922|MESH:C566380|OMIM:603389																		owl:Class
MONDO:0012223	biolink:NamedThing	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate		mondoexuq1wtf	Marie Unna-like scalp hypotrichosis|hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate											UMLS:C1836521|MESH:C563765|OMIM:609250																		owl:Class
MONDO:0006346	biolink:NamedThing	pancreatic acinar cell carcinoma	An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.	mondoexuq1wtf	PAAC|Pancreatic acinar cell cancer|acinar cell adenocarcinoma of pancreas|pancreatic acinar cell carcinoma|pancreas acinar cell adenocarcinoma|acinar cell carcinoma of pancreas|carcinoma of pancreatic acinar cell|acinar cell adenocarcinoma of the pancreas|acinar cell carcinoma of the pancreas|pancreatic acinar cell adenocarcinoma											Orphanet:424046|NCIT:C7977|UMLS:C0279661|ICD10:C25.7|ICD10:C25.2|DOID:5742|ONCOTREE:PAAC|EFO:1000439|ICD10:C25.1|ICD10:C25.8|ICD10:C25.0																		owl:Class
MONDO:0019860	biolink:NamedThing	thyroid hemiagenesis	Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	mondoexuq1wtf												ICD10:E03.1|UMLS:C4023190|SCTID:715734006|Orphanet:95719																		owl:Class
MONDO:0011975	biolink:NamedThing	paternal uniparental disomy of chromosome 14		mondoexuq1wtf	KAGAMI-Ogata syndrome|paternal uniparental disomy 14|paternal uniparental disomy of chromosome type 14|UPD(14)pat|uniparental disomy, paternal, chromosome 14											MESH:C536471|Orphanet:96334|GARD:0005409|OMIM:608149|ICD10:Q99.8|UMLS:C1842466														https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14				owl:Class
MONDO:0013770	biolink:NamedThing	atrial septal defect 9	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.	mondoexuq1wtf	GATA6 atrial heart septal defect|atrial heart septal defect type 9|atrial septal defect 9|atrial heart septal defect caused by mutation in GATA6|ASD9|atrial septal defect type 9											UMLS:C3280943|OMIM:614475|ICD10:Q21.1|DOID:0110114																		owl:Class
MONDO:0001177	biolink:NamedThing	anorectal stricture		mondoexuq1wtf	stenosis of rectum and anus											SCTID:197216007|ICD10:K62.4|DOID:11014|ICD9:569.2|COHD:200773																		owl:Class
MONDO:0043193	biolink:NamedThing	richieri-costa guion-almeida cohen syndrome		mondoexuq1wtf	overgrowth - craniosynostosis - arthrogryposis|Richieri-costa Guion-Almeida Cohen syndrome|Richieri Costa Guion-Almeida dwarfism|acrofacial dysostosis Richieri Costa Guion-Almeida type											MESH:C535676|GARD:0004712|UMLS:C2930979																		owl:Class
MONDO:0012325	biolink:NamedThing	Nguyen syndrome		mondoexuq1wtf	MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|Nguyen syndrome											OMIM:609643|UMLS:C1864823|GARD:0009754|MESH:C536115														https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome				owl:Class
MONDO:0054782	biolink:NamedThing	leukodystrophy, hypomyelinating, 15		mondoexuq1wtf	leukodystrophy, hypomyelinating, 15|HLD15											UMLS:CN244566|OMIM:617951																		owl:Class
MONDO:0014707	biolink:NamedThing	14q32 duplication syndrome	14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.	mondoexuq1wtf	myeloproliferative neoplasms, familial, susceptibility to|chromosome 14q32 DUPLICATION syndrome, 700-KB|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|dup(14)q(32)|trisomy 14q32											Orphanet:488280|UMLS:C4225449|OMIM:616604																		owl:Class
MONDO:0001639	biolink:NamedThing	deficiency anemia		mondoexuq1wtf	unspecified deficiency anemia|deficiency anemias											DOID:13121|ICD9:281.8|ICD9:281.9|UMLS:C0041782|SCTID:267513007																		owl:Class
MONDO:0020521	biolink:NamedThing	Ehlers-Danlos syndrome type 7A		mondoexuq1wtf	EDS VIIA											Orphanet:99875|ICD10:Q79.6|UMLS:CN207418																		owl:Class
MONDO:0007525	biolink:NamedThing	Ehlers-Danlos syndrome, arthrochalasis type	Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.	mondoexuq1wtf	AEDS|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|arthrochalasia EDS|Ehlers-Danlos syndrome, arthrochalasia type|EDS VII|Ehlers-Danlos syndrome type 7|arthrochalasis multiplex congenita|EDS7A (formerly)|EDS 7B|Ehlers-Danlos syndrome type 7A (formerly)|EDSARTH1|EDS 7A|Ehlers-Danlos syndrome, arthrochalasia type, 1|Ehlers-Danlos syndrome, type VII, autosomal dominant|EDS VII, mutant procollagen type											MESH:C562625|Orphanet:1899|UMLS:CN200649|ICD10:Q79.6|OMIM:130060|GARD:0002084|SCTID:4170004|NCIT:C125701														https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome				owl:Class
MONDO:0011737	biolink:NamedThing	parkinson disease 10		mondoexuq1wtf	Parkinson disease, Age at onset of|Parkinson disease 10|PARK10											MESH:C564653|UMLS:C1847360|OMIM:606852																		owl:Class
MONDO:0006435	biolink:NamedThing	submandibular gland adenocarcinoma	An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.	mondoexuq1wtf	adenocarcinoma of the submandibular gland|submandibular gland adenocarcinoma|adenocarcinoma of submandibular gland											UMLS:C1336521|EFO:1000554|NCIT:C5940																		owl:Class
MONDO:0004847	biolink:NamedThing	senile cataract	A cataract with no obvious cause occurring in persons over 50 years old.	mondoexuq1wtf												DOID:9669|ICD10:H25|SCTID:39450006|ICD9:366.10|NCIT:C35012|ICD9:366.1																		owl:Class
MONDO:0008138	biolink:NamedThing	syndromic orbital border hypoplasia	Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	mondoexuq1wtf	orbital margin, hypoplasia OF|Urrets-Zavalia syndrome											SCTID:717337001|Orphanet:98606|UMLS:C4273912|MESH:C563490|OMIM:165600|UMLS:C1833795																		owl:Class
MONDO:0041959	biolink:NamedThing	fibrosis of bile duct		mondoexuq1wtf	fibrosis of bile duct|biliary sclerosis|biliary duct fibrosis											UMLS:C0520571|SCTID:48124008																		owl:Class
MONDO:0016414	biolink:NamedThing	hypotrichosis-intellectual disability, Lopes type	Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.	mondoexuq1wtf	Lopes-Marques de Faria syndrome											UMLS:CN201347|Orphanet:2266																		owl:Class
MONDO:0006270	biolink:NamedThing	lobular breast carcinoma in situ	A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.	mondoexuq1wtf	breast lobular carcinoma in situ|non-invasive lobular breast carcinoma|lobular Ca in situ of the breast|lobular carcinoma in situ of the breast (LCIS)|non-infiltrating lobular breast carcinoma|non-infiltrating lobular carcinoma of breast|non-infiltrating lobular carcinoma|lobular carcinoma in situ of the breast|lobular Ca in situ of breast|lobular carcinoma in situ of breast|non-infiltrating lobular carcinoma of the breast|non-invasive lobular carcinoma of breast|lobular carcinoma in situ|LCIS|non-invasive lobular carcinoma of the breast|lobular breast carcinoma in situ|lobular carcinoma in situ (LCIS)											ONCOTREE:LCIS|SCTID:109888004|EFO:1000326|UMLS:C0334381|ICDO:8520/2|UMLS:C0279563|NCIT:C4018																		owl:Class
MONDO:0002486	biolink:NamedThing	lobular neoplasia	A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.	mondoexuq1wtf	lobular intraepithelial neoplasia|LN|LIN|lobular neoplasia											UMLS:C0861352|NCIT:C27939|DOID:3010																		owl:Class
MONDO:0003477	biolink:NamedThing	brain stem ependymoma	An ependymoma that arises from the brain stem.	mondoexuq1wtf	brainstem ependymoma|ependymoma of brainstem|ependymoma of the brain stem|brain stem ependymoma|ependymoma of the brainstem|ependymoma of brain stem											UMLS:C1332609|DOID:5508|NCIT:C5098																		owl:Class
MONDO:0040753	biolink:NamedThing	inactive tuberculosis		mondoexuq1wtf	tuberculosis infection latent|inactive tuberculosis											MESH:D055985|SCTID:11999007|UMLS:C1609538																		owl:Class
MONDO:0043836	biolink:NamedThing	tuberculosis, spinal	Tuberculosis of the vertebrae.	mondoexuq1wtf	spinal Tuberculoses|Potts disease|spinal tuberculosis|tuberculosis of vertebral column - pott's|tuberculosis of spine (pott's)|tuberculous spondylitis|pott's disease|pott's paraplegia|disease, pott's|tuberculosis of vertebral column|Tuberculoses, spinal|disease, pott|pott disease											NCIT:C35087|MESH:D014399|SCTID:35984006																		owl:Class
MONDO:0008093	biolink:NamedThing	nevus, epidermal	A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.	mondoexuq1wtf	Epidermal Nevus|nonepidermolytic keratinocytic nevus|Nevus, woolly hair|Nevus, Keratinocytic, nonepidermolytic|nevus, epidermal|Nevus sebaceous											NCIT:C4088|DOID:0111162|MESH:C580062|OMIM:162900|GARD:0013025																		owl:Class
MONDO:0012770	biolink:NamedThing	prostate cancer, hereditary, 15		mondoexuq1wtf	prostate cancer, hereditary, 15|HPC15											UMLS:C2677771|MESH:C567447|OMIM:611959																		owl:Class
MONDO:0013025	biolink:NamedThing	chromosome 6q24-q25 deletion syndrome	6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	mondoexuq1wtf	monosomy 6q25|chromosome 6q25 microdeletion syndrome|del(6q25)|6q25 microdeletion syndrome|chromosome 6q24-q25 deletion syndrome|Del(6)(q25)|deletion 6q25											NCIT:C36470|GARD:0003764|UMLS:C4304527|SCTID:719663005|Orphanet:251056|UMLS:C3150215|OMIM:612863|DOID:0060424|ICD10:Q93.5																		owl:Class
MONDO:0008130	biolink:NamedThing	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome		mondoexuq1wtf	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome|Levic-Stefanovic-Nikolic syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic Stefanovic Nikolic syndrome											MESH:C563498|UMLS:C1833835|OMIM:165150|Orphanet:2743|GARD:0003236														https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome				owl:Class
MONDO:0015434	biolink:NamedThing	ring chromosome 18	Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.	mondoexuq1wtf	Ring chromosome type 18|R18|Ring 18|Ring chromosome 18 syndrome|chromosome 18 ring											EFO:0001226|UMLS:C0265475|SCTID:88154004|ICD10:Q93.2|Orphanet:1442|GARD:0006077|MESH:C538304														https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18				owl:Class
MONDO:0006880	biolink:NamedThing	oral leukoedema	A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)	mondoexuq1wtf	leukedema of mouth											MESH:D007967|ICD9:528.79|EFO:1001075|UMLS:C0023523|MedDRA:10057365|SCTID:67795000|DOID:4557																		owl:Class
MONDO:0030878	biolink:NamedThing	Kaya-Barakat-Masson syndrome		mondoexuq1wtf	KABAMAS											OMIM:619125																		owl:Class
MONDO:0010637	biolink:NamedThing	keratosis follicularis spinulosa decalvans, X-linked		mondoexuq1wtf	keratosis follicularis spinulosa decalvans|keratosis follicularis spinulosa decalvans, X-linked|keratosis follicularis SPINULOSA decalvans, X-linked|keratosis follicularis spinulosa decalvans cum ophiasi|KFSDX|keratosis follicularis Spinulosa decalvans cum Ophiasi|Kfsdx											UMLS:C3887525|MESH:C536159|OMIM:308800																		owl:Class
MONDO:0008957	biolink:NamedThing	cervical vertebrae, agenesis of		mondoexuq1wtf	cervical vertebrae, agenesis of											MESH:C562952|OMIM:214290																		owl:Class
MONDO:0011549	biolink:NamedThing	hypotrichosis 1	Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.	mondoexuq1wtf	HTS|hereditary generalized hypotrichosis simplex|HYPT1|hypotrichosis 1|hypotrichosis caused by mutation in APCDD1|hypotrichosis simplex, generalized, hereditary|APCDD1 hypotrichosis|hypotrichosis type 1|HHS											DOID:0110698|OMIM:605389																		owl:Class
MONDO:0033047	biolink:NamedThing	Perrault syndrome 6		mondoexuq1wtf	Perrault syndrome 6|PRLTS6											DOID:0080256|OMIM:617565|UMLS:C4479656																		owl:Class
MONDO:0001992	biolink:NamedThing	rete testis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the rete testis	mondoexuq1wtf	adenocarcinoma of the rete testis|rete testis adenocarcinoma|adenocarcinoma of rete testis|carcinoma, rete testis, malignant											NCIT:C8955|UMLS:C0863024|DOID:14544																		owl:Class
MONDO:0100078	biolink:NamedThing	resistant hypertension	A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.	mondoexuq1wtf	drug resistant hypertension																													owl:Class
PO:0009001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CARO_0000000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002505	biolink:NamedThing	childhood astrocytic tumor	An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.	mondoexuq1wtf	astrocytic tumors, childhood|pediatric astrocytic tumor|juvenile astrocytoma|astrocytic tumor of childhood|astrocytic tumor|childhood astrocytic tumor|childhood astrocytic tumour|childhood astrocytic neoplasm|pediatric astrocytic neoplasm|juvenile astrocytoma (morphologic abnormality)|pediatric astrocytoma											NCIT:C9022|DOID:3079|UMLS:C1321865																		owl:Class
MONDO:0001990	biolink:NamedThing	malignant cardiac peripheral nerve sheath neoplasm	A very rare malignant peripheral nerve sheath tumor that arises from the heart.	mondoexuq1wtf	Cardiac MPNST|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|malignant peripheral nerve sheath tumor of the heart|heart MPNST|CARDIAC schwannoma, malignant|malignant Cardiac schwannoma|malignant peripheral nerve sheath neoplasm of the heart|malignant schwannoma of the heart|malignant heart neurilemmoma|malignant heart schwannoma|malignant Cardiac neurilemmoma|Cardiac malignant peripheral nerve sheath tumor|malignant schwannoma of heart|MPNST of the heart|malignant neurilemmoma of heart|malignant peripheral nerve sheath tumor of heart|malignant peripheral nerve sheath neoplasm of heart|malignant Cardiac peripheral nerve sheath neoplasm|malignant Cardiac peripheral nerve sheath tumor|malignant neurilemmoma of the heart|MPNST of heart											DOID:14534|NCIT:C5367|UMLS:C1334569																		owl:Class
MONDO:0012800	biolink:NamedThing	trichoepithelioma, multiple familial, 2		mondoexuq1wtf	trichoepithelioma multiple familial 2|trichoepithelioma, multiple familial, 2|multiple familial trichoepithelioma 2|trichoepithelioma, multiple familial, type 2|Mft2											MESH:C567418|UMLS:C2677505|OMIM:612099|GARD:0010373														https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2				owl:Class
MONDO:0025505	biolink:NamedThing	mink viral enteritis	A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.	mondoexuq1wtf	enteritides, mink viral|mink viral enteritides|enteritis, infectious, of mink|viral enteritides, mink|enteritis, mink viral|viral enteritis, mink											MESH:D053489|UMLS:C1720999																		owl:Class
MONDO:0009268	biolink:NamedThing	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.	mondoexuq1wtf	cardiovascular Gaucher disease|pseudo Gaucher disease|Gaucher disease, type IIIC|Gaucher disease, type 3C|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher-like disease|Gaucher disease type 3C											UMLS:C1856476|OMIM:231005|GARD:0012504|UMLS:C2931585|Orphanet:2072|ICD10:E75.2|MESH:C565553|GARD:0002445																		owl:Class
MONDO:0009158	biolink:NamedThing	Ehlers-Danlos syndrome, fibronectinemic type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.	mondoexuq1wtf	Ehlers-Danlos syndrome, fibronectin-deficient|Ehlers-Danlos syndrome, type 10|FN Abnormality|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, type X (formerly)|EDS 10|Ehlers-Danlos syndrome type 10 (formerly)|EDS10 (formerly)|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality|EDS X|Ehlers-Danlos syndrome, dysfibronectinemic type											GARD:0008508|OMIM:225310|Orphanet:75501|ICD10:Q79.6|SCTID:83586000|MESH:C565600																		owl:Class
MONDO:0017301	biolink:NamedThing	pericardial and diaphragmatic defect	Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.	mondoexuq1wtf												Orphanet:2847																		owl:Class
MONDO:0021777	biolink:NamedThing	acute rheumatic heart disease	Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).	mondoexuq1wtf	Active rheumatic fever with heart involvement|acute rheumatic carditis|acute rheumatic heart disease|acute rheumatic fever with heart involvement|acute Rheumatic Heart Disease|active rheumatic fever with heart involvement											NCIT:C34985|ICD9:391.9|ICD9:391.8|SCTID:312591002|UMLS:C0035440																		owl:Class
MONDO:0032661	biolink:NamedThing	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA|NEDIDHA											OMIM:618292																		owl:Class
MONDO:0015137	biolink:NamedThing	periodic fever syndrome	Fevers of unknown etiology recurring over months or years.	mondoexuq1wtf												MedDRA:10034533|ICD10:E85.0|NCIT:C118240|Orphanet:101995|UMLS:C0015974|UMLS:C3889979																		owl:Class
MONDO:0015777	biolink:NamedThing	adult hypothyroidism	A hypothyroidism that occurs in an adult.	mondoexuq1wtf	rare adult hypothyroidism											Orphanet:177101|UMLS:CN226738														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0004484	biolink:NamedThing	gallbladder melanoma	A melanoma that arises from the gallbladder.	mondoexuq1wtf	melanoma (disease) of gall bladder|melanoma of the gallbladder|gall bladder melanoma|gallbladder melanoma|melanoma of gallbladder|gall bladder melanoma (disease)|malignant melanoma of gallbladder|gallbladder malignant melanoma|malignant melanoma of the gallbladder											DOID:8167|NCIT:C5735|UMLS:C1333749																		owl:Class
MONDO:0009273	biolink:NamedThing	hydatidiform mole, recurrent, 1	Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.	mondoexuq1wtf	hydatidiform mole, recurrent, 1|hydatidiform mole|NLRP7 complete hydatidiform mole|hydatidiform Mole, complete|HYDM1|gestational trophoblastic disease|complete hydatidiform mole caused by mutation in NLRP7|hydatidiform Mole, recurrent, type 1|hydatidiform MOLE, recurrent, 1											UMLS:C3463897|OMIM:231090																		owl:Class
MONDO:0008466	biolink:NamedThing	Karsch-Neugebauer syndrome	Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	mondoexuq1wtf	split hand/split foot-nystagmus syndrome|split hand nystagmus syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts|Karsch-Neugebauer syndrome|Nystagmus-split hand syndrome|split hand split foot nystagmus|KNS											Orphanet:2329|OMIM:183800|SCTID:722032005|MESH:C537319|GARD:0004967|UMLS:C1866740|ICD10:Q87.2																		owl:Class
MONDO:0020512	biolink:NamedThing	precursor T-cell acute lymphoblastic leukemia		mondoexuq1wtf	precursor T-cell acute lymphocytic leukemia|T-ALL|precursor T-cell acute lymphoblastic leukemia/lymphoma|precursor T-cell acute lymphocytic leukemia/lymphoma											Orphanet:99861|ICD10:C91.0																		owl:Class
MONDO:0015073	biolink:NamedThing	gallbladder neuroendocrine tumor, grade 1/2	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.	mondoexuq1wtf	gallbladder NET|gallbladder neuroendocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder well differentiated endocrine tumor											UMLS:CN197366|ICD10:C23|NCIT:C96918|UMLS:C3273116|Orphanet:100086																		owl:Class
MONDO:0012236	biolink:NamedThing	keratoconus 4		mondoexuq1wtf	keratoconus 4|KTCN4											UMLS:C1836473|OMIM:609271|MESH:C563752																		owl:Class
MONDO:0045037	biolink:NamedThing	hyalohyphomycosis	An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.	mondoexuq1wtf	hyalohyphomycosis											UMLS:C0343952|SCTID:240773008|MESH:D060605																		owl:Class
MONDO:0003460	biolink:NamedThing	clear cell adenofibroma	A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.	mondoexuq1wtf	clear cell adenofibroma (morphologic abnormality)|clear cell adenofibroma											ICDO:8313/0|DOID:5477|NCIT:C8987																		owl:Class
MONDO:0022975	biolink:NamedThing	diaphragmatic agenesis radial aplasia omphalocele		mondoexuq1wtf												GARD:0001843														https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele				owl:Class
MONDO:0011608	biolink:NamedThing	atopic dermatitis 5	An atopic dermatitis associated with variation in the region 13q12-q14.	mondoexuq1wtf	ATOD5|dermatitis, ATOPIC, 5|atopic dermatitis type 5											UMLS:C1853900|MESH:C565280|OMIM:605844|DOID:0110101																		owl:Class
MONDO:0019560	biolink:NamedThing	lupus erythematosus tumidus	Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.	mondoexuq1wtf	let|intermittent cutaneous lupus|tumid lupus erythematosus											ICD10:L93.2|SCTID:200941006|Orphanet:90283|NCIT:C117112|GARD:0013003|UMLS:C0406636														https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus				owl:Class
MONDO:0019316	biolink:NamedThing	maculopapular cutaneous mastocytosis	Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.	mondoexuq1wtf	telangiectasia macularis eruptive perstans|urticaria pigmentosa/maculopapular cutaneous mastocytosis|UP/MPCM|telangiectatic cutaneous mastocytosis|Paucicellular mastocytosis|urticaria pigmentosa											NCIT:C3433|ICD9:708.8|ICD10:Q82.2|Orphanet:79457|ICDO:9740/1|SCTID:78745000|MedDRA:10046752|UMLS:C0042111|DOID:12309|GARD:0013079																		owl:Class
MONDO:0020277	biolink:NamedThing	ectodermal malformation syndrome associated with ocular features		mondoexuq1wtf												UMLS:CN207080|Orphanet:98709														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0012225	biolink:NamedThing	Senior-Loken syndrome 5	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.	mondoexuq1wtf	SLSN5|Senior-Loken syndrome 5|SENIOR-Loken syndrome 5|Senior-Loken syndrome caused by mutation in IQCB1|Senior-Loken syndrome type 5|IQCB1 Senior-Loken syndrome											OMIM:609254|MESH:C563763|UMLS:C1836517																		owl:Class
MONDO:0009682	biolink:NamedThing	muscular dystrophy, congenital, with rapid progression		mondoexuq1wtf	muscular dystrophy, congenital, with rapid progression											OMIM:254100|UMLS:C1850840|MESH:C564983																		owl:Class
MONDO:0003072	biolink:NamedThing	retinal cancer	A malignant neoplasm involving the retina.	mondoexuq1wtf	malignant neoplasm of retina|cancer of retina|malignant tumor of the retina|malignant retina neoplasm|malignant retinal neoplasm|retina cancer|malignant neoplasm of the retina|retinal tumor|malignant retinal tumor|malignant retina tumor|malignant tumor of retina											EFO:0005716|SCTID:363465007|NCIT:C3216|ICD10:C69.2|ICD9:190.5|DOID:4645|MESH:D019572																		owl:Class
MONDO:0002761	biolink:NamedThing	cervical verrucous carcinoma	A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.	mondoexuq1wtf	uterine cervix verrucous carcinoma|cervical verrucous carcinoma											NCIT:C40190|DOID:3743|UMLS:C1516435																		owl:Class
MONDO:0002386	biolink:NamedThing	mixed epithelial stromal tumor of the kidney	A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.	mondoexuq1wtf	mixed epithelial and stromal tumour of kidney|adult mesoblastic nephroma|MEST|mixed epithelial stromal tumor of the kidney|benign MEST											EFO:1000381|NCIT:C37263|DOID:2678|UMLS:C1272677																		owl:Class
MONDO:0004401	biolink:NamedThing	testis refractory cancer	Malignant testicular germ cell tumor that is resistant to treatment.	mondoexuq1wtf	refractory cancer of the testis|refractory testicular carcinoma|refractory malignant testicular germ cell tumor|refractory testicular cancer|refractory cancer of testis											DOID:7928|NCIT:C9077|UMLS:C1377904																		owl:Class
MONDO:0009072	biolink:NamedThing	Dandy-Walker syndrome	Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.	mondoexuq1wtf	Dandy-Walker malformation|Dandy-Walker syndrome|Dandy-Walker variant (type of DW complex)|DWS|Dandy-Walker syndrome or malformation (type of DW complex)|mega cisterna magna (type of DW complex)|isolated Dandy-Walker malformation|Dandy-Walker complex|atresia of foramina of Magendie and Luschka|DW complex											MESH:D003616|UMLS:C0010964|NCIT:C75012|Orphanet:217|EFO:1000890|MedDRA:10048411|COHD:4031189|ICD10:Q03.1|OMIM:220200|GARD:0006242|SCTID:14447001|DOID:2785																		owl:Class
MONDO:0018945	biolink:NamedThing	McLeod neuroacanthocytosis syndrome	A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.	mondoexuq1wtf	X-linked McLeod syndrome|McLeod syndrome with chronic granulomatous disease|neuroacanthocytosis, McLeod type|MCLDS|McLeod phenotype|McLeod syndrome|MLS											ICD9:289.89|Orphanet:59306|SCTID:234411007|HGNC:12811|MESH:C564038|OMIM:300842|GARD:0010731|ICD10:G10														https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome				owl:Class
MONDO:0007697	biolink:NamedThing	hand clasping pattern		mondoexuq1wtf	hand clasping pattern											OMIM:139800																		owl:Class
MONDO:0012340	biolink:NamedThing	celiac disease, susceptibility to, 2		mondoexuq1wtf	gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2|CELIAC2											OMIM:609754																		owl:Class
MONDO:0023581	biolink:NamedThing	Kuster syndrome		mondoexuq1wtf	cleft lip and palate, lower lip pits, and limb deficiency defects|cleft lip palate lip pits limb deficiency											GARD:0003152|UMLS:C2931741|MESH:C538126														https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome				owl:Class
MONDO:0011048	biolink:NamedThing	epilepsy-microcephaly-skeletal dysplasia syndrome	Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	mondoexuq1wtf	Battaglia-Neri syndrome|mental retardation, microcephaly, epilepsy, and coarse face|epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face											Orphanet:1948|OMIM:601352|ICD10:Q87.8|GARD:0000836																		owl:Class
MONDO:0010576	biolink:NamedThing	X-linked mixed deafness with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.	mondoexuq1wtf	X-linked mixed conductive and sensorineural hearing loss|high-frequency hearing loss|deafness, conductive, with stapes fixation|perceptive hearing loss|sensorineural hearing loss|X-linked stapes gusher syndrome|deafness, X-linked type 2|DFN 3 nonsyndromic hearing loss and deafness|deafness 3, conductive, with stapes fixation|DFNX2|sensory hearing loss|conductive deafness with stapes fixation|central hearing loss|deafness conductive with stapes fixation|sensorineural deafness|deafness, mixed, with perilymphatic gusher|Nance deafness|high frequency deafness|high frequency hearing loss|perilymphatic gusher-deafness syndrome|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|X-linked mixed conductive and neurosensory hearing loss|X-linked deafness type 2|perceptive deafness|perceptive hearing loss or deafness|X-linked mixed conductive and sensorineural deafness|X-linked mixed conductive and neurosensory deafness|DFN3|deafness mixed with perilymphatic gusher|deafness, X-linked 2|deafness 3 conductive with stapes fixation|gusher syndrome|deafness mixed with perilymphatic gusher, X-linked											ICD10:H91.9|ICD10:H90.5|GARD:0004504|ICD9:389.10|DOID:10003|UMLS:C1844678|Orphanet:383|GARD:0001694|MedDRA:10040016|OMIM:304400|ICD9:389.1|ICD10:H90.8|EFO:1001176|ICD9:389.14																		owl:Class
MONDO:0009784	biolink:NamedThing	ophthalmoplegic neuromuscular disorder with abnormal mitochondria		mondoexuq1wtf	ophthalmoplegic neuromuscular disorder with abnormal mitochondria											MESH:C564925|OMIM:258470|UMLS:C1850302																		owl:Class
MONDO:0001935	biolink:NamedThing	neurogenic arthropathy	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)	mondoexuq1wtf	arthropathy associated with neurological disorder|neuropathic arthropathy|Charcot's arthropathy|neuropathic arthropathy (& Charcot's)|Charcot's joint											ICD10:M14.6|DOID:14286|UMLS:C0003892|MESH:D001177|EFO:1001378|ICD9:713.5|SCTID:359554008|COHD:74723																		owl:Class
MONDO:0002671	biolink:NamedThing	signet ring cell breast carcinoma	An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.	mondoexuq1wtf	SRC breast carcinoma|SRC carcinoma of breast|breast signet ring cell adenocarcinoma|primary signet Ring cell carcinoma of breast|mammary signet Ring cell carcinoma|primary mammary signet Ring cell carcinoma|primary SRC carcinoma of the breast|breast signet ring cell carcinoma|signet ring cell carcinoma of breast|primary signet Ring cell breast carcinoma|signet Ring cell carcinoma of the breast|signet Ring cell breast carcinoma|primary SRC breast carcinoma|SRC carcinoma of the breast|primary signet Ring cell carcinoma of the breast|primary SRC carcinoma of breast|signet Ring cell carcinoma of breast|breast carcinoma with signet ring											DOID:3503|UMLS:C1335964|ONCOTREE:BRSRCC|NCIT:C5175																		owl:Class
MONDO:0011801	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	mondoexuq1wtf	SCAN1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|autosomal recessive spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia type 1 with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy type 1											MESH:C537313|OMIM:607250|Orphanet:94124|GARD:0010000|ICD10:G60.2|SCTID:765091006|GARD:10000|DOID:0090115|UMLS:C1846574																		owl:Class
MONDO:0002878	biolink:NamedThing	uterine corpus adenosarcoma	A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.	mondoexuq1wtf	uterine adenosarcoma|adenosarcoma of body of uterus|uterine corpus adenosarcoma|Mullerian adenosarcoma of the uterus|uterine corpus mullerian adenosarcoma|adenosarcoma of the uterine corpus|uterine body adenosarcoma|uterine corpus Müllerian adenosarcoma|adenosarcoma of the corpus uteri|uterine corpus Mullerian adenosarcoma|body of uterus adenosarcoma|adenosarcoma of the uterus|adenosarcoma of the body of uterus|adenosarcoma of uterine corpus|adenosarcoma of the uterine body|adenosarcoma of uterine body					Editor note: check ONCOTREE mapping						UMLS:CN201046|DOID:4113|NCIT:C6336|MESH:C538232|GARD:0009636|UMLS:C1336917|ICD10:C54.2|Orphanet:213600|ONCOTREE:UAS														https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus				owl:Class
MONDO:0010183	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblF	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.	mondoexuq1wtf	methylmalonic aciduria with homocystinuria, type cblF|cblF methylmalonic acidemia and homocystinuria|methylmalonic acidemia and homocystinuria, cblF type|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|vitamin B12 storage disease|vitamin B12 lysosomal release defect|cblF defect|methylmalonic aciduria due to vitamin B12-release defect|methylmalonic aciduria and homocystinuria, cblF type|cobalamin F disease|inherited methylmalonic acidemia and homocystinuria|lysosomal membrane cobalamin transporter deficiency|cobalamin F defect|cobalamin locus f variant|cobalamin F deficiency|cobalamin, defect in lysosomal release of|MAHCF|methylmalonic acidemia with homocystinuria type cblF					Editor note: TODO - relevant annotation from GO						SCTID:80887004|OMIM:277380|ICD10:E72.1|MESH:C564747|GARD:0003584|Orphanet:79284|DOID:0050717																		owl:Class
MONDO:0011259	biolink:NamedThing	retinitis pigmentosa 22	A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.	mondoexuq1wtf	retinitis pigmentosa 22|retinitis pigmentosa type 22|RP22|RP 22											UMLS:C3887981|GARD:0010393|DOID:0110400|ICD10:H35.5|OMIM:602594														https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22				owl:Class
MONDO:0017913	biolink:NamedThing	pure or complex hereditary spastic paraplegia		mondoexuq1wtf	Pure or complex familial spastic paraplegia|Pure or complicated familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia											ICD10:G11.4|Orphanet:320335|UMLS:CN227219																		owl:Class
MONDO:0036990	biolink:NamedThing	benign Leydig cell tumor	A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.	mondoexuq1wtf	benign interstitial cell tumor|Leydig cell tumor, benign|adenoma, interstitial|benign Leydig cell tumor|benign interstitial cell neoplasm|benign Leydig cell neoplasm											ICDO:8650/0|NCIT:C4212|UMLS:C0334409																		owl:Class
MONDO:0004049	biolink:NamedThing	combat disorder	Neurotic reactions to unusual, severe, or overwhelming military stress.	mondoexuq1wtf	neurosis, war|disorder, combat|combat disorder|neuroses, war|war neurosis|shock, shell|shell shock|Shocks, shell|stress disorders, combat|neuroses, combat|neurosis, combat|disorder, combat stress|war neuroses|stress disorder, combat|disorders, combat|combat stress disorders|combat neuroses|combat neurosis|disorders, combat stress|combat stress disorder|shell Shocks											MESH:D003130|DOID:6950|SCTID:279611005																		owl:Class
MONDO:0003763	biolink:NamedThing	acute stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.	mondoexuq1wtf	traumatic stress disorder|acute stress reaction											ICD10:F43.0|EFO:0005223|SCTID:67195008|MESH:D000068099|Wikipedia:Acute_stress_reaction|COHD:440083|NCIT:C92621|DOID:6088|ICD9:308.3|ICD9:308.9																		owl:Class
MONDO:0001394	biolink:NamedThing	chronic erythremia		mondoexuq1wtf												DOID:11868|ICD9:207.1																		owl:Class
MONDO:0004810	biolink:NamedThing	acute ethmoiditis	Acute form of ethmoid sinusitis.	mondoexuq1wtf	acute ethmoid sinusitis|ethmoidal sinus - acute|acute ethmoidal sinusitis|ethmoid sinusitis, acute											ICD10:J01.2|UMLS:C0155806|COHD:141056|ICD10:J01.20|ICD9:461.2|SCTID:67832005|DOID:9506																		owl:Class
MONDO:0014630	biolink:NamedThing	NTHL1-related attenuated familial adenomatous polyposis		mondoexuq1wtf	NTHL1-related AFAP|familial adenomatous polyposis 3|NTHL1-related attenuated FAP|familial adenomatous polyposis type 3|FAP3											UMLS:C4225157|ICD10:D12.6|Orphanet:454840|OMIM:616415																		owl:Class
MONDO:0044628	biolink:NamedThing	six2-related frontonasal dysplasia		mondoexuq1wtf	SIX2-related FND											Orphanet:488437																		owl:Class
MONDO:0037858	biolink:NamedThing	inherited fatty acid metabolism disorder	A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.	mondoexuq1wtf	disorder of fat oxidation|disorders of fatty-acid metabolism|fatty acid metabolism disorder|disorder of fatty acid metabolism											SCTID:39929009|NCIT:C117115																		owl:Class
MONDO:0010142	biolink:NamedThing	hypothyroidism due to TSH receptor mutations	Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	mondoexuq1wtf	TSH resistance|CHNG1|thyrotropin resistance|hypothyroidism, congenital, nongoitrous, 1|thyroid-stimulating hormone, resistance to|hypothyroidism, congenital, nongoitrous, type 1|congenital nongoitrous hypothyroidism 1|hypothyroidism due to unresponsiveness to thyrotropin|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, Nonautoimmune|congenital nongoitrous hypothryoidism 1											UMLS:CN206435|Orphanet:90673|DOID:0070126|ICD10:E03.1|OMIM:275200|UMLS:C3493776																		owl:Class
MONDO:0010319	biolink:NamedThing	syndromic X-linked intellectual disability Hedera type	X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	mondoexuq1wtf	intellectual disability, X-linked, syndromic, Hedera type|X-linked mental retardation with epilepsy|mental retardation, X-linked, syndromic, Hedera type|MRXSH|X-linked intellectual disability, Hedera type|intellectual disability, X-linked, with epilepsy|MRXE|mental retardation, X-linked, with epilepsy|X-linked intellectual disability with epilepsy											UMLS:C1845543|OMIM:300423|Orphanet:93952|MESH:C564516|DOID:0060806																		owl:Class
MONDO:0000330	biolink:NamedThing	endemic typhus	A bacterial infection caused by Rickettsia typhi.	mondoexuq1wtf	urban typhus|endemic flea-borne typhus|shop typhus|urban typhus of Malaya|cat flea rickettsiosis|toulon typhus|rat-flea typhus|murine typhus|fleaborne typhus|Rickettsia felis spotted fever|endemic typhus fever											MedDRA:10028282|MESH:D014437|Orphanet:83315|NCIT:C84688|DOID:0050481|ICD10:A75.2|UMLS:CN206047																		owl:Class
MONDO:0006638	biolink:NamedThing	acute retinal necrosis syndrome	Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.	mondoexuq1wtf	acute retinal necrosis											DOID:3611|EFO:1000795|MESH:D015882|UMLS:C0035319|SCTID:231986000																		owl:Class
MONDO:0016659	biolink:NamedThing	8p23.1 duplication syndrome	8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).	mondoexuq1wtf	trisomy 8p23.1|dup(8)(p23.1p23.1)											UMLS:CN201889|GARD:0010304|ICD10:Q92.3|SCTID:765140006|Orphanet:251076														https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome				owl:Class
MONDO:0017464	biolink:NamedThing	congenital pseudoarthrosis of the fibula		mondoexuq1wtf	congenital pseudarthrosis of the fibula											ICD10:Q74.2|Orphanet:295022																		owl:Class
MONDO:0015525	biolink:NamedThing	congenital pseudoarthrosis of the limbs		mondoexuq1wtf	congenital pseudoarthrosis|congenital pseudarthrosis of the limbs											GARD:0009722|MESH:C535762|Orphanet:157808														https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis				owl:Class
MONDO:0010829	biolink:NamedThing	CARASIL syndrome	CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.	mondoexuq1wtf	CARASIL|Maeda syndrome|subcortical vascular encephalopathy, progressive|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|cerebrovascular disease with thin skin, alopecia, and disc disease											UMLS:C1838577|MESH:C563990|ICD10:F01.1|OMIM:600142|DOID:13945|Orphanet:199354|GARD:0010424|SCTID:703219008																		owl:Class
MONDO:0018831	biolink:NamedThing	HTRA1-related cerebral small vessel disease		mondoexuq1wtf	HTRA1-related cerebral angiopathy											UMLS:CN776824|Orphanet:482072																		owl:Class
MONDO:0017934	biolink:NamedThing	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	mondoexuq1wtf	aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome											UMLS:CN204076|Orphanet:324540|ICD10:Q87.0																		owl:Class
MONDO:0025556	biolink:NamedThing	isocyanate induced asthma		mondoexuq1wtf	isocyanates allergic asthma											SCTID:404808000|DOID:0040041|ICD9:506.3|UMLS:C1321273																		owl:Class
MONDO:0016450	biolink:NamedThing	autoimmune hemolytic anemia, cold type	Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).	mondoexuq1wtf	cold AIHA|cAIHA|cAHA											Orphanet:228312|ICD10:D59.1|UMLS:CN201401																		owl:Class
MONDO:0009468	biolink:NamedThing	pseudotumor cerebri	Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.	mondoexuq1wtf	benign intracranial hypertension|intracranial hypertension, idiopathic|idiopathic intracranial hypertension|benign intracran. hypt.|pseudotumor cerebri|IIH											Orphanet:238624|MESH:D011559|OMIM:243200|COHD:312902|EFO:1001132|SCTID:68267002|DOID:11459|ICD9:348.2|GARD:0004561|MedDRA:10037149|NCIT:C85035|UMLS:C0033845|ICD10:G93.2														https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri				owl:Class
MONDO:0018870	biolink:NamedThing	arterial calcification of infancy	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.	mondoexuq1wtf	generalized arterial calcification of infancy|infantile arteriosclerosis|IIAC|generalized arterial calcification in infancy|idiopathic obliterative arteriopathy|occlusive infantile arteriopathy|idiopathic infantile arterial calcification											OMIMPS:208000|DOID:0050644|Orphanet:51608|GARD:0008380|MESH:C537440|ICD10:Q28.8																		owl:Class
MONDO:0008353	biolink:NamedThing	pruritic urticarial papules and plaques of pregnancy		mondoexuq1wtf	pruritic urticarial papules and plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|pruritic urticarial papules plaques of pregnancy|polymorphic eruption of pregnancy|PUPPP											ICD9:692.9|ICD9:646.80|Orphanet:64745|MESH:C535817|MedDRA:10066100|SCTID:88697005|OMIM:178995|ICD10:O26.8|GARD:0009635																		owl:Class
MONDO:0019665	biolink:NamedThing	monostotic fibrous dysplasia	Fibrous dysplasia of bone involving only one bone.	mondoexuq1wtf	monostotic fibrous dysplasia|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia (disease)|monostotic fibrous dysplasia of bone		monostotic fibrous dysplasia (disease)									HP:0010736|Orphanet:93277|ICD9:733.29|ICD10:M85.0|SCTID:89859004|UMLS:C0016064|NCIT:C53971|ICD10:Q78.1|MESH:D005358																		owl:Class
MONDO:0006995	biolink:NamedThing	tethered spinal cord syndrome	A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.	mondoexuq1wtf	spinal cord syndrome|tethered cord											DOID:1089|ICD9:741|SCTID:249491000119100|NCIT:C99080|EFO:1001210|ICD10:Q05|ICD9:756.19|ICD10:Q05.9																		owl:Class
MONDO:0024550	biolink:NamedThing	frontometaphyseal dysplasia 1	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.	mondoexuq1wtf	FRONTOMETAPHYSEAL dysplasia 1|FLNA frontometaphyseal dysplasia|FMD1|Fmd|frontometaphyseal dysplasia caused by mutation in FLNA											OMIM:305620|DOID:0111786																		owl:Class
MONDO:0015942	biolink:NamedThing	frontometaphyseal dysplasia	Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.	mondoexuq1wtf	frontometaphyseal dysplasia|FMD											DC:0000731|Orphanet:1826|GARD:0000826|DOID:0111785|ICD9:759.89|OMIMPS:305620|ICD10:Q78.5|MESH:C538064|SCTID:62803002																		owl:Class
MONDO:0008745	biolink:NamedThing	oculocutaneous albinism type 1A	Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.	mondoexuq1wtf	albinism, oculocutaneous, type 1A|OCA1A|oculocutaneous albinism type IA|Tyr oculocutaneous albinism|oculocutaneous albinism, tyrosinase-negative|oculocutaneous albinism, type 1|tyrosinase-negative oculocutaneous albinism|albinism 1|TYR oculocutaneous albinism|albinism, oculocutaneous, type IA|oculocutaneous albinism caused by mutation in Tyr|oculocutaneous albinism caused by mutation in TYR											OMIM:203100|ICD10:E70.3|SCTID:6483008|ICD9:270.2|Orphanet:79431|DOID:0070094																		owl:Class
MONDO:0012495	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Genevieve type	Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia, Genevieve type|Nans deficiency|spondyloepimetaphyseal dysplasia Genevieve type|SEMD Genevieve type|spondyloepimetaphyseal dysplasia, Geneviève type|SEMDG|SEMD, Genevieve type|SEMD, Geneviève type											GARD:0010057|DOID:0080576|MESH:C535785|Orphanet:168454|ICD10:Q77.7|OMIM:610442|UMLS:C1864872																		owl:Class
MONDO:0033562	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia		mondoexuq1wtf	NEDDISH|NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA											OMIM:619005																		owl:Class
MONDO:0010068	biolink:NamedThing	spondyloepimetaphyseal dysplasia, sponastrime type	A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.	mondoexuq1wtf	spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|spondyloepimetaphyseal dysplasia Sponastrime type|Sponastrime dysplasia|spondylar and nasal alterations with striated metaphyses|spondyloepimetaphyseal dysplasia, Sponastrime type|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|sponastrime dysplasia|spondylar and nasal alterations-striated metaphyses syndrome|spondyloepimetaphyseal dysplasia, sponastrime type|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation											ICD9:756.9|ICD10:Q77.7|NCIT:C129031|MESH:C535786|OMIM:271510|DOID:5684|Orphanet:93357|GARD:0004970|SCTID:389161008														https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type				owl:Class
MONDO:0000676	biolink:NamedThing	phonagnosia	An agnosia that is a loss of the ability to recognize familiar voices.	mondoexuq1wtf												DOID:0060146																		owl:Class
MONDO:0004802	biolink:NamedThing	pulmonary eosinophilia	A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.	mondoexuq1wtf												ICD9:518.3|UMLS:C0034068|DOID:9498|MESH:D011657|SCTID:367542003																		owl:Class
MONDO:0017053	biolink:NamedThing	intermittent maple syrup urine disease	Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.	mondoexuq1wtf	intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent MSUD|intermittent BCKD deficiency|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency											SCTID:405288003|Orphanet:268173|ICD10:E71.0																		owl:Class
MONDO:0013615	biolink:NamedThing	craniosynostosis and dental anomalies		mondoexuq1wtf	craniosynostosis-dental anomalies|craniosynostosis and dental anomalies|CRSDA|Kreiborg-Pakistani syndrome											Orphanet:284149|OMIM:614188|ICD10:Q87.0|UMLS:C3280073																		owl:Class
MONDO:0014938	biolink:NamedThing	aniridia 3	Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.	mondoexuq1wtf	isolated aniridia caused by mutation in TRIM44|aniridia type 3|aniridia 3; AN3|AN3|TRIM44 isolated aniridia|aniridia 3											OMIM:617142																		owl:Class
MONDO:0014100	biolink:NamedThing	dilated cardiomyopathy 1KK	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1KK|MYPN dilated cardiomyopathy|cardiomyopathy, dilated, type 1Kk|dilated cardiomyopathy type 1KK|CMD1KK|cardiomyopathy, familial restrictive, 4|dilated cardiomyopathy caused by mutation in MYPN|cardiomyopathy, familial hypertrophic, 22											DOID:0110445|ICD10:I42.0|OMIM:615248																		owl:Class
MONDO:0002182	biolink:NamedThing	communication disorder	A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.	mondoexuq1wtf	communicative disorders											DOID:2033|NCIT:C2958|ICD9:307.9|SCTID:278919001|MESH:D003147|ICD10:F80.9|COHD:4150614														https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels				owl:Class
MONDO:0007518	biolink:NamedThing	edema, familial idiopathic, prepubertal		mondoexuq1wtf	edema, familial idiopathic, prepubertal											OMIM:129840|MESH:C565063|UMLS:C1851847																		owl:Class
MONDO:0000669	biolink:NamedThing	color agnosia	An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.	mondoexuq1wtf												DOID:0060139																		owl:Class
MONDO:0007529	biolink:NamedThing	elastosis perforans serpiginosa		mondoexuq1wtf	eps|Miescher elastoma|elastosis perforans serpiginosa|elastoma Intrapapillare perforans verruciformis					Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD						ICD10:L87.2|MESH:C536202|OMIM:130100|GARD:0010103|MedDRA:10014338|Orphanet:79148|UMLS:C0221271|SCTID:49428008														https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa				owl:Class
MONDO:0009795	biolink:NamedThing	orofaciodigital syndrome IX	Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	mondoexuq1wtf	oral facial digital syndrome type 9|orofaciodigital syndrome type IX|oral-facial-digital syndrome with retinal abnormalities|oral-Facial-digital syndrome with retinal abnormalities|orofaciodigital syndrome 9|OFD syndrome 9|oral facial digital syndrome 9|oral-facial-digital syndrome type 9|orofaciodigital syndrome type 9|orofaciodigital syndrome IX|Ofds 9|orofaciodigital syndrome with retinal abnormalities|oral-Facial-digital syndrome, type 9|OFD9											ICD10:Q87.0|MESH:C557818|GARD:0010520|UMLS:C0796102|Orphanet:141007|DOID:0060382|SCTID:718680001|OMIM:258865														https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9				owl:Class
MONDO:0012017	biolink:NamedThing	Parkes Weber syndrome	Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb.	mondoexuq1wtf	PARKES WEBER syndrome|Pkws|Parkes Weber syndrome|PKWS											ICD9:759.6|OMIM:608355|ICD10:Q87.2|UMLS:CN206396|GARD:0009787|Orphanet:90307|UMLS:CN074207|SCTID:234143003														https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome				owl:Class
MONDO:0019777	biolink:NamedThing	Carpenter-Waziri syndrome	Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	mondoexuq1wtf												Orphanet:93973|UMLS:CN206718																		owl:Class
MONDO:0015382	biolink:NamedThing	lower lip fistula	A cysts and fistulae of the face and oral cavity that involves the lower lip.	mondoexuq1wtf	lower lip cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of lower lip											ICD10:Q38.0|Orphanet:141064																		owl:Class
MONDO:0017379	biolink:NamedThing	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	mondoexuq1wtf	polyneuropathy - intellectual deficit - acromicria - premature menopause|polyneuropathy intellectual disability acromicria premature menopause|Lundberg syndrome|polyneuropathy mental retardation acromicria premature menopause					Editor note: awaiting HPO						GARD:0004424|ICD10:Q87.8|Orphanet:2928|UMLS:CN203094																		owl:Class
MONDO:0012264	biolink:NamedThing	preeclampsia/eclampsia 2		mondoexuq1wtf	PREECLAMPSIA/eclampsia 2|PEE2											OMIM:609402|UMLS:C1836257																		owl:Class
MONDO:0003849	biolink:NamedThing	clivus chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	mondoexuq1wtf	clivus of occipital bone chordoma (disease)|chordoma of clivus|clival chordoma|chordoma of the clivus|chordoma (disease) of clivus of occipital bone											NCIT:C5412|UMLS:C1333071|DOID:6312|ICD9:170.0|SCTID:446939001																		owl:Class
MONDO:0012877	biolink:NamedThing	major affective disorder 8		mondoexuq1wtf	major affective disorder 8|MAFD8|bipolar affective disorder|MAJOR affective disorder 8											MESH:C567530|OMIM:612357																		owl:Class
MONDO:0019727	biolink:NamedThing	mixed cryoglobulinemia type III	Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.	mondoexuq1wtf	MC type III											Orphanet:93555|UMLS:CN206634|ICD10:D89.1																		owl:Class
MONDO:0007407	biolink:NamedThing	Cryoglobulinemic vasculitis	Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.	mondoexuq1wtf	essential mixed cryoglobulinemia|MC|essential cryoglobulinemia|primary cryoglobulinemia|cryoglobulinemia, familial mixed|mixed cryoglobulinemia|familial mixed cryoglobulinemia|Meltzer syndrome											MESH:C565141|UMLS:C0340992|SCTID:190815001|GARD:0006386|UMLS:C0343208|UMLS:C1852456|MedDRA:10027756|UMLS:C0272258|ICD9:273.2|ICD10:D89.1|Orphanet:91138|OMIM:123550																		owl:Class
MONDO:0021718	biolink:NamedThing	polyneuritis	Inflammation of several peripheral nerves.	mondoexuq1wtf	polyneuritis|Polyneuritides|Inflammatory polyneuropathy|inflammatory polyneuropathy|Multiple neuritis|Polyneuritis											UMLS:C0032541|HP:0031003|NCIT:C26864|SCTID:76886005|GTR:AN1355640|GTR:AN1353837																		owl:Class
MONDO:0002973	biolink:NamedThing	epithelioid cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes.	mondoexuq1wtf	epithelioid cell melanoma (morphologic abnormality)|epithelioid cell malignant melanoma|epithelioid cell melanoma|epithelioid melanoma											DOID:4360|UMLS:C0334443|NCIT:C4236|ICDO:8771/3																		owl:Class
MONDO:0009781	biolink:NamedThing	Onychotrichodysplasia and neutropenia		mondoexuq1wtf	Onychotrichodysplasia and neutropenia|onycho-tricho-dysplasia-neutropenia syndrome											Orphanet:2739|OMIM:258360|MESH:C537752|UMLS:C1850316|GARD:0010161														https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia				owl:Class
MONDO:0004754	biolink:NamedThing	rectal prolapse	Protrusion of the rectum through the anus.	mondoexuq1wtf	procidentia, rectum|rectal prolapse (disease)|rectal prolapse		rectal prolapse (disease)									ICD10:K62.3|NCIT:C34973|UMLS:C0034888|DOID:9307|ICD9:569.1|HP:0002035																		owl:Class
MONDO:0013332	biolink:NamedThing	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability		mondoexuq1wtf	Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability											SCTID:719162001|OMIM:613627|UMLS:C3150890																		owl:Class
MONDO:0007015	biolink:NamedThing	viral meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.	mondoexuq1wtf												ICD10:A87|NCIT:C118298|ICD9:047.8|ICD9:321.2|EFO:1001236|COHD:433403|ICD10:A87.9|DOID:10310|UMLS:C0025297|MedDRA:10047469|ICD9:047.9|MESH:D008587|SCTID:58170007																		owl:Class
MONDO:0004796	biolink:NamedThing	infectious meningitis	Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.	mondoexuq1wtf	infectious meningitis|meningitis|infective meningitis											EFO:0000584|ICD9:321.8|SCTID:312216007|ICD10:G03|HP:0001287|ICD9:322.9|NCIT:C79598|MESH:D008581|ICD9:322|ICD10:G03.9|DOID:9471																		owl:Class
MONDO:0010918	biolink:NamedThing	EIG1		mondoexuq1wtf	EIG|epilepsy, idiopathic generalized, susceptibility to, 1											MESH:C562694|OMIM:600669|ICD9:345.10|SCTID:36803009																		owl:Class
MONDO:0016757	biolink:NamedThing	malignant triton tumor	Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.	mondoexuq1wtf	malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|MTT|MPNST with rhabdomyoblastic differentiation|MPNST with rhabdomyosarcoma|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant Triton tumour|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|MPNST with rhabdomyosarcomatous differentiation|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma											ICDO:9561/3|ICD9:171.9|DOID:6707|NCIT:C4335|SCTID:404040002|Orphanet:252212|UMLS:C0334616																		owl:Class
MONDO:0007858	biolink:NamedThing	palmoplantar keratoderma, punctate type 1A	Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.	mondoexuq1wtf	Kppp1|palmoplantar keratoderma, punctate type IA|punctate palmoplantar keratoderma type 1A|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|palmoplantar keratoderma, punctate type 1|punctate palmoplantar keratoderma caused by mutation in AAGAB|AAGAB punctate palmoplantar keratoderma|keratosis palmoplantaris papulosa|PPKP1A											DOID:0080214|OMIM:148600																		owl:Class
MONDO:0019332	biolink:NamedThing	punctate palmoplantar keratoderma type 1	Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..	mondoexuq1wtf	type I punctate palmoplantar keratoderma|PPKP1|Buschke-Fischer-Brauer syndrome|punctate palmoplantar keratoderma type I|keratoderma, palmoplantar punctate type 1|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|Brauer-Buschke-Fischer syndrome											Orphanet:79501|UMLS:CN205995|ICD10:Q82.8|SCTID:717184007|GARD:0003103																		owl:Class
MONDO:0012333	biolink:NamedThing	autosomal recessive nonsyndromic deafness 53	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	mondoexuq1wtf	deafness, autosomal recessive type 53|COL11A2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 53|deafness, autosomal recessive 53|DFNB53|autosomal recessive deafness 53|autosomal recessive nonsyndromic deafness caused by mutation in COL11A2											UMLS:C1864746|DOID:0110509|MESH:C566453|ICD10:H90.3|OMIM:609706																		owl:Class
MONDO:0017715	biolink:NamedThing	3-hydroxyacyl-CoA dehydrogenase deficiency		mondoexuq1wtf												Orphanet:309127|ICD10:E71.3|OMIM:231530																		owl:Class
MONDO:0009130	biolink:NamedThing	Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.	mondoexuq1wtf	Dyggve-Melchior-Clausen disease|DMC syndrome|pseudo-Morquio disease type I|DMC disease|DMC|Dyggve-Melchior-Clausen syndrome											ICD10:Q77.7|NCIT:C124844|GARD:0006295|SCTID:82699004|Orphanet:239|UMLS:C0265286|OMIM:223800|DOID:0111167																		owl:Class
MONDO:0004417	biolink:NamedThing	nested variant infiltrating bladder urothelial carcinoma		mondoexuq1wtf	infiltrating bladder urothelial carcinoma, nested variant											UMLS:C1512741|NCIT:C39819|DOID:7969																		owl:Class
MONDO:0018824	biolink:NamedThing	pyoderma gangrenosum	Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.	mondoexuq1wtf												MESH:D017511|DOID:8553|ICD9:686.01|SCTID:74578003|Orphanet:48104|ICD10:L88|GARD:0007510|COHD:133283|UMLS:C0085652|EFO:0006835|MedDRA:10037635														https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum				owl:Class
MONDO:0013765	biolink:NamedThing	coronary heart disease, susceptibility to, 6	Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.	mondoexuq1wtf	coronary artery disease caused by mutation in MMP3|MMP3 coronary artery disease|susceptibility to coronary heart disease 6|coronary heart disease, susceptibility to, type 6|coronary heart disease, susceptibility to, 6|CHDS6											OMIM:614466																		owl:Class
MONDO:0010010	biolink:NamedThing	Schinzel-Giedion syndrome	Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.	mondoexuq1wtf	Schinzel Giedion midface-retraction syndrome|Sgs|Schinzel-Giedion syndrome|SGS|Schinzel-Giedion midface-retraction syndrome|Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome											ICD9:759.89|GARD:0000117|ICD10:Q87.0|UMLS:C0265227|MedDRA:10063540|SCTID:18899000|NCIT:C129308|OMIM:269150|Orphanet:798|MESH:C536632																		owl:Class
MONDO:0003458	biolink:NamedThing	uterine corpus adenofibroma	A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.	mondoexuq1wtf	adenofibroma of the uterine body|adenofibroma of uterine corpus|adenofibroma of corpus uteri|corpus uteri adenofibroma|adenofibroma of the uterine corpus|adenofibroma of the corpus uteri|adenofibroma of the body of uterus|uterine body adenofibroma|adenofibroma of uterine body|body of uterus adenofibroma|adenofibroma of body of uterus											UMLS:C1336901|DOID:5475|NCIT:C6337																		owl:Class
MONDO:0042968	biolink:NamedThing	partial duplication of chromosome 12		mondoexuq1wtf																														owl:Class
MONDO:0014266	biolink:NamedThing	age related macular degeneration 15	Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene.	mondoexuq1wtf	macular degeneration, age-related, 15|age related macular degeneration type 15|macular Degeneration, age-related, type 15|age-related macular degeneration caused by mutation in C9|ARMD15|C9 age-related macular degeneration											OMIM:615591|UMLS:C3810042|DOID:0110027																		owl:Class
MONDO:0017334	biolink:NamedThing	12q15q21.1 microdeletion syndrome	12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	mondoexuq1wtf	Del(12)(q15)(q21.1)|deletion 12q15q21.1|monosomy 12q15q21.1											UMLS:C4518344|UMLS:CN202984|Orphanet:289513|SCTID:734030009|ICD10:Q93.5																		owl:Class
MONDO:0016877	biolink:NamedThing	partial deletion of the long arm of chromosome 12		mondoexuq1wtf	partial monosomy of the long arm of chromosome 12|partial monosomy of chromosome 12q|partial deletion of chromosome 12q|partial deletion of the long arm of chromosome type 12											Orphanet:261821|ICD10:Q93.5																		owl:Class
MONDO:0010167	biolink:NamedThing	urocanic aciduria	Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.	mondoexuq1wtf	encephalopathy due to urocanase deficiency|urocanase deficiency|UROCD|urocanic aciduria|urocanic aciduria (disease)		urocanic aciduria (disease)									GARD:0008539|MESH:C536479|HP:0012237|ICD10:E70.8|SCTID:60952007|UMLS:C0268514|Orphanet:210128|OMIM:276880																		owl:Class
MONDO:0001078	biolink:NamedThing	tropical sprue	A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.	mondoexuq1wtf	tropical enteropathy|idiopathic tropical malabsorption syndrome|tropical steatorrhea|post-infective tropical malabsorption|sprue - tropical											UMLS:C0038054|MESH:D013182|COHD:193521|SCTID:47384003|GARD:0007824|NCIT:C45428|DOID:10607|ICD9:579.1|ICD10:K90.1														https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue				owl:Class
MONDO:0012708	biolink:NamedThing	primary lateral sclerosis, adult, 1		mondoexuq1wtf	primary lateral sclerosis, ADULT, 1|PLSA1|Pls, adult											OMIM:611637|MESH:C566900																		owl:Class
MONDO:0018155	biolink:NamedThing	lateral sclerosis	Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.	mondoexuq1wtf	primary lateral sclerosis|adult-onset PLS|adult-onset primary lateral sclerosis|PLS											ICD10:G12.2|DOID:230|Orphanet:35689|GARD:0010684|COHD:381003|SCTID:81211007|NCIT:C129933|UMLS:C0154682|MedDRA:10036704|ICD10:G12.29|ICD9:335.24																		owl:Class
MONDO:0001655	biolink:NamedThing	dissociated nystagmus		mondoexuq1wtf	dissociated nystagmus											SCTID:9520006|ICD9:379.55|DOID:13174|UMLS:C0155380|ICD10:H55.04																		owl:Class
MONDO:0004843	biolink:NamedThing	pathologic nystagmus	Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.	mondoexuq1wtf												MESH:D009759|UMLS:C0028738|DOID:9650|ICD9:379.50|ICD10:H55.0|ICD10:H55.00																		owl:Class
MONDO:0016348	biolink:NamedThing	non-genetic cardiac rhythm disease		mondoexuq1wtf												UMLS:CN201186|Orphanet:218439																		owl:Class
MONDO:0022934	biolink:NamedThing	Davis Lafer syndrome		mondoexuq1wtf	Lafer Davis syndrome|mental retardation unusual facies Davis Lafer type|intellectual disability unusual facies Davis Lafer type											GARD:0001674|MESH:C535989|UMLS:C2931077														https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome				owl:Class
MONDO:0023016	biolink:NamedThing	duplication of leg mirror foot		mondoexuq1wtf												GARD:0001976														https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot				owl:Class
MONDO:0008416	biolink:NamedThing	palmoplantar keratoderma-sclerodactyly syndrome		mondoexuq1wtf	HURIEZ syndrome|palmoplantar hyperkeratosis-sclerodactyly syndrome|Sclerotylosis|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|Huriez syndrome|SCLEROTYLOSIS|Tys|Scleroatrophic and keratotic dermatosis of limbs|HRZ|Scleroatrophic syndrome											ICD9:757.39|Orphanet:384|SCTID:239076000|MESH:C537526|GARD:0008517|ICD10:Q82.8|OMIM:181600														https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome				owl:Class
MONDO:0021297	biolink:NamedThing	carcinoma in situ of nasopharynx	A in situ carcinoma that involves the nasopharynx.	mondoexuq1wtf	nasopharynx in situ carcinoma|nasopharyngeal carcinoma in situ|stage 0 carcinoma of the nasopharynx|stage 0 nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma aJCC v7|stage 0 nasopharyngeal carcinoma|nasopharynx carcinoma in situ|stage 0 carcinoma of nasopharynx|stage 0 nasopharyngeal carcinoma aJCC v8|stage 0 nasopharyngeal cancer|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 nasopharyngeal carcinoma aJCC v6|carcinoma in situ of nasopharynx|stage 0 nasopharynx carcinoma|carcinoma in situ of the nasopharynx											UMLS:C4331312|NCIT:C9099|UMLS:C0347096|SCTID:92664001																		owl:Class
MONDO:0023083	biolink:NamedThing	epimetaphyseal dysplasia cataract		mondoexuq1wtf												GARD:0002175														https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract				owl:Class
MONDO:0044622	biolink:NamedThing	EMILIN-1-related connective tissue disease		mondoexuq1wtf												Orphanet:485418																		owl:Class
MONDO:0012917	biolink:NamedThing	specific language impairment 4		mondoexuq1wtf	specific language impairment 4|SLI4											UMLS:C2675874|OMIM:612514|MESH:C567288																		owl:Class
MONDO:0006937	biolink:NamedThing	pulpitis	Inflammation of the dental pulp.	mondoexuq1wtf	inflammation of dental pulp|dental pulp inflammation											MESH:D011671|EFO:1001139|ICD9:522.0|SCTID:32620007|COHD:437589|DOID:11121|UMLS:C0034103|ICD10:K04.0|MedDRA:10037463																		owl:Class
MONDO:0041825	biolink:NamedThing	bacterial meningitis caused by gram-negative bacteria		mondoexuq1wtf	bacterial meningitis due to gram-negative bacteria|bacterial meningitis caused by gram-negative bacteria|meningitis with gram negative bacteria|gram-negative bacterial meningitis											UMLS:C0854215|SCTID:425887005																		owl:Class
MONDO:0011427	biolink:NamedThing	Ascaris lumbricoides infection, susceptibility to		mondoexuq1wtf	ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to											OMIM:604291																		owl:Class
MONDO:0013677	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.	mondoexuq1wtf	Emery-Dreifuss muscular dystrophy 7, autosomal dominant|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy											UMLS:C3553060|DOID:0070252|OMIM:614302																		owl:Class
MONDO:0018922	biolink:NamedThing	cold agglutinin disease	Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).	mondoexuq1wtf	anemia, hemolytic, cold antibody|cold antibody hemolytic anemia|chronic cold agglutinin disease|CAD|cold agglutinin syndrome|cold antibody disease|CAS											GARD:0006130|ICD10:D59.1|UMLS:CN205305|Orphanet:56425|SCTID:127055007|UMLS:C1264008																		owl:Class
MONDO:0010961	biolink:NamedThing	obesity due to prohormone convertase I deficiency	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.	mondoexuq1wtf	proprotein convertase 1/3 deficiency|obesity and endocrinopathy due to impaired processing of prohormones|PCI deficiency											UMLS:C1833053|Orphanet:71528|DOID:0111698|UMLS:C4302878|ICD10:E66.8|MESH:C563423|OMIM:600955|SCTID:722053001																		owl:Class
MONDO:0015825	biolink:NamedThing	obesity due to congenital leptin resistance		mondoexuq1wtf												ICD10:E66.8|Orphanet:179490																		owl:Class
MONDO:0009229	biolink:NamedThing	hyaline fibromatosis syndrome		mondoexuq1wtf	infantile systemic hyalinosis (former subtype)|inherited systemic hyalinosis|HFS|hyalinosis, systemic|juvenile hyaline fibromatosis (former subtype)|hyaline fibromatosis syndrome											UMLS:C2745948|GARD:0006807|OMIM:228600|Orphanet:498474|DOID:0111669																		owl:Class
MONDO:0002207	biolink:NamedThing	vulval Paget disease	An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.	mondoexuq1wtf	Paget disease of the vulva|mammalian vulva Paget disease|Paget's disease of the vulva|Paget's disease of vulva|vulval Paget's disease|vulvar Paget's disease|vulva Paget's disease|vulval Paget disease											NCIT:C4027|UMLS:C1275217|SCTID:254898001|DOID:2097|ICD9:233.39																		owl:Class
MONDO:0014641	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.	mondoexuq1wtf	frontotemporal dementia and/or amyotrophic lateral sclerosis 4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4|FTDALS4											OMIM:616439|DOID:0110069|UMLS:C4225325																		owl:Class
MONDO:0009258	biolink:NamedThing	classic galactosemia	Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.	mondoexuq1wtf	galactosemia, classic|galactosemia, Duarte variant|GALT deficiency|Galt deficiency|galactosemia type 1|classical galactosemia, homozygous duarte-type|galactose-1-phosphate uridylyltransferase deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia											SCTID:10899004|Orphanet:79239|DOID:0111459|ICD10:E74.2|OMIM:230400																		owl:Class
MONDO:0014385	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A5	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.	mondoexuq1wtf	amelogenesis imperfecta hypomaturation type IIA5|AI2A5|amelogenesis imperfecta type IIA5|amelogenesis imperfecta, hypomaturation type, IIA5|amelogenesis imperfecta caused by mutation in SLC24A4|SLC24A4 amelogenesis imperfecta											UMLS:C4014578|DOID:0110063|ICD10:K00.5|OMIM:615887																		owl:Class
MONDO:0018552	biolink:NamedThing	urachal sinus	Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.	mondoexuq1wtf												SCTID:451030007|Orphanet:431344|ICD10:Q64.4|UMLS:CN237553																		owl:Class
MONDO:0100213	biolink:NamedThing	IFAP syndrome with or without BRESHECK syndrome	An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.	mondoexuq1wtf	IFAP syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia|ichthyosis follicularis atrichia photophobia syndrome|ichthyosis follicularis-atrichia-photophobia syndrome|IFAP syndrome with or without BRESHECK syndrome|IFAP/BRESHECK syndrome							http://orcid.org/0000-0001-5208-3432				OMIM:308205|MESH:C536085|GARD:0002952|Orphanet:2273|UMLS:C1839988																		owl:Class
MONDO:0015772	biolink:NamedThing	trisomy 8q	Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.	mondoexuq1wtf	8q trisomy|chromosome 8q duplication|trisomy type 8q|Duplication 8q|partial trisomy 8q|8q duplication											ICD10:Q92.2|GARD:0005362|MESH:C538020|NCIT:C36428|Orphanet:1752|UMLS:C0795829																		owl:Class
MONDO:0021222	biolink:NamedThing	lacrimal gland neoplasm	A neoplasm (disease) that involves the lacrimal gland.	mondoexuq1wtf	neoplasm of lacrimal gland|neoplasm of the lacrimal gland|tumor of the lacrimal gland|tumor of lacrimal gland|lacrimal gland tumor|lacrimal gland neoplasm (disease)											NCIT:C4360																		owl:Class
MONDO:0030034	biolink:NamedThing	epilepsy, progressive myoclonic, 11		mondoexuq1wtf	EPM11|EPILEPSY, PROGRESSIVE MYOCLONIC, 11|epilepsy, progressive myoclonic, 11											OMIM:618876																		owl:Class
MONDO:0005432	biolink:NamedThing	alcohol and nicotine codependence	A drug dependence that is the physiological result of being addicted to alcohol and nicotine.	mondoexuq1wtf												EFO:0004776																		owl:Class
MONDO:0700061	biolink:NamedThing	mosaic vs complete	A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0016487	biolink:NamedThing	beta-thalassemia intermedia	Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.	mondoexuq1wtf												Orphanet:231222|ICD10:D56.1|MedDRA:10062923|ICD9:282.49|SCTID:191189009																		owl:Class
MONDO:0017844	biolink:NamedThing	Sezary syndrome	Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).	mondoexuq1wtf	Sezary's lymphoma|SS|cutaneous T-cell lymphoma/Sezary syndrome|CTCL / Sezary syndrome|Sezary disease|Sezary syndrome|Sezary's disease|Sezary lymphoma|Sézary syndrome|SC)zary syndrome|Sézary lymphoma											MedDRA:10040493|ONCOTREE:SS|SCTID:118611004|ICD9:202.2|ICD10:C84.1|MedDRA:10040500|MESH:D012751|ICDO:9701/3|Orphanet:3162|UMLS:C0036920|GARD:0007629|NCIT:C3366|DOID:8541|ICD10:C84.10|EFO:1000785																		owl:Class
MONDO:0032922	biolink:NamedThing	Beck-Fahrner syndrome		mondoexuq1wtf	BEFAHRS|BECK-FAHRNER SYNDROME											OMIM:618798																		owl:Class
MONDO:0013755	biolink:NamedThing	PYCR1-related de Barsy syndrome	Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.	mondoexuq1wtf	cutis laxa, autosomal recessive, type IIIB|cutis laxa, autosomal recessive, type 3B|PYCR1 deficiency|autosomal recessive cutis laxa type IIIB|de Barsy syndrome caused by mutation in PYCR1|pyrroline-5-carboxylate reductase 1 deficiency|ARCL3B|PYCR1 de Barsy syndrome|De Barsy syndrome B											UMLS:C3280799|ICD10:Q87.8|ICD10:Q82.8|Orphanet:293633|DOID:0070138|OMIM:614438																		owl:Class
MONDO:0017569	biolink:NamedThing	de Barsy syndrome	A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	mondoexuq1wtf	progeroid syndrome, de Barsy type|autosomal recessive cutis laxa type III|cutis laxa-corneal clouding-intellectual disability syndrome|corneal clouding, cutis laxa and intellectual disability|corneal clouding, cutis laxa and mental retardation|cutis laxa growth deficiency syndrome|progeroid syndrome, De Barsy type|progeroid syndrome of de Barsy|De Barsy syndrome											MESH:C535990|ICD10:Q87.8|GARD:0000049|GARD:49|PMID:18388779|Orphanet:2962|SCTID:238826008|DOID:0070143																		owl:Class
MONDO:0008860	biolink:NamedThing	beta-aminoisobutyric acid, urinary excretion of		mondoexuq1wtf	hyper-Beta-aminoisobutyric aciduria|Baib urinary excretion|beta-aminoisobutyric acid, urinary excretion of|Beta-aminoisobutyric aciduria|BETA-aminoisobutyric aciduria|BAIBA											OMIM:210100|UMLS:C1859518|MESH:C565904																		owl:Class
MONDO:0011624	biolink:NamedThing	transaldolase deficiency	Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.	mondoexuq1wtf	transaldolase deficiency|Eyaid syndrome|TALDO deficiency|Taldo deficiency											OMIM:606003|Orphanet:101028|GARD:0010445|UMLS:C1291329|ICD10:E74.8|SCTID:124252008|ICD9:277.6|MESH:C563207														https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency				owl:Class
MONDO:0001399	biolink:NamedThing	ureter leiomyoma	A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	ureteral leiomyoma|leiomyoma of the ureter|ureter leiomyoma|leiomyoma of ureter											DOID:11887|UMLS:C1336875|NCIT:C6161																		owl:Class
MONDO:0004340	biolink:NamedThing	mixed ductal-endocrine carcinoma of pancreas	A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.	mondoexuq1wtf	mixed ductal-endocrine carcinoma of the pancreas|mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma											NCIT:C6879|UMLS:C1301048|DOID:7716																		owl:Class
MONDO:0000943	biolink:NamedThing	acute hydrops keratoconus		mondoexuq1wtf	acute hydrops of cornea|keratoconus, acute hydrops|acute corneal hydrops											ICD9:371.62|DOID:10125|UMLS:C0339286|SCTID:111523009																		owl:Class
MONDO:0007626	biolink:NamedThing	familial congenital palsy of trochlear nerve	An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	trochlear nerve palsy, familial congenital|strabismus from Superior oblique palsy|superior oblique oculomotor palsy, familial congenital|fourth cranial nerve palsy, familial congenital|hereditary fourth cranial nerve palsy											Orphanet:91498|UMLS:C1850996|MESH:C565007|ICD10:H49.1|OMIM:136480|GARD:0010355														https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve				owl:Class
MONDO:0020256	biolink:NamedThing	congenital trochlear nerve palsy		mondoexuq1wtf	congenital CNIV palsy|congenital fourth cranial nerve palsy|congenital superior oblique palsy											ICD10:H49.1|Orphanet:98686																		owl:Class
MONDO:0003737	biolink:NamedThing	malignant testicular Leydig cell tumor	A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.	mondoexuq1wtf	testicular Leydig cell tumor, malignant											UMLS:C1515288|DOID:6021|NCIT:C39942																		owl:Class
MONDO:0000377	biolink:NamedThing	malignant Leydig cell tumor	A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.	mondoexuq1wtf	malignant interstitial cell tumor|malignant Leydig cell neoplasm|Leydig cell cancer|cancer of Leydig cell|Leydig cell tumor, malignant|malignant interstitial cell neoplasm|malignant neoplasm of Leydig cell											NCIT:C4213|ICDO:8650/3|DOID:0050616|UMLS:C0334410																		owl:Class
MONDO:0042913	biolink:NamedThing	Schrander-stumpel-Theunissen-Hulsmans syndrome		mondoexuq1wtf	Schrander-Stumpel Theunissen Hulsmans syndrome|vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|vitiligo, psychomotor retardation, cleft palate and facial dysmorphism											MESH:C536639|GARD:0000256|UMLS:C2931275																		owl:Class
MONDO:0013592	biolink:NamedThing	nonsyndromic congenital nail disorder 9		mondoexuq1wtf	NDNC9|onychodystrophy|nonsyndromic congenital nail disorder type 9|nail disorder, nonsyndromic congenital, 9|nail dysplasia|anonychia-onycholysis, isolated											UMLS:C3279947|OMIM:614149|SCTID:87065009|ICD9:703.8|DOID:0080087																		owl:Class
MONDO:0019577	biolink:NamedThing	anonychia-onychodystrophy syndrome		mondoexuq1wtf												Orphanet:90390|UMLS:C1862840|ICD10:Q84.3|MESH:C536378																		owl:Class
MONDO:0001827	biolink:NamedThing	white piedra	A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.	mondoexuq1wtf	Tinea blanca											COHD:132834|UMLS:C0040249|ICD10:B36.2|SCTID:35586003|ICD9:111.2|DOID:13902																		owl:Class
MONDO:0003601	biolink:NamedThing	mediastinum liposarcoma	A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.	mondoexuq1wtf	mediastinal liposarcoma|mediastinum liposarcoma|lip mediastinum sarcoma|liposarcoma of mediastinum|liposarcoma of the mediastinum											NCIT:C6614|UMLS:C1334663|DOID:5713																		owl:Class
MONDO:0014152	biolink:NamedThing	left ventricular noncompaction 8	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.	mondoexuq1wtf	familial isolated dilated cardiomyopathy caused by mutation in PRDM16|left ventricular noncompaction type 8|left ventricular noncompaction 8|cardiomyopathy, dilated, 1Ll|LVNC8|PRDM16 familial isolated dilated cardiomyopathy					This appears in the series 115200 because of an included entity.						OMIM:615373|UMLS:C3809288																		owl:Class
MONDO:0008544	biolink:NamedThing	tetramelic monodactyly	Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	tetramelic monodactyly|tetramelic monodactyly with autosomal dominant inheritance|Sommer-Hines syndrome|Sommer Hines syndrome											Orphanet:2564|MESH:C566066|GARD:0003707|OMIM:187510|UMLS:C1861233|ICD10:Q73.8														https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly				owl:Class
MONDO:0013379	biolink:NamedThing	Noonan syndrome 7	Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.	mondoexuq1wtf	NS7|BRAF Noonan syndrome|Noonan syndrome 7|Noonan syndrome caused by mutation in BRAF|Noonan syndrome type 7											UMLS:C3150970|DOID:0060585|OMIM:613706																		owl:Class
MONDO:0012305	biolink:NamedThing	photoparoxysmal response 3		mondoexuq1wtf	photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3|PPR3											UMLS:C1835966|OMIM:609573|MESH:C563695																		owl:Class
MONDO:0017026	biolink:NamedThing	interstitial lung disease specific to adulthood		mondoexuq1wtf	ILD specific to adulthood											UMLS:CN202338|Orphanet:264735																		owl:Class
MONDO:0007436	biolink:NamedThing	dentin dysplasia type I	Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.	mondoexuq1wtf	dentin dysplasia, type I|radicular dentin dysplasia|DTDP1|dentin dysplasia, type 1|rootless teeth|dentin dysplasia, type I, with extreme microdontia and misshapen teeth|DD-I|dentin dysplasia, Shields type 1											OMIM:125400|GARD:0001807|MESH:C538215|SCTID:109493006|ICD9:520.5|Orphanet:99789|MESH:C531665|ICD10:K00.5|UMLS:C0399379														https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1				owl:Class
MONDO:0007696	biolink:NamedThing	Emery-Nelson syndrome		mondoexuq1wtf	hand and foot deformity-flat facies syndrome|familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity with flat facies|hand and foot deformity - flat facies											GARD:0002593|MESH:C535626|Orphanet:1927|UMLS:C1841693|ICD10:Q87.8|OMIM:139750																		owl:Class
MONDO:0001527	biolink:NamedThing	conjugate gaze palsy		mondoexuq1wtf	palsy of conjugate gaze											UMLS:C0702143|DOID:12445|COHD:377566|SCTID:1534008|ICD9:378.81																		owl:Class
MONDO:0013413	biolink:NamedThing	retinitis pigmentosa 45	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.	mondoexuq1wtf	retinitis pigmentosa type 45|retinitis pigmentosa caused by mutation in CNGB1|CNGB1 retinitis pigmentosa|retinitis pigmentosa 45|RP45											ICD10:H35.5|OMIM:613767|UMLS:C3151066|DOID:0110402																		owl:Class
MONDO:0009421	biolink:NamedThing	hypogonadism, male		mondoexuq1wtf	hypogonadism, male|hypogonadism and testicular atrophy					Editor note: check OMIM						SCTID:48723006|ICD9:257.2|OMIM:241100																		owl:Class
MONDO:0014259	biolink:NamedThing	neuronopathy, distal hereditary motor, type 2D	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.	mondoexuq1wtf	neuronopathy, distal hereditary motor, type IID|neuropathy, distal hereditary motor, type 2D|neuronopathy, distal hereditary motor caused by mutation in FBXO38|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN 2D|HMN2D|FBXO38 neuronopathy, distal hereditary motor											OMIM:615575|DOID:0111210																		owl:Class
MONDO:0006918	biolink:NamedThing	posterior uveitis	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.	mondoexuq1wtf	inflammation of chorioretinal region|chorioretinal region inflammation|uveitis, posterior					Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD						EFO:1001119|DOID:12574|SCTID:43363007|GARD:0004457|MESH:D015866|MedDRA:10036370																		owl:Class
MONDO:0025062	biolink:NamedThing	encephalomyelitis, enzootic porcine	A picornavirus infection producing symptoms similar to poliomyelitis in pigs.	mondoexuq1wtf	disease, Talfan|porcine poliomyelitis|disease, Teschen|porcine encephalomyelitis, enzootic|Talfan disease|enzootic porcine encephalomyelitis|poliomyelitis, porcine|Teschen disease											MESH:D004682																		owl:Class
MONDO:0019764	biolink:NamedThing	laryngotracheoesophageal cleft type 4	Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.	mondoexuq1wtf	LTEC IV|LTEC4|laryngo-tracheo-esophageal cleft type 4											Orphanet:93941|UMLS:CN206699|ICD10:Q32.1																		owl:Class
MONDO:0004067	biolink:NamedThing	gallbladder mucinous adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	mondoexuq1wtf	colloidal carcinoma of gallbladder|colloid carcinoma of the gallbladder|colloidal carcinoma of the gallbladder|gallbladder mucinous carcinoma|gall bladder mucinous adenocarcinoma|gallbladder colloid carcinoma|mucinous carcinoma of the gallbladder|gallbladder mucinous adenocarcinoma|colloid carcinoma of gallbladder|gallbladder colloidal carcinoma|mucinous carcinoma of gallbladder											NCIT:C5744|UMLS:C1333750|DOID:6998																		owl:Class
MONDO:0008615	biolink:NamedThing	tune deafness		mondoexuq1wtf	tone deafness|Dysmelodia|tune deafness|amusia, congenital											MESH:C566019|OMIM:191200|ICD9:389.8|UMLS:C1860646|SCTID:55647004																		owl:Class
MONDO:0003343	biolink:NamedThing	retinal hemangioblastoma	A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.	mondoexuq1wtf	retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina|retinal hemangioblastoma|vasculature of retina hemangioblastoma											UMLS:C1514915|DOID:5240|NCIT:C39783																		owl:Class
MONDO:0014821	biolink:NamedThing	complex lethal osteochondrodysplasia		mondoexuq1wtf	Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type|OCLSBG|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type											ICD10:Q78.8|UMLS:C4225162|OMIM:616897|Orphanet:457378																		owl:Class
MONDO:0023282	biolink:NamedThing	granulomatous hypophysitis	Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.	mondoexuq1wtf	idiopathic granulomatous hypophysitis											GARD:0006547														https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis				owl:Class
MONDO:0054716	biolink:NamedThing	microcephaly 19, primary, autosomal recessive		mondoexuq1wtf	primary autosomal recessive microcephaly 19|MCPH19|microcephaly 19, PRIMARY, autosomal recessive											OMIM:617800|UMLS:C4540488|DOID:0070281																		owl:Class
MONDO:0010718	biolink:NamedThing	absent radius-anogenital anomalies syndrome	Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	mondoexuq1wtf	radial aplasia, X-linked|radius absent anogenital anomalies|radial aplasia and anogenital anomalies											OMIM:312190|GARD:0004633|Orphanet:3016|UMLS:C1839410|MESH:C535281																		owl:Class
MONDO:0015306	biolink:NamedThing	Lemierre syndrome	Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.	mondoexuq1wtf	acute sore throat|necrobacillosis|postanginal sepsis|Lemierre postanginal sepsis|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|postanginal sepsis secondary to orophyngeal infection|human necrobacillosis|Lemierre's syndrome|Lemierre syndrome|septic phlebitis of the internal jugular vein											Orphanet:137839|DOID:11337|MedDRA:10065552|GARD:0006882|SCTID:52542005|MESH:D057831|ICD9:040.3|ICD10:I80.8														https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome				owl:Class
MONDO:0005229	biolink:NamedThing	bacterial infectious disease with sepsis	An infectious disease caused by bacteria causing sepsis.	mondoexuq1wtf	symptomatic bacteremia|bacterial sepsis|Bacteremias|bacteremia											ICD9:790.7|UMLS:C0004610|DOID:0040085|Wikipedia:Bacteremia|SCTID:5758002|EFO:0003033|MESH:D016470																		owl:Class
MONDO:0001172	biolink:NamedThing	salpingo-oophoritis		mondoexuq1wtf	tubo ovarian abscess|tubo-ovarian abscess|tubo-ovarian abscess (disorder)|salpingitis/oophoritis|Tubo-ovarian inflammatory disease											ICD10:N70.9|DOID:10972|UMLS:C0036133|COHD:197602|ICD9:614.2|ICD10:N70|ICD10:N70.93|SCTID:46536000																		owl:Class
MONDO:0006007	biolink:NamedThing	vesicoureteral reflux	Abnormal flow of urine from the urinary bladder back into the ureters.	mondoexuq1wtf	vesicoureteral reflux (disease)|vesicoureteral reflux|vesico-ureteral reflux		vesicoureteral reflux (disease)									SCTID:197811007|ICD10:N13.7|EFO:0007536|ICD10:N13.70|MESH:D014718|HP:0000076|ICD9:593.7|UMLS:C0042580|DOID:9620																		owl:Class
MONDO:0004106	biolink:NamedThing	testicular yolk sac tumor, macrocystic pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.	mondoexuq1wtf	testicular yolk sac tumor, macrocystic pattern|macrocystic pattern testicular yolk sac tumor											UMLS:C1515307|DOID:7097|NCIT:C39924																		owl:Class
MONDO:0012550	biolink:NamedThing	iris pattern		mondoexuq1wtf	iris pattern											UMLS:C1853115|OMIM:610744																		owl:Class
MONDO:0012726	biolink:NamedThing	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.	mondoexuq1wtf	HANAC syndrome|angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|HANAC|hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome											SCTID:702428000|ICD9:758.89|UMLS:C2673195|OMIM:611773|MESH:C567088|GARD:0010889|ICD10:I99|Orphanet:73229																		owl:Class
MONDO:0004322	biolink:NamedThing	non-gestational ovarian choriocarcinoma	A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.	mondoexuq1wtf												NCIT:C39991|DOID:7665|UMLS:C1518355																		owl:Class
MONDO:0022639	biolink:NamedThing	Cantu sanchez-corona Garcia-Cruz syndrome		mondoexuq1wtf												GARD:0001082														https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome				owl:Class
MONDO:0005868	biolink:NamedThing	myelophthisic anemia	A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.	mondoexuq1wtf	leukoerythroblastic reaction|anemia, leukoerythroblastic|leukoerythroblastosis|anemia LEUKOERYTHROBLASTIC|myelophthisis											MESH:D000750|ICD9:285.8|ICD10:D61.82|NCIT:C36218|UMLS:C0002890|EFO:0007388|DOID:2354|SCTID:2694001																		owl:Class
MONDO:0014789	biolink:NamedThing	CCDC115-CDG		mondoexuq1wtf	CDG2O|congenital disorder of glycosylation, type IIo|carbohydrate deficient glycoprotein syndrome type IIo|congenital disorder of glycosylation type IIo|CDG IIo|congenital disorder of glycosylation type 2o|CDG-IIo|CDG syndrome type IIo											DOID:0070267|OMIM:616828|Orphanet:468684																		owl:Class
MONDO:0011697	biolink:NamedThing	Waardenburg syndrome type 2C	A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.	mondoexuq1wtf	Waardenburg syndrome type IIC|Waardenburg syndrome, type 2C|WS2C											UMLS:C1847722|MESH:C564684|OMIM:606662|DOID:0110951																		owl:Class
MONDO:0016208	biolink:NamedThing	solitary rectal ulcer syndrome	Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.	mondoexuq1wtf												ICD10:K62.6|SCTID:716685003|Orphanet:209964|UMLS:CN200964|UMLS:C4274343																		owl:Class
MONDO:0014490	biolink:NamedThing	ketoacidosis due to monocarboxylate transporter-1 deficiency		mondoexuq1wtf	monocarboxylate transporter 1 deficiency|MCT1D											OMIM:616095|Orphanet:438075|ICD10:E88.8|UMLS:C4015186																		owl:Class
MONDO:0012385	biolink:NamedThing	metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands		mondoexuq1wtf	cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands											OMIM:609989|MESH:C537354|GARD:0009942|UMLS:C1864944														https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands				owl:Class
MONDO:0017454	biolink:NamedThing	triphalangeal thumb-polysyndactyly syndrome	Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.	mondoexuq1wtf	TPT-PS syndrome											ICD10:Q74.8|Orphanet:2950|UMLS:CN203197																		owl:Class
MONDO:0006174	biolink:NamedThing	cortisol-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.	mondoexuq1wtf	cortisol producing adrenal cortex adenoma|cortisol producing adrenal cortical adenoma|cortisol-producing adrenal cortex adenoma											EFO:1000208|NCIT:C48449|UMLS:C1707525																		owl:Class
MONDO:0100285	biolink:NamedThing	extrahepatic biliary atresia	A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.	mondoexuq1wtf	biliary atresia, extrahepatic|EHBA							http://orcid.org/0000-0001-5208-3432				OMIM:210500|UMLS:C4520983														https://github.com/monarch-initiative/mondo/issues/2663				owl:Class
MONDO:0011960	biolink:NamedThing	schizophrenia 11	A schizophrenia that has material basis in a mutation on chromosome 10q22.3.	mondoexuq1wtf	Sczd11|schizophrenia 11|schizophrenia type 11|schizophrenia susceptibility locus, chromosome 10Q-related|SCZD11											OMIM:608078|DOID:0070087|UMLS:C1842605																		owl:Class
MONDO:0014911	biolink:NamedThing	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	mondoexuq1wtf	GRIDHH|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH|Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy											OMIM:617093|EFO:0009155|UMLS:C4310720|Orphanet:541423																		owl:Class
MONDO:0009061	biolink:NamedThing	cystic fibrosis	Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.	mondoexuq1wtf	cystic fibrosis|mucoviscidosis|CF											MESH:D003550|GARD:0006233|ICD10:E84|ICD10:E84.0|OMIM:219700|ICD10:E84.8|ICD10:E84.1|ICD9:277.0|DOID:1485|Orphanet:586|NCIT:C2975|SCTID:190905008|COHD:441267|ICD10:E84.9|UMLS:C0010674|MedDRA:10011762														https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis				owl:Class
MONDO:0006075	biolink:NamedThing	adrenal gland myelolipoma	A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.	mondoexuq1wtf	adrenal gland myelolipoma|MYELOLIPOMA, benign|Myelolipoma											MESH:D018209|UMLS:C0206635|SCTID:719049003|ICDO:8870/0|NCIT:C3736|EFO:1000074																		owl:Class
MONDO:0003331	biolink:NamedThing	ovarian monodermal teratoma	A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.	mondoexuq1wtf	monodermal teratoma (morphologic abnormality)|ovarian monodermal teratoma|monodermal teratoma											UMLS:C1302569|NCIT:C7286|DOID:5207																		owl:Class
MONDO:0044645	biolink:NamedThing	familial monosomy 7 syndrome		mondoexuq1wtf												Orphanet:495930																		owl:Class
MONDO:0010223	biolink:NamedThing	ichthyosis, X-linked, without steroid sulfatase deficiency		mondoexuq1wtf	ichthyosis, X-linked, without steroid sulfatase deficiency											OMIM:300001|UMLS:C1848387|MESH:C564729																		owl:Class
MONDO:0001521	biolink:NamedThing	intermittent explosive disorder	A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.	mondoexuq1wtf	explosive personality disorder											SCTID:231527003|ICD9:301.3|ICD10:F60.3|DOID:12401|ICD10:F63.81|NCIT:C94332|COHD:440989|ICD9:312.34																		owl:Class
MONDO:0022781	biolink:NamedThing	cleft lip palate-tetraphocomelia		mondoexuq1wtf												GARD:0001383														https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia				owl:Class
MONDO:0017394	biolink:NamedThing	ketamine-induced biliary dilatation	Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.	mondoexuq1wtf												UMLS:CN227122|UMLS:C4512018|Orphanet:293807|SCTID:726613003																		owl:Class
MONDO:0004694	biolink:NamedThing	hepatopulmonary syndrome	Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.	mondoexuq1wtf												GARD:0013384|EFO:1001346|SCTID:371067004|COHD:4159144|ICD9:573.5|UMLS:C0600452|DOID:900|MESH:D020065|ICD9:417.8|ICD10:K76.81														https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome				owl:Class
MONDO:0021367	biolink:NamedThing	leukemia, myeloid, accelerated-phase	The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.	mondoexuq1wtf	Leukemia, Myeloid, Aggressive-Phase|Aggressive-Phase CML|Leukemia, Myeloid, Accelerated Phase|Accelerated Phase Chronic Myelogenous Leukemia|Myeloid Leukemia, Chronic, Accelerated-Phase|Aggressive-Phase Chronic Myelogenous Leukemia|Myelogenous Leukemia, Chronic, Aggressive-Phase|Accelerated Phase Chronic Myeloid Leukemia|Accelerated Phase Chronic Myelocytic Leukemia|Accelerated Phase CML|CML AGGRESSIVE|CML ACCELERATED|Accelerated phase chronic myeloid leukemia|Leukemia, Myelogenous, Aggressive Phase|Myeloid Leukemia, Chronic, Aggressive Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Myeloid Leukemia, Chronic, Aggressive-Phase|Leukemia, Myeloid, Accelerated-Phase|Accelerated Phase Chronic Granulocytic Leukemia|Leukemia, Myelogenous, Aggressive-Phase|Aggressive-Phase Chronic Myeloid Leukemia|Aggressive-Phase Chronic Myelocytic Leukemia|Myeloid Leukemia, Chronic, Accelerated Phase											MESH:D015465|EFO:1001755|UMLS:C0023472																		owl:Class
MONDO:0011996	biolink:NamedThing	chronic myelogenous leukemia, BCR-ABL1 positive	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.	mondoexuq1wtf	leukemia, chronic myeloid|chronic myelogenous leukemias|myeloid leukemia, chronic|chronic myeloid leukemia|chronic myelogenous leukemia, BCR-ABL1 Positive|CML|chronic granulocytic leukemia|leukemia, chronic myeloid, atypical|CML - chronic myelogenous leukemia|chronic myelogenous leukemia (CML)|leukemia, chronic myelogenous|BCR-ABL Positive chronic myelogenous leukemia|chronic myelogenous leukemia|chronic myelocytic leukemia|hematopoeitic - chronic myelocytic leukemia (CML)											EFO:0000339|OMIM:608232|KEGG:05220|ICD10:C92.1|ICDO:9875/3|COHD:134603|ONCOTREE:CML|GARD:0006105|DOID:8552|ICD9:205.1|NCIT:C3174|MedDRA:10009013|ICDO:9863/3|Orphanet:521|UMLS:C0023473																		owl:Class
MONDO:0010926	biolink:NamedThing	familial hypocalciuric hypercalcemia 3	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.	mondoexuq1wtf	HHC3|FBHOk|AP2S1 familial hypocalciuric hypercalcemia|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|hypocalciuric hypercalcemia, familial, type III|familial benign hypercalcemia, Oklahoma variant|hypocalciuric hypercalcemia, familial, type 3|FBH3|hypercalcemia, familial benign, type 3|familial benign hypercalcemia, type 3|FHH type 3|hypocalciuric hypercalcemia type III|familial hypocalciuric hypercalcemia type 3|hypercalcemia, familial benign, Oklahoma type											GARD:0002878|UMLS:C1833372|MESH:C537147|OMIM:600740|DOID:0060702|ICD10:E83.5|Orphanet:101050																		owl:Class
MONDO:0019836	biolink:NamedThing	congenital anomaly of hepatic vein		mondoexuq1wtf												Orphanet:95507|ICD10:Q26.8																		owl:Class
MONDO:0012322	biolink:NamedThing	holoprosencephaly 5	Holoprosencephaly associated with mutations in the ZIC2 gene.	mondoexuq1wtf	ZIC2 holoprosencephaly|holoprosencephaly caused by mutation in ZIC2|HPE5|holoprosencephaly type 5|holoprosencephaly 5											DOID:0110878|MESH:C566464|UMLS:C1864827|NCIT:C75460|OMIM:609637																		owl:Class
MONDO:0019758	biolink:NamedThing	midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.	mondoexuq1wtf	MIH type HPE|MIH|MIHV|middle interhemispheric fusion variant|MIHF|Syntelencephaly|middle interhemispheric variant of holoprosencephaly											ICD10:Q04.2|UMLS:CN206692|Orphanet:93926																		owl:Class
MONDO:0009649	biolink:NamedThing	moyamoya disease 1		mondoexuq1wtf	MYMY1|Moyamoya disease 1|Moyamoya disease|spontaneous occlusion of the circle of Willis											OMIM:252350|ICD9:437.5|SCTID:69116000																		owl:Class
MONDO:0006589	biolink:NamedThing	occupational dermatitis	Contact dermatitis associated with allergens or irritants found in the workplace.	mondoexuq1wtf	occupational dermatitis|occupational eczema (disorder) [ambiguous]|occupational allergic contact dermatitis|occupational eczema											EFO:1000744|MESH:D009783|UMLS:C0028796|ICD9:692.9|NCIT:C34859|DOID:4404|SCTID:402587003																		owl:Class
MONDO:0005480	biolink:NamedThing	contact dermatitis	An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.	mondoexuq1wtf	contact dermatitis|dermatitis venenata|dermatitis, venenata|contact dermatitis/eczema|contact eczema											DOID:2773|COHD:134438|NCIT:C26743|SCTID:40275004|UMLS:C0011616|ICD9:692.89|ICD10:L25.9|ICD10:L25|EFO:0005319|ICD9:692.9|MESH:D003877																		owl:Class
MONDO:0021845	biolink:NamedThing	Aloi Tomasini Isaia syndrome	A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization.	mondoexuq1wtf	basal cell nevus, anodontia, abnormal bone mineralization|unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization											UMLS:C2931405|GARD:0000417|MESH:C537049														https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome				owl:Class
MONDO:0018449	biolink:NamedThing	acquired cystic disease-associated renal cell carcinoma	Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.	mondoexuq1wtf												Orphanet:404514|UMLS:CN226194|ICD10:C64																		owl:Class
MONDO:0009381	biolink:NamedThing	hyperbilirubinemia, conjugated, type 3		mondoexuq1wtf	hyperbilirubinemia, conjugated, type III											OMIM:237550|SCTID:235906009|MESH:C562885|UMLS:C0400964																		owl:Class
MONDO:0014638	biolink:NamedThing	Fanconi anemia complementation group T	Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.	mondoexuq1wtf	Fanconi anemia caused by mutation in UBE2T|Fanconi anemia complementation group type T|FANCT|UBE2T Fanconi anemia|Fanconi Anemia, complementation group type T|Fanconi anemia, complementation group T											DOID:0111081|UMLS:C4084840|OMIM:616435																		owl:Class
MONDO:0000540	biolink:NamedThing	small intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	small intestine neuroendocrine neoplasm G1|small intestine carcinoid neuroendocrine tumor|small intestine neuroendocrine tumor, well differentiated, low grade|small bowel carcinoid tumor|small intestinal carcinoid tumor|small intestinal neuroendocrine tumor G1|small intestinal NET G1|small intestine carcinoid tumor|grade 1 neuroendocrine neoplasm of small intestine|small intestine NET G1|carcinoid tumor of the small bowel|small intestine carcinoid tumor (disease)|carcinoid tumor of small intestine|carcinoid tumor of the small intestine|carcinoid tumor of small bowel											DOID:0050925|NCIT:C4638|UMLS:C0349536|SCTID:276818002|COHD:198100																		owl:Class
MONDO:0003294	biolink:NamedThing	pericardium leiomyoma	A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	pericardial leiomyoma|leiomyoma of the pericardium|leiomyoma of pericardium|pericardium leiomyoma											UMLS:C1335380|DOID:5137|NCIT:C6743																		owl:Class
MONDO:0011115	biolink:NamedThing	spastic paraplegia and Evans syndrome		mondoexuq1wtf	spastic paraplegia and Evans syndrome											MESH:C566652|OMIM:601608|UMLS:C1866619																		owl:Class
MONDO:0015477	biolink:NamedThing	pinnae fistula or cyst	Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.	mondoexuq1wtf												ICD10:Q18.8|Orphanet:155838																		owl:Class
MONDO:0009811	biolink:NamedThing	osteoma of middle ear		mondoexuq1wtf	osteoma of middle ear											OMIM:259650|UMLS:C1850142|MESH:C564917																		owl:Class
MONDO:0019905	biolink:NamedThing	ring chromosome 9	Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.	mondoexuq1wtf	Ring 9|chromosome 9 ring|Ring chromosome type 9|Ring chromosome 9 syndrome|r9											GARD:0001348|MESH:C538022|UMLS:CN036105|ICD10:Q93.2|Orphanet:96173|SCTID:60650002														https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9				owl:Class
MONDO:0013825	biolink:NamedThing	congenital diarrhea 6	Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.	mondoexuq1wtf	diarrhea type 6|diarrhea 6|GUCY2C congenital diarrhea|congenital diarrhea caused by mutation in GUCY2C|DIAR6|chronic diarrhea due to guanylate cyclase 2C overactivity|congenital diarrhea type 6											DOID:0060780|Orphanet:314373|UMLS:C3553270|ICD10:P78.3|OMIM:614616																		owl:Class
MONDO:0000365	biolink:NamedThing	primary congenital glaucoma	Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.	mondoexuq1wtf	primary congenital glaucoma (disease)|primary congenital glaucoma		primary congenital glaucoma (disease)									SCTID:415176004|UMLS:C1533041|DOID:0050593|UMLS:C3888011|HP:0008007|NCIT:C150251																		owl:Class
MONDO:0002748	biolink:NamedThing	rectum mucinous adenocarcinoma	An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	mondoexuq1wtf	mucinous adenocarcinoma of rectum|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of rectum|rectum mucinous adenocarcinoma|rectal colloidal adenocarcinoma|mucinous adenocarcinoma of the rectum|colloid adenocarcinoma of the rectum|colloid adenocarcinoma of rectum|colloidal adenocarcinoma of the rectum|rectal colloid adenocarcinoma											DOID:3709|UMLS:C0279652|NCIT:C7973																		owl:Class
MONDO:0003041	biolink:NamedThing	pediatric mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in children.	mondoexuq1wtf	childhood mesenchymal chondrosarcoma|mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood|pediatric mesenchymal chondrosarcoma											NCIT:C27374|UMLS:C1332982|DOID:4546																		owl:Class
MONDO:0007956	biolink:NamedThing	Pai syndrome	Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	mondoexuq1wtf	cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa|Pai syndrome|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome											ICD10:Q87.8|OMIM:155145|MESH:C536135|SCTID:722201004|UMLS:C1835087|Orphanet:1993|GARD:0003439														https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa				owl:Class
MONDO:0044683	biolink:NamedThing	limbic encephalitis with neurexin-3 antibodies		mondoexuq1wtf												Orphanet:498700																		owl:Class
MONDO:0023084	biolink:NamedThing	epiphyseal dysplasia dysmorphism camptodactyly		mondoexuq1wtf												GARD:0002177														https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly				owl:Class
MONDO:0033649	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 14		mondoexuq1wtf	MC4DN14											OMIM:619058																		owl:Class
MONDO:0004477	biolink:NamedThing	adrenal gland ganglioneuroblastoma	A ganglioneuroblastoma arising from the adrenal gland.	mondoexuq1wtf	ganglioneuroblastoma (disease) of adrenal gland|adrenal gland ganglioneuroblastoma|adrenal ganglioneuroblastoma|adrenal gland ganglioneuroblastoma (disease)											UMLS:C1332176|NCIT:C7646|DOID:8140																		owl:Class
MONDO:0030847	biolink:NamedThing	arthrogryposis, distal, type 1C		mondoexuq1wtf	arthrogryposis, distal, type 1C|DA1C											OMIM:619110																		owl:Class
MONDO:0012739	biolink:NamedThing	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	mondoexuq1wtf	Balikova-Vermeesch syndrome|microtia eye coloboma and imperforation of the nasolacrimal duct|microtia with nasolacrimal duct imperforation and eye coloboma											ICD10:Q15.8|OMIM:611863|GARD:0010300|Orphanet:139450|MESH:C567512|UMLS:C2678482																		owl:Class
MONDO:0009570	biolink:NamedThing	McDonough syndrome	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.	mondoexuq1wtf	intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|McDonough syndrome											Orphanet:2471|UMLS:C0796038|OMIM:248950|SCTID:715441004|MESH:C538158|GARD:0003424|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome				owl:Class
MONDO:0019992	biolink:NamedThing	pseudohypoparathyroidism	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).	mondoexuq1wtf												ICD10:E20.1|SCTID:58976002|DOID:4184|MedDRA:10037126|NCIT:C99027|GARD:0010758|ICD9:275.49|Orphanet:97593|MESH:D011547|UMLS:C0033806														https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism				owl:Class
MONDO:0005050	biolink:NamedThing	invasive ductal and lobular carcinoma	An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.	mondoexuq1wtf	invasive duct and lobular carcinoma|invasive ductal and lobular carcinoma|infiltrating ductal and lobular carcinoma											UMLS:C1334277|EFO:0000552|NCIT:C7688|ICDO:8522/3																		owl:Class
MONDO:0020739	biolink:NamedThing	autosomal recessive infantile hypercalcemia 1		mondoexuq1wtf	hypercalcemia, infantile, 1|HCINF1											OMIM:143880|UMLS:C0268080																		owl:Class
MONDO:0003729	biolink:NamedThing	aleukemic leukemia cutis	Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.	mondoexuq1wtf	leukemia subleukemic|aleukemic leukemia cutis											UMLS:C0887846|GARD:0006892|NCIT:C4983|DOID:6003																		owl:Class
MONDO:0003730	biolink:NamedThing	aleukemic leukemia	A leukemia characterized by the absence of leukemic cells in the peripheral blood.	mondoexuq1wtf	aleukemic myelosis|subleukemic leukemia|aleukemic leukemia										MONDO:0001605	DOID:6004|UMLS:C0877858|COHD:4121332|ICD9:208.80|DOID:12965|SCTID:302856006|NCIT:C4982																		owl:Class
MONDO:0020731	biolink:NamedThing	arbovirus infection	A viral infection that is transmitted by an arthropod.	mondoexuq1wtf	ARBOVIRUS INFECT|arbovirus infection|Arbovirus infection|Arthropod-borne viral infection|Arthropod-Borne Viral Infection|Arbovirus Infections|Arbovirus Infection|Infections, Arbovirus|arthropod-borne viral infection|Infection, Arbovirus|Arboviral disease											EFO:1001269|NCIT:C34396|SCTID:40610006|MESH:D001102|UMLS:C0003723																		owl:Class
MONDO:0007485	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 1	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.	mondoexuq1wtf	autosomal dominant dyskeratosis congenita 1|DKCA|DKCA1|dyskeratosis congenita, autosomal dominant type 1|autosomal dominant dyskeratosis congenita|dyskeratosis congenita Scoggins type|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, Scoggins type|dyskeratosis congenita autosomal dominant											GARD:0006299|DOID:0070014|SCTID:707273001|MESH:C565079|OMIM:127550														https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant				owl:Class
MONDO:0016077	biolink:NamedThing	congenital aortopulmonary window		mondoexuq1wtf	congenital aortopulmonary artery fistula|aortopulmonary fistula|aorto-pulmonary artery fistula|congenital aortopulmonary septal defect|aorta-pulmonary artery fistula											MESH:C537782|UMLS:C2931610|Orphanet:2037|ICD10:Q21.4|GARD:0000738																		owl:Class
MONDO:0018754	biolink:NamedThing	cyanide poisoning		mondoexuq1wtf												Orphanet:466670|ICD10:T65.0|SCTID:66207005|UMLS:CN242145|ICD9:989.0																		owl:Class
MONDO:0010759	biolink:NamedThing	Wildervanck syndrome	Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.	mondoexuq1wtf	COA syndrome|Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic dysplasia|cervico-oculo-acoustic syndrome											ICD10:Q87.8|ICD9:759.89|OMIM:314600|Orphanet:3456|GARD:0005569|UMLS:C0265239|MedDRA:10069402|SCTID:79665007														https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome				owl:Class
MONDO:0009667	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	mondoexuq1wtf	Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related|MDDGA3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|muscle-eye-brain-POMGNT1 related											NCIT:C126740|DOID:0111236|UMLS:C3151519|OMIM:253280																		owl:Class
MONDO:0032710	biolink:NamedThing	developmental and epileptic encephalopathy, 72		mondoexuq1wtf	epileptic encephalopathy, early infantile, 72|EIEE72|DEE72|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72											OMIM:618374																		owl:Class
MONDO:0007062	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb, unilateral	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	mondoexuq1wtf	Adactyly of hand, unilateral|adactylia, unilateral|terminal transverse defects of hand, unilateral|digits 2-5 hypodactyly, unilateral|adactylia unilateral|digits 2-5 oligodactyly, unilateral											GARD:0000377|ICD10:Q71.3|MESH:C562417|Orphanet:973|OMIM:102650														https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral				owl:Class
MONDO:0017448	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb		mondoexuq1wtf	digits 2-5 hypodactyly|digits 2-5 oligodactyly											Orphanet:294990|ICD10:Q71.3																		owl:Class
MONDO:0024392	biolink:NamedThing	anaerobic balanitis		mondoexuq1wtf	anaerobic balanitis											SCTID:236746000|UMLS:C0403764																		owl:Class
MONDO:0002916	biolink:NamedThing	brainstem intraparenchymal clear cell meningioma	A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.	mondoexuq1wtf	intraparenchymal clear cell meningioma of brainstem|intraparenchymal clear cell meningioma of the brainstem|brain stem intraparenchymal clear cell meningioma											DOID:4209|NCIT:C5295|UMLS:C1332612																		owl:Class
MONDO:0007705	biolink:NamedThing	Heinz body anemia		mondoexuq1wtf	Heinz body anemias											MESH:C563030|Orphanet:178330|OMIM:140700|ICD10:D58.2|DOID:0111363|MedDRA:10002058|UMLS:C0700299|HP:0005511|GARD:0010718																		owl:Class
MONDO:0017493	biolink:NamedThing	fibular hemimelia, bilateral		mondoexuq1wtf	fibular longitudinal meromelia, bilateral											Orphanet:295083|ICD10:Q72.6																		owl:Class
MONDO:0006832	biolink:NamedThing	limited scleroderma	The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma.	mondoexuq1wtf	systemic sclerosis, limited											UMLS:C0748540|EFO:1001017|SCTID:299276009|MESH:D045745|DOID:1577																		owl:Class
MONDO:0037847	biolink:NamedThing	vertebral joint disease	A disease that involves the intervertebral joint.	mondoexuq1wtf	disease or disorder of intervertebral joint|disorder of joint of spine|intervertebral joint disease or disorder|disorder of intervertebral joint|disease of intervertebral joint|intervertebral joint disease|spondyloarthropathy											SCTID:372109003																		owl:Class
MONDO:0006349	biolink:NamedThing	papillary cystic neoplasm	A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.	mondoexuq1wtf	papillary cystic neoplasm|papillary cystic tumor											EFO:1000448|NCIT:C4179|UMLS:C0334357																		owl:Class
MONDO:0009361	biolink:NamedThing	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius		mondoexuq1wtf	hydrocephalus due to congenital stenosis of aqueduct of Sylvius|aqueductal stenosis											OMIM:236635|UMLS:CN074258																		owl:Class
MONDO:0011799	biolink:NamedThing	autosomal recessive nonsyndromic deafness 33	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.	mondoexuq1wtf	autosomal recessive deafness 33|deafness, autosomal recessive 33|DFNB33|autosomal recessive nonsyndromic deafness type 33											DOID:0110492|UMLS:C1846576|OMIM:607239|ICD10:H90.3|MESH:C564602																		owl:Class
MONDO:0021013	biolink:NamedThing	trichothiodystrophy 4, nonphotosensitive	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.	mondoexuq1wtf	hair-brain syndrome|BIDS syndrome|trichothiodystrophy 4, nonphotosensitive|trichothiodystrophy-neurocutaneous syndrome|Amish brittle hair brain syndrome|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|Pollitt syndrome|nonphotosensitive trichothiodystrophy|TTD4|MPLKIP nonphotosensitive trichothiodystrophy|trichothiodystrophy, nonphotosensitive 1											NCIT:C146899|DOID:0050528|ICD9:704.8|SCTID:403796005|OMIM:234050|ICD9:783.43|Orphanet:75790																		owl:Class
MONDO:0032882	biolink:NamedThing	Heyn-Sproul-Jackson syndrome		mondoexuq1wtf	Microcephaly, Short Stature, and Impaired Intellectual Development|HEYN-SPROUL-JACKSON SYNDROME|HESJAS											OMIM:618724																		owl:Class
MONDO:0016172	biolink:NamedThing	acquired sensory ganglionopathy	An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired sensory neuronopathy|acquired sensory ganglionopathy											Orphanet:208984																		owl:Class
MONDO:0016104	biolink:NamedThing	infectious disease with peripheral neuropathy	An infectious process affecting the peripheral nerves.	mondoexuq1wtf	peripheral nervous system infectious disorder|peripheral nerve infection											NCIT:C27589|Orphanet:206613|UMLS:C1278821																		owl:Class
MONDO:0044917	biolink:NamedThing	T-lymphoblastic lymphoma	The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)	mondoexuq1wtf	Precur. T-lymphoblastic lymphoma|T-Lymphoblastic lymphoma|precursor T-lymphoblastic lymphoma|T Lymphoblastic lymphoma|T-lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma											EFO:1001830|NCIT:C6919|SCTID:421246008																		owl:Class
MONDO:0016901	biolink:NamedThing	partial deletion of the long arm of chromosome 2	Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	2q monosomy|2q deletion|partial monosomy of chromosome 2q|partial deletion of chromosome 2q|chromosome 2q deletion|monosomy 2q|partial monosomy 2q|partial monosomy of the long arm of chromosome 2|deletion 2q|partial deletion of the long arm of chromosome type 2											MESH:C538315|ICD10:Q93.5|UMLS:C0795804|Orphanet:262010|GARD:0003744																		owl:Class
MONDO:0016846	biolink:NamedThing	distal 22q11.2 microduplication syndrome	Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.	mondoexuq1wtf	distal trisomy 22q11.2|distal dup(22)(q11.2)											Orphanet:261337|ICD10:Q92.3|SCTID:764524005|UMLS:CN202187																		owl:Class
MONDO:0018348	biolink:NamedThing	polyglucosan body myopathy type 1		mondoexuq1wtf	PGBM1											ICD10:E74.0|Orphanet:397937																		owl:Class
MONDO:0019645	biolink:NamedThing	renal dysplasia, bilateral	Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	mondoexuq1wtf	bilateral renal dysplasia											HP:0012582|ICD10:Q61.4|Orphanet:93173|SCTID:204950001																		owl:Class
MONDO:0013011	biolink:NamedThing	atrial septal defect 5	Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.	mondoexuq1wtf	atrial septal defect 5|atrial septal defect type 5|atrial heart septal defect type 5|ACTC1 atrial heart septal defect|ASD5|atrial heart septal defect caused by mutation in ACTC1											UMLS:C2748552|DOID:0110110|MESH:C567561|ICD10:Q21.1|OMIM:612794																		owl:Class
MONDO:0023221	biolink:NamedThing	Gaucher ichthyosis restrictive dermopathy		mondoexuq1wtf												GARD:0002444														https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy				owl:Class
MONDO:0003042	biolink:NamedThing	adult mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in adults.	mondoexuq1wtf	adult mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of adults											UMLS:C1332207|DOID:4547|NCIT:C27375																		owl:Class
MONDO:0023188	biolink:NamedThing	Freiberg disease	Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.	mondoexuq1wtf	Osteochondrosis of the metatarsal head, usually the second|Kohler's second disease|Freiberg-Kohler syndrome|Freiberg's disease|second metatarsal osteochondrosis|Freiberg's infraction											SCTID:28466007|UMLS:C0264099|GARD:0002380|MESH:C535636														https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease				owl:Class
MONDO:0007472	biolink:NamedThing	basal laminar drusen	A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.	mondoexuq1wtf	drusen, cuticular|basal laminar drusen|drusen of Bruch membrane|cuticular drusen|drusen, early adult-onset, grouped|early adult-onset grouped drusen											MESH:C563034|ICD10:H35.5|OMIM:126700|DOID:0060746|UMLS:C0730295																		owl:Class
MONDO:0001946	biolink:NamedThing	hyperestrogenism	Abnormally high level of estrogen.	mondoexuq1wtf	hyperestrogenism|estrogen Excess					Editor note: consider obsoleting and replacing with HPO class. Note the equivalent class in NCIT is a finding.						COHD:200677|ICD10:E28.0|EFO:0009004|ICD9:256.0|DOID:14336|UMLS:C0154209|SCTID:37295009																		owl:Class
MONDO:0001889	biolink:NamedThing	ovarian dysfunction	The inability of the ovaries to function.	mondoexuq1wtf	ovarian insufficiency|ovarian failure|ovarian hypofunction											ICD9:256.9|DOID:1414|ICD9:256.8|SCTID:37102008|ICD9:256.3|NCIT:C113351|EFO:0009003|ICD10:E28|ICD9:256.39																		owl:Class
MONDO:0002163	biolink:NamedThing	thymus lipoma	A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.	mondoexuq1wtf	thymus lipoma|Thymolipoma|Thymolipomatous hamartoma|lipoma of thymus											NCIT:C6452|UMLS:C1336744|DOID:1975																		owl:Class
MONDO:0011723	biolink:NamedThing	hemifacial myohyperplasia	Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.	mondoexuq1wtf	HMH|hypertrophy and asymmetry of the facial muscles|hemifacial myohyperplasia											GARD:0010084|OMIM:606773|ICD9:744.89|ICD10:Q67.4|Orphanet:141148|MESH:C535862|SCTID:699420006														https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia				owl:Class
MONDO:0032636	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 33		mondoexuq1wtf	MC1DN33|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33											OMIM:618253																		owl:Class
MONDO:0002464	biolink:NamedThing	lacrimal gland cancer	A malignant neoplasm involving the lacrimal gland.	mondoexuq1wtf	malignant neoplasm of the lacrimal gland|lacrimal gland cancer|malignant lacrimal gland neoplasm|malignant tumour of lacrimal gland|tumor of the lacrimal gland|malignant tumor of lacrimal gland|malignant lacrimal gland tumor|malignant tumor of the lacrimal gland|cancer of lacrimal gland|malignant neoplasm of lacrimal gland											DOID:294|COHD:4092530|NCIT:C3563|ICD9:190.2|SCTID:127004000|ICD9:239.89																		owl:Class
MONDO:0001737	biolink:NamedThing	tetanus neonatorum	A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.	mondoexuq1wtf	neonatal tetanus											UMLS:C0343312|ICD9:771.3|SCTID:43424001|NCIT:C116814|DOID:13521|ICD10:A33																		owl:Class
MONDO:0009663	biolink:NamedThing	mucus inspissation of respiratory tract		mondoexuq1wtf	mucus inspissation of respiratory tract											UMLS:C1854729|MESH:C565366|OMIM:253240																		owl:Class
MONDO:0030014	biolink:NamedThing	muscular dystrophy, limb-girdle, autosomal recessive 26		mondoexuq1wtf	LGMDR26|muscular dystrophy, limb-girdle, autosomal recessive 26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26											OMIM:618848																		owl:Class
MONDO:0020563	biolink:NamedThing	Dedifferentiated liposarcoma	Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.	mondoexuq1wtf	Dedifferentiated liposarcoma|DDLS											ICD10:C49.9|ICD9:171.9|SCTID:404072004|UMLS:C0205824|ICDO:8858/3|ONCOTREE:DDLS|Orphanet:99970|DOID:0080531|EFO:0003085|NCIT:C3704																		owl:Class
MONDO:0022586	biolink:NamedThing	bone dysplasia Moore type		mondoexuq1wtf												GARD:0000923														https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type				owl:Class
MONDO:0014446	biolink:NamedThing	Bardet-Biedl syndrome 18	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.	mondoexuq1wtf	BBIP1 Bardet-Biedl syndrome|BBS18|Bardet-Biedl syndrome type 18|Bardet-Biedl syndrome 18|Bardet-Biedl syndrome caused by mutation in BBIP1											ICD10:Q87.89|UMLS:C3806174|OMIM:615995|DOID:0110140																		owl:Class
MONDO:0007585	biolink:NamedThing	exostoses, multiple, type 1	Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.	mondoexuq1wtf	multiple osteochondromas|EXT1 exostoses, multiple|multiple cartilaginous exostoses|osteochondromatosis|exostoses, multiple caused by mutation in EXT1|EXT|exostoses, multiple, type I|diaphyseal Aclasis											GARD:0002204|OMIM:133700														https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1				owl:Class
MONDO:0018957	biolink:NamedThing	pudendal neuralgia	Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.	mondoexuq1wtf	Pudendalgia|pudendal neuralgia by pudendal nerve entrapment|pudendal nerve entrapment syndrome|neuralgia of pudendal nerve|pudendal algia|Alcock syndrome|pudendal nerve neuralgia											ICD9:729.2|UMLS:C3178970|SCTID:427972000|ICD10:M79.2|UMLS:CN226268|UMLS:C1997249|GARD:0010713|Orphanet:60039|MESH:D060545														https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia				owl:Class
MONDO:0009779	biolink:NamedThing	autosomal recessive omodysplasia	Autosomal recessive form of omodysplasia.	mondoexuq1wtf	omodysplasia type 1|omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia generalized form|OMOD1|omodysplasia autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius|omodysplasia, autosomal recessive|micromelic dysplasia congenita with dislocation of radius|omodysplasia 1											UMLS:C1850318|SCTID:725166005|Orphanet:93329|OMIM:258315|GARD:0004076|ICD10:Q78.8																		owl:Class
MONDO:0017136	biolink:NamedThing	omodysplasia	Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	mondoexuq1wtf												UMLS:C4510897|Orphanet:2733|DOID:0060288|OMIMPS:258315|ICD10:Q78.8|SCTID:725164008																		owl:Class
MONDO:0001446	biolink:NamedThing	low compliance bladder		mondoexuq1wtf	hypertonicity of bladder|hypertonic bladder|hyperactivity of bladder|low bladder compliance											COHD:76153|DOID:12144|ICD9:596.52|UMLS:C0489967|SCTID:9009001																		owl:Class
MONDO:0032805	biolink:NamedThing	hypopigmentation, organomegaly, and delayed myelination and development		mondoexuq1wtf	HOD|HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT											OMIM:618541																		owl:Class
MONDO:0019889	biolink:NamedThing	distal trisomy 22q	Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	mondoexuq1wtf	trisomy 22qter|telomeric duplication 22q|distal duplication 22q|distal trisomy type 22q											Orphanet:96109|ICD10:Q92.3|SCTID:764512003																		owl:Class
MONDO:0007775	biolink:NamedThing	hypersecretion of adrenal androgens, familial		mondoexuq1wtf	hypersecretion of adrenal androgens, familial|familial hypersecretion of adrenal androgens											MESH:C536845|OMIM:145295|GARD:0009593|UMLS:C1840387														https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens				owl:Class
MONDO:0018812	biolink:NamedThing	MSH3-related attenuated familial adenomatous polyposis		mondoexuq1wtf	MSH3-related attenuated FAP|MSH3-related AFAP|MSH3-related attenuated familial polyposis coli											Orphanet:480536|UMLS:CN776886																		owl:Class
MONDO:0013974	biolink:NamedThing	ectodermal dysplasia 6, hair/nail type		mondoexuq1wtf	ECTD6|ectodermal dysplasia 6, hair/nail type											OMIM:614928|DOID:0111659|UMLS:C3554111																		owl:Class
MONDO:0009123	biolink:NamedThing	dopamine beta-hydroxylase deficiency	Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.	mondoexuq1wtf	dopamine BETA-HYDROXYLASE deficiency, congenital|norepinephrine deficiency|noradrenaline deficiency|dopamine beta hydroxylase deficiency|congenital dopamine beta-hydroxylase deficiency											OMIM:223360|UMLS:C0342687|SCTID:237923004|MESH:C535600|Orphanet:230|ICD10:G90.8|GARD:0001903|DOID:0090145|GARD:1903|ICD9:270.8														https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency				owl:Class
MONDO:0016951	biolink:NamedThing	partial trisomy/tetrasomy of the short arm of chromosome 18		mondoexuq1wtf	partial duplication/triplication of the short arm of chromosome 18|partial duplication/triplication of chromosome 18p|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18											Orphanet:262812																		owl:Class
MONDO:0007707	biolink:NamedThing	hemangiomas of small intestine	A hemangioma that involves the small intestine.	mondoexuq1wtf	hemangioma of small intestine|hemangiomas of small intestine|small intestine hemangioma											MESH:C564201|OMIM:140900|UMLS:C1841654																		owl:Class
MONDO:0029148	biolink:NamedThing	spermatogenic failure 34		mondoexuq1wtf	SPGF34|SPERMATOGENIC FAILURE 34											OMIM:618153																		owl:Class
MONDO:0032803	biolink:NamedThing	immunodeficiency 64		mondoexuq1wtf	IMD64|IMMUNODEFICIENCY 64											OMIM:618534																		owl:Class
MONDO:0044903	biolink:NamedThing	myelofibrosis	A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003	mondoexuq1wtf	myelofibrosis											NCIT:C3248																		owl:Class
MONDO:0030071	biolink:NamedThing	retinitis pigmentosa 89		mondoexuq1wtf	RP89|RETINITIS PIGMENTOSA 89|retinitis pigmentosa 89											OMIM:618955																		owl:Class
MONDO:0006843	biolink:NamedThing	macular holes	A hole in the macula of the retina.	mondoexuq1wtf	macular hole											UMLS:C0024441|DOID:7633|NCIT:C34795|SCTID:232006002|EFO:1001028																		owl:Class
MONDO:0004198	biolink:NamedThing	testicular yolk sac tumor, solid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.	mondoexuq1wtf	testicular yolk sac tumor, solid pattern|solid pattern testicular yolk sac tumor											NCIT:C39925|UMLS:C1515312|DOID:7360																		owl:Class
MONDO:0018513	biolink:NamedThing	squamous cell carcinoma of colon	A squamous cell carcinoma that involves the colon.	mondoexuq1wtf	colon epidermoid carcinoma|epidermoid carcinoma of the colon|squamous cell carcinoma of the colon|squamous cell carcinoma of colon|colon squamous cell carcinoma|colon squamous cell cancer|colonic squamous cell carcinoma|squamous cell colon carcinoma|epidermoid carcinoma of colon|colonic epidermoid carcinoma											ICD10:C18.7|UMLS:C1333100|ICD10:C18.3|Orphanet:423994|ICD10:C18.9|NCIT:C5490|ICD10:C18.8|DOID:5519|UMLS:CN237518|ICD10:C18.0|ICD10:C18.4|ICD10:C18.2|ICD10:C18.6|ICD10:C18.5|SCTID:766981007																		owl:Class
MONDO:0019858	biolink:NamedThing	idiopathic congenital hypothyroidism	Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.	mondoexuq1wtf												UMLS:C4273913|ICD10:E03.1|SCTID:717334008|Orphanet:95717																		owl:Class
MONDO:0000397	biolink:NamedThing	ataxic cerebral palsy	A form of cerebral palsy caused by damage to cerebellar structures.	mondoexuq1wtf												NCIT:C97168|ICD9:343.8|UMLS:C0394005|DOID:0050670|SCTID:278512001																		owl:Class
MONDO:0004042	biolink:NamedThing	urethra inverted papilloma	A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.	mondoexuq1wtf	inverted papilloma of the urethra|urethral inverted papilloma|inverted papilloma of urethra|urethra inverted papilloma											UMLS:C1336887|DOID:6934|NCIT:C6173																		owl:Class
MONDO:0002221	biolink:NamedThing	urethral urothelial papilloma	Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003	mondoexuq1wtf	urethral urothelial papilloma|urethra urothelial papilloma											DOID:2140|NCIT:C5061|UMLS:C1519826																		owl:Class
MONDO:0014960	biolink:NamedThing	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy		mondoexuq1wtf	PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy											UMLS:C4310675|OMIMPS:617186																		owl:Class
MONDO:0017648	biolink:NamedThing	Sydenham chorea		mondoexuq1wtf												MedDRA:10042732|ICD10:I02.9|GARD:0007716|Orphanet:306731|ICD10:I02.0																		owl:Class
MONDO:0012546	biolink:NamedThing	nephrotic syndrome, type 3	Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.	mondoexuq1wtf	nephrotic syndrome, early-onset, type 3|NPHS3|nephrotic syndrome caused by mutation in PLCE1|nephrotic syndrome, type 3|PLCE1 nephrotic syndrome											DOID:0080382|UMLS:C1853124|OMIM:610725																		owl:Class
MONDO:0007881	biolink:NamedThing	tooth agenesis, selective, 4	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.	mondoexuq1wtf	succedaneous teeth, agenesis of|tooth agenesis caused by mutation in WNT10A|tooth agenesis, selective, type 4|STHAG4|tooth agenesis, selective, 4, with or without ectodermal dysplasia|WNT10A tooth agenesis|lateral incisors, pegged or missing|tooth agenesis, selective, 4|lateral incisors, absence of											MESH:C563634|OMIM:150400														https://github.com/monarch-initiative/mondo/issues/3293				owl:Class
MONDO:0012261	biolink:NamedThing	autism, susceptibility to, 6		mondoexuq1wtf	AUTS6|autism, susceptibility to, 6											UMLS:C1836271|OMIM:609378																		owl:Class
MONDO:0012577	biolink:NamedThing	asthma-related traits, susceptibility to, 4		mondoexuq1wtf	asthma-related traits, susceptibility to, type 4|ASRT4|asthma and allergic rhinitis, susceptibility to|asthma-related traits, susceptibility to, 4											OMIM:610906																		owl:Class
MONDO:0016762	biolink:NamedThing	microcornea-corectopia-macular hypoplasia syndrome	Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.	mondoexuq1wtf	microcornea corectopia macular hypoplasia											ICD10:Q15.8|Orphanet:2535|MESH:C537551|GARD:0003636|UMLS:C2931531																		owl:Class
MONDO:0019962	biolink:NamedThing	thyroid lymphoma	A lymphoma primarily involving the thyroid gland.	mondoexuq1wtf	lymphoma of the thyroid|primary thyroid gland lymphoma|lymphoma of thyroid gland|lymphoma of thyroid|lymphoma of the thyroid gland|thyroid gland lymphoma|thyroid lymphoma											Orphanet:97285|UMLS:C1336753|ICD10:C85.7|NCIT:C5265|DOID:10011																		owl:Class
MONDO:0008101	biolink:NamedThing	familial supernumerary nipples	Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.	mondoexuq1wtf	polymastia|polythelia, familial|accessory nipples|nipples, supernumerary|isolated polythelia											Orphanet:2456|OMIM:163700|ICD10:Q83.3																		owl:Class
MONDO:0021509	biolink:NamedThing	benign neoplasm of myocardium	A benign neoplasm that involves the myocardium.	mondoexuq1wtf	myocardium benign neoplasm|benign myocardial tumor|benign tumor of myocardium|benign neoplasm of the myocardium|benign tumor of the myocardium|benign myocardial neoplasm											SCTID:92238001|NCIT:C4607|UMLS:C0347253																		owl:Class
MONDO:0000945	biolink:NamedThing	venous insufficiency	Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.	mondoexuq1wtf	venous insufficiency (disease)|peripheral venous insufficiency|venous insufficiency		venous insufficiency (disease)									MESH:D014689|DOID:10128|HP:0005293|UMLS:C0042485|SCTID:20696009|ICD9:459.81|COHD:321596																		owl:Class
MONDO:0019017	biolink:NamedThing	short fifth metacarpals-insulin resistance syndrome	Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.	mondoexuq1wtf												UMLS:CN205478|Orphanet:66518|ICD10:E13																		owl:Class
MONDO:0010182	biolink:NamedThing	hypercarotenemia and vitamin A deficiency, autosomal recessive		mondoexuq1wtf	hypercarotenemia and vitamin A deficiency, autosomal recessive											MESH:C567486|UMLS:C2678266|OMIM:277350																		owl:Class
MONDO:0018090	biolink:NamedThing	double outlet left ventricle	Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.	mondoexuq1wtf	DOLV|double outlet left ventricle (disease)|Double outlet left ventricle		double outlet left ventricle (disease)									ICD10:Q20.2|Orphanet:3427|SCTID:7368005|ICD9:745.19|GARD:0001907|HP:0011581																		owl:Class
MONDO:0001671	biolink:NamedThing	mucocele of appendix	Accumulation of mucus within the appendix.	mondoexuq1wtf	appendiceal mucocele|Appendicele mucocele|mucocele of the appendix											DOID:13248|SCTID:53773002|ICD9:543.9|UMLS:C0026684|NCIT:C3241																		owl:Class
MONDO:0010751	biolink:NamedThing	unique green phenomenon		mondoexuq1wtf	unique green phenomenon											UMLS:C1839116|OMIM:314380																		owl:Class
MONDO:0032829	biolink:NamedThing	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities		mondoexuq1wtf	NEDHIB|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES											OMIM:618603																		owl:Class
MONDO:0013159	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1		mondoexuq1wtf	congenital muscular dystrophy-POMT1 related|MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy, congenital, Pomt1-related											OMIM:613155|UMLS:C3150415																		owl:Class
MONDO:0001956	biolink:NamedThing	capillary leak syndrome	A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.	mondoexuq1wtf	CLS|periodic systemic capillary leak syndrome|Clarkson disease|capillary leak syndrome|acute vascular leak syndrome|AVLS|SCLS|capillary hyperpermeability syndrome|capillary leak syndrome with monoclonal gammopathy|idiopathic capillary leak syndrome|systemic capillary leak syndrome											GARD:0001084|ICD10:I78.8|ICD9:448.9|UMLS:C0343084|MedDRA:10007196|NCIT:C62578|Orphanet:188|SCTID:87730004|MESH:D019559|DOID:14400																		owl:Class
MONDO:0002361	biolink:NamedThing	transverse colon cancer	A malignant neoplasm involving the transverse colon.	mondoexuq1wtf	malignant transverse colon neoplasm|malignant neoplasm of transverse colon|Ca transverse colon|cancer of transverse colon|malignant tumor of transverse colon|transverse colon cancer											SCTID:363408006|ICD9:153.1|ICD10:C18.4|UMLS:C0153434|DOID:261																		owl:Class
MONDO:0013717	biolink:NamedThing	asphyxiating thoracic dystrophy 5	Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.	mondoexuq1wtf	SRTD5|asphyxiating thoracic dystrophy 5|short-rib thoracic dysplasia 5 with or without polydactyly|ATD5|Jeune syndrome caused by mutation in WDR19|asphyxiating thoracic dystrophy type 5|WDR19 Jeune syndrome											ICD10:Q77.2|DOID:0110089|OMIM:614376|UMLS:C3280598																		owl:Class
MONDO:0005447	biolink:NamedThing	testicular cancer	A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.	mondoexuq1wtf	testis neoplasm|malignant testicular neoplasm|malignant testicular tumor|cancer of testis|malignant neoplasm of testis|malignant testis neoplasm|testis cancer|testicular tumor|malignant tumor of testis|malignant tumor of the testis|malignant neoplasm of the testis											ICD10:C62|ICD10:C62.9|GARD:0007746|SCTID:363449006|ICD9:186.9|DOID:2998|NCIT:C7251|MESH:D013736|ICD10:C62.90|EFO:0005088|ICD9:186																		owl:Class
MONDO:0012871	biolink:NamedThing	Jervell and Lange-Nielsen syndrome 2	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	mondoexuq1wtf	JLNS2|Jervell and Lange-Nielsen syndrome type 2|Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|KCNE1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 2											GARD:0010364|OMIM:612347|MESH:C567343														https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2				owl:Class
MONDO:0009725	biolink:NamedThing	nemaline myopathy 2	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.	mondoexuq1wtf	NEB nemaline myopathy|nemaline myopathy 2, autosomal recessive|NEM2|nemaline myopathy caused by mutation in NEB|nemaline myopathy type 2|nemaline myopathy 2											UMLS:CN187052|MESH:C538349|UMLS:C1850569|OMIM:256030|DOID:0110928|NCIT:C118784																		owl:Class
MONDO:0032916	biolink:NamedThing	Imagawa-Matsumoto syndrome		mondoexuq1wtf	IMAGAWA-MATSUMOTO SYNDROME|IMMAS											OMIM:618786																		owl:Class
MONDO:0004582	biolink:NamedThing	rheumatic myocarditis	Inflammation of the myocardium in acute rheumatic heart disease.	mondoexuq1wtf	acute rheumatic myocarditis (disorder) [ambiguous]|rheumatic degeneration of myocardium|acute rheumatic carditis|rheumatic fever with myocarditis|acute rheumatic myocarditis|rheumatic myocarditis|rheumatoid myocarditis|active rheumatic fever with myocarditis											DOID:8481|ICD10:I09.0|ICD10:I01.9|UMLS:C0155557|SCTID:195136004|NCIT:C35202|ICD9:398.0|COHD:320743|ICD10:M05.3|ICD9:391.9																		owl:Class
MONDO:0001231	biolink:NamedThing	orbital periostitis		mondoexuq1wtf												DOID:11231|SCTID:65974003|COHD:442634|ICD9:376.02|ICD10:H05.03|UMLS:C0155257																		owl:Class
MONDO:0014316	biolink:NamedThing	Alzheimer disease 19	Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.	mondoexuq1wtf	Alzheimer's disease type 19|Alzheimer disease 19|Alzheimer disease 19, late-onset|AD19|Alzheimer disease caused by mutation in PLD3|PLD3 Alzheimer disease|Alzheimer's disease 19|Alzheimer disease 19 late onset|Alzheimer disease type 19											UMLS:C3810349|OMIM:615711|DOID:0110051																		owl:Class
MONDO:0020489	biolink:NamedThing	familial hyperreninemic hypoaldosteronism type 1		mondoexuq1wtf	CMO II|aldosterone synthase deficiency|CMO I|18-hydroxylase deficiency|FHHA1|corticosterone methyloxidase deficiency type I|18-oxidase deficiency											UMLS:C4289986|ICD10:E27.4|Orphanet:99763																		owl:Class
MONDO:0009812	biolink:NamedThing	osteomalacia, sclerosing, with cerebral calcification		mondoexuq1wtf	osteomalacia, sclerosing, with cerebral calcification											OMIM:259660|UMLS:C1850141|MESH:C564916																		owl:Class
MONDO:0016655	biolink:NamedThing	6p22 microdeletion syndrome	6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.	mondoexuq1wtf	Del(6)(p22)|monosomy 6p22											UMLS:CN201884|SCTID:719662000|ICD10:Q93.5|UMLS:C4304528|Orphanet:251046																		owl:Class
MONDO:0044001	biolink:NamedThing	hearing loss, mixed conductive-sensorineural	Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.	mondoexuq1wtf	mixed conductive and sensorineural hearing loss|mixed deafness|mixed conductive and sensorineural deafness|Losses, mixed hearing|mixed type deafness|loss, mixed hearing|mixed hearing loss|hearing loss, mixed|hearing loss, mixed conductive sensorineural											SCTID:77507001|MESH:D046089|EFO:1001803|NCIT:C26974|UMLS:C0155552																		owl:Class
MONDO:0011726	biolink:NamedThing	peripheral arterial occlusive disease 1		mondoexuq1wtf	peripheral arterial occlusive disease 1|Paod1|peripheral arterial occlusive disease type 1											MESH:C564658|OMIM:606787|UMLS:C1847493																		owl:Class
MONDO:0035357	biolink:NamedThing	portosinusoidal vascular disease		mondoexuq1wtf	PSVD											ICD10:K76.8|Orphanet:596937																		owl:Class
MONDO:0021531	biolink:NamedThing	fibroma of lung	A fibroma that involves the lung.	mondoexuq1wtf	lung fibroma|pulmonary fibroma|fibroma of the lung											NCIT:C5658|SCTID:707387004|UMLS:C1334444																		owl:Class
MONDO:0016407	biolink:NamedThing	oligomeganephronia	Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.	mondoexuq1wtf	Oligomeganephronic renal hypoplasia											DOID:0111142|UMLS:C0431694|ICD10:Q60.4|GARD:0004066|Orphanet:2260|GARD:4066|NCIT:C123202|SCTID:18417009																		owl:Class
MONDO:0021673	biolink:NamedThing	post-bacterial disorder		mondoexuq1wtf																														owl:Class
MONDO:0007711	biolink:NamedThing	Bencze syndrome	Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	mondoexuq1wtf	hemifacial hyperplasia-strabismus syndrome|hemifacial hyperplasia with strabismus|hemifacial hyperplasia strabismus|Bencze syndrome											SCTID:733046006|ICD10:Q67.4|GARD:0002633|Orphanet:1241|MESH:C564199|OMIM:141350|UMLS:C1841640														https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus				owl:Class
MONDO:0005963	biolink:NamedThing	sparganosis	A condition resulting from infection with the second stage larvae of the parasite Spirometra.	mondoexuq1wtf	Spirometra infectious disease|infection by sparganum|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|Spirometra disease or disorder											ICD9:123.5|DOID:10080|MESH:D013031|UMLS:C0037753|SCTID:31659000|ICD10:B70.1|EFO:0007488|NCIT:C35030																		owl:Class
MONDO:0032888	biolink:NamedThing	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies		mondoexuq1wtf	NEDBAVC|NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES											OMIM:618731																		owl:Class
MONDO:0007241	biolink:NamedThing	bundle branch block, familial isolated complete right		mondoexuq1wtf	bundle branch block, familial isolated complete right											UMLS:C0340504|MESH:C562759|OMIM:113950|SCTID:233919006																		owl:Class
MONDO:0021505	biolink:NamedThing	benign neoplasm of endocardium	A benign neoplasm that involves the endocardium.	mondoexuq1wtf	benign endocardial tumor|benign endocardial neoplasm|benign tumor of the endocardium|benign tumor of endocardium|endocardium benign neoplasm|benign neoplasm of the endocardium											NCIT:C4608|SCTID:92083007|UMLS:C0347254																		owl:Class
MONDO:0021378	biolink:NamedThing	neoplasm of endocardium	A neoplasm (disease) that involves the endocardium.	mondoexuq1wtf	endocardium neoplasm|endocardium neoplasm (disease)|tumor of the endocardium|endocardial tumor|endocardial neoplasm|neoplasm of endocardium|tumor of endocardium|neoplasm of the endocardium|endocardium tumor											SCTID:126731002|NCIT:C5346|ICD9:239.89|UMLS:C1290401																		owl:Class
MONDO:0010709	biolink:NamedThing	early-onset parkinsonism-intellectual disability syndrome	Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	mondoexuq1wtf	X-linked recessive basal ganglia disorder with mental retardation|basal ganglion disorder with intellectual disability|basal ganglia disorder with intellectual disability|Parkinsonism, early onset with intellectual disability|Parkinsonism, early-onset, with intellectual disability|Wsn|X-linked recessive basal ganglia disorder with intellectual disability|Parkinsonism, early-onset, with mental retardation|Laxova Brown hogan syndrome|WSMN|basal ganglion disorder with mental retardation|Parkinsonism, early onset with mental retardation|Laxova-Opitz syndrome|Waisman syndrome|WAISMAN syndrome|BGMR|basal ganglia disorder with mental retardation											GARD:0003203|UMLS:C0796195|ICD10:G20|DOID:0111781|MESH:C537179|OMIM:311510|SCTID:716107009|Orphanet:2379																		owl:Class
MONDO:0016662	biolink:NamedThing	idiopathic recurrent pericarditis	Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.	mondoexuq1wtf	idiopathic relapsing pericarditis											SCTID:766704005|Orphanet:251307|ICD10:I09.2																		owl:Class
MONDO:0021607	biolink:NamedThing	eyelid seborrheic keratosis	A seborrheic keratosis that involves the eyelid.	mondoexuq1wtf	seborrheic keratosis of the eyelid|basal cell papilloma of the eyelid|basal cell papilloma of eyelid|seborrheic keratosis of eyelid|eyelid basal cell papilloma|eyelid seborrheic keratosis											UMLS:C0339109|NCIT:C4356|SCTID:231826004																		owl:Class
MONDO:0011212	biolink:NamedThing	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth		mondoexuq1wtf	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth											OMIM:602340|UMLS:C1865645|MESH:C566560																		owl:Class
MONDO:0000411	biolink:NamedThing	electroclinical syndrome	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.	mondoexuq1wtf	electro-clinical syndrome											DOID:0050701																		owl:Class
MONDO:0009125	biolink:NamedThing	dopamine beta-hydroxylase, plasma, thermolability of		mondoexuq1wtf	dopamine beta-hydroxylase, plasma, thermolability of											OMIM:223380																		owl:Class
MONDO:0006005	biolink:NamedThing	Venezuelan equine encephalitis	A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.	mondoexuq1wtf	Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus caused disease or disorder|Venezuelan equine fever|Venezuelan equine encephalitis virus infectious disease											UMLS:C0014078|SCTID:417067005|NCIT:C35121|DOID:9584|EFO:0007534|ICD10:A92.2|ICD9:066.2|MESH:D004685|GARD:0006355														https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis				owl:Class
MONDO:0016305	biolink:NamedThing	atypical pantothenate kinase-associated neurodegeneration		mondoexuq1wtf	PKAN, atypical form|NBIA1, atypical form|neurodegeneration with brain iron accumulation type 1, atypical form											UMLS:CN201110|Orphanet:216873|ICD10:G23.0																		owl:Class
MONDO:0007564	biolink:NamedThing	pilomatrixoma	Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.	mondoexuq1wtf	pilomatrixoma|calcifying Epitherlioma of Malherbe|calcifying epithelioma of Malherbe|benign pilomatricoma|benign pilomatrixoma|epithelioma calcificans of Malherbe|pilomatrixoma, benign|PTR|benign hair follicle neoplasm|pilomatricoma											ICDO:8110/0|DOID:5374|MESH:D018296|ICD10:C44.3|NCIT:C7368|EFO:0009082|GARD:0009452|SCTID:274901004|UMLS:C0853031|MedDRA:10035040|Orphanet:91414|ICD10:C44.6|OMIM:132600|UMLS:C0206711														https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma				owl:Class
MONDO:0003215	biolink:NamedThing	apocrine sweat gland cancer	A malignant neoplasm involving the apocrine sweat gland.	mondoexuq1wtf	malignant apocrine tumor of skin|malignant apocrine tumor of the skin|malignant apocrine skin tumor|malignant apocrine neoplasm of the skin|cancer of apocrine sweat gland|malignant apocrine tumor|malignant apocrine neoplasm|malignant neoplasm of apocrine sweat gland|apocrine sweat gland cancer|malignant apocrine sweat gland neoplasm|malignant apocrine skin neoplasm|malignant apocrine neoplasm of skin											UMLS:C1334561|NCIT:C6800|DOID:4934																		owl:Class
MONDO:0037807	biolink:NamedThing	glycerol metabolism disease	A disease that has its basis in the disruption of glycerol metabolic process.	mondoexuq1wtf	glycerol metabolic process disease|disorder of glycerol metabolic process|disorder of glycerol metabolism											UMLS:C0342762|SCTID:237977000																		owl:Class
MONDO:0008387	biolink:NamedThing	ring dermoid of cornea	Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.	mondoexuq1wtf	ring dermoid of cornea|Ring dermoid syndrome|RDC|RING dermoid of cornea|bilateral, annular limbal dermoids with corneal and conjunctival extension											UMLS:C1867155|GARD:0009696|OMIM:180550|Orphanet:91481|SCTID:723499000|DOID:0111548|ICD10:D31.1|MESH:C535684														https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea				owl:Class
MONDO:0014734	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 14		mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, 14; EIG14|epilepsy, idiopathic generalized, susceptibility to, type 14|epilepsy, idiopathic generalized, susceptibility to, 14|EIG14|susceptibility to idiopathic generalized epilepsy 14											OMIM:616685|DOID:0111315																		owl:Class
MONDO:0001576	biolink:NamedThing	telangiectasis	Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.	mondoexuq1wtf	telangiectasia											SCTID:247479008|DOID:1272|MESH:D013684|NCIT:C28194|UMLS:C0039446																		owl:Class
MONDO:0020846	biolink:NamedThing	intellectual disability, autosomal recessive 64		mondoexuq1wtf	MENTAL RETARDATION, autosomal recessive 64|MRT64											OMIM:618103																		owl:Class
MONDO:0012792	biolink:NamedThing	mitochondrial DNA depletion syndrome 8a	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.	mondoexuq1wtf	mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial DNA depletion syndrome caused by mutation in RRM2B|RRM2B mitochondrial DNA depletion syndrome|RRM2B-related mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome type 8a|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|mitochondrial DNA depletion syndrome 8B (Mngie type)|MTDPS8A|Mngie, Rrm2B-related|encephalomyopathic type with renal tubulopathy|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive											ICD10:G31.8|Orphanet:255235|DOID:0080127|SCTID:765100000|GARD:0013200|OMIM:612075																		owl:Class
MONDO:0022557	biolink:NamedThing	behrens baumann dust syndrome		mondoexuq1wtf	oculo-cerebral dysplasia											MESH:C537670																		owl:Class
MONDO:0032835	biolink:NamedThing	spondyloepiphyseal dysplasia, nishimura type		mondoexuq1wtf	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE|SEDN											OMIM:618618																		owl:Class
MONDO:0018668	biolink:NamedThing	scedosporiosis		mondoexuq1wtf												ICD10:B48.7|Orphanet:449280																		owl:Class
MONDO:0001848	biolink:NamedThing	Morgagni cataract	A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.	mondoexuq1wtf	hypermature cataract|Morgagnian cataract											SCTID:264443002|UMLS:C0152258|DOID:13964|COHD:379811|ICD9:366.18																		owl:Class
MONDO:0045049	biolink:NamedThing	hypermature cataract		mondoexuq1wtf	hypermature cataract											ICD9:366.18|SCTID:267626000																		owl:Class
MONDO:0007390	biolink:NamedThing	coumarin resistance		mondoexuq1wtf	warfarin resistance|coumarin resistance|warfarin sensitivity|coumarin, poor metabolism of|coumarin sensitivity											GARD:0012639|UMLS:CN078029|SCTID:726543008|UMLS:C0750384|GARD:0012721|OMIM:122700																		owl:Class
MONDO:0008599	biolink:NamedThing	trigeminal neuralgia	Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.	mondoexuq1wtf	trigeminal nerve neuralgia|trifocal neuralgia|trifacial neuralgia|Tic douloureux|trigeminal neuralgia|neuralgia of trigeminal nerve											EFO:1001219|SCTID:31681005|ICD10:G50.0|COHD:379801|MESH:D014277|DOID:12098|OMIM:190400|Orphanet:221091|GARD:0007805|ICD9:350.1|UMLS:C0040997|MedDRA:10044652														https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia				owl:Class
MONDO:0008139	biolink:NamedThing	OSLAM syndrome	OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.	mondoexuq1wtf	osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|OSLAM syndrome											ICD10:C41.9|OMIM:165660|GARD:0004129|SCTID:733064004|UMLS:C1833792|Orphanet:2760|MESH:C537138																		owl:Class
MONDO:0010255	biolink:NamedThing	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		mondoexuq1wtf	diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx|insulin-dependent diabetes mellitus, X-linked, susceptibility to											UMLS:C1848042|OMIM:300136																		owl:Class
MONDO:0016965	biolink:NamedThing	partial duplication of the long arm of chromosome 15	Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	chromosome 15q duplication|partial trisomy of the long arm of chromosome 15|partial trisomy of chromosome 15q|15q trisomy|trisomy 15q|partial trisomy 15q|partial duplication of the long arm of chromosome type 15|15q duplication|partial duplication of chromosome 15q|Duplication 15q											GARD:0005314|UMLS:C0795858|Orphanet:262950|MESH:C538040																		owl:Class
MONDO:0024873	biolink:NamedThing	clitoral carcinoma	A carcinoma that arises from the clitoris.	mondoexuq1wtf	clitoral carcinoma|carcinoma of clitoris|carcinoma of the clitoris|clitoris carcinoma|clitoral cancer											UMLS:C1333070|NCIT:C9362																		owl:Class
MONDO:0008891	biolink:NamedThing	riboflavin transporter deficiency	Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.	mondoexuq1wtf	progressive bulbar palsy with sensorineural deafness|BVVLS|sensorineural hearing loss-pontobulbar palsy syndrome|Brown-Vialetto-Van Laere syndrome 1|BVVLS1|Brown-Vialetto-van Laere syndrome|pontobulbar palsy and neurosensory deafness|riboflavin transmembrane transporter activity disease|Fazio-Londe syndrome|disorder of riboflavin transmembrane transporter activity											Orphanet:97229|DOID:0050694|MESH:C537111|GARD:0009993|SCTID:699866005|OMIMPS:211530|ICD10:G12.1																		owl:Class
MONDO:0000487	biolink:NamedThing	hemidystonia	A multifocal dystonia that involves the arm and leg on the same side of the body.	mondoexuq1wtf												UMLS:C1960561|ICD9:333.99|DOID:0050846|SCTID:427232004																		owl:Class
MONDO:0018850	biolink:NamedThing	proliferating trichilemmal cyst	Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.	mondoexuq1wtf	proliferating Tricholemmal tumor|proliferating pilar cyst|proliferating pilar cystic tumor|proliferating Pilar tumor|Pilar tumor|proliferating trichilemmal tumor|Pilar cyst											UMLS:C2959585|SCTID:254678009|ICD10:L72.1|ICDO:8103/1|Orphanet:492|NCIT:C27125|UMLS:C0345992|ICDO:8103/0|ONCOTREE:PPCT|GARD:0004509														https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst				owl:Class
MONDO:0012086	biolink:NamedThing	autosomal dominant nonsyndromic deafness 31	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness type 31|autosomal dominant deafness 31|DFNA31|deafness, autosomal dominant 31											OMIM:608645|MESH:C563888|ICD10:H90.3|DOID:0110561|UMLS:C1837617																		owl:Class
MONDO:0007588	biolink:NamedThing	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	mondoexuq1wtf	extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly|Char-Douglas-Dungan syndrome											UMLS:C1851412|OMIM:133750|Orphanet:1964|MESH:C565032																		owl:Class
MONDO:0001782	biolink:NamedThing	mature cataract	A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.	mondoexuq1wtf	total, mature senile cataract|total or mature cataract					May be ceded to HPO. Note current classification may be incorrect						ICD9:366.17|DOID:13717|SCTID:849000|COHD:377285																		owl:Class
MONDO:0007013	biolink:NamedThing	vasculogenic impotence	Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.	mondoexuq1wtf												MESH:D018783|EFO:1001234|DOID:4762|UMLS:C0243000																		owl:Class
MONDO:0007661	biolink:NamedThing	Tourette syndrome	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.	mondoexuq1wtf	motor-verbal tic disorder|psychogenic tics|GTS|Tourette's syndrome|Guinon's disease|Tourette disorder|Gilles DE LA TOURETTE syndrome|chronic motor tics|Tourette syndrome|Gilles De 50A Tourette syndrome											EFO:0004895|OMIM:137580|ICD10:F95.2|ICD9:307.23|DOID:11119|SCTID:5158005|GARD:0007783|NCIT:C35078|MESH:D005879																		owl:Class
MONDO:0008554	biolink:NamedThing	thrombocythemia 1		mondoexuq1wtf	THCYT1|thrombocythemia type 1|thrombocytosis 1|thrombocythemia 1											UMLS:C3277671|OMIM:187950																		owl:Class
MONDO:0002249	biolink:NamedThing	thrombocytosis disease	A disease characterized by higher than normal platelet counts in the peripheral blood.	mondoexuq1wtf	elevated Platelet count|Platelet count increased|thrombocytosis|Thrombocythaemia											DOID:2228|SCTID:6631009|MESH:D013922|NCIT:C35530|ICD9:289.9|UMLS:C0836924																		owl:Class
MONDO:0016355	biolink:NamedThing	semilobar holoprosencephaly	Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	mondoexuq1wtf												ICD10:Q04.2|Orphanet:220386																		owl:Class
MONDO:0021225	biolink:NamedThing	uvea neoplasm	A neoplasm (disease) that involves the uvea.	mondoexuq1wtf	uvea tumor|uvea neoplasm (disease)|neoplasm of uvea|tumor of uvea|uveal neoplasm|uveal tumor|tumor of the uvea|neoplasm of the uvea											UMLS:C0042162|NCIT:C3436																		owl:Class
MONDO:0012383	biolink:NamedThing	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.	mondoexuq1wtf	mini-chromosome maintenance 4|natural KILLER cell and glucocorticoid deficiency with DNA repair defect|primary immunodeficiency due to MCM4 deficiency|IMD54|natural Killer cell deficiency, familial isolated|NKGCD|immunodeficiency 54											MESH:C566492|SCTID:724275005|OMIM:609981|NCIT:C123729|ICD10:D84.8|UMLS:C1864947|Orphanet:75391																		owl:Class
MONDO:0012523	biolink:NamedThing	retinitis pigmentosa 36	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.	mondoexuq1wtf	PRCD retinitis pigmentosa|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa type 36|retinitis pigmentosa 36|RP 36|RP36											OMIM:610599|GARD:0010403|ICD10:H35.5|UMLS:C1864621|MESH:C566431|DOID:0110405														https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36				owl:Class
MONDO:0022872	biolink:NamedThing	corpus callosum dysgenesis X-linked recessive		mondoexuq1wtf												GARD:0001543														https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive				owl:Class
MONDO:0004717	biolink:NamedThing	peliosis hepatis	A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.	mondoexuq1wtf	hepatic peliosis											SCTID:58008004|ICD10:K76.4|EFO:1001387|DOID:914|MESH:D010382|UMLS:C0030781																		owl:Class
MONDO:0022697	biolink:NamedThing	athetoid cerebral palsy	A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.	mondoexuq1wtf	cerebral palsy dyskinetic|athetoid cerebral palsy|dyskinetic cerebral palsy|ADCP|athetoid dyskinetic cerebral palsy											UMLS:C0270742|ICD10:G80.3|NCIT:C97169|GARD:0010449|SCTID:230780007|SCTID:75019001|DOID:0050672														https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid				owl:Class
MONDO:0006536	biolink:NamedThing	congenital generalized lipodystrophy	An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.	mondoexuq1wtf	hereditary generalized lipodystrophy|congenital generalized lipodystrophy|familial generalized lipodystrophy|congenital generalized lipodystrophy (disease)|lipodystrophy, congenital generalized		congenital generalized lipodystrophy (disease)									OMIMPS:608594|EFO:1000681|DOID:0050585|HP:0009059|SCTID:284449005																		owl:Class
MONDO:0014889	biolink:NamedThing	striatonigral degeneration, childhood-onset		mondoexuq1wtf	Lenk-Ploski syndrome|striatonigral Degeneration, childhood-onset|striatonigral degeneration, childhood-onset; SNDC|childhood-onset basal ganglia degeneration syndrome|SNDC											OMIM:617054|Orphanet:497906|UMLS:C4310743																		owl:Class
MONDO:0054669	biolink:NamedThing	pontocerebellar hypoplasia, type 11		mondoexuq1wtf	pontocerebellar hypoplasia, type 11|PCH11											OMIM:617695																		owl:Class
MONDO:0004220	biolink:NamedThing	endometrial endometrioid adenocarcinoma with spindled epithelial cells	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.	mondoexuq1wtf	endometrial endometrioid adenocarcinoma with spindled epithelial cells|sarcomatoid uterine corpus endometrioid adenocarcinoma											UMLS:C1336913|DOID:7436|NCIT:C27850																		owl:Class
MONDO:0010447	biolink:NamedThing	intellectual disability, X-linked 19	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|RPS6KA3 non-syndromic X-linked intellectual disability|MRX19|mental retardation, X-linked type 19|intellectual disability, X-linked type 19|intellectual disability, X-linked 19|mental retardation, X-linked 19											OMIM:300844|UMLS:C0796225|MESH:C563141																		owl:Class
MONDO:0032909	biolink:NamedThing	mitochondrial complex 3 deficiency, nuclear type 10		mondoexuq1wtf	MC3DN10|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10											OMIM:618775																		owl:Class
MONDO:0005291	biolink:NamedThing	brain aneurysm	A congenital or acquired aneurysm within the cranium.	mondoexuq1wtf	brain aneurysm|intracranial aneurysm											EFO:0003870|UMLS:C0007766|DOID:10941|MESH:D002532																		owl:Class
MONDO:0022782	biolink:NamedThing	cleft lower lip cleft lateral canthi chorioretinal		mondoexuq1wtf												GARD:0001386														https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal				owl:Class
MONDO:0015790	biolink:NamedThing	central diabetes insipidus	Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).	mondoexuq1wtf	CDI|diabetes insipidus neurogenic|neurogenic diabetes insipidus|diabetes insipidus neurohypophyseal|diabetes insipidus cranial type											MedDRA:10068587|GARD:0006015|Orphanet:178029|ICD10:E23.2|HP:0000863																		owl:Class
MONDO:0060510	biolink:NamedThing	Cohen-Gibson syndrome		mondoexuq1wtf	COGIS|Cohen-Gibson syndrome											UMLS:C4479654|OMIM:617561																		owl:Class
MONDO:0020571	biolink:NamedThing	relapsing epidemic typhus		mondoexuq1wtf												ICD10:A75.0|Orphanet:99991|UMLS:CN207497																		owl:Class
MONDO:0010563	biolink:NamedThing	blue cone monochromacy	Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.	mondoexuq1wtf	X-linked incomplete achromatopsia|blue cone monochromacy|X-linked achromatopsia incomplete|colorblindness, blue-Mono-cone-monochromatic type|BCM|cone dystrophy 5, X-linked|color blindness blue mono cone monochromatic type|incomplete achromatopsia X-linked|X-chromosome-linked achromatopsia|achromatopsia incomplete X-linked|atypical X-linked achromatopsia|S cone monochromatism|S cone monochromacy|color blindness, blue monocone monochromatic type|blue cone monochromatism|CBBM											MESH:C536238|SCTID:24704003|DOID:0050679|GARD:0000917|Orphanet:16|ICD10:H53.5|OMIM:303700|UMLS:CN036572														https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism				owl:Class
MONDO:0003998	biolink:NamedThing	vaginal tubular adenoma	An adenoma that arises from the vagina and is characterized by a tubular architectural pattern.	mondoexuq1wtf	vaginal tubular adenoma											NCIT:C40257|DOID:6809|UMLS:C1519932																		owl:Class
MONDO:0043103	biolink:NamedThing	hypothyroidism due to iodide transport defect	A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.	mondoexuq1wtf	hypothyroidism due to iodide transport defect|iodine transport defect|iodide transport defect|iodide transport failure|iodide Transport defect|hypothyroidism due to iodide concentration defect|iodine accumulation defect											NCIT:C121747|UMLS:C0271826|GARD:0002938|SCTID:22558005																		owl:Class
MONDO:0005134	biolink:NamedThing	experimental autoimmune encephalomyelitis	An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.	mondoexuq1wtf												MESH:D004681|EFO:0001066																		owl:Class
MONDO:0001170	biolink:NamedThing	hemiplegia	Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.	mondoexuq1wtf	infantile hemiplegia|postnatal infantile hemiplegia											ICD9:343.4|GARD:0006583|COHD:374022|MESH:D006429|DOID:10969|SCTID:1593000														https://rarediseases.info.nih.gov/diseases/6583/hemiplegia				owl:Class
MONDO:0004502	biolink:NamedThing	parapharyngeal meningioma		mondoexuq1wtf												UMLS:C1335345|NCIT:C5303|DOID:8216																		owl:Class
MONDO:0013728	biolink:NamedThing	pregnancy loss, recurrent, susceptibility to, 2	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.	mondoexuq1wtf	pregnancy loss, recurrent, susceptibility to, type 2|pregnancy loss, recurrent, susceptibility to, 2|pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|F2 pregnancy loss, recurrent, susceptibility											OMIM:614390																		owl:Class
MONDO:0018460	biolink:NamedThing	Eales disease	Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.	mondoexuq1wtf	idiopathic retinal vasculitis|idiopathic retinal perivasculitis|idiopathic obliterative vasculopathy|idiopathic recurrent vitreal hemorrhage											Orphanet:40923|UMLS:C0271073|MedDRA:10057429|MESH:C538011|SCTID:54122009|GARD:0006309|ICD10:H35.0														https://rarediseases.info.nih.gov/diseases/6309/eales-disease				owl:Class
MONDO:0009496	biolink:NamedThing	Kniest-like dysplasia with pursed lips and ectopia lentis		mondoexuq1wtf	Kniest-like dysplasia with pursed lips and ectopia lentis|burton syndrome											UMLS:C1855606|GARD:0010512|OMIM:245160																		owl:Class
MONDO:0007141	biolink:NamedThing	antiviral state repressor, regulator of		mondoexuq1wtf	AVRR|antiviral state repressor, regulator of|antiviral STATE repressor, regulator OF											OMIM:107440																		owl:Class
MONDO:0044675	biolink:NamedThing	LRP5-related primary osteoporosis		mondoexuq1wtf												Orphanet:498481																		owl:Class
MONDO:0036482	biolink:NamedThing	retinitis pigmentosa 81		mondoexuq1wtf	RP81|retinitis pigmentosa 81											OMIM:617871|UMLS:CN802781|DOID:0080292																		owl:Class
MONDO:0008181	biolink:NamedThing	palmaris longus muscle, absence of		mondoexuq1wtf	palmaris longus muscle, absence of											OMIM:167600																		owl:Class
MONDO:0018575	biolink:NamedThing	microcephalic primordial dwarfism-insulin resistance syndrome		mondoexuq1wtf												UMLS:CN237592|ICD10:Q87.1|Orphanet:436182																		owl:Class
MONDO:0015842	biolink:NamedThing	bicornuate uterus		mondoexuq1wtf												COHD:4150816|Orphanet:180134|ICD10:Q51.3|MedDRA:10004550|SCTID:31401003																		owl:Class
MONDO:0012927	biolink:NamedThing	chromosome 1q41-q42 deletion syndrome	1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	mondoexuq1wtf	1q41-q42 microdeletion syndrome|1q41-q42 deletion syndrome|Del(1)(q41q42)|monosomy 1q41-q42|monosomy 1q41q42|holoprosencephaly 10|deletion 1q41-q42|chromosome 1q41-q42 deletion syndrome|1q41q42 microdeletion syndrome											ICD10:Q93.5|UMLS:C2675857|DOID:0060412|SCTID:716515000|GARD:0003738|OMIM:612530|UMLS:C4274528|Orphanet:250999														https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome				owl:Class
MONDO:0018780	biolink:NamedThing	congenital generalized hypercontractile muscle stiffness syndrome		mondoexuq1wtf												Orphanet:476406																		owl:Class
MONDO:0018379	biolink:NamedThing	primary avascular necrosis		mondoexuq1wtf	primary AVN											ICD10:M87.8|Orphanet:399302																		owl:Class
MONDO:0007583	biolink:NamedThing	exostoses of heel		mondoexuq1wtf	exostoses of heel					Editor note: consider obsoleting						UMLS:C0877431|MESH:C563167|OMIM:133600																		owl:Class
MONDO:0019841	biolink:NamedThing	pituitary hormone defiency from vascular origin		mondoexuq1wtf												Orphanet:95611|ICD10:E23.0																		owl:Class
MONDO:0033492	biolink:NamedThing	Coffin-Siris syndrome 6		mondoexuq1wtf	COFFIN-SIRIS syndrome 6|CSS6											UMLS:CN696018|DOID:0080297|OMIM:617808																		owl:Class
MONDO:0100129	biolink:NamedThing	intracranial arachoid cyst	A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.	mondoexuq1wtf	arachnoid cysts, intracranial|intracranial arachnoid cysts							http://orcid.org/0000-0001-5208-3432				OMIM:207790																		owl:Class
MONDO:0002858	biolink:NamedThing	ovary rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.	mondoexuq1wtf	rhabdomyosarcoma of the ovary|ovarian rhabdomyosarcoma|rhabdomyosarcoma of ovary|rhabdomyosarcoma (disease) of ovary|ovary rhabdomyosarcoma (disease)											DOID:4059|NCIT:C5236|UMLS:C1335176																		owl:Class
MONDO:0007665	biolink:NamedThing	primary open angle glaucoma	A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.	mondoexuq1wtf	glaucoma, primary open angle|glaucoma 1, open angle, E|glaucoma, primary open angle, adult-onset|POAG|chronic simple glaucoma					Editor note: consider splitting OMIM entry						SCTID:77075001|ICD10:H40.1|DOID:1070|ICD10:H40.11|COHD:435262|OMIM:137760|ICD9:365.11|NCIT:C35394|MESH:C562750																		owl:Class
MONDO:0020989	biolink:NamedThing	hereditary persistence of fetal hemoglobin	The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.	mondoexuq1wtf	HPFH - Hereditary persistence of fetal hemoglobin|Hereditary persistence of fetal hemoglobin|Hemoglobin F Disease|hereditary persistence of fetal hemoglobin|Hb F disease|Hereditary Persistence of Fetal Hemoglobin|Disease, Hemoglobin F|HEMOGLOBIN F DIS|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN											ICD9:282.7|UMLS:C0019025|NCIT:C129072|SCTID:191201002																		owl:Class
MONDO:0019990	biolink:NamedThing	non-amyloid fibrillary glomerulopathy	Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.	mondoexuq1wtf	Congo red-negative amyloidosis-like glomerulopathy|non-amyloid fibrillary glomerulonephritis|fibrillary glomerulonephritis											ICD10:N03.6|SCTID:718192000|Orphanet:97566|UMLS:C4273674|GARD:0012740																		owl:Class
MONDO:0004363	biolink:NamedThing	adult spinal cord glioblastoma	A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)	mondoexuq1wtf	adult spinal cord glioblastoma multiforme|glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma											DOID:7806|NCIT:C27183|UMLS:C0559185|SCTID:276829003																		owl:Class
MONDO:0006186	biolink:NamedThing	duodenal adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the duodenum.	mondoexuq1wtf	duodenum adenocarcinoma|adenocarcinoma of duodenum|duodenal adenocarcinoma|adenocarcinoma of the duodenum											DOID:10816|NCIT:C7889|UMLS:C0278804|EFO:1000223|ONCOTREE:DA|SCTID:408644002																		owl:Class
MONDO:0011588	biolink:NamedThing	platelet-type bleeding disorder 12	An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.	mondoexuq1wtf	platelet prostaglandin-endoperoxide synthase 1 deficiency|BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet COX1 deficiency|PGHS1 deficiency|platelet cyclooxygenase 1 deficiency|bleeding disorder, platelet-type, 12											DOID:0111058|UMLS:C2751535|MESH:C567786|OMIM:605735																		owl:Class
MONDO:0033485	biolink:NamedThing	short-rib thoracic dysplasia 19 with or without polydactyly		mondoexuq1wtf	short-rib thoracic dysplasia 19 with or without polydactyly|SRTD19											OMIM:617895|DOID:0080295|UMLS:CN842245																		owl:Class
MONDO:0014312	biolink:NamedThing	auriculocondylar syndrome 3		mondoexuq1wtf	ARCND3|AURICULOCONDYLAR syndrome 3|Auriculocondylar syndrome 3|Auriculocondylar syndrome type 3											UMLS:C3810332|OMIM:615706																		owl:Class
MONDO:0010358	biolink:NamedThing	hypophosphatemic rickets, X-linked recessive	Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.	mondoexuq1wtf	X-linked hypophosphatemic rickets caused by mutation in CLCN5|hypophosphatemic rickets, X-linked recessive|CLCN5 X-linked hypophosphatemic rickets					Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations						DOID:0080353|OMIM:300554																		owl:Class
MONDO:0004408	biolink:NamedThing	schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.	mondoexuq1wtf	composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor											UMLS:C1516760|NCIT:C42059|DOID:7951																		owl:Class
MONDO:0018255	biolink:NamedThing	spondylometaphyseal dysplasia, Czarny-Ratajczak type		mondoexuq1wtf												Orphanet:370019|ICD10:Q77.8																		owl:Class
MONDO:0012766	biolink:NamedThing	hereditary spastic paraplegia 37	Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	mondoexuq1wtf	autosomal dominant spastic paraplegia 37|hereditary spastic paraplegia type 37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia type 37|SPG37											MESH:C567931|Orphanet:171612|ICD10:G11.4|OMIM:611945|UMLS:C2936880|DOID:0110788|SCTID:763369007																		owl:Class
MONDO:0020241	biolink:NamedThing	unclassified familial retinal dystrophy		mondoexuq1wtf												UMLS:CN227835|Orphanet:98662																		owl:Class
MONDO:0007824	biolink:NamedThing	incisors, lower central, absence of		mondoexuq1wtf	incisors, lower central, absence of											OMIM:147330																		owl:Class
MONDO:0022430	biolink:NamedThing	persistent fetal circulation syndrome	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.	mondoexuq1wtf	PPHN|persistent fetal circulation|persistent pulmonary hypertension of the newborn					Editor note: consider relationship to MONDO:0009934						SCTID:233815004|NCIT:C85006																		owl:Class
MONDO:0014726	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2X	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|SPG11 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2X|ARCMT2X|CMT2X|Charcot-Marie-Tooth neuropathy type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|Charcot-Marie-Tooth disease, axonal, type 2x|autosomal recessive Charcot Marie Tooth disease type 2X											UMLS:C4225253|DOID:0110176|Orphanet:466775|EFO:1001983|OMIM:616668																		owl:Class
MONDO:0003307	biolink:NamedThing	multiple mucosal neuroma		mondoexuq1wtf	multiple mucosal neuromas											UMLS:C1334828|DOID:5155|NCIT:C6559																		owl:Class
MONDO:0021309	biolink:NamedThing	malignant neoplasm of endocervix	A cancer that involves the endocervix.	mondoexuq1wtf	malignant endocervical tumor|malignant uterine endocervix neoplasm|malignant endocervical neoplasm|malignant uterine endocervix tumor|endocervix cancer|malignant endocervix neoplasm|malignant tumor of the uterine endocervix|malignant endocervix tumor|malignant neoplasm of uterine endocervix|malignant tumor of endocervix|malignant tumor of uterine endocervix|malignant tumor of the endocervix|malignant neoplasm of the uterine endocervix|malignant neoplasm of endocervix|cancer of endocervix|malignant neoplasm of the endocervix											ICD10:C53.0|ICD9:180.0|NCIT:C3553|SCTID:372097009																		owl:Class
MONDO:0018856	biolink:NamedThing	lichen amyloidosis	Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.	mondoexuq1wtf	amyloid lichen|lichen amyloidosus											ICD10:E85.4+|Orphanet:49804|ICD10:L99.0*|SCTID:718105008																		owl:Class
MONDO:0010536	biolink:NamedThing	tubulin, beta		mondoexuq1wtf	tubulin, beta											OMIM:301850																		owl:Class
MONDO:0015040	biolink:NamedThing	myelodysplastic syndrome with excess blasts-1	A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)	mondoexuq1wtf	refractory anemia with excess blasts type 1|RAEB-I|MDS-EB-1|myelodysplastic syndrome with Excess blasts-1|RAEB-1											Orphanet:100019|UMLS:C1318550|ICD10:D46.2|NCIT:C7167																		owl:Class
MONDO:0009057	biolink:NamedThing	cyanosis and hepatic disease		mondoexuq1wtf	cyanosis and hepatic disease											UMLS:C1857443|OMIM:219400|MESH:C565660																		owl:Class
MONDO:0002618	biolink:NamedThing	undifferentiated high grade pleomorphic sarcoma of bone	A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.	mondoexuq1wtf	undifferentiated high-grade pleomorphic sarcoma|undifferentiated high grade pleomorphic sarcoma of bone|malignant fibrous histiocytoma of the bone|malignant fibrous histiocytoma of bone|undifferentiated high grade pleomorphic sarcoma|malignant bone fibrous histiocytoma											NCIT:C8563|UMLS:C0740479|DOID:3352																		owl:Class
MONDO:0016051	biolink:NamedThing	cleft lip-retinopathy syndrome	Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.	mondoexuq1wtf	Ausems Wittebol-Post Hennekam syndrome|cleft lip-progressive retinopathy syndrome|cleft lip with progressive retinopathy|cleft lip-cone rod dystrophy syndrome|Ausems-Wittebol Post-Hennekam syndrome											ICD10:Q87.8|UMLS:C2931789|GARD:0000435|MESH:C538272|Orphanet:1995																		owl:Class
MONDO:0008532	biolink:NamedThing	teeth present at birth		mondoexuq1wtf	teeth present AT birth|teeth present at birth (disease)|Natal teeth|teeth present at birth		teeth present at birth (disease)									HP:0000695|OMIM:187050|SCTID:21995002																		owl:Class
MONDO:0011110	biolink:NamedThing	dyssegmental dysplasia-glaucoma syndrome	This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.	mondoexuq1wtf	dyssegmental dysplasia with glaucoma|dyssegmental dysplasia and glaucoma											OMIM:601561|MESH:C563290|Orphanet:1804|UMLS:C1832111|GARD:0002025														https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma				owl:Class
MONDO:0021373	biolink:NamedThing	neoplasm of parietal lobe	A neoplasm (disease) that involves the parietal lobe.	mondoexuq1wtf	parietal lobe tumor|neoplasm of parietal lobe|tumor of parietal lobe|parietal lobe neoplasm (disease)|neoplasm of the parietal lobe|tumor of the parietal lobe|parietal lobe neoplasm											UMLS:C1263888|SCTID:126956001|NCIT:C5573																		owl:Class
MONDO:0012795	biolink:NamedThing	hypophosphatemic rickets and hyperparathyroidism		mondoexuq1wtf	hypophosphatemic rickets and hyperparathyroidism											OMIM:612089|MESH:C567423|UMLS:C2677524																		owl:Class
MONDO:0004461	biolink:NamedThing	vaginal tubulovillous adenoma	An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.	mondoexuq1wtf	vaginal tubulovillous adenoma											UMLS:C1519933|NCIT:C40258|DOID:8104																		owl:Class
MONDO:0021478	biolink:NamedThing	benign neoplasm of nasopharynx	A benign neoplasm that involves the nasopharynx.	mondoexuq1wtf	nasopharynx benign neoplasm|benign nasopharyngeal tumor|nasopharyngeal neoplasm, benign|benign neoplasm of the nasopharynx|benign nasopharyngeal neoplasm|benign tumor of nasopharynx|benign tumor of the nasopharynx											SCTID:188800003|NCIT:C3595|ICD9:210.7|ICD10:D10.6|UMLS:C0153938																		owl:Class
MONDO:0023019	biolink:NamedThing	dwarfism bluish sclerae		mondoexuq1wtf												GARD:0001984														https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae				owl:Class
MONDO:0018869	biolink:NamedThing	cobblestone lissencephaly	Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.	mondoexuq1wtf	lissencephaly type 2											Orphanet:51577|ICD10:Q04.3|SCTID:253149002																		owl:Class
MONDO:0014830	biolink:NamedThing	platelet-type bleeding disorder 20	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.	mondoexuq1wtf	autosomal dominant thrombocytopenia with platelet secretion defect|inherited bleeding disorder, platelet-type caused by mutation in SLFN14|SLFN14 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 20|BDPLT20											Orphanet:466806|OMIM:616913|UMLS:C4310797|DOID:0111055																		owl:Class
MONDO:0010097	biolink:NamedThing	Tatsumi factor deficiency		mondoexuq1wtf	Tatsumi factor deficiency											UMLS:C1848931|OMIM:272650|MESH:C564787																		owl:Class
MONDO:0002726	biolink:NamedThing	cutaneous solitary mastocytoma	A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.	mondoexuq1wtf	skin solitary mastocytoma|solitary mastocytoma of skin|solitary mastocytoma of the skin											EFO:1001844|DOID:3666|NCIT:C7138|ICDO:9740/1|MESH:D054705																		owl:Class
MONDO:0021303	biolink:NamedThing	adenoma of small intestine	A adenoma that involves the small intestine.	mondoexuq1wtf	small intestine adenoma|adenoma of the small intestine|small bowel adenoma|adenoma of the small bowel|small intestinal adenoma|adenoma of small bowel											SCTID:399422005|UMLS:C1302392|NCIT:C5340																		owl:Class
MONDO:0006951	biolink:NamedThing	retinal vein occlusion	An occlusion of the retinal vein.	mondoexuq1wtf	occlusion, of retinal vein|retinal vein occlusion											EFO:1001157|NCIT:C34981|MedDRA:10038907|DOID:1727|MESH:D012170|UMLS:C0035328|SCTID:46085004																		owl:Class
MONDO:0000936	biolink:NamedThing	syphilitic meningitis	An infectious meningitis caused by infection with Treponema.	mondoexuq1wtf	Treponema infectious meningitis|meningitis, syphilitic|Treponema caused infectious meningitis|meningeal syphilis|syphilitic aseptic meningitis											COHD:441228|UMLS:C0153166|ICD9:094.2|SCTID:301086002|GARD:0008731|DOID:10073|MESH:C536775																		owl:Class
MONDO:0012319	biolink:NamedThing	major affective disorder 3		mondoexuq1wtf	major affective disorder 3|bipolar affective disorder, early-onset|MAJOR affective disorder 3|MAFD3											UMLS:C1864994|MESH:C566501|OMIM:609633																		owl:Class
MONDO:0022936	biolink:NamedThing	de Hauwere Leroy adriaenssens syndrome		mondoexuq1wtf	iris dysplasia, orbital hypertelorism, and psychomotor retardation											MESH:C535991|UMLS:C2931078																		owl:Class
MONDO:0019029	biolink:NamedThing	segmental odontomaxillary dysplasia	Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.	mondoexuq1wtf	SOD											Orphanet:67039|ICD10:K00.4|SCTID:699756005|ICD9:524.89																		owl:Class
MONDO:0010117	biolink:NamedThing	3M syndrome 1	Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.	mondoexuq1wtf	Yakut short stature syndrome|Le Merrer syndrome|Dolichospondylic dysplasia|3-M syndrome caused by mutation in Cul7|three M syndrome 1|Cul7 3-M syndrome|3-M syndrome caused by mutation in CUL7|gloomy face syndrome|CUL7 3-M syndrome|3M syndrome|3M1|three M syndrome type 1											OMIM:273750																		owl:Class
MONDO:0020398	biolink:NamedThing	congenital mitral stenosis	Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.	mondoexuq1wtf	hereditary mitral valve stenosis|congenital mitral stenosis|congenital mitral valve stenosis|congenital mitral stenosis (disease)		congenital mitral stenosis (disease)									SCTID:82458004|ICD10:Q23.2|Orphanet:99057|ICD9:746.5|GARD:0001496|HP:0011570																		owl:Class
MONDO:0005852	biolink:NamedThing	mitral valve stenosis	Narrowing of the left atrioventricular mitral orifice.	mondoexuq1wtf	stenosis, mitral valve|stenosis, mitral|valve stenoses, mitral|mitral stenosis|mitral valve stenoses|stenoses, mitral valve|mitral stenoses|stenoses, mitral|valve stenosis, mitral											DOID:1754|COHD:315273|MESH:D008946|UMLS:C0026269|SCTID:79619009|EFO:0007372																		owl:Class
MONDO:0011918	biolink:NamedThing	anxiety		mondoexuq1wtf	anxiety|harm avoidance											OMIM:607834																		owl:Class
MONDO:0017171	biolink:NamedThing	mucopolysaccharidosis type 6, rapidly progressing		mondoexuq1wtf	MPS6, rapidly progressing|MPSVI, rapidly progressing|arylsulfatase B deficiency, rapidly progressing|mucopolysaccharidosis type VI, rapidly progressing											UMLS:CN202600|ICD10:E76.2|Orphanet:276212																		owl:Class
MONDO:0001831	biolink:NamedThing	irregular astigmatism		mondoexuq1wtf												COHD:377558|SCTID:47099006|ICD10:H52.21|ICD9:367.22|DOID:13919|UMLS:C0152194																		owl:Class
MONDO:0001778	biolink:NamedThing	dermoid cyst of skin	A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.	mondoexuq1wtf	dermoid cyst of skin|skin dermoid|dermoid cyst of skin (finding)|cystic skin teratoma|dermoid cyst of the skin|skin dermoid cyst|zone of skin dermoid cyst|cutaneous dermoid cyst|subcutaneous dermoid cyst											DOID:13691|NCIT:C4632|SCTID:276729007|UMLS:C0349502																		owl:Class
MONDO:0015228	biolink:NamedThing	pentasomy X	Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).	mondoexuq1wtf	Pentasomy type X|49, XXXXX syndrome|penta-X syndrome|Pentasomy X syndrome|penta-X|chromosome XXXXX syndrome|XXXXX syndrome|penta X syndrome|poly-X|49,XXXXX syndrome|chromosome X pentasomy											Orphanet:11|MESH:C535319|SCTID:43248007|UMLS:C0265497|NCIT:C89802|ICD10:Q97.1|GARD:0005678																		owl:Class
MONDO:0007154	biolink:NamedThing	arteriovenous malformations of the brain	Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.	mondoexuq1wtf	arteriovenous malformations of the brain|cerebral arteriovenous malformations|intracranial AVM|cerebral arteriovenous malformation|Bavm|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|intracranial arteriovenous malformation											SCTID:234142008|ICD10:Q28.2|DOID:0060688|UMLS:C0007772|MESH:D002538|NCIT:C2936|COHD:4121803|Orphanet:46724|OMIM:108010|GARD:0003020																		owl:Class
MONDO:0007668	biolink:NamedThing	globulin anomaly involving beta (2A)-globulin		mondoexuq1wtf	globulin anomaly involving beta (2A)-globulin											UMLS:C1842009|OMIM:137900|MESH:C564229																		owl:Class
MONDO:0008388	biolink:NamedThing	ringed hair disease	Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.	mondoexuq1wtf	pili annulati|ringed hair											SCTID:21926007|ICD10:Q84.1|MESH:C537187|Orphanet:169|GARD:0004359|UMLS:C0263489|OMIM:180600																		owl:Class
MONDO:0017155	biolink:NamedThing	pulmonary arterial hypertension associated with schistosomiasis	Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis.	mondoexuq1wtf	PAH associated with schistosomiasis											EFO:0009198|Orphanet:275823|SCTID:697907008|UMLS:C3697477|ICD9:416.8|ICD10:I27.2																		owl:Class
MONDO:0032746	biolink:NamedThing	hydatidiform mole, recurrent, 3		mondoexuq1wtf	HYDM3|HYDATIDIFORM MOLE, RECURRENT, 3											OMIM:618431																		owl:Class
MONDO:0013341	biolink:NamedThing	methylmalonic acidemia due to transcobalamin receptor defect	Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.	mondoexuq1wtf	methylmalonic acidemia, Tcblr type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia, TCbIR type|CD320 methylmalonic acidemia|methylmalonic aciduria due to transcobalamin receptor defect|methylmalonic acidemia caused by mutation in CD320|methylmalonic acidemia, TCb1R type											OMIM:613646|DOID:0060741|Orphanet:280183|UMLS:C3150900|ICD10:E71.1																		owl:Class
MONDO:0004444	biolink:NamedThing	bladder tubulo-cystic clear cell adenocarcinoma	A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.	mondoexuq1wtf	bladder tubulo-cystic clear cell adenocarcinoma											NCIT:C39847|DOID:8050|UMLS:C1511203																		owl:Class
MONDO:0030602	biolink:NamedThing	Klebsiella pneumonia	An pneumonia caused by infection with Klebsiella.	mondoexuq1wtf	pneumonia due to Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder)|Klebsiella caused pneumonia|pneumonia caused by Klebsiella pneumoniae											ICD9:482.0|SCTID:64479007|DOID:13272|UMLS:C0519030|ICD10:J15.0																		owl:Class
MONDO:0100082	biolink:NamedThing	LEOPARD syndrome 1	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.	mondoexuq1wtf	LPRD1|lentiginosis, cardiomyopathic|LEOPARD syndrome type 1|multiple lentigines syndrome											OMIM:151100|DOID:0080548																		owl:Class
MONDO:0009783	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	mondoexuq1wtf	arPEO|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|PEOB1|autosomal recessive progressive external ophthalmoplegia|cerebellar ataxia infantile with progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with cerebellar ataxia infantile|POLG autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1											DOID:0111522|OMIM:258450|GARD:0001191|UMLS:C4225153														https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1				owl:Class
MONDO:0010987	biolink:NamedThing	autosomal recessive nonsyndromic deafness 8	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.	mondoexuq1wtf	childhood-onset neurosensory autosomal recessive deafness 8|autosomal recessive deafness 8|DFNB8|autosomal recessive nonsyndromic deafness type 8|deafness, autosomal recessive 8|deafness, autosomal recessive 10|neurosensory nonsyndromic recessive deafness 8|NRSD8|DFNB10|deafness, childhood-onset neurosensory, autosomal recessive 8|autosomal recessive deafness 10|deafness, autosomal recessive type 8											DOID:0110527|ICD10:H90.3|UMLS:C1832827|OMIM:601072																		owl:Class
MONDO:0006949	biolink:NamedThing	retinal drusen	Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.	mondoexuq1wtf												ICD9:362.57|DOID:2569|EFO:1001155|MESH:D015593|SCTID:247153005|UMLS:C0035312|MedDRA:10062776																		owl:Class
MONDO:0016857	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.	mondoexuq1wtf												UMLS:CN202200|ICD10:Q10.3|Orphanet:261559																		owl:Class
MONDO:0014935	biolink:NamedThing	frontometaphyseal dysplasia 2	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.	mondoexuq1wtf	Frontometaphyseal dysplasia type 2|Frontometaphyseal dysplasia 2|FMD2|frontometaphyseal dysplasia 2; FMD2|frontometaphyseal dysplasia caused by mutation in MAP3K7|MAP3K7 frontometaphyseal dysplasia											OMIM:617137|UMLS:C4310697|DOID:0111787																		owl:Class
MONDO:0100151	biolink:NamedThing	nephropathic cystinosis	An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.	mondoexuq1wtf	Abderhalden-Lignac-Kaufmann disease|Abderhalden Lignac Kaufmann disease|Abderhalden Kaufmann Lignac syndrome|cystinosis, nephropathic|Abderhalden-Kaufmann-Lignac syndrome|CTNS											OMIM:219800|NCIT:C129932|UMLS:C2930877|MESH:C535335																		owl:Class
MONDO:0015647	biolink:NamedThing	thinking seizures	Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.	mondoexuq1wtf												ICD10:G40.8|SCTID:763622006|Orphanet:166424|UMLS:CN200057																		owl:Class
MONDO:0015985	biolink:NamedThing	bone dysplasia, Azouz type	Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.	mondoexuq1wtf	bone dysplasia Azouz type											UMLS:C4303993|ICD10:Q78.4|SCTID:720566004|Orphanet:1844|GARD:0000920														https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type				owl:Class
MONDO:0013923	biolink:NamedThing	microcephaly 9, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.	mondoexuq1wtf	CEP152 autosomal recessive primary microcephaly|MCPH9|autosomal recessive primary microcephaly caused by mutation in CEP152|microcephaly 9, primary, autosomal recessive											OMIM:614852|UMLS:C3553886|DOID:0070292																		owl:Class
MONDO:0020479	biolink:NamedThing	pituitary gigantism	The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.	mondoexuq1wtf	gigantism|hypophyseal gigantism|infantile and juvenile forms of acromegaly											MESH:D005877|Orphanet:99725|NCIT:C93046|MedDRA:10018265|SCTID:86073008|ICD10:E22.0|GARD:0006506																		owl:Class
MONDO:0015079	biolink:NamedThing	multiple polyglandular tumor		mondoexuq1wtf						Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad						Orphanet:100094|UMLS:CN197373|ICD10:D44.8																		owl:Class
MONDO:0010909	biolink:NamedThing	UV-sensitive syndrome 1	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	mondoexuq1wtf	UVSS1|UV-sensitive syndrome 1|UV-sensitive syndrome type 1|UV-sensitive syndrome caused by mutation in ERCC6|ERCC6 UV-sensitive syndrome											UMLS:C3551173|OMIM:600630																		owl:Class
MONDO:0032604	biolink:NamedThing	retinitis pigmentosa 84		mondoexuq1wtf	RP84|RETINITIS PIGMENTOSA 84											OMIM:618220																		owl:Class
MONDO:0008217	biolink:NamedThing	pelvis-shoulder dysplasia	Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	mondoexuq1wtf	Kosenow syndrome|pelvis-shoulder dysplasia|Scapuloiliac dysostosis											SCTID:719298001|ICD10:Q87.5|UMLS:C1868508|MESH:C566811|OMIM:169550|Orphanet:2839																		owl:Class
MONDO:0022755	biolink:NamedThing	chromosome 18 mosaic monosomy		mondoexuq1wtf	monosomy 18 mosaicism|Mosaic monosomy 18|Mosaic monosomy chromosome 18											MESH:C536581|GARD:0003726|UMLS:CN036727																		owl:Class
MONDO:0043797	biolink:NamedThing	spinal cord injury	Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).	mondoexuq1wtf	cord injury, spinal|cord Traumas, spinal|traumatic myelopathy|spinal cord transection|Contusions, spinal cord|myelopathy, traumatic|Injuries, spinal cord|trauma, spinal cord|spinal cord injury|cord transection, spinal|traumatic Myelopathies|contusion, spinal cord|transection, spinal cord|spinal cord Traumas|post-traumatic myelopathy|cord trauma, spinal|cord Transections, spinal|cord Contusions, spinal|cord contusion, spinal|spinal cord trauma|injury, spinal cord|spinal cord Contusions|spinal cord Transections|Transections, spinal cord|injury of spinal cord|Myelopathies, traumatic|spinal cord laceration|post traumatic myelopathy|Traumas, spinal cord|spinal cord Lacerations|cord laceration, spinal|Lacerations, spinal cord|Myelopathies, post-traumatic|spinal cord contusion|post-traumatic Myelopathies|laceration, spinal cord|myelopathy, post-traumatic|cord Lacerations, spinal|cord Injuries, spinal											Orphanet:90058|SCTID:90584004|EFO:1001919|MESH:D013119																		owl:Class
MONDO:0037747	biolink:NamedThing	spinal injury	A injury that involves the vertebral column.	mondoexuq1wtf	vertebral column injury|injury of vertebral column											SCTID:262521009|MESH:D013124																		owl:Class
MONDO:0001760	biolink:NamedThing	photokeratitis	Injury to the cornea secondary to ultraviolet light.	mondoexuq1wtf	ultraviolet keratitis											SCTID:1714005|DOID:13626|ICD10:H16.13|ICD9:370.24|COHD:375258|NCIT:C118750|UMLS:C0155078																		owl:Class
MONDO:0017732	biolink:NamedThing	alpha-mannosidosis, infantile form		mondoexuq1wtf	lysosomal alpha-D-mannosidase deficiency, infantile form											Orphanet:309282|ICD10:E77.1																		owl:Class
MONDO:0017626	biolink:NamedThing	familial primary hypomagnesemia with normocalcuria	Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.	mondoexuq1wtf												ICD10:E83.4|Orphanet:306522|UMLS:CN227164																		owl:Class
MONDO:0017325	biolink:NamedThing	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	mondoexuq1wtf												Orphanet:289266|ICD10:E72.1																		owl:Class
MONDO:0019635	biolink:NamedThing	idiopathic achalasia	Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.	mondoexuq1wtf	primary achalasia|idiopathic achalasia of esophagus|achalasia cardia											MedDRA:10036669|UMLS:C1860213|GARD:0005708|UMLS:C0859976|SCTID:715192004|ICD10:K22.0|Orphanet:930																		owl:Class
MONDO:0001812	biolink:NamedThing	parasitic eyelid infestation		mondoexuq1wtf	parasitic infestation of eyelid|parasitic eyelid infestation											SCTID:193922006|UMLS:C0155183|DOID:13823|ICD9:373.6																		owl:Class
MONDO:0020947	biolink:NamedThing	parasitic eye infection	Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.	mondoexuq1wtf	Parasitic eye infection|Ocular Infection, Parasitic|Infection, Parasitic Ocular|Infection, Parasitic Eye|Eye Infection, Parasitic|PARASITIC EYE INFECT|Parasitic Ocular Infection|Infections, Parasitic Eye|parasitic eye infection|Parasitic Eye Infection|Parasitic Eye Infections|OCULAR INFECT PARASITIC|Parasitic Ocular Infections|Eye Infections, Parasitic|Infections, Parasitic Ocular|Ocular Infections, Parasitic|EYE INFECT PARASITIC											ICD9:136.9|UMLS:C0015406|SCTID:312418006|MESH:D015822																		owl:Class
MONDO:0056822	biolink:NamedThing	amyotonia congenita		mondoexuq1wtf	Oppenheim disease|amyotonia congenita											OMIM:205000																		owl:Class
MONDO:0022825	biolink:NamedThing	congenital cystic eye		mondoexuq1wtf	CCE											GARD:0010617|Orphanet:519384														https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye				owl:Class
MONDO:0018663	biolink:NamedThing	regressive spondylometaphyseal dysplasia		mondoexuq1wtf												OMIM:618019|UMLS:CN248525|ICD10:Q77.8|Orphanet:448267																		owl:Class
MONDO:0002645	biolink:NamedThing	cerebritis	Inflammation of the cerebrum.	mondoexuq1wtf	cerebral hemisphere inflammation|inflammation of cerebral hemisphere											NCIT:C27199|DOID:3431|UMLS:C0742115																		owl:Class
MONDO:0009040	biolink:NamedThing	craniosynostosis-intellectual disability syndrome of 51N and Gettig		mondoexuq1wtf	Lin-Gettig syndrome|craniosynostosis-mental retardation syndrome of Lin and Gettig|craniosynostosis-intellectual disability syndrome of Lin and Gettig											MESH:C565664|UMLS:C1857473|GARD:0010282|OMIM:218649																		owl:Class
MONDO:0020684	biolink:NamedThing	Ehlers-Danlos syndrome, periodontal type 1		mondoexuq1wtf	EDS 8|EDSPD1|Ehlers-Danlos syndrome, periodontal type, 1|Ehlers-Danlos syndrome, periodontosis type|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome, periodontitis type											OMIM:130080																		owl:Class
MONDO:0015300	biolink:NamedThing	cataract - microcornea syndrome	Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.	mondoexuq1wtf	microcornea cataract syndrome|cataract microcornea syndrome											MESH:C538287|ICD10:Q13.8|GARD:0001155|Orphanet:1377														https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome				owl:Class
MONDO:0006313	biolink:NamedThing	nabothian cyst	A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.	mondoexuq1wtf						Editor note: check this						NCIT:C34835|Wikipedia:Nabothian_cyst|EFO:1000390|UMLS:C0027269|SCTID:24565001																		owl:Class
MONDO:0011891	biolink:NamedThing	febrile seizures, familial, 8	A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.	mondoexuq1wtf	susceptibility to childhood absence epilepsy 2|generalized epilepsy with febrile seizures plus, type 3|epilepsy, childhood absence, susceptibility to, type 2|ECA2|GABRG2 childhood absence epilepsy|childhood absence epilepsy caused by mutation in GABRG2|GABRG2 generalized epilepsy with febrile seizures plus|epilepsy, childhood absence, susceptibility to, 2|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|GEFSP3|Gefs+, type 3											UMLS:C1843244|DOID:0111298|OMIM:607681|OMIM:611277|UMLS:C1858674|MESH:C565811																		owl:Class
MONDO:0011966	biolink:NamedThing	periventricular heterotopia with microcephaly, autosomal recessive		mondoexuq1wtf	periventricular heterotopia with microcephaly, autosomal recessive|ARPHM|heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2											OMIM:608097|MESH:C564292|UMLS:C1842563																		owl:Class
MONDO:0013898	biolink:NamedThing	karyomegalic interstitial nephritis	Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.	mondoexuq1wtf	KMIN|interstitial nephritis, karyomegalic|systemic karyomegaly|kin|interstitial nephritis caused by mutation in FAN1|FAN1 interstitial nephritis											UMLS:C3553774|GARD:0011003|ICD10:N11.8|Orphanet:401996|DOID:0060911|OMIM:614817														https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis				owl:Class
MONDO:0013630	biolink:NamedThing	Meckel syndrome, type 9	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.	mondoexuq1wtf	B9D1 Meckel syndrome|Meckel syndrome caused by mutation in B9D1|Meckel syndrome, type 9|MKS9											UMLS:C3280155|OMIM:614209																		owl:Class
MONDO:0019508	biolink:NamedThing	van der Woude syndrome	Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.	mondoexuq1wtf	cleft lip/palate with mucous cysts of lower lip|lip-pit syndrome|LPS|cleft lip and/or palate with mucous cysts of lower lip|VWS|lip pit syndrome											DOID:0060239|ICD10:Q38.0|MESH:C536528|Orphanet:888|GARD:0008414|ICD9:744.89|SCTID:79261008|UMLS:C0175697|NCIT:C74986																		owl:Class
MONDO:0021001	biolink:NamedThing	hemochromatosis type 1	Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease	mondoexuq1wtf	symptomatic form of hemochromatosis type 1|HFE-related hemochromatosis|symptomatic form of classic hemochromatosis|symptomatic form of HFE-related hereditary hemochromatosis|classic hemochromatosis|C282Y/C282Y hemochromatosis|hemochromatosis, type 1|HFE1|HFE-associated hereditary hemochromatosis					Editor note: check ORDO entry						DOID:0111029|ICD10:E83.1|UMLS:CN242134|GARD:0010417|EFO:0006513|Orphanet:465508|NCIT:C84764|ICD9:275.01|OMIM:235200																		owl:Class
MONDO:0007379	biolink:NamedThing	Meesmann corneal dystrophy	Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.	mondoexuq1wtf	corneal dystrophy, juvenile epithelial, of Meesmann|corneal dystrophy, Meesmann|corneal dystrophy, juvenile epithelial of Meesmann|Meesmann corneal dystrophy|juvenile epithelial of Meesmann corneal dystrophy|MECD|corneal dystrophy, Meesmann epithelial|Meesmann corneal epithelial dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|juvenile hereditary epithelial dystrophy|stocker-Holt dystrophy|Meesman dystrophy											OMIMPS:122100|NCIT:C84795|MESH:D053559|GARD:0009688|ICD10:H18.52|ICD10:H18.5|ICD9:371.51|DOID:0060451|SCTID:1674008|UMLS:C0339277|Orphanet:98954														https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy				owl:Class
MONDO:0020759	biolink:NamedThing	epilepsy, childhood absence, susceptibility to, 1		mondoexuq1wtf	epilepsy, childhood absence, susceptibility to, 1|ECA1											OMIM:600131																		owl:Class
MONDO:0012044	biolink:NamedThing	corneal dystrophy, lattice type 3A	Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.	mondoexuq1wtf	lattice corneal dystrophy type III A|corneal dystrophy, lattice type IIIA|CDL3A|lattice corneal dystrophy type 3A|lattice corneal dystrophy, type 3A											MESH:C563923|OMIM:608471|GARD:0010320|UMLS:C1837974														https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a				owl:Class
MONDO:0010115	biolink:NamedThing	thoracic dysplasia-hydrocephalus syndrome		mondoexuq1wtf	thoracic dysplasia hydrocephalus syndrome|thoracic dysplasia-hydrocephalus syndrome											OMIM:273730|UMLS:C1848864|MESH:C564774|ICD10:Q87.8|GARD:0005180|Orphanet:1861														https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome				owl:Class
MONDO:0017948	biolink:NamedThing	ABetaA21G amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.	mondoexuq1wtf	ABeta amyloidosis, Flemish type|HCHWA, Flemish type|cerebral amyloid angiopathy, APP-related, Flemish variant|hereditary cerebral hemorrhage with amyloidosis, Flemish type|ABetaA21G-related amyloidosis											ICD10:I68.0*|ICD10:E85.4+|Orphanet:324718																		owl:Class
MONDO:0009305	biolink:NamedThing	granulocytopenia with immunoglobulin abnormality		mondoexuq1wtf	granulocytopenia with immunoglobulin abnormality											UMLS:C1856263|OMIM:233600|MESH:C565535																		owl:Class
MONDO:0006340	biolink:NamedThing	ovarian serous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.	mondoexuq1wtf	ovary serous adenofibroma|serous adenofibroma of ovary|ovarian serous adenofibroma											EFO:1000428|DOID:5474|NCIT:C40031|UMLS:C1518729																		owl:Class
MONDO:0024886	biolink:NamedThing	serous adenofibroma	A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.	mondoexuq1wtf	serous adenofibroma											UMLS:C0334498|ICDO:9014/0|NCIT:C67090																		owl:Class
MONDO:0021046	biolink:NamedThing	breast fibroepithelial neoplasm	A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.	mondoexuq1wtf	breast fibroepithelial tumor|breast fibroepithelial neoplasms|breast fibroepithelial neoplasm|BFN											NCIT:C40405|ONCOTREE:BFN|UMLS:C1511309																		owl:Class
MONDO:0000758	biolink:NamedThing	bacillary angiomatosis	A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.	mondoexuq1wtf	angiomatoses, bacillary|bacillary angiomatosis|angiomatosis, epithelioid|epithelioid angiomatosis|epithelioid Angiomatoses|angiomatoses, bacillary epithelioid|epithelioid Angiomatoses, bacillary|epithelioid angiomatosis, bacillary|Bartonella caused angiomatosis|bacillary epithelioid angiomatosis|bacillary Angiomatoses|angiomatoses, epithelioid|angiomatosis, bacillary epithelioid|Bartonella angiomatosis|bacillary epithelioid Angiomatoses											NCIT:C3477|ICD9:083.8|MESH:D016917|SCTID:58213005|DOID:0060345|UMLS:C0085434																		owl:Class
MONDO:0009474	biolink:NamedThing	isovaleric acid, inability to smell		mondoexuq1wtf	isovaleric acid, inability to smell											OMIM:243450																		owl:Class
MONDO:0006553	biolink:NamedThing	Fox-Fordyce disease	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	mondoexuq1wtf	apocrine miliaria|Fox Fordyce disease|Fox-Fordyce disease|miliaria, apocrine|Fox-Fordyce syndrome											ICD9:705.82|Wikipedia:Fox-Fordyce_disease|DOID:1381|SCTID:65038009|ICD10:L75.2|UMLS:C0016632|MESH:D005588|EFO:1000703|GARD:0006462|NCIT:C84716														https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease				owl:Class
MONDO:0010913	biolink:NamedThing	Caroli disease	Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.	mondoexuq1wtf	cystic dilatation of the intrahepatic biliary tree|Caroli disease isolated|CAROLI disease, isolated|congenital polycystic dilatation of intrahepatic bile ducts											MedDRA:10013003|UMLS:C1833541|MESH:D016767|OMIM:600643|SCTID:717232005|ICD10:Q44.6|EFO:1001286|GARD:0006002|Orphanet:53035|DOID:0050876|NCIT:C84619|UMLS:C0162510														https://rarediseases.info.nih.gov/diseases/6002/caroli-disease				owl:Class
MONDO:0003856	biolink:NamedThing	adult malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in the adult population.	mondoexuq1wtf	hemangiopericytoma, malignant of adults|malignant adult hemangiopericytoma|adult hemangiopericytoma, malignant					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						NCIT:C7946|DOID:6332|UMLS:C0279547																		owl:Class
MONDO:0012818	biolink:NamedThing	maturity-onset diabetes of the young type 9	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.	mondoexuq1wtf	MODY9|type 9 maturity-onset diabetes of the young|maturity-onset diabetes of the young (disease) caused by mutation in PAX4|PAX4 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 9|MODY PAX4 related|MODY type 9|diabetes mellitus MODY type 9											DOID:0111107|MESH:C567393|OMIM:612225|SCTID:609576002|GARD:0010663|UMLS:C2677132														https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9				owl:Class
MONDO:0018380	biolink:NamedThing	idiopathic avascular necrosis		mondoexuq1wtf	idiopathic AVN											Orphanet:399307|ICD10:M87.0																		owl:Class
MONDO:0012327	biolink:NamedThing	autosomal recessive nonsyndromic deafness 46	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.	mondoexuq1wtf	DFNB46|autosomal recessive nonsyndromic deafness type 46|deafness, autosomal recessive 46|autosomal recessive deafness 46											OMIM:609647|DOID:0110503|ICD10:H90.3|MESH:C566459|UMLS:C1864815																		owl:Class
MONDO:0003870	biolink:NamedThing	childhood brainstem astrocytoma	An astrocytoma that arises from the brain stem and occurs during childhood.	mondoexuq1wtf	childhood brain stem astrocytoma|pediatric brain stem astrocytic neoplasm|childhood brainstem astrocytoma|childhood brain stem astrocytic neoplasm|brain stem astrocytic neoplasm of childhood											NCIT:C6216|UMLS:C1332950|DOID:6386																		owl:Class
MONDO:0010338	biolink:NamedThing	X-linked distal spinal muscular atrophy type 3	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	mondoexuq1wtf	Dsmax|X-linked distal hereditary motor neuropathy type 3|X-linked dHMN3|spinal muscular atrophy, distal, X-linked recessive|spinal muscular atrophy, distal, X-linked 3|ATP7A-related distal motor neuropathy|spinal muscular atrophy caused by mutation in ATP7A|spinal muscular atrophy, distal, X-linked type 3|X-linked dHMN type 3|SMAX3|X-linked dSMA3|ATP7A spinal muscular atrophy|DSMAX|X-linked dSMA type 3											UMLS:C1845359|MESH:C564506|ICD10:G12.2|SCTID:766764008|OMIM:300489|DOID:0111196|Orphanet:139557																		owl:Class
MONDO:0002353	biolink:NamedThing	glottis neoplasm	A benign or malignant neoplasm that affects the glottic area of the larynx.	mondoexuq1wtf	tumor of glottis|neoplasm of the glottis|neoplasm of glottis|glottis tumor|glottis neoplasm (disease)|tumor of the glottis|glottis neoplasm											UMLS:C0345713|NCIT:C4425|SCTID:126693009|DOID:2597																		owl:Class
MONDO:0100395	biolink:NamedThing	acute myeloid leukemia, t(5;11)(q35;p15)	Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)	mondoexuq1wtf	AML, t(5;11)(q35;p15)											NCIT:C131502																		owl:Class
MONDO:0015029	biolink:NamedThing	reticular perineurioma		mondoexuq1wtf												UMLS:CN197319|Orphanet:100000																		owl:Class
MONDO:0015031	biolink:NamedThing	extraneural perineurioma	Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.	mondoexuq1wtf	soft tissue perineurioma											SCTID:768926005|UMLS:CN197321|Orphanet:100002																		owl:Class
MONDO:0005614	biolink:NamedThing	pancreatic adenosquamous carcinoma	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.	mondoexuq1wtf	pancreatic adenoacanthoma|adenosquamous pancreas carcinoma|pancreatic mixed squamous and adenocarcinoma|adenosquamous carcinoma of pancreas|pancreatic adenosquamous cancer|pancreatic adenosquamous carcinoma|PAASC|pancreatic mucoepidermoid carcinoma|pancreas adenosquamous carcinoma|adenosquamous carcinoma of the pancreas											DOID:5637|ONCOTREE:PAASC|NCIT:C5721|UMLS:C1335299|EFO:0006732																		owl:Class
MONDO:0018521	biolink:NamedThing	squamous cell carcinoma of pancreas	A squamous cell carcinoma that involves the pancreas.	mondoexuq1wtf	squamous cell carcinoma of the pancreas|pancreas squamous cell carcinoma|pancreatic squamous cell carcinoma											DOID:0080323|ICD10:C25.1|ICD10:C25.8|ICD10:C25.0|ICD10:C25.2|Orphanet:424039|UMLS:CN237524|UMLS:C2675993|ICD10:C25.7																		owl:Class
MONDO:0004794	biolink:NamedThing	exposure keratitis		mondoexuq1wtf	exposure keratoconjunctivitis|lagophthalmic keratitis											DOID:9461|UMLS:C0339295|SCTID:14366000|COHD:379812|ICD9:370.34|ICD10:H16.21																		owl:Class
MONDO:0100128	biolink:NamedThing	coinfection	The simultaneous infection of a host by multiple pathogen species.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				UMLS:C0275524																		owl:Class
MONDO:0044656	biolink:NamedThing	epidermolytic nevus		mondoexuq1wtf	epidermolytic verrucous epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis|epidermolytic epidermal nevus											UMLS:C1302848|Orphanet:497737|SCTID:400142003																		owl:Class
MONDO:0007125	biolink:NamedThing	ankyloglossia	A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.	mondoexuq1wtf	ankyloglossia|FUSED to floor of mouth|tongue-tie|'tongue-Tie'											NCIT:C124538|MESH:C562396|ICD9:750.0|DOID:0060604|SCTID:67787004|OMIM:106280|ICD10:Q38.1																		owl:Class
MONDO:0018495	biolink:NamedThing	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	mondoexuq1wtf												ICD10:E79.8|Orphanet:423479|UMLS:CN237501																		owl:Class
MONDO:0011663	biolink:NamedThing	juvenile primary lateral sclerosis	Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	mondoexuq1wtf	Pls, juvenile|primary lateral sclerosis, juvenile|PLSJ|JPLS|juvenile PLS|PLS juvenile											ICD10:G12.2|OMIM:606353|MESH:C536416|Orphanet:247604|UMLS:C1853396|SCTID:717964007|GARD:0004485														https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis				owl:Class
MONDO:0008252	biolink:NamedThing	platelet adenylate cyclase activity		mondoexuq1wtf	platelet adenylate cyclase activity											OMIM:173395																		owl:Class
MONDO:0000553	biolink:NamedThing	uterine corpus endometrial carcinoma	A endometrial carcinoma (disease) that involves the body of uterus.	mondoexuq1wtf	body of uterus endometrial carcinoma (disease)|endometrial carcinoma (disease) of body of uterus											DOID:0050939																		owl:Class
MONDO:0001813	biolink:NamedThing	squamous blepharitis		mondoexuq1wtf												COHD:438430|UMLS:C0155174|SCTID:58912008|ICD10:H01.021-H01.029|ICD10:H01.02|MEDGEN:509829|ICD9:373.02|DOID:13825																		owl:Class
MONDO:0004099	biolink:NamedThing	adult cystic teratoma	A cystic teratoma that occurs in an adult.	mondoexuq1wtf	cystic teratoma of adults|adult cystic teratoma											NCIT:C9012|DOID:7079|UMLS:C1368888																		owl:Class
MONDO:0012358	biolink:NamedThing	leprosy, susceptibility to, 1		mondoexuq1wtf	leprosy, Paucibacillary type, susceptibility to, 1|LPRS1|leprosy, susceptibility to, 1											OMIM:609888																		owl:Class
MONDO:0021280	biolink:NamedThing	mucoepidermoid carcinoma of parotid gland	A mucoepidermoid carcinoma that involves the parotid gland.	mondoexuq1wtf	parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid gland|mucoepidermoid carcinoma of parotid|parotid mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid											NCIT:C5938|SCTID:423793008|UMLS:C1335363																		owl:Class
MONDO:0018067	biolink:NamedThing	triploidy	Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	triploidy syndrome|chromosome triploidy syndrome|triploid syndrome											Orphanet:3376|ICD10:Q92.7|MESH:D057885|SCTID:66651005|NCIT:C85204|UMLS:C0333693|ICD9:758.89|GARD:0005295														https://rarediseases.info.nih.gov/diseases/5295/triploidy				owl:Class
MONDO:0016806	biolink:NamedThing	maternally-inherited mitochondrial dystonia	Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	mondoexuq1wtf												UMLS:C4274074|Orphanet:254851|ICD10:G24.8|SCTID:717054001																		owl:Class
MONDO:0010492	biolink:NamedThing	pituitary adenoma, growth hormone-secreting, 2	Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.	mondoexuq1wtf	pituitary adenoma 2, growth hormone-secreting|pituitary adenoma, growth hormone-secreting, 2|PITA2|acromegaly, X-linked|acromegaly due to pituitary adenoma 2|pituitary adenoma 2, Growth hormone-secreting|pituitary gland adenoma caused by mutation in GPR101|PAGH2|pituitary adenoma, Growth hormone-secreting, type 2|GPR101 pituitary gland adenoma											OMIM:300943|UMLS:C4012409																		owl:Class
MONDO:0006642	biolink:NamedThing	alcohol withdrawal delirium	An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)	mondoexuq1wtf	alcohol withdrawal associated autonomic hyperactivity|delirium Tremens, alcohol withdrawal induced|delirium Tremens|alcohol withdrawal hallucinosis|delirium, alcohol withdrawal|hallucinosis, alcohol withdrawal|alcohol withdrawal induced delirium Tremens|alcohol withdrawal-induced delirium Tremens|autonomic hyperactivity, alcohol withdrawal associated											COHD:377830|ICD9:291.0|MedDRA:10001610|MESH:D000430|SCTID:8635005|EFO:1000800																		owl:Class
MONDO:0007079	biolink:NamedThing	alcohol dependence	Physical and psychological dependence on alcohol.	mondoexuq1wtf	alcohol dependence|alcohol dependence, protection against|alcoholism|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against											ICD9:303.90|ICD9:305.0|COHD:435243|DOID:0050741|NCIT:C93040|OMIM:103780|SCTID:66590003|EFO:0003829|KEGG:05034																		owl:Class
MONDO:0016481	biolink:NamedThing	silver-Russell syndrome due to 11p15 microduplication		mondoexuq1wtf												UMLS:CN201476|ICD10:Q87.1|Orphanet:231144																		owl:Class
MONDO:0017973	biolink:NamedThing	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency		mondoexuq1wtf												ICD10:E25.0|Orphanet:325529																		owl:Class
MONDO:0020703	biolink:NamedThing	erythroid neoplasm		mondoexuq1wtf	erythroid tumor|erythroid neoplasm											NCIT:C7064																		owl:Class
MONDO:0013570	biolink:NamedThing	combined oxidative phosphorylation defect type 8	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	mondoexuq1wtf	combined oxidative phosphorylation deficiency 8|combined oxidative phosphorylation deficiency type 8|AARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in AARS2|cardiomyopathy, hypertrophic mitochondrial, fatal infantile|COXPD8											OMIM:614096|UMLS:C3279793|UMLS:C4518839|DOID:0111479|ICD10:I42.2|Orphanet:319504|SCTID:733600007																		owl:Class
MONDO:0003897	biolink:NamedThing	breast epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.	mondoexuq1wtf	histiocytoid hemangioma of the breast|histiocytoid breast hemangioma|epithelioid hemangioma of the breast|epithelioid hemangioma of breast|breast histiocytoid hemangioma|epithelioid breast hemangioma|breast epithelioid hemangioma|histiocytoid hemangioma of breast											NCIT:C5211|UMLS:C1332627|DOID:6492																		owl:Class
MONDO:0014672	biolink:NamedThing	osteogenesis imperfecta type 17	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.	mondoexuq1wtf	osteogenesis imperfecta type XVII|osteogenesis imperfecta, type 17|osteogenesis imperfecta caused by mutation in SPARC|SPARC osteogenesis imperfecta|OI17|osteogenesis imperfecta, type XVII											ICD10:Q78.0|UMLS:C4225301|OMIM:616507|DOID:0110338																		owl:Class
MONDO:0016776	biolink:NamedThing	frontal fibrosing alopecia	Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.	mondoexuq1wtf	FFA											Orphanet:254492|UMLS:C4255374|ICD10:L66.1|SCTID:717055000|GARD:0010886														https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia				owl:Class
MONDO:0043280	biolink:NamedThing	Wallerian degeneration	A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.	mondoexuq1wtf	Degeneration, Wallerian|Wallerian Degeneration|Wallerian degeneration of the pyramidal tract											GARD:0007875|MESH:D014855|NCIT:C85223														https://github.com/monarch-initiative/mondo/issues/2312				owl:Class
MONDO:0006609	biolink:NamedThing	seborrheic infantile dermatitis	Excessive shedding of dry scaly material from the scalp in humans.	mondoexuq1wtf	infantile seborrheic dermatitis|Seborrhoeic eczema of scalp|scalp seborrheic dermatitis (disease)|seborrhea sicca|Seborrhoea capitis|Pityriasis capitis|infantile seborrhoeic dermatitis|cradle cap|Seborrhoeic dermatitis of scalp|generalized seborrheic dermatitis of infants|seborrheic dermatitis (disease) of scalp|seborrhea capitis|complement 5 dysfunction											ICD9:690.11|EFO:1000765|COHD:141654|ICD10:L21.0|UMLS:C0221244|DOID:8941																		owl:Class
MONDO:0054727	biolink:NamedThing	spermatogenic failure 23		mondoexuq1wtf	SPGF23|spermatogenic failure 23											DOID:0070181|OMIM:617707|UMLS:C4540185																		owl:Class
MONDO:0001211	biolink:NamedThing	total internal ophthalmoplegia		mondoexuq1wtf												DOID:11177|ICD9:367.52|SCTID:86266009|UMLS:C0152197																		owl:Class
MONDO:0030855	biolink:NamedThing	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		mondoexuq1wtf	OIEDS Syndrome 2|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2|OIEDS2											OMIM:619120																		owl:Class
MONDO:0017050	biolink:NamedThing	intraocular medulloepithelioma	Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.	mondoexuq1wtf	intraocular medulloepithelioma|orbital medulloepithelioma											NCIT:C66806|UMLS:CN202409|UMLS:C1883694|Orphanet:268139																		owl:Class
MONDO:0021510	biolink:NamedThing	benign neoplasm of prostate	A benign neoplasm that involves the prostate gland.	mondoexuq1wtf	benign tumor of prostate|prostate gland benign neoplasm|benign prostate tumor|benign neoplasm of the prostate|benign tumor of the prostate|benign prostatic neoplasm|benign prostate neoplasm											UMLS:C0154009|NCIT:C3613|ICD9:222.2|ICD10:D29.1|SCTID:92308005																		owl:Class
MONDO:0003317	biolink:NamedThing	metachronous kidney Wilms' tumor	Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.	mondoexuq1wtf	metachronous Wilms tumor|metachronous Wilms' tumor|metachronous Wilms tumor of the kidney											DOID:5178|NCIT:C38158|UMLS:C1334705																		owl:Class
MONDO:0019339	biolink:NamedThing	47,XYY syndrome	47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	mondoexuq1wtf	YY syndrome|47, XYY syndrome|47,XYY syndrome|XYY syndrome|47,XYY|Double Y|disomy Y|Y disomy|Double Y syndrome|XYY karyotype											MESH:C535317|NCIT:C85237|MedDRA:10056894|ICD10:Q98.5|Orphanet:8|GARD:0005674|SCTID:50749006														https://github.com/monarch-initiative/mondo/issues/3155				owl:Class
MONDO:0005879	biolink:NamedThing	ocular toxoplasmosis	Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.	mondoexuq1wtf												UMLS:C0040561|EFO:0007399|ICD9:130.7|SCTID:416481006|MESH:D014126|GARD:0007238														https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis				owl:Class
MONDO:0009966	biolink:NamedThing	NPHP3-related Meckel-like syndrome		mondoexuq1wtf	Meckel syndrome, type 7|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|Meckel-Gruber syndrome, type 7|Meckel syndrome 7|Meckel syndrome type 7|MKS7|Goldston syndrome|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Meckel-like syndrome type 1|NPHP3-related Meckel-like syndrome|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome											GARD:0004665|Orphanet:3032|ICD10:Q61.9|OMIM:267010|UMLS:C2673885|PMID:18371931|MESH:C537756|DOID:0070121														https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia				owl:Class
MONDO:0012335	biolink:NamedThing	obesity due to pro-opiomelanocortin deficiency	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.	mondoexuq1wtf	OBAIRH|PROOPIOMELANOCORTIN deficiency|obesity, early-onset, with adrenal insufficiency and Red hair|POMC deficiency|obesity, early-onset, with adrenal insufficiency and RED hair|obesity, early-onset, adrenal insufficiency, and Red hair											OMIM:609734|Orphanet:71526|ICD10:E66.8|ICD9:255.5|GARD:0010823|SCTID:702949005|UMLS:C1857854|MESH:C565726																		owl:Class
MONDO:0044334	biolink:NamedThing	connective and soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.	mondoexuq1wtf	tumor of skeletal and soft tissue|soft tissue and bone tumor|neoplasm of soft tissue and skeleton|neoplasm of skeletal and soft tissue|soft tissue and bone neoplasm|musculoskeletal and soft tissue neoplasm|connective and soft tissue tumor|musculoskeletal and soft tissue tumor|tumor of soft tissue and bone|skeletal and soft tissue tumor|neoplasm of soft tissue and bone|tumor of soft tissue and skeleton|connective and soft tissue neoplasm|skeletal and soft tissue neoplasm					Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone						NCIT:C3810																		owl:Class
MONDO:0017407	biolink:NamedThing	deficiency in anterior pituitary function - variable immunodeficiency syndrome		mondoexuq1wtf	David syndrome											Orphanet:293978																		owl:Class
MONDO:0014260	biolink:NamedThing	immunodeficiency, common variable, 10	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.	mondoexuq1wtf	NFKB2 common variable immunodeficiency|common variable immunodeficiency caused by mutation in NFKB2|immunodeficiency, common variable, 10|Deficit in anterior pituitary function and variable immunodeficiency|CVID10|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, type 10											UMLS:C3809991|OMIM:615577																		owl:Class
MONDO:0006596	biolink:NamedThing	photoallergic dermatitis	A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.	mondoexuq1wtf	photoallergic contact dermatitis|photoallergic eczema											DOID:3818|EFO:1000751|Wikipedia:Photodermatitis|SCTID:111209006|UMLS:C0162824|ICD9:692.72|MESH:D017454																		owl:Class
MONDO:0016237	biolink:NamedThing	diffuse neonatal hemangiomatosis	Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.	mondoexuq1wtf												ICD10:Q82.8|GARD:0001861|Orphanet:2123|UMLS:C0474965|SCTID:254782003														https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis				owl:Class
MONDO:0018597	biolink:NamedThing	plastic bronchitis	A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.	mondoexuq1wtf	pseudo-membranous bronchitis|fibrinous bronchitis|croupous bronchitis											SCTID:53926002|Orphanet:439881|UMLS:C0264342																		owl:Class
MONDO:0017681	biolink:NamedThing	erythrokeratoderma variabilis progressiva	Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.	mondoexuq1wtf												Orphanet:308166|ICD10:Q82.8																		owl:Class
MONDO:0022609	biolink:NamedThing	bronchial adenomas/carcinoids childhood		mondoexuq1wtf	bronchial carcinoids											GARD:0009313|UMLS:C4013426														https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood				owl:Class
MONDO:0021663	biolink:NamedThing	sarcomatoid squamous cell carcinoma	A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.	mondoexuq1wtf	squamous cell carcinoma, sarcomatoid|sarcomatoid squamous cell carcinoma|squamous cell carcinoma, spindle cell|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell spindle cell carcinoma|epidermoid spindle cell carcinoma											NCIT:C27084|ICDO:8074/3|ICD9:199.1|SCTID:403900000																		owl:Class
MONDO:0007229	biolink:NamedThing	Brachymetatarsus 4		mondoexuq1wtf	metatarsus IV, short|BRACHYMETATARSUS IV|toe, fourth, short|Brachymetatarsus type 4											OMIM:113475																		owl:Class
MONDO:0011539	biolink:NamedThing	nemaline myopathy 5	Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.	mondoexuq1wtf	nemaline myopathy caused by mutation in TNNT1|NEM5|nemaline myopathy, Amish type|TNNT1 nemaline myopathy|nemaline myopathy 5|nemaline myopathy type 5|ANM|nemaline myopathy 5, Amish type|Amish nemaline myopathy|nemaline myopathy, caused by mutation in the troponin t1 gene											OMIM:605355|DOID:0110936|GARD:0008334|UMLS:C1854380|ICD10:G71.2|Orphanet:98902|MESH:C538397																		owl:Class
MONDO:0017302	biolink:NamedThing	qualitative or quantitative defects of troponin		mondoexuq1wtf												Orphanet:284786																		owl:Class
MONDO:0002563	biolink:NamedThing	jejunal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.	mondoexuq1wtf	Delta cell tumor of the jejunum|jejunal somatostatin-producing NET|Somatosatinoma of the jejunum|jejunal somatostatin-producing neuroendocrine tumor|Delta cell tumor of jejunum|jejunal delta cell somatostatin producing tumor|jejunal somatostatin producing tumor|Somatosatinoma of jejunum											UMLS:C1334297|DOID:3216|NCIT:C5787																		owl:Class
MONDO:0006357	biolink:NamedThing	parotid gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	mondoexuq1wtf	carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of parotid|carcinoma ex pleomorphic adenoma of the parotid gland|parotid gland carcinoma ex pleomorphic adenoma|parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid											NCIT:C5974|EFO:1000461|SCTID:425127006|UMLS:C1335356																		owl:Class
MONDO:0002375	biolink:NamedThing	sebaceous adenoma	A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.	mondoexuq1wtf	skin appendage sebaceous adenoma|adenoma, sebaceous, benign|sebaceous adenoma (morphologic abnormality)|adenoma of the sebaceous gland|adenoma of sebaceous gland|sebaceous gland adenoma											NCIT:C4174|UMLS:C1368816|DOID:2648|ICDO:8410/0																		owl:Class
MONDO:0006963	biolink:NamedThing	sebaceous gland neoplasm	A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.	mondoexuq1wtf	neoplasm of sebaceous gland|sebaceous tumor|sebaceous gland neoplasm|tumor of sebaceous gland|sebaceous neoplasm|sebaceous gland neoplasm (disease)|sebaceous gland tumor											UMLS:C3805742|NCIT:C3363|SCTID:126491004|ICD9:239.2|EFO:1001172|DOID:5759|UMLS:C0036503|MESH:D012626																		owl:Class
MONDO:0002549	biolink:NamedThing	schwannoma of twelfth cranial nerve	A schwannoma that involves the hypoglossal nerve.	mondoexuq1wtf	hypoglossal nerve neurilemmoma|twelfth cranial nerve schwannoma|twelfth cranial nerve neurilemmoma|schwannoma of the hypoglossal nerve|neurilemmoma of hypoglossal nerve|schwannoma of twelfth cranial nerve|neurilemmoma of the hypoglossal nerve|hypoglossal schwannoma|neurilemmoma of twelfth cranial nerve|hypoglossal nerve schwannoma|schwannoma of the twelfth cranial nerve|schwannoma of hypoglossal nerve|hypoglossal neurilemmoma|neurilemmoma of the twelfth cranial nerve											NCIT:C5434|UMLS:C1335928|DOID:3197																		owl:Class
MONDO:0032874	biolink:NamedThing	ciliary dyskinesia, primary, 43		mondoexuq1wtf	CILIARY DYSKINESIA, PRIMARY, 43|CILD43|Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus											OMIM:618699																		owl:Class
MONDO:0035122	biolink:NamedThing	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder		mondoexuq1wtf												Orphanet:589547																		owl:Class
MONDO:0006161	biolink:NamedThing	colorectal juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	mondoexuq1wtf	juvenile polyp of the large bowel|large intestinal juvenile polyp|large bowel juvenile polyp|colorectal retention polyp|juvenile polyp of large bowel											NCIT:C5681|EFO:1000194																		owl:Class
MONDO:0010371	biolink:NamedThing	Aland island eye disease	Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	mondoexuq1wtf	Aland island eye disease|Forsius Eriksson type ocular albinism|FORSIUS-Eriksson type ocular albinism|AIED|Forsius-Eriksson type ocular albinism|Forsius-Eriksson syndrome|ALAND ISLAND eye disease|Åland Islands eye disease											ICD10:H35.5|DOID:0050630|SCTID:266455006|UMLS:C0268505|OMIM:300600|GARD:0010574|MESH:C562664|Orphanet:178333																		owl:Class
MONDO:0002172	biolink:NamedThing	otosalpingitis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.	mondoexuq1wtf	inflammation of pharyngotympanic tube|pharyngotympanic tube inflammation|Eustachian tube salpingitis|Eustachian salpingitis											ICD10:H68.00|DOID:2000|ICD9:381.5|ICD9:381.50|ICD10:H68.009|UMLS:C0155428|ICD10:H68.0|SCTID:270491006																		owl:Class
MONDO:0014500	biolink:NamedThing	atrial conduction disease	Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted	mondoexuq1wtf	familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease|CARDIAC conduction disease with or without dilated cardiomyopathy|CCDD											Orphanet:436242|UMLS:C4015285|ICD10:I45.8|OMIM:616117|EFO:0005304																		owl:Class
MONDO:0012232	biolink:NamedThing	stuttering, familial persistent, 2		mondoexuq1wtf	stuttering, familial persistent, 2|STUT2											UMLS:C1836484|OMIM:609261|MESH:C563756																		owl:Class
MONDO:0005678	biolink:NamedThing	bovine respiratory disease complex	A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.	mondoexuq1wtf												UMLS:C1449809|EFO:0007180|MESH:D048090																		owl:Class
MONDO:0009833	biolink:NamedThing	Shwachman-Diamond syndrome	Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.	mondoexuq1wtf	Shwachman-Diamond syndrome|Shwachman-Bodian-Diamond syndrome|Schwachman-Diamond syndrome|Shwachman syndrome|lipomatosis of pancreas, congenital|congenital lipomatosis of pancreas|pancreatic insufficiency and bone marrow dysfunction|Shwachman-Diamond type metaphyseal dysplasia|Shwachman-Bodian syndrome|Schwachmann-Diamond syndrome|SDS										MONDO:0000843	OMIMPS:260400|NCIT:C61235|MESH:C537330|SCTID:89454001|GARD:0004863|MedDRA:10067940|Orphanet:811|DOID:0060479|ICD10:D61.0|DOID:0080023														https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome				owl:Class
MONDO:0000741	biolink:NamedThing	angular cheilitis	Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.	mondoexuq1wtf	cheilitis of angle of oral opening|perlèche|angular stomatitis|angular cheilitis|angular cheilosis|cheilosis|angle of oral opening cheilitis|perleche|commissural cheilitis											UMLS:C0221237|NCIT:C112198|ICD10:K13.0|SCTID:16459000|UMLS:C0221264|DOID:0060312																		owl:Class
MONDO:0002270	biolink:NamedThing	viral gastritis	Inflammation of the stomach resulting from viral infection.	mondoexuq1wtf	Viruses caused gastritis (disease)|viral gastritis|Viruses gastritis (disease)											UMLS:C0563238|SCTID:285344007|DOID:2327|NCIT:C27184|ICD9:008.8																		owl:Class
MONDO:0001053	biolink:NamedThing	acute infection of pinna	An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.	mondoexuq1wtf												SCTID:56663002|UMLS:C0155392|ICD9:380.11|COHD:374947|DOID:10520																		owl:Class
MONDO:0023263	biolink:NamedThing	glyceraldehyde-3-phosphate dehydrogenase deficiency		mondoexuq1wtf	GAPDH deficiency											MESH:C536837|GARD:0002510|HGNC:4141|UMLS:C1291264														https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency				owl:Class
MONDO:0008586	biolink:NamedThing	esophageal atresia/tracheoesophageal fistula	Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.	mondoexuq1wtf	esophageal atresia with or without tracheoesophageal fistula|te fistula|TEF|esophageal atresia and/or tracheoesophageal fistula|tracheoesophageal fistula with or without esohageal atresia|tracheoesophageal fistula with or without esophageal atresia|tracheoesophageal fistula											ICD10:Q39.0|Orphanet:1199|MedDRA:10021530|GARD:0007792|DOID:0080171|MESH:C531835|ICD10:Q39.1|MedDRA:10030146|OMIM:189960|SCTID:95435007																		owl:Class
MONDO:0016778	biolink:NamedThing	iatrogenic botulism	Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.	mondoexuq1wtf	accidental botulism|inadvertent botulism											NCIT:C128345|ICD10:A05.1|Orphanet:254509|UMLS:C4288922																		owl:Class
MONDO:0007257	biolink:NamedThing	candidiasis, familial, 1		mondoexuq1wtf	candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|CANDF1|candidiasis, familial, 1|Cmct											MESH:C567779|UMLS:C2751429|OMIM:114580																		owl:Class
MONDO:0020488	biolink:NamedThing	atypical progressive supranuclear palsy syndrome	Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).	mondoexuq1wtf	atypical PSP syndrome											Orphanet:99750|ICD10:G23.1																		owl:Class
MONDO:0016189	biolink:NamedThing	qualitative or quantitative defects of filamin C		mondoexuq1wtf	qualitative or quantitative defects of filamin type C											Orphanet:209047																		owl:Class
MONDO:0100212	biolink:NamedThing	IFAP syndrome		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:308205																		owl:Class
MONDO:0006352	biolink:NamedThing	paranasal sinus adenoid cystic carcinoma	A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.	mondoexuq1wtf	accessory sinus adenoid cystic carcinoma|adenoid cystic carcinoma of accessory sinus|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of paranasal sinus|paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the accessory sinus											EFO:1000454|NCIT:C6019|UMLS:C1335337																		owl:Class
MONDO:0023597	biolink:NamedThing	laryngeal papillomatosis	Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.	mondoexuq1wtf	Warts in the throat|laryngeal papillomatosis|recurrent laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis|juvenile laryngeal papillomatosis|juvenile laryngeal papillomatosis (subtype)					Editor note: compare with MONDO:0000935						SCTID:232457008|GARD:0006864|UMLS:C0396072|MESH:C537876														https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis				owl:Class
MONDO:0013479	biolink:NamedThing	dilated cardiomyopathy 1HH	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1HH|BAG3 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1HH|familial isolated dilated cardiomyopathy caused by mutation in BAG3|cardiomyopathy, dilated, type 1Hh|CMD1HH											ICD10:I42.0|DOID:0110448|OMIM:613881|UMLS:C3151293																		owl:Class
MONDO:0006836	biolink:NamedThing	Listeria meningitis	Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)	mondoexuq1wtf	Listeria meningitis|cerebritis, Listeria|Listeria monocytogenes meningitis|Listeria monocytogenes Meningitides|Cerebritides, Listeria|Listeria monocytogenes infectious meningitis|Listeria meningoencephalitis|Listeria Cerebritides|Listeria cerebritis|Listeria Meningoencephalitides|Meningoencephalitides, Listeria|Listeria Meningitides|Meningitides, Listeria|Meningitides, Listeria monocytogenes|Listeria monocytogenes caused infectious meningitis|meningitis, Listeria monocytogenes|meningoencephalitis, Listeria											DOID:11572|SCTID:31568009|MESH:D008584|UMLS:C0025293|EFO:1001021|ICD9:320.7																		owl:Class
MONDO:0020164	biolink:NamedThing	epicanthal fold		mondoexuq1wtf												ICD10:Q10.3|Orphanet:98573																		owl:Class
MONDO:0033926	biolink:NamedThing	prepubertal anorexia nervosa		mondoexuq1wtf												Orphanet:525738																		owl:Class
MONDO:0014585	biolink:NamedThing	congenital myasthenic syndrome 3C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.	mondoexuq1wtf	myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|CMS3C|congenital myasthenic syndrome type 3C											DOID:0110664|UMLS:C4225370|OMIM:616323																		owl:Class
MONDO:0001701	biolink:NamedThing	gastrointestinal anthrax	An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.	mondoexuq1wtf												ICD9:022.2|DOID:13386|UMLS:C0152945|ICD10:A22.2|MESH:C571911|SCTID:111798006																		owl:Class
MONDO:0010504	biolink:NamedThing	immunodeficiency 47	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.	mondoexuq1wtf	ATP6AP1 primary immunodeficiency disease|IMD47|immunodeficiency 47; IMD47|immunodeficiency type 47|immunodeficiency and hepatopathy with or without neurologic features|immunodeficiency 47|primary immunodeficiency disease caused by mutation in ATP6AP1											OMIM:300972|UMLS:C4310819																		owl:Class
MONDO:0002066	biolink:NamedThing	breast adenomyoepithelioma	A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.	mondoexuq1wtf	malignant adenomyoepithelioma of breast|adenomyoepithelioma of the breast|breast adenomyoepithelioma|breast adenomyoepithelioma with malignant change|BRAME											UMLS:C1510795|ONCOTREE:BRAME|ICDO:8983/0|NCIT:C6899|DOID:1642																		owl:Class
MONDO:0032715	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 69		mondoexuq1wtf	MRT69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69|Mental Retardation, Autosomal Recessive 69											OMIM:618383																		owl:Class
MONDO:0012543	biolink:NamedThing	optic atrophy 5		mondoexuq1wtf	optic atrophy 5|OPA5											GARD:0010201|DOID:0111438|UMLS:C1853139|MESH:C537126|OMIM:610708																		owl:Class
MONDO:0005193	biolink:NamedThing	prostate intraepithelial neoplasia	A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.	mondoexuq1wtf	pin|pin - prostatic intraepithelial neoplasia|prostate intraepithelial neoplasia (pin)|prostatic intraepithelial neoplasia|prostate intraepithelial neopl.											EFO:0002621|NCIT:C4064|MESH:D019048|SCTID:254901000|MP:0009219|UMLS:C0282612																		owl:Class
MONDO:0016331	biolink:NamedThing	infantile systemic hyalinosis	Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	mondoexuq1wtf												Orphanet:2176|ICD10:E78.8|SCTID:238867003																		owl:Class
MONDO:0010572	biolink:NamedThing	occipital horn syndrome	Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.	mondoexuq1wtf	EDS IX (formerly)|cutis laxa X-linked|OHS|Ehlers-Danlos syndrome type IX|occipital horn syndrome|EDS9|Ehlers-Danlos syndrome, occipital horn type, formerly|Ehlers-Danlos syndrome type 9|X-linked cutis laxa|Ehlers-Danlos syndrome, occipital horn type (formerly)|EDS IX, formerly|Ehlers-Danlos syndrome, occipital horn type|cutis laxa, X-linked, formerly|cutis laxa, X-linked|EDS IX|EDS9, formerly											OMIM:304150|ICD10:E83.0|GARD:0004017|SCTID:59399004|Orphanet:198|DOID:0111272|MESH:C537860																		owl:Class
MONDO:0015820	biolink:NamedThing	primary cutaneous B-cell lymphoma		mondoexuq1wtf												SCTID:402881008|COHD:4294435|UMLS:C1274310|Orphanet:178563|ICD9:202.80																		owl:Class
MONDO:0007381	biolink:NamedThing	epithelial recurrent erosion dystrophy	Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.	mondoexuq1wtf	dystrophia Smolandiensis|epithelial recurrent erosion dystrophy|dystrophia Helsinglandica|recurrent hereditary corneal erosions|corneal erosions, recurring hereditary|ERED											Orphanet:293381|OMIM:122400|MESH:C565155|UMLS:C1852551|SCTID:715908008|DOID:0070337|ICD10:H18.5																		owl:Class
MONDO:0003494	biolink:NamedThing	ovarian squamous cell carcinoma	A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.	mondoexuq1wtf	ovary squamous cell carcinoma|ovarian squamous cell carcinoma|ovarian squamous cell cancer											UMLS:C2019443|DOID:5531|EFO:1000432|NCIT:C40093																		owl:Class
MONDO:0012682	biolink:NamedThing	susceptibility to infection due to TYK2 deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene.	mondoexuq1wtf	tyrosine kinase 2 deficiency|TYK2 deficiency|immunodeficiency 35|HIES with atypical Mycobacteriosis, autosomal recessive|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|IMD35|immunodeficiency type 35|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive					Editor note: check if should be placed under MONDO:0018037						OMIM:611521|UMLS:C1969086|ICD10:D82.4|MESH:C566928|Orphanet:331226																		owl:Class
MONDO:0100327	biolink:NamedThing	hypercholanemia, familial		mondoexuq1wtf	hypercholanemia, familial|familial hypercholanemia							http://orcid.org/0000-0001-5208-3432				OMIMPS:607748																		owl:Class
MONDO:0020813	biolink:NamedThing	benign testicular sertoli cell tumor	A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.	mondoexuq1wtf	benign sertoli cell tumor of the testis|benign testicular sertoli cell neoplasm|benign sertoli cell neoplasm of testis|benign testicular sertoli cell tumor|benign sertoli cell tumor of testis|benign sertoli cell neoplasm of the testis											NCIT:C6522																		owl:Class
MONDO:0021447	biolink:NamedThing	benign neoplasm of testis	A benign neoplasm that involves the testis.	mondoexuq1wtf	benign tumor of testis|testis benign neoplasm|benign testicular tumor|benign tumor of the testis|benign neoplasm of the testis|benign testicular neoplasm											SCTID:92428008|UMLS:C0154007|ICD9:222.0|NCIT:C3612																		owl:Class
MONDO:0001334	biolink:NamedThing	hypertrichosis of eyelid	A hypertrichosis (disease) that involves the eyelid.	mondoexuq1wtf	hypertrichosis (disease) of eyelid|eyelid hypertrichosis (disease)											UMLS:C0155213|ICD10:H02.86|ICD9:374.54|SCTID:79830009|DOID:11669																		owl:Class
MONDO:0000589	biolink:NamedThing	autoimmune disease of musculoskeletal system	A hypersensitivity reaction type II disease that involves the musculoskeletal system.	mondoexuq1wtf	musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease											DOID:0060032																		owl:Class
MONDO:0044349	biolink:NamedThing	acquired hemoglobinopathy	An instance of hemoglobinopathy that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired hemoglobinopathy											SCTID:127039000|UMLS:C1263995																		owl:Class
MONDO:0029130	biolink:NamedThing	polydactyly, postaxial, type A8		mondoexuq1wtf	polydactyly, postaxial, type A8|PAPA8											OMIM:618123																		owl:Class
MONDO:0013202	biolink:NamedThing	Waardenburg syndrome type 4C	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.	mondoexuq1wtf	WS4C|Waardenburg syndrome type IVC|Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C|Waardenburg syndrome with Hirschsprung disease, type 4C											DOID:0110955|MESH:C567679|OMIM:613266|UMLS:C2750452																		owl:Class
MONDO:0021467	biolink:NamedThing	benign neoplasm of renal pelvis	A benign neoplasm that involves the renal pelvis.	mondoexuq1wtf	benign kidney pelvis neoplasm|benign renal pelvis neoplasm|benign renal pelvis tumor|benign tumor of renal pelvis|benign neoplasm of the renal pelvis|renal pelvis benign neoplasm|benign tumor of the renal pelvis											UMLS:C0154015|SCTID:92319008|EFO:1000118|ICD9:223.1|NCIT:C3616																		owl:Class
MONDO:0003216	biolink:NamedThing	ureter adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the ureter	mondoexuq1wtf	adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter|ureter adenocarcinoma											UMLS:C1336873|NCIT:C6155|DOID:4938																		owl:Class
MONDO:0011593	biolink:NamedThing	seizures, benign familial infantile, 2		mondoexuq1wtf	convulsions, benign familial infantile, 2|seizures, benign familial infantile, type 2|seizures, benign familial infantile, 2|BFIS2											MESH:C565296|UMLS:C1853995|OMIM:605751																		owl:Class
MONDO:0009700	biolink:NamedThing	Carey-Fineman-Ziter syndrome	Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.	mondoexuq1wtf	Carey-Fineman-Ziter syndrome|Moebius sequence, Robin complex, and hypotonia|Carey Fineman Ziter syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences|myopathy-Moebius-Robin syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|CFZS|CFZ syndrome|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence											UMLS:C1850746|Orphanet:1358|ICD10:Q87.0|ICD9:359.89|OMIM:254940|DOID:0080194|MESH:C536102|GARD:0003889|SCTID:429753001														https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome				owl:Class
MONDO:0001030	biolink:NamedThing	keratoconus, stable condition		mondoexuq1wtf	stable condition keratoconus											UMLS:C0155131|COHD:380110|ICD9:371.61|ICD10:H18.61|SCTID:193844000|DOID:10428																		owl:Class
MONDO:0001716	biolink:NamedThing	corneal argyrosis		mondoexuq1wtf	argentous corneal deposits|argyrosis of cornea											SCTID:21328003|DOID:13447|ICD9:371.16|ICD10:H18.02|UMLS:C0155108																		owl:Class
MONDO:0004092	biolink:NamedThing	thymic basaloid carcinoma	A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.	mondoexuq1wtf	basaloid carcinoma of Thymus|thymic basaloid carcinoma|basaloid carcinoma of the Thymus|thymus basaloid squamous cell carcinoma|Thymus basaloid carcinoma											DOID:7050|NCIT:C6456|UMLS:C1332464																		owl:Class
MONDO:0012024	biolink:NamedThing	retinitis pigmentosa 26	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.	mondoexuq1wtf	retinitis pigmentosa type 26|RP26|retinitis pigmentosa 26|retinitis pigmentosa caused by mutation in CERKL|RP 26|CERKL retinitis pigmentosa											GARD:0010397|DOID:0110368|MESH:C564249|OMIM:608380|ICD10:H35.5|UMLS:C1842127														https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26				owl:Class
MONDO:0015316	biolink:NamedThing	congenital laryngeal palsy	Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.	mondoexuq1wtf	congenital vocal cord paralysis											UMLS:C0396058|Orphanet:137932|ICD10:J38.0|GARD:0012713														https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy				owl:Class
MONDO:0013854	biolink:NamedThing	primary ciliary dyskinesia 17	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.	mondoexuq1wtf	primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, 17|ciliary dyskinesia, primary, 17, with or without situs inversus|CCDC103 primary ciliary dyskinesia|primary ciliary dyskinesia type 17|ciliary dyskinesia, primary, type 17|CILD17|primary ciliary dyskinesia 17 with or without situs inversus											DOID:0110621|UMLS:C3542550|OMIM:614679|ICD10:Q34.8																		owl:Class
MONDO:0001836	biolink:NamedThing	amenorrhea	The absence of menses in a woman who has achieved reproductive age.	mondoexuq1wtf	amenorrhea|amenorrhea (disease)|absence of menstruation|amenia		amenorrhea (disease)									DOID:13938|NCIT:C61443|HP:0000141|MESH:D000568|COHD:443800|UMLS:C0002453|ICD10:N91.2|ICD9:626.0																		owl:Class
MONDO:0002939	biolink:NamedThing	skin pigmented basal cell carcinoma	A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.	mondoexuq1wtf	pigmented basal cell carcinoma|skin pigmented basal cell carcinoma											UMLS:C1368275|DOID:4282|SCTID:403909004|NCIT:C9359																		owl:Class
MONDO:0014200	biolink:NamedThing	aldosterone-producing adenoma with seizures and neurological abnormalities		mondoexuq1wtf	primary aldosteronism, seizures, and neurologic abnormalities|PASNA|Conn adenoma with seizures and neurological abnormalities|aldosterone-secreting adenoma with seizures and neurological abnormalities|apa with seizures and neurological abnormalities											ICD10:E26.0|UMLS:C3809609|Orphanet:369929|OMIM:615474																		owl:Class
MONDO:0013842	biolink:NamedThing	cortisone reductase deficiency 2	Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.	mondoexuq1wtf	cortisone reductase deficiency type 2|cortisone reductase deficiency 2|CORTRD2|HSD11B1 cortisone reductase deficiency|11-beta-hydroxysteroid dehydrogenase type 1 deficiency|cortisone reductase deficiency caused by mutation in HSD11B1											OMIM:614662|DOID:0090140|NCIT:C131084|UMLS:C3553382																		owl:Class
MONDO:0000534	biolink:NamedThing	trachea mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the trachea.	mondoexuq1wtf	trachea mucoepidermoid carcinoma											DOID:0050919|SCTID:707379000|UMLS:C3873401																		owl:Class
MONDO:0022745	biolink:NamedThing	mixed dust pneumoconiosis		mondoexuq1wtf	labrador lung|Mixed dust pneumoconiosis|mixed dust pneumoconiosis											GARD:0008374|SCTID:32139003|UMLS:C0264436|ICD9:504																		owl:Class
MONDO:0009789	biolink:NamedThing	nonarteritic anterior ischemic optic neuropathy, susceptibility to		mondoexuq1wtf	Naion, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to|susceptibility to nonarteritic anterior ischemic optic neuropathy|nonarteritic anterior ischemic optic neuropathy, susceptibility to											OMIM:258660																		owl:Class
MONDO:0007741	biolink:NamedThing	congenital hydronephrosis	Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.	mondoexuq1wtf						Editor note: TODO check relationship to OMIM:143400						UMLS:C0266316|ICD10:Q62.0|MedDRA:10050975|SCTID:16297002|COHD:4037874|NCIT:C102979|Orphanet:2190|ICD9:753.29																		owl:Class
MONDO:0003246	biolink:NamedThing	sclerosing hepatic carcinoma	An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.	mondoexuq1wtf	scirrhous hepatocellular cancer|scirrhous hepatocellular carcinoma|sclerosing hepatocellular carcinoma|sclerosing hepatic carcinoma											DOID:5026|UMLS:C1266018|ICDO:8172/3|NCIT:C27388																		owl:Class
MONDO:0013196	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 8	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.	mondoexuq1wtf	HNPCC8|colorectal cancer, hereditary nonpolyposis, type 8|EPCAM hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in EPCAM											DOID:0070270|OMIM:613244|MESH:C567685|UMLS:C2750471																		owl:Class
MONDO:0019136	biolink:NamedThing	Zygomycosis	Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.	mondoexuq1wtf	mucormycosis|Zygomycota infectious disease										MONDO:0005860	ICD10:B46.1|COHD:432830|Orphanet:73263|MedDRA:10061418|UMLS:C0043541|SCTID:59277005|ICD10:B46.3|ICD10:B46.0|ICD10:B46.4|GARD:0010224|DOID:8485|EFO:0007380|SCTID:76627001|ICD9:117.7|MedDRA:10028098|NCIT:C77212|ICD10:B46.8|ICD10:B46.9|ICD10:B46.5|ICD10:B46|ICD10:B46.2|MESH:D020096|MESH:D009091														https://rarediseases.info.nih.gov/diseases/10224/zygomycosis				owl:Class
MONDO:0010928	biolink:NamedThing	dwarfism, familial, with muscle spasms		mondoexuq1wtf	familial dwarfism and painful muscle spasms|dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms											OMIM:600771|UMLS:C1833341|GARD:0010610|MESH:C563447														https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms				owl:Class
MONDO:0007827	biolink:NamedThing	inclusion body myositis	Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	mondoexuq1wtf	sIBM|inclusion body myositis|IBM2|Ibm|Nonaka myopathy|sporadic inclusion body myositis|IBM|IBM-3|distal myopathy with rimmed vacuoles (DMRV)|hereditary inclusion body myopathy|HIBM|distal myopathy with rimmed vacuoles|inflammatory myopathy|inclusion body myopathy 2|inclusion body myopathy 3											ICD9:729.1|OMIM:147421|DOID:3429|SCTID:72315009|UMLS:C0238190|MedDRA:10066407|ICD10:G72.41|GARD:0003896|ICD10:M60.8|EFO:0007323|COHD:4216406|MESH:D018979|ICD9:359.71|NCIT:C84786|Orphanet:611																		owl:Class
MONDO:0016378	biolink:NamedThing	maternal hyperthermia induced birth defects	Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	mondoexuq1wtf	hyperthermia induced defects											ICD10:Q86.8|UMLS:C0265377|Orphanet:2216|SCTID:765138001|GARD:0002856														https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects				owl:Class
MONDO:0016678	biolink:NamedThing	maternal disease-related embryofetopathy		mondoexuq1wtf												UMLS:CN201921|Orphanet:251535																		owl:Class
MONDO:0018924	biolink:NamedThing	microphthalmia, Lenz type	Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.	mondoexuq1wtf	Lenz microphthalmia|Lenz dysplasia|microphthalmia syndromic 1|syndromic microphthalmia type 1|MCOPS1|microphthalmia Lenz type|MAA (formerly)|Lenz microphthamia syndrome|microphthalmia or anophthalmos with associated anomalies (formerly)					Editors note: TODO check						ICD10:Q11.2|Orphanet:568|GARD:0000087																		owl:Class
MONDO:0042924	biolink:NamedThing	Vagneur-Triolle-Ripert syndrome		mondoexuq1wtf	Vagneur Triolle Ripert syndrome|hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age											GARD:0000271																		owl:Class
MONDO:0016916	biolink:NamedThing	partial deletion of the long arm of chromosome 18		mondoexuq1wtf	partial monosomy of chromosome 18q|chromosome 18q deletion|partial deletion of chromosome 18q|partial deletion of the long arm of chromosome type 18|partial monosomy of the long arm of chromosome 18											Orphanet:262146|ICD10:Q93.5|GARD:0013000																		owl:Class
MONDO:0011224	biolink:NamedThing	monomelic amyotrophy	Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.	mondoexuq1wtf	JMADUE|amyotrophy, monomelic|benign focal amyotrophy|spinal muscular atrophy, juvenile, nonprogressive|juvenile muscular atrophy of distal upper extremity|spinal muscular atrophy juvenile nonprogressive|juvenile muscular atrophy of the distal upper limb|Hirayama disease											MedDRA:10069681|Orphanet:65684|MESH:C538253|UMLS:C1865384|OMIM:602440|ICD10:G12.8|EFO:1001989|GARD:0009697														https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy				owl:Class
MONDO:0020129	biolink:NamedThing	acquired motor neuron disease	An instance of motor neuron disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired anterior horn cell disease|acquired motor neuron disease											Orphanet:98506|UMLS:CN207019																		owl:Class
MONDO:0007853	biolink:NamedThing	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome		mondoexuq1wtf	axonal neuropathy with palmoplantar keratoderma|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy											Orphanet:538574|MESH:C536153|OMIM:148360																		owl:Class
MONDO:0006050	biolink:NamedThing	pleomorphic breast carcinoma	A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.	mondoexuq1wtf	anaplastic breast carcinoma					_:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400						UMLS:C2211689|NCIT:C5161|EFO:1000047|UMLS:C1514169																		owl:Class
MONDO:0002201	biolink:NamedThing	vulvar trichoepithelioma	A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.	mondoexuq1wtf	vulvar trichoepithelioma|mammalian vulva trichoblastoma|trichoblastoma of mammalian vulva|vulvar trichoblastoma											UMLS:C1520100|DOID:2080|NCIT:C40314																		owl:Class
MONDO:0020593	biolink:NamedThing	trichoblastoma	A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.	mondoexuq1wtf	trichoblastoma|trichoepithelioma|trichogenic trichoblastoma|Brooke's tumor|trichoepithelioma, benign|trichogenic adnexal tumor											NCIT:C27132|ICDO:8100/0																		owl:Class
MONDO:0024517	biolink:NamedThing	schwannomatosis 1		mondoexuq1wtf	SWNTS1|SCHWANNOMATOSIS 1|neurilemmomatosis, congenital cutaneous											OMIM:162091|UMLS:C4048809																		owl:Class
MONDO:0044330	biolink:NamedThing	hyperekplexia 4	Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).	mondoexuq1wtf	HKPX4|hyperekplexia 4											UMLS:CN248518|OMIM:618011|DOID:0080581																		owl:Class
MONDO:0016080	biolink:NamedThing	congenital bronchobiliary fistula	Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	mondoexuq1wtf												GARD:0001475|Orphanet:2040|ICD10:Q32.4|SCTID:719452004														https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula				owl:Class
MONDO:0013590	biolink:NamedThing	Stickler syndrome, type 4	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.	mondoexuq1wtf	STL4|autosomal recessive Stickler syndrome caused by mutation in COL9A1|COL9A1 autosomal recessive Stickler syndrome|STICKLER syndrome, type IV											OMIM:614134																		owl:Class
MONDO:0016647	biolink:NamedThing	autosomal recessive Stickler syndrome	A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.	mondoexuq1wtf	Stickler syndrome, autosomal recessive											Orphanet:250984|UMLS:CN201875|ICD10:Q87.5																		owl:Class
MONDO:0001973	biolink:NamedThing	Brucella abortus brucellosis	A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.	mondoexuq1wtf												ICD10:A23.1|DOID:14457|ICD9:023.1|SCTID:427795000																		owl:Class
MONDO:0011105	biolink:NamedThing	alacrima, congenital, autosomal recessive		mondoexuq1wtf	alacrima, congenital, autosomal recessive											OMIM:601549|UMLS:C4012597																		owl:Class
MONDO:0009756	biolink:NamedThing	Niemann-Pick disease type A	Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.	mondoexuq1wtf	sphingomyelinase deficiency|Niemann-PICK disease, type A|Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelin lipidosis											UMLS:C0268242|ICD10:E75.2|NCIT:C126561|SCTID:52165006|GARD:0007206|DOID:0070111|MESH:D052536|OMIM:257200|Orphanet:77292																		owl:Class
MONDO:0003606	biolink:NamedThing	adrenal medulla cancer	A malignant neoplasm involving the adrenal medulla	mondoexuq1wtf	cancer of adrenal medulla|malignant neoplasm of the adrenal medulla|malignant tumor of the adrenal medulla|adrenal medulla cancer|adrenal medulla tumor|malignant adrenal medulla neoplasm|adrenal medulla neoplasm|malignant adrenal medulla tumor|malignant tumor of adrenal medulla|malignant neoplasm of adrenal medulla											DOID:5719|SCTID:371965009|NCIT:C4396|UMLS:C0344456|ICD10:C74.1|GARD:0005755														https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer				owl:Class
MONDO:0009920	biolink:NamedThing	Acrootoocular syndrome	Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	mondoexuq1wtf	Aoo syndrome|pseudopapilledema-blepharophimosis-hand anomalies syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies|acrootoocular syndrome											MESH:C564866|SCTID:720410001|Orphanet:2980|ICD10:Q87.0|OMIM:264475|UMLS:C1849661																		owl:Class
MONDO:0004236	biolink:NamedThing	duodenal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.	mondoexuq1wtf	duodenal somatostatin-producing NET|duodenal somatostatinoma|duodenal somatostatin producing tumor|duodenal somatostatin-producing neuroendocrine tumor|duodenal delta cell somatostatin producing tumor											NCIT:C27407|UMLS:C1333320|DOID:7479																		owl:Class
MONDO:0008432	biolink:NamedThing	ketone compounds, ability to smell		mondoexuq1wtf	ketone compounds, ability to smell											OMIM:182270																		owl:Class
MONDO:0100011	biolink:NamedThing	tendinosis	The chronic degeneration of a tendon without inflammation.	mondoexuq1wtf					2018-07-17 15:58:43+00:00							SCTID:724152009																		owl:Class
MONDO:0003734	biolink:NamedThing	adult central nervous system immature teratoma		mondoexuq1wtf	adult central nervous system immature teratoma											NCIT:C27401|DOID:6018|UMLS:C1332193																		owl:Class
MONDO:0030987	biolink:NamedThing	vertebral, cardiac, tracheoesophageal, renal, and limb defects		mondoexuq1wtf	VCTERL|VCTERL syndrome											OMIM:619227																		owl:Class
MONDO:0013940	biolink:NamedThing	primary ciliary dyskinesia 18	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 18|DNAAF5 primary ciliary dyskinesia|CILD18|ciliary dyskinesia, primary, type 18|primary ciliary dyskinesia 18 with or without situs inversus|primary ciliary dyskinesia caused by mutation in DNAAF5|ciliary dyskinesia, primary, 18, with or without situs inversus|primary ciliary dyskinesia type 18											ICD10:Q34.8|DOID:0110604|UMLS:C3543825|OMIM:614874																		owl:Class
MONDO:0044642	biolink:NamedThing	c11orf73-related autosomal recessive hypomyelinating leukodystrophy		mondoexuq1wtf	hypomyelinating leukodystrophy due to hikeshi deficiency|C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy											Orphanet:495844																		owl:Class
MONDO:0017333	biolink:NamedThing	hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism		mondoexuq1wtf	Pol III-related leukodystrophy											UMLS:CN168056|Orphanet:289494																		owl:Class
MONDO:0016898	biolink:NamedThing	partial monosomy of the short arm of chromosome 20		mondoexuq1wtf	deletion 20p|Pure partial 20p deletion|partial monosomy of chromosome 20p|partial monosomy of the short arm of chromosome type 20|partial monosomy 20p|20p monosomy|partial deletion of the short arm of chromosome 20|partial deletion of chromosome 20p|20p deletion|chromosome 20p deletion|monosomy 20p											MESH:C535370|UMLS:CN036364|Orphanet:261992|ICD10:Q93.5|GARD:0003739																		owl:Class
MONDO:0016882	biolink:NamedThing	partial deletion of chromosome 20		mondoexuq1wtf	partial deletion of chromosome type 20|partial monosomy of chromosome 20											ICD10:Q93.5|Orphanet:261846																		owl:Class
MONDO:0009301	biolink:NamedThing	46,XY sex reversal 7		mondoexuq1wtf	46,XY SEX reversal 7|46,XY Sex reversal type 7|gonadal dysgenesis, XY, Male-limited|46,XY gonadal dysgenesis, partial or complete, Dhh-related|SRXY7|46,XY Sex reversal, partial or complete, Dhh-related|46,XY sex reversal 7											MESH:C565537|OMIM:233420|DOID:0111774																		owl:Class
MONDO:0007430	biolink:NamedThing	dens evaginatus		mondoexuq1wtf	dens evaginatus											SCTID:63691004|OMIM:125280																		owl:Class
MONDO:0009445	biolink:NamedThing	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.	mondoexuq1wtf	Dykes-Marks-Harper syndrome|Dykes-Markes-Harper syndrome|Dykes Markes Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration											UMLS:C1275088|ICD9:571.8|OMIM:242520|GARD:0001993|SCTID:403779009|ICD10:Q87.8|Orphanet:2274|MESH:C535727																		owl:Class
MONDO:0013031	biolink:NamedThing	chromosome 5Q14.3 deletion syndrome, distal		mondoexuq1wtf	heterotopia, periventricular, associated with chromosome 5Q deletion|chromosome 5Q14.3 deletion syndrome, distal|periventricular nodular heterotopia 5											MESH:C567876|OMIM:612881|UMLS:C2752071																		owl:Class
MONDO:0015357	biolink:NamedThing	secondary hypoparathyroidism due to impaired parathormon secretion		mondoexuq1wtf												Orphanet:140286|UMLS:CN242104|ICD10:E20.8																		owl:Class
MONDO:0015752	biolink:NamedThing	intellectual disability-cataracts-kyphosis syndrome	This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.	mondoexuq1wtf												UMLS:CN226733|Orphanet:171860																		owl:Class
MONDO:0024613	biolink:NamedThing	bipolar depression	The depressive stage of bipolar disorder.	mondoexuq1wtf	bipolar affective disorder, current episode depression|manic-depressive - now depressed|bipolar depression											NCIT:C34424|SCTID:191627008																		owl:Class
MONDO:0004505	biolink:NamedThing	central breast papilloma	A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.	mondoexuq1wtf	large duct breast papilloma|solitary intraductal breast papilloma											UMLS:C1332896|DOID:8224|NCIT:C36087																		owl:Class
MONDO:0004873	biolink:NamedThing	internal hemorrhoid	A hemorrhoid which originates above the dentate line.	mondoexuq1wtf	internal hemorrhoid											ICD9:455.6|NCIT:C35319|ICD9:455.2|SCTID:90458007|UMLS:C0265034|DOID:9749																		owl:Class
MONDO:0014244	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 7	Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'	mondoexuq1wtf	SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|CIP with hyperhidrosis and gastrointestinal dysfunction|HSAN 7|insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|neuropathy, hereditary sensory and autonomic, type VII|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|neuropathy, hereditary sensory and autonomic, type 7|HSAN with hyperhidrosis and gastrointestinal dysfunction|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN VII|hereditary sensory and autonomic neuropathy type VII|HSAN7											OMIM:615548|GARD:0012732|ICD10:G60.8|UMLS:C3809882|GARD:12723|NCIT:C125388|Orphanet:391397|DOID:0070149														https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7				owl:Class
MONDO:0009588	biolink:NamedThing	Langer mesomelic dysplasia	Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.	mondoexuq1wtf	Langer mesomelic dysplasia|mesomelic dwarfism, Langer type|Langer syndrome|dyschondrosteosis, homozygous|mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|LMD|Langer type mesomelic dysplasia											OMIM:249700|SCTID:38494008|ICD9:756.59|UMLS:C0432230|GARD:0003553|MESH:C537267|ICD10:Q87.1|Orphanet:2632|NCIT:C126876														https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia				owl:Class
MONDO:0004040	biolink:NamedThing	urinary bladder inverted papilloma	A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	mondoexuq1wtf	urinary bladder inverted papilloma|bladder inverted papilloma											SCTID:447765004|DOID:6932|NCIT:C39859|UMLS:C1511190																		owl:Class
MONDO:0004749	biolink:NamedThing	myocardium cancer	A malignant neoplasm involving the myocardium.	mondoexuq1wtf	malignant neoplasm of myocardium|malignant myocardial tumor|myocardium cancer|malignant tumor of myocardium|malignant neoplasm of the myocardium|cancer of myocardium|tumor of myocardium|malignant myocardial neoplasm|malignant myocardium neoplasm|malignant tumor of the myocardium											NCIT:C4569|UMLS:C0346611|DOID:9299																		owl:Class
MONDO:0018599	biolink:NamedThing	congenital oculomotor nerve palsy		mondoexuq1wtf	congenital third cranial nerve palsy|congenital CNIII lesion											Orphanet:440221|ICD10:Q07.8																		owl:Class
MONDO:0015390	biolink:NamedThing	proboscis lateralis	Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.	mondoexuq1wtf	congenital tubular nose											Orphanet:141099|UMLS:C4274985|SCTID:715828006|ICD10:Q30.8																		owl:Class
MONDO:0013045	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 3		mondoexuq1wtf	MTBS3|Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3											OMIM:612929																		owl:Class
MONDO:0002227	biolink:NamedThing	ovarian lymphoma	A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.	mondoexuq1wtf	ovary lymphoma|primary ovarian lymphoma|lymphoma of ovary|ovarian lymphoma											NCIT:C40021|DOID:2150|UMLS:C1518720																		owl:Class
MONDO:0600011	biolink:NamedThing	mild hypophosphatasia	Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.	mondoexuq1wtf	attenuated hypophosphatasia							http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0005030	biolink:NamedThing	fetal growth restriction	A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.	mondoexuq1wtf	fetal growth retardation|fetus small for gestational Age|intrauterine Growth restriction|intrauterine Growth retardation|fetal small for gestational Age|IUGR|fetal Growth retardation|fetal SGA					Editor note: check if should be a disease						ICD9:764.96|NCIT:C114875|ICD9:764.99|ICD9:764.95|SCTID:22033007|MESH:D005317|EFO:0000495|ICD9:764.97|ICD9:764.90|ICD9:764.93|ICD9:764.9|ICD9:764.92|COHD:80204|ICD9:764.94|ICD9:764.91|ICD9:764.98																		owl:Class
MONDO:0009569	biolink:NamedThing	Hennekam-Beemer syndrome	Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.	mondoexuq1wtf	Hennekam Beemer syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|mastocytosis-short stature-hearing loss syndrome|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|mastocytosis cutaneous with short stature conductive hearing loss and microtia											GARD:0003409|OMIM:248910|Orphanet:2135|SCTID:722453009|UMLS:CN201032|MESH:C536033|ICD10:Q82.2														https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia				owl:Class
MONDO:0002846	biolink:NamedThing	granulomatous gastritis	Gastritis that is associated with the presence of granulomas.	mondoexuq1wtf	granulomatous gastritis											ICD10:K29.6|DOID:4038|UMLS:C1112577|NCIT:C27348																		owl:Class
MONDO:0017902	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency											ICD10:D84.8|Orphanet:319574|UMLS:CN203961																		owl:Class
MONDO:0012368	biolink:NamedThing	aminoacylase 1 deficiency	Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.	mondoexuq1wtf	deficiency of the aminoacylase-1 enzyme|neurological conditions associated with aminoacylase 1 deficiency|ACY1 deficiency|N-acyl-L-amino acid amidohydrolase deficiency|ACY1D|aminoacylase 1 deficiency											SCTID:709282004|EFO:1001981|GARD:0009741|MESH:C538246|UMLS:C1835922|OMIM:609924|ICD10:E72.8|Orphanet:137754|ICD9:270.8														https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency				owl:Class
MONDO:0009411	biolink:NamedThing	autoimmune polyendocrine syndrome type 1	Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.	mondoexuq1wtf	APS 1|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune polyglandular syndrome, type 1|AIRE autoimmune polyendocrinopathy|ham syndrome|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyglandular syndrome I|aire autoimmune polyendocrinopathy|polyglandular autoimmune syndrome, type 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|autoimmune polyendocrinopathy syndrome type 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|autoimmune polyglandular syndrome type 1|autoimmune polyendocrinopathy caused by mutation in aire|Whitaker syndrome|APS1|Whitaker syndrom|PGA 1|multiple endocrine deficiency-Addison disease-candidiasis syndrome|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|autoimmune polyendocrinopathy type 1|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|polyglandular autoimmune syndrome type 1|autoimmune polyendocrine syndrome type 1|APECED syndrome|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|autoimmune polyendocrinopathy caused by mutation in AIRE|polyglandular deficiency syndrome, Persian-Jewish type|MEDAC syndrome|APS type 1											GARD:0005558|GARD:0008466|Orphanet:3453|SCTID:11244009|ICD9:258.8|NCIT:C129727|UMLS:C0085859|DOID:0050167|OMIM:240300|ICD10:E31.0																		owl:Class
MONDO:0016991	biolink:NamedThing	acute necrotizing encephalopathy of childhood	Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	mondoexuq1wtf	isolated acute necrotizing encephalopathy|ANEC|isolated ANE											ICD10:G31.8|SCTID:763310000|Orphanet:263524																		owl:Class
MONDO:0001799	biolink:NamedThing	localized anterior staphyloma		mondoexuq1wtf	anterior staphyloma, localized											ICD9:379.14|DOID:13787|SCTID:21946002|ICD10:H15.82|UMLS:C0155362																		owl:Class
MONDO:0010468	biolink:NamedThing	aneurysm, intracranial berry, 5		mondoexuq1wtf	ANIB5|aneurysm, intracranial BERRY, 5											MESH:C563670|OMIM:300870|UMLS:C1835857																		owl:Class
MONDO:0021656	biolink:NamedThing	nongerminomatous germ cell tumor	A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.	mondoexuq1wtf	Nongerminomatous germ cell tumor|NSGCT|non-seminomatous germ cell tumor|Nongerminomatous germ cell tumor Including central nervous system|non-germinomatous germ cell tumor|non-dysgerminomatous germ cell tumor											NCIT:C121619|ONCOTREE:NSGCT|GARD:0010165																		owl:Class
MONDO:0032733	biolink:NamedThing	global developmental delay, progressive ataxia, and elevated glutamine		mondoexuq1wtf	GDPAG|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia|GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE											OMIM:618412																		owl:Class
MONDO:0016041	biolink:NamedThing	congenital microgastria	Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.	mondoexuq1wtf												ICD10:Q40.2|Orphanet:199293|SCTID:83714006|ICD9:750.7																		owl:Class
MONDO:0011906	biolink:NamedThing	congenital bile acid synthesis defect 1	Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.	mondoexuq1wtf	bile acid synthesis defect, congenital, type 1|BASD1|congenital bile acid synthesis defect, type 1|HSD3B7 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, 1|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1|congenital bile acid synthesis defect caused by mutation in HSD3B7|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|congenital bile acid synthesis defect type 1|CBAS1											GARD:0009813|MESH:C535442|Orphanet:79301|OMIM:607765|DOID:0111071|ICD10:K76.8																		owl:Class
MONDO:0022822	biolink:NamedThing	congenital cardiovascular shunt		mondoexuq1wtf												GARD:0006154														https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt				owl:Class
MONDO:0024633	biolink:NamedThing	hypertensive renal disease	Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.	mondoexuq1wtf	hypertensive nephropathy|hypertensive renal disease											ICD9:403.90|NCIT:C4757|SCTID:38481006																		owl:Class
MONDO:0022577	biolink:NamedThing	Billet bear syndrome	A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.	mondoexuq1wtf	billet-bear syndrome|Lower limb partial duplication renal agenesis											GARD:0000892														https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome				owl:Class
MONDO:0009055	biolink:NamedThing	cutis marmorata telangiectatica congenita	Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.	mondoexuq1wtf	cutis marmorata telangiectatica congenita|Van Lohuizen syndrome|cutis marmorata telangiectatica congenita (disease)|CMTC|hereditary cutis marmorata telangiectatica congenita		cutis marmorata telangiectatica congenita (disease)									Orphanet:1556|ICD9:757.8|GARD:0006228|OMIM:219250|SCTID:254778000|ICD10:Q82.8|MESH:C536226|HP:0025107																		owl:Class
MONDO:0015213	biolink:NamedThing	non-syndromic visceral malformation		mondoexuq1wtf	isolated visceral malformation|nonsyndromic visceral malformation											Orphanet:108971																		owl:Class
MONDO:0009279	biolink:NamedThing	triple-A syndrome	Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.	mondoexuq1wtf	achalasia-addisonianism-alacrima syndrome|triple-a syndrome|Double A syndrome|achalasia addisonianism alacrimia syndrome|Addisonian achalasia syndrome|AAAS|triple A syndrome|achalasia-addisonianism-alacrimia syndrome|quaternary A syndrome|Allgrove syndrome|alacrima-achalasia-addisonianism|achalasia alacrima syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|glucocorticoid deficiency and achalasia|AAA|4A syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|Addisonian-achalasia syndrome|3A syndrome|achalasia-alacrima syndrome|hypoadrenalism with achalasia|2A syndrome|AAA syndrome|adrenal insufficiency-achalasia-alacrima syndrome											NCIT:C131005|ICD10:E27.4|OMIM:231550|DOID:0050602|EFO:1001997|ICD9:255.41|Orphanet:869|GARD:0000457|SCTID:45414006|MESH:C536008														https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome				owl:Class
MONDO:0014431	biolink:NamedThing	LIPE-related familial partial lipodystrophy		mondoexuq1wtf	lipodystrophy, familial partial, associated with Lipe mutations|familial partial lipodystrophy type 6|lipodystrophy, familial partial, type 6|LIPE-related FPLD|familial partial lipodystrophy associated with LIPE mutations|FPLD6											ICD10:E88.1|UMLS:C4014869|GARD:0013126|OMIM:615980|DOID:0070206|Orphanet:435660														https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy				owl:Class
MONDO:0008951	biolink:NamedThing	cerebrocortical degeneration of infancy		mondoexuq1wtf	cerebrocortical degeneration of infancy											MESH:C565863|OMIM:213950|UMLS:C1859257																		owl:Class
MONDO:0007524	biolink:NamedThing	autosomal dominant Ehlers-Danlos syndrome, vascular type	The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	mondoexuq1wtf	Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, Ecchymotic type|autosomal dominant type IV Ehlers-Danlos syndrome|EDS 4|EDSVASC|Ehlers-Danlos syndrome, arterial type|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, sack-Barabas type|Ehlers-Danlos syndrome, type IV, autosomal dominant											OMIM:130050|DOID:14756																		owl:Class
MONDO:0015611	biolink:NamedThing	neutral lipid storage disease	Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.	mondoexuq1wtf	Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease					Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype.						ICD10:E75.5|Orphanet:165|GARD:0003262|UMLS:CN199983|DOID:0050729																		owl:Class
MONDO:0008386	biolink:NamedThing	Axenfeld-Rieger syndrome type 1	A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.	mondoexuq1wtf	Rieger syndrome type 1|RIEG1|Axenfeld-Rieger syndrome caused by mutation in PITX2|Rieger syndrome, type 1|PITX2 Axenfeld-Rieger syndrome|Axenfeld-Rieger syndrome, type 1|Rieg|Rgs											NCIT:C75015|UMLS:C3714873|ICD10:Q13.8|DOID:0110120|OMIM:180500																		owl:Class
MONDO:0018256	biolink:NamedThing	acute myeloid leukemia with t(8;16)(p11;p13) translocation	A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.	mondoexuq1wtf	AML with t(8;16)(p11;p13) translocation											SCTID:725390002|UMLS:CN204831|UMLS:C4511003|Orphanet:370026|ICD10:C92.0																		owl:Class
MONDO:0015259	biolink:NamedThing	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	mondoexuq1wtf	brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face|Stratton-Garcia-Young syndrome|brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face											ICD10:Q87.8|GARD:0005036|UMLS:CN199165|Orphanet:1277														https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome				owl:Class
MONDO:0033635	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 3		mondoexuq1wtf	MC4DN3											OMIM:619046																		owl:Class
MONDO:0012594	biolink:NamedThing	complement factor I deficiency		mondoexuq1wtf	CFID|complement Factor 1 deficiency|complement component 3 inactivator deficiency|complement factor I deficiency|C3 inactivator deficiency|immunodeficiency with factor I anomaly											UMLS:C3463916|ICD10:D84.1|OMIM:610984|DOID:0050419|MESH:C572568|Orphanet:200418																		owl:Class
MONDO:0010546	biolink:NamedThing	central incisors, absence of		mondoexuq1wtf	central incisors, absence of											OMIM:302400																		owl:Class
MONDO:0022556	biolink:NamedThing	oculo-cerebral dysplasia		mondoexuq1wtf	unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia|Behrens-Baumann-Vogel syndrome|Behrens Baumann dust syndrome					Editor note: TODO update from ORDO						GARD:0004021														https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia				owl:Class
MONDO:0005809	biolink:NamedThing	infectious ectromelia	A viral infection of mice, causing edema and necrosis followed by limb loss.	mondoexuq1wtf												EFO:0007325|MESH:D004482|UMLS:C0013591																		owl:Class
MONDO:0011104	biolink:NamedThing	cataract 3 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.	mondoexuq1wtf	CTRCT3|cataract 3, multiple types, with or without microcornea|CCA2|cataract 3, multiple types|cataract (disease) caused by mutation in CRYBB2|congenital cerulean type cataract 2|cataract 3 multiple types with or without microcornea|CRYBB2 cataract (disease)|cataract, congenital, cerulean type, 2											MESH:C563294|UMLS:C1832175|ICD10:Q12.0|DOID:0110269|OMIM:601547																		owl:Class
MONDO:0006421	biolink:NamedThing	small intestinal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf												EFO:1000538|UMLS:C1710112|NCIT:C43552																		owl:Class
MONDO:0024660	biolink:NamedThing	tubular adenoma	A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.	mondoexuq1wtf	tubular adenoma|adenoma, tubular cell, benign											UMLS:C0334292|NCIT:C4133|ICDO:8211/0|SCTID:444408007																		owl:Class
MONDO:0032645	biolink:NamedThing	trichohepatoneurodevelopmental syndrome		mondoexuq1wtf	THNS|TRICHOHEPATONEURODEVELOPMENTAL SYNDROME											OMIM:618268																		owl:Class
MONDO:0032592	biolink:NamedThing	cardiomyopathy, dilated, 2c		mondoexuq1wtf	CARDIOMYOPATHY, DILATED, 2C|CMD2C											OMIM:618189																		owl:Class
MONDO:0015436	biolink:NamedThing	ring chromosome 20	Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	mondoexuq1wtf	chromosome 20 ring|R20|Ring chromosome 20 syndrome|Ring chromosome type 20|Ring 20											MESH:C580424|GARD:0001334|ICD9:758.89|NCIT:C169001|ICD10:Q93.2|SCTID:23686004|Orphanet:1444														https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20				owl:Class
MONDO:0007836	biolink:NamedThing	IVIC syndrome	IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	mondoexuq1wtf	oculootoradial syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|OORS|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|IVIC syndrome|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|oculo-oto-radial syndrome											Orphanet:2307|GARD:0000269|DOID:0111381|MESH:C535544|SCTID:722019000|UMLS:C1327918|OMIM:147750|ICD10:Q71.8														https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome				owl:Class
MONDO:0007708	biolink:NamedThing	Kasabach-Merritt syndrome	Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.	mondoexuq1wtf	thrombocytopenia-hemangioma syndrome|Kasabach-Merritt syndrome|thrombopenia-hemangioma syndrome|KMP|Kasabach Merritt syndrome|hemangioma-thrombocytopenia syndrome|hemangioma-hemorrhage syndrome|hemangiomatosis with thrombocytopenia|hemangioma thrombocytopenia syndrome|Kasabach Merritt phenomenon											SCTID:86635005|Orphanet:2330|ICD10:D18.0|NCIT:C3821|ICD9:287.39|OMIM:141000|MESH:D059885|MedDRA:10058423|UMLS:C0221025|GARD:0000070																		owl:Class
MONDO:0027694	biolink:NamedThing	amyotrophic lateral sclerosis type 23		mondoexuq1wtf	amyotrophic lateral sclerosis 23|ALS23											UMLS:CN778765|DOID:0080225|OMIM:617839																		owl:Class
MONDO:0015750	biolink:NamedThing	amelogenesis imperfecta-gingival hyperplasia syndrome	This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.	mondoexuq1wtf												UMLS:CN200302|Orphanet:171836|ICD10:K00.5														https://github.com/monarch-initiative/mondo/issues/3537				owl:Class
MONDO:0004457	biolink:NamedThing	maxillary sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.	mondoexuq1wtf	Schneiderian papilloma of maxillary sinus|maxillary sinus Schneiderian papilloma|maxillary sinus paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus											UMLS:C1334646|NCIT:C6839|DOID:8093																		owl:Class
MONDO:0007515	biolink:NamedThing	ectopia pupillae		mondoexuq1wtf	ectopia pupillae (disease)|ectopia pupillae|familial ectopic pupil|congenital eye malformation in which the pupils are displaced from their normal central position		ectopia pupillae (disease)									HP:0009918|OMIM:129750|GARD:0008490|MESH:C536185|SCTID:193523008																		owl:Class
MONDO:0022937	biolink:NamedThing	deafness conductive stapedial ear malformation facial palsy		mondoexuq1wtf												GARD:0001684														https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy				owl:Class
MONDO:0015249	biolink:NamedThing	mitral atresia disorder	A congenital heart defect characterized by the complete atresia of the mitral valve.	mondoexuq1wtf	mitral valve atresia|congenital mitral valve atresia|congenital atresia of mitral valve|mitral atresia											HP:0011560|SCTID:23063005|NCIT:C98992|Orphanet:1205|GARD:0003685|ICD10:Q23.2																		owl:Class
MONDO:0021534	biolink:NamedThing	rectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	rectum carcinoid tumor|rectum neuroendocrine tumor, well differentiated, low grade|rectal carcinoid|rectal NET G1|rectum NET G1|carcinoid of the rectum|carcinoid of rectum|rectum neuroendocrine neoplasm G1|rectal carcinoid tumor|carcinoid tumor of rectum|rectal neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of rectum|carcinoid tumor of the rectum|rectum carcinoid tumor (disease)											SCTID:713306000|NCIT:C5547|UMLS:C1335678																		owl:Class
MONDO:0015068	biolink:NamedThing	neuroendocrine tumor of rectum, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.	mondoexuq1wtf	neuroendocrine tumor of the rectum|rectal neuroendocrine tumor											UMLS:CN197361|NCIT:C135213																		owl:Class
MONDO:0018967	biolink:NamedThing	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		mondoexuq1wtf						Editor note: classified as both isolated and syndromic in ORDO						ICD10:E23.0|Orphanet:632																		owl:Class
MONDO:0054741	biolink:NamedThing	combined oxidative phosphorylation deficiency 34		mondoexuq1wtf	COXPD34|combined oxidative phosphorylation deficiency 34											OMIM:617872|DOID:0111497																		owl:Class
MONDO:0040925	biolink:NamedThing	latent yaws		mondoexuq1wtf	latent yaws											SCTID:186973005|UMLS:C0153240																		owl:Class
MONDO:0012253	biolink:NamedThing	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	mondoexuq1wtf	epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia											UMLS:C1836315|Orphanet:166029|OMIM:609324|MESH:C563736|ICD10:Q77.3																		owl:Class
MONDO:0011701	biolink:NamedThing	inflammatory bowel disease 4	An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.	mondoexuq1wtf	inflammatory bowel disease type 4|inflammatory bowel disease 4|IBD4											MESH:C564680|UMLS:C1847691|OMIM:606675|DOID:0110903																		owl:Class
MONDO:0014031	biolink:NamedThing	microcephalic primordial dwarfism, Alazami type	Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.	mondoexuq1wtf	Alazami syndrome|facial dysmorphism, intellectual disability, and primordial dwarfism|ALAZS											OMIM:615071|Orphanet:319671|ICD10:Q87.1|UMLS:C3554439																		owl:Class
MONDO:0017309	biolink:NamedThing	neonatal Marfan syndrome	Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	mondoexuq1wtf	neonatal MFS											UMLS:CN536247|SCTID:763839005|Orphanet:284979|ICD10:Q87.4|UMLS:CN202885																		owl:Class
MONDO:0015741	biolink:NamedThing	distal trisomy 18q		mondoexuq1wtf	distal duplication 18q|telomeric duplication 18q|trisomy 18qter|distal trisomy type 18q											Orphanet:1716|ICD10:Q92.3																		owl:Class
MONDO:0016968	biolink:NamedThing	partial trisomy of the long arm of chromosome 18		mondoexuq1wtf	18q trisomy|partial trisomy of chromosome 18q|18q duplication|partial duplication of chromosome 18q|partial duplication of the long arm of chromosome 18|Duplication 18q|partial trisomy of the long arm of chromosome type 18|trisomy 18q|chromosome 18q duplication|18q partial trisomy											GARD:0005324|MESH:C538308|Orphanet:262977|UMLS:C0809935																		owl:Class
MONDO:0003770	biolink:NamedThing	thoracic spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the thoracic region of the spinal cord.	mondoexuq1wtf	thoracic intraspinal meningioma|meningioma of the thoracic spinal canal and spinal cord|meningioma of thoracic spinal canal and spinal cord											NCIT:C5297|DOID:6103|UMLS:C1336738																		owl:Class
MONDO:0003850	biolink:NamedThing	clivus chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.	mondoexuq1wtf	chondroid chordoma of clivus|chondroid chordoma of clivus of occipital bone|chondroid chordoma of the clivus|clivus of occipital bone chondroid chordoma											UMLS:C1333072|NCIT:C5426|DOID:6313																		owl:Class
MONDO:0032651	biolink:NamedThing	fibrosis, neurodegeneration, and cerebral angiomatosis		mondoexuq1wtf	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS|FINCA											OMIM:618278																		owl:Class
MONDO:0006765	biolink:NamedThing	Fusobacterium infectious disease	Infections with bacteria of the genus fusobacterium.	mondoexuq1wtf	Fusobacterium caused disease or disorder|infection caused by Fusobacterium|Fusobacterium disease or disorder|infection due to Fusobacterium											UMLS:C4039413|EFO:1000943|ICD9:041.84|SCTID:712657002																		owl:Class
MONDO:0030912	biolink:NamedThing	intellectual disability, autosomal dominant 47		mondoexuq1wtf	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|intellectual disability, autosomal dominant 47|MRD47|mental retardation, autosomal dominant 47|autosomal dominant mental retardation 47|autosomal dominant intellectual disability 47											UMLS:CN429988|OMIM:617635|DOID:0080238|Orphanet:502434																		owl:Class
MONDO:0015564	biolink:NamedThing	Castleman disease	Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.	mondoexuq1wtf	AFLH|giant lymph node hyperplasia|GLNH|angiofollicular ganglionic hyperplasia|angiofollicular lymph hyperplasia|Castleman's disease|Castleman disease|Castleman's tumor|lymphoid hamartoma|ALNH|angiofollicular lymphoid hyperplasia|angiofollicular lymph node hyperplasia											EFO:1001332|MedDRA:10050251|DOID:0111157|UMLS:C2931179|UMLS:C0017531|GARD:0000673|ICD10:D47.Z2|Orphanet:160|NCIT:C3056|SCTID:207036003|ICD10:D47.4|UMLS:CN199886|GARD:0012656																		owl:Class
MONDO:0006716	biolink:NamedThing	coronary thrombosis	Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.	mondoexuq1wtf	coronary vessel thrombotic disease|coronary artery thrombosis|thrombotic disease of coronary vessel											EFO:1000883|UMLS:C0010072|MedDRA:10011108|MESH:D003328|ICD10:I22|ICD10:I21|SCTID:398274000|DOID:11847																		owl:Class
MONDO:0004334	biolink:NamedThing	non-functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.	mondoexuq1wtf	non-functioning neuroendocrine tumor of pancreas|non-functional pancreatic neuroendocrine tumor|non-functioning endocrine pancreatic tumors|non-functioning well-differentiated pancreatic NEN|nonfunctional pancreatic neuroendocrine tumor|nonsyndromic pancreatic endocrine tumor|non functioning pancreatic endocrine tumor|non-syndromic pancreatic neuroendocrine tumor|non-functioning pancreatic endocrine tumor|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non-functioning well-differentiated NEN of pancreas|non-functioning EPTs|non-functioning pancreatic NET|nonfunctional pancreatic NET|non-functioning PNET|inactive pancreatic endocrine tumor|non-functioning pancreatic neuroendocrine tumor|nonsyndromic pancreatic neuroendocrine tumor|non-functioning well differentiated pancreatic endocrine tumor|non-syndromic pancreatic NET|non-functioning well-differentiated pancreatic neuroendocrine neoplasm											NCIT:C45837|MESH:C536126|ICDO:8150/3|Orphanet:506075|UMLS:C1334977|EFO:1000398|GARD:0004002|DOID:7698														https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor				owl:Class
MONDO:0006810	biolink:NamedThing	intracranial hypertension	A finding characterized by increased cerebrospinal fluid pressure within the skull.	mondoexuq1wtf	raised intracranial pressure											MedDRA:10022764|MESH:D019586|EFO:1000992|DOID:9428|UMLS:C0151740																		owl:Class
MONDO:0007898	biolink:NamedThing	leukocyte nuclear appendages, hereditary prevalence of		mondoexuq1wtf	leukocyte nuclear appendages, hereditary prevalence of											MESH:C563626|UMLS:C1835405|OMIM:151500																		owl:Class
MONDO:0002758	biolink:NamedThing	vulva verrucous carcinoma	A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.	mondoexuq1wtf	verrucous carcinoma of vulva|verrucous carcinoma of the vulva|mammalian vulva verrucous carcinoma|vulvar verrucous carcinoma											DOID:3740|NCIT:C6383|UMLS:C1336983																		owl:Class
MONDO:0001559	biolink:NamedThing	perineocele		mondoexuq1wtf												DOID:12637|ICD9:618.05|ICD10:N81.81																		owl:Class
MONDO:0007568	biolink:NamedThing	aortic aneurysm, familial thoracic 4	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.	mondoexuq1wtf	familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm, familial thoracic type 4|aortic aneurysm/aortic dissection and patent ductus arteriosus|MYH11 familial thoracic aortic aneurysm and aortic dissection|FAA4|aortic aneurysm, familial thoracic 4|AAT4											OMIM:132900|UMLS:C1851504|MESH:C537784|GARD:0009876														https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4				owl:Class
MONDO:0002695	biolink:NamedThing	sagittal sinus thrombosis	Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.	mondoexuq1wtf	thrombosis of superior longitudinal sinus|thrombosis of superior sagittal sinus											DOID:3576|SCTID:192760003|MESH:D020225|UMLS:C0338575																		owl:Class
MONDO:0002729	biolink:NamedThing	rhabdoid tumor of the kidney	A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.	mondoexuq1wtf	kidney rhabdoid cancer|kidney rhabdoid tumor|renal rhabdoid tumor|rhabdoid tumor of the kidney (RTK)|malignant rhabdoid tumor of the kidney|rhabdoid tumor of the kidney|MRTK|rhabdoid tumour of the kidney|rhabdoid neoplasm of the kidney|rhabdoid tumour of kidney|renal rhabdoid neoplasm|malignant rhabdoid tumor of kidney|rhabdoid neoplasm of kidney											UMLS:C0854917|EFO:1000512|DOID:3674|NCIT:C8715																		owl:Class
MONDO:0014620	biolink:NamedThing	myoclonic dystonia 26	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.	mondoexuq1wtf	dystonia 26, myoclonic|DYT26|myoclonic dystonia type 26|KCTD17 myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in KCTD17											DOID:0090036|UMLS:C4225341|OMIM:616398																		owl:Class
MONDO:0000707	biolink:NamedThing	diversion colitis	A colitis which can occur as a complication of ileostomy or colostomy.	mondoexuq1wtf												UMLS:C0267532|SCTID:51290000|DOID:0060187|ICD9:558|ICD9:558.9|ICD10:K52																		owl:Class
MONDO:0008414	biolink:NamedThing	schizophrenia 1	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.	mondoexuq1wtf	schizophrenia 1 with or without an affective disorder|SCZD1|schizophrenia 1|schizophrenia susceptibility locus, chromosome 5-related											OMIM:181510|DOID:0070077																		owl:Class
MONDO:0011632	biolink:NamedThing	amyotrophic lateral sclerosis type 21	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 21|myopathy, distal, 2|amyotrophic lateral sclerosis caused by mutation in MATR3|myopathy, distal, 2, formerly|ALS21|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|MATR3 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 21|vocal cord and pharyngeal dysfunction with distal myopathy											OMIM:606070|NCIT:C168755|DOID:0060212																		owl:Class
MONDO:0018430	biolink:NamedThing	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	mondoexuq1wtf												ICD10:Q04.3|UMLS:CN226145|Orphanet:401959																		owl:Class
MONDO:0007981	biolink:NamedThing	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A		mondoexuq1wtf	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a											OMIM:156310|MESH:C563587|UMLS:C1835007																		owl:Class
MONDO:0100286	biolink:NamedThing	respiratory syncytial virus bronchiolitis	Bronciolitis caused by infection with respiratory syncytial virus.	mondoexuq1wtf	RSV bronchiolitis							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0006316	biolink:NamedThing	neuroblastic tumor	A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.	mondoexuq1wtf	neuroblastic tumor											EFO:1000393|NCIT:C6963|UMLS:C1334953																		owl:Class
MONDO:0010652	biolink:NamedThing	X-linked intellectual disability-seizures-psoriasis syndrome	X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.	mondoexuq1wtf	mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked intellectual disability associated with psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|intellectual disability and psoriasis|X-linked mental retardation associated with psoriasis|Tranebjaerg Svejgaard syndrome|X-linked intellectual disability - seizures - psoriasis|mental retardation and psoriasis											SCTID:719810000|MESH:C536978|Orphanet:3052|ICD10:Q87.8|OMIM:309480|GARD:0005238																		owl:Class
MONDO:0044872	biolink:NamedThing	dysautonomia	An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.	mondoexuq1wtf	dysautonomia											NCIT:C53439																		owl:Class
MONDO:0020363	biolink:NamedThing	honey-droplet corneal dystrophy		mondoexuq1wtf												Orphanet:98958|ICD10:H18.5|UMLS:CN207218																		owl:Class
MONDO:0008557	biolink:NamedThing	Paris-Trousseau thrombocytopenia	Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.	mondoexuq1wtf	thrombocytopenia Paris-Trousseau type|thrombocytopenia, Paris-TROUSSEAU type|TCPT|chromosome 11q23 deletion syndrome|Paris-Trousseau syndrome											UMLS:C1956093|UMLS:C1861178|GARD:0004224|OMIM:188025|ICD10:D69.4|Orphanet:851														https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia				owl:Class
MONDO:0003039	biolink:NamedThing	nominal aphasia	Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.	mondoexuq1wtf	anomic aphasia|anomic aphasia (finding)|anomia											MESH:D000849|DOID:4541																		owl:Class
MONDO:0021977	biolink:NamedThing	basaloid follicular hamartoma	A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.	mondoexuq1wtf	basal cell nevus with comedones|basaloid follicular hamartoma											SCTID:254705003|UMLS:C0474964|NCIT:C4749|GARD:0002354|ICD9:706.1														https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma				owl:Class
MONDO:0011491	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 7		mondoexuq1wtf	EIG7|myoclonic epilepsy, juvenile, 2|epilepsy, idiopathic generalized, susceptibility to, 7											DOID:0111321|OMIM:604827																		owl:Class
MONDO:0006754	biolink:NamedThing	esophageal diverticulosis	A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.	mondoexuq1wtf												UMLS:C0917875|DOID:13185|MESH:D045723|EFO:1000930																		owl:Class
MONDO:0013758	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate E	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.	mondoexuq1wtf	Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease, dominant Intermediate type E|Charcot-Marie-Tooth disease-nephropathy syndrome|CMTDIE|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease dominant intermediate type E|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis					Not in the OMIM series.						OMIM:614455|UMLS:C4302667|ICD10:G60.0|Orphanet:93114|GARD:0012011|SCTID:722294004|UMLS:C3280845|DOID:0110205																		owl:Class
MONDO:0030010	biolink:NamedThing	hypogonadotropic hypogonadism 25 with anosmia		mondoexuq1wtf	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA|hypogonadotropic hypogonadism 25 with anosmia|HH25											OMIM:618841																		owl:Class
MONDO:0012245	biolink:NamedThing	developmental and epileptic encephalopathy, 3	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.	mondoexuq1wtf	EIEE3|epileptic encephalopathy, early infantile, 3|SLC25A22 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 3|early infantile epileptic encephalopathy caused by mutation in SLC25A22|DEE3											OMIM:609304|DOID:0080440																		owl:Class
MONDO:0022960	biolink:NamedThing	dermatocardioskeletal syndrome boronne type		mondoexuq1wtf												GARD:0001812														https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type				owl:Class
MONDO:0004325	biolink:NamedThing	testicular thecoma	A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.	mondoexuq1wtf	testis thecoma|thecoma of testis											NCIT:C39952|UMLS:C1515299|DOID:7676																		owl:Class
MONDO:0023820	biolink:NamedThing	Moebius axonal neuropathy hypogonadism		mondoexuq1wtf	Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type											GARD:0003698|MESH:C535806														https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism				owl:Class
MONDO:0019914	biolink:NamedThing	maternal uniparental disomy of chromosome 9	Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	mondoexuq1wtf	maternal uniparental disomy of chromosome type 9|UPD(9)mat											Orphanet:96183|SCTID:766240006|ICD10:Q99.8																		owl:Class
MONDO:0021115	biolink:NamedThing	luminal B breast carcinoma	A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.	mondoexuq1wtf	Luminal B|Luminal B estrogen receptor positive subtype of breast carcinoma|Luminal B subtype of breast carcinoma|Luminal B breast cancer|Luminal B breast carcinoma											NCIT:C53555|UMLS:C3642346																		owl:Class
MONDO:0004990	biolink:NamedThing	breast tumor luminal A or B	Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.	mondoexuq1wtf	luminal breast cancer|luminal breast carcinoma|breast tumor luminal											EFO:0000306|DOID:0060548																		owl:Class
MONDO:0006128	biolink:NamedThing	central nervous system anaplastic large cell lymphoma	An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.	mondoexuq1wtf	anaplastic central nervous system large cell lymphoma|anaplastic large cell lymphoma of the central nervous system|primary CNS anaplastic large cell lymphoma|central nervous system anaplastic large cell lymphoma|anaplastic CNS large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|anaplastic large cell lymphoma of central nervous system|anaplastic large cell lymphoma of the CNS|anaplastic large cell lymphoma of CNS											EFO:1000156|UMLS:C1335476|NCIT:C5322																		owl:Class
MONDO:0008953	biolink:NamedThing	peroxisome biogenesis disorder 1A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder, complementation group 1|Cerebrohepatorenal syndrome|Zs|peroxisome biogenesis disorder, complementation group E|PBD1A|peroxisome biogenesis disorder 1A (Zellweger)											DOID:0080476|OMIM:214100														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100259	biolink:NamedThing	peroxisome biogenesis disorder due to PEX1 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX1 defect|PEX1 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0016684	biolink:NamedThing	anaplastic astrocytoma	Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.	mondoexuq1wtf	astrocytoma, anaplastic, malignant|anaplastic astrocytoma|grade III astrocytoma|grade III astrocytic tumor|malignant astrocytoma|grade III astrocytic neoplasm											MedDRA:10002224|ICDO:9401/3|DOID:3078|EFO:0002499|GARD:0005860|ICD10:C71.9|ONCOTREE:AASTR|Orphanet:251589|MedDRA:10060971|UMLS:C0334579|NCIT:C9477																		owl:Class
MONDO:0002660	biolink:NamedThing	blepharochalasis	An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.	mondoexuq1wtf	blepharochalasis|blepharochalasis (disease)		blepharochalasis (disease)									ICD9:374.34|DOID:348|UMLS:C0005742|ICD10:H02.3|COHD:375551|HP:0010749|SCTID:47704002																		owl:Class
MONDO:0009644	biolink:NamedThing	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B		mondoexuq1wtf	molybdenum cofactor deficiency, complementation group type B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency, complementation group B|MOCODB|molybdenum cofactor deficiency complementation group B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|MOCOD type B											Orphanet:308393|OMIM:252160|ICD10:E72.1|PMID:10053004|MESH:C565373|DOID:0111163|UMLS:C1854989																		owl:Class
MONDO:0013393	biolink:NamedThing	distal 7q11.23 microdeletion syndrome	Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	mondoexuq1wtf	distal del(7)(q11.23)|distal chromosome 7Q11.23 deletion syndrome|distal monosomy 7q11.23|chromosome 7q11.23 deletion syndrome, distal, 1.2-MB											Orphanet:254351|ICD10:Q93.5|OMIM:613729|UMLS:C3150999																		owl:Class
MONDO:0004008	biolink:NamedThing	flat ductal epithelial atypia	A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.	mondoexuq1wtf	flat ductal epithelial atypia|DIN 1A|FEA|ductal intraepithelial neoplasia, grade 1A|clinging carcinoma|flat ductal epithelial atypia of the breast|flat epithelial atypia|flat epithelial atypia of the breast											NCIT:C36086|DOID:6841|UMLS:C1333620																		owl:Class
MONDO:0017332	biolink:NamedThing	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome		mondoexuq1wtf	pash syndrome											Orphanet:289478|EFO:0009009|UMLS:CN202977																		owl:Class
MONDO:0010315	biolink:NamedThing	T-B+ severe combined immunodeficiency due to gamma chain deficiency	Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	mondoexuq1wtf	T-B+ SCID due to gamma chain deficiency|severe combined immunodeficiency T- B+, X-linked|T-B+ severe combined immunodeficiency due to gamma chain deficiency|SCIDX1|severe combined immunodeficiency, X-linked|SCIDX|T-B+ severe combined immunodeficiency, X-linked|immunodeficiency 4|thymic epithelial hypoplasia|severe combined immunodeficiency T- B+ due to gamma chain deficiency|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|X-SCID|XSCID|X-linked severe combined immunodeficiency|SCID, X-linked|SCID-X1|X-linked SCID											NCIT:C4682|GARD:0005618|DOID:0060013|OMIM:300400|EFO:0005555|SCTID:203592006|ICD10:D81.2|Orphanet:276																		owl:Class
MONDO:0009434	biolink:NamedThing	hypoproteinemia, hypercatabolic		mondoexuq1wtf	B2M deficiency|immunodeficiency 43|Beta-2-microglobulin deficiency|hypoproteinemia, hypercatabolic|IMD43											OMIM:241600|UMLS:C1855796|MESH:C565476																		owl:Class
MONDO:0021953	biolink:NamedThing	tuberculous fibrosis of lung	Scarring of the lung parenchyma caused by pulmonary tuberculosis.	mondoexuq1wtf	tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung|Tuberculous fibrosis of lung											NCIT:C35088|ICD9:011.43|ICD9:011.40|SCTID:90117007|ICD9:011.42|ICD9:011.41|UMLS:C0041336|ICD9:011.46|ICD9:011.44																		owl:Class
MONDO:0015967	biolink:NamedThing	monogenic diabetes	Rare genetic diabetes mellitus.	mondoexuq1wtf	rare genetic diabetes mellitus											Orphanet:183625														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0016270	biolink:NamedThing	low-grade neuroendocrine tumor of the corpus uteri	Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.	mondoexuq1wtf	well-differentiated neuroendocrine neoplasm of the endometrium|low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine tumor of the corpus uteri|well-differentiated neuroendocrine tumor of the endometrium											UMLS:CN201059|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.0|Orphanet:213736|ICD10:C54.1																		owl:Class
MONDO:0009121	biolink:NamedThing	von Voss-Cherstvoy syndrome	Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	mondoexuq1wtf	von Voss-Cherstvoy syndrome|DK phocomelia syndrome|phocomelia, thrombocytopenia, encephalocele, urogenital malformations|Von Voss Cherstvoy syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome											OMIM:223340|ICD10:Q87.8|Orphanet:3439|UMLS:C1857226|MESH:C565618|SCTID:719021005|GARD:0001894																		owl:Class
MONDO:0009746	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 4	Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.	mondoexuq1wtf	hereditary sensory neuropathy type IV|hereditary sensory and autonomic neuropathy 4|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|congenital insensitivity to pain with anhidrosis|HSNAN4|familial dysautonomia, type 2|insensitivity to pain, congenital, with anhidrosis|congenital insensitivity to pain-anhidrosis syndrome|CIP-anhidrosis syndrome|hereditary sensory and autonomic neuropathy type IV|CIPA|neuropathy, congenital sensory, with anhidrosis|hereditary sensory neuropathy type 4|HSAN 4|HSAN4|HSAN IV|NTRK1 hereditary sensory and autonomic neuropathy											SCTID:62985007|PMID:8696348|NCIT:C118633|DOID:0070146|OMIM:256800|GARD:3006|GARD:0003006|UMLS:C0020074|PMID:14272277|Orphanet:642|ICD10:G60.8																		owl:Class
MONDO:0024563	biolink:NamedThing	herpes simplex encephalitis, susceptibility to, 1	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene.	mondoexuq1wtf	encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1|encephalopathy, acute, infection-induced, susceptibility to, 1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|IIAE1|herpes simplex encephalitis caused by mutation in UNC93B1|herpes simplex encephalitis, susceptibility to, 1|UNC93B1 herpes simplex encephalitis											OMIM:610551																		owl:Class
MONDO:0006278	biolink:NamedThing	lung papilloma	A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.	mondoexuq1wtf	papilloma of the respiratory tract|lung papilloma|respiratory tract papilloma|papilloma of respiratory tract											UMLS:C0281373|NCIT:C8295|EFO:1000335																		owl:Class
MONDO:0016337	biolink:NamedThing	syndrome associated with dilated cardiomyopathy		mondoexuq1wtf												UMLS:CN201167|Orphanet:217619														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0004392	biolink:NamedThing	intracranial extraskeletal myxoid chondrosarcoma	An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.	mondoexuq1wtf	intracranial chondrosarcoma|intracranial extraskeletal myxoid chondrosarcoma											NCIT:C5462|UMLS:C1334238|DOID:7903																		owl:Class
MONDO:0032879	biolink:NamedThing	megabladder, congenital		mondoexuq1wtf	MGBL|MEGABLADDER, CONGENITAL											OMIM:618719																		owl:Class
MONDO:0007105	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.	mondoexuq1wtf	C9ORF72 frontotemporal dementia with motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|FTDALS1|FTDMND|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|ALSFTD|frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia and/or motor neuron disease|C9orf72 frontotemporal dementia with motor neuron disease											DOID:0060213|UMLS:C1862937|OMIM:105550																		owl:Class
MONDO:0010149	biolink:NamedThing	transcobalamin II deficiency	Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.	mondoexuq1wtf	transcobalamin II deficiency|Tcn2 deficiency|transcobalamin 2 deficiency|TCN2 deficiency|TC 2 deficiency|inherited deficiency of transcobalamin|transcobalamin deficiency											DOID:0050818|UMLS:C0342701|GARD:0012338|ICD10:D51.2|SCTID:237934001|Orphanet:859|OMIM:275350|NCIT:C142806																		owl:Class
MONDO:0013806	biolink:NamedThing	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome		mondoexuq1wtf	cutaneous telangiectasia and cancer syndrome, familial|telangiectasia, cutaneous, and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|FCTCS											UMLS:C3281203|Orphanet:313846|OMIM:614564																		owl:Class
MONDO:0003735	biolink:NamedThing	central nervous system immature teratoma	A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)	mondoexuq1wtf	immature teratoma of CNS|immature teratoma of the CNS|central nervous system immature teratoma|immature teratoma of the central nervous system|CNS immature teratoma|immature teratoma|immature teratoma of central nervous system											ONCOTREE:BIMT|UMLS:C1332883|NCIT:C7014|DOID:6019																		owl:Class
MONDO:0020583	biolink:NamedThing	chromosome 17 abnormality	An irregularity in the structure of chromosome 17.	mondoexuq1wtf	chromosome 17 abnormality											NCIT:C129438																		owl:Class
MONDO:0013361	biolink:NamedThing	congenital prothrombin deficiency	Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.	mondoexuq1wtf	hypoprothrombinemia|prothrombin deficiency, congenital|factor II deficiency|hereditary prothrombin deficiency|prothrombin deficiency|factor 2 deficiency|congenital factor II deficiency|Dysprothrombinemia											GARD:0002235|ICD10:D68.2|MESH:D007020|UMLS:C0020640|NCIT:C131737|ICD9:286.3|DOID:2235|SCTID:73975000|Orphanet:325|OMIM:613679														https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency				owl:Class
MONDO:0010575	biolink:NamedThing	deafness-hypogonadism syndrome	This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.	mondoexuq1wtf	DHS|deafness-hypogonadism syndrome|deafness hypogonadism syndrome											MESH:C564435|GARD:0001691|OMIM:304350|Orphanet:90646														https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome				owl:Class
MONDO:0013751	biolink:NamedThing	cutis laxa, autosomal dominant 2	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.	mondoexuq1wtf	autosomal dominant cutis laxa 2|cutis laxa, autosomal dominant 2|ADCL2|cutis laxa, autosomal dominant type 2|FBLN5 autosomal dominant cutis laxa|autosomal dominant cutis laxa caused by mutation in FBLN5											UMLS:C3280794|OMIM:614434																		owl:Class
MONDO:0009150	biolink:NamedThing	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.	mondoexuq1wtf	ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia|HEDH syndrome|another syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism											ICD10:Q82.4|MESH:C565604|SCTID:239050000|Orphanet:1882|OMIM:225050|GARD:0002049														https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia				owl:Class
MONDO:0009513	biolink:NamedThing	laryngo-onycho-cutaneous syndrome	LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.	mondoexuq1wtf	laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|laryngo-onycho-cutaneous syndrome|logic syndrome|LOCS|LARYNGOONYCHOCUTANEOUS syndrome|Shabbir syndrome|LOC syndrome											UMLS:C1328355|Orphanet:2407|OMIM:245660|ICD10:Q81.8|SCTID:722675000|GARD:0000368|MESH:C537032																		owl:Class
MONDO:0020752	biolink:NamedThing	EJM1		mondoexuq1wtf						Editor note: see https://github.com/monarch-initiative/mondo/issues/1348						OMIM:254770																		owl:Class
MONDO:0004658	biolink:NamedThing	breast carcinoma in situ	A in situ carcinoma that involves the breast.	mondoexuq1wtf	breast in situ carcinoma|breast carcinoma in situ|in situ breast cancer|non-invasive carcinoma of the breast|carcinoma in situ of breast|carcinoma in situ of the breast|stage 0 breast cancer aJCC v6 and v7|stage 0 carcinoma of breast|non-infiltrating carcinoma of breast|stage 0 breast cancer aJCC v6|non-invasive breast carcinoma|breast cancer stage 0|non-infiltrating carcinoma of the breast|stage 0 breast cancer|stage 0 breast carcinoma in situ|stage 0 breast cancer aJCC v7|non-infiltrating breast carcinoma|non-invasive carcinoma of breast|stage 0 breast carcinoma|breast cancer in situ|stage 0 carcinoma of the breast											NCIT:C3641|DOID:8791|UMLS:C0154084|ICD10:D05.9|SCTID:189336000|ICD10:D05|ICD9:233.0|COHD:81250																		owl:Class
MONDO:0010474	biolink:NamedThing	linear skin defects with multiple congenital anomalies 2	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.	mondoexuq1wtf	linear skin defects with multiple congenital anomalies type 2|LSDMCA2|linear skin defects with multiple congenital anomalies 2|microphthalmia with linear skin defects syndrome caused by mutation in COX7B|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|COX7B microphthalmia with linear skin defects syndrome											UMLS:C3550921|OMIM:300887																		owl:Class
MONDO:0011734	biolink:NamedThing	Cardioneuromyopathy with hyaline masses and nemaline rods		mondoexuq1wtf	Cardioneuromyopathy with hyaline masses and nemaline rods											MESH:C564655|UMLS:C1847387|OMIM:606842																		owl:Class
MONDO:0011358	biolink:NamedThing	blue nevi, familial multiple		mondoexuq1wtf	blue nevi, familial multiple											OMIM:603670|MESH:C566346|UMLS:C1863617																		owl:Class
MONDO:0012608	biolink:NamedThing	autosomal recessive lower motor neuron disease with childhood onset	Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.	mondoexuq1wtf	spinal muscular atrophy, distal, autosomal recessive, 4|DSMA4|dSMA4|distal spinal muscular atrophy type 4|spinal muscular atrophy, distal, autosomal recessive, type 4|autosomal recessive distal spinal muscular atrophy type 4											OMIM:611067|MESH:C567023|ICD10:G12.2|DOID:0111213|UMLS:C1970211|Orphanet:206580																		owl:Class
MONDO:0004019	biolink:NamedThing	oxyphilic endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.	mondoexuq1wtf	oxyphilic endometrial endometrioid adenocarcinoma											NCIT:C27849|UMLS:C1518768|DOID:6865																		owl:Class
MONDO:0016867	biolink:NamedThing	partial deletion of chromosome 2		mondoexuq1wtf	partial deletion of chromosome type 2|partial monosomy of chromosome 2											ICD10:Q93.5|Orphanet:261771																		owl:Class
MONDO:0006220	biolink:NamedThing	gallbladder squamous cell carcinoma	A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.	mondoexuq1wtf	squamous cell carcinoma of gallbladder|gallbladder squamous cell carcinoma|squamous cell gallbladder carcinoma|gallbladder squamous cell cancer|epidermoid gallbladder carcinoma|gall bladder squamous cell carcinoma|epidermoid carcinoma of gallbladder|epidermoid carcinoma of the gallbladder|squamous cell carcinoma of the gallbladder											NCIT:C9170|DOID:5535|UMLS:C0279658|EFO:1000267																		owl:Class
MONDO:0003545	biolink:NamedThing	intradural extramedullary spinal canal neoplasm	A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.	mondoexuq1wtf	intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal canal tumors|intradural extramedullary spinal neoplasms|spinal canal intradural extramedullary neoplasm|intradural extramedullary tumor of spinal canal|intradural extramedullary spinal canal neoplasm|intradural extramedullary neoplasm of spinal canal|intradural extramedullary spinal tumors|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal tumor											NCIT:C5135|DOID:5615|UMLS:C1334255																		owl:Class
MONDO:0014285	biolink:NamedThing	congenital dyserythropoietic anemia type type 1B		mondoexuq1wtf	anemia, congenital dyserythropoietic, type IB|CDAN1B|CDA, type IB											OMIM:615631|UMLS:C3810185|DOID:0111397																		owl:Class
MONDO:0020337	biolink:NamedThing	congenital dyserythropoietic anemia type 1	Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.	mondoexuq1wtf	anemia, dyserythropoietic, congenital type 1|CDA type 1|type I congenital dyserythropoietic anemia|dyserythropoietic anemia, congenital type 1|CDA I|congenital dyserythropoietic anemia type 1|CDA type I											SCTID:59548005|GARD:0002000|ICD10:D64.4|DOID:0111396|Orphanet:98869																		owl:Class
MONDO:0014790	biolink:NamedThing	TMEM199-CDG		mondoexuq1wtf	CDG syndrome type IIp|CDG2P|carbohydrate deficient glycoprotein syndrome type IIp|congenital disorder of glycosylation type IIp|congenital disorder of glycosylation, type IIp|CDG IIp|congenital disorder of glycosylation type 2p|CDG-IIp											Orphanet:466703|OMIM:616829|UMLS:C4225190|DOID:0070268																		owl:Class
MONDO:0032679	biolink:NamedThing	combined oxidative phosphorylation deficiency 37		mondoexuq1wtf	COXPD37|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37											DOID:0111499|OMIM:618329																		owl:Class
MONDO:0001061	biolink:NamedThing	pylorus cancer	A malignant neoplasm involving the pylorus.	mondoexuq1wtf	malignant neoplasm of pylorus|malignant neoplasm of pylorus of stomach|pylorus cancer|Ca pylorus - stomach|malignant neoplasm of Prepylorus|malignant tumor of pylorus|malignant pylorus neoplasm|cancer of pylorus											DOID:10544|UMLS:C0153418|ICD9:151.1|ICD10:C16.4|SCTID:187736009																		owl:Class
MONDO:0021243	biolink:NamedThing	parotid gland neoplasm	A neoplasm (disease) that involves the parotid gland.	mondoexuq1wtf	parotid gland tumor|tumor of the parotid|parotid tumor|neoplasm of the parotid|parotid neoplasm|neoplasm of parotid gland|neoplasm of parotid|tumor of parotid|parotid gland neoplasm (disease)|tumor of parotid gland|tumor of the parotid gland|neoplasm of the parotid gland											SCTID:126788000|NCIT:C3314|EFO:0003873																		owl:Class
MONDO:0010541	biolink:NamedThing	X-linked calvarial hyperostosis		mondoexuq1wtf	isolated hyperostosis of the calvarium|calvarial hyperostosis											MESH:C537963|ICD10:M85.2|OMIM:302030|Orphanet:391327|GARD:0001058																		owl:Class
MONDO:0026782	biolink:NamedThing	chondrodysplasia punctata 2, X-linked dominant		mondoexuq1wtf	Happle Syndrome|CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT|CDPXD|Conradi-Hunermann Syndrome|Conradi-Hunermann-Happle Syndrome|CDPX2											OMIM:302960																		owl:Class
MONDO:0007467	biolink:NamedThing	DNA, low-repetitive sequences of		mondoexuq1wtf	DNA, low-repetitive sequences of|repetitive sequence DNA					Editor note: TODO check						OMIM:126390																		owl:Class
MONDO:0003258	biolink:NamedThing	hobnail hemangioma	A hemangioma characterized by the presence of hobnail endothelial cells.	mondoexuq1wtf	hobnail hemangioma|Targetoid Hemosiderotic hemangioma											NCIT:C27506|UMLS:C0346076|SCTID:254790003|DOID:505																		owl:Class
MONDO:0024302	biolink:NamedThing	internal hirudiniasis	A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.	mondoexuq1wtf												ICD10:B83.4|UMLS:C0348999|SCTID:187227006																		owl:Class
MONDO:0005021	biolink:NamedThing	dilated cardiomyopathy	Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.	mondoexuq1wtf	congestive cardiomyopathy|idiopathic dilation cardiomyopathy|familial dilated cardiomyopathy|primary dilated cardiomyopathy											SCTID:195021004|MESH:D002311|Orphanet:217604|ICD10:I42.0|DOID:12930|UMLS:C0007193|MP:0002795|ICD9:425.4|KEGG:05414|COHD:4163710|MedDRA:10056370|NCIT:C84673|EFO:0000407|HP:0001644																		owl:Class
MONDO:0013519	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 2	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.	mondoexuq1wtf	dyskeratosis congenita, autosomal recessive type 2|DKCB2|autosomal recessive dyskeratosis congenita 2|dyskeratosis congenita, autosomal recessive 2											OMIM:613987|DOID:0070017|UMLS:C3151441																		owl:Class
MONDO:0016863	biolink:NamedThing	Okihiro syndrome due to 20q13 microdeletion		mondoexuq1wtf	Okihiro syndrome due to monosomy 20q13|Duane-radial ray syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)											Orphanet:261638|ICD10:Q87.8|UMLS:CN202208																		owl:Class
MONDO:0003951	biolink:NamedThing	scrotal hemangioma	A hemangioma arising from the skin of the scrotum.	mondoexuq1wtf	scrotal angioma|scrotum hemangioma|angioma of scrotum|hemangioma of scrotum|angioma of the scrotum|scrotal hemangioma|hemangioma of the scrotum											DOID:663|UMLS:C1335936|NCIT:C6387																		owl:Class
MONDO:0020332	biolink:NamedThing	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).	mondoexuq1wtf	systemic mastocytosis with an associated hematological neoplasm|SMAHN|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|SM-AHNMD|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|SM-AHN|systemic mastocytosis with associated hematologic neoplasm											ONCOTREE:SMAHN|ICDO:9741/3|SCTID:397015000|DOID:4797|Orphanet:98849|NCIT:C9284|EFO:1000559|ICD10:C96.2																		owl:Class
MONDO:0000871	biolink:NamedThing	T-cell childhood acute lymphocytic leukemia	An acute lymphoblastic leukemia of T-cell origin occurring in children.	mondoexuq1wtf	T-cell pediatric acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell childhood acute lymphoblastic leukemia|T-cell pediatric acute lymphocytic leukemia|childhood T-cell acute lymphoblastic leukemia|T-cell childhood ALL|T-cell pediatric ALL|childhood precursor T-lymphoblastic leukemia|T-cell childhood acute lymphocytic leukemia|T acute lymphoblastic leukemia|childhood T-ALL											UMLS:C0279583|DOID:0080145|EFO:1001947|NCIT:C7953																		owl:Class
MONDO:0004403	biolink:NamedThing	childhood precursor T-lymphoblastic lymphoma/leukemia	A T lymphoblastic leukemia/lymphoma that occurs during childhood.	mondoexuq1wtf	childhood precursor T-lymphoblastic lymphoma/leukemia|pediatric precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma											UMLS:C1332997|NCIT:C5640|DOID:7933																		owl:Class
MONDO:0004323	biolink:NamedThing	muscular atrophy	The loss of muscle tissue due to inactivity or disease.	mondoexuq1wtf	muscle wasting|wasting - muscle|amyotrophia											SCTID:88092000|DOID:767|MESH:D009133|ICD9:728.2																		owl:Class
MONDO:0013247	biolink:NamedThing	Fanconi renotubular syndrome 2	Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.	mondoexuq1wtf	SLC34A1 Fanconi syndrome|Fanconi renotubular syndrome 2|Fanconi syndrome caused by mutation in SLC34A1|FRTS2|Fanconi renotubular syndrome type 2											OMIM:613388|UMLS:C3150652																		owl:Class
MONDO:0007600	biolink:NamedThing	primary Fanconi syndrome	Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.	mondoexuq1wtf	primary Fanconi renotubular syndrome|Fanconi renotubular syndrome 1|FRTS1											Orphanet:3337|NCIT:C123229|GARD:0009118|ICD10:E72.0														https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome				owl:Class
MONDO:0019326	biolink:NamedThing	phakomatosis cesiomarmorata		mondoexuq1wtf	phakomatosis cesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis caesiomarmorata											UMLS:CN205985|ICD10:Q85.8|ICD9:759.6|SCTID:703286006|Orphanet:79484																		owl:Class
MONDO:0016087	biolink:NamedThing	progressive non-infectious anterior vertebral fusion	Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.	mondoexuq1wtf	Copenhagen syndrome											UMLS:C4304839|ICD10:Q87.8|SCTID:719268008|UMLS:CN200850|Orphanet:2062																		owl:Class
MONDO:0010761	biolink:NamedThing	retinitis pigmentosa Y-linked	Y-linked form of retinitis pigmentosa.	mondoexuq1wtf	retinitis pigmentosa, Y-linked|Y-linked retinitis pigmentosa|RPY											DOID:0110418|OMIM:400004|MESH:C564035|ICD10:H35.5|UMLS:C1839079																		owl:Class
MONDO:0010369	biolink:NamedThing	nystagmus 5, congenital, X-linked		mondoexuq1wtf	NYS5|NYSTAGMUS 5, congenital, X-linked											UMLS:C1845116|OMIM:300589																		owl:Class
MONDO:0004558	biolink:NamedThing	thyroid gland macrofollicular adenoma	A thyroid gland adenoma composed of large size follicles.	mondoexuq1wtf	macrofollicular adenoma (morphologic abnormality)|colloid adenoma|macrofollicular adenoma											UMLS:C0334329|NCIT:C4161|DOID:8419|ICDO:8334/0																		owl:Class
MONDO:0001566	biolink:NamedThing	hypercalcemia disease	Abnormally high concentration of calcium in the peripheral blood.	mondoexuq1wtf	hypercalcemia											SCTID:66931009|HP:0003072|ICD10:E83.52|MESH:D006934|COHD:435511|ICD9:275.42|DOID:12678|NCIT:C3112|UMLS:C0020437																		owl:Class
MONDO:0002171	biolink:NamedThing	giant cell tumor	A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.	mondoexuq1wtf	giant cell tumor NOS (morphologic abnormality)|giant cell neoplasm|giant cell tumor|giant cell tumor (morphologic abnormality)|giant cell tumors (morphologic abnormality)|tumor of the giant cell|giant cell tumor (qualifier value)|giant cell tumors					editor note: consider separate term for neoplasm (C3055 in NCIT)						MESH:D005870|DOID:200|NCIT:C3055|SCTID:443790001|UMLS:C0017525																		owl:Class
MONDO:0003618	biolink:NamedThing	pyosalpinx	The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.	mondoexuq1wtf	pyosalpingitis											UMLS:C0034220|NCIT:C34968|SCTID:397810006|ICD10:N70|DOID:5732																		owl:Class
MONDO:0000458	biolink:NamedThing	proneural glioblastoma	A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.	mondoexuq1wtf	glioblastoma proneural subtype|proneural glioblastoma											NCIT:C111692|DOID:0050804|UMLS:C3828464																		owl:Class
MONDO:0032819	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 7		mondoexuq1wtf	CHNG7|Thyrotropin-Releasing Hormone Resistance, Generalized|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7											OMIM:618573																		owl:Class
MONDO:0054697	biolink:NamedThing	immunodeficiency 11b with atopic dermatitis		mondoexuq1wtf	atopic dermatitis, elevated IgE, and eosinophilia|IMD11B|immunodeficiency 11B with ATOPIC dermatitis											OMIM:617638|UMLS:C4539957																		owl:Class
MONDO:0013425	biolink:NamedThing	retinitis pigmentosa 20	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.	mondoexuq1wtf	retinitis pigmentosa 20|RP 20|RP20|retinitis pigmentosa type 20|RPE65 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RPE65											GARD:0010404|ICD10:H35.5|HGNC:10294|OMIM:613794|MESH:C566718|DOID:0110353|UMLS:C3151086														https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20				owl:Class
MONDO:0044343	biolink:NamedThing	cervical disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the cervical spine.	mondoexuq1wtf	degeneration of cervical intervertebral disc|cervical Disc Degeneration|cervical region of vertebral column intervertebral disc degenerative disorder|cervical Disc degenerative disease|intervertebral disc degenerative disorder of cervical region of vertebral column|cervical Disc degenerative disorder											SCTID:69195002|UMLS:C0158262|NCIT:C27156|UMLS:C0410606																		owl:Class
MONDO:0017529	biolink:NamedThing	polysyndactyly, unilateral		mondoexuq1wtf	preaxial polydactyly type 4, unilateral											ICD10:Q70.4|UMLS:CN203260|Orphanet:295159																		owl:Class
MONDO:0060774	biolink:NamedThing	vaginal fibroepithelial polyp	A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.	mondoexuq1wtf	fibroepithelial polyp of the vagina|vaginal fibroepithelial polyp|vaginal fibroepithelial stromal polyp|fibroepithelial polyp of vagina											UMLS:C0750071|NCIT:C4948																		owl:Class
MONDO:0007831	biolink:NamedThing	insect Stings, hypersensitivity to		mondoexuq1wtf	insect Stings, hypersensitivity to											OMIM:147540																		owl:Class
MONDO:0013788	biolink:NamedThing	Usher syndrome type 3B	Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.	mondoexuq1wtf	USH3B|Usher syndrome caused by mutation in HARS|USHER syndrome, type IIIB|Usher syndrome, type 3B|HARS Usher syndrome|Usher syndrome type IIIB											DOID:0110842|OMIM:614504|UMLS:C3281066|ICD10:H35.5																		owl:Class
MONDO:0008811	biolink:NamedThing	XK aprosencephaly	XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	mondoexuq1wtf	Garcia-Lurie syndrome|aprosencephaly-atelencephaly syndrome|atelencephaly|XK aprosencephaly syndrome|aprosencephaly syndrome|XK-aprosencephaly|Xk syndrome|XK-aprosencephaly syndrome											GARD:0000424|MESH:C536767|UMLS:C0795952|Orphanet:3469|ICD10:Q04.3|OMIM:207770|SCTID:277921008														https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly				owl:Class
MONDO:0015179	biolink:NamedThing	intestinal disease due to vitamin absorption anomaly		mondoexuq1wtf						Editor note: groups different mechanisms:						Orphanet:104004|UMLS:CN197521																		owl:Class
MONDO:0008134	biolink:NamedThing	autosomal dominant optic atrophy, classic form	Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.	mondoexuq1wtf	optic atrophy, juvenile|Kjer optic atrophy|optic atrophy, Kjer type|Kjer-type optic atrophy|optic atrophy type 1|optic atrophy 1|autosomal dominant optic atrophy, Kjer type|OPA1|OAK											UMLS:CN207069|GARD:0009890|ICD10:H47.2|DOID:0111441|Orphanet:98673|SCTID:717336005|OMIM:165500																		owl:Class
MONDO:0004431	biolink:NamedThing	hemarthrosis	Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.	mondoexuq1wtf	hemarthrosis of ankle and/or foot|hemarthrosis of upper arm|haemarthrosis of the pelvic region and thigh|hemarthrosis of shoulder|haemarthrosis of shoulder joint|hemarthrosis of shoulder region|hemarthrosis of the ankle and/or foot|hemarthrosis involving upper arm|hemarthrosis involving ankle and foot|hemarthrosis of the forearm|hemarthrosis involving hand|hemarthrosis involving forearm|hemarthrosis of the pelvic region and thigh|hemarthrosis of the upper arm|haemarthrosis of the ankle and foot|hemarthrosis involving lower leg|hemarthrosis of the lower leg|hemarthrosis of forearm|hemarthrosis involving pelvic region and thigh|hemarthrosis of lower leg|hemarthrosis involving shoulder region|hemarthrosis of hand|hemarthrosis of the ankle and foot|hemarthrosis of the hand|hemarthrosis of the shoulder region											ICD9:719.18|COHD:76784|MESH:D006395|EFO:1001344|ICD9:719.1|DOID:801|SCTID:81808003|ICD9:719.10|ICD10:M25.0|UMLS:C0158159																		owl:Class
MONDO:0018892	biolink:NamedThing	Wyburn-Mason syndrome	Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.	mondoexuq1wtf	bonnet-Decaume-Blanc syndrome|Wyburn Mason syndrome|CAMS2|Wyburn Mason's syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Cerebrofacial arteriovenous metameric syndrome type 2|bonnet-Dechaume-Blanc syndrome											MedDRA:10048661|ICD10:Q28.2|SCTID:6729006|MESH:C536752|UMLS:C0265321|Orphanet:53719|GARD:0007900																		owl:Class
MONDO:0042493	biolink:NamedThing	gastric non-hodgkin lymphoma	An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	mondoexuq1wtf	stomach non-Hodgkin lymphoma|non-Hodgkins gastric lymphoma|non-Hodgkin's lymphoma of the stomach|non-Hodgkin lymphoma of stomach|gastric non-Hodgkin lymphoma|lymphoma, gastric non Hodgkins type|primary gastric non-Hodgkin's lymphoma|stomach lymphoma, non-Hodgkins type|non-Hodgkin's lymphoma of stomach|gastric non-Hodgkin's lymphoma											UMLS:C1333784|NCIT:C27235|GARD:0000089|SCTID:448709005																		owl:Class
MONDO:0032596	biolink:NamedThing	myasthenic syndrome, congenital, 23, presynaptic		mondoexuq1wtf	MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC|CMS23											OMIM:618197																		owl:Class
MONDO:0002592	biolink:NamedThing	invasive malignant thymoma	A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.	mondoexuq1wtf	invasive malignant thymoma|malignant thymoma, invasive|infiltrating thymoma|thymoma malignant invasive											DOID:3283|NCIT:C7904|UMLS:C0278846																		owl:Class
MONDO:0023155	biolink:NamedThing	fibula aplasia complex brachydactyly		mondoexuq1wtf												GARD:0002329														https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly				owl:Class
MONDO:0013239	biolink:NamedThing	hereditary spastic paraplegia 41	Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	mondoexuq1wtf	hereditary spastic paraplegia type 41|autosomal dominant spastic paraplegia type 41|SPG41|spastic paraplegia 41, autosomal dominant|autosomal dominant spastic paraplegia 41											SCTID:763069002|DOID:0110793|OMIM:613364|ICD10:G11.4|Orphanet:320355|UMLS:CN203988																		owl:Class
MONDO:0011854	biolink:NamedThing	secretory diarrhea, myopathy, and deafness		mondoexuq1wtf	secretory diarrhea, myopathy, and deafness											MESH:C564382|OMIM:607540|UMLS:C1843757																		owl:Class
MONDO:0013907	biolink:NamedThing	bilateral generalized polymicrogyria	Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	PMGYS|MSSP|polymicrogyria with seizures|microcephaly, short stature, and polymicrogyria with or without seizures|bilateral generalised polymicrogyria											ICD10:Q04.3|GARD:0010786|Orphanet:208447|OMIM:614833|UMLS:C3553831														https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria				owl:Class
MONDO:0018764	biolink:NamedThing	microcephalic primordial dwarfism due to RTTN deficiency	Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.	mondoexuq1wtf												Orphanet:468631																		owl:Class
MONDO:0010916	biolink:NamedThing	polycystic kidney disease 3 with or without polycystic liver disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.	mondoexuq1wtf	polycystic kidney disease, adult, type 3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|polycystic kidney disease 3|polycystic kidney disease type 3|polycystic kidney disease 3 with or without polycystic liver disease|PKD3|Apkd3|GANAB autosomal dominant polycystic kidney disease|Pkd3|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease, adult, type III|polycystic kidney disease, type 3											UMLS:C3887964|OMIM:600666|DOID:0110860																		owl:Class
MONDO:0021465	biolink:NamedThing	benign neoplasm of appendix	A benign neoplasm that involves the vermiform appendix.	mondoexuq1wtf	benign appendix tumor|vermiform appendix benign neoplasm|benign appendix neoplasm|benign tumor of appendix|benign tumor of the appendix|benign neoplasm of the appendix											SCTID:91981009|UMLS:C0496860|ICD10:D12.1|NCIT:C4773																		owl:Class
MONDO:0014595	biolink:NamedThing	developmental and epileptic encephalopathy, 30	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.	mondoexuq1wtf	epileptic encephalopathy, early infantile, 30|early infantile epileptic encephalopathy caused by mutation in SIK1|DEE30|epileptic encephalopathy, early infantile, type 30|SIK1 early infantile epileptic encephalopathy|EIEE30											OMIM:616341|UMLS:C4225360|DOID:0080465																		owl:Class
MONDO:0016098	biolink:NamedThing	immune-mediated necrotizing myopathy	Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.	mondoexuq1wtf	immune myopathy with myocyte necrosis|NAM|autoimmune necrotizing myositis|IMNM|necrotizing autoimmune myopathy|anti-HMG-CoA myopathy|anti-SRP myopathy											ICD10:G72.4|SCTID:715863001|Orphanet:206569|GARD:0013307																		owl:Class
MONDO:0004662	biolink:NamedThing	heterophyiasis	An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	mondoexuq1wtf	Heterophyes infectious disease|infections, Heterophyes|Heterophyes infection											SCTID:22905009|ICD9:121.6|UMLS:C0152071|DOID:882|ICD10:B66.8|NCIT:C128389																		owl:Class
MONDO:0017080	biolink:NamedThing	occipital encephalocele		mondoexuq1wtf												SCTID:42376006|ICD10:Q01.2|Orphanet:268823																		owl:Class
MONDO:0016057	biolink:NamedThing	isolated encephalocele	Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.	mondoexuq1wtf	craniocele|encephalocele|bifid cranium|cranium bifidum											MedDRA:10014617|ICD10:Q01.0|ICD10:Q01.2|GARD:0006333|ICD10:Q01.8|ICD10:Q01.1|ICD10:Q01.9|Orphanet:199647																		owl:Class
MONDO:0016800	biolink:NamedThing	mitochondrial membrane transport disorder		mondoexuq1wtf												Orphanet:254827|UMLS:CN227001																		owl:Class
MONDO:0014901	biolink:NamedThing	tooth agenesis, selective, 8	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.	mondoexuq1wtf	tooth agenesis, selective, 8|WNT10B tooth agenesis|tooth agenesis, selective, type 8|STHAG8|tooth agenesis caused by mutation in WNT10B|tooth agenesis, selective, 8; STHAG8											UMLS:C4310730|OMIM:617073																		owl:Class
MONDO:0003786	biolink:NamedThing	childhood testicular choriocarcinoma	A choriocarcinoma that arises from the testis during childhood.	mondoexuq1wtf	childhood choriocarcinoma of testis|pediatric testicular choriocarcinoma|choriocarcinoma of testis of childhood|pediatric choriocarcinoma of testis|childhood choriocarcinoma of the testis|childhood testicular choriocarcinoma|pediatric choriocarcinoma of the testis											DOID:6160|UMLS:C1333006|NCIT:C6544																		owl:Class
MONDO:0010001	biolink:NamedThing	ectodermal dysplasia-blindness syndrome	Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.	mondoexuq1wtf	RODRIGUES blindness|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities											UMLS:C1849332|OMIM:268320|MESH:C535865|Orphanet:1806|GARD:0000293|ICD10:Q87.8																		owl:Class
MONDO:0002327	biolink:NamedThing	intracranial cavernous angioma	A cavernous hemangioma arising from the brain and meninges.	mondoexuq1wtf	intracranial cavernous hemangioma|intracranial cavernous angioma|intracranial cavernoma											SCTID:445513004|NCIT:C5432|DOID:2516|UMLS:C1334237																		owl:Class
MONDO:0016844	biolink:NamedThing	trisomy 20p	Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	mondoexuq1wtf	trisomy type 20p|dup(20p)|partial duplication of the short arm of chromosome 20|partial trisomy 20p|partial duplication of chromosome 20p|partial trisomy of chromosome 20p|chromosome 20p duplication|20p trisomy|Duplication 20p|Duplication of 20p|20p duplication|trisomy 20p|partial trisomy of the short arm of chromosome 20											MESH:C535371|SCTID:111311004|ICD9:758.5|ICD10:Q92.2|GARD:0005333|Orphanet:261318																		owl:Class
MONDO:0016938	biolink:NamedThing	partial trisomy of chromosome 20		mondoexuq1wtf	partial duplication of chromosome 20|partial trisomy of chromosome type 20											Orphanet:262692|UMLS:C4518509|SCTID:726360002																		owl:Class
MONDO:0044079	biolink:NamedThing	cardio-renal syndrome	A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.	mondoexuq1wtf	syndromes, cardiorenal|Reno Cardiac syndrome|cardiorenal syndrome|cardio-renal syndromes|cardio renal syndrome|syndromes, Renocardiac|syndrome, Reno-Cardiac|cardiorenal syndromes|Renocardiac syndrome|Reno-Cardiac syndromes|syndrome, Renocardiac|syndrome, cardio-renal|syndromes, Reno-Cardiac|syndrome, cardiorenal|syndromes, cardio-renal|Reno-Cardiac syndrome|Renocardiac syndromes											MESH:D059347|EFO:1001262|NCIT:C123225|SCTID:445236007|UMLS:C2242703																		owl:Class
MONDO:0013748	biolink:NamedThing	ventricular septal defect 2	Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.	mondoexuq1wtf	ventricular septal defect (disease) caused by mutation in CITED2|ventricular septal defect 2|VSD2|CITED2 ventricular septal defect (disease)|ventricular septal defect type 2											OMIM:614431																		owl:Class
MONDO:0001583	biolink:NamedThing	diabetic polyneuropathy		mondoexuq1wtf	diabetes mellitus with polyneuropathy|polyneuropathy in diabetes											SCTID:49455004|COHD:376112|ICD10:G63.2|DOID:12785|ICD9:357.2|UMLS:C0271680																		owl:Class
MONDO:0012428	biolink:NamedThing	kyphoscoliosis 1		mondoexuq1wtf	kyphoscoliosis 1|KYPSC1											OMIM:610170|MESH:C565711|UMLS:C1857795																		owl:Class
MONDO:0009119	biolink:NamedThing	diverticulosis, small-intestinal		mondoexuq1wtf	diverticulosis, small-intestinal											UMLS:C1857228|MESH:C565620|OMIM:223320																		owl:Class
MONDO:0014979	biolink:NamedThing	myoclonus, intractable, neonatal		mondoexuq1wtf	NEIMY|myoclonus, intractable, neonatal; NEIMY|myoclonus, intractable, neonatal											OMIM:617235|UMLS:C4310658																		owl:Class
MONDO:0032838	biolink:NamedThing	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES|NEDMABA											OMIM:618622																		owl:Class
MONDO:0022618	biolink:NamedThing	burning mouth syndrome type 3		mondoexuq1wtf	Psychiatric disorders coexisting with burning mouth syndrome|BMS-3|type 3 burning mouth syndrome											UMLS:C2931487|GARD:0008558|MESH:C537413														https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3				owl:Class
MONDO:0015391	biolink:NamedThing	nasopharyngeal teratoma	A teratoma that involves the nasopharynx.	mondoexuq1wtf	teratoma of the nasopharynx|nasopharynx teratoma											UMLS:C4531264|ICD10:D10.6|Orphanet:141107																		owl:Class
MONDO:0016036	biolink:NamedThing	Ledderhose disease	Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences.	mondoexuq1wtf	Lederhose disease|plantar fibromatosis											GARD:0006873|MedDRA:10035154|ICD10:M72.2|MESH:C537000|Orphanet:199251														https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease				owl:Class
MONDO:0017355	biolink:NamedThing	inborn disorder of proline metabolism	An acquired metabolic disease that is has its basis in the disruption of proline metabolic process.	mondoexuq1wtf	inborn proline metabolic process disorder|rare inborn error of proline metabolic process|inborn error of proline metabolic process|disorder of proline metabolism											UMLS:CN227118|Orphanet:289866|ICD10:E72.8																		owl:Class
MONDO:0017676	biolink:NamedThing	marginal papular palmoplantar keratoderma		mondoexuq1wtf	marginal papular palmoplantar hyperkeratosis											Orphanet:307995|ICD10:Q82.8																		owl:Class
MONDO:0007135	biolink:NamedThing	nonsyndromic congenital nail disorder 6		mondoexuq1wtf	anonychia/hyponychia and onychodystrophy|nail disorder, nonsyndromic congenital, 6|NDNC6|absent nails and dystrophic nails|onychodystrophy-anonychia|nonsyndromic congenital nail disorder type 6|anonychia, partial											OMIM:107000|GARD:0000710|DOID:0080084																		owl:Class
MONDO:0019211	biolink:NamedThing	isolated congenital anonychia	Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.	mondoexuq1wtf	congenital anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|isolated anonychia|nonsyndromic congenital nail disorder, 4											ICD10:Q84.3|Orphanet:79143|GARD:0012930																		owl:Class
MONDO:0001009	biolink:NamedThing	solitary cyst of breast	A single, fluid-filled cyst in the breast parenchyma.	mondoexuq1wtf	solitary cyst of the breast|solitary cyst of breast											SCTID:266578003|COHD:78473|ICD10:N60.09|DOID:10349|ICD9:610.0|ICD10:N60.0																		owl:Class
MONDO:0001011	biolink:NamedThing	breast cyst	A cystic lesion located in breast tissue.	mondoexuq1wtf	cyst of the breast											EFO:1000848|DOID:10350|MESH:D047688|SCTID:399294002|ICD10:N60.0																		owl:Class
MONDO:0015519	biolink:NamedThing	congenital or early infantile CACH syndrome		mondoexuq1wtf												Orphanet:157713|ICD10:E75.2																		owl:Class
MONDO:0017684	biolink:NamedThing	disorder of beta and omega amino acid metabolism		mondoexuq1wtf												Orphanet:308407|ICD9:270.8|SCTID:237940008|UMLS:C0342707																		owl:Class
MONDO:0018977	biolink:NamedThing	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.	mondoexuq1wtf	anti-MAG neuropathy|neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein											UMLS:C1736154|Orphanet:639|ICD10:G61.8																		owl:Class
MONDO:0001455	biolink:NamedThing	retinal lattice degeneration		mondoexuq1wtf	palisade degeneration of retina											DOID:12165|SCTID:3577000|ICD9:362.63|ICD10:H35.41|COHD:319016|UMLS:C0154856																		owl:Class
MONDO:0012283	biolink:NamedThing	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss		mondoexuq1wtf	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss											UMLS:C1836120|OMIM:609466|GARD:0010063|MESH:C536427														https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss				owl:Class
MONDO:0032919	biolink:NamedThing	intellectual developmental disorder 62		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER 62|Mental Retardation, Autosomal Dominant 62|MRD62											OMIM:618793																		owl:Class
MONDO:0012363	biolink:NamedThing	retinitis pigmentosa 32	A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.	mondoexuq1wtf	RP32|retinitis pigmentosa type 32|retinitis pigmentosa 32											MESH:C563689|DOID:0110355|OMIM:609913|GARD:0010395|ICD10:H35.5|UMLS:C1835927														https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32				owl:Class
MONDO:0017989	biolink:NamedThing	His bundle tachycardia	His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.	mondoexuq1wtf	JET|junctional ectopic tachycardia											MESH:D013613|SCTID:233901002|ICD10:I47.1|Orphanet:3283|UMLS:C0039235|ICD9:427.89|GARD:0002706|NCIT:C111646														https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia				owl:Class
MONDO:0024326	biolink:NamedThing	pleural adenomatoid tumor	A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.	mondoexuq1wtf	pleural adenomatoid tumor|benign mesothelioma of the pleura|pleural benign mesothelioma|pleura adenomatoid tumor|benign mesothelioma of pleura|pleural mesothelioma, benign											NCIT:C4499																		owl:Class
MONDO:0015644	biolink:NamedThing	audiogenic seizures	Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	mondoexuq1wtf												ICD10:G40.8|SCTID:765216006|UMLS:C0751791|Orphanet:166415																		owl:Class
MONDO:0016086	biolink:NamedThing	osteochondritis of tarsal/metatarsal bone	Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone	mondoexuq1wtf	juvenile osteochondrosis of foot|osteochondritis of tarsal/metatarsal bone|Osteochondrosis of the tarsal bone|Kohler disease|aseptic necrosis of the tarsal bone|Kohler's Osteochondrosis of the tarsal navicular|Kohler's disease of the tarsal navicular|Kohler's disease|navicular Osteochondrosis											GARD:0006842|UMLS:C0158444|Orphanet:2054|ICD9:732.5|DOID:11760|SCTID:203392007|ICD10:M93.2|UMLS:CN200840|COHD:435903														https://rarediseases.info.nih.gov/diseases/6842/kohler-disease				owl:Class
MONDO:0011086	biolink:NamedThing	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.	mondoexuq1wtf	severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive|SCID due to complete RAG1/2 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1-2 deficiency|SCID due to complete RAG1-2 deficiency											Orphanet:331206|DOID:0090013|GARD:0010339|MESH:C563311|ICD10:D81.1|UMLS:C1832322|OMIM:601457																		owl:Class
MONDO:0004372	biolink:NamedThing	chronic toxic polyneuropathy		mondoexuq1wtf	chronic toxic polyneuropathy											NCIT:C35603|UMLS:C1333048|DOID:7825																		owl:Class
MONDO:0003335	biolink:NamedThing	chronic polyneuropathy	Polyneuropathy that is persistent or long-standing in nature.	mondoexuq1wtf	polyneuropathy, chronic											DOID:5221|NCIT:C36071|UMLS:C1167650																		owl:Class
MONDO:0014282	biolink:NamedThing	hereditary spastic paraplegia 72	Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.	mondoexuq1wtf	hereditary spastic paraplegia type 72|spastic paraplegia 72, autosomal recessive|autosomal spastic paraplegia type 72|SPG72|spastic paraplegia 72, autosomal dominant|REEP2 pure hereditary spastic paraplegia|pure hereditary spastic paraplegia caused by mutation in REEP2					Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance						Orphanet:401849|UMLS:C3810160|OMIM:615625|DOID:0110817|ICD10:G11.4																		owl:Class
MONDO:0015149	biolink:NamedThing	pure hereditary spastic paraplegia		mondoexuq1wtf	uncomplicated hereditary spastic paraplegia|Pure HSP|Pure familial spastic paraplegia|uncomplicated familial spastic paraplegia|uncomplicated SPG|Pure SPG|uncomplicated HSP											ICD10:G11.4|SCTID:230260007|Orphanet:102012|UMLS:C0393555																		owl:Class
MONDO:0003373	biolink:NamedThing	kidney leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of kidney|renal leiomyosarcoma|kidney leiomyosarcoma|leiomyosarcoma of the kidney											UMLS:C1335743|DOID:5287|NCIT:C6183																		owl:Class
MONDO:0006222	biolink:NamedThing	gastric choriocarcinoma	A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.	mondoexuq1wtf	gastric choriocarcinoma											UMLS:C2987398|EFO:1000269|NCIT:C95749																		owl:Class
MONDO:0016260	biolink:NamedThing	uterine corpus rhabdomyosarcoma	A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.	mondoexuq1wtf	uterine corpus rhabdomyosarcoma|body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of body of uterus|rhabdomyosarcoma of the corpus uteri|body of uterus rhabdomyosarcoma											ICD10:C54.2|UMLS:C4288047|Orphanet:213615|NCIT:C127058																		owl:Class
MONDO:0016149	biolink:NamedThing	qualitative or quantitative defects of merosin		mondoexuq1wtf												Orphanet:207094																		owl:Class
MONDO:0022404	biolink:NamedThing	retinal ciliopathy due to mutation in usher gene		mondoexuq1wtf												Orphanet:156177																		owl:Class
MONDO:0007895	biolink:NamedThing	platyspondylic dysplasia, Torrance type		mondoexuq1wtf	PLSD-T|Platyspondylic lethal skeletal dysplasia, Luton type|Platyspondylic lethal skeletal dysplasia Torrance type|thanatophoric dysplasia, Torrance variant|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Torrance type|lethal short-limbed Platyspondylic dwarfism Torrance type|PLSDT|thanatophoric dysplasia, Luton variant|thanatophoric dysplasia Torrance variant|lethal short-limbed Platyspondylic dwarfism, Torrance type											Orphanet:85166|DOID:0111508|ICD10:Q77.8|GARD:0004382|UMLS:C1835437|MESH:C563627|OMIM:151210																		owl:Class
MONDO:0002139	biolink:NamedThing	sigmoid disease	Pathological processes in the sigmoid colon region of the large intestine (intestine, large).	mondoexuq1wtf												UMLS:C0037072|DOID:1897|MESH:D012810																		owl:Class
MONDO:0015428	biolink:NamedThing	choroidal atrophy-alopecia syndrome	Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	mondoexuq1wtf	regional choroidal atrophy and alopecia|choroidal atrophy alopecia|Moloney syndrome|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails											UMLS:C2931026|SCTID:720850008|MESH:C535810|GARD:0003704|Orphanet:1433																		owl:Class
MONDO:0019527	biolink:NamedThing	undifferentiated connective tissue syndrome	An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.	mondoexuq1wtf	undifferentiated connective tissue disease|UCTD											MedDRA:10071575|NCIT:C116776|ICD10:M35.8|SCTID:239918008|Orphanet:90002|UMLS:C0409999																		owl:Class
MONDO:0009099	biolink:NamedThing	nephrogenic diabetes insipidus-intracranial calcification syndrome	This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.	mondoexuq1wtf	diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|Schofer Beetz Bohl syndrome|diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome											OMIM:221995|ICD10:N21.5|SCTID:716200002|GARD:0000259|Orphanet:3145														https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification				owl:Class
MONDO:0008372	biolink:NamedThing	retinal aplasia		mondoexuq1wtf	retinal aplasia|amaurosis congenita											UMLS:C1867331|MESH:C566720|OMIM:179900																		owl:Class
MONDO:0013947	biolink:NamedThing	young adult-onset distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.	mondoexuq1wtf	autosomal recessive distal spinal muscular atrophy type 5|Young adult-onset dHMN|DSMA5|dSMA5|spinal muscular atrophy, distal, autosomal recessive, 5|spinal muscular atrophy, distal, autosomal recessive, type 5											ICD10:G12.2|OMIM:614881|UMLS:C3553989|Orphanet:314485																		owl:Class
MONDO:0011087	biolink:NamedThing	inflammatory bowel disease 2	An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.	mondoexuq1wtf	inflammatory bowel disease type 2|IBD2|inflammatory bowel disease 2											MESH:C563310|UMLS:C1832321|OMIM:601458|DOID:0110900																		owl:Class
MONDO:0003297	biolink:NamedThing	gallbladder leiomyoma	A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	gallbladder leiomyoma|leiomyoma of gallbladder|leiomyoma of the gallbladder|leiomyoma of gall bladder|gall bladder leiomyoma											UMLS:C1333745|NCIT:C5747|DOID:5140																		owl:Class
MONDO:0010178	biolink:NamedThing	congenital bilateral aplasia of vas deferens from CFTR mutation	An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.	mondoexuq1wtf	CBAVD|congenital bilateral aplasia of the vas deferens|CAVD|vas deferens, congenital bilateral aplasia of											OMIM:277180|NCIT:C129303																		owl:Class
MONDO:0018974	biolink:NamedThing	paraneoplastic pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare.	mondoexuq1wtf												Orphanet:63455|ICD10:L10.81|UMLS:C1112570|ICD10:L10.8|MedDRA:10057056|EFO:0008602																		owl:Class
MONDO:0007253	biolink:NamedThing	cancer, familial, with in vitro Radioresistance		mondoexuq1wtf	cancer, familial, with in vitro RADIORESISTANCE											MESH:C566179|OMIM:114450|UMLS:C1861915																		owl:Class
MONDO:0004544	biolink:NamedThing	chordoid meningioma	A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.	mondoexuq1wtf	chordoid meningioma|meningioma, chordoid|meningioma, chordoid (morphologic abnormality)|CHOM											NCIT:C6908|DOID:8368|EFO:1000176|ONCOTREE:CHOM|UMLS:C1370510																		owl:Class
MONDO:0024346	biolink:NamedThing	pityriasis amiantacea		mondoexuq1wtf	tinea amiantacea|pityriasis amiantacea											SCTID:238924007|UMLS:C0343100|ICD9:696.5																		owl:Class
MONDO:0010571	biolink:NamedThing	otopalatodigital syndrome type 2	Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	mondoexuq1wtf	OPD syndrome 2|FPO|otopalatodigital syndrome, type II|Andre syndrome|OPD 2 syndrome|OPD2|cranioorodigital syndrome|faciopalatoosseous syndrome|oto-palato-digital syndrome type 2|OPD II syndrome|cranio-oro-digital syndrome|otopalatodigital syndrome, type 2											MESH:C538089|GARD:0005802|SCTID:42432003|ICD9:759.89|ICD10:Q87.0|Orphanet:90652|DOID:0111784|OMIM:304120																		owl:Class
MONDO:0005658	biolink:NamedThing	Astroviridae infectious disease	Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.	mondoexuq1wtf												UMLS:C0376550|EFO:0007158|MESH:D019350																		owl:Class
MONDO:0011544	biolink:NamedThing	paragangliomas 3	Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.	mondoexuq1wtf	SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|SDHC paraganglioma|paragangliomas 3|paragangliomas type 3|glomus tumors, familial, 3|PGL3|paraganglioma caused by mutation in SDHC											OMIM:605373|GARD:0010545|UMLS:C1854336														https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3				owl:Class
MONDO:0004474	biolink:NamedThing	gallbladder lymphoma	A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.	mondoexuq1wtf	gallbladder lymphoma|gall bladder lymphoma|primary gallbladder lymphoma|lymphoma of the gallbladder|lymphoma of gallbladder|lymphoma of gall bladder											DOID:8135|UMLS:C1333748|NCIT:C5734																		owl:Class
MONDO:0012997	biolink:NamedThing	cholestasis-pigmentary retinopathy-cleft palate syndrome	Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.	mondoexuq1wtf	HARDIKAR syndrome|Hardikar syndrome											GARD:0009280|OMIM:612726|UMLS:C0795969|Orphanet:1415|MESH:C535632|SCTID:720636001																		owl:Class
MONDO:0017919	biolink:NamedThing	bladder exstrophy-epispadias-cloacal exstrophy complex	Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.	mondoexuq1wtf	EEC|exstrophy-epispadias complex|BEEC|bladder exstrophy-epispadias-cloacal extrophy complex											GARD:0002207|Orphanet:322|DOID:0080173|ICD10:Q64.1|UMLS:C1838703																		owl:Class
MONDO:0020177	biolink:NamedThing	pigmented palpebral tumor		mondoexuq1wtf	pigmented eyelid tumor|pigmented palpebral neoplasm											Orphanet:98586|UMLS:CN207037																		owl:Class
MONDO:0014392	biolink:NamedThing	developmental and epileptic encephalopathy, 25	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.	mondoexuq1wtf	SLC13A5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy 25|SLC13A5 deficiency|epileptic encephalopathy, early infantile, 25|early infantile epileptic encephalopathy caused by mutation in SLC13A5|EIEE25|DEE25|epileptic encephalopathy, early infantile, type 25											GARD:0012901|UMLS:C4014621|DOID:0080453|OMIM:615905														https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25				owl:Class
MONDO:0009754	biolink:NamedThing	neutropenia, lethal congenital, with eosinophilia		mondoexuq1wtf	neutropenia, lethal congenital, with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia lethal congenital with eosinophilia											GARD:0006107|MESH:C564943|UMLS:C1850381|OMIM:257100														https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia				owl:Class
MONDO:0006417	biolink:NamedThing	small intestinal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the small intestine.	mondoexuq1wtf	small intestine diffuse large B-cell lymphoma|small intestinal diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine											NCIT:C96055|EFO:1000534|UMLS:C3272522																		owl:Class
MONDO:0019972	biolink:NamedThing	dural sinus malformation		mondoexuq1wtf	cranial dural arteriovenous malformations|cranial dural arteriovenous fistula											Orphanet:97339|ICD10:Q28.3																		owl:Class
MONDO:0008648	biolink:NamedThing	ventricular tachycardia, familial	An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	ventricular tachycardia, familial polymorphic|familial ventricular tachycardia|hereditary ventricular tachycardia|ventricular tachycardia, familial											SCTID:233906007|GARD:0002263|OMIM:192605																		owl:Class
MONDO:0021408	biolink:NamedThing	polyp of frontal sinus	A polyp that involves the frontal sinus.	mondoexuq1wtf	frontal sinus polyp|polyp of the frontal sinus											ICD9:471.8|UMLS:C0339814|NCIT:C4367|SCTID:195759002																		owl:Class
MONDO:0045038	biolink:NamedThing	cutaneous basidiobolomycosis		mondoexuq1wtf												SCTID:240786004|UMLS:C0343966																		owl:Class
MONDO:0017452	biolink:NamedThing	non-syndromic brachydactyly of toes	A non-syndromic brachydactyly that involves the pes.	mondoexuq1wtf	non-syndromic brachydactyly of pes|pes non-syndromic brachydactyly|short toes											ICD10:Q72.8|SCTID:205346006|ICD9:755.66|Orphanet:294998																		owl:Class
MONDO:0015035	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type B	Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.	mondoexuq1wtf												ICD10:Q04.3|Orphanet:100012|UMLS:C4274993|UMLS:CN228901|SCTID:715819005																		owl:Class
MONDO:0012533	biolink:NamedThing	autism, susceptibility to, 7		mondoexuq1wtf	autism, susceptibility to, 7|AUTS7											OMIM:610676																		owl:Class
MONDO:0006397	biolink:NamedThing	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions	A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.	mondoexuq1wtf	renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|translocation-associated renal cell carcinoma|renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|Xp11.2 translocation-related renal cell carcinoma|tRCC|TFE3-Rearranged renal cell carcinoma											ONCOTREE:TRCC|ICDO:0000/0|NCIT:C27891|UMLS:C1337036|EFO:1000508																		owl:Class
MONDO:0001965	biolink:NamedThing	sclerosing keratitis		mondoexuq1wtf	sclerokeratitis											ICD10:H16.33|UMLS:C0155090|DOID:14444|SCTID:27886001|ICD9:370.54																		owl:Class
MONDO:0018448	biolink:NamedThing	clear cell papillary renal cell carcinoma	Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.	mondoexuq1wtf												UMLS:C4518333|SCTID:734015000|ICD10:C64|ONCOTREE:CCPRC|Orphanet:404511																		owl:Class
MONDO:0007763	biolink:NamedThing	nonpapillary renal cell carcinoma		mondoexuq1wtf	RCC|nonpapillary renal carcinoma 1 locus|adenocarcinoma of kidney|renal cell carcinoma, nonpapillary|hypernephroma|clear cell renal cell adenocarcinoma|clear cell renal cell carcinoma|CCRCC											Orphanet:319276|DOID:0050387|ICD10:C64|OMIM:144700														https://github.com/monarch-initiative/mondo/issues/2262				owl:Class
MONDO:0004690	biolink:NamedThing	tonsillar fossa cancer	A cancer involving a tonsillar fossa.	mondoexuq1wtf	malignant tumor of tonsillar fossa|malignant tonsillar fossa neoplasm|tonsillar fossa cancer|cancer of tonsillar fossa|malignant neoplasm of tonsillar fossa											ICD10:C09.0|DOID:8969|SCTID:363394001|ICD9:146.1|UMLS:C0153384																		owl:Class
MONDO:0021389	biolink:NamedThing	neoplasm of aortic body	A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.	mondoexuq1wtf	aortic body tumor|paraganglioma of aortic body|aorticopulmonary paraganglioma|neoplasm of the aortic body|tumor of aortic body|aortic body neoplasm (disease)|tumor of the aortic body|aortic body neoplasm|aortic body paraganglioma|neoplasm of aortic body|paraganglioma of the aortic body											ICD9:239.7|SCTID:127029006|ICDO:8691/1|NCIT:C4218|UMLS:C0334417																		owl:Class
MONDO:0025956	biolink:NamedThing	ovarian remnant syndrome	Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.	mondoexuq1wtf												GARD:0007297																		owl:Class
MONDO:0018941	biolink:NamedThing	furuncular myiasis	Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).	mondoexuq1wtf	furunculoid myiasis|furunculous myiasis											MESH:C538194|Orphanet:591|UMLS:C2931766|GARD:0002418|ICD10:B87.0																		owl:Class
MONDO:0016607	biolink:NamedThing	odontohypophosphatasia	Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.	mondoexuq1wtf												ICD10:E83.3|Orphanet:247685|SCTID:708672004|NCIT:C131309|UMLS:C1840322																		owl:Class
MONDO:0018737	biolink:NamedThing	catastrophic antiphospholipid syndrome		mondoexuq1wtf	catastrophic APS|caps											ICD10:D68.6|SCTID:609329007|UMLS:CN242096|Orphanet:464343|ICD9:289.81|GARD:0009820|UMLS:C3662487																		owl:Class
MONDO:0008630	biolink:NamedThing	urinary bladder, atony of		mondoexuq1wtf	atony of urinary bladder|urinary bladder, atony of											OMIM:191800																		owl:Class
MONDO:0001442	biolink:NamedThing	dysthymic disorder	A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.	mondoexuq1wtf	dysthymia											ICD10:F34.1|SCTID:78667006|COHD:433440|NCIT:C34562|DOID:12139|ICD9:300.4|MESH:D019263|EFO:0008623																		owl:Class
MONDO:0017551	biolink:NamedThing	humero-radial synostosis, bilateral		mondoexuq1wtf	humero-radial fusion, bilateral											Orphanet:295211|ICD10:Q74.0																		owl:Class
MONDO:0009900	biolink:NamedThing	polysyndactyly-cardiac malformation syndrome	Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	mondoexuq1wtf	Bonneau syndrome|polysyndactyly cardiac malformation|polysyndactyly with CARDIAC malformation											ICD10:Q87.8|UMLS:C1849719|Orphanet:2934|GARD:0004428|OMIM:263630|SCTID:724066002|MESH:C564875																		owl:Class
MONDO:0001365	biolink:NamedThing	necrosis of ear ossicle		mondoexuq1wtf	partial loss or necrosis of ear ossicles					Editor note: TODO consider cede to HPO						DOID:11783|ICD9:385.24																		owl:Class
MONDO:0017981	biolink:NamedThing	syngnathia-cleft palate syndrome		mondoexuq1wtf	syngnathia cleft palate											UMLS:CN204137|Orphanet:3263|GARD:0005091																		owl:Class
MONDO:0006717	biolink:NamedThing	cutaneous fibrous histiocytoma	A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.	mondoexuq1wtf	sclerosing angioma|benign fibrous cutaneous histiocytoma|dermatofibroma|dermatofibroma, no ICD-O subtype|pleomorphic fibroma|benign fibrous histiocytoma of the skin|benign cutaneous fibrous histiocytoma|dermatofibroma, no ICD-O subtype (morphologic abnormality)|DF|fibrous xanthoma of skin|fibrous histiocytoma of the skin|fibrohistiocytic neoplasm|benign fibrous histiocytoma of skin|benign skin fibrous histiocytoma|sclerosing angioma of skin|fibrous histiocytoma of skin|cutaneous fibrous histiocytoma|sclerosing angioma (morphologic abnormality)|fibrohistiocytic tumor											UMLS:C0002991|UMLS:C0346049|ICDO:8832/0|NCIT:C6801|DOID:4418|ONCOTREE:DF|EFO:1000885|SCTID:448015002																		owl:Class
MONDO:0100028	biolink:NamedThing	immune epilepsy	Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.	mondoexuq1wtf					2018-06-23 00:11:14+00:00																									owl:Class
MONDO:0015558	biolink:NamedThing	isolated bone marrow mastocytosis		mondoexuq1wtf												ICD10:C96.2|Orphanet:158778																		owl:Class
MONDO:0014547	biolink:NamedThing	combined oxidative phosphorylation defect type 24	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.	mondoexuq1wtf	combined oxidative phosphorylation deficiency 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|COXPD24|combined oxidative phosphorylation deficiency type 24|NARS2 combined oxidative phosphorylation deficiency											DOID:0111485|ICD10:G71.3|Orphanet:444458|OMIM:616239|UMLS:C4015643|EFO:0009034																		owl:Class
MONDO:0020275	biolink:NamedThing	oculocutaneous or ocular albinism	Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.	mondoexuq1wtf												Orphanet:98706|ICD10:E70.3																		owl:Class
MONDO:0009969	biolink:NamedThing	renal-genital-middle ear anomalies		mondoexuq1wtf	renal, genital, and middle EAR anomalies|renal genital middle ear anomalies											ICD10:Q87.8|GARD:0004664|Orphanet:1092|MESH:C564849|UMLS:C1849432|OMIM:267400														https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies				owl:Class
MONDO:0009915	biolink:NamedThing	46,XX disorder of sex development-skeletal anomalies syndrome		mondoexuq1wtf	pseudohermaphroditism, female, with skeletal anomalies|female pseudohermaphroditism-skeletal anomalies syndrome											UMLS:C1849696|Orphanet:2975|ICD10:Q56.2|OMIM:264270|MESH:C564869																		owl:Class
MONDO:0007377	biolink:NamedThing	granular corneal dystrophy type I	Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.	mondoexuq1wtf	GCDI|granular corneal dystrophy, type 1|corneal dystrophy, Groenouw type 1|granular corneal dystrophy type 1|GCD1|corneal dystrophy Groenouw type I|Groenouw type I corneal dystrophy|corneal dystrophy granular type|classic GCD|corneal dystrophy, Groenouw type I|corneal dystrophy, punctate or nodular|corneal dystrophy punctate or nodular|CDGG1|classic granular corneal dystrophy											SCTID:419039007|OMIM:121900|UMLS:C1641846|DOID:0080530|MESH:C537304|ICD10:H18.5|Orphanet:98962|GARD:0009677																		owl:Class
MONDO:0006779	biolink:NamedThing	heart aneurysm	A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.	mondoexuq1wtf	cardiac aneurysm											MESH:D006322|DOID:9768|ICD10:I25.3|MedDRA:10002350|ICD9:414.10|ICD9:414.19|SCTID:65340007|UMLS:C0018789|EFO:1000959																		owl:Class
MONDO:0003685	biolink:NamedThing	retroperitoneal germ cell neoplasm	A germ cell tumor that involves the retroperitoneal space.	mondoexuq1wtf	germ cell tumor of the retroperitoneum|germ cell neoplasm of the retroperitoneum|germ cell tumor of retroperitoneum|germ cell neoplasm of retroperitoneum|retroperitoneal germ cell tumor											NCIT:C6447|DOID:5874|UMLS:C1335776																		owl:Class
MONDO:0003437	biolink:NamedThing	occult small cell lung carcinoma	A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	mondoexuq1wtf	occult small cell carcinoma of the lung|occult small cell lung carcinoma|lung occult small cell carcinoma|occult small cell carcinoma of lung											NCIT:C6683|UMLS:C1335099|DOID:5414																		owl:Class
MONDO:0023142	biolink:NamedThing	fetal brain disruption sequence		mondoexuq1wtf												GARD:0002297														https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence				owl:Class
MONDO:0003081	biolink:NamedThing	thalamic disease	A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.	mondoexuq1wtf	disease or disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease|disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease or disorder											UMLS:C0039726|MESH:D013786|DOID:4662|NCIT:C85186																		owl:Class
MONDO:0000820	biolink:NamedThing	cerebral cavernous malformation	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.	mondoexuq1wtf	CCM|cavernous angiomatous malformations|cerebral capillary malformations|familial cavernous angioma											NCIT:C84626|DOID:0060669																		owl:Class
MONDO:0001156	biolink:NamedThing	borderline personality disorder	A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.	mondoexuq1wtf	BPD|borderline personality disorder (disease)|borderline personality disorder		borderline personality disorder (disease)									HP:0012076|MESH:D001883|NCIT:C92633|ICD9:301.83|DOID:10930|COHD:434626|ICD10:F60.3|SCTID:20010003																		owl:Class
MONDO:0009905	biolink:NamedThing	urban-Rogers-Meyer syndrome	This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	mondoexuq1wtf	urban-Rogers-Meyer syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome|intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus, osteopenia, and camptodactyly											MESH:C538276|Orphanet:3409|GARD:0005426|OMIM:264010|UMLS:C0796189|SCTID:716334004|ICD10:Q87.8																		owl:Class
MONDO:0021529	biolink:NamedThing	benign neoplasm of chest wall	A benign neoplasm that involves the chest wall.	mondoexuq1wtf	benign chest wall neoplasm|chest wall benign neoplasm|benign neoplasm of the chest wall|benign tumor of the chest wall|benign tumor of chest wall|benign chest wall tumor											SCTID:92058007|ICD9:229.8|NCIT:C8529|UMLS:C0684831																		owl:Class
MONDO:0015753	biolink:NamedThing	cap myopathy	Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.	mondoexuq1wtf	Cap disease|congenital myopathy with caps											ICD10:G71.2|UMLS:C3710589|Orphanet:171881|MESH:C579969|SCTID:703532002|GARD:0011915														https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy				owl:Class
MONDO:0008201	biolink:NamedThing	Perry syndrome	Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.	mondoexuq1wtf	parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome|Parkinsonism with alveolar hypoventilation and mental depression											ICD9:348.89|OMIM:168605|UMLS:C1868594|Orphanet:178509|SCTID:699184009|DOID:0060486|MESH:C566822|GARD:0010453														https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome				owl:Class
MONDO:0008311	biolink:NamedThing	progeria-short stature-pigmented nevi syndrome	Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.	mondoexuq1wtf	Mulvihill-Smith syndrome|progeroid short stature with pigmented nevi											Orphanet:2959|UMLS:C1261128|MESH:C536422|SCTID:399947002|ICD9:759.89|OMIM:176690|GARD:0004494																		owl:Class
MONDO:0013591	biolink:NamedThing	epiphyseal dysplasia, multiple, 6	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.	mondoexuq1wtf	multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|multiple epiphyseal dysplasia 6|COL9A1 multiple epiphyseal dysplasia (disease)|EDM6|epiphyseal dysplasia, multiple, type 6|epiphyseal dysplasia, multiple, 6											UMLS:C2675767|OMIM:614135|DOID:0070301|GARD:0013376														https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6				owl:Class
MONDO:0012544	biolink:NamedThing	brachydactyly-syndactyly syndrome	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	mondoexuq1wtf	brachydactyly-syndactyly, Zhao type|brachydactyly-syndactyly syndrome|brachydactyly-syndactyly-oligodactyly syndrome|BDSD|Bdsd											DOID:0050689|ICD10:Q73.8|UMLS:C1853137|MESH:C565193|OMIM:610713|Orphanet:93409																		owl:Class
MONDO:0015909	biolink:NamedThing	aplastic anemia	Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.	mondoexuq1wtf												MESH:D000741|ICD10:D61.8|ICD9:284.9|ICD10:D61.9|ICD10:D61.0|COHD:137829|ICD10:D61.3|DOID:12449|ICD9:284.8|ICD10:D61.1|NCIT:C2870|ICD10:D61.2|Orphanet:182040|SCTID:306058006																		owl:Class
MONDO:0001219	biolink:NamedThing	serous conjunctivitis except viral		mondoexuq1wtf	serous conjunctivitis, except viral											UMLS:C0155142|DOID:11197|ICD9:372.01|COHD:375266|SCTID:9824006|ICD10:H10.23																		owl:Class
MONDO:0001715	biolink:NamedThing	basilar artery occlusion		mondoexuq1wtf												ICD9:433.01|COHD:437308|ICD10:I65.1|SCTID:195180004|ICD9:433.00|ICD9:433.0|DOID:13446																		owl:Class
MONDO:0000082	biolink:NamedThing	pelvic organ prolapse	Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.	mondoexuq1wtf						Text of OMIM 613088 points to OMIM 176780 for disease description.						EFO:0004710|SCTID:237113009|DC:0000354|UMLS:C0877015|MESH:D056887																		owl:Class
MONDO:0019253	biolink:NamedThing	metabolic disease involving other neurotransmitter deficiency		mondoexuq1wtf												UMLS:CN205839|Orphanet:79219																		owl:Class
MONDO:0010780	biolink:NamedThing	mitochondrial myopathy with reversible cytochrome C oxidase deficiency		mondoexuq1wtf	mitochondrial myopathy with reversible COX deficiency|reversible infantile respiratory chain deficiency|Cox deficiency myopathy, infantile, transient|reversible infantile cytochrome C oxidase deficiency|infantile reversible cytochrome C oxidase deficiency myopathy|mitochondrial myopathy with reversible complex IV deficiency|mitochondrial myopathy, infantile, transient|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|respiratory chain deficiency, infantile, transient|benign COX deficiency|MMIT											UMLS:C3151898|Orphanet:254864|OMIM:500009|ICD10:G71.3																		owl:Class
MONDO:0023039	biolink:NamedThing	eccrine mucinous carcinoma		mondoexuq1wtf												GARD:0010465|UMLS:C0346020														https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma				owl:Class
MONDO:0011156	biolink:NamedThing	progressive familial intrahepatic cholestasis type 2	Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.	mondoexuq1wtf	PFIC2|ABCB11 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 2|severe ABCB11 deficiency|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|cholestasis, progressive familial intrahepatic, 2|BSEP deficiency											UMLS:CN205889|ICD10:K76.8|Orphanet:79304|GARD:0001288|OMIM:601847|DOID:0070222														https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2				owl:Class
MONDO:0011559	biolink:NamedThing	benign recurrent intrahepatic cholestasis type 2		mondoexuq1wtf	benign recurrent intrahepatic cholestasis 2|Bric type 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic 2|cholestasis, benign recurrent intrahepatic, type 2|recurrent familial intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic, 2|BRIC2											DOID:0070232|Orphanet:99961|GARD:0010029|GARD:10029|MESH:C535934|OMIM:605479|ICD10:K83.1														https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2				owl:Class
MONDO:0008448	biolink:NamedThing	spheroid body myopathy	Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	mondoexuq1wtf	autosomal dominant spheroid body myopathy|myopathy, spheroid body											ICD10:G71.8|SCTID:765092004|Orphanet:268129|DOID:0080091|OMIM:182920|GARD:0008711|MESH:C000598645|UMLS:C1866785														https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy				owl:Class
MONDO:0012215	biolink:NamedThing	myofibrillar myopathy 3	Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	mondoexuq1wtf	LGMD1A|myofibrillar myopathy type 3|muscular dystrophy, proximal, type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy|myopathy, myofibrillar, myotilin-related|limb-girdle muscular dystrophy type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|autosomal dominant distal myopathy caused by mutation in MYOT|muscular dystrophy, limb-girdle, type 1A|myotilinopathy|myopathy, myofibrillar, type 3|myopathy, myofibrillar, 3|proximal muscular dystrophy type 1A|muscular dystrophy limb-girdle type 1A|MFM3|distal myotilinopathy|MYOT autosomal dominant distal myopathy|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|LGMD1|autosomal dominant limb-girdle muscular dystrophy type 1A											GARD:0010229|UMLS:C1834659|ICD10:G71.8|Orphanet:266|MESH:C563775|OMIM:609200|DOID:0110300|Orphanet:98911|DOID:0080094|OMIM:159000|UMLS:C1836607|MESH:C535906|ICD10:G71.0|SCTID:719985001|SCTID:765196004														https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a				owl:Class
MONDO:0009476	biolink:NamedThing	atresia of small intestine	Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.	mondoexuq1wtf	congenital small intestine atresia|atresia of the small intestine|apple-peel intestinal atresia|APSB|intestinal atresia type IIIb|small intestine atresia|apple peel syndrome|jejunal atresia|familial apple peel jejunal atresia|apple peel small bowel syndrome|congenital atresia of the small intestine|Jejunoileal atresia|small intestinal atresia											UMLS:C0266172|GARD:0000140|ICD10:Q41.0|GARD:0006799|NCIT:C98828|ICD10:Q41.2|MedDRA:10010626|ICD10:Q41.8|ICD10:Q41.1|Orphanet:1201|ICD10:Q41.9|OMIM:243600|MESH:C538260																		owl:Class
MONDO:0001224	biolink:NamedThing	Angelucci syndrome	Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.	mondoexuq1wtf	acute atopic conjunctivitis|Angelucci's syndrome|Angelucci syndrome											COHD:380111|DOID:11203|ICD9:372.05|SCTID:67678004|ICD10:H10.1|NCIT:C34353|UMLS:C0001309																		owl:Class
MONDO:0012943	biolink:NamedThing	retinitis pigmentosa 46	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.	mondoexuq1wtf	RP46|IDH3B retinitis pigmentosa|retinitis pigmentosa 46|retinitis pigmentosa type 46|retinitis pigmentosa caused by mutation in IDH3B|retinitis pigmentosa, autosomal recessive, Idh3B-related											OMIM:612572|MESH:C567249|ICD10:H35.5|UMLS:C2675496|DOID:0110409																		owl:Class
MONDO:0011639	biolink:NamedThing	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.	mondoexuq1wtf	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis|RPS28 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPS28|DBA15					Not in the OMIM series 105650.						OMIM:606164|UMLS:C4225411|UMLS:C1853576																		owl:Class
MONDO:0003482	biolink:NamedThing	Pediculus humanus corporis infestation	A infectious disease involving the Pediculus humanus corporis.	mondoexuq1wtf	body louse infestation|Pediculus corporis|Pediculus humanus corporis infection|Pediculus humanus infestation|infections, Pediculus humanus corporis|Pediculus corporis [body louse]											UMLS:C0030758|ICD10:B85.1|SCTID:25188002|ICD9:132.1|DOID:5513																		owl:Class
MONDO:0004440	biolink:NamedThing	pineal region meningioma	A meningioma that affects the pineal gland.	mondoexuq1wtf	pineal area meningioma|meningioma of pineal region|meningioma of pineal area|meningioma of the pineal area|meningioma (disease) of pineal body|pineal meningioma|meningioma of the pineal region|meningioma of the pineal gland|meningioma of pineal gland|pineal gland meningioma|pineal body meningioma (disease)											DOID:8031|UMLS:C1335418|NCIT:C6756																		owl:Class
MONDO:0004772	biolink:NamedThing	glaucomatocyclitic crisis		mondoexuq1wtf	Terrien-Viel syndrome|Posner-Schlossman syndrome											SCTID:29538005|DOID:9378|UMLS:C0152138|ICD9:364.22																		owl:Class
MONDO:0002478	biolink:NamedThing	mixed germ cell-sex cord-stromal tumor	A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.	mondoexuq1wtf	mixed germ cell-Sex cord tumor|mixed germ cell-Sex cord-stromal tumor|mixed germ cell-Sex cord neoplasm|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-sex cord-stromal tumor (morphologic abnormality)											NCIT:C5241|DOID:2996|UMLS:C1321220																		owl:Class
MONDO:0015697	biolink:NamedThing	immunoglobulin heavy chain deficiency		mondoexuq1wtf												ICD10:D80.8|ICD9:279.03|UMLS:C0398692|Orphanet:169110|SCTID:234539005																		owl:Class
MONDO:0001496	biolink:NamedThing	male genital organ stricture		mondoexuq1wtf	stricture of male genital organs											ICD9:608.85|SCTID:198064007|DOID:12333|COHD:194999																		owl:Class
MONDO:0000233	biolink:NamedThing	Japanese spotted fever	A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.	mondoexuq1wtf	spotted fever, Japanese|fever, Japanese spotted|Rickettsia japonica spotted fever|oriental spotted fever|Japanese spotted fever|fevers, Japanese spotted|Japanese spotted fevers											DOID:0050050|UMLS:C2108396																		owl:Class
MONDO:0007517	biolink:NamedThing	ectrodactyly-cleft palate syndrome		mondoexuq1wtf	ectrodactyly-cleft palate syndrome|Ecp syndrome											UMLS:C1851848|MESH:C565064|Orphanet:1889|OMIM:129830|UMLS:CN229012																		owl:Class
MONDO:0000639	biolink:NamedThing	cartilage cancer	A cancer involving a cartilage tissue.	mondoexuq1wtf	cancer of cartilage tissue|malignant cartilage tissue neoplasm|cartilage tissue cancer|cartilaginous cancer|malignant neoplasm of cartilage tissue											GARD:0006004|DOID:0060102														https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer				owl:Class
MONDO:0015193	biolink:NamedThing	hydrops fetalis	Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).	mondoexuq1wtf	generalized fetal edema|fetal anasarca|fetal edema|hydrops fetalis nonimmune|fetal hydrops|idiopathic hydrops fetalis|familial non-immune hydrops fetalis|hydrops fetalis|hydrops fetalis (disease)|HF		hydrops fetalis (disease)									GARD:0002301|MedDRA:10020529|SCTID:276508000|NCIT:C84767|Orphanet:1041|HP:0001789|GARD:0002783|ICD10:P83.2|ICD10:P56.0|UMLS:C0020305|ICD10:P56.9																		owl:Class
MONDO:0008195	biolink:NamedThing	paramyotonia congenita of Von Eulenburg	Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).	mondoexuq1wtf	Von Eulenburg paramyotonia congenita|PMC|paramyotonia congenita|myotonia congenita intermittens|paramyotonia congenita without cold paralysis|paramyotonia congenita of Von Eulenburg|paralysis periodica Paramyotonica|Eulenburg disease|paramyotonia congenita of VON Eulenburg											DOID:0111538|ICD9:359.29|SCTID:41574007|Orphanet:684|OMIM:168300|ICD10:G71.1|GARD:0007325|NCIT:C122790																		owl:Class
MONDO:0002588	biolink:NamedThing	thymoma type A	A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.	mondoexuq1wtf	thymoma type A|spindle cell thymoma|primary thymic epithelial neoplasm type A|medullary thymoma|primary thymic epithelial tumor type A|thymoma, medullary											NCIT:C6454|ICDO:8581/1|ICD10:D15.0|DOID:3279|Orphanet:263310|UMLS:C1266091|ICD10:C37																		owl:Class
MONDO:0009930	biolink:NamedThing	pulmonary arteriovenous malformation	Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.	mondoexuq1wtf	PAVM|arteriovenous fistula of pulmonary vessels|pulmonar arteriovenous aneurysm|pulmonary arterio-veinous fistula|pulmonary arteriovenous malformation|pulmonary arteriovenous malformation (disease)|pulmonary arteriovenous fistula|pulmonary arteriovenous fistulas|pulmonary AV fistula		pulmonary arteriovenous malformation (disease)									ICD10:Q25.7|SCTID:303070000|Orphanet:2038|NCIT:C99029|MESH:C562404|UMLS:C0155675|HP:0006548|GARD:0004584|MedDRA:10037332|OMIM:265140|COHD:4119302																		owl:Class
MONDO:0012610	biolink:NamedThing	inflammatory bowel disease 10	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.	mondoexuq1wtf	inflammatory bowel disease 10|inflammatory bowel disease type 10|IBD10|inflammatory bowel disease caused by mutation in ATG16L1|inflammatory bowel disease (Crohn disease) 10|ATG16L1 inflammatory bowel disease											MESH:C567021|UMLS:C1970207|DOID:0110885|OMIM:611081																		owl:Class
MONDO:0009309	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.	mondoexuq1wtf	granulomatous disease, chronic, due to Ncf1 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|CGD, autosomal recessive cytochrome B-positive, type 1|NCF1 chronic granulomatous disease|CDG1|Soc2, deficiency of|Ncf1, deficiency of|p47-PHOX, deficiency of|neutrophil cytosol Factor 1, deficiency of|chronic granulomatous disease caused by mutation in NCF1|soluble oxidase component II, deficiency of											UMLS:C1856251|MESH:C565532|OMIM:233700|DOID:0070192																		owl:Class
MONDO:0018757	biolink:NamedThing	supratip dysplasia	Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	mondoexuq1wtf												ICD10:J34.8|Orphanet:466695																		owl:Class
MONDO:0008572	biolink:NamedThing	tibia, hypoplasia or aplasia of, with polydactyly		mondoexuq1wtf	tibia, hypoplasia or aplasia of, with polydactyly|THYP|tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia											MESH:C566046|DOID:0111564|OMIM:188740																		owl:Class
MONDO:0011279	biolink:NamedThing	autosomal recessive nonsyndromic deafness 17	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.	mondoexuq1wtf	DFNB17|autosomal recessive nonsyndromic deafness type 17|autosomal recessive deafness 17|deafness, autosomal recessive 17											ICD10:H90.3|MESH:C566418|DOID:0110472|OMIM:603010|UMLS:C1864276																		owl:Class
MONDO:0009957	biolink:NamedThing	Reese retinal dysplasia		mondoexuq1wtf	Reese retinal dysplasia											MESH:C564854|GARD:0010566|UMLS:C1849450|OMIM:266400														https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia				owl:Class
MONDO:0044750	biolink:NamedThing	lassa virus infectious disease		mondoexuq1wtf	infection caused by Lassa virus|Lassa virus infection											UMLS:C1617072|SCTID:721779001																		owl:Class
MONDO:0008659	biolink:NamedThing	transcobalamin I deficiency		mondoexuq1wtf	R Binder deficiency with lactoferrin deficiency|transcobalamin 1 deficiency with lactoferrin deficiency|transcobalamin-1 deficiency|transcobalamin I deficiency|Haptocorrin deficiency|transcobalamin 1 deficiency|Tcn1 deficiency|TCI deficiency|cobalamin R Binder Protein deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency											MESH:C562798|SCTID:237933007|Orphanet:2967|GARD:0005239|OMIM:193090|ICD10:E53.8|UMLS:C0342700														https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency				owl:Class
MONDO:0008730	biolink:NamedThing	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.	mondoexuq1wtf	CAH due to 17-alpha-hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|17-Alpha-Hydroxylase deficiency|combined 17-hydroxylase/17,20-lyase deficiency|17,20-lyase deficiency, isolated|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|adrenal hyperplasia 5|congenital adrenal hyperplasia type 5|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency											SCTID:124220008|OMIM:202110|GARD:0001469|ICD9:277.6|ICD10:E25.0|Orphanet:90793														https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency				owl:Class
MONDO:0014013	biolink:NamedThing	maternal riboflavin deficiency		mondoexuq1wtf	RBFVD|riboflavin deficiency											ICD10:P00.4|Orphanet:411712																		owl:Class
MONDO:0004573	biolink:NamedThing	ariboflavinosis	A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)	mondoexuq1wtf	vitamin B2 deficiency|riboflavin deficiency											ICD10:E53.0|SCTID:20307000|OMIM:615026|ICD9:266.0|COHD:432580|DOID:8454																		owl:Class
MONDO:0012896	biolink:NamedThing	psoriasis 10, susceptibility to		mondoexuq1wtf	PSORS10|psoriasis 10, susceptibility to											DOID:0111289|OMIM:612410																		owl:Class
MONDO:0018465	biolink:NamedThing	insulin autoimmune syndrome	Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.	mondoexuq1wtf	Hirata disease|insulin autoimmune hypoglycemia											ICD10:E16.1|SCTID:408539000|UMLS:C0854359|Orphanet:411593|ICD9:279.49|GARD:0010808|DOID:0040100														https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome				owl:Class
MONDO:0007616	biolink:NamedThing	fibula, recurrent dislocation of head of		mondoexuq1wtf	fibula, recurrent dislocation of head of											UMLS:C1851099|OMIM:135800|MESH:C565011																		owl:Class
MONDO:0015640	biolink:NamedThing	benign infantile seizures associated with mild gastroenteritis	Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	mondoexuq1wtf												Orphanet:166305|SCTID:765756007																		owl:Class
MONDO:0001472	biolink:NamedThing	testicular lymphoma	A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.	mondoexuq1wtf	testicular lymphoma|lymphoma of testis|lymphoma of the testis|malignant lymphoma of testis|TLYM|primary testicular lymphoma											SCTID:277664004|ONCOTREE:TLYM|UMLS:C0349644|DOID:12253|NCIT:C6810|ICD9:186.9																		owl:Class
MONDO:0013725	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 7	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.	mondoexuq1wtf	hereditary nonpolyposis colon cancer caused by mutation in MLH3|HNPCC7|colorectal cancer, hereditary nonpolyposis, type 7|MLH3 hereditary nonpolyposis colon cancer											DOID:0070276|UMLS:C1858380|MESH:C565777|OMIM:614385																		owl:Class
MONDO:0001361	biolink:NamedThing	spontaneous ocular nystagmus	Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)	mondoexuq1wtf	ocular nystagmus|searching eye movements|visual deprivation nystagmus											UMLS:C0271384|ICD10:H55.03|ICD9:379.53|DOID:11771|SCTID:45339001																		owl:Class
MONDO:0013913	biolink:NamedThing	hypogonadotropic hypogonadism 11 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism caused by mutation in TACR3|TACR3 hypogonadotropic hypogonadism|HH11|hypogonadotropic hypogonadism 11 with or without anosmia											ICD10:E23.0|UMLS:C3553844|DOID:0090071|OMIM:614840																		owl:Class
MONDO:0011483	biolink:NamedThing	polycystic bone disease		mondoexuq1wtf	polycystic bone disease|Pcbd											GARD:0008571|UMLS:C1858143|OMIM:604771|MESH:C536324														https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease				owl:Class
MONDO:0006744	biolink:NamedThing	endolymphatic hydrops	An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.	mondoexuq1wtf	labyrinthine hydrops											EFO:1000918|ICD9:386.8|ICD10:H81.0|UMLS:C0206586|MedDRA:10049934|SCTID:27621000119100|MESH:D018159|DOID:9848																		owl:Class
MONDO:0018475	biolink:NamedThing	PRKAR1B-related neurodegenerative dementia with intermediate filaments		mondoexuq1wtf												ICD10:G31.8|Orphanet:412066|UMLS:CN237461																		owl:Class
MONDO:0014491	biolink:NamedThing	immunodeficiency 37	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.	mondoexuq1wtf	immunodeficiency 37|BCL10 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in BCL10|immunodeficiency type 37|IMD37											UMLS:C4015195|OMIM:616098																		owl:Class
MONDO:0015757	biolink:NamedThing	lymphoid hemopathy		mondoexuq1wtf												Orphanet:171898																		owl:Class
MONDO:0022991	biolink:NamedThing	diploid-triploid mosaicism	Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.	mondoexuq1wtf	Mosaic triploidy|diploid/triploid mixoploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|diploid/triploid mosaicism											ICD9:758.89|MESH:C548012|SCTID:10177005|GARD:0010715|UMLS:C0265505														https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism				owl:Class
MONDO:0019770	biolink:NamedThing	X-linked dominant intellectual disability-epilepsy syndrome		mondoexuq1wtf												Orphanet:93951|UMLS:CN227687																		owl:Class
MONDO:0007689	biolink:NamedThing	guanylate kinase 3		mondoexuq1wtf	guanylate kinase 3|GUK3|guanylate kinase type 3|guanylate KINASE 3											OMIM:139290																		owl:Class
MONDO:0023650	biolink:NamedThing	littoral cell angioma of the spleen	Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.	mondoexuq1wtf	littoral cell angioma											SCTID:418040002|UMLS:C1627365|GARD:0009714|MESH:C537031														https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen				owl:Class
MONDO:0014290	biolink:NamedThing	neurodegeneration with brain iron accumulation 6	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.	mondoexuq1wtf	COASY protein-associated neurodegeneration|neurodegeneration with brain iron accumulation due to COASY mutation|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation caused by mutation in COASY|NBIA6|CoPAN|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation 6											GARD:0012571|DOID:0110740|SCTID:732264002|Orphanet:397725|UMLS:C3810230|ICD10:G23.0|OMIM:615643																		owl:Class
MONDO:0025370	biolink:NamedThing	urogenital neoplasm	Tumors or cancer of the urogenital system in either the male or the female.	mondoexuq1wtf	genitourinary neoplasm|genito-urinary neoplasm|neoplasm, genito-urinary|neoplasms, genitourinary|genitourinary system neoplasm|neoplasm, urogenital|neoplasms, urogenital|urogenital neoplasm|neoplasm of genitourinary system|tumor of genitourinary system|genito-urinary neoplasms|neoplasm, genitourinary|genitourinary neoplasms|neoplasms, genito-urinary|genitourinary system tumor											EFO:0003863|MESH:D014565																		owl:Class
MONDO:0014749	biolink:NamedThing	tooth agenesis, selective, 7	Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.	mondoexuq1wtf	LRP6 tooth agenesis|STHAG7|tooth agenesis, selective, 7; STHAG7|tooth agenesis, selective, 7|tooth agenesis caused by mutation in LRP6|tooth agenesis, selective, type 7											UMLS:C4225231|OMIM:616724																		owl:Class
MONDO:0008677	biolink:NamedThing	widow's peak		mondoexuq1wtf	widow'S peak|widow's peak (disease)|widow's peak		widow's peak (disease)									OMIM:194000|HP:0000349																		owl:Class
MONDO:0012108	biolink:NamedThing	spondyloepimetaphyseal dysplasia, matrilin-3 type	Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	mondoexuq1wtf	SEMD, matrilin-3 type|SEMD MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 type|spondyloepimetaphyseal dysplasia matrilin-3 related|spondyloepimetaphyseal dysplasia, matrilin-3 related|SEMD, MATN3-related											Orphanet:156728|MESH:C563869|OMIM:608728|UMLS:C1837481|ICD10:Q77.7|GARD:0010611|SCTID:719166003																		owl:Class
MONDO:0008027	biolink:NamedThing	muscular atrophy, malignant neurogenic		mondoexuq1wtf	muscular atrophy, malignant neurogenic											UMLS:C1834689|MESH:C563559|OMIM:158650																		owl:Class
MONDO:0016089	biolink:NamedThing	infantile Krabbe disease		mondoexuq1wtf	Krabbe disease, classic form|Krabbe disease, early-onset											SCTID:238030005|ICD10:E75.2|Orphanet:206436																		owl:Class
MONDO:0011718	biolink:NamedThing	primary ciliary dyskinesia 2	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, type 2|primary ciliary dyskinesia type 2|CILD2|primary ciliary dyskinesia 2 with or without situs inversus|DNAAF3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 2, with or without situs inversus|ciliary dyskinesia, primary, 2|primary ciliary dyskinesia caused by mutation in DNAAF3											MESH:C535277|UMLS:C1847554|ICD10:Q34.8|DOID:0110626|OMIM:606763																		owl:Class
MONDO:0013699	biolink:NamedThing	colorectal cancer, hereditary nonpolyposis, type 4	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.	mondoexuq1wtf	colorectal cancer, hereditary nonpolyposis, type 4|hereditary nonpolyposis colon cancer caused by mutation in PMS2|PMS2 hereditary nonpolyposis colon cancer|HNPCC4											UMLS:C1838333|MESH:C563971|DOID:0070275|OMIM:614337																		owl:Class
MONDO:0015844	biolink:NamedThing	agenesis and aplasia of uterine body		mondoexuq1wtf												Orphanet:180142|ICD10:Q51.0																		owl:Class
MONDO:0033200	biolink:NamedThing	deafness, autosomal recessive 108		mondoexuq1wtf	deafness, autosomal recessive 108|DFNB108|autosomal recessive nonsyndromic deafness 108											OMIM:617654|DOID:0080263																		owl:Class
MONDO:0010381	biolink:NamedThing	Tn polyagglutination syndrome		mondoexuq1wtf	galactosyltransferase deficiency|Tn polyagglutination syndrome|TNPS											UMLS:C0272137|DOID:0080520|MESH:C562719|OMIM:300622																		owl:Class
MONDO:0032843	biolink:NamedThing	oculopharyngeal myopathy with leukoencephalopathy 1		mondoexuq1wtf	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1|OPML1											OMIM:618637																		owl:Class
MONDO:0010707	biolink:NamedThing	Paine syndrome		mondoexuq1wtf	Paine syndrome|Seemanova syndrome 1|microcephaly with spastic diplegia											GARD:0009780|OMIM:311400|MESH:C538101|UMLS:C1412041														https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome				owl:Class
MONDO:0007440	biolink:NamedThing	major affective disorder 1		mondoexuq1wtf	bipolar affective disorder|MAJOR affective disorder 1|MAFD1|major affective disorder 1|manic-depressive psychosis, autosomal|manic-depressive psychosis											DOID:0080220|OMIM:125480																		owl:Class
MONDO:0007351	biolink:NamedThing	coloboma of macula	Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	mondoexuq1wtf	agenesis of macula|coloboma of macula|macular coloboma|hereditary macular coloboma (subtype)											OMIM:120300|ICD10:Q14.8|GARD:0001436|Orphanet:98945																		owl:Class
MONDO:0012016	biolink:NamedThing	capillary malformation-arteriovenous malformation syndrome	This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.	mondoexuq1wtf	CM-AVM|CM-AVM syndrome|CMAVM|capillary malformation without arteriovenous malformation|capillary malformation-arteriovenous malformation											ICD10:Q27.3|SCTID:703533007|MESH:C564254|Orphanet:137667|ICD9:747.69|GARD:0011904|OMIMPS:608354														https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome				owl:Class
MONDO:0041755	biolink:NamedThing	twin reversal arterial perfusion syndrome		mondoexuq1wtf	twin reversal arterial perfusion syndrome											UMLS:C1562817|SCTID:417006004																		owl:Class
MONDO:0019805	biolink:NamedThing	twin to twin transfusion syndrome	Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated	mondoexuq1wtf	Fetofetal transfusion syndrome|Feto-fetal transfusion syndrome|stuck Twin syndrome|fetal hemorrhage into co-twin|Twin-to-twin blood transfer|Twin-Twin transfusion syndrome|fetal blood loss from fetal hemorrhage into co-twin|twin-to-twin transfusion syndrome|fetal transfusion syndrome|TTTS|Twin to twin transfusion|placental transfusion syndrome											MedDRA:10058328|GARD:0000325|DOID:13576|UMLS:CN206761|NCIT:C113824|Orphanet:95431|ICD10:O43.02|MESH:D005330|SCTID:13404009|ICD10:O43.0|EFO:1001221|ICD10:O43.029																		owl:Class
MONDO:0012922	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 5		mondoexuq1wtf	IHPS5|pyloric stenosis, infantile hypertrophic, 5|infantile hypertrophic pyloric stenosis type 5											UMLS:C2675862|MESH:C567283|OMIM:612525																		owl:Class
MONDO:0054776	biolink:NamedThing	epilepsy, familial focal, with variable foci 4		mondoexuq1wtf	FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4											UMLS:CN244552|OMIM:617935																		owl:Class
MONDO:0012274	biolink:NamedThing	acromesomelic dysplasia, Demirhan type		mondoexuq1wtf	acromesomelic dysplasia, DEMIRHAN type|acromesomelic dysplasia, Demirhan type|chondrodysplasia, acromesomelic, with or without genital anomalies|AMDD|chondrodysplasia acromesomelic with genital anomalies											GARD:0010077|OMIM:609441|MESH:C537913														https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies				owl:Class
MONDO:0019092	biolink:NamedThing	infantile apnea	Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	mondoexuq1wtf	apnea of infancy											SCTID:724229002|Orphanet:70590|GARD:0006779|UMLS:CN205590|UMLS:C0745261																		owl:Class
MONDO:0013205	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 5		mondoexuq1wtf	corneal dystrophy, Fuchs endothelial, late-onset|FECD5|corneal dystrophy, Fuchs endothelial, 5|Fcd3 locus											UMLS:C2750449|OMIM:613269																		owl:Class
MONDO:0001536	biolink:NamedThing	vaginal leiomyoma	A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of vagina|leiomyoma of the vagina|vagina leiomyoma|vaginal leiomyoma											UMLS:C1336939|DOID:125|NCIT:C6373																		owl:Class
MONDO:0009219	biolink:NamedThing	fascial dystrophy, congenital		mondoexuq1wtf	fascial dystrophy, congenital											MESH:C563219|ICD9:709.8|SCTID:399948007|OMIM:228020																		owl:Class
MONDO:0008492	biolink:NamedThing	stiff skin syndrome	Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.	mondoexuq1wtf	STIFF skin syndrome|SSKS|stiff skin syndrome											MESH:C566112|NCIT:C118636|Orphanet:2833|OMIM:184900|GARD:0005025|ICD10:L98.8|SCTID:765187004|UMLS:C1861456|DOID:0111561														https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome				owl:Class
MONDO:0005313	biolink:NamedThing	necrotizing enterocolitis	Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.	mondoexuq1wtf	necrotizing enterocolitis|NEC|necrotizing enterocolitis in fetus or newborn											NCIT:C84915|MESH:D020345|UMLS:C0520459|SCTID:2707005|ICD9:777.5|EFO:0003928|Orphanet:391673|UMLS:C4082937																		owl:Class
MONDO:0009172	biolink:NamedThing	enterocolitis	An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.	mondoexuq1wtf	enterocolitis|enterocolitis (disease)		enterocolitis (disease)									UMLS:C0014356|MESH:D004760|SCTID:43752006|ICD9:558.9|OMIM:226150|EFO:1001481|HP:0004387|NCIT:C79573																		owl:Class
MONDO:0019558	biolink:NamedThing	discoid lupus erythematosus	A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).	mondoexuq1wtf	DLE											MedDRA:10013072|NCIT:C26820|ICD10:L93.0|COHD:4066824|SCTID:200938002|MESH:D008179|UMLS:C0024138|Orphanet:90281																		owl:Class
MONDO:0004243	biolink:NamedThing	vulvar proximal-type epithelioid sarcoma	An epithelioid sarcoma of the proximal type involving the vulva.	mondoexuq1wtf												NCIT:C40319|DOID:7491|UMLS:C1520093																		owl:Class
MONDO:0014877	biolink:NamedThing	myopathy, distal, 5	Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.	mondoexuq1wtf	distal myopathy caused by mutation in ADSSL1|myopathy, distal, 5; MPD5|myopathy, distal, 5|myopathy, distal, type 5|MPD5|ADSSL1 distal myopathy											UMLS:C4310754|OMIM:617030																		owl:Class
MONDO:0001285	biolink:NamedThing	endometriosis of pelvic peritoneum		mondoexuq1wtf												UMLS:C0156345|ICD10:N80.3|DOID:11429|SCTID:198251001|ICD9:617.3|COHD:197033																		owl:Class
MONDO:0011443	biolink:NamedThing	febrile seizures, familial, 4	Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.	mondoexuq1wtf	ADGRV1 febrile seizures, familial|febrile seizures, familial, 4|febrile seizures, familial, type 4|FEB4|febrile seizures, familial caused by mutation in ADGRV1|convulsions, familial febrile, 4											OMIM:604352|MESH:C565788|DOID:0111305|UMLS:C1858493																		owl:Class
MONDO:0011545	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 3	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.	mondoexuq1wtf	epilepsy, nocturnal frontal lobe, type 3|epilepsy, nocturnal frontal lobe, 3|autosomal dominant nocturnal frontal lobe epilepsy type 3|ENFL3|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|nocturnal frontal lobe epilepsy 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy											MESH:C565334|UMLS:C1854335|OMIM:605375|DOID:0060684																		owl:Class
MONDO:0015284	biolink:NamedThing	heart-hand syndrome type 2	Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).	mondoexuq1wtf	heart-hand syndrome 2|Tabatznik syndrome|atriodigital dysplasia type 2											GARD:0009847|ICD10:Q87.2|SCTID:721010003|UMLS:C2931323|MESH:C536784|Orphanet:1350																		owl:Class
MONDO:0030995	biolink:NamedThing	global developmental delay with speech and behavioral abnormalities		mondoexuq1wtf	GDSBA											OMIM:619243																		owl:Class
MONDO:0009976	biolink:NamedThing	retinal degeneration and epilepsy		mondoexuq1wtf	retinal degeneration and epilepsy											MESH:C564847|UMLS:C1849416|OMIM:267740																		owl:Class
MONDO:0020276	biolink:NamedThing	pigmentation disorder with eye involvement, excluding albinism		mondoexuq1wtf												Orphanet:98708|UMLS:CN227845																		owl:Class
MONDO:0012619	biolink:NamedThing	intellectual disability, autosomal recessive 11		mondoexuq1wtf	MRT11|mental retardation, autosomal recessive 11|intellectual disability, autosomal recessive 11											OMIM:611097|MESH:C567012|UMLS:C1970193																		owl:Class
MONDO:0022642	biolink:NamedThing	childhood carcinoid tumor	A rare carcinoid tumor that occurs during childhood.	mondoexuq1wtf	childhood carcinoid tumor|pediatric carcinoid tumor (disease)|carcinoid tumor childhood|carcinoid tumor (disease) of childhood|childhood carcinoid tumor (disease)											UMLS:C3899673|NCIT:C118810|GARD:0009315														https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood				owl:Class
MONDO:0030914	biolink:NamedThing	Clark-Baraitser syndrome		mondoexuq1wtf	intellectual disability, tall stature, obesity, macrocephaly and typical facial features|mental retardation, autosomal dominant 49|Baraitser syndrome|MRD49|autosomal dominant intellectual disability 49|mental retardation, tall stature, obesity, macrocephaly and typical facial features|autosomal dominant mental retardation 49|Clark-Baraitser syndrome|intellectual disability, autosomal dominant 49											UMLS:CN593636|MESH:C536208|OMIM:617752|UMLS:C2931130|GARD:0009994|DOID:0080234|OMIM:300602														https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome				owl:Class
MONDO:0032854	biolink:NamedThing	zimmermann-laband syndrome 3		mondoexuq1wtf	ZLS3|ZIMMERMANN-LABAND SYNDROME 3											OMIM:618658																		owl:Class
MONDO:0013047	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.	mondoexuq1wtf	glycogenosis type 11|GSD 11|GSD type 11|LDHA glycogen storage disease|GSD due to lactate dehydrogenase M-subunit deficiency|lactate dehydrogenase A deficiency|lactate dehydrogenase deficiency type A|GSD11|glycogen storage disease caused by mutation in LDHA|glycogen storage disease type 11|GSD XI|LDH-M subunit deficiency|glycogen storage disease XI|glycogenosis due to lactate dehydrogenase M-subunit deficiency											GARD:0003160|OMIM:612933|Orphanet:284426|HGNC:6535|ICD10:E74.0|ICD9:271.8|MESH:C538133|SCTID:237982007														https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency				owl:Class
MONDO:0007446	biolink:NamedThing	dermatosis papulosa nigra	A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.	mondoexuq1wtf	dermatosis papulosa nigra|dermatosis papulosa nigra (morphologic abnormality)											NCIT:C2984|ICD9:709.8|SCTID:254669003|Wikipedia:Dermatosis_papulosa_nigra|ICD10:L82|OMIM:125600|EFO:1000686|DOID:4400|MESH:C562379|UMLS:C0011645																		owl:Class
MONDO:0017546	biolink:NamedThing	congenital vertical talus, unilateral		mondoexuq1wtf												ICD10:Q66.8|Orphanet:295201																		owl:Class
MONDO:0008652	biolink:NamedThing	congenital vertical talus	Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.	mondoexuq1wtf	vertical talus|pes valgus, congenital convex|CVT|vertical talus, congenital|rocker-bottom foot deformity|congenital rocker-bottom foot|rocker bottom foot|congenital convex foot|rocker-bottom foot|congenital convex pes valgus											MESH:C536345|SCTID:205082007|ICD9:755.67|ICD10:Q66.8|OMIM:192950|DOID:0111568|MedDRA:10066242|Orphanet:178382|GARD:0005488														https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus				owl:Class
MONDO:0054781	biolink:NamedThing	combined oxidative phosphorylation deficiency 36		mondoexuq1wtf	combined oxidative phosphorylation deficiency 36|COXPD36											OMIM:617950|DOID:0111482|UMLS:CN244569																		owl:Class
MONDO:0004467	biolink:NamedThing	mature gastric teratoma	A benign teratoma that arises from the stomach.	mondoexuq1wtf	mature gastric teratoma|stomach mature teratoma|mature teratoma of stomach|mature teratoma of the stomach											NCIT:C5260|UMLS:C1334635|DOID:8118																		owl:Class
MONDO:0004715	biolink:NamedThing	liver carcinoma in situ	A carcinoma in situ involving a liver.	mondoexuq1wtf	carcinoma in situ of liver, gallbladder and bile ducts|stage 0 liver carcinoma|liver in situ carcinoma|carcinoma in situ of liver|carcinoma in situ of liver and biliary system											ICD10:D01.5|DOID:9132|SCTID:92644006|UMLS:C0345908|ICD9:230.8																		owl:Class
MONDO:0001640	biolink:NamedThing	gonococcal spondylitis	An spondylitis caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf												SCTID:53664003|UMLS:C0153219|ICD9:098.53|DOID:13127																		owl:Class
MONDO:0008370	biolink:NamedThing	reticular dystrophy of retinal pigment epithelium		mondoexuq1wtf	reticular dystrophy of retinal pigment epithelium											OMIM:179840|UMLS:C1867332|SCTID:723502001|MESH:C566721																		owl:Class
MONDO:0012765	biolink:NamedThing	lymphedema, hereditary, 1B		mondoexuq1wtf	LMPH1B|lymphedema, hereditary, IB											DOID:0070211|OMIM:611944|UMLS:C2677787|MESH:C567452																		owl:Class
MONDO:0040653	biolink:NamedThing	autosomal recessive ocular albinism	Autosomal recessive form of ocular albinism (disease).	mondoexuq1wtf	ocular albinism (disease), autosomal recessive|AROA|autosomal recessive ocular albinism (disease)|autosomal recessive ocular albinism											SCTID:78921008																		owl:Class
MONDO:0001929	biolink:NamedThing	ascending cholangitis	Acute infection of the bile ducts caused by bacteria ascending from the small intestine.	mondoexuq1wtf	ascending cholangitis											NCIT:C35372|DOID:14270|UMLS:C0311273|SCTID:26918003|ICD10:K83.0																		owl:Class
MONDO:0013561	biolink:NamedThing	chondrodysplasia with joint dislocations, gPAPP type		mondoexuq1wtf	chondrodysplasia with joint dislocations, gPAPP type|gPAPP deficiency											UMLS:C3279757|GARD:0011009|OMIM:614078|Orphanet:280586																		owl:Class
MONDO:0013246	biolink:NamedThing	fatty liver disease, nonalcoholic, susceptibility to, 2		mondoexuq1wtf	NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2											OMIM:613387																		owl:Class
MONDO:0013209	biolink:NamedThing	non-alcoholic fatty liver disease	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	mondoexuq1wtf	liver disease, alcoholic, susceptibility to, 1|fatty liver disease, nonalcoholic|non-alcoholic fatty liver disease|nonalcoholic fatty liver disease|NAFLD - nonalcoholic fatty liver disease|fatty liver disease, nonalcoholic, susceptibility to, 1|NAFLD1|non-alcoholic fatty liver											DOID:0080208|SCTID:197315008|EFO:0003095|EFO:1001248|MESH:D065626|DC:0000158|ICD9:571.8|NCIT:C84444|MedDRA:10029530																		owl:Class
MONDO:0012451	biolink:NamedThing	esophagitis, eosinophilic, 1		mondoexuq1wtf	esophagitis, eosinophilic|esophagitis, eosinophilic, 1|EOE1											OMIM:610247																		owl:Class
MONDO:0014456	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency		mondoexuq1wtf	SCN6|neutropenia, severe congenital, 6, autosomal recessive											ICD10:D70|UMLS:C4014954|Orphanet:423384|OMIM:616022																		owl:Class
MONDO:0023007	biolink:NamedThing	Drachtman Weinblatt Sitarz syndrome	A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.	mondoexuq1wtf	marrow hypoplasia associated with congenital neurologic anomalies|Drachtman Weinblatt Sitarz syndrome											GARD:0001913|MESH:C535603|UMLS:C2930947														https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome				owl:Class
MONDO:0007885	biolink:NamedThing	Legg-Calve-Perthes disease	Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.	mondoexuq1wtf	LCPD|Legg-Calve-Perthes syndrome|Legg-CALVE-Perthes disease|aseptic necrosis of the capital femoral epiphysis|Calve - Perthes' disease|Perthes disease|osteochondritis deformans|Lcp|juvenile osteochond-hip/pelvis|Legg-Calve-Perthes disease|Legg-Calve-Perthes symptom|Perthe's disease|coxa plana|Legg-Perthes disease|juvenile osteochondrosis of hip and pelvis|pseudocoxalgia|Osteochondrosis of the capital femoral epiphysis|juvenile osteochondrosis of hip and/or pelvis|Pseudocoxalgia|osteochondritis of the capital femoral epiphysis|Legg-Calvé-Perthes disease|osteochondrosis of Legg-Calve-Perthes											MedDRA:10034735|Orphanet:2380|ICD10:M91.3|GARD:0006874|OMIM:150600|ICD10:M91.2|MESH:D007873|DOID:14415|EFO:0007341|ICD10:M91.1|UMLS:C0023234|NCIT:C34766|SCTID:15739006														https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease				owl:Class
MONDO:0032898	biolink:NamedThing	spermatogenic failure 43		mondoexuq1wtf	SPERMATOGENIC FAILURE 43|SPGF43											OMIM:618751																		owl:Class
MONDO:0006913	biolink:NamedThing	pneumococcal meningitis	An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)	mondoexuq1wtf	Streptococcus pneumoniae caused infectious meningitis|Streptococcus pneumoniae infectious meningitis											EFO:1001114|ICD9:320.1|ICD10:G00.1|SCTID:51169003|MedDRA:10035645|COHD:432879|MedDRA:10027253|UMLS:C0025295|Orphanet:55655|MESH:D008586																		owl:Class
MONDO:0001316	biolink:NamedThing	streptococcal meningitis	An infectious meningitis caused by infection with Streptococcus.	mondoexuq1wtf	Streptococcus caused infectious meningitis|Streptococcus infectious meningitis											DOID:11574|COHD:440390|ICD10:G00.2|SCTID:4510004|UMLS:C0154639|ICD9:320.2																		owl:Class
MONDO:0009464	biolink:NamedThing	immunodeficiency with defective T-cell response to interleukin 1		mondoexuq1wtf	immunodeficiency with defective T-cell response to interleukin 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to Interleukin type 1											UMLS:C1855735|OMIM:243110																		owl:Class
MONDO:0000525	biolink:NamedThing	cecum villous adenoma	A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	mondoexuq1wtf	caecum villous adenoma|cecum adenoma|caecum adenoma|villous adenoma of the cecum|cecal villous adenoma|cecum villous adenoma|villous adenoma of cecum											NCIT:C5520|EFO:1000155|UMLS:C1332869|DOID:0050910																		owl:Class
MONDO:0006930	biolink:NamedThing	pseudobulbar palsy	A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.	mondoexuq1wtf	pseudobulbar palsy|pseudobulbar paralysis											NCIT:C129934|MedDRA:10037114|UMLS:C0033790|SCTID:7379000|EFO:1001131|ICD9:335.23|DOID:12680|MESH:D020828|COHD:373190																		owl:Class
MONDO:0019370	biolink:NamedThing	vulvovaginal gingival syndrome		mondoexuq1wtf												ICD10:L43.8|Orphanet:83453|SCTID:707250009|UMLS:CN206058|UMLS:C3873472																		owl:Class
MONDO:0013759	biolink:NamedThing	MITF-related melanoma and renal cell carcinoma predisposition syndrome	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	mondoexuq1wtf	CMM8|melanoma, cutaneous malignant, susceptibility to, 8|melanoma, cutaneous malignant, susceptibility to, type 8|susceptibility to cutaneous malignant melanoma 8|melanoma and renal cell carcinoma, susceptibility to											OMIM:614456|Orphanet:293822																		owl:Class
MONDO:0056819	biolink:NamedThing	nasal cavity and paranasal sinus carcinoma	A carcinoma arising from the nasal cavity or paranasal sinuses.	mondoexuq1wtf	sinonasal carcinoma|paranasal sinus and nasal cavity cancer|nasal cavity and paranasal sinus carcinoma|nasal cavity and paranasal sinus cancer					Editor note: TODO add uberon term						UMLS:C1710095|GARD:0007650|NCIT:C54293																		owl:Class
MONDO:0100282	biolink:NamedThing	SC phocomelia syndrome		mondoexuq1wtf	hypomelia hypotrichosis facial hemangioma syndrome							http://orcid.org/0000-0001-5208-3432				OMIM:269000|DOID:0050536														https://github.com/monarch-initiative/mondo/issues/2553				owl:Class
MONDO:0100253	biolink:NamedThing	Roberts-SC phocomelia syndrome	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.	mondoexuq1wtf	Roberts-SC phocomelia syndrome|pseudothalidomide syndrome|long bone deficiencies associated with cleft lip-palate|RBS|phocomelia-pseudothalidomide syndrome							http://orcid.org/0000-0001-5208-3432				NCIT:C4681|OMIM:268300														https://github.com/monarch-initiative/mondo/issues/2553				owl:Class
MONDO:0020556	biolink:NamedThing	pleuropulmonary blastoma type 2	A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.	mondoexuq1wtf	type II pleuropulmonary blastoma											NCIT:C45627|SCTID:707672001|ICD10:C34.3|ICD10:C34.9|ICD10:C34.2|ICD10:C34.1|Orphanet:99934|ICD10:C34.8|UMLS:CN207458|ICD9:162.9																		owl:Class
MONDO:0006163	biolink:NamedThing	colorectal serrated adenocarcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.	mondoexuq1wtf	colorectal serrated adenocarcinoma											EFO:1000196|UMLS:C3272809|ICDO:8213/3|NCIT:C96485																		owl:Class
MONDO:0000259	biolink:NamedThing	asymptomatic dengue		mondoexuq1wtf												DOID:0050143																		owl:Class
MONDO:0023243	biolink:NamedThing	glass-chapman-hockley syndrome	The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.	mondoexuq1wtf	craniosynostosis brachydactyly|glass chapman hockley syndrome|craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis-dysmorphism-brachydactyly syndrome											SCTID:720814001|UMLS:C4303810|GARD:0002479|Orphanet:1535														https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome				owl:Class
MONDO:0042963	biolink:NamedThing	wandering spleen	A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.	mondoexuq1wtf	spleens, drifting|Ptoses, splenic|displaced spleen|spleen, displaced|Splenoptoses|drifting spleen|spleen, drifting|drifting spleens|spleens, wandering|wandering spleen|wandering spleens|displaced spleens|floating spleen|spleens, displaced|spleen, floating|ptosis, splenic|splenic Ptoses|splenoptosis|floating spleens|spleens, floating|spleen, wandering|splenic ptosis											UMLS:C0272414|NCIT:C85224|GARD:0000328|MEDGEN:75782|MESH:D050805|SCTID:191384005																		owl:Class
MONDO:0009155	biolink:NamedThing	EEM syndrome	EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).	mondoexuq1wtf	EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy|EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome											GARD:0002078|SCTID:720856002|OMIM:225280|MESH:C536190|Orphanet:1897|DOID:0111649|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome				owl:Class
MONDO:0044634	biolink:NamedThing	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		mondoexuq1wtf	retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome											OMIM:617763|Orphanet:494439|UMLS:C4540367																		owl:Class
MONDO:0020630	biolink:NamedThing	epileptic encephalopathy, infantile or early childhood, 1		mondoexuq1wtf	epileptic encephalopathy, infantile or early childhood, 1|IECEE1											OMIM:617711|DOID:0080472																		owl:Class
MONDO:0014656	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.	mondoexuq1wtf	PEOB2|RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|progressive external ophthalmoplegia, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2											DOID:0111515|UMLS:C4225312|OMIM:616479																		owl:Class
MONDO:0012762	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 2	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.	mondoexuq1wtf	ventricular tachycardia, catecholaminergic polymorphic, type 2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|CASQ2 catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia type 2|ventricular tachycardia, catecholaminergic polymorphic, 2|CPVT2|CVPT2|ventricular tachycardia, stress-induced polymorphic											NCIT:C148368|DOID:0060676|UMLS:C2677794|ICD10:I47.2|OMIM:611938																		owl:Class
MONDO:0001710	biolink:NamedThing	perforation of bile duct	A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.	mondoexuq1wtf												ICD9:576.3|COHD:192957|UMLS:C0156218|DOID:13409|ICD10:K83.2|SCTID:37439003																		owl:Class
MONDO:0015294	biolink:NamedThing	nephrogenic systemic fibrosis	Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.	mondoexuq1wtf	nephrogenic fibrosing dermopathy|NFD|NSF											NCIT:C84920|UMLS:C3888044|Orphanet:137617|EFO:1001814|ICD9:588.89|GARD:0009725|UMLS:C1619692|MedDRA:10067467|SCTID:424114000|MESH:D054989														https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis				owl:Class
MONDO:0002577	biolink:NamedThing	extrahepatic bile duct rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.	mondoexuq1wtf	bile duct rhabdomyosarcoma|rhabdomyosarcoma of the extrahepatic bile duct|rhabdomyosarcoma (disease) of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma|rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma (disease)|bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the bile duct											NCIT:C5860|UMLS:C2064434|DOID:3254																		owl:Class
MONDO:0008943	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 2	The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.	mondoexuq1wtf	cerebellar granular cell hypoplasia and mental retardation, congenital|cerebellar granular cell hypoplasia and intellectual disability, congenital|SCAR2|CPD3|cerebelloparenchymal disorder 3|autosomal recessive spinocerebellar ataxia type 2|autosomal recessive cerebelloparenchymal disorder type 3|CPD 3|spinocerebellar ataxia, autosomal recessive 2|cerebellar hypoplasia, nonprogressive Norman type|CPDIII|PMPCA autosomal recessive congenital cerebellar ataxia|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA											OMIM:213200|SCTID:715369006|UMLS:C1859298|GARD:0001199|Orphanet:1170|DOID:0080061|MESH:C565865|ICD10:G11.0																		owl:Class
MONDO:0018658	biolink:NamedThing	19p13.3 microduplication syndrome	19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.	mondoexuq1wtf	dup(19)(p13.13)											UMLS:CN237720|Orphanet:447980|ICD10:Q92.3																		owl:Class
MONDO:0005203	biolink:NamedThing	ischemia reperfusion injury	Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.	mondoexuq1wtf												EFO:0002687|MESH:D015427|PMID:10685060																		owl:Class
MONDO:0012402	biolink:NamedThing	opioid dependence, susceptibility to, 1		mondoexuq1wtf	Ods1|opioid dependence, susceptibility to, 1|opioid dependence, susceptibility to, type 1											OMIM:610064																		owl:Class
MONDO:0010669	biolink:NamedThing	syndactyly type 8	Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.	mondoexuq1wtf	FGF16 non-syndromic syndactyly|metacarpal 4-5 fusion|metacarpals 4 and 5 fusion|fusion of metacarpals 4 and 5|non-syndromic syndactyly caused by mutation in FGF16|MF4											GARD:0003559|OMIM:309630|Orphanet:2498|UMLS:C1839728|MESH:C564100|ICD10:Q70.0|SCTID:715442006														https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion				owl:Class
MONDO:0004377	biolink:NamedThing	pancreatic non-functioning delta cell tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.	mondoexuq1wtf	nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell tumor|non-functioning pancreatic Delta cell neoplasm|non-functional pancreatic Delta cell NET											DOID:7840|UMLS:C1335311|NCIT:C28333																		owl:Class
MONDO:0011126	biolink:NamedThing	acute insulin response		mondoexuq1wtf	acute insulin response|Air											COHD:19103572|OMIM:601676																		owl:Class
MONDO:0043206	biolink:NamedThing	trichostasis spinulosa	Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.	mondoexuq1wtf	elevated dark spiny papules on the face or trunk|trichostasis spinulosa											SCTID:21049007|MESH:C536558|UMLS:C0263487|GARD:0005269																		owl:Class
MONDO:0008991	biolink:NamedThing	Verloove Vanhorick-Brubakk syndrome	Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	mondoexuq1wtf	Verloove Vanhorick Brubakk syndrome|cleft lip-limb and heart malformations syndrome|cleft limb heart malformation syndrome|cleft-limb-heart malformation syndrome syndrome|Clh syndrome|cleft-limb-heart malformation syndrome											Orphanet:3429|ICD10:Q87.8|MESH:C536541|GARD:0005482|OMIM:215850|UMLS:C1859082|SCTID:764697003														https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome				owl:Class
MONDO:0020553	biolink:NamedThing	secondary pulmonary hemosiderosis	Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography	mondoexuq1wtf												SCTID:716712004|ICD10:E83.1+|ICD10:J99.8*|Orphanet:99930|UMLS:C4274326																		owl:Class
MONDO:0018776	biolink:NamedThing	demyelinating hereditary motor and sensory neuropathy		mondoexuq1wtf	demyelinating HMSN											Orphanet:476116																		owl:Class
MONDO:0019906	biolink:NamedThing	ring chromosome 11	Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	mondoexuq1wtf	r(11) syndrome|Ring 11|chromosome 11 ring|RC11|Ring chromosome 11 syndrome|r11|Ring chromosome type 11											EFO:0002849|ICD9:758.89|UMLS:C0265444|Orphanet:96175|GARD:0010846|SCTID:111310003|ICD10:Q93.2														https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11				owl:Class
MONDO:0017928	biolink:NamedThing	9p13 microdeletion syndrome	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	mondoexuq1wtf	monosomy 9p13|Del(9)(p13)											UMLS:CN204067|Orphanet:324313|ICD10:Q93.5|SCTID:764725008																		owl:Class
MONDO:0010764	biolink:NamedThing	deafness, Y-linked 1		mondoexuq1wtf	DFNY1|deafness, Y-linked 1											OMIM:400043|DOID:0111759|UMLS:C3888076																		owl:Class
MONDO:0033304	biolink:NamedThing	nonsyndromic deafness, Y-linked		mondoexuq1wtf												OMIMPS:400043																		owl:Class
MONDO:0011155	biolink:NamedThing	vacuolar Neuromyopathy		mondoexuq1wtf	muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy											UMLS:C1866139|OMIM:601846|MESH:C566617																		owl:Class
MONDO:0004871	biolink:NamedThing	perianal hematoma		mondoexuq1wtf	Thrombosed external hemorrhoids|external thrombosed haemorrhoids											SCTID:26373009|ICD9:455.4|COHD:201045|ICD10:K64.5|DOID:9745																		owl:Class
MONDO:0017893	biolink:NamedThing	inherited acute myeloid leukemia	An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	familial AML|Pure familial AML|Pure familial acute myeloid leukemia|hereditary acute myeloid leukemia|inherited AML											Orphanet:319465|UMLS:CN203946|ICD10:C92.0|SCTID:764940002																		owl:Class
MONDO:0023165	biolink:NamedThing	florid cystic endosalpingiosis of the uterus		mondoexuq1wtf	cystic endosalpingiosis of the uterus|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|intramural florid cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis											UMLS:C2931410|MESH:C537064|GARD:0000130														https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus				owl:Class
MONDO:0008473	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Maroteaux type	A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	mondoexuq1wtf	spondyloepiphyseal dysplasia, Maroteaux type|spondyloepimetaphyseal dysplasia, Maroteaux type|spondyloepiphyseal dysplasia Maroteaux type|brachyolmia Maroteaux type|SED, Maroteaux type|pseudo-Morquio syndrome, type 2|pseudo-Morquio syndrome type 2											OMIM:184095|Orphanet:263482|UMLS:CN202294|SCTID:719204007|GARD:0000994|DOID:0111553|ICD10:Q77.7														https://github.com/monarch-initiative/mondo/issues/2706				owl:Class
MONDO:0010162	biolink:NamedThing	tyrosinemia type III	Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.	mondoexuq1wtf	tyrosinemia, type 3|TYRSN3|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type III|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type 3|tyrosinemia, type III|tyrosinemia due to HPD deficiency|4-Hydroxyphenylpyruvic acid oxidase deficiency|4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|4-Hydroxyphenylpyruvate dioxygenase deficiency											SCTID:415764005|UMLS:C0268623|Orphanet:69723|OMIM:276710|ICD9:270.2|MedDRA:10069461|GARD:0010332|ICD10:E70.2|DOID:0050727														https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3				owl:Class
MONDO:0014089	biolink:NamedThing	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome		mondoexuq1wtf	CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|palmoplantar carcinoma, multiple self-healing|corneal intraepithelial dyskeratosis and ectodermal dysplasia|MSPC|palmoplantar carcinoma, multiple self-healing; MSPC											UMLS:CN204511|UMLS:C3808876|ICD10:Q82.8|Orphanet:352662|OMIM:616964|OMIM:615225																		owl:Class
MONDO:0020639	biolink:NamedThing	monosomy	A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.	mondoexuq1wtf	monosomy											MESH:D009006|NCIT:C3239																		owl:Class
MONDO:0004569	biolink:NamedThing	brachial plexus neuropathy from injury		mondoexuq1wtf	brachial plexus lesions|brachial plexus lesion											DOID:8443|ICD9:353.0|UMLS:C0006091																		owl:Class
MONDO:0017015	biolink:NamedThing	primary interstitial lung disease specific to childhood		mondoexuq1wtf	child|primary ILD specific to childhood|children's interstitial lung disease|primary interstitial lung disease specific to childhood											UMLS:CN202326|GARD:0010559|Orphanet:264665														https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease				owl:Class
MONDO:0007350	biolink:NamedThing	coloboma, ocular, autosomal dominant		mondoexuq1wtf	coloboma, Uveoretinal|coloboma of iris, choroid, and retina|coloboma, ocular, autosomal dominant											OMIM:120200																		owl:Class
MONDO:0002423	biolink:NamedThing	rectosigmoid junction neoplasm	A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	mondoexuq1wtf	tumor of the rectosigmoid junction|rectosigmoid junction tumor|rectosigmoid junction neoplasm (disease)|rectosigmoid tumor|neoplasm of rectosigmoid junction|rectosigmoid neoplasm|neoplasm of the rectosigmoid junction|tumor of rectosigmoid junction											UMLS:C0345873|DOID:2780|SCTID:126848003|NCIT:C4877																		owl:Class
MONDO:0006971	biolink:NamedThing	sigmoid neoplasm	Tumors or cancer of the sigmoid colon.	mondoexuq1wtf	neoplasm of sigmoid colon|sigmoid colon neoplasm|sigmoid colon tumor|tumor of sigmoid colon|sigmoid colon neoplasm (disease)					Editor note: NCIT uses rectosigmoid as a region						DOID:1896|ICD9:153.3|MESH:D012811|UMLS:C0037073|MedDRA:10026456|EFO:1001181|SCTID:126845000																		owl:Class
MONDO:0004249	biolink:NamedThing	pediatric supratentorial ependymoma	An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.	mondoexuq1wtf	childhood supratentorial ependymoma|pediatric cerebral ependymoma|supratentorial ependymoma|pediatric supratentorial ependymoblastoma											UMLS:C0278650|EFO:0008495|DOID:7502|NCIT:C9043																		owl:Class
MONDO:0001548	biolink:NamedThing	hepatic coma	A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)	mondoexuq1wtf	hepatocerebral intoxication											UMLS:C0019147|ICD9:070.42|SCTID:72836002|ICD10:K72.91|DOID:12550|COHD:377604																		owl:Class
MONDO:0001711	biolink:NamedThing	hepatic encephalopathy	Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.	mondoexuq1wtf	Hepatoencephalopathy|portal-systemic encephalopathy|encephalopathy, hepatic											COHD:4029488|GARD:0010452|MESH:D006501|ICD9:572.2|ICD10:K72|NCIT:C79596|SCTID:13920009|UMLS:C0019151|DOID:13413														https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy				owl:Class
MONDO:0015037	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type D	Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	mondoexuq1wtf												SCTID:715821000|UMLS:CN228903|Orphanet:100014|UMLS:C4274991|ICD10:Q04.3																		owl:Class
MONDO:0011706	biolink:NamedThing	Kufor-Rakeb syndrome	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	mondoexuq1wtf	ceroid lipofuscinosis, neuronal, 12|autosomal recessive Parkinson disease 9|Kufor-Rakeb syndrome|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|PARK9|Parkinson disease 9, autosomal recessive|Parkinson disease 9, autosomal recessive, juvenile-onset|KRS|Parkinson disease type 9|autosomal recessive juvenile onset Parkinson disease 9|KRPPD|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|park 9											GARD:0009174|MESH:C537177|ICD10:G23.0|DOID:0060556|Orphanet:306674|OMIM:606693																		owl:Class
MONDO:0006368	biolink:NamedThing	phosphaturic mesenchymal tumor	An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.	mondoexuq1wtf	phosphaturic mesenchymal tumor|phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor, mixed connective tissue type											NCIT:C67237|EFO:1000473|UMLS:C1831619																		owl:Class
MONDO:0003845	biolink:NamedThing	corpus callosum lipoma	A rare benign adipose tissue neoplasm of the corpus callosum.	mondoexuq1wtf	lipoma of corpus callosum|lipoma of the corpus callosum|corpus callosum lipoma											UMLS:C1333160|NCIT:C5438|DOID:6294																		owl:Class
MONDO:0011657	biolink:NamedThing	autosomal dominant nonsyndromic deafness 24	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.	mondoexuq1wtf	deafness, autosomal dominant 24|deafness, autosomal dominant nonsyndromic sensorineural 24|autosomal dominant nonsyndromic deafness type 24|DFNA24|autosomal dominant deafness 24|DFNA 24											DOID:0110554|UMLS:C1853451|GARD:0009166|OMIM:606282|ICD10:H90.3|MESH:C565239																		owl:Class
MONDO:0015041	biolink:NamedThing	myelodysplastic syndrome with excess blasts-2	A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)	mondoexuq1wtf	myelodysplastic syndrome with Excess blasts-2|MDS-EB-2|RAEB-II|RAEB-2|refractory anemia with excess blasts type 2											NCIT:C7168|UMLS:C1318551|Orphanet:100020|ICD10:D46.2																		owl:Class
MONDO:0002676	biolink:NamedThing	adult fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.	mondoexuq1wtf	adult fibrosarcoma (disease)|fibrosarcoma|adult fibrosarcoma|fibrosarcoma (disease) of adults											UMLS:C0278595|DOID:3516|NCIT:C7809																		owl:Class
MONDO:0005019	biolink:NamedThing	diffuse scleroderma	A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.	mondoexuq1wtf	diffuse systemic sclerosis|systemic sclerosis, diffuse											MESH:D045743|DOID:1580|EFO:0000404																		owl:Class
MONDO:0003070	biolink:NamedThing	axillary lymphadenitis	An infection of the lymph nodes in the axilla.	mondoexuq1wtf	axillary lymphadenitis|axillary adenitis|axilla lymphadenitis (disease)|lymphadenitis (disease) of axilla											UMLS:C0919797|NCIT:C27333|DOID:4640																		owl:Class
MONDO:0030072	biolink:NamedThing	developmental and epileptic encephalopathy, 88		mondoexuq1wtf	EIEE88|epileptic encephalopathy, early infantile, 88|DEE88|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88											OMIM:618959																		owl:Class
MONDO:0015050	biolink:NamedThing	esophageal duplication cyst	Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.	mondoexuq1wtf												Orphanet:100047|ICD10:Q39.8|SCTID:721161005																		owl:Class
MONDO:0018793	biolink:NamedThing	primary condylar hyperplasia		mondoexuq1wtf	type 1 condylar hyperplasia											Orphanet:477781																		owl:Class
MONDO:0001504	biolink:NamedThing	fetishism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish").	mondoexuq1wtf												SCTID:59174009|NCIT:C94353|ICD9:302.81|MESH:D005329|ICD10:F65.0|DOID:1235																		owl:Class
MONDO:0044767	biolink:NamedThing	childhood adrenal gland pheochromocytoma	A rare pheochromocytoma of the adrenal gland that occurs during childhood.	mondoexuq1wtf	childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood|malignant childhood adrenal gland pheochromocytoma											GARD:9368|GARD:0009368|UMLS:CN036354|DOID:0070325|GTR:AN0102113|NCIT:C118822																		owl:Class
MONDO:0013351	biolink:NamedThing	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	mondoexuq1wtf	postnatal progressive microcephaly, seizures, and brain atrophy|microcephaly, postnatal progressive, with seizures and brain atrophy											UMLS:C3150921|DOID:0111262|GARD:0010995|OMIM:613668|Orphanet:402364|ICD10:Q04.3																		owl:Class
MONDO:0015429	biolink:NamedThing	choroideremia-hypopituitarism syndrome		mondoexuq1wtf	CHM-hypopituitarism syndrome											UMLS:CN226680|Orphanet:1434																		owl:Class
MONDO:0033045	biolink:NamedThing	orofaciodigital syndrome 16		mondoexuq1wtf	Ofds 16|oral-Facial-digital syndrome, type 16|OFD16|orofaciodigital syndrome XVI											OMIM:617563|DOID:0080254|UMLS:CN317535																		owl:Class
MONDO:0056820	biolink:NamedThing	nasal cavity and paranasal sinus neoplasm	A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	mondoexuq1wtf	nasal cavity and paranasal sinus neoplasm					Editor note: TODO add uberon term						UMLS:C1334925|NCIT:C7336																		owl:Class
MONDO:0020561	biolink:NamedThing	myxoid/round cell liposarcoma	Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.	mondoexuq1wtf	MRCLS|myxoid/round-cell liposarcoma											ONCOTREE:MRLS|ICD10:C49.9|Orphanet:99967																		owl:Class
MONDO:0007591	biolink:NamedThing	facial hypertrichosis		mondoexuq1wtf	facial hypertrichosis (disease)|facial hypertrichosis		facial hypertrichosis (disease)									MESH:C565029|HP:0002219|OMIM:134000																		owl:Class
MONDO:0012187	biolink:NamedThing	Fanconi anemia complementation group J	Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.	mondoexuq1wtf	Fanconi anemia complementation group type J|Fanconi anemia, complementation group J|FANCJ|Fanconi Anemia, complementation group type J											UMLS:C1836860|MESH:C563801|DOID:0111097|OMIM:609054|NCIT:C129027																		owl:Class
MONDO:0003889	biolink:NamedThing	infiltrating bladder urothelial carcinoma, clear cell variant	An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.	mondoexuq1wtf	clear cell variant infiltrating bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma, clear cell variant											NCIT:C39827|DOID:6476|UMLS:C1512737																		owl:Class
MONDO:0019208	biolink:NamedThing	Bickerstaff brainstem encephalitis	Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).	mondoexuq1wtf												ICD10:G61.0|Orphanet:79138|ICD9:323.81|UMLS:C1960543|SCTID:427086003																		owl:Class
MONDO:0024183	biolink:NamedThing	wet beriberi		mondoexuq1wtf												ICD10CM:E51.12|DOID:0070317																		owl:Class
MONDO:0012846	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 6		mondoexuq1wtf	generalized epilepsy with febrile seizures plus, type 6|GEFSP6|Gefs+, type 6											OMIM:612279|DOID:0111300|UMLS:C2677078|MESH:C567371																		owl:Class
MONDO:0010131	biolink:NamedThing	thyroid hormone resistance, generalized, autosomal recessive	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.	mondoexuq1wtf	Refetoff syndrome|thyroid hormone unresponsiveness|thyroid hormone Resistance|Gthr|THRB|GRTH|thyroid hormone Resistance syndrome|thyroid hormone receptor BETA|thyroid hormone resistance, generalized, autosomal recessive											GARD:0000301|NCIT:C85191|HGNC:11799|OMIM:274300																		owl:Class
MONDO:0012069	biolink:NamedThing	keratoconus 3		mondoexuq1wtf	KTCN3|keratoconus 3											UMLS:C1837809|OMIM:608586|MESH:C563900																		owl:Class
MONDO:0054739	biolink:NamedThing	Fraser syndrome 3		mondoexuq1wtf	FRASRS3|Fraser syndrome 3											UMLS:C4540040|DOID:0111406|OMIM:617667																		owl:Class
MONDO:0001923	biolink:NamedThing	vitreoretinal dystrophy		mondoexuq1wtf	vitreoretinal dystrophies											UMLS:C0154863|ICD10:H35.51|DOID:14251|SCTID:79556007|ICD9:362.73|COHD:373772																		owl:Class
MONDO:0010748	biolink:NamedThing	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	mondoexuq1wtf	TKCR|Tkc|torticollis, keloids, cryptorchidism, and renal dysplasia|Tkcr syndrome|Goeminne syndrome|torticollis keloids cryptorchidism renal dysplasia											GARD:0005230|MESH:C536970|Orphanet:3341|OMIM:314300|UMLS:C1839129|ICD10:Q87.8																		owl:Class
MONDO:0003995	biolink:NamedThing	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	mondoexuq1wtf	mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva|childhood botryoid rhabdomyosarcoma of mammalian vulva|childhood sarcoma Botryoides of the vulva											DOID:6789|NCIT:C36098|UMLS:C1332946																		owl:Class
MONDO:0011575	biolink:NamedThing	cerebrooculonasal syndrome	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	mondoexuq1wtf	cerebrooculonasal syndrome											GARD:0003480|MESH:C565313|Orphanet:66625|SCTID:720855003|OMIM:605627|ICD10:Q87.0|UMLS:C1854108														https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome				owl:Class
MONDO:0008357	biolink:NamedThing	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	mondoexuq1wtf	Schmitt-Gillenwater-Kelly syndrome|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|radial hypoplasia, triphalangeal thumbs and hypospadias											MESH:C536262|OMIM:179250|ICD10:Q87.2|GARD:0004626|SCTID:716092007|Orphanet:2252																		owl:Class
MONDO:0014384	biolink:NamedThing	hypotrichosis 12	Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.	mondoexuq1wtf	RPL21 hypotrichosis|hypotrichosis caused by mutation in RPL21|hypotrichosis 12|HYPT12|hypotrichosis type 12|hypt12											DOID:0110709|UMLS:C4014563|OMIM:615885																		owl:Class
MONDO:0019714	biolink:NamedThing	non-syndromic polydactyly, syndactyly and/or hyperphalangy		mondoexuq1wtf	nonsyndromic polydactyly, syndactyly and/or hyperphalangy|isolated polydactyly, syndactyly and/or hyperphalangy											Orphanet:93458																		owl:Class
MONDO:0100316	biolink:NamedThing	long QT syndrome 1		mondoexuq1wtf	ventricular fibrillation with prolonged QT interval|long QT syndrome 1, acquired, susceptibility to|long QT syndrome type 1|long QT syndrome 1/2, digenic|LQT1|long QT syndrome 1							http://orcid.org/0000-0001-5208-3432				DOID:0110644|MedDRA:10039211|GARD:0003284|ICD10:I45.8|OMIM:192500|NCIT:C85049|SCTID:20852007																		owl:Class
MONDO:0002803	biolink:NamedThing	intestinal pseudo-obstruction	Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.	mondoexuq1wtf	hollow visceral myopathy|intestine pseudoobstruction|pseudo-obstruction of intestine|intestinal pseudoobstruction|intestinal pseudo-obstruction											SCTID:235825006|EFO:1000988|NCIT:C34733|MESH:D007418|DOID:3878|GARD:0006789|ICD9:569.89														https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction				owl:Class
MONDO:0015024	biolink:NamedThing	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.	mondoexuq1wtf	ECTD12|KDF1 ectodermal dysplasia syndrome|ectodermal dysplasia syndrome caused by mutation in KDF1|ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12											OMIM:617337|UMLS:C4310616|DOID:0111652																		owl:Class
MONDO:0017573	biolink:NamedThing	46,XX disorder of sex development-anorectal anomalies syndrome	46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	mondoexuq1wtf	female pseudohermaphroditism-anorectal anomalies syndrome											Orphanet:2973|ICD10:Q56.2|UMLS:CN203326																		owl:Class
MONDO:0400000	biolink:NamedThing	small intestinal bacterial overgrowth	The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.	mondoexuq1wtf	SIBO																													owl:Class
MONDO:0008502	biolink:NamedThing	sulfhemoglobinemia, congenital		mondoexuq1wtf	sulfhemoglobinemia, congenital											UMLS:C1861437|MESH:C566102|OMIM:185460																		owl:Class
MONDO:0006588	biolink:NamedThing	nonepidermolytic palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.	mondoexuq1wtf	tylosis|Thost-Unna syndrome|non-epidermolytic palmoplantar keratoderma|diffuse palmoplantar keratoderma, Bothnian type|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|NEPPK|Unna-Thost syndrome|diffuse nonepidermolytic palmomplantar keratoderma					Editor note: in ORDO this is AD but this leads to inconsistencies						EFO:1000743|Orphanet:2337|DOID:0050428|SCTID:716105001|ICD10:Q82.8																		owl:Class
MONDO:0007815	biolink:NamedThing	immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist		mondoexuq1wtf	immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist											MESH:C564135|UMLS:C1840265|OMIM:146840																		owl:Class
MONDO:0004680	biolink:NamedThing	primary thrombocytopenia		mondoexuq1wtf												ICD9:287.30|ICD9:287.3|COHD:441264|ICD10:D69.49|UMLS:C0701157|ICD9:287.39|DOID:8925|ICD10:D69.4|SCTID:267534000																		owl:Class
MONDO:0018935	biolink:NamedThing	hairy cell leukemia	Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.	mondoexuq1wtf	HCL-C|classic hairy cell leukemia|leukemic reticuloendotheliosis|hairy cell leukemia|HCL											NCIT:C7402|ICD10:C91.40|EFO:1000956|SCTID:118613001|ONCOTREE:HCL|MESH:D007943|DOID:285|MedDRA:10019053|GARD:0006560|Orphanet:58017|ICDO:9940/3|ICD9:202.4|ICD10:C91.4|UMLS:C0023443|MedDRA:10019055																		owl:Class
MONDO:0012582	biolink:NamedThing	interstitial lung disease due to ABCA3 deficiency	Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.	mondoexuq1wtf	surfactant metabolism dysfunction, pulmonary, type 3|surfactant metabolism dysfunction, pulmonary, 3|pulmonary alveolar proteinosis, congenital, 3|SMDP3|interstitial lung disease due to ABCA3 deficiency|interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency											Orphanet:440402|UMLS:C1970456|MESH:C567046|ICD10:J84.8|OMIM:610921																		owl:Class
MONDO:0007033	biolink:NamedThing	abducens nerve palsy	Paralysis of the abducens nerve.	mondoexuq1wtf	6th nerve palsy|sixth or abducens nerve palsy|VI nerve palsy|abducens nerve cranial nerve palsy|abducens nerve disease|abducens palsy|disorder of abducent nerve|cranial nerve VI palsy|VIth nerve disorder|sixth cranial nerve palsy|cranial mononeuropathy VI|abducent nerve paralysis|VIth nerve paralysis|cranial nerve palsy of abducens nerve|lateral rectus muscle innervation disorder|sixth nerve palsy|sixth cranial nerve disorder|lateral rectus muscle denervation paresis|abducens nerve weakness|sixth nerve paralysis											COHD:381572|GARD:0009482|ICD9:378.54|ICD10:H49.2|DOID:10865|SCTID:398963001|OMIM:100200|NCIT:C27592																		owl:Class
MONDO:0010914	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, severe infantile form	The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.	mondoexuq1wtf	Carnitine palmitoyl transferase deficiency type 2, severe infantile form|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|CPTII, severe infantile form|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|CPT2, hepatocardiomuscular form|CPT2, severe infantile form|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|CPT 2 deficiency, hepatic|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPTII, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|Carnitine Palmitoyltransferase 2 deficiency, infantile|Cpt2 deficiency, infantile											ICD10:E71.3|MESH:C563462|Orphanet:228305|UMLS:C1833511|OMIM:600649																		owl:Class
MONDO:0015515	biolink:NamedThing	carnitine palmitoyltransferase II deficiency	Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.	mondoexuq1wtf	CPT2|CPTII|late-onset carnitine palmitoyltransferase II deficiency|CPT-II|infantile carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase II (CPT II) deficiency|Carnitine palmitoyltransferase 2 deficiency|CPT II deficiency|Carnitine palmitoyltransferase deficiency type 2|lethal neonatal carnitine palmitoyltransferase II deficiency											DOID:0060235|ICD10:E71.3|ICD9:277.85|GARD:0001121|NCIT:C114766|MESH:C535589|SCTID:238002005|Orphanet:157|HGNC:2330|UMLS:C0342790														https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency				owl:Class
MONDO:0001809	biolink:NamedThing	adhesions of uterus		mondoexuq1wtf	intrauterine synechiae|band of uterus											UMLS:CN199257|DOID:13812|ICD9:621.5|SCTID:361115000																		owl:Class
MONDO:0013112	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 3	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.	mondoexuq1wtf	bronchiectasis caused by mutation in SCNN1G|BESC3|bronchiectasis with or without elevated sweat chloride 3|cystic fibrosis-like syndrome|bronchiectasis with or without elevated sweat chloride type 3|SCNN1G bronchiectasis											OMIM:613071|DOID:0080528|UMLS:C2751324|MESH:C567772																		owl:Class
MONDO:0022691	biolink:NamedThing	cerebello-olivary atrophy		mondoexuq1wtf	Cerebelloolivary atrophy											GARD:0001198														https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy				owl:Class
MONDO:0012371	biolink:NamedThing	Noonan syndrome 3	Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.	mondoexuq1wtf	KRAS gene related Noonan syndrome|Noonan syndrome 3|Noonan syndrome caused by mutation in KRAS|KRAS Noonan syndrome|NS3|Noonan syndrome type 3											MESH:C537847|OMIM:609942|UMLS:C1860991|GARD:0009885|DOID:0060581														https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3				owl:Class
MONDO:0018129	biolink:NamedThing	autosomal recessive cerebellar ataxia with late-onset spasticity	Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	mondoexuq1wtf	autosomal recessive cerebellar ataxia due to GBA2 deficiency											UMLS:CN204507|SCTID:763348005|Orphanet:352641|ICD10:G11.8																		owl:Class
MONDO:0002290	biolink:NamedThing	clitoris cancer	A malignant neoplasm that affects the clitoris.	mondoexuq1wtf	malignant clitoral tumor|cancer of clitoris|carcinoma of clitoris|malignant neoplasm of clitoris|clitoris cancer|malignant clitoris neoplasm|malignant tumor of clitoris|malignant neoplasm of the clitoris|malignant clitoris tumor|malignant clitoral neoplasm|malignant tumor of the clitoris|clitoral Ca											ICD10:C51.2|NCIT:C3557|SCTID:371979001|UMLS:C0153589|DOID:2401|ICD9:184.3																		owl:Class
MONDO:0022971	biolink:NamedThing	diabetes persistent mullerian ducts		mondoexuq1wtf												GARD:0001840														https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts				owl:Class
MONDO:0014052	biolink:NamedThing	congenital myasthenic syndrome 8	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.	mondoexuq1wtf	myasthenic syndrome, congenital, type 8|congenital myasthenic syndrome due to agrin deficiency|myasthenic syndrome, congenital, due to agrin deficiency|CMS8|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, 8|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome type 8											OMIM:615120|DOID:0110657|UMLS:C3808739																		owl:Class
MONDO:0010519	biolink:NamedThing	alpha thalassemia-X-linked intellectual disability syndrome	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.	mondoexuq1wtf	ATRX syndrome|ATR-X syndrome|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia X-linked intellectual disability syndrome|ATR, Nondeletion type|XLMR hypotonic face syndrome|Alpha-thalassemia x-linked intellectual disability syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|Alpha thalassemia/intellectual disability syndrome X-linked|alpha-thalassemia/mental retardation syndrome nondeletion type|Alpha thalassemia/mental retardation syndrome X-linked|Alpha-thalassemia-X-linked intellectual disability syndrome|ATR, nondeletion type|Alpha thalassemia X-linked mental retardation syndrome|ATRX|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|ALPHA-thalassemia/mental retardation syndrome, X-linked					Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases.						Orphanet:847|GARD:0005864|OMIM:301040|ICD10:D56.0|MESH:C538258|UMLS:C1845055|SCTID:715342005|DOID:0110030|NCIT:C118631														https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome				owl:Class
MONDO:0007172	biolink:NamedThing	atrial septal defect 1	An atrial heart septal defect type 1 associated with variation in the region 5p.	mondoexuq1wtf	ASD 1|atrial septal defect, primum type|atrial septal defect 1|atrial heart septal defect type 1|ASD1|ASD 2|atrial septal defect, secundum type											ICD10:Q21.1|UMLS:C1862389|DOID:0110106|OMIM:108800																		owl:Class
MONDO:0020485	biolink:NamedThing	King-Denborough syndrome	King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.	mondoexuq1wtf	anesthetic-induced malignant hyperpyrexia in children|King Denborough syndrome|Noonan like contracture myopathy hyperpyrexia|Kousseff Nichols syndrome|Koussef-Nichols syndrome											Orphanet:99741|MESH:C537504|MESH:C536883|ICD10:G71.2|SCTID:764957003|GARD:0008433|GARD:0008561														https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome				owl:Class
MONDO:0005424	biolink:NamedThing	elephantiasis	Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.	mondoexuq1wtf												MESH:D004604|EFO:0004711|DOID:4976|UMLS:C0013882																		owl:Class
MONDO:0008883	biolink:NamedThing	brachydactyly, type A2, with microcephaly		mondoexuq1wtf	brachydactyly, type A2, with microcephaly											UMLS:C1859393|MESH:C565894|OMIM:211369																		owl:Class
MONDO:0000913	biolink:NamedThing	hereditary spherocytosis type 2	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.	mondoexuq1wtf	hereditary spherocytosis type 2|hereditary spherocytosis 2|hereditary spherocytosis caused by mutation in SPTB|HS2|spherocytosis, type 2|spherocytosis, hereditary, 2|SPTB hereditary spherocytosis|SPH2											UMLS:C2674219|OMIM:616649|DOID:0110917																		owl:Class
MONDO:0001626	biolink:NamedThing	traumatic glaucoma		mondoexuq1wtf	glaucoma associated with ocular trauma											COHD:440396|SCTID:68241007|ICD9:365.65|DOID:13060|UMLS:C0339594																		owl:Class
MONDO:0060650	biolink:NamedThing	Leber congenital amaurosis with early-onset deafness		mondoexuq1wtf	LCAEOD|Leber congenital amaurosis with early-onset deafness											OMIM:617879|UMLS:CN807950																		owl:Class
MONDO:0100022	biolink:NamedThing	neonatal/infantile epilepsy syndrome	An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.	mondoexuq1wtf					2018-06-22 23:34:03+00:00	This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.						http://orcid.org/0000-0001-8486-0558														https://github.com/monarch-initiative/mondo/issues/1640				owl:Class
MONDO:0008707	biolink:NamedThing	acro-renal-mandibular syndrome	Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	mondoexuq1wtf	acro-renal-uterine-mandibular syndrome|split hand/split foot-mandibular hypoplasia syndrome|acrorenal-mandibular syndrome|acrorenal mandibular syndrome|split hand split foot mandibular hypoplasia|acrorenal-uterine-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia											OMIM:200980|SCTID:720414005|MESH:C535665|GARD:0000480|UMLS:C1860166|ICD10:Q87.8|Orphanet:958																		owl:Class
MONDO:0019028	biolink:NamedThing	amoebiasis due to Entamoeba histolytica	A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.	mondoexuq1wtf												ICD10:A06.2|ICD10:A06.3|ICD10:A06.6|ICD10:A06.0|ICD10:A06.1|UMLS:C2930799|ICD10:A06.8|Orphanet:67|ICD10:A06.5|ICD10:A06.7|ICD10:A06.9|ICD10:A06.4|MESH:C531613																		owl:Class
MONDO:0005473	biolink:NamedThing	temporomandibular joint disorder	Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.	mondoexuq1wtf	TMD											SCTID:41888000|EFO:0005279|NCIT:C63709|ICD9:524.60|MESH:D013705|COHD:74396|ICD9:524.69																		owl:Class
MONDO:0044907	biolink:NamedThing	metastatic squamous cell carcinoma	A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.	mondoexuq1wtf	Metastatic squamous cell carcinoma											SCTID:403906006|NCIT:C4104|UMLS:C0334246																		owl:Class
MONDO:0015421	biolink:NamedThing	orofaciodigital syndrome type 12	Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.	mondoexuq1wtf	orofaciodigital syndrome 12|oral facial digital syndrome 12|OFDS 12|Moran-Barroso syndrome|oral-facial-digital syndrome 12|oral facial digital syndrome type 12|OFD12|oral-facial-digital syndrome type 12|orofaciodigital syndrome XII											UMLS:C2932679|MESH:C548034|SCTID:763834000|ICD10:Q87.0|GARD:0010693|Orphanet:141327																		owl:Class
MONDO:0011980	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 1		mondoexuq1wtf	autoimmune thyroid disease, susceptibility to, type 1|autoimmune thyroid disease, susceptibility to, 1|AITD1											UMLS:C1842446|OMIM:608173																		owl:Class
MONDO:0013883	biolink:NamedThing	congenital myasthenic syndrome 13	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.	mondoexuq1wtf	DPAGT1 congenital myasthenic syndromes with glycosylation defect|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|CMS13|myasthenic syndrome, congenital, 13|myasthenic syndrome, congenital, with tubular aggregates 2|myasthenic syndrome, congenital, type 13|congenital myasthenic syndrome 13 with tubular aggregates|congenital myasthenic syndrome type 13|congenital myasthenic syndrome with tubular aggregates 2|CMSTA2											UMLS:C3553645|DOID:0110676|OMIM:614750																		owl:Class
MONDO:0016224	biolink:NamedThing	autosomal dominant proximal spinal muscular atrophy	Autosomal dominant form of proximal spinal muscular atrophy.	mondoexuq1wtf	proximal spinal muscular atrophy, autosomal dominant											Orphanet:211037|ICD10:G12.1|UMLS:CN229044																		owl:Class
MONDO:0019570	biolink:NamedThing	Cockayne syndrome type 2	Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.	mondoexuq1wtf	Cockayne syndrome type II|CSB|Cockayne syndrome type B|Cockayne syndrome type 2|Cockayne syndrome B											UMLS:C0751038|ICD10:Q87.8|GARD:0001420|OMIM:133540|Orphanet:90322|NCIT:C135726																		owl:Class
MONDO:0020549	biolink:NamedThing	invasive hydatidiform mole	A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.	mondoexuq1wtf	IHM|chorioadenoma|invasive gestational trophoblastic neoplasm|invasive hydatidiform mole|chorioadenoma Destruens|chorioadenoma destruens|invasive hydatidiform Mole|invasive Mole											ONCOTREE:IHM|Orphanet:99925|MESH:D002820|NCIT:C6985|SCTID:416669000|ICDO:9100/1|ICD10:D39.2|UMLS:C0008493																		owl:Class
MONDO:0016094	biolink:NamedThing	vaginal germ cell malignant tumor	A malignant germ cell tumor that involves the vagina.	mondoexuq1wtf	vaginal germ cell cancer|malignant germ cell tumor of the vagina|vagina malignant germ cell tumor											UMLS:CN200860|ICD10:C52|Orphanet:206489																		owl:Class
MONDO:0002274	biolink:NamedThing	monoclonal paraproteinemia disease	A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.	mondoexuq1wtf	paraproteinaemia|monoclonal paraproteinemia|monoclonal paraproteinaemia											DOID:2346|COHD:441532|SCTID:267440005|UMLS:C0026471|HP:0031047|NCIT:C35878|ICD9:273.1																		owl:Class
MONDO:0009803	biolink:NamedThing	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.	mondoexuq1wtf	osteogenesis imperfecta congenita, microcephaly, and cataracts											ICD10:Q78.0|UMLS:C1850184|MESH:C537558|Orphanet:2772|OMIM:259410																		owl:Class
MONDO:0019753	biolink:NamedThing	localized Castleman disease	Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.	mondoexuq1wtf	Unicentric angiofollicular ganglionic hyperplasia|localized Angiofollicular lymphoid hyperplasia|Unicentric Castleman disease|Unicentric angiofollicular lymph hyperplasia|localized Castleman disease											UMLS:C3898582|GARD:0006005|UMLS:CN206685|NCIT:C115200|Orphanet:93685|ICD10:D36.0																		owl:Class
MONDO:0006905	biolink:NamedThing	pigmented spindle cell nevus	A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.	mondoexuq1wtf	spindle cell Nevus of Reed											NCIT:C4751|SCTID:254812004|MESH:D018331|EFO:1001105																		owl:Class
MONDO:0008304	biolink:NamedThing	premature chromatid separation trait		mondoexuq1wtf	premature chromatid separation trait|total premature chromatid separation trait|PCS											UMLS:C1864389|EFO:0009077|OMIM:176430																		owl:Class
MONDO:0023020	biolink:NamedThing	dwarfism deafness retinitis pigmentosa		mondoexuq1wtf												GARD:0001985														https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa				owl:Class
MONDO:0009918	biolink:NamedThing	fundus dystrophy, pseudoinflammatory, recessive form		mondoexuq1wtf	fundus dystrophy, pseudoinflammatory, recessive form|Pfd, Finnish type|fundus dystrophy, pseudoinflammatory recessive form|pseudoinflammatory fundus dystrophy|Pfd, Lavia type|PFD Lavia type											OMIM:264420|UMLS:C1849694|MESH:C535828|GARD:0009633																		owl:Class
MONDO:0016549	biolink:NamedThing	primary megaureter, adult-onset form		mondoexuq1wtf												Orphanet:238642|UMLS:CN201632|ICD10:Q62.2																		owl:Class
MONDO:0030909	biolink:NamedThing	intellectual disability, X-linked, syndromic, Houge type		mondoexuq1wtf	syndromic X-linked mental retardation Hough type|intellectual disability, X-linked, syndromic, Houge type|syndromic X-linked intellectual disability Hough type|intellectual disability, X-linked, syndromic, HOUGE type|mental retardation, X-linked, syndromic, Houge type|MRXSHG|mental retardation, X-linked, syndromic, HOUGE type											OMIM:301008|UMLS:CN679647|DOID:0080242																		owl:Class
MONDO:0031013	biolink:NamedThing	autoimmune optic neuritis	An autoimmune form of optic neuritis.	mondoexuq1wtf												DOID:0040089																		owl:Class
MONDO:0014043	biolink:NamedThing	microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	mondoexuq1wtf	microcephaly 10, primary, autosomal recessive|primary autosomal recessive microcephaly 10|MCPH10|microcephalic primordial dwarfism, Walsh type											SCTID:724141003|DOID:0070294|Orphanet:329228|UMLS:C4510378|UMLS:C3554499|OMIM:615095|ICD10:Q87.1																		owl:Class
MONDO:0017875	biolink:NamedThing	Bolivian hemorrhagic fever	Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.	mondoexuq1wtf	Machupo hemorrhagic fever											ICD10:A96.1|Orphanet:319229|MedDRA:10005932|SCTID:67247008|DOID:0050195|UMLS:C0282192																		owl:Class
MONDO:0005835	biolink:NamedThing	Lynch syndrome	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.	mondoexuq1wtf	hereditary nonpolyposis colorectal neoplasm|hereditary defective mismatch repair syndrome|hereditary non-polyposis colon cancer type 1|HNPCC - hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary nonpolyposis colorectal cancer|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Hereditary colorectal endometrial cancer syndrome					Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria.						MedDRA:10051981|SCTID:716318002|Orphanet:144|NCIT:C8494|DOID:3883|ICD10:D48.9|EFO:0007354														https://github.com/monarch-initiative/mondo/issues/1673|https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc				owl:Class
MONDO:0020835	biolink:NamedThing	methemoglobinemia, alpha type		mondoexuq1wtf	methemoglobinemia, alpha type											OMIM:617973																		owl:Class
MONDO:0017008	biolink:NamedThing	partial duplication of chromosome X		mondoexuq1wtf	partial duplication of chromosome type X|partial trisomy of chromosome X											Orphanet:263768|ICD10:Q99.8																		owl:Class
MONDO:0014584	biolink:NamedThing	congenital myasthenic syndrome 3B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.	mondoexuq1wtf	myasthenic syndrome, congenital, 3B, FAST-channel|CMS3B|congenital myasthenic syndrome 3B, fast-channel|congenital myasthenic syndrome type 3B											OMIM:616322|UMLS:C4225371|DOID:0110665																		owl:Class
MONDO:0012076	biolink:NamedThing	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia		mondoexuq1wtf	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia											OMIM:608624|UMLS:C1837730|MESH:C563896																		owl:Class
MONDO:0012443	biolink:NamedThing	aneurysm, intracranial berry, 4		mondoexuq1wtf	aneurysm, intracranial BERRY, 4|ANIB4											OMIM:610213|MESH:C565700|UMLS:C1857749																		owl:Class
MONDO:0019802	biolink:NamedThing	secondary short bowel syndrome	Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	mondoexuq1wtf												ICD10:K91.2|UMLS:CN206757|Orphanet:95427																		owl:Class
MONDO:0001313	biolink:NamedThing	acute allergic serous otitis media	A acute serous otitis media caused by an allergen.	mondoexuq1wtf												UMLS:C0155418|DOID:11558|COHD:373784|SCTID:59275002|ICD9:381.04																		owl:Class
MONDO:0021202	biolink:NamedThing	allergic otitis media	A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.	mondoexuq1wtf	allergic otitis media (disease)|allergic form of otitis media (disease)											SCTID:26169004|UMLS:C0271447																		owl:Class
MONDO:0011428	biolink:NamedThing	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.	mondoexuq1wtf	TP63 EEC syndrome|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|EEC syndrome caused by mutation in TP63|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|EEC3|EEC syndrome 3											ICD10:Q82.4|OMIM:604292|DOID:0060783|MESH:C565799																		owl:Class
MONDO:0014622	biolink:NamedThing	isolated focal non-epidermolytic palmoplantar keratoderma		mondoexuq1wtf	FNEPPK2|palmoplantar keratoderma, nonepidermolytic, focal type 2|palmoplantar keratoderma, nonepidermolytic, focal 2											Orphanet:448264|OMIM:616400|UMLS:C4225339																		owl:Class
MONDO:0012170	biolink:NamedThing	autosomal recessive nonsyndromic deafness 36	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.	mondoexuq1wtf	ESPN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 36, with or without vestibular involvement|autosomal recessive deafness 36|deafness, autosomal dominant, without vestibular involvement|autosomal recessive nonsyndromic deafness type 36|DFNB36|autosomal recessive nonsyndromic deafness caused by mutation in ESPN											OMIM:609006|ICD10:H90.3|MESH:C563815|DOID:0110494																		owl:Class
MONDO:0013686	biolink:NamedThing	distal myopathy, Tateyama type	Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.	mondoexuq1wtf	MPDT|myopathy, distal, Tateyama type											DOID:0111191|OMIM:614321|SCTID:711265009|Orphanet:488650|UMLS:C3280443																		owl:Class
MONDO:0015131	biolink:NamedThing	congenital combined immunodeficiency	A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.	mondoexuq1wtf	combined T cell and B cell immunodeficiency|combined T and B cell immunodeficiency|X-linked combined immunodeficiency|congenital combined immunodeficiency|combined immunodeficiency											ICD10:D81.1|Orphanet:101972|ICD10:D81.8|DOID:628|ICD10:D81.0|ICD10:D81.9|UMLS:C0494261|ICD10:D81.7|ICD10:D81.3|ICD10:D81.2|ICD10:D81.4|ICD9:279.2|ICD10:D81.5|ICD10:D81.6|NCIT:C27871|ICD10:D81																		owl:Class
MONDO:0003896	biolink:NamedThing	breast capillary hemangioma	A capillary hemangioma arising from the breast.	mondoexuq1wtf	capillary angioma of breast|capillary angioma of the breast|capillary hemangioma of breast|breast capillary hemangioma|capillary hemangioma of the breast|breast capillary angioma											NCIT:C5210|DOID:6491|UMLS:C1332619																		owl:Class
MONDO:0010486	biolink:NamedThing	Olmsted syndrome, X-linked		mondoexuq1wtf	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked											OMIM:300918|UMLS:C3806745																		owl:Class
MONDO:0019763	biolink:NamedThing	laryngotracheoesophageal cleft type 3	Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.	mondoexuq1wtf	laryngo-tracheo-esophageal cleft type 3|LTEC III|LTEC3											Orphanet:93940|UMLS:CN206698|ICD10:Q32.1																		owl:Class
MONDO:0013736	biolink:NamedThing	myopathy, centronuclear, 3	Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene.	mondoexuq1wtf	myopathy, centronuclear, 3|CNM3|myopathy, centronuclear, type 3|autosomal dominant centronuclear myopathy caused by mutation in MYF6|MYF6 autosomal dominant centronuclear myopathy											UMLS:C3280703|OMIM:614408																		owl:Class
MONDO:0008768	biolink:NamedThing	neuronal ceroid lipofuscinosis 4A	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.	mondoexuq1wtf	Kuf's disease type A|adult neuronal ceroid lipofuscinosis 4A|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN4A disease|Kuf's disease, autosomal recessive|CLN4A|CLN6 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 4A|neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive											DOID:0110730|ICD10:E75.4|Orphanet:228340|GARD:0006845|OMIM:204300																		owl:Class
MONDO:0020370	biolink:NamedThing	Cogan-Reese syndrome	Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.	mondoexuq1wtf												DOID:0060217|MedDRA:10059200|GARD:0006125|UMLS:C1168173|Orphanet:98980|NCIT:C84644|ICD10:H21.2|SCTID:404633004														https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome				owl:Class
MONDO:0007353	biolink:NamedThing	coloboma of macula-brachydactyly type B syndrome	Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.	mondoexuq1wtf	Sorsby syndrome|apical dystrophy|coloboma of macula with type B brachydactyly											UMLS:C1852752|OMIM:120400|ICD10:Q87.1|Orphanet:1471|SCTID:717785002|GARD:0001437|MESH:C535969																		owl:Class
MONDO:0019680	biolink:NamedThing	genochondromatosis type 2	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	mondoexuq1wtf												UMLS:C4511481|SCTID:725904009|UMLS:CN206604|Orphanet:93398																		owl:Class
MONDO:0007722	biolink:NamedThing	heterochromia iridis		mondoexuq1wtf	heterochromia iridis (disease)|heterochromia iridis		heterochromia iridis (disease)									HP:0001100|MESH:C538115|OMIM:142500																		owl:Class
MONDO:0004459	biolink:NamedThing	bladder hepatoid adenocarcinoma	A hepatoid adenocarcinoma that involves the urinary bladder.	mondoexuq1wtf	bladder hepatoid adenocarcinoma											NCIT:C39838|DOID:8097|UMLS:C1511189																		owl:Class
MONDO:0006243	biolink:NamedThing	hepatoid adenocarcinoma	An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.	mondoexuq1wtf	hepatoid carcinoma|hepatoid adenocarcinoma											NCIT:C66950|ICDO:8576/3|DOID:0060534|UMLS:C1266090|EFO:1000293																		owl:Class
MONDO:0010662	biolink:NamedThing	paraplegia-intellectual disability-hyperkeratosis syndrome	Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.	mondoexuq1wtf	mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome											ICD10:G82.1|UMLS:C2745996|MESH:C537058|GARD:0002344|OMIM:309560|Orphanet:2824																		owl:Class
MONDO:0000498	biolink:NamedThing	arteritic anterior ischemic optic neuropathy	An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)	mondoexuq1wtf	arteritic aion											SCTID:733506009|UMLS:C2242711|DOID:0050863																		owl:Class
MONDO:0011002	biolink:NamedThing	neuropathy, hereditary motor and sensory, type 6A	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease, type 6A|neuropathy, hereditary motor and sensory, type 6|peripheral neuropathy and optic atrophy|Charcot-Marie-Tooth disease, type 6|HMSN 6A|MFN2 hereditary motor and sensory neuropathy type 6|HMSN6A|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|neuropathy, hereditary motor and sensory, type VIA											OMIM:601152																		owl:Class
MONDO:0009810	biolink:NamedThing	autosomal recessive distal osteolysis syndrome	Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|distal osteolysis-short stature-intellectual disability syndrome|osteolysis syndrome, recessive|osteolysis syndrome recessive|Petit-Fryns syndrome											GARD:0004144|GARD:0004299|UMLS:C1850143|SCTID:715487005|MESH:C536052|Orphanet:2776|UMLS:C4275111|OMIM:259610																		owl:Class
MONDO:0010786	biolink:NamedThing	chronic diarrhea with villous atrophy	Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	mondoexuq1wtf	diarrhea, chronic, with villous atrophy											ICD10:K59.1|MESH:C564019|Orphanet:1670|OMIM:520100|UMLS:C1838912																		owl:Class
MONDO:0016190	biolink:NamedThing	qualitative or quantitative defects of protein ZASP		mondoexuq1wtf												Orphanet:209050																		owl:Class
MONDO:0016534	biolink:NamedThing	infundibulo-neurohypophysitis		mondoexuq1wtf												Orphanet:238305|ICD10:E23.6																		owl:Class
MONDO:0019835	biolink:NamedThing	primary hypophysitis	Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).	mondoexuq1wtf	lymphocytic hypophysitis|autoimmune hypophysitis											Orphanet:95506|NCIT:C132055|ICD10:E23.6|MESH:D000069281|ICD9:253.8|SCTID:237706000|ICD9:279.49																		owl:Class
MONDO:0012417	biolink:NamedThing	heart-hand syndrome, Slovenian type	A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	mondoexuq1wtf	Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|atriodigital dysplasia, Slovenian type|heart-hand syndrome, Slovenian type											UMLS:C1857829|Orphanet:168796|ICD10:Q87.2|GARD:0009846|MESH:C535852|OMIM:610140|SCTID:721014007														https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type				owl:Class
MONDO:0016552	biolink:NamedThing	congenital primary megaureter, nonrefluxing and unobstructed form		mondoexuq1wtf												ICD10:Q62.2|Orphanet:238654																		owl:Class
MONDO:0004442	biolink:NamedThing	testis polyembryoma	A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.	mondoexuq1wtf	testicular polyembryoma|polyembryoma of the testis|polyembryoma of testis											UMLS:C1514200|DOID:8042|NCIT:C40962																		owl:Class
MONDO:0011490	biolink:NamedThing	diffuse panbronchiolitis	Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis	mondoexuq1wtf	panbronchiolitis, diffuse|PBLT|DPb											Orphanet:171700|UMLS:C0878555|MESH:C536174|OMIM:604809|MedDRA:10062952|SCTID:430476004|GARD:0008526|ICD10:J44.8|ICD9:491.8														https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis				owl:Class
MONDO:0015312	biolink:NamedThing	choanal atresia, unilateral	Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.	mondoexuq1wtf												UMLS:CN199280|ICD10:Q30.0|Orphanet:137917																		owl:Class
MONDO:0005386	biolink:NamedThing	peripheral arterial disease	A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.	mondoexuq1wtf	peripheral artery disease|peripheral arterial disorder|pad											SCTID:399957001|NCIT:C84496|EFO:0004265|MESH:D058729|DOID:0050830|ICD9:443.81																		owl:Class
MONDO:0001183	biolink:NamedThing	contact lens corneal edema		mondoexuq1wtf												ICD9:371.24|DOID:11034|SCTID:49362009|UMLS:C0474442																		owl:Class
MONDO:0013763	biolink:NamedThing	Joubert syndrome 15	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.	mondoexuq1wtf	JBTS15|Joubert syndrome type 15|CEP41 Joubert syndrome|Joubert syndrome caused by mutation in CEP41|Joubert syndrome 15|Joubert syndrome 9/15, digenic|Joubert syndrome 12/15, digenic											OMIM:614464|UMLS:C3280897|DOID:0110984																		owl:Class
MONDO:0012679	biolink:NamedThing	autosomal recessive osteopetrosis 6	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.	mondoexuq1wtf	osteopetrosis autosomal recessive intermediate form|autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive, Intermediate form|OPTB6|intermediate osteopetrosis|osteopetrosis autosomal recessive 6|osteopetrosis (disease) caused by mutation in PLEKHM1|autosomal recessive osteopetrosis type 6|osteopetrosis, autosomal recessive type 6|osteopetrosis, autosomal recessive 6|autosomal recessive osteopetrosis intermediate form|PLEKHM1 osteopetrosis (disease)											DOID:0110945|Orphanet:210110|GARD:0004156|UMLS:C1969093|OMIM:611497|MESH:C566931|ICD10:Q78.2														https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6				owl:Class
MONDO:0016782	biolink:NamedThing	paternal 14q32.2 hypomethylation syndrome		mondoexuq1wtf												Orphanet:254531|UMLS:CN202038																		owl:Class
MONDO:0016528	biolink:NamedThing	limb body wall complex	Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	mondoexuq1wtf	LBWC syndrome|umbilical cord, short|short umbilical cord syndrome|limb-body wall complex|aplasia of the cord|Cyllosomas|body stalk anomaly											UMLS:C4274839|SCTID:716106000|UMLS:CN201594|GARD:0003251|Orphanet:2369|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex				owl:Class
MONDO:0019678	biolink:NamedThing	brachydactyly type A5	Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.	mondoexuq1wtf	brachydactyly with absence of middle phalanges and hypoplastic nails|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia											GARD:0000982|UMLS:C1862138|MESH:C537091|SCTID:720570007|ICD10:Q73.8|Orphanet:93389														https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5				owl:Class
MONDO:0000383	biolink:NamedThing	benign reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.	mondoexuq1wtf	reproductive organ benign neoplasm|benign reproductive system neoplasm											NCIT:C7617|UMLS:C1332536|DOID:0050622																		owl:Class
MONDO:0016100	biolink:NamedThing	rippling muscle disease with myasthenia gravis		mondoexuq1wtf	acquired rippling muscle disease|immune-mediated rippling muscle disease|Rmd-MG											Orphanet:206575|ICD10:G70.8|UMLS:CN200870																		owl:Class
MONDO:0019976	biolink:NamedThing	dementia pugilistica	Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.	mondoexuq1wtf	Boxer's dementia|punch-drunk syndrome|chronic traumatic encephalopathy											UMLS:CN206907|ICD10:F01.8|MESH:D020208|SCTID:230283005|Orphanet:97353																		owl:Class
MONDO:0023050	biolink:NamedThing	ectrodactyly cardiopathy dysmorphism		mondoexuq1wtf	ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome											GARD:0002063|MESH:C536187|UMLS:C2931127														https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism				owl:Class
MONDO:0022578	biolink:NamedThing	childhood bladder carcinoma	A rare carcinoma of the bladder that occurs during childhood.	mondoexuq1wtf	bladder cancer childhood|childhood bladder cancer|bladder carcinoma, childhood|bladder cancer|bladder cancer, childhood|childhood bladder carcinoma											NCIT:C118816|GARD:0009305|UMLS:C3899675														https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood				owl:Class
MONDO:0014003	biolink:NamedThing	developmental and epileptic encephalopathy, 15		mondoexuq1wtf	epileptic encephalopathy, early infantile, type 15|epileptic encephalopathy, early infantile, 15|EIEE15|DEE15											OMIM:615006|DOID:0080414|UMLS:C3554316																		owl:Class
MONDO:0022572	biolink:NamedThing	bilateral renal agenesis dominant type		mondoexuq1wtf												GARD:0000885														https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type				owl:Class
MONDO:0015986	biolink:NamedThing	bilateral renal agenesis	Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.	mondoexuq1wtf	renal agenesis, bilateral|bilateral renal aplasia											DOID:0080200|Orphanet:1848|NCIT:C101219|ICD10:Q60.1																		owl:Class
MONDO:0011824	biolink:NamedThing	autism, susceptibility to, 8		mondoexuq1wtf	AUTS8|AUTS2|autism, susceptibility to, 8|AUTS2, formerly											OMIM:607373																		owl:Class
MONDO:0006839	biolink:NamedThing	Lutembacher syndrome	A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.	mondoexuq1wtf	Lutembachers syndrome|Lutembacher's syndrome|syndrome, Lutembacher|Lutembacher syndrome|Lutembacher's anomaly|syndrome, Lutembacher's											EFO:1001024|MESH:D008185|SCTID:204319006|UMLS:C0024164|DOID:1998																		owl:Class
MONDO:0018472	biolink:NamedThing	familial isolated trichomegaly	Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.	mondoexuq1wtf												SCTID:764523004|Orphanet:411788|DOID:0111566																		owl:Class
MONDO:0011193	biolink:NamedThing	cone dystrophy 3	Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.	mondoexuq1wtf	cone dystrophy 3|cone dystrophy type 3|retinal cone dystrophy|GUCA1A cone dystrophy|cone dystrophy caused by mutation in GUCA1A|COD3|cone-rod dystrophy 14											UMLS:C1865869|DOID:0080314|OMIM:602093																		owl:Class
MONDO:0006306	biolink:NamedThing	mixed lobular and ductal breast carcinoma	A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.	mondoexuq1wtf	mixed lobular and ductal breast carcinoma|mixed lobular and ductal carcinoma of breast|mixed lobular and ductal carcinoma|mixed lobular and ductal carcinoma of the breast|mixed ductal and lobular carcinoma of the breast|breast mixed ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma|mixed ductal and lobular carcinoma of breast|ductal and lobular carcinoma											ONCOTREE:MDLC|UMLS:C0334384|SCTID:444604002|NCIT:C5160|ICD9:174.8|EFO:1000382																		owl:Class
MONDO:0020315	biolink:NamedThing	unclassified myelodysplastic syndrome	Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance.	mondoexuq1wtf												Orphanet:98827|UMLS:CN207136|ICD10:D46.7																		owl:Class
MONDO:0019453	biolink:NamedThing	refractory cytopenia with multilineage dysplasia	Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.	mondoexuq1wtf	RCMD|myelodysplastic syndrome with multilineage dysplasia|refractory cytopenia with multilineage dysplasia|MDS-MLD											Orphanet:86836|SCTID:415285009|ICD9:238.72|ICDO:9985/3|MedDRA:10067959|ICD10:D46.7|UMLS:C0796466|NCIT:C8574|ICD10:D46.A																		owl:Class
MONDO:0014366	biolink:NamedThing	spermatogenic failure 14	Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.	mondoexuq1wtf	azoospermia caused by mutation in ZMYND15|SPGF14|ZMYND15 azoospermia|spermatogenic failure type 14|spermatogenic failure 14											OMIM:615842|DOID:0070179|UMLS:C4014454																		owl:Class
MONDO:0015592	biolink:NamedThing	limbic encephalitis with LGI1 antibodies	Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.	mondoexuq1wtf	limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies											ICD10:G13.1|ICD10:G04.8|Orphanet:163908|SCTID:763794005																		owl:Class
MONDO:0004895	biolink:NamedThing	accommodative esotropia		mondoexuq1wtf												COHD:381027|UMLS:C0155336|SCTID:419494007|ICD10:H50.43|DOID:9839|ICD9:378.35																		owl:Class
MONDO:0004896	biolink:NamedThing	esotropia	A form of strabismus in which one or both eyes are deviated medially.	mondoexuq1wtf	internal strabismus|crossed eyes|convergence in manifest squint											SCTID:16596007|GARD:0008235|NCIT:C34596|DOID:9840|MESH:D004948|ICD10:H50.0|UMLS:C0014877|ICD9:378.00|COHD:377877|ICD10:H50.00|ICD9:378.0														https://rarediseases.info.nih.gov/diseases/8235/esotropia				owl:Class
MONDO:0007971	biolink:NamedThing	delayed membranous cranial ossification	Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.	mondoexuq1wtf	Gonzales-del Angel syndrome|membranous cranial ossification, delayed											GARD:0001727|UMLS:C1835030|MESH:C563592|OMIM:155980|SCTID:715524004|ICD10:Q75.8|Orphanet:3034														https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification				owl:Class
MONDO:0019365	biolink:NamedThing	scrub typhus	Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.	mondoexuq1wtf	Mite-borne typhus|tropical typhus|Japanese river fever|scrub mite-borne typhus|Kedani fever|tsutsugamushi disease|typhus fever due to Rickettsia tsutsugamushi|tsutsugamushi fever|chigger-borne typhus|chigger-borne rickettsiosis|tsutsugamushi|scrub (mite-borne) typhus|Mite-borne rickettsiosis											ICD9:081.2|DOID:13371|Orphanet:83317|ICD10:A75.3|EFO:0007480|UMLS:C0036472|MedDRA:10039766|MESH:D012612|SCTID:271425001																		owl:Class
MONDO:0007902	biolink:NamedThing	lichen planus, familial	An instance of lichen planus that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary lichen planus|lichen planus, familial											UMLS:C1835402|OMIM:151620|MESH:C563624																		owl:Class
MONDO:0010424	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 4		mondoexuq1wtf	pulmonary alveolar proteinosis, congenital, 4|Csf2Ra deficiency|SMDP4|surfactant metabolism dysfunction, pulmonary, type 4|surfactant metabolism dysfunction, pulmonary, 4|Pap due to Csf2Ra deficiency											UMLS:C2677877|OMIM:300770|MESH:C567461																		owl:Class
MONDO:0020757	biolink:NamedThing	sporadic hemiplegic migraine	A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.	mondoexuq1wtf	sporadic hemiplegic migraine											NCIT:C117011																		owl:Class
MONDO:0018925	biolink:NamedThing	familial or sporadic hemiplegic migraine	Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).	mondoexuq1wtf	hemiplegic migraine											ICD9:346.30|Orphanet:569|ICD10:G43.1|SCTID:59292006|GARD:0010768														https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine				owl:Class
MONDO:0009660	biolink:NamedThing	mucopolysaccharidosis type 4B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.	mondoexuq1wtf	MPS IVB|MPS4B|mucopolysaccharidosis, type IVB|Beta-D-galactosidase deficiency|Morquio syndrome B|MPS IV B|MPSIVB|mucopolysaccharidosis type IVB|mucopolysaccharidosis, type 4B|MPS 4B|Morquio disease type B											Orphanet:309310|GARD:0003786|NCIT:C84902|UMLS:C0086652|DOID:0111392|SCTID:238044004|ICD10:E76.2|OMIM:253010																		owl:Class
MONDO:0019133	biolink:NamedThing	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).	mondoexuq1wtf												ICD10:Q87.8|UMLS:CN205657|Orphanet:73246																		owl:Class
MONDO:0014926	biolink:NamedThing	Bardet-Biedl syndrome 20	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.	mondoexuq1wtf	Bardet-Biedl syndrome 20|BBS20|Bardet-Biedl syndrome 20; BBS20|Bardet-Biedl syndrome type 20|IFT74 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in IFT74											OMIM:617119|UMLS:C4310707																		owl:Class
MONDO:0001746	biolink:NamedThing	optic disk drusen	Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)	mondoexuq1wtf	drusen of optic disc|optic nerve head drusen											DOID:13561|ICD10:H47.32|UMLS:C0029128|SCTID:33629003|MESH:D015594|COHD:436701|ICD9:377.21																		owl:Class
MONDO:0021048	biolink:NamedThing	benign mastocytoma	A localized mast cell neoplasm without metastatic potential.	mondoexuq1wtf	MAST cell tumor, benign|mastocytoma, benign|benign mastocytoma											UMLS:C2242987|ICD10:D47.0|NCIT:C3217|DOID:4658																		owl:Class
MONDO:0014303	biolink:NamedThing	hereditary spastic paraplegia 64	An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.	mondoexuq1wtf	SPG64|hereditary spastic paraplegia type 64|ENTPD1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 64|spastic paraplegia 64, autosomal recessive|autosomal recessive spastic paraplegia type 64|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1											SCTID:726609005|DOID:0110815|UMLS:C3810289|ICD10:G11.4|UMLS:C4511960|OMIM:615683|Orphanet:401810																		owl:Class
MONDO:0019760	biolink:NamedThing	terminal transverse defects of arm		mondoexuq1wtf	congenital limb amputation											Orphanet:93937|ICD10:Q79.8|UMLS:C1857578																		owl:Class
MONDO:0009011	biolink:NamedThing	constriction rings syndrome	Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.	mondoexuq1wtf	amputation, congenital|Streeter anomaly|constriction band syndrome|CONSTRICTING bands, congenital|Adam Complex|terminal transverse defects of arm|congenital ring constrictions|amniotic band sequence|Streeter dysplasia											Orphanet:295000|OMIM:217100|ICD10:Q79.8																		owl:Class
MONDO:0010618	biolink:NamedThing	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).	mondoexuq1wtf	hypoparathyroidism, X-linked|X-linked hypoparathyroidism|HYPX|parathyroid glands, agenesis of											Orphanet:2239|ICD10:E20.8|UMLS:CN201292|MESH:C563238|OMIM:307700|NCIT:C131079																		owl:Class
MONDO:0013858	biolink:NamedThing	pontine tegmental cap dysplasia	Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.	mondoexuq1wtf	pontine tegmental cap dysplasia|PTCD|PONTINE tegmental CAP dysplasia											UMLS:C3541340|OMIM:614688|Orphanet:269229|GARD:0010919|ICD10:Q04.8														https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia				owl:Class
MONDO:0002813	biolink:NamedThing	lipomatous cancer	A malignant mesenchymal neoplasm arising from adipocytes.	mondoexuq1wtf	malignant adipose tissue tumor|adipose tissue cancer|malignant tumor of the adipose tissue|malignant neoplasm of adipose tissue|malignant tumor of adipose tissue|malignant lipomatous neoplasm|cancer of adipose tissue|malignant neoplasm of the adipose tissue|malignant lipomatous tumor|malignant adipose tissue neoplasm											DOID:3939|NCIT:C4501|SCTID:254828009|UMLS:C0346117|ICD9:171.9																		owl:Class
MONDO:0012466	biolink:NamedThing	Parkinson disease 13, autosomal dominant, susceptibility to	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.	mondoexuq1wtf	young-onset Parkinson disease caused by mutation in HTRA2|Parkinson disease 13, autosomal dominant, susceptibility to|PARK13|HTRA2 young-onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 13											MESH:C565204|OMIM:610297																		owl:Class
MONDO:0003556	biolink:NamedThing	endometrial adenosquamous carcinoma	A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.	mondoexuq1wtf	adenosquamous carcinoma of endometrium|endometrial adenosquamous carcinoma|adenosquamous carcinoma of the endometrium|endometrium adenosquamous carcinoma|endometrial adenosquamous cancer											EFO:1001952|NCIT:C114656|DOID:5631|GARD:0013107|UMLS:C3896969																		owl:Class
MONDO:0003453	biolink:NamedThing	conjunctival intraepithelial neoplasm		mondoexuq1wtf	conjunctiva intraepithelial neoplasia|intraepithelial neoplasia of conjunctiva|conjunctival intraepithelial neoplasia|intraepithelial neoplasia of the conjunctiva											DOID:5465|NCIT:C6120|UMLS:C1333148|ICD9:239.89|SCTID:418134006																		owl:Class
MONDO:0100390	biolink:NamedThing	acute myeloid leukemia, der12p	Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)	mondoexuq1wtf	AML, der(12p)|AML, der12p																													owl:Class
MONDO:0010074	biolink:NamedThing	brachyolmia type 1, toledo type		mondoexuq1wtf	spondyloepiphyseal dysplasia tarda, Toledo type|Sed, chondroitin sulfate type|PAPS-chondroitin sulfate sulfotransferase deficiency|BCYM1B|brachyolmia type 1, Toledo type											MESH:C535787|UMLS:C1849048|OMIM:271630|Orphanet:93303																		owl:Class
MONDO:0012097	biolink:NamedThing	spondylocostal dysostosis 2, autosomal recessive		mondoexuq1wtf	spondylocostal dysostosis 2, autosomal recessive|SCDO2|spondylocostal dysostosis 2											GARD:0009703|UMLS:C1837549|OMIM:608681																		owl:Class
MONDO:0008625	biolink:NamedThing	urate-binding globulin, decrease 1N		mondoexuq1wtf	urate-binding globulin, decrease type 1N|urate-binding globulin, decrease IN											MESH:C566013|UMLS:C1860587|OMIM:191530																		owl:Class
MONDO:0004473	biolink:NamedThing	epiglottis cancer	A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.	mondoexuq1wtf	malignant tumor of the Epiglottis|malignant neoplasm of epiglottis|malignant neoplasm of anterior epiglottis|malignant neoplasm of Epiglottis|malignant Epiglottis tumor|epiglottic throat cancer|malignant epiglottic tumor|malignant epiglottis neoplasm|epiglottic cancer|malignant neoplasm of the Epiglottis|malignant neoplasm of anterior aspect of epiglottis|malignant Epiglottis neoplasm|malignant neoplasm of anterior surface of epiglottis|malignant tumor of Epiglottis|epiglottis cancer|epiglottic carcinoma|cancer of epiglottis|malignant epiglottic neoplasm											SCTID:187681002|NCIT:C35697|DOID:8133|NCIT:C4836|ICD9:146.4|ICD10:C10.1																		owl:Class
MONDO:0006027	biolink:NamedThing	breast synovial sarcoma	A synovial sarcoma (disease) that involves the breast.	mondoexuq1wtf	breast synovial sarcoma (disease)											EFO:1000019																		owl:Class
MONDO:0017216	biolink:NamedThing	calciphylaxis cutis	Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	mondoexuq1wtf												SCTID:717043006|UMLS:C4274083|Orphanet:280065|ICD10:E83.5																		owl:Class
MONDO:0014453	biolink:NamedThing	immunodeficiency 36		mondoexuq1wtf	immunodeficiency 36|immunodeficiency type 36|IMD36											OMIM:616005|UMLS:C4014934																		owl:Class
MONDO:0042602	biolink:NamedThing	Samson-Viljoen syndrome		mondoexuq1wtf	lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia|Samson Viljoen syndrome											GARD:0000152|UMLS:C2931449|MESH:C537231																		owl:Class
MONDO:0002627	biolink:NamedThing	chondroblastic osteosarcoma	An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.	mondoexuq1wtf	chondrosarcomatous osteogenic sarcoma|chondroblastic osteosarcoma (morphologic abnormality)|CHOS|chondroblastic osteogenic sarcoma|chondroblastic osteosarcoma											ICDO:9181/3|ONCOTREE:CHOS|DOID:3372|UMLS:C0279603|NCIT:C4021																		owl:Class
MONDO:0004373	biolink:NamedThing	adult papillary meningioma	A papillary meningioma occurring in adults.	mondoexuq1wtf	papillary meningioma of adults|papillary meningioma|adult papillary meningioma											NCIT:C8293|DOID:7826|UMLS:C0281334																		owl:Class
MONDO:0001060	biolink:NamedThing	microinvasive gastric cancer	An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.	mondoexuq1wtf	superficial gastric cancer|EGC|early gastric cancer|superficial spreading gastric cancer|surface gastric cancer											DOID:10541|UMLS:C0349530|NCIT:C27131|SCTID:276809004																		owl:Class
MONDO:0009881	biolink:NamedThing	pituitary dwarfism with large sella turcica		mondoexuq1wtf	pituitary dwarfism with large sella turcica											OMIM:262710|ICD9:253.8|MESH:C562705|SCTID:27270004|UMLS:C0271575|GARD:0010607														https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica				owl:Class
MONDO:0021116	biolink:NamedThing	luminal A breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.	mondoexuq1wtf	Luminal A breast cancer|Luminal A breast carcinoma|Luminal A|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A subtype of breast carcinoma											NCIT:C53554|UMLS:C3642345																		owl:Class
MONDO:0008293	biolink:NamedThing	porokeratosis 3, disseminated superficial actinic type		mondoexuq1wtf	porokeratosis, disseminated superficial actinic 1|porokeratosis, disseminated superficial actinic, 1|POROK3|porokeratosis 3, disseminated superficial actinic type|porokeratosis 3, multiple types|Dsap|DSAP1											OMIM:175900|MESH:C536339|GARD:0009505																		owl:Class
MONDO:0001532	biolink:NamedThing	capillariasis	A infectious disease involving the Capillaria.	mondoexuq1wtf	Capillaria infection|infections, Capillaria											ICD9:127.5|DOID:12474|ICD10:B81.1|UMLS:C0006897|SCTID:52979002																		owl:Class
MONDO:0024530	biolink:NamedThing	Bethlem myopathy 1		mondoexuq1wtf	BTHLM1|myopathy, benign congenital, with contractures|Bethlem myopathy 1|muscular dystrophy, benign congenital|Bethlem myopathy											OMIM:158810|UMLS:CN029274																		owl:Class
MONDO:0010363	biolink:NamedThing	intellectual disability, X-linked 91	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|mental retardation, X-linked 91|MRX91|intellectual disability, X-linked type 91|intellectual disability, X-linked 91|mental retardation, X-linked type 91|ZDHHC15 non-syndromic X-linked intellectual disability											OMIM:300577|MESH:C564482|UMLS:C1845142																		owl:Class
MONDO:0018872	biolink:NamedThing	acute megakaryoblastic leukemia	Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.	mondoexuq1wtf	acute myeloid leukemia M7|megakaryocytic leukemia|acute megakaryocytic leukemia|acute megakaryoblastic leukemia, FAB M7|leukemia, megakaryocytic, malignant|acute megakaryoblastic leukemia|acute myeloblastic leukemia type 7|acute megakaryoblastic leukaemia, FAB M7|FAB M7|AML M7|acute M7 myeloid leukemia|AMKL|acute megakaryoblastic leukemia (FAB type M7)|megakaryocytic myelosis|acute megakaryoblastic leukaemia|acute megakaryocytic leukemias|thrombocytic leukaemia											Orphanet:518|MedDRA:C0023462|MESH:D007947|ONCOTREE:AMKL|EFO:0003025|SCTID:277602003|Wikipedia:Acute_megakaryoblastic_leukemia|ICD10:C94.2|UMLS:C0023462|GARD:0000524|ICD9:207.2|ICD10:C94.20|DOID:8761|ICDO:9910/3|NCIT:C3170														https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia				owl:Class
MONDO:0019435	biolink:NamedThing	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.	mondoexuq1wtf	polyarticular juvenile idiopathic arthritis, RF+|rheumatoid factor-positive polyarticular JIA|polyarticular JIA, RF+|juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarthritis with rheumatoid factor|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive											NCIT:C119034|Orphanet:85435|UMLS:C3890733|ICD10:M08.0																		owl:Class
MONDO:0008439	biolink:NamedThing	spastic paraplegia-epilepsy-intellectual disability syndrome		mondoexuq1wtf	spastic paraplegia, epilepsy, and intellectual disability|SPEMR|spastic paraplegia epilepsy intellectual disability|spastic paraplegia epilepsy mental retardation|spastic paraplegia, epilepsy, and mental retardation|spemr					Editor note: TODO fix GARD spelling						MESH:C536869|Orphanet:2816|ICD10:G11.4|GARD:0004915|OMIM:182610|UMLS:C1866854																		owl:Class
MONDO:0001769	biolink:NamedThing	acquired tear duct stenosis		mondoexuq1wtf	tear duct - acquired stenosis|acquired stenosis of nasolacrimal duct|acquired nasolacrimal duct stenosis|stenosis of nasolacrimal duct, acquired											COHD:374357|SCTID:193995004|ICD10:H04.55|DOID:13655|ICD9:375.56																		owl:Class
MONDO:0006678	biolink:NamedThing	bladder calculus	A concretion in the urinary bladder.	mondoexuq1wtf												DOID:11355|EFO:1000839|ICD10:N21.0|MESH:D001744|SCTID:70650003|ICD9:594.1|MedDRA:10005001|UMLS:C0005683																		owl:Class
MONDO:0004828	biolink:NamedThing	lower urinary tract calculus	A urolithiasis that involves the lower urinary tract.	mondoexuq1wtf	urolithiasis of lower urinary tract|lower urinary tract urolithiasis											ICD9:594.9|COHD:197028|UMLS:C0156264|ICD10:N21.9|SCTID:79509009|ICD9:594.8|ICD10:N21|ICD9:594|DOID:9590																		owl:Class
MONDO:0012151	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 3		mondoexuq1wtf	attention deficit-hyperactivity disorder, susceptibility to, 3|Adhd3|attention Deficit-hyperactivity disorder, susceptibility to, type 3											OMIM:608905																		owl:Class
MONDO:0007528	biolink:NamedThing	Ehlers-Danlos syndrome, autosomal dominant, type unspecified		mondoexuq1wtf	EDS, unspecified type|Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified											UMLS:C0220679|MESH:C562424|OMIM:130090																		owl:Class
MONDO:0023061	biolink:NamedThing	enamel hypoplasia cataract hydrocephaly		mondoexuq1wtf												GARD:0002106														https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly				owl:Class
MONDO:0004813	biolink:NamedThing	tuberculous pneumothorax	A pneumothorax in which air enters into the pleural cavity.	mondoexuq1wtf												ICD9:011.7|ICD9:011.73|DOID:9534|UMLS:C0152600|ICD9:011.70|ICD9:011.71|ICD10:A15.0|ICD9:011.76|ICD9:011.72|COHD:252235|SCTID:29731002																		owl:Class
MONDO:0011568	biolink:NamedThing	autosomal dominant nonsyndromic deafness 25	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.	mondoexuq1wtf	SLC17A8 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|autosomal dominant nonsyndromic deafness type 25|autosomal dominant deafness 25|deafness, autosomal dominant type 25|DFNA25											UMLS:C1854158|MESH:C565319|ICD10:H90.3|DOID:0110555|OMIM:605583																		owl:Class
MONDO:0000481	biolink:NamedThing	cervical dystonia	Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.	mondoexuq1wtf	spasmodic torticollis											Orphanet:93962|SCTID:74333002|COHD:376387|ICD9:333.83|DOID:0050840|NCIT:C85072|GARD:0010668														https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia				owl:Class
MONDO:0002055	biolink:NamedThing	benign eccrine breast spiradenoma	A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.	mondoexuq1wtf	benign breast eccrine spiradenoma|benign eccrine spiradenoma of the breast|benign eccrine breast spiradenoma|benign eccrine spiradenoma of breast											UMLS:C1332492|NCIT:C5193|DOID:1616																		owl:Class
MONDO:0003448	biolink:NamedThing	benign spiradenoma	A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.	mondoexuq1wtf	spiradenoma|benign eccrine spiradenoma|eccrine spiradenoma|eccrine spiradenoma of skin|spiroma/spiradenoma|eccrine spiradenoma (morphologic abnormality)					Spiradenomas are usually benign. Malignant forms are rare.						UMLS:C0334347|DOID:5444|GARD:0008649|NCIT:C4170|SCTID:403938001|ICDO:8403/0|ONCOTREE:SPIR																		owl:Class
MONDO:0016301	biolink:NamedThing	congenitally corrected transposition of the great arteries	Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.	mondoexuq1wtf	transposition of the great arteries, congenitally corrected|levo-transposition of the great vessels|discordant ventriculoarterial and atrioventricular connections|Double discordance|ventricular inversion|levo-transposition of the great arteries|L-transposition of the great arteries|ventriculoarterial and atrioventricular discordance|transposition of the great vessels, congenitally corrected|L-transposition of the great vessels|congenitally corrected transposition of the great vessels											MESH:C535426|Orphanet:216694|ICD9:745.12|GARD:0001544|ICD10:Q20.5|MedDRA:10011120|SCTID:83799000|UMLS:C3274488|NCIT:C98902														https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries				owl:Class
MONDO:0016771	biolink:NamedThing	annular atrophic lichen planus	Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.	mondoexuq1wtf	annular atrophic LP											UMLS:C4304037|Orphanet:254411|GARD:0012676|ICD10:L43.8|SCTID:720493003														https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus				owl:Class
MONDO:0010080	biolink:NamedThing	familial infantile bilateral striatal necrosis	Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	mondoexuq1wtf	FBSN|bilateral striatal Necrosis, infantile|familial IBSN|SNDI|familial bilateral striatal necrosis|familial infantile striatonigral necrosis|hereditary infantile bilateral striatal necrosis|infantile bilateral striatal necrosis|striatal degeneration, familial|familial infantile striatonigral degeneration|striatonigral degeneration, infantile											ICD10:G23.2|UMLS:CN201303|OMIM:271930|Orphanet:225154|GARD:0010665														https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis				owl:Class
MONDO:0001037	biolink:NamedThing	ring corneal ulcer		mondoexuq1wtf												ICD9:370.02|ICD10:H16.02|COHD:377563|SCTID:111520007|DOID:10444|UMLS:C0155068																		owl:Class
MONDO:0003917	biolink:NamedThing	heart lymphoma	An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.	mondoexuq1wtf	PCL|Primary heart lymphoma|Cardiac lymphoma|lymphoma of the heart|primary Cardiac lymphoma|heart lymphoma|lymphoma of heart											DOID:6547|NCIT:C5368|UMLS:C1332850																		owl:Class
MONDO:0001598	biolink:NamedThing	benign lymphoepithelial lesion of salivary gland	A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.	mondoexuq1wtf	benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland|Godwin tumor|benign salivary gland lymphoepithelial lesion											ICD10:K11.8|UMLS:C0266995|DOID:12899|SCTID:45517002|NCIT:C3949|ICD9:527.8																		owl:Class
MONDO:0012857	biolink:NamedThing	porokeratosis 5, disseminated superficial actinic type		mondoexuq1wtf	porokeratosis 5, disseminated superficial actinic type|porokeratosis, disseminated superficial actinic, 3|POROK5											UMLS:C2676769|MESH:C567356|OMIM:612293																		owl:Class
MONDO:0019140	biolink:NamedThing	acute ackee fruit intoxication	Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.	mondoexuq1wtf	Jamaican vomiting syndrome|acute intoxication by Blighia sapida|Jamaican vomiting sickness|ackee poisoning											GARD:0009299|Orphanet:73423|ICD10:T62.2|SCTID:49434001|ICD9:988.2|MESH:C537562																		owl:Class
MONDO:0009802	biolink:NamedThing	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski		mondoexuq1wtf	Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty precocious of Danks Mayne and Kozlowski|osteodysplasty, precocious, of Danks, Mayne, and Kozlowski											OMIM:259270|UMLS:C1850185|MESH:C564922|GARD:0008662														https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski				owl:Class
MONDO:0003684	biolink:NamedThing	clear cell chondrosarcoma	A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.	mondoexuq1wtf	clear cell chondrosarcoma (morphologic abnormality)|clear cell chondrosarcoma											UMLS:C1266167|ICDO:9242/3|DOID:5867|NCIT:C6475																		owl:Class
MONDO:0014536	biolink:NamedThing	thrombocytopenia 5	Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.	mondoexuq1wtf	thrombocytopenia 5|thrombocytopenia caused by mutation in ETV6|thrombocytopenia, autosomal dominant, 5|ETV6 thrombocytopenia|thrombocytopenia type 5|thrombocytopenia 5 with increased susceptibility to malignancy|THC5											UMLS:C4015537|OMIM:616216																		owl:Class
MONDO:0044350	biolink:NamedThing	hyperparathyroidism, primary, caused by water clear cell hyperplasia		mondoexuq1wtf	hyperparathyroidism, primary, caused by water clear cell hyperplasia											OMIM:600166|MESH:C563982																		owl:Class
MONDO:0020524	biolink:NamedThing	primary parathyroid hyperplasia		mondoexuq1wtf	hereditary parathyroids hyperplasia|familial parathyroids hyperplasia											Orphanet:99878|ICD10:E21.0																		owl:Class
MONDO:0017640	biolink:NamedThing	cyanide-induced parkinsonism	Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.	mondoexuq1wtf												UMLS:CN203536|Orphanet:306692|SCTID:766872002|ICD10:G21.2																		owl:Class
MONDO:0018368	biolink:NamedThing	primary peritoneal serous/papillary carcinoma		mondoexuq1wtf	PPSPC|primary peritoneal serous papillary adenocarcinoma|peritoneal serous papillary adenocarcinoma|primary serous papillary carcinoma of peritoneum|primary peritoneal serous papillary carcinoma											ICD10:C48.0|ICD10:C48.2|ICD10:C48.1|UMLS:C1368918|Orphanet:398980|UMLS:CN205035|NCIT:C7695|DOID:6228|ICD10:C48.8																		owl:Class
MONDO:0010058	biolink:NamedThing	scapuloperoneal spinal muscular atrophy, autosomal recessive		mondoexuq1wtf	spinal muscular atrophy, scapuloperoneal											UMLS:CN074295|OMIM:271220																		owl:Class
MONDO:0001975	biolink:NamedThing	cavernous hemangioma of orbit	A cavernous hemangioma arising from the orbit.	mondoexuq1wtf	orbit cavernous angioma|orbit cavernous hemangioma|cavernous hemangioma of the orbit|cavernous angioma of the orbit|cavernous angioma of orbit											ICD9:228.09|SCTID:254998002|NCIT:C4546|DOID:14463|UMLS:C0346352																		owl:Class
MONDO:0015307	biolink:NamedThing	Madras motor neuron disease	Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.	mondoexuq1wtf	MMND											Orphanet:137867|GARD:0010742|ICD10:G12.2|UMLS:C0393551																		owl:Class
MONDO:0002667	biolink:NamedThing	gallbladder signet ring cell adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.	mondoexuq1wtf	signet Ring cell carcinoma of the gallbladder|gall bladder signet ring cell carcinoma|signet Ring cell carcinoma of gallbladder|gallbladder signet Ring cell carcinoma											UMLS:C1333758|NCIT:C5745|DOID:3499																		owl:Class
MONDO:0015748	biolink:NamedThing	hereditary mucosal leukokeratosis	White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.	mondoexuq1wtf	white sponge nevus of Cannon|white sponge nevus|hereditary mucosal leukokeratosis|White sponge nevus of Cannon											SCTID:389203001|NCIT:C84760|UMLS:C1721005|GARD:0008501|MESH:D053529|ICD10:Q38.6|DOID:0050448|Orphanet:171723|ICD9:528.6|OMIMPS:193900																		owl:Class
MONDO:0016173	biolink:NamedThing	non-paraneoplastic sensory ganglionopathy		mondoexuq1wtf	non-paraneoplastic sensory neuronopathy											Orphanet:208989																		owl:Class
MONDO:0002057	biolink:NamedThing	breast leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	breast leiomyoma|leiomyoma of breast											DOID:1623|NCIT:C40399|UMLS:C1511317																		owl:Class
MONDO:0032862	biolink:NamedThing	hydrocephalus, congenital communicating, 1		mondoexuq1wtf	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1|HYDCC1											OMIM:618667																		owl:Class
MONDO:0018830	biolink:NamedThing	Kimura disease	Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.	mondoexuq1wtf	eosinophilic granuloma of soft tissue|angiolymphoid hyperplasia with eosinophilia|Kimura's disease|eosinophilic hyperplastic lymphogranuloma|eosinophilic lymphofollicular granuloma|eosinophilic lymphogranuloma|eosinophilic lymphofolliculosis											Wikipedia:Kimura's_disease|UMLS:C0033838|DOID:7365|EFO:1000722|MedDRA:10048640|NCIT:C26867|MESH:D000796|ICD10:I89.8|Orphanet:482|GARD:0006835														https://rarediseases.info.nih.gov/diseases/6835/kimura-disease				owl:Class
MONDO:0003717	biolink:NamedThing	renal pelvis papillary tumor	A papillary tumor originating in the renal pelvis.	mondoexuq1wtf	renal pelvis papillary urothelial neoplasm|papillary neoplasm of renal pelvis|renal pelvis papillary tumor|papillary tumor of the renal pelvis|papillary neoplasm of the renal pelvis|papillary tumor of renal pelvis											NCIT:C8603|DOID:5975|UMLS:C0853688																		owl:Class
MONDO:0010646	biolink:NamedThing	macular dystrophy, X-linked		mondoexuq1wtf	macular dystrophy, X-linked											UMLS:C1839842|OMIM:309100|MESH:C564110																		owl:Class
MONDO:0008116	biolink:NamedThing	oculopharyngeal muscular dystrophy	Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.	mondoexuq1wtf	OPMD|oculopharyngeal muscular dystrophy|muscular dystrophy, oculopharyngeal											GARD:0007245|UMLS:C0270952|MedDRA:10052181|MESH:D039141|Orphanet:270|OMIM:164300|NCIT:C84942|ICD10:G71.0|SCTID:77097004|DOID:11719														https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy				owl:Class
MONDO:0020769	biolink:NamedThing	Menke-Hennekam syndrome 2		mondoexuq1wtf	MKHK2|Menke-Hennekam syndrome 2											OMIM:618333																		owl:Class
MONDO:0000190	biolink:NamedThing	ventricular fibrillation	A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)	mondoexuq1wtf	ventricular fibrillation|VFib|ventricular fibrillation (disease)|VF|fibrillation, ventricular		ventricular fibrillation (disease)									SCTID:71908006|EFO:0004287|DC:0000692|MESH:D014693|ICD9:427.41|HP:0001663|UMLS:C0042510|COHD:437894|NCIT:C50799																		owl:Class
MONDO:0008045	biolink:NamedThing	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.	mondoexuq1wtf	hereditary myoclonus-progressive distal muscular atrophy syndrome|spinal muscular atrophy with progressive myoclonic epilepsy|Jankovic-Rivera syndrome|myoclonus hereditary progressive distal muscular atrophy|Jankovic Rivera syndrome|hereditary myoclonus and progressive distal muscular atrophy|SMAPME|myoclonus, hereditary, with progressive distal muscular atrophy											MESH:C537563|ICD10:G25.3|Orphanet:2590|UMLS:C1834569|OMIM:159950|DOID:0111527|ICD9:345.10|GARD:0003044|SCTID:703524005|GARD:0003875																		owl:Class
MONDO:0022733	biolink:NamedThing	choreoacanthocytosis amyotrophic		mondoexuq1wtf												GARD:0001306														https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic				owl:Class
MONDO:0003250	biolink:NamedThing	benign granular cell tumor	A granular cell tumor that is confined to the site of origin, without metastatic potential.	mondoexuq1wtf	benign granular cell neoplasm|benign granular cell tumor|benign granular cell myoblastoma|myoblastoma|granular cell tumor, benign											DOID:5039|UMLS:C0027043|NCIT:C3252																		owl:Class
MONDO:0000309	biolink:NamedThing	aniseikonia	A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.	mondoexuq1wtf												SCTID:16059006|DOID:0050304|MESH:D000839|EFO:1001266|ICD9:367.32|ICD10:H52.32																		owl:Class
MONDO:0022407	biolink:NamedThing	retinal ciliopathy due to mutation in bardet-biedl gene		mondoexuq1wtf												Orphanet:156183																		owl:Class
MONDO:0012776	biolink:NamedThing	celiac disease, susceptibility to, 7		mondoexuq1wtf	celiac disease, susceptibility to, 7|CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7											OMIM:612005																		owl:Class
MONDO:0001775	biolink:NamedThing	chronic duodenal ileus		mondoexuq1wtf												COHD:441897|ICD9:537.2|ICD10:K31.5|DOID:13687|UMLS:C0156087|SCTID:52232007																		owl:Class
MONDO:0008461	biolink:NamedThing	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells		mondoexuq1wtf	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells											OMIM:183350|MESH:C566666|UMLS:C1866744																		owl:Class
MONDO:0007039	biolink:NamedThing	neurofibromatosis type 2	Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	mondoexuq1wtf	acoustic neurinoma bilateral|NF2|neurofibromatosis, type II|bilateral acoustic neurofibromatosis|acoustic neurinoma, bilateral|neurofibromatosis type II|neurofibromatosis type 2|neurofibromatosis central type|acoustic schwannomas bilateral|neurofibromatosis, central type|neurofibromatosis, type 2|central neurofibromatosis|acoustic neurofibromatosis|acoustic Schwannomas, bilateral|neurofibromatosis 2											NCIT:C3274|Orphanet:637|ICD10:Q85.02|UMLS:C0027832|MedDRA:10000523|DOID:0111252|COHD:380975|MedDRA:10029271|ICD10:Q85.0|OMIM:101000|SCTID:92503002|GARD:0007193|ICD9:237.72																		owl:Class
MONDO:0016317	biolink:NamedThing	limbic encephalitis with NMDA receptor antibodies	Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.	mondoexuq1wtf	limbic encephalitis with N-methyl-D-aspartate receptor antibodies											UMLS:C4274344|SCTID:716684004|UMLS:CN201135|Orphanet:217253|ICD10:G13.1																		owl:Class
MONDO:0019825	biolink:NamedThing	congenital coronary artery aneurysm	Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.	mondoexuq1wtf	congenital coronary aneurysm											SCTID:204378009|Orphanet:95491|ICD10:Q24.5																		owl:Class
MONDO:0100400	biolink:NamedThing	acute myeloid leukemia, t(3;12)(q23;p12.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)	mondoexuq1wtf	AML, t(3;12)(q23;p12.3)																													owl:Class
MONDO:0032583	biolink:NamedThing	microcephaly 24, primary, autosomal recessive		mondoexuq1wtf	MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE|MCPH24											OMIM:618179																		owl:Class
MONDO:0030870	biolink:NamedThing	premature ovarian failure 17		mondoexuq1wtf	POF17|premature ovarian failure 17											OMIM:619146																		owl:Class
MONDO:0013237	biolink:NamedThing	susceptibility to mononeuropathy of the median nerve, mild		mondoexuq1wtf	MNMN|carpal tunnel syndrome, susceptibility to|mononeuropathy of the median nerve, mild											UMLS:C3150596|OMIM:613353																		owl:Class
MONDO:0014158	biolink:NamedThing	nephronophthisis 16	Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.	mondoexuq1wtf	nephronophthisis type 16|nephronophthisis (disease) caused by mutation in ANKS6|NPHP16|autosomal recessive infantile NPHP|infantile nephronophthisis|nephronophthisis 16|autosomal recessive infantile nephronophthisis|ANKS6 nephronophthisis (disease)											ICD10:Q61.5|UMLS:C3809320|OMIM:615382|SCTID:444558002|DOID:0111124																		owl:Class
MONDO:0002396	biolink:NamedThing	nephrogenic adenofibroma	A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.	mondoexuq1wtf	metanephric adenofibroma											DOID:2698|ICDO:8965/0|NCIT:C39812|UMLS:C1266141																		owl:Class
MONDO:0013003	biolink:NamedThing	isolated congenital hypoglossia/aglossia	Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).	mondoexuq1wtf	hypoglossia, isolated|hypoglossia with situs inversus											Orphanet:141152|OMIM:612776|UMLS:C2748587|ICD10:Q38.3																		owl:Class
MONDO:0007332	biolink:NamedThing	split-hand/foot malformation with long bone deficiency 1		mondoexuq1wtf	split-hand/foot malformation with long bone deficiency|cleft hand absent tibia|tibial aplasia with split-hand/split-foot deformity|split-hand-foot malformation with long bone deficiency|tibial aplasia with split-hand-split-foot deformity|SHFLD|cleft hand and absent tibia|SHFLD1|split-hand/foot malformation with long bone deficiency 1|ectrodactyly with aplasia of long bones|aplasia of tibia with ectrodactyly											OMIM:119100|MESH:C536425																		owl:Class
MONDO:0010030	biolink:NamedThing	Sjogren syndrome	An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain	mondoexuq1wtf	xerodermosteosis|Sjogren's syndrome|Sjögren syndrome|Sjogren syndrome|syndrome, Sjogren's|primary Sjögren syndrome|primary Sjogren-Gougerot syndrome|sicca syndrome|primary Sjögren-Gougerot syndrome					Editor note: check for differences with Mik PMID:10845583						MESH:D012859|EFO:0000699|Orphanet:289390|DOID:12894|OMIM:270150|ICD10:M35.0|ICD9:710.2|NCIT:C26883|SCTID:83901003|ICD10:M35.00|GARD:0010252																		owl:Class
MONDO:0024263	biolink:NamedThing	neonatal aspiration syndrome	Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.	mondoexuq1wtf						Editor note: TODO axiomatize using ECTO						NCIT:C118312|SCTID:276533002|UMLS:C0349468																		owl:Class
MONDO:0010734	biolink:NamedThing	spatial visualization, aptitude for		mondoexuq1wtf	visuospatial/perceptual abilities|spatial visualization, aptitude for|Turner syndrome-associated Neurocognitive phenotype											UMLS:C1839262|MESH:C564058|OMIM:313000																		owl:Class
MONDO:0002002	biolink:NamedThing	postsurgical hypothyroidism		mondoexuq1wtf	post-surgical hypothyroidism|postoperative hypothyroidism											SCTID:27059002|DOID:1458|ICD10:E89.0|UMLS:C0154157|ICD9:244.0																		owl:Class
MONDO:0010366	biolink:NamedThing	FG syndrome 5		mondoexuq1wtf	FGS5|FG syndrome 5											MESH:C564480|UMLS:C1845119|OMIM:300581																		owl:Class
MONDO:0007740	biolink:NamedThing	Wagner disease	Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.	mondoexuq1wtf	WGVRP|dominant hyaloideoretinal dystrophy of Wagner|Wagner vitreoretinopathy|Wagner syndrome 1|WGN1|Wagner disease (formerly)|vitreoretinal degeneration, Wagner type|Wagner syndrome type 1|erosive vitreoretinopathy|VCAN-related vitreoretinopathy|Wagner vitreoretinal Degeneration|ERVR|hyaloideoretinal Degeneration of Wagner|Wagner syndrome											MedDRA:10063383|Orphanet:898|GARD:0007871|UMLS:C1840452|ICD10:H35.5|SCTID:232064001|MESH:C536075|OMIM:143200																		owl:Class
MONDO:0008328	biolink:NamedThing	glaucoma 1, open angle, P		mondoexuq1wtf	glaucoma 1, open angle, P|GLC1P|glaucoma 1, open angle, type P											OMIM:177700|UMLS:C3888338																		owl:Class
MONDO:0015247	biolink:NamedThing	opsoclonus-myoclonus syndrome	Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.	mondoexuq1wtf	dancing eye-dancing feet syndrome|OMS|dancing eye syndrome|Kinsbourne syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|paraneoplastic opsoclonus-myoclonus|oma syndrome|opsoclonus myoclonus syndrome|Ataxo-opso-myoclonus syndrome|opsoclonus-myoclonus-ataxia syndrome|POMA syndrome											MESH:D053578|EFO:1001383|GARD:0010009|ICD9:379.59|NCIT:C4686|MedDRA:10053854|ICD10:G25.3|UMLS:C0393626|Orphanet:1183|SCTID:230350000																		owl:Class
MONDO:0015240	biolink:NamedThing	digitotalar dysmorphism	Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.	mondoexuq1wtf	DA1|distal arthrogryposis type 1B (sub-type)|distal arthrogryposis type 1|distal arthrogryposis type 1A (sub-type)|AMCD1|digitotalar dysmorphism|arthrogryposis multiplex congenita distal type 1											UMLS:C1852085|UMLS:CN197602|ICD10:Q68.8|Orphanet:1146|UMLS:C0220662|GARD:0000787														https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1				owl:Class
MONDO:0009135	biolink:NamedThing	anemia, congenital dyserythropoietic, type 1a		mondoexuq1wtf	anemia, congenital dyserythropoietic, type Ia|dyserythropoietic Anemia, congenital, type Ia|CDAN1A|anemia, congenital dyserythropoietic, type 1|CDA Ia											OMIM:224120|DOID:0111398																		owl:Class
MONDO:0000476	biolink:NamedThing	generalized dystonia		mondoexuq1wtf	fragments of torsion dystonia|Progressive torsion spasm|Oppenheim Ziehen disease|symptomatic torsion dystonia|idiopathic non-familial dystonia|Idiopathic torsion dystonias|childhood torsion disease|dystonia musculorum deformans|familial dystonia|idiopathic familial dystonia|dystonias, torsion|torsion disease of childhood|torsion dystonia, Idiopathic|Oppenheim-Ziehen disease|torsion disease, childhood|spasm, Progressive torsion|dystonias, Idiopathic torsion|dystonia 12|dystonia deformans progressiva|dystonia, Idiopathic torsion|torsion dystonia|dystonia deformans musculorum|idiopathic torsion dystonia|Idiopathic torsion dystonia|torsion spasm, Progressive					Editor note: TODO						MESH:D004422|ICD10:G24.2|ICD9:333.8|DOID:0050835|ICD9:333.6|ICD9:333.89|ICD10:G24.1|SCTID:425492002																		owl:Class
MONDO:0004169	biolink:NamedThing	premenstrual tension	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.	mondoexuq1wtf												ICD10:N94.3|DOID:727|MESH:D011293|UMLS:C0376356|ICD9:625.4																		owl:Class
MONDO:0009077	biolink:NamedThing	deafness, congenital, and familial myoclonic epilepsy		mondoexuq1wtf	deafness, congenital, and familial myoclonic epilepsy											OMIM:220300|UMLS:C1857348|MESH:C565649																		owl:Class
MONDO:0045054	biolink:NamedThing	cancer-related condition	A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).	mondoexuq1wtf	problem/condition, cancer-related|cancer-related problem or condition|oncologic complications|problem/condition, cancer related|cancer-related condition|cancer related problem/condition											UMLS:C0280950|NCIT:C8278																		owl:Class
MONDO:0001003	biolink:NamedThing	pneumoconiosis due to talc	Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.	mondoexuq1wtf	talc pneumoconiosis											ICD10:J62.0|DOID:10329|UMLS:C0238377|SCTID:73144008|ICD9:502|NCIT:C27026																		owl:Class
MONDO:0045072	biolink:NamedThing	ectopic hormone secretion syndrome associated with neoplasia	Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.	mondoexuq1wtf	neoplasm associated ectopic hormone secretion syndrome|ectopic hormone secretion syndrome associated with neoplasia											NCIT:C4065|UMLS:C0851689														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0004286	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm	A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.	mondoexuq1wtf	intraductal papillary mucinous neoplasm|pancreatic intraductal papillary-mucinous tumor|pancreatic IPMN|IPMN|pancreatic intraductal papillary-mucinous neoplasm											UMLS:C1518869|ONCOTREE:IPMN|NCIT:C38342|DOID:7575																		owl:Class
MONDO:0006226	biolink:NamedThing	gastric mucosa-associated lymphoid tissue lymphoma	A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.	mondoexuq1wtf	MALT lymphoma of stomach|gastric MALT lymphoma|gastric MALToma|MALT lymphoma of the stomach|stomach MALT lymphoma|primary gastric MALT lymphoma|gastric mucosa-associated lymphoid tissue lymphoma|primary MALT lymphoma of the stomach|MALToma of stomach|primary gastric B-cell MALT lymphoma|primary MALT lymphoma of stomach|MALToma of the stomach											UMLS:C1333782|NCIT:C5266|EFO:1000274																		owl:Class
MONDO:0018560	biolink:NamedThing	anterior urethral valve		mondoexuq1wtf						Editor note: consider obsoleting as represents a finding						Orphanet:435372|SCTID:253907008|ICD10:Q64.7|UMLS:CN242188																		owl:Class
MONDO:0015633	biolink:NamedThing	Bazex syndrome	Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.	mondoexuq1wtf	acrokeratosis paraneoplastica of Bazex|acrokeratosis paraneoplastica|acrokeratosis of Bazex											UMLS:C0406355|ICD9:757.39|SCTID:238640007|Orphanet:166113|UMLS:CN200039																		owl:Class
MONDO:0013740	biolink:NamedThing	lethal occipital encephalocele-skeletal dysplasia syndrome	Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	mondoexuq1wtf	RHFCA|radiohumeral fusions with other skeletal and craniofacial anomalies											OMIM:614416|ICD10:Q87.5|UMLS:C3280729|Orphanet:293925																		owl:Class
MONDO:0001317	biolink:NamedThing	phlyctenulosis		mondoexuq1wtf	strumous ophthalmia|Phlyctenular keratoconjunctivitis											ICD9:370.31|UMLS:C0155080|COHD:377287|SCTID:67895005|DOID:11581|ICD10:H16.25																		owl:Class
MONDO:0012809	biolink:NamedThing	histiocytoma, Angiomatoid fibrous	A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.	mondoexuq1wtf	angiomatoid fibrous histiocytoma|histiocytoma, Angiomatoid fibrous|AFH|angiomatoid malignant fibrous histiocytoma											UMLS:C1266127|NCIT:C6494|ICDO:8836/1|MESH:C563181|Orphanet:569164|OMIM:612160|ONCOTREE:AFH																		owl:Class
MONDO:0001490	biolink:NamedThing	corneal granular dystrophy	A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.	mondoexuq1wtf	granular corneal dystrophy											ICD9:371.53|DOID:12318|SCTID:45283008|UMLS:C0018179|ICD10:H18.53|NCIT:C34651																		owl:Class
MONDO:0100164	biolink:NamedThing	permanent neonatal diabetes mellitus	Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.	mondoexuq1wtf	PNDM|diabetes mellitus, permanent neonatal|diabetes mellitus, permanent neonatal, with neurologic features|developmental delay, epilepsy, and neonatal diabetes|monogenic diabetes of infancy|permanent diabetes mellitus of infancy|PDMI|diabetes mellitus, permanent, of infancy							http://orcid.org/0000-0001-5208-3432				UMLS:C1833104|DOID:0060639|OMIMPS:606176|NCIT:C114902|Orphanet:99885|SCTID:609565001|GARD:0010457|ICD10:P70.2														https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus				owl:Class
MONDO:0016391	biolink:NamedThing	neonatal diabetes mellitus	Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.	mondoexuq1wtf	congenital diabetes mellitus|diabetes mellitus syndrome in newborn infant|NDM											Orphanet:224|UMLS:C0158981|ICD9:775.1|COHD:193323|NCIT:C99248|ICD10:P70.2|SCTID:49817004|MedDRA:10028933|DOID:11717																		owl:Class
MONDO:0008685	biolink:NamedThing	Wolff-Parkinson-white syndrome	A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.	mondoexuq1wtf	WPW|WOLFF-Parkinson-WHITE syndrome|Wolff-Parkinson-white syndrome (disease)|preexcitation syndrome|Wolff-Parkinson-White pattern (finding)|Wpw syndrome|Wolff-Parkinson-White pattern|Wolff-Parkinson-White syndrome|anomalous atrioventricular excitation|accessory atrioventricular pathways|anomalous A-V excitation		Wolff-Parkinson-white syndrome (disease)									ICD9:426.7|ICD10:I45.6|HP:0001716|EFO:1001450|COHD:313224|OMIM:194200|SCTID:17869006|NCIT:C35132|DOID:384																		owl:Class
MONDO:0018446	biolink:NamedThing	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		mondoexuq1wtf												Orphanet:404481|UMLS:CN226191|ICD10:G11.1																		owl:Class
MONDO:0011704	biolink:NamedThing	glaucoma 1, open angle, B		mondoexuq1wtf	glaucoma 1, open angle, B|GLC1B											OMIM:606689																		owl:Class
MONDO:0018198	biolink:NamedThing	acute encephalopathy with biphasic seizures and late reduced diffusion	Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	mondoexuq1wtf	AESD|AIEF|acute infantile encephalopathy predominantly affecting the frontal lobes											Orphanet:363549|SCTID:766044005|ICD10:G40.4																		owl:Class
MONDO:0004232	biolink:NamedThing	large cell keratinizing variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.	mondoexuq1wtf	squamous cell breast carcinoma, large cell keratinizing variant											DOID:7461|UMLS:C1519486|NCIT:C40357																		owl:Class
MONDO:0008921	biolink:NamedThing	carnosinemia	Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.	mondoexuq1wtf	Carnosinase deficiency|homocarnosinosis|carnosinemia											Orphanet:1361|ICD10:E70.8|OMIM:212200|SCTID:410052008|UMLS:C3495555|NCIT:C125661|GARD:0006001																		owl:Class
MONDO:0007615	biolink:NamedThing	laurin-Sandrow syndrome	Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	mondoexuq1wtf	mirror hands and feet with nasal defects|laurin Sandrow syndrome|Sandrow syndrome|mirror hands and feets-nasal defects syndrome|fibula ulna duplication tibia radius absence|laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|LSS|fibula and ulna, Duplication of, with absence of tibia and radius|laurin-Sandrow syndrome|tetramelic mirror-Image polydactyly											DOID:0111350|GARD:0000155|MESH:C535689|ICD10:Q87.2|Orphanet:2378|SCTID:715440003|OMIM:135750														https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome				owl:Class
MONDO:0004326	biolink:NamedThing	sphenoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	mondoexuq1wtf	sphenoidal sinus inverted papilloma|inverted papilloma of sphenoid sinus|inverted papilloma of the sphenoid sinus											NCIT:C6841|UMLS:C1336037|DOID:7678																		owl:Class
MONDO:0008543	biolink:NamedThing	tetralogy of fallot and glaucoma		mondoexuq1wtf	familial tetralogy of fallot and glaucoma|tetralogy of fallot and glaucoma											MESH:C536501|OMIM:187501|GARD:0010107|UMLS:C1861234														https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma				owl:Class
MONDO:0023273	biolink:NamedThing	pigmented dermatofibrosarcoma protuberans	A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.	mondoexuq1wtf	DFSPs, Pigmented|Pigmented storiform neurofibroma|Bednar tumor|Tumor, Bednar's|Bednar Tumor|DFSP, Pigmented|Tumor, Bednar|Pigmented Dermatofibrosarcoma Protuberans|Protuberan, Pigmented Dermatofibrosarcoma|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Bednars Tumor|Pigmented dermatofibrosarcoma protuberans of skin|Pigmented Dermatofibrosarcoma Protuberan|Dermatofibrosarcoma Protuberan, Pigmented|Pigmented DFSPs|Protuberans, Pigmented Dermatofibrosarcoma|Bednar's Tumor|Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|Pigmented dermatofibrosarcoma protuberans|Pigmented dermatofibrosarcoma|Dermatofibrosarcoma Protuberans, Pigmented|bednar tumor|pigmented dermatofibrosarcoma protuberans|Pigmented DFSP											NCIT:C9430|GARD:0009624|SCTID:398670003|UMLS:C0334464																		owl:Class
MONDO:0004168	biolink:NamedThing	cribriform variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.	mondoexuq1wtf	testicular seminoma, cribriform variant											UMLS:C1515292|DOID:7269|NCIT:C40957																		owl:Class
MONDO:0012275	biolink:NamedThing	fetal valproate syndrome	Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).	mondoexuq1wtf	susceptibility to valproate embryopathy|fetal valproate syndrome|valproic acid embryopathy|valproate embryopathy, susceptibility to|FVS|fetal valproic acid syndrome											MedDRA:10016524|DOID:0060471|GARD:0005447|Orphanet:1906|SCTID:17231009|ICD10:Q86.8|NCIT:C98930|OMIM:609442|UMLS:C0236026|ICD9:759.89|MESH:C536525														https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome				owl:Class
MONDO:0001776	biolink:NamedThing	prostate calculus	A concretion in the prostate.	mondoexuq1wtf	prostate gland lower urinary tract calculus|prostatic stone|Stone of prostate|prostatic lithiasis|calculus of prostate|lower urinary tract calculus of prostate gland											ICD10:N42.0|UMLS:C0149525|COHD:193818|DOID:13689|ICD9:602.0|SCTID:85324003																		owl:Class
MONDO:0011907	biolink:NamedThing	acrocapitofemoral dysplasia	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	mondoexuq1wtf	ACFD|acrocapitofemoral dysplasia											Orphanet:63446|SCTID:720416007|ICD10:Q78.8|MESH:C564334|OMIM:607778|GARD:0010605|DOID:0050604|UMLS:C1843096														https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia				owl:Class
MONDO:0032871	biolink:NamedThing	leukodystrophy, hypomyelinating, 19, transient infantile		mondoexuq1wtf	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE|HLD19											OMIM:618688																		owl:Class
MONDO:0013942	biolink:NamedThing	peroxisome biogenesis disorder 8A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder, complementation group D|PBD8A|peroxisome biogenesis disorder, complementation group 9|peroxisome biogenesis disorder 8A (Zellweger)											DOID:0080483|OMIM:614876|UMLS:C3553959														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0003755	biolink:NamedThing	urinary tract non-invasive transitional cell neoplasm		mondoexuq1wtf	non-invasive urothelial neoplasm|non-invasive transitional cell neoplasm of the urinary tract											UMLS:C1518361|NCIT:C39854|DOID:6065																		owl:Class
MONDO:0015485	biolink:NamedThing	primary hereditary glaucoma		mondoexuq1wtf	primary glaucoma											Orphanet:156005																		owl:Class
MONDO:0010000	biolink:NamedThing	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		mondoexuq1wtf	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction											MESH:C564829|UMLS:C1849333|OMIM:268315																		owl:Class
MONDO:0019904	biolink:NamedThing	ring chromosome 3	Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.	mondoexuq1wtf	R3|Ring 3|chromosome 3 ring|rose cluster 3|Ring chromosome 3 syndrome|Ring chromosome type 3											Orphanet:96172|ICD10:Q93.2|UMLS:C4050314|SCTID:765486004|GARD:0010839|NCIT:C121982														https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3				owl:Class
MONDO:0008169	biolink:NamedThing	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension		mondoexuq1wtf	osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension											MESH:C563478|UMLS:C1833688|OMIM:166990|GARD:0002277																		owl:Class
MONDO:0011175	biolink:NamedThing	Friedreich ataxia 2	Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11	mondoexuq1wtf	FRDA2|Friedreich ataxia 2											UMLS:C1865981|OMIM:601992|MESH:C566594|DOID:0111219																		owl:Class
MONDO:0006095	biolink:NamedThing	atypical carcinoid tumor	A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.	mondoexuq1wtf	atypical carcinoid tumor|malignant carcinoid tumor											COHD:40482859|UMLS:C1266032|EFO:1000097|SCTID:445238008|NCIT:C72074|UMLS:C0391970																		owl:Class
MONDO:0009711	biolink:NamedThing	congenital fiber-type disproportion myopathy	A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.	mondoexuq1wtf	congenital fiber-type disproportion|congenital fiber type disproportion|CFTD|myopathy, congenital, with fiber-type disproportion|congenital myopathy with fiber type disproportion|congenital myopathy with fibre type disproportion|fiber-type disproportion myopathy, congenital|myopathy, congenital with fiber-type disproportion|CFTDM											UMLS:C0546264|DOID:0080102|OMIM:255310|GARD:0006161|ICD10:G71.2|NCIT:C120046|Orphanet:2020																		owl:Class
MONDO:0014122	biolink:NamedThing	myofibromatosis, infantile, 2	Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.	mondoexuq1wtf	IMF2|myofibromatosis caused by mutation in NOTCH3|myofibromatosis, infantile, type 2|NOTCH3 myofibromatosis|myofibromatosis, infantile, 2											OMIM:615293|UMLS:C3809084																		owl:Class
MONDO:0024470	biolink:NamedThing	benign chondrogenic neoplasm	A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.	mondoexuq1wtf	benign cartilaginous neoplasm|benign tumor of cartilage|benign chondrogenic neoplasm|benign neoplasm of cartilage|benign neoplasm of the cartilage|benign cartilaginous tumor|benign tumor of the cartilage|chondrogenic neoplasm, benign|benign chondrogenic tumor											NCIT:C8592|SCTID:722690001|UMLS:C0852519																		owl:Class
MONDO:0011953	biolink:NamedThing	familial acute necrotizing encephalopathy	Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.	mondoexuq1wtf	recurrent acute necrotizing encephalopathy|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|encephalopathy, acute necrotizing, susceptibility to|autosomal dominant acute necrotizing encephalopathy|Postinfectious acute necrotizing hemorrhagic encephalopathy|acute necrotizing encephalopathy type 1|susceptibility to acute necrotizing encephalopathy|susceptibility to acute infection-induced encephalopathy-3|encephalopathy, acute, infection-induced, susceptibility to, 3|IIAE3|infection-induced acute encephalopathy 3|ANE1|susceptibility to infection-induced acute encephalopathy 3											GARD:0013232|SCTID:723359002|Orphanet:88619|OMIM:608033|UMLS:C4509836																		owl:Class
MONDO:0011165	biolink:NamedThing	glomerulopathy with fibronectin deposits 2	Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.	mondoexuq1wtf	FN1 fibronectin glomerulopathy|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy caused by mutation in FN1|GFND2|fibronectin glomerulopathy|glomerular nephritis familial with fibronectin deposits|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with fibronectin deposits type 2											GARD:0009914|OMIM:601894|SCTID:722759007																		owl:Class
MONDO:0016922	biolink:NamedThing	partial duplication of chromosome 2		mondoexuq1wtf	partial duplication of chromosome type 2|partial trisomy of chromosome 2											Orphanet:262196|SCTID:726340005																		owl:Class
MONDO:0010400	biolink:NamedThing	X-linked scapuloperoneal muscular dystrophy	X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.	mondoexuq1wtf	scapuloperoneal myopathy, FHL1-related|scapuloperoneal myopathy, X-linked dominant|X-linked scapuloperoneal syndrome|X-linked SPMD|SPM											ICD10:G71.0|OMIM:300695|GARD:0007608|Orphanet:431272|UMLS:C2678061																		owl:Class
MONDO:0010135	biolink:NamedThing	thyroid dyshormonogenesis 3	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.	mondoexuq1wtf	TDH3|familial thyroid dyshormonogenesis caused by mutation in TG|TG familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 3|hypothyroidism, congenital, due to dyshormonogenesis, 3|thyroid dyshormonogenesis 3|thyroid dyshormonogenesis type 3											OMIM:274700|UMLS:C0342194|SCTID:23536000|MESH:C562769																		owl:Class
MONDO:0026733	biolink:NamedThing	intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type		mondoexuq1wtf	MRXSHD|Mental Retardation, X-Linked, With Marfanoid Habitus, 2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE											OMIM:301039																		owl:Class
MONDO:0005937	biolink:NamedThing	REM sleep behavior disorder	A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)	mondoexuq1wtf	rapid eye movement sleep behavior disorder											ICD10:G47.52|ICD9:780.59|DOID:9091|SCTID:415238003|EFO:0007462|MESH:D020187|ICD9:327.42																		owl:Class
MONDO:0007047	biolink:NamedThing	punctate palmoplantar keratoderma type III	Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later	mondoexuq1wtf	PPKP3|collagenous plaques of hand and feet|punctate palmoplantar hyperkeratosis type 3|punctate palmoplantar keratoderma type 3|acrokeratoelastoidosis of Costa|TIA|palmoplantar keratoderma, punctate type 3|collagenous plaques of hands and feet|palmoplantar keratoderma, punctate type III|aganglionosis, total colonic|near-total intestinal aganglionosis|NTIA|rare form of Hirschsprung's disease|ake|acrokeratoelastoidosis					Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3						DOID:0060362|GARD:0000125|EFO:1000758|GARD:0000133|MESH:C535653|Orphanet:38|UMLS:C0545044|OMIM:101850|ICD10:Q82.8																		owl:Class
MONDO:0015730	biolink:NamedThing	mosaic trisomy 17	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	mondoexuq1wtf	Mosaic trisomy chromosome 17|chromosome 17 trisomy|trisomy 17 mosaicism|trisomy 17|chromosome 17, trisomy|chromosome 17, trisomy mosaicism|chromosome 17 duplication|Mosaic trisomy type 17											SCTID:764622004|ICD10:Q92.1|NCIT:C37865|UMLS:C1096168|GARD:0005317|MESH:C538044|Orphanet:1711																		owl:Class
MONDO:0007558	biolink:NamedThing	benign occipital epilepsy	Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.	mondoexuq1wtf	epilepsy, benign occipital|BOE											UMLS:C1851549|ICD10:G40.0|OMIM:132090|Orphanet:25968|GARD:0002170														https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital				owl:Class
MONDO:0003697	biolink:NamedThing	non-invasive verrucous carcinoma of the penis		mondoexuq1wtf	non-invasive verrucous carcinoma of penis|non-invasive penile verrucous carcinoma|non-invasive verrucous carcinoma of the penis|penis non-invasive verrucous carcinoma											DOID:5907|UMLS:C1334984|NCIT:C27791																		owl:Class
MONDO:0000339	biolink:NamedThing	spinal polio	A paralytic poliomyelitis in which the site of paralysis is the spinal cord.	mondoexuq1wtf												DOID:0050513																		owl:Class
MONDO:0006981	biolink:NamedThing	subacute bacterial endocarditis	Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.	mondoexuq1wtf	endocarditis lenta|Subacute bacterial endocarditis|SBE - Subacute bacterial endocarditis|SBE|Subacute endocarditis, lenta											MESH:D004698|UMLS:C0014122|EFO:1001193|SCTID:73774007|MedDRA:10042271|NCIT:C34583|DOID:4562																		owl:Class
MONDO:0008556	biolink:NamedThing	thrombocytopenia, cyclic		mondoexuq1wtf	thrombocytopenia cyclic|cyclic thrombocytopenia|thrombocytopenia, cyclic											GARD:0009862|OMIM:188020|UMLS:C0272282|MESH:C536899|SCTID:48788004|ICD9:287.39														https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia				owl:Class
MONDO:0010560	biolink:NamedThing	cleft palate with or without ankyloglossia, X-linked	X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	mondoexuq1wtf	cleft palate with or without ankyloglossia, X-linked|X-linked cleft palate|cleft palate, X-linked|CPX|X-linked cleft palate and ankyloglossia|cleft palate X-linked											MESH:C536426|ICD10:Q35.9|SCTID:766761000|Orphanet:324601|DOID:0060613|GARD:0001394|OMIM:303400														https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked				owl:Class
MONDO:0034150	biolink:NamedThing	idiopathic gastroparesis		mondoexuq1wtf												Orphanet:558411																		owl:Class
MONDO:0011911	biolink:NamedThing	craniolenticulosutural dysplasia	Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	mondoexuq1wtf	CLSD|cranio-lenticulo-sutural dysplasia, CLSD|Boyadjiev-Jabs syndrome|craniolenticulosutural dysplasia											OMIM:607812|UMLS:C1843042|SCTID:725100001|DOID:0070307|ICD10:Q75.8|Orphanet:50814|MESH:C564332																		owl:Class
MONDO:0000751	biolink:NamedThing	cervical polyp	A polyp that arises from the surface of the cervix.	mondoexuq1wtf	uterine cervix adenomatous polyp|adenomatous polyp of the cervix|cervix uteri adenomatous polyp|cervix uteri polyp|polyp of the cervix|cervix adenomatous polyp|adenomatous polyp of cervix|adenomatous polyp of uterine cervix|uterine cervix polyp|polyp of uterine cervix|cervical polyp (disease)|cervix polyp|cervical polyp|adenomatous polyp of the uterine cervix|polyp of the cervix uteri|polyp of cervix|polyp of cervix uteri|polyp of the uterine cervix		cervical polyp (disease)									ICD10:D26.9|UMLS:C0347493|COHD:4280498|ICD9:219|HP:0030159|ICD10:D26|DOID:0060325|UMLS:C0007855|SCTID:65576009|NCIT:C2939																		owl:Class
MONDO:0018034	biolink:NamedThing	thalidomide embryopathy	A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.	mondoexuq1wtf	thalidomide embryopathy syndrome|fetal thalidomide syndrome|thalidomide-induced birth defect											ICD10:Q86.8|UMLS:C0432365|GARD:0002313|MedDRA:10071249|SCTID:36193003|ICD9:759.89|NCIT:C99082|Orphanet:3312																		owl:Class
MONDO:0010367	biolink:NamedThing	SHOX-related short stature	SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.	mondoexuq1wtf	short stature, idiopathic, X-linked|ISS											ICD10:Q87.1|EFO:0008989|MESH:C564479|SCTID:763868006|OMIM:300582|Orphanet:314795																		owl:Class
MONDO:0006361	biolink:NamedThing	penile fibromatosis	Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.	mondoexuq1wtf	Peyronie's disease|penis fibromatosis|penile induration|Peyronie's fibromatosis|penile fibromatosis											EFO:1000466|NCIT:C3316																		owl:Class
MONDO:0003306	biolink:NamedThing	atypical neurofibroma	A neurofibroma characterized by the presence of cellular pleomorphism.	mondoexuq1wtf	atypical neurofibroma											NCIT:C41426|UMLS:C1510961|DOID:5153																		owl:Class
MONDO:0022772	biolink:NamedThing	classic Kaposi sarcoma	A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.	mondoexuq1wtf	Kaposi sarcoma, classic|classic Kaposi sarcoma|classic Kaposi's sarcoma|Kaposi sarcoma classical type|Kaposi's sarcoma, classical type											UMLS:C0279084|NCIT:C9112																		owl:Class
MONDO:0033548	biolink:NamedThing	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies		mondoexuq1wtf	MYODRIF|Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES											OMIM:618975																		owl:Class
MONDO:0012629	biolink:NamedThing	paroxysmal nonkinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.	mondoexuq1wtf	paroxysmal nonkinesigenic dyskinesia type 2|PNKD2|paroxysmal nonkinesigenic dyskinesia 2|dystonia 20											ICD10:G24.8|OMIM:611147|UMLS:C1970149|MESH:C567001|DOID:0090047																		owl:Class
MONDO:0010077	biolink:NamedThing	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	mondoexuq1wtf	Smed-SL/Ac|spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-hand type|Smed, short limb-hand type|Smed-SL|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type|SMED type 2|Smed, short limb-abnormal calcification type|spondylometaepiphyseal dysplasia, short limb-hand type|Smed, type 2|SMED short limb-hand type											MESH:C564794|GARD:0010616|OMIM:271665|ICD10:Q77.7|Orphanet:93358|UMLS:C1849011																		owl:Class
MONDO:0100375	biolink:NamedThing	acute myeloid leukemia, t(15;17)(q24;q21)	Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)	mondoexuq1wtf	AML, t(15;17)(q22;q12)|AML, t(15;17)(q24;q21)|AML, t(15;17)(q22;q21)											NCIT:C36055																		owl:Class
MONDO:0017087	biolink:NamedThing	neurenteric cyst		mondoexuq1wtf												Orphanet:268865																		owl:Class
MONDO:0004583	biolink:NamedThing	transient retinal arterial occlusion	A partial, temporary occlusion of the retinal artery.	mondoexuq1wtf	transient retinal arterial occlusion|transient arterial retinal occlusion|retinal transient arterial occlusion											SCTID:87224000|COHD:433195|UMLS:C0154840|ICD10:H34.0|ICD9:362.34|DOID:8482|NCIT:C35193																		owl:Class
MONDO:0004054	biolink:NamedThing	acute canaliculitis		mondoexuq1wtf	acute canaliculitis, lacrimal|acute lacrimal canaliculitis											ICD10:H04.33|COHD:436414|SCTID:84399007|UMLS:C0339130|ICD9:375.31|DOID:6969																		owl:Class
MONDO:0004055	biolink:NamedThing	acute inflammation of lacrimal passage		mondoexuq1wtf												ICD10:H04.3|ICD9:375.3|UMLS:C0339129|SCTID:302900006|DOID:6970																		owl:Class
MONDO:0014020	biolink:NamedThing	hereditary spastic paraplegia 55		mondoexuq1wtf	spastic paraplegia 55, autosomal recessive|SPG55|hereditary spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|autosomal recessive spastic paraplegia type 55											OMIM:615035|ICD10:G11.4|UMLS:C4510214|UMLS:C3539506|DOID:0110807|SCTID:723825006|Orphanet:320375																		owl:Class
MONDO:0016309	biolink:NamedThing	Niemann-Pick disease type C, juvenile neurologic onset		mondoexuq1wtf	Niemann-Pick disease type C, classic form											UMLS:CN201115|Orphanet:216981|ICD10:E75.2																		owl:Class
MONDO:0014914	biolink:NamedThing	Dias-Logan syndrome		mondoexuq1wtf	Dias-Logan syndrome; DILOS|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin|DILOS|intellectual developmental disorder with persistence of fetal Hemoglobin|Dias-Logan syndrome|intellectual developmental disorder with persistence of fetal HEMOGLOBIN|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin											UMLS:C4310833|OMIM:617101																		owl:Class
MONDO:0035349	biolink:NamedThing	localized dystrophic epidermolysis bullosa	A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.	mondoexuq1wtf	localized DEB											Orphanet:595356																		owl:Class
MONDO:0001506	biolink:NamedThing	prostatocystitis		mondoexuq1wtf												ICD10:N41.3|DOID:12355|ICD9:601.3|UMLS:C0156291|SCTID:67685000																		owl:Class
MONDO:0015025	biolink:NamedThing	developmental and epileptic encephalopathy, 51	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.	mondoexuq1wtf	EIEE51|epileptic encephalopathy, early infantile, type 51|epileptic encephalopathy, early infantile, 51; EIEE51|MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51|DEE51|early infantile epileptic encephalopathy caused by mutation in MDH2											OMIM:617339|UMLS:C4479208|DOID:0080433|UMLS:CN240510																		owl:Class
MONDO:0003140	biolink:NamedThing	immune-complex glomerulonephritis	Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.	mondoexuq1wtf	immune Complex glomerulonephritis											ICD9:583.89|DOID:4784|UMLS:C0744421|SCTID:123752003|NCIT:C35800																		owl:Class
MONDO:0001720	biolink:NamedThing	gonococcal synovitis	An synovitis (disease) caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	gonococcal synovitis and tenosynovitis|gonococcal synovitis &/or tenosynovitis|gonococcal synovitis or tenosynovitis											DOID:13454|UMLS:C0343714|ICD9:098.51|UMLS:C0275662|SCTID:266138002																		owl:Class
MONDO:0007342	biolink:NamedThing	clubfoot	The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.	mondoexuq1wtf	talipes equinovarus|congenital talipes equinovarus|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|club foot|clubbed foot|equinovarus deformity of foot|equinovarus deformity of foot (finding)|congenital equinovarus|talipes|CCF|congenital clubfoot											SCTID:397932003|MESH:D003025|ICD10:Q66.0|ICD9:754.51|ICD10:Q66.89|DOID:11836|NCIT:C84641|OMIM:119800																		owl:Class
MONDO:0017636	biolink:NamedThing	hemiparkinsonism-hemiatrophy syndrome	Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	mondoexuq1wtf	Hp-HA syndrome											Orphanet:306669|ICD10:G20|UMLS:CN203531																		owl:Class
MONDO:0100071	biolink:NamedThing	cardiocutaneous syndrome	Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.	mondoexuq1wtf					2019-01-18 17:28:41+00:00																									owl:Class
MONDO:0019926	biolink:NamedThing	X small rings	X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.	mondoexuq1wtf												Orphanet:96201|SCTID:766760004|ICD10:Q99.8																		owl:Class
MONDO:0025159	biolink:NamedThing	pneumonia of swine, mycoplasmal	A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.	mondoexuq1wtf	swine enzootic pneumonia|pneumonia of swine, enzootic|enzootic pneumonia of swine|swine Mycoplasmal pneumonia|enzootic pneumonia of pigs|swine Mycoplasma pneumonia|Mycoplasma pneumonia of pigs|Mycoplasmal pneumonia of swine|Mycoplasma pneumonia of swine											UMLS:C1258090|MESH:D045729																		owl:Class
MONDO:0020443	biolink:NamedThing	absence of innominate vein	Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.	mondoexuq1wtf	absence of brachiocephalic vein											Orphanet:99112|ICD10:Q26.8																		owl:Class
MONDO:0009112	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 2	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.	mondoexuq1wtf	Dhapat deficiency|RCDP2|rhizomelic chondrodysplasia punctata type 2|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|GNPAT rhizomelic chondrodysplasia punctata|Glyceronephosphate O-acyltransferase deficiency|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|type 2 rhizomelic chondrodysplasia punctata|Rcdp2|Gnpat deficiency|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata, type 2|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|Dihydroxyacetonephosphate acyltransferase deficiency											Orphanet:309796|DOID:0110852|MESH:C537607|ICD10:Q77.3|GARD:0009429|UMLS:C1857242|OMIM:222765														https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2|https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0003030	biolink:NamedThing	endometrioid stromal sarcoma of the cervix	A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	mondoexuq1wtf	cervical endometrial stromal sarcoma|endometrioid stromal sarcoma of uterine cervix|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix|endometrioid stromal sarcoma of the cervix											DOID:4520|UMLS:C3642326|NCIT:C40220																		owl:Class
MONDO:0012611	biolink:NamedThing	polyhydramnios, megalencephaly, and symptomatic epilepsy		mondoexuq1wtf	polyhydramnios-megalencephaly-symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE|pretzel syndrome|PMSE syndrome											UMLS:C1970203|OMIM:611087|MESH:C567020|Orphanet:500533|GARD:0012913																		owl:Class
MONDO:0054791	biolink:NamedThing	leukodystrophy, hypomyelinating, 16		mondoexuq1wtf	HLD16|leukodystrophy, hypomyelinating, 16											OMIM:617964|UMLS:CN244907																		owl:Class
MONDO:0041052	biolink:NamedThing	postherpetic neuralgia		mondoexuq1wtf	PHN - post-herpetic neuralgia|postherpetic neuralgia|post-zoster neuralgia											SCTID:2177002|UMLS:C0032768																		owl:Class
MONDO:0013297	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1H	Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.	mondoexuq1wtf	limb-girdle muscular dystrophy type 1H|muscular dystrophy, limb-girdle, type 1H|LGMD1H|muscular dystrophy limb-girdle type 1H											DOID:0110303|UMLS:C3150786|ICD10:G71.0|OMIM:613530|Orphanet:238755|GARD:0012532																		owl:Class
MONDO:0001817	biolink:NamedThing	acute closed-angle glaucoma	Acute form of angle-closure glaucoma.	mondoexuq1wtf	angle-closure glaucoma, acute|acute angle-closure glaucoma											ICD9:365.22|DOID:13862|SCTID:30041005|COHD:436108|ICD10:H40.21|UMLS:C0154946																		owl:Class
MONDO:0020457	biolink:NamedThing	6-phosphogluconate dehydrogenase deficiency		mondoexuq1wtf												ICD10:D55.1|Orphanet:99135																		owl:Class
MONDO:0024558	biolink:NamedThing	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.	mondoexuq1wtf	thrombocytopenia, congenital, with radioulnar synostosis|RUSAT1|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|Rusat|radioulnar synostosis with amegakaryocytic thrombocytopenia 1											OMIM:605432																		owl:Class
MONDO:0022716	biolink:NamedThing	Chiari malformation type 4		mondoexuq1wtf	Chiari type IV malformation|Arnold Chiari malformation type IV|Chiari malformation type IV											SCTID:253187005|GARD:0009234														https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4				owl:Class
MONDO:0034041	biolink:NamedThing	congenital axonal neuropathy with encephalopathy	A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	mondoexuq1wtf												Orphanet:538101																		owl:Class
MONDO:0011890	biolink:NamedThing	Charcot-Marie-Tooth disease type 1D	A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	mondoexuq1wtf	HMSN1D|hereditary motor and sensory neuropathy 1D|HMSN 1D|HMSN ID|EGR2 Charcot-Marie-Tooth disease type 1|CMT1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|Charcot-Marie-Tooth neuropathy, type 1D|Charcot-Marie-Tooth neuropathy type 1D|Charcot Marie Tooth disease type 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D|CMT 1D											DOID:0110150|ICD10:G60.0|Orphanet:101084|SCTID:719979008|OMIM:607678|GARD:0009189|MESH:C537985|UMLS:C1843247														https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d				owl:Class
MONDO:0016699	biolink:NamedThing	myxopapillary ependymoma	Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.	mondoexuq1wtf	myxopapillary ependymoma|myxopapillary ependymoma (morphologic abnormality)|ependymoma, benign											DOID:5075|ONCOTREE:MPE|Orphanet:251643|ICD10:D43.2|UMLS:C0205769|ICDO:9394/1|NCIT:C3697|GARD:0010633														https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma				owl:Class
MONDO:0006076	biolink:NamedThing	adrenal gland neuroblastoma	A neuroblastoma arising from the adrenal gland.	mondoexuq1wtf	adrenal neuroblastoma|adrenal gland neuroblastoma|neuroblastoma of adrenal gland|neuroblastoma of the adrenal gland|neuroblastoma of the adrenal|neuroblastoma of adrenal											DOID:5718|EFO:1000075|UMLS:C0559460|NCIT:C4827|SCTID:281562007																		owl:Class
MONDO:0007869	biolink:NamedThing	Kyrle disease	Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.	mondoexuq1wtf	Kyrle's disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle disease											OMIM:149500|UMLS:C0263382|MESH:C538130|SCTID:34042008|GARD:0009738														https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease				owl:Class
MONDO:0007937	biolink:NamedThing	renal hypomagnesemia 2	Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	mondoexuq1wtf	magnesium loss, isolated renal|isolated autosomal dominant hypomagnesemia|FXYD2 primary hypomagnesemia|autosomal dominant primary hypomagnesemia with hypocalciuria|isolated renal magnesium wasting|HOMG2|hypomagnesemia 2, renal|magnesium wasting, renal|primary hypomagnesemia caused by mutation in FXYD2|familial primary hypomagnesemia caused by mutation in FXYD2|FXYD2 familial primary hypomagnesemia|renal hypomagnesemia type 2											Orphanet:34528|OMIM:154020|GARD:0003350|UMLS:C1835171|UMLS:C4511005|MESH:C537152|SCTID:725393000|ICD10:E83.4|DOID:0060885														https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2				owl:Class
MONDO:0017625	biolink:NamedThing	familial primary hypomagnesemia with hypocalcuria		mondoexuq1wtf												UMLS:CN227163|Orphanet:306519|SCTID:711151004																		owl:Class
MONDO:0015069	biolink:NamedThing	neuroendocrine tumor of the anal canal	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.	mondoexuq1wtf	neuroendocrine neoplasm of the anal canal|anal canal NET|anal canal neuroendocrine neoplasm|anal canal well differentiated tumor|NET of anal canal|NET of the anal canal|anal canal neuroendocrine tumor|neuroendocrine tumor of anal canal|anal Neuroendocrine tumor|anal canal well differentiated tumor/carcinoma|anal NET					Editor note: TODO apply G1/G2 pattern						UMLS:CN197362|Orphanet:100082|NCIT:C96540																		owl:Class
MONDO:0014348	biolink:NamedThing	intellectual disability, autosomal recessive 42	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive type 42|intellectual disability, autosomal recessive 42|MRT42|PGAP1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 42|glycosylphosphatidylinositol biosynthesis defect 9|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|mental retardation, autosomal recessive 42											OMIM:615802|UMLS:C4014343																		owl:Class
MONDO:0043185	biolink:NamedThing	pointer syndrome		mondoexuq1wtf	skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties											MESH:C536323|UMLS:C0796118|GARD:0004395																		owl:Class
MONDO:0014681	biolink:NamedThing	thyroid cancer, nonmedullary, 4	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.	mondoexuq1wtf	FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary caused by mutation in FOXE1|thyroid cancer, nonmedullary, 4|thyroid cancer, nonmedullary, type 4|NMTC4											UMLS:C4225293|OMIM:616534																		owl:Class
MONDO:0017232	biolink:NamedThing	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	mondoexuq1wtf	IDMDC											Orphanet:280384																		owl:Class
MONDO:0014908	biolink:NamedThing	microcephaly 17, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.	mondoexuq1wtf	CIT autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in cit|microcephaly 17, primary, autosomal recessive; MCPH17|microcephaly 17, primary, autosomal recessive|MCPH17|cit autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CIT											OMIM:617090|UMLS:C4310723|DOID:0070288																		owl:Class
MONDO:0006326	biolink:NamedThing	ocular melanoma with extraocular extension	A melanoma arising from and extending beyond the structures of the eye.	mondoexuq1wtf	extraocular extension of melanoma|extraocular extension melanoma|ocular melanoma with extraocular extension											NCIT:C7913|EFO:1000404|UMLS:C0278869																		owl:Class
MONDO:0017451	biolink:NamedThing	non-syndromic brachydactyly of fingers	A non-syndromic brachydactyly that involves the manus.	mondoexuq1wtf	manus non-syndromic brachydactyly|short fingers|non-syndromic brachydactyly of manus											Orphanet:294996|ICD10:Q71.8																		owl:Class
MONDO:0020409	biolink:NamedThing	univentricular heart with single atrio-ventricular valve		mondoexuq1wtf												Orphanet:99069|ICD10:Q20.4																		owl:Class
MONDO:0015451	biolink:NamedThing	univentricular heart	Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.	mondoexuq1wtf	Double inlet left ventricle											SCTID:253283000|Orphanet:1464|MedDRA:10045545|ICD10:Q20.4|ICD9:746.89																		owl:Class
MONDO:0049221	biolink:NamedThing	myopia 26, X-linked, female-limited		mondoexuq1wtf	myopia 26, X-linked, female-limited|MYP26											UMLS:C4538795|OMIM:301010																		owl:Class
MONDO:0004006	biolink:NamedThing	rete ovarii cystadenofibroma	An exceptionally rare cystadenofibroma that arises from the rete ovarii.	mondoexuq1wtf	cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma											DOID:6838|NCIT:C40020|UMLS:C1514906																		owl:Class
MONDO:0008326	biolink:NamedThing	pseudocholinesterase, increase in plasma level of		mondoexuq1wtf	pseudocholinesterase, increase in plasma level OF											OMIM:177600																		owl:Class
MONDO:0002048	biolink:NamedThing	thrombocytopenia due to immune destruction	A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).	mondoexuq1wtf	thrombocytopenia due to immune destruction|immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization|auto-immune thrombocytopenia											NCIT:C3991|GARD:0006768|DOID:1587																		owl:Class
MONDO:0010754	biolink:NamedThing	van den Bosch syndrome	Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.	mondoexuq1wtf	mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity|van den Bosch syndrome											Orphanet:3417|SCTID:733110004|OMIM:314500|UMLS:C0796192|GARD:0005453|MESH:C563129														https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome				owl:Class
MONDO:0004215	biolink:NamedThing	cutaneous anthrax	An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.	mondoexuq1wtf	skin anthrax|anthrax, skin type											ICD9:022.0|GARD:0008158|SCTID:84980006|UMLS:C0003177|DOID:7426|ICD10:A22.0|MESH:C531621														https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax				owl:Class
MONDO:0017839	biolink:NamedThing	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.	mondoexuq1wtf	classic 21-OHD CAH, salt wasting form											Orphanet:315306|ICD10:E25.0																		owl:Class
MONDO:0010398	biolink:NamedThing	syndromic X-linked intellectual disability 14	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.	mondoexuq1wtf	mental retardation, X-linked, syndromic type 14|syndromic X-linked intellectual disability type 14|UPF3B X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic type 14|intellectual disability, X-linked, syndromic 14|X-linked syndromic intellectual disability caused by mutation in UPF3B|mental retardation, X-linked, syndromic 14|MRXS14											ICD10:Q87.8|OMIM:300676|DOID:0060821|MESH:C567063|UMLS:C1970822																		owl:Class
MONDO:0019559	biolink:NamedThing	hypertrophic or verrucous lupus erythematosus		mondoexuq1wtf												UMLS:CN227653|Orphanet:90282|ICD10:L93.2																		owl:Class
MONDO:0020007	biolink:NamedThing	absence of the pulmonary artery	Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.	mondoexuq1wtf												Orphanet:980|ICD10:Q25.7|UMLS:CN206941																		owl:Class
MONDO:0009745	biolink:NamedThing	neuronal ceroid lipofuscinosis 5	Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	mondoexuq1wtf	neuronal ceroid lipofuscinosis Finnish variant|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|neuronal ceroid lipofuscinosis 5 variable age of onset|CLN5 disease, late infantile (subtype)|Finnish Vlincl|ceroid lipofuscinosis, neuronal, type 5|CLN5 disease, adult|neuronal ceroid lipofuscinosis type 5|neuronal ceroid lipofuscinosis caused by mutation in CLN5|CLN5 disease, juvenile|CLN5 disease|ceroid lipofuscinosis, neuronal, 5|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|CLN5 neuronal ceroid lipofuscinosis|CLN5											GARD:0001223|DOID:0110728|Orphanet:228360|MESH:C575534|ICD10:E75.4|OMIM:256731														https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5				owl:Class
MONDO:0023003	biolink:NamedThing	double fingernail of fifth finger		mondoexuq1wtf						Editor note: consider making a grouping class with MONDO:0007469						GARD:0001906														https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger				owl:Class
MONDO:0002968	biolink:NamedThing	lymphocele	A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.	mondoexuq1wtf	lymph cyst											UMLS:C0024248|MESH:D008210|ICD9:457.8|DOID:4347|SCTID:234110002																		owl:Class
MONDO:0017723	biolink:NamedThing	Sandhoff disease, adult form	A Sandhoff disease that occurs in an adult.	mondoexuq1wtf	Sandhoff disease of adults|adult Sandhoff disease|Hexosaminidases A and B deficiency, adult form|adult GM2 gangliosidosis 0 variant											UMLS:CN203619|ICD10:E75.0|Orphanet:309169																		owl:Class
MONDO:0021288	biolink:NamedThing	carcinoma in situ of hypopharynx	A in situ carcinoma that involves the hypopharynx.	mondoexuq1wtf	stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal carcinoma aJCC v6|stage 0 hypopharyngeal carcinoma aJCC v8|carcinoma in situ of the hypopharynx|hypopharynx in situ carcinoma|hypopharynx carcinoma in situ|stage 0 hypopharyngeal carcinoma in situ|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal throat cancer|hypopharyngeal carcinoma in situ|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal cancer|carcinoma in situ of hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 carcinoma of hypopharynx|stage 0 carcinoma of the hypopharynx											NCIT:C9101|UMLS:C4331310|UMLS:C0347100|SCTID:92612007																		owl:Class
MONDO:0013114	biolink:NamedThing	autosomal dominant nonsyndromic deafness 50	An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.	mondoexuq1wtf	deafness, autosomal dominant 50|DFNA50|deafness, autosomal dominant type 50|autosomal dominant nonsyndromic deafness type 50|autosomal dominant deafness 50											ICD10:H90.3|DOID:0110576|OMIM:613074																		owl:Class
MONDO:0019867	biolink:NamedThing	mosaic trisomy 8	Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	mondoexuq1wtf	Mosaic trisomy chromosome 8|Warkany syndrome|Mosaic trisomy type 8|trisomy 8 mosaicism											SCTID:717335009|GARD:0005359|MESH:C537940|ICD10:Q92.1|Orphanet:96061|MedDRA:10053916														https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8				owl:Class
MONDO:0007368	biolink:NamedThing	familial benign copper deficiency	Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	familial benign hypocupremia|copper deficiency, familial benign											GARD:0001522|OMIM:121270|UMLS:C1852576|SCTID:763531001|Orphanet:1551|MESH:C535468|ICD10:E83.0														https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign				owl:Class
MONDO:0017762	biolink:NamedThing	disorder of copper metabolism	An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.	mondoexuq1wtf	inborn cellular copper ion homeostasis disorder|inborn error of cellular copper ion homeostasis|copper Transport disorders|rare inborn error of cellular copper ion homeostasis											MedDRA:10061091|COHD:436672|ICD9:275.1|UMLS:CN043585|UMLS:C0012714|Orphanet:309839|ICD10:E83.0|SCTID:79886009																		owl:Class
MONDO:0005832	biolink:NamedThing	lymphangitis	Inflammation of the lymphatic vessels.	mondoexuq1wtf	inflammation of lymphatic vessel|lymphatic vessel inflammation											NCIT:C34790|EFO:0007351|SCTID:1415005|UMLS:C0024225|ICD10:I89.1|DOID:9317|MESH:D008205|COHD:439840|ICD9:457.2																		owl:Class
MONDO:0034022	biolink:NamedThing	Bethlem myopathy 2		mondoexuq1wtf	myopathic EDS|Bethlem myopathy type 2|Ehlers-Danlos syndrome, myopathic type|myopathic Ehlers-Danlos syndrome|EDS, myopathic type|BTHLM2|Bethlem myopathy caused by mutation in COL12A1|COL12A1 Bethlem myopathy|Bethlem myopathy 2											UMLS:C4225313|Orphanet:536516|OMIM:616471																		owl:Class
MONDO:0013353	biolink:NamedThing	intellectual disability, anterior maxillary protrusion, and strabismus		mondoexuq1wtf	mental retardation, anterior maxillary protrusion, and strabismus|MRAMS|intellectual disability, anterior maxillary protrusion, and strabismus											UMLS:C3150924|Orphanet:562559|OMIM:613671																		owl:Class
MONDO:0014754	biolink:NamedThing	primary coenzyme Q10 deficiency 8	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.	mondoexuq1wtf	primary coenzyme Q10 deficiency 8|COQ10D8|coenzyme Q10 deficiency, primary, 8|COQ7 coenzyme Q10 deficiency|coenzyme Q10 deficiency caused by mutation in COQ7|coenzyme Q10 deficiency, primary, type 8											OMIM:616733|UMLS:C4225226|DOID:0070245																		owl:Class
MONDO:0018164	biolink:NamedThing	arterial thoracic outlet syndrome	Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.	mondoexuq1wtf	ATOS|arterial scalenus anticus syndrome|arterial cervical rib syndrome|arterial thoracic outlet compression syndrome|arterial TOS|arterial costoclavicular syndrome|arterial hyperabduction syndrome											Orphanet:357107|ICD10:G54.0|UMLS:C1956395|SCTID:8051000119105																		owl:Class
MONDO:0002190	biolink:NamedThing	vulvar syringoma	A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.	mondoexuq1wtf	mammalian vulva syringoma|syringoma of mammalian vulva|vulvar syringoma											DOID:2064|NCIT:C40311|UMLS:C1520099																		owl:Class
CL:0000595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011169	biolink:NamedThing	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	mondoexuq1wtf	Klick syndrome|keratosis linearis with ichthyosis congenita and sclerosing keratoderma|KLICK syndrome|KLICK											SCTID:763775000|UMLS:C1866029|Orphanet:281201|OMIM:601952|ICD10:Q82.8|MESH:C566600																		owl:Class
MONDO:0009505	biolink:NamedThing	lactic aciduria due to D-lactic acid		mondoexuq1wtf	lactic aciduria due to d-lactic acid											MESH:C565446|OMIM:245450|UMLS:C1855552																		owl:Class
MONDO:0008670	biolink:NamedThing	Waardenburg syndrome type 1	Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.	mondoexuq1wtf	Waardenburg syndrome type I|WS1|Waardenburg syndrome, type 1|Waardenburg's syndrome type 1|Waardenburg syndrome with dystopia canthorum											UMLS:C1847800|ICD10:E70.3|GARD:0005519|DOID:0110948|NCIT:C75008|Orphanet:894|OMIM:193500														https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1				owl:Class
MONDO:0001046	biolink:NamedThing	imperforate anus	A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.	mondoexuq1wtf	anus, imperforate|congenital atresia of anus|anal atresia|imperforate anus|congenital or infantile occlusion of anus|anorectal malformations|anal stenosis											GARD:0006769|OMIM:301800|SCTID:204731006|NCIT:C84784|DOID:10488|MESH:D001006|OMIM:207500|ICD10:Q42.3																		owl:Class
MONDO:0020178	biolink:NamedThing	palpebral lentiginosis	A lentigo that involves the skin of eyelid.	mondoexuq1wtf	skin of eyelid lentigo											Orphanet:98587																		owl:Class
MONDO:0012859	biolink:NamedThing	autosomal recessive osteopetrosis 7	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.	mondoexuq1wtf	TNFRSF11A osteopetrosis (disease)|osteopetrosis autosomal recessive 7|osteopetrosis, autosomal recessive 7|osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7|osteopetrosis, autosomal recessive type 7|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|OPTB7|osteopetrosis-hypogammaglobulinemia syndrome|osteopetrosis (disease) caused by mutation in TNFRSF11A|osteopetrosis osteoclast-poor with hypogammaglobulinemia|osteoclast-poor osteopetrosis with hypogammaglobulinemia											MESH:C567354|DOID:0110946|OMIM:612301|GARD:0010106|ICD10:Q78.2|Orphanet:178389|UMLS:C2676766														https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7				owl:Class
MONDO:0006126	biolink:NamedThing	cecum neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	mondoexuq1wtf	caecum NET G1|carcinoid tumor of cecum|carcinoid tumor of the cecum|cecum carcinoid tumor|caecum neuroendocrine tumor, well differentiated, low grade|caecum carcinoid tumor|caecum carcinoid tumor (disease)|caecum neuroendocrine neoplasm G1|cecum neuroendocrine tumor G1|cecum NET G1|caecal carcinoid tumor|grade 1 neuroendocrine neoplasm of caecum|cecal carcinoid tumor											NCIT:C5501|EFO:1000154|UMLS:C0854488																		owl:Class
MONDO:0014537	biolink:NamedThing	nephronophthisis 19	Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.	mondoexuq1wtf	nephronophthisis type 19|nephronophthisis (disease) caused by mutation in DCDC2|DCDC2 nephronophthisis (disease)|nephronophthisis 19|NPHP19											OMIM:616217|DOID:0111126|UMLS:C4015542																		owl:Class
MONDO:0003928	biolink:NamedThing	uterine corpus myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	mondoexuq1wtf	body of uterus myxoid leiomyosarcoma|uterine corpus myxoid leiomyosarcoma|uterine myxoid leiomyosarcoma|myxoid leiomyosarcoma of body of uterus											NCIT:C40175|UMLS:C1519861|DOID:6567|ONCOTREE:UMLMS																		owl:Class
MONDO:0054805	biolink:NamedThing	microcephaly 22, primary, autosomal recessive		mondoexuq1wtf	microcephaly 22, PRIMARY, autosomal recessive|MCPH22											OMIM:617984																		owl:Class
MONDO:0011599	biolink:NamedThing	birdshot chorioretinopathy	Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.	mondoexuq1wtf	multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|birdshot chorioretinopathy|Bscr|birdshot retinochoroiditis|birdshot retinochoroidopathy|BSCR|birdshot chorioretinitis|vitiliginous choroiditis											OMIM:605808|SCTID:231981005|DOID:0111079|UMLS:C1853959|Orphanet:179|GARD:0005926|MESH:C537630|ICD10:H30.1|UMLS:C0339402														https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy				owl:Class
MONDO:0014021	biolink:NamedThing	familial episodic pain syndrome with predominantly upper body involvement		mondoexuq1wtf	FEPS1|episodic pain syndrome, familial, type 1|episodic pain syndrome, familial, 1											Orphanet:391389|OMIM:615040|UMLS:CN204968|UMLS:C3808667|ICD10:M79.6																		owl:Class
MONDO:0018319	biolink:NamedThing	familial episodic pain syndrome		mondoexuq1wtf	FEPS											DOID:0111728|GARD:0012684|UMLS:CN204967|UMLS:CN228162|OMIMPS:615040|Orphanet:391384|ICD10:M79.6														https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome				owl:Class
MONDO:0014691	biolink:NamedThing	Noonan syndrome 9	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.	mondoexuq1wtf	SOS2 Noonan syndrome|Noonan syndrome 9|NS9|Noonan syndrome caused by mutation in SOS2|Noonan syndrome type 9											UMLS:C4225282|DOID:0060587|OMIM:616559																		owl:Class
MONDO:0002789	biolink:NamedThing	hemangiopericytic tumor	A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.	mondoexuq1wtf	hemangiopericytic neoplasm					Editor note: TODO check relationship to spindle cell tumor						DOID:3850|NCIT:C7076|UMLS:C0476144|EFO:1000289																		owl:Class
MONDO:0001166	biolink:NamedThing	nephritis	Inflammation of renal tissue.	mondoexuq1wtf	inflammation of kidney|kidney inflammation											ICD9:583.9|ICD10:N05|UMLS:C0027697|NCIT:C26833|MESH:D009393|ICD9:583.7|ICD9:583.89|COHD:193253|ICD10:N08|SCTID:52845002|DOID:10952																		owl:Class
MONDO:0004836	biolink:NamedThing	intravascular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	mondoexuq1wtf	intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis											SCTID:254738007|ICD9:728.79|NCIT:C4729|DOID:9603|UMLS:C0432529																		owl:Class
MONDO:0008767	biolink:NamedThing	neuronal ceroid lipofuscinosis 3	A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	mondoexuq1wtf	CLN3|ceroid lipofuscinosis, neuronal, type 3|neuronal ceroid lipofuscinosis, juvenile|CLN3 disease|batten disease|Spielmeyer Sjogren disease|ceroid lipofuscinosis, neuronal, 3|CLN3 disease, juvenile|neuronal ceroid lipofuscinosis caused by mutation in CLN3|neuronal ceroid lipofuscinosis type 3|Vogt-Spielmeyer disease|Vogt Spielmeyer disease|CLN3 neuronal ceroid lipofuscinosis|Spielmeyer-Sjogren disease											OMIM:204200|DOID:0110731|NCIT:C61258|ICD10:E75.4|Orphanet:228346|GARD:0005897																		owl:Class
MONDO:0012221	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	mondoexuq1wtf	neuroaxonal dystrophy, Schindler type|Schindler disease type I|alpha-N-acetylgalactosaminidase deficiency, type 1|NAGA deficiency, type 1|NAGA deficiency, type 3|Schindler disease, type 1|N-acetyl-alpha-D-galactosaminidase deficiency type III|NAGA deficiency type 1|Schindler disease, type I|Alpha-N-acetylgalactosaminidase deficiency, type 1|Schindler disease, type 3|Schindler disease type 1|Alpha-N-acetylgalactosaminidase deficiency, type 3											OMIM:609241|GARD:0000116|ICD10:E77.1|GARD:0003903|Orphanet:79279																		owl:Class
MONDO:0000974	biolink:NamedThing	axillary lipoma	A benign adipose tissue neoplasm of the axilla.	mondoexuq1wtf	axillary lipoma|lipoma of axilla|axilla lipoma											NCIT:C35419|DOID:10205|ICD9:214.8|UMLS:C0347429|SCTID:188993006																		owl:Class
MONDO:0003822	biolink:NamedThing	non-invasive bladder papillary urothelial neoplasm	A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.	mondoexuq1wtf	bladder papillary neoplasm of low malignant potential|non-invasive bladder papillary urothelial neoplasm|bladder PUNLMP|papillary urothelial neoplasm of low malignant potential											NCIT:C39831|DOID:6239|UMLS:C1518358																		owl:Class
MONDO:0012881	biolink:NamedThing	major affective disorder 7		mondoexuq1wtf	major affective disorder type 7|bipolar affective disorder|MAFD7|major affective disorder 7											OMIM:612371|MESH:C567529																		owl:Class
MONDO:0003100	biolink:NamedThing	nerve plexus neoplasm	A neoplasm (disease) that involves the nerve plexus.	mondoexuq1wtf	neural plexus neoplasms|nerve plexus tumors|nerve plexus neoplasm (disease)|nerve plexus neoplasm|tumor of the nerve plexus|nerve plexus tumor|neural plexus tumors|neoplasm of the nerve plexus|tumor of nerve plexus|nerve plexus neoplasms|neoplasm of nerve plexus											DOID:4693|NCIT:C5822|UMLS:C1334945																		owl:Class
MONDO:0014604	biolink:NamedThing	Parkinson disease 21	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.	mondoexuq1wtf	Parkinson disease 21|hereditary late onset Parkinson disease caused by mutation in DNAJC13|Parkinson disease type 21|PARK21|DNAJC13 hereditary late onset Parkinson disease											UMLS:C4225353|DOID:0111251|OMIM:616361																		owl:Class
MONDO:0009379	biolink:NamedThing	Rotor syndrome	Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.	mondoexuq1wtf	hyperbilirubinemia, ROTOR type|hyperbilirubinemia, Rotor type|Rotor syndrome|HBLRR|Rotor-type hyperbilirubinemia											MedDRA:10039234|OMIM:237450|UMLS:C0220991|GARD:0000218|SCTID:32891000|Orphanet:3111|ICD10:E80.6														https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome				owl:Class
MONDO:0044624	biolink:NamedThing	pediatric collagenous gastritis		mondoexuq1wtf	childhood-onset collagenous gastritis											Orphanet:487809																		owl:Class
MONDO:0009665	biolink:NamedThing	biotinidase deficiency	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.	mondoexuq1wtf	late-onset multiple carboxylase deficiency|BTD deficiency|deficiency of biotinidase|multiple carboxylase deficiency, juvenile-onset|late-onset biotin-responsive multiple carboxylase deficiency|multiple carboxylase deficiency, late-onset|biotinidase deficiency|juvenile-onset multiple carboxylase deficiency|biotin deficiency											MESH:D028921|DOID:856|OMIM:253260|NCIT:C84598|Orphanet:79241|GARD:0000894|ICD10:D81.810|MedDRA:10071434|UMLS:C0220754|ICD10:E53.8|SCTID:8808004|UMLS:CN043572|ICD9:277.6																		owl:Class
MONDO:0010102	biolink:NamedThing	taurodontia-absent teeth-sparse hair syndrome	This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	mondoexuq1wtf	teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, and sparse hair|taurodontia, absent teeth, sparse hair syndrome											MESH:C536945|OMIM:272980|UMLS:C1848909|Orphanet:2731|GARD:0005118														https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome				owl:Class
MONDO:0020603	biolink:NamedThing	X-linked chondrodysplasia punctata 2	X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.	mondoexuq1wtf	Conradi-Hunermann-Happle syndrome|Conrad Hunermann Happle syndrome|CDPX2|Conradi Hunermann syndrome|Conradi-Hunermann syndrome|X-linked chondrodysplasia punctata type 2|chondrodysplasia punctata 2, X-linked dominant|CDPXD|EBP chondrodysplasia punctata|Happle syndrome|chondrodysplasia punctata caused by mutation in EBP|Conradi-Hünermann-Happle syndrome|chondrodysplasia punctata 2 X-linked dominant											DOID:0080352|Orphanet:35173|GARD:0006189														https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant				owl:Class
MONDO:0002077	biolink:NamedThing	low implantation of placenta		mondoexuq1wtf												ICD9:641.0|ICD10:O44.0|SCTID:7792000|DOID:1677																		owl:Class
MONDO:0005918	biolink:NamedThing	placenta praevia	Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.	mondoexuq1wtf	placenta praevia|placenta previa											ICD10:O44|EFO:0007442|NCIT:C26858|SCTID:36813001|DOID:11060|MESH:D010923																		owl:Class
MONDO:0013199	biolink:NamedThing	tuberous sclerosis 2	Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).	mondoexuq1wtf	TSC2|tuberous sclerosis 2|tuberous sclerosis, type 2|tuberous sclerosis type 2|TSC2 Angiomyolipomas, renal, modifier of											NCIT:C75331|GARD:0005381|DOID:0080325|OMIM:613254																		owl:Class
MONDO:0016903	biolink:NamedThing	partial deletion of the long arm of chromosome 4	Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	partial deletion of the long arm of chromosome type 4|chromosome 4q deletion|deletion 4q|monosomy 4q|partial monosomy of chromosome 4q|partial deletion of chromosome 4q|partial monosomy 4q|partial monosomy of the long arm of chromosome 4|4q monosomy|4q deletion											GARD:0001340|MESH:C537639|ICD10:Q93.5|Orphanet:262029																		owl:Class
MONDO:0054573	biolink:NamedThing	Lopes-Maciel-Rodan syndrome		mondoexuq1wtf	LOMARS|Lopes-Maciel-Rodan syndrome											OMIM:617435|UMLS:C4479491																		owl:Class
MONDO:0012706	biolink:NamedThing	familial temporal lobe epilepsy 4	A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.	mondoexuq1wtf	familial temporal lobe epilepsy type 4|occipitotemporal lobe epilepsy and migraine with aura|ETL4|epilepsy, occipitotemporal lobe, and migraine with aura|epilepsy, familial temporal lobe, 4|EPOLM											UMLS:C1968847|MESH:C566902|DOID:0060753|OMIM:611631																		owl:Class
MONDO:0005115	biolink:NamedThing	temporal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)	mondoexuq1wtf	epilepsy, familial temporal lobe|epilepsy of temporal lobe|temporal lobe epilepsy|epilepsy, temporal lobe											DOID:3328|SCTID:193000002|EFO:0000773|NIFSTD:birnlex_12733|MESH:D004833|UMLS:C0014556|OMIMPS:600512																		owl:Class
MONDO:0003809	biolink:NamedThing	malignant mediastinum hemangiopericytoma	A malignant hemangiopericytoma arising in the mediastinum.	mondoexuq1wtf	malignant mediastinal hemangiopericytoma|malignant hemangiopericytoma of mediastinum|mediastinum spindle cell tumor|malignant hemangiopericytoma of the mediastinum|mediastinum hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						NCIT:C6608|UMLS:C1334598|DOID:6209																		owl:Class
MONDO:0021386	biolink:NamedThing	neoplasm of mediastinum	A neoplasm (disease) that involves the mediastinum.	mondoexuq1wtf	mediastinum neoplasm (disease)|neoplasm of mediastinum|mediastinum tumor|mediastinum neoplasm|mediastinal neoplasm|mediastinal tumor|neoplasm of the mediastinum|tumor of mediastinum|tumor of the mediastinum											SCTID:126725000|NCIT:C3221|ICD9:239.89																		owl:Class
MONDO:0008660	biolink:NamedThing	autosomal dominant hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.	mondoexuq1wtf	autosomal dominant hereditary hypophosphatemic rickets|vitamin D-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant|autosomal dominant hypophosphatemia|hypophosphatemic rickets, autosomal dominant|hereditary hypophosphatemic rickets, autosomal dominant|ADHR											UMLS:C0342642|MESH:C562791|SCTID:237889002|OMIM:193100|ICD10:E83.3|DOID:0050948|Orphanet:89937																		owl:Class
MONDO:0013808	biolink:NamedThing	Maffucci syndrome	Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.	mondoexuq1wtf	Maffucci syndrome|Chondroplasia angiomatosis|hemangiomata with Dyschondroplasia|multiple enchondromatosis, Maffucci type|Dyschondroplasia and cavernous hemangioma|enchondromatosis with hemangiomata|enchondromatosis with multiple cavernous hemangiomas|hemangiomatosis Chondrodystrophica|Kast syndrome|multiple Angiomas and Endochondromas|chondrodysplasia with hemangioma|Dyschondrodysplasia with hemangiomas|Maffucci's anomalad											ICD10:Q78.4|OMIM:614569|Orphanet:163634|NCIT:C3213|DOID:0060221|SCTID:46041001|GARD:0006958|UMLS:C0024454														https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome				owl:Class
MONDO:0006192	biolink:NamedThing	endometrial endometrioid adenocarcinoma	A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.	mondoexuq1wtf	endometrioid adenocarcinoma of the endometrium|endometrioid adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma|uterine corpus endometrioid adenocarcinoma|uterine endometrioid carcinoma|endometrioid carcinoma of the endometrium|uterine corpus endometrioid carcinoma|endometrioid carcinoma of endometrium|endometrioid endometrial adenocarcinoma|endometrioid endomet. adenocar.											NCIT:C6287|EFO:1000233|ONCOTREE:UEC|UMLS:C1336905																		owl:Class
MONDO:0024421	biolink:NamedThing	short stature contractures hypotonia		mondoexuq1wtf	Hennekam Koss de Geest syndrome					Editor note: disappeared from Orphanet?						GARD:0004839																		owl:Class
MONDO:0015416	biolink:NamedThing	Tessier number 5 facial cleft		mondoexuq1wtf												ICD10:Q18.8|Orphanet:141261																		owl:Class
MONDO:0009069	biolink:NamedThing	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	mondoexuq1wtf	cytochrome C oxidase deficiency, French-Canadian type|Leigh syndrome, French Canadian type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|Cox deficiency, Saguenay Lac saint Jean type|Leigh syndrome, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|cytochrome C oxidase deficiency, French Canadian type|COX deficiency, French-Canadian type|Leigh syndrome, Saguenay-Lac-Saint-Jean type|Leigh syndrome, French-Canadian type|LSFC|Cox deficiency, Saguenay-Lac-Saint-Jean type|SLSJ-COX deficiency											OMIM:220111|SCTID:718219002|GARD:0008370|ICD10:G31.8|MESH:C537004|Orphanet:70472																		owl:Class
MONDO:0001971	biolink:NamedThing	farmer's lung disease	Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.	mondoexuq1wtf	farmer lung|farmer's lung|Farmers lung											ICD10:J67.0|COHD:435298|Orphanet:99906|ICD9:495.0|MedDRA:10016221|NCIT:C34605|SCTID:18690003|DOID:14453|UMLS:C0015634|GARD:0006427														https://rarediseases.info.nih.gov/diseases/6427/farmers-lung				owl:Class
MONDO:0003688	biolink:NamedThing	well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.	mondoexuq1wtf	well-differentiated papillary neoplasm of the mesothelium|well differentiated papillary mesothelioma|well-differentiated papillary tumor of the mesothelium|well-differentiated papillary neoplasm of mesothelium|WDPM|well-differentiated mesothelial papillary tumor|well-differentiated mesothelial papillary neoplasm|well-differentiated papillary tumor of mesothelium|benign/Intermediate mesothelioma|benign intermediate mesothelioma											NCIT:C7635|ICDO:9052/1|DOID:5884|UMLS:C1337012																		owl:Class
MONDO:0024891	biolink:NamedThing	non-infectious meningitis		mondoexuq1wtf	non-infective meningitis											SCTID:230155003|UMLS:C0393442																		owl:Class
MONDO:0010353	biolink:NamedThing	deafness-intellectual disability, Martin-Probst type syndrome	Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.	mondoexuq1wtf	deafness-intellectual disability syndrome, Martin-Probst type|Martin-Probst deafness-intellectual disability syndrome|mental retardation, X-linked, syndromic, MARTIN-Probst type|Martin-Probst syndrome|mental retardation, X-linked, syndromic, Martin-Probst type|MRXSMP|Martin-Probst deafness-mental retardation syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|X-linked deafness-intellectual disability syndrome syndrome|intellectual disability, X-linked, syndromic, Martin-Probst type											MESH:C564495|DOID:0060830|OMIM:300519|Orphanet:85321|SCTID:721087008|ICD10:Q87.8																		owl:Class
MONDO:0013052	biolink:NamedThing	retinitis pigmentosa 42	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.	mondoexuq1wtf	KLHL7 retinitis pigmentosa|RP42|retinitis pigmentosa type 42|retinitis pigmentosa caused by mutation in KLHL7|retinitis pigmentosa 42											ICD10:H35.5|UMLS:C2751986|DOID:0110386|MESH:C567854|OMIM:612943																		owl:Class
MONDO:0017709	biolink:NamedThing	disorder of lipid absorption and transport		mondoexuq1wtf												Orphanet:309028|UMLS:CN227181																		owl:Class
MONDO:0005051	biolink:NamedThing	invasive lobular breast carcinoma	An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.	mondoexuq1wtf	invasive lobular carcinoma of breast|classic invasive lobular carcinoma|lobular carcinoma of the breast|lobular carcinoma NOS (morphologic abnormality)|invasive lobular carcinoma|infiltrating lobular carcinoma of the breast|lobular carcinoma (morphologic abnormality)|invasive lobular carcinoma, classic type|invasive lobular adenocarcinoma|invasive lobular carcinoma of the breast|infiltrating lobular adenocarcinoma|infiltrating lobular carcinoma of breast|breast invasive lobular carcinoma|lobular carcinoma|invasive lobular breast carcinoma|infiltrating lobular breast carcinoma											DOID:3457|EFO:0000553|UMLS:C0206692|UMLS:C0279565|ONCOTREE:ILC|NCIT:C7950																		owl:Class
MONDO:0015529	biolink:NamedThing	paroxysmal Hemicrania	Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.	mondoexuq1wtf												SCTID:443094001|EFO:1001822|ICD10:G44.0|GARD:0010794|Orphanet:157835|UMLS:C1399352|MedDRA:10019461|MESH:D051302|ICD9:339.03														https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania				owl:Class
MONDO:0025167	biolink:NamedThing	reticuloendotheliosis, avian	A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.	mondoexuq1wtf	Reticuloendothelioses, Avian|Avian reticuloendotheliosis|Avian Reticuloendothelioses											MESH:D055761|UMLS:C0276487																		owl:Class
MONDO:0022311	biolink:NamedThing	cote katsantoni syndrome		mondoexuq1wtf	ectodermal dysplasia osteosclerosis											MESH:C536449|UMLS:C2931195|GARD:0001554														https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome				owl:Class
MONDO:0012641	biolink:NamedThing	restless legs syndrome, susceptibility to, 5		mondoexuq1wtf	RLS 5|RLS5|restless legs syndrome, susceptibility to, 5											GARD:0010272|OMIM:611242																		owl:Class
MONDO:0005391	biolink:NamedThing	restless legs syndrome	A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.	mondoexuq1wtf	RLS|WED|restless leg syndrome|Willis-Ekbom disease|Wittmaack-Ekbom syndrome											EFO:0004270|NCIT:C84501|DOID:0050425|SCTID:32914008|OMIMPS:102300|ICD9:333.99|GARD:0011926|MESH:D012148|ICD10:G25.81|UMLS:C0035258|ICD9:333.94																		owl:Class
MONDO:0054577	biolink:NamedThing	bleeding disorder, platelet-type, 21		mondoexuq1wtf	BDPLT21|bleeding disorder, platelet-type, 21											OMIM:617443																		owl:Class
MONDO:0009793	biolink:NamedThing	orofaciodigital syndrome III	Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.	mondoexuq1wtf	oral-facial-digital syndrome type 3|orofaciodigital syndrome type 3|orofaciodigital syndrome III|OFD3|Sugarman syndrome|Ofds 3|oral-Facial-digital syndrome, type 3|oral facial digital syndrome 3|oral facial digital syndrome type 3|orofaciodigital syndrome type III|OFD syndrome 3|orofaciodigital syndrome 3											Orphanet:2752|DOID:0060373|SCTID:239030004|ICD10:Q87.0|OMIM:258850|MESH:C557817|GARD:0010518														https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3				owl:Class
MONDO:0021370	biolink:NamedThing	neoplasm of minor salivary gland	A neoplasm (disease) that involves the minor salivary gland.	mondoexuq1wtf	minor salivary gland tumor|neoplasm of minor salivary gland|tumor of minor salivary gland|tumor of the minor salivary gland|minor salivary gland neoplasm (disease)|neoplasm of the minor salivary gland|minor salivary gland neoplasm											NCIT:C4409|UMLS:C0345613|SCTID:126798006																		owl:Class
MONDO:0003935	biolink:NamedThing	oncocytic breast carcinoma	A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.	mondoexuq1wtf	oncocytic breast carcinoma											NCIT:C40366|UMLS:C1518574|DOID:6585																		owl:Class
MONDO:0014009	biolink:NamedThing	autosomal recessive congenital ichthyosis 7	An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.	mondoexuq1wtf	autosomal recessive congenital ichthyosis type 7|ichthyosis, congenital, autosomal recessive 7|ARCI7											DOID:0060716|UMLS:C3554348|OMIM:615022|ICD10:Q80.2																		owl:Class
MONDO:0008043	biolink:NamedThing	myoclonus-cerebellar ataxia-deafness syndrome	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	mondoexuq1wtf	myoclonus cerebellar ataxia deafness|myoclonus, cerebellar ataxia, and deafness											Orphanet:2589|ICD10:G11.1|GARD:0003873|UMLS:C1834579|OMIM:159800|MESH:C563549																		owl:Class
MONDO:0011410	biolink:NamedThing	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly		mondoexuq1wtf	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly											OMIM:604211|UMLS:C1858696|MESH:C565817																		owl:Class
MONDO:0011916	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2K	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth disease, autosomal dominant, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|Charcot-Marie-Tooth neuropathy, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|autosomal recessive axonal CMT4C4|ARCMT2K|CMT2K|Charcot-Marie-Tooth neuropathy axonal type 2K											SCTID:725047007|ICD10:G60.0|OMIM:607831|DOID:0110167|UMLS:C1842983|Orphanet:101097																		owl:Class
MONDO:0002101	biolink:NamedThing	facial nerve neoplasm	A neoplasm involving a facial nerve.	mondoexuq1wtf	facial nerve tumors|tumor of seventh cranial nerve|facial nerve neoplasm (disease)|VIIth cranial nerve tumors|facial nerve tumor|tumor of Facial nerve|seventh cranial nerve tumors|neoplasm of the Facial nerve|neoplasm of facial nerve|seventh cranial nerve neoplasms|seventh cranial nerve tumor|VIIth cranial nerve neoplasms|facial nerve neoplasms|tumor of facial nerve|facial nerve neoplasm|neoplasm of seventh cranial nerve|neoplasm of the seventh cranial nerve|seventh cranial nerve neoplasm|tumor of the Facial nerve|neoplasm of Facial nerve|tumor of the seventh cranial nerve											UMLS:C1263899|ICD9:239.7|DOID:1760|NCIT:C5827|SCTID:126973004																		owl:Class
MONDO:0022896	biolink:NamedThing	craniosynostosis contractures cleft		mondoexuq1wtf												GARD:0001591														https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft				owl:Class
MONDO:0023148	biolink:NamedThing	fetal phenothiazine syndrome		mondoexuq1wtf												GARD:0002311														https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome				owl:Class
MONDO:0017466	biolink:NamedThing	congenital pseudoarthrosis of the ulna		mondoexuq1wtf	congenital pseudarthrosis of the ulna											ICD10:Q74.0|Orphanet:295026																		owl:Class
MONDO:0012427	biolink:NamedThing	Loeys-Dietz syndrome 2	A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.	mondoexuq1wtf	Loeys-Dietz syndrome 2|aortic aneurysm, familial thoracic 3|Loeys-Dietz syndrome type II|Marfan syndrome, type II|LDS2|TGFBR2 Loeys-Dietz syndrome|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome type 2|Loeys-Dietz syndrome caused by mutation in TGFBR2											NCIT:C114768|OMIM:610168|GARD:0010586|DOID:0070234|MESH:C537783																		owl:Class
MONDO:0016242	biolink:NamedThing	hemoglobin C disease	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).	mondoexuq1wtf	Hb C disease|Hb-C disease											ICD10:D58.2|UMLS:C0019021|GARD:0002640|NCIT:C34675|SCTID:51053007|ICD9:282.7|DOID:2859|MedDRA:10018883|MESH:C531699|MESH:D006445|Orphanet:2132														https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease				owl:Class
MONDO:0006663	biolink:NamedThing	perinatal asphyxia	A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.	mondoexuq1wtf	perinatal depression|asphyxia - birth|perinatal asphyxia|fetal asphyxia|hypoxic and ischemic brain injury in the newborn|HIE|postnatal asphyxia|hypoxic-ischemic encephalopathy|perinatal hypoxia|hypoxia neonatorum|birth depression|birth asphyxia|neonatal hypoxic and ischemic brain injury|asphyxia neonatorum|asphyxia, in liveborn infant|intrapartum asphyxia					Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782]						NCIT:C116313|DOID:11088|MESH:D001238|Orphanet:137577|GARD:0005857|EFO:1000824|ICD9:768.9|ICD10:P84|SCTID:28314004|UMLS:C0004045|COHD:439136														https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum				owl:Class
MONDO:0014166	biolink:NamedThing	paroxysmal nocturnal hemoglobinuria 2	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.	mondoexuq1wtf	paroxysmal nocturnal hemoglobinuria type 2|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT|paroxysmal nocturnal hemoglobinuria 2|PIGT paroxysmal nocturnal hemoglobinuria|PNH2											UMLS:C3809369|OMIM:615399																		owl:Class
MONDO:0023513	biolink:NamedThing	Jeune syndrome situs inversus		mondoexuq1wtf						Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105						MESH:C537572|UMLS:C2931535|GARD:0000303														https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus				owl:Class
MONDO:0003026	biolink:NamedThing	gallbladder angiosarcoma	An angiosarcoma that is located in the gallbladder.	mondoexuq1wtf	angiosarcoma (disease) of gall bladder|gallbladder hemangiosarcoma|angiosarcoma of gallbladder|hemangiosarcoma of the gallbladder|gall bladder angiosarcoma (disease)|angiosarcoma of the gallbladder|gallbladder angiosarcoma|hemangiosarcoma of gallbladder											DOID:4513|UMLS:C1333742|NCIT:C5840																		owl:Class
MONDO:0004221	biolink:NamedThing	uterine corpus perivascular epithelioid cell tumor	A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.	mondoexuq1wtf	uterus perivascular epithelioid cell tumor|uterine corpus PEComa|uterine perivascular epithelioid cell tumor|uterine corpus perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation											DOID:7437|UMLS:C1519862|NCIT:C40180|ONCOTREE:UPECOMA																		owl:Class
MONDO:0021194	biolink:NamedThing	disease by subcellular system affected	A grouping of diseases based on molecular activity, cellular process or subcellular component.	mondoexuq1wtf																														owl:Class
MONDO:0001988	biolink:NamedThing	external pathological resorption		mondoexuq1wtf												DOID:14529|UMLS:C0266878|ICD10:K03.3|ICD9:521.42|SCTID:41918006																		owl:Class
MONDO:0003035	biolink:NamedThing	ovarian angiosarcoma	A malignant vascular neoplasm arising from the ovary.	mondoexuq1wtf	ovary angiosarcoma (disease)|angiosarcoma (disease) of ovary|angiosarcoma of ovary|ovarian hemangiosarcoma|angiosarcoma of the ovary|hemangiosarcoma of the ovary|hemangiosarcoma of ovary											DOID:4527|UMLS:C1335152|NCIT:C5232																		owl:Class
MONDO:0003411	biolink:NamedThing	breast hemangiopericytoma	A hemangiopericytoma arising from the breast.	mondoexuq1wtf	breast spindle cell tumor|breast hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						DOID:5370|UMLS:C1511313|NCIT:C40396																		owl:Class
MONDO:0000129	biolink:NamedThing	glutaric aciduria		mondoexuq1wtf	glutaric aciduria (disease)|glutaric acidemia|glutaric aciduria		glutaric aciduria (disease)			Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency						ICD9:270.8|HP:0003530|UMLS:C0268594|SCTID:28987007|HP:0003150|DC:0000526																		owl:Class
MONDO:0005607	biolink:NamedThing	chronic bronchitis	A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.	mondoexuq1wtf	bronchitis, chronic											ICD9:491.9|ICD9:491|COHD:255841|EFO:0006505|SCTID:63480004|NCIT:C26722|ICD9:491.8|UMLS:C0008677																		owl:Class
MONDO:0006363	biolink:NamedThing	peritoneal multicystic mesothelioma	A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.	mondoexuq1wtf	BMPM|multicystic mesothelioma of the peritoneum|multicystic mesothelioma|multilocular peritoneal cysts|multilocular peritoneal inclusion cysts|peritoneal multicystic mesothelioma|benign multicystic peritoneal mesothelioma|multicystic mesothelioma of peritoneum|multilocular peritoneal inclusion cyst|peritoneal cystic mesothelioma|benign cystic peritoneal mesothelioma											UMLS:C1334818|SCTID:716650003|GARD:0010777|EFO:1000468|Orphanet:168816|ICD10:C45.1|NCIT:C6536																		owl:Class
MONDO:0006362	biolink:NamedThing	peritoneal mesothelioma	A benign or malignant mesothelial neoplasm that arises from the peritoneum.	mondoexuq1wtf	mesothelioma of the peritoneum|peritoneal mesothelioma (disease)|peritoneal mesothelioma|peritoneum mesothelioma|mesothelioma of peritoneum		peritoneal mesothelioma (disease)									NCIT:C7633|EFO:1000467|SCTID:109853004|HP:0100003|ICD10:C45.1|ONCOTREE:PEMESO																		owl:Class
MONDO:0033375	biolink:NamedThing	orofaciodigital syndrome 17		mondoexuq1wtf	Ofds 17|OFD17|oral-Facial-digital syndrome, type 17|orofaciodigital syndrome XVII											UMLS:CN902091|OMIM:617926|DOID:0080289																		owl:Class
MONDO:0011186	biolink:NamedThing	Usher syndrome type 1F	A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	Usher syndrome type IF|Usher syndrome, type 1F|USH1F|USHER syndrome, type IF											DOID:0110832|OMIM:602083|UMLS:C1865885|ICD10:H35.5|GARD:0010043														https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f				owl:Class
MONDO:0017041	biolink:NamedThing	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	mondoexuq1wtf	Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome											Orphanet:2653|UMLS:CN202358|SCTID:722108000																		owl:Class
MONDO:0000938	biolink:NamedThing	gastric leiomyoma	A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).	mondoexuq1wtf	leiomyoma of stomach|leiomyoma of the stomach|stomach leiomyoma|gastric leiomyoma											SCTID:276812001|NCIT:C3876|UMLS:C0238440|DOID:10087																		owl:Class
MONDO:0021449	biolink:NamedThing	benign neoplasm of stomach	A benign neoplasm that involves the stomach.	mondoexuq1wtf	gastric tumors, benign|benign gastric neoplasm|benign stomach tumors|benign tumors of the stomach|gastric neoplasms, benign|stomach benign neoplasm|stomach tumors, benign|benign tumors of stomach|benign gastric tumor|stomach neoplasms, benign|benign stomach neoplasms|benign tumor of stomach|benign tumor of the stomach|benign neoplasm of the stomach|benign gastric tumors											NCIT:C3599|ICD9:211.1|ICD10:D13.1|SCTID:92411005|UMLS:C0153943																		owl:Class
MONDO:0030903	biolink:NamedThing	Hermansky-Pudlak syndrome 11		mondoexuq1wtf	Hermansky-Pudlak syndrome|HPS11											OMIM:619172																		owl:Class
MONDO:0009996	biolink:NamedThing	rhizomelic syndrome, Urbach type	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	mondoexuq1wtf	rhizomelic syndrome|rhizomelic dysplasia, familial|familial rhizomelic dysplasia											GARD:0004705|Orphanet:3098|OMIM:268250|ICD10:Q87.1|UMLS:C1849382|MESH:C537611																		owl:Class
MONDO:0010465	biolink:NamedThing	Kabuki syndrome 2		mondoexuq1wtf	KABUK2|Kabuki syndrome type 2|Kabuki syndrome 2|KABUKI syndrome 2											OMIM:300867|UMLS:C3275495																		owl:Class
MONDO:0004961	biolink:NamedThing	stage I endometrioid carcinoma	Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.	mondoexuq1wtf												EFO:0000205																		owl:Class
MONDO:0013219	biolink:NamedThing	hypophosphatemic rickets, autosomal recessive, 2	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.	mondoexuq1wtf	ENPP1 autosomal recessive hypophosphatemic rickets|ARHR2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|hypophosphatemic rickets, autosomal recessive, type 2|hypophosphatemic rickets, autosomal recessive, 2											OMIM:613312|MESH:C567647|UMLS:C2750078																		owl:Class
MONDO:0017324	biolink:NamedThing	autosomal recessive hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.	mondoexuq1wtf	hereditary hypophosphatemic rickets, autosomal recessive|ARHR|autosomal recessive hereditary hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive											SCTID:90505000|DOID:0050949|UMLS:CN202957|ICD10:E83.3|Orphanet:289176																		owl:Class
MONDO:0020725	biolink:NamedThing	anemia due to chronic disorder	Anemia due to a disorder that is persistent or long-standing in nature.	mondoexuq1wtf	anemia of chronic inflammation|anemia of chronic disorder|anemia due to chronic disorder|anemia of chronic illness|Secondary anemia|anemia of systemic disease|anemia due to Chronic Disorder|anemia of chronic disease											ICD9:285.29|UMLS:C0002873|SCTID:234347009|NCIT:C35659																		owl:Class
MONDO:0030087	biolink:NamedThing	diabetes mellitus, permanent neonatal 2		mondoexuq1wtf	PNDM2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1|DIABETES MELLITUS, PERMANENT NEONATAL 2|diabetes mellitus, permanent neonatal 2											OMIM:618856																		owl:Class
MONDO:0008457	biolink:NamedThing	spinocerebellar ataxia type 6	Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.	mondoexuq1wtf	spinocerebellar ataxia 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A|spinocerebellar ataxia type 6|CACNA1A autosomal dominant cerebellar ataxia type III|SCA6											DOID:0050956|SCTID:715752006|OMIM:183086|Orphanet:98758|NCIT:C142838|UMLS:C0752124|ICD10:G11.2|GARD:0010351														https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6				owl:Class
MONDO:0013509	biolink:NamedThing	intellectual disability, autosomal dominant 6	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.	mondoexuq1wtf	autosomal dominant intellectual disability 6|MRD6|autosomal dominant mental retardation 6|intellectual disability, autosomal dominant 6, with or without seizures|mental retardation, autosomal dominant type 6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|intellectual disability, autosomal dominant type 6|autosomal dominant non-syndromic intellectual disability 6|mental retardation, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6|GRIN2B autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 6											DOID:0070036|UMLS:C3151411|OMIM:613970																		owl:Class
MONDO:0007702	biolink:NamedThing	heart-hand syndrome type 3	Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	mondoexuq1wtf	atriodigital dysplasia type 3|heart-hand syndrome, Spanish type|heart-limb syndrome type 3|upper limb malformations and congenital cardiac anomalies|Cardiomelic syndrome type 3|brachydactyly and intraventricular conduction defect											ICD10:Q87.2|OMIM:140450|Orphanet:1342|MESH:C535853|SCTID:721013001|GARD:0002614|UMLS:C1841657																		owl:Class
MONDO:0014306	biolink:NamedThing	vasculitis due to ADA2 deficiency	Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	mondoexuq1wtf	PAN|ADA2 deficiency|polyarteritis nodosa, childhood-onset|childhood-onset polyarteritis nodosa|vasculitis due to DADA2|adenosine deaminase 2 deficiency|DADA2											Orphanet:404553|OMIM:615688|ICD10:M30.8|GARD:0012383																		owl:Class
MONDO:0003723	biolink:NamedThing	blunt duct adenosis of breast	Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.	mondoexuq1wtf	breast blunt duct adenosis|blunt duct adenosis of the breast											DOID:5996|UMLS:C1332573|NCIT:C6941																		owl:Class
MONDO:0006030	biolink:NamedThing	chronic cystitis	Recurrent infections of the urinary bladder.	mondoexuq1wtf	cystitis, chronic											ICD9:595.2|UMLS:C0221763|EFO:1000023|SCTID:33655002|DOID:1680|ICD10:N30.2|NCIT:C27008|COHD:201621																		owl:Class
MONDO:0014667	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.	mondoexuq1wtf	cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3|CEMCOX3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|COA5 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3											UMLS:C4225154|OMIM:616500|DOID:0080359																		owl:Class
MONDO:0017224	biolink:NamedThing	Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).	mondoexuq1wtf												UMLS:CN202706|ICD10:E75.2|Orphanet:280229																		owl:Class
MONDO:0011262	biolink:NamedThing	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	mondoexuq1wtf	Rozin hertz Goodman syndrome|camptodactyly, joint contractures, facial skeletal defects|camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye					Editor note: check ORDO						GARD:0000216|MESH:C535876|Orphanet:1323|ICD10:Q87.0|UMLS:C1865133|SCTID:715986009|OMIM:602612																		owl:Class
MONDO:0021452	biolink:NamedThing	benign neoplasm of cornea	A benign neoplasm that involves the cornea.	mondoexuq1wtf	benign cornea tumor|cornea benign neoplasm|benign tumor of the cornea|benign tumor of cornea|benign corneal neoplasm|benign neoplasm of the cornea|benign corneal tumor|benign cornea neoplasm											UMLS:C0154026|SCTID:92070006|NCIT:C3623|ICD9:224.4																		owl:Class
MONDO:0042972	biolink:NamedThing	meningococcemia		mondoexuq1wtf	meningococcal septicemia|meningococcemia											UMLS:C0025306|ICD9:036.2|SCTID:4089001|GARD:0003472|MEDGEN:6300																		owl:Class
MONDO:0005373	biolink:NamedThing	meningococcal infection	Infections with bacteria of the species neisseria meningitidis.	mondoexuq1wtf	Neisseria meningitidis infection|infections, Neisseria meningitidis|meningococcal disease											EFO:0004249|SCTID:23511006|UMLS:C0025303|GARD:0007169|ICD10:A39|GARD:0009547|ICD9:036.9|ICD9:036.89|ICD9:036|MESH:D008589														https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection				owl:Class
MONDO:0018004	biolink:NamedThing	acute megakaryoblastic leukemia without down syndrome		mondoexuq1wtf	non-DS-AMKL											UMLS:CN204216|Orphanet:329469|ICD10:C94.2																		owl:Class
MONDO:0032609	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 4		mondoexuq1wtf	MC1DN4|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4											OMIM:618225																		owl:Class
MONDO:0004787	biolink:NamedThing	cervical mullerian papilloma	A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.	mondoexuq1wtf	cervical Müllerian papilloma|cervical Muellerian papilloma|cervical Mullerian papilloma											NCIT:C40215|DOID:9442|UMLS:C1516427																		owl:Class
MONDO:0006920	biolink:NamedThing	prediabetes syndrome	A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.	mondoexuq1wtf	prediabetes|borderline diabetes|prediabetic state											MedDRA:10065542|UMLS:C0362046|EFO:1001121|ICD10:R73.09|MESH:D011236|NCIT:C122685|DOID:11716																		owl:Class
MONDO:0020474	biolink:NamedThing	cheirospondyloenchondromatosis	Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.	mondoexuq1wtf	generalized enchondromatosis with platyspondyly											Orphanet:99647|SCTID:725104005|UMLS:C4510810																		owl:Class
MONDO:0014423	biolink:NamedThing	severe combined immunodeficiency due to DNA-PKcs deficiency	Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.	mondoexuq1wtf	immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency|IMD26											OMIM:615966|Orphanet:317425|ICD10:D81.1|SCTID:716871006|UMLS:C4014833																		owl:Class
MONDO:0000710	biolink:NamedThing	gastroduodenal Crohn disease	An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.	mondoexuq1wtf	gastroduodenal Crohn's disease|upper GI Crohn's disease											ICD10:K50.0|DOID:0060191																		owl:Class
MONDO:0005539	biolink:NamedThing	small bowel Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the small intestine.	mondoexuq1wtf	small bowel Crohn's disease											EFO:0005629																		owl:Class
MONDO:0004105	biolink:NamedThing	childhood epithelioid sarcoma	An epithelioid sarcoma occurring in childhood.	mondoexuq1wtf	childhood epithelioid sarcoma|epithelioid sarcoma of childhood|pediatric epithelioid sarcoma|epithelioid sarcoma											DOID:7095|UMLS:C0279989|NCIT:C8095																		owl:Class
MONDO:0021317	biolink:NamedThing	cancer of cerebellum	A cancer that involves the cerebellum.	mondoexuq1wtf	malignant cerebellar neoplasm|cancer of the cerebellum|cancer of cerebellum|cerebellar neoplasm, malignant|malignant tumor of cerebellum|malignant cerebellum neoplasm|malignant neoplasm of cerebellum|cerebellum cancer|malignant neoplasm of the cerebellum|malignant cerebellar neoplasms|cerebellar tumor, malignant|malignant tumor of the cerebellum|cerebellar cancer|malignant cerebellar tumor											NCIT:C3569|ICD9:191.6|SCTID:449420002																		owl:Class
MONDO:0021895	biolink:NamedThing	temporomandibular joint dysfunction syndrome	A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.	mondoexuq1wtf	Costen's syndrome|Costen's complex|TMJ Syndrome|Syndrome, TMJ|Costen Syndrome|TMJ syndrome|Snapping jaw|Syndrome, Costen's|Temporomandibular joint syndrome|Syndrome, Temporomandibular Joint|Costens Syndrome|Temporomandibular Joint Syndrome|Temporomandibular joint pain dysfunction syndrome|Mandibular dysfunction|Costen's Syndrome|temporomandibular joint dysfunction syndrome|TMJPDS - Temporomandibular joint pain dysfunction syndrome|Joint Syndrome, Temporomandibular|Temporomandibular joint-pain-dysfunction syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Myofascial pain - dysfunction syndrome of TMJ|Temporomandibular Joint Dysfunction Syndrome											NCIT:C35066|UMLS:C0039496|MESH:D013706																		owl:Class
MONDO:0002279	biolink:NamedThing	iron metabolism disease	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)	mondoexuq1wtf	metabolism disorders, iron|iron metabolism disorder|metabolism disorder, iron|disorder of iron metabolism|disorder, iron metabolism|disorders, iron metabolism|iron disorder					Editor note: DOID refers to acquired version, consider new class						DOID:2351|COHD:434614|ICD9:275.0|MESH:D019189|ICD10:E83.10|UMLS:C0012715|ICD10:E83.1|SCTID:30913008																		owl:Class
MONDO:0012218	biolink:NamedThing	dandy-walker malformation with occipital cephalocele, autosomal dominant		mondoexuq1wtf	ADDWOC|Dandy-Walker malformation with occipital cephalocele, autosomal dominant											MESH:C567185|UMLS:C2674987|OMIM:609222																		owl:Class
MONDO:0004522	biolink:NamedThing	peritonitis	Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.	mondoexuq1wtf	retractile mesenteritis|peritoneum inflammation|acute generalized peritonitis|inflammation of peritoneum|primary bacterial peritonitis											COHD:196152|ICD9:567.82|ICD9:567.89|DOID:8283|NCIT:C26849|SCTID:86422009|ICD9:567.8|EFO:0008588																		owl:Class
MONDO:0001368	biolink:NamedThing	phthisical cornea		mondoexuq1wtf												ICD9:371.05|SCTID:28143002|UMLS:C0155102|DOID:11793|COHD:381023																		owl:Class
MONDO:0016015	biolink:NamedThing	phenobarbital embryopathy	A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	mondoexuq1wtf	phenobarbital antenatal exposure											GARD:0004315|Orphanet:1919|UMLS:C4275281|SCTID:715431002|ICD10:Q86.8																		owl:Class
MONDO:0010876	biolink:NamedThing	recessive aplasia cutis congenita of limbs	Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.	mondoexuq1wtf	congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs recessive|recessive aplasia cutis congenita of the limbs|aplasia cutis congenita of limbs, autosomal recessive											SCTID:723500009|MESH:C536840|Orphanet:1115|ICD10:Q84.8|OMIM:600360|UMLS:C1838206|GARD:0000754														https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive				owl:Class
MONDO:0005594	biolink:NamedThing	severe cutaneous adverse reaction	A permanent mark left on the skin in the process of wound healing.	mondoexuq1wtf	scarring|SCAR|Scar											MedDRA:20000020|NCIT:C34483|EFO:0006346|SCTID:275322007																		owl:Class
MONDO:0008259	biolink:NamedThing	familial spontaneous pneumothorax	Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.	mondoexuq1wtf	primary spontaneous pneumothorax|Psp|spontaneous pneumothorax|pneumothorax, primary spontaneous											GARD:0004997|ICD10:J93.1|OMIM:173600|MESH:C566795|SCTID:715219001|DOID:0080218|UMLS:C4275252|Orphanet:2903|UMLS:C1868193																		owl:Class
MONDO:0019960	biolink:NamedThing	VIPoma	VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).	mondoexuq1wtf	pancreatic cholera|VIP-producing neuroendocrine tumor|malignant vasoactive intestinal peptide-secreting tumor|watery diarrhea, hypokalemia, and achlorhydria syndrome|vasoactive intestinal peptide-producing tumor|VIP-producing NET|Diarrheogenic islet cell tumor|vasoactive intestinal peptide producing tumor|watery diarrhea-hypokalemia-achlorhydria syndrome|VIP-secreting tumor|pancreatic vipoma|vasoactive intestinal peptide-secreting tumor|vasoactive intestinal peptide (VIP) tumor|vasoactive intestinal peptide producing neoplasm|VIPoma, malignant|WDHA syndrome|VIPoma|VIP- secreting tumor|vasoactive intestinal peptide secreting neoplasm|Verner-Morrison syndrome|VIP- secreting neoplasm|VIP producing neoplasm											ICDO:8155/1|Orphanet:97282|MedDRA:10047430|DOID:5574|EFO:1000622|UMLS:C0011993|GARD:0005493|ICD10:E16.8|SCTID:253005002|MESH:D003969|ICD9:239.7|GARD:0003787|NCIT:C26749																		owl:Class
MONDO:0012844	biolink:NamedThing	primary ciliary dyskinesia 8	A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.	mondoexuq1wtf	CILD8|primary ciliary dyskinesia type 8|ciliary dyskinesia, primary, 8|ciliary dyskinesia, primary, 8, with or without situs inversus|primary ciliary dyskinesia 8 with or without situs inversus											ICD10:Q34.8|UMLS:C2677085|MESH:C567373|DOID:0110616|OMIM:612274																		owl:Class
MONDO:0017968	biolink:NamedThing	46,XY ovotesticular disorder of sex development	46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.	mondoexuq1wtf	46,XY ovotesticular DSD											SCTID:763683004|UMLS:CN227231|Orphanet:325345																		owl:Class
MONDO:0030844	biolink:NamedThing	spermatogenic failure 47		mondoexuq1wtf	SPGF47|spermatogenic failure 47											OMIM:619102																		owl:Class
MONDO:0006924	biolink:NamedThing	Bartonellaceae infectious disease	Infections with bacteria of the family bartonellaceae.	mondoexuq1wtf	Bartonellaceae caused disease or disorder|infections, Bartonellaceae|infection, Bartonellaceae|Bartonellaceae infection|Bartonellaceae disease or disorder											EFO:1001125|UMLS:C0004773|MESH:D001476																		owl:Class
MONDO:0015431	biolink:NamedThing	ring chromosome 10	Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.	mondoexuq1wtf	r10|Ring 10|chromosome 10 ring|Ring chromosome type 10|Ring chromosome 10 syndrome											ICD10:Q93.2|Orphanet:1438|MESH:C538086|SCTID:86997002|UMLS:C0265438|UMLS:CN037257|GARD:0001322														https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10				owl:Class
MONDO:0019808	biolink:NamedThing	aortic valve atresia	A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.	mondoexuq1wtf	congenital atresia of aortic valve|congenital aortic valve atresia|aortic valve atresia (disease)|aortic valve atresia		aortic valve atresia (disease)									HP:0010883|MedDRA:10066801|Orphanet:95448|SCTID:51442005|ICD10:Q23.0|NCIT:C98818																		owl:Class
MONDO:0017735	biolink:NamedThing	congenital aortic valve stenosis		mondoexuq1wtf												ICD10:Q23.0|ICD9:746.3|Orphanet:3093|MedDRA:10010371|COHD:314457|SCTID:18546004																		owl:Class
MONDO:0017500	biolink:NamedThing	congenital absence of both lower leg and foot, unilateral		mondoexuq1wtf	tibiofibular terminal transverse meromelia, unilateral											ICD10:Q72.2|Orphanet:295097																		owl:Class
MONDO:0015402	biolink:NamedThing	mandibular arteriovenous malformation	Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.	mondoexuq1wtf	arteriovenous malformation of mandible											SCTID:703334000|ICD10:Q27.3|Orphanet:141174																		owl:Class
MONDO:0016535	biolink:NamedThing	hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).	mondoexuq1wtf	ectodermal dysplasia 1, Anhydrotic|EDA|anhidrotic ectodermal dysplasia|CST syndrome|hypohidrotic X-linked ectodermal dysplasia|ectodermal dysplasia, hypohidrotic|anhidrotic ectodermal dysplasia 3|ectodermal dysplasia anhidrotic|anhidrotic ectodermal dysplasia 1|HED					DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic						NCIT:C84562|HP:0007607|SCTID:239007005|DOID:14793|GARD:0000076|Orphanet:238468|ICD10:Q82.4																		owl:Class
MONDO:0015298	biolink:NamedThing	pellucid marginal degeneration		mondoexuq1wtf												ICD10:H18.7|UMLS:CN199253|GARD:0011895|Orphanet:137672														https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration				owl:Class
MONDO:0020420	biolink:NamedThing	pulmonary branch stenosis	Narrowing of the lumen of the right or left pulmonary artery branch.	mondoexuq1wtf	branch pulmonary artery stenosis|peripheral pulmonary stenosis|pulmonary artery stenosis, branch (not PPS)											ICD10:Q25.6|NCIT:C99144|Orphanet:99084|UMLS:C2062889																		owl:Class
MONDO:0043207	biolink:NamedThing	urethral obstruction sequence		mondoexuq1wtf	EUOS|early urethral obstruction sequence|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction											MESH:C536477|SCTID:18241005|UMLS:C0265363|GARD:0005428																		owl:Class
MONDO:0001556	biolink:NamedThing	urethral obstruction	Blockage of the normal flow of urine in the urethra.	mondoexuq1wtf	urethral obstruction (disease)|urethral obstruction|obstruction of urethra		urethral obstruction (disease)									DOID:12577|MESH:D014524|UMLS:C0041972|SCTID:95588004|ICD9:599.69|HP:0000796																		owl:Class
MONDO:0044213	biolink:NamedThing	acute idiopathic urticaria	Acute form of idiopathic urticaria.	mondoexuq1wtf	idiopathic urticaria, acute|acute idiopathic urticaria											UMLS:C0578869|SCTID:302161006																		owl:Class
MONDO:0006147	biolink:NamedThing	chronic eosinophilic leukemia, not otherwise specified	A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001)	mondoexuq1wtf	chronic eosinophilic leukemia/hypereosinophilic syndrome|CEL|CELNOS|CEL/hypereosinophilic syndrome|chronic eosinophilic leukemia|eosinophilic leukemia											NCIT:C4563|ONCOTREE:CELNOS|ICDO:9964/3|EFO:1000178																		owl:Class
MONDO:0019359	biolink:NamedThing	Rocky mountain spotted fever	Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).	mondoexuq1wtf	Brazillian spotted|Choix|Tick typhus|RMSF|So Paulo fever|Fiebre manchada|Fiebre maculosa|sao Paulo typhus|Tobia fever|exanthematic typhus of sao Paulo											UMLS:C0035793|MESH:D012373|DOID:0050052|ICD10:A77.0|Orphanet:83311|GARD:0007585|MedDRA:10039207|SCTID:186772009|NCIT:C128410														https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever				owl:Class
MONDO:0019138	biolink:NamedThing	bleeding diathesis due to a collagen receptor defect		mondoexuq1wtf												ICD10:D69.8|Orphanet:73271																		owl:Class
MONDO:0009690	biolink:NamedThing	congenital myasthenic syndrome 10	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.	mondoexuq1wtf	myasthenic syndrome, congenital, 10|CMS1B|Cms Ib|congenital myasthenic syndrome type IB, formerly|myasthenia, limb-girdle, familial, formerly|Cms Ib, formerly|congenital myasthenic syndrome caused by mutation in DOK7|myasthenia, limb-girdle, familial|CMS Ib|congenital myasthenic syndrome type IB|LGM|myasthenic syndrome, congenital, type 10|congenital myasthenic syndrome type 10|CMS10|DOK7 congenital myasthenic syndrome|myasthenic myopathy, formerly|myasthenic myopathy|familial limb-girdle myasthenia											SCTID:230687001|ICD9:358.00|DOID:0110668|OMIM:254300																		owl:Class
MONDO:0008817	biolink:NamedThing	arterial calcification, generalized, of infancy, 1	An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.	mondoexuq1wtf	arterial calcification of infancy caused by mutation in ENPP1|arterial calcification, idiopathic infantile|ENPP1 arterial calcification of infancy|arteriopathy, occlusive infantile|arterial calcification, generalized, of infancy, type 1|idiopathic infantile arterial calcification|GACI1|coronary sclerosis, medial, of infancy|Gaci|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, 1											NCIT:C128805|OMIM:208000																		owl:Class
MONDO:0001315	biolink:NamedThing	neurocirculatory asthenia	A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.	mondoexuq1wtf	cardiovascular neurosis|Da Costa's syndrome|Krishaber's disease|cardiovascular malfunction arising from mental factors											COHD:433177|ICD9:306.2|MESH:D009449|DOID:11569|SCTID:191962000																		owl:Class
MONDO:0016203	biolink:NamedThing	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		mondoexuq1wtf												ICD10:E78.0|Orphanet:209902																		owl:Class
MONDO:0010985	biolink:NamedThing	epilepsy, familial adult myoclonic, 1		mondoexuq1wtf	cortical myoclonic tremor with epilepsy, familial, 1|FAME1|epilepsy, familial ADULT myoclonic, 1|benign adult familial myoclonic epilepsy 1											UMLS:C1832841|MESH:C563399|DOID:0111690|OMIM:601068																		owl:Class
MONDO:0005999	biolink:NamedThing	tuberculous empyema	An empyema resulting from infection by Mycobacterium tuberculosis.	mondoexuq1wtf	tuberculous empyema (& pleural)											EFO:0007528|MESH:D004654|DOID:14305|NCIT:C34575|UMLS:C0014014|SCTID:14527007																		owl:Class
MONDO:0018667	biolink:NamedThing	pleural empyema	The presence of pus in the thoracic cavity, between the visceral and parietal pleura.	mondoexuq1wtf	abscess of thorax|pyothorax|empyema of pleura|pleural empyema (disease)|abscess of pleural cavity|empyema|thorax abscess|purulent pleuritis|pleural empyema|purulent pleurisy		pleural empyema (disease)									ICD10:J86|DOID:3798|SCTID:405950009|ICD10:J86.9|Orphanet:449266|MESH:D016724|HP:0011919																		owl:Class
MONDO:0014975	biolink:NamedThing	autosomal recessive spastic paraplegia type 78	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in ATP13A2|ATP13A2 hereditary spastic paraplegia|SPG78|spastic paraplegia 78, autosomal recessive|spastic paraplegia 78, autosomal recessive; SPG78											OMIM:617225|UMLS:C4310662|Orphanet:513436																		owl:Class
MONDO:0019923	biolink:NamedThing	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11		mondoexuq1wtf	Mosaic paternal uniparental disomy of chromosome 11|Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat											UMLS:CN206842|Orphanet:96193|ICD10:Q87.3																		owl:Class
MONDO:0011579	biolink:NamedThing	late-onset retinal degeneration	Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	mondoexuq1wtf	pigmentary retinopathy|late-onset retinal degeneration|autosomal dominant late-onset retinal degeneration|retinal Degeneration, late-onset, autosomal dominant|LORD											GARD:0004357|MESH:C565309|DOID:0060869|UMLS:C1854065|OMIM:605670|Orphanet:67042|SCTID:719431007																		owl:Class
MONDO:0010528	biolink:NamedThing	anosmia	Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.	mondoexuq1wtf	anosmia|anosmia (disease)		anosmia (disease)									OMIM:301700|HP:0000458|MESH:D000857																		owl:Class
MONDO:0020481	biolink:NamedThing	myotonia fluctuans	Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	mondoexuq1wtf	MF|exercise-induced delayed-onset myotonia|Fluctuating myotonia											Orphanet:99734|SCTID:715788001|NCIT:C122789|UMLS:C0752355|ICD10:G71.1																		owl:Class
MONDO:0018959	biolink:NamedThing	potassium-aggravated myotonia	Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.	mondoexuq1wtf	MYOTONIA, POTASSIUM-AGGRAVATED|Myotonia Congenita, Atypical|Laryngospasm, Severe Neonatal Episodic|Myotonia Congenita, Acetazolamide-Responsive|Myotonia Permanens|Myotonia Fluctuans|K-aggravated myotonia|Potassium aggravated myotonia|PAM|Sodium Channel Muscle Disease|K+-aggravated myotonia											OMIM:608390|MONDO:0012026|ICD10:G71.1|SCTID:702355008|NCIT:C122788|UMLS:C2931826|Orphanet:612|MESH:C538353|GARD:0004459																		owl:Class
MONDO:0007224	biolink:NamedThing	brachydactyly, type E, with atrial septal defect, type 2		mondoexuq1wtf	brachydactyly, type E, with atrial septal defect, type II											OMIM:113301|MESH:C566193|UMLS:C1862101																		owl:Class
MONDO:0019677	biolink:NamedThing	brachydactyly type E	Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.	mondoexuq1wtf	type E brachydactyly											GARD:0000987|Orphanet:93387|ICD10:Q73.8																		owl:Class
MONDO:0009919	biolink:NamedThing	peroxisomal acyl-CoA oxidase deficiency	Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.	mondoexuq1wtf	peroxisomal acyl-coenzyme A oxidase|ACOX1 deficiency|Pseudoadrenoleukodystrophy|pseudo-NALD|straight-chain acyl-Coa oxidase deficiency|peroxisomal acyl-CoA oxidase deficiency|pseudo-neonatal adrenoleukodystrophy|Pseudoneonatal adrenoleukodystrophy											UMLS:C1849678|Orphanet:2971|SCTID:238069004|OMIM:264470|MESH:C536662|DOID:0050797|ICD9:255.41|ICD10:E71.3|GARD:0004543														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0004816	biolink:NamedThing	refractory plasma cell neoplasm	A plasma cell neoplasm that is resistant to treatment.	mondoexuq1wtf	refractory plasma cell neoplasm											NCIT:C7813|DOID:9544|UMLS:C0278620																		owl:Class
MONDO:0037939	biolink:NamedThing	porphyria	Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.	mondoexuq1wtf	porphyria					Represents both genetic and sporadic forms						SCTID:418470004																		owl:Class
CL:0000624	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023609	biolink:NamedThing	le Marec-Bracq-Picaud syndrome		mondoexuq1wtf	complex malformation syndrome with brachymesomelia											UMLS:C2931385|MESH:C536997|GARD:0000171														https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome				owl:Class
MONDO:0019524	biolink:NamedThing	infantile Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.	mondoexuq1wtf	Bartter syndrome type IV|Bartter syndrome with sensorineural deafness|Bartter syndrome type 4											Orphanet:89938|GARD:0010508|ICD10:E26.8|SCTID:700112007|UMLS:CN206343|UMLS:C3838860																		owl:Class
MONDO:0100355	biolink:NamedThing	classic or non-classic genetic disease presentation	A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3221				owl:Class
MONDO:0003607	biolink:NamedThing	neuritis of upper limb	A neuritis that involves the forelimb.	mondoexuq1wtf	forelimb neuritis|neuritis of forelimb											DOID:572|ICD9:354																		owl:Class
MONDO:0010378	biolink:NamedThing	X-linked hereditary sensory and autonomic neuropathy with deafness	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	mondoexuq1wtf	DFNX5|X-linked HSAN with deafness|X-linked auditory neuropathy with peripheral sensory neuropathy type 1|deafness, X-linked 5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy											SCTID:719838008|GARD:0012731|Orphanet:139583|ICD10:G60.8|OMIM:300614|UMLS:C4304400|MESH:C564472|UMLS:C1845095														https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness				owl:Class
MONDO:0006881	biolink:NamedThing	orbital cellulitis	Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.	mondoexuq1wtf	orbital cellulitis											ICD10:H05.01|UMLS:C0149507|SCTID:194005002|EFO:1001076|MedDRA:10031036|COHD:434942|ICD9:376.01|DOID:11234|MESH:D054517|NCIT:C99000																		owl:Class
MONDO:0018282	biolink:NamedThing	qualitative or quantitative defects of alpha-dystroglycan		mondoexuq1wtf	dystroglycanopathy|Alpha-dystroglycanopathy											Orphanet:371024|ICD10:G71.2																		owl:Class
MONDO:0014868	biolink:NamedThing	developmental and epileptic encephalopathy, 38	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.	mondoexuq1wtf	DEE38|early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38|epileptic encephalopathy, early infantile, 38; EIEE38|epileptic encephalopathy, early infantile, type 38|EIEE38|ARV1 early infantile epileptic encephalopathy											OMIM:617020|DOID:0080417|UMLS:C4310762																		owl:Class
MONDO:0031446	biolink:NamedThing	hypercholanemia, familial 1	A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	mondoexuq1wtf	hereditary hypercholanemia|FHCA1											Orphanet:238475|OMIM:607748|MESH:C564336|UMLS:C1843139|SCTID:723360007																		owl:Class
MONDO:0018419	biolink:NamedThing	autosomal recessive spastic paraplegia type 67	Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.	mondoexuq1wtf	SPG67											ICD10:G11.4|SCTID:766767001|Orphanet:401820|UMLS:CN226126																		owl:Class
MONDO:0006067	biolink:NamedThing	acinar prostate mucinous adenocarcinoma	A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.	mondoexuq1wtf	colloidal adenocarcinoma of the prostate|acinar colloid prostate adenocarcinoma|colloidal adenocarcinoma of prostate|colloidal prostate adenocarcinoma|mucinous adenocarcinoma of the prostate|mucinous adenocarcinoma of prostate|colloid adenocarcinoma of prostate|colloid adenocarcinoma of the prostate|prostate colloid adenocarcinoma											UMLS:C1335513|NCIT:C5537|DOID:3703|EFO:1000065																		owl:Class
MONDO:0001846	biolink:NamedThing	uterine corpus bizarre leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.	mondoexuq1wtf	body of uterus bizarre leiomyoma|bizarre leiomyoma of body of uterus|uterine corpus leiomyoma with bizarre nuclei|uterine corpus Symplastic leiomyoma|uterine corpus bizarre leiomyoma|uterine corpus leiomyoma, atypical variant											DOID:13958|NCIT:C40167|UMLS:C1519853																		owl:Class
MONDO:0013269	biolink:NamedThing	autosomal recessive nonsyndromic deafness 91	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.	mondoexuq1wtf	autosomal recessive deafness 91|deafness, autosomal recessive 91|DFNB91|deafness, autosomal recessive type 91|autosomal recessive nonsyndromic deafness type 91|SERPINB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6											OMIM:613453|DOID:0110536|ICD10:H90.3|UMLS:C3150704																		owl:Class
MONDO:0001412	biolink:NamedThing	conjunctival concretion		mondoexuq1wtf												SCTID:13706005|ICD9:372.54|DOID:11988|COHD:381020|ICD10:H11.12																		owl:Class
MONDO:0020389	biolink:NamedThing	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome		mondoexuq1wtf	APV/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|PVA/PDA, non-Fallot type											UMLS:CN207270|Orphanet:99048|ICD10:Q22.2																		owl:Class
MONDO:0020064	biolink:NamedThing	pulmonary valve agenesis	Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424	mondoexuq1wtf	PVA|absent pulmonary valve syndrome|congenital absence of the pulmonary valve|pulmonary valves agenesis											SCTID:6996004|Orphanet:982|GARD:0004597|ICD10:Q22.2																		owl:Class
MONDO:0013439	biolink:NamedThing	congenital bile acid synthesis defect 3	Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.	mondoexuq1wtf	bile acid synthesis defect, congenital, type 3|oxysterol 7-alpha-hydroxylase deficiency|CBAS3|BASD3|CYP7B1 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in CYP7B1|congenital bile acid synthesis defect type 3|bile acid synthesis defect, congenital, 3											UMLS:C3151147|ICD10:K76.8|UMLS:C4304715|Orphanet:79302|OMIM:613812|SCTID:719454003|MESH:C566340|DOID:0111070																		owl:Class
MONDO:0043096	biolink:NamedThing	holoacardius amorphus		mondoexuq1wtf	amorphous globosus|Holoacardius amorphus|amorphus globosus|fetus anideus											GARD:0002720|SCTID:41049003|Orphanet:2161																		owl:Class
MONDO:0022357	biolink:NamedThing	congenital acardia		mondoexuq1wtf	acardia|congenital absence of the heart					Editor note: axiomatize using HPO; check parent class MONDO:0002254						ICD9:759.89|SCTID:205834002|GARD:0009823														https://rarediseases.info.nih.gov/diseases/9823/acardia				owl:Class
MONDO:0001112	biolink:NamedThing	bubonic plague	A plague in which the bacteria have infected the lymphatic system.	mondoexuq1wtf	black death											ICD10:A20.0|DOID:10773|UMLS:C0282312|SCTID:50797007|GARD:0000183|ICD9:020.0														https://rarediseases.info.nih.gov/diseases/183/bubonic-plague				owl:Class
MONDO:0003579	biolink:NamedThing	retinal nerve fibre layer disorder	A disease that involves the nerve fiber layer of retina.	mondoexuq1wtf	disease or disorder of nerve fiber layer of retina|nerve fiber layer of retina disease or disorder|nerve fibre bundle defect|nerve fiber layer of retina disease|retinal nerve fiber bundle deficiency|retinal nerve fiber bundle defects|disease of nerve fiber layer of retina|disorder of nerve fiber layer of retina											DOID:5678|ICD9:362.85|SCTID:193428001|UMLS:C3665426																		owl:Class
MONDO:0013385	biolink:NamedThing	Treacher Collins syndrome 2	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.	mondoexuq1wtf	TCS2|Treacher Collins syndrome type 2|Treacher Collins syndrome 2|POLR1D Treacher-Collins syndrome|TREACHER COLLINS syndrome 2|Treacher-Collins syndrome caused by mutation in POLR1D											UMLS:C3150983|OMIM:613717																		owl:Class
MONDO:0033954	biolink:NamedThing	monoclonal mast cell activation syndrome		mondoexuq1wtf												Orphanet:529468																		owl:Class
MONDO:0019360	biolink:NamedThing	rickettsialpox		mondoexuq1wtf	vesicular rickettsiosis|Rickettsia akari spotted fever											MedDRA:10039137|COHD:436035|ICD9:083.2|UMLS:C0035597|ICD10:A79.1|SCTID:75096007|Orphanet:83312|DOID:11103																		owl:Class
MONDO:0006736	biolink:NamedThing	dysplasia of cervix	Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.	mondoexuq1wtf												UMLS:C0007868|MESH:D002578|EFO:1000910|SCTID:73391008|ICD9:622.10|MedDRA:10013957|ICD9:622.1|COHD:192367|ICD10:N87|ICD9:622.11																		owl:Class
MONDO:0030036	biolink:NamedThing	leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome		mondoexuq1wtf	LEMSPAD|LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME|Lemspad Syndrome|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome											OMIM:618878																		owl:Class
MONDO:0002245	biolink:NamedThing	blood platelet disease	Disorders caused by abnormalities in platelet count or function.	mondoexuq1wtf	thrombocytopathy|platelet abnormality|platelet disorder											MESH:D001791|SCTID:22716005|NCIT:C131634																		owl:Class
MONDO:0008731	biolink:NamedThing	familial adrenal hypoplasia with absent pituitary luteinizing hormone		mondoexuq1wtf	adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone|familial adrenal hypoplasia with absent pituitary LH|familial adrenal hypoplasia, miniature type											ICD10:E27.1|OMIM:202150|MESH:C565976|Orphanet:95700|UMLS:C1859978																		owl:Class
MONDO:0012761	biolink:NamedThing	chromosome 3q29 microduplication syndrome	3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.	mondoexuq1wtf	trisomy 3q29|3q29 microduplication syndrome|3q29 microduplication|microduplication 3Q29 syndrome|chromosome 3q29 DUPLICATION syndrome											SCTID:717973004|GARD:0010360|UMLS:C2749873|Orphanet:251038|OMIM:611936|MESH:C567626|DOID:0060459|ICD10:Q92.3														https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome				owl:Class
MONDO:0009440	biolink:NamedThing	ichthyosiform erythroderma, corneal involvement, and deafness		mondoexuq1wtf	ichthyosiform erythroderma, corneal involvement, deafness|ichthyosiform erythroderma, corneal involvement, and deafness|keratitis-ichthyosis-deafness syndrome, autosomal recessive|Kid syndrome, autosomal recessive|Desmons syndrome											GARD:0002946|MESH:C537363|SCTID:403780007|UMLS:C1275089|OMIM:242150																		owl:Class
MONDO:0012640	biolink:NamedThing	Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	mondoexuq1wtf	autosomal recessive Charcot-Marie-Tooth disease type 4J|FIG4 Charcot-Marie-Tooth disease type 4|CMT4J|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|Charcot-Marie-Tooth disease, type 4J|Charcot-Marie-Tooth disease, autosomal recessive, type 4J											GARD:0012443|Orphanet:139515|UMLS:C1970011|MESH:C566984|OMIM:611228|NCIT:C134954|DOID:0110184|SCTID:720638000|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j				owl:Class
MONDO:0012687	biolink:NamedThing	familial cavitary optic disc anomaly		mondoexuq1wtf	cavitary optic DISC anomalies|familial CODA|CODA											OMIM:611543|Orphanet:464760|MESH:C566924|UMLS:C1969063																		owl:Class
MONDO:0003403	biolink:NamedThing	testicular non-seminomatous germ cell cancer	A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.	mondoexuq1wtf	malignant testicular non-seminomatous germ cell tumor|malignant non-seminomatous germ cell cancer of testis|testicular non-seminomatous germ cell cancer|testicular non-seminomatous germ cell tumor, malignant|malignant non-seminomatous germ cell tumor of testis|malignant non-seminomatous germ cell cancer of the testis|malignant non-seminomatous germ cell neoplasm of the testis|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell tumor of the testis|malignant testicular non-seminomatous germ cell neoplasm|malignant non-seminomatous germ cell neoplasm of testis|testicular germ cell tumor non-seminomatous, malignant					Editor note: TODO owldef						DOID:5345|UMLS:C1334625|NCIT:C5027																		owl:Class
MONDO:0018873	biolink:NamedThing	anterior cutaneous nerve entrapment syndrome	Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.	mondoexuq1wtf	rectus abdominis syndrome|intercostal nerve syndrome|ACNES											ICD10:G58.0|Orphanet:51890|UMLS:CN776944																		owl:Class
MONDO:0017868	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia	Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	mondoexuq1wtf												Orphanet:319192|ICD10:Q04.8																		owl:Class
MONDO:0002133	biolink:NamedThing	chronic rheumatic pericarditis	Chronic form of rheumatic pericarditis.	mondoexuq1wtf	rheumatic pericarditis, chronic											ICD9:393|COHD:321307|ICD10:I09.2|SCTID:78069008|UMLS:C0155561|DOID:1869																		owl:Class
MONDO:0015793	biolink:NamedThing	moderate multiminicore disease with hand involvement		mondoexuq1wtf												Orphanet:178145|ICD10:G71.2|UMLS:C1861753																		owl:Class
MONDO:0019424	biolink:NamedThing	X-linked intellectual disability-acromegaly-hyperactivity syndrome	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	mondoexuq1wtf												UMLS:CN227631|ICD10:Q87.8|Orphanet:85327																		owl:Class
MONDO:0034110	biolink:NamedThing	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome		mondoexuq1wtf												Orphanet:544628																		owl:Class
MONDO:0030841	biolink:NamedThing	mismatch repair cancer syndrome 3		mondoexuq1wtf	mismatch repair cancer syndrome 3|MMRCS3											OMIM:619097																		owl:Class
MONDO:0001964	biolink:NamedThing	chronic tubotympanic suppurative otitis media	A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.	mondoexuq1wtf												UMLS:C0155440|ICD10:H66.10|ICD9:382.1|SCTID:87665008|ICD10:H66.1|DOID:14435|COHD:375290																		owl:Class
MONDO:0005975	biolink:NamedThing	suppurative otitis media	Inflammation of the middle ear with purulent discharge.	mondoexuq1wtf	otitis media with effusion - purulent|purulent otitis media											ICD9:382|ICD10:H66|UMLS:C0029888|ICD10:H66.40|COHD:376712|EFO:0007503|MESH:D010035|SCTID:39288006|ICD9:382.4|DOID:11506|ICD10:H66.4																		owl:Class
MONDO:0022071	biolink:NamedThing	carbon baby syndrome	Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.	mondoexuq1wtf	universal acquired melanosis											GARD:0001089|SCTID:238700008|UMLS:C0406419														https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome				owl:Class
MONDO:0004834	biolink:NamedThing	ischemic fasciitis	A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.	mondoexuq1wtf	atypical decubital fibroplasia											DOID:9601|SCTID:403990005|UMLS:C1304514|NCIT:C6483																		owl:Class
MONDO:0003175	biolink:NamedThing	salivary gland adenoid cystic carcinoma	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.	mondoexuq1wtf	salivary gland adenoid cystic cancer|adenoid cystic carcinoma of the salivary gland|saliva-secreting gland adenoid cystic carcinoma|adenoid cystic carcinoma (morphologic abnormality)|adenoid cystic carcinoma of salivary gland|adenoid cystic cancer|salivary gland adenoid cystic carcinoma|cylindroma (morphologic abnormality)											GARD:0012346|DOID:4866|NCIT:C8026|UMLS:C0279751|SCTID:422833009																		owl:Class
MONDO:0015566	biolink:NamedThing	2q24 microdeletion syndrome	2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	mondoexuq1wtf	Del(2)(q24)|2q24 deletion|monosomy 2q24|deletion 2q24|chromosome 2q24 microdeletion syndrome											MESH:C538316|ICD10:Q93.5|UMLS:CN036809|Orphanet:1617|GARD:0003746|SCTID:719658006																		owl:Class
MONDO:0017994	biolink:NamedThing	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency		mondoexuq1wtf												UMLS:CN204200|Orphanet:329249|ICD10:E66.8																		owl:Class
MONDO:0009566	biolink:NamedThing	marfanoid habitus-autosomal recessive intellectual disability syndrome	Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.	mondoexuq1wtf	Marfanoid intellectual disability syndrome autosomal|Marfanoid mental retardation syndrome autosomal|MARFANOID intellectual disability syndrome, autosomal|MARFANOID mental retardation syndrome, autosomal											ICD10:Q87.8|Orphanet:2463|UMLS:C1855347|MESH:C565410|GARD:0003388|OMIM:248770																		owl:Class
MONDO:0030074	biolink:NamedThing	spondylometaphyseal dysplasia with corneal dystrophy		mondoexuq1wtf	spondylometaphyseal dysplasia with corneal dystrophy|SMDCD|SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY											OMIM:618961																		owl:Class
MONDO:0012675	biolink:NamedThing	corticosteroid-binding globulin deficiency	Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.	mondoexuq1wtf	corticosteroid-binding globulin deficiency|corticosteroid-binding globulin, elevated|Transcortin deficiency|CBG deficiency|transcortin deficiency|Cbg deficiency											OMIM:611489|Orphanet:199247|GARD:0013101|UMLS:C1852529|ICD10:E27.8|DOID:0090030														https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency				owl:Class
MONDO:0011187	biolink:NamedThing	polydactyly, postaxial, type A2		mondoexuq1wtf	postaxial polydactyly, type A2|PAPA2|polydactyly, postaxial, type A2											OMIM:602085|UMLS:C1865883|MESH:C566585																		owl:Class
MONDO:0001119	biolink:NamedThing	premature menopause	Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.	mondoexuq1wtf	premature ovarian failure|menopause praecox|premature menopause|early menopause|POF|menopause - premature											ICD9:256.31|ICD9:256.39|COHD:198715|MESH:D008594|SCTID:237788002|ICD10:E28.31|UMLS:C0025322|ICD10:E28.319|DOID:10787|NCIT:C80099																		owl:Class
MONDO:0000978	biolink:NamedThing	extrahepatic bile duct lipoma	A rare benign adipose tissue neoplasm of the extrahepatic bile duct.	mondoexuq1wtf	lipoma of extrahepatic bile duct|extrahepatic bile duct lipoma|lipoma of the extrahepatic bile duct											DOID:10209|NCIT:C5854|UMLS:C1333509																		owl:Class
MONDO:0006138	biolink:NamedThing	cervical large cell neuroendocrine carcinoma	A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.	mondoexuq1wtf	cervical large cell neuroendocrine carcinoma|cervical neuroendocrine tumor											ONCOTREE:CENE|UMLS:C1516417|DOID:6659|EFO:1000167|NCIT:C40214																		owl:Class
MONDO:0018596	biolink:NamedThing	systemic polyarteritis nodosa	Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.	mondoexuq1wtf	systemic PAN|systemic periarteritis nodosa											Orphanet:439762|ICD10:M30.0|UMLS:CN242146																		owl:Class
MONDO:0011586	biolink:NamedThing	otosclerosis 2		mondoexuq1wtf	otosclerosis 2|OTSC2											OMIM:605727|MESH:C565302|UMLS:C1854022																		owl:Class
MONDO:0000147	biolink:NamedThing	polyposis		mondoexuq1wtf	multiple polyps|polyposis											UMLS:C0334108|NCIT:C4089|DC:0000587																		owl:Class
MONDO:0004707	biolink:NamedThing	anal canal carcinoma in situ	A carcinoma in situ involving a anal canal.	mondoexuq1wtf	stage 0 anal canal cancer aJCC v7|anal intraepithelial neoplasia grade III|stage 0 anal carcinoma aJCC v6 and v7|stage 0 anal canal carcinoma|anal canal in situ carcinoma|stage 0 anal canal cancer aJCC v6 and v7|stage 0 anal canal carcinoma aJCC v6 and v7|anal carcinoma stage 0|stage 0 anal canal cancer|carcinoma in situ of anal canal|stage 0 anal canal cancer aJCC v6|carcinoma in situ of anus|stage 0 anal carcinoma in situ|anal carcinoma in situ											NCIT:C7794|ICD9:230.6|UMLS:C2242854|UMLS:C0154064|SCTID:92531006|DOID:9087|ICD9:230.5																		owl:Class
MONDO:0008335	biolink:NamedThing	short stature-craniofacial anomalies-genital hypoplasia syndrome	Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.	mondoexuq1wtf	Haspeslagh syndrome|pterygia, mental retardation and distinctive craniofacial features|pterygia, intellectual disability and distinctive craniofacial features|pterygia intellectual disability facial dysmorphism|pterygia mental retardation facial dysmorphism|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, intellectual disability, and distinctive craniofacial features|pterygia, mental retardation, and distinctive craniofacial features											UMLS:C1867443|GARD:0002605|SCTID:716090004|ICD10:Q87.8|OMIM:177980|Orphanet:2994|MESH:C535844																		owl:Class
MONDO:0018675	biolink:NamedThing	IgG4-related ophthalmic disease	A IgG4-related disease that involves the eye.	mondoexuq1wtf	IgG4-related disease of eye|eye IgG4-related disease											ICD10:H05.1|UMLS:CN237741|Orphanet:449563																		owl:Class
MONDO:0013124	biolink:NamedThing	pelvic organ prolapse, susceptibility to, 2		mondoexuq1wtf	pelvic organ prolapse, susceptibility to, 2|Pvop2|pelvic organ prolapse, susceptibility to, type 2											OMIM:613088																		owl:Class
MONDO:0017836	biolink:NamedThing	erythrokeratoderma en cocardes	Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.	mondoexuq1wtf	Degos genodermatosis 'en cocardes'|erythrokeratoderma 'en cocardes'|Degos genodermatosis|Degos 'en cocarde' erythrokeratoderma|Degos genodermatosis "en cocardes"|erythrokeratoderma ''en cocardes''|erythrokeratoderma "en cocardes"											ICD9:447.8|ICD10:Q82.8|Orphanet:315|UMLS:CN203813|SCTID:239062001|GARD:0001722														https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma				owl:Class
MONDO:0001360	biolink:NamedThing	blind hypotensive eye		mondoexuq1wtf												COHD:378742|ICD9:360.41|DOID:11766|UMLS:C0154788|SCTID:23360000																		owl:Class
MONDO:0016669	biolink:NamedThing	sickle cell-hemoglobin c disease syndrome		mondoexuq1wtf	HbSC disease|sickle cell - hemoglobin C disease											UMLS:C0019034|GARD:0006584|MedDRA:10057072|ICD10:D57.2|Orphanet:251365																		owl:Class
MONDO:0033640	biolink:NamedThing	vitamin D-dependent rickets, type 3		mondoexuq1wtf	VDDR3											OMIM:619073																		owl:Class
MONDO:0056796	biolink:NamedThing	obstructive nephropathy	Renal damage and impaired renal function secondary to urinary tract obstruction.	mondoexuq1wtf	congenital obstructive nephropathy|obstructive nephropathy											SCTID:86249007|UMLS:C0149939|NCIT:C120902|ICD9:593.89|DOID:0070314																		owl:Class
MONDO:0014017	biolink:NamedThing	autism, susceptibility to, 18		mondoexuq1wtf	autism, susceptibility to, 18|AUTS18|autism, susceptibility to, type 18|susceptibility to autism 18											OMIM:615032																		owl:Class
MONDO:0016128	biolink:NamedThing	parasitic myositis		mondoexuq1wtf												SCTID:60970005|ICD10:M60.0|ICD9:728.2|UMLS:C0263997|Orphanet:206997																		owl:Class
MONDO:0013950	biolink:NamedThing	peroxisome biogenesis disorder 11B		mondoexuq1wtf	PBD11B|peroxisome biogenesis disorder type 11B|peroxisome biogenesis disorder 11B											OMIM:614885|UMLS:C3554001														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100267	biolink:NamedThing	peroxisome biogenesis disorder due to PEX13 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX13 defect|PEX13 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0021023	biolink:NamedThing	complete androgen insensitivity syndrome	Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.	mondoexuq1wtf	complete androgen resistance syndrome|CAIS|androgen insensitivity syndrome, complete											ICD10:E34.5|GARD:0010597|UMLS:CN207337|ICD10:E34.51|Orphanet:99429|NCIT:C120191|SCTID:368851000119102														https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome				owl:Class
MONDO:0006214	biolink:NamedThing	follicular variant thyroid gland papillary carcinoma	A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.	mondoexuq1wtf	FVPTC											UMLS:C3714651|NCIT:C126594|EFO:1000261																		owl:Class
MONDO:0044202	biolink:NamedThing	episodic kinesigenic dyskinesia	Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.	mondoexuq1wtf	familial paroxysmal kinesigenic dyskinesia|EKD|familial PKD|paroxysmal kinesigenic choreathetosis											OMIMPS:128200|Orphanet:98809																		owl:Class
MONDO:0044781	biolink:NamedThing	nephrotic syndrome of childhood - steroid sensitive	Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.	mondoexuq1wtf	steroid-sensitive nephrotic syndrome|nephrotic syndrome of childhood - steroid sensitive|steroid-responsive nephrotic syndrome											UMLS:C0403396|NCIT:C122797|SCTID:236380004																		owl:Class
MONDO:0019898	biolink:NamedThing	distal monosomy 14q	Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.	mondoexuq1wtf	telomeric deletion 14q|distal monosomy type 14q|distal deletion 14q											Orphanet:96150|ICD10:Q93.5																		owl:Class
MONDO:0004438	biolink:NamedThing	sporadic breast cancer	A carcinoma that arises from the breast and is not caused by inherited genetic mutations.	mondoexuq1wtf	sporadic breast cancer|sporadic breast carcinoma											NCIT:C7566|DOID:8029|UMLS:C1336076																		owl:Class
MONDO:0030035	biolink:NamedThing	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome		mondoexuq1wtf	LEUDEN|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME|Leuden Syndrome											OMIM:618877																		owl:Class
MONDO:0012312	biolink:NamedThing	short QT syndrome type 1	Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.	mondoexuq1wtf	SQT1|short QT syndrome 1|SQTS|KCNH2 short QT syndrome|short QT syndrome caused by mutation in KCNH2|short QT syndrome type 1											MESH:C566506|UMLS:C1865020|OMIM:609620																		owl:Class
MONDO:0010805	biolink:NamedThing	bladder exstrophy	Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.	mondoexuq1wtf	ectopia vesicae|exstrophy of bladder|bladder exstrophy|exstrophy of the bladder|bladder exstrophy (disease)|bladder exstrophy and epispadias Complex|classic exstrophy of the bladder		bladder exstrophy (disease)									NCIT:C123207|DOID:0080174|OMIM:600057|Orphanet:93930|HP:0002836|UMLS:C0005689|GARD:0006398|ICD9:753.5|SCTID:61758007|ICD10:Q64.1																		owl:Class
MONDO:0015636	biolink:NamedThing	dirofilariasis	Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.	mondoexuq1wtf	Dirofilaria disease or disorder|Dirofilaria caused disease or disorder|infection by Dirofilaria|Dirofilaria infectious disease											SCTID:73328005|UMLS:C0012602|GARD:0011908|ICD10:B74.8|Orphanet:166291|DOID:1082|MESH:D004184|EFO:0007239|ICD9:125.6														https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis				owl:Class
MONDO:0011851	biolink:NamedThing	migraine with or without aura, susceptibility to, 6		mondoexuq1wtf	MGR6|migraine with or without aura, susceptibility to, 6|migraine, familial hemiplegic, 4|migraine with or without aura, susceptibility to, type 6											OMIM:607516|MESH:C564385																		owl:Class
MONDO:0013638	biolink:NamedThing	Warburg micro syndrome 3	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.	mondoexuq1wtf	micro syndrome 3|Warburg micro syndrome caused by mutation in RAB18|Warburg micro syndrome 3|WARBURG micro syndrome 3|WARBM3|Warburg micro syndrome type 3|RAB18 Warburg micro syndrome											OMIM:614222|DOID:0110718|UMLS:C3280203|ICD10:Q87.0																		owl:Class
MONDO:0011521	biolink:NamedThing	inflammatory bowel disease 7	An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.	mondoexuq1wtf	inflammatory bowel disease 7|IBD7|inflammatory bowel disease type 7											OMIM:605225|UMLS:C1854573|MESH:C565353|DOID:0110882																		owl:Class
MONDO:0014619	biolink:NamedThing	trichothiodystrophy 3, photosensitive		mondoexuq1wtf	TTD3|trichothiodystrophy 3, photosensitive|trichothiodystrophy, complementation group A											OMIM:616395|UMLS:C4017171																		owl:Class
MONDO:0021321	biolink:NamedThing	malignant tumor of extrahepatic bile duct	A cancer that involves the extrahepatic bile duct.	mondoexuq1wtf	malignant neoplasm of extrahepatic bile duct|extrahepatic bile duct cancer|malignant extrahepatic bile duct tumor|malignant tumor of the extrahepatic bile duct|malignant neoplasm of the extrahepatic bile duct|cancer of extrahepatic bile duct|malignant extrahepatic bile duct neoplasm											UMLS:C0153453|ICD9:156.1|NCIT:C7483|SCTID:363416002|ICD9:156.8																		owl:Class
MONDO:0008612	biolink:NamedThing	tuberous sclerosis 1	Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).	mondoexuq1wtf	tuberous sclerosis, type 1|tuberous sclerosis Complex|TSC1|tuberous sclerosis type 1|TSC1 tuberous sclerosis|tuberous sclerosis 1|tuberose sclerosis|tuberous sclerosis caused by mutation in TSC1											GARD:0005380|DOID:0080324|OMIM:191100|NCIT:C75122																		owl:Class
MONDO:0054737	biolink:NamedThing	Fraser syndrome 1		mondoexuq1wtf	cryptophthalmos with Other malformations|cryptophthalmos-syndactyly syndrome|FRASRS1|Fraser syndrome|Fraser syndrome 1											OMIM:219000|DOID:0111405																		owl:Class
MONDO:0004148	biolink:NamedThing	gallbladder papillary neoplasm with an associated invasive carcinoma	An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.	mondoexuq1wtf	gallbladder papillary neoplasm with an associated invasive cancer|intracystic papillary neoplasm with an associated invasive carcinoma|papillary carcinoma of the gallbladder|gallbladder papillary neoplasm with an associated invasive carcinoma|papillary carcinoma of gallbladder|gallbladder papillary carcinoma|gall bladder papillary carcinoma											DOID:7221|UMLS:C1333753|NCIT:C5743|ICDO:8503/3																		owl:Class
MONDO:0009502	biolink:NamedThing	pyruvate dehydrogenase E2 deficiency	Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.	mondoexuq1wtf	PDHDD|pyruvate dehydrogenase complex component E2 deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex|pyruvate dehydrogenase E2 deficiency|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency											ICD10:E74.4|OMIM:245348|Orphanet:79244|MESH:C565448|UMLS:C1855565																		owl:Class
MONDO:0700003	biolink:NamedThing	obstetric disorder	Disorder associated with pregnancy, childbirth, and puerperium.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0001943	biolink:NamedThing	Plasmodium malariae malaria	Malaria resulting from infection by Plasmodium malariae.	mondoexuq1wtf	quartan malaria|malaria by Plasmodium malariae											UMLS:C0024536|SCTID:27618009|ICD9:084.2|NCIT:C34799|DOID:14324|ICD10:B52.9|ICD10:B52																		owl:Class
MONDO:0030928	biolink:NamedThing	microcephaly 26, primary, autosomal dominant		mondoexuq1wtf	MCPH26|microcephaly 26, primary, autosomal dominant											OMIM:619179																		owl:Class
MONDO:0019964	biolink:NamedThing	thymic neuroendocrine tumor	Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.	mondoexuq1wtf	thymus neuroendocrine tumor, well differentiated, low or intermediate grade|thymus neuroendocrine tumor|thymus NET|neuroendocrine neoplasm of thymus|thymus neuroendocrine neoplasm											Orphanet:97289|UMLS:CN206887|ONCOTREE:TNET|ICD10:D38.4																		owl:Class
MONDO:0024354	biolink:NamedThing	cytomegalovirus pneumonia	Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.	mondoexuq1wtf	Cytomegalovirus caused pneumonia|Cytomegalovirus pneumonia|CMV pneumonia|cytomegalovirus pneumonia|Cytomegaloviral pneumonia											NCIT:C35360|SCTID:7678002|UMLS:C0276253																		owl:Class
MONDO:0017870	biolink:NamedThing	supravalvular pulmonary stenosis		mondoexuq1wtf	pulmonary supravalvular stenosis											ICD10:Q25.6|Orphanet:3192|GARD:0004594														https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis				owl:Class
MONDO:0016571	biolink:NamedThing	macrocephaly-short stature-paraplegia syndrome	Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.	mondoexuq1wtf	Volcke-Soekarman syndrome											Orphanet:2427|SCTID:722033000|MESH:C537718																		owl:Class
MONDO:0017408	biolink:NamedThing	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.	mondoexuq1wtf	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|ROHHAD|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHADNET											NCIT:C121944|GARD:0010407|UMLS:C4053506|UMLS:CN203158|Orphanet:293987																		owl:Class
MONDO:0016322	biolink:NamedThing	neuroendocrine cell hyperplasia of infancy	Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.	mondoexuq1wtf	NEHI|chronic tachypnoe of infancy|NCHI|CTI											SCTID:707435002|UMLS:C3161105|NCIT:C120169|ICD10:J84.841|Orphanet:217560																		owl:Class
MONDO:0008604	biolink:NamedThing	triphalangeal thumb with double phalanges		mondoexuq1wtf	triphalangeal thumb with double phalanges											OMIM:190500|MESH:C566028|UMLS:C1860807																		owl:Class
MONDO:0009960	biolink:NamedThing	inflammatory bowel disease 1	Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.	mondoexuq1wtf	ulcerative colitis, pediatric|ulcerative colitis|inflammatory bowel disease 1|Crohn disease|NOD2 inflammatory bowel disease|regional enteritis|Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease caused by mutation in NOD2|inflammatory bowel disease type 1|IBD1|pediatric ulcerative colitis											OMIM:266600|GARD:0009857|ICD9:555.9|SCTID:34000006|DOID:0110892																		owl:Class
MONDO:0008607	biolink:NamedThing	triphalangeal thumbs-brachyectrodactyly syndrome	Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.	mondoexuq1wtf	triphalangeal thumbs brachyectrodactyly|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumbs with brachyectrodactyly|triphalangeal thumb and brachyectrodactyly syndrome|triphalangeal thumb and brachy-ectrodactyly syndrome											OMIM:190680|GARD:0005290|Orphanet:2947|ICD10:Q74.8|UMLS:C1860804|MESH:C536564																		owl:Class
MONDO:0008001	biolink:NamedThing	milia, multiple eruptive		mondoexuq1wtf	MEM|milia, multiple eruptive											OMIM:157400|MESH:C562823|SCTID:238749001|UMLS:C0343079																		owl:Class
MONDO:0012985	biolink:NamedThing	hereditary spherocytosis type 5	Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.	mondoexuq1wtf	spherocytosis, type 5|hereditary spherocytosis 5|EPB42 hereditary spherocytosis|HS5|hereditary spherocytosis caused by mutation in EPB42|SPH5|spherocytosis, hereditary, 5											UMLS:C2675192|MESH:C567202|OMIM:612690|DOID:0110920																		owl:Class
MONDO:0014717	biolink:NamedThing	early-onset Lafora body disease	Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.	mondoexuq1wtf	EPM10|epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10											SCTID:733082001|ICD10:G40.3|OMIM:616640|UMLS:C4225258|Orphanet:324290|UMLS:C4518574|DOID:0111445																		owl:Class
MONDO:0014579	biolink:NamedThing	Senior-Loken syndrome 8	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.	mondoexuq1wtf	SENIOR-Loken syndrome 8|Senior-Loken syndrome caused by mutation in WDR19|SLSN8|Senior-Loken syndrome type 8|Senior-Loken syndrome 8|WDR19 Senior-Loken syndrome											OMIM:616307|UMLS:C4225376																		owl:Class
MONDO:0012605	biolink:NamedThing	isolated microphthalmia 5	Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.	mondoexuq1wtf	MFRP isolated microphthalmia|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia, isolated 5|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia caused by mutation in MFRP|microphthalmia, isolated type 5|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|MCOP5|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|isolated microphthalmia type 5											ICD10:Q15.8|MESH:C567024|UMLS:C1970236|DOID:0060837|OMIM:611040|Orphanet:251279																		owl:Class
MONDO:0004229	biolink:NamedThing	acantholytic variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.	mondoexuq1wtf	squamous cell breast carcinoma, acantholytic variant											UMLS:C1519485|EFO:1001969|DOID:7459|NCIT:C40359																		owl:Class
MONDO:0004488	biolink:NamedThing	cervical atypical polypoid adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.	mondoexuq1wtf												UMLS:C1516409|NCIT:C40234|DOID:8179																		owl:Class
MONDO:0014262	biolink:NamedThing	Rienhoff syndrome	Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.	mondoexuq1wtf	LDS5|Rienhoff syndrome|Loeys-Dietz syndrome 5|Loeys-Dietz syndrome type 5											GARD:0012356|EFO:1000012|DOID:0070236|UMLS:C3810012|OMIM:615582														https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome				owl:Class
MONDO:0015908	biolink:NamedThing	chromomycosis	Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.	mondoexuq1wtf	mossy foot disease|dermatitis Verrucosa|Chromomycosis|Chromomycoses|Chromoblastomycoses|chromomycosis|chromoblastomycosis					Editor note: check cutaneous vs subcutaneous						UMLS:C3245522|SCTID:187079000|ICD10:B43.9|ICD10:B43.0|MedDRA:10008803|MESH:D002862|Orphanet:182|ICD10:B43.1|COHD:437796|GARD:0001319|DOID:1562|UMLS:C0008582|ICD9:117.2|ICD10:B43.2|EFO:0007207|ICD10:B43.8																		owl:Class
MONDO:0012241	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.	mondoexuq1wtf	progressive external ophthalmoplegia, autosomal dominant 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|PEOA3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK											UMLS:C1836439|DOID:0111520|MESH:C563747|OMIM:609286																		owl:Class
MONDO:0022666	biolink:NamedThing	cassavism		mondoexuq1wtf												GARD:0010442														https://rarediseases.info.nih.gov/diseases/10442/cassavism				owl:Class
MONDO:0011567	biolink:NamedThing	dilated cardiomyopathy 1K	A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.	mondoexuq1wtf	CMD1K|cardiomyopathy, dilated, 1K|dilated cardiomyopathy type 1K											OMIM:605582|DOID:0110437|MESH:C565320|ICD10:I42.0|UMLS:C1854159																		owl:Class
MONDO:0023129	biolink:NamedThing	Fara Chlupackova syndrome		mondoexuq1wtf	familial oto-facio-cervical dysmorphia											MESH:C537074|UMLS:C2931416|GARD:0002273														https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome				owl:Class
MONDO:0035008	biolink:NamedThing	isolated splenic vein thrombosis		mondoexuq1wtf												Orphanet:583856																		owl:Class
MONDO:0031008	biolink:NamedThing	nephrotic syndrome, type 24		mondoexuq1wtf	NPHS24											OMIM:619263																		owl:Class
MONDO:0005141	biolink:NamedThing	Pseudomonas infection	Infections with bacteria of the genus pseudomonas.	mondoexuq1wtf	Pseudomonas infectious disease|Pseudomonas disease or disorder|Pseudomonas caused disease or disorder											EFO:0001076|SCTID:63398001|ICD9:041.7|MESH:D011552																		owl:Class
MONDO:0003782	biolink:NamedThing	uterine corpus epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	mondoexuq1wtf	body of uterus epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus|uterine epithelioid leiomyosarcoma|uterine corpus epithelioid leiomyosarcoma					Editor note: check ONCOTREE mapping						UMLS:C1519851|DOID:6139|NCIT:C40174|ONCOTREE:UELMS																		owl:Class
MONDO:0001878	biolink:NamedThing	acquired hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.	mondoexuq1wtf	adult hypertrophic pyloric stenosis|acquired gastric outlet stenosis|acquired hypertrophic pyloric stenosis											DOID:14099|ICD9:537.0|COHD:198191|UMLS:C2937286|SCTID:266438007																		owl:Class
MONDO:0001913	biolink:NamedThing	oligospermia	Decreased number of spermatozoa in the semen.	mondoexuq1wtf												MESH:D009845|ICD9:606.1|ICD10:N46.1|ICD10:N46.11|DOID:14228|HP:0000798|UMLS:C0028960																		owl:Class
MONDO:0012324	biolink:NamedThing	Frias syndrome	A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	mondoexuq1wtf	monosomy 14q22-q23|Frias syndrome|14q22-q23 microdeletion syndrome|14q22q23 microdeletion syndrome|Del(14)(q22q23)|monosomy 14q22q23|Growth deficiency, Facial anomalies, and brachydactyly|chromosome 14Q22 deletion syndrome											UMLS:C1864825|MESH:C535639|ICD10:Q93.5|GARD:0002384|Orphanet:2055|Orphanet:264200|OMIM:609640																		owl:Class
MONDO:0004209	biolink:NamedThing	cerebral primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.	mondoexuq1wtf	primitive neuroectodermal tumor of cerebrum|PNET of the cerebrum|cerebral hemisphere primitive neuroectodermal neoplasm|cerebral primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of the cerebrum|cerebral hemisphere PNET|primitive neuroectodermal neoplasm of the cerebral hemispheres|PNET of the cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|PNET of cerebrum|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral PNET|cerebral primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of the cerebrum|primitive neuroectodermal neoplasm of cerebral hemispheres|PNET of cerebral hemispheres|primitive neuroectodermal neoplasm of cerebrum|primitive neuroectodermal tumor of cerebral hemispheres											DOID:7398|NCIT:C4970|UMLS:C0751675																		owl:Class
MONDO:0100352	biolink:NamedThing	episodic kinesigenic dyskinesia 1		mondoexuq1wtf	PxMD-PRRT2|EKD1|paroxysmal kinesigenic dyskinesia|dystonia 10|PRRT2 episodic kinesigenic dyskinesia|dystonia, familial paroxysmal|episodic kinesigenic dyskinesia caused by mutation in PRRT2|episodic kinesigenic dyskinesia 1|episodic kinesigenic dyskinesia type 1|paroxysmal kinesigenic choreoathetosis|DYT-PRRT2							http://orcid.org/0000-0001-5208-3432				ICD9:333.5|SCTID:609221008|MESH:C537180|GARD:0008721|OMIM:128200|DOID:0090053|ICD10:G24.8																		owl:Class
MONDO:0011331	biolink:NamedThing	congenital chylothorax	Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.	mondoexuq1wtf	chylothorax, congenital|hydrothorax, congenital											GARD:0010156|OMIM:603523|ICD9:511.89|MESH:C535461|DOID:0060646|SCTID:233646003|UMLS:C0340014|Orphanet:264688|ICD10:I89.8														https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital				owl:Class
MONDO:0023040	biolink:NamedThing	ectodermal dysplasia Bartalos type		mondoexuq1wtf												GARD:0002043														https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type				owl:Class
MONDO:0043199	biolink:NamedThing	short limb dwarf lethal colavita kozlowski type		mondoexuq1wtf	Colavita Kozlowski syndrome											MESH:C537597|UMLS:C2931544|GARD:0004823																		owl:Class
MONDO:0007685	biolink:NamedThing	granulosis rubra nasi		mondoexuq1wtf	granulosis rubra nasi											MESH:C562483|OMIM:139000|UMLS:C0263471|SCTID:22818000|ICD9:705.89																		owl:Class
MONDO:0010676	biolink:NamedThing	muscular dystrophy, Hemizygous lethal type		mondoexuq1wtf	muscular dystrophy, Hemizygous lethal type											UMLS:C1839671|MESH:C564097|OMIM:309950																		owl:Class
MONDO:0017211	biolink:NamedThing	infectious panuveitis		mondoexuq1wtf												Orphanet:279925|ICD10:H44.1																		owl:Class
MONDO:0008795	biolink:NamedThing	aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.	mondoexuq1wtf	Gillespie syndrome|aniridia, cerebellar ataxia, and intellectual disability|GLSP|aniridia, cerebellar ataxia and mental deficiency|aniridia, cerebellar ataxia, and mental retardation|GILLESPIE syndrome											ICD10:G11.0|UMLS:C0431401|MESH:C536370|ICD9:759.89|GARD:0000013|DOID:0111578|Orphanet:1065|OMIM:206700|SCTID:253176002																		owl:Class
MONDO:0003710	biolink:NamedThing	ovarian mixed germ cell neoplasm	An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.	mondoexuq1wtf	ovary mixed germ cell tumor|mixed germ cell neoplasm of ovary|mixed germ cell neoplasm of the ovary|ovarian mixed germ cell neoplasm|ovarian mixed germ cell tumor|mixed germ cell tumor of ovary|mixed germ cell tumor of the ovary|mixed germ cell tumor											NCIT:C8114|ONCOTREE:OMGCT|UMLS:C0280135|DOID:5936																		owl:Class
MONDO:0018043	biolink:NamedThing	Thomas syndrome	Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	mondoexuq1wtf	Potter sequence-cleft lip/palate-cardiopathy syndrome											UMLS:C2931225|GARD:0005175|MESH:C536514|ICD10:Q87.8|Orphanet:3316|SCTID:716740009																		owl:Class
MONDO:0016174	biolink:NamedThing	paraneoplastic sensory ganglionopathy		mondoexuq1wtf	paraneoplastic sensory neuronopathy											Orphanet:208999																		owl:Class
MONDO:0011203	biolink:NamedThing	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies		mondoexuq1wtf	skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild|Pierre Robin sequence with pectus excavatum and rib and scapular anomalies											OMIM:602196|MESH:C535775|UMLS:C1865783|GARD:0010090														https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies				owl:Class
MONDO:0012195	biolink:NamedThing	arthrogryposis-severe scoliosis syndrome	Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.	mondoexuq1wtf	DA4|arthrogryposis, distal, type 2D|arthrogryposis, distal, type 4|arthrogryposis with Severe scoliosis|distal arthrogryposis type 4|distal arthrogryposis type IID											ICD10:Q68.8|UMLS:C1836756|OMIM:609128|SCTID:715575001|Orphanet:65720|MESH:C563791																		owl:Class
MONDO:0008533	biolink:NamedThing	teeth, supernumerary	An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.	mondoexuq1wtf	teeth, supernumerary											SCTID:8666004|MESH:D014096|ICD10:K00.1|OMIM:187100																		owl:Class
MONDO:0014646	biolink:NamedThing	Zimmermann-Laband syndrome 2	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.	mondoexuq1wtf	ZLS2|Zimmermann-Laband syndrome type 2|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|Zimmermann-Laband syndrome 2|ATP6V1B2 Zimmermann-Laband syndrome											UMLS:C4225321|OMIM:616455																		owl:Class
MONDO:0018890	biolink:NamedThing	Lyell syndrome	Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.	mondoexuq1wtf												UMLS:CN205258|ICD10:L51.2|Orphanet:537																		owl:Class
MONDO:0019810	biolink:NamedThing	toxic epidermal necrolysis	Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.	mondoexuq1wtf	Lyell syndrome|toxic epidermolysis|SJS-TEN|Lyell's syndrome|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|TEN											NCIT:C79777|EFO:0004775|UMLS:C0014518|ICD10:L51.2|SCTID:23067006|MedDRA:10044223|ICD9:695.15|Orphanet:95455|GARD:0007743														https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis				owl:Class
MONDO:0100378	biolink:NamedThing	acute myeloid leukemia, t(10;11)(p11.2;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)	mondoexuq1wtf	AML, t(10;11)(p11.2;q23)																													owl:Class
MONDO:0005597	biolink:NamedThing	cystic renal cell carcinoma	Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.	mondoexuq1wtf												PMID:3739121|EFO:0006388																		owl:Class
MONDO:0022826	biolink:NamedThing	congenital cystic eye multiple ocular and intracranial anomalies		mondoexuq1wtf												GARD:0001479														https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies				owl:Class
MONDO:0017078	biolink:NamedThing	cephalocele	A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.	mondoexuq1wtf	encephalocele|cephalocele (disease)|cephalocele|cranium bifidum		cephalocele (disease)									NCIT:C84687|ICD10:Q01.0|SCTID:55999004|ICD10:Q01.2|Orphanet:268817|HP:0011815|ICD10:Q01.8|ICD10:Q01.1|ICD9:742.0|ICD10:Q01.9																		owl:Class
MONDO:0043237	biolink:NamedThing	glossodynia	Painful sensations in the tongue, including a sensation of burning.	mondoexuq1wtf	Glossodynias|soreness of tongue|glossodynia|glossalgia|painful tongue|Glossopyroses|glossopyrosis|Glossalgias											MESH:D005926|GARD:0006518|SCTID:30731004																		owl:Class
MONDO:0006714	biolink:NamedThing	coronary aneurysm	Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.	mondoexuq1wtf	arteriovenous aneurysm of coronary vessels|aneurysmal lesion of coronary artery|coronary artery aneurysm|aneurysm of coronary vessels											DOID:3362|EFO:1000881|GARD:0006200|ICD10:I25.4|ICD9:414.11|MESH:D003323|ICD10:I25.41|SCTID:50570003|HP:0030882|UMLS:C0010051|COHD:316427|MedDRA:10002348																		owl:Class
MONDO:0009137	biolink:NamedThing	dysmyelination with jaundice		mondoexuq1wtf	dysmyelination with jaundice											OMIM:224250|UMLS:C1857143|MESH:C565610																		owl:Class
MONDO:0002783	biolink:NamedThing	Shwartzman phenomenon	Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.	mondoexuq1wtf	Shwartzman reaction (function)|Shwartzman reaction											GARD:0007636|UMLS:C0037018|MESH:D012790|DOID:3825														https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon				owl:Class
MONDO:0020698	biolink:NamedThing	inborn error of biotin metabolism		mondoexuq1wtf																														owl:Class
MONDO:0018199	biolink:NamedThing	new-onset refractory status epilepticus	New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.	mondoexuq1wtf	De novo cryptogenic refractory multifocal febrile status epilepticus|Norse|New onset refractory status epilepticus											ICD10:G41.8|GARD:0012244|Orphanet:363558																		owl:Class
MONDO:0003804	biolink:NamedThing	blood protein disease		mondoexuq1wtf	disorder, blood Protein|Protein disorders, blood|blood protein disorder|disorders, blood Protein|blood Protein disorder|Protein disorder, blood											UMLS:C0005830|MESH:D001796|DOID:620																		owl:Class
MONDO:0020039	biolink:NamedThing	46,XX disorder of sex development induced by androgens excess		mondoexuq1wtf	46,XX DSD induced by androgens excess											UMLS:CN227738|Orphanet:98078																		owl:Class
MONDO:0019036	biolink:NamedThing	amoebiasis due to free-living amoebae	Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.	mondoexuq1wtf												UMLS:CN205519|ICD10:B60.1|GARD:0012650|ICD10:B60.2|Orphanet:68														https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae				owl:Class
MONDO:0007735	biolink:NamedThing	congenital Horner syndrome	Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	mondoexuq1wtf	congenital Horner syndrome|congenital Horner syndrome (disease)|congenital Claude-Bernard-Horner syndrome|HORNER syndrome, congenital		congenital Horner syndrome (disease)									MESH:C564178|OMIM:143000|UMLS:C1840475|Orphanet:91413|ICD10:G90.2|HP:0006837																		owl:Class
MONDO:0013496	biolink:NamedThing	IgA nephropathy, susceptibility to, 2		mondoexuq1wtf	IGAN2|IgA nephropathy, susceptibility to, 2											OMIM:613944																		owl:Class
MONDO:0023642	biolink:NamedThing	Weber syndrome		mondoexuq1wtf	Midbrain stroke syndromes|Weber-Gubler syndrome|Weber Syndrome											SCTID:24654003|ICD9:344.89|UMLS:C0455717|GARD:0008676																		owl:Class
MONDO:0014114	biolink:NamedThing	cardiofaciocutaneous syndrome 4	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.	mondoexuq1wtf	cardiofaciocutaneous syndrome type 4|MAP2K2 cardiofaciocutaneous syndrome|CFC4|cardiofaciocutaneous syndrome caused by mutation in MAP2K2|cardiofaciocutaneous syndrome 4											OMIM:615280|DOID:0111463|UMLS:C3809007																		owl:Class
MONDO:0001249	biolink:NamedThing	trachoma	A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.	mondoexuq1wtf	active stage trachoma|trachoma dubium											ICD10:A71.0|ICD10:A71|COHD:380640|UMLS:C0040592|DOID:11265|ICD10:A71.1|GARD:0010374|ICD9:076.9|MESH:D014141|SCTID:2576002|ICD9:076.0|ICD9:076.1|ICD9:076|ICD10:A71.9														https://rarediseases.info.nih.gov/diseases/10374/trachoma				owl:Class
MONDO:0013835	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.	mondoexuq1wtf	Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7|MDDGA7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7											DOID:0111234|OMIM:614643|UMLS:C3553330																		owl:Class
MONDO:0006900	biolink:NamedThing	perinephritis	Inflammation of the connective and adipose tissues surrounding the kidney.	mondoexuq1wtf	inflammation of perirenal fat|perirenal fat inflammation											UMLS:C0031065|SCTID:111404004|MedDRA:10072058|MESH:D010501|EFO:1001099|DOID:2982																		owl:Class
MONDO:0032830	biolink:NamedThing	snijders blok-fisher syndrome		mondoexuq1wtf	SNIJDERS BLOK-FISHER SYNDROME|SNIBFIS											OMIM:618604																		owl:Class
MONDO:0005922	biolink:NamedThing	pleural tuberculosis	Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.	mondoexuq1wtf	tuberculous pleurisy|pleura tuberculosis|pearly disease|tuberculous pleurisy in primary progressive tuberculosis|tuberculosis of pleura|tuberculous pleuritis											ICD9:010.10|DOID:106|ICD9:010.16|NCIT:C26898|EFO:0007446|ICD9:010.12|ICD9:010.1|SCTID:186172004|ICD9:012.00|ICD9:012.0|MESH:D014396|ICD10:A15.6																		owl:Class
MONDO:0005826	biolink:NamedThing	lipid pneumonia	Pneumonia due to aspiration or inhalation of various oily or fatty substances.	mondoexuq1wtf	exogenous lipoid pneumonia|cholesterol pneumonia|lipoid pneumonitis|lipoidpneumonitis|pneumonia lipid											DOID:3241|SCTID:707449006|ICD10:J69.1|EFO:0007345|UMLS:C0032298|GARD:0006394|MESH:D011017																		owl:Class
MONDO:0001843	biolink:NamedThing	uterus interstitial leiomyoma		mondoexuq1wtf	intramural leiomyoma of uterus											ICD10:D25.1|DOID:13955|COHD:192854|ICD9:218.1|UMLS:C0153994|SCTID:93616000																		owl:Class
MONDO:0014923	biolink:NamedThing	peeling skin syndrome 5	Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.	mondoexuq1wtf	peeling skin syndrome caused by mutation in SERPINB8|peeling skin syndrome type 5|peeling skin syndrome 5|PSS5|SERPINB8 peeling skin syndrome|peeling skin syndrome 5; PSS5											OMIM:617115|UMLS:C4310710																		owl:Class
MONDO:0017051	biolink:NamedThing	classic maple syrup urine disease	Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.	mondoexuq1wtf	classic MSUD|classic branched-chain ketoaciduria|classic BCKD deficiency|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic branched-chain 2-ketoacid dehydrogenase deficiency											Orphanet:268145|ICD10:E71.0																		owl:Class
MONDO:0009804	biolink:NamedThing	osteogenesis imperfecta type 3	Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).	mondoexuq1wtf	Oi3|progressively deforming OI|osteogenesis imperfecta, type III|progressively deforming osteogenesis imperfecta with normal sclera|OI type 3|osteogenesis imperfecta type III|osteogenesis imperfecta, type 3|osteogenesis imperfecta, progressively deforming, with normal sclerae|OI type III|progressive deforming osteogenesis imperfecta|OI, type 3|OI3|osteogenesis imperfecta, progressively deforming with normal sclerae|severe osteogenesis imperfecta											DOID:0110339|UMLS:C0268362|GARD:0008695|OMIM:259420|NCIT:C99002|Orphanet:216812|MESH:C536044|ICD10:Q78.0|SCTID:385483009																		owl:Class
MONDO:0023089	biolink:NamedThing	erythroplakia	A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.	mondoexuq1wtf	erythroplakia											EFO:1001786|UMLS:C0014818|GARD:0006378|NCIT:C3025														https://rarediseases.info.nih.gov/diseases/6378/erythroplakia				owl:Class
MONDO:0019819	biolink:NamedThing	double-orifice mitral valve		mondoexuq1wtf												Orphanet:95474|ICD9:746.89|SCTID:253402005|ICD10:Q23.8																		owl:Class
MONDO:0007036	biolink:NamedThing	Achard syndrome	A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.	mondoexuq1wtf	arachnodactyly, receding lower jaw and joint laxity of hands/feet|Achard syndrome											UMLS:C1332135|MESH:C536012|NCIT:C35809|DOID:6686|GARD:0008176|OMIM:100700														https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome				owl:Class
MONDO:0000583	biolink:NamedThing	immunoglobulin beta deficiency		mondoexuq1wtf	IgB deficiency											DOID:0060026|UMLS:C3502055|MESH:C567200																		owl:Class
MONDO:0007736	biolink:NamedThing	HPA 1 Recognition polymorphism, beta-globin-related		mondoexuq1wtf	HPA I RECOGNITION polymorphism, BETA-globin-RELATED|restriction fragment length polymorphism, sickle cell Anemia-related|HPA I RECOGNITION polymorphism, BETA-globin-related|HPA1											OMIM:143020																		owl:Class
MONDO:0005143	biolink:NamedThing	Pseudomonas aeruginosa PA14 infection	A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.	mondoexuq1wtf												EFO:0001078																		owl:Class
MONDO:0003104	biolink:NamedThing	epicardium cancer	A malignant neoplasm involving the epicardium.	mondoexuq1wtf	malignant tumor of the epicardium|malignant epicardial neoplasm|cancer of epicardium|malignant neoplasm of epicardium|malignant epicardial tumor|epicardial tumor|malignant neoplasm of the epicardium|epicardium cancer|malignant tumor of epicardium|malignant epicardium neoplasm											DOID:4699|NCIT:C4568|UMLS:C2607932																		owl:Class
MONDO:0011247	biolink:NamedThing	jejunal atresia with renal adysplasia		mondoexuq1wtf	jejunal atresia with renal adysplasia											UMLS:C1865209|OMIM:602551|MESH:C537567|GARD:0009985														https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia				owl:Class
MONDO:0019487	biolink:NamedThing	epilepsy with myoclonic absences		mondoexuq1wtf												SCTID:230422001|Orphanet:86911|ICD10:G40.4																		owl:Class
MONDO:0016443	biolink:NamedThing	papular elastorrhexis	An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.	mondoexuq1wtf	eruptive collagenoma|Nevus anelasticus|disseminated nevus anelasticus											Orphanet:228264|NCIT:C4707|UMLS:C0406816|UMLS:C0473584|SCTID:239138008																		owl:Class
MONDO:0020693	biolink:NamedThing	glycogen storage disease due to liver phosphorylase kinase deficiency	A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.	mondoexuq1wtf												ICD10:E74.0|Orphanet:264580																		owl:Class
MONDO:0003633	biolink:NamedThing	malignant mesenchymoma	A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	mondoexuq1wtf	mesenchymoma, malignant (morphologic abnormality)|mesenchymoma, malignant											GARD:0003369|DOID:5758|ICDO:8990/3|NCIT:C4268																		owl:Class
MONDO:0001905	biolink:NamedThing	bicipital tenosynovitis		mondoexuq1wtf												SCTID:41137001|UMLS:C0158304|DOID:14192|ICD9:726.12|COHD:78237																		owl:Class
MONDO:0006897	biolink:NamedThing	periapical granuloma	Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.	mondoexuq1wtf	apical granuloma|periapical granuloma											UMLS:C0031029|SCTID:81407003|MESH:D010484|DOID:4617|MedDRA:10060985|EFO:1001096																		owl:Class
MONDO:0007051	biolink:NamedThing	acromegaloid facial appearance syndrome	Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.	mondoexuq1wtf	acromegaloid facial appearance syndrome|AFA syndrome|thick lips and oral mucosa											OMIM:102150|UMLS:C0796280|Orphanet:965|ICD10:Q87.0|SCTID:720456009|GARD:0000501|MESH:C535655														https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome				owl:Class
MONDO:0003863	biolink:NamedThing	malignant melanocytic neoplasm of the peripheral nerve sheath	A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.	mondoexuq1wtf	melanotic malignant peripheral nerve sheath tumour|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanotic peripheral nerve sheath tumor|melanocytic MPNST|melanotic malignant nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor|malignant melanocytic peripheral nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant melanocytic neoplasm of the peripheral nerve sheath											NCIT:C4748|ICD9:171.9|UMLS:C0474847|SCTID:404039004|DOID:6345																		owl:Class
MONDO:0017758	biolink:NamedThing	disorder of vitamin and non-protein cofactor absorption and transport		mondoexuq1wtf	disorder of vitamin and non-protein cofactor absorption and transport											UMLS:CN227203|Orphanet:309827																		owl:Class
MONDO:0004494	biolink:NamedThing	testicular yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.	mondoexuq1wtf	hepatoid pattern testicular yolk sac tumor|testicular yolk sac tumor, hepatoid pattern											NCIT:C39931|UMLS:C1515306|DOID:8195																		owl:Class
MONDO:0017244	biolink:NamedThing	pseudoxanthomatous diffuse cutaneous mastocytosis	Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.	mondoexuq1wtf	infiltrative small vesicular DCM|Pseudoxanthomatous DCM|infiltrative small vesicular diffuse cutaneous mastocytosis											Orphanet:280794|ICD10:Q82.2																		owl:Class
MONDO:0019315	biolink:NamedThing	diffuse cutaneous mastocytosis	Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).	mondoexuq1wtf	DCM|diffuse cutaneous maculopapulous mastocytosis|diffuse cutaneous mastocytosis											NCIT:C3218|GARD:0012686|UMLS:C0024901|MedDRA:10012812|DOID:3665|Orphanet:79456|ICD10:Q82.2|ICDO:9740/1																		owl:Class
MONDO:0013605	biolink:NamedThing	brittle cornea syndrome 2	Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.	mondoexuq1wtf	brittle cornea syndrome type 2|BCS2|brittle cornea syndrome caused by mutation in PRDM5|PRDM5 brittle cornea syndrome|brittle cornea syndrome 2											OMIM:614170|UMLS:C3280011																		owl:Class
MONDO:0003152	biolink:NamedThing	adult brainstem gliosarcoma		mondoexuq1wtf	adult brain stem gliosarcoma|adult brainstem gliosarcoma											NCIT:C9370|DOID:4812|UMLS:C1377914																		owl:Class
MONDO:0003220	biolink:NamedThing	gallbladder carcinoma	A carcinoma that arises from epithelial cells of the gall bladder	mondoexuq1wtf	carcinoma of gallbladder|cancer of gallbladder|Gall bladder carcinoma (adenocarcinoma)|Gall bladder carcinoma (adeno)|carcinoma gallbladder|carcinoma of the gallbladder|gall bladder carcinoma|gallbladder carcinoma|carcinoma of gall bladder|cancer of the gallbladder|gallbladder cancer											UMLS:C0235782|NCIT:C3844|SCTID:372140005|EFO:1001956|DOID:4948																		owl:Class
MONDO:0010885	biolink:NamedThing	angiokeratoma corporis diffusum with arteriovenous fistulas		mondoexuq1wtf	angiokeratoma corporis diffusum with arteriovenous fistulas											OMIM:600419|UMLS:C1838141|MESH:C563940																		owl:Class
MONDO:0009313	biolink:NamedThing	Grubben-de Cock-Borghgraef syndrome	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	mondoexuq1wtf	severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|developmental delay - hypotonia - extremities hypertrophy|developmental delay-hypotonia-extremities hypertrophy syndrome|Grubben de Cock Borghgraef syndrome|growth retardation, small and puffy hands and feet, and eczema											MESH:C537621|GARD:0002576|Orphanet:2101|OMIM:233810|ICD10:Q87.8|UMLS:C2931551														https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome				owl:Class
MONDO:0010696	biolink:NamedThing	omphalocele, X-linked		mondoexuq1wtf	omphalocele, X-linked											UMLS:C3275625|OMIM:310980																		owl:Class
MONDO:0019015	biolink:NamedThing	omphalocele	Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.	mondoexuq1wtf	omphalocele (disease)|exomphalos|omphalocele|congenital omphalocele|eventration|omphalocoele		omphalocele (disease)									NCIT:C98997|UMLS:C0795690|HP:0001539|ICD9:756.72|MedDRA:10030308|SCTID:18735004|DOID:0060327|ICD10:Q79.2|Orphanet:660																		owl:Class
MONDO:0008087	biolink:NamedThing	hereditary neuropathy with liability to pressure palsies	Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.	mondoexuq1wtf	polyneuropathy, familial recurrent|neuropathy, hereditary, with liability to pressure palsies|familial recurrent polyneuropathy|hereditary neuropathy with liability to pressure palsy|Tomaculous neuropathy|current pressure-sensitive neuropathy|HNPP|heterozygous microdeletion 17p11.2p12|potato-grubbing palsy|tomaculous neuropathy|tulip-bulb digger's palsy											DOID:0060843|MedDRA:10069382|ICD10:G60.0|SCTID:230558006|OMIM:162500|MESH:C536965|GARD:0005221|Orphanet:640																		owl:Class
MONDO:0044753	biolink:NamedThing	lumbar spinal stenosis	A spinal stenosis that involves the lumbar region of vertebral column.	mondoexuq1wtf	lumbar spinal stenosis|spinal stenosis of lumbar region of vertebral column|spinal stenosis of lumbar region|lumbar region of vertebral column spinal stenosis											HP:0004610|SCTID:18347007|UMLS:C0158288|ICD9:724.02																		owl:Class
MONDO:0001798	biolink:NamedThing	hypermobility syndrome		mondoexuq1wtf	benign joint hypermobility											UMLS:C0152093|DOID:13781|COHD:76790|ICD10:M35.7|SCTID:85551004|ICD9:728.5																		owl:Class
MONDO:0018844	biolink:NamedThing	urachal cyst	Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.	mondoexuq1wtf	urachal cyst (disease)|urachal cyst		urachal cyst (disease)									ICD10:Q64.4|MedDRA:10065375|SCTID:17234001|Orphanet:488|NCIT:C85216|HP:0012618|GARD:0005425|MESH:D014496																		owl:Class
MONDO:0019473	biolink:NamedThing	enteropathy-associated T-cell lymphoma	An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.	mondoexuq1wtf	high-grade pleomorphic peripheral T-cell lymphoma|intestinal T-cell lymphoma|enteropathy-type T-cell lymphoma|ETTL|EATCL|EATL|EATL, type I|enteropathy associated T-cell lymphoma|enteropathy-associated T-cell lymphoma, type I					Editor note: consider moving ORDO class to SI subclass						ONCOTREE:EATL|MESH:D058527|NCIT:C4737|ICD10:C86.2|MedDRA:10022703|Orphanet:86880|SCTID:277654008|GARD:0009809|ICD9:202.70|ICDO:9717/3|UMLS:C0456889														https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma				owl:Class
MONDO:0014434	biolink:NamedThing	Bardet-Biedl syndrome 5	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.	mondoexuq1wtf	BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS5|BBS5|Bardet-Biedl syndrome 5|Bardet-Biedl syndrome type 5											ICD10:Q87.89|EFO:0009025|OMIM:615983|DOID:0110127|GARD:0010204|UMLS:C3892039														https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5				owl:Class
MONDO:0002492	biolink:NamedThing	acute kidney failure	Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.	mondoexuq1wtf	kidney failure, acute|AKI|acute kidney injury|acute renal failure|ARF											NCIT:C26808|ICD10:N17|DOID:3021|MESH:D058186																		owl:Class
MONDO:0009601	biolink:NamedThing	metaphyseal dysplasia without hypotrichosis		mondoexuq1wtf	CHHV|cartilage-hair hypoplasia variant, skeletal manifestations only|MDWH|metaphyseal dysplasia without hypotrichosis|cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency											MESH:C563574|UMLS:C1834821|OMIM:250460|GARD:0010622|Orphanet:1838														https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis				owl:Class
MONDO:0020361	biolink:NamedThing	partial cryptophthalmia		mondoexuq1wtf												ICD10:Q11.2|DOID:0111718|Orphanet:98950																		owl:Class
MONDO:0024532	biolink:NamedThing	otofaciocervical syndrome 1	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.	mondoexuq1wtf	OFC|OFC1|EYA1 otofaciocervical syndrome|otofaciocervical syndrome caused by mutation in EYA1|OTFCS|otofaciocervical syndrome 1											UMLS:C3714941|UMLS:CN034490|OMIM:166780																		owl:Class
MONDO:0032650	biolink:NamedThing	neurodegeneration, childhood-onset, with cerebellar atrophy		mondoexuq1wtf	CONDCA|NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY											OMIM:618276																		owl:Class
MONDO:0011573	biolink:NamedThing	psoriasis 7, susceptibility to		mondoexuq1wtf	PSORS7|psoriasis 7, susceptibility to											OMIM:605606|DOID:0111279																		owl:Class
MONDO:0016017	biolink:NamedThing	methimazole embryofetopathy	Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	mondoexuq1wtf	fetal methimazole syndrome|Methimazole antenatal exposure|Methimazole/carbimazole embryofetopathy|MMI/CMZ embryofetopathy|MMI/CMZ embryopathy|Methimazole/carbimazole embryopathy|methimazole embryofetopathy											SCTID:724144006|GARD:0003573|ICD10:Q86.8|UMLS:C4510379|Orphanet:1923														https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure				owl:Class
MONDO:0012396	biolink:NamedThing	exercise-induced hyperinsulinism	Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, familial, 7|hyperinsulinemic hypoglycemia exercise-induced|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinemic hypoglycemia familial 7|monocarboxylate transporter 1 hyperinsulinism|exercise induced hyperinsulinemic hypoglycemia|hyperinsulinism due to monocarboxylate transporter 1 deficiency|HHF7|hyperinsulinemic hypoglycemia, exercise-induced|MCT1 hyperinsulinism|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinism due to SLC16A1 deficiency|EIHI											GARD:0009932|MESH:C538376|DOID:0070214|OMIM:610021|NCIT:C131839|ICD10:E16.1|UMLS:C1864904|Orphanet:165991|SCTID:715830008|UMLS:C1864902																		owl:Class
MONDO:0017789	biolink:NamedThing	idiopathic linear interstitial keratitis	Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.	mondoexuq1wtf												Orphanet:314017|ICD10:H16.3																		owl:Class
MONDO:0008011	biolink:NamedThing	antigen defined by monoclonal antibody T87		mondoexuq1wtf	Msk2|antigen defined by monoclonal antibody T87											OMIM:158040																		owl:Class
MONDO:0009970	biolink:NamedThing	renal tubular dysgenesis of genetic origin	An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.	mondoexuq1wtf	renal tubular dysgenesis|primitive renal tubule syndrome|renal tubular dysgenesis with choanal atresia and athelia|RTD|genetic renal tubular dysgenesis											OMIM:267430|ICD10:Q63.8|Orphanet:97369																		owl:Class
MONDO:0005476	biolink:NamedThing	atrioventricular node disease	A disease involving the atrioventricular node.	mondoexuq1wtf	atrioventricular node disease or disorder|disorder of atrioventricular node|disease or disorder of atrioventricular node|disease of atrioventricular node|atrioventricular node disease											EFO:0005305																		owl:Class
MONDO:0007470	biolink:NamedThing	calvarial doughnut lesions-bone fragility syndrome	This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.	mondoexuq1wtf	familial doughnut lesions of skull|doughnut lesions of skull, familial											SCTID:720598005|ICD10:M85.8|OMIM:126550|UMLS:C1852022|Orphanet:85192|MESH:C565089																		owl:Class
MONDO:0003223	biolink:NamedThing	meninges hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.	mondoexuq1wtf	hemangiopericytoma of the central nervous system|hemangiopericytoma of the meninges|meningeal solitary fibrous tumor/hemangiopericytoma|hemangiopericytoma of meninges|meningeal hemangiopericytoma|meninges hemangiopericytoma|meningeal cluster spindle cell tumor|meningeal cluster hemangiopericytoma											DOID:4957|UMLS:C0349622|ONCOTREE:HPCCNS|NCIT:C4660|SCTID:277522009																		owl:Class
MONDO:0100418	biolink:NamedThing	acute myeloid leukemia, KIT exon 17 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)	mondoexuq1wtf	AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation|AML, c-KIT Exon 17 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation|AML, KIT exon 17 mutation|AML, CD117 Exon 17 Mutation																													owl:Class
MONDO:0001091	biolink:NamedThing	lipoma of colon	A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.	mondoexuq1wtf	lipoma of the colon|colon lipoma|lipoma of colon|colonic lipoma											NCIT:C5493|UMLS:C0940607|DOID:10655																		owl:Class
MONDO:0004132	biolink:NamedThing	anal canal squamous cell carcinoma	A squamous cell carcinoma arising from the mucosa of the anal canal.	mondoexuq1wtf	anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal											DOID:7177|UMLS:C1332262|ICD10:C21.1|NCIT:C7469|Orphanet:424019																		owl:Class
MONDO:0006947	biolink:NamedThing	renovascular hypertension	High blood pressure secondary to renal artery stenosis.	mondoexuq1wtf	renovascular hypertension (disease)|renovascular hypertension		renovascular hypertension (disease)									ICD10:I15.0|UMLS:C0020545|HP:0100817|COHD:317895|ICD9:405.91|EFO:1001153|SCTID:123799005|DOID:1591																		owl:Class
MONDO:0015049	biolink:NamedThing	solitary necrotic nodule of the liver	Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.	mondoexuq1wtf	hepatic solitary necrotic nodule											UMLS:CN197336|SCTID:447058001|ICD10:D13.4|Orphanet:100035																		owl:Class
MONDO:0007655	biolink:NamedThing	fissured tongue		mondoexuq1wtf	ectopic geographic tongue|congenital plicated tongue|geographic tongue and fissured tongue|tongue, fissured|glossitis, benign migratory|erythema migrans|fissure of tongue, congenital|scrotal tongue|geographic and fissured tongue|Furrowed tongue|lingua plicata|congenital fissure of tongue|fissure of tongue|plicated tongue											MESH:D014063|ICD9:750.13|GARD:0006493|ICD9:529.5|OMIM:137400|DOID:11514|COHD:441896|ICD10:K14.5|UMLS:C0040412|UMLS:C1842051|SCTID:52368004																		owl:Class
MONDO:0010120	biolink:NamedThing	thrombocytopenia 3		mondoexuq1wtf	thrombocytopenia 3|thrombocytopenia, autosomal recessive, 3|THC3											OMIM:273900|UMLS:C2678311|MESH:C567487																		owl:Class
MONDO:0021578	biolink:NamedThing	sternal neoplasm	A benign or malignant neoplasm that affects the sternum.	mondoexuq1wtf	sternal tumor|tumor of the sternum|neoplasm of the sternum|tumor of sternum|sternum neoplasm|neoplasm of sternum|sternum neoplasm (disease)|neoplasm of sternum (disorder)|sternal neoplasm|neoplasm of sternum (disease)|sternum tumor											NCIT:C6730|ICD9:239.2|SCTID:126559003|UMLS:C1290244																		owl:Class
MONDO:0008863	biolink:NamedThing	sitosterolemia	Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.	mondoexuq1wtf	retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|STSL|phytosterolemia|sitosterolemia|macrothrombocytopenia/stomatocytosis, Mediterranean|plant sterol storage disease											OMIMPS:210250|ICD10:E78.0|Orphanet:101022|MESH:C537345|NCIT:C125694|GARD:0007653|SCTID:238104009|DOID:0090019|OMIMPS:215250|MedDRA:10063985|UMLS:C0342907|Orphanet:2882														https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia				owl:Class
MONDO:0011198	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Missouri type	Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.	mondoexuq1wtf	Missouri type of spondyloepimetaphyseal dysplasia|metaphyseal anadysplasia 1|spondyloepimetaphyseal dysplasia Missouri type|SEMD, Missouri type|SEMD type 2|SEMD Missouri type|spondyloepimetaphyseal dysplasia type 2|spondyloepimetaphyseal dysplasia, Missouri type											ICD10:Q77.7|DOID:0080030|Orphanet:93356|GARD:0010618|OMIM:602111|SCTID:719171005														https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type				owl:Class
MONDO:0010164	biolink:NamedThing	phocomelia, Schinzel type	Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.	mondoexuq1wtf	Al-Awadi-Raas-Rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|AARRS|ulna and fibula absence of with severe limb deficiency|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|Al-Awadi/Raas-Rothschild syndrome|ulna and fibula, absence of, with severe limb deficiency|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|Teebi Naguib Al Awadi syndrome|absence of ulna and fibula with severe limb deficiency|Schinzel phocomelia syndrome|Al Awadi Teebi Farag syndrome|Al Awadi-Raas-Rothschild syndrome											SCTID:715522000|MESH:C535612|ICD10:Q87.2|GARD:0009212|OMIM:276820|GARD:0005124|Orphanet:2879																		owl:Class
MONDO:0030927	biolink:NamedThing	myofibrillar myopathy 11		mondoexuq1wtf	MFM11|myopathy, congenital, with eccentric cores|myofibrillar myopathy 11											OMIM:619178																		owl:Class
MONDO:0003747	biolink:NamedThing	telangiectatic glomangioma	A glomus tumor characterized by huge vascular channel formations.	mondoexuq1wtf	telangiectatic glomangioma											DOID:6048|UMLS:C1336699|NCIT:C5345																		owl:Class
MONDO:0013650	biolink:NamedThing	hypotrichosis 10	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.	mondoexuq1wtf	hypt10|hypotrichosis 10|HYPT10|hypotrichosis type 10											OMIM:614238|UMLS:C3280253|DOID:0110707																		owl:Class
MONDO:0013744	biolink:NamedThing	cataract 37	A cataract that has material basis in variation in the region 12q24.2-q24.3.	mondoexuq1wtf	cataract type 37|CTRCT37|cataract 37|CCA5|congenital cataract cerulean type 5|cataract, congenital, cerulean type, 5											ICD10:Q12.0|UMLS:C3280758|OMIM:614422|DOID:0110252																		owl:Class
MONDO:0006612	biolink:NamedThing	steroid lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.	mondoexuq1wtf	steroid lipomatosis											UMLS:C1336506|EFO:1000769|DOID:3925|NCIT:C27487																		owl:Class
MONDO:0007178	biolink:NamedThing	aurocephalosyndactyly		mondoexuq1wtf	Auralcephalosyndactyly|aurocephalosyndactyly|aural cephalosyndactyly|Kurczynski-Casperson syndrome											GARD:0009218|MESH:C566235|OMIM:109050|UMLS:C1862380|Orphanet:1219																		owl:Class
MONDO:0008632	biolink:NamedThing	urticaria, aquagenic	Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.	mondoexuq1wtf	aquagenic urticaria|urticaria, aquagenic											MESH:C562481|ICD9:708.8|OMIM:191850|SCTID:89870006|UMLS:C0263334|GARD:0010901														https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria				owl:Class
MONDO:0008617	biolink:NamedThing	inflammatory bowel disease 11	An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.	mondoexuq1wtf	inflammatory bowel disease 11|IBD11|inflammatory bowel disease type 11											UMLS:C2674051|OMIM:191390|DOID:0110894|MESH:C567154																		owl:Class
MONDO:0002382	biolink:NamedThing	benign mesenchymoma	A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	mondoexuq1wtf	mesenchymal tumor, benign|mesenchymoma, benign|mesenchymoma, benign (morphologic abnormality)											ICDO:8990/0|NCIT:C4267|UMLS:C0334491|DOID:2667																		owl:Class
MONDO:0013095	biolink:NamedThing	glioma susceptibility 6		mondoexuq1wtf	GLM6|glioma susceptibility 6											OMIM:613031|UMLS:C2751639																		owl:Class
MONDO:0032828	biolink:NamedThing	spastic tetraplegia and axial hypotonia, progressive		mondoexuq1wtf	STAHP|Sod1 Deficiency, Autosomal Recessive|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE											OMIM:618598																		owl:Class
MONDO:0010777	biolink:NamedThing	cardiomyopathy, infantile hypertrophic		mondoexuq1wtf												DOID:0111753|UMLS:C2748884|OMIM:500006																		owl:Class
MONDO:0003631	biolink:NamedThing	cervical serous adenocarcinoma	A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.	mondoexuq1wtf	cervical serous adenocarcinoma											UMLS:C1516431|DOID:5752|NCIT:C40201																		owl:Class
MONDO:0016046	biolink:NamedThing	familial clubfoot with or without associated lower limb anomalies	Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.	mondoexuq1wtf												ICD10:Q66.8|Orphanet:199315|UMLS:CN200725																		owl:Class
MONDO:0018847	biolink:NamedThing	omphalomesenteric cyst		mondoexuq1wtf												Orphanet:490|GARD:0004081|SCTID:80880002|ICD10:Q43.0														https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst				owl:Class
MONDO:0022599	biolink:NamedThing	brachydactyly anonychia		mondoexuq1wtf												GARD:0000962														https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia				owl:Class
MONDO:0014314	biolink:NamedThing	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome		mondoexuq1wtf	SAVA|sacral agenesis with vertebral anomalies											ICD10:Q87.5|OMIM:615709|UMLS:C3810343|Orphanet:397927																		owl:Class
MONDO:0001163	biolink:NamedThing	paranoid personality disorder	A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.	mondoexuq1wtf												ICD10:F60.0|ICD9:301.0|MESH:D010260|COHD:440691|SCTID:13601005|NCIT:C92630|DOID:10938																		owl:Class
MONDO:0018840	biolink:NamedThing	isolated congenital hepatic fibrosis	A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.	mondoexuq1wtf	nonsyndromic congenital hepatic fibrosis|congenital fibrose liver|isolated CHF|congenital hepatic fibrosis											Orphanet:485426|UMLS:C0009714|SCTID:79607001|MESH:C562378|GARD:0006168|NCIT:C97071|ICD9:777.8														https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis				owl:Class
MONDO:0004285	biolink:NamedThing	pancreatic intraductal papillary-mucinous carcinoma	A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.	mondoexuq1wtf	intraductal papillary-colloid carcinoma of the pancreas|intraductal papillary-colloidal carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of pancreas|intraductal papillary mucinous carcinoma of pancreas|intraductal papillary-mucinous carcinoma of the pancreas|pancreatic intraductal papillary-colloidal carcinoma|intraductal papillary-colloid carcinoma of pancreas|intraductal papillary-colloidal carcinoma of pancreas|pancreatic intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous carcinoma|pancreatic intraductal papillary-colloid carcinoma											UMLS:C1335304|DOID:7574|ICD10:C25.3|Orphanet:424058|NCIT:C5725																		owl:Class
MONDO:0009360	biolink:NamedThing	hydrocephalus, nonsyndromic, autosomal recessive 1	Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.	mondoexuq1wtf	congenital hydrocephalus caused by mutation in CCDC88C|HYC1|ventriculomegaly|CCDC88C congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive type 1|hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1											OMIM:236600|GARD:0006682|UMLS:C3887608																		owl:Class
MONDO:0001819	biolink:NamedThing	multiple cranial nerve palsy		mondoexuq1wtf	multiple cranial nerve palsies											COHD:437543|DOID:13866|ICD9:352.6|UMLS:C0154733|ICD10:G52.7|SCTID:78152008																		owl:Class
MONDO:0015394	biolink:NamedThing	nasal encephalocele	Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.	mondoexuq1wtf												SCTID:65455002|ICD10:Q01.1|Orphanet:141118																		owl:Class
MONDO:0016828	biolink:NamedThing	autosomal recessive sideroblastic anemia	Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	mondoexuq1wtf	congenital sideroblastic anemia|sideroblastic anemia, autosomal recessive|ARSA											ICD10:D64.0|SCTID:717050005|UMLS:C4274077|Orphanet:260305																		owl:Class
MONDO:0007676	biolink:NamedThing	glutathione transferase activity toward trans-stilbene oxide		mondoexuq1wtf	glutathione transferase activity toward trans-stilbene oxide|trans-stilbene oxide glutathione transferase activity											OMIM:138340																		owl:Class
MONDO:0024455	biolink:NamedThing	autosomal dominant Robinow syndrome 1	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.	mondoexuq1wtf	Robinow dwarfism|DRS1|WNT5A autosomal dominant Robinow syndrome|acral dysostosis with Facial and genital abnormalities|autosomal dominant Robinow syndrome caused by mutation in WNT5A|Robinow syndrome, autosomal dominant 1|fetal face syndrome											DOID:0060766|OMIM:180700																		owl:Class
MONDO:0021927	biolink:NamedThing	arthrogryposis epileptic seizures migrational brain disorder		mondoexuq1wtf	arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder											UMLS:C2931495|GARD:0000781|MESH:C537442														https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder				owl:Class
MONDO:0012353	biolink:NamedThing	erythrocytosis, familial, 3	Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.	mondoexuq1wtf	erythrocytosis, familial, type 3|EGLN1 familial polycythemia|ECYT3|erythrocytosis, familial, 3|familial polycythemia caused by mutation in EGLN1											OMIM:609820|UMLS:C1853286|DOID:0080338|MESH:C565221																		owl:Class
MONDO:0000909	biolink:NamedThing	Bartter disease type 4B	A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.	mondoexuq1wtf	Bartter syndrome, type 4B|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|BARTS4B|neonatal Bartter syndrome type 4B with sensorineural deafness|Bartter syndrome, type 4b, digenic											UMLS:C2751312|OMIM:613090|ICD10:E26.8|DOID:0110146																		owl:Class
MONDO:0002403	biolink:NamedThing	synovium cancer	A cancer that involves the layer of synovial tissue.	mondoexuq1wtf	malignant tumor of synovium|malignant neoplasm of the synovium|malignant synovial neoplasm|malignant neoplasm of synovium|cancer of layer of synovial tissue|malignant layer of synovial tissue neoplasm|malignant neoplasm of layer of synovial tissue|malignant neoplasm of synovial membrane of synovial joint|synovial membrane of synovial joint cancer|malignant synovial membrane of synovial joint neoplasm|cancer of synovial membrane of synovial joint|malignant tumor of the synovium|malignant synovial tumor|layer of synovial tissue cancer											DOID:2706|UMLS:C1334624|NCIT:C6531																		owl:Class
MONDO:0008886	biolink:NamedThing	Sabinas brittle hair syndrome		mondoexuq1wtf	brittle hair syndrome, Sabinas type|Sabinas brittle hair syndrome|Sabinas syndrome|brittle hair and mental Deficit											OMIM:211390|MESH:C536320|UMLS:C0796271|GARD:0000313|Orphanet:3123														https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome				owl:Class
MONDO:0012346	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 4		mondoexuq1wtf	generalized epilepsy with febrile seizures plus, type 4|Gefs+, type 4|GEFSP4											MESH:C565227|OMIM:609800|DOID:0111293|UMLS:C1853345																		owl:Class
MONDO:0010811	biolink:NamedThing	benign prostatic hyperplasia	A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.	mondoexuq1wtf	benign prostatic hyperplasia|benign prostatic hyperplasia (disease)|benign prostatic hyperplasia - BPH|prostate hypertrophy|benign prostate hyperplasia|benign prostatic Hypertrophy|prostatic hyperplasia, benign|benign hyperplasia of the prostate|BPH|benign prostatic hypertrophy|prostatic hypertrophy|benign hyperplasia of prostate		benign prostatic hyperplasia (disease)								MONDO:0001201	ICD9:600.0|ICD9:600|HP:0008711|ICD9:600.20|DOID:11132|EFO:0000284|OMIM:600082|UMLS:C1704272|NCIT:C2897|COHD:198803|SCTID:266569009|MESH:D011470																		owl:Class
MONDO:0002981	biolink:NamedThing	peripheral primitive neuroectodermal tumor of bone	A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.	mondoexuq1wtf	peripheral neuroectodermal tumor of bone|bone tissue peripheral primitive neuroectodermal tumor|peripheral neuroectodermal tumor of the bone|bone peripheral neuroepithelioma|peripheral neuroepithelioma of bone|peripheral primitive neuroectodermal tumor of bone|peripheral primitive neuroectodermal tumor of bone tissue|peripheral neuroepithelioma of the bone|osseous peripheral neuroepithelioma											UMLS:C0855009|DOID:4388|NCIT:C8776																		owl:Class
MONDO:0007509	biolink:NamedThing	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		mondoexuq1wtf	ectodermal dysplasia hypohidrotic autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|ectodermal dysplasia, hypohidrotic, autosomal dominant|ECTD10A											DOID:0111663|GARD:0002048|UMLS:C3888065|OMIM:129490																		owl:Class
MONDO:0032629	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 25		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25|MC1DN25											OMIM:618246																		owl:Class
MONDO:0019474	biolink:NamedThing	hepatosplenic T-cell lymphoma	An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.	mondoexuq1wtf	HSTCL|Hepatosplenic gamma/Delta T-cell lymphoma											NCIT:C8459|SCTID:445406001|ICD10:C86.1|ONCOTREE:HSTCL|ICDO:9716/3|MedDRA:10066957|ICD9:202.80|UMLS:C1333984|Orphanet:86882																		owl:Class
MONDO:0012930	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency		mondoexuq1wtf	SCN4|Dursun syndrome|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|neutropenia, severe congenital, 4, autosomal recessive|pulmonary arterial hypertension, leukopenia, and atrial septal defect|severe congenital neutropenia type 4											OMIM:612541|ICD10:D70|UMLS:C2675526|Orphanet:331176																		owl:Class
MONDO:0021394	biolink:NamedThing	polyp of vagina	A polyp that involves the vagina.	mondoexuq1wtf	vagina polyp|polyp, vaginal, benign|vaginal polyp|polyp of the vagina											NCIT:C3664|ICD10:N84.2|SCTID:29609001|ICD9:623.7|UMLS:C0156390																		owl:Class
MONDO:0000884	biolink:NamedThing	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities		mondoexuq1wtf						Editor note: check relation to MONDO:0007844						DOID:0080167																		owl:Class
MONDO:0021002	biolink:NamedThing	syndactyly	A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.	mondoexuq1wtf	syndactyly (disease)		syndactyly (disease)									ICD10:Q70.9|ICD10:Q70.1|HP:0001159|ICD10:Q70.0|MedDRA:10042778|ICD10:Q70.2|ICD10:Q70.4|ICD9:755.1|DOID:11193|ICD10:Q70|ICD10:Q70.3																		owl:Class
MONDO:0015057	biolink:NamedThing	renin-angiotensin-aldosterone system-blocker-induced angioedema	Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema|RAE|Raas-blocker-induced angioedema|AEACEI|reactive angioendotheliomatosis|susceptibility to angioedema induced by ace inhibitors|angioedema induced by ACE inhibitors, susceptibility to|Raas-blocker-induced angioneurotic edema					Editor note: consider separate class for OMIM for predisposition						GARD:0009445|ICD10:T78.3|Orphanet:100057|MESH:C535293																		owl:Class
MONDO:0013408	biolink:NamedThing	FADD-related immunodeficiency	A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.	mondoexuq1wtf	infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations|Fadd deficiency											UMLS:C4509831|SCTID:723334006|UMLS:C3151062|OMIM:613759|Orphanet:306550																		owl:Class
MONDO:0014851	biolink:NamedThing	hypercalcemia, infantile 2	Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene.	mondoexuq1wtf	SLC34A1 autosomal recessive infantile hypercalcemia|hypercalcemia, infantile, type 2|hypercalcemia, infantile, 2|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1|HCINF2											UMLS:C4310473|UMLS:CN774236|OMIM:616963|UMLS:CN262351|UMLS:CN847585																		owl:Class
MONDO:0010289	biolink:NamedThing	intellectual disability, X-linked 72		mondoexuq1wtf	intellectual disability, X-linked type 72|MRX72|intellectual disability, X-linked 72|mental retardation, X-linked 72|mental retardation, X-linked type 72											OMIM:300271|MESH:C564547|UMLS:C1846038																		owl:Class
MONDO:0013672	biolink:NamedThing	chromosome 15q25 deletion syndrome		mondoexuq1wtf	chromosome 15q25 deletion syndrome											UMLS:C3280355|OMIM:614294|DOID:0060396																		owl:Class
MONDO:0013359	biolink:NamedThing	familial hyperaldosteronism type III	Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.	mondoexuq1wtf	FH3|hyperaldosteronism, familial, type 3|FH-III|hyperaldosteronism, familial, type III|FH III|FH 3|familial hyperaldosteronism type 3|HALD3											SCTID:703234002|UMLS:C3150933|Orphanet:251274|OMIM:613677|ICD10:E26.0|GARD:0012362|UMLS:C3838758																		owl:Class
MONDO:0016747	biolink:NamedThing	primary melanoma of the central nervous system	A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.	mondoexuq1wtf	central nervous system melanoma (disease)|melanoma of CNS|primary CNS melanoma|CNS melanoma|primary melanoma of the CNS|malignant melanoma of meninges|melanoma of the Central nervous system|melanoma of the CNS|melanoma of central nervous system|central nervous system melanoma|melanoma (disease) of central nervous system|primary meningeal melanoma|Central nervous system melanoma											Orphanet:252050|UMLS:C0349626|GARD:0012016|UMLS:CN201994|NCIT:C5505|ONCOTREE:PCNSM														https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system				owl:Class
MONDO:0016744	biolink:NamedThing	primary melanocytic tumor of central nervous system		mondoexuq1wtf	primary melanocytic lesion of central nervous system|primary melanocytic lesion of CNS|primary melanocytic tumor of CNS											Orphanet:252028|UMLS:CN201991																		owl:Class
MONDO:0020467	biolink:NamedThing	mosaic monosomy X		mondoexuq1wtf	Mosaic Turner syndrome|XX/XO|Mosaic monosomy type X					Editor note: add qualifier for mosaicism						SCTID:710010005|ICD10:Q96.3|ICD10:Q96.4|Orphanet:99228|UMLS:C4040907|UMLS:CN776903																		owl:Class
MONDO:0015295	biolink:NamedThing	intractable diarrhea-choanal atresia-eye anomalies syndrome	Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.	mondoexuq1wtf												Orphanet:137622|ICD10:Q87.8|UMLS:CN226653																		owl:Class
MONDO:0012415	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.	mondoexuq1wtf	progressive external ophthalmoplegia, autosomal dominant 4|PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4											MESH:C566437|DOID:0111525|OMIM:610131|UMLS:C1864668																		owl:Class
MONDO:0027048	biolink:NamedThing	deafness, Y-linked 2		mondoexuq1wtf	DFNY2											DOID:0111758|OMIM:400047																		owl:Class
MONDO:0006583	biolink:NamedThing	necrobiosis lipoidica	Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.	mondoexuq1wtf	necrobiosis lipoidica diabeticorum (formerly)|necrobiosis lipoidica											GARD:0013040|Orphanet:542592|SCTID:9418005|Wikipedia:Necrobiosis_lipoidica|DOID:3486|MESH:D009335|EFO:1000738|UMLS:C0027538|NCIT:C34840|ICD10:L92.1														https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica				owl:Class
MONDO:0054761	biolink:NamedThing	microcephaly 20, primary, autosomal recessive		mondoexuq1wtf	microcephaly 20, PRIMARY, autosomal recessive|MCPH20											OMIM:617914																		owl:Class
MONDO:0012483	biolink:NamedThing	cone-rod dystrophy 11	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.	mondoexuq1wtf	cone-rod dystrophy type 11|cone-rod dystrophy caused by mutation in RAX2|CORD11|cone-rod dystrophy 11|RAX2 cone-rod dystrophy											MESH:C563671|OMIM:610381|DOID:0111018|UMLS:C1835865																		owl:Class
MONDO:0001049	biolink:NamedThing	Dressler syndrome	A pericarditis characterized by inflammation, occurring after injury, located in pericardium.	mondoexuq1wtf	Dressler syndrome|Dressler's syndrome|postmyocardial infarction syndrome					Editor note: TODO						COHD:319038|SCTID:66189004|DOID:10507|UMLS:C0152107|ICD10:I24.1|ICD9:411.0																		owl:Class
MONDO:0010997	biolink:NamedThing	supranuclear palsy, progressive, 1	Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.	mondoexuq1wtf	classic progressive supranuclear palsy syndrome|supranuclear palsy, progressive, 1|PSNP1|Richardson syndrome|PSP|Steele-Richardson-Olszewski disease|Steele-Richardson-Olszewski syndrome|classic PSP syndrome|supranuclear palsy, progressive, type 1											OMIM:601104|Orphanet:240071|ICD10:G23.1|UMLS:CN201679																		owl:Class
MONDO:0012905	biolink:NamedThing	hypomyelinating leukodystrophy 6	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	mondoexuq1wtf	leukodystrophy, hypomyelinating, type 6|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|HLD6|hypomyelination with atrophy of basal ganglia and cerebellum|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|hypomyelinating leukodystrophy type 6|HABC|H-ABC|leukodystrophy, hypomyelinating, 6											ICD10:E75.2|OMIM:612438|MESH:C567314|Orphanet:139441|UMLS:C2676244|GARD:0010917|DOID:0060798																		owl:Class
MONDO:0002860	biolink:NamedThing	testis rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.	mondoexuq1wtf	rhabdomyosarcoma of testis|rhabdomyosarcoma (disease) of testis|testicular rhabdomyosarcoma|testis rhabdomyosarcoma (disease)|rhabdomyosarcoma of the testis											UMLS:C1336726|DOID:4061|NCIT:C6378																		owl:Class
MONDO:0002861	biolink:NamedThing	testis sarcoma	A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.	mondoexuq1wtf	testis sarcoma|sarcoma of testis|sarcoma of the testis|testicular sarcoma											NCIT:C6359|DOID:4062|UMLS:C1336727																		owl:Class
MONDO:0018168	biolink:NamedThing	primary non-essential cutis verticis gyrata		mondoexuq1wtf												ICD10:Q82.8|Orphanet:357225|UMLS:CN204616																		owl:Class
MONDO:0006901	biolink:NamedThing	peritoneal neoplasm	A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	mondoexuq1wtf	neoplasm of peritoneum|tumor of peritoneum|peritoneum neoplasm|peritoneum tumor|peritoneal neoplasm|peritoneum neoplasm (disease)											SCTID:126865007|EFO:1001100|MESH:D010534|MedDRA:10061344|NCIT:C3322																		owl:Class
MONDO:0018326	biolink:NamedThing	transient neonatal myasthenia gravis	Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.	mondoexuq1wtf	transient neonatal autoimmune myasthenia gravis|neonatal myasthenia gravis|NMG|transient neonatal acquired myasthenia											UMLS:C0495465|NCIT:C117308|Orphanet:391504|ICD10:P94.0																		owl:Class
MONDO:0016445	biolink:NamedThing	familial anetoderma	Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.	mondoexuq1wtf	hereditary anetoderma|hereditary macular atrophy											UMLS:CN226934|UMLS:C4518793|Orphanet:228277|ICD10:L90.8|SCTID:733467001																		owl:Class
MONDO:0013253	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 3	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.	mondoexuq1wtf	susceptibility to familial breast-ovarian cancer 3|ovarian cancer, familial, susceptibility to, 3|RAD51C hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, 3|breast-ovarian cancer, familial, susceptibility to, type 3|Rad51C hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 3|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|BROVCA3|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C											OMIM:613399																		owl:Class
MONDO:0014772	biolink:NamedThing	orofacial cleft 15	Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.	mondoexuq1wtf	orofacial cleft 15|OFC15|cleft lip/palate caused by mutation in DLX4|orofacial cleft type 15|DLX4 cleft lip/palate											DOID:0080408|OMIM:616788																		owl:Class
MONDO:0060457	biolink:NamedThing	autoinflammation with arthritis and dyskeratosis		mondoexuq1wtf	AUTOINFLAMMATION with arthritis and dyskeratosis|AIADK											OMIM:617388																		owl:Class
MONDO:0025419	biolink:NamedThing	furunculosis	A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.	mondoexuq1wtf	Furunculoses|Furuncles|boils|furuncle											NCIT:C34629|MESH:D005667																		owl:Class
MONDO:0024934	biolink:NamedThing	fish disease	Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).	mondoexuq1wtf	fish disease|diseases, fish|disease, fish											UMLS:C0016154|MESH:D005393																		owl:Class
MONDO:0021739	biolink:NamedThing	prurigo	A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)	mondoexuq1wtf	pruritic rash|Prurigo|prurigo|Itchy skin eruption|itchy skin eruption|Pruritic rash											ICD9:698.8|ICD9:698.2|SCTID:64144002|MESH:D011536|UMLS:C0033771																		owl:Class
MONDO:0006953	biolink:NamedThing	Rh isoimmunization	The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.	mondoexuq1wtf	Rh incompatibility affecting management of mother											UMLS:C0035404|MedDRA:10039016|SCTID:44795003|EFO:1001159|DOID:4175																		owl:Class
MONDO:0002901	biolink:NamedThing	blood group incompatibility		mondoexuq1wtf						May be obsoleted as it represents a finding						CSP:0440-3703|UMLS:C0005806|DOID:4176																		owl:Class
MONDO:0017726	biolink:NamedThing	Tay-Sachs disease, b variant, adult form		mondoexuq1wtf	GM2 gangliosidosis, B variant, adult form|hexosaminidase A deficiency, adult form											ICD10:E75.0|UMLS:C1848914|Orphanet:309192																		owl:Class
MONDO:0015536	biolink:NamedThing	papular xanthoma	Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.	mondoexuq1wtf												Orphanet:158008|SCTID:765221009|ICD10:D76.3|UMLS:CN199692																		owl:Class
MONDO:0019320	biolink:NamedThing	acanthokeratolytic verrucous nevus		mondoexuq1wtf	verrucous nevus acanthokeratolytic											Orphanet:79468|GARD:0005485|UMLS:CN205975|ICD10:Q82.5														https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic				owl:Class
MONDO:0011080	biolink:NamedThing	progressive deafness with stapes fixation	Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	mondoexuq1wtf	deafness, progressive, with stapes fixation|Thies Reis syndrome|Thies-Reis syndrome|Stapedo-vestibular ankylosis											OMIM:601449|UMLS:C1832354|SCTID:715529009|MESH:C563316|ICD10:H74.3|Orphanet:3235|GARD:0005170														https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation				owl:Class
MONDO:0008711	biolink:NamedThing	Goodman syndrome	Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	mondoexuq1wtf	Goodman syndrome|ACPS4|acrocephalopolysyndactyly type IV|acrocephalopolysyndactyly type 4|Goodman camptodactyly|ACPS 4											MESH:C537287|SCTID:720600004|ICD10:Q87.0|GARD:0002549|OMIM:201020|Orphanet:65798														https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome				owl:Class
MONDO:0010416	biolink:NamedThing	deafness, cataract, retinitis pigmentosa, and sperm abnormalities		mondoexuq1wtf	deafness, cataract, retinitis pigmentosa, and sperm abnormalities											OMIM:300719|MESH:C567467|UMLS:C2678011																		owl:Class
MONDO:0014627	biolink:NamedThing	dystonia 27	Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.	mondoexuq1wtf	DYT27|COL6A3 dystonic disorder|primary dystonia, DYT27 type|dystonia 27|dystonic disorder caused by mutation in COL6A3|dystonia type 27											ICD10:G24.1|DOID:0090050|UMLS:C4225336|Orphanet:464440|OMIM:616411																		owl:Class
MONDO:0017088	biolink:NamedThing	isolated amyelia		mondoexuq1wtf												Orphanet:268868|ICD10:Q06.0																		owl:Class
MONDO:0011258	biolink:NamedThing	branchiootic syndrome 1	Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.	mondoexuq1wtf	branchiootic dysplasia|branchiootic syndrome 1|bo syndrome 1|BOS1|EYA1 branchiootic syndrome|anterior segment anomalies with or without cataract|branchiootic syndrome caused by mutation in EYA1|branchiootic syndrome type 1											UMLS:C1865143|OMIM:602588																		owl:Class
MONDO:0012645	biolink:NamedThing	glaucoma 1, open angle, N		mondoexuq1wtf	glaucoma 1, open angle, N|JOAG1N|GLC1N											UMLS:C1969812|OMIM:611274|MESH:C566977																		owl:Class
MONDO:0002064	biolink:NamedThing	breast angiomatosis	A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.	mondoexuq1wtf												DOID:1637|NCIT:C40381|UMLS:C1511284																		owl:Class
MONDO:0024252	biolink:NamedThing	global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		mondoexuq1wtf												Orphanet:488613																		owl:Class
MONDO:0003564	biolink:NamedThing	localized pulmonary fibrosis	Replacement of the lung tissue by connective tissue in a specific area of the lung.	mondoexuq1wtf												NCIT:C27103|SCTID:233726000|DOID:5642|UMLS:C0340127																		owl:Class
MONDO:0008691	biolink:NamedThing	zinc, elevated plasma		mondoexuq1wtf	hyperzincemia and hypercalprotectinemia|albumin binding of zinc, elevated|zinc, elevated plasma|hyperzincemia, familial Dysalbuminemic											OMIM:194470																		owl:Class
MONDO:0004468	biolink:NamedThing	anal canal Paget disease	Paget disease involving the squamous epithelium of the anal canal.	mondoexuq1wtf	anal canal Paget disease|Paget's disease of the anal canal|anal canal Paget's disease|Paget disease of the anal canal|Paget's disease of anal canal|anal canal mammary Paget's disease											SCTID:236811000119101|DOID:8119|UMLS:C1332261|NCIT:C7477																		owl:Class
MONDO:0014635	biolink:NamedThing	microphthalmia, isolated, with coloboma 10	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.	mondoexuq1wtf	RBP4 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 10|microphthalmia, isolated, with coloboma caused by mutation in RBP4|MCOPCB10|microphthalmia, isolated, with coloboma 10											OMIM:616428|UMLS:C4225330																		owl:Class
MONDO:0006652	biolink:NamedThing	anterolateral myocardial infarction	Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.	mondoexuq1wtf	anterolateral myocardial infarction|infarction, anterolateral myocardial|myocardial infarctions, anteroseptal|anteroseptal myocardial infarction|infarctions, anteroseptal myocardial|anteroseptal myocardial infarctions|infarctions, anterolateral myocardial|acute anterior wall myocardial infarction|myocardial infarction, anterolateral|myocardial infarction, anteroseptal|myocardial infarctions, anterolateral|infarction, anteroseptal myocardial|anterolateral myocardial infarctions|myocardial infarction, anterior wall					Editor note: todo - create uberon class						DOID:5845|MedDRA:10068109|UMLS:C0262564|MESH:D056988|EFO:1000812																		owl:Class
MONDO:0033532	biolink:NamedThing	Suleiman-El-Hattab syndrome		mondoexuq1wtf	SULEHS|SULEIMAN-EL-HATTAB SYNDROME											OMIM:618950																		owl:Class
MONDO:0011999	biolink:NamedThing	otosclerosis 3		mondoexuq1wtf	OTSC3|otosclerosis 3											OMIM:608244|UMLS:C1842353|MESH:C564268																		owl:Class
MONDO:0009591	biolink:NamedThing	metachromatic leukodystrophy, juvenile form	Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.	mondoexuq1wtf	cerebroside sulfatase deficiency|metachromatic leukodystrophy, adult|metachromatic leukoencephalopathy|arylsulfatase A deficiency|MLD|leukodystrophy metachromatic|Mld|pseudoarylsulfatase A deficiency|metachromatic leukodystrophy, late infantile|MLD, juvenile form|metachromatic leukodystrophy, juvenile|cerebral sclerosis diffuse metachromatic form|arylsulfatase A deficiency, juvenile form|metachromatic leukodystrophy|cerebral sclerosis, diffuse, metachromatic form|sulfatide lipidosis|ARSA deficiency											SCTID:238031009|GARD:0004545|Orphanet:309263|GARD:0003230|ICD10:E75.2|OMIM:250100																		owl:Class
MONDO:0032687	biolink:NamedThing	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		mondoexuq1wtf	IDDABS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE											OMIM:618342																		owl:Class
MONDO:0013608	biolink:NamedThing	Joubert syndrome 13	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.	mondoexuq1wtf	JBTS13|Joubert syndrome type 13|TCTN1 Joubert syndrome|Joubert syndrome 13|Joubert syndrome caused by mutation in TCTN1											UMLS:C3280031|DOID:0110982|OMIM:614173																		owl:Class
MONDO:0020397	biolink:NamedThing	parachute tricuspid valve	Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.	mondoexuq1wtf												Orphanet:99056|ICD10:Q22.8																		owl:Class
MONDO:0005668	biolink:NamedThing	bird fancier's lung	Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.	mondoexuq1wtf	pigeon-breeder lung disease|bird breeder's lung|Avian hypersensitivity pneumonitis|poultry worker's lung|bird fancier lung|bird-fancier's lung|pigeon-breeder's lung|bird fancier's lung|bird-breeder's lung|pigeon breeder's lung|bird-fanciers' lung											DOID:13891|UMLS:C0005592|Orphanet:99908|ICD9:495.2|EFO:0007170|MESH:D001716|MedDRA:10004941|ICD10:J67.2|SCTID:69339004|NCIT:C34425																		owl:Class
MONDO:0006215	biolink:NamedThing	gallbladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the gall bladder.	mondoexuq1wtf	gallbladder adenocarcinoma|gall bladder adenocarcinoma|adenocarcinoma of gallbladder|adenocarcinoma of the gallbladder											EFO:1000262|DOID:3500|UMLS:C0279651|NCIT:C9166																		owl:Class
MONDO:0009382	biolink:NamedThing	hyperbilirubinemia, shunt, primary		mondoexuq1wtf	hyperbilirubinemia, shunt, primary|PSHB											OMIM:237800																		owl:Class
MONDO:0018806	biolink:NamedThing	primary intrahepatic lithiasis		mondoexuq1wtf	primary hepatolithiasis|PIHL											Orphanet:480506																		owl:Class
MONDO:0018039	biolink:NamedThing	selective IgM deficiency	Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.	mondoexuq1wtf	SIgMD|selective immunoglobulin M deficiency|selective IgM deficiency disease											SCTID:190980000|GARD:0012547|DOID:0050222|ICD9:279.02|Orphanet:331235|COHD:434893|ICD10:D80.4														https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency				owl:Class
MONDO:0056821	biolink:NamedThing	bronchiolitis obliterans organizing pneumonia	Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.	mondoexuq1wtf	organized pneumonia|cryptogenic organizing pneumonia|BOOP|COP|organizing pneumonia|constrictive bronchiolitis											SCTID:68409003|GARD:0005961																		owl:Class
MONDO:0003049	biolink:NamedThing	ovarian large-cell neuroendocrine carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.	mondoexuq1wtf	large cell neuroendocrine carcinoma of the ovary|large cell neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of ovary|non-small-cell type neuroendocrine carcinoma of the ovary|ovary large cell neuroendocrine carcinoma|ovarian non-small-cell type neuroendocrine carcinoma|large-cell neuroendocrine carcinoma of the ovary|non-small-cell type neuroendocrine carcinoma of ovary|ovarian large cell NEC|ovarian large cell neuroendocrine carcinoma											NCIT:C5238|UMLS:C1335174|DOID:4555																		owl:Class
MONDO:0006249	biolink:NamedThing	hyperplastic polyp	A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).	mondoexuq1wtf	MP|Hp|metaplastic polyp											EFO:1000299|NCIT:C4083|UMLS:C0333983																		owl:Class
MONDO:0016785	biolink:NamedThing	complete hydatidiform mole	Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.	mondoexuq1wtf	complete Mole|classical hydatidiform Mole|complete hydatid Mole|complete molar pregnancy											UMLS:C0678213|ICD10:O01.0|SCTID:237249000|Orphanet:254688|ONCOTREE:CHM|NCIT:C4871																		owl:Class
MONDO:0011561	biolink:NamedThing	Alzheimer disease 6	An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.	mondoexuq1wtf	Alzheimer's disease 6|plasma Beta-amyloid-42 level quantitative trait locus|AD6|Alzheimer's disease type 6|Alzheimer disease 6|Alzheimer disease type 6|Alzheimer disease 6, late onset|Alzheimer disease 6, late-onset											ICD10:G30|MESH:C565325|DOID:0110038|OMIM:605526																		owl:Class
MONDO:0005582	biolink:NamedThing	binge eating disorder	Recurrent episodes of over-eating.	mondoexuq1wtf	binge eating disorder|binge eating											SCTID:439960005|MESH:D002032|NCIT:C97162|EFO:0005924																		owl:Class
MONDO:0006637	biolink:NamedThing	acute kidney tubular necrosis	Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.	mondoexuq1wtf	acute tubular necrosis|ATN - acute tubular necrosis|acute tubule necrosis|acute renal failure with lesion of tubular necrosis|acute renal failure with tubular necrosis											MESH:D007683|UMLS:C0022672|MedDRA:10023441|EFO:1000794|NCIT:C34749|HP:0008682|ICD10:N17.0|COHD:444044|ICD9:584.5|DOID:12556|SCTID:35455006																		owl:Class
MONDO:0002065	biolink:NamedThing	benign breast adenomyoepithelioma	A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.	mondoexuq1wtf	benign breast adenomyoepithelioma|benign adenomyoepithelioma of the breast|benign adenomyoepithelioma of breast|breast adenomyoepithelioma, benign											NCIT:C5144|DOID:1641|UMLS:C1332477																		owl:Class
MONDO:0033309	biolink:NamedThing	Joubert syndrome 32		mondoexuq1wtf	Joubert syndrome 32|JBTS32											DOID:0080278|UMLS:CN596207|OMIM:617757																		owl:Class
MONDO:0011789	biolink:NamedThing	familial meningioma	A meningioma that is transmitted from the parents to an offspring.	mondoexuq1wtf	hereditary meningioma (disease)|meningioma, familial, susceptibility to|familial meningioma|hereditary meningioma|susceptibility to familial meningioma											MESH:C537443|UMLS:C1333989|NCIT:C5301|DOID:4586|OMIM:607174																		owl:Class
MONDO:0010746	biolink:NamedThing	thumbs, congenital Clasped		mondoexuq1wtf	Clasped thumbs, congenital|thumbs, congenital Clasped|adducted thumbs syndrome											OMIM:314100|GARD:0010277|UMLS:CN074234																		owl:Class
MONDO:0003563	biolink:NamedThing	diffuse pulmonary fibrosis	Diffuse replacement of the lung tissue by connective tissue.	mondoexuq1wtf												DOID:5641|NCIT:C27216|UMLS:C0865849																		owl:Class
MONDO:0008481	biolink:NamedThing	spondylosis, cervical		mondoexuq1wtf	spondylosis, cervical											SCTID:387800004|UMLS:C1384641|OMIM:184300																		owl:Class
MONDO:0019472	biolink:NamedThing	extranodal nasal NK/T cell lymphoma	Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.	mondoexuq1wtf	reticulosis, malignant|angiocentric T-cell lymphoma|lethal midline granuloma|NK/T-cell lymphoma|nasal T/natural killer-cell lymphoma|Extranodal NK/T lymphoma-nasal|nasal type Extranodal NK/T-cell lymphoma|NKTCL|Extranodal NK/T-cell lymphoma, nasal type											GARD:0013270|ICDO:9719/3|ICD10:C86.0|NCIT:C4684|MedDRA:10065855|Orphanet:86879|UMLS:C0392788																		owl:Class
MONDO:0030077	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 3		mondoexuq1wtf	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3|vertebral, cardiac, renal, and limb defects syndrome 3|VCRL3|Congenital Nad Deficiency Disorder 3											OMIM:618845																		owl:Class
MONDO:0001949	biolink:NamedThing	acute thyroiditis	Acute form of thyroiditis (disease).	mondoexuq1wtf	acute thyroiditis (disease)|thyroiditis (disease), acute											ICD9:245.0|UMLS:C0001360|COHD:133737|ICD10:E06.0|DOID:14353|SCTID:190293001																		owl:Class
MONDO:0006446	biolink:NamedThing	testicular embryonal carcinoma	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.	mondoexuq1wtf	embryonal carcinoma of testis|embryonal testis carcinoma|embryonal carcinoma of the testis|testis embryonal carcinoma|testicular embryonal carcinoma											NCIT:C6341|DOID:5680|EFO:1000565|UMLS:C0238448																		owl:Class
MONDO:0017524	biolink:NamedThing	polydactyly of a biphalangeal thumb, bilateral		mondoexuq1wtf	preaxial polydactyly type 1, bilateral											Orphanet:295146|UMLS:CN203255|ICD10:Q69.1																		owl:Class
MONDO:0011012	biolink:NamedThing	African iron overload	African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.	mondoexuq1wtf	hereditary iron overload and African Americans|Bantu siderosis|African iron overload|iron overload in Africa											DOID:0111033|GARD:0008495|MESH:C537904|SCTID:66576001|Orphanet:139507|OMIM:601195|ICD10:E83.1																		owl:Class
MONDO:0016987	biolink:NamedThing	neuroacanthocytosis	Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.	mondoexuq1wtf	neuroacanthocytosis syndrome											GARD:0010902|DOID:0050765|NCIT:C84926|Orphanet:263440																		owl:Class
MONDO:0014562	biolink:NamedThing	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome		mondoexuq1wtf	COQ4-related neonatal encephalomyopathy|primary coenzyme Q10 deficiency 7|COQ10D7|coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7											UMLS:C4225392|Orphanet:457185|OMIM:616276|DOID:0070244																		owl:Class
MONDO:0014508	biolink:NamedThing	vitelliform macular dystrophy 4	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.	mondoexuq1wtf	IMPG1 vitelliform macular dystrophy|macular dystrophy, vitelliform, 4|VMD4|vitelliform macular dystrophy caused by mutation in IMPG1|macular dystrophy, vitelliform, type 4											OMIM:616151|UMLS:C4015342																		owl:Class
MONDO:0003447	biolink:NamedThing	clear cell hidradenoma	An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.	mondoexuq1wtf	clear cell myoepithelioma|clear cell hidradenoma|clear cell hidradenoma (morphologic abnormality)											UMLS:C1370701|NCIT:C7567|DOID:5443																		owl:Class
MONDO:0003426	biolink:NamedThing	clear cell adenoma	A benign neoplasm composed of glands containing epithelial clear cells.	mondoexuq1wtf	clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign|clear cell adenoma											DOID:5390|UMLS:C0334315|NCIT:C4151|ICDO:8310/0																		owl:Class
MONDO:0030905	biolink:NamedThing	deafness, autosomal recessive 117		mondoexuq1wtf	DFNB117|deafness, autosomal recessive 117											OMIM:619174																		owl:Class
MONDO:0024889	biolink:NamedThing	benign mesonephroma	A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	mondoexuq1wtf	benign Mesonephroma|mesonephric duct adenoma|Wolffian duct adenoma|Mesonephroma, benign (morphologic abnormality)|benign mesonephric neoplasm|mesonephric adenoma|mesonephric neoplasm, benign|Mesonephroma, benign											ICDO:9110/0|NCIT:C4294|DOID:2616|UMLS:C0334530																		owl:Class
MONDO:0007053	biolink:NamedThing	restless legs syndrome 1		mondoexuq1wtf	acromelalgia, hereditary|RLS1|Ekbom syndrome|restless legs syndrome, susceptibility to, 1											GARD:0009709|OMIM:102300|MESH:C538443|UMLS:C3888109																		owl:Class
MONDO:0042969	biolink:NamedThing	partial duplication of the long arm of chromosome 12	Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	trisomy 12q|chromosome 12q duplication|12q trisomy|Duplication 12q|12q duplication|partial trisomy 12q											MESH:C538300|GARD:0001926|UMLS:C0795846																		owl:Class
MONDO:0012805	biolink:NamedThing	childhood onset GLUT1 deficiency syndrome 2	Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.	mondoexuq1wtf	paroxysmal exercise-induced dystonia|dystonia 18|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|ped with or without epilepsy and/or hemolytic Anemia|DYT-SLC2A1|PxMD-SLC2A1|GLUT1DS2|DYT18|GLUT1 deficiency syndrome type 2|paroxysmal exertion-induced dyskinesia|GLUT1 deficiency syndrome 2|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome type 2											ICD10:G24.8|UMLS:C1842534|GARD:0010541|MESH:C564288|SCTID:724072002|OMIM:612126|Orphanet:98811|DOID:0090045																		owl:Class
MONDO:0022424	biolink:NamedThing	alpha-mannosidosis type 1		mondoexuq1wtf												UMLS:C2931251|MESH:C536584																		owl:Class
MONDO:0014526	biolink:NamedThing	polyglucosan body myopathy type 2	Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.	mondoexuq1wtf	PGBM2|GYG1 polyglucosan body myopathy|polyglucosan body myopathy 2|polyglucosan body myopathy caused by mutation in GYG1|polyglucosan body myopathy type 2											OMIM:616199|UMLS:C4015452|Orphanet:456369|ICD10:E74.0																		owl:Class
MONDO:0008187	biolink:NamedThing	panic disorder 1		mondoexuq1wtf	panic disorder susceptibility locus, chromosome 13Q-related|panic disorder 1|PAND1|panic disorder with Joint laxity|panic disorder|panic disorder with bladder conditions											OMIM:167870																		owl:Class
MONDO:0032757	biolink:NamedThing	ciliary dyskinesia, primary, 41		mondoexuq1wtf	CILD41|CILIARY DYSKINESIA, PRIMARY, 41											OMIM:618449																		owl:Class
MONDO:0016212	biolink:NamedThing	cyclosporosis	Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.	mondoexuq1wtf	Cyclospora cayetanensis infectious disease|infection of intestine caused by Cyclospora cayetanensis|Cyclospora cayetanensis caused disease or disorder|cyclosporosis|intestinal infection caused by Cyclospora cayetanensis|Cyclospora cayetanensis disease or disorder											SCTID:716860005|Orphanet:210|UMLS:C4274225|ICD10:A07.3																		owl:Class
MONDO:0005725	biolink:NamedThing	cyclosporiasis	A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.	mondoexuq1wtf	Cyclospora infectious disease|Cyclospora disease or disorder|Cyclospora infection|Cyclospora caused disease or disorder											SCTID:240372001|ICD9:007.5|EFO:0007230|NCIT:C128409|DOID:12750|MESH:D021866|ICD10:A07.4|GARD:0009528|UMLS:C0343398																		owl:Class
MONDO:0018981	biolink:NamedThing	benign idiopathic neonatal seizures	A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.	mondoexuq1wtf	benign nonfamilial neonatal seizures|BINS											Orphanet:64545|ICD10:G40.4|UMLS:CN205419																		owl:Class
MONDO:0009771	biolink:NamedThing	oculotrichodysplasia	Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.	mondoexuq1wtf	OTD|Cecato de Lima-Pinheiro syndrome|oculotrichodysplasia											MESH:C564934|OMIM:257960|UMLS:C1850332|SCTID:722062004|Orphanet:2718																		owl:Class
MONDO:0018601	biolink:NamedThing	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		mondoexuq1wtf												Orphanet:440354|UMLS:CN237631																		owl:Class
MONDO:0011617	biolink:NamedThing	arthropathy, erosive		mondoexuq1wtf	arthropathy, erosive											UMLS:C1853829|MESH:C565273|OMIM:605935																		owl:Class
MONDO:0025382	biolink:NamedThing	sarcoma, avian	Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.	mondoexuq1wtf	Avian sarcoma|sarcomas, Avian|sarcoma, Rous|Avian sarcomas|Rous sarcoma											MESH:D001357																		owl:Class
MONDO:0015498	biolink:NamedThing	oromandibular-limb anomalies syndrome		mondoexuq1wtf												UMLS:CN199634|Orphanet:156215																		owl:Class
MONDO:0020687	biolink:NamedThing	supratentorial ependymal tumor	An ependymal tumor arising from the supratentorial region of the brain.	mondoexuq1wtf	supratentorial ependymal tumor											NCIT:C131611																		owl:Class
MONDO:0003237	biolink:NamedThing	adenomyoma of uterine corpus	A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.	mondoexuq1wtf	uterine corpus adenomyoma|body of uterus adenomyoma|corpus uteri adenomyoma|uterine body adenomyoma|adenomyoma of body of uterus|adenomyoma of the uterine body|adenomyoma of the uterine corpus|adenomyoma of the corpus uteri|adenomyoma of uterine body|adenomyoma of uterine corpus|adenomyoma of the body of uterus|adenomyoma of corpus uteri											DOID:4994|UMLS:C1336903|NCIT:C6338																		owl:Class
MONDO:0008098	biolink:NamedThing	mesomelic dwarfism, Nievergelt type		mondoexuq1wtf	Nievergelt syndrome|mesomelic dwarfism Nievergelt type|mesomelic dysplasia, Nievergelt type|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula											SCTID:33979003|UMLS:C0432231|Orphanet:2633|GARD:0003554|OMIM:163400|ICD10:Q78.8|MESH:C536120																		owl:Class
MONDO:0022871	biolink:NamedThing	corpus callosum agenesis of blepharophimosis robin type		mondoexuq1wtf												GARD:0001538														https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type				owl:Class
MONDO:0013657	biolink:NamedThing	intellectual disability, autosomal dominant 10	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.	mondoexuq1wtf	autosomal dominant intellectual disability 10|MRD10|CACNG2 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 10|intellectual disability, autosomal dominant type 10|autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|intellectual disability, autosomal dominant 10|autosomal dominant mental retardation 10|mental retardation, autosomal dominant 10|autosomal dominant non-syndromic intellectual disability 10											DOID:0070040|UMLS:C3280284|OMIM:614256																		owl:Class
MONDO:0010287	biolink:NamedThing	hereditary spastic paraplegia 16	A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.	mondoexuq1wtf	X-linked spastic paraplegia type 16|spastic paraplegia 16, X-linked|X-linked spastic paraplegia 16|hereditary spastic paraplegia type 16|SPG16|spastic paraplegia 16											GARD:0009585|Orphanet:100997|DOID:0110769|MESH:C536643|ICD10:G11.4|UMLS:C1846046|OMIM:300266																		owl:Class
MONDO:0017916	biolink:NamedThing	pure or complex X-linked spastic paraplegia		mondoexuq1wtf	Pure or complicated X-linked spastic paraplegia											ICD10:G11.4|Orphanet:320350																		owl:Class
MONDO:0012628	biolink:NamedThing	coronary heart disease, susceptibility to, 8		mondoexuq1wtf	coronary heart disease, susceptibility to, 8|CHDS8											OMIM:611139																		owl:Class
MONDO:0019479	biolink:NamedThing	histiocytic sarcoma	An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.	mondoexuq1wtf	histiocytic sarcoma|sarcoma, histiocytic, malignant											Orphanet:86896|MESH:D054747|NCIT:C27349|ICDO:9755/3|ICD10:C96.A|ICD9:171.9|ONCOTREE:HS|ICD10:C96.8|SCTID:109988003|UMLS:C0334663																		owl:Class
MONDO:0014136	biolink:NamedThing	pulmonary hypertension, primary, 4	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.	mondoexuq1wtf	primary pulmonary hypertension caused by mutation in KCNK3|PPH4|pulmonary hypertension, primary, type 4|KCNK3 primary pulmonary hypertension|pulmonary hypertension, primary, 4											UMLS:C3809198|OMIM:615344																		owl:Class
MONDO:0011591	biolink:NamedThing	cataract 26 multiple types	A cataract that has material basis in variation in the region 9q13-q22.	mondoexuq1wtf	cataract, autosomal recessive, early-onset, pulverulent|cataract 26, multiple types|CTRCT26											MESH:C565298|ICD10:Q12.0|DOID:0110246|UMLS:C1854003|OMIM:605749																		owl:Class
MONDO:0018694	biolink:NamedThing	isolated tracheo-esophageal fistula	A congenital or acquired abnormal communication between the trachea and the esophagus.	mondoexuq1wtf	tracheoesophageal fistula|isolated tracheoesophageal fistula|H-type tracheoesophageal fistula|tracheo-esophageal fistula											ICD10:Q39.2|NCIT:C35080|Orphanet:454750																		owl:Class
MONDO:0004665	biolink:NamedThing	nodular sclerosis classical Hodgkin lymphoma	A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)	mondoexuq1wtf	classical Hodgkin lymphoma, nodular sclerosis|Hodgkin lymphoma, nodular sclerosis|Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin's lymphoma|Hodgkin's lymphoma, nodular sclerosis|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|NSHL|NSHD|Hodgkin's nodular sclerosis|Hodgkin's disease, nodular sclerosis|Hodgkin's disease, nodular sclerosis of unspecified site|nodular sclerosis classical Hodgkin lymphoma|nodular sclerosis Classic Hodgkin lymphoma|nodular sclerosis Hodgkin's disease|nodular sclerosis Hodgkin lymphoma|NSCHL											ICD10:C81.1|ICD9:201.5|DOID:8838|COHD:4038842|SCTID:118608000|NCIT:C3518|ONCOTREE:NSCHL|ICDO:9663/3|EFO:0004708																		owl:Class
MONDO:0044791	biolink:NamedThing	combined hepatocellular carcinoma and cholangiocarcinoma	A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.	mondoexuq1wtf	combined hepatocellular carcinoma and cholangiocarcinoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|Mixed hepatocellular cholangiocarcinoma|carcinoma of liver and intrahepatic biliary tract|liver and intrahepatic biliary tract carcinoma|Hepatocholangiocarcinoma|Cholangiohepatoma|carcinoma of the liver and intrahepatic biliary tract|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)											Orphanet:529852|NCIT:C3828|SCTID:274902006																		owl:Class
MONDO:0016550	biolink:NamedThing	congenital primary megaureter, obstructed form		mondoexuq1wtf												Orphanet:238646|ICD10:Q62.2																		owl:Class
MONDO:0033364	biolink:NamedThing	developmental and epileptic encephalopathy, 55		mondoexuq1wtf	DEE55|infantile epileptic encephalopathy 55|glycosylphosphatidylinositol biosynthesis defect 14|epileptic encephalopathy, early infantile, 55|EIEE55											DOID:0080283|OMIM:617599																		owl:Class
MONDO:0003621	biolink:NamedThing	small intestinal vasoactive intestinal peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.	mondoexuq1wtf	small intestinal VIPoma|small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor|small intestinal vasoactive intestinal peptide producing tumor|small intestinal VIP-producing NET											DOID:5740|NCIT:C27455|UMLS:C1336009																		owl:Class
MONDO:0009208	biolink:NamedThing	faciothoracogenital syndrome		mondoexuq1wtf	faciothoracogenital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|facio thoraco genital syndrome											OMIM:227320|GARD:0002228|UMLS:C2931184|MESH:C536387																		owl:Class
MONDO:0011771	biolink:NamedThing	distal spinal muscular atrophy type 3	Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	mondoexuq1wtf	HMN 4|neuronopathy, distal hereditary motor, type 3|dSMA3|neuronopathy, distal hereditary motor, type 4|distal hereditary motor neuropathy type 3 and type 4|dHMN4|dHMN3|HMN 3|dHMN3 and dHMN4|spinal muscular atrophy, distal, autosomal recessive, 3|autosomal recessive distal spinal muscular atrophy type 3|neuropathy, distal hereditary motor, type 4											DOID:0111211|Orphanet:139547|OMIM:607088|ICD10:G12.2|UMLS:C1846823|MESH:C564626																		owl:Class
MONDO:0008651	biolink:NamedThing	vertebral hypoplasia with lumbar kyphosis		mondoexuq1wtf	vertebral hypoplasia with lumbar kyphosis											MESH:C566002|UMLS:C1860463|OMIM:192900																		owl:Class
MONDO:0008017	biolink:NamedThing	hereditary mucoepithelial dysplasia	Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.	mondoexuq1wtf	Urban-Schosser-Spohn syndrome|Hmd|mucoepithelial dysplasia, hereditary											GARD:0005427|SCTID:403442005|OMIM:158310|ICD9:478.79|Orphanet:1839|MESH:C536476														https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia				owl:Class
MONDO:0017988	biolink:NamedThing	multifocal atrial tachycardia	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.	mondoexuq1wtf	chaotic atrial tachycardia|MAT|multifocal atrial tachycardia (disease)|multifocal atrial tachycardia		multifocal atrial tachycardia (disease)									HP:0011701|GARD:0001235|ICD9:427.89|UMLS:C0221158|SCTID:49982000|Orphanet:3282|ICD10:I47.1																		owl:Class
MONDO:0004559	biolink:NamedThing	malignant glandular tumor of peripheral nerve sheath	A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.	mondoexuq1wtf	malignant glandular neoplasm of peripheral nerve sheath|malignant glandular peripheral nerve sheath tumor|malignant glandular peripheral nerve sheath neoplasm|malignant glandular tumor of peripheral nerve sheath|glandular MPNST|malignant glandular tumor of the peripheral nerve sheath|malignant glandular schwannoma|malignant glandular neoplasm of the peripheral nerve sheath|glandular malignant peripheral nerve sheath tumor											NCIT:C6560|ICD9:171.9|SCTID:699659007|UMLS:C1333821|DOID:8420																		owl:Class
MONDO:0011139	biolink:NamedThing	preaxial hallucal polydactyly		mondoexuq1wtf	preaxial hallucal polydactyly											MESH:C566632|UMLS:C1866339|OMIM:601759																		owl:Class
MONDO:0016018	biolink:NamedThing	diabetic embryopathy	Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.	mondoexuq1wtf												UMLS:C3830518|Orphanet:1926|ICD10:P00.4|SCTID:716020005|NCIT:C113485																		owl:Class
MONDO:0002696	biolink:NamedThing	Sertoli cell tumor	A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.	mondoexuq1wtf	Sertoli cell tumor|tubular androblastoma|tubular androblastoma NOS (morphologic abnormality)											DOID:3577|MESH:D012707|NCIT:C39976|UMLS:C0036769|ICDO:8640/1|ICDO:8630/1																		owl:Class
MONDO:0012878	biolink:NamedThing	Cowden syndrome 2	Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.	mondoexuq1wtf	CWS2|Cowden syndrome type 2|SDHB Cowden disease|Cowden disease caused by mutation in SDHB|Cowden syndrome 2											UMLS:C3552552|MESH:C567337|OMIM:612359																		owl:Class
MONDO:0007186	biolink:NamedThing	gastroesophageal reflux disease	A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.	mondoexuq1wtf	gastro-esophageal reflux|gastroesophageal reflux|Gastresophageal reflux|acid reflux|ger|GERD|GERD - gastro-esophageal reflux disease|gastroesophageal reflux disease|gastroesophageal reflux, pediatric											ICD10:K21|OMIM:109350|UMLS:C0017168|SCTID:235595009|ICD10:K21.9|DOID:8534|ICD9:530.81|MESH:D005764|COHD:318800|NCIT:C26781|EFO:0003948																		owl:Class
MONDO:0008878	biolink:NamedThing	bone dysplasia, lethal Holmgren type	Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.	mondoexuq1wtf	autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type											Orphanet:1842|SCTID:732249002|UMLS:C1859407|OMIM:211120|GARD:0000922|MESH:C565896|ICD10:Q77.8														https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type				owl:Class
MONDO:0031010	biolink:NamedThing	odontochondrodysplasia 2 with hearing loss and diabetes		mondoexuq1wtf	ODCD2											OMIM:619269																		owl:Class
MONDO:0031169	biolink:NamedThing	odontochondrodysplasia		mondoexuq1wtf												OMIMPS:184260																		owl:Class
MONDO:0020450	biolink:NamedThing	azygos continuation of the inferior vena cava		mondoexuq1wtf	azygos continuation of the IVC|azygos continuation of the inferior caval vein											ICD10:Q26.8|Orphanet:99121																		owl:Class
MONDO:0007807	biolink:NamedThing	hypoxanthine guanine phosphoribosyltransferase suppressor		mondoexuq1wtf	hypoxanthine guanine phosphoribosyltransferase suppressor											OMIM:146580																		owl:Class
MONDO:0004826	biolink:NamedThing	urethral calculus	A concretion in the urethra.	mondoexuq1wtf	urethral Stone|urethra urolithiasis|urolithiasis of urethra											SCTID:20342001|ICD9:594.2|ICD10:N21.1|DOID:9589|UMLS:C0162301																		owl:Class
MONDO:0007768	biolink:NamedThing	hyperparathyroidism 2 with jaw tumors	An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.	mondoexuq1wtf	parathyroid adenomatosis, familial cystic|hyperparathyroidism 2 with jaw tumors|hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism-2|hyperparathyroidism 2|hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|familial primary hyperparathyroidism with multiple ossifying jaw fibromas|HRPT2|hyperparathyroidism type 2|HPT-JT											Orphanet:99880|GARD:0010829|UMLS:C1704981|NCIT:C48287|SCTID:702378002|OMIM:145001|ICD10:E21.0														https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome				owl:Class
MONDO:0009371	biolink:NamedThing	3-hydroxyisobutyric aciduria	3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.	mondoexuq1wtf	3-hydroxyisobutyric aciduria|disorder of valine metabolism											UMLS:C0342737|Orphanet:939|MESH:C535312|SCTID:237957007|OMIM:236795|GARD:0005662|ICD9:791.9|ICD10:E71.1														https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria				owl:Class
MONDO:0014030	biolink:NamedThing	primary ciliary dyskinesia 20	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.	mondoexuq1wtf	primary ciliary dyskinesia 20 with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC114|ciliary dyskinesia, primary, 20, with or without situs inversus|primary ciliary dyskinesia type 20|ciliary dyskinesia, primary, type 20|ciliary dyskinesia, primary, 20|CILD20|CCDC114 primary ciliary dyskinesia											DOID:0110625|UMLS:C3540844|ICD10:Q34.8|OMIM:615067																		owl:Class
MONDO:0018765	biolink:NamedThing	cryptogenic multifocal ulcerous stenosing enteritis		mondoexuq1wtf	CMUSE											Orphanet:468635|UMLS:C4302263|SCTID:722849002																		owl:Class
MONDO:0003990	biolink:NamedThing	malignant breast myoepithelioma	An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.	mondoexuq1wtf	breast malignant myoepithelioma|malignant breast myoepithelioma|breast myoepithelial carcinoma											DOID:6776|UMLS:C1518167|NCIT:C40395																		owl:Class
MONDO:0017502	biolink:NamedThing	acheiria, unilateral		mondoexuq1wtf	congenital absence of hand, unilateral											ICD10:Q71.3|Orphanet:295101																		owl:Class
MONDO:0010968	biolink:NamedThing	glaucoma 3, primary infantile, B		mondoexuq1wtf	Glc3, type B|GLC3B|glaucoma 3, primary infantile, B|primary congenital glaucoma type 3B|glaucoma 3 primary infantile B|glaucoma, primary congenital, type B|primary congenital glaucoma|glaucoma primary congenita type 3B|GLC3 type B											MESH:C536824|UMLS:C1832977|OMIM:600975|GARD:0002490														https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b				owl:Class
MONDO:0007383	biolink:NamedThing	Stern-Lubinsky-Durrie syndrome	Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.	mondoexuq1wtf	corneo-dermato-osseous syndrome|Stern Lubinsky Durrie syndrome|CORNEODERMATOOSSEOUS syndrome|corneal dystrophy epithelial and short stature|Cdo syndrome|corneal dystrophy, epithelial, with skin and skeletal changes											SCTID:723584003|MESH:C537488|ICD10:H18.5|Orphanet:3194|OMIM:122440|GARD:0001531																		owl:Class
MONDO:0004059	biolink:NamedThing	dentin sensitivity	Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.	mondoexuq1wtf	sensitive dentin											UMLS:C0011432|MESH:D003807|DOID:698|SCTID:13468005																		owl:Class
MONDO:0008737	biolink:NamedThing	congenital afibrinogenemia	Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.	mondoexuq1wtf	afibrinogenemia, congenital|fibrinogen deficiency|hypofibrinogenemia, congenital|factor I deficiency|afibrinogenemia congenital|afibrinogenemia|familial afibrinogenemia											DOID:2236|OMIM:202400|NCIT:C98130|GARD:0005761|ICD10:D68.2|MESH:D000347|Orphanet:98880|SCTID:154818001																		owl:Class
MONDO:0014452	biolink:NamedThing	familial dysfibrinogenemia	Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.	mondoexuq1wtf	dysfibrinogenemia|hypodysfibrinogenemia, congenital|dysfibrinogenemia, congenital|congenital dysfibrinogenemia|dysfibrinogenemia, familial|familial dysfibrinogenemia											UMLS:C1260903|SCTID:111589005|ICD9:286.3|OMIM:616004|UMLS:CN207171|GARD:0002004|NCIT:C131659|Orphanet:98881|ICD10:D68.2														https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia				owl:Class
MONDO:0021179	biolink:NamedThing	proteostasis deficiencies	Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.	mondoexuq1wtf	folding disease, Protein|Misfolding disease, Protein|Protein folding disorder|dysfunctions, Proteostasis|proteopathy|Protein Misfolding diseases|diseases, Protein Misfolding|Protein Misfolding disorder|Protein Misfolding disorders|dysfunction, Proteostasis|disease, Protein Misfolding|Proteostasis deficiency|disorder, Protein folding|Protein folding disorders|Misfolding disorders, Protein|Proteostasis dysfunction|disorders, Protein Misfolding|folding disorders, Protein|folding diseases, Protein|diseases, Protein folding|proteopathic disease|disorder, Protein Misfolding|Protein Misfolding disease|Proteostasis dysfunctions|Protein folding disease|folding disorder, Protein|proteinopathy|disorders, Protein folding|disease, Protein folding|deficiencies, Proteostasis|Protein folding diseases|Misfolding diseases, Protein|deficiency, Proteostasis|Misfolding disorder, Protein											UMLS:C2718001|MESH:D057165																		owl:Class
MONDO:0033670	biolink:NamedThing	deafness, autosomal recessive 116		mondoexuq1wtf	DFNB116											OMIM:619093																		owl:Class
MONDO:0006184	biolink:NamedThing	ductal breast carcinoma in situ and lobular carcinoma in situ	The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.	mondoexuq1wtf	non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|DCIS and LCIS of the breast|non-invasive ductal with non-invasive lobular breast carcinoma|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|ductal and lobular carcinoma in situ of breast|intraductal and lobular carcinoma in situ of the breast|ductal and lobular breast carcinoma in situ|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|ductal carcinoma in situ with lobular carcinoma in situ of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|intraductal carcinoma and lobular carcinoma in situ|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|intraductal and lobular carcinoma in situ of breast|non-invasive ductal and non-invasive lobular breast carcinoma|DCIS and LCIS of breast|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|ductal and lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|non-invasive ductal and non-invasive lobular carcinoma											EFO:1000221|ICDO:8522/2|NCIT:C4195|UMLS:C0334383																		owl:Class
MONDO:0043576	biolink:NamedThing	endarteritis	Inflammation of the arterial intima.	mondoexuq1wtf	Endarteritides|tunica intima of artery inflammation|inflammation of tunica intima of artery|endarteritis											UMLS:C0014100|EFO:0009084|SCTID:33806008|MESH:D004692|NCIT:C34581																		owl:Class
MONDO:0012313	biolink:NamedThing	short QT syndrome type 2	Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	mondoexuq1wtf	short QT syndrome 2|short QT syndrome type 2|short QT syndrome caused by mutation in KCNQ1|KCNQ1 short QT syndrome|SQT2											OMIM:609621|UMLS:C1865019|MESH:C566505																		owl:Class
MONDO:0012824	biolink:NamedThing	hypomyelinating leukodystrophy 4	Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.	mondoexuq1wtf	leukodystrophy, hypomyelinating, type 4|MitCHAP60 disease|leukodystrophy, hypomyelinating, 4|hypomyelinating leukodystrophy type 4|mitochondrial HSP60 chaperonopathy|Mitchap60 disease|HLD4|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|HSPD1 leukodystrophy|mitochondrial Hsp60 chaperonopathy|leukodystrophy caused by mutation in HSPD1											Orphanet:280288|UMLS:C2677109|OMIM:612233|MESH:C567390|ICD10:E75.2|DOID:0060789																		owl:Class
MONDO:0005005	biolink:NamedThing	clear cell renal carcinoma	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.	mondoexuq1wtf	clear cell renal cell carcinoma|clear cell carcinoma of kidney|conventional renal cell carcinoma|conventional (clear cell) renal cell adenocarcinoma|RCC, clear cell adenocarcinoma|renal clear cell carcinoma|conventional (clear cell) renal cell carcinoma|clear cell adenocarcinoma of kidney|hypernephroma|clear-cell metastatic renal cell carcinoma|clear cell adenocarcinoma of the kidney|clear cell renal cell cancer|clear cell carcinoma of the kidney|renal clear cell adenocarcinoma|clear cell adenocarcinoma, kidney|kidney clear cell adenocarcinoma|renal cell carcinoma, clear cell adenocarcinoma|clear cell kidney carcinoma|kidney clear cell carcinoma|Grawitz tumor											ONCOTREE:CCRCC|SCTID:254915003|ICD9:189.0|DOID:4467|NCIT:C4033|GARD:0009574|EFO:0000349																		owl:Class
MONDO:0003624	biolink:NamedThing	acinic cell breast carcinoma	A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.	mondoexuq1wtf	acinic cell breast carcinoma|acinar cell breast carcinoma|breast carcinoma of acinar cell											DOID:5743|UMLS:C1515868|NCIT:C40367																		owl:Class
MONDO:0009064	biolink:NamedThing	ocular cystinosis	Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.	mondoexuq1wtf	non-nephropathic cystinosis|cystinosis, benign Nonnephropathic|adult-onset cystinosis|cystinosis, ADULT NONNEPHROPATHIC|cystinosis, ocular Nonnephropathic											OMIM:219750|MESH:C535765|ICD10:E72.0|Orphanet:411641|UMLS:C2931013																		owl:Class
MONDO:0014980	biolink:NamedThing	cone-rod dystrophy and hearing loss		mondoexuq1wtf	cone-rod dystrophy and hearing loss; CRDHL|cone-rod dystrophy and hearing loss|CRDHL											UMLS:C4310657|EFO:0009151|OMIMPS:617236																		owl:Class
MONDO:0008749	biolink:NamedThing	pseudohypoparathyroidism type 2	Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.	mondoexuq1wtf	Php 2|pseudohypoparathyroidism, type II|PHP2|PHP II											UMLS:C2932717|ICD10:E20.1|MESH:C548077|Orphanet:94090|ICD9:275.49|OMIM:203330|UMLS:CN206737|SCTID:42183005|GARD:0010682														https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2				owl:Class
MONDO:0012462	biolink:NamedThing	autosomal recessive frontotemporal pachygyria		mondoexuq1wtf	pachygyria, frontotemporal											GARD:0010003|MESH:C538092|Orphanet:329329|OMIM:610279|UMLS:C1853215|ICD10:Q04.3																		owl:Class
MONDO:0020823	biolink:NamedThing	infantile miliaria		mondoexuq1wtf												SCTID:402824003																		owl:Class
MONDO:0043125	biolink:NamedThing	mcpherson robertson cammarano syndrome		mondoexuq1wtf	dominantly inherited ptosis, strabismus and ectopic pupils											MESH:C538161|GARD:0003431|UMLS:C2931751																		owl:Class
MONDO:0005518	biolink:NamedThing	pseudohermaphroditism	A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.	mondoexuq1wtf	indeterminate sex and pseudohermaphroditism											ICD10:Q56|EFO:0005579|Wikipedia:Pseudohermaphroditism|DOID:3765|COHD:73584|ICD10:Q56.3|NCIT:C124575|ICD9:752.7|SCTID:75164001																		owl:Class
MONDO:0001749	biolink:NamedThing	cortical senile cataract	A senile cataract that involves the lens cortex.	mondoexuq1wtf	senile cataract of lens cortex|cortical senile cataract|lens cortex senile cataract											ICD9:366.15|SCTID:78875003|DOID:13574|UMLS:C0154980|COHD:432895																		owl:Class
MONDO:0004841	biolink:NamedThing	kidney hypertrophy	Global enlargement of the renal parenchyma in one or both kidneys.	mondoexuq1wtf	hypertrophy of the kidney|renal Hypertrophy											DOID:9622|SCTID:88531004|NCIT:C122991|ICD9:593.1|ICD10:N28.81|COHD:192686|UMLS:C0156259																		owl:Class
MONDO:0005977	biolink:NamedThing	tabes dorsalis	A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.	mondoexuq1wtf	posterior spinal sclerosis|syphilitic myelopathy|tabes dorsalis - neurosyphilis											ICD10:A52.11|COHD:373962|MESH:D013606|DOID:10027|GARD:0008730|EFO:0007505|ICD9:094.0|SCTID:316841006|UMLS:C0039223|NCIT:C35057																		owl:Class
MONDO:0024650	biolink:NamedThing	drug-induced osteoporosis		mondoexuq1wtf	drug-induced osteoporosis											SCTID:14651005|ICD9:733.09																		owl:Class
MONDO:0030019	biolink:NamedThing	anauxetic dysplasia 3		mondoexuq1wtf	ANXD3|ANAUXETIC DYSPLASIA 3|anauxetic dysplasia 3											OMIM:618853																		owl:Class
MONDO:0001537	biolink:NamedThing	tuberculous epididymitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.	mondoexuq1wtf												ICD9:016.40|UMLS:C0152814|ICD9:016.4|SCTID:83652003|ICD9:016.41|ICD9:016.42|ICD9:016.46|DOID:1251																		owl:Class
MONDO:0060568	biolink:NamedThing	Pilarowski-Bjornsson syndrome		mondoexuq1wtf	Pilarowski-Bjornsson syndrome|PILBOS|developmental delay and speech apraxia with or without seizures											Orphanet:529965|UMLS:C4540131|OMIM:617682																		owl:Class
MONDO:0016510	biolink:NamedThing	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	mondoexuq1wtf												Orphanet:231742|UMLS:CN226948																		owl:Class
MONDO:0000239	biolink:NamedThing	adiaspiromycosis	Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).	mondoexuq1wtf	adiaspirosis|haplosporangiosis|pulmonary adiaspiromycosis|adiaspiromycosis											ICD9:117.9|UMLS:C0259737|DOID:0050072|MEDGEN:537148|SCTID:23892008																		owl:Class
MONDO:0014199	biolink:NamedThing	developmental and epileptic encephalopathy, 17	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.	mondoexuq1wtf	GNAO1 encephalopathy|epileptic encephalopathy, early infantile, 17|EIEE17|DEE17|early infantile epileptic encephalopathy-17|GNAO1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy caused by mutation in GNAO1											OMIM:615473|DOID:0080450|UMLS:C3809606|GARD:0013378																		owl:Class
MONDO:0014663	biolink:NamedThing	Silver-Russell syndrome 3		mondoexuq1wtf	GRDF|growth restriction, severe, with distinctive facies|SRS3											UMLS:C4225307|OMIM:616489																		owl:Class
MONDO:0007758	biolink:NamedThing	epidermolytic palmoplantar keratoderma	A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.	mondoexuq1wtf	keratosis palmaris Et plantaris Familiaris|palmoplantar keratoderma, epidermolytic|epidermolytic palmoplantar keratoderma of Vörner|Ppke|diffuse erythrodermic palmoplantar keratoderma, Vörner type|tylosis|epidermolytic palmoplantar keratoderma of Voerner|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|EPPK|epidermolytic palmoplantar keratoderma of VC6rner|palmoplantar keratoderma, Vorner type|diffuse erythrodermic palmoplantar keratoderma, Voerner type|keratoderma, epidermolytic palmoplantar|palmoplantar keratoderma, epidermolytic, with knuckle pads|keratosis of Greither|hyperkeratosis palmoplantar localized epidermolytic|hyperkeratosis, localized epidermolytic											ICD10:Q82.8|GARD:0002826|DOID:0080223|SCTID:399955009|Orphanet:2199|ICD9:757.39|OMIM:144200|NCIT:C84693|UMLS:C1721006														https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma				owl:Class
MONDO:0014915	biolink:NamedThing	short-rib thoracic dysplasia 16 with or without polydactyly		mondoexuq1wtf	SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly|short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16											UMLS:C4310718|OMIM:617102																		owl:Class
MONDO:0010113	biolink:NamedThing	thalidomide susceptibility		mondoexuq1wtf	thalidomide susceptibility											OMIM:273600																		owl:Class
MONDO:0008986	biolink:NamedThing	circumvallate placenta syndrome		mondoexuq1wtf	circumvallate placenta syndrome											MESH:C565847|UMLS:C1859089|OMIM:215550																		owl:Class
MONDO:0060702	biolink:NamedThing	spondyloepimetaphyseal dysplasia, di rocco type		mondoexuq1wtf	SEMDDR|spondyloepimetaphyseal dysplasia, Di Rocco type											OMIM:617974|UMLS:CN244923																		owl:Class
MONDO:0001426	biolink:NamedThing	mediastinum neurofibroma	A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.	mondoexuq1wtf	mediastinum neurofibroma|neurofibroma of mediastinum|mediastinal neurofibroma|neurofibroma of the mediastinum											NCIT:C6631|UMLS:C1334674|DOID:12064																		owl:Class
MONDO:0010937	biolink:NamedThing	isoproterenol-mediated vasodilatation		mondoexuq1wtf	isoproterenol-mediated vasodilatation											OMIM:600801|UMLS:C1833276																		owl:Class
MONDO:0017782	biolink:NamedThing	developmental and speech delay due to SOX5 deficiency	Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	mondoexuq1wtf												Orphanet:313892																		owl:Class
MONDO:0017245	biolink:NamedThing	intralobar congenital pulmonary sequestration		mondoexuq1wtf	intralobar congenital bronchopulmonary sequestration|congenital intrapulmonary sequestration											ICD10:Q33.2|Orphanet:280802																		owl:Class
MONDO:0030953	biolink:NamedThing	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2		mondoexuq1wtf	SSFSC2|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2											OMIM:619184																		owl:Class
MONDO:0024266	biolink:NamedThing	patent ductus arteriosus 3	Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.	mondoexuq1wtf	patent ductus arteriosus caused by mutation in PRDM6|PRDM6 patent ductus arteriosus|PDA3|patent ductus arteriosus 3											OMIM:617039																		owl:Class
MONDO:0004355	biolink:NamedThing	childhood leukemia	An acute or chronic leukemia that occurs during childhood.	mondoexuq1wtf	leukemia|pediatric leukemia (disease)|leukemia (disease) of childhood|childhood leukemia|childhood leukemia (disease)											DOID:7757|UMLS:C1332977|NCIT:C4989																		owl:Class
MONDO:0016672	biolink:NamedThing	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		mondoexuq1wtf	HPFH-sickle cell disease syndrome											HGNC:3627|Orphanet:251380|UMLS:CN201912|ICD10:D57.2|HGNC:5153																		owl:Class
MONDO:0018434	biolink:NamedThing	acute myeloid leukemia with t(9;11)(p22;q23)		mondoexuq1wtf	AML with t(9;11)(p22;q23)											ICD10:C92.0|Orphanet:402017																		owl:Class
MONDO:0035363	biolink:NamedThing	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome		mondoexuq1wtf												Orphanet:597623														https://github.com/monarch-initiative/mondo/issues/3541				owl:Class
MONDO:0019569	biolink:NamedThing	Cockayne syndrome type 1	Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.	mondoexuq1wtf	Cockayne syndrome caused by mutation in ERCC8|Cockayne syndrome classic form|Cockayne syndrome A|Cockayne syndrome type A|CSA|Cockayne syndrome type a|Cockayne syndrome classical|Cockayne syndrome type I|ERCC8 Cockayne syndrome											NCIT:C135725|UMLS:C0751039|Orphanet:90321|GARD:0001415|ICD10:Q87.8|OMIM:216400														https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i				owl:Class
MONDO:0032716	biolink:NamedThing	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		mondoexuq1wtf	LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE|ARLIAK											OMIM:618384																		owl:Class
MONDO:0016460	biolink:NamedThing	polyvalvular heart disease syndrome	Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.	mondoexuq1wtf	PHD syndrome											Orphanet:228410|ICD10:Q87.8|UMLS:CN201425|UMLS:C4509918|SCTID:723448007																		owl:Class
MONDO:0008090	biolink:NamedThing	cyclic hematopoiesis	A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.	mondoexuq1wtf	neutropenia cyclic|CH|neutropenia, periodic|cyclic hematopoiesis|CN|cyclical neutropenia|cyclic neutropenia|dysplasia, myelocytic periodic|periodic neutropenia|cyclic agranulocytosis											OMIM:162800|MESH:C536227|ICD10:D70|SCTID:191347008|MedDRA:10053176|GARD:0006229|NCIT:C3820|DOID:5339|COHD:432297|Orphanet:2686|ICD9:288.02|ICD10:D70.4																		owl:Class
MONDO:0060759	biolink:NamedThing	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures		mondoexuq1wtf	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|NEDAMSS											OMIM:618088																		owl:Class
MONDO:0017151	biolink:NamedThing	pulmonary arterial hypertension associated with connective tissue disease	Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.	mondoexuq1wtf	PAH associated with connective tissue disease											ICD9:416.8|UMLS:CN202578|ICD10:I27.2|Orphanet:275798|UMLS:C3697982|SCTID:697903007|EFO:0009196																		owl:Class
MONDO:0008161	biolink:NamedThing	otodental syndrome	Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.	mondoexuq1wtf	otodental syndrome|chromosome 11q13 deletion syndrome|oculootodental syndrome|globodontia|otodental syndrome with coloboma|otodental dysplasia											OMIM:166750|ICD10:K00.2|Orphanet:2791|SCTID:707310009|GARD:0004168|UMLS:C1833693																		owl:Class
MONDO:0008119	biolink:NamedThing	spinocerebellar ataxia type 1	Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	mondoexuq1wtf	cerebelloparenchymal disorder 1|OPCA 1|OPCA 4|Sca1|spinocerebellar ataxia 1|spinocerebellar ataxia type 1|Schut-haymaker type OPCA|ATXN1 autosomal dominant cerebellar ataxia type I|spinocerebellar atrophy 1|OPCA1|Menzel type OPCA|olivopontocerebellar atrophy 1|OPCA4|olivopontocerebellar atrophy 4|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1											DOID:0050954|GARD:0004071|SCTID:715748006|ICD10:G11.8|Orphanet:98755|OMIM:164400|UMLS:C0752120|NCIT:C129982																		owl:Class
MONDO:0009914	biolink:NamedThing	pseudodiastrophic dysplasia	Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.	mondoexuq1wtf	Pseudodiastrophic dwarfism|pseudodiastrophic dysplasia											UMLS:C0432206|Orphanet:85174|ICD9:756.9|ICD10:Q78.8|OMIM:264180|SCTID:254058002|GARD:0009463|MESH:C535826														https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia				owl:Class
MONDO:0003336	biolink:NamedThing	acute necrotizing encephalitis	A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)	mondoexuq1wtf	acute necrotizing encephalopathy|acute necrotizing encephalitis|ANE											NCIT:C35383|SCTID:111897007|UMLS:C0338418|DOID:5222|ICD9:049.8|GARD:0013233																		owl:Class
MONDO:0015400	biolink:NamedThing	frontonasal arteriovenous malformation	Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.	mondoexuq1wtf												ICD10:Q27.3|Orphanet:141168																		owl:Class
MONDO:0007516	biolink:NamedThing	ectrodactyly and ectodermal dysplasia without cleft lip/palate		mondoexuq1wtf	ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate|EEC syndrome without cleft Lip/palate											UMLS:C1851849|MESH:C565065|OMIM:129810|Orphanet:1888																		owl:Class
MONDO:0043317	biolink:NamedThing	amyopathic dermatomyositis	Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.	mondoexuq1wtf	amyopathic dermatomyositis|ADM|dermatomyositis sine myositis											SCTID:238935002|UMLS:C0406645|GARD:0009907|MESH:C538250																		owl:Class
MONDO:0024290	biolink:NamedThing	enuresis	An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).	mondoexuq1wtf	enuresis											NCIT:C34588|MESH:D004775|UMLS:C0014394																		owl:Class
MONDO:0002979	biolink:NamedThing	papillary squamous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.	mondoexuq1wtf	papillary epidermoid carcinoma|papillary epidermoid cell carcinoma|papillary squamous carcinoma|papillary squamous cell carcinoma											DOID:4385|NCIT:C4102|ICDO:8052/3|UMLS:C0334244																		owl:Class
MONDO:0024325	biolink:NamedThing	cutaneous glomangiomyoma	A glomangiomyoma that involves the zone of skin.	mondoexuq1wtf	glomangiomyoma of skin|zone of skin glomangiomyoma											UMLS:C1275227|ICD9:227.6|SCTID:403971002																		owl:Class
MONDO:0018684	biolink:NamedThing	idiopathic neonatal atrial flutter	Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.	mondoexuq1wtf	neonatal cardiac dysrhythmia											SCTID:715560009|Orphanet:45452|ICD10:P29.1|UMLS:CN205105																		owl:Class
MONDO:0009286	biolink:NamedThing	gluteal muscles, absence of		mondoexuq1wtf	absence of gluteal muscle|gluteal muscle, absence of|congenital absence of gluteal muscles|gluteal muscles, absence of											MESH:C535561|OMIM:231970|GARD:0008518														https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle				owl:Class
MONDO:0022898	biolink:NamedThing	craniosynostosis intellectual disability heart defects		mondoexuq1wtf												GARD:0001600														https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects				owl:Class
MONDO:0015011	biolink:NamedThing	optic atrophy 11	Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.	mondoexuq1wtf	optic atrophy 11|optic atrophy type 11|OPA11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1|YME1L1 autosomal recessive isolated optic atrophy											DOID:0111436|OMIM:617302|UMLS:CN230145|UMLS:C4310628																		owl:Class
MONDO:0007132	biolink:NamedThing	anonychia-ectrodactyly		mondoexuq1wtf	anonychia ectrodactyly|anonychia-ectrodactyly											MESH:C566277|OMIM:106900|GARD:0000708|UMLS:C1862843														https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly				owl:Class
MONDO:0021142	biolink:NamedThing	acquired rippling muscle disease	The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.	mondoexuq1wtf	sporadic rippling muscle disease|acquired rippling muscle disease																													owl:Class
MONDO:0004118	biolink:NamedThing	cystitis cystica	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.	mondoexuq1wtf												UMLS:C0152262|COHD:201633|NCIT:C96230|SCTID:13285005|DOID:7138|ICD9:595.81																		owl:Class
MONDO:0001685	biolink:NamedThing	chronic follicular conjunctivitis		mondoexuq1wtf												ICD10:H10.43|COHD:372318|ICD9:372.12|SCTID:39429002|UMLS:C0155147|DOID:13326																		owl:Class
MONDO:0012374	biolink:NamedThing	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia		mondoexuq1wtf	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|brachyphalangy, polydactyly and absent tibiae											UMLS:C1864965|OMIM:609945|GARD:0009893|MESH:C537100														https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia				owl:Class
MONDO:0009019	biolink:NamedThing	congenital hereditary endothelial dystrophy of cornea	Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.	mondoexuq1wtf	infantile hereditary endothelial dystrophy|Maumenee corneal dystrophy|congenital hereditary endothelial dystrophy of cornea|CHEDII|congenital hereditary endothelial dystrophy of the cornea|congenital hereditary endothelial dystrophy type 2|corneal endothelial dystrophy 2|CHED2, formerly|corneal endothelial dystrophy 2, autosomal recessive|congenital hereditary endothelial dystrophy type II|corneal dystrophy, congenital hereditary endothelial|corneal endothelial dystrophy 2, autosomal recessive, formerly|corneal endothelial dystrophy type 2|CHED|autosomal recessive CHED|CHED2|corneal endothelial dystrophy|autosomal recessive congenital hereditary endothelial dystrophy											ICD10:H18.5|MESH:C536439|OMIM:217700|GARD:0006196|DOID:0060649|Orphanet:293603														https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2				owl:Class
MONDO:0045015	biolink:NamedThing	carbohydrate transport disease	A disease that has its basis in the disruption of carbohydrate transport.	mondoexuq1wtf	disorder of carbohydrate transport|carbohydrate transport disease											SCTID:54905006|UMLS:C0268173																		owl:Class
MONDO:0032917	biolink:NamedThing	deafness, autosomal dominant 76		mondoexuq1wtf	DFNA76|DEAFNESS, AUTOSOMAL DOMINANT 76											OMIM:618787																		owl:Class
MONDO:0004122	biolink:NamedThing	thymus small cell carcinoma	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	mondoexuq1wtf	small cell carcinoma of Thymus|thymic small cell carcinoma neuroendocrine type|Thymus small cell carcinoma|thymus small cell carcinoma|small cell carcinoma of thymus|thymic small cell carcinoma|small cell carcinoma of the Thymus											EFO:1000578|UMLS:C1335980|NCIT:C6460|DOID:7142																		owl:Class
MONDO:0014428	biolink:NamedThing	autosomal recessive nonsyndromic deafness 102	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in EPS8|DFNB102|deafness, autosomal recessive 102|autosomal recessive nonsyndromic deafness type 102|EPS8 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 102|autosomal recessive deafness 102											ICD10:H90.3|OMIM:615974|UMLS:C3892050|DOID:0110463																		owl:Class
MONDO:0014252	biolink:NamedThing	familial hypobetalipoproteinemia 1	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.	mondoexuq1wtf	acanthocytosis with hypobetalipoproteinemia|FHBL|hypobetalipoproteinemia, familial, type 1|FHBL1|hypobetalipoproteinemia caused by mutation in APOB|hypobetalipoproteinemia, Normotriglyceridemic|APOB hypobetalipoproteinemia|hypobetalipoproteinemia, familial|hypobetalipoproteinemia, familial, 1|familial hypobetalipoproteinemia type 1											DOID:0111062|GARD:0002876|SCTID:60193003|UMLS:CN182502|MESH:C566267|OMIM:615558																		owl:Class
MONDO:0021036	biolink:NamedThing	keratosis pilaris	A form of dry skin characterised by hair follicles plugged by scale.	mondoexuq1wtf	KP											NCIT:C124070|SCTID:5132005																		owl:Class
MONDO:0009328	biolink:NamedThing	hemangiomatosis, cutaneous, with associated features		mondoexuq1wtf	hemangiomatosis, cutaneous, with associated features											MESH:C562438|UMLS:C0220738|OMIM:234800																		owl:Class
MONDO:0001085	biolink:NamedThing	interstitial nephritis	Inflammation of the renal tubules and supporting tissues of the kidney.	mondoexuq1wtf	renal tubulo-interstitial disease|Tubulointerstitial nephritis											UMLS:C0041349|DOID:1063|SCTID:28689008|MESH:D009395|UMLS:C0027707|NCIT:C26834|ICD9:583.89|ICD10:N12																		owl:Class
MONDO:0002125	biolink:NamedThing	status epilepticus	A life-threatening situation in which the brain is in a continuous state of seizure.	mondoexuq1wtf	grand mal status|SE|GCSE|generalized convulsive status epilepticus											MESH:D013226|DOID:1824|SCTID:230456007|GARD:0010191|NCIT:C85079|UMLS:C0038220|EFO:0008526|ICD10:G41														https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus				owl:Class
MONDO:0013120	biolink:NamedThing	46,XY sex reversal 5		mondoexuq1wtf	Sex reversal, XY, Cbx2-related|46,XY SEX reversal 5|46,XY Sex reversal, Cbx2-related|disorder of Sex development, 46,XY, Cbx2-related|46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY Sex reversal type 5|46,XY sex reversal 5|SRXY5											UMLS:C2751317|DOID:0111776|OMIM:613080|MESH:C567766																		owl:Class
MONDO:0010551	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked recessive 3	X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.	mondoexuq1wtf	Charcot-Marie-Tooth disease X-linked recessive type 3|CMTX 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|Charcot-Marie-Tooth disease, X-linked recessive, 3|CMTX3|CMT3X|Charcot Marie Tooth disease X-linked recessive 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3											OMIM:302802|DOID:0110211|Orphanet:101077|MESH:C535303|GARD:0001244|UMLS:C1844865|ICD10:G60.0|SCTID:763458005																		owl:Class
MONDO:0008464	biolink:NamedThing	split hand-foot malformation 1	Split-hand/foot malformation mapped to chromosome 7q21.3	mondoexuq1wtf	split-hand/foot malformation 1|split-hand/foot malformation 1 with or without deafness|split-hand deformity|split hand-foot malformation type 1|ectrodactyly|SHFD1|SHFM1|split-hand/foot deformity 1|split-hand/foot malformation type 1											DOID:0090021|GARD:0007685|NCIT:C75045|ICD10:Q71.6|OMIM:183600|UMLS:C2931019																		owl:Class
MONDO:0019141	biolink:NamedThing	porokeratosis of Mibelli	Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.	mondoexuq1wtf												ICD10:Q82.8|UMLS:C0949506|ICD9:757.39|GARD:0004438|SCTID:80432009|Orphanet:735																		owl:Class
MONDO:0005314	biolink:NamedThing	relapsing-remitting multiple sclerosis	The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)	mondoexuq1wtf	RRMS|Relapsing-remitting MS											MESH:D020529|DOID:2378|SCTID:426373005|UMLS:C0751967|EFO:0003929																		owl:Class
MONDO:0009948	biolink:NamedThing	pyropoikilocytosis, hereditary	An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.	mondoexuq1wtf	HPP|hereditary pyropoikilocytosis|pyropoikilocytosis, hereditary|pyropoikilocytosis hereditary											OMIM:266140|MESH:C563004|GARD:0004619|NCIT:C98943|ICD9:790.09|SCTID:9434008|Orphanet:98867														https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary				owl:Class
MONDO:0000250	biolink:NamedThing	osmotic diarrheal disease	A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.	mondoexuq1wtf	permeability diarrhea|osmotic diarrhea											MEDGEN:540779|DOID:0050130|UMLS:C0267556|SCTID:2946003																		owl:Class
MONDO:0045030	biolink:NamedThing	non-infectious diarrheal disease		mondoexuq1wtf	non-infective diarrhea|presumed non-infectious diarrhea											SCTID:69980003|UMLS:C0267436																		owl:Class
MONDO:0017242	biolink:NamedThing	cutaneous collagenous vasculopathy	Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.	mondoexuq1wtf	CCV|cutaneus colagenous vasculopathy											Orphanet:280779|UMLS:C4305323|GARD:0012428|SCTID:718634003																		owl:Class
MONDO:0014760	biolink:NamedThing	TFRC-related combined immunodeficiency		mondoexuq1wtf	Cid due to TFRC deficiency|immunodeficiency 46|IMD46|combined immunodeficiency due to TFRC deficiency|immunodeficiency type 46											UMLS:C4225219|OMIM:616740|Orphanet:476113																		owl:Class
MONDO:0032755	biolink:NamedThing	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES|NEDBA											OMIM:618443																		owl:Class
MONDO:0002061	biolink:NamedThing	intraductal papillary breast neoplasm	A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.	mondoexuq1wtf	intraductal papillary breast neoplasm											NCIT:C36090|DOID:1628|UMLS:C1334252																		owl:Class
MONDO:0019617	biolink:NamedThing	pituitary deficiency due to empty sella turcica syndrome		mondoexuq1wtf	hypopituitarism due to empty sella turcica syndrome											SCTID:715668008|ICD10:E23.0|UMLS:CN206468|Orphanet:91354|UMLS:C4275064																		owl:Class
MONDO:0011143	biolink:NamedThing	cone-rod dystrophy 6	Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	mondoexuq1wtf	cone-rod dystrophy caused by mutation in GUCY2D|CORD6|cone-rod dystrophy type 6|cone-rod dystrophy 6|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|RCD2											OMIM:601777|UMLS:C1866293|DOID:0111011|MESH:C538363|GARD:0010656																		owl:Class
MONDO:0018664	biolink:NamedThing	ectopia cordis	A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.	mondoexuq1wtf	ectopia cordis|ectopia cordis (disease)		ectopia cordis (disease)									ICD10:Q24.8|ICD9:746.87|SCTID:78250005|Orphanet:448270|MESH:D054083|HP:0001683|NCIT:C111643																		owl:Class
MONDO:0032744	biolink:NamedThing	spermatogenic failure 37		mondoexuq1wtf	SPERMATOGENIC FAILURE 37|SPGF37											OMIM:618429																		owl:Class
MONDO:0009698	biolink:NamedThing	Unverricht-Lundborg syndrome	Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.	mondoexuq1wtf	progressive myoclonus epilepsy Baltic myoclonic epilepsy|Baltic myoclonic epilepsy|epilepsy, progressive myoclonic type 1|Unverricht - Lundborg disease|Unverricht-Lundborg disease|Uld|EPM1|ULD|progressive myoclonus epilepsy type 1|myoclonus progressive epilepsy of Unverricht and Lundborg|epilepsy, progressive myoclonic, 1|Unverricht's disease|PME type 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonus 1|progressive myoclonic epilepsy type 1|myoclonic epilepsy of Unverricht and Lundborg|epilepsy, progressive myoclonic, 1A											OMIM:254800|Orphanet:308|MESH:D020194|UMLS:C0751785|GARD:0003876|MedDRA:10054895|SCTID:230423006|DOID:3535|ICD10:G40.3																		owl:Class
MONDO:0018692	biolink:NamedThing	variably protease-sensitive prionopathy		mondoexuq1wtf												ICD10:A81.8|UMLS:C4303527|SCTID:721165001|Orphanet:454742																		owl:Class
MONDO:0023204	biolink:NamedThing	Fukuda-Miyanomae-Nakata syndrome		mondoexuq1wtf	muscular dystrophy, congenital, Fukuyama type|Cerebromuscular dystrophy, Fukuyama type|muscular dystrophy, congenital progressive, with intellectual disability|muscular dystrophy, congenital, with central nervous system involvement|FCMD|Fukuyama type muscular dystrophy|muscular dystrophy, congenital progressive, with mental retardation											GARD:0002411|UMLS:CN776933|Orphanet:2060|GARD:0006475														https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy|https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome				owl:Class
MONDO:0016030	biolink:NamedThing	Evans syndrome	Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.	mondoexuq1wtf	immune pancytopenia|Evan syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia|Evans' syndrome											Orphanet:1959|NCIT:C61284|MESH:C536380|GARD:0006389|ICD9:287.32|DOID:8931|SCTID:75331009|COHD:436956|UMLS:C0272126|ICD10:D69.3|MedDRA:10053873|ICD10:D69.41														https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome				owl:Class
MONDO:0032594	biolink:NamedThing	intellectual developmental disorder and retinitis pigmentosa; IDDRP		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA|IDDRP											OMIM:618195																		owl:Class
MONDO:0005376	biolink:NamedThing	membranous glomerulonephritis	A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.	mondoexuq1wtf	membranous Glomerulonephropathy|membranous nephropathy											COHD:252365|MESH:D015433|UMLS:C0017665|EFO:0004254|DOID:10976|ICD9:582.1|ICD9:583.1|ICD10:N03.2|SCTID:77182004|NCIT:C34645																		owl:Class
MONDO:0006835	biolink:NamedThing	lipoid nephrosis	A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.	mondoexuq1wtf	nephrotic syndrome with lesion of minimal change glomerulonephritis|nil disease|MCNS|minimal change nephrotic syndrome|nephrotic syndrome with lesion of minimal change nephrotic syndrome|lipoid nephrosis|minimal change glomerulonephritis|minimal change disease|minimal change nephropathy|minimal change glomerulopathy|idiopathic minimal change nephrotic syndrome											MESH:D009402|SCTID:44785005|EFO:1001020|NCIT:C34844|ICD10:N04|GARD:0009147|DOID:10966|MedDRA:10058325|UMLS:C0027721																		owl:Class
MONDO:0006244	biolink:NamedThing	HER2 positive breast carcinoma	A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).	mondoexuq1wtf	Her2-receptor positive breast cancer|HER2 positive breast carcinoma|HER2 Overexpressing subtype of breast carcinoma|HER2 Overexpressing breast carcinoma|HER2 Positive breast cancer|ERBB2 Overexpressing subtype of breast carcinoma											EFO:1000294|DOID:0060079|SCTID:427685000|UMLS:C1960398|NCIT:C53556																		owl:Class
MONDO:0011761	biolink:NamedThing	autosomal dominant nonsyndromic deafness 21	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.	mondoexuq1wtf	deafness, autosomal dominant 21|DFNA21|autosomal dominant nonsyndromic deafness type 21|autosomal dominant deafness 21											ICD10:H90.3|MESH:C564634|DOID:0110551|UMLS:C1846922|OMIM:607017																		owl:Class
MONDO:0001928	biolink:NamedThing	suppurative cholangitis	Cholangitis that is characterized by pyogenic organisms.	mondoexuq1wtf	suppurative cholangitis											UMLS:C0267924|DOID:14269|NCIT:C35336|ICD10:K83.0|SCTID:69850007																		owl:Class
MONDO:0009094	biolink:NamedThing	dermochondrocorneal dystrophy	Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.	mondoexuq1wtf	Dermochondrocorneal dystrophy of François|dermochondrocorneal dystrophy|Francois syndrome|François syndrome|DCCD|FranC'ois syndrome											GARD:0001815|UMLS:C0432288|ICD9:379.99|Orphanet:79149|SCTID:254150007|OMIM:221800|MESH:C535375																		owl:Class
MONDO:0014083	biolink:NamedThing	agammaglobulinemia 7, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.	mondoexuq1wtf	AGM7|agammaglobulinemia 7, autosomal recessive|autosomal agammaglobulinemia caused by mutation in PIK3R1|PIK3R1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect											OMIM:615214|UMLS:C3554689																		owl:Class
MONDO:0009146	biolink:NamedThing	ectodermal dysplasia-sensorineural deafness syndrome	Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	mondoexuq1wtf	ectodermal dysplasia-sensorineural hearing loss syndrome|hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|Mikaelian syndrome|congenital ectodermal dysplasia with hearing loss|ectodermal dysplasia and neurosensory deafness											Orphanet:1883|MESH:C535757|UMLS:C1857068|GARD:0009723|MESH:C565606|OMIM:224800														https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss				owl:Class
MONDO:0004878	biolink:NamedThing	female breast upper-outer quadrant cancer		mondoexuq1wtf												DOID:9773|UMLS:C0153552|ICD9:174.4|SCTID:188154003|ICD10:C50.41																		owl:Class
MONDO:0018581	biolink:NamedThing	progressive encephalomyelitis with rigidity and myoclonus		mondoexuq1wtf	perm											GARD:0013110|Orphanet:438266|UMLS:C1861457|ICD10:G04.8														https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus				owl:Class
MONDO:0008113	biolink:NamedThing	Schilbach-Rott syndrome	Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.	mondoexuq1wtf	cleft palate, hypotelorism, and hypospadias|blepharofacioskeletal syndrome|hypotelorism-cleft palate-hypospadias syndrome|Schilbach-Rott syndrome|BRSS|hypotelorism cleft palate hypospadias|ocular hypotelorism, submucosal cleft palate, and hypospadias											GARD:0002930|Orphanet:2353|MESH:C563509|ICD10:Q87.8|SCTID:721902002|OMIM:164220														https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias				owl:Class
MONDO:0011261	biolink:NamedThing	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	mondoexuq1wtf	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation|spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome											OMIM:602611|MESH:C566515|Orphanet:163649|ICD10:Q77.7|SCTID:718766002																		owl:Class
MONDO:0019258	biolink:NamedThing	mild phenylketonuria	Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.	mondoexuq1wtf	mild PKU|mPKU|variant PKU|variant phenylketonuria											Orphanet:79253|ICD10:E70.1|GARD:0010324														https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria				owl:Class
MONDO:0009946	biolink:NamedThing	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.	mondoexuq1wtf	pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|uridine 5'-monophosphate hydrolase deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|UMPH1 deficiency|Umph1 deficiency|P5N deficiency|hemolytic Anemia due to P5N deficiency|hemolytic Anemia due to Umph1 deficiency											MESH:C564859|OMIM:266120|UMLS:C1849507|ICD10:D55.3|Orphanet:35120																		owl:Class
MONDO:0021275	biolink:NamedThing	papilloma of eyelid	A papilloma that involves the eyelid.	mondoexuq1wtf	eyelid papilloma|papilloma of the eyelid											UMLS:C1142491|NCIT:C4061|SCTID:314515006																		owl:Class
MONDO:0020817	biolink:NamedThing	miliaria vesiculosa		mondoexuq1wtf												SCTID:201195008																		owl:Class
MONDO:0016539	biolink:NamedThing	atypical hypotonia-cystinuria syndrome	Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).	mondoexuq1wtf	atypical HCS											Orphanet:238523|ICD10:E72.0|UMLS:CN201620																		owl:Class
MONDO:0001712	biolink:NamedThing	alexia	A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.	mondoexuq1wtf	acquired alexia|alexia, acquired|spelling dyslexia, acquired|disabilities, acquired reading|Word Blindnesses, acquired|reading disability, acquired|acquired reading disability|acquired Word blindness|acquired global dyslexia|global dyslexia, acquired|acquired reading disabilities|reading disabilities, acquired|dyslexia, acquired spelling|acquired spelling dyslexia|dyslexia, acquired global|acquired dyslexia|disability, acquired reading|aphemesthaesia|acquired Word Blindnesses|Blindnesses, acquired Word|Word blindness, acquired|blindness, acquired Word											COHD:440084|MESH:D004411|ICD9:315.01|DOID:13417																		owl:Class
MONDO:0100345	biolink:NamedThing	lactose intolerance		mondoexuq1wtf	lactase persistence|lactose intolerance (disease)|lactose intolerance|LM - lactose malabsorption		lactose intolerance (disease)									SCTID:267425008|HP:0004789|EFO:1000062|ICD10:E73.9|Orphanet:319681|NCIT:C3154|UMLS:C0022951|DOID:10604|COHD:4143342|ICD10:E73|ICD9:271.3																		owl:Class
MONDO:0016676	biolink:NamedThing	recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	mondoexuq1wtf	hyperzincemia and hypercalprotectinemia											Orphanet:251523|UMLS:C1860229|ICD10:E83.2																		owl:Class
MONDO:0020316	biolink:NamedThing	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.	mondoexuq1wtf	AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|acute myelomonocytic leukemia|CBFB-MYH11											ICD10:C92.5|Orphanet:98829|GARD:0000536														https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22				owl:Class
MONDO:0011042	biolink:NamedThing	Martinez-Frias syndrome		mondoexuq1wtf	pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martínez-Frías syndrome|Martinez-Frias syndrome											UMLS:CN199270|Orphanet:137862|OMIM:601346|UMLS:C1832443																		owl:Class
MONDO:0019984	biolink:NamedThing	renal tubular dysgenesis due to twin-twin transfusion	'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'	mondoexuq1wtf												UMLS:CN206914|ICD10:Q63.8|Orphanet:97367																		owl:Class
MONDO:0006786	biolink:NamedThing	hepatic vein thrombosis	A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.	mondoexuq1wtf	hepatic vein thrombosis|Budd-Chiari syndrome											MedDRA:10006537|SCTID:38739001|MedDRA:10019713|DOID:11512|ICD9:453.0|ICD10:I82.0|EFO:1000966																		owl:Class
MONDO:0016269	biolink:NamedThing	high-grade neuroendocrine carcinoma of the corpus uteri	High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.	mondoexuq1wtf	poorly differentiated neuroendocrine carcinoma of the corpus uteri|poorly differentiated neuroendocrine carcinoma of the endometrium|high-grade neuroendocrine carcinoma of the uterine corpus											ICD10:C54.1|ICD10:C54.2|ICD10:C54.0|Orphanet:213731|UMLS:CN201058|ICD10:C54.8|ICD10:C54.3																		owl:Class
MONDO:0025701	biolink:NamedThing	leukodystrophy, hypomyelinating, 22		mondoexuq1wtf	HLD22											OMIM:619328																		owl:Class
MONDO:0004428	biolink:NamedThing	alveoli adenoma	A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.	mondoexuq1wtf	adenoma of alveoli|adenoma, bronchioloalveolar, benign|alveolar adenoma|alveolar adenoma (morphologic abnormality)|adenoma of the alveoli											ICDO:8251/0|UMLS:C0334303|NCIT:C4140|DOID:8003																		owl:Class
MONDO:0015856	biolink:NamedThing	syndromic breast hypoplasia/aplasia		mondoexuq1wtf												Orphanet:180193|UMLS:CN226755																		owl:Class
MONDO:0006010	biolink:NamedThing	salmonid viral hemorrhagic septicemia	A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),	mondoexuq1wtf												MESH:D031941|UMLS:C1135869|EFO:0007539																		owl:Class
MONDO:0003480	biolink:NamedThing	pineal region dysgerminoma	A dysgerminoma (disease) that involves the pineal body.	mondoexuq1wtf	pineal region dysgerminoma|pineal dysgerminoma|pineal body dysgerminoma (disease)											DOID:5510|NCIT:C7169|UMLS:C1335415																		owl:Class
MONDO:0013229	biolink:NamedThing	hot water reflex epilepsy	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.	mondoexuq1wtf	epilepsy, hot water|water immersion epilepsy|bathing epilepsy|hot water epilepsy					Editor note: TODO add ECTO						ICD9:345.10|SCTID:230454005|DC:0000151|Orphanet:166412|ICD10:G40.8|UMLS:C0393729|OMIMPS:613339|UMLS:CN200053																		owl:Class
MONDO:0002581	biolink:NamedThing	spindle cell rhabdomyosarcoma	An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.	mondoexuq1wtf	spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS											ONCOTREE:SCRMS|NCIT:C6519|UMLS:C1266134|SCTID:404055006|ICD9:171.9|ICDO:8912/3|DOID:3260																		owl:Class
MONDO:0044993	biolink:NamedThing	sympathetic nervous system disease	A disease or disorder that involves the sympathetic nervous system.	mondoexuq1wtf	disease or disorder of sympathetic nervous system|sympathetic nervous system disease or disorder|disorder of sympathetic nervous system|sympathetic nervous system disease|disease of sympathetic nervous system											SCTID:50330009																		owl:Class
MONDO:0002554	biolink:NamedThing	sympathetic neurilemmoma	A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.	mondoexuq1wtf	sympathetic schwannoma											NCIT:C5421|UMLS:C1336543|DOID:3201																		owl:Class
MONDO:0011982	biolink:NamedThing	autoimmune thyroid disease, susceptibility to, 3		mondoexuq1wtf	AITD3|autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3					Editor note: TODO check causative gene; check ORDO synonyms						OMIM:608175																		owl:Class
MONDO:0060583	biolink:NamedThing	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease		mondoexuq1wtf	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease|PLTEID											OMIM:617718|UMLS:C4540232																		owl:Class
MONDO:0016777	biolink:NamedThing	inhalational botulism	Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).	mondoexuq1wtf	inhalation botulism											Orphanet:254504|UMLS:C1443900|ICD10:A05.1|SCTID:409562009																		owl:Class
MONDO:0018786	biolink:NamedThing	pontine autosomal dominant microangiopathy with leukoencephalopathy		mondoexuq1wtf	PADMAL											Orphanet:477749																		owl:Class
MONDO:0002425	biolink:NamedThing	rectosigmoid junction cancer	A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.	mondoexuq1wtf	malignant tumor of rectosigmoid junction|malignant neoplasm of the rectosigmoid junction|malignant neoplasm of rectosigmoid|rectosigmoid junction cancer|malignant tumor of the rectosigmoid junction|cancer of rectosigmoid junction|malignant rectosigmoid tumor|malignant rectosigmoid junction neoplasm|malignant neoplasm of rectosigmoid junction|malignant rectosigmoid neoplasm											UMLS:C0153443|NCIT:C7420|SCTID:363414004|COHD:4180792|ICD9:154.0|DOID:2782|ICD10:C19																		owl:Class
MONDO:0001464	biolink:NamedThing	sigmoid colon cancer	A malignant neoplasm involving the sigmoid colon.	mondoexuq1wtf	sigmoid colon cancer|malignant neoplasm of sigmoid colon|Ca sigmoid colon|cancer of sigmoid colon|malignant tumor of sigmoid colon|malignant sigmoid colon neoplasm											DOID:12192|ICD9:153.3|ICD10:C18.7|UMLS:C0153436|SCTID:363410008																		owl:Class
MONDO:0012046	biolink:NamedThing	congenital corneal opacities, cornea guttata, and corectopia		mondoexuq1wtf	congenital corneal opacities, cornea guttata, and corectopia|corneal opacities, congenital, with cornea guttata and corectopia											MESH:C563921|UMLS:C1837970|OMIM:608484																		owl:Class
MONDO:0008671	biolink:NamedThing	Waardenburg syndrome type 2A	Waardenburg syndrome Type 2 caused by mutations in the MITF gene.	mondoexuq1wtf	MITF Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in MITF|Ws2|WS2A|Waardenburg syndrome, type 2A|Waardenburg syndrome without dystopia canthorum|Waardenburg syndrome type IIA											DOID:0110950|NCIT:C75011|OMIM:193510|GARD:0005521|MESH:C536464														https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a				owl:Class
MONDO:0005908	biolink:NamedThing	peste des petits ruminants infectious disease	A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.	mondoexuq1wtf	Peste des petits ruminants|Small ruminant morbillivirus disease or disorder|Pseudorinderpest|Small ruminant morbillivirus infectious disease|Small ruminant morbillivirus caused disease or disorder											EFO:0007431|UMLS:C0949885|MESH:D029021																		owl:Class
MONDO:0100377	biolink:NamedThing	acute myeloid leukemia, t(10;11)(p12;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)	mondoexuq1wtf	AML, t(10;11)(p12;q23)											NCIT:C132101																		owl:Class
MONDO:0007247	biolink:NamedThing	basal ganglia calcification, idiopathic, childhood-onset		mondoexuq1wtf	bilateral striopallidodentate calcinosis childhood-onset|IBGC childhood onset|idiopathic basal ganglia calcification childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|striopallidodentate calcinosis, bilateral, childhood-onset|cerebral calcification nonarteriosclerotic idiopathic childhood-onset|IBGC, childhood-onset					Not in the OMIM series.						MESH:C536276|UMLS:C1861967|OMIM:114100|GARD:0009598														https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset				owl:Class
MONDO:0001225	biolink:NamedThing	opioid abuse	A substance abuse that involves the recurring use of opioid drugs despite negative consequences.	mondoexuq1wtf												ICD9:305.5|DOID:11206|ICD10:F11.1|SCTID:5602001																		owl:Class
MONDO:0016880	biolink:NamedThing	partial deletion of chromosome 18		mondoexuq1wtf	partial deletion of chromosome type 18|partial monosomy of chromosome 18											ICD10:Q93.5|Orphanet:261836																		owl:Class
MONDO:0004050	biolink:NamedThing	telangiectatic osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.	mondoexuq1wtf	telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|malignant bone aneurysm|TEOS											ONCOTREE:TEOS|NCIT:C3902|UMLS:C0259782|DOID:6951|ICDO:9183/3																		owl:Class
MONDO:0012587	biolink:NamedThing	hypertension, essential, susceptibility to, 7		mondoexuq1wtf	Hyt7|hypertension, essential, susceptibility to, 7|hypertension, essential, susceptibility to, type 7											OMIM:610948																		owl:Class
MONDO:0012529	biolink:NamedThing	Diamond-Blackfan anemia 3	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.	mondoexuq1wtf	RPS24 Diamond-Blackfan anemia|Diamond-Blackfan anemia 3|Diamond-Blackfan Anemia type 3|Diamond-Blackfan anemia caused by mutation in RPS24|DBA3|anemia Diamond-Blackfan 3											GARD:0010241|MESH:C536355|OMIM:610629|UMLS:C1857719														https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3				owl:Class
MONDO:0010558	biolink:NamedThing	choroideremia-deafness-obesity syndrome	Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	mondoexuq1wtf	choroideremia, deafness, and mental retardation|choroideremia, obesity, and congenital deafness|choroideremia deafness obesity|chromosome Xq21 deletion syndrome|choroideremia, deafness, and intellectual disability|Ayazi syndrome											OMIM:303110|MESH:C537793|GARD:0000369|Orphanet:1435|SCTID:717761005|ICD10:Q87.8|UMLS:C1844836																		owl:Class
MONDO:0012880	biolink:NamedThing	hypogonadotropic hypogonadism 5 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 5 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in CHD7|HH5|CHD7 hypogonadotropic hypogonadism|Kallmann syndrome 5|KAL5											MESH:C567220|DOID:0090084|OMIM:612370|ICD10:E23.0|GARD:0010773|UMLS:C3552553														https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5				owl:Class
MONDO:0044763	biolink:NamedThing	diarrheal disease secondary to decreased bowel motility	A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.	mondoexuq1wtf	diarrhea from decreased bowel motility																													owl:Class
MONDO:0000251	biolink:NamedThing	diarrheal disease secondary to altered bowel motility	A diarrhea that results from either increased or decreased motility in the bowel.	mondoexuq1wtf	motility-related diarrhea|diarrhea secondary to altered bowel motility																													owl:Class
MONDO:0020780	biolink:NamedThing	cone-rod dystrophy and hearing loss 2		mondoexuq1wtf	CRDHL2|CONE-ROD DYSTROPHY AND HEARING LOSS 2											OMIM:618358																		owl:Class
MONDO:0009052	biolink:NamedThing	cutis laxa, autosomal recessive, type 1A	An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.	mondoexuq1wtf	cutis laxa, autosomal recessive|ARCL1|autosomal recessive cutis laxa type IA|cutis laxa, autosomal recessive, type IA|ARCL1A											ICD10:Q82.8|UMLS:CN033664|OMIM:219100|SCTID:59451000|MESH:C562628|DOID:0070135																		owl:Class
MONDO:0044742	biolink:NamedThing	autosomal recessive epidermolytic ichthyosis		mondoexuq1wtf	AREI											Orphanet:512103																		owl:Class
MONDO:0100414	biolink:NamedThing	acute myeloid leukemia, CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)	mondoexuq1wtf	AML, C/EBPalpha Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation|AML, C/EBP-Alpha Gene Mutation|AML, CEBPA Mutation|AML, CEBPA gene mutation|AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation|AML, CEBP Gene Mutation											NCIT:C151898																		owl:Class
MONDO:0009443	biolink:NamedThing	autosomal recessive congenital ichthyosis 4B	Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.	mondoexuq1wtf	harlequin type ichthyosis congenita|'Harlequin fetus'|ichthyosis congenita, Harlequin fetus type|Harlequin fetus|harlequin type ichthyosis fetalis|ichthyosis fetalis, Harlequin type|harlequin ichthyosis|hi|ichthyosis, congenital, autosomal recessive 4B|ARCI4B|ichthyosis, congenital, autosomal recessive type 4B|ichthyosis congenita, Harlequin type|autosomal recessive congenital ichthyosis type 4B											ICD10:Q80.4|NCIT:C98934|OMIM:242500|UMLS:C0239849|DOID:0060713|SCTID:205548006|Orphanet:457|GARD:0006568|MedDRA:10019163																		owl:Class
MONDO:0017597	biolink:NamedThing	T-cell/histiocyte rich large B cell lymphoma	T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.	mondoexuq1wtf	T-cell/histiocyte rich lymphoma|T-cell/histiocyte-rich large B-cell lymphoma|T-cell rich/histiocyte-rich large B-cell lymphoma|THRLBCL											ICDO:9680/3|NCIT:C9496|ONCOTREE:THRLBCL|Orphanet:300857|UMLS:C1321547|GARD:0012257|ICD10:C83.3|ICDO:9688/3														https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma				owl:Class
MONDO:0000451	biolink:NamedThing	primary progressive multiple sclerosis	A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.	mondoexuq1wtf	PPMS|primary-progressive MS											EFO:0008520|UMLS:C0751964|SCTID:428700003|DOID:0050784																		owl:Class
MONDO:0007466	biolink:NamedThing	DNA, satellite, 3		mondoexuq1wtf	HS3|D1Z1|DNA, satellite, type 3|DNA, satellite, III					Editor note: TODO check						OMIM:126370																		owl:Class
MONDO:0015004	biolink:NamedThing	dystonia 28, childhood-onset	Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.	mondoexuq1wtf	dystonia 28, childhood-onset|DYT28|KMT2B dystonic disorder|dystonic disorder caused by mutation in KMT2B|dystonia 28, childhood-onset; DYT28											OMIM:617284|UMLS:C4310633|Orphanet:589618																		owl:Class
MONDO:0022500	biolink:NamedThing	arthrogryposis multiplex congenita CNS calcification	A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.	mondoexuq1wtf												GARD:0000785														https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification				owl:Class
MONDO:0012103	biolink:NamedThing	spinocerebellar ataxia type 25	Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.	mondoexuq1wtf	SCA25|spinocerebellar ataxia 25											OMIM:608703|Orphanet:101111|GARD:0009996|UMLS:C1837518|DOID:0050974|SCTID:718770005|MESH:C537202|ICD10:G11.8																		owl:Class
MONDO:0000468	biolink:NamedThing	third-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)	mondoexuq1wtf	atrioventricular block complete|AV block third degree|third degree atrioventricular block|complete AV block|third degree AV block|complete heart block|non-congenital complete atrioventricular block|complete atrioventricular block|atrioventricular block, third degree											DOID:0050823|ICD9:426.0|UMLS:C0151517|SCTID:27885002|NCIT:C50501																		owl:Class
MONDO:0006732	biolink:NamedThing	drug-induced dyskinesia	Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)	mondoexuq1wtf												MedDRA:10013916|GARD:0008236|COHD:373185|SCTID:102448004|MESH:D004409|ICD9:333.99|EFO:1000904																		owl:Class
MONDO:0012206	biolink:NamedThing	Czech dysplasia, metatarsal type	Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.	mondoexuq1wtf	spondyloepiphyseal dysplasia with precocious osteoarthritis|Czech dysplasia metatarsal type|pseudorheumatoid dysplasia progressive, with hypoplastic toes|pseudorheumatoid dysplasia, progressive, with hypoplastic toes|Czech dysplasia, metatarsal type|Czech dysplasia											ICD10:Q77.7|SCTID:720826006|MESH:C535766|Orphanet:137678|OMIM:609162|GARD:0010220														https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type				owl:Class
MONDO:0011082	biolink:NamedThing	oculoauriculofrontonasal syndrome		mondoexuq1wtf	oculoauriculofrontonasal syndrome|OAFNS|OCULOAURICULOFRONTONASAL syndrome|oculoauriculofrontonasal dysplasia											ICD10:Q87.0|UMLS:C1832352|GARD:0004031|Orphanet:398156|OMIM:601452|MESH:C537865														https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome				owl:Class
MONDO:0007064	biolink:NamedThing	adenosine deaminase deficiency	Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.	mondoexuq1wtf	SCID due to ADA deficiency, early-onset|severe combined immunodeficiency due to adenosine deaminase deficiency|adenosine deaminase deficient severe combined immunodeficiency|ADA|SCID due to adenosine deaminase deficiency|ADA deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency|SCID due to ADA deficiency, delayed onset|ADA-SCID|severe combined immunodeficiency due to ADA deficiency|SCID due to ADA deficiency, late-onset|partial ADA deficiency|SCID due to ADA deficiency|adenosine deaminase deficiency, partial											CSP:1560-6660|DOID:5810|MESH:C531816|MedDRA:10066367|ICD10:D81.3|ICD9:277.2|Orphanet:277|OMIM:102700|GARD:0005748|NCIT:C3962|EFO:0009147|SCTID:44940001														https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency				owl:Class
MONDO:0016671	biolink:NamedThing	sickle cell-hemoglobin E disease syndrome		mondoexuq1wtf	HbSE disease											ICD10:D57.2|UMLS:C0272085|Orphanet:251375																		owl:Class
MONDO:0032935	biolink:NamedThing	rhizomelic limb shortening with dysmorphic features		mondoexuq1wtf	RLSDF|RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES											OMIM:618821																		owl:Class
MONDO:0010941	biolink:NamedThing	nocturnal enuresis, 2	Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.	mondoexuq1wtf	enuresis, nocturnal, 2|ENUR2											MESH:C563439|UMLS:C1833268|OMIM:600808																		owl:Class
MONDO:0003435	biolink:NamedThing	microcystic adenoma	A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.	mondoexuq1wtf	microcystic adenoma (morphologic abnormality)|microcystic adenoma											DOID:5403|NCIT:C3685|ICDO:8202/0|UMLS:C0205648																		owl:Class
CL:0000771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009212	biolink:NamedThing	congenital factor X deficiency	Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.	mondoexuq1wtf	Stuart-Prower factor deficiency|hereditary Factor X deficiency|Stuart-Prower Factor deficiency|disease, Stuart-Prower|factor X deficiency|factor X deficiency, congenital|F10 deficiency|factor 10 deficiency|congenital Stuart factor deficiency|Stuart factor deficiency, congenital											ICD10:D68.2|GARD:0006404|ICD9:286.3|NCIT:C98940|Orphanet:328|OMIM:227600|DOID:2222|SCTID:37350004																		owl:Class
MONDO:0032712	biolink:NamedThing	combined oxidative phosphorylation deficiency 38		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38|COXPD38											OMIM:618378|DOID:0111466																		owl:Class
MONDO:0018946	biolink:NamedThing	rhombencephalosynapsis	Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.	mondoexuq1wtf												ICD10:Q04.3|Orphanet:59315|ICD9:742.4|UMLS:C1866130|SCTID:442300000																		owl:Class
MONDO:0014501	biolink:NamedThing	macular degeneration, early-onset		mondoexuq1wtf	EOMD|macular degeneration, early-onset											OMIM:616118|UMLS:C4015286																		owl:Class
MONDO:0013007	biolink:NamedThing	combined immunodeficiency due to ORAI1 deficiency	A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.	mondoexuq1wtf	CID due to ORAI1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 1|IMD9|immunodeficiency type 9|immunodeficiency 9											OMIM:612782|ICD10:D81.8|MESH:C557826|Orphanet:317428|UMLS:C2748568|GARD:0010524																		owl:Class
MONDO:0006702	biolink:NamedThing	chronic inflammatory demyelinating polyradiculoneuropathy	A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.	mondoexuq1wtf	CIDP|chronic relapsing polyneuropathy											ICD9:357.89|SCTID:128209004|DOID:5213|EFO:1000868|MESH:D020277|ICD9:357.81|ICD10:G61.81|MedDRA:10057645																		owl:Class
MONDO:0001138	biolink:NamedThing	angiodysplasia of intestine	A angiodysplasia that involves the intestine.	mondoexuq1wtf	intestine angiodysplasia											UMLS:C0267367|ICD9:569.85|ICD9:569.84|DOID:10846|COHD:196444|SCTID:235853006																		owl:Class
MONDO:0011693	biolink:NamedThing	glaucoma, normal tension, susceptibility to		mondoexuq1wtf	glaucoma, normal tension, susceptibility to|NTG|glaucoma, normal pressure, susceptibility to											OMIM:606657																		owl:Class
MONDO:0006042	biolink:NamedThing	meningeal tuberculosis	A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.	mondoexuq1wtf	TB meningitis											NCIT:C84888|MESH:D014390|UMLS:C0041318|GARD:0007828|EFO:1000039																		owl:Class
MONDO:0005696	biolink:NamedThing	central nervous system tuberculosis	A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.	mondoexuq1wtf	tuberculous abscess of brain|central nervous system tuberculosis|intracranial tuberculoma|tuberculosis of meninges and central nervous system|tuberculoma of brain											COHD:374267|DOID:1638|EFO:0007199|UMLS:C0085388|UMLS:C2607948|ICD9:013.20|ICD9:013.2|ICD9:013.35|SCTID:186217006																		owl:Class
MONDO:0004475	biolink:NamedThing	thymus clear cell carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.	mondoexuq1wtf	Thymus clear cell carcinoma|clear cell carcinoma of the Thymus|clear cell carcinoma of Thymus|thymic clear cell carcinoma|thymus clear cell carcinoma											UMLS:C1333069|NCIT:C6462|DOID:8137																		owl:Class
MONDO:0006018	biolink:NamedThing	Wissler syndrome	A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.	mondoexuq1wtf	Wissler's syndrome|Wissler-Fanconi syndrome (finding)|Wissler syndrome|Wissler's subsepsis allergica											UMLS:C0043195|MESH:D014924|EFO:0007547|DOID:3047																		owl:Class
MONDO:0020595	biolink:NamedThing	disease of retroperitoneum	A disease or disorder that involves the retroperitoneal space.	mondoexuq1wtf	retroperitoneal space disease or disorder|disorder of retroperitoneal space|retroperitoneal disorder|retroperitoneal disease|retroperitoneal space disease|disease or disorder of retroperitoneal space|disease of retroperitoneal space											SCTID:734045002|NCIT:C27667																		owl:Class
MONDO:0015839	biolink:NamedThing	septate uterus		mondoexuq1wtf												Orphanet:180122|SCTID:22504001|MedDRA:10062606|ICD10:Q51.2																		owl:Class
MONDO:0018055	biolink:NamedThing	pediatric hepatocellular carcinoma	Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.	mondoexuq1wtf	childhood carcinoma of the liver cell|pediatric liver cell carcinoma|pediatric HCC|childhood-onset HCC|childhood hepatoma|Pediatric carcinoma of the liver cell|childhood hepatocellular carcinoma|pediatric carcinoma of liver cell|hepatocellular cancer|childhood liver cell carcinoma|childhood-onset hepatocellular carcinoma|childhood carcinoma of liver cell|pediatric hepatoma											Orphanet:33402|UMLS:CN204349|NCIT:C7955|DOID:0070322|GARD:0009331|ICD10:C22.0																		owl:Class
MONDO:0005525	biolink:NamedThing	T-cell leukemia	A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.	mondoexuq1wtf	leukemia (disease) of T cell|T cell leukemia (disease)											MESH:D015458|EFO:0005592|UMLS:C0023492|DOID:715																		owl:Class
MONDO:0016204	biolink:NamedThing	idiopathic copper-associated cirrhosis	Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	mondoexuq1wtf	non-Wilsonian hepatic copper toxicosis of infancy and childhood											SCTID:715864007|Orphanet:209919|ICD10:K74.6																		owl:Class
MONDO:0008704	biolink:NamedThing	short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	mondoexuq1wtf	achondroplasia and Swiss type agammaglobulinemia|achondroplasia and Swiss-type agammaglobulinemia|agammaglobulinemia and achondroplasia|achondroplasia and severe combined immunodeficiency|achondroplasia-Swiss type agammaglobulinemia syndrome|achondroplasia so-called and severe combined immunodeficiency|Slsd with SCID|immunodeficiency-short limb dwarfism syndrome|achondroplasia-SCID syndrome|short-limb skeletal dysplasia with severe combined immunodeficiency|short limb skeletal dysplasia with SCID|SLSD with SCID|achondroplasia-severe combined immunodeficiency syndrome|achondroplasia, so-called, and severe combined immunodeficiency											ICD10:D82.2|UMLS:C1860168|Orphanet:935|GARD:0002988|MESH:C565984|GARD:0000463|OMIM:200900														https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency				owl:Class
MONDO:0014155	biolink:NamedThing	atrial fibrillation, familial, 13	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.	mondoexuq1wtf	atrial fibrillation, familial, 13|familial atrial fibrillation caused by mutation in SCN1B|SCN1B familial atrial fibrillation|atrial fibrillation, familial, type 13|ATFB13											OMIM:615377|UMLS:C3809311																		owl:Class
MONDO:0013121	biolink:NamedThing	glaucoma 3, primary congenital, C		mondoexuq1wtf	GLC3C|glaucoma 3, primary congenital, C											OMIM:613085																		owl:Class
MONDO:0010520	biolink:NamedThing	X-linked Alport syndrome	X-linked form of Alport syndrome.	mondoexuq1wtf	nephropathy and deafness, X-linked|ATS|hemorrhagic familial nephritis|Alport syndrome, X-linked|congenital hereditary hematuria|hemorrhagic hereditary nephritis											DOID:0110034|MedDRA:10001843|ICD10:Q87.8|SCTID:717768004|GARD:0005785|OMIM:301050|Orphanet:88917																		owl:Class
MONDO:0004420	biolink:NamedThing	breast malignant eccrine spiradenoma	A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.	mondoexuq1wtf	malignant spiradenoma of breast|breast malignant spiradenoma|malignant eccrine spiradenoma of breast|malignant breast eccrine spiradenoma|malignant eccrine spiradenoma of the breast											DOID:7983|NCIT:C5180|UMLS:C1334565																		owl:Class
MONDO:0010984	biolink:NamedThing	Usher syndrome type 1D	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	Usher syndrome type 1D|Usher syndrome, type 1D|USH1D|Usher syndrome type ID|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|USHER syndrome, type ID|Ush1D/F, Cdh23/Pcdh15, digenic											GARD:0005438|ICD10:H35.5|OMIM:601067|DOID:0110831														https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d				owl:Class
MONDO:0001695	biolink:NamedThing	senile ectropion		mondoexuq1wtf	involutional ectropion											ICD9:374.11|UMLS:C0155193|DOID:13356|COHD:372325|SCTID:71659009																		owl:Class
MONDO:0002043	biolink:NamedThing	ectropion	The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)	mondoexuq1wtf	ectropion of eyelid|ectropion|everted margin|ectropion (disease)		ectropion (disease)									ICD10:H02.1|ICD9:374.10|MESH:D004483|ICD10:H02.109|ICD10:H02.10|DOID:1570|HP:0000656|COHD:376132|UMLS:C0013592|SCTID:62909004|ICD9:374.1																		owl:Class
MONDO:0008790	biolink:NamedThing	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism		mondoexuq1wtf	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism											UMLS:C1859785|MESH:C565952|OMIM:206400																		owl:Class
MONDO:0000105	biolink:NamedThing	anemia, nonspherocytic hemolytic		mondoexuq1wtf												DC:0000470																		owl:Class
MONDO:0023175	biolink:NamedThing	Fontaine farriaux blanckaert syndrome		mondoexuq1wtf												GARD:0002358														https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome				owl:Class
MONDO:0043988	biolink:NamedThing	zoster sine herpete	Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.	mondoexuq1wtf	zoster sine herpete|Zoster sine Eruptione											UMLS:C1135841|SCTID:449783002|MESH:D031368|EFO:1001827																		owl:Class
MONDO:0018879	biolink:NamedThing	lichen planopilaris	Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.	mondoexuq1wtf	Kossard disease|Lpp|lichen planopilaris classic type|lichen follicularis|follicular lichen planus|frontal fibrosing alopecia (subtype)|lichen planus follicularis											COHD:4276173|MESH:C535892|UMLS:C0023645|GARD:0003247|Orphanet:525|SCTID:64540004|ICD10:L66.1																		owl:Class
MONDO:0010586	biolink:NamedThing	X-linked Ehlers-Danlos syndrome	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.	mondoexuq1wtf	Ehlers-Danlos syndrome, type 5|EDS5|Ehlers-Danlos syndrome, type V|EDS 5|Ehlers-Danlos syndrome, X-linked|EDS V|Ehlers-Danlos syndrome type 5											MESH:C536197|ICD10:Q79.6|OMIM:305200|UMLS:C0268341|NCIT:C141423|SCTID:67202007|Orphanet:75497																		owl:Class
MONDO:0011628	biolink:NamedThing	propionic acidemia	Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.	mondoexuq1wtf	ketotic hyperglycinemia|propionic aciduria|ketotic II glycinemia|propionic acidemia|propionyl-Coa carboxylase deficiency|hyperglycinemia with ketoacidosis and leukopenia|PCC deficiency|GLYCINEMIA, ketotic|Propionicacidemia|prop|Glycinemia, ketotic|ketotic glycinemia|propionyl-CoA carboxylase deficiency											NCIT:C85030|UMLS:C0268579|DOID:14701|ICD10:E71.1|MESH:D056693|Orphanet:35|SCTID:69080001|OMIM:606054|ICD10:E71.121|GARD:0000467														https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia				owl:Class
MONDO:0021957	biolink:NamedThing	autosomal recessive nonsyndromic congenital nuclear cataract		mondoexuq1wtf	congenital nuclear cataract, autosomal recessive											GARD:0009492|UMLS:C2931470|MESH:C537298														https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract				owl:Class
MONDO:0032904	biolink:NamedThing	corneal dystrophy, Meesmann, 2		mondoexuq1wtf	MECD2|CORNEAL DYSTROPHY, MEESMANN, 2											OMIM:618767																		owl:Class
MONDO:0010965	biolink:NamedThing	autosomal recessive nonsyndromic deafness 6	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.	mondoexuq1wtf	neurosensory nonsyndromic recessive deafness 6|DFNB6|deafness, autosomal recessive 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|autosomal recessive nonsyndromic deafness type 6|TMIE autosomal recessive nonsyndromic deafness|autosomal recessive deafness 6|deafness, autosomal recessive type 6											ICD10:H90.3|UMLS:C1832992|OMIM:600971|DOID:0110512|MESH:C563418																		owl:Class
MONDO:0016616	biolink:NamedThing	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies		mondoexuq1wtf	pauciarticular chronic arthritis without anti-nuclear antibodies|oligoarticular JIA without anti-nuclear antibodies											ICD10:M08.4|UMLS:CN201824|Orphanet:247846																		owl:Class
MONDO:0021902	biolink:NamedThing	aortopulmonary window	A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.	mondoexuq1wtf	AP window|APSD|aorto-pulmonary window|aortopulmonary window|APW|aortic-pulmonary window|aortopulmonary septal defect					Editor note: NCIT treats as disease but consider obsoleting in favor og HP						GARD:0000745|HP:0011604|NCIT:C101050|SCTID:17024001|MESH:D001028														https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window				owl:Class
MONDO:0013558	biolink:NamedThing	Hermansky-Pudlak syndrome 6	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 6|Hermansky-Pudlak syndrome 6											OMIM:614075|DOID:0060544|NCIT:C150369|UMLS:C3888007																		owl:Class
MONDO:0006586	biolink:NamedThing	neurotic excoriation	A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.	mondoexuq1wtf	dermatitis ficta|factitious skin disease|dermatitis factitia|dermatitis factitia [artefacta]|dermatitis artefacta											EFO:1000741|DOID:9165|UMLS:C1274184|ICD10:L98.1|Wikipedia:Neurotic_excoriations|SCTID:402736003|ICD9:698.4|ICD9:300.19																		owl:Class
MONDO:0006301	biolink:NamedThing	metanephric adenoma	A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.	mondoexuq1wtf	metanephric adenoma (morphologic abnormality)|metanephric adenoma											ICDO:8191/0|DOID:6404|EFO:1000373|NCIT:C27253|UMLS:C1266045|ICDO:8325/0																		owl:Class
MONDO:0002395	biolink:NamedThing	renal adenoma	An adenoma arising from the renal cortex.	mondoexuq1wtf	renal adenoma|kidney adenoma|adenoma, renal cell, benign|renal cell adenoma|renal tubule adenoma|renal cell adenoma (morphologic abnormality)											DOID:2697|NCIT:C8383|UMLS:C0334684																		owl:Class
MONDO:0014234	biolink:NamedThing	reticulate acropigmentation of Kitamura	A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.	mondoexuq1wtf	Kitamura reticulate acropigmentation|reticulate acropigmentation of Kitamura|RAK|RAPK|acropigmentatio reticularis|reticulate pigmentation of Kitamura											Orphanet:178307|OMIM:615537|SCTID:239133004|ICD9:709.09|ICD10:L81.8|DOID:0060258																		owl:Class
MONDO:0030867	biolink:NamedThing	thrombocytopenia 7		mondoexuq1wtf	thrombocytopenia 7|Thrombocytopenia, Autosomal Dominant, 7|THC7											OMIM:619130																		owl:Class
MONDO:0015606	biolink:NamedThing	Xp22.3 microdeletion syndrome	Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.	mondoexuq1wtf	Del(X)(p23)											ICD10:Q99.8|SCTID:726733007|UMLS:CN199978|GARD:0013170|Orphanet:1643														https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome				owl:Class
MONDO:0017004	biolink:NamedThing	partial monosomy of the short arm of chromosome X		mondoexuq1wtf	partial monosomy of the short arm of chromosome type X|partial deletion of the short arm of chromosome X|partial deletion of chromosome Xp|partial monosomy of chromosome Xp											ICD10:Q99.8|Orphanet:263731																		owl:Class
MONDO:0016746	biolink:NamedThing	meningeal melanocytoma	A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.	mondoexuq1wtf	meninges melanocytoma|melanocytoma of the meninges|melanocytoma of meninges|leptomeningeal melanocytoma											NCIT:C4662|DOID:5900|UMLS:C1266113|Orphanet:252046|ICDO:8728/1|EFO:1000370|SCTID:277527003																		owl:Class
MONDO:0015082	biolink:NamedThing	alopecia antibody deficiency		mondoexuq1wtf	IPP-Gelfand syndrome											Orphanet:1006																		owl:Class
MONDO:0003888	biolink:NamedThing	childhood testicular mixed embryonal carcinoma and teratoma	A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.	mondoexuq1wtf	childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma|childhood teratocarcinoma of the testis											NCIT:C6539|UMLS:C1333008|DOID:6474																		owl:Class
MONDO:0011532	biolink:NamedThing	hereditary spastic paraplegia 13	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.	mondoexuq1wtf	SPG13|HSPD1 hereditary spastic paraplegia|hereditary spastic paraplegia type 13|autosomal dominant spastic paraplegia 13|autosomal dominant spastic paraplegia type 13|hereditary spastic paraplegia caused by mutation in HSPD1|spastic paraplegia 13, autosomal dominant|spastic paraplegia 13											OMIM:605280|DOID:0110766|ICD10:G11.4|GARD:0009616|Orphanet:100994|UMLS:C1854467|MESH:C537485																		owl:Class
MONDO:0013800	biolink:NamedThing	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.	mondoexuq1wtf	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|EDS, kyphoscoliotic and hearing loss type|EDSKMH|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|EDS with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|EDSKSCL2|EDS with progressive kyphoscoliosis, myopathy, and hearing loss											Orphanet:300179|UMLS:C3281160|SCTID:720859009|ICD10:Q79.6|OMIM:614557																		owl:Class
MONDO:0005547	biolink:NamedThing	desmoplastic medulloblastoma	A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.	mondoexuq1wtf												EFO:0005699																		owl:Class
MONDO:0003315	biolink:NamedThing	endometrium carcinoma in situ	A carcinoma in situ involving a endometrium.	mondoexuq1wtf	endometrial carcinoma in situ|endometrium in situ carcinoma|carcinoma in situ of endometrium|stage 0 endometrium carcinoma											ICD9:233.2|SCTID:92582009|DOID:5172|UMLS:C0346191|ICD10:D07.0																		owl:Class
MONDO:0011908	biolink:NamedThing	juvenile myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)	mondoexuq1wtf	juvenile chronic myelomonocytic leukemia|juvenile chronic myeloid leukemia|leukemia, juvenile myelomonocytic|JCML|chronic myelomonocytic leukemia|juvenile myelomonocytic leukemia|JMML|juvenile chronic myelogenous leukemia|leukemia, chronic myelomonocytic											GARD:0009884|Orphanet:86834|ICD10:C93.3|OMIM:607785|MedDRA:10023249|UMLS:C0349639|ONCOTREE:JMML|EFO:1000309|NCIT:C9233|ICDO:9946/3|MESH:D054429|ICD10:C93.30|DOID:0050458|SCTID:445227008																		owl:Class
MONDO:0011553	biolink:NamedThing	autosomal recessive nonsyndromic deafness 26	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.	mondoexuq1wtf	autosomal recessive deafness 26|DFNB26|autosomal recessive nonsyndromic deafness type 26|deafness, autosomal recessive 26											MESH:C565329|OMIM:605428|DOID:0110484|ICD10:H90.3|UMLS:C1854275																		owl:Class
MONDO:0015271	biolink:NamedThing	idiopathic camptocormia	Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.	mondoexuq1wtf	bent spine|camptocormism|idiopathic progressive lumbar kyphosis|camptocormia|bent spine syndrome|idiopathic camptocormism											MedDRA:10069646|Orphanet:1320|SCTID:13534001|GARD:0001063|ICD10:M43.8|MESH:C537968																		owl:Class
MONDO:0014185	biolink:NamedThing	chromosome 3q13.31 deletion syndrome	3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.	mondoexuq1wtf	monosomy 3q13|chromosome 3q13.31 deletion syndrome|Del(3)(q13)|3q13 microdeletion syndrome											ICD10:Q93.5|UMLS:CN036884|DOID:0060418|SCTID:726705007|MESH:C536808|OMIM:615433|UMLS:C3809490|Orphanet:1621																		owl:Class
MONDO:0006450	biolink:NamedThing	therapy-related myeloid neoplasm	Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.	mondoexuq1wtf	therapy-related myeloid neoplasms|therapy-related myeloid neoplasm|TMN|therapy-related acute myeloid leukemia and myelodysplastic syndrome|therapy-related AML and MDS|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related											NCIT:C27912|EFO:1000575|ONCOTREE:TMN|ICDO:9920/3																		owl:Class
MONDO:0015017	biolink:NamedThing	anterior segment dysgenesis 8	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.	mondoexuq1wtf	ASGD8|anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis 8|anterior segment dysgenesis type 8|CPAMD8 anterior segment dysgenesis											UMLS:C4310622|OMIM:617319|DOID:0080613																		owl:Class
MONDO:0003925	biolink:NamedThing	ethmoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	mondoexuq1wtf	inverted papilloma of ethmoid sinus|ethmoid sinus inverted papilloma|inverted papilloma of the ethmoid sinus											DOID:6562|NCIT:C6843|UMLS:C1333474																		owl:Class
MONDO:0007216	biolink:NamedThing	brachydactyly type A2	Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.	mondoexuq1wtf	brachydactyly, type A2|Brachymesophalangy type 2|Brachymesophalangy 2|BDA2|brachydactyly, Mohr-Wriedt type|brachymesophalangy II|Mohr-Wriedt type brachydactyly											DOID:0110965|GARD:0000989|GARD:0000979|ICD10:Q73.8|OMIM:112600|MESH:C537089|SCTID:720569006|Orphanet:93396														https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2|https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2				owl:Class
MONDO:0015174	biolink:NamedThing	autoimmune enteropathy type 3		mondoexuq1wtf												ICD10:K52.8|UMLS:CN226617|Orphanet:103917																		owl:Class
MONDO:0002888	biolink:NamedThing	intraorbital meningioma	A meningioma that affects the intraorbital structures.	mondoexuq1wtf	intraorbital meningioma											NCIT:C6778|DOID:4141|UMLS:C1334261																		owl:Class
MONDO:0014498	biolink:NamedThing	familial cold autoinflammatory syndrome 4	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.	mondoexuq1wtf	NLRC4-related familial cold autoinflammatory syndrome|NLRC4 familial cold autoinflammatory syndrome|FCAS4|familial cold autoinflammatory syndrome type 4|familial cold autoinflammatory syndrome caused by mutation in NLRC4|familial cold autoinflammatory syndrome 4											OMIM:616115|UMLS:C4015276|DOID:0090065|ICD10:L50.2|Orphanet:576349																		owl:Class
MONDO:0024538	biolink:NamedThing	basal ganglia calcification, idiopathic, 1		mondoexuq1wtf	Fahr disease, familial, formerly|striopallidodentate calcinosis, bilateral|idiopathic basal ganglia calcification 1|striopallidodentate calcinosis, autosomal dominant, adult-onset|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|IBGC1|basal ganglia calcification, idiopathic, 1|basal ganglia calcification, idiopathic, 3, formerly|Fahr disease, familial|ferrocalcinosis, cerebrovascular|basal ganglia calcification, idiopathic, 3|basal ganglia calcification, idiopathic, type 1											NCIT:C129973|OMIM:213600|UMLS:C0393590																		owl:Class
MONDO:0012352	biolink:NamedThing	vasculitis, lymphocytic, cutaneous small vessel		mondoexuq1wtf	vasculitis, lymphocytic, cutaneous small vessel											UMLS:C1853293|MESH:C565222|OMIM:609817																		owl:Class
MONDO:0007840	biolink:NamedThing	internal carotid artery, spontaneous dissection of		mondoexuq1wtf	internal carotid artery, spontaneous dissection of											MESH:C564125|UMLS:C1840073|OMIM:147820																		owl:Class
MONDO:0021172	biolink:NamedThing	Timothy syndrome type 2 (disorder)	Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.	mondoexuq1wtf	Timothy syndrome, atypical type											SCTID:719907006|UMLS:C4304347																		owl:Class
MONDO:0009855	biolink:NamedThing	d-bifunctional protein deficiency	A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.	mondoexuq1wtf	DBP deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|bifunctional enzyme deficiency|pseudo-Zellweger syndrome|HSD17B4 deficiency|d-bifunctional protein deficiency|multifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase IV deficiency|Pbfe deficiency|D-bifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase 4 deficiency|peroxisomal bifunctional enzyme deficiency|peroxisomal multifunctional enzyme deficiency											UMLS:C1533628|Orphanet:300|ICD10:E71.3|UMLS:CN203333|NCIT:C119676|UMLS:C0342870|OMIM:261515|DOID:0090031|SCTID:238068007|GARD:0004539|ICD9:277.6														https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency|https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0007297	biolink:NamedThing	ADan amyloidosis	A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	mondoexuq1wtf	cerebellar ataxia, cataract, deafness, and dementia or psychosis|cerebral amyloid angiopathy, ITM2B-RELATED, 2|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|familial Danish dementia|Heredopathia Ophthalmootoencephalica|dementia, familial Danish|cerebral amyloid angiopathy, ITM2B-related, type 2|FDD|familial dementia, Danish type|HOOE|ITM2B-related cerebral amyloid angiopathy 2											ICD10:I68.0*|ICD10:E85.4+|GARD:0009169|OMIM:117300|DOID:0070030|UMLS:C1861735|MESH:C538209|Orphanet:97346																		owl:Class
MONDO:0021210	biolink:NamedThing	trachea neoplasm	A neoplasm (disease) that involves the trachea.	mondoexuq1wtf	neoplasm of the trachea|trachea tumor|tracheal neoplasm|tumor of trachea|tumor of the trachea|trachea neoplasm (disease)|tracheal tumor|neoplasm of trachea											HP:0100551|GTR:AN0505660|UMLS:C0040582|NCIT:C3419|MESH:D014134|GTR:AN0481062|EFO:1001437																		owl:Class
MONDO:0020414	biolink:NamedThing	persistent fifth aortic arch		mondoexuq1wtf												Orphanet:99076|ICD10:Q25.4																		owl:Class
MONDO:0009498	biolink:NamedThing	lethal Kniest-like dysplasia	Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.	mondoexuq1wtf	arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal|Kniest-like dysplasia, lethal											Orphanet:2347|ICD10:Q77.8|GARD:0003124|OMIM:245190|MESH:C537208|UMLS:C1855605														https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal				owl:Class
MONDO:0013476	biolink:NamedThing	hypertrophic cardiomyopathy 19	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.	mondoexuq1wtf	cardiomyopathy familial hypertrophic 19|cardiomyopathy, familial hypertrophic, 19|cardiomyopathy, familial hypertrophic, type 19|hypertrophic cardiomyopathy caused by mutation in CALR3|hypertrophic cardiomyopathy type 19|CMH19|CALR3 hypertrophic cardiomyopathy											DOID:0110325|OMIM:613875|UMLS:C3151266																		owl:Class
MONDO:0015545	biolink:NamedThing	macrophage activation syndrome	A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.	mondoexuq1wtf	MAS|reactive hemophagocytic lymphohistiocytosis											NCIT:C114471|EFO:1001806|Orphanet:158061|GARD:0012124|MedDRA:10053867|SCTID:430478003|UMLS:C1096155|MESH:D055501														https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome				owl:Class
MONDO:0015542	biolink:NamedThing	secondary hemophagocytic lymphohistiocytosis	Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	mondoexuq1wtf	reactive hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis|acquired hemophagocytic syndrome											UMLS:C4054044|NCIT:C121184|UMLS:C0019068|UMLS:CN199700|Orphanet:158041																		owl:Class
MONDO:0400002	biolink:NamedThing	calcium-alkali syndrome	The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.	mondoexuq1wtf	milk-alkali syndrome																													owl:Class
MONDO:0016873	biolink:NamedThing	partial deletion of chromosome 8		mondoexuq1wtf	partial monosomy of chromosome 8|partial deletion of chromosome type 8											ICD10:Q93.5|Orphanet:261801																		owl:Class
MONDO:0004299	biolink:NamedThing	infiltrating bladder lymphoepithelioma-like carcinoma		mondoexuq1wtf	infiltrating bladder lymphoepithelioma-like carcinoma											EFO:1000302|NCIT:C39821|DOID:7600|UMLS:C1512736																		owl:Class
MONDO:0008566	biolink:NamedThing	thyroid cancer, nonmedullary, 2		mondoexuq1wtf	NMTC2|FTC|thyroid cancer, nonmedullary, 2|thyroid cancer, follicular|thyroid cancer, nonmedullary, type 2|thyroid carcinoma, follicular											GARD:0005206|OMIM:188470|MESH:C572845																		owl:Class
MONDO:0020795	biolink:NamedThing	Silver-Russell syndrome 5		mondoexuq1wtf	SILVER-RUSSELL SYNDROME 5|SRS5											OMIM:618908																		owl:Class
MONDO:0007877	biolink:NamedThing	laryngeal adductor paralysis		mondoexuq1wtf	LAP|laryngeal adductor paralysis|vocal cord dysfunction, adductor type											OMIM:150270|MESH:C562861																		owl:Class
MONDO:0016862	biolink:NamedThing	Alagille syndrome due to a JAG1 point mutation		mondoexuq1wtf	Alagille-Watson syndrome|hepatic ductular hypoplasia, syndromatic|syndromic bile duct paucity due to a JAG1 point mutation|ALGS1|cholestasis with peripheral pulmonary stenosis|Alagille-Watson syndrome due to a JAG1 point mutation|Alagille syndrome type 1|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille syndrome 1|arteriohepatic dysplasia											OMIM:118450|UMLS:CN202206|ICD10:Q44.7|Orphanet:261619|UMLS:C1956125																		owl:Class
MONDO:0010509	biolink:NamedThing	intellectual disability, X-linked 104	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.	mondoexuq1wtf	MRX104|FRMPD4 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|intellectual disability, X-linked 104|intellectual disability, X-linked type 104|mental retardation, X-linked type 104|mental retardation, X-linked 104											OMIM:300983|UMLS:C4310817																		owl:Class
MONDO:0012995	biolink:NamedThing	myopia 15, autosomal dominant		mondoexuq1wtf	MYP15|myopia 15, autosomal dominant											MESH:C567193|OMIM:612717|UMLS:C2675180																		owl:Class
MONDO:0012001	biolink:NamedThing	mandibulofacial dysostosis with ptosis, autosomal dominant		mondoexuq1wtf	mandibulofacial dysostosis with ptosis, autosomal dominant											UMLS:C1842349|OMIM:608257|MESH:C564267																		owl:Class
MONDO:0034186	biolink:NamedThing	autosomal recessive extra-oral halitosis		mondoexuq1wtf												Orphanet:562538																		owl:Class
MONDO:0016921	biolink:NamedThing	partial duplication of chromosome 1		mondoexuq1wtf	partial trisomy of chromosome 1|partial duplication of chromosome type 1											SCTID:726338000|Orphanet:262191																		owl:Class
MONDO:0021012	biolink:NamedThing	susceptibility to visceral leishmaniasis, 1		mondoexuq1wtf	kala-Azar, susceptibility to, 1|KAZA1|leishmaniasis, visceral, susceptibility to, 1											OMIM:608207																		owl:Class
MONDO:0000261	biolink:NamedThing	adenoiditis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.	mondoexuq1wtf	pharyngeal tonsilitis|inflammation of pharyngeal tonsil|pharyngeal tonsil inflammation|chronic adenoiditis											SCTID:70020005|ICD10:J35.02|ICD9:474.01|COHD:439851|UMLS:C0001427|UMLS:C0396023|DOID:0050145																		owl:Class
MONDO:0022735	biolink:NamedThing	choroid plexus cyst		mondoexuq1wtf	CPC - choroid plexus cyst|choroid plexus cyst											GARD:0001309|NCIT:C4351|SCTID:230790004														https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst				owl:Class
MONDO:0020959	biolink:NamedThing	Mansonella ozzardi infection	An infection that is caused by the organism Mansonella ozzardi.	mondoexuq1wtf	filariasis ozzardi|Filariasis ozzardi|Ozzardian filariasis|mansonella ozzardi infection											ICD9:125.5|NCIT:C34612|SCTID:30865009|UMLS:C0016089																		owl:Class
MONDO:0015235	biolink:NamedThing	arachnodactyly-intellectual disability-dysmorphism syndrome	Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.	mondoexuq1wtf	De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism											SCTID:720502000|Orphanet:1130|GARD:0000764|ICD10:Q87.8|UMLS:CN197590																		owl:Class
MONDO:0019528	biolink:NamedThing	IgG4-related hepatopathy	Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.	mondoexuq1wtf	inflammatory pseudotumor of the liver											ICD10:K75.8|Orphanet:90003																		owl:Class
MONDO:0014693	biolink:NamedThing	Noonan syndrome 10	Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.	mondoexuq1wtf	Noonan syndrome 10|NS10|Noonan syndrome caused by mutation in LZTR1|LZTR1 Noonan syndrome|Noonan syndrome type 10											OMIM:616564|DOID:0060588|UMLS:C4225280																		owl:Class
MONDO:0037256	biolink:NamedThing	serous neoplasm		mondoexuq1wtf	serous neoplasm											UMLS:C1335951|NCIT:C7074																		owl:Class
MONDO:0023143	biolink:NamedThing	fetal enterovirus syndrome		mondoexuq1wtf												GARD:0002302														https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome				owl:Class
MONDO:0005985	biolink:NamedThing	Togaviridae infectious disease	Virus diseases caused by the togaviridae.	mondoexuq1wtf	Togaviridae disease or disorder|Togaviridae caused disease or disorder											UMLS:C0040361|GARD:0007776|EFO:0007513|MESH:D014036																		owl:Class
MONDO:0032699	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 15		mondoexuq1wtf	EIG15|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15											DOID:0111316|OMIM:618357																		owl:Class
MONDO:0600014	biolink:NamedThing	alveolar capillary dysplasia without misalignment of pulmonary veins	A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.	mondoexuq1wtf	ACD without misalignment							http://orcid.org/0000-0002-5460-8025																		https://github.com/monarch-initiative/mondo/issues/3026|https://github.com/monarch-initiative/mondo/pull/3186				owl:Class
MONDO:0006392	biolink:NamedThing	rectal hyperplastic polyp	A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.	mondoexuq1wtf	rectal Hp|rectal MP|hyperplastic polyp of rectum|hyperplastic polyp of the rectum|rectal metaplastic polyp											UMLS:C1335679|NCIT:C5619|EFO:1000502																		owl:Class
MONDO:0001927	biolink:NamedThing	pulmonary valve insufficiency	Dysfunction of the pulmonary valve characterized by incomplete valve closure.	mondoexuq1wtf	pulmonary valvular regurgitation|pulmonary valve regurgitation|pulmonary incompetence|pulmonary insufficiency following trauma and surgery|pulmonary regurg.|pulmonic valve regurgitation|regurgitation, pulmonary|pulmonary incompetence, non-rheumatic|pulmonary regurgitation|pulmonic insufficiency											SCTID:194995005|DOID:14265|NCIT:C50848|MESH:D011665																		owl:Class
MONDO:0001179	biolink:NamedThing	pinguecula	A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.	mondoexuq1wtf												ICD10:H11.15|ICD9:372.51|EFO:1001824|SCTID:87614000|COHD:376124|UMLS:C0152255|MESH:D059407|DOID:11029																		owl:Class
MONDO:0009751	biolink:NamedThing	neuropathy, hereditary sensory, atypical	A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.	mondoexuq1wtf	neuropathy, hereditary sensory, atypical|atypical hereditary sensory neuropathy											DOID:0070160|UMLS:C1850384|OMIM:256860|MESH:C564946																		owl:Class
MONDO:0008206	biolink:NamedThing	benign paroxysmal tonic upgaze of childhood with ataxia	Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	mondoexuq1wtf	Ouvrier Billson syndrome|paroxysmal tonic upgaze, benign childhood, with ataxia|Ouvrier-Billson syndrome											ICD10:G96.8|GARD:0004176|UMLS:C1868576|SCTID:763127004|MESH:C566817|OMIM:168885|Orphanet:1179																		owl:Class
MONDO:0004629	biolink:NamedThing	subacute delirium		mondoexuq1wtf												DOID:8645|SCTID:191507002|COHD:379779|ICD9:293.1																		owl:Class
MONDO:0018713	biolink:NamedThing	retiform hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.	mondoexuq1wtf	hobnail hemangioendothelioma|retiform hemangioendothelioma											SCTID:403982005|NCIT:C27511|UMLS:C1304512|UMLS:CN242097|ICD10:D18.0|Orphanet:458763																		owl:Class
MONDO:0021298	biolink:NamedThing	carcinoma in situ of oropharynx	A in situ carcinoma that involves the oropharynx.	mondoexuq1wtf	carcinoma in situ of oropharynx|stage 0 oropharynx carcinoma|oropharyngeal cancer stage 0|stage 0 carcinoma of the oropharynx|oropharynx carcinoma in situ|stage 0 oropharyngeal carcinoma|stage 0 oropharyngeal carcinoma aJCC v6 and v7|stage 0 carcinoma of oropharynx|oropharynx in situ carcinoma|oropharyngeal carcinoma in situ|stage 0 oropharyngeal cancer|stage 0 oropharyngeal carcinoma aJCC v6|stage 0 oropharyngeal carcinoma aJCC v7|stage 0 oropharyngeal throat cancer|carcinoma in situ of the oropharynx|stage 0 oropharyngeal carcinoma in situ											UMLS:C0347099|SCTID:92668003|NCIT:C4590																		owl:Class
MONDO:0024335	biolink:NamedThing	retrobulbar neuritis		mondoexuq1wtf												SCTID:230507009																		owl:Class
MONDO:0024265	biolink:NamedThing	Duane syndrome type 1	Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.	mondoexuq1wtf	Duane retraction syndrome 1|Duane anomaly|Duane syndrome|Drs|retraction syndrome|DURS1											SCTID:128082002|OMIM:126800|GARD:0010763														https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1				owl:Class
MONDO:0017729	biolink:NamedThing	metachromatic leukodystrophy, late infantile form		mondoexuq1wtf	MLD, late infantile form|arylsulfatase A deficiency, late infantile form											Orphanet:309256|ICD10:E75.2																		owl:Class
MONDO:0001031	biolink:NamedThing	purulent acute otitis media	Acute form of suppurative otitis media.	mondoexuq1wtf	acute suppurative otitis media|suppurative otitis media, acute											COHD:439264|DOID:10435|ICD9:382.02|SCTID:194281003|UMLS:C0271431																		owl:Class
MONDO:0013213	biolink:NamedThing	hearing loss, cisplatin-induced, susceptibility to		mondoexuq1wtf	hearing loss, cisplatin-induced, susceptibility to|CIHL											OMIM:613290																		owl:Class
MONDO:0018708	biolink:NamedThing	squamous cell carcinoma of the oral tongue		mondoexuq1wtf	oral tongue squamous cell carcinoma|OTSCC											ICD10:C02.4|ICD10:C02.3|ICD10:C02.8|Orphanet:457252|ICD10:C02.0|ICD10:C02.2|ICD10:C02.1|UMLS:CN242132																		owl:Class
MONDO:0019634	biolink:NamedThing	familial nasal acilia	Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.	mondoexuq1wtf												SCTID:763532008|ICD10:Q30.8|UMLS:CN206502|GARD:0002254|Orphanet:922														https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia				owl:Class
MONDO:0013959	biolink:NamedThing	Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.	mondoexuq1wtf	CMT4F|PRX Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Charcot-Marie-Tooth disease, demyelinating, type 4F|Prx Charcot-Marie-Tooth disease type 4											UMLS:C3540453|GARD:0012441|Orphanet:99952|SCTID:715801001|DOID:0110193|OMIM:614895|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f				owl:Class
MONDO:0010895	biolink:NamedThing	ABCD syndrome	An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).	mondoexuq1wtf	albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCDS|ABCD syndrome											DOID:0050600|UMLS:CN206498|Orphanet:918|UMLS:C1838099|OMIM:600501|MESH:C535334																		owl:Class
MONDO:0018611	biolink:NamedThing	early-onset lamellar cataract		mondoexuq1wtf												UMLS:CN237647|Orphanet:441452																		owl:Class
MONDO:0001902	biolink:NamedThing	congenital agammaglobulinemia	An instance of agammaglobulinemia that is present from birth.	mondoexuq1wtf	congenital agammaglobulinemia|congenital hypogammaglobulinaemia|congenital hypogammaglobulinemia (finding)											ICD9:279.04|DOID:14177|UMLS:C1457897																		owl:Class
MONDO:0001441	biolink:NamedThing	pica disease	An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.	mondoexuq1wtf	Pica eating disorder|Pica											MESH:D010842|ICD9:307.52|DOID:12128|SCTID:14077003|NCIT:C92566																		owl:Class
MONDO:0026771	biolink:NamedThing	developmental and epileptic encephalopathy, 85, with or without midline brain defects		mondoexuq1wtf	DEE85, with or without midline brain defects|epileptic encephalopathy, early infantile, 85, with or without midline brain defects|EIEE85											OMIM:301044																		owl:Class
MONDO:0004753	biolink:NamedThing	mechanical strabismus		mondoexuq1wtf						May be ceded to HPO						ICD9:378.6|DOID:9306|SCTID:5371001|ICD10:H50.6|ICD10:H50.60|COHD:378157|UMLS:C0152223|ICD9:378.60																		owl:Class
MONDO:0013477	biolink:NamedThing	hypertrophic cardiomyopathy 20	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, type 20|cardiomyopathy familial hypertrophic 20|cardiomyopathy, familial hypertrophic, 20|hypertrophic cardiomyopathy type 20|hypertrophic cardiomyopathy caused by mutation in NEXN|NEXN hypertrophic cardiomyopathy|CMH20											DOID:0110326|UMLS:C3151267|OMIM:613876																		owl:Class
MONDO:0014644	biolink:NamedThing	hereditary spastic paraplegia 74	Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.	mondoexuq1wtf	spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia caused by mutation in IBA57|autosomal recessive spastic paraplegia type 74|IBA57 hereditary spastic paraplegia|SPG74|autosomal recessive spastic paraplegia 74|hereditary spastic paraplegia type 74											OMIM:616451|DOID:0110819|UMLS:C4225322|Orphanet:468661																		owl:Class
MONDO:0032923	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 28		mondoexuq1wtf	SCAR28|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28											OMIM:618800																		owl:Class
MONDO:0018084	biolink:NamedThing	Uhl anomaly	Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.	mondoexuq1wtf	parchment right ventricle|Uhl's anomaly					Editor note: check xrefs						Orphanet:3403|GARD:0005393|MedDRA:10048951|ICD10:Q24.8|MESH:C536932																		owl:Class
MONDO:0012980	biolink:NamedThing	endocrine-cerebro-osteodysplasia syndrome	Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	mondoexuq1wtf	endocrine-CEREBROOSTEODYSPLASIA|ECO|ECO syndrome											DOID:0060641|ICD10:Q87.8|OMIM:612651|Orphanet:199332|UMLS:C2675227|UMLS:C4509819|SCTID:723309006|MESH:C567210																		owl:Class
MONDO:0008376	biolink:NamedThing	retinal venous beading		mondoexuq1wtf	retinal venous beading											OMIM:180080																		owl:Class
MONDO:0012219	biolink:NamedThing	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type		mondoexuq1wtf	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type											UMLS:C1836584|OMIM:609223|MESH:C563772																		owl:Class
MONDO:0011342	biolink:NamedThing	SLC35A1-CDG	SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.	mondoexuq1wtf	CDG syndrome type IIf|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|congenital disorder of glycosylation type IIf|CMP-sialic acid transporter deficiency|CDG IIf|SLC35A1-CDG (CDG-IIf)|congenital disorder of glycosylation type 2f|CDG-IIf|congenital disorder of glycosylation, type IIf											MESH:C567040|DOID:0070258|UMLS:C1970344|SCTID:723624008|Orphanet:238459|ICD10:E77.8|GARD:0012409|OMIM:603585																		owl:Class
MONDO:0022349	biolink:NamedThing	congenital absence of septum pellucidum	The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.	mondoexuq1wtf	absence of septum pellucidum					Editor note: consider representing as finding						GARD:0009253|MESH:C535562|ICD9:742.4|SCTID:253143001														https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum				owl:Class
MONDO:0008552	biolink:NamedThing	platelet-type bleeding disorder 16	An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.	mondoexuq1wtf	Glanzmann thrombasthenia, autosomal dominant|BDPLT16|autosomal dominant thrombasthenia of Glanzmann and Naegeli|bleeding disorder, platelet-type, 16|thrombasthenia of Glanzmann and Naegeli, autosomal dominant|autosomal dominant Glanzmann thrombasthenia											ICD10:D69.4|DOID:0060691|OMIM:187800|MESH:C566061|UMLS:C1861195																		owl:Class
MONDO:0020020	biolink:NamedThing	visceral malformation of the liver, biliary tract, pancreas or spleen		mondoexuq1wtf												Orphanet:98041																		owl:Class
MONDO:0018264	biolink:NamedThing	oculocutaneous albinism type 6	A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	mondoexuq1wtf	albinism, oculocutaneous, type VI|skin/hair/eye pigmentation 4, fair/dark skin|skin/hair/eye pigmentation, variation In, 4|OCA6											SCTID:722058005|UMLS:C3805375|OMIM:113750|DOID:0080614|Orphanet:370097|ICD10:E70.3																		owl:Class
MONDO:0016143	biolink:NamedThing	qualitative or quantitative defects of gamma-sarcoglycan		mondoexuq1wtf	gamma-sarcoglycanopathy											Orphanet:207067																		owl:Class
MONDO:0019579	biolink:NamedThing	discrete papular lichen myxedematosus	Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.	mondoexuq1wtf												UMLS:C4273967|ICD10:L98.5|SCTID:717258005|Orphanet:90394																		owl:Class
MONDO:0012153	biolink:NamedThing	Alzheimer disease 9		mondoexuq1wtf	Alzheimer disease 9, susceptibility to|AD9|Alzheimer disease 9, late-onset|Alzheimer disease 9											UMLS:C1837149|MESH:C563834|OMIM:608907|DOID:0111364																		owl:Class
MONDO:0004565	biolink:NamedThing	intestinal obstruction	Blockage of the normal flow of the intestinal contents within the bowel.	mondoexuq1wtf	bowel obstruction											ICD9:560.89|ICD10:K56.69|NCIT:C9175|COHD:193518|DOID:8437|MESH:D007415|UMLS:C0021843|ICD9:560.9|SCTID:81060008|ICD10:K56.60																		owl:Class
MONDO:0002371	biolink:NamedThing	breast pericanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.	mondoexuq1wtf	breast pericanalicular fibroadenoma|pericanalicular breast fibroadenoma|pericanalicular fibroadenoma of breast|pericanalicular fibroadenoma of the breast|pericanalicular fibroadenoma|pericanalicular fibroadenoma (morphologic abnormality)											ICDO:9012/0|UMLS:C0334497|NCIT:C4272|DOID:2639																		owl:Class
CL:0000775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002476	biolink:NamedThing	anuria	Absence of urine output.	mondoexuq1wtf	suppression of urinary secretion											UMLS:C0003460|DOID:2983|MESH:D001002																		owl:Class
MONDO:0006520	biolink:NamedThing	Achenbach syndrome	A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.	mondoexuq1wtf	Achenbach syndrome|paroxysmal hematoma of the finger											SCTID:238824006|EFO:1000661|DOID:6687|PMID:22915534|NCIT:C35467																		owl:Class
MONDO:0011560	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 3		mondoexuq1wtf	SLEB3|systemic lupus erythematosus, susceptibility to, 3											OMIM:605480																		owl:Class
MONDO:0004159	biolink:NamedThing	pancreatic non-invasive mucinous cystadenocarcinoma	A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.	mondoexuq1wtf												DOID:7237|ICDO:8470/2|UMLS:C1518874|NCIT:C41245																		owl:Class
MONDO:0037746	biolink:NamedThing	malignant vaginal mixed epithelial and mesenchymal neoplasm	A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.	mondoexuq1wtf	malignant vaginal mixed epithelial and mesenchymal neoplasm|malignant vaginal mixed epithelial and mesenchymal tumor											UMLS:C1512974|NCIT:C40276																		owl:Class
MONDO:0001681	biolink:NamedThing	diphtheritic cystitis	A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.	mondoexuq1wtf												SCTID:48278001|ICD10:A36.85|UMLS:C0152954|DOID:13306|ICD9:032.84																		owl:Class
MONDO:0013431	biolink:NamedThing	Meier-Gorlin syndrome 4	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.	mondoexuq1wtf	Meier-Gorlin syndrome 4|Meier-GORLIN syndrome 4|MGORS4|CDT1 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 4|Meier-Gorlin syndrome caused by mutation in CDT1											OMIM:613804|DOID:0080515|UMLS:C3151120																		owl:Class
MONDO:0003668	biolink:NamedThing	extragonadal seminoma		mondoexuq1wtf	primary extragonadal seminoma|extragonadal seminoma|extragonadal primary seminoma											DOID:5838|NCIT:C7327|UMLS:C1333502																		owl:Class
MONDO:0006375	biolink:NamedThing	placental hemangioma	A hemangioma arising from the fetal blood vessels in the placental villi.	mondoexuq1wtf	hemangioma of the placenta|placenta hemangioma|angioma of placenta|angioma of the placenta|Chorangioma of the placenta|hemangioma of placenta|placental angioma|Chorangioma placentae|chorioangioma|Chorangioma|placental hemangioma											NCIT:C4868|SCTID:237268002|UMLS:C0677608|DOID:277|EFO:1000480|ICD9:219.8																		owl:Class
MONDO:0006335	biolink:NamedThing	ovarian endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.	mondoexuq1wtf	endometrioid adenocarcinoma of the ovary|endometrioid cancer of the ovary|ovarian endometrioid carcinoma|endometrium adenocarcinoma of ovary|endometrioid carcinoma ovary|ovarian endometrioid adenocarcinoma|ovarian endometrioid cancer|endometrioid adenocarcinoma of ovary|endometrioid carcinoma of ovary|endometrioid carcinoma of the ovary|ovary endometrium adenocarcinoma|endometrioid cancer of ovary|endometrioid ovarian cancer|endometrioid ovary carcinoma											ICD10:C56|NCIT:C7979|EFO:1000416|DOID:5828|ONCOTREE:EOV|UMLS:C0346163|Orphanet:454723|SCTID:254852002																		owl:Class
MONDO:0003997	biolink:NamedThing	colon Kaposi sarcoma	A Kaposi sarcoma arising from the colon.	mondoexuq1wtf	colon Kaposi's sarcoma (disease)|colonic Kaposis sarcoma|colonic Kaposi sarcoma|Kaposi's sarcoma of the colon|Kaposi's sarcoma of colon|colon Kaposi sarcoma|colon Kaposi's sarcoma|Kaposi's sarcoma (disease) of colon|colon Kaposis sarcoma|colonic Kaposi's sarcoma											UMLS:C1333091|NCIT:C5516|DOID:6804																		owl:Class
MONDO:0013542	biolink:NamedThing	Moyamoya disease 5	Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.	mondoexuq1wtf	MYMY5|ACTA2 Moyamoya disease|Moyamoya disease caused by mutation in ACTA2|Moyamoya disease 5|Moyamoya disease type 5											UMLS:C3279690|OMIM:614042																		owl:Class
MONDO:0004481	biolink:NamedThing	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.	mondoexuq1wtf	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma											ICDO:8453/3|NCIT:C5726|DOID:8150|UMLS:C1518871																		owl:Class
MONDO:0013935	biolink:NamedThing	Usher syndrome type 1J	Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.	mondoexuq1wtf	CIB2 Usher syndrome|USH1J|Usher syndrome type Ij|USHER syndrome, type Ij|Usher syndrome caused by mutation in CIB2|Usher syndrome, type 1J											ICD10:H35.5|UMLS:C3553944|OMIM:614869|DOID:0110836																		owl:Class
MONDO:0054763	biolink:NamedThing	neurodegeneration with brain iron accumulation 7		mondoexuq1wtf	neurodegeneration with brain iron accumulation 7|NBIA7											UMLS:CN895590|OMIM:617916																		owl:Class
MONDO:0030801	biolink:NamedThing	monosomy 7 myelodysplasia and leukemia syndrome 2		mondoexuq1wtf	M7MLS2|monosomy 7 myelodysplasia and leukemia syndrome 2											OMIM:619041																		owl:Class
MONDO:0009459	biolink:NamedThing	channelopathy-associated congenital insensitivity to pain, autosomal recessive	A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)	mondoexuq1wtf	indifference to pain, congenital, autosomal recessive|insensitivity to pain, channelopathy-associated|HSAN2D|asymbolia for pain|channelopathy-associated CIP|HSAN2D, AR|congenital analgesia, autosomal recessive|neuropathy, hereditary sensory and autonomic, type 2D|CIP											UMLS:C1855739|Orphanet:88642|GARD:0012267|ICD10:G60.8|OMIM:243000																		owl:Class
MONDO:0011770	biolink:NamedThing	aortic aneurysm, familial thoracic 2		mondoexuq1wtf	AAT2|aortic aneurysm, familial thoracic 2|FAA2											UMLS:C1846837|MESH:C564627|OMIM:607087																		owl:Class
MONDO:0019612	biolink:NamedThing	functioning gonadotropic adenoma	Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).	mondoexuq1wtf	functioning pituitary gonadotropic adenoma|gonadotroph adenoma											Orphanet:91348|ICD10:D35.2|SCTID:254960002|UMLS:C0346304																		owl:Class
NCBITaxon:203691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25302	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011546	biolink:NamedThing	heterotaxy, visceral, 2, autosomal		mondoexuq1wtf	DTGA2|heterotaxy, visceral, 2, autosomal|HTX2|Htx|transposition of the great arteries, dextro-looped 2											OMIM:605376|UMLS:C1415817																		owl:Class
HGNC:18292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr22	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014400	biolink:NamedThing	retinitis pigmentosa 70	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.	mondoexuq1wtf	RP70|PRPF4 retinitis pigmentosa|retinitis pigmentosa 70|retinitis pigmentosa caused by mutation in PRPF4|retinitis pigmentosa type 70											ICD10:H35.5|UMLS:C4014681|OMIM:615922|DOID:0110392																		owl:Class
HGNC:17349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010807	biolink:NamedThing	autosomal recessive nonsyndromic deafness 2	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	mondoexuq1wtf	DFNB2|deafness, autosomal recessive 2|deafness, autosomal recessive type 2|neurosensory nonsyndromic recessive deafness 2|autosomal recessive deafness 2|autosomal recessive nonsyndromic deafness type 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A|MYO7A autosomal recessive nonsyndromic deafness											DOID:0110477|MESH:C564007|OMIM:600060|ICD10:H90.3|UMLS:C1838701																		owl:Class
MONDO:0011350	biolink:NamedThing	autosomal dominant nonsyndromic deafness 17	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.	mondoexuq1wtf	late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|deafness, autosomal dominant 17|MYH9 autosomal dominant nonsyndromic deafness|Cochleosaccular Degeneration|deafness, autosomal dominant nonsyndromic sensorineural 17|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|nonsyndromic hereditary deafness DFNA17|autosomal dominant nonsyndromic deafness type 17|DFNA17|deafness, autosomal dominant type 17|autosomal dominant deafness 17											OMIM:603622|GARD:0009726|ICD10:H90.3|DOID:0110548																		owl:Class
HGNC:7579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012356	biolink:NamedThing	glomerulocystic kidney disease with hyperuricemia and isosthenuria		mondoexuq1wtf	glomerulocystic kidney disease with hyperuricemia and isosthenuria											OMIM:609886|MESH:C563693|UMLS:C1835934																		owl:Class
HGNC:12559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070991	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10680	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001168	biolink:NamedThing	spastic hemiplegia	A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.	mondoexuq1wtf	congenital hemiplegia|hemiplegic infantile cerebral palsy|spastic hemiplegic cerebral palsy|hemiplegic cerebral palsy											ICD9:342.10|ICD9:343.1|UMLS:C0270805|NCIT:C116905|DOID:10967|SCTID:79633009|COHD:375528																		owl:Class
GO:0000002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6325	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014253	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 3	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	mondoexuq1wtf	autoimmune lymphoproliferative syndrome type III|common variable immunodeficiency 9|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 3|CVID9|immunodeficiency, common variable, 9, formerly|ALPS3|ALPS-U|type 3 autoimmune lymphoproliferative syndrome|immunodeficiency, common variable, 9|autoimmune lymphoproliferative syndrome-undetermined variant|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|type 3 ALPS|autoimmune lymphoproliferative syndrome, type III											OMIM:615559|UMLS:C1519711|ICD10:D47.9|NCIT:C39577|DOID:0110119|UMLS:C3809928																		owl:Class
HGNC:9399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004012	biolink:NamedThing	adult botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	mondoexuq1wtf	adult botryoid-type embryonal rhabdomyosarcoma|adult botryoid sarcoma|botryoid rhabdomyosarcoma of adults											NCIT:C36099|UMLS:C1332185|DOID:6847																		owl:Class
HGNC:20233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006640	biolink:NamedThing	adrenal gland hyperfunction	Excess production of adrenal cortex hormones.	mondoexuq1wtf	hypercorticism|hyperadrenalism|hypercortisolemia|adrenocortical hyperfunction|hypercortisolism|hyperfunction, adrenal gland|hyperfunction, adrenocortical|disorder of corticoadrenal overactivity|hyperadrenocorticism|adrenal gland hyperfunction											MESH:D000308|EFO:1000797|GARD:0008252|UMLS:C0001622|HP:0003118|ICD9:255.3|SCTID:275437005|UMLS:CN205287|DOID:3947														https://github.com/monarch-initiative/mondo/issues/3376				owl:Class
HP:0002717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4593	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012528	biolink:NamedThing	hypogonadotropic hypogonadism 4 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 4 with or without anosmia|HH4|PROK2 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in PROK2|Kallman syndrome 4|Kallmann syndrome 4|KAL4											GARD:0010772|ICD10:E23.0|MESH:C565696|DOID:0090077|UMLS:C3552343|OMIM:610628														https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4				owl:Class
HGNC:18455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018952	biolink:NamedThing	argyria	Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).	mondoexuq1wtf	Silver staining											Orphanet:60014|MedDRA:10003094|MESH:D001129|ICD10:T56.8																		owl:Class
UBERON:0003957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2697049	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014374	biolink:NamedThing	nephronophthisis 18	Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.	mondoexuq1wtf	CEP83 nephronophthisis (disease)|NPHP18|nephronophthisis type 18|nephronophthisis 18|nephronophthisis (disease) caused by mutation in CEP83											UMLS:C3890591|OMIM:615862|DOID:0111125																		owl:Class
HGNC:17966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5759	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18688	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001760	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013088	biolink:NamedThing	follicular lymphoma, susceptibility to, 1		mondoexuq1wtf	follicular lymphoma, susceptibility to, 1|FL1											OMIM:613024																		owl:Class
HGNC:989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024542	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.	mondoexuq1wtf	CAMRQ1|VLDLR dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|dysequilibrium syndrome caused by mutation in VLDLR|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1											OMIM:224050|UMLS:CN074243																		owl:Class
HGNC:12698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010907	biolink:NamedThing	familial hypertryptophanemia	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.	mondoexuq1wtf	hypertryptophanemia, familial|HYPTRP|hypertryptophanemia											SCTID:721838005|UMLS:C1833562|MESH:C538393|ICD10:E70.8|DOID:0111703|Orphanet:2224|UMLS:C2931837|OMIM:600627|GARD:0002871														https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia				owl:Class
HGNC:11708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013549	biolink:NamedThing	N-acetylaspartate deficiency		mondoexuq1wtf	hypoacetylaspartia|NACED|N-acetylaspartate deficiency|naa deficiency											OMIM:614063|UMLS:C3279716																		owl:Class
HGNC:26742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010016	biolink:NamedThing	sclerosteosis 1	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.	mondoexuq1wtf	sclerosteosis caused by mutation in SOST|sclerosteosis type 1|cortical hyperostosis with syndactyly|SOST|SOST sclerosteosis|SOST1|sclerosteosis 1											UMLS:CN032489|OMIM:269500|DOID:0060756|ICD10:M85.2																		owl:Class
HGNC:13771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001302	biolink:NamedThing	hypertensive heart disease	Abnormal enlargement of the heart resulting from long-standing hypertension.	mondoexuq1wtf	hypertensive cardiopathy|hypertensive cardiomegaly|hypertensive heart disease|hypertensive cardiovascular disease											UMLS:C0152105|ICD9:402|SCTID:64715009|NCIT:C4907|COHD:442604|DOID:11516|ICD10:I11|ICD10:I11.9|ICD9:402.9																		owl:Class
MONDO:0011102	biolink:NamedThing	autosomal dominant nonsyndromic deafness 12	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	mondoexuq1wtf	autosomal dominant deafness 8|DFNA8|deafness, autosomal dominant type 12|deafness, autosomal dominant 8|autosomal dominant nonsyndromic deafness caused by mutation in tecta|tecta autosomal dominant nonsyndromic deafness|TECTA autosomal dominant nonsyndromic deafness|autosomal dominant deafness 12|DFNA12|autosomal dominant nonsyndromic deafness type 12|deafness, autosomal dominant 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA											MESH:C563295|DOID:0110544|ICD10:H90.3|UMLS:C1832187|OMIM:601543																		owl:Class
HGNC:29007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001065	biolink:NamedThing	supine hypotensive syndrome	A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.	mondoexuq1wtf	antepartum maternal hypotension syndrome|postpartum maternal hypotension syndrome|maternal hypotension syndrome											SCTID:88887003|ICD9:669.20|HP:0008071|DOID:10556																		owl:Class
HP:0008071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013656	biolink:NamedThing	intellectual disability, autosomal dominant 9	An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.	mondoexuq1wtf	KIF1A autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 9|MRD9|intellectual disability, autosomal dominant 9|autosomal dominant mental retardation 9|autosomal dominant intellectual disability 9|autosomal dominant non-syndromic intellectual disability 9|autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|mental retardation, autosomal dominant type 9|intellectual disability, autosomal dominant type 9											UMLS:C3280283|DOID:0070039|NCIT:C133742|OMIM:614255																		owl:Class
HGNC:888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016734	biolink:NamedThing	anaplastic ganglioglioma	A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)	mondoexuq1wtf	AGNG											UMLS:C0431112|GARD:0010639|NCIT:C4717|Orphanet:251957|ONCOTREE:AGNG|ICDO:9505/3														https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma				owl:Class
MONDO:0007745	biolink:NamedThing	Gilbert syndrome	An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.	mondoexuq1wtf	hereditary nonhemolytic jaundice|constitutional hyperbilirubinemia|hyperbilirubinemia 1|hyperbilirubinemia, Gilbert type|Gilbert's syndrome|Gilbert-Meulengracht syndrome|Gilbert disease|Gilbert syndrome|Gilbert's disease|hyperbilirubinemia, Arias type											NCIT:C84729|SCTID:27503000|EFO:0005556|DOID:2739|MESH:D005878|GARD:0006507|ICD10:E80.4|COHD:4099740|OMIM:143500																		owl:Class
HGNC:2040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100103	biolink:NamedThing	fetal akinesia deformation sequence 3	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.	mondoexuq1wtf	FADS3							http://orcid.org/0000-0001-5208-3432				DOID:0111376|OMIM:618389																		owl:Class
HGNC:26594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012138	biolink:NamedThing	muscular dystrophy-dystroglycanopathy type B6	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.	mondoexuq1wtf	congenital muscular dystrophy large-related|MDDGB6|muscular dystrophy, congenital, large-related|MDC1D|congenital muscular dystrophy type 1D|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|muscular dystrophy, congenital, type 1D											MESH:C563844|Orphanet:98894|OMIM:608840|UMLS:C1837229|DOID:0110637|ICD10:G71.2																		owl:Class
HGNC:6511	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:44417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009416	biolink:NamedThing	hypoinsulinemic hypoglycemia and body hemihypertrophy		mondoexuq1wtf	HIHGHH|hypoinsulinemic hypoglycemia with hemihypertrophy											OMIM:240900|UMLS:CN203155|Orphanet:293964																		owl:Class
HGNC:392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6697	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11364	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007734	biolink:NamedThing	holoprosencephaly 4	A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.	mondoexuq1wtf	holoprosencephaly type 4|TGIF1 holoprosencephaly|holoprosencephaly caused by mutation in TGIF1|holoprosencephaly 4|HPE4											OMIM:142946|NCIT:C75475|UMLS:C1840528|MESH:C564180|DOID:0110880																		owl:Class
HGNC:11776	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002240	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005927	biolink:NamedThing	polyomavirus infectious disease	Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).	mondoexuq1wtf												UMLS:C0949804|MESH:D027601|EFO:0007451																		owl:Class
NCBITaxon:36362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001814	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3546	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011176	biolink:NamedThing	intestinal hypomagnesemia 1	Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.	mondoexuq1wtf	HSH|HOMG1|familial primary hypomagnesemia caused by mutation in TRPM6|TRPM6 familial primary hypomagnesemia|intestinal hypomagnesemia type 1|hypomagnesemia intestinal type 1|primary hypomagnesemia with secondary hypocalcemia|hypomagnesemia caused by selective magnesium malabsorption|Homg|hypomagnesemia 1, intestinal|hypomagnesemia, intestinal, with secondary hypocalcemia|TRPM6 primary hypomagnesemia|hypomagnesemia with secondary hypocalcemia|intestinal hypomagnesemia with secondary hypocalcemia|hypomagnesemic tetany|PHSH|primary hypomagnesemia caused by mutation in TRPM6											DOID:0060883|SCTID:190856003|GARD:0013072|OMIM:602014|MESH:C566593|ICD10:E83.4|UMLS:C1865974|Orphanet:30924																		owl:Class
HGNC:17995	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014662	biolink:NamedThing	congenital insensitivity to pain-hypohidrosis syndrome	A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.	mondoexuq1wtf	neuropathy, hereditary sensory and autonomic, type VIII|hereditary sensory and autonomic neuropathy type 8|CIP-hypohidrosis syndrome|HSAN8|hereditary sensory and autonomic neuropathy type VIII|HSAN 8|neuropathy, hereditary sensory and autonomic, type 8											OMIM:616488|Orphanet:478664|UMLS:C4225308|DOID:0070153																		owl:Class
HGNC:13997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020692	biolink:NamedThing	spondylocostal dysostosis 1, autosomal recessive		mondoexuq1wtf	SCDO1|vertebral anomalies|spondylocostal dysostosis 1, autosomal recessive|spondylothoracic dysplasia|spondylothoracic dysostosis											OMIM:277300																		owl:Class
HGNC:2909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005425	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:28901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018312	biolink:NamedThing	histoplasmosis	A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.	mondoexuq1wtf	Histoplasma infectious disease|darling disease|Histoplasma disease or disorder|Histoplasma caused disease or disorder											MESH:D006660|ICD9:115.90|ICD10:B39.1|ICD10:B39.9|ICD10:B39.0|SCTID:12962009|DOID:1731|COHD:433134|ICD10:B39|NCIT:C77201|ICD10:B39.4|ICD10:B39.2|ICD9:115|UMLS:C0019655|EFO:0007310|MedDRA:10020141|ICD9:115.9|ICD9:115.99|MedDRA:10021808|Orphanet:390|ICD10:B39.3|ICD10:B39.5																		owl:Class
NCBITaxon:5036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008266	biolink:NamedThing	polydactyly, postaxial, type A1		mondoexuq1wtf	polydactyly, postaxial, type A1|postaxial polydactyly, type A|PAPA1|polydactyly, postaxial|postaxial polydactyly, type B											OMIM:174200																		owl:Class
HGNC:4319	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NBO:0000433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001580	biolink:NamedThing	lacrimal duct cancer	A primary or metastatic malignant neoplasm affecting the lacrimal duct.	mondoexuq1wtf	malignant lacrimal drainage system neoplasm|malignant neoplasm of lacrimal duct|malignant lacrimal duct tumor|lacrimal drainage system cancer|malignant lacrimal duct neoplasm|malignant tumor of the lacrimal duct|malignant tumor of lacrimal duct|malignant neoplasm of lacrimal drainage system|malignant neoplasm of the lacrimal duct|cancer of lacrimal drainage system											ICD9:190.7|DOID:12756|SCTID:188274004|UMLS:C0153631|NCIT:C3567																		owl:Class
UBERON:0001850	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014582	biolink:NamedThing	congenital myasthenic syndrome 2C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	mondoexuq1wtf	congenital myasthenic syndrome type 2C|CMS2C|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency											OMIM:616314|UMLS:C4225373|DOID:0110680																		owl:Class
HGNC:1961	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001350	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012096	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2L	Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy axonal type 2L|Charcot-Marie-Tooth disease, axonal, type 2L|CMT2L|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|autosomal dominant Charcot-Marie-Tooth disease type 2L|HSPB8 Charcot-Marie-Tooth disease type 2											ICD10:G60.0|UMLS:C1837552|SCTID:719513008|DOID:0110174|GARD:0012432|UMLS:C4304673|Orphanet:99945|OMIM:608673																		owl:Class
HGNC:25360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6485	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5136	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:523089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000113	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:124	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014272	biolink:NamedThing	palmoplantar keratoderma, Nagashima type	Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	mondoexuq1wtf	PPKN|palmoplantar hyperkeratosis, Nagashima type|palmoplantar keratoderma, Nagashima type|PPK, Nagashima type											Orphanet:140966|SCTID:722205008|OMIM:615598|UMLS:C3810072|ICD10:Q82.8																		owl:Class
HGNC:13902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9208	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001907	biolink:NamedThing	adult dermatomyositis	Dermatomyositis in an adult.	mondoexuq1wtf	adult onset dermatomyositis|dermatomyositis of adults											SCTID:402425006|DOID:14202|NCIT:C27313																		owl:Class
HGNC:2019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14253	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014912	biolink:NamedThing	infantile-onset periodic fever-panniculitis-dermatosis syndrome		mondoexuq1wtf	otulin deficiency|Autoinflammation, panniculitis, and dermatosis syndrome|AIPDS|otulin-related autoinflammatory syndrome|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome|ORAS|autoinflammation, panniculitis and dermatosis syndrome|otulipenia											DOID:0080163|GARD:0013198|Orphanet:500062|OMIM:617099|SCTID:765435009|UMLS:C4310614														https://rarediseases.info.nih.gov/diseases/13198/otulipenia				owl:Class
HGNC:9905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6199	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014391	biolink:NamedThing	severe combined immunodeficiency due to CTPS1 deficiency	Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	mondoexuq1wtf	IMD24|immunodeficiency type 24|immunodeficiency 24|SCID due to CTPS1 deficiency											OMIM:615897|ICD10:D81.2|Orphanet:420573|UMLS:C4014617|SCTID:763623001																		owl:Class
HGNC:2519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014783	biolink:NamedThing	preimplantation embryonic lethality 1	Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene.	mondoexuq1wtf	TLE6 preimplantation embryonic lethality|preimplantation embryonic lethality type 1|preimplantation embryonic lethality 1|Prembl|PREMBL1|preimplantation embryonic lethality 1; PREMBL1|preimplantation embryonic lethality caused by mutation in TLE6											OMIM:616814|UMLS:C4225197																		owl:Class
HGNC:30788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013782	biolink:NamedThing	pseudohypoaldosteronism type 2E	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.	mondoexuq1wtf	PHA2E|CUL3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism type 2 caused by mutation in CUL3|Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIE|pseudohypoaldosteronism, type 2E|pseudohypoaldosteronism type 2 caused by mutation in Cul3											UMLS:C3469606|OMIM:614496|ICD10:I15.1|Orphanet:300530																		owl:Class
HGNC:2553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013505	biolink:NamedThing	spermatogenic failure 9	Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.	mondoexuq1wtf	spermatogenic failure 9|DPY19L2 azoospermia|globozoospermia, complete|globozoospermia, total|azoospermia caused by mutation in DPY19L2|SPGF9|spermatogenic failure type 9											DOID:0070175|OMIM:613958|UMLS:C3151407																		owl:Class
HGNC:19414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008513	biolink:NamedThing	synpolydactyly type 1	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.	mondoexuq1wtf	SPD, Vordingborg type|synpolydactyly with foot anomalies|synpolydactyly type 1|synpolydactyly 1|syndactyly, type 2|non-syndromic synpolydactyly caused by mutation in HOXD13|SD2, Vordingborg type|SD2a|SPD1|synpolydactyly, Vordingborg type|HOXD13 non-syndromic synpolydactyly					Editors note: check whether is_a: MONDO:0019683 is appropriate						ICD10:Q70.0|UMLS:CN203278|ICD10:Q70.2|Orphanet:295195|OMIM:186000																		owl:Class
HGNC:951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0045087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16361	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9386	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011974	biolink:NamedThing	retinitis pigmentosa 7	A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.	mondoexuq1wtf	retinitis pigmentosa 7|RP7|retinitis pigmentosa type 7|RP 7|retinitis pigmentosa 7, digenic|Leber congenital amaurosis 18											OMIM:608133|ICD10:H35.5|UMLS:C1842475|GARD:0010386|DOID:0110383														https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7				owl:Class
HGNC:10254	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6524	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000167	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009287	biolink:NamedThing	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.	mondoexuq1wtf	glycogenosis due to glucose-6-phosphatase deficiency type Ia|GSD due to G6P deficiency type 1a|glucose-6-phosphatase deficiency glycogen storage disease|glycogen storage disease type Ia|glycogenosis type Ia|glycogenosis due to glucose-6-phosphatase deficiency type 1a|glycogen storage disease 1|GSD due to G6P deficiency type Ia|hepatorenal form of glycogen storage disease|G6P deficiency type 1a|hepatorenal glycogenosis|GSDIa|glucose-6-phosphatase deficiency|glycogen storage disease caused by mutation in G6PC|Von Gierke disease|GSD Ia|glycogen storage disease type 1a|GSD1A|G6PC glycogen storage disease|GSD type 1a|glycogen storage disease 1A|GSD1|glycogen storage disease Ia|glycogen storage disease due to G6P deficiency type Ia											UMLS:CN205860|GARD:0007864|OMIM:232200|Orphanet:79258|UMLS:CN069618|MESH:C538655|UMLS:C2919796|SCTID:444707001|ICD10:E74.0																		owl:Class
MONDO:0001136	biolink:NamedThing	chylocele of tunica vaginalis		mondoexuq1wtf												DOID:10835|ICD9:608.84|SCTID:7864001|COHD:435602|UMLS:C0156315																		owl:Class
UBERON:0006650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043765	biolink:NamedThing	presbycusis	Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.	mondoexuq1wtf	presbycusis|age-related hearing loss|presbyacusia|senile deafness|Presbycuses											NCIT:C116367|MESH:D011304|SCTID:49526009																		owl:Class
HP:0010783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6470	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10978	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2464	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001533	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019483	biolink:NamedThing	methotrexate-associated lymphoproliferative disorders	Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.	mondoexuq1wtf	MTX-associated lymphoproliferative disorders|methotrexate-associated lymphoproliferation|methotrexate-associated lymphoproliferative disorder|MTX-LPD											Orphanet:86904|UMLS:CN206264|NCIT:C7184|DOID:5821|UMLS:C1334749																		owl:Class
HGNC:29673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4268	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013356	biolink:NamedThing	vesicoureteral reflux 3	Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.	mondoexuq1wtf	VUR3|SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux type 3|vesicoureteral reflux (disease) caused by mutation in SOX17|vesicoureteral reflux 3											UMLS:C3150927|OMIM:613674																		owl:Class
HGNC:18122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012085	biolink:NamedThing	primary ciliary dyskinesia 3	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.	mondoexuq1wtf	CILD3|primary ciliary dyskinesia 3 with or without situs inversus|ciliary dyskinesia, primary, 3, with or without situs inversus|ciliary dyskinesia, primary, 3|ciliary dyskinesia, primary, type 3|primary ciliary dyskinesia caused by mutation in DNAH5|primary ciliary dyskinesia type 3|DNAH5 primary ciliary dyskinesia											MESH:C535278|ICD10:Q34.8|UMLS:C1837618|OMIM:608644|DOID:0110599																		owl:Class
HGNC:2950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001846	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0036501	biolink:NamedThing	refractory malignant neoplasm	A malignant neoplasm that does not respond to treatment.	mondoexuq1wtf	refractory cancer|resistant cancer|refractory malignant neoplasm|clinical resistance											NCIT:C120186|UMLS:C0677936																		owl:Class
NCBITaxon:34504	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009401	biolink:NamedThing	hyperprolinemia type 2	Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.	mondoexuq1wtf	1-pyrroline-5-carboxylate dehydrogenase deficiency|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type II|type 2 hyperprolinemia|HPII|delta1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type 2|hyperprolinemia caused by mutation in ALDH4A1|HYRPRO2|ALDH4A1 hyperprolinemia											OMIM:239510|UMLS:C2931835|DOID:0080543|Orphanet:79101|SCTID:717181004|MedDRA:10058514|MESH:C538385|ICD10:E72.5|MedDRA:10058512|GARD:0006710														https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2				owl:Class
HGNC:406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019851	biolink:NamedThing	acquired primary ovarian failure	An instance of primary ovarian failure that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired premature ovarian failure|acquired primary ovarian failure											ICD10:E28.8|SCTID:717954003|Orphanet:95709|UMLS:C4303540																		owl:Class
HGNC:24154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010515	biolink:NamedThing	Meester-Loeys syndrome		mondoexuq1wtf	Meester-Loeys syndrome|Meester-Loeys syndrome; MRLS|MRLS											UMLS:C4310811|OMIM:300989																		owl:Class
HGNC:1044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012820	biolink:NamedThing	colorectal cancer, susceptibility to, 3	Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.	mondoexuq1wtf	SMAD7 colorectal cancer|susceptibility to colorectal cancer 3|colorectal cancer, susceptibility to, type 3|colorectal cancer, susceptibility to, 3|CRCS3|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, on chromosome 18											OMIM:612229																		owl:Class
HGNC:6773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013234	biolink:NamedThing	hypokalemic periodic paralysis, type 2		mondoexuq1wtf	hypokalemic periodic paralysis, type 2|HOKPP2											OMIM:613345|UMLS:C2750061|MESH:C567635																		owl:Class
HGNC:20249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0045084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018712	biolink:NamedThing	composite hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.	mondoexuq1wtf	composite hemangioendothelioma											UMLS:CN242120|SCTID:403984006|ICD10:D18.0|Orphanet:458758|UMLS:C1304513|NCIT:C45475																		owl:Class
NCBITaxon:768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014527	biolink:NamedThing	progeroid features-hepatocellular carcinoma predisposition syndrome		mondoexuq1wtf	Ruijs-Aalfs syndrome|RJALS|RUIJS-Aalfs syndrome											Orphanet:435953|OMIM:616200|UMLS:C4015461|DOID:0111264																		owl:Class
HGNC:25356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024546	biolink:NamedThing	hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.	mondoexuq1wtf	PHOAR1|primary hypertrophic osteoarthropathy caused by mutation in HPGD|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Touraine-Solente-Gole syndrome|PDP, autosomal recessive|familial idiopathic osteoarthropathy of childhood|Pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|Currarino idiopathic osteoarthropathy|HPGD primary hypertrophic osteoarthropathy|Cranioosteoarthropathy											OMIM:259100																		owl:Class
HGNC:5154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6654	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000729	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012429	biolink:NamedThing	Aicardi-Goutieres syndrome 2	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.	mondoexuq1wtf	Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|Aicardi-Goutieres syndrome 2|AGS2|RNASEH2B-related Aicardi-Goutieres syndrome|RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 2											GARD:0010894|OMIM:610181|UMLS:C3489724																		owl:Class
HGNC:25671	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12660	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001126	biolink:NamedThing	gastric ulcer	An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.	mondoexuq1wtf	acute gastric ulcer with perforation and obstruction|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastric ulcer with haemorrhage and perforation|gastric ulcer (disease)|stomach peptic ulcer disease|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with hemorrhage and perforation|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage and perforation, with obstruction|peptic ulcer disease of stomach|acute gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with perforation|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer with hemorrhage, with obstruction|acute gastric ulcer without hemorrhage, without perforation and without obstruction|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|bleeding acute gastric ulcer|acute gastric ulcer with perforation, with obstruction|acute gastric ulcer with hemorrhage and obstruction|acute gastric ulcer with hemorrhage and with perforation but without obstruction|gastric ulcer		gastric ulcer (disease)									HP:0002592|NCIT:C3388|SCTID:397825006|DOID:10808|ICD9:531|COHD:4265600|MESH:D013276|ICD10:K25|UMLS:C0038358																		owl:Class
UBERON:0002027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011897	biolink:NamedThing	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.	mondoexuq1wtf	tach syndrome|ataxia, delayed dentition, and hypomyelination|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|ataxia-delayed dentition-hypomyelination syndrome|4H syndrome|HLD7|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|dentoleukoencephalopathy											ICD10:G11.1|OMIM:607694|Orphanet:137639|SCTID:721846006|ICD10:E75.2|DOID:0060794																		owl:Class
HGNC:30074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9402	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013848	biolink:NamedThing	dilated cardiomyopathy 2B	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.	mondoexuq1wtf	cardiomyopathy, dilated, 2B|cardiomyopathy, dilated, type 2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|dilated cardiomyopathy type 2B|CMD2B|GATAD1 familial isolated dilated cardiomyopathy											UMLS:C3553409|DOID:0110441|OMIM:614672|ICD10:I42.0																		owl:Class
HGNC:29941	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011357	biolink:NamedThing	eccrine syringofibroadenomatosis with eyelid abnormalities		mondoexuq1wtf	eccrine syringofibroadenomatosis with eyelid abnormalities											OMIM:603669|MESH:C566347|UMLS:C1863618																		owl:Class
MONDO:0006680	biolink:NamedThing	blue nevus	An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.	mondoexuq1wtf	benign mesenchymal melanoma|blue skin Nevus|Jadassohn-TiC(che nevus|Jadassohn-TiC(che syndrome|blue Nevus of skin|Tièche-Jadassohn nevus|blue neuronevus|Jadassohn-Tièche nevus|Jadassohn-Tièche syndrome|blue Nevus of the skin|blue nevus											NCIT:C3803|EFO:1000841|MESH:D018329|GARD:0008452|MedDRA:10062788|ICDO:8780/0|SCTID:254806009																		owl:Class
MONDO:0014539	biolink:NamedThing	focal segmental glomerulosclerosis 9	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.	mondoexuq1wtf	CRB2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 9|focal segmental glomerulosclerosis 9|focal segmental glomerulosclerosis caused by mutation in CRB2|FSGS9|glomerulosclerosis, focal segmental, 9											DOID:0111134|UMLS:C4015555|OMIM:616220|ICD10:N04.1																		owl:Class
MONDO:0010730	biolink:NamedThing	combined immunodeficiency, X-linked		mondoexuq1wtf	combined immunodeficiency, X-linked|immunodeficiency 6|Xcid|CIDX											OMIM:312863																		owl:Class
HGNC:6010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013316	biolink:NamedThing	occult macular dystrophy	Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.	mondoexuq1wtf	OMD|Omd|occult macular dystrophy|OCMD											Orphanet:247834|UMLS:C3150833|DOID:0050578|ICD10:H35.5|OMIM:613587																		owl:Class
HGNC:15946	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000343	biolink:NamedThing	Barmah forest virus disease	A disease caused by infection with Barmah Forest virus.	mondoexuq1wtf	Barmah Forest virus caused disease or disorder|Barmah Forest virus infectious disease|Barmah Forest virus disease or disorder											DOID:0050517																		owl:Class
NCBITaxon:11020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012541	biolink:NamedThing	deafness with labyrinthine aplasia, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.	mondoexuq1wtf	LAMM syndrome|deafness with Lamm|microdontia-type I microtia-deafness syndrome|deafness congenital with inner ear agenesis microtia and microdontia|deafness, congenital, with inner EAR agenesis, microtia, and microdontia|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|congenital deafness with inner ear agenesis microtia and microdontia											MESH:C565195|Orphanet:90024|ICD9:759.89|ICD10:Q16.5|UMLS:C1853144|OMIM:610706|GARD:0010707|SCTID:702360007																		owl:Class
HGNC:3681	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2398	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000316	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3334	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012975	biolink:NamedThing	autosomal dominant nonsyndromic deafness 3B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	mondoexuq1wtf	deafness, autosomal dominant type 3B|GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|autosomal dominant nonsyndromic deafness type 3B|DFNA3B|deafness, autosomal dominant 3B											OMIM:612643|UMLS:C2675237|MESH:C567215|ICD10:H90.3|DOID:0110565																		owl:Class
HGNC:4288	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007555	biolink:NamedThing	epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.	mondoexuq1wtf	EBS-O|EBS-Og|epidermolysis bullosa simplex, Ogna type|EBSOG											ICD10:Q81.0|MESH:C535962|OMIM:131950|GARD:0002148|SCTID:398071000|ICD9:757.39|DOID:0060736|Orphanet:79401														https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type				owl:Class
HGNC:6000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1313	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008814	biolink:NamedThing	hyperargininemia	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.	mondoexuq1wtf	argininemia|hyperargininemia|arginase deficiency|Arg1 deficiency|deficiency of canavanase											GARD:0005840|SCTID:23501004|ICD10:E72.21|Orphanet:90|MedDRA:10062695|OMIM:207800|MESH:D020162|UMLS:C0268548|DOID:9278|NCIT:C84568|ICD10:E72.2																		owl:Class
HGNC:663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12496	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013783	biolink:NamedThing	microphthalmia, isolated, with coloboma 7	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.	mondoexuq1wtf	microphthalmia, isolated, with coloboma type 7|microphthalmia, isolated, with coloboma caused by mutation in ABCB6|MCOPCB7|ABCB6 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 7											UMLS:C3281027|OMIM:614497																		owl:Class
HGNC:47	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014670	biolink:NamedThing	lethal congenital contracture syndrome 9	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.	mondoexuq1wtf	ADGRG6 lethal congenital contracture syndrome|LCCS9|lethal congenital contracture syndrome 9|lethal congenital contracture syndrome caused by mutation in ADGRG6|lethal congenital contracture syndrome type 9											OMIM:616503|UMLS:C4225303																		owl:Class
HGNC:13841	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006695	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002064	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002293	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009597	biolink:NamedThing	metaphyseal chondrodysplasia, Spahr type		mondoexuq1wtf	metaphyseal chondrodysplasia Spahr type|Spahr type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, Spahr type|metaphyseal dysplasia, Spahr type|MDST											ICD10:Q78.5|Orphanet:2501|GARD:0003563|SCTID:254084008|OMIM:250400|MESH:C537353|UMLS:C0432225																		owl:Class
HGNC:7159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013504	biolink:NamedThing	spermatogenic failure 8	Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.	mondoexuq1wtf	NR5A1 azoospermia|spermatogenic failure 8|SPGF8|spermatogenic failure type 8|azoospermia caused by mutation in NR5A1											DOID:0070169|OMIM:613957|UMLS:C3151406																		owl:Class
HGNC:7983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1736	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016007	biolink:NamedThing	cocaine embryofetopathy	A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.	mondoexuq1wtf	cocaine fetopathy|prenatal cocaine exposure|fetal cocaine syndrome|cocaine antenatal exposure											SCTID:254250002|GARD:0001413|Orphanet:1911|ICD9:760.75|UMLS:C0432371|ICD10:Q86.8																		owl:Class
CHEBI:27958	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014470	biolink:NamedThing	autosomal dominant nonsyndromic deafness 65	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	mondoexuq1wtf	deafness, autosomal dominant 65|autosomal dominant deafness 65|autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|DFNA65|autosomal dominant nonsyndromic deafness type 65|deafness, autosomal dominant type 65|TBC1D24 autosomal dominant nonsyndromic deafness											OMIM:616044|ICD10:H90.3|UMLS:C3892048|DOID:0110586																		owl:Class
HGNC:29203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009733	biolink:NamedThing	nephrotic syndrome, type 4	Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.	mondoexuq1wtf	diffuse mesangial sclerosis|nephrotic syndrome, type 4|WT1 nephrotic syndrome|DMS|congenital nephrotic syndrome - diffuse mesangial sclerosis|nephrotic syndrome caused by mutation in WT1|diffuse isolated mesangial sclerosis|nephrotic syndrome, early onset with diffuse mesangial sclerosis|mesangial sclerosis, diffuse|NPHS4|isolated diffuse mesangial sclerosis|familial mesangial sclerosis											GARD:0003547|DOID:0080383|NCIT:C121198|OMIM:256370																		owl:Class
MONDO:0003632	biolink:NamedThing	endocervicitis	Inflammation of the endocervix.	mondoexuq1wtf	endocervix inflammation|inflammation of endocervix											DOID:5757|SCTID:31354001|UMLS:C0014127|NCIT:C26762																		owl:Class
UBERON:0000458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013444	biolink:NamedThing	nephronophthisis 9	Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.	mondoexuq1wtf	nephronophthisis type 9|nephronophthisis 9|NPHP9|nephronophthisis (disease) caused by mutation in NEK8|NEK8 nephronophthisis (disease)											UMLS:C3151188|DOID:0111120|OMIM:613824																		owl:Class
MONDO:0014963	biolink:NamedThing	Shashi-Pena syndrome		mondoexuq1wtf	Shashi-Pena syndrome; SHAPNS|SHAPNS|Shashi-Pena syndrome											OMIM:617190|UMLS:C4310672																		owl:Class
HGNC:23805	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:138950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011915	biolink:NamedThing	mitral valve prolapse, myxomatous 2		mondoexuq1wtf	MVP2|mitral valve prolapse, myxomatous 2|mitral valve prolapse 2|myxomatous mitral valve prolapse 2|MMVP2											UMLS:C1843003|MESH:C564326|OMIM:607829																		owl:Class
HGNC:13681	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005740	biolink:NamedThing	Echovirus infectious disease	Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.	mondoexuq1wtf	infections, echo Virus|Echovirus caused disease or disorder|infection, echo Virus|echo Virus infections|Echovirus infection|infection, Echovirus|infections, Echovirus|echo Virus infection|Echovirus disease or disorder											EFO:0007247|SCTID:271532008|UMLS:C0013533|MESH:D004457																		owl:Class
NCBITaxon:33758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9142	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014275	biolink:NamedThing	Fanconi renotubular syndrome 3	Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.	mondoexuq1wtf	Fanconi syndrome caused by mutation in EHHADH|FRTS3|Fanconi renotubular syndrome 3|EHHADH Fanconi syndrome|Fanconi renotubular syndrome type 3											UMLS:C3810100|OMIM:615605																		owl:Class
HGNC:3247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009118	biolink:NamedThing	disseminated sclerosis with narcolepsy		mondoexuq1wtf	disseminated sclerosis with narcolepsy											MESH:C565621|OMIM:223300|UMLS:C1857229																		owl:Class
NCBITaxon:56212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100083	biolink:NamedThing	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.	mondoexuq1wtf	familial platelet disorder with associated myeloid malignancy|FPDMM|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|FPD/AML syndrome|platelet disorder, familial, with associated myeloid malignancy|familial thrombocytopenia with propensity to acute myelogenous leukemia|asprin-like platelet disorder|platelet disorder, aspirin-like|FPS/AML syndrome|familial platelet syndrome with predisposition to acute myelogenous leukemia							http://orcid.org/0000-0001-5208-3432				OMIM:601399																		owl:Class
HGNC:10471	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024567	biolink:NamedThing	hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.	mondoexuq1wtf	NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies|Ihprf|IHPRF1|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN|hypotonia, infantile, with psychomotor retardation and characteristic facies 1											OMIM:615419|UMLS:C3809454																		owl:Class
HGNC:19082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009398	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 1	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.	mondoexuq1wtf	hyperphosphatasia with intellectual disability syndrome 1|Mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with mental retardation syndrome type 1|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|HPMRS1|hyperphosphatasia with mental retardation syndrome 1|PIGV hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 1											OMIM:239300|UMLS:CN030519																		owl:Class
HGNC:26031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019544	biolink:NamedThing	cocaine intoxication		mondoexuq1wtf												ICD9:292.89|Orphanet:90068|SCTID:27956007|ICD10:T40.5																		owl:Class
HGNC:29262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014061	biolink:NamedThing	Steel syndrome		mondoexuq1wtf	bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|STLS|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature|steel syndrome											ICD10:Q87.5|OMIM:615155|UMLS:C3554594|Orphanet:438117																		owl:Class
HGNC:22986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007779	biolink:NamedThing	autosomal dominant Opitz G/BBB syndrome	Autosomal dominant form of Opitz G/BBB syndrome.	mondoexuq1wtf	hypospadias-dysphagia syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|autosomal dominant Opitz BBB/G syndrome|Opitz-G syndrome, type 2|Opitz Bbbg syndrome|GBBB syndrome|Opitz GBBB syndrome, autosomal dominant|Opitz GBBB syndrome, type 2|Opitz G/BBB syndrome, autosomal dominant|Opitz GBBB syndrome, type II|hypertelorism-hypospadias syndrome|G syndrome|telecanthus with associated abnormalities|GBBB2|Opitz-Frias syndrome|hypertelorism with esophageal Abnormality and hypospadias|Opitz oculogenitolaryngeal syndrome, type 2|ADOS|telecanthus-hypospadias syndrome|BBB syndrome|autosomal dominant Opitz syndrome											ICD10:Q87.8|OMIM:145410|Orphanet:306588																		owl:Class
HGNC:10947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24265	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000275	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019143	biolink:NamedThing	angiostrongyliasis	A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.	mondoexuq1wtf												NCIT:C128394|Orphanet:74|SCTID:61750000|MedDRA:10069517|GARD:0000683|UMLS:C0392662|ICD10:B83.2|MESH:C536369|ICD9:128.8|DOID:0050256|ICD10:B81.3														https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis				owl:Class
UBERON:0001130	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7795	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18871	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:53551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008913	biolink:NamedThing	cardiac valvular defect, developmental		mondoexuq1wtf	CVDD|cardiac valvular defect, developmental|CARDIAC valvular defect, developmental											OMIM:212093|UMLS:C1859330|DOID:0080633|MESH:C565882																		owl:Class
HGNC:9067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024556	biolink:NamedThing	epilepsy, familial focal, with variable foci 1	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.	mondoexuq1wtf	epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5|epilepsy, partial, with variable foci|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 1|FFEVF1											UMLS:C1858477|OMIM:604364|NCIT:C161005																		owl:Class
HGNC:18423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001897	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7179	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0015423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014549	biolink:NamedThing	lethal congenital contracture syndrome 6	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.	mondoexuq1wtf	ZBTB42 lethal congenital contracture syndrome|lethal congenital contracture syndrome 6|lethal congenital contracture syndrome caused by mutation in ZBTB42|lethal congenital contracture syndrome type 6|LCCS6											UMLS:C4015686|OMIM:616248																		owl:Class
HGNC:32550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020399	biolink:NamedThing	congenital hypoplasia of the mitral valve annulus	Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.	mondoexuq1wtf												Orphanet:99058|ICD9:746.89|UMLS:C3165203|SCTID:449270002|ICD10:Q23.2																		owl:Class
HP:0001718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014173	biolink:NamedThing	microcephaly 11, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.	mondoexuq1wtf	microcephaly 11, primary, autosomal recessive|PHC1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in PHC1|MCPH11											DOID:0070287|OMIM:615414|UMLS:C3809431																		owl:Class
HGNC:3182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010802	biolink:NamedThing	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	mondoexuq1wtf	heart defects, congenital, and other congenital anomalies|pancreatic agenesis and congenital heart defects|hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|HDCA|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease|Yorifuji Okuno syndrome|Yorifuji-Okuno syndrome|pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease											DOID:0111733|ICD10:Q87.8|GARD:0000347|OMIM:600001|Orphanet:2255|MESH:C564011|SCTID:722206009																		owl:Class
MONDO:0013610	biolink:NamedThing	retinitis pigmentosa 61	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.	mondoexuq1wtf	CLRN1 retinitis pigmentosa|retinitis pigmentosa 61|RP61|retinitis pigmentosa type 61|retinitis pigmentosa caused by mutation in CLRN1											ICD10:H35.5|DOID:0110373|UMLS:C3280041|OMIM:614180																		owl:Class
HGNC:12605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006731	biolink:NamedThing	drug-induced akathisia	An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.	mondoexuq1wtf												EFO:1000903|MESH:D017109|MedDRA:10001540|ICD10:G25.71|SCTID:230333002|ICD9:333.99																		owl:Class
UBERON:0003722	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002156	biolink:NamedThing	fallopian tube disease	A disease involving the fallopian tube.	mondoexuq1wtf	disease or disorder of fallopian tube|fallopian tube disease|disorder of fallopian tube|fallopian tube disease or disorder|disease of fallopian tube|fallopian tube disorder											MESH:D005184|SCTID:128134005|UMLS:C0015556|NCIT:C26771|DOID:1962																		owl:Class
HGNC:7577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005264	biolink:NamedThing	transient ischemic attack	A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.	mondoexuq1wtf	transient ischemic attack (disease)|transient cerebral ischaemia|transient ischemic attack|ischemic attack, transient|transient cerebral ischemia|transient cerebral ischemia (disorder) [ambiguous]|TIA|transient ischemic attacks|TIA - transient ischaemic attack|attack, transient ischemic		transient ischemic attack (disease)									ICD9:435.9|ICD9:435.8|MESH:D002546|EFO:0003764|ICD10:G45.9|NCIT:C50781|SCTID:266257000|DOID:224|HP:0002326|ICD9:435																		owl:Class
MONDO:0004786	biolink:NamedThing	chronic cholangitis	Cholangitis that is persistent and long-standing.	mondoexuq1wtf	cholangitis, chronic											UMLS:C0267918|DOID:9439|SCTID:71912000|NCIT:C35335																		owl:Class
UBERON:0002390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009087	biolink:NamedThing	deafness, neural, congenital moderate		mondoexuq1wtf	deafness, neural, congenital moderate											MESH:C565640|OMIM:221500|UMLS:C1857337																		owl:Class
UBERON:0003126	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:39054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2197	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25403	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20672	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:46684	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008575	biolink:NamedThing	nicotine dependence	Physical and psychological dependence on nicotine.	mondoexuq1wtf	smoking habit, susceptibility to|tobacco use disorder|nicotine addiction, susceptibility to|tobacco addiction, susceptibility to|nicotine dependence, susceptibility to|nicotine addiction|susceptibility to tobacco addiction|cigarette habituation, susceptibility to											ICD10:F17.2|DOID:0050742|MESH:D014029|ICD9:305.1|ICD10:F17|SCTID:56294008|NCIT:C54203|ICD10:F17.20|EFO:0003768|OMIM:188890																		owl:Class
UBERON:0002019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013606	biolink:NamedThing	Hermansky-Pudlak syndrome 9	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|HPS9|BLOC1S6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 9|Hermansky-Pudlak syndrome 9											Orphanet:280663|DOID:0060547|ICD10:E70.3|UMLS:C3280026|OMIM:614171																		owl:Class
HGNC:8549	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014070	biolink:NamedThing	oculocutaneous albinism type 7	Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.	mondoexuq1wtf	OCA7|LRMDA oculocutaneous albinism|oculocutaneous albinism caused by mutation in LRMDA|oculocutaneous albinism type VII|albinism, oculocutaneous, type VII|albinism, oculocutaneous, type 7											UMLS:CN204524|SCTID:722059002|Orphanet:352745|UMLS:C3808786|DOID:0070100|ICD10:E70.3|OMIM:615179																		owl:Class
HGNC:23405	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012161	biolink:NamedThing	susceptibility to respiratory infections associated with CD8alpha chain mutation	Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	mondoexuq1wtf	CD8 deficiency, familial|familial CD8 deficiency											OMIM:608957|UMLS:C1837065|ICD10:D84.8|Orphanet:169085|MESH:C563824|SCTID:766983005																		owl:Class
HGNC:1706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024287	biolink:NamedThing	congenital vascular malformation	A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.	mondoexuq1wtf	congenital vascular malformation|vascular malformation											NCIT:C112117																		owl:Class
MONDO:0021140	biolink:NamedThing	congenital	A characteristic of a disease in which the disease is present at birth, regardless of cause.	mondoexuq1wtf	inborn																													owl:Class
MONDO:0021021	biolink:NamedThing	craniodiaphyseal dysplasia, autosomal dominant		mondoexuq1wtf	craniodiaphyseal dysplasia, dominant|CDD|craniodiaphyseal dysplasia, autosomal dominant|Schaefer Stein Oshman syndrome|dominantly inherited craniodiaphyseal dysplasia											MESH:C567275|OMIM:122860|GARD:0000249																		owl:Class
UBERON:0000981	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013015	biolink:NamedThing	Brugada syndrome 5	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.	mondoexuq1wtf	BRGDA5|Cardiac conduction defect, nonspecific|Brugada syndrome 5|Brugada syndrome caused by mutation in SCN1B|Brugada syndrome type 5|SCN1B Brugada syndrome											DOID:0110222|OMIM:612838|ICD10:I49.8|UMLS:C2748541																		owl:Class
HGNC:10586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004322	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004913	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016856	biolink:NamedThing	Mowat-Wilson syndrome due to a ZEB2 point mutation		mondoexuq1wtf	Hirschsprung disease and intellectual disability due to a ZEB2 point mutation											ICD10:Q43.1|UMLS:CN202199|Orphanet:261552																		owl:Class
NCBITaxon:11050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009431	biolink:NamedThing	hereditary hypophosphatemic rickets with hypercalciuria	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.	mondoexuq1wtf	hypercalciuric rickets|hypercalciuric hypophosphatemic rickets|hypophosphatemic rickets with hypercalciuria, hereditary|hypophosphatemic hypercalciuric rickets|HHRH											SCTID:237891005|MESH:C562793|DOID:0050947|NCIT:C131450|UMLS:C1853271|Orphanet:157215|ICD10:E83.3|OMIM:241530																		owl:Class
HGNC:20305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11326	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018217	biolink:NamedThing	Koolen-de Vries syndrome due to a point mutation		mondoexuq1wtf												ICD10:Q93.5|UMLS:CN204741|Orphanet:363965																		owl:Class
MONDO:0012868	biolink:NamedThing	thrombophilia due to protein S deficiency, autosomal dominant	Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.	mondoexuq1wtf	THPH5|protein S acquired deficiency|thrombophilia due to protein S deficiency, autosomal dominant|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency					Note that ORDO appears to classify as hereditary and acquired.						MESH:C567077|MedDRA:10068370|OMIM:612336|ICD10:D68.8|UMLS:C3278211|Orphanet:26349																		owl:Class
HGNC:9456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007469	biolink:NamedThing	double nail for fifth toe		mondoexuq1wtf	fifth toe, double nails|Double nails on the fifth toe|double nail for fifth toe											GARD:0009672|MESH:C565090|OMIM:126500														https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe				owl:Class
UBERON:0003625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007561	biolink:NamedThing	multiple epiphyseal dysplasia type 1	Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	mondoexuq1wtf	multiple epiphyseal dysplasia 1|epiphyseal dysplasia, Fairbank type|multiple epiphyseal dysplasia, Comp-related|COMP multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia COMP-related|EDM1|epiphyseal dysplasia, multiple, 1|epiphyseal dysplasia, multiple, type 1|epiphyseal dysplasia, ribbing type|epiphyseal dysplasia multiple 1|Polyepiphyseal dysplasia type 1|MED1|multiple epiphyseal dysplasia (disease) caused by mutation in COMP											UMLS:C4275061|SCTID:715673002|GARD:0002180|OMIM:132400|Orphanet:93308|DOID:0070303|UMLS:C1838280|ICD10:Q77.3														https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1				owl:Class
HGNC:2227	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3386	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1968	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003431	biolink:NamedThing	lipoadenoma	An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.	mondoexuq1wtf	adenolipoma, benign|lipoadenoma|lipoadenoma (morphologic abnormality)											DOID:5398|UMLS:C0334325|ICDO:8324/0|NCIT:C4159																		owl:Class
CL:0000136	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021935	biolink:NamedThing	aspergillus niger infection	A infectious disease involving the Aspergillus niger.	mondoexuq1wtf	Aspergillus niger infection|Aspergillus niger infection, pulmonary|infections, Aspergillus niger											GARD:0009716|MESH:C535390														https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection				owl:Class
NCBITaxon:5061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700090	biolink:NamedThing	epilepsy, familial temporal lobe, 1	An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.	mondoexuq1wtf	epilepsy, familial temporal lobe, type 1|epilepsy, partial, with auditory features|epilepsy, lateral temporal lobe, autosomal dominant|ETL1							http://orcid.org/0000-0002-4142-7153				NCIT:C141441|OMIM:600512														https://github.com/monarch-initiative/mondo/issues/2614				owl:Class
HGNC:6572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011841	biolink:NamedThing	biotin-responsive basal ganglia disease		mondoexuq1wtf	basal ganglia disease, biotin-responsive|BBGD|encephalopathy, thiamine-responsive|biotin-thiamine-responsive basal ganglia disease|THMD2|BTBGD|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)											UMLS:C1843807|ICD10:G25.8|GARD:0010237|OMIM:607483|DOID:0050659|MESH:C537658|SCTID:703522009|ICD9:333.99|Orphanet:65284																		owl:Class
CHEBI:15956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002046	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018734	biolink:NamedThing	verrucous hemangioma	A skin hemangioma characterized by the presence of epidermal hyperplasia.	mondoexuq1wtf	verrucous keratotic hemangioma|verrucous keratotic hemangioma (morphologic abnormality)											NCIT:C4299|UMLS:CN242156|ICD10:D18.0|ICDO:9142/0|UMLS:C0334540|DOID:470|Orphanet:464318																		owl:Class
MONDO:0013148	biolink:NamedThing	Brugada syndrome 8	Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.	mondoexuq1wtf	HCN4 Brugada syndrome|Brugada syndrome 8|BRGDA8|Brugada syndrome caused by mutation in HCN4|Brugada syndrome type 8											UMLS:C2751083|OMIM:613123|DOID:0110225|ICD10:I49.8|MESH:C567732																		owl:Class
HGNC:16882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011712	biolink:NamedThing	van der Woude syndrome 2	Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.	mondoexuq1wtf	van der Woude syndrome caused by mutation in GRHL3|VWS2|Van Der Woude syndrome type 2|VAN DER Woude syndrome 2|van der Woude syndrome 2|GRHL3 van der Woude syndrome											UMLS:C1847604|GARD:0007846|OMIM:606713|MESH:C536529														https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2				owl:Class
HGNC:25839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013338	biolink:NamedThing	Charcot-Marie-Tooth disease recessive intermediate B	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	mondoexuq1wtf	KARS Charcot-Marie-Tooth disease|RI-CMTB|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive intermediate, B|Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B|Charcot-Marie-Tooth neuropathy recessive intermediate B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth disease, recessive Intermediate type B|CMTRIB|RI-CMT type B|autosomal recessive intermediate Charcot-Marie-Tooth disease type B											Orphanet:254334|OMIM:613641|UMLS:C3150897|ICD10:G60.0|GARD:0012454|DOID:0110204																		owl:Class
HGNC:6215	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008591	biolink:NamedThing	tremor-nystagmus-duodenal ulcer syndrome		mondoexuq1wtf	tremor nystagmus duodenal ulcer|tremor, NYSTAGMUS, and duodenal ulcer|Neuhauser-Daly-Magnelli syndrome|Neuhauser Daly Magnelli syndrome											Orphanet:3350|UMLS:C1860860|GARD:0003948|MESH:C536406|OMIM:190310																		owl:Class
HGNC:33848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:451507	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012271	biolink:NamedThing	mesoaxial synostotic syndactyly with phalangeal reduction	Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.	mondoexuq1wtf	syndactyly mesoaxial synostotic with phalangeal reduction|syndactyly type 9|syndactyly, type 9|syndactyly Malik-Percin type|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly, Malik-Percin type|MSSD											GARD:0010590|MESH:C563721|Orphanet:157801|SCTID:724170007|ICD10:Q70.0|UMLS:C1836206|ICD10:Q70.2|OMIM:609432																		owl:Class
HGNC:35126	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MFOMD_0000119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024608	biolink:NamedThing	dientamoebiasis	Gastrointestinal infection with organisms of the genus dientamoeba.	mondoexuq1wtf	intestinal trichomoniasis|Dientamoeba infectious disease|Dientamoeba disease or disorder|Dientamoebiases|Dientamoeba caused disease or disorder											MESH:D004030|DOID:946|SCTID:67915005																		owl:Class
NCBITaxon:43351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19316	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008720	biolink:NamedThing	congenital isolated adrenocorticotropic hormone deficiency	A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.	mondoexuq1wtf	adrenocorticotropic hormone deficiency|congenital isolated adrenocorticotropic hormone deficiency (disease)|IAD|ACTH deficiency, isolated|isolated ACTH deficiency|congenital isolated ACTH deficiency|isolated adrenocorticotropic hormone deficiency		congenital isolated adrenocorticotropic hormone deficiency (disease)									DOID:0080150|MESH:C535668|GARD:0005727|OMIM:201400|ICD10:E23.6|UMLS:C0342388|ICD9:255.41|EFO:1001979|SCTID:237692001|Orphanet:199296|HP:0011748																		owl:Class
HGNC:11596	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0031481	biolink:NamedThing	microcephaly, epilepsy, and diabetes syndrome 1		mondoexuq1wtf	MEDS1|microcephaly, epilepsy, and diabetes syndrome|primary microcephaly-epilepsy-permanent neonatal diabetes syndrome											Orphanet:306558|OMIM:614231|UMLS:C3280240																		owl:Class
HGNC:18550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008002	biolink:NamedThing	mirror movements 1	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.	mondoexuq1wtf	mirror movements 1 and/Or agenesis of the corpus callosum|familial congenital mirror movements caused by mutation in DCC|mirror movements type 1|MRMV1|bimanual synergia|mirror movements 1|DCC familial congenital mirror movements|mirror movements, congenital											OMIM:157600																		owl:Class
HGNC:2701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005929	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010588	biolink:NamedThing	exudative vitreoretinopathy 2, X-linked	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.	mondoexuq1wtf	NDP exudative vitreoretinopathy|exudative vitreoretinopathy 2, X-linked|exudative vitreoretinopathy caused by mutation in NDP|Evrx|Fevr, X-linked|exudative vitreoretinopathy, familial, 2|EVR2											OMIM:305390|DOID:0111413|MESH:C564428|UMLS:C1844579																		owl:Class
HGNC:7678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005704	biolink:NamedThing	Ciliophora infectious disease	Infections with protozoa of the phylum ciliophora.	mondoexuq1wtf	Ciliophora disease or disorder|Ciliophora caused disease or disorder											MESH:D016770|UMLS:C0085308|EFO:0007209																		owl:Class
NCBITaxon:5878	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012246	biolink:NamedThing	spinocerebellar ataxia type 26	Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	mondoexuq1wtf	spinocerebellar ataxia type 26|SCA26|spinocerebellar ataxia 26											GARD:0009995|SCTID:718769009|MESH:C537203|DOID:0050975|OMIM:609306|ICD10:G11.2|Orphanet:101112|UMLS:C1836395																		owl:Class
HGNC:3214	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005974	biolink:NamedThing	strongyloidiasis	An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.	mondoexuq1wtf	Anguillulosis|infection by Strongyloides|Anguilluliasis|disseminated strongyloidiasis											Orphanet:76|NCIT:C128398|ICD10:B78.9|MedDRA:10042254|ICD10:B78.7|EFO:0007501|ICD10:B78|UMLS:C0038463|MESH:D013322|DOID:10955|SCTID:187176005|UMLS:C0085810|GARD:0008195|ICD9:127.2|ICD10:B78.1|ICD10:B78.0|UMLS:C0348996																		owl:Class
NCBITaxon:6248	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014309	biolink:NamedThing	obesity due to CEP19 deficiency		mondoexuq1wtf	MOSPGF|morbid obesity and spermatogenic failure											UMLS:C3810324|Orphanet:397615|ICD10:E66.8|OMIM:615703																		owl:Class
HGNC:28209	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11628	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7907	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7164	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005460	biolink:NamedThing	swine influenza	An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.	mondoexuq1wtf	swine flu|H1N1 Influenza|Influenza A (H1N1)|H1N1 flu|Influenza A (H1N1) Virus infection|Swine influenza virus caused influenza|H1N1 Virus infection|Swine influenza virus influenza											DOID:0050211|EFO:0005226|SCTID:442696006|NCIT:C80444																		owl:Class
NCBITaxon:12845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008611	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001828	biolink:NamedThing	acquired color blindness	Non-heritable difficulty in distinguishing colors.	mondoexuq1wtf	acquired color vision deficiency|acquired color vision deficiencies|acquired color vision disorder											NCIT:C118712|SCTID:71676008|ICD10:H53.52|COHD:377865|DOID:13912|ICD9:368.55																		owl:Class
UBERON:0007196	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010235	biolink:NamedThing	X-linked intellectual disability-psychosis-macroorchidism syndrome		mondoexuq1wtf	mental retardation, X-linked 79|intellectual disability, X-linked, syndromic 13|X-linked intellectual disability with spasticity|X-linked intellectual disability 79|intellectual disability, X-linked 16|X-linked mental retardation 79|mental retardation, X-linked 16|Lindsay-Burn syndrome|intellectual disability with psychosis, pyramidal signs, and macroorchidism|mental retardation, X-linked, syndromic 13|MRXS13|mental retardation, X-linked, with spasticity|mental retardation with psychosis, pyramidal signs, and macroorchidism|X-linked mental retardation with spasticity|PPM-X|PPM-X syndrome|intellectual disability, X-linked 79|mental retardation, X-linked, syndromic type 13|intellectual disability psychosis macroorchidism|intellectual disability, X-linked, with spasticity|mental retardation psychosis macroorchidism|intellectual disability, X-linked, syndromic type 13|intellectual deficit, X-linked - psychosis - macroorchidism											ICD9:758.89|GARD:0003506|DOID:0060827|ICD10:F71.1|OMIM:300055|Orphanet:3077|SCTID:702356009														https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome				owl:Class
GO:0016175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:195	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0060781	biolink:NamedThing	Preeyasombat-Varavithya syndrome		mondoexuq1wtf	Fanconi syndrome caused by degraded tetracycline											MESH:C535269|UMLS:C2930859																		owl:Class
ECTO:9000364	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29205	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3327	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013147	biolink:NamedThing	dilated cardiomyopathy 1CC	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1CC|cardiomyopathy, dilated, type 1Cc|CMD1CC|NEXN familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in NEXN|dilated cardiomyopathy type 1CC											MESH:C567733|OMIM:613122|ICD10:I42.0|DOID:0110424|UMLS:C2751084																		owl:Class
HGNC:29557	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012056	biolink:NamedThing	Leber congenital amaurosis 9	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.	mondoexuq1wtf	Leber congenital amaurosis 9|amaurosis congenita of Leber, type 9|LCA9|Leber congenital amaurosis caused by mutation in NMNAT1|NMNAT1 Leber congenital amaurosis|Leber congenital amaurosis type 9											DOID:0110005|ICD10:H35.5|MESH:C536603|OMIM:608553|GARD:0009491														https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9				owl:Class
HGNC:17877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044327	biolink:NamedThing	polycystic liver disease 4 with or without kidney cysts	An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.	mondoexuq1wtf	polycystic liver disease 4 with or without kidney cysts|PCLD4											UMLS:CN818987|OMIM:617875																		owl:Class
HGNC:2592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0043195	biolink:NamedThing	rubinstein taybi like syndrome		mondoexuq1wtf	Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses											MESH:C535877|GARD:0004745|UMLS:C2931052																		owl:Class
HGNC:9020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1675	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0017099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021083	biolink:NamedThing	congenital fibrosis of extraocular muscles type 1	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.	mondoexuq1wtf	Feom1 locus|fibrosis of extraocular muscles, congenital, 1|CFEOM1|blepharoptosis with absent eye movements|ophthalmoplegia, congenital|fibrosis of extraocular muscles, congenital, 3B|KIF21A congenital fibrosis of extraocular muscles|congenital fibrosis of extraocular muscles caused by mutation in KIF21A											OMIM:135700																		owl:Class
HGNC:19349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18518	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4221	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11272	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18483	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022633	biolink:NamedThing	camptodactyly joint contractures and facial skeletal dysplasia		mondoexuq1wtf												MESH:C537969																		owl:Class
GO:0002250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014311	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 15	Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.	mondoexuq1wtf	Salih ataxia|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|SCAR15|spinocerebellar ataxia, autosomal recessive 15|autosomal recessive spinocerebellar ataxia type 15|spinocerebellar ataxia, autosomal recessive type 15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency											DOID:0080057|ICD10:G11.1|OMIM:615705|UMLS:C3810326|Orphanet:404499																		owl:Class
HGNC:28991	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013930	biolink:NamedThing	peroxisome biogenesis disorder 4A (Zellweger)		mondoexuq1wtf	PBD4A|peroxisome biogenesis disorder, complementation group 6|peroxisome biogenesis disorder 4A (Zellweger)|peroxisome biogenesis disorder, complementation group C|peroxisome biogenesis disorder, complementation group 4|classic peroxisome biogenesis disorder											DOID:0080479|MESH:C563301|UMLS:C3553936|NCIT:C155754|OMIM:614862														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
UBERON:0001756	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5501	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005987	biolink:NamedThing	toxascariasis	Infections with nematodes of the genus toxascaris.	mondoexuq1wtf	Toxascaris disease or disorder|Toxascaris caused disease or disorder|Toxascaris infectious disease											MESH:D017227|EFO:0007515|DOID:3107|UMLS:C0040522																		owl:Class
NCBITaxon:59263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1884	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007866	biolink:NamedThing	Bart-Pumphrey syndrome		mondoexuq1wtf	knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome|Bart-Pumphrey syndrome|knuckle pads, leukonychia, and sensorineural deafness|knuckle pads, leuconychia and sensorineural deafness											MESH:C537210|ICD9:759.89|GARD:0003125|SCTID:1271009|OMIM:149200|DOID:0050658|ICD10:Q82.8|Orphanet:2698																		owl:Class
MONDO:0014513	biolink:NamedThing	nemaline myopathy 10	Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.	mondoexuq1wtf	LMOD3 nemaline myopathy|nemaline myopathy 10|nemaline myopathy type 10|NEM10|nemaline myopathy caused by mutation in LMOD3											OMIM:616165|DOID:0110931|UMLS:C4015360																		owl:Class
HGNC:6649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000960	biolink:NamedThing	diabetic peripheral angiopathy	Diabetic angiopathy is a form of angiopathy associated with diabetic complications.	mondoexuq1wtf	diabetic vascular disorder|diabetic angiopathy											MESH:D003925|UMLS:C0011875|SCTID:127014009|UMLS:C0011871|NCIT:C35610|ICD9:443.81|EFO:1000896|ICD9:250.7|DOID:11713|DOID:10182																		owl:Class
HP:0000486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011431	biolink:NamedThing	MASS syndrome	MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.	mondoexuq1wtf	MASS syndrome|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings|overlap connective tissue disease|OCTD|MASS phenotype											OMIM:604308|Orphanet:99715|GARD:0008489|MESH:C536030|UMLS:C1858556														https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome				owl:Class
HGNC:3603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007402	biolink:NamedThing	creatine phosphokinase, elevated serum		mondoexuq1wtf	creatine phosphokinase, elevated serum|hyperCKemia, idiopathic|CPK, elevated serum											OMIM:123320																		owl:Class
HGNC:10379	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013745	biolink:NamedThing	Joubert syndrome 14	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.	mondoexuq1wtf	Joubert syndrome 14|Joubert syndrome type 14|TMEM237 Joubert syndrome|JBTS14|Joubert syndrome caused by mutation in TMEM237											UMLS:C3280766|DOID:0110983|OMIM:614424																		owl:Class
HGNC:14432	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006692	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:139	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010912	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.	mondoexuq1wtf	CFEOM3A|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Feom3 locus|congenital fibrosis of extraocular muscles caused by mutation in TUBB3|TUBB3 congenital fibrosis of extraocular muscles											MESH:C567572|UMLS:C2748801|OMIM:600638																		owl:Class
HGNC:20772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008846	biolink:NamedThing	atransferrinemia	Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.	mondoexuq1wtf	congenital hypotransferrinemia|atransferrinemia|familial hypotransferrinemia|hypotransferrinemia, familial|transferrin serum level quantitative trait locus 1|congenital atransferrinemia|hereditary atransferrinemia											DOID:0050649|UMLS:C0521802|MESH:C538259|OMIM:209300|GARD:0009595|Orphanet:1195|NCIT:C125693|SCTID:111571009|ICD10:E88.0														https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia				owl:Class
HGNC:11740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9462	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14906	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014780	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 6	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.	mondoexuq1wtf	HPMRS6|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia with mental retardation syndrome type 6|glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with mental retardation syndrome 6|hyperphosphatasia with intellectual disability syndrome 6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome type 6|PIGY hyperphosphatasia-intellectual disability syndrome											OMIM:616809|UMLS:C4225201																		owl:Class
HGNC:28213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15459	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9751	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21253	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005491	biolink:NamedThing	Chagas cardiomyopathy	A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.	mondoexuq1wtf	Trypanosoma cruzi cardiomyopathy|Trypanosoma cruzi caused cardiomyopathy											ICD9:086.0|SCTID:998008|MESH:D002598|EFO:0005529																		owl:Class
HGNC:12679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000335	biolink:NamedThing	parenchymatous neurosyphilis	A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.	mondoexuq1wtf												DOID:0050490																		owl:Class
HGNC:25443	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2898	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016267	biolink:NamedThing	undifferentiated carcinoma of the corpus uteri	Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.	mondoexuq1wtf	body of uterus undifferentiated carcinoma|endometrial undifferentiated carcinoma											ICD10:C50|Orphanet:213721																		owl:Class
GO:1903510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012947	biolink:NamedThing	intellectual disability, autosomal dominant 4	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.	mondoexuq1wtf	autosomal dominant mental retardation 4|intellectual disability, autosomal dominant 4|autosomal dominant intellectual disability 4|KIRREL3 autosomal dominant non-syndromic intellectual disability|MRD4|mental retardation, autosomal dominant 4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|mental retardation, autosomal dominant type 4|autosomal dominant non-syndromic intellectual disability 4|intellectual disability, autosomal dominant type 4											MESH:C567240|OMIM:612581|DOID:0070034|UMLS:C2675487																		owl:Class
HGNC:23204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9608	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16841	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14294	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003846	biolink:NamedThing	viral esophagitis	Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.	mondoexuq1wtf	Viruses esophagitis (disease)|viral esophagitis|Viruses caused esophagitis (disease)											DOID:6297|SCTID:235603003|UMLS:C0341110|NCIT:C27108																		owl:Class
HGNC:3219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013970	biolink:NamedThing	branched-chain keto acid dehydrogenase kinase deficiency	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	mondoexuq1wtf	autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|branched-chain KETO acid dehydrogenase KINASE deficiency|branched-chain keto acid dehydrogenase kinase deficiency|BCKDKD|Bckdk deficiency|BCKDK deficiency											Orphanet:308410|DOID:0090126|UMLS:C3554078|OMIM:614923|ICD10:E71.1																		owl:Class
HGNC:16902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2978	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000006427	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012683	biolink:NamedThing	pontocerebellar hypoplasia type 6	Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.	mondoexuq1wtf	fatal infantile encephalopathy with mitochondrial respiratory chain defects|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|PCH6|pontocerebellar hypoplasia, type 6|encephalopathy fatal infantile with mitochondrial respiratory chain defects|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia											MESH:C548074|DOID:0060275|SCTID:718606005|ICD10:Q04.3|OMIM:611523|Orphanet:166073|GARD:0010710|UMLS:C1969084														https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6				owl:Class
HGNC:21406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2560602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:42415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014730	biolink:NamedThing	microcephaly 16, primary, autosomal recessive		mondoexuq1wtf	microcephaly 16, primary, autosomal recessive; MCPH16|MCPH16|microcephaly 16, primary, autosomal recessive											DOID:0070289|UMLS:C4225249|OMIM:616681																		owl:Class
HGNC:29101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:52283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009107	biolink:NamedThing	diastrophic dysplasia	Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).	mondoexuq1wtf	DTD|diastrophic dysplasia, Broad bone-Platyspondylic variant|DD|diastrophic dysplasia|diastrophic dwarfism											SCTID:58561002|DOID:14687|ICD10:Q77.5|MESH:C536170|ICD9:756.89|OMIM:222600|GARD:0006275|Orphanet:628																		owl:Class
MONDO:0014589	biolink:NamedThing	maturity-onset diabetes of the young type 13	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.	mondoexuq1wtf	maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|MODY, type 13|MODY type 13|MODY13|KCNJ11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 13											OMIM:616329|DOID:0111110|UMLS:C4225365																		owl:Class
HGNC:6257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5721	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0048598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012724	biolink:NamedThing	familial cold autoinflammatory syndrome 2	An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.	mondoexuq1wtf	NLRP12 familial cold autoinflammatory syndrome|NAPS12|NALP12-associated hereditary periodic fever syndrome|NLRP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome 2|familial cold autoinflammatory syndrome caused by mutation in NLRP12|FCAS2|familial cold autoinflammatory syndrome type 2											ICD10:E85.0|OMIM:611762|NCIT:C119043|Orphanet:247868|UMLS:C3897034|UMLS:C2673198|MESH:C567090|DOID:0090063																		owl:Class
HGNC:22938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0600003	biolink:NamedThing	bacterial hemorrhagic fever	A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.	mondoexuq1wtf	haemorrhagic fever, bacterial|bacterial haemorrhagic fever																													owl:Class
HGNC:11244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014143	biolink:NamedThing	Noonan syndrome 8	Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.	mondoexuq1wtf	NS8|RIT1 Noonan syndrome|Noonan syndrome caused by mutation in RIT1|Noonan syndrome type 8|Noonan syndrome 8											UMLS:C3809233|DOID:0060586|OMIM:615355																		owl:Class
HGNC:10023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003729	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001410	biolink:NamedThing	postmenopausal atrophic vaginitis	Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.	mondoexuq1wtf	atrophic vaginitis|senile vaginitis											ICD9:627.3|UMLS:C0156409|EFO:1001271|SCTID:52441000|COHD:201078|DOID:11968|ICD10:N95.2|MESH:D059268|UMLS:C0221392																		owl:Class
HP:0025132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008329	biolink:NamedThing	autosomal dominant pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.	mondoexuq1wtf	pseudohypoaldosteronism type 1 autosomal dominant|renal PHA1|pseudohypoaldosteronism type 1, dominant|PHA1A|autosomal dominant pseudohypoaldosteronism type 1|PHA I, autosomal dominant|renal pseudohypoaldosteronism type 1|autosomal dominant PHA 1|pseudohypoaldosteronism, type I, autosomal dominant											ICD10:N25.8|UMLS:C1449842|OMIM:177735|NCIT:C126810|Orphanet:171871|DOID:0060855|GARD:0009145														https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1				owl:Class
HGNC:7979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018674	biolink:NamedThing	IgG4-related submandibular gland disease	A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.	mondoexuq1wtf	Kuttner's tumor|Kuttner tumor|chronic sclerosing sialadenitis|Küttner tumor|IgG4-related sialadenitis					Editor note: check this. Unification based on Kuttner tumor synonym						NCIT:C82887|SCTID:448131008|Orphanet:449432|ICD10:K11.2																		owl:Class
HGNC:2529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008334	biolink:NamedThing	psoriasis 1, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.	mondoexuq1wtf	susceptibility to psoriasis 1|HLA-C psoriasis|psoriasis caused by mutation in HLA-C|psoriasis 1, susceptibility to|PSORS1											OMIM:177900|DOID:0111286																		owl:Class
HGNC:4933	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12058	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7128	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014181	biolink:NamedThing	amyotrophic lateral sclerosis type 20	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 20|ALS20|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 20|amyotrophic lateral sclerosis caused by mutation in HNRNPA1											UMLS:C3715156|DOID:0060211|OMIM:615426																		owl:Class
HGNC:5031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100288	biolink:NamedThing	enhanced S-cone syndrome	An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.	mondoexuq1wtf	enhanced S-cone syndrome|retinoschisis with early nyctalopia|ESCS							http://orcid.org/0000-0001-5208-3432				MESH:C564835|UMLS:C1849394|DOID:0090059|ICD10:H35.5|OMIM:268100																		owl:Class
CHEBI:35143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1936	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009714	biolink:NamedThing	myosclerosis	Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.	mondoexuq1wtf	myosclerosis, autosomal recessive|congenital myosclerosis, Löwenthal type|myopathy, myosclerotic|congenital myosclerosis, LC6wenthal type|myosclerosis, congenital, of Lowenthal											SCTID:763895001|MedDRA:10064584|ICD10:G71.8|Orphanet:289380|MESH:C564968|OMIM:255600																		owl:Class
HGNC:2212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0048565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0002092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004848	biolink:NamedThing	ulcerative stomatitis	Inflammation of the mouth mucosa associated with the presence of ulcers.	mondoexuq1wtf	ulcerative stomatitis											ICD9:528.00|NCIT:C35039|DOID:9673|ICD10:K12.1|UMLS:C0038367|SCTID:450005																		owl:Class
HP:0000155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009590	biolink:NamedThing	metachromatic leukodystrophy due to saposin b deficiency		mondoexuq1wtf	metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency|saposin B deficiency											UMLS:C0268262|SCTID:68390005|MESH:C562609|OMIM:249900|GARD:0010674														https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency				owl:Class
MONDO:0011430	biolink:NamedThing	pulverulent cataract	A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.	mondoexuq1wtf	cataract 2, multiple types|cataract 2 multiple types|cataract, Coppock-like|pulverulent cataract|CTRCT2|Coppock-like cataract|cataract 2 multiple types with or without microcornea|cataract 2, multiple types, with or without microcornea|dusty cataract											Orphanet:98984|OMIM:604307|DOID:0110235|Orphanet:98986|UMLS:C1852438|UMLS:C1833118|MESH:C565133|UMLS:CN207240|ICD10:Q12.0																		owl:Class
HGNC:2410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:55824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012925	biolink:NamedThing	Diamond-Blackfan anemia 5	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.	mondoexuq1wtf	Diamond-Blackfan Anemia type 5|Diamond-Blackfan anemia 5|DBA5|Diamond-Blackfan anemia caused by mutation in RPL35A|RPL35A Diamond-Blackfan anemia											MESH:C567280|OMIM:612528|UMLS:C2675859																		owl:Class
HGNC:10345	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010427	biolink:NamedThing	syndromic X-linked intellectual disability Raymond type	A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.	mondoexuq1wtf	mental retardation, X-linked, syndromic, Raymond type|intellectual disability, X-linked, syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type|mental retardation, X-linked syndromic, Raymond type|MRXSR											OMIM:300799|DOID:0060824|ICD10:Q87.8|UMLS:C3275406																		owl:Class
HGNC:18475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002319	biolink:NamedThing	phosphorus metabolism disease	A metabolic disorder that affects the phosphate homeostasis.	mondoexuq1wtf	phosphorus metabolism disorder|disorder of phosphorus metabolism|phosphorus disorder|phosphorus metabolic disorder											DOID:2485|UMLS:C0031707|ICD10:E83.3|NCIT:C97095|ICD9:275.3|SCTID:87049008|MESH:D010760|COHD:435788																		owl:Class
GO:0006793	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002721	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010148	biolink:NamedThing	Mounier-Kuhn syndrome	Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.	mondoexuq1wtf	congenital tracheobronchomegaly|tracheobronchomegaly|Mounier-Kuhn syndrome|Mounier Kuhn syndrome|idiopathic tracheobronchomegaly|Mounier-Kühn syndrome											UMLS:C0040587|NCIT:C85196|OMIM:275300|UMLS:C2713583|GARD:0005234|SCTID:57451009|GARD:0003793|MedDRA:10044316|ICD9:748.3|MESH:D014137|Orphanet:3347|ICD10:J98.0																		owl:Class
MONDO:0016151	biolink:NamedThing	qualitative or quantitative defects of perlecan		mondoexuq1wtf												Orphanet:207101																		owl:Class
PR:000008826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000972	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001810	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18183	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054743	biolink:NamedThing	polycystic liver disease 3 with or without kidney cysts	Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.	mondoexuq1wtf	polycystic liver disease 3 with or without kidney cysts|PCLD3											OMIM:617874|UMLS:CN818986																		owl:Class
HGNC:23161	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018738	biolink:NamedThing	benign metanephric tumour	A benign neoplasm that involves the metanephros.	mondoexuq1wtf												ICD10:D30.0|UMLS:CN242075|Orphanet:464359																		owl:Class
UBERON:0000081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011466	biolink:NamedThing	distal myopathy, Welander type	Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	mondoexuq1wtf	distal myopathy, Swedish type|WDM|muscular dystrophy, distal, late-onset, autosomal dominant|myopathy, distal, Swedish|Welander distal myopathy|Welander distal myopathy, Swedish type											UMLS:CN205368|ICD10:G71.0|GARD:0005552|OMIM:604454|Orphanet:603																		owl:Class
HGNC:11802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9936	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014799	biolink:NamedThing	cataract 45	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.	mondoexuq1wtf	early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract 45|SIPA1L3 early-onset non-syndromic cataract|CTRCT45|cataract type 45											OMIM:616851|DOID:0110262|UMLS:C4225182|ICD10:Q12.0																		owl:Class
HGNC:23801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001162	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6121	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17142	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006929	biolink:NamedThing	Proteus infectious disease	Infections with bacteria of the genus proteus.	mondoexuq1wtf	Proteus <enterobacteria> infectious disease|Proteus infection|infection, Proteus|Proteus <enterobacteria> caused disease or disorder|infections, Proteus|Proteus <enterobacteria> disease or disorder											EFO:1001130|MESH:D011512|UMLS:C0033700|SCTID:186437007																		owl:Class
NCBITaxon:583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:32008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001894	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007265	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010899	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 1	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.	mondoexuq1wtf	epilepsy, nocturnal frontal lobe, type 1|epilepsy, nocturnal frontal lobe, 1|ENFL1|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|nocturnal frontal lobe epilepsy 1|autosomal dominant nocturnal frontal lobe epilepsy type 1|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4											UMLS:C1838049|OMIM:600513|DOID:0060682|MESH:C563930																		owl:Class
HGNC:1958	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25240	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18505	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1955	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000554	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021582	biolink:NamedThing	lentigo	A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.	mondoexuq1wtf	lentiginosis|lentigo					Editor note: NCIT classifies as non-neoplastic, check this						SCTID:402624000|NCIT:C3159																		owl:Class
GO:0097325	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2810	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11448	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007343	biolink:NamedThing	isolated congenital digital clubbing	Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.	mondoexuq1wtf	isolated congenital acropachy|digital clubbing, isolated congenital|clubbing of digits|isolated congenital nail clubbing|acropachy, hereditary											ICD10:Q68.1|OMIM:119900|Orphanet:217059																		owl:Class
UBERON:0001004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021569	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.	mondoexuq1wtf	Hauptmann-Thannhauser muscular dystrophy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|muscular dystrophy, limb-girdle type 1B|proximal muscular dystrophy type 1B|EDMD2|LMNA autosomal dominant limb-girdle muscular dystrophy|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|EMD2|muscular dystrophy, limb-girdle, type 1B|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|Emery-Dreifuss muscular dystrophy, autosomal dominant|muscular dystrophy, proximal, type 1B|scapuloilioperoneal atrophy with cardiopathy|limb-girdle muscular dystrophy type 1B|limb-girdle muscular dystrophy due to lamin A/C deficiency|benign scapuloperoneal muscular dystrophy with cardiomyopathy|LGMD1B|autosomal dominant limb-girdle muscular dystrophy type 1B											SCTID:240072005|DOID:0110301|ICD9:425.4|GARD:0010230|ICD10:G71.0|OMIM:181350|SCTID:718178006|UMLS:C0410190|OMIM:159001|Orphanet:264|MESH:C535898|UMLS:C1834653|DOID:0070247|NCIT:C126745														https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b				owl:Class
MONDO:0009610	biolink:NamedThing	3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.	mondoexuq1wtf	3MG CoA hydratase deficiency|MGA type I|MGA1|3-methylglutaconyl-Coa hydratase deficiency|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|3 methylglutaconyl CoA hydratase deficiency|3MG-CoA hydratase deficiency|3 alpha methylglutaconic aciduria type I|Mga, type 1|3-METHYLGLUTACONIC aciduria, type I|3-methylglutaconic aciduria type I|3-Methylglutaconic aciduria, type 1|AUH 3-methylglutaconic aciduria|3-MGCA type I (3-MGCA-1)|3-Mg-Coa-hydratase deficiency|3-methylglutaconic aciduria caused by mutation in auh|3-methylglutaconic aciduria caused by mutation in AUH|auh 3-methylglutaconic aciduria|MGCA1|3 methylglutaconic aciduria type 1|3-methylglutaconyl-CoA hydratase deficiency											DOID:0110002|MESH:C562801|UMLS:C0342728|GARD:0010321|OMIM:250950|SCTID:237951008|NCIT:C98683|ICD10:E71.1|UMLS:C0342727|Orphanet:67046																		owl:Class
HGNC:890	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012826	biolink:NamedThing	scoliosis, isolated, susceptibility to, 4		mondoexuq1wtf	scoliosis, isolated, susceptibility to, 4|IS4											OMIM:612238																		owl:Class
MONDO:0012022	biolink:NamedThing	orofacial cleft 4		mondoexuq1wtf	orofacial cleft 4|OFC4|cleft lip with or without cleft palate, nonsyndromic, 4											MESH:C564251|DOID:0080398|UMLS:C1842143|OMIM:608371																		owl:Class
MONDO:0011517	biolink:NamedThing	pseudohyperaldosteronism type 2	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.	mondoexuq1wtf	hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy|hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy											Orphanet:88660|OMIM:605115|ICD10:I15.1|UMLS:C1854631|SCTID:766937004|MESH:C565359																		owl:Class
MONDO:0000245	biolink:NamedThing	tinea imbricata	A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.	mondoexuq1wtf												UMLS:C0040255|DOID:0050116|SCTID:240699006|ICD10:B35.5																		owl:Class
NCBITaxon:63419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14374	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:37816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013733	biolink:NamedThing	accelerated tumor formation, susceptibility to		mondoexuq1wtf	accelerated tumor formation, susceptibility to|ACTFS											OMIM:614401																		owl:Class
HGNC:6973	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024343	biolink:NamedThing	pityriasis simplex		mondoexuq1wtf	pityriasis simplex|dandruff|furfuracea											SCTID:200767005|ICD9:690.18																		owl:Class
HP:0001051	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6719	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012339	biolink:NamedThing	celiac disease, susceptibility to, 4	Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.	mondoexuq1wtf	CELIAC4|MYO9B celiac disease|celiac disease, susceptibility to, type 4|susceptibility to celiac disease 4|celiac disease caused by mutation in MYO9B|gluten-sensitive enteropathy, susceptibility to, 4|celiac disease, susceptibility to, 4											OMIM:609753																		owl:Class
HGNC:7609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006629	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4624	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013141	biolink:NamedThing	autosomal dominant macrothrombocytopenia TUBB1-related	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.	mondoexuq1wtf	autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|TUBB1 autosomal dominant macrothrombocytopenia|macrothrombocytopenia, autosomal dominant, TUBB1-related											MESH:C567747|OMIM:613112|DOID:0090102|UMLS:C2751259|ICD10:D69.4																		owl:Class
HGNC:16257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001601	biolink:NamedThing	Plasmodium ovale malaria	An malaria caused by infection with Plasmodium ovale.	mondoexuq1wtf	Malariaby Plasmodium ovale|ovale malaria											DOID:12919|ICD10:B53.0|UMLS:C0152072|ICD9:084.3|SCTID:19341001																		owl:Class
NCBITaxon:36330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014167	biolink:NamedThing	epilepsy, familial adult myoclonic, 5	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.	mondoexuq1wtf	cortical myoclonic tremor with epilepsy, familial, 5|epilepsy, familial adult myoclonic, type 5|CNTN2 epilepsy, familial adult myoclonic|epilepsy, familial ADULT myoclonic, 5|epilepsy, familial adult myoclonic, 5|FAME5|epilepsy, familial adult myoclonic caused by mutation in CNTN2											UMLS:C3809374|OMIM:615400|DOID:0111691																		owl:Class
HGNC:2172	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18398	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2770	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004681	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011719	biolink:NamedThing	gastrointestinal stromal tumor	Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.	mondoexuq1wtf	gant|gastrointestinal stromal neoplasm|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumor|gastrointestinal stromal sarcoma|gist|gastrointestinal stromal tumor (gist)|gastrointestinal stromal tumors											ONCOTREE:GIST|ICD10:C26.9|ICDO:8936/1|OMIM:606764|SCTID:420120006|UMLS:C3179349|Orphanet:44890|MedDRA:10051066|DOID:9253|UMLS:C0238198|NCIT:C3868|MESH:D046152|GARD:0008598																		owl:Class
UBERON:0001785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009636	biolink:NamedThing	mitochondrial DNA depletion syndrome 3	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.	mondoexuq1wtf	MTDPS3|mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|mitochondrial DNA depletion syndrome type 3|DGUOK mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome caused by mutation in DGUOK											DOID:0080121|UMLS:C3151513|Orphanet:279934|OMIM:251880|UMLS:C4310935																		owl:Class
HGNC:2858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MFOMD_0000101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0035773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002150	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054698	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 1		mondoexuq1wtf	proteasome-associated autoinflammatory syndrome 1, digenic|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|PRAAS1|autoinflammation, lipodystrophy, and dermatosis syndrome|Nakajo-Nishimura syndrome|proteasome-associated autoinflammatory syndrome 1|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|JMP syndrome											OMIM:256040																		owl:Class
HGNC:9545	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008378	biolink:NamedThing	retinitis pigmentosa 9	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.	mondoexuq1wtf	retinitis pigmentosa type 9|retinitis pigmentosa 9|retinitis pigmentosa caused by mutation in RP9|RP9|RP9 retinitis pigmentosa|RP 9											DOID:0110387|GARD:0010382|UMLS:C1867300|MESH:C566716|OMIM:180104|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9				owl:Class
HGNC:10288	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000108	biolink:NamedThing	bacteremia, susceptibility		mondoexuq1wtf												UMLS:C3280646|DC:0000476																		owl:Class
MONDO:0005563	biolink:NamedThing	nut midline carcinoma	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.	mondoexuq1wtf	Midline carcinoma of children and Young adults with NUT rearrangement|NUT Midline carcinoma|carcinoma with t(15;19)(q13;p13.1) translocation|NUT midline carcinoma of the head and neck|nuclear protein in testis midline carcinoma|NMC|NUT carcinoma											UMLS:CN237663|Orphanet:443167|ICD10:C80.9|EFO:0005783|DOID:0060463|ONCOTREE:NMCHN|NCIT:C45716|Wikipedia:NUT_midline_carcinoma|UMLS:C1707291																		owl:Class
HGNC:67	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018525	biolink:NamedThing	solid pseudopapillary carcinoma of pancreas	A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.	mondoexuq1wtf	solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary carcinoma of the pancreas|pancreatic solid pseudopapillary carcinoma|solid pseudopapillary carcinoma of pancreas											ICD10:C25.7|EFO:1000542|ICD10:C25.2|ICD10:C25.1|ICD10:C25.8|Orphanet:424065|ICD10:C25.0|DOID:6827|UMLS:C1336029|ICDO:8452/3|NCIT:C5728																		owl:Class
MONDO:0008669	biolink:NamedThing	vulvovaginitis, allergic seminal		mondoexuq1wtf	vulvovaginitis, allergic seminal											MESH:C565993|UMLS:C1860357|OMIM:193450																		owl:Class
UBERON:0006530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21150	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3098	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000995	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1149	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002434	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:41013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000321	biolink:NamedThing	typhoidal tularemia	A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.	mondoexuq1wtf												DOID:0050383|SCTID:398554008|UMLS:C0473876																		owl:Class
UBERON:0022276	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10923	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018362	biolink:NamedThing	persistent idiopathic facial pain		mondoexuq1wtf	AFP|atypical facial pain|PIFP					Editor note: TODO add HPO class						ICD10:G50.1|COHD:137856|Orphanet:398147																		owl:Class
HP:0000648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014025	biolink:NamedThing	lower motor neuron syndrome with late-adult onset		mondoexuq1wtf	SMAJ|spinal muscular atrophy, Jokela type											Orphanet:276435|UMLS:C3554398|OMIM:615048|ICD10:G12.1																		owl:Class
MONDO:0017859	biolink:NamedThing	colchicine poisoning	A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.	mondoexuq1wtf												ICD10:T50.4|ICD9:974.7|Orphanet:31824|SCTID:24354007|UMLS:CN203894																		owl:Class
CHEBI:23359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2961	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012538	biolink:NamedThing	nemaline myopathy 7	Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.	mondoexuq1wtf	nemaline myopathy type 7|nemaline myopathy caused by mutation in CFL2|NEM7|nemaline myopathy 7, autosomal recessive|CFL2 nemaline myopathy|nemaline myopathy 7											MESH:C565198|DOID:0110934|OMIM:610687|UMLS:C1853154																		owl:Class
HGNC:1875	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5476	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007289	biolink:NamedThing	cataract 13 with adult I phenotype	A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.	mondoexuq1wtf	cataract 13 with ADULT I phenotype|cataract 13 with adult I phenotype|CTRCT13					Not in the OMIM series.						UMLS:C3805373|ICD10:Q12.0|OMIM:116700|DOID:0110242																		owl:Class
HGNC:4204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007963	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 1		mondoexuq1wtf	melanoma, cutaneous malignant, susceptibility to, 1|melanoma, familial|melanoma, cutaneous malignant|B-K Mole syndrome|CMM1|familial atypical Mole-malignant melanoma syndrome|melanoma, malignant|dysplastic Nevus syndrome, hereditary											OMIM:155600|SCTID:254819008																		owl:Class
MONDO:0008197	biolink:NamedThing	parietal foramina 1	Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.	mondoexuq1wtf	parietal foramina 1|PFM|catlin Marks|MSX2 parietal foramina|cranium bifidum occultum|parietal foramina, symmetric|parietal foramina caused by mutation in MSX2|PFM1|foramina parietalia permagna|cranium bifidum, hereditary|parietal foramina											OMIM:168500																		owl:Class
HGNC:7392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000093	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008047	biolink:NamedThing	episodic ataxia type 1	Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.	mondoexuq1wtf	ataxia, episodic, with myokymia|episodic ataxia with myokymia|myokymia 1 with or without hypomagnesemia|acetazolamide-responsive periodic ataxia|familial paroxysmal kinesigenic ataxia and continuous myokymia|episodic ataxia, type 1|myokymia 1|EA1|hereditary episodic ataxia caused by mutation in KCNA1|paroxysmal ataxia with neuromyotonia, hereditary|Isaacs-Mertens syndrome|KCNA1 hereditary episodic ataxia|hereditary paroxysmal ataxia with neuromyotonia|myokymia with periodic ataxia|continuous muscle fiber activity, hereditary|continuous muscle fiber activity											OMIM:160120|Orphanet:37612|DOID:0050989|SCTID:421182009|UMLS:C1719788|UMLS:CN042654|ICD10:G11.8																		owl:Class
HGNC:6218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020705	biolink:NamedThing	neural tube defects, susceptibility to		mondoexuq1wtf	NTD|spina bifida|neural tube defects, SUSCEPTIBILITY to											OMIM:182940																		owl:Class
HGNC:21606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6314	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013559	biolink:NamedThing	Hermansky-Pudlak syndrome 7	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.	mondoexuq1wtf	Hermansky-Pudlak syndrome caused by mutation in DTNBP1|HPS7|DTNBP1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 7|Hermansky-Pudlak syndrome 7											UMLS:C3279756|DOID:0060545|Orphanet:231531|ICD10:E70.3|OMIM:614076																		owl:Class
HGNC:17328	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008246	biolink:NamedThing	pigmented paravenous retinochoroidal atrophy	Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.	mondoexuq1wtf	PPRCA|PPCRA|pigmented paravenous chorioretinal atrophy											OMIM:172870|DOID:0111541|SCTID:723450004|Orphanet:251295|ICD10:H35.5|UMLS:C1868310|MESH:C566801																		owl:Class
HGNC:2343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022151	biolink:NamedThing	Chitty Hall Webb syndrome		mondoexuq1wtf	bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay											MESH:C535929|SCTID:725103004|UMLS:C2931066|GARD:0001277														https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome				owl:Class
MONDO:0007595	biolink:NamedThing	factor VII and Factor VIII, combined deficiency of		mondoexuq1wtf	familial multiple coagulation Factor deficiency 4|factor 7 and Factor VIII, combined deficiency of|multiple coagulation Factor deficiency 4|factor VII and Factor VIII, combined deficiency of											OMIM:134430|UMLS:C1851377|MESH:C565025																		owl:Class
HGNC:4976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007411	biolink:NamedThing	cutis laxa, autosomal dominant 1	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.	mondoexuq1wtf	autosomal dominant cutis laxa caused by mutation in ELN|ADCL1|ELN autosomal dominant cutis laxa|cutis laxa, autosomal dominant type 1|cutis laxa, autosomal dominant 1|autosomal dominant cutis laxa 1											DOID:0070130|OMIM:123700|UMLS:C3276539|ICD10:Q82.8																		owl:Class
HGNC:4519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013532	biolink:NamedThing	protein Z deficiency		mondoexuq1wtf	protein Z deficiency											OMIM:614024|UMLS:C3151465																		owl:Class
HGNC:9460	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25355	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:OBA_1001084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019915	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012146	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 3	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.	mondoexuq1wtf	UNC13D genetic hemophagocytic lymphohistiocytosis|HLH3|Hlh3|FHL3|hemophagocytic lymphohistiocytosis, familial, type 3|Hplh3|hemophagocytic lymphohistiocytosis, familial, 3|HPLH3|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D|familial hemophagocytic lymphohistiocytosis type 3											MESH:C537251|GARD:0009928|DOID:0110923|OMIM:608898														https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3				owl:Class
HGNC:23147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7549	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30972	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18667	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2345	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007290	biolink:NamedThing	cataract 5 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.	mondoexuq1wtf	CTRCT5|cataract 5, multiple types|cataract, Marner type|cataract (disease) caused by mutation in HSF4|cataract, lamellar|HSF4 cataract (disease)											MESH:C535342|DOID:0110255|ICD10:Q12.0|OMIM:116800																		owl:Class
HGNC:5227	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002350	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013994	biolink:NamedThing	Joubert syndrome 20	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	mondoexuq1wtf	TMEM231 Joubert syndrome|Joubert syndrome caused by mutation in TMEM231|JBTS20|Joubert syndrome 20|Joubert syndrome type 20											OMIM:614970|UMLS:C3554235|DOID:0110989																		owl:Class
HGNC:37234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:987	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014690	biolink:NamedThing	dyskeratosis congenita, autosomal dominant 6	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.	mondoexuq1wtf	dyskeratosis congenita, autosomal dominant type 6|autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal dominant 6|DKCA6|dyskeratosis congenita, autosomal recessive 7											DOID:0070023|OMIM:616553|UMLS:C4225284																		owl:Class
HGNC:25070	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013554	biolink:NamedThing	psoriasis 13, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	mondoexuq1wtf	psoriasis 13, susceptibility to|psoriasis caused by mutation in TRAF3IP2|PSORS13|TRAF3IP2 psoriasis|susceptibility to psoriasis 13											OMIM:614070|DOID:0111287																		owl:Class
HGNC:1343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:32952	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018769	biolink:NamedThing	isosporiasis	An intestinal infection with Isospora belli.	mondoexuq1wtf	infection by Isospora belli and Isospora hominis|Cystoisospora belli caused disease or disorder|Isosporosis|Cystoisospora belli disease or disorder|Cystoisospora belli infectious disease|cystoisosporiasis											DOID:2112|Orphanet:472|ICD10:A07.3|NCIT:C4076|MedDRA:10023076|GARD:0003033|EFO:0007232|MESH:D021865|UMLS:C0311386|SCTID:371423007																		owl:Class
HGNC:12712	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012869	biolink:NamedThing	intellectual disability, autosomal dominant 22	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.	mondoexuq1wtf	mental retardation, autosomal dominant 22|MRD22|intellectual disability, autosomal dominant 22|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|intellectual disability, autosomal dominant type 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|chromosome 1Qter deletion syndrome|autosomal dominant mental retardation 22|mental retardation, autosomal dominant type 22|autosomal dominant non-syndromic intellectual disability 22|chromosome 1Q43-q44 deletion syndrome|autosomal dominant intellectual disability 22											MESH:C567346|OMIM:612337|DOID:0070052|UMLS:C3808184																		owl:Class
HGNC:13030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011877	biolink:NamedThing	autosomal dominant osteopetrosis 1	Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	mondoexuq1wtf	osteopetrosis, autosomal dominant type 1|LRP5 osteopetrosis (disease)|osteopetrosis autosomal dominant type 1|osteopetrosis (disease) caused by mutation in LRP5|osteopetrosis, autosomal dominant 1|autosomal dominant osteopetrosis type 1|OPTA1|osteopetrosis, autosomal dominant, type 1											GARD:0004151|MESH:C536056|DOID:0110937|ICD10:Q78.2|Orphanet:2783|OMIM:607634|UMLS:C1843330																		owl:Class
HGNC:24464	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020607	biolink:NamedThing	Liddle syndrome 1	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.	mondoexuq1wtf	Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome|Liddle syndrome|Liddle syndrome 1|Pseudoaldosteronism|LIDLS1											OMIM:177200																		owl:Class
HGNC:10600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0015777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13875	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001635	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017638	biolink:NamedThing	manganese poisoning	Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)	mondoexuq1wtf	manganese intoxication|Manganism											Orphanet:306682|ICD10:T57.2|EFO:1001808|ICD9:503|MESH:D020149|MedDRA:10058951|SCTID:88687001																		owl:Class
CHEBI:25154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009607	biolink:NamedThing	methionine adenosyltransferase deficiency	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.	mondoexuq1wtf	isolated persistent hypermethioninemia|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency|MAT I/III deficiency|Mat I/III deficiency|methionine adenosyltransferase I/III deficiency|brain demyelination due to methionine adenosyltransferase deficiency|MAT deficiency											OMIM:250850|Orphanet:168598|GARD:0008397|ICD10:E72.1|NCIT:C123435																		owl:Class
HGNC:6903	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17098	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1857	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010214	biolink:NamedThing	xeroderma pigmentosum variant type	Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.	mondoexuq1wtf	xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum, variant type|XPV|photosensitivity with defective DNA synthesis|xeroderma pigmentosum variant											ICD10:Q82.1|MESH:C536766|GARD:0005630|Orphanet:90342|DOID:0110847|UMLS:C1848410|NCIT:C141367|OMIM:278750														https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type				owl:Class
HGNC:9181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016937	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011758	biolink:NamedThing	Hurler syndrome	Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.	mondoexuq1wtf	Hurler disease|mucopolysaccharidosis type 1H|MPS1-H|MPSIH|mucopolysaccharidosis type IH|Hurler syndrome|MPS1H|MPS I H|mucopolysaccharidosis IH											OMIM:607014|GARD:0012559|DOID:0111390|Orphanet:93473|NCIT:C61261|ICD10:E76.0																		owl:Class
MONDO:0015484	biolink:NamedThing	cysticercosis	Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.	mondoexuq1wtf	intestinal taenia solium infection|tapeworm infection: pork|neurocysticercosis|tapeworm infection: intestinal taenia solum|pork tapeworm infection|tapeworm infection: [intestinal taenia solium] or [pork]|tenia solium infectious disease											EFO:0007231|UMLS:C0338437|ICD10:B69.1|ICD10:B69.8|SCTID:59051007|DOID:10079|COHD:440953|ICD10:B69.0|UMLS:C0010678|MedDRA:10011775|ICD10:B69|Orphanet:1560|ICD9:123.1|ICD10:B69.9|GARD:0008194|NCIT:C34520|MESH:D003551																		owl:Class
HGNC:939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021130	biolink:NamedThing	disorder of sphingolipid biosynthesis	An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.	mondoexuq1wtf	inborn error of sphingolipid biosynthetic process|rare inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder																													owl:Class
GO:0030148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001199	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005407	biolink:NamedThing	childhood eosinophilic esophagitis	An eosinophilic esophagitis that starts in childhood.	mondoexuq1wtf	eosinophilic esophagitis of childhood|pediatric eosinophilic esophagitis											EFO:0004594																		owl:Class
NCBITaxon:713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011304	biolink:NamedThing	cerebral cavernous malformation 2	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.	mondoexuq1wtf	cerebral cavernous malformation type 2|CCM2 familial cerebral cavernous malformation|cerebral cavernous malformations type 2|CCM2|cerebral cavernous malformations 2|familial cerebral cavernous malformation caused by mutation in CCM2											OMIM:603284|UMLS:C1864041|MESH:C566394|DOID:0060670|ICD10:Q28.3																		owl:Class
HGNC:21708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005821	biolink:NamedThing	late congenital syphilis		mondoexuq1wtf	juvenile neurosyphilis|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis|late congenital syphilis (2 years or more)|juvenile syphilis											DOID:10039|ICD9:090.5|ICD10:A50.40|ICD9:090.40|ICD9:090.7|ICD10:A50.4|ICD10:A50.59|ICD10:A50.5|EFO:0007339|ICD9:090.4|SCTID:82323002																		owl:Class
MONDO:0013888	biolink:NamedThing	tremor, hereditary essential, 4	Any essential tremor in which the cause of the disease is a mutation in the FUS gene.	mondoexuq1wtf	ETM4|essential tremor caused by mutation in FUS|tremor, hereditary essential, type 4|FUS essential tremor|tremor, hereditary essential, 4											UMLS:C3539195|DOID:0111431|OMIM:614782																		owl:Class
HGNC:4010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13164	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011622	biolink:NamedThing	nephrolithiasis, uric acid, susceptibility to		mondoexuq1wtf	UAN|susceptibility to uric acid nephrolithiasis|nephrolithiasis, uric acid, susceptibility to|urolithiasis, uric acid, susceptibility to											OMIM:605990																		owl:Class
UBERON:0003684	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012177	biolink:NamedThing	posterior column ataxia-retinitis pigmentosa syndrome	Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.	mondoexuq1wtf	Pcarp|AXPC1|PCARP|POSTERIOR column ataxia with retinitis pigmentosa|autosomal recessive posterior column ataxia and retinitis pigmentosa											ICD10:G11.1|UMLS:C4510304|UMLS:C1836916|GARD:0009898|OMIM:609033|MESH:C536343|SCTID:724065003|Orphanet:88628																		owl:Class
HGNC:24682	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9220	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014865	biolink:NamedThing	autosomal recessive severe congenital neutropenia due to CSF3R deficiency		mondoexuq1wtf	SCN7|neutropenia, Severe congenital, 7, autosomal recessive|neutropenia, severe congenital, 7, autosomal recessive											ICD10:D70|UMLS:C4310764|Orphanet:420702|OMIM:617014																		owl:Class
HGNC:2439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002352	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012130	biolink:NamedThing	myofibrillar myopathy 2	Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.	mondoexuq1wtf	alpha-B crystallinopathy|MFM2|myopathy, myofibrillar, 2|myofibrillar myopathy type 2|myopathy, desmin-related, associated with mutation in the Cryab Gene|late-onset distal crystallinopathy|autosomal dominant distal myopathy caused by mutation in CRYAB|CRYAB autosomal dominant distal myopathy|myopathy, myofibrillar, alpha-B crystallin-related|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, type 2|alpha-B crystallin-related late-onset distal myopathy											ICD10:G71.0|MESH:C563848|OMIM:608810|Orphanet:399058|UMLS:C1837317|DOID:0080093																		owl:Class
UBERON:0006074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024674	biolink:NamedThing	Pancoast syndrome	A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.	mondoexuq1wtf	Pancoast's syndrome|syndrome, Pancoast|tumor, Pancoast|Pancoasts syndrome|Pancoast tumor|Pancoast syndrome|syndrome, Pancoast's|superior pulmonary sulcus syndrome											NCIT:C55815|SCTID:278065000|MESH:D010178|UMLS:C0030271																		owl:Class
MONDO:0006883	biolink:NamedThing	malignant superior sulcus neoplasm	A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	mondoexuq1wtf	Pancoast tumor|malignant Superior sulcus neoplasm of the lung|malignant pulmonary sulcus neoplasm|malignant Superior sulcus tumor|pulmonary sulcus neoplasm, malignant|malignant Superior sulcus lung tumor|malignant Superior sulcus tumor of the lung|superior pulmonary sulcus syndrome|Pancoast's tumor|malignant Superior sulcus tumor of lung|malignant Superior sulcus neoplasm|superior sulcus tumor|malignant Superior sulcus neoplasm of lung|Pancoast's tumour|Pancoast's syndrome|malignant Superior sulcus lung neoplasm|superior pulmonary sulcus syndrome (disorder) [ambiguous]											UMLS:C0549471|SCTID:254638002|DOID:8007|EFO:1001080|NCIT:C7527																		owl:Class
HGNC:12463	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019395	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0060662	biolink:NamedThing	Diamond-Blackfan anemia-like		mondoexuq1wtf	DBAL|Diamond-Blackfan anemia-like											UMLS:CN873436|OMIM:617911																		owl:Class
HGNC:7788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013511	biolink:NamedThing	cyanosis, transient neonatal		mondoexuq1wtf	cyanosis, transient neonatal|TNCY											UMLS:C3151421|OMIM:613977																		owl:Class
HGNC:4832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2169701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24123	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011443	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012498	biolink:NamedThing	congenital stationary night blindness autosomal dominant 1	Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.	mondoexuq1wtf	congenital stationary night blindness autosomal dominant type 1|night blindness, congenital stationary, rhodopsin-related|CSNBAD1|congenital stationary night blindness caused by mutation in RHO|night blindness, congenital stationary, autosomal dominant 1|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness											MESH:C566474|DOID:0110862|UMLS:C1864869|OMIM:610445																		owl:Class
MONDO:0010349	biolink:NamedThing	ovarian dysgenesis 2	Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.	mondoexuq1wtf	ovarian failure, hypergonadotropic, due to ovarian dysgenesis|ovarian dysgenesis type 2|ovarian dysgenesis 2|BMP15 primary ovarian failure|ovarian dysgenesis, hypergonadotropic, X-linked|premature ovarian failure 4|ODG2|primary ovarian failure caused by mutation in BMP15											UMLS:C1845294|OMIM:300510|DOID:0080494|MESH:C564499																		owl:Class
HGNC:1068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008555	biolink:NamedThing	thrombocytopenia 2	An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.	mondoexuq1wtf	thrombocytopenia, autosomal dominant, 2|THC2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia 2											MESH:C536519|NCIT:C129035|OMIM:188000|GARD:0005191														https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2				owl:Class
HGNC:29186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004312	biolink:NamedThing	suprasellar meningioma	A meningioma that affects the suprasellar region.	mondoexuq1wtf	meningioma (disease) of sella turcica|sella turcica meningioma (disease)											UMLS:C1336535|DOID:7634|NCIT:C6776																		owl:Class
MONDO:0001620	biolink:NamedThing	louse-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	mondoexuq1wtf	Relapsing fever, louse-borne											UMLS:C0152061|NCIT:C128426|COHD:443908|ICD9:087.0|SCTID:14683004|ICD10:A68.0|DOID:13035																		owl:Class
MONDO:0013989	biolink:NamedThing	developmental and epileptic encephalopathy, 14	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.	mondoexuq1wtf	early infantile epileptic encephalopathy caused by mutation in KCNT1|DEE14|EIEE14|epileptic encephalopathy, early infantile, type 14|KCNT1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 14											DOID:0080439|OMIM:614959|UMLS:C3554195																		owl:Class
HGNC:18865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26837	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013274	biolink:NamedThing	retinitis pigmentosa 51	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.	mondoexuq1wtf	retinitis pigmentosa 51|retinitis pigmentosa type 51|TTC8 retinitis pigmentosa|retinitis pigmentosa caused by mutation in TTC8|RP51											DOID:0110398|OMIM:613464|ICD10:H35.5|UMLS:C3150715																		owl:Class
HGNC:20087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019865	biolink:NamedThing	mosaic trisomy 4	Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	mondoexuq1wtf	Mosaic trisomy chromosome 4|Mosaic trisomy type 4|trisomy 4 mosaicism											ICD10:Q92.1|SCTID:764628000|Orphanet:96059																		owl:Class
UBERON:0001542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017282	biolink:NamedThing	alveolar echinococcosis	Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.	mondoexuq1wtf	Echinococcus multilocularis disease or disorder|small fox tapeworm|Echinococcus multilocularis infectious disease|echinococcosis|echinococcus multilocularis infection|alveolococcosis|Echinococcus multilocularis caused disease or disorder|Echinococcus multilocularis infection|multilocular hydatid											UMLS:C0152069|MedDRA:10053042|ICD9:122.7|ICD10:B67.7|Orphanet:284|ICD10:B67.6|UMLS:C0948954|MESH:C536591|GARD:0000207|ICD10:B67.5|DOID:12148|SCTID:21009004																		owl:Class
MONDO:0003471	biolink:NamedThing	Pediculus humanus capitis infestation	A infectious disease involving Pediculus humanus capitis.	mondoexuq1wtf	Pediculus humanus capitis infection|Pediculus capitis|infections, Pediculus humanus capitis|pediculosis capitis|Pediculus capitis [head louse]|Pediculus capitis infestation|head louse infestation											ICD10:B85.0|ICD9:132.0|SCTID:81000006|UMLS:C0030757|DOID:5501																		owl:Class
NCBITaxon:121226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8923	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001251	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:86056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28596	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000741	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004319	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011269	biolink:NamedThing	psoriasis 2	Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.	mondoexuq1wtf	psoriasis caused by mutation in CARD14|psoriasis type 2|CARD14 psoriasis|PSORS2|psoriasis 2											UMLS:C1864497|DOID:0080475|OMIM:602723																		owl:Class
HGNC:16446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014284	biolink:NamedThing	short-rib thoracic dysplasia 10 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.	mondoexuq1wtf	short-rib thoracic dysplasia 10 with or without polydactyly|SRTD10											ICD10:Q87.5|UMLS:C3810175|DOID:0110091|OMIM:615630|ICD10:Q77.2																		owl:Class
HGNC:30391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019846	biolink:NamedThing	acquired central diabetes insipidus	Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.	mondoexuq1wtf	acquired neurogenic diabetes insipidus|acquired central diabetes insipidus|acquired CDI											ICD10:E23.2|Orphanet:95626																		owl:Class
MONDO:0023186	biolink:NamedThing	Fraser Jequier Chen syndrome		mondoexuq1wtf	chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs											GARD:0002373|MESH:C535481|UMLS:C2930912														https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome				owl:Class
HP:0002475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014026	biolink:NamedThing	congenital stationary night blindness 1F	Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.	mondoexuq1wtf	LRIT3 congenital stationary night blindness|congenital stationary night blindness caused by mutation in LRIT3|congenital stationary night blindness 1F autosomal recessive|CSNB1F|night blindness, congenital stationary, type 1F|congenital stationary night blindness type 1F											OMIM:615058|UMLS:C3554399|DOID:0110864																		owl:Class
HGNC:24783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000168	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002149	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17616	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009492	biolink:NamedThing	succinyl-CoA:3-ketoacid CoA transferase deficiency	Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.	mondoexuq1wtf	SCOTD|succinyl-CoA:3-oxoacid CoA transferase deficiency|Scot deficiency|3-oxoacid CoA transferase deficiency|OXCT1 deficiency|succinyl-CoA acetoacetate transferase deficiency|ketoacidosis due to Scot deficiency|SCOT deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency|succinyl-Coa:acetoacetate transferase deficiency											ICD10:E71.3|MESH:C537527|ICD9:270.8|GARD:0004774|Orphanet:832|OMIM:245050|SCTID:238004006																		owl:Class
HGNC:8527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016369	biolink:NamedThing	Rothmund-Thomson syndrome type 2	Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.	mondoexuq1wtf	RTS2|poikiloderma of Rothmund-Thomson type 2											Orphanet:221016|UMLS:CN201234|ICD10:Q82.8|OMIM:268400																		owl:Class
NCBITaxon:12967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:177	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3420	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20342	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010451	biolink:NamedThing	intellectual disability, X-linked 41	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.	mondoexuq1wtf	GDI1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 48|non-syndromic X-linked intellectual disability caused by mutation in GDI1|intellectual disability, X-linked type 41|mental retardation, X-linked 41|intellectual disability, X-linked 41|mental retardation, X-linked type 41|mental retardation, X-linked 48|MRX41											UMLS:C3887939|OMIM:300849																		owl:Class
HGNC:4226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0050905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009117	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004058	biolink:NamedThing	pancreatic cholera	A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.	mondoexuq1wtf	WDHA syndrome|watery diarrhea with hypokalemic alkalosis|pancreatic WDHA syndrome|excessive vasoactive intestinal peptide secretion|Verner Morrison syndrome|watery diarrhea syndrome|islet cell WDHA syndrome|WDHH|watery diarrhea, hypokalemia, and achlorhydria syndrome											DOID:6977|ICD9:259.3|SCTID:39998009|NCIT:C3488																		owl:Class
HP:0009830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007313	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018783	biolink:NamedThing	fibroblastic rheumatism		mondoexuq1wtf												SCTID:399964004|Orphanet:477650|UMLS:C1302753|ICD9:729.0																		owl:Class
HGNC:34016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030045	biolink:NamedThing	Liberfarb syndrome	A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.	mondoexuq1wtf	Liberfarb syndrome|LIBF|Spondyloepimetaphyseal Dysplasia, Liberfarb Type|LIBERFARB SYNDROME											OMIM:618889																		owl:Class
HGNC:8999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001241	biolink:NamedThing	transient neonatal neutropenia		mondoexuq1wtf												ICD10:P61.5|COHD:439149|DOID:11245|SCTID:55444004|ICD9:776.7|UMLS:C0158997																		owl:Class
MONDO:0013516	biolink:NamedThing	retinitis pigmentosa 60	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.	mondoexuq1wtf	retinitis pigmentosa caused by mutation in PRPF6|retinitis pigmentosa 60|retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa|RP60											DOID:0110411|OMIM:613983|UMLS:C3151434|ICD10:H35.5																		owl:Class
HGNC:15860	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0041051	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010441	biolink:NamedThing	CK syndrome		mondoexuq1wtf	mental retardation, X-linked, with thin body habitus and cortical malformation|CK syndrome|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|intellectual disability, X-linked, with thin body habitus and cortical malformation											Orphanet:251383|OMIM:300831|UMLS:C3151781																		owl:Class
MONDO:0014838	biolink:NamedThing	Coffin-Siris syndrome 5	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.	mondoexuq1wtf	COFFIN-SIRIS syndrome 5|Coffin-Siris syndrome type 5|SMARCE1 Coffin-Siris syndrome|Coffin-Siris syndrome caused by mutation in SMARCE1|CSS5|Coffin-Siris syndrome 5											OMIM:616938|UMLS:C4310788																		owl:Class
HGNC:11109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:01001285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26113	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2501	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014586	biolink:NamedThing	congenital myasthenic syndrome 4B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	mondoexuq1wtf	CMS4B|congenital myasthenic syndrome 4B fast-channel|myasthenic syndrome, congenital, 4B, FAST-channel|congenital myasthenic syndrome type 4B											DOID:0110677|OMIM:616324|UMLS:C4225369																		owl:Class
MONDO:0006705	biolink:NamedThing	Bacteroidaceae infectious disease	Infections with bacteria of the family BACTEROIDACEAE.	mondoexuq1wtf	Bacteroidaceae infection|Bacteroidaceae caused disease or disorder|Bacteroidaceae disease or disorder|infection, Bacteroidaceae|infections, Bacteroidaceae											EFO:1000872|UMLS:C0085392|MESH:D016866																		owl:Class
NCBITaxon:815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012430	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.	mondoexuq1wtf	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|CAMRQ2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|WDR81 dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2											OMIM:610185|MESH:C567656|UMLS:C2750234																		owl:Class
HGNC:26600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7448	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21316	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:897	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9302	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008764	biolink:NamedThing	Leber congenital amaurosis 1	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.	mondoexuq1wtf	LCA1|Leber congenital amaurosis type 1|Leber congenital amaurosis caused by mutation in GUCY2D|CRB|LCA|GUCY2D Leber congenital amaurosis|retinal blindness, congenital|amaurosis congenita of Leber I|amaurosis congenita of Leber, type 1|amaurosis congenita of Leber 1|Leber congenital amaurosis 1											GARD:0000635|ICD10:H35.5|OMIM:204000|DOID:0110078																		owl:Class
HGNC:4689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6696	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011748	biolink:NamedThing	Usher syndrome type 1G	Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.	mondoexuq1wtf	Usher syndrome, type 1G|USH1G Usher syndrome|Usher syndrome type Ig|USH1G|USHER syndrome, type Ig|Usher syndrome caused by mutation in USH1G											OMIM:606943|ICD10:H35.5|DOID:0110834|UMLS:C1847089|MESH:C564643																		owl:Class
HGNC:16356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011541	biolink:NamedThing	dilated cardiomyopathy 1J	An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	mondoexuq1wtf	sensorineural deafness with dilated cardiomyopathy|neurosensory hearing loss with dilated cardiomyopathy|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|sensorineural hearing loss with dilated cardiomyopathy|cardiomyopathy, dilated, 1J|dilated cardiomyopathy type 1J|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|CMD1J|familial dilated cardiomyopathy caused by mutation in EYA4|cardiomyopathy, dilated, type 1J|neurosensory deafness with dilated cardiomyopathy											UMLS:C1854368|Orphanet:217622|MESH:C565337|OMIM:605362|DOID:0110440																		owl:Class
HGNC:3522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017621	biolink:NamedThing	congenital sucrase-isomaltase deficiency with starch and lactose intolerance		mondoexuq1wtf	disaccharide intolerance with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance|congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|CSID with starch and lactose intolerance											Orphanet:306474|ICD10:E74.3																		owl:Class
HP:0004789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008503	biolink:NamedThing	Worster-Drought syndrome	Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.	mondoexuq1wtf	Worster Drought syndrome|suprabulbar paresis, congenital|Worster-Drought syndrome|suprabulbar paresis congenital|congenital suprabulbar paresis											GARD:0005598|SCTID:716335003|Orphanet:3465|ICD10:G80.8|OMIM:185480|UMLS:C0796204|MESH:C536747														https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome				owl:Class
MONDO:0020722	biolink:NamedThing	nephrolithiasis susceptibility caused by SLC26A1		mondoexuq1wtf	CAON|urolithiasis, calcium oxalate|nephrolithiasis, calcium oxalate											OMIM:167030|UMLS:C1833683																		owl:Class
HGNC:6235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26929	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009571	biolink:NamedThing	Meckel syndrome, type 1	Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.	mondoexuq1wtf	Meckel-Gruber syndrome, type 1|Mes|Meckel syndrome 1|Meckel syndrome, type 1|Meckel syndrome caused by mutation in MKS1|Dysencephalia splachnocystica|Meckel syndrome type1|Meckel Gruber syndrome|MKS1|Dysencephalia Splanchnocystica|Meckel syndrome|MKS|Meckel-Gruber syndrome|MKS1 Meckel syndrome|Gruber syndrome											UMLS:C3714506|OMIM:249000|MESH:C536133|ICD10:Q61.9|DOID:0070115																		owl:Class
HGNC:7121	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11266	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009159	biolink:NamedThing	Ehlers-Danlos syndrome, cardiac valvular type	Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	mondoexuq1wtf	EDS, cardiac valvular type|EDSCV|cvEDS|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|Ehlers-Danlos syndrome, arthrochalasis type|Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|Cardiac valvular form of Ehlers-Danlos syndrome|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, CARDIAC valvular type|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac-valvular EDS											GARD:0012613|SCTID:720858001|OMIM:225320|MESH:C536200|Orphanet:230851|ICD10:Q79.6																		owl:Class
HGNC:2198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002503	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:34399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012394	biolink:NamedThing	multiple synostoses syndrome 2	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.	mondoexuq1wtf	multiple synostoses syndrome type 2|SYNS2|multiple synostoses syndrome caused by mutation in GDF5|GDF5 multiple synostoses syndrome|multiple synostoses syndrome 2											OMIM:610017|UMLS:C1832708|MESH:C537380|GARD:0009916														https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2				owl:Class
HGNC:18130	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006562	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1787	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:123737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014442	biolink:NamedThing	Bardet-Biedl syndrome 14	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.	mondoexuq1wtf	BBS14|Bardet-Biedl syndrome type 14|Bardet-Biedl syndrome 14											ICD10:Q87.89|OMIM:615991|UMLS:C2673874|MESH:C567141|DOID:0110136																		owl:Class
UBERON:0001236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010341	biolink:NamedThing	autism, susceptibility to, X-linked 2	A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).	mondoexuq1wtf	AUTSX2|autism, susceptibility to, X-linked 2|susceptibility to X-linked autism 2|autism, susceptibility to, X-linked type 2|intellectual disability, X-linked|mental retardation, X-linked											OMIM:300495|MESH:D038901																		owl:Class
HGNC:14287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013287	biolink:NamedThing	agammaglobulinemia 2, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.	mondoexuq1wtf	AGM2|agammaglobulinemia 2, autosomal recessive|lambda 5 deficiency|IGLL1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|autosomal agammaglobulinemia caused by mutation in IGLL1											DOID:0060024|UMLS:C3150750|OMIM:613500																		owl:Class
HGNC:5870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015311	biolink:NamedThing	autism-facial port-wine stain syndrome	This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.	mondoexuq1wtf	autism with port-wine stain											Orphanet:137911|GARD:0010303|UMLS:CN199278														https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain				owl:Class
HP:0011974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013059	biolink:NamedThing	Aicardi-Goutieres syndrome 5	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.	mondoexuq1wtf	AGS5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|SAMHD1-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome 5|SAMHD1 Aicardi-Goutieres syndrome											MESH:C535608|NCIT:C168564|OMIM:612952|GARD:0010151																		owl:Class
HGNC:15925	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024548	biolink:NamedThing	peeling skin syndrome 1	Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.	mondoexuq1wtf	PSS1|skin peeling, familial continuous generalized|PSS|peeling skin syndrome caused by mutation in CDSN|deciduous skin|peeling skin syndrome 1|inflammatory peeling skin syndrome|generalized deciduous skin type B|peeling skin syndrome type B|PSS type B|generalized peeling skin syndrome type B|CDSN peeling skin syndrome|keratolysis exfoliativa congenita											UMLS:CN202306|Orphanet:263553|OMIM:270300|ICD10:Q80.8|UMLS:C3891449																		owl:Class
HGNC:1802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014396	biolink:NamedThing	dilated cardiomyopathy 1NN	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.	mondoexuq1wtf	dilated cardiomyopathy type 1NN|cardiomyopathy, dilated, type 1Nn|cardiomyopathy, dilated, 1NN|RAF1 familial isolated dilated cardiomyopathy|CMD1NN|familial isolated dilated cardiomyopathy caused by mutation in RAF1											UMLS:C4014656|ICD10:I42.0|DOID:0110432|OMIM:615916																		owl:Class
HGNC:9829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8860	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012570	biolink:NamedThing	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.	mondoexuq1wtf	PXE-like disorder with multiple coagulation Factor deficiency|pseudoxanthoma elasticum-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like syndrome											OMIM:610842|ICD10:D68.4|Orphanet:91135|UMLS:C4049241|MESH:C563654|SCTID:717941005|UMLS:C1835813																		owl:Class
MONDO:0002683	biolink:NamedThing	adult choroid plexus neoplasm	A choroid plexus neoplasm that occurs in an adult.	mondoexuq1wtf	adult choroid plexus tumor|neoplasm of the adult choroid plexus|choroid plexus neoplasm of adults|adult choroid plexus cancer|choroid plexus neoplasm|adult choroid plexus neoplasm|tumor of adult choroid plexus|neoplasm of adult choroid plexus|tumor of the adult choroid plexus											UMLS:C0796430|DOID:3542|NCIT:C8568																		owl:Class
HGNC:397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:6121	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007452	biolink:NamedThing	maturity-onset diabetes of the young type 1	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.	mondoexuq1wtf	maturity-onset diabetes of the young, type 1|diabetes mellitus MODY type 1|MODY1|type 1 maturity-onset diabetes of the young|MODY type 1|diabetes mellitus type 2|maturity onset diabetes of the Young, type 1|MODY HNF4A related|mild juvenile diabetes mellitus|MODY, type 1|HNF4A-associated monogenic diabetes|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes											UMLS:C1852093|OMIM:125850|GARD:0003418|DOID:0111099|SCTID:609562003|MESH:C565101|NCIT:C129744														https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1				owl:Class
HGNC:2731	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12872	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013201	biolink:NamedThing	Waardenburg syndrome type 4B	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.	mondoexuq1wtf	Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|Waardenburg syndrome caused by mutation in EDN3|Waardenburg syndrome, type 4B|Waardenburg syndrome with Hirschsprung disease type 4B|EDN3 Waardenburg syndrome|WS4B											UMLS:C2750457|DOID:0110954|OMIM:613265|MESH:C567680																		owl:Class
HGNC:3178	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001972	biolink:NamedThing	Brucella melitensis brucellosis	A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.	mondoexuq1wtf												ICD9:023.0|SCTID:427999003|ICD10:A23.0|DOID:14456|UMLS:C0302362																		owl:Class
HP:0003418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016285	biolink:NamedThing	papillary carcinoma of the cervix uteri	A papillary carcinoma that involves the uterine cervix.	mondoexuq1wtf	cervical papillary carcinoma|uterine cervix papillary carcinoma											ICD10:C53.8|ICD10:C53.0|UMLS:CN201075|Orphanet:213817|ICD10:C53.1																		owl:Class
HP:0001931	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12310	biolink:NamedThing			mondoexuq1wtf																														owl:Class
SO:0000056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015206	biolink:NamedThing	short stature-heart defect-craniofacial anomalies syndrome		mondoexuq1wtf	short stature heart defect and craniofacial anomalies|Rommen Mueller Sybert syndrome|Rommen-Mueller-Sybert syndrome											ICD10:Q87.1|GARD:0004739|Orphanet:1088|UMLS:C2931050|MESH:C535871																		owl:Class
HGNC:4241	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003668	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018006	biolink:NamedThing	adult-onset distal myopathy due to VCP mutation	Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	mondoexuq1wtf												ICD10:G71.0|Orphanet:329478|UMLS:CN204218																		owl:Class
MONDO:0011464	biolink:NamedThing	spinocerebellar ataxia type 11	Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	mondoexuq1wtf	spinocerebellar ataxia 11|SCA11|spinocerebellar ataxia type 11											ICD10:G11.8|OMIM:604432|DOID:0050961|UMLS:C1858351|MESH:C565772|UMLS:C4304886|GARD:0010475|SCTID:719207000|Orphanet:98767																		owl:Class
HGNC:19141	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005847	biolink:NamedThing	middle lobe syndrome	Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)	mondoexuq1wtf												UMLS:C0026069|EFO:0007367|DOID:2810|MESH:D008878|SCTID:28295001																		owl:Class
GO:0046952	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003972	biolink:NamedThing	gastric body carcinoma	A carcinoma that arises from epithelial cells of the body of stomach.	mondoexuq1wtf	carcinoma of body of stomach|gastric body (stomach) cancer|cancer of the body of the stomach|cancer of the gastric body|cancer of body of stomach|gastric body cancer|cancer of gastric body|carcinoma of gastric body|body of stomach carcinoma|gastric body carcinoma|carcinoma of the gastric body|carcinoma of the body of the stomach											NCIT:C8399|DOID:6705|UMLS:C0345804|SCTID:254557000																		owl:Class
UBERON:0001161	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013140	biolink:NamedThing	candidiasis, familial, 4	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.	mondoexuq1wtf	familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|CLEC7A familial chronic mucocutaneous candidiasis|candidiasis, familial, type 4|candidiasis, familial, 4|CANDF4|candidiasis, familial chronic mucocutaneous											UMLS:C0341024|OMIM:613108|SCTID:235073000																		owl:Class
HGNC:14558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25662	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:9895	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5478	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013984	biolink:NamedThing	autosomal recessive nonsyndromic deafness 84B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.	mondoexuq1wtf	OTOGL autosomal recessive nonsyndromic deafness|DFNB84B|autosomal recessive nonsyndromic deafness type 84B|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|autosomal recessive deafness 84B|deafness, autosomal recessive 84B|deafness, autosomal recessive type 84B											OMIM:614944|UMLS:C3554159|DOID:0110530|ICD10:H90.3																		owl:Class
HGNC:26901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:01001282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:1000011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11610	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011408	biolink:NamedThing	hereditary spastic paraplegia 10	Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.	mondoexuq1wtf	spastic paraplegia 10|autosomal dominant spastic paraplegia|KIF5A hereditary spastic paraplegia|spastic paraplegia 10, autosomal dominant|autosomal dominant spastic paraplegia type 10|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10 with or without peripheral neuropathy|autosomal dominant spastic paraplegia 10|hereditary spastic paraplegia type 10|SPG10											DOID:0110763|Orphanet:100991|MESH:C537482|UMLS:C4518536|OMIM:604187|UMLS:C1858712|SCTID:732948003|GARD:0009590|ICD10:G11.4																		owl:Class
OBO:CHR_9606-chr15	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0047453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014712	biolink:NamedThing	Senior-Loken syndrome 9	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.	mondoexuq1wtf	Senior-Loken syndrome 9|Senior-Loken syndrome 9; SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|Senior-Loken syndrome type 9|TRAF3IP1 Senior-Loken syndrome|SLSN9											UMLS:C4225263|OMIM:616629																		owl:Class
HGNC:17861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:88456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013666	biolink:NamedThing	Stickler syndrome, type 5	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.	mondoexuq1wtf	STICKLER syndrome, type V|autosomal recessive Stickler syndrome caused by mutation in COL9A2|COL9A2 autosomal recessive Stickler syndrome|STL5											UMLS:C3280342|OMIM:614284																		owl:Class
GO:0030849	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7562	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:163	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013948	biolink:NamedThing	peroxisome biogenesis disorder 10A (Zellweger)		mondoexuq1wtf	PBD10A|peroxisome biogenesis disorder, complementation group G|peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder 10A (Zellweger)											OMIM:614882|UMLS:C3553999|DOID:0080484														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:5181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000622	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2511	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100034	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006506	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2876	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009879	biolink:NamedThing	short stature due to growth hormone qualitative anomaly	Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.	mondoexuq1wtf	Kowarski syndrome|KOWARSKI syndrome|Biodefective Growth hormone|pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin											MESH:C537505|Orphanet:629|GARD:0000408|OMIM:262650|UMLS:C1849779|ICD10:E23.0																		owl:Class
HGNC:4261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5855	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4329	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014077	biolink:NamedThing	cobblestone lissencephaly without muscular or ocular involvement	Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.	mondoexuq1wtf	lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 5|lissencephaly 5|LIS5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement											ICD10:Q04.3|Orphanet:352682|OMIM:615191|UMLS:C3554657																		owl:Class
HGNC:6486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr20	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008290	biolink:NamedThing	porokeratosis 1, Mibelli type		mondoexuq1wtf	porokeratosis 1, multiple types|porokeratosis 1, MIBELLI type|POROK1|porokeratosis of Mibelli											OMIM:175800																		owl:Class
HGNC:9141	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17697	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11822	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011305	biolink:NamedThing	cerebral cavernous malformation 3	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.	mondoexuq1wtf	cerebral cavernous malformation type 3|CCM3|familial cerebral cavernous malformation caused by mutation in PDCD10|PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformations 3|cerebral cavernous malformations type 3										MONDO:0000821	OMIM:603285|DOID:0060671|ICD10:Q28.3|MESH:C566393|UMLS:C1864040																		owl:Class
HGNC:8761	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012545	biolink:NamedThing	neutral lipid storage myopathy		mondoexuq1wtf	neutral lipid storage disease without ichthyosis|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease with myopathy|neutral lipid storage disease with myopathy without ichthyosis|NLSDM											ICD10:E75.5|SCTID:699315005|OMIM:610717|Orphanet:98908|GARD:0010288																		owl:Class
HGNC:30802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21478	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3668	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:37124	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001264	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002346	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001633	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013655	biolink:NamedThing	intellectual disability, autosomal dominant 8	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.	mondoexuq1wtf	mental retardation, autosomal dominant 8, formerly|autosomal dominant non-syndromic intellectual disability 8|mental retardation, autosomal dominant type 8|GRIN1 autosomal dominant non-syndromic intellectual disability|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|intellectual disability, autosomal dominant 8|autosomal dominant intellectual disability 8|mental retardation, autosomal dominant 8|intellectual disability, autosomal dominant 8, formerly|MRD8|autosomal dominant mental retardation 8|NDHMSD|intellectual disability, autosomal dominant type 8|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1											UMLS:C3280282|DOID:0070038|OMIM:614254																		owl:Class
HGNC:4584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005998	biolink:NamedThing	trombiculiasis	Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.	mondoexuq1wtf	Trombiculidae infectious disease|Trombiculidae caused disease or disorder|Trombiculidae disease or disorder											EFO:0007526|DOID:8399|UMLS:C0041170|MESH:D014323																		owl:Class
NCBITaxon:92251	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012297	biolink:NamedThing	SPOAN syndrome	A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	mondoexuq1wtf	spastic paraplegia, optic atropy, and neuropathy syndrome|SPOAN|spastic paraplegia, optic atropy, and neuropathy|spastic paraplegia-optic atrophy-neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy											ICD10:G11.4|OMIM:609541|UMLS:C1836010|Orphanet:320406|MESH:C563702|DOID:0060491																		owl:Class
HGNC:20716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032632	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 28		mondoexuq1wtf	MC1DN28|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28											OMIM:618249																		owl:Class
HGNC:17194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017628	biolink:NamedThing	myospherulosis		mondoexuq1wtf	subcutaneous spherulocystic disease|spherulocytosis											UMLS:C0027123|Orphanet:306553|SCTID:81139004|ICD9:136.8																		owl:Class
CL:0000160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3809	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017354	biolink:NamedThing	infantile glycine encephalopathy	Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.	mondoexuq1wtf	infantile onset glycine encephalopathy|infantile non-ketotic hyperglycinemia|glycine encephalopathy of infancy|infantile NKH											Orphanet:289860|ICD10:E72.5																		owl:Class
UBERON:0001793	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:27458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011103	biolink:NamedThing	autosomal dominant nonsyndromic deafness 3A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness caused by mutation in GJB2|autosomal dominant deafness 3A|DFNA3|autosomal dominant nonsyndromic deafness type 3A|NSRD1|deafness, autosomal dominant nonsyndromic sensorineural 3|neurosensory nonsyndromic dominant deafness 1|deafness, autosomal dominant type 3A|GJB2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 3A|DFNA3A					Editor note: consider adding grouping for 3A/3B						GARD:0009933|OMIM:601544|MESH:C567277|ICD10:H90.3|UMLS:C2675750|DOID:0110564																		owl:Class
MONDO:0013288	biolink:NamedThing	agammaglobulinemia 3, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.	mondoexuq1wtf	autosomal agammaglobulinemia caused by mutation in CD79A|CD79A autosomal agammaglobulinemia|AGM3|agammaglobulinemia 3, autosomal recessive|agammaglobulinemia, autosomal recessive, due to Cd79A defect											OMIM:613501|UMLS:C3150751																		owl:Class
HGNC:1698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:127916	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013663	biolink:NamedThing	platelet-activating factor acetylhydrolase deficiency		mondoexuq1wtf	platelet-activating factor acetylhydrolase deficiency|PAFAD|platelet-activating factor acetylhydrolase deficiency (disease)		platelet-activating factor acetylhydrolase deficiency (disease)									UMLS:C3280315|HP:0040175|OMIM:614278|MESH:C566640																		owl:Class
HGNC:9040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003355	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014337	biolink:NamedThing	complex cortical dysplasia with other brain malformations 5	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.	mondoexuq1wtf	complex cortical dysplasia with other brain malformations type 5|cortical dysplasia, Complex, with Other brain malformations type 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|TUBB2A complex cortical dysplasia with other brain malformations|CDCBM5|cortical dysplasia, complex, with other brain malformations 5											OMIM:615763|DOID:0090135|UMLS:C3810407																		owl:Class
HGNC:12412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:291	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chrY	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001099	biolink:NamedThing	lactocele	Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.	mondoexuq1wtf	lacteal cyst|Galactocoele|galactocele											SCTID:42385006|MESH:C535998|ICD9:611.5|COHD:436167|GARD:0008401|NCIT:C3515|ICD10:N64.89|DOID:10686																		owl:Class
GO:0030731	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012514	biolink:NamedThing	hypomyelinating leukodystrophy 5	Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.	mondoexuq1wtf	HLD5|hypomyelinating leukodystrophy type 5|hypomyelination and congenital cataract: HCC|leukodystrophy, hypomyelinating, type 5|FAM126A leukodystrophy|hypomyelination-congenital cataract syndrome|leukodystrophy caused by mutation in FAM126A|hypomyelination - congenital cataract|hypomyelination and congenital cataract|leukodystrophy, hypomyelinating, 5											DOID:0060793|UMLS:C1864663|GARD:0011980|OMIM:610532|Orphanet:85163|MESH:C567166|SCTID:702379005|ICD10:G37.8|ICD9:341.8																		owl:Class
HGNC:24587	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000822	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8864	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3026	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000686	biolink:NamedThing	alexia without agraphia	Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)	mondoexuq1wtf	Agnosias, visual verbal|agnosia, visual verbal|Agraphias, alexia without|verbal agnosia, visual|Blindnesses, Pure Word|alexias, Pure|alexia syndrome without agraphia|without agraphia, alexia|Pure alexia|blindness, Pure Word|Pure alexias|Pure Word blindness|Pure Word Blindnesses|Pure alexia without agraphia|alexia without Agraphias|alexia without agraphia|without Agraphias, alexia|visual verbal agnosia|Word blindness, Pure|visual verbal Agnosias|Word Blindnesses, Pure|agraphia, alexia without|verbal Agnosias, visual											MESH:D020237|DOID:0060156																		owl:Class
HP:0010522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010227	biolink:NamedThing	retinitis pigmentosa 3	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.	mondoexuq1wtf	cone-rod Degeneration, X-linked|RPGR retinitis pigmentosa|retinitis pigmentosa type 3|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|RP3|retinitis pigmentosa 15|retinitis pigmentosa 3|retinitis pigmentosa caused by mutation in RPGR											ICD10:H35.5|UMLS:C1845667|MESH:C564520|GARD:0010381|DOID:0110414|OMIM:300029																		owl:Class
HGNC:10295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6842	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009420	biolink:NamedThing	primary hypergonadotropic hypogonadism-partial alopecia syndrome	This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.	mondoexuq1wtf	Al Awadi-Farag-Teebi syndrome|hypergonadotropic hypogonadism and partial alopecia											Orphanet:2232|MESH:C567109|ICD10:E29.1|OMIM:241090|SCTID:719275009|ICD10:E28.3																		owl:Class
HGNC:10031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024357	biolink:NamedThing	drug induced central sleep apnea		mondoexuq1wtf	drug induced central sleep apnea											SCTID:104831000119109|UMLS:C3662033																		owl:Class
HGNC:5964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016546	biolink:NamedThing	primary orthostatic tremor	Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.	mondoexuq1wtf	orthostatic tremor, primary|OT|shaky leg syndrome|pot											MESH:C536418|SCTID:715902009|GARD:0008563|Orphanet:238606|ICD10:G25.2														https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor				owl:Class
HGNC:21699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011395	biolink:NamedThing	cone-rod dystrophy 3	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.	mondoexuq1wtf	CORD3|cone-rod dystrophy caused by mutation in ABCA4|cone-rod dystrophy 3|cone-rod dystrophy type 3|ABCA4 cone-rod dystrophy											DOID:0111013|GARD:0010653|UMLS:C1858806|OMIM:604116|MESH:C565827														https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3				owl:Class
NCBITaxon:12083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100963	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006964	biolink:NamedThing	secondary hyperparathyroidism	Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.	mondoexuq1wtf	secondary hyperparathyroidism (disease)|secondary hyperparathyroidism NOS|secondary hyperparathyroidism		secondary hyperparathyroidism (disease)									COHD:138388|EFO:1001173|DOID:12466|UMLS:C0020503|HP:0000867|SCTID:91478007|MESH:D006962|MedDRA:10020708|NCIT:C113335																		owl:Class
HGNC:17748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7590	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013040	biolink:NamedThing	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly		mondoexuq1wtf	hemolytic uremic syndrome, atypical, susceptibility to, 2|hemolytic uremic syndrome, atypical, susceptibility to, type 2|atypical HUS with MCP/CD46 anomaly|AHUS, susceptibility to, 2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|aHUS with MCP/CD46 anomaly|D-HUS with MCP/CD46 anomaly|AHUS2|aHUS2|susceptibility to atypical hemolytic uremic syndrome 2											OMIM:612922|ICD10:D58.8|Orphanet:93576																		owl:Class
HGNC:6953	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011687	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2F	Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	mondoexuq1wtf	Charcot Marie Tooth disease type 2F|HSPB1 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|CMT2F|CMT 2F|Charcot-Marie-Tooth neuropathy, type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuropathy type 2F|Charcot-Marie-Tooth disease, neuronal, type 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot-Marie-Tooth disease, axonal, type 2F											OMIM:606595|GARD:0009194|UMLS:C1847823|Orphanet:99940|DOID:0110163|UMLS:C4304675|SCTID:719510006|MESH:C535413|ICD10:G60.0														https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f				owl:Class
HGNC:5246	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014713	biolink:NamedThing	porokeratosis 9, multiple types	Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.	mondoexuq1wtf	POROK9|FDPS porokeratosis (disease)|porokeratosis 9, multiple types|porokeratosis (disease) caused by mutation in FDPS|porokeratosis 9, multiple types; POROK9											UMLS:C4225262|OMIM:616631																		owl:Class
HGNC:3631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002835	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5973	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014996	biolink:NamedThing	intellectual disability, autosomal recessive 58	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.	mondoexuq1wtf	ELP2 autosomal recessive non-syndromic intellectual disability|ELP2-related disorder|MRT58|autosomal recessive intellectual disability 58|intellectual disability, autosomal recessive type 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|mental retardation, autosomal recessive type 58|intellectual disability, autosomal recessive 58|mental retardation, autosomal recessive 58											OMIM:617270|UMLS:C4310641|GARD:0013361																		owl:Class
HGNC:18248	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014018	biolink:NamedThing	hereditary spastic paraplegia 54	A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	mondoexuq1wtf	autosomal recessive spastic paraplegia 54|hereditary spastic paraplegia type 54|autosomal recessive spastic paraplegia type 54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|SPG54|DDHD2 autosomal recessive complex spastic paraplegia|spastic paraplegia 54, autosomal recessive											ICD10:G11.4|Orphanet:320380|SCTID:723824005|UMLS:C3539495|UMLS:C4510083|DOID:0110806|OMIM:615033																		owl:Class
HGNC:29106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28178	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013910	biolink:NamedThing	hypogonadotropic hypogonadism 8 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 8 with or without anosmia|HH8|KISS1R hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in KISS1R											UMLS:C3553841|ICD10:E23.0|DOID:0090074|OMIM:614837																		owl:Class
MONDO:0011987	biolink:NamedThing	cone-rod dystrophy 13	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.	mondoexuq1wtf	cone-rod dystrophy caused by mutation in RPGRIP1|CORD13|cone-rod dystrophy type 13|cone-rod dystrophy 13|RPGRIP1 cone-rod dystrophy											OMIM:608194|MESH:C567698|UMLS:C2750720|DOID:0111016																		owl:Class
MONDO:0009240	biolink:NamedThing	formiminoglutamic aciduria	Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.	mondoexuq1wtf	FTCD deficiency|formiminotransferase deficiency syndrome|Arakawa syndrome 1|formiminotransferase deficiency|formiminoglutamic aciduria|formiminoglutamic acidemia|glutamate formiminotransferase deficiency|Formiminoglutamicaciduria (FIGLU-Uria)|Figlu-Uria|formiminotransferase cyclodeaminase deficiency											SCTID:59761008|ICD9:270.8|GARD:0009279|UMLS:C0268609|DOID:0111679|MESH:C537425|OMIM:229100|ICD10:E70.8|Orphanet:51208																		owl:Class
HGNC:3974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3531	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008815	biolink:NamedThing	argininosuccinic aciduria	Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.	mondoexuq1wtf	argininosuccinatelyase deficiency|argininosuccinase deficiency|argininosuccinate acidemia|argininosuccinicaciduria|arginosuccinase deficiency|ASA deficiency|urea cycle disorder, arginino succinase type|argininosuccinic aciduria|argininosuccinic acidemia|ASL deficiency|deficiency of argininosuccinate lyase|inborn error of urea synthesis, arginino succinic type|arginino succinase deficiency|argininosuccinate lyase deficiency|argininosuccinic acid lyase deficiency											SCTID:41013004|OMIM:207900|Orphanet:23|NCIT:C84569|DOID:14755|ICD10:E72.2|UMLS:C0268547|GARD:0005843|MESH:D056807|MedDRA:10058299														https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria				owl:Class
HGNC:746	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0700000	biolink:NamedThing	ALG9-associated autosomal dominant polycystic kidney disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.	mondoexuq1wtf	ALG9 autosomal dominant polycystic kidney disease|ALG9-associated ADPKD|ALG9 related autosomal dominant polycystic kidney disease|autosomal dominant polycystic kidney disease caused by mutation in ALG9							http://orcid.org/0000-0002-4142-7153																						owl:Class
HGNC:319	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013286	biolink:NamedThing	immunodeficiency, common variable, 6	Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.	mondoexuq1wtf	CD81 common variable immunodeficiency|CVID6|antibody deficiency due to CD81 defect|common variable immunodeficiency caused by mutation in CD81|immunodeficiency, common variable, 6|immunodeficiency, common variable, type 6											OMIM:613496|UMLS:C3150741																		owl:Class
HGNC:1701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008818	biolink:NamedThing	arterial tortuosity syndrome	Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.	mondoexuq1wtf	ATS|arterial tortuosity syndrome|arterial tortuosity											GARD:0000774|OMIM:208050|Orphanet:3342|ICD10:Q87.82|MESH:C565942|SCTID:458432002|ICD10:I77.1|DOID:0050645|UMLS:C1859726																		owl:Class
HGNC:13444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010339	biolink:NamedThing	X-linked epilepsy-learning disabilities-behavior disorders syndrome	X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	mondoexuq1wtf	epilepsy, X-linked, with variable learning disabilities and behavior disorders											ICD10:Q87.8|UMLS:C1845343|Orphanet:85294|MESH:C564505|OMIM:300491																		owl:Class
HGNC:11494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012737	biolink:NamedThing	long QT syndrome 10	Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.	mondoexuq1wtf	SCN4B long QT syndrome|LQT10|long QT syndrome 10|atrial fibrillation, familial, 17|long QT syndrome type 10|long QT syndrome caused by mutation in SCN4B											ICD10:I45.8|MESH:C567514|UMLS:C2678484|OMIM:611819|GARD:0010436|DOID:0110651														https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10				owl:Class
HGNC:10592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015256	biolink:NamedThing	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome		mondoexuq1wtf	Rodini-Richieri Costa syndrome											Orphanet:1258																		owl:Class
HP:0004308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:66225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14674	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009284	biolink:NamedThing	glutathione synthetase deficiency without 5-oxoprolinuria		mondoexuq1wtf	GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to											UMLS:C1856399|Orphanet:289849|OMIM:231900|MESH:C565545|ICD10:D55.1																		owl:Class
HGNC:18286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014684	biolink:NamedThing	combined oxidative phosphorylation defect type 26	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.	mondoexuq1wtf	combined oxidative phosphorylation deficiency 26|COXPD26|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|combined oxidative phosphorylation deficiency type 26|TRMT5 combined oxidative phosphorylation deficiency											OMIM:616539|EFO:0009036|UMLS:C4225290|Orphanet:477684|DOID:0111490																		owl:Class
HGNC:23141	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2375	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010317	biolink:NamedThing	intellectual disability, X-linked, with or without seizures, arx-related		mondoexuq1wtf	intellectual disability, X-linked 52|intellectual disability, X-linked 38|mental retardation, X-linked 87|mental retardation, X-linked 33|intellectual disability, X-linked 54|mental retardation, X-linked 54|intellectual disability, X-linked 76|mental retardation, X-linked 32|intellectual disability, X-linked 29|mental retardation, X-linked 29|mental retardation, X-linked 76|mental retardation, X-linked 52|intellectual disability, X-linked 33|mental retardation, X-linked, with or without seizures, arx-RELATED|intellectual disability, X-linked, with or without seizures, ARX-related|MRXARX|intellectual disability, X-linked 32|MRX52|mental retardation, X-linked, with or without seizures, arx-related|intellectual disability, X-linked 43|intellectual disability, X-linked, with or without seizures, arx-RELATED|mental retardation, X-linked 43|ARX-related intellectual disability|mental retardation, X-linked 38|intellectual disability, X-linked 87											MESH:C563150|UMLS:C1845298|OMIM:300419|UMLS:C0796244|MESH:C564502|OMIM:300504|GARD:0005614																		owl:Class
HGNC:18060	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001898	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008419	biolink:NamedThing	scoliosis, isolated, susceptibility to, 1		mondoexuq1wtf	scoliosis, isolated, susceptibility to, 1|adolescent isolated scoliosis|adolescent idiopathic scoliosis|IS1											OMIM:181800																		owl:Class
HP:0000520	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011242	biolink:NamedThing	Bartter disease type 4a	Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.	mondoexuq1wtf	Bartter syndrome caused by mutation in BSND|Bartter syndrome, type 4A|BSND Bartter syndrome|BSND|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|sensorineural deafness with mild renal dysfunction|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|Bartter syndrome type 4a|BARTS4A											SCTID:717791000|DOID:0110145|UMLS:C1865270|ICD10:E26.8|OMIM:602522																		owl:Class
HGNC:16512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002900	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4053	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013853	biolink:NamedThing	pontocerebellar hypoplasia type 1B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.	mondoexuq1wtf	EXOSC3 non-syndromic pontocerebellar hypoplasia|PCH1B|pontocerebellar hypoplasia, type 1B|non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3											OMIM:614678|DOID:0060266|UMLS:C3553449																		owl:Class
HGNC:17944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001711	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007646	biolink:NamedThing	Gamstorp-Wohlfart syndrome	Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.	mondoexuq1wtf	autosomal recessive neuromyotonia and axonal neuropathy|Gamstorp-Wohlfart syndrome|ARCMT2-NM|ARAN-NM|neuromyotonia and axonal neuropathy, autosomal recessive|myokymia, myotonia, and muscle wasting|NMAN|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|myokymia, myotonia and muscle wasting|autosomal recessive axonal neuropathy with neuromyotonia											Orphanet:324442|DOID:0050526|UMLS:CN074193|ICD10:G60.0|OMIM:137200|GARD:0012353|SCTID:711406009																		owl:Class
HGNC:4912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005743	biolink:NamedThing	encephalitozoonosis	Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.	mondoexuq1wtf	infection by Encephalitozoon											UMLS:C0085412|DOID:4270|EFO:0007250|SCTID:12825006|MESH:D016890|ICD9:136.8																		owl:Class
NCBITaxon:58839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23537	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009568	biolink:NamedThing	mast syndrome	Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	mondoexuq1wtf	Mast syndrome|SPG21|spastic paraplegia 21, autosomal recessive|mast syndrome|autosomal recessive spastic paraplegia 21|hereditary spastic paraplegia 21|autosomal recessive spastic paraplegia type 21											Orphanet:101001|MESH:C565409|OMIM:248900|SCTID:764734003|UMLS:C1855346|DOID:0060245|ICD10:G11.4																		owl:Class
HGNC:20373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008373	biolink:NamedThing	retinal arterial tortuosity		mondoexuq1wtf	tortuosity of retinal arteries|retinal arteries, tortuosity OF|retinal arterial tortuosity (disease)|retinal arteriolar tortuosity|retinal arterial tortuosity|retinal hemorrhage with vascular tortuosity|RATOR		retinal arterial tortuosity (disease)									DOID:0111547|ICD10:Q14.1|OMIM:180000|Orphanet:75326|HP:0001136																		owl:Class
UBERON:0012320	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:90339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011374	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011451	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.	mondoexuq1wtf	fatal infantile encephalocardiomyopathy caused by mutation in SCO2|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1|SCO2 fatal infantile encephalocardiomyopathy|CEMCOX1|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy											DOID:0080357|OMIM:604377																		owl:Class
HGNC:10604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011853	biolink:NamedThing	Camptosynpolydactyly, complex		mondoexuq1wtf	camptosynpolydactyly, complex|CCSPD|camptopolydactyly, disorganization type											UMLS:C1843758|MESH:C564383|OMIM:607539																		owl:Class
MONDO:0015304	biolink:NamedThing	arachnoiditis	Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.	mondoexuq1wtf	arachnoid mater inflammation|adhesive arachnoiditis|inflammation of arachnoid mater|chronic arachnoiditis											ICD10:G03.9|NCIT:C37913|UMLS:C0003708|MedDRA:10003074|SCTID:13980006|ICD10:G03|GARD:0005839|MESH:D001100|Orphanet:137817|DOID:12156|UMLS:C0270617																		owl:Class
UBERON:0002362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013670	biolink:NamedThing	myopia, high, with cataract and vitreoretinal degeneration		mondoexuq1wtf	myopia, high, with cataract and vitreoretinal degeneration|MCVD											UMLS:C3280346|OMIM:614292																		owl:Class
HP:0001373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:27973	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014286	biolink:NamedThing	neuropathy, hereditary sensory, type 1F	Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.	mondoexuq1wtf	HSN 1F|hereditary sensory neuropathy type 1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|hereditary sensory neuropathy type IF|HSN1F|neuropathy, hereditary sensory, type IF											DOID:0070154|OMIM:615632|UMLS:C3810194																		owl:Class
HGNC:24526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011664	biolink:NamedThing	immunodeficiency due to CD25 deficiency		mondoexuq1wtf	Interleukin 2 receptor, alpha, deficiency of|CD25 deficiency|Interleukin-2 receptor alpha chain deficiency|immunodeficiency 41 with lymphoproliferation and autoimmunity|IL2RA deficiency|IMD41											OMIM:606367|MESH:C565232|UMLS:C1853392|ICD10:D81.2|Orphanet:169100																		owl:Class
HGNC:6008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0045202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:56210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015341	biolink:NamedThing	congenital panfollicular nevus	Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.	mondoexuq1wtf	congenital panfollicular nevus|congenital panfollicular nevus (disease)		congenital panfollicular nevus (disease)									HP:0025471|Orphanet:139414																		owl:Class
HGNC:1515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004638	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015523	biolink:NamedThing	epithelioid hemangioendothelioma	A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.	mondoexuq1wtf	malignant epithelioid hemangioendothelioma|epithelioid hemangioendothelioma|epithelioid angiosarcoma|epithelioid angioendothelioma											ICDO:9130/3|ICDO:9133/3|MESH:D018323|Orphanet:157791|ICDO:9133/1|NCIT:C3800|ICD10:D18.0|UMLS:C0206732|DOID:0080190|ONCOTREE:EHAE|SCTID:403981003																		owl:Class
MONDO:0016144	biolink:NamedThing	qualitative or quantitative defects of delta-sarcoglycan		mondoexuq1wtf	delta-sarcoglycanopathy											UMLS:CN072428|Orphanet:207070|GARD:0001799																		owl:Class
PR:000014783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14270	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009770	biolink:NamedThing	3MC syndrome 1	Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.	mondoexuq1wtf	oculopalatoskeletal syndrome|3MC syndrome 1|MASP1 3MC syndrome|Michels syndrome|3MC syndrome caused by mutation in MASP1|Michels syndrome, formerly|3MC syndrome type 1|3MC1|3Mc syndrome type 1|craniosynostosis with 51D anomalies											DOID:0060575|Orphanet:2506|EFO:1001978|OMIM:257920|UMLS:C0796059																		owl:Class
HGNC:6901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013081	biolink:NamedThing	lymphoproliferative syndrome 1	A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..	mondoexuq1wtf	lymphoproliferative syndrome caused by mutation in ITK|ITK lymphoproliferative syndrome|LPFS1|ITK deficiency|lymphoproliferative syndrome type 1|lymphoproliferative syndrome 1											DOID:0060707|Orphanet:538963|MESH:C567815|OMIM:613011|ICD10:D47.9|NCIT:C126344|UMLS:C3552634																		owl:Class
HGNC:6171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012691	biolink:NamedThing	LEOPARD syndrome 2	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.	mondoexuq1wtf	LPRD2|LEOPARD syndrome 2|Leopard syndrome type 2|leopard syndrome 2											DOID:0080549|OMIM:611554|UMLS:C1969056|MESH:C537117																		owl:Class
HGNC:11604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10780	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0013630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30546	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0045453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008662	biolink:NamedThing	autosomal dominant vitreoretinochoroidopathy	Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.	mondoexuq1wtf	vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|vitreoretinochoroidopathy|VRCP autosomal dominant|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|ADVIRC|vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|VRCP|vitreoretinochoroidopathy dominant											GARD:0005507|OMIM:193220|ICD10:H35.5|DOID:0111569|Orphanet:3086|SCTID:711162004|MESH:C536352|UMLS:C3888099																		owl:Class
MONDO:0005875	biolink:NamedThing	Newcastle disease	A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.	mondoexuq1wtf	Newcastle's disease|pseudo-fowlpest											EFO:0007395|NCIT:C34849|UMLS:C0027983|MESH:D009521|DOID:2929																		owl:Class
NCBITaxon:2560319	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001247	biolink:NamedThing	social phobia	An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.	mondoexuq1wtf	social anxiety disorder											ICD10:F40.1|ICD9:300.23|COHD:440690|DOID:11257|NCIT:C34927|EFO:1001917|ICD10:F40.10|SCTID:25501002																		owl:Class
GO:0035176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13733	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008788	biolink:NamedThing	IRIDA syndrome	IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.	mondoexuq1wtf	pseudo-iron-deficiency Anemia|anemia, hypochromic microcytic, with defect in iron metabolism|iron-handling disorder, hereditary|iron-refractory iron deficiency anemia|IRIDA											OMIM:206200|GARD:0010957|ICD10:D50.8|MESH:C562385|SCTID:722005000|Orphanet:209981																		owl:Class
HGNC:16517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1382	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014591	biolink:NamedThing	autosomal dominant Robinow syndrome 2	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.	mondoexuq1wtf	autosomal dominant Robinow syndrome type 2|Robinow syndrome, autosomal dominant 2|autosomal dominant Robinow syndrome caused by mutation in DVL1|DRS2|Robinow syndrome, autosomal dominant type 2|DVL1 autosomal dominant Robinow syndrome											UMLS:C4225363|OMIM:616331|DOID:0060765|ICD10:Q87.1																		owl:Class
HGNC:3084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013467	biolink:NamedThing	immunodeficiency due to ficolin3 deficiency		mondoexuq1wtf	Fcn3 deficiency|ficolin 3 deficiency|immunodeficiency due to ficolin 3 deficiency|lectin complement activation pathway, defect in, 3											SCTID:766705006|ICD10:D84.1|UMLS:C3151226|OMIM:613860|Orphanet:331190																		owl:Class
HGNC:3625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019994	biolink:NamedThing	maternal uniparental disomy of chromosome 13	Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	mondoexuq1wtf	maternal uniparental disomy of chromosome type 13|UPD(13)mat											UMLS:CN036719|ICD10:Q99.8|Orphanet:97678																		owl:Class
OBO:CHR_9606-chr13	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004621	biolink:NamedThing	upper lip cancer	A malignant neoplasm involving the upper lip.	mondoexuq1wtf	upper lip cancer|malignant upper lip neoplasm|malignant neoplasm of upper lip|cancer of upper lip											ICD10:C00.0|DOID:8630|ICD9:140.0|ICD10:C00.3|ICD9:140.3																		owl:Class
UBERON:0001834	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000001886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010089	biolink:NamedThing	isolated sulfite oxidase deficiency		mondoexuq1wtf	ISOD|sulfite oxidase deficiency|Sulfocysteinuria|sulfite oxidase deficiency, isolated|sulfocysteinuria											DOID:0111270|SCTID:367368009|MESH:C538141|GARD:0005062|OMIM:272300|ICD10:E72.1|Orphanet:99731																		owl:Class
HGNC:11460	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21641	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011765	biolink:NamedThing	multiple epiphyseal dysplasia type 5	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	mondoexuq1wtf	epiphyseal dysplasia multiple 5|multiple epiphyseal dysplasia, MATN3 related|BHMED|Microepiphyseal dysplasia, bilateral hereditary|EDM5|epiphyseal dysplasia, multiple, 5|Polyepiphyseal dysplasia type 5|MED5|multiple epiphyseal dysplasia 5|multiple epiphyseal dysplasia, MATN3-related|bilateral hereditary micro-epiphyseal dysplasia|MATN3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, type 5|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3											ICD10:Q77.3|MESH:C535505|OMIM:607078|UMLS:C4275060|Orphanet:93311|DOID:0070299|SCTID:715674008|UMLS:C1846843|GARD:0009794																		owl:Class
HGNC:18062	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013723	biolink:NamedThing	bacteremia, susceptibility to, 1	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.	mondoexuq1wtf	bacteremia, susceptibility caused by mutation in TIRAP|BACTS1|bacteremia, susceptibility to, type 1|bacteremia, resistance to|TIRAP bacteremia, susceptibility|bacteremia, susceptibility to, 1											OMIM:614382																		owl:Class
HGNC:17192	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001700	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002422	biolink:NamedThing	adamantinoma	A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.	mondoexuq1wtf	adamantinoma|adamantinoma of long bones|adamantinoma, malignant|Extragnathic adamantinoma|adamantinoma of long bone|adamantinoma of long bones (morphologic abnormality)|long bone adamantinoma											DOID:2775|NCIT:C7644|SCTID:307609003|OMIM:102660|UMLS:C0334556|MESH:C562741|ICD9:170.9|ONCOTREE:ADMA|UMLS:C1367554|DOID:2776|ICDO:9261/3|MESH:D050398|ICD10:C40.2|Orphanet:55881																		owl:Class
UBERON:0002495	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016650	biolink:NamedThing	paternal uniparental disomy of chromosome 1	Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	mondoexuq1wtf	UPD(1)pat|paternal uniparental disomy of chromosome type 1											ICD10:Q99.8|SCTID:766719006|Orphanet:251004																		owl:Class
MONDO:0008930	biolink:NamedThing	celiac disease, susceptibility to, 1		mondoexuq1wtf	susceptibility to celiac disease 1|celiac disease, susceptibility to, 1|CELIAC1|gluten-sensitive enteropathy, susceptibility to, 1|celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, type 1											OMIM:212750																		owl:Class
NCBITaxon:573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12440	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7578	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012918	biolink:NamedThing	primary ciliary dyskinesia 10	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus|CILD10|primary ciliary dyskinesia caused by mutation in DNAAF2|ciliary dyskinesia, primary, type 10|ciliary dyskinesia, primary, 10|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia											OMIM:612518|UMLS:C2675867|ICD10:Q34.8|DOID:0110612|MESH:C567287																		owl:Class
HGNC:20188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009847	biolink:NamedThing	pericardial effusion, chronic	Chronic form of pericardial effusion (disease).	mondoexuq1wtf	pericardial effusion (disease), chronic|chronic pericardial effusion (disease)|pericardial effusion, chronic|cholesterol pericarditis											OMIM:260900|MESH:C564895|UMLS:C1850039																		owl:Class
HGNC:10910	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016472	biolink:NamedThing	dracunculiasis	Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).	mondoexuq1wtf	dracontiasis|Guinea worm infection|Dracunculus medinensis caused disease or disorder|Medina worm disease|Dracunculus medinensis infectious disease|Dracunculus medinensis disease or disorder|Guinea worm disease|GWD|medinensis|parasitic infection caused by Dracunculus medinensis|infection by Dracunculus medinensis|Dracunculosis											NCIT:C84677|GARD:0006286|SCTID:396334002|MedDRA:10013618|Orphanet:231|ICD9:125.7|MESH:D004320|EFO:0007241|UMLS:C0013100|ICD10:B72|DOID:14418														https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis				owl:Class
MONDO:0001137	biolink:NamedThing	Murray valley encephalitis	An disease caused by infection with Murray Valley encephalitis virus.	mondoexuq1wtf	Australian encephalitis|Murray Valley encephalitis virus disease or disorder|Australian X disease|Murray Valley encephalitis virus caused disease or disorder|Murray Valley encephalitis virus infectious disease											DOID:10842|SCTID:66454007|UMLS:C0153066|ICD9:062.4|ICD10:A83.4																		owl:Class
HGNC:19048	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:610	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014226	biolink:NamedThing	idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	mondoexuq1wtf	IMD13|immunodeficiency 13|ICL|immunodeficiency type 13|idiopathic Cd4 lymphopenia|idiopathic CD4 positive T-lymphocytopenia											ICD10:D72.8|GARD:0012375|SCTID:763713000|Orphanet:228000|UMLS:C3809768|OMIM:615518																		owl:Class
HGNC:12565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0041751	biolink:NamedThing	multibacillary leprosy	A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.	mondoexuq1wtf	lepromatous leprosy|multibacillary leprosy											SCTID:416257001																		owl:Class
GO:0042092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5466	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000474	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014546	biolink:NamedThing	myopathy due to calsequestrin and SERCA1 protein overload	Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.	mondoexuq1wtf	myopathy, vacuolar, with CASQ1 aggregates|VMCQA											UMLS:C4510368|SCTID:724095006|UMLS:C4015624|Orphanet:88635|ICD10:G71.8|OMIM:616231																		owl:Class
HGNC:1512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13221	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29427	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7569	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013660	biolink:NamedThing	arthrogryposis, Perthes disease, and upward gaze palsy		mondoexuq1wtf	arthrogryposis, Perthes disease, and upward gaze palsy|APUG											OMIM:614262|UMLS:C3280309																		owl:Class
UBERON:0001160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003083	biolink:NamedThing	venous hemangioma	A rare slow growing benign tumor of aberrant and ectatic venous connections.	mondoexuq1wtf	Venous malformation|Venous angioma											DOID:467|ICDO:9122/0|SCTID:403968005|NCIT:C4296|UMLS:C0334532|ICD9:228.09																		owl:Class
GO:0048845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013186	biolink:NamedThing	Noonan syndrome 6	Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.	mondoexuq1wtf	NRAS Noonan syndrome|NS6|NRAS gene related Noonan syndrome|Noonan syndrome type 6|Noonan syndrome 6|Noonan syndrome caused by mutation in NRAS											MESH:C548084|GARD:0010701|DOID:0060584|OMIM:613224|UMLS:C2750732														https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6				owl:Class
HGNC:4816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018766	biolink:NamedThing	chronic enteropathy associated with SLCO2A1 gene		mondoexuq1wtf	CEAS											Orphanet:468641																		owl:Class
MONDO:0012220	biolink:NamedThing	Griscelli syndrome type 3	A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.	mondoexuq1wtf	Griscelli-PruniC)ras syndrome type 3|Griscelli-Pruni��ras syndrome type 3|Griscelli disease type 3|GS3|Griscelli-Pruniéras syndrome type 3|hypomelanosis with no immunologic or neurologic manifestations|Griscelli syndrome, type 3											MESH:C537303|OMIM:609227|GARD:0009715|DOID:0060834|UMLS:C1836573|Orphanet:79478|ICD10:E70.3														https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3				owl:Class
HGNC:29643	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012475	biolink:NamedThing	cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.	mondoexuq1wtf	retinal cone dystrophy 3B|cone dystrophy with supernormal Rod responses|cone dystrophy with supernormal rod ERG|RCD3B|cone dystrophy with supernormal rod electroretinogram|cone dystrophy with supernormal scotopic electroretinogram|retinal cone dystrophy type 3B|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related											OMIM:610356|UMLS:C1835897|SCTID:719455002|Orphanet:209932|UMLS:C4304714|MESH:C563678|ICD10:H35.5|GARD:0010649																		owl:Class
HGNC:19698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29670	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007190	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 2		mondoexuq1wtf	leukemia, chronic lymphocytic, susceptibility to, 2|leukemia, chronic lymphocytic, susceptibility to, type 2|B-cell malignancy, low-grade|disrupted in B-cell malignancy|leukemia, chronic lymphocytic, B-cell|Clls2											OMIM:109543																		owl:Class
CHEBI:8058	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8142	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018148	biolink:NamedThing	vasoproliferative tumor of retina	Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.	mondoexuq1wtf	vasoproliferative tumor of ocular fundus|retinal vasoproliferative tumor|VPTR|vasoproliferative tumor of the retina|vasoproliferative tumor of the ocular fundus											Orphanet:353356|UMLS:CN204546|ICD10:D31.2																		owl:Class
NCBITaxon:85708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011948	biolink:NamedThing	pontocerebellar hypoplasia type 3	Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.	mondoexuq1wtf	PCH with optic atrophy|PCH without dyskinesia|PCH3|PCLO non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|pontocerebellar hypoplasia, type 3|Pch with optic atrophy|cerebellar atrophy with progressive microcephaly|clam											Orphanet:97249|MESH:C548072|OMIM:608027|UMLS:C1842687|ICD10:Q04.3|GARD:0010708|DOID:0060272|SCTID:718609003														https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3				owl:Class
HGNC:13406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010885	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C15492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013050	biolink:NamedThing	lethal polymalformative syndrome, Boissel type		mondoexuq1wtf	growth retardation, developmental delay, and facial dysmorphism|GDFD											ICD10:Q87.8|Orphanet:210144|OMIM:612938|MESH:C567856																		owl:Class
HGNC:24678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011229	biolink:NamedThing	ethylmalonic encephalopathy	Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	mondoexuq1wtf	eme|encephalopathy, ethylmalonic|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|EPEMA syndrome|encephalopathy, petechiae, and ethylmalonic aciduria|EE											UMLS:C1865349|MESH:C535737|GARD:0002198|ICD10:G31.8|SCTID:723307008|OMIM:602473|DOID:0060640|Orphanet:51188														https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy				owl:Class
HGNC:23287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MF_0000013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0050892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013405	biolink:NamedThing	retinitis pigmentosa 49	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.	mondoexuq1wtf	CNGA1 retinitis pigmentosa|retinitis pigmentosa 49|retinitis pigmentosa caused by mutation in CNGA1|RP49|retinitis pigmentosa type 49											DOID:0110377|UMLS:C3151059|ICD10:H35.5|OMIM:613756																		owl:Class
HGNC:2148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014153	biolink:NamedThing	cone-rod dystrophy 18	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.	mondoexuq1wtf	cone-rod dystrophy type 18|cone-rod dystrophy 18|cone-rod dystrophy caused by mutation in RAB28|RAB28 cone-rod dystrophy|CORD18											OMIM:615374|UMLS:C3809299|DOID:0111024																		owl:Class
HGNC:9768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009694	biolink:NamedThing	myeloperoxidase deficiency		mondoexuq1wtf	MPO deficiency|myeloperoxidase deficiency|MPOD											Orphanet:2587|UMLS:C0398595|SCTID:234433009|ICD10:E80.3|MESH:C562864|GARD:0003868|ICD9:288.8|OMIM:254600														https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency				owl:Class
HGNC:7218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7866	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:118655	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4214	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4837	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0019207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:17245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011444	biolink:NamedThing	Duane retraction syndrome 2	Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.	mondoexuq1wtf	Duane retraction syndrome type 2|Duane syndrome type 2|CHN1 Duane retraction syndrome|Duane retraction syndrome 2|DURS2|Duane retraction syndrome caused by mutation in CHN1											OMIM:604356|GARD:0009966|SCTID:128083007														https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2				owl:Class
HGNC:1943	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004749	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8980	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr4	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001627	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9910	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013553	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 2	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.	mondoexuq1wtf	ICF2|immunodeficiency-centromeric instability-facial anomalies syndrome 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|ICF syndrome 2|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2											UMLS:C3279748|ICD10:D84.8|DOID:0090009|OMIM:614069																		owl:Class
HGNC:21143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014360	biolink:NamedThing	developmental and epileptic encephalopathy, 21	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.	mondoexuq1wtf	DEE21|epileptic encephalopathy, early infantile, type 21|EIEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1|NECAP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 21											DOID:0080443|UMLS:C4014430|OMIM:615833																		owl:Class
HGNC:24539	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015694	biolink:NamedThing	malignant melanoma of the mucosa	A melanoma (disease) that involves the mucosa.	mondoexuq1wtf	mucosa melanoma (disease)|melanoma (disease) of mucosa|mucosa melanoma											GARD:0012649|Orphanet:168999|UMLS:CN200193																		owl:Class
MONDO:0056805	biolink:NamedThing	benign peripheral nerve granular cell tumor	A benign granular cell tumor that involves the nerve.	mondoexuq1wtf	benign granular cell tumor of nerve|benign granular cell neoplasm of peripheral nerve|benign peripheral nerve granular cell tumor|nerve benign granular cell tumor|benign granular cell tumor of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|benign granular cell tumor of the peripheral nerve|benign peripheral nerve granular cell neoplasm											NCIT:C5502|UMLS:C1332530																		owl:Class
UBERON:0001021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0034651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015021	biolink:NamedThing	hypotonia, ataxia, and delayed development syndrome		mondoexuq1wtf	hypotonia, ataxia, and delayed development syndrome|hypotonia, ataxia, and delayed development syndrome; HADDS|HADDS											OMIM:617330|UMLS:C4310618																		owl:Class
HGNC:19087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015269	biolink:NamedThing	symmetrical thalamic calcifications	Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.	mondoexuq1wtf	bilateral symmetrical thalamic gliosis											UMLS:C4304914|GARD:0005070|SCTID:719164000|ICD10:G93.8|Orphanet:1314														https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications				owl:Class
HP:0001702	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044688	biolink:NamedThing	isolated optic neuritis		mondoexuq1wtf	ion											Orphanet:499096																		owl:Class
MONDO:0013383	biolink:NamedThing	Hirschsprung disease, susceptibility to, 3		mondoexuq1wtf	Hirschsprung disease, susceptibility to, type 3|Hirschsprung disease type 3|GDNF Hirschsprung disease|Hirschsprung disease caused by mutation in GDNF|HSCR3|susceptibility to Hirschsprung disease 3|Hirschsprung disease, susceptibility to, 3|Hirschsprung disease modifier											GARD:0002699|UMLS:C2931739|OMIM:613711|MESH:C538121														https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3				owl:Class
HGNC:4232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28929	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018019	biolink:NamedThing	lead poisoning	5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.	mondoexuq1wtf	Lead intoxication|saturnism|plumbism											ICD9:984.8|ICD9:984.9|ICD10:T56.0|Orphanet:330015|SCTID:38342005|MESH:D007855																		owl:Class
HGNC:15968	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020701	biolink:NamedThing	brachydactyly type A1A		mondoexuq1wtf	BRACHYDACTYLY, type A1|BDA1|Farabee-type Brachydactyly											OMIM:112500																		owl:Class
HGNC:5956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009081	biolink:NamedThing	deafness, congenital, with total albinism		mondoexuq1wtf	deafness, congenital, with total albinism											OMIM:220900|MESH:C565646|UMLS:C1857343																		owl:Class
MONDO:0019567	biolink:NamedThing	Ehlers-Danlos syndrome, classic type, 1	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.	mondoexuq1wtf	Ehlers-Danlos syndrome, type 1|EDSCL1|type I Ehlers-Danlos syndrome|EDS I|Ehlers-Danlos syndrome, type I|Ehlers-Danlos syndrome, classic type, 1											ICD10:Q79.6|MESH:C536194|Orphanet:90309|NCIT:C125696|UMLS:C0268335|OMIM:130000|SCTID:83470009|DOID:14720																		owl:Class
HGNC:2209	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011386	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 1	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.	mondoexuq1wtf	nephropathy, diabetic, susceptibility to|VEGFA microvascular complications of diabetes, susceptibility|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to|microvascular complications of diabetes, protection against|microvascular complications of diabetes, susceptibility to, type 1|microvascular complications of diabetes, susceptibility to, 1|nonproliferative retinopathy, diabetic, susceptibility to|end-stage renal disease, diabetic, susceptibility to|MVCD1|neuropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA											OMIM:603933																		owl:Class
HGNC:12680	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013932	biolink:NamedThing	peroxisome biogenesis disorder 5A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder 5A (Zellweger)|peroxisome biogenesis disorder, complementation group 5|peroxisome biogenesis disorder, complementation group F|PBD5A|peroxisome biogenesis disorder, complementation group 10											DOID:0080480|NCIT:C155756|OMIM:614866|UMLS:C3553940														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0013876	biolink:NamedThing	basal cell carcinoma, susceptibility to, 7	Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.	mondoexuq1wtf	skin basal cell carcinoma caused by mutation in TP53|basal cell carcinoma, susceptibility to, 7|basal cell carcinoma, susceptibility to, type 7|TP53 skin basal cell carcinoma|susceptibility to basal cell carcinoma 7|BCC7											OMIM:614740																		owl:Class
CHEBI:27363	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011648	biolink:NamedThing	radiation-induced meningioma		mondoexuq1wtf	radiation induced meningioma|meningioma, radiation-induced|Mnri											UMLS:C1853554|GARD:0008491|OMIM:606190|MESH:C536266														https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma				owl:Class
ENVO:01001026	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008736	biolink:NamedThing	peroxisome biogenesis disorder 2B		mondoexuq1wtf	PBD2B|peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B											OMIM:202370|DOID:0080622|UMLS:C3550234														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:11114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0031594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7060	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009658	biolink:NamedThing	Sanfilippo syndrome type D	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.	mondoexuq1wtf	MPSIIID|MPS3D|mucopolysaccharidosis type 3D|Mucopoly-saccharidosis type 3D|mucopolysaccharidosis, type 3D|Sanfilippo syndrome D|MPS III D|N-acetylglucosamine-6-sulfate sulfatase deficiency|MPS 3D|MPS IIID|glucosamine N-acetyl-6-sulfatase deficiency|N-acetylglucosamine-6-sulfatase deficiency|mucopolysaccharidosis type IIID|GNS deficiency|mucopolysaccharidosis, type IIID|Sanfilippo D											DOID:0111402|SCTID:15892005|UMLS:C0086650|NCIT:C84900|Orphanet:79272|GARD:0007074|OMIM:252940|ICD10:E76.2																		owl:Class
HGNC:4422	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16636	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6120	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11916	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0046879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014617	biolink:NamedThing	intellectual disability, autosomal dominant 38	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.	mondoexuq1wtf	intellectual disability, autosomal dominant 38|autosomal dominant intellectual disability 38|MRD38|psychomotor retardation, epilepsy, and language disability syndrome|autosomal dominant non-syndromic intellectual disability 38|autosomal dominant mental retardation 38|PRELDS|intellectual disability, autosomal dominant type 38|mental retardation, autosomal dominant 38|mental retardation, autosomal dominant type 38|autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|EEF1A2 autosomal dominant non-syndromic intellectual disability											OMIM:616393|DOID:0070068|UMLS:C4225343																		owl:Class
HGNC:3192	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013573	biolink:NamedThing	cranioectodermal dysplasia 3	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.	mondoexuq1wtf	IFT43 cranioectodermal dysplasia|cranioectodermal dysplasia caused by mutation in IFT43|cranioectodermal dysplasia 3|Cranioectodermal dysplasia type 3|CRANIOECTODERMAL dysplasia 3|CED3											UMLS:C3279807|OMIM:614099																		owl:Class
HGNC:29669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006807	biolink:NamedThing	intestinal perforation	A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.	mondoexuq1wtf	perforation of intestine|bowel perforation											MedDRA:10022694|DOID:2074|ICD10:P78.0|ICD9:569.83|COHD:193242|NCIT:C39611|ICD9:777.6|MESH:D007416|EFO:1000987|SCTID:56905009|UMLS:C0021845																		owl:Class
MONDO:0007335	biolink:NamedThing	orofacial cleft 1	Cleft lip with or without cleft palate mapped to chromosome 6p24.	mondoexuq1wtf	cleft lip with or without cleft palate, nonsyndromic, 1|OFC1|orofacial cleft 1|orofacial cleft, nonsyndromic|cleft Lip/palate, nonsyndromic											UMLS:C1861537|OMIM:119530|NCIT:C124838|MESH:C566121|DOID:0080395																		owl:Class
HGNC:25461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11741	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007744	biolink:NamedThing	cholesterol-ester transfer protein deficiency		mondoexuq1wtf	HALP1|Hdlcq10|CEPT deficiency|familial hyperalphalipoproteinemia|cholesterol ester transfer Protein deficiency|hyperalphalipoproteinemia 1|CETP deficiency|hyperalphalipoproteinemia type 1|high density lipoprotein cholesterol level quantitative trait locus 10											UMLS:CN205999|Orphanet:79506|DOID:0111368|UMLS:C3875011|ICD10:E78.4|SCTID:15771000119109|OMIM:143470																		owl:Class
HGNC:1869	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003704	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003444	biolink:NamedThing	intrahepatic bile duct adenoma	A rare adenoma that arises from the intrahepatic biliary tree.	mondoexuq1wtf	adenoma of the intrahepatic bile duct|intrahepatic bile duct adenoma|adenoma, HEPATOCHOLANGIOCELLULAR, benign|adenoma of intrahepatic bile duct											DOID:5437|NCIT:C7126|UMLS:C1331535																		owl:Class
HGNC:11909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C68748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010024	biolink:NamedThing	Beemer-Langer syndrome	Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.	mondoexuq1wtf	SRPS type 4|SRTD12|Beemer-Langer syndrome|Srps 4|short rib-polydactyly syndrome, Beemer-Langer type|Beemer Langer syndrome|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type 4|type IV short rib polydactyly syndrome|short rib-polydactyly syndrome Beemer type|short rib syndrome, Beemer type|short rib polydactyly syndrome Beemer-Langer type|short-rib thoracic dysplasia 12|short rib-polydactyly syndrome type IV											UMLS:C0432198|DOID:9249|Orphanet:93268|ICD9:756.9|OMIM:269860|MESH:C537599|GARD:0004832|ICD10:Q77.2|SCTID:254052001																		owl:Class
MONDO:0010384	biolink:NamedThing	hypospadias 1, X-linked		mondoexuq1wtf	hypospadias 1, X-linked|HYSP1											UMLS:C2678098|OMIM:300633|MESH:C567482																		owl:Class
HGNC:924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012941	biolink:NamedThing	inflammatory bowel disease 25	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.	mondoexuq1wtf	inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease caused by mutation in IL10RB|early onset autosomal recessive inflammatory bowel disease 25|IL10RB inflammatory bowel disease|inflammatory bowel disease type 25|IBD25|inflammatory bowel disease 25, autosomal recessive											UMLS:C2675508|MESH:C567251|OMIM:612567|DOID:0110909																		owl:Class
HGNC:5965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10727	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008610	biolink:NamedThing	blue color blindness	Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.	mondoexuq1wtf	blue colour blindness|tritan defect|tritanopia|blue colorblindness|colorblindness, tritanopic|tritan colour blindness|congenital tritanopia|colorblindness, tritan											Orphanet:88629|ICD10:H53.55|DOID:11661|SCTID:51886007|ICD9:368.53|ICD10:H53.5|UMLS:C0155017|OMIM:190900																		owl:Class
HGNC:1012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011690	biolink:NamedThing	Camurati-Engelmann disease, type 2	Camurati-Engelmann Disease not associated with TGFB1	mondoexuq1wtf	CAEND2|progressive diaphyseal dysplasia with striations of the bones|Camurati Engelmann disease, type 2|Camurati-Engelmann disease, type 2											MESH:C537978|GARD:0008748|OMIM:606631|UMLS:C2931683																		owl:Class
NCBITaxon:28344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:39824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020298	biolink:NamedThing	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		mondoexuq1wtf	UPD(15)mat|Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15											UMLS:CN207093|ICD10:Q87.1|Orphanet:98754																		owl:Class
HP:0011031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011596	biolink:NamedThing	atopic dermatitis 2	Any atopic eczema in which the cause of the disease is a mutation in the FLG gene.	mondoexuq1wtf	FLG atopic eczema|ATOD2|atopic eczema caused by mutation in FLG|atopic dermatitis type 2|dermatitis, Atopic, type 2|dermatitis, ATOPIC, 2											OMIM:605803|MESH:C565293|DOID:0110098|UMLS:C1853965																		owl:Class
HGNC:3748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000178	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26200	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18662	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10825	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014762	biolink:NamedThing	heterotaxy, visceral, 7, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.	mondoexuq1wtf	visceral heterotaxy caused by mutation in MMP21|HTX7|heterotaxy, visceral, 7, autosomal; HTX7|MMP21 visceral heterotaxy|heterotaxy, visceral, 7, autosomal											OMIM:616749|UMLS:C4225217																		owl:Class
HGNC:14357	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014710	biolink:NamedThing	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.	mondoexuq1wtf	autosomal recessive primary immunodeficiency due to RORC mutation|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|IMD42|immunodeficiency 42|RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency type 42|autosomal recessive MSMD due to complete RORgamma receptor defiency											OMIM:616622|UMLS:C4225266|Orphanet:477857																		owl:Class
HGNC:10260	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:33699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007269	biolink:NamedThing	dilated cardiomyopathy 1A	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	mondoexuq1wtf	cardiomyopathy, dilated, 1A|familial dilated cardiomyopathy with conduction defect due to LMNA mutation|cardiomyopathy, dilated, type 1A|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, idiopathic dilated|cardiomyopathy, congestive|cardiomyopathy, familial idiopathic|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, dilated, with conduction defect 1|dilated cardiomyopathy with conduction defect 1|dilated cardiomyopathy type 1A|familial isolated dilated cardiomyopathy caused by mutation in LMNA|CDCD1											ICD10:I42.0|GARD:0001104|DOID:0110425|SCTID:766883006|OMIM:115200|Orphanet:300751|UMLS:C1449563														https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1				owl:Class
HGNC:11094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001638	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018984	biolink:NamedThing	Oroya fever	An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.	mondoexuq1wtf	Carrion's disease|Bartonella bacilliformis caused disease or disorder|Carrión disease|Bartonella bacilliformis infectious disease|bartonellosis due to Bartonella bacilliformis infection|Carrion disease|Bartonella bacilliformis disease or disorder|Oroya fever											SCTID:262461007|DOID:0050398|ICD10:A44.0|SCTID:240453002|Orphanet:64692|UMLS:CN205422|UMLS:C0029307|NCIT:C128441																		owl:Class
HGNC:19027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014948	biolink:NamedThing	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		mondoexuq1wtf	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|SRMMD											UMLS:C4310686|OMIM:617164																		owl:Class
HGNC:649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0044381	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013380	biolink:NamedThing	LEOPARD syndrome 3	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.	mondoexuq1wtf	Noonan syndrome with multiple lentigines caused by mutation in BRAF|Leopard syndrome type 3|LPRD3|LEOPARD syndrome 3|BRAF Noonan syndrome with multiple lentigines|leopard syndrome 3											UMLS:C3150971|OMIM:613707|DOID:0080550																		owl:Class
HGNC:1097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4335	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:121228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0025278	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012506	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 11	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.	mondoexuq1wtf	arrhythmogenic right ventricular dysplasia, familial, 11|arrhythmogenic right ventricular cardiomyopathy 11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|ARVC11|familial arrhythmogenic right ventricular dysplasia 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2|arrhythmogenic right ventricular dysplasia type 11|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, type 11|ARVD11											OMIM:610476|ICD10:I42.8|MESH:C566471|DOID:0110082																		owl:Class
HGNC:3036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012323	biolink:NamedThing	lethal acantholytic epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.	mondoexuq1wtf	lethal acantholytic epidermolysis bullosa|EBLA|LAEB|epidermolysis bullosa, lethal acantholytic											ICD10:Q81.0|MESH:C535493|Orphanet:158687|GARD:0009910|UMLS:C1864826|OMIM:609638														https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic				owl:Class
HGNC:3052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007751	biolink:NamedThing	hypercholesterolemia, autosomal dominant, type B		mondoexuq1wtf	apolipoprotein B-100, familial ligand-defective|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial defective|hypercholesterolemia, familial, due to ligand-defective apolipoprotein B											OMIM:144010|SCTID:238081000																		owl:Class
HGNC:603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001051	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6240	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9045	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:39433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001032	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001751	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:157541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1246	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014660	biolink:NamedThing	microcephaly 15, primary, autosomal recessive		mondoexuq1wtf	MCPH15|microcephaly 15, primary, autosomal recessive											UMLS:C4225310|DOID:0070277|OMIM:616486																		owl:Class
HGNC:25897	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015023	biolink:NamedThing	MYPN-related myopathy	Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.	mondoexuq1wtf	MYPN nemaline myopathy|nemaline myopathy 11, autosomal recessive|nemaline myopathy 11|nemaline myopathy type 11|nemaline myopathy caused by mutation in MYPN|NEM11											UMLS:C4479695|UMLS:C4479186|OMIM:617336|DOID:0110933|UMLS:CN240509																		owl:Class
HGNC:23246	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010476	biolink:NamedThing	neurodegeneration with brain iron accumulation 5	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	mondoexuq1wtf	static encephalopathy of childhood with neurodegeneration in adulthood|SENDA|neurodegeneration with brain iron accumulation 5|static encephalopathy of childhood with neurdegeneration in adulthood|static encephalopathy Of childhood with neurodegeneration In adulthood|neurodegeneration with brain iron accumulation type 5|neurodegeneration with brain iron accululation 5|NBIA5|neurodegeneration with brain iron accumulation caused by mutation in WDR45|BPAN|beta-propeller protein-associated neurodegeneration|WDR45 neurodegeneration with brain iron accumulation											UMLS:CN168656|OMIM:300894|ICD10:G23.0|UMLS:C3550973|DOID:0110739|GARD:0012570|Orphanet:329284|SCTID:732959007																		owl:Class
HGNC:28912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043574	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008553	biolink:NamedThing	platelet-type bleeding disorder 17	An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.	mondoexuq1wtf	hereditary thrombasthenia-thrombocytopenia|BDPLT17|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|bleeding disorder, platelet-type, 17|thrombasthenia-thrombocytopenia, hereditary|bleeding disorder, platelet-type 17|GFI1B inherited bleeding disorder, platelet-type											DOID:0111049|OMIM:187900|NCIT:C142084|MESH:C566060|ICD10:D69.1																		owl:Class
HGNC:4238	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010817	biolink:NamedThing	autosomal dominant nonsyndromic deafness 2A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.	mondoexuq1wtf	deafness, autosomal dominant type 2A|DFNA2A|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4|autosomal dominant deafness 2A|deafness, autosomal dominant 2A|autosomal dominant nonsyndromic deafness type 2A|KCNQ4 autosomal dominant nonsyndromic deafness											DOID:0110558|UMLS:C2677637|ICD10:H90.3|OMIM:600101|MESH:C567441																		owl:Class
HGNC:6298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012534	biolink:NamedThing	combined oxidative phosphorylation defect type 4	Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	mondoexuq1wtf	TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 4|combined oxidative phosphorylation deficiency 4|COXPD4|combined oxidative phosphorylation deficiency caused by mutation in TUFM											ICD10:E88.8|DOID:0111494|OMIM:610678|UMLS:C1857682|MESH:C565690|SCTID:766876004|Orphanet:254925																		owl:Class
HGNC:12420	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007863	biolink:NamedThing	Kleine-Levin syndrome	Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.	mondoexuq1wtf	Kleine-Levin syndrome|Kleine Levin syndrome|familial Kleine-Levin syndrome|Kleine-LEVIN hibernation syndrome|familial hibernation syndrome											GARD:0003117|EFO:1001354|OMIM:148840|SCTID:111488004|DOID:0060165|Orphanet:33543|UMLS:C0206085|MedDRA:10053712|MESH:D017593|ICD10:G47.8|NCIT:C84800														https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome				owl:Class
HGNC:5244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011725	biolink:NamedThing	Crigler-Najjar syndrome type 2	Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.	mondoexuq1wtf	Arias syndrome|Crigler-Najjar syndrome, type II|bilirubin-UGT deficiency type 2|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|Crigler Najjar syndrome, type 2|hereditary unconjugated hyperbilirubinemia type 2|hyperbilirubinemia, Crigler-Najjar type 2|Crigler-Najjar syndrome, type 2|UGT deficiency type 2											Orphanet:79235|SCTID:68067009|GARD:0008683|OMIM:606785|UMLS:C2931132|ICD10:E80.5|MESH:C536213|MedDRA:10011387														https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2				owl:Class
GO:0003940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001733	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004951	biolink:NamedThing	susceptibility to HIV infection	The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.	mondoexuq1wtf	HIV-1, resistance to|HIV-1, susceptibility to|human immunodeficiency virus type 1, susceptibility to|AIDS, progression to|human immunodeficiency virus type 1, resistance to|acquired immunodeficiency syndrome, progression to											UMLS:CN282826|OMIM:609423																		owl:Class
MONDO:0002177	biolink:NamedThing	hyperinsulinism	Abnormally high levels of insulin in the blood.	mondoexuq1wtf	hyperinsulinism|hyperinsulinemia|hyperinsulinism (disease)		hyperinsulinism (disease)									HP:0000842|MESH:D006946|DOID:2018|SCTID:83469008|ICD10:E16.1|UMLS:C0020459|ICD9:251.1																		owl:Class
HP:0000842	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017204	biolink:NamedThing	toxic maculopathy due to antimalarial drugs	Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	mondoexuq1wtf												SCTID:763621004|UMLS:CN202676|Orphanet:279894|ICD10:T37.2|ICD10:H35.3																		owl:Class
HGNC:24595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011935	biolink:NamedThing	retinitis pigmentosa 30	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.	mondoexuq1wtf	RP 30|FSCN2 retinitis pigmentosa|RP30|macular Degeneration|retinitis pigmentosa 30|retinitis pigmentosa caused by mutation in FSCN2|retinitis pigmentosa type 30											GARD:0010401|UMLS:C1842816|ICD10:H35.5|DOID:0110406|OMIM:607921																		owl:Class
HGNC:3960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009377	biolink:NamedThing	hyperammonemia due to N-acetylglutamate synthase deficiency	N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.	mondoexuq1wtf	N-acetylglutamate synthase deficiency|NAGS deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|NAG synthetase deficiency|Nags deficiency|N-acetylglutamate synthetase deficiency|N-acetyl glutamate synthetase deficiency|NAGSD											OMIM:237310|MESH:C536109|GARD:0007158|SCTID:57119000|Orphanet:927|ICD10:E72.2|NCIT:C129307																		owl:Class
HGNC:17996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011264	biolink:NamedThing	torsion dystonia 6	Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.	mondoexuq1wtf	adolescent-onset dystonia of mixed type|torsion dystonia type 6|generalized isolated dystonia caused by mutation in THAP1|DYT-THAP1|THAP1 generalized isolated dystonia|primary dystonia, DYT6 type|idiopathic torsion dystonia of mixed type|torsion dystonia adult onset mixed type|generalized cervical and upper-limb-onset dystonia|torsion dystonia, adult-onset, mixed type|dystonia 6|dystonia 6, torsion|DYT6											OMIM:602629|SCTID:702448007|UMLS:C1414216|Orphanet:98806|ICD10:G24.1|DOID:0090039|MESH:C538003|GARD:0009630																		owl:Class
HGNC:20856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014493	biolink:NamedThing	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.	mondoexuq1wtf	ALPS5|CTLA4 haploinsufficiency|autoimmune lymphoproliferative syndrome type V|ALPS type V|ALPS due to CTLA4 haploinsuffiency|chai|autoimmune lymphoproliferative syndrome type 5|CTLA4 haploinsufficiency with autoimmune infiltration|CTLA-4 haploinsufficiency with autoimmune infiltration disease|autoimmune lymphoproliferative syndrome, type 5|ALPS type 5|autoimmune lymphoproliferative syndrome, type V											Orphanet:436159|OMIM:616100|UMLS:C4015214|NCIT:C126341|GARD:0012316|ICD10:D47.9														https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency				owl:Class
HGNC:2505	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020787	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability 1		mondoexuq1wtf	HOMGSMR1|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1											OMIM:616418																		owl:Class
HGNC:6545	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011703	biolink:NamedThing	spongiform encephalopathy with neuropsychiatric features		mondoexuq1wtf	spongiform encephalopathy with neuropsychiatric features											MESH:C564678|UMLS:C1847650|OMIM:606688																		owl:Class
NCBITaxon:41820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034972	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010635	biolink:NamedThing	hypogonadotropic hypogonadism 1 with or without anosmia	The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.	mondoexuq1wtf	anosmic hypogonadism|ANOS1 hypogonadotropic hypogonadism|KAL1|dysplasia olfactogenitalis of de Morsier|hypogonadotropic hypogonadism 1 with or without anosmia|KMS|Kallmann syndrome, X-linked|HH1|Kallmann syndrome 1|hypogonadotropic hypogonadism and anosmia|Kallmann syndrome, type 1, X-linked|dysplasia Olfactogenitalis of De Morsier|hypogonadotropic hypogonadism caused by mutation in ANOS1											OMIM:308700|ICD10:E23.0|GARD:0003071|UMLS:C1563719|DOID:0090094|NCIT:C75480																		owl:Class
HGNC:6211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031694	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006672	biolink:NamedThing	balanitis	An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.	mondoexuq1wtf	inflammation of glans penis|glans penis inflammation|balanitis											MedDRA:10004073|MESH:D001446|SCTID:44882003|EFO:1000833|NCIT:C26705|UMLS:C0004690|DOID:13033|ICD10:N48.1																		owl:Class
MONDO:0003969	biolink:NamedThing	amphetamine abuse	Disorders related or resulting from use of amphetamines.	mondoexuq1wtf												ICD9:305.70|COHD:432878|MESH:D019969|ICD9:305.7|DOID:670|SCTID:84758004																		owl:Class
CHEBI:2679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2928	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015396	biolink:NamedThing	congenital laryngeal cyst	Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	mondoexuq1wtf												UMLS:C0339880|SCTID:765763007|ICD10:Q31.8|Orphanet:141124																		owl:Class
HP:0100640	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013485	biolink:NamedThing	spinocerebellar ataxia type 35	Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.	mondoexuq1wtf	spinocerebellar ataxia type 35|SCA35|spinocerebellar ataxia 35											ICD10:G11.8|UMLS:C4304822|GARD:0012366|UMLS:CN202597|Orphanet:276193|OMIM:613908|DOID:0050982|SCTID:719300001																		owl:Class
HGNC:16255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18640	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010167	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014992	biolink:NamedThing	lissencephaly 8	Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.	mondoexuq1wtf	lissencephaly 8; LIS8|TMTC3 lissencephaly (disease)|lissencephaly type 8|lissencephaly 8|LIS8|lissencephaly (disease) caused by mutation in TMTC3											OMIM:617255|UMLS:C4310646																		owl:Class
HGNC:26899	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:18405	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012381	biolink:NamedThing	hyperinsulinism due to INSR deficiency	Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	mondoexuq1wtf	hyperinsulinemic hypoglycemia, familial, type 5|hyperinsulinemic hypoglycemia due to INSR deficiency|hyperinsulinemic hypoglycemia due to insulin receptor deficiency|HHF5|hyperinsulinemic hypoglycemia, familial, 5											Orphanet:263458|MESH:C566494|ICD10:E16.1|DOID:0070220|OMIM:609968|SCTID:721235003|UMLS:C1864952																		owl:Class
MONDO:0012480	biolink:NamedThing	diabetes mellitus, transient neonatal, 2	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.	mondoexuq1wtf	ABCC8 transient neonatal diabetes mellitus (disease)|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|Tndm2|diabetes mellitus, transient neonatal, 2|diabetes mellitus, transient neonatal, type 2											MESH:C563672|UMLS:C1835887|SCTID:609580007|OMIM:610374																		owl:Class
GO:0010669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014835	biolink:NamedThing	striatal degeneration, autosomal dominant 2	Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.	mondoexuq1wtf	PDE10A striatal degeneration, autosomal dominant|striatal Degeneration, autosomal dominant 2|striatal degeneration, autosomal dominant 2; ADSD2|ADSD2|striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant caused by mutation in PDE10A											UMLS:C4310791|OMIM:616922																		owl:Class
HGNC:8772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0033280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002503	biolink:NamedThing	adult astrocytic tumour	An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.	mondoexuq1wtf	adult astrocytic neoplasm|astrocytic tumor|adult astrocytoma|adult astrocytic tumor											UMLS:C1332183|NCIT:C7049|DOID:3076																		owl:Class
HGNC:15465	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000451	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008263	biolink:NamedThing	polycystic kidney disease 1	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.	mondoexuq1wtf	PKD1 autosomal dominant polycystic kidney disease|PKD1|polycystic kidney disease, adult, type I|polycystic kidney disease 1 with or without polycystic liver disease|Potter type 3 polycystic kidney disease|polycystic kidney disease, adult, type 1|autosomal dominant polycystic kidney disease caused by mutation in PKD1|APKD1|Potter type 3 polycystic kidney disease, formerly|polycystic kidney disease, adult|polycystic kidney disease type 1|polycystic kidney disease 1											UMLS:C3149841|OMIM:173900|MESH:C536326|DOID:0110858|SCTID:253878003																		owl:Class
MONDO:0009699	biolink:NamedThing	action myoclonus-renal failure syndrome	Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.	mondoexuq1wtf	myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epilepsy, progressive myoclonic, 4, with or without renal failure|AMRF|EPM4|action myoclonus-renal failure syndrome											OMIM:254900|Orphanet:163696|SCTID:764453009																		owl:Class
HGNC:1665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015725	biolink:NamedThing	mosaic trisomy 14	Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.	mondoexuq1wtf	trisomy 14 mosaicism|Mosaic trisomy chromosome 14|Mosaic trisomy type 14											UMLS:C2930917|Orphanet:1703|ICD10:Q92.1|SCTID:764466009|GARD:0001327|NCIT:C116319|MESH:C535489														https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14				owl:Class
MONDO:0014177	biolink:NamedThing	myopia 22, autosomal dominant		mondoexuq1wtf	myopia 22, autosomal dominant|MYP22											UMLS:C3809464|OMIM:615420																		owl:Class
HGNC:26575	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9438	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010023	biolink:NamedThing	combined immunodeficiency due to ZAP70 deficiency	Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	mondoexuq1wtf	severe combined immunodeficiency due to ZAP70 deficiency|STCD|IMD48|immunodeficiency 48|selective T-cell defect|ZAP-70 deficiency|zeta-associated-protein 70 deficiency											OMIM:269840|SCTID:716378008|MESH:C536722|GARD:0000387|ICD10:D81.8|Orphanet:911																		owl:Class
HGNC:12858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013595	biolink:NamedThing	hyperbiliverdinemia	Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.	mondoexuq1wtf	HBLVD|green jaundice|hyperbiliverdinemia											OMIM:614156|UMLS:C3279964|ICD10:K76.8|Orphanet:276405																		owl:Class
HGNC:26877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002369	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014295	biolink:NamedThing	hereditary spastic paraplegia 57	An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 57|hereditary spastic paraplegia caused by mutation in TFG|hereditary spastic paraplegia type 57|spastic paraplegia 57, autosomal recessive|TFG hereditary spastic paraplegia|spastic paraplegia due to partial TFG deficiency|SPG57|autosomal recessive spastic paraplegia 57											ICD10:G11.4|UMLS:C3714897|DOID:0110809|SCTID:723826007|Orphanet:431329|OMIM:615658|UMLS:C4510084|EFO:0009017																		owl:Class
HGNC:11758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012573	biolink:NamedThing	vesicoureteral reflux 2	Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.	mondoexuq1wtf	vesicoureteral reflux (disease) caused by mutation in ROBO2|ROBO2 vesicoureteral reflux (disease)|vesicoureteral reflux 2|VUR2|vesicoureteral reflux type 2											UMLS:C1970483|OMIM:610878|MESH:C567053																		owl:Class
HGNC:10250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0032274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010370	biolink:NamedThing	Cornelia de Lange syndrome 2	An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.	mondoexuq1wtf	Cornelia de Lange syndrome caused by mutation in SMC1A|Cornelia de Lange syndrome 2|CDLS2|Cornelia De Lange syndrome type 2|X-linked Cornelia De Lange syndrome|Cdls, X-linked|Cornelia De Lange syndrome, X-linked|Cornelia DE Lange syndrome 2|SMC1A Cornelia de Lange syndrome											NCIT:C75485|OMIM:300590|DOID:0080506|UMLS:C1802395																		owl:Class
HGNC:11111	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032625	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 21		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21|MC1DN21											OMIM:618242																		owl:Class
HGNC:20278	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014927	biolink:NamedThing	Joubert syndrome 27	Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.	mondoexuq1wtf	Joubert syndrome 27|B9D1 Joubert syndrome|Joubert syndrome type 27|Joubert syndrome caused by mutation in B9D1|JBTS27											DOID:0110996|OMIM:617120|UMLS:C4310706																		owl:Class
HGNC:3800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr8	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:481310	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017690	biolink:NamedThing	disorder of galactose metabolism		mondoexuq1wtf												SCTID:237963003|ICD10:E74.2|UMLS:C0342745|Orphanet:308467																		owl:Class
GO:0006012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:53436	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4223	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25538	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002098	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014229	biolink:NamedThing	microphthalmia, syndromic 12	Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.	mondoexuq1wtf	microphthalmia, syndromic 12|syndromic microphthalmia-12|RARB syndromic microphthalmia|MCOPS12|syndromic microphthalmia caused by mutation in RARB|microphthalmia, syndromic type 12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects											GARD:0013235|UMLS:C3809803|OMIM:615524														https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12				owl:Class
HGNC:9865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001994	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012904	biolink:NamedThing	epilepsy, progressive myoclonic, 1B	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.	mondoexuq1wtf	progressive myoclonic epilepsy caused by mutation in PRICKLE1|EPM1B|PRICKLE1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 1B|epilepsy, progressive myoclonic, 1B											DOID:0111448|ICD9:345.10|OMIM:612437|MESH:C580388|SCTID:702326000|UMLS:C2676254																		owl:Class
HGNC:17019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010832	biolink:NamedThing	Bardet-Biedl syndrome 3		mondoexuq1wtf	BBS3|Bardet-Biedl syndrome type 3|Bardet-Biedl syndrome 3											UMLS:C1859564|OMIM:600151|GARD:0000822|DOID:0110125|MESH:C537911|ICD10:Q87.89														https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3				owl:Class
HP:0003124	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014981	biolink:NamedThing	immunodeficiency 49	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.	mondoexuq1wtf	primary immunodeficiency disease caused by mutation in BCL11B|immunodeficiency 49; IMD49|immunodeficiency type 49|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49|BCL11B primary immunodeficiency disease|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|IMD49											UMLS:C4310656|OMIM:617237																		owl:Class
HGNC:13222	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:42231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013215	biolink:NamedThing	autosomal recessive nonsyndromic deafness 79	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.	mondoexuq1wtf	autosomal recessive deafness 79|deafness, autosomal recessive 79|TPRN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TPRN|autosomal recessive nonsyndromic deafness type 79|deafness, autosomal recessive type 79|DFNB79											DOID:0110526|UMLS:C2750082|ICD10:H90.3|MESH:C567651|OMIM:613307																		owl:Class
HGNC:26894	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012522	biolink:NamedThing	diabetes mellitus, transient neonatal, 3	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.	mondoexuq1wtf	diabetes mellitus, transient neonatal, type 3|diabetes mellitus, transient neonatal, 3|diabetes mellitus, type II, autosomal dominant|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|Tndm3|KCNJ11 transient neonatal diabetes mellitus (disease)											OMIM:610582|SCTID:609581006																		owl:Class
GO:0004029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:662	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007181	biolink:NamedThing	axial osteomalacia		mondoexuq1wtf	axial osteomalacia|atypical osteomalacia involving the axial skeleton											DOID:0080039|GARD:0008431|UMLS:C1862372|OMIM:109130|MESH:C537791														https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia				owl:Class
MONDO:0043555	biolink:NamedThing	infantile diarrhea	Diarrhea occurring in infants from newborn to 24-months old.	mondoexuq1wtf	infantile Diarrheas|infantile diarrheal disease|infantile diarrhea|Diarrheas, infantile|infantile onset diarrheal disease|toddler diarrhea|diarrheal disease of infancy											UMLS:C0473132|SCTID:39963006|MESH:D003968																		owl:Class
HP:0002224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5833	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012626	biolink:NamedThing	Meckel syndrome, type 4	Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.	mondoexuq1wtf	Meckel syndrome, type 4|Meckel-Gruber syndrome, type 4|Meckel-like Cerebrorenodigital syndrome|MKS4|Meckel syndrome caused by mutation in CEP290|CEP290 Meckel syndrome|Meckel syndrome 4											UMLS:C1970161|DOID:0070118|OMIM:611134|ICD10:Q61.9																		owl:Class
HGNC:29021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2916	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011790	biolink:NamedThing	Amish lethal microcephaly	Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.	mondoexuq1wtf	MCPHA|Amish lethal microcephaly|microcephaly, Amish type|thiamine metabolism dysfunction syndrome 3 (microcephaly type)											ICD10:Q02|UMLS:C1846648|Orphanet:99742|MESH:C538247|OMIM:607196|GARD:0008606|SCTID:702437000														https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly				owl:Class
HGNC:14409	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004864	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:92	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005556	biolink:NamedThing	lupus nephritis	Glomerulonephritis in the context of systemic lupus erythematosus.	mondoexuq1wtf	glomerulonephritis, lupus|Nephritides, lupus|Glomerulonephritides, lupus|lupus Glomerulonephritides|SLE nephritis|lupus glomerulonephritis|nephritis, lupus|lupus Nephritides|lupus nephritis											NCIT:C34789|MESH:D008181|EFO:0005761|SCTID:68815009|GARD:0010747|UMLS:C0024143|DOID:0080162														https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis				owl:Class
MONDO:0032621	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 16		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16|MC1DN16											OMIM:618238																		owl:Class
HGNC:15899	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0071830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011921	biolink:NamedThing	aural atresia, congenital		mondoexuq1wtf	aural atresia, congenital, with hyposmia|aural atresia, congenital|CAA											OMIM:607842|UMLS:C1842937|MESH:C564321																		owl:Class
HGNC:10669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29659	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008954	biolink:NamedThing	peroxisome biogenesis disorder 2A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder 2A (Zellweger)|peroxisome biogenesis disorder, complementation group 2|PBD2A											DOID:0080477|OMIM:214110|UMLS:C3550273														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
GO:0045061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009866	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency, cytosolic	PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).	mondoexuq1wtf	phosphoenolpyruvate carboxykinase deficiency, cytosolic|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency|PCK1 deficiency, cytosolic|PEPCK deficiency, cytosolic|phosphopyruvate carboxylase deficiency|PEPCK1 deficiency|phosphoenolpyruvate carboxylase deficiency|PEP carboxykinase deficiency|phosphoenolpyruvate carboxykinase deficiency|PCKDC|PEPCK 1 deficiency											GARD:0004278|OMIM:261680|Orphanet:79316																		owl:Class
HGNC:8724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009818	biolink:NamedThing	autosomal recessive osteopetrosis 3	Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.	mondoexuq1wtf	Autosomal Recessive osteopetrosis, type 3|Guibaud Vainsel syndrome|renal tubular acidosis type 3|Guibaud-Vainsel syndrome|osteopetrosis with renal tubular acidosis|autosomal recessive osteopetrosis type 3|mixed RTA|osteopetrosis, autosomal recessive 3|osteopetrosis, autosomal recessive type 3|autosomal recessive osteopetrosis 3 with renal tubular acidosis|mixed renal tubular acidosis|OPTB3|CA2 osteopetrosis (disease)|carbonic anhydrase II deficiency|marble brain disease|osteopetrosis autosomal recessive 3|carbonic anhydrase 2 deficiency|osteopetrosis (disease) caused by mutation in CA2											ICD10:Q78.2|DOID:0110941|ICD9:588.89|OMIM:259730|MESH:C536058|NCIT:C118438|SCTID:254122007|GARD:0004154|Orphanet:2785														https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3				owl:Class
HGNC:1373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012731	biolink:NamedThing	elliptocytosis 1	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.	mondoexuq1wtf	elliptocytosis 1|Protein 4.1 of erythrocyte Membrane, defect of|4.1- trait|elliptocytosis type 1|hereditary elliptocytosis caused by mutation in EPB41|EL1|EPB41 hereditary elliptocytosis|4.1-minus trait|elliptocytosis, Rhesus-linked type											MESH:C567520|UMLS:C2678497|OMIM:611804																		owl:Class
HGNC:3377	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005718	biolink:NamedThing	Coronaviridae infectious disease	Virus diseases caused by coronaviridae.	mondoexuq1wtf												UMLS:C0010078|EFO:0007223																		owl:Class
NCBITaxon:11118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2518	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009815	biolink:NamedThing	autosomal recessive osteopetrosis 1	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.	mondoexuq1wtf	osteopetrosis, autosomal recessive 1|autosomal recessive Albers-Schonberg disease|TCIRG1 autosomal recessive malignant osteopetrosis|autosomal recessive osteopetrosis caused by mutation in TCIRG1|osteopetrosis, infantile malignant 1|marble bones, autosomal recessive|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive type 1|Albers-Schonberg disease, autosomal recessive|TCIRG1 autosomal recessive osteopetrosis|infantile malignant osteopetrosis 1|marble bones autosomal recessive|osteopetrosis infantile malignant 1|OPTB1|osteopetrosis autosomal recessive 1|autosomal recessive osteopetrosis type 1											DOID:0110942|OMIM:259700|MESH:C564915|GARD:0002579														https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1				owl:Class
HGNC:11647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006911	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014242	biolink:NamedThing	van Maldergem syndrome 2	Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.	mondoexuq1wtf	FAT4 van Maldergem syndrome|VAN Maldergem syndrome 2|Van Maldergem syndrome type 2|van Maldergem syndrome 2|van Maldergem syndrome caused by mutation in FAT4|VMLDS2											UMLS:C3809875|DOID:0080586|OMIM:615546																		owl:Class
HGNC:23109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013482	biolink:NamedThing	Meckel syndrome, type 8	Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	mondoexuq1wtf	TCTN2 Meckel syndrome|MKS8|Meckel-Gruber syndrome, type 8|Meckel syndrome 8|Meckel syndrome, type 8|Meckel syndrome caused by mutation in TCTN2											DOID:0070122|OMIM:613885|ICD10:Q61.9|UMLS:C3836857																		owl:Class
HGNC:25774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013924	biolink:NamedThing	osteogenesis imperfecta type 13	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.	mondoexuq1wtf	OI, type 13|osteogenesis imperfecta caused by mutation in BMP1|osteogenesis imperfecta, type XIII|osteogenesis imperfecta type XIII|osteogenesis imperfecta, type 13|OI13|BMP1 osteogenesis imperfecta											UMLS:C3553887|DOID:0110342|OMIM:614856|ICD10:Q78.0																		owl:Class
HGNC:1067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001617	biolink:NamedThing	transient global amnesia	A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.	mondoexuq1wtf	transient global amnesia|transient global amnesia (disease)		transient global amnesia (disease)									GARD:0008172|ICD9:437.7|ICD10:G45.4|COHD:437306|MESH:D020236|HP:0010534|NCIT:C85198|DOID:13027																		owl:Class
MONDO:0018733	biolink:NamedThing	intellectual disability syndrome due to a DYRK1A point mutation		mondoexuq1wtf	DYRK1A-related intellectual disability syndrome due to a point mutation											Orphanet:464311|UMLS:CN242084																		owl:Class
MONDO:0017014	biolink:NamedThing	interstitial lung disease specific to childhood	A interstitial lung disease that occurs during childhood.	mondoexuq1wtf	interstitial lung disease of childhood|childhood interstitial lung disease|ILD specific to childhood|pediatric interstitial lung disease											Orphanet:264656|UMLS:CN202324|SCTID:328661000119108																		owl:Class
MONDO:0011337	biolink:NamedThing	familial hemophagocytic lymphohistiocytosis 2	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.	mondoexuq1wtf	Hplh2|FHL2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|Hlh2|HLH2|PRF1 genetic hemophagocytic lymphohistiocytosis|HPLH2|hemophagocytic lymphohistiocytosis, familial, 2|hemophagocytic lymphohistiocytosis, familial, type 2|familial hemophagocytic lymphohistiocytosis type 2											OMIM:603553|MESH:C537250|DOID:0110922|GARD:0009922														https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2				owl:Class
HGNC:9360	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024557	biolink:NamedThing	ataxia-telangiectasia-like disorder 1	Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.	mondoexuq1wtf	ATLD1|MRE11 ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder 1|MRE11 ataxia-telangiectasia-like disorder|ataxia-telangiectasia-like disorder caused by mutation in MRE11|ataxia - telangiectasia-like disorder caused by mutation in MRE11|Atld											NCIT:C132224|UMLS:C1858391|Orphanet:251347|OMIM:604391																		owl:Class
HGNC:7230	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005220	biolink:NamedThing	collecting duct carcinoma	A carcinoma that arises from epithelial cells of the collecting duct of renal tubule	mondoexuq1wtf	kidney collecting duct carcinoma|cDC|carcinoma of collecting ducts of Bellini|Bellini’s duct carcinoma|collecting duct renal cancer|carcinoma of the collecting ducts of Bellini|carcinoma of renal collecting duct|collecting duct of renal tubule carcinoma|carcinoma of collecting duct of renal tubule|carcinoma of the kidney collecting duct|renal carcinoma, collecting duct type|Bellini duct carcinoma|BDC|Bellini carcinoma|carcinoma of kidney collecting duct|renal medullary carcinoma|collecting duct carcinoma|carcinoma of the renal collecting duct|collecting duct carcinoma of the kidney|collecting duct renal cell carcinoma|renal collecting duct carcinoma											DOID:4464|GARD:0009573|NCIT:C6194|UMLS:C1266044|ICD10:C64|ICDO:8319/3|Orphanet:247203|ONCOTREE:CDRCC|EFO:0003016																		owl:Class
UBERON:0001232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004079	biolink:NamedThing	lung mucous gland adenoma	A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.	mondoexuq1wtf	bronchial cystadenoma|adenoma of bronchial mucous gland|lung mucous gland adenoma|lung polyadenoma|adenoma of bronchial mucus gland|adenoma of the bronchial mucus gland|adenoma of the bronchial mucous gland|bronchial mucus gland adenoma											UMLS:C1332640|NCIT:C5664|DOID:7030																		owl:Class
UBERON:0019190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012665	biolink:NamedThing	cataract 33	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.	mondoexuq1wtf	cataract 33, multiple types|early-onset non-syndromic cataract caused by mutation in BFSP1|CTRCT33|cataract 33, cortical|cataract type 33|cortical cataract 33|BFSP1 early-onset non-syndromic cataract|cataract 33											ICD10:Q12.0|MESH:C566955|DOID:0110264|UMLS:C3808107|Orphanet:217046|Orphanet:217052|OMIM:611391																		owl:Class
HGNC:1040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5248	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14963	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008878	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002524	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17208	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006544	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018355	biolink:NamedThing	Prader-Willi-like syndrome due to point mutation		mondoexuq1wtf	PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation|PWS-like due to point mutation											Orphanet:398079|ICD10:Q87.1|UMLS:CN226095																		owl:Class
HGNC:16966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011275	biolink:NamedThing	acromesomelic dysplasia, Maroteaux type	A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	mondoexuq1wtf	acromesomelic dysplasia Maroteaux type|acromesomelic dwarfism Maroteux type|AMDM|acromesomelic dysplasia, Maroteaux type|St. Helena dysplasia											GARD:0000507|DOID:0080050|MESH:C535661|SCTID:718559000|Orphanet:40|ICD10:Q77.8|OMIM:602875														https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type				owl:Class
GO:0015152	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006470	biolink:NamedThing	tonsillar squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.	mondoexuq1wtf	scc of tonsil|scc of the tonsil|tonsil scc|palatine tonsil squamous cell carcinoma|squamous cell carcinoma of tonsil|tonsillar scc|squamous cell carcinoma of the tonsil											UMLS:C0280317|EFO:1000597|NCIT:C8183																		owl:Class
HGNC:14153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014618	biolink:NamedThing	retinitis pigmentosa 71	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.	mondoexuq1wtf	retinitis pigmentosa type 71|IFT172 retinitis pigmentosa|RP71|retinitis pigmentosa 71|retinitis pigmentosa caused by mutation in IFT172											DOID:0110363|OMIM:616394|ICD10:H35.5|UMLS:C4225342																		owl:Class
MONDO:0011031	biolink:NamedThing	autosomal dominant nonsyndromic deafness 10	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness type 10|deafness, autosomal dominant 10|DFNA10|EYA4 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|autosomal dominant deafness 10											ICD10:H90.3|DOID:0110542|UMLS:C1832476|MESH:C563354|OMIM:601316																		owl:Class
MONDO:0012446	biolink:NamedThing	seborrhea-like dermatitis with psoriasiform elements		mondoexuq1wtf	seborrhea-like dermatitis with psoriasiform elements											UMLS:C1853258|OMIM:610227|MESH:C565217|Orphanet:168606																		owl:Class
HGNC:25843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6427	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001333	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014934	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 24	Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.	mondoexuq1wtf	spinocerebellar ataxia, autosomal recessive 24; SCAR24|spinocerebellar ataxia, autosomal recessive 24|spinocerebellar ataxia, autosomal recessive type 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5|SCAR24|UBA5 autosomal dominant cerebellar ataxia											UMLS:C4310699|OMIM:617133|DOID:0111615																		owl:Class
UBERON:0036268	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10880	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C53637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0010259	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012208	biolink:NamedThing	congenital reticular ichthyosiform erythroderma		mondoexuq1wtf	ichthyosis variegata|erythrokeratoderma, reticular|erythroderma, ichthyosiform, congenital reticular|ichthyosis with confetti|Aarau disease|IWC|CRIE											UMLS:C3665704|OMIM:609165|Orphanet:281190|SCTID:703504006|MESH:C563781																		owl:Class
HGNC:6413	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001821	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6264	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3495	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008603	biolink:NamedThing	trigonocephaly 1	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.	mondoexuq1wtf	isolated trigonocephaly caused by mutation in FGFR1|trigonocephaly 1|FGFR1 isolated trigonocephaly|TRIGNO1|craniosynostosis, metopic|trigonocephaly type 1											OMIM:190440																		owl:Class
MONDO:0100268	biolink:NamedThing	peroxisome biogenesis disorder due to PEX14 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.	mondoexuq1wtf	peroxisome biogenesis disorder due to PEX14 defect|PEX14 related Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
HGNC:8856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:37276	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005634	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0022277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005992	biolink:NamedThing	trichinosis	A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling.	mondoexuq1wtf	Trichinella disease or disorder|Trichinellosis|Trichinella caused disease or disorder|Trichinella infectious disease|Trichinella spiralis infection											DOID:9784|ICD10:B75|EFO:0007520|NCIT:C85199|ICD9:124																		owl:Class
NCBITaxon:121759	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2482	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7095	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002199	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014410	biolink:NamedThing	spinocerebellar ataxia type 37	Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.	mondoexuq1wtf	spinocerebellar ataxia with altered vertical eye movements|spinocerebellar ataxia 37|SCA37											DOID:0050984|Orphanet:363710|OMIM:615945|UMLS:C3889636|UMLS:C4304821|SCTID:719301002|ICD10:G11.8|GARD:0012368																		owl:Class
HGNC:2661	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003608	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005956	biolink:NamedThing	septicemic plague	A plague in which the bacteria have entered the bloodstream.	mondoexuq1wtf												SCTID:9012003|ICD9:020.2|EFO:0007481|UMLS:C0152936|DOID:3481|ICD10:A20.7																		owl:Class
HP:0001025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009845	biolink:NamedThing	pelviscapular dysplasia	Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	mondoexuq1wtf	Cousin syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature|pelviscapular dysplasia|COUSIN syndrome|craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|familial pelvis-scapular dysplasia											MESH:C535550|Orphanet:93333|OMIM:260660|SCTID:719299009|UMLS:C1850040|ICD10:Q87.5|GARD:0001555																		owl:Class
HGNC:11594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015052	biolink:NamedThing	primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.	mondoexuq1wtf	primary ILD specific to childhood due to pulmonary surfactant protein anomalies											Orphanet:100049|UMLS:CN197343																		owl:Class
MONDO:0014372	biolink:NamedThing	cone-rod dystrophy 19	Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.	mondoexuq1wtf	TTLL5 cone-rod dystrophy|cone-rod dystrophy caused by mutation in TTLL5|CORD19|cone-rod dystrophy 19|cone-rod dystrophy type 19											DOID:0111025|UMLS:C4014501|OMIM:615860																		owl:Class
HGNC:19963	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009849	biolink:NamedThing	hyperimmunoglobulinemia D with periodic fever	Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).	mondoexuq1wtf	periodic fever Dutch type|hyperimmunoglobulinemia D syndrome|partial mevalonate kinase deficiency|hyperimmunoglobulinemia D and periodic fever syndrome|hyper-IgD syndrome|periodic fever, Dutch type|hyper IgD syndrome|hyperimmunoglobinemia D with recurrent fever|HIDS											OMIM:260920|ICD10:E85.0|Orphanet:343|UMLS:C0398691|GARD:0002788																		owl:Class
HGNC:7530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014088	biolink:NamedThing	advanced sleep phase syndrome 2	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.	mondoexuq1wtf	advanced sleep phase syndrome, familial, type 2|advanced sleep phase syndrome type 2|advanced sleep phase syndrome, familial, 2|CSNK1D advanced sleep phase syndrome|FASPS2|familial advanced sleep phase syndrome 2|advanced sleep phase syndrome caused by mutation in CSNK1D											UMLS:C3808874|DOID:0110012|OMIM:615224																		owl:Class
HGNC:2452	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001694	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008393	biolink:NamedThing	Rubinstein-Taybi syndrome due to CREBBP mutations	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.	mondoexuq1wtf	Rubinstein syndrome|broad thumbs and great toes, characteristic facies, and mental retardation|Rubinstein-Taybi syndrome 1|CREBBP Rubinstein-Taybi syndrome|broad thumb-hallux syndrome|Rubinstein-Taybi syndrome caused by mutation in CREBBP|RSTS|broad thumbs and great toes, characteristic facies, and intellectual disability|Rubinstein-Taybi syndrome type 1|RSTS1											NCIT:C153290|ICD10:Q87.2|Orphanet:353277|OMIM:180849																		owl:Class
HGNC:2348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001068	biolink:NamedThing	osteomalacia	A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003	mondoexuq1wtf	osteomalacia|osteomalacia (disease)		osteomalacia (disease)									MESH:D010018|NCIT:C26838|ICD9:268.2|SCTID:4598005|EFO:1002027|COHD:432594|GARD:0007285|HP:0002749|DOID:10573																		owl:Class
HGNC:2394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8854	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007365	biolink:NamedThing	seizures, benign familial neonatal, 1	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.	mondoexuq1wtf	seizures, benign familial neonatal, type 1|seizures, benign familial neonatal, 1, and/or myokymia|KCNQ2 benign neonatal seizures|epilepsy, benign neonatal, 1, and/or myokymia|BFNS1|benign neonatal seizures caused by mutation in KCNQ2|seizures, benign familial neonatal, 1											MESH:C567743|OMIM:121200|UMLS:C3149074																		owl:Class
CL:0000234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005773	biolink:NamedThing	Gerstmann syndrome	Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.	mondoexuq1wtf	developmental Gerstmann syndrome|Gerstmann Badal syndrome|GS|aphasia-angular gyrus syndrome|Gerstmann tetrad											SCTID:36785009|MESH:D005862|ICD10:F81.2|GARD:0008660|DOID:4969|MedDRA:10048608|Orphanet:221117|EFO:0007285|ICD9:784.69														https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome				owl:Class
HGNC:94	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8952	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008070	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14897	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1546	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0000096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002868	biolink:NamedThing	bile duct mucinous cystic neoplasm with an associated invasive carcinoma	A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.	mondoexuq1wtf	biliary cystadenocarcinoma|bile duct cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma of bile duct|bile duct cystadenocarcinoma|bile duct mucinous cystic neoplasm with an associated invasive carcinoma|cystadenocarcinoma of the bile duct					Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component						DOID:4075|NCIT:C4130|ICDO:8161/3|UMLS:C0334286																		owl:Class
UBERON:0001157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0050886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013307	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 2	Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.	mondoexuq1wtf	myopathy, lactic acidosis, and sideroblastic anemia 2|myopathy, lactic acidosis, and sideroblastic Anemia type 2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|MLASA2|YARS2 mitochondrial myopathy and sideroblastic anemia											OMIM:613561|UMLS:C3150802|DOID:0111186																		owl:Class
HGNC:24249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024469	biolink:NamedThing	chondrogenic neoplasm	A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.	mondoexuq1wtf	chondromatous neoplasm|chondrogenic neoplasm|neoplasm of cartilage|tumor of the cartilage|cartilaginous tumor|cartilaginous neoplasm|tumor of cartilage|chondromatous tumor|chondrogenic tumor|neoplasm of the cartilage											NCIT:C4755|UMLS:C0476147																		owl:Class
CL:0000138	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014817	biolink:NamedThing	nephrotic syndrome, type 12	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.	mondoexuq1wtf	NUP93 familial nephrotic syndrome|NPHS12|nephrotic syndrome, type 12|nephrotic syndrome, type 12; NPHS12|familial nephrotic syndrome caused by mutation in NUP93											UMLS:C4225166|DOID:0080387|OMIM:616892																		owl:Class
HGNC:28958	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013807	biolink:NamedThing	congenital stationary night blindness 1E	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.	mondoexuq1wtf	night blindness, congenital stationary, type 1E|GPR179 congenital stationary night blindness|congenital stationary night blindness caused by mutation in GPR179|CSNB1E|congenital stationary night blindness type 1E|Csnb, complete, autosomal recessive|congenital stationary night blindness 1E autosomal recessive											UMLS:C3281215|OMIM:614565|DOID:0110869																		owl:Class
HGNC:31371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014752	biolink:NamedThing	nephrotic syndrome, type 11	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.	mondoexuq1wtf	nephrotic syndrome, type 11; NPHS11|familial nephrotic syndrome caused by mutation in Nup107|nephrotic syndrome, type 11|NUP107 familial nephrotic syndrome|NPHS11|familial nephrotic syndrome caused by mutation in NUP107|Nup107 familial nephrotic syndrome											OMIM:616730|DOID:0080385|UMLS:C4225228																		owl:Class
HGNC:29914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018486	biolink:NamedThing	visual snow syndrome	Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.	mondoexuq1wtf	visual snow											ICD10:H53.8|GARD:0012062|Orphanet:420556|UMLS:CN237477														https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome				owl:Class
NCBITaxon:129726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:181088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12687	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016567	biolink:NamedThing	locked-in syndrome	Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.	mondoexuq1wtf	locked-in state|Cerebromedullospinal disconnection|locked in syndrome											GARD:0006919|SCTID:38023001|Orphanet:2406|ICD10:G83.8|COHD:434644|ICD9:344.81|DOID:12697|ICD10:G83.5|MedDRA:10024792														https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome				owl:Class
HGNC:14377	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021324	biolink:NamedThing	malignant neoplasm of abdominal esophagus	A cancer that involves the abdominal part of esophagus.	mondoexuq1wtf	malignant tumor of the abdominal esophagus|malignant abdominal part of esophagus neoplasm|cancer of abdominal part of esophagus|abdominal part of esophagus cancer|malignant neoplasm of the abdominal esophagus|malignant neoplasm of abdominal part of esophagus											ICD9:150.2|NCIT:C4764|SCTID:187724003|UMLS:C0496775																		owl:Class
UBERON:0035177	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014292	biolink:NamedThing	leukoencephalopathy with mild cerebellar ataxia and white matter edema		mondoexuq1wtf	LKPAT|leukoencephalopathy with ataxia											NCIT:C171603|UMLS:C3810242|SCTID:768663003|OMIM:615651|Orphanet:363540|ICD10:E75.2																		owl:Class
GO:0004485	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:46919	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000127	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004363	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:930	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26270	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0015215	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17340	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:427	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:33862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29174	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:361	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004832	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2973	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018072	biolink:NamedThing	persistent truncus arteriosus	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.	mondoexuq1wtf	truncus arteriosus|common truncus arteriosus|TAC|persistent truncus arteriosus|common aorticopulmonary trunk|common arterial trunk|persistent truncus arteriosus (disease)		persistent truncus arteriosus (disease)									COHD:441950|Orphanet:3384|GARD:0007375|NCIT:C98880|ICD10:Q20.0																		owl:Class
HP:0001660	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20692	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30172	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18358	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004969	biolink:NamedThing	acute quadriplegic myopathy	Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.	mondoexuq1wtf												EFO:0000225																		owl:Class
UBERON:0004535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100215	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications 1		mondoexuq1wtf	NEDBLLA|Rajab syndrome|brain calcification, Rajab type|developmental delay, small stature, microcephaly, and brain calcifications|neurodevelopmental disorder with brain, liver, and lung abnormalities							http://orcid.org/0000-0001-5208-3432				SCTID:720576001|Orphanet:178506|UMLS:C3150910|OMIM:613658|OMIM:618007|UMLS:CN248515																		owl:Class
HGNC:17800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15840	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012216	biolink:NamedThing	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome		mondoexuq1wtf	foveal hypoplasia 2|FHONDA syndrome|foveal hypoplasia type 2|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|FVH2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism											OMIM:609218|Orphanet:397618|MESH:C563774|ICD10:Q15.8																		owl:Class
HGNC:32434	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24891	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022993	biolink:NamedThing	dipsogenic diabetes insipidus	Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.	mondoexuq1wtf	primary polydipsia|dipsogenic diabetes insipidus|Dipsogenic diabetes insipidus											MESH:C548013|UMLS:C0268813|GARD:0010703|SCTID:82800008|NCIT:C129735														https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus				owl:Class
NCBITaxon:5970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019480	biolink:NamedThing	Langerhans cell sarcoma	A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)	mondoexuq1wtf	Langerhans cell sarcoma|sarcoma of Langerhans cell|malignant Langerhans cell sarcoma|LCS											DOID:7146|ICD10:C96.4|NCIT:C6921|SCTID:724649000|ICDO:9756/3|UMLS:C1260327|MESH:D054752|EFO:0007336|Orphanet:86897|ONCOTREE:LCS|GARD:0010491														https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma				owl:Class
MONDO:0007429	biolink:NamedThing	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		mondoexuq1wtf	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|dominant optic atrophy plus syndrome|optic atrophy 1 and deafness											Orphanet:3212|UMLS:C3276549|GARD:0009897|OMIM:125250																		owl:Class
GO:0007623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014903	biolink:NamedThing	seizures, benign familial infantile, 5	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.	mondoexuq1wtf	BFIS5|convulsions, benign familial infantile, 5|seizures, benign familial infantile, 5|SCN8A benign familial infantile epilepsy|seizures, benign familial infantile, type 5|benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, 5; BFIS5											OMIM:617080|UMLS:C4310728																		owl:Class
UBERON:0002025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012431	biolink:NamedThing	diaphragmatic hernia 3	Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.	mondoexuq1wtf	congenital diaphragmatic hernia caused by mutation in ZFPM2|ZFPM2 congenital diaphragmatic hernia|diaphragmatic hernia 3|DIH3|diaphragmatic hernia type 3											MESH:C565710|OMIM:610187																		owl:Class
MONDO:0001004	biolink:NamedThing	slate pneumoconiosis	Pneumoconiosis caused by exposure to slate dust.	mondoexuq1wtf	Schistosis											ICD9:502|NCIT:C35397|SCTID:1259003|UMLS:C0340186|DOID:10330																		owl:Class
ENVO:01001286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024506	biolink:NamedThing	Adams-Oliver syndrome 1	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.	mondoexuq1wtf	AOS1|aplasia cutis congenita, congenital heart defect, and frontonasal cysts|absence defect of limbs, scalp, and skull|ARHGAP31 Adams-Oliver syndrome|aplasia cutis congenita with terminal transverse limb defects|Adams-Oliver syndrome caused by mutation in ARHGAP31|congenital scalp defects with distal limb reduction anomalies|Adams-Oliver syndrome 1|AOS											OMIM:100300|UMLS:CN028867																		owl:Class
HGNC:29216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26158	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013867	biolink:NamedThing	brown-Vialetto-van Laere syndrome 2	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.	mondoexuq1wtf	BROWN-Vialetto-VAN Laere syndrome 2|Brown-Vialetto-Van Laere syndrome type 2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2|SLC52A2 Brown-Vialetto-van Laere syndrome|BVVLS2|brown-Vialetto-van Laere syndrome 2											OMIM:614707|HGNC:30224|GARD:0012861|UMLS:C3553538														https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2				owl:Class
HGNC:30224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011474	biolink:NamedThing	progressive familial heart block type IB	Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.	mondoexuq1wtf	progressive familial heart block, type 1B|progressive familial heart block caused by mutation in TRPM4|TRPM4 progressive familial heart block|heart block progressive familial type 1B|progressive familial heart block type 1B|Pfhbib|progressive familial heart block, type IB|PFHB1B											DOID:0111076|GARD:0002610|SCTID:698250005|MESH:C567037|ICD9:426.6|OMIM:604559																		owl:Class
HGNC:17993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014998	biolink:NamedThing	glaucoma 3, primary congenital, E		mondoexuq1wtf	glaucoma 3, primary congenital, type E|GLC3E|glaucoma 3, primary congenital, E; GLC3E|glaucoma 3, primary congenital, E											OMIM:617272|UMLS:C4310639																		owl:Class
HGNC:11724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002405	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9382	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3680	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020783	biolink:NamedThing	capillary malformation-arteriovenous malformation 1		mondoexuq1wtf	Capillary Malformation-Arteriovenous Malformation|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|CMAVM1											OMIM:608354																		owl:Class
HGNC:9871	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013868	biolink:NamedThing	porokeratosis 7, disseminated superficial actinic type		mondoexuq1wtf	porokeratosis 7, disseminated superficial actinic type|porokeratosis 7, multiple types|POROK7											OMIM:614714																		owl:Class
HGNC:7529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007296	biolink:NamedThing	spinocerebellar ataxia type 31	Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.	mondoexuq1wtf	spinocerebellar ataxia type 31|spinocerebellar ataxia, 16Q22-linked|spinocerebellar ataxia 31|SCA31|spinocerebellar ataxia 16q22-linked											UMLS:C4274986|GARD:0009975|MESH:C566146|UMLS:C1861736|SCTID:715826005|DOID:0050980|ICD10:G11.8|OMIM:117210|Orphanet:217012																		owl:Class
HGNC:24160	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:51028	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100116	biolink:NamedThing	Middle East respiratory syndrome	A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.	mondoexuq1wtf	camel flu|MERS							http://orcid.org/0000-0001-5208-3432				Orphanet:576074|DOID:0080642|NCIT:C128424|UMLS:C3694279																		owl:Class
NCBITaxon:1335626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:32689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020666	biolink:NamedThing	Löfgren syndrome	A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.	mondoexuq1wtf	Löfgrens syndrome|Loefgrens syndrome											SCTID:238676008																		owl:Class
HP:0012219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013460	biolink:NamedThing	osteogenesis imperfecta type 12	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.	mondoexuq1wtf	osteogenesis imperfecta, type 12|SP7 osteogenesis imperfecta|OI12|osteogenesis imperfecta type XII|osteogenesis imperfecta, type XII|osteogenesis imperfecta caused by mutation in SP7|OI, type 12											ICD10:Q78.0|OMIM:613849|UMLS:C3151433|DOID:0110348																		owl:Class
HGNC:17321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:153136	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014466	biolink:NamedThing	Neu-Laxova syndrome 2	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.	mondoexuq1wtf	Neu-Laxova syndrome 2|NLS2|Neu-Laxova syndrome type 2|NEU-Laxova syndrome 2|PSAT1 Neu-Laxova syndrome|Neu-Laxova syndrome caused by mutation in PSAT1											UMLS:C4015019|DOID:0080075|OMIM:616038																		owl:Class
MONDO:0009430	biolink:NamedThing	hypophosphatemic rickets, autosomal recessive, 1	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.	mondoexuq1wtf	Arhr|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|DMP1 autosomal recessive hypophosphatemic rickets|ARHR1|hypophosphatemia, autosomal recessive|hypophosphatemic rickets, autosomal recessive, type 1|hypophosphatemic rickets, autosomal recessive, 1											UMLS:C0342643|OMIM:241520|MESH:C562792																		owl:Class
HGNC:2932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004543	biolink:NamedThing	enteric pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.	mondoexuq1wtf	testicular yolk Sac tumor, enteric pattern											NCIT:C39932|DOID:8362|UMLS:C1515304																		owl:Class
MONDO:0011689	biolink:NamedThing	dyslexia, susceptibility to, 6		mondoexuq1wtf	dyslexia, susceptibility to, 6|DYX6											OMIM:606616																		owl:Class
MONDO:0017349	biolink:NamedThing	myopericytoma	A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.	mondoexuq1wtf	MPC|solitary myofibroma|hemangiopericytoma											NCIT:C50401|Orphanet:289685|UMLS:C1302808|ICDO:8713/1|ONCOTREE:MPC																		owl:Class
MONDO:0007274	biolink:NamedThing	carpal displacement		mondoexuq1wtf	carpal displacement|carpal bossing											UMLS:C1861847|OMIM:115400																		owl:Class
MONDO:0007304	biolink:NamedThing	cervical vertebral Bridge		mondoexuq1wtf	cervical vertebral Bridge											OMIM:118000																		owl:Class
MONDO:0022603	biolink:NamedThing	brachydactyly tibial hypoplasia		mondoexuq1wtf												GARD:0000977														https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia				owl:Class
MONDO:0004530	biolink:NamedThing	early invasive cervical adenocarcinoma	A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.	mondoexuq1wtf	cervical microinvasive adenocarcinoma											NCIT:C36096|DOID:8307|UMLS:C1333369																		owl:Class
MONDO:0020473	biolink:NamedThing	dappled diaphyseal dysplasia		mondoexuq1wtf												Orphanet:99645|UMLS:C1300227|ICD10:Q77.3|SCTID:389262009|ICD9:756.59																		owl:Class
MONDO:0003302	biolink:NamedThing	epithelioid neurofibroma	A rare neurofibroma with epithelioid morphology.	mondoexuq1wtf	epithelioid neurofibroma											DOID:5149|NCIT:C6558|SCTID:404032008|ICD9:215.9|UMLS:C1275264																		owl:Class
MONDO:0008548	biolink:NamedThing	theophylline Biotransformation		mondoexuq1wtf	theophylline Biotransformation											OMIM:187650|UMLS:C1861211																		owl:Class
MONDO:0011179	biolink:NamedThing	leishmaniasis, tegumentary, susceptibility to		mondoexuq1wtf	leishmaniasis, tegumentary, susceptibility to											OMIM:602068																		owl:Class
MONDO:0014928	biolink:NamedThing	Joubert syndrome 28	Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.	mondoexuq1wtf	Joubert syndrome caused by mutation in MKS1|Joubert syndrome type 28|MKS1 Joubert syndrome|JBTS28|Joubert syndrome 28											DOID:0110997|OMIM:617121|UMLS:C4310705																		owl:Class
MONDO:0032580	biolink:NamedThing	nephrotic syndrome, type 17		mondoexuq1wtf	NPHS17|NEPHROTIC SYNDROME, TYPE 17											DOID:0080392|OMIM:618176																		owl:Class
MONDO:0033116	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 26		mondoexuq1wtf	SCAR26|autosomal recessive spinocerebellar ataxia 26|spinocerebellar ataxia, autosomal recessive 26											OMIM:617633|DOID:0080260|UMLS:CN417133																		owl:Class
MONDO:0013329	biolink:NamedThing	familial clubfoot due to 17q23.1q23.2 microduplication	17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.	mondoexuq1wtf	chromosome 17q23.1-q23.2 DUPLICATION syndrome|hereditary clubfoot due to 17q23.1-q23.2 microduplication											UMLS:C3150880|Orphanet:238578|ICD10:Q66.8|OMIM:613618																		owl:Class
MONDO:0018625	biolink:NamedThing	classic stiff person syndrome		mondoexuq1wtf	classic SPS											Orphanet:443192|ICD10:G25.8|UMLS:CN237666																		owl:Class
MONDO:0016480	biolink:NamedThing	silver-Russell syndrome due to an imprinting defect of 11p15		mondoexuq1wtf	Silver-Russell syndrome due to an imprinting defect of type 11p15											ICD10:Q87.1|Orphanet:231140|UMLS:CN201475																		owl:Class
MONDO:0006886	biolink:NamedThing	thyroid gland papillary and follicular carcinoma	A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)	mondoexuq1wtf	thyroid gland papillary and follicular carcinoma|papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|papillary and follicular carcinoma											NCIT:C7380|DOID:3968|EFO:1001083|UMLS:C0206683|MESH:D018265																		owl:Class
MONDO:0000782	biolink:NamedThing	Indian plum allergy	A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.	mondoexuq1wtf	Ziziphus mauritiana fruit allergy											DOID:0060507																		owl:Class
MONDO:0022400	biolink:NamedThing	retinal ciliopathy due to mutation in the rpgrip gene		mondoexuq1wtf												Orphanet:156174																		owl:Class
MONDO:0005684	biolink:NamedThing	bulbar polio	A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)	mondoexuq1wtf	medullary involvement poliomyelitis|poliomyelitis, medullary involvement|bulbar polio|bulbar poliomyelitis|polio, bulbar											MESH:D011052|ICD9:045.0|EFO:0007186|UMLS:C0032372|DOID:9786																		owl:Class
MONDO:0013967	biolink:NamedThing	peroxisome biogenesis disorder 14B		mondoexuq1wtf	PEX14B|peroxisome biogenesis disorder 14B|peroxisome biogenesis disorder type 14B|PEX11B peroxisome biogenesis disorder											UMLS:C3554055|OMIM:614920														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0018929	biolink:NamedThing	medial condensing osteitis of the clavicle		mondoexuq1wtf	condensing osteitis of the medial clavicle|condensing osteitis of the clavicle|osteitis condensans of the clavicle											GARD:0010910|ICD10:M85.3|UMLS:CN230280|Orphanet:57196																		owl:Class
MONDO:0011775	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 1	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.	mondoexuq1wtf	nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 1|nasopharyngeal cancer|nasopharyngeal carcinoma caused by mutation in TP53|NPC|Npca|TP53 nasopharyngeal carcinoma											UMLS:C1846758|OMIM:607107																		owl:Class
MONDO:0018615	biolink:NamedThing	hemicrania continua	Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.	mondoexuq1wtf												SCTID:443095000|ICD10:G44.51|GARD:0010795|UMLS:C2349425|COHD:40480082|UMLS:CN237652|Orphanet:443070|ICD10:G44.0|ICD9:339.41														https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua				owl:Class
MONDO:0019333	biolink:NamedThing	autosomal recessive hyperinsulinism due to SUR1 deficiency		mondoexuq1wtf	autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency											ICD10:E16.1|UMLS:CN206002|Orphanet:79643																		owl:Class
MONDO:0007331	biolink:NamedThing	cleft chin		mondoexuq1wtf	Chin dimple|cleft chin					May be obsoleted. See https://github.com/monarch-initiative/hpo-annotation-data/pull/234						OMIM:119000																		owl:Class
MONDO:0044304	biolink:NamedThing	hyperphenylalaninemia due to DNAJC12 deficiency	Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).	mondoexuq1wtf	hyperphenylalaninemia, mild, non-BH4-deficient|HPANBH4											OMIM:617384|Orphanet:508523|UMLS:C4479270																		owl:Class
MONDO:0017816	biolink:NamedThing	primary systemic amyloidosis	Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.	mondoexuq1wtf	systemic AL amyloidosis|systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis											SCTID:89449005|ICD10:E85.0|ICD10:E85.1|Orphanet:314701|UMLS:C0281479|UMLS:C0268380|NCIT:C8299|ICD10:E85.3|ICD10:E85.2																		owl:Class
MONDO:0008983	biolink:NamedThing	chromosomal instability with tissue-specific radiosensitivity		mondoexuq1wtf	chromosomal instability with tissue-specific radiosensitivity											MESH:C565848|OMIM:215510																		owl:Class
MONDO:0002306	biolink:NamedThing	angular blepharoconjunctivitis	A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.	mondoexuq1wtf												SCTID:69397000|UMLS:C0155149|COHD:375283|DOID:2455|ICD10:H10.52|ICD9:372.21																		owl:Class
MONDO:0003978	biolink:NamedThing	colon small cell neuroendocrine carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.	mondoexuq1wtf	Oat cell carcinoma of the colon|colon small cell neuroendocrine cancer|colon small cell carcinoma|small cell carcinoma of colon|colonic small cell carcinoma|colon Oat cell carcinoma|colon small cell neuroendocrine carcinoma|colonic Oat cell carcinoma|small cell carcinoma of the colon|Oat cell carcinoma of colon|small cell colon carcinoma|Oat cell colon carcinoma											UMLS:C1333099|NCIT:C6761|DOID:6727																		owl:Class
MONDO:0600001	biolink:NamedThing	glutaminase deficiency	Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.	mondoexuq1wtf								http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0003487	biolink:NamedThing	pseudoglandular squamous cell carcinoma	A squamous cell carcinoma characterized by the formation of gland-like structures.	mondoexuq1wtf	acantholytic squamous cell carcinoma|pseudoglandular epidermoid cell carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular squamous cell carcinoma|adenocarcinoma with squamous metaplasia|pseudoglandular epidermoid carcinoma|pharyngeal tonsil squamous cell carcinoma|adenoacanthoma|pseudoglandular squamous carcinoma|adenoid squamous carcinoma|adenoid squamous cell carcinoma											DOID:5524|UMLS:C0334393|ICDO:8075/3|SCTID:403901001|UMLS:C0334250|NCIT:C4106																		owl:Class
MONDO:0032794	biolink:NamedThing	leber congenital amaurosis 19		mondoexuq1wtf	LCA19|LEBER CONGENITAL AMAUROSIS 19											OMIM:618513																		owl:Class
MONDO:0003308	biolink:NamedThing	pleural mesothelioma	A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.	mondoexuq1wtf	mesothelioma of pleura|mesothelioma of the pleura|benign pleural mesothelioma|pleura mesothelioma|pleural mesothelioma|pleural mesothelioma (disease), benign|pleural mesothelioma (disease)											ONCOTREE:PLMESO|EFO:1000485|NCIT:C9351|SCTID:109372009|DOID:5157|HP:0100002																		owl:Class
MONDO:0023069	biolink:NamedThing	enlarged vestibular aqueduct syndrome		mondoexuq1wtf	enlarged vestibular aqueduct|large vestibular aqueduct syndrome											DOID:0050332|GARD:0008651														https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome				owl:Class
MONDO:0025381	biolink:NamedThing	avian leukosis	A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.	mondoexuq1wtf	Avian Leukoses|leukosis, Avian|leukoses, Avian											UMLS:C0004421|MESH:D001353																		owl:Class
MONDO:0001801	biolink:NamedThing	staphyloma posticum		mondoexuq1wtf												SCTID:87819007|COHD:438767|DOID:13789|UMLS:C0155360|ICD9:379.12|ICD10:H15.83																		owl:Class
MONDO:0011829	biolink:NamedThing	coenzyme Q10 deficiency, primary, 1	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.	mondoexuq1wtf	coenzyme Q10 deficiency, primary, 1|CoQ deficiency 1|COQ2 coenzyme Q10 deficiency|coenzyme Q deficiency 1|coenzyme Q10 deficiency caused by mutation in COQ2|coenzyme Q10 deficiency, primary, type 1|COQ10D1|ubiquinone deficiency 1|Coq10 deficiency, primary, 1											OMIM:607426|DOID:0070238|UMLS:C3551954																		owl:Class
MONDO:0023419	biolink:NamedThing	hyperprolinemia	Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.	mondoexuq1wtf	proline oxidase deficiency|hyperprolinemia type 1|proline hydrogenase deficiency											DOID:0080541|GARD:0002847|ICD9:270.8|SCTID:59655002|UMLS:C0268528														https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia				owl:Class
MONDO:0013893	biolink:NamedThing	multiple sclerosis, susceptibility to, 5	Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.	mondoexuq1wtf	multiple sclerosis, susceptibility to, type 5|MS5|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to, 5|multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|susceptibility to multiple sclerosis 5											OMIM:614810																		owl:Class
MONDO:0002153	biolink:NamedThing	telogen effluvium	A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.	mondoexuq1wtf												ICD10:L65.0|NCIT:C112200|ICD9:704.02|COHD:140173|DOID:1943|SCTID:39479004|UMLS:C0263518																		owl:Class
MONDO:0019203	biolink:NamedThing	acute interstitial pneumonia	Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.	mondoexuq1wtf	AIP|idiopathic pulmonary fibrosis, acute fatal form|Hamman-rich disease|Hamman-rich syndrome|accelerated interstitial pneumonia|acute interstitial pneumonitis											NCIT:C35806|Orphanet:79126|MedDRA:10066728|GARD:0012835|DOID:2800|ICD9:516.33|ICD10:J84.1|UMLS:C1279945|ICD10:J84.114|COHD:4341520|SCTID:236302005																		owl:Class
MONDO:0022620	biolink:NamedThing	CD4 deficiency		mondoexuq1wtf												GARD:0009523														https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency				owl:Class
MONDO:0016038	biolink:NamedThing	calcified aponeurotic fibroma	A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.	mondoexuq1wtf	calcifying aponeurotic fibroma|juvenile aponeurotic fibromatosis|Juvenile aponeurotic fibrosis|Keasby tumor|Juvenile aponeurotic fibroma											Orphanet:199260|NCIT:C4818|ICD10:M72.8|UMLS:C0553647|SCTID:703614006																		owl:Class
MONDO:0003640	biolink:NamedThing	verruciform xanthoma of skin	A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.	mondoexuq1wtf	verruciform xanthoma (morphologic abnormality)|cutaneous verruciform xanthoma|verruciform xanthoma|verruciform xanthoma of the skin|skin verruciform xanthoma											UMLS:C0346054|ICD9:215.9|SCTID:254756007|NCIT:C4478|DOID:5769																		owl:Class
MONDO:0010356	biolink:NamedThing	nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.	mondoexuq1wtf	nephrogenic syndrome of inappropriate antidiuresis|NSIAD											ICD10:E22.2|MESH:C564491|OMIM:300539|SCTID:723440000|Orphanet:93606|UMLS:C1845202																		owl:Class
MONDO:0016885	biolink:NamedThing	partial deletion of the short arm of chromosome 3		mondoexuq1wtf	partial monosomy of the short arm of chromosome 3|partial deletion of chromosome 3p|partial monosomy of chromosome 3p|partial deletion of the short arm of chromosome type 3											ICD10:Q93.5|Orphanet:261875																		owl:Class
MONDO:0005613	biolink:NamedThing	mesonephric adenocarcinoma	An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.	mondoexuq1wtf	malignant Mesonephroma											EFO:0006719|NCIT:C4072|ICDO:9110/3																		owl:Class
MONDO:0004491	biolink:NamedThing	uterine corpus choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	mondoexuq1wtf	choriocarcinoma|gestational uterine corpus choriocarcinoma|body of uterus choriocarcinoma (disease)|uterine corpus gestational choriocarcinoma											DOID:8188|UMLS:C1336904|NCIT:C27246|ONCOTREE:UCCA																		owl:Class
MONDO:0001132	biolink:NamedThing	sexual sadism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.	mondoexuq1wtf	sexual sadism											ICD10:F65.52|ICD9:302.84|NCIT:C94358|DOID:10817|MESH:D012448|SCTID:59394009																		owl:Class
MONDO:0002923	biolink:NamedThing	uterine corpus endometrial stromal sarcoma	A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.	mondoexuq1wtf	uterine corpus ess|body of uterus endometrial stromal sarcoma|body of uterus endometrioid stromal sarcoma|uterine corpus endometrial stromal sarcoma|endometrioid stromal sarcoma of body of uterus|uterine corpus endometrial stromal tumor											DOID:4227|NCIT:C40219|UMLS:C1519849																		owl:Class
MONDO:0001747	biolink:NamedThing	tibial collateral ligament bursitis		mondoexuq1wtf												DOID:13566|UMLS:C0158315|SCTID:44245003|ICD9:726.62|COHD:435626																		owl:Class
MONDO:0022831	biolink:NamedThing	congenital heart disease ptosis hypodontia craniostosis		mondoexuq1wtf												GARD:0001483														https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis				owl:Class
MONDO:0012039	biolink:NamedThing	myocardial infarction, susceptibility to		mondoexuq1wtf	myocardial infarction, susceptibility to|susceptibility to myocardial infarction|myocardial infarction, protection against|myocardial infarction, susceptibility to, 1											OMIM:608446																		owl:Class
MONDO:0003776	biolink:NamedThing	renal pelvis inverted papilloma	A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.	mondoexuq1wtf	inverted papilloma of kidney pelvis|inverted papilloma of the kidney pelvis|kidney pelvis inverted papilloma|renal pelvis inverted papilloma|inverted papilloma of the renal pelvis|inverted papilloma of renal pelvis											NCIT:C6187|DOID:6118|UMLS:C1335751																		owl:Class
MONDO:0003704	biolink:NamedThing	uterine corpus diffuse leiomyomatosis	An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.	mondoexuq1wtf	uterine corpus leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus diffuse leiomyomatosis|body of uterus leiomyomatosis											DOID:5916|UMLS:C1519855|NCIT:C40170|DOID:5917																		owl:Class
MONDO:0013108	biolink:NamedThing	leukemia, acute lymphocytic, susceptibility to, 1		mondoexuq1wtf	leukemia, acute lymphoblastic|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, B-cell acute lymphoblastic, susceptibility to|All1|ALL|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, T-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to											OMIM:613065|UMLS:C2751595																		owl:Class
MONDO:0033549	biolink:NamedThing	optic atrophy 12		mondoexuq1wtf	OPA12|OPTIC ATROPHY 12											OMIM:618977																		owl:Class
MONDO:0017003	biolink:NamedThing	partial deletion of chromosome X		mondoexuq1wtf	partial monosomy of chromosome X|partial deletion of chromosome type X											ICD10:Q99.8|Orphanet:263726																		owl:Class
MONDO:0004252	biolink:NamedThing	small intestinal L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	mondoexuq1wtf	small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine|small intestinal L-cell glucagon-like peptide-producing NET											NCIT:C27452|DOID:7506|UMLS:C3274143																		owl:Class
MONDO:0008901	biolink:NamedThing	Tel Hashomer camptodactyly syndrome	Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	mondoexuq1wtf	camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases|Tel Hashomer camptodactyly syndrome											GARD:0005128|UMLS:C1859356|ICD10:Q74.0|MESH:C536953|Orphanet:3292|SCTID:719946008|OMIM:211960														https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome				owl:Class
MONDO:0032656	biolink:NamedThing	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum		mondoexuq1wtf	MCIDDS|MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM											OMIM:618284																		owl:Class
MONDO:0001080	biolink:NamedThing	acute gonococcal cervicitis	Acute form of gonococcal cervicitis.	mondoexuq1wtf	gonococcal cervicitis (acute)|gonococcal cervicitis, acute|acute gonorrhea of cervix											ICD9:098.15|SCTID:20943002|DOID:10615|COHD:193136|UMLS:C0153195																		owl:Class
MONDO:0004726	biolink:NamedThing	liver inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	mondoexuq1wtf	hepatic inflammatory myofibroblastic tumor|liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of liver|liver inflammatory pseudotumor|inflammatory pseudotumor of the liver											DOID:918|UMLS:C1333967|SCTID:717329009|NCIT:C5858|EFO:1000324																		owl:Class
MONDO:0022891	biolink:NamedThing	craniosynostosis Maroteaux Fonfria type		mondoexuq1wtf												GARD:0001598														https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type				owl:Class
MONDO:0010273	biolink:NamedThing	lymphoma, Hodgkin, X-linked pseudoautosomal		mondoexuq1wtf	lymphoma, Hodgkin, X-linked pseudoautosomal|Hodgkin disease, X-linked Pseudoautosomal											OMIM:300221|MESH:C538326|GARD:0009899																		owl:Class
MONDO:0024562	biolink:NamedThing	sick sinus syndrome 1	Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.	mondoexuq1wtf	SSS1|sinus node disease, familial, autosomal recessive|sick sinus syndrome 1|sick sinus syndrome caused by mutation in SCN5A|sinus rhythm, congenital absence of|sinus bradycardia syndrome, familial|SCN5A sick sinus syndrome|sick sinus syndrome, congenital											OMIM:608567																		owl:Class
MONDO:0007151	biolink:NamedThing	arms, malformation of		mondoexuq1wtf	arms, malformation of											MESH:C566258|OMIM:107900																		owl:Class
MONDO:0008080	biolink:NamedThing	neurofibromatosis, type III, mixed central and peripheral		mondoexuq1wtf	neurofibromatosis, type III, of Riccardi|neurofibromatosis, type III, Riccardi type|neurofibromas, palmar cutaneous|Nf 3|neurofibromatosis, type III, mixed central and peripheral|NF3A											SCTID:254240003|MESH:C537389|OMIM:162260																		owl:Class
MONDO:0001623	biolink:NamedThing	cicatricial lagophthalmos		mondoexuq1wtf	cicatricial lagophthalmos|cicatricial lagophthalmos (disease)		cicatricial lagophthalmos (disease)									ICD9:374.23|HP:0030004|COHD:442113|DOID:13038|UMLS:C0155199|ICD10:H02.21																		owl:Class
MONDO:0010022	biolink:NamedThing	senile plaque formation		mondoexuq1wtf	senile plaque formation											OMIM:269800																		owl:Class
MONDO:0013073	biolink:NamedThing	palmoplantar keratoderma, nonepidermolytic, focal 1	Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.	mondoexuq1wtf	keratoderma, focal nonepidermolytic palmoplantar|Ppkfne|palmoplantar keratoderma, nonepidermolytic, focal type 1|FNEPPK1|focal nonepidermolytic palmoplantar keratoderma|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16|KRT16 nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal 1											DOID:0111709|OMIM:613000																		owl:Class
MONDO:0016932	biolink:NamedThing	partial duplication of chromosome 11		mondoexuq1wtf	partial trisomy of chromosome 11|partial duplication of chromosome type 11											SCTID:726350006|Orphanet:262653																		owl:Class
MONDO:0003705	biolink:NamedThing	adult brainstem mixed glioma		mondoexuq1wtf	adult brainstem mixed glioma|adult brain stem mixed glioma											NCIT:C9371|UMLS:C1377915|DOID:5921																		owl:Class
MONDO:0003433	biolink:NamedThing	water-clear cell adenoma	A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.	mondoexuq1wtf	water-clear cell adenoma (morphologic abnormality)|parathyroid gland water-clear cell adenoma											DOID:5401|NCIT:C4155|UMLS:C0334321|ICDO:8322/0																		owl:Class
MONDO:0006673	biolink:NamedThing	pituitary gland basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.	mondoexuq1wtf	pituitary gland basophilic adenoma|pituitary basophilic adenoma|basophil adenoma|mucoid cell adenoma|basophilic adenoma|basophilic pituitary gland adenoma											NCIT:C2856|ICDO:8300/0|DOID:4542|UMLS:C0001431|MESH:D000237|EFO:1000834																		owl:Class
MONDO:0006654	biolink:NamedThing	anthracosis	A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.	mondoexuq1wtf	melanoedema|black lung|pneumoconiosis from coal dust|coal workers' lung|coal miner's pneumoconiosis|coal workers' pneumoconiosis|coal dust pneumoconiosis											ICD10:J60|NCIT:C34390|EFO:1000814|DOID:10327|COHD:252946|MESH:D055008|MedDRA:10073051|SCTID:29422001|UMLS:C0003165|ICD9:500																		owl:Class
MONDO:0019405	biolink:NamedThing	facial onset sensory and motor neuronopathy	Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.	mondoexuq1wtf	FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome|facial onset sensory and motor neuronopathy syndrome											SCTID:723306004|ICD10:G60.0|Orphanet:85162|GARD:0012036|UMLS:CN206118														https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy				owl:Class
MONDO:0016150	biolink:NamedThing	qualitative or quantitative defects of integrin alpha-7		mondoexuq1wtf	Integrinopathy											Orphanet:207098																		owl:Class
MONDO:0002191	biolink:NamedThing	syringoma	A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.	mondoexuq1wtf	eccrine syringoma|syringoma											UMLS:C0206673|GARD:0010547|DOID:2065|SCTID:302828001|ICDO:8407/0|MESH:D018252|NCIT:C3761																		owl:Class
MONDO:0008384	biolink:NamedThing	rheumatoid nodulosis	A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.	mondoexuq1wtf	accelerated rheumatoid nodulosis|rheumatoid nodulosis											MESH:D012218|GARD:0009625|SCTID:402427003|OMIM:180350|UMLS:C1304215|SCTID:402426007														https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis				owl:Class
MONDO:0002960	biolink:NamedThing	polyradiculopathy	A radiculopathy that is present in more than one nerve.	mondoexuq1wtf												SCTID:75572007|MESH:D011128|DOID:4307|ICD9:356.9|UMLS:C0032586|NCIT:C34934																		owl:Class
MONDO:0011004	biolink:NamedThing	lissencephaly type 3-metacarpal bone dysplasia syndrome	This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.	mondoexuq1wtf	lissencephaly type III and bone dysplasia|lissencephaly type 3 and bone dysplasia											SCTID:718720007|Orphanet:86822|MESH:C563383|OMIM:601160|ICD10:Q04.3|UMLS:C1832678																		owl:Class
MONDO:0007891	biolink:NamedThing	familial generalized lentiginosis	Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	mondoexuq1wtf	lentiginosis, inherited patterned|familial lentigines profusa|lentiginosis profusa|familial multiple lentigines syndrome without systemic involvement|lentiginosis, diffuse|lentiginosis, generalized											ICD10:L81.4|Orphanet:231040|SCTID:765195000|UMLS:C3492944|UMLS:CN201466|MESH:C573023|OMIM:151001																		owl:Class
MONDO:0032654	biolink:NamedThing	hyper-IgE recurrent infection syndrome 3, autosomal recessive		mondoexuq1wtf	HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE|HIES3											OMIM:618282|DOID:0080595																		owl:Class
MONDO:0019537	biolink:NamedThing	hemoglobin D disease	Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).	mondoexuq1wtf	Hb-D disease|hemoglobin D disease											MedDRA:10055019|ICD10:D58.2|ICD9:282.7|DOID:5378|Orphanet:90039|NCIT:C35344|SCTID:66729008|UMLS:C0272080																		owl:Class
MONDO:0019874	biolink:NamedThing	distal trisomy 7p	Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	mondoexuq1wtf	telomeric duplication 7p|trisomy 7pter|distal duplication 7p|distal trisomy type 7p											ICD10:Q92.3|SCTID:763276000|Orphanet:96074																		owl:Class
MONDO:0021313	biolink:NamedThing	eyelid cancer	A cancer that involves the eyelid.	mondoexuq1wtf	malignant neoplasm of eyelid|malignant tumor of the eyelid|malignant eyelid neoplasm|malignant tumor of eyelid|malignant neoplasm of the eyelid|eyelid cancer|cancer of eyelid|malignant eyelid tumor											SCTID:231829006|ICD9:173.1|NCIT:C6786																		owl:Class
MONDO:0007797	biolink:NamedThing	hypoparathyroidism-deafness-renal disease syndrome	The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.	mondoexuq1wtf	nephrosis, nerve deafness, and hypoparathyroidism|hypoparathyroidism, deafness, and renal anomalies syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|HDR syndrome|Barakat syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia|hypoparathyroidism, sensorineural deafness, and renal disease|HDR											DOID:0060878|ICD10:Q87.8|UMLS:C1840333|OMIM:146255|NCIT:C130983|Orphanet:2237|MESH:C537907|GARD:0002911|SCTID:724282009																		owl:Class
MONDO:0023000	biolink:NamedThing	dobrow syndrome		mondoexuq1wtf												GARD:0001895														https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome				owl:Class
MONDO:0011534	biolink:NamedThing	Charcot-Marie-Tooth disease type 4G	Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.	mondoexuq1wtf	hereditary motor and sensory neuropathy, Russe type|HMSNR|Charcot-Marie-Tooth neuropathy, type 4G|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|autosomal recessive Charcot-Marie-Tooth disease type 4G|Charcot-Marie-Tooth disease, type 4G|hereditary motor and sensory neuropathy Russe type|Charcot-Marie-Tooth neuropathy type 4G|neuropathy, hereditary motor and sensory, Russe type|CMT4G|HK1 Charcot-Marie-Tooth disease type 4											GARD:0010132|SCTID:715799004|UMLS:C1854449|OMIM:605285|ICD10:G60.0|DOID:0110196|Orphanet:99953|MESH:C535813																		owl:Class
MONDO:0012500	biolink:NamedThing	chilblain lupus 1	Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.	mondoexuq1wtf	chilblain lupus 1|chilblain lupus type 1|chilblain lupus caused by mutation in TREX1|CHBL1|TREX1 chilblain lupus											OMIM:610448																		owl:Class
MONDO:0014064	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 3	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.	mondoexuq1wtf	MC3DN3|mitochondrial complex III deficiency, nuclear type 3|mitochondrial Complex 3 deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|UQCRB mitochondrial complex III deficiency											DOID:0080112|OMIM:615158|UMLS:C3554606																		owl:Class
MONDO:0013068	biolink:NamedThing	age-related hearing impairment 2		mondoexuq1wtf	ARHI2|age-related hearing impairment 2|presbycusis 2											MESH:C567834|UMLS:C2751814|OMIM:612976																		owl:Class
MONDO:0010905	biolink:NamedThing	cone-rod dystrophy 1		mondoexuq1wtf	CRD1|Crd1|cone-rod dystrophy 1|cone-rod dystrophy type 1|CORD1											OMIM:600624|UMLS:C1833564|DOID:0111009|MESH:C563469|GARD:0010651														https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1				owl:Class
MONDO:0013294	biolink:NamedThing	atopic dermatitis 8	An atopic dermatitis associated with variation in the region 4q22.1.	mondoexuq1wtf	dermatitis, Atopic, severity of|atopic dermatitis type 8|ATOD8|dermatitis, ATOPIC, 8											DOID:0110104|OMIM:613518|UMLS:C3150763																		owl:Class
MONDO:0001904	biolink:NamedThing	polyneuropathy due to drug		mondoexuq1wtf												ICD9:357.6|ICD10:G62.0|COHD:381551|DOID:14184|SCTID:7339009|UMLS:C0154762																		owl:Class
CL:0000789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023240	biolink:NamedThing	gigantism advanced bone age hoarse cry		mondoexuq1wtf												GARD:0002471														https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry				owl:Class
MONDO:0004091	biolink:NamedThing	skin basaloid carcinoma	A basaloid squamous cell carcinoma that involves the zone of skin.	mondoexuq1wtf	skin basaloid squamous cell carcinoma|skin basaloid carcinoma|basaloid skin squamous cell carcinoma|basaloid squamous cell skin carcinoma|zone of skin basaloid squamous cell carcinoma											NCIT:C27543|UMLS:C1335973|DOID:7049																		owl:Class
MONDO:0030899	biolink:NamedThing	oculocutaneous albinism type 8		mondoexuq1wtf	oculocutaneous albinism, type 8|OCA8											Orphanet:597733|OMIM:619165																		owl:Class
MONDO:0014109	biolink:NamedThing	NGLY1-deficiency	A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.	mondoexuq1wtf	CDG IV, formerly|deficiency of N-glycanase 1|NGLY1-CDDG|NGLY1 deficiency|CDG IV|congenital disorder of deglycosylation;CDDG|congenital disorder of glycosylation, type IV, formerly|alacrimia - choreoathetosis - liver dysfunction syndrome|congenital disorder of deglycosylation|congenital disorder of glycosylation type IV; CDG1V|congenital disorder of glycosylation, type IV|congenital disorder of glycosylation type IV|CDDG											ICD10:E77.8|NCIT:C126746|OMIM:615273|GARD:0012315|UMLS:C3808991|Orphanet:404454|DOID:0060728|SCTID:768846004																		owl:Class
MONDO:0007261	biolink:NamedThing	Carabelli anomaly of maxillary molar teeth		mondoexuq1wtf	Carabelli anomaly of maxillary molar teeth											OMIM:114700|UMLS:C1861897|MESH:C566175																		owl:Class
MONDO:0022574	biolink:NamedThing	biliary atresia intrahepatic syndromic form		mondoexuq1wtf												GARD:0000888														https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form				owl:Class
MONDO:0020723	biolink:NamedThing	vitamin D-dependent rickets, type 1A		mondoexuq1wtf	vitamin D hydroxylation-deficient rickets, type 1A|vitamin D dependency, type 1|25-hydroxycholecalciferol-1-Hydroxylase deficiency|1-Alpha-Hydroxylase deficiency|pseudovitamin D-deficiency rickets, type 1A|1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|PDDR 1A|vitamin D-dependent rickets, type 1A|VDDR1A											UMLS:C0268689|OMIM:264700																		owl:Class
MONDO:0019983	biolink:NamedThing	multiloculated renal cyst		mondoexuq1wtf	multilocular renal cyst|multilocular cyst of the kidney											Orphanet:97366|SCTID:86463003																		owl:Class
MONDO:0004696	biolink:NamedThing	larynx carcinoma in situ	A in situ carcinoma that involves the larynx.	mondoexuq1wtf	laryngeal carcinoma in situ|stage 0 laryngeal cancer aJCC v7|carcinoma in situ of the larynx|stage 0 larynx carcinoma|stage 0 laryngeal carcinoma|stage 0 carcinoma of the larynx|carcinoma in situ of larynx|stage 0 laryngeal carcinoma in situ|stage 0 laryngeal cancer|laryngeal cancer stage 0|larynx in situ carcinoma|larynx carcinoma in situ|stage 0 laryngeal throat cancer|stage 0 carcinoma of larynx|stage 0 laryngeal cancer aJCC v6|stage 0 laryngeal cancer aJCC v8|laryngeal carcinoma stage 0|stage 0 laryngeal cancer aJCC v6, v7, and V8											SCTID:92634009|NCIT:C9100|DOID:9011|ICD10:D02.0|UMLS:C0154069|COHD:24897|ICD9:231.0																		owl:Class
MONDO:0006355	biolink:NamedThing	parotid gland acinic cell carcinoma	An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.	mondoexuq1wtf	acinic cell carcinoma of parotid gland|acinic cell carcinoma of parotid|acinic cell carcinoma of the parotid gland|parotid gland acinar cell carcinoma|parotid gland acinic cell carcinoma|acinic cell carcinoma of the parotid|parotid acinic cell carcinoma											UMLS:C1335353|EFO:1000458|NCIT:C5933																		owl:Class
MONDO:0011511	biolink:NamedThing	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia		mondoexuq1wtf	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia|Chzam											OMIM:605040|UMLS:C1857942|MESH:C565729																		owl:Class
MONDO:0001821	biolink:NamedThing	hypoactive sexual desire disorder	A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.	mondoexuq1wtf	lack or loss of sexual desire											ICD9:302.71|NCIT:C94337|DOID:13868|ICD10:F52.0|COHD:443262|SCTID:270903007																		owl:Class
MONDO:0030063	biolink:NamedThing	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities|NEDSHBA											OMIM:618922																		owl:Class
MONDO:0043079	biolink:NamedThing	acute articular rheumatism		mondoexuq1wtf	acute rheumatic arthritis|acute rheumatism|acute articular rheumatism											GARD:0000518|SCTID:81077008																		owl:Class
MONDO:0024504	biolink:NamedThing	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.	mondoexuq1wtf	carcinoid tumor of pancreas|EC cell, serotonin producing pancreatic NET|serotonin-producing neuroendocrine tumor of pancreas|serotonin-producing tumor of pancreas|pancreatic serotonin producing neoplasm|pancreatic serotonin producing tumor|carcinoid neoplasm of pancreas|serotonin-producing pancreatic neuroendocrine tumor|serotonin-producing PNET|pancreatic carcinoid tumor|carcinoid neoplasm of the pancreas|serotonin-producing pancreatic NET|EC cell, serotonin producing pancreatic neuroendocrine tumor|enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing tumor of the pancreas											Orphanet:506090|NCIT:C4446																		owl:Class
MONDO:0004028	biolink:NamedThing	small intestinal fibrosarcoma	A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	fibrosarcoma of the small intestine|small intestine fibrosarcoma|fibrosarcoma of small intestine|fibrosarcoma of the small bowel|small bowel fibrosarcoma|small intestine fibrosarcoma (disease)|fibrosarcoma, small intestine|fibrosarcoma of small bowel|small intestinal fibrosarcoma											NCIT:C5336|UMLS:C1335994|DOID:6880																		owl:Class
MONDO:0009481	biolink:NamedThing	Jumping Frenchmen of Maine		mondoexuq1wtf	exaggerated startle reflex|Jumping Frenchmen of Maine|'jumpers' of Maine											OMIM:244100|GARD:0006803																		owl:Class
MONDO:0011021	biolink:NamedThing	neuronal intestinal dysplasia, type B		mondoexuq1wtf	neuronal intestinal dysplasia, type B|nid B											UMLS:C1832589|OMIM:601223																		owl:Class
MONDO:0011281	biolink:NamedThing	congenital myasthenic syndrome 5	Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	myasthenic syndrome, congenital, Engel type|Cms Ic|CMS Ic|myasthenic syndrome, congenital, 5|congenital myasthenic syndrome Engel type|congenital myasthenic syndrome caused by mutation in COLQ|congenital myasthenic syndrome type Ic, formerly|myasthenic syndrome, congenital, type 5|congenital myasthenic syndrome type Ic|end plate acetylcholinesterase deficiency|congenital myasthenic syndrome type 5|EAD|Cms Ic, formerly|CMS5|Engel congenital myasthenic syndrome|endplate acetylcholinesterase deficiency|COLQ congenital myasthenic syndrome											OMIM:603034|MESH:C566415|UMLS:C1864233|DOID:0110667|NCIT:C129304																		owl:Class
MONDO:0020346	biolink:NamedThing	synaptic congenital myasthenic syndrome		mondoexuq1wtf	synaptic congenital myasthenic syndromes											ICD10:G70.2|Orphanet:98915																		owl:Class
MONDO:0035354	biolink:NamedThing	IgG4-related systemic disease		mondoexuq1wtf	IgG4-related disease|IgG4-RD											Orphanet:596448														https://github.com/monarch-initiative/mondo/issues/3539				owl:Class
MONDO:0017698	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form		mondoexuq1wtf	glycogen storage disease type 4, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|GSDIV, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form											UMLS:C1856304|Orphanet:308670|ICD10:E74.0																		owl:Class
MONDO:0006302	biolink:NamedThing	micropapillary serous carcinoma	An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.	mondoexuq1wtf												NCIT:C6882|EFO:1000377																		owl:Class
MONDO:0012798	biolink:NamedThing	deafness, unilateral, with delayed endolymphatic hydrops		mondoexuq1wtf	deafness, unilateral, with delayed endolymphatic hydrops											UMLS:C2677512|MESH:C567420|OMIM:612097																		owl:Class
MONDO:0019327	biolink:NamedThing	phakomatosis spilorosea		mondoexuq1wtf	phakomatosis pigmentovascularis type 3											SCTID:703285005|ICD10:Q85.8|ICD9:759.6|Orphanet:79485|UMLS:CN205986																		owl:Class
MONDO:0016299	biolink:NamedThing	holoprosencephaly-caudal dysgenesis syndrome	Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	mondoexuq1wtf												UMLS:CN201097|Orphanet:2165|ICD10:Q04.2																		owl:Class
MONDO:0004256	biolink:NamedThing	lumbar spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the lumbar region of the spinal cord.	mondoexuq1wtf	meningioma of the lumbar spinal canal and spinal cord|meningioma of lumbar spinal canal and spinal cord|lumbar intraspinal meningioma											DOID:7515|UMLS:C1334436|NCIT:C5298																		owl:Class
MONDO:0010614	biolink:NamedThing	X-linked congenital generalized hypertrichosis	X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.	mondoexuq1wtf	chromosome Xq27.1 Interchromosomal insertion syndrome|hypertrichosis, congenital generalized|chromosome Xq27.1 interchromosomal insertion syndrome|Macias-Flores Garcia-Cruz Rivera syndrome|Cgh|congenital generalized hypertrichosis, Macias-Flores type|Macias Flores-Garcia Cruz-Rivera syndrome|hCG|HTC2|hypertrichosis congenital generalized X-linked											ICD10:Q84.2|GARD:0002863|MESH:C538388|Orphanet:79495|OMIM:307150														https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis				owl:Class
MONDO:0001664	biolink:NamedThing	submucous uterine fibroid		mondoexuq1wtf	submucous leiomyoma of uterus											COHD:195769|DOID:13222|ICD10:D25.0|UMLS:C0153993|ICD9:218.0|SCTID:95279007																		owl:Class
MONDO:0004024	biolink:NamedThing	spinal cord neuroblastoma	A neuroblastoma that affects the spinal cord.	mondoexuq1wtf	neuroblastoma of spinal cord|neuroblastoma of the spinal cord|spinal cord neuroblastoma											DOID:6871|NCIT:C5155|UMLS:C1336046																		owl:Class
MONDO:0015383	biolink:NamedThing	cervicofacial fibrochondroma		mondoexuq1wtf	cervicofacial enchondroma											Orphanet:141067																		owl:Class
MONDO:0001064	biolink:NamedThing	acute eustachian salpingitis	Acute form of otosalpingitis.	mondoexuq1wtf	acute otosalpingitis|otosalpingitis, acute|acute eustachian tube salpingitis											ICD10:H68.01|UMLS:C0155429|DOID:10550|ICD10:H68.019|ICD9:381.51|SCTID:194268005																		owl:Class
MONDO:0012267	biolink:NamedThing	holoprosencephaly 8	A holoprosencephaly that has material basis in variation in the chromosome region 14q13.	mondoexuq1wtf	HPE8|holoprosencephaly type 8|holoprosencephaly 8											UMLS:C1836254|OMIM:609408|DOID:0110879|MESH:C563723																		owl:Class
MONDO:0022615	biolink:NamedThing	burn goodship syndrome		mondoexuq1wtf												GARD:0001041														https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome				owl:Class
MONDO:0020710	biolink:NamedThing	amnionitis	Inflammation of the amnion.	mondoexuq1wtf	Amnionitides|amniotic cavity infection|Amniotic cavity infection|Infection of amniotic cavity|infection of amniotic cavity|amnionitis|Amnionitis											SCTID:10573002|NCIT:C50459|UMLS:C0002631|ICD9:658.40																		owl:Class
MONDO:0003516	biolink:NamedThing	adult teratoma	A teratoma that occurs in an adult.	mondoexuq1wtf	teratoma|adult teratoma|teratoma of adults											NCIT:C9013|UMLS:C1368898|DOID:5565																		owl:Class
MONDO:0011250	biolink:NamedThing	microcephaly, macrotia, and intellectual disability		mondoexuq1wtf	microcephaly, macrotia, and mental retardation|microcephaly, macrotia, and intellectual disability											OMIM:602555|UMLS:C1865204|MESH:C566525																		owl:Class
MONDO:0019151	biolink:NamedThing	oligocone trichromacy	Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.	mondoexuq1wtf	Oligocone syndrome											UMLS:C4302876|UMLS:CN205696|Orphanet:75378|SCTID:722066001																		owl:Class
MONDO:0008979	biolink:NamedThing	chorea, benign familial	Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.	mondoexuq1wtf	chorea, benign familial|benign hereditary chorea|chorea familial benign											OMIM:215450|GARD:0001305|MESH:C565851|UMLS:C1859098														https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea				owl:Class
MONDO:0009355	biolink:NamedThing	Hooft disease		mondoexuq1wtf	Hooft disease|delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids											OMIM:236300|GARD:0009702|MESH:C535329|UMLS:C0268479														https://rarediseases.info.nih.gov/diseases/9702/hooft-disease				owl:Class
MONDO:0015807	biolink:NamedThing	myopic macular degeneration		mondoexuq1wtf	myopic maculopathy											EFO:0009201|SCTID:312898002|Orphanet:178493|UMLS:C0730271|ICD10:H35.3																		owl:Class
MONDO:0020372	biolink:NamedThing	early-onset sutural cataract		mondoexuq1wtf	early-onset cataract with Y-shaped suture opacities											ICD10:Q12.0|Orphanet:98985																		owl:Class
MONDO:0004134	biolink:NamedThing	benign dermal neurilemmoma		mondoexuq1wtf	benign skin neurilemmoma|benign schwannoma of the skin|benign neurilemmoma of the skin|benign skin schwannoma|benign dermal schwannoma|benign schwannoma of skin|benign neurilemmoma of skin											NCIT:C5569|DOID:7181|UMLS:C1332490																		owl:Class
MONDO:0018842	biolink:NamedThing	primary effusion lymphoma	Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).	mondoexuq1wtf	PEL|body cavity-based lymphoma|primary Effusion Lymphoma|AIDS-related lymphoma											MedDRA:10065857|UMLS:C1292753|SCTID:713516007|ICDO:9678/3|ICD10:C83.8|ICD9:202.80|Orphanet:48686|MESH:D054685|EFO:1000491|NCIT:C6915|ONCOTREE:PEL|GARD:0009247														https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma				owl:Class
MONDO:0004182	biolink:NamedThing	stage IVb bladder cancer	Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.	mondoexuq1wtf	Jewett-Marshall stage D1 bladder cancer|Jewett-Marshall bladder cancer|Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 urinary bladder carcinoma|stage IVB bladder cancer|stage IVB urinary bladder carcinoma|Jewett-Marshall stage D2 bladder cancer|stage IVB urinary bladder cancer					Editor note: consider obsoleting or moving to stage						NCIT:C9368|UMLS:C1336362|DOID:7315																		owl:Class
MONDO:0004996	biolink:NamedThing	childhood acute myeloid leukemia	Acute myeloid leukemia occurring in childhood.	mondoexuq1wtf	acute myeloid leukemia (AML)|acute myeloid leukemia of childhood|pediatric acute myelogenous leukemia|pediatric acute myeloblastic leukemia|pediatric AML|childhood acute granulocytic leukemia|childhood acute myelocytic leukemia|childhood acute myeloid leukemia|childhood acute myeloblastic leukemia|pediatric acute myeloid leukemia|pediatric acute myelocytic leukemia|childhood acute myelogenous leukemia|childhood AML|paediatric acute myeloid leukaemia|childhood acute myeloid leukaemia											DOID:0070323|EFO:0000330|UMLS:C0220621|ICDO:M9861/3|NCIT:C9160																		owl:Class
MONDO:0008712	biolink:NamedThing	acrocraniofacial dysostosis	Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	Kaplan Plauchu Fitch syndrome|Kaplan-Plauchu-Fitch syndrome|acrocraniofacial dysostosis											Orphanet:949|ICD10:Q87.0|MESH:C536892|OMIM:201050|UMLS:C1860145|SCTID:720418008|GARD:0003075																		owl:Class
MONDO:0018210	biolink:NamedThing	Alexander disease type II	Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	mondoexuq1wtf	AxD type II											UMLS:CN204730|ICD10:E75.2|Orphanet:363722																		owl:Class
MONDO:0001754	biolink:NamedThing	eclampsia	A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.	mondoexuq1wtf	eclampsia, postpartum|postpartum eclampsia|eclampsia in puerperium											UMLS:C0156678|ICD10:O15|DOID:13593|ICD10:O15.9|UMLS:C0013537|ICD9:642.64|GARD:0006316|NCIT:C87167|SCTID:303063000|MESH:D004461														https://rarediseases.info.nih.gov/diseases/6316/eclampsia				owl:Class
MONDO:0034189	biolink:NamedThing	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome		mondoexuq1wtf												Orphanet:562639																		owl:Class
MONDO:0014168	biolink:NamedThing	severe combined immunodeficiency due to CORO1A deficiency		mondoexuq1wtf	severe combined immunodeficiency due to coronin-1A deficiency|immunodeficiency 8|immunodeficiency type 8|IMD8|SCID due to coronin-1A deficiency|SCID due to CORO1A deficiency|coronin-1A deficiency											Orphanet:228003|OMIM:615401|DOID:0060019|ICD10:D81.2|UMLS:C3809383																		owl:Class
MONDO:0005405	biolink:NamedThing	childhood onset asthma	Asthma that starts in childhood.	mondoexuq1wtf	pediatric asthma|childhood asthma|asthma of childhood											UMLS:C0264408|SCTID:233678006|EFO:0004591																		owl:Class
MONDO:0004824	biolink:NamedThing	neonatal candidiasis	A fungal infection by any of the Candida species in a newborn infant up to 28 days old.	mondoexuq1wtf	neonatal Monilia infection|neonatal moniliasis|neonatal candida infection|neonatal Candida infection											UMLS:C0276682|NCIT:C116810|COHD:440840|ICD10:P37.5|DOID:9577|ICD9:771.7|SCTID:414821002																		owl:Class
MONDO:0012551	biolink:NamedThing	alopecia areata 2		mondoexuq1wtf	AA2|alopecia areata 2											MESH:C565186|UMLS:C1853104|OMIM:610753																		owl:Class
MONDO:0000979	biolink:NamedThing	pinta disease	An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.	mondoexuq1wtf	Azul|endemic treponematosis caused by Treponema carateum|Empeines|infection by Treponema carateum|Carate|pinta|Mal del pinto|Tina|Lota					NCBI Taxonomy appears to lack an entry for T carateum						SCTID:22064009|ICD10:A67.0|ICD10:A67.3|ICD9:103.2|GARD:0007397|EFO:1001396|ICD9:103.1|ICD9:103.9|ICD10:A67.2|UMLS:C0031946|ICD9:103.3|ICD9:103.0|ICD10:A67.1|ICD10:A67|ICD10:A67.9|ICD9:103|MESH:D010874|DOID:1022|NCIT:C85011																		owl:Class
MONDO:0004318	biolink:NamedThing	pulmonary type ovarian small cell carcinoma	An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.	mondoexuq1wtf	ovarian small cell carcinoma, pulmonary type											NCIT:C40440|UMLS:C1518737|DOID:7650																		owl:Class
MONDO:0003795	biolink:NamedThing	ovarian small cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.	mondoexuq1wtf	ovary small cell carcinoma|SCCO|ovarian small cell carcinoma|ovarian small cell neuroendocrine carcinoma|ovarian small cell cancer|small cell carcinoma of the ovary|ovarian small cell NEC|small cell carcinoma of ovary|small cell ovarian carcinoma											Orphanet:370396|ICD10:C56|NCIT:C27390|GARD:0010411|DOID:6179|UMLS:C2212006|EFO:1000431|ONCOTREE:SCCO																		owl:Class
MONDO:0011422	biolink:NamedThing	autosomal recessive proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.	mondoexuq1wtf	AR pRTA|proximal renal tubular acidosis with ocular abnormalities and intellectual disability|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|RTA, proximal, autosomal recessive|proximal renal tubular acidosis, autosomal recessive											MESH:C567038|Orphanet:93607|UMLS:C1970309|OMIM:604278																		owl:Class
MONDO:0012597	biolink:NamedThing	prostate cancer, hereditary, 9		mondoexuq1wtf	HPC9|prostate cancer, hereditary, 9|prostate cancer, hereditary, type 9											OMIM:610997|MESH:C567031|UMLS:C1970250																		owl:Class
MONDO:0011486	biolink:NamedThing	congenital muscular dystrophy 1B	Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.	mondoexuq1wtf	congenital muscular dystrophy type 1B|CMD1B|MDC1B|muscular dystrophy, congenital, 1B											Orphanet:98893|SCTID:764944006|ICD10:G71.2|MESH:C565748|OMIM:604801|UMLS:C1858118|DOID:0110634																		owl:Class
MONDO:0007008	biolink:NamedThing	uremia	A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.	mondoexuq1wtf	uremia of renal origin											ICD10:N19|MESH:D014511|MedDRA:10046369|EFO:1001226|DOID:4676|SCTID:44730006|UMLS:C0041948																		owl:Class
MONDO:0009768	biolink:NamedThing	oculodentodigital dysplasia, autosomal recessive	Autosomal recessive form of oculodentodigital dysplasia.	mondoexuq1wtf	ODOD recessive|oculodentodigital dysplasia, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia recessive|ODOD, autosomal recessive|ODDD, autosomal recessive											GARD:0004045|MESH:C567605|OMIM:257850|UMLS:C2749477																		owl:Class
MONDO:0022941	biolink:NamedThing	deafness hypospadias metacarpal and metatarsal syndrome		mondoexuq1wtf												GARD:0001692														https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome				owl:Class
MONDO:0007234	biolink:NamedThing	branchial myoclonus with spastic paraparesis and cerebellar ataxia		mondoexuq1wtf	branchial myoclonus with spastic paraparesis and cerebellar ataxia											MESH:C566188|OMIM:113610|UMLS:C1862071																		owl:Class
MONDO:0009508	biolink:NamedThing	Lambotte syndrome		mondoexuq1wtf	microcephaly, holoprosencephaly, and intrauterine Growth retardation|Lambotte syndrome											MESH:C537549|GARD:0008470|UMLS:C1855550|OMIM:245552																		owl:Class
MONDO:0012321	biolink:NamedThing	Alzheimer disease 10	An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.	mondoexuq1wtf	Alzheimer's disease 10|Alzheimer disease 10|AD10|Alzheimer's disease type 10|Alzheimer disease familial 10|Alzheimer disease, familial, 10|Ad10|Alzheimer disease type 10											DOID:0110043|OMIM:609636|MESH:C566465|UMLS:C1864828|ICD10:G30																		owl:Class
MONDO:0000087	biolink:NamedThing	polymicrogyria	A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.	mondoexuq1wtf												GARD:0012271|NCIT:C116936|DC:0000363|MESH:D065706|ICD10:Q04.3|UMLS:C0266464|SCTID:4945003|Orphanet:35981																		owl:Class
MONDO:0012751	biolink:NamedThing	aortic aneurysm, familial abdominal, 3		mondoexuq1wtf	aortic aneurysm, familial abdominal, 3|AAA3											UMLS:C2678470|OMIM:611891|MESH:C567501																		owl:Class
MONDO:0022055	biolink:NamedThing	Calabro syndrome		mondoexuq1wtf	craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects											MESH:C537960|GARD:0008584|UMLS:C0796276														https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome				owl:Class
CL:0000828	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003082	biolink:NamedThing	filamentary keratitis		mondoexuq1wtf												ICD10:H16.12|DOID:4664|COHD:380728|ICD9:370.23|UMLS:C0155077|SCTID:51286002																		owl:Class
MONDO:0009559	biolink:NamedThing	mandibulofacial dysostosis with mental deficiency		mondoexuq1wtf	mandibulofacial dysostosis with intellectual disability|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency											OMIM:248400|UMLS:C1855432|MESH:C565420																		owl:Class
MONDO:0003515	biolink:NamedThing	fallopian tube teratoma	A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.	mondoexuq1wtf	fallopian tube teratoma											NCIT:C40131|UMLS:C1517127|DOID:5564																		owl:Class
MONDO:0014634	biolink:NamedThing	46,XY sex reversal 10		mondoexuq1wtf	46,XY sex reversal 10|46,XY Sex reversal type 10|chromosome 17Q24 deletion syndrome|SRXY10|46,XY SEX reversal 10											UMLS:C4225331|OMIM:616425|DOID:0111775																		owl:Class
MONDO:0018249	biolink:NamedThing	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome		mondoexuq1wtf												UMLS:CN204822|Orphanet:369979|ICD10:Q87.2																		owl:Class
MONDO:0013127	biolink:NamedThing	asphyxiating thoracic dystrophy 3	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.	mondoexuq1wtf	polydactyly with neonatal chondrodystrophy type 1|Verma-Naumoff syndrome|short rib-polydactyly syndrome, Saldino-Noonan type|short-rib thoracic dysplasia 3 with or without polydactyly|asphyxiating thoracic dystrophy type 3|ATD3|short rib-polydactyly syndrome, type IIB|short rib-polydactyly syndrome, type 1|polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 2B|SRTD3|short rib-polydactyly syndrome, type I|SRPS2B|short rib-polydactyly syndrome Saldino-Noonan type|type I short rib polydactyly syndrome|SRPS type 1|polydactyly with neonatal chondrodystrophy, type 1|polydactyly with neonatal chondrodystrophy, type III|short rib-polydactyly syndrome type 1|SRPS1|Saldino-Noonan syndrome|SRPS3|polydactyly with neonatal chondrodystrophy, type I|short rib-polydactyly syndrome, type 3|asphyxiating thoracic dystrophy 3											OMIM:613091|NCIT:C163755|Orphanet:93270|GARD:0004834|ICD10:Q77.2|DOID:0110087|DOID:0050549|SCTID:27330009																		owl:Class
MONDO:0006038	biolink:NamedThing	indeterminate colitis	It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.	mondoexuq1wtf	colitis of indeterminate type											NCIT:C27110|ICD9:558.9|UMLS:C0341332|EFO:1000034|ICD10:K52.3|SCTID:235746007																		owl:Class
MONDO:0014430	biolink:NamedThing	intellectual disability, autosomal recessive 45	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive 45|MRT45|FBXO31 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 45|intellectual disability, autosomal recessive type 45|mental retardation, autosomal recessive 45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31											OMIM:615979|UMLS:C4014864																		owl:Class
MONDO:0032897	biolink:NamedThing	intellectual developmental disorder with hypotonia and behavioral abnormalities		mondoexuq1wtf	IDDHBA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES											OMIM:618748																		owl:Class
MONDO:0001431	biolink:NamedThing	toxic or nutritional optic neuropathy	A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.	mondoexuq1wtf	nutritional optic neuropathy											DOID:1209|SCTID:82108004|ICD9:377.33|ICD10:H46.2|UMLS:C0155302																		owl:Class
MONDO:0024284	biolink:NamedThing	demodicidosis of sebaceous gland	A demodicidosis that involves the sebaceous gland.	mondoexuq1wtf	sebaceous gland demodicidosis																													owl:Class
MONDO:0018832	biolink:NamedThing	HTRA1-related autosomal dominant cerebral small vessel disease		mondoexuq1wtf	HTRA1-related autosomal dominant cerebral angiopathy											UMLS:CN776823|Orphanet:482077																		owl:Class
MONDO:0010630	biolink:NamedThing	imprinting gene related to retinoblastoma		mondoexuq1wtf	imprinting gene related to retinoblastoma											OMIM:308290																		owl:Class
MONDO:0007706	biolink:NamedThing	cavernous hemangiomas of face-supraumbilical midline raphe syndrome		mondoexuq1wtf	hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas|supraumbilical midabdominal raphe and facial cavernous hemangiomas|sternal nonunion with supraumbilical raphe|hemangiomas cavernous of face supraumbilical midline raphe											Orphanet:2124|UMLS:C0472694|ICD10:D18.0|MESH:C538144|OMIM:140850|GARD:0008524|SCTID:234140000																		owl:Class
MONDO:0011800	biolink:NamedThing	glioma susceptibility 4		mondoexuq1wtf	GLM4|glioma susceptibility 4											UMLS:C2750944|OMIM:607248																		owl:Class
MONDO:0020041	biolink:NamedThing	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue		mondoexuq1wtf												UMLS:CN227739|Orphanet:98086																		owl:Class
MONDO:0043101	biolink:NamedThing	hypothalamic dysfunction	Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.	mondoexuq1wtf	hypothalamic syndrome|hypothalamic dysfunction											GARD:0002932|SCTID:111568001																		owl:Class
MONDO:0020183	biolink:NamedThing	neurogenic palpebral tumor		mondoexuq1wtf												Orphanet:98593|UMLS:CN207043																		owl:Class
MONDO:0016709	biolink:NamedThing	anaplastic/large cell medulloblastoma	A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.	mondoexuq1wtf	large cell/anaplastic medulloblastoma											UMLS:C4330531|ONCOTREE:AMBL|ICD10:C71.6|Orphanet:251855|NCIT:C129436																		owl:Class
MONDO:0005970	biolink:NamedThing	staphylococcal pneumonia	Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.	mondoexuq1wtf	Staphylococcus pneumonia|Staphylococcus caused pneumonia											ICD9:482.40|EFO:0007496|SCTID:22754005|ICD9:482.49|ICD9:482.4|COHD:259852|MESH:D011023																		owl:Class
MONDO:0002140	biolink:NamedThing	vagina sarcoma	A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.	mondoexuq1wtf	sarcoma of vagina|sarcoma of the vagina|vaginal sarcoma|vagina sarcoma											NCIT:C7737|UMLS:C0238519|DOID:1901																		owl:Class
MONDO:0033373	biolink:NamedThing	developmental and epileptic encephalopathy, 64		mondoexuq1wtf	epileptic encephalopathy, early infantile, 64|EIEE64|DEE64											OMIM:618004|UMLS:CN248512																		owl:Class
MONDO:0017974	biolink:NamedThing	46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors		mondoexuq1wtf	46,XY DSD induced by maternal-exposure to endocrine disruptors											Orphanet:325537|UMLS:CN227235																		owl:Class
MONDO:0033374	biolink:NamedThing	developmental and epileptic encephalopathy, 65		mondoexuq1wtf	epileptic encephalopathy, early infantile, 65|EIEE65|DEE65											UMLS:CN248516|DOID:0080430|OMIM:618008																		owl:Class
MONDO:0001767	biolink:NamedThing	stenosis of lacrimal punctum		mondoexuq1wtf												ICD10:H04.56|COHD:440404|ICD9:375.52|UMLS:C0155244|SCTID:74783009|DOID:13653																		owl:Class
MONDO:0001841	biolink:NamedThing	uterine corpus epithelioid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.	mondoexuq1wtf												UMLS:C1519850|NCIT:C40164|DOID:13951																		owl:Class
MONDO:0003192	biolink:NamedThing	rete ovarii neoplasm	A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.	mondoexuq1wtf	rete ovarii neoplasm (disease)|tumor of rete ovarii|rete ovarii tumor|neoplasm of rete ovarii											NCIT:C40016|UMLS:C1514909|DOID:4895																		owl:Class
MONDO:0017798	biolink:NamedThing	Spigelian hernia-cryptorchidism syndrome		mondoexuq1wtf												UMLS:CN203757|ICD10:K43.6|Orphanet:314432																		owl:Class
MONDO:0015801	biolink:NamedThing	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation		mondoexuq1wtf												UMLS:CN200394|Orphanet:178396																		owl:Class
MONDO:0007994	biolink:NamedThing	micromelic bone dysplasia with cloverleaf skull		mondoexuq1wtf	micromelic bone dysplasia with cloverleaf skull											OMIM:156830|MESH:C536429																		owl:Class
MONDO:0019888	biolink:NamedThing	distal trisomy 20q	Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	mondoexuq1wtf	distal duplication 20q|trisomy 20qter|telomeric duplication 20q|distal trisomy type 20q											SCTID:764500002|ICD10:Q92.3|Orphanet:96107																		owl:Class
MONDO:0002451	biolink:NamedThing	benign prostate phyllodes tumor	A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.	mondoexuq1wtf	benign phyllodes neoplasm of the prostate|benign phyllodes tumor of the prostate|benign phyllodes neoplasm of prostate|prostate phyllodes tumor|benign prostate phyllodes neoplasm|prostate phyllodes tumor, benign|phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|benign prostate phyllodes tumor											DOID:2885|NCIT:C5532|UMLS:C1332535																		owl:Class
MONDO:0100364	biolink:NamedThing	genital herpes simplex type 1 infectious disease	Any herpes simplex type 1 infectious disease that involves the genitals.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3348				owl:Class
MONDO:0004666	biolink:NamedThing	metagonimiasis	An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	mondoexuq1wtf	infection by Metagonimus yokogawai|infections, Metagonimus yokogawai|Metagonimus yokogawai infection											SCTID:37832003|ICD9:121.5|DOID:884|ICD10:B66.8|NCIT:C128390|GARD:0009745|UMLS:C0025530														https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis				owl:Class
MONDO:0019848	biolink:NamedThing	posterior hypospadias	Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.	mondoexuq1wtf	perineal, scrotal or penoscrotal hypospadias											ICD10:Q54.2|Orphanet:95706|ICD10:Q54.3																		owl:Class
MONDO:0400006	biolink:NamedThing	botryomycosis	A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.	mondoexuq1wtf	bacterial pseudomycosis|pyoderma vegetans				2021-05-10 18:49:42+00:00			http://orcid.org/0000-0002-7463-6306				MPATH:859																		owl:Class
MONDO:0044618	biolink:NamedThing	CLCN4-related X-linked intellectual disability syndrome		mondoexuq1wtf												Orphanet:485350																		owl:Class
MONDO:0006760	biolink:NamedThing	fetal erythroblastosis	A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.	mondoexuq1wtf	hemolytic disease of the fetus or newborn|erythroblastosis fetalis|EF - erythroblastosis foetalis|hemolytic disease of the newborn|isoimmune hemolytic disease of the newborn|rhesus isoimmunisation of the newborn|HDFN|haemolytic disease due to rhesus isoimmunisation											MESH:D004899|SCTID:387705004|ICD10:P55|NCIT:C101304|ICD9:773.2|UMLS:C0014761|ICD10:P55.9|DOID:1098|ICD9:773|EFO:1000937																		owl:Class
MONDO:0032886	biolink:NamedThing	Liang-Wang syndrome		mondoexuq1wtf	LIANG-WANG SYNDROME|LIWAS											OMIM:618729																		owl:Class
MONDO:0044663	biolink:NamedThing	aquagenic palmoplantar keratoderma	Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.	mondoexuq1wtf	aquagenic syringeal acrokeratoderma|aquagenic wrinkling of the hands|aquagenic palmoplantar keratoderma|transient reactive papulotranslucent acrokeratoderma|aquagenic wrinkling of the palms|aquagenic keratoderma|Transient reactive papulotranslucent acrokeratoderma											Orphanet:498359|GARD:0012991																		owl:Class
MONDO:0004031	biolink:NamedThing	ovary mixed epithelial carcinoma		mondoexuq1wtf	mixed ovarian carcinoma|mixed epithelial carcinoma of ovary					Editor note: TODO						ONCOTREE:MXOV|DOID:6898																		owl:Class
MONDO:0021540	biolink:NamedThing	hamartoma of lung	A hamartoma (disease) that involves the lung.	mondoexuq1wtf	pulmonary hamartoma|lung hamartoma (disease)|lung hamartoma|lung chondroid hamartoma|hamartoma of the lung											NCIT:C3497|SCTID:254644003|UMLS:C0149927|ICD9:235.7																		owl:Class
MONDO:0018025	biolink:NamedThing	chronic actinic dermatitis		mondoexuq1wtf	chronic photosensitivity dermatitis|actinic reticuloid											ICD9:692.73|Orphanet:330064|ICD10:L57.8|SCTID:52636001|UMLS:C1510437																		owl:Class
MONDO:0018791	biolink:NamedThing	Moyomoya angiopathy		mondoexuq1wtf												Orphanet:477768																		owl:Class
MONDO:0004660	biolink:NamedThing	lung carcinoma in situ	A carcinoma in situ involving a lung.	mondoexuq1wtf	stage 0 lung carcinoma|carcinoma in situ of lung|lung in situ carcinoma|bronchial carcinoma in situ|stage 0 lung cancer|stage 0 lung cancer aJCC v7|stage 0 lung cancer aJCC v6|stage 0 lung cancer aJCC v6 and v7											SCTID:92649001|UMLS:C0685053|ICD9:231.2|NCIT:C27467|DOID:8800|ICD10:D02.2																		owl:Class
MONDO:0021836	biolink:NamedThing	Aksu von Stockhausen syndrome	A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx.	mondoexuq1wtf	hereditary branchial arch defects|aksu von stockhausen syndrome											GARD:0000579|MESH:C535611														https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome				owl:Class
MONDO:0026732	biolink:NamedThing	hypothyroidism, congenital, nongoitrous, 9		mondoexuq1wtf	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9|CHNG9											OMIM:301035																		owl:Class
MONDO:0009187	biolink:NamedThing	celiac disease-epilepsy-cerebral calcification syndrome	Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.	mondoexuq1wtf	CEC|epilepsy with bilateral occipital calcifications|bilateral occipital calcifications with epilepsy|celiac disease, epilepsy, and cerebral calcification syndrome|epilepsy occipital calcifications|celiac disease epilepsy occipital calcifications|familial unilateral and bilateral occipital calcifications and epilepsy											UMLS:C1856930|GARD:0002166|OMIM:226810|Orphanet:1459|MESH:C535496																		owl:Class
MONDO:0014704	biolink:NamedThing	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome		mondoexuq1wtf	Kosaki overgrowth syndrome|KOGS|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration											OMIM:616592|Orphanet:477831|UMLS:C4225270																		owl:Class
MONDO:0006493	biolink:NamedThing	Warthin tumor	An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.	mondoexuq1wtf	adenolymphoma|papillary cystadenoma lymphomatosum (formerly)|Warthin's tumor|papillary cystadenoma lymphomatosum|Warthin tumor											NCIT:C2854|ICDO:8561/0|EFO:1000625|SCTID:422470007|UMLS:C0001429|MESH:D000235|GARD:0008569														https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor				owl:Class
MONDO:0010854	biolink:NamedThing	Toriello-Lacassie-Droste syndrome	Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.	mondoexuq1wtf	aplasia cutis congenita-epibulbar dermoids syndrome|oculo-ectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|Toriello Lacassie Droste syndrome|oes|oculoectodermal syndrome											UMLS:C1838329|Orphanet:3339|SCTID:723554006|MESH:C563969|DOID:0111705|GARD:0010366|OMIM:600268																		owl:Class
MONDO:0005642	biolink:NamedThing	atopic conjunctivitis	Conjunctivitis due to hypersensitivity to various allergens.	mondoexuq1wtf	allergic conjunctivitis|Atopic conjunctivitis|allergic form of conjunctivitis (disease)|allergic conjunctivitis (disease)											EFO:0007141|NCIT:C34506|ICD9:372.14|DOID:11204|UMLS:C0009766|SCTID:473460002|HP:0007879																		owl:Class
MONDO:0004567	biolink:NamedThing	ileus	Decrease in peristalsis in the absence of a mechanical bowel obstruction.	mondoexuq1wtf	ileus of intestine											SCTID:710572000|NCIT:C37979|DOID:8440|UMLS:C1258215|MESH:D045823																		owl:Class
MONDO:0011051	biolink:NamedThing	lethal short-limb skeletal dysplasia, Al Gazali type		mondoexuq1wtf	lethal neonatal short limb dwarfism|lethal short-limb skeletal dysplasia, Al Gazali type|lethal short limb skeletal dysplasia Al Gazali type											UMLS:C1832435|GARD:0004827|MESH:C537598|OMIM:601356														https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type				owl:Class
MONDO:0019606	biolink:NamedThing	simple cryoglobulinemia	Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.	mondoexuq1wtf	cryoglobulinemia type 1											SCTID:723674005|Orphanet:91139|ICD10:D89.1|UMLS:CN206459|UMLS:C4510006																		owl:Class
MONDO:0014884	biolink:NamedThing	cholestasis, progressive familial intrahepatic, 5	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.	mondoexuq1wtf	NR1H4 deficiency|progressive familial intrahepatic cholestasis caused by mutation in NR1H4|cholestasis, progressive familial intrahepatic, 5; PFIC5|cholestasis, progressive familial intrahepatic, type 5|PFIC5|cholestasis, progressive familial intrahepatic, 5|NR1H4 progressive familial intrahepatic cholestasis										MONDO:0018802	UMLS:C4310747|UMLS:CN776839|OMIM:617049|DOID:0070225|Orphanet:480476																		owl:Class
MONDO:0015435	biolink:NamedThing	ring chromosome 19	Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.	mondoexuq1wtf	Ring chromosome type 19|Ring 19|Ring chromosome 19 syndrome|R19|chromosome 19 ring											GARD:0001333|ICD10:Q93.2|SCTID:765484001|MESH:C538310|UMLS:CN036553|Orphanet:1443														https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19				owl:Class
MONDO:0003031	biolink:NamedThing	endometrioid stromal and related neoplasms of the cervix	A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	mondoexuq1wtf	cervix endometrial stromal tumor|endometrioid stromal and related tumors of the cervix|endometrioid stromal and related neoplasms of the cervix											DOID:4521|UMLS:C4289586|NCIT:C40218																		owl:Class
MONDO:0032707	biolink:NamedThing	turnpenny-fry syndrome		mondoexuq1wtf	TPFS|TURNPENNY-FRY SYNDROME|Neurocardioskeletal Syndrome											OMIM:618371																		owl:Class
MONDO:0020495	biolink:NamedThing	peho-like syndrome	PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	mondoexuq1wtf	progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome|PEHOL|peho-like syndrome											Orphanet:99807|OMIM:617507																		owl:Class
MONDO:0013138	biolink:NamedThing	vertigo, benign recurrent, 2		mondoexuq1wtf	BRV2|vertigo, benign recurrent, 2											MESH:C567749|OMIM:613106|UMLS:C2751289																		owl:Class
MONDO:0022802	biolink:NamedThing	Collins-Sakati syndrome		mondoexuq1wtf	Collins Sakati syndrome											GARD:0001429														https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome				owl:Class
MONDO:0010889	biolink:NamedThing	arterial dissection-lentiginosis syndrome	Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	mondoexuq1wtf	arterial dissection with lentiginosis											UMLS:C1838122|ICD10:Q87.8|OMIM:600459|MESH:C563937|Orphanet:1682																		owl:Class
MONDO:0002855	biolink:NamedThing	ectomesenchymoma	An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.	mondoexuq1wtf	rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|rhabdomyosarcoma with ganglionic differentiation|malignant ectomesenchymoma|sarcoma with ganglionic or neuroectodermal differentiation|ectomesenchymoma											DOID:4055|ICDO:8921/3|UMLS:C0431111|NCIT:C4716|GARD:0012279																		owl:Class
MONDO:0015255	biolink:NamedThing	blepharophimosis-radioulnar synostosis syndrome		mondoexuq1wtf	mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|Jorgenson Lenz syndrome|Jorgenson-Lenz syndrome|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|blepharophimosis radioulnar synostosis											ICD10:Q87.2|Orphanet:1256|UMLS:C2931162|GARD:0003057|MESH:C536292																		owl:Class
MONDO:0009544	biolink:NamedThing	macrocephaly/megalencephaly syndrome, autosomal recessive		mondoexuq1wtf	macrocephaly/megalencephaly syndrome, autosomal recessive|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism|MGCPH|mental retardation, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome											GARD:0000148|OMIM:248000|MESH:C537453|UMLS:C3806412																		owl:Class
MONDO:0013732	biolink:NamedThing	glucocorticoid therapy, response to		mondoexuq1wtf	glucocorticoid therapy, response to|GCTR											OMIM:614400																		owl:Class
MONDO:0016989	biolink:NamedThing	Fuchs heterochromic iridocyclitis	Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.	mondoexuq1wtf	Fuchs heterochromic cyclitis|Fuchs heterochromic uveitis|FHI											Orphanet:263479|GARD:0006791|ICD10:H20.8|MedDRA:10017406																		owl:Class
MONDO:0022888	biolink:NamedThing	craniostenosis cataract		mondoexuq1wtf												GARD:0001584														https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract				owl:Class
MONDO:0006358	biolink:NamedThing	parotid gland squamous cell carcinoma	An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.	mondoexuq1wtf	squamous cell carcinoma of the parotid|parotid squamous cell carcinoma|parotid gland squamous cell carcinoma|squamous cell carcinoma of parotid gland|squamous cell carcinoma of parotid|squamous cell carcinoma of the parotid gland											EFO:1000463|UMLS:C1335367|NCIT:C5942																		owl:Class
MONDO:0007180	biolink:NamedThing	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities		mondoexuq1wtf	iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness|De Hauwere syndrome|Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities											OMIM:109120|UMLS:C1862373|Orphanet:1831|MESH:C566234																		owl:Class
MONDO:0008202	biolink:NamedThing	Parotidomegaly, hereditary bilateral		mondoexuq1wtf	Parotidomegaly, hereditary bilateral											OMIM:168800|MESH:C566821|UMLS:C1868590																		owl:Class
MONDO:0011317	biolink:NamedThing	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects		mondoexuq1wtf	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects											OMIM:603394|UMLS:C1863919|MESH:C566377																		owl:Class
MONDO:0022458	biolink:NamedThing	annular constricting bands	A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.	mondoexuq1wtf												GARD:0000704														https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands				owl:Class
MONDO:0004087	biolink:NamedThing	basaloid large cell lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.	mondoexuq1wtf	basaloid large cell lung carcinoma|basaloid lung carcinoma|basaloid large cell carcinoma of the lung											NCIT:C7266|UMLS:C1332463|ONCOTREE:BLCLC|DOID:7045																		owl:Class
MONDO:0005233	biolink:NamedThing	non-small cell lung carcinoma	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.	mondoexuq1wtf	non-small cell cancer of lung|non-small cell lung cancer|non-small cell carcinoma of lung|NSCLC - non-small cell lung cancer|NSCLC|non-small cell lung carcinoma (disease)|non-small cell lung carcinoma|non-small cell carcinoma of the lung|non-small cell cancer of the lung		non-small cell lung carcinoma (disease)									KEGG:05223|MESH:D002289|NCIT:C2926|ONCOTREE:NSCLC|DOID:3908|HP:0030358|ICD10:C34|EFO:0003060|SCTID:254637007|UMLS:C0007131																		owl:Class
MONDO:0005483	biolink:NamedThing	chemotherapy-induced alopecia	Hair loss as a result of chemotherapy treatment.	mondoexuq1wtf												EFO:0005400																		owl:Class
MONDO:0010774	biolink:NamedThing	striatonigral degeneration, infantile, mitochondrial		mondoexuq1wtf	striatonigral degeneration, infantile, mitochondrial|bilateral striatal Necrosis, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial											OMIM:500003|MESH:C564025|UMLS:C1839022																		owl:Class
MONDO:0015638	biolink:NamedThing	benign partial epilepsy of infancy with complex partial seizures	Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	mondoexuq1wtf												Orphanet:166299|ICD10:G40.2|UMLS:CN226717																		owl:Class
MONDO:0000734	biolink:NamedThing	Ohdo syndrome and variants		mondoexuq1wtf	Ohdo blepharophimosis syndrome|Ohdo syndrome											DOID:0060289																		owl:Class
MONDO:0016153	biolink:NamedThing	qualitative or quantitative defects of TRIM32		mondoexuq1wtf												Orphanet:207107																		owl:Class
MONDO:0010671	biolink:NamedThing	microphthalmia, syndromic 1		mondoexuq1wtf	Lenz dysplasia|microphthalmia, syndromic type 1|Maa|Lenz microphthalmia syndrome|microphthalmia, syndromic 1|Maa, formerly|MCOPS1											MESH:C537464|OMIM:309800|ICD9:759.89|SCTID:438504004																		owl:Class
MONDO:0004303	biolink:NamedThing	parathyroid gland clear cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.	mondoexuq1wtf	transitional clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of parathyroid gland|clear cell adenoma of the parathyroid gland|parathyroid transitional clear cell adenoma|parathyroid gland clear cell adenoma|parathyroid clear cell adenoma|clear cell adenoma of parathyroid|clear cell adenoma of the parathyroid|clear cell adenoma of parathyroid gland|transitional clear cell adenoma of parathyroid|transitional clear cell adenoma of the parathyroid|parathyroid gland transitional clear cell adenoma											DOID:7609|NCIT:C7993|UMLS:C0279700																		owl:Class
MONDO:0007577	biolink:NamedThing	esophageal ring, lower		mondoexuq1wtf	esophageal ring, lower											MESH:C562765|OMIM:133240|ICD9:750.3|SCTID:235623002|UMLS:C0341137																		owl:Class
MONDO:0004584	biolink:NamedThing	maple bark strippers' lung		mondoexuq1wtf	alveolitis due to cryptostroma corticale|maple bark stripper's disease|maple bark stripper's lung|maple bark disease|maple bark-strippers' lung|maple-bark strippers' lung											ICD10:J67.6|UMLS:C0155890|SCTID:86638007|DOID:8484|ICD9:495.6																		owl:Class
MONDO:0001789	biolink:NamedThing	neurofibroma of spinal cord	A neurofibroma that arises from the spinal cord.	mondoexuq1wtf	spinal cord neurofibroma|neurofibroma of spinal cord											NCIT:C5145|DOID:13742|UMLS:C1336047																		owl:Class
MONDO:0013507	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3		mondoexuq1wtf	granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|granulomatous disease, chronic, due to Ncf4 deficiency|CDG3|CGD, autosomal recessive cytochrome B-positive, type 3											OMIM:613960|DOID:0070194|UMLS:C3151409																		owl:Class
MONDO:0007042	biolink:NamedThing	Saethre-Chotzen syndrome	Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.	mondoexuq1wtf	Saethre-Chotzen syndrome with eyelid anomalies|acrocephalosyndactyly type 3|SCS|acrocephalosyndactyly type III|Chotzen syndrome|Saethre-Chotzen syndrome|ACS 3|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|type III Acrocephalosyndactyly|acrocephaly, skull asymmetry, and mild syndactyly|acrocephalosyndactyly, type 3|acrocephalo-syndactyly, type 3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly											Orphanet:794|NCIT:C75034|GARD:0007598|OMIM:101400|DOID:14768|EFO:0007029|SCTID:83015004|UMLS:C0175699|ICD10:Q87.0														https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome				owl:Class
MONDO:0002632	biolink:NamedThing	metachronous osteosarcoma of the bone	A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.	mondoexuq1wtf	metachronous osteosarcoma of the bone|metachronous osteosarcoma											DOID:3379|UMLS:C1334704|NCIT:C38157																		owl:Class
MONDO:0006324	biolink:NamedThing	normal breast-like subtype of breast carcinoma	A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.	mondoexuq1wtf	normal breast-like subtype of breast cancer|normal breast-like subtype of breast carcinoma											NCIT:C53557|EFO:1000402|UMLS:C3642471																		owl:Class
MONDO:0002310	biolink:NamedThing	anterior dislocation of lens		mondoexuq1wtf												ICD10:H27.12|COHD:374956|ICD9:379.33|DOID:2460|UMLS:C0155372|SCTID:37283009																		owl:Class
MONDO:0021443	biolink:NamedThing	benign neoplasm of lymph node	A benign neoplasm that involves the lymph node.	mondoexuq1wtf	benign lymph node tumor|lymph node benign neoplasm|benign neoplasm of the lymph node|benign lymph node neoplasm|benign tumor of the lymph node|benign tumor of lymph node											NCIT:C3636|SCTID:92197001|DOID:0080617|ICD9:229.0|UMLS:C0154054																		owl:Class
MONDO:0002755	biolink:NamedThing	solitary osseous plasmacytoma	A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.	mondoexuq1wtf	SPB|solitary plasmacytoma of bone|isolated plasmacytoma of bone|isolated osseous plasmacytoma											DOID:3722|ONCOTREE:SPB|ICD9:238.6|SCTID:426336007|UMLS:C0272256|NCIT:C7812																		owl:Class
MONDO:0024490	biolink:NamedThing	tumor grade X, general grading system		mondoexuq1wtf	undetermined grade																													owl:Class
MONDO:0026767	biolink:NamedThing	immunodeficiency 74, COVID-19-related, X-linked		mondoexuq1wtf	respiratory insufficiency due to SARS-CoV-2 viral infection|TLR7 deficiency|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED|IMD74											OMIM:301051																		owl:Class
MONDO:0032673	biolink:NamedThing	basal ganglia calcification, idiopathic, 7, autosomal recessive		mondoexuq1wtf	IBGC7|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE											OMIM:618317																		owl:Class
MONDO:0003746	biolink:NamedThing	ciliary body spindle cell melanoma	A spindle cell melanoma that involves the ciliary body.	mondoexuq1wtf	spindle cell melanoma of ciliary body|ciliary body spindle cell melanoma|spindle cell melanoma of the ciliary body											DOID:6043|UMLS:C1333052|NCIT:C6117																		owl:Class
MONDO:0015731	biolink:NamedThing	high anorectal malformation	High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.	mondoexuq1wtf												ICD10:Q42.1|SCTID:253771003|ICD9:751.5|Orphanet:171201|ICD10:Q42.0																		owl:Class
MONDO:0006726	biolink:NamedThing	diaphragmatic eventration	A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.	mondoexuq1wtf	diaphragmatic eventration|diaphragmatic eventration (disease)		diaphragmatic eventration (disease)									ICD10:Q79.1|HP:0009110|MESH:D003965|SCTID:34168003|EFO:1000898|DOID:10480																		owl:Class
MONDO:0016048	biolink:NamedThing	isolated autosomal dominant hypomagnesemia, Glaudemans type	Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.	mondoexuq1wtf												ICD10:E83.4|UMLS:CN200728|Orphanet:199326|SCTID:722008003																		owl:Class
MONDO:0024614	biolink:NamedThing	neurotic depression	A term used for any state of depression that is not psychotic.	mondoexuq1wtf	neurotic depression											NCIT:C35369																		owl:Class
MONDO:0004414	biolink:NamedThing	tamoxifen-related endometrial lesion	A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.	mondoexuq1wtf	tamoxifen-related endometrial disorder											NCIT:C40159|DOID:7962|UMLS:C1515212																		owl:Class
MONDO:0044995	biolink:NamedThing	parasympathetic nervous system disease	A disease or disorder that involves the parasympathetic nervous system.	mondoexuq1wtf	disorder of parasympathetic nervous system|parasympathetic nervous system disease|disease or disorder of parasympathetic nervous system|disease of parasympathetic nervous system|parasympathetic nervous system disease or disorder											SCTID:46091002																		owl:Class
MONDO:0017935	biolink:NamedThing	hyperinsulinism due to HNF1A deficiency	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.	mondoexuq1wtf	hyperinsulinemic hypoglycemia due to HNF1A deficiency											ICD10:E16.1|UMLS:C4303475|Orphanet:324575|SCTID:721234004																		owl:Class
MONDO:0008509	biolink:NamedThing	distal symphalangism	Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.	mondoexuq1wtf	symphalangism, distal|distal symphalangism (disease)|distal symphalangism|Sym2		distal symphalangism (disease)									Orphanet:3248|UMLS:C1861401|ICD10:Q70.9|MESH:C566099|OMIM:185700|HP:0100263																		owl:Class
MONDO:0021498	biolink:NamedThing	benign neoplasm of placenta	A benign neoplasm that involves the placenta.	mondoexuq1wtf	benign placental tumor|benign tumor of placenta|benign placental neoplasm|placenta benign neoplasm|benign tumor of the placenta|benign placenta tumor|benign neoplasm of the placenta|benign placenta neoplasm|placental neoplasms, benign											UMLS:C0686274|NCIT:C8545|SCTID:92297008|ICD9:219.8																		owl:Class
MONDO:0001744	biolink:NamedThing	angle-closure glaucoma	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	mondoexuq1wtf	primary open-angle glaucoma with narrow angles|angle closure glaucoma|ACG - angle-closure glaucoma|Narrow cleft glaucoma											SCTID:392291006|MESH:D015812|UMLS:C0017605|DOID:13550																		owl:Class
MONDO:0008785	biolink:NamedThing	sideroblastic anemia 2		mondoexuq1wtf	pyridoxine refractory sideroblastic anemia|anemia, sideroblastic, 2, pyridoxine-refractory|SIDBA2|anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|sideroblastic anemia pyridoxine-refractory autosomal recessive											DOID:0060065|GARD:0008249|MESH:C567145|OMIM:205950																		owl:Class
MONDO:0010228	biolink:NamedThing	deafness, X-linked 3		mondoexuq1wtf	deafness, X-linked 3|DFNX3|deafness X-linked, DFN3|deafness, X-linked 4, congenital sensorineural											MESH:C564727|OMIM:300030|GARD:0001707|DOID:0111736																		owl:Class
MONDO:0000925	biolink:NamedThing	hyperlucent lung	A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.	mondoexuq1wtf												DOID:10032|UMLS:C0524799|MESH:D019568																		owl:Class
MONDO:0012235	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 7	Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.	mondoexuq1wtf	spinocerebellar ataxia autosomal recessive 7|spinocerebellar ataxia, autosomal recessive 7|childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|spinocerebellar ataxia, autosomal recessive type 7|SCAR7											GARD:0012232|OMIM:609270|Orphanet:284324|MESH:C563753|DOID:0080059|UMLS:C1836474|ICD10:G11.1														https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7				owl:Class
MONDO:0008159	biolink:NamedThing	postmenopausal osteoporosis	Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.	mondoexuq1wtf	osteoporosis, postmenopausal|bone mineral density quantitative trait locus											SCTID:102447009|EFO:0003854|COHD:4010333|UMLS:C0029458|MESH:D015663																		owl:Class
MONDO:0005298	biolink:NamedThing	osteoporosis	A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).	mondoexuq1wtf	fracture, hip, susceptibility to|osteoporosis, involutional											MESH:D010024|ICD10:M81|SCTID:64859006|NCIT:C3298|COHD:80502|OMIM:166710|ICD10:M81.0|DOID:11476|ICD9:733.00|GARD:0011932|ICD9:733.0|ICD9:733.09|EFO:0003882																		owl:Class
MONDO:0017997	biolink:NamedThing	telecanthus-hypertelorism-strabismus-pes cavus syndrome	Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	mondoexuq1wtf												UMLS:CN204205|Orphanet:3293																		owl:Class
MONDO:0018979	biolink:NamedThing	multifocal motor neuropathy	Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.	mondoexuq1wtf	MMN|multifocal motor neuropathy with conduction block|MMNCB											GARD:0011011|ICD10:G61.8|SCTID:230591002|ICD10:G61.82|UMLS:C0393847|ICD9:357.89|Orphanet:641														https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy				owl:Class
MONDO:0011237	biolink:NamedThing	hyperlipidemia, combined, 1	Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene.	mondoexuq1wtf	hyperlipidemia, familial combined, 1|familial combined hyperlipidemia caused by mutation in USF1|hyperlipidemia, combined, type 1|USF1 familial combined hyperlipidemia|hyperlipidemia, combined, 1|hyplip1											OMIM:602491|UMLS:C1865289|MESH:C566535																		owl:Class
MONDO:0002216	biolink:NamedThing	brain sarcoma	A sarcoma arising from the brain.	mondoexuq1wtf	sarcoma of brain|primary brain sarcoma|sarcoma of the brain|brain sarcoma											UMLS:C1332607|DOID:2132|NCIT:C5154																		owl:Class
MONDO:0010744	biolink:NamedThing	thrombocytopenia with elevated serum IgA and renal disease		mondoexuq1wtf	thrombocytopenia with elevated serum IgA and renal disease											GARD:0010576|OMIM:314000|UMLS:C1839162|MESH:C564051																		owl:Class
MONDO:0010212	biolink:NamedThing	xeroderma pigmentosum group D	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.	mondoexuq1wtf	xeroderma pigmentosum IV|xeroderma pigmentosum, complementation group type D|XP group H|xeroderma pigmentosum VIII|XP4 xeroderma pigmentosum VIII|ERCC2 xeroderma pigmentosum|xeroderma pigmentosum caused by mutation in ERCC2|xeroderma pigmentosum 4|XP, Group D|xeroderma pigmentosum group type D|XP, Group H, formerly|XPDC|XPH|XP, Group H|XP4|XPD|XP group D|XP4 xeroderma pigmentosum VIII, formerly|XP8|xeroderma pigmentosum, complementation group D|XP-D											NCIT:C3967|OMIM:278730|DOID:0110845|MESH:C562591|ICD10:Q82.1|SCTID:68637004|Orphanet:276258																		owl:Class
MONDO:0014686	biolink:NamedThing	short stature, microcephaly, and endocrine dysfunction		mondoexuq1wtf	short stature, microcephaly, and endocrine dysfunction|SSMED											OMIM:616541|UMLS:C4225288																		owl:Class
MONDO:0002086	biolink:NamedThing	clear cell acanthoma	An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.	mondoexuq1wtf	Degos acanthoma|clear cell acanthoma (morphologic abnormality)|pale (clear cell) acanthoma											SCTID:254670002|DOID:172|NCIT:C97041|UMLS:C0333992																		owl:Class
MONDO:0010963	biolink:NamedThing	autosomal dominant nonsyndromic deafness 6	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.	mondoexuq1wtf	autosomal dominant deafness 6|DFNA14|DFNA38|deafness, autosomal dominant 14|deafness, autosomal dominant type 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|DFNA6|autosomal dominant deafness 14|deafness, autosomal dominant 6|deafness, autosomal dominant 38|autosomal dominant nonsyndromic deafness type 6|WFS1 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 38											DOID:0110584|UMLS:C1833021|OMIM:600965|MESH:C563421|ICD10:H90.3																		owl:Class
MONDO:0033563	biolink:NamedThing	retinitis pigmentosa 90		mondoexuq1wtf	RP90|RETINITIS PIGMENTOSA 90											OMIM:619007																		owl:Class
MONDO:0008261	biolink:NamedThing	hereditary sclerosing poikiloderma, Weary type		mondoexuq1wtf	poikiloderma, hereditary sclerosing											OMIM:173700|MESH:C562824|Orphanet:221039|ICD10:Q82.8																		owl:Class
MONDO:0024285	biolink:NamedThing	epsilon-heavy chain disease		mondoexuq1wtf	IgE heavy chain disease											SCTID:60620005|UMLS:C0272254|ICD9:273.2																		owl:Class
MONDO:0007173	biolink:NamedThing	atrial septal defect 7	Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.	mondoexuq1wtf	ASD7|ASD with or without atrioventricular conduction defects|atrial septal defect-atrioventricular conduction defects syndrome|atrial heart septal defect type 7|atrial septal defect 7 with or without atrioventricular conduction defects|atrial septal defect 7, with or without AV conduction defects|atrial heart septal defect caused by mutation in NKX2-5|NKX2-5 atrial heart septal defect											DOID:0110112|UMLS:C3502353|OMIM:108900|Orphanet:1479|ICD10:Q21.1																		owl:Class
MONDO:0014961	biolink:NamedThing	spermatogenic failure 16	Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.	mondoexuq1wtf	SUN5 azoospermia|acephalic spermatozoa syndrome|spermatogenic failure 16; SPGF16|azoospermia caused by mutation in SUN5|spermatogenic failure 16|SPGF16|spermatogenic failure type 16											DOID:0070184|OMIM:617187|UMLS:C4310674																		owl:Class
MONDO:0010063	biolink:NamedThing	corneal-cerebellar syndrome	A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	spinocerebellar degeneration and corneal dystrophy|Der Kaloustian-Jarudi-Khoury syndrome|corneal-cerebellar syndrome|spinocerebellar degeneration corneal dystrophy|spinocerebellar degeneration-corneal dystrophy syndrome|corneal dystrophy with spinocerebellar Degeneration|Der Kaloustian Jarudi Khoury syndrome|corneal cerebellar syndrome											GARD:0001525|ICD10:G11.1|Orphanet:3177|UMLS:C1849087|OMIM:271310|MESH:C535472|SCTID:720750004																		owl:Class
MONDO:0012113	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 3		mondoexuq1wtf	EIG3|epilepsy, idiopathic generalized, susceptibility to, 3|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9											OMIM:608762|DOID:0111318																		owl:Class
MONDO:0002597	biolink:NamedThing	notochordal tumor	A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.	mondoexuq1wtf	neoplasm of notochord|notochordal neoplasm|notochord neoplasm|malignant neoplasm of notochord|malignant notochord neoplasm|notochord cancer|notochord tumor|tumor of notochord|cancer of notochord|notochordal tumor|notochordal cancer											DOID:3303|NCIT:C7063|UMLS:C1335069																		owl:Class
MONDO:0011333	biolink:NamedThing	light fixation seizure syndrome		mondoexuq1wtf	light fixation seizure syndrome|Lfss|M syndrome											OMIM:603530|MESH:C566367|UMLS:C1863767																		owl:Class
MONDO:0044687	biolink:NamedThing	chronic relapsing inflammatory optic neuropathy		mondoexuq1wtf	CRION|chronic recurrent isolated optic neuritis											Orphanet:499085																		owl:Class
MONDO:0011310	biolink:NamedThing	long chain fatty acids, defect in transport of		mondoexuq1wtf	long chain fatty acids, defect in TRANSPORT OF											OMIM:603376																		owl:Class
MONDO:0020308	biolink:NamedThing	benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	mondoexuq1wtf	late-onset benign childhood occipital epilepsy											Orphanet:98816|UMLS:CN207128|ICD10:G40.0																		owl:Class
MONDO:0005916	biolink:NamedThing	placenta accreta	The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)	mondoexuq1wtf	placenta Increta|placenta Percreta|Percreta, placenta|Increta, placenta|accreta, placenta											MESH:D010921|DOID:4744|EFO:0007440|NCIT:C26856|ICD10:O43.21|SCTID:70129008																		owl:Class
MONDO:0032821	biolink:NamedThing	myopathy, congenital, progressive, with scoliosis		mondoexuq1wtf	MYOSCO|MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS											OMIM:618578																		owl:Class
MONDO:0004385	biolink:NamedThing	adult xanthogranuloma	A xanthogranuloma that occurs in an adult.	mondoexuq1wtf	adult xanthogranuloma|xanthogranuloma of adults											DOID:7875|UMLS:C1332220|NCIT:C27514																		owl:Class
MONDO:0008781	biolink:NamedThing	juvenile amyotrophic lateral sclerosis with dementia	A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.	mondoexuq1wtf	ALS-dementia complex|ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia											MESH:C565956|OMIM:205200|DOID:0110067|UMLS:C1859806																		owl:Class
MONDO:0007111	biolink:NamedThing	aneurysm, intracranial berry type 1		mondoexuq1wtf	aneurysmal subarachnoid hemorrhage, familial|aneurysm, intracranial berry, 1|ANIB1											MESH:C566284|UMLS:C1862932|OMIM:105800																		owl:Class
MONDO:0017428	biolink:NamedThing	congenital deformities of fingers		mondoexuq1wtf												Orphanet:294947|ICD10:Q68.1																		owl:Class
MONDO:0017427	biolink:NamedThing	congenital deformities of limbs		mondoexuq1wtf												Orphanet:294944|MedDRA:10024500																		owl:Class
MONDO:0003492	biolink:NamedThing	lacrimal gland squamous cell carcinoma	A squamous cell carcinoma that involves the lacrimal gland.	mondoexuq1wtf	lacrimal gland epidermoid carcinoma|epidermoid carcinoma of lacrimal gland|epidermoid carcinoma of the lacrimal gland|squamous cell carcinoma of the lacrimal gland|squamous cell carcinoma of lacrimal gland|lacrimal gland squamous cell carcinoma											UMLS:C1334360|NCIT:C6092|DOID:5529																		owl:Class
MONDO:0011958	biolink:NamedThing	bile and pancreatic ducts, complete absence of		mondoexuq1wtf	bile and pancreatic ducts, complete absence of											MESH:C564298|OMIM:608063																		owl:Class
MONDO:0013094	biolink:NamedThing	glioma susceptibility 5		mondoexuq1wtf	GLM5|glioma susceptibility 5											OMIM:613030																		owl:Class
MONDO:0016601	biolink:NamedThing	adult-onset citrullinemia type I	Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	mondoexuq1wtf	late-onset citrullinemia type 1|adult-onset citrullinemia type 1|late-onset citrullinemia type I											ICD10:E72.2|UMLS:CN201794|Orphanet:247573																		owl:Class
MONDO:0700063	biolink:NamedThing	complete	A disease characteristic in which the cause of the disease is present in all the cells of the organism.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0024665	biolink:NamedThing	indeterminate sex and/or pseudohermaphroditism		mondoexuq1wtf	gynandrism											SCTID:268229003|ICD9:752.7|ICD10:Q56																		owl:Class
MONDO:0009152	biolink:NamedThing	ectopia lentis 2, isolated, autosomal recessive	An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.	mondoexuq1wtf	ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis|ECTOL2|autosomal recessive isolated ectopia lentis 2|ectopia lentis 2, isolated, autosomal recessive											OMIM:225100|GARD:0002060|UMLS:C3541474|DOID:0111149																		owl:Class
MONDO:0008935	biolink:NamedThing	cerebellar ataxia-hypogonadism syndrome	Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.	mondoexuq1wtf	cerebellar ataxia and hypogonadotropic hypogonadism|LHRH deficiency and ataxia|cerebellar ataxia - hypogonadism|luteinizing hormone releasing hormone, deficiency of with ataxia|luteinizing hormone-releasing hormone, deficiency of, with ataxia|Gordon Holmes syndrome|luteinizing hormone-releasing hormone deficiency with ataxia|Gordon-Holmes syndrome|GDHS											UMLS:C1859305|GARD:0003314|ICD10:G11.8|MESH:C565870|Orphanet:1173|OMIM:212840|DOID:0111587																		owl:Class
MONDO:0017117	biolink:NamedThing	congenital non-communicating hydrocephalus		mondoexuq1wtf	congenital obstructive hydrocephalus											ICD10:Q03.1|SCTID:762295002|Orphanet:269510|ICD10:Q03.8|ICD10:Q03.2																		owl:Class
MONDO:0023046	biolink:NamedThing	ectodermal dysplasia blindness		mondoexuq1wtf												GARD:0002045														https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness				owl:Class
MONDO:0014370	biolink:NamedThing	pontocerebellar hypoplasia type 2E	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.	mondoexuq1wtf	non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53|pontocerebellar hypoplasia, type 2E|PCH2E|VPS53 non-syndromic pontocerebellar hypoplasia											DOID:0060271|UMLS:C4014488|OMIM:615851																		owl:Class
MONDO:0032771	biolink:NamedThing	paragangliomas 7		mondoexuq1wtf	PGL7|PARAGANGLIOMAS 7											OMIM:618475																		owl:Class
MONDO:0008494	biolink:NamedThing	cryohydrocytosis	A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	mondoexuq1wtf	CHC|hereditary cryohydrocytosis with normal stomatin|pseudohyperkalemia Cardiff|cryohydrocytosis|stomatocytosis, cold-sensitive											MESH:C535827|OMIM:185020|Orphanet:398088|GARD:0010184|UMLS:C1861453|ICD10:D58.8																		owl:Class
MONDO:0018589	biolink:NamedThing	AApoAIV amyloidosis		mondoexuq1wtf	apolipoprotein A-IV amyloidosis											Orphanet:439232|ICD10:E85.8																		owl:Class
MONDO:0023179	biolink:NamedThing	fragile X syndrome type 2		mondoexuq1wtf												GARD:0002367														https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2				owl:Class
MONDO:0008350	biolink:NamedThing	pulmonic stenosis and deafness		mondoexuq1wtf	pulmonic stenosis and deafness											UMLS:C1867406|OMIM:178651																		owl:Class
MONDO:0021764	biolink:NamedThing	acrofacial dysostosis preis type	Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand.	mondoexuq1wtf												GARD:0000495														https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type				owl:Class
MONDO:0016838	biolink:NamedThing	16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	mondoexuq1wtf	monosomy 16q24.3|chromosome 16q24.3 microdeletion syndrome|Del(16)(q24.3)											UMLS:C4304594|GARD:0010935|UMLS:CN202174|ICD10:Q93.5|SCTID:719580004|Orphanet:261250														https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome				owl:Class
MONDO:0019421	biolink:NamedThing	X-linked intellectual disability, Seemanova type	X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.	mondoexuq1wtf												SCTID:718897009|Orphanet:85323|ICD10:Q87.8|UMLS:CN227630																		owl:Class
MONDO:0017946	biolink:NamedThing	ABeta amyloidosis, Iowa type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.	mondoexuq1wtf	ABetaD23N amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Iowa type|HCHWA, Iowa type|cerebral amyloid angiopathy, APP-related, Iowa variant											ICD10:I68.0*|ICD10:E85.4+|Orphanet:324708																		owl:Class
MONDO:0006477	biolink:NamedThing	undifferentiated ovarian carcinoma	An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.	mondoexuq1wtf	undifferentiated carcinoma of ovary|anaplastic ovarian carcinoma|undifferentiated ovarian cancer|anaplastic carcinoma of ovary|ovarian undifferentiated carcinoma|undifferentiated ovarian carcinoma|ovary undifferentiated carcinoma|anaplastic carcinoma of the ovary|undifferentiated carcinoma of the ovary											NCIT:C4509|SCTID:254856004|EFO:1000605|UMLS:C0346167																		owl:Class
MONDO:0012329	biolink:NamedThing	short stature and Facioauriculothoracic malformations		mondoexuq1wtf	short stature and Facioauriculothoracic malformations											UMLS:C1864791|OMIM:609654|MESH:C566457																		owl:Class
MONDO:0007278	biolink:NamedThing	cataract 32 multiple types	A cataract that has material basis in mutation in the region 14q22-q23.	mondoexuq1wtf	anterior polar cataract 1|CTPP5|posterior polar cataract 5|cataract, anterior polar, 1|cataract 32, multiple types|cataract, anterior polar|CTAA1|cataract, posterior polar, 5|CTRCT32					Links to OMIM series but not listed.						OMIM:115650|ICD10:Q12.0|DOID:0110227																		owl:Class
MONDO:0013407	biolink:NamedThing	retinitis pigmentosa 47	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.	mondoexuq1wtf	SAG retinitis pigmentosa|retinitis pigmentosa 47|retinitis pigmentosa type 47|RP47|retinitis pigmentosa caused by mutation in SAG											UMLS:C3151061|OMIM:613758|ICD10:H35.5|DOID:0110369																		owl:Class
MONDO:0004374	biolink:NamedThing	adult extraskeletal osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring in adults.	mondoexuq1wtf	extraskeletal osteosarcoma|extraosseous osteosarcoma of adults|adult extraskeletal osteosarcoma|adult extraosseous osteosarcoma											UMLS:C0278985|NCIT:C7925|DOID:7827																		owl:Class
MONDO:0014169	biolink:NamedThing	dyschromatosis universalis hereditaria 3	Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.	mondoexuq1wtf	dyschromatosis universalis hereditaria 3|ABCB6 dyschromatosis universalis hereditaria|dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria type 3|DUH3											UMLS:C3809394|OMIM:615402																		owl:Class
MONDO:0022140	biolink:NamedThing	Charles bonnet syndrome	Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.	mondoexuq1wtf	charles bonnet syndrome|CBS											GARD:0010343|SCTID:193756007|UMLS:C0339731														https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome				owl:Class
MONDO:0023255	biolink:NamedThing	glossopalatine ankylosis micrognathia ear anomalies		mondoexuq1wtf												GARD:0002495														https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies				owl:Class
MONDO:0006854	biolink:NamedThing	mesenchymoma	A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	mondoexuq1wtf	mesenchymoma											NCIT:C3233|UMLS:C0025464|ICDO:8990/1|DOID:2668|MESH:D008637|EFO:1001042																		owl:Class
MONDO:0033368	biolink:NamedThing	developmental and epileptic encephalopathy, 59		mondoexuq1wtf	DEE59|EIEE59|infantile epileptic encephalopathy 59|epileptic encephalopathy, early infantile, 59											UMLS:CN870853|OMIM:617904|DOID:0080291																		owl:Class
MONDO:0009460	biolink:NamedThing	indolylacroyl glycinuria with intellectual disability		mondoexuq1wtf	indolylacroyl glycinuria with intellectual disability|indolylacroyl glycinuria with mental retardation											UMLS:C1855738|OMIM:243050|MESH:C565466																		owl:Class
MONDO:0023134	biolink:NamedThing	febrile ulceronecrotic mucha-habermann disease	Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.	mondoexuq1wtf	febrile ulceronecrotic pityriasis lichenoides acuta|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)|febrile ulceronecrotic mucha-habermann disease|FUMHD|variant of Mucha-Habermann disease|ulceronecrotic Mucha-Habermann disease											UMLS:C1274297|SCTID:402860008|GARD:0009516|MESH:C537077														https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease				owl:Class
MONDO:0024250	biolink:NamedThing	acute lichenoid pityriasis		mondoexuq1wtf	Habermann disease|PLEVA|disease, Habermann's|mucha-habermann syndrome|Habermann's disease|mucha habermann disease|Habermanns disease|Mucha Habermann disease|Mucha-Habermann disease|mucha-habermann disease|disease, Habermann|parapsoriasis varioliformis acuta|parapsoriasis lichenoides et varioliformis acuta|disease, Mucha-Habermann											ICD9:696.5|SCTID:86487001																		owl:Class
MONDO:0043458	biolink:NamedThing	radiation injury	Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.	mondoexuq1wtf	Injuries, radiation|Sicknesses, radiation|radiation sickness|radiation syndromes|injury, radiation|radiation syndrome|syndrome, radiation|radiation injury|sickness, radiation|radiation Sicknesses|syndromes, radiation											MESH:D011832|UMLS:C0034535																		owl:Class
MONDO:0001997	biolink:NamedThing	root resorption	Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)	mondoexuq1wtf												DOID:14550|UMLS:C0035851|MESH:D012391																		owl:Class
MONDO:0003590	biolink:NamedThing	fibroblastic liposarcoma	A liposarcoma characterized by the presence of a fibroblastic component.	mondoexuq1wtf	fibroblastic liposarcoma|fibroblastic liposarcoma (morphologic abnormality)											ICDO:8857/3|NCIT:C6509|DOID:5698|UMLS:C1266130																		owl:Class
MONDO:0018655	biolink:NamedThing	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome		mondoexuq1wtf												Orphanet:447893|ICD10:E75.2|UMLS:CN237713																		owl:Class
MONDO:0011207	biolink:NamedThing	xanthomatosis, susceptibility to		mondoexuq1wtf	xanthomatosis, susceptibility to											UMLS:C1865704|OMIM:602247																		owl:Class
MONDO:0001022	biolink:NamedThing	disuse amblyopia		mondoexuq1wtf	deprivation amblyopia											ICD9:368.02|SCTID:193638002|UMLS:C0152189|DOID:10378|ICD10:H53.01																		owl:Class
MONDO:0005827	biolink:NamedThing	lipoatrophic diabetes	A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.	mondoexuq1wtf	lipoatrophic Diabete|lipoatrophic diabetes mellitus|lipoatrophic diabetes|diabetes, lipoatrophic|Diabete, lipoatrophic					Editor note: consider merging						MESH:D003923|EFO:0007346|NCIT:C34537|DOID:11712																		owl:Class
MONDO:0022787	biolink:NamedThing	cleft palate heart disease polydactyly absent tibia		mondoexuq1wtf												GARD:0001389														https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia				owl:Class
MONDO:0012413	biolink:NamedThing	syndromic microphthalmia type 5	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	mondoexuq1wtf	retinal dystrophy, early-onset, with or without pituitary dysfunction|MCOPS5|syndromic microphthalmia caused by mutation in OTX2|microphthalmia syndromic 5|OTX2-related eye disorders|syndromic microphthalmia/anophthalmia due to OTX2 mutation|OTX2 syndromic microphthalmia|microphthalmia, syndromic type 5|microphthalmia, syndromic 5											MESH:C566441|ICD10:Q11.2|GARD:0003692|SCTID:718761007|Orphanet:178364|UMLS:C4305151|UMLS:C1864690|OMIM:610125																		owl:Class
MONDO:0030877	biolink:NamedThing	cardioacrofacial dysplasia 2		mondoexuq1wtf	CAFD2|cardioacrofacial dysplasia 2											OMIM:619143																		owl:Class
MONDO:0014533	biolink:NamedThing	developmental and epileptic encephalopathy, 28	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.	mondoexuq1wtf	early infantile epileptic encephalopathy caused by mutation in WWOX|WWOX early infantile epileptic encephalopathy|EIEE28|DEE28|epileptic encephalopathy, early infantile, 28|epileptic encephalopathy, early infantile, type 28											DOID:0080452|OMIM:616211|UMLS:C4015519																		owl:Class
MONDO:0009193	biolink:NamedThing	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract		mondoexuq1wtf	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract											MESH:C565584|UMLS:C1856902|OMIM:226985																		owl:Class
MONDO:0024338	biolink:NamedThing	mucinous neoplasm		mondoexuq1wtf	mucinous tumor|mucinous neoplasm											UMLS:C1334811|NCIT:C7070																		owl:Class
MONDO:0009992	biolink:NamedThing	myoglobinuria, acute recurrent, autosomal recessive		mondoexuq1wtf	rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic|myoglobinuria, acute recurrent, autosomal recessive											MESH:C564832|UMLS:C1849386|OMIM:268200																		owl:Class
MONDO:0016008	biolink:NamedThing	fetal hydantoin syndrome	Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.	mondoexuq1wtf	fetal dihydantoin syndrome|phenytoin embryopathy|Dilantin embryopathy|phenytoin embryofetopathy											MedDRA:10016508|SCTID:70065001|UMLS:C0265372|ICD9:759.89|ICD10:Q86.1|MESH:C537922|Orphanet:1912|GARD:0006435|NCIT:C98927														https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome				owl:Class
MONDO:0012991	biolink:NamedThing	Kahrizi syndrome	An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.	mondoexuq1wtf	intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive|KHRZ|Kahrizi syndrome|mental retardation, cataract, coloboma, and kyphosis, autosomal recessive											OMIM:612713|UMLS:CN200191|Orphanet:168972|MESH:C567196|DOID:0050807|UMLS:C2675185																		owl:Class
MONDO:0016783	biolink:NamedThing	maternal 14q32.2 hypermethylation syndrome		mondoexuq1wtf												UMLS:CN202039|Orphanet:254534|ICD10:Q99.8																		owl:Class
MONDO:0032721	biolink:NamedThing	spondyloepiphyseal dysplasia, kondo-fu type		mondoexuq1wtf	SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE|Sed With Elevated Blood Lysosomal Enzymes|SEDKF											OMIM:618392																		owl:Class
MONDO:0010244	biolink:NamedThing	CGF1		mondoexuq1wtf	social cognition|CGF1|cognitive function 1, social											OMIM:300082|UMLS:C1848140																		owl:Class
MONDO:0019488	biolink:NamedThing	myoclonic epilepsy in non-progressive encephalopathies	A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	mondoexuq1wtf	myoclonic status in non-progressive encephalopathies|myoclonus epilepsy in non-progressive encephalopathies											ICD10:G40.4|Orphanet:86913																		owl:Class
MONDO:0006189	biolink:NamedThing	eccrine porocarcinoma	A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.	mondoexuq1wtf	eccrine porocarcinoma|eccrine porocarcinoma of skin|epidermotropic eccrine carcinoma|malignant eccrine poroma|porocarcinoma|porocarcinoma/spiroadenocarcinoma											MESH:D057090|NCIT:C5560|SCTID:254708001|DOID:7566|ONCOTREE:POCA|GARD:0007431|EFO:1000229|UMLS:C1266065|ICDO:8409/3														https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma				owl:Class
MONDO:0003656	biolink:NamedThing	hemoglobinuria	A laboratory test result which indicates free hemoglobin in the urine.	mondoexuq1wtf						May be obsoleted as it represents a finding						ICD10:R82.3|UMLS:C0019048|ICD9:791.2|DOID:582|MESH:D006456																		owl:Class
MONDO:0008213	biolink:NamedThing	pectus excavatum	A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.	mondoexuq1wtf	funnel chest|pectus excavatum (disease)|pectus excavatum		pectus excavatum (disease)									COHD:141955|SCTID:391987005|HP:0000767|OMIM:169300|MESH:D005660|ICD9:754.81																		owl:Class
MONDO:0014308	biolink:NamedThing	familial temporal lobe epilepsy 6	A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.	mondoexuq1wtf	epilepsy, familial temporal lobe, 6|familial temporal lobe epilepsy type 6|ETL6					Editor note: TODO						OMIM:615697|DOID:0060749|UMLS:C3810320																		owl:Class
MONDO:0014732	biolink:NamedThing	hypomyelinating leukodystrophy 12	Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.	mondoexuq1wtf	hypomyelinating leukodystrophy type 12|leukodystrophy caused by mutation in VPS11|leukodystrophy, hypomyelinating, type 12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy, hypomyelinating, 12|VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|VPS11 leukodystrophy|HLD12											Orphanet:466934|DOID:0060796|UMLS:C4225247|OMIM:616683																		owl:Class
MONDO:0043768	biolink:NamedThing	thrombocytopenic purpura	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.	mondoexuq1wtf	thrombopenic purpura|purpuras, thrombocytopenic|thrombopenic purpuras|purpuras, thrombopenic|purpura, thrombopenic|thrombocytopenic purpura|thrombocytopenic purpuras											UMLS:C0857305|SCTID:302873008|NCIT:C26870|MESH:D011696																		owl:Class
MONDO:0008295	biolink:NamedThing	sporadic porphyria cutanea tarda	An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.	mondoexuq1wtf	porphyria cutanea tarda type I|PCT, 'sporadic' type|porphyria cutanea tarda, type I|porphyria cutanea tarda, type 1|PCT, type 1|acquired porphyria cutanea tarda					Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial						ICD10:E80.1|UMLS:C1867968|SCTID:402479002|OMIM:176090|UMLS:C1276127|MESH:C566768|Orphanet:443057																		owl:Class
MONDO:0021645	biolink:NamedThing	esophageal varices with bleeding		mondoexuq1wtf												ICD10:I85.01|ICD9:456.0|ICD10:I85.0|SCTID:17709002																		owl:Class
MONDO:0003254	biolink:NamedThing	cardiac granular cell neoplasm	A very rare granular cell tumor that arises from the heart.	mondoexuq1wtf	heart granular cell tumor|Cardiac granular cell neoplasm|granular cell tumor of heart|Cardiac granular cell tumor|granular cell tumor of the heart|granular cell neoplasm of heart|granular cell neoplasm of the heart											DOID:5044|NCIT:C5360|UMLS:C1332845																		owl:Class
MONDO:0010644	biolink:NamedThing	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis		mondoexuq1wtf	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis					Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations						UMLS:C1839874|OMIM:308990																		owl:Class
MONDO:0003634	biolink:NamedThing	proteinuria	The presence of abnormal amounts of protein in the urine.	mondoexuq1wtf						Consider obsoleting / use HPO						ICD10:R80.9|MESH:D011507|DOID:576|COHD:75650|ICD10:R80|ICD9:791.0																		owl:Class
MONDO:0019072	biolink:NamedThing	intrahepatic cholestasis	Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.	mondoexuq1wtf	pregnancy related cholestasis|ICP|gravidic intrahepatic cholestasis|cholestasis, intrahepatic of pregnancy|intrahepatic cholestasis of pregnancy|Gravidic intrahepatic cholestasis|pregnancy-related cholestasis|familial recurrent intrahepatic cholestasis of pregnancy|RICP|familial intrahepatic cholestasis of pregnancy|recurrent intrahepatic cholestasis of pregnancy											GARD:9804|UMLS:C0008372|GARD:0009804|EFO:0009048|Orphanet:69665|MESH:D002780|DOID:1852|DOID:0070227|ICD10:O26.6|SCTID:235888006																		owl:Class
MONDO:0000210	biolink:NamedThing	thiopurine metabolic disease		mondoexuq1wtf												OMIMPS:610460|DC:0000721																		owl:Class
MONDO:0012230	biolink:NamedThing	myopia 10		mondoexuq1wtf	myopia 10|MYP10											MESH:C563758|OMIM:609259|UMLS:C1836503																		owl:Class
MONDO:0016490	biolink:NamedThing	hemoglobin C-beta-thalassemia syndrome	Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.	mondoexuq1wtf	HBC-beta-thalassemia syndrome|C-beta-thalassemia											Orphanet:231242|ICD10:D58.2|UMLS:CN201488																		owl:Class
MONDO:0010171	biolink:NamedThing	Usher syndrome type 1C	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	USH1C|Usher syndrome, type I, Acadian variety|Usher syndrome type I Acadian variety|USHER syndrome, type IC|Usher syndrome, type 1C|Usher syndrome, Acadian variety|Usher syndrome type IC											ICD10:H35.5|DOID:0110830|OMIM:276904|GARD:0005437|UMLS:C1848604														https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c				owl:Class
MONDO:0015103	biolink:NamedThing	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	mondoexuq1wtf	PVA/ADA, Fallot type|APV/ADA, Fallot type|absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome											ICD10:Q22.2|UMLS:CN197455|Orphanet:101206																		owl:Class
MONDO:0019462	biolink:NamedThing	splenic marginal zone lymphoma	Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.	mondoexuq1wtf	SLVL|splenic marginal zone lymphoma with villous lymphocytes|splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma|splenic marginal zone B-cell lymphoma with villous lymphocytes|marginal zone lymphoma of the spleen|marginal zone lymphoma of spleen|SMZL|splenic marginal zone B-cell lymphoma											Orphanet:86854|ICD10:C83.0|DOID:0050750|NCIT:C4663|EFO:1000550|SCTID:763666008|ICDO:9689/3|UMLS:C0349632|ONCOTREE:SMZL|MedDRA:10062113																		owl:Class
MONDO:0019413	biolink:NamedThing	ischio-vertebral syndrome	Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.	mondoexuq1wtf	ischio-vertebral dysplasia|ischio-spinal dysostosis											UMLS:CN206143|ICD10:Q77.8|UMLS:C4274732|Orphanet:85200|SCTID:715654001																		owl:Class
MONDO:0044204	biolink:NamedThing	Shwachman-Diamond syndrome 1		mondoexuq1wtf	Shwachman-Diamond syndrome 1|lipomatosis of pancreas, congenital|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome|SDS1|pancreatic insufficiency and bone marrow dysfunction											OMIM:260400																		owl:Class
MONDO:0017991	biolink:NamedThing	Takayasu arteritis	Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.	mondoexuq1wtf	Takayasu's disease|Takayasu disease|aortic arch arteritis|Young female arteritis|Takayasu arteritis|pulseless disease|Takayasu's arteritis|TA|aortic Arch syndrome|pharyngeal arch artery syndromic disease|idiopathic aortitis											DOID:2508|COHD:440740|UMLS:C0039263|MESH:D013625|SCTID:239937004|GARD:0007730|NCIT:C34391|EFO:1001857|OMIM:207600|MedDRA:10043097|NCIT:C35062|ICD9:446.7|ICD10:M31.4|Orphanet:3287																		owl:Class
MONDO:0016154	biolink:NamedThing	qualitative or quantitative defects of myotubularin		mondoexuq1wtf												Orphanet:207110																		owl:Class
MONDO:0011361	biolink:NamedThing	prostate cancer/brain cancer susceptibility		mondoexuq1wtf	Pcbc|prostate cancer/brain cancer susceptibility|Capb											OMIM:603688																		owl:Class
MONDO:0033556	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15		mondoexuq1wtf	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15|MDDGB15|Muscular Dystrophy, Congenital, Dpm3-Related											OMIM:618992																		owl:Class
MONDO:0007254	biolink:NamedThing	breast cancer	A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.	mondoexuq1wtf	malignant tumor of the breast|malignant neoplasm of the breast|mammary tumor|malignant neoplasm of breast|primary breast cancer|mammary cancer|mammary neoplasm|cancer of breast|breast cancer|malignant breast neoplasm|malignant tumor of breast|malignant breast tumor|breast tumor											NCIT:C9335|ICD10:C50|ICD9:174.8|ICD10:C50-C50|DOID:1612|SCTID:254837009																		owl:Class
MONDO:0017158	biolink:NamedThing	pulmonary hypertension with unclear multifactorial mechanism		mondoexuq1wtf	PH with unclear multifactorial mechanism											Orphanet:275844																		owl:Class
MONDO:0019328	biolink:NamedThing	macrocystic lymphatic malformation	A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.	mondoexuq1wtf	cavernous lymphangioma|cavernous lymphatic malformation|macrocystic lymphangioma											Orphanet:79489|GARD:0006010|ICD10:D18.1|NCIT:C53316																		owl:Class
MONDO:0009369	biolink:NamedThing	non-immune hydrops fetalis	Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.	mondoexuq1wtf	hydrops fetalis, Alpha-thalassemia-related|Hemoglobin H hydrops fetalis syndrome|non-immune HF|non-immune fetal edema|hydrops fetalis, nonimmune|non-immune fetal hydrops|NIHF											SCTID:276509008|NCIT:C111905|ICD10:P83.2|OMIM:236750|ICD9:778.0|EFO:0009051|Orphanet:363999|ICD10:P56.9|UMLS:C0455988																		owl:Class
MONDO:0007647	biolink:NamedThing	gastric volvulus, intrathoracic		mondoexuq1wtf	gastric volvulus, intrathoracic											MESH:C564989|OMIM:137210|UMLS:C1850902																		owl:Class
MONDO:0006698	biolink:NamedThing	cholecystolithiasis	Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.	mondoexuq1wtf												MESH:D041761|EFO:1000864|DOID:11151|UMLS:C0947622|MedDRA:10049890																		owl:Class
MONDO:0003333	biolink:NamedThing	benign struma ovarii	A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.	mondoexuq1wtf	benign struma ovarii|struma ovarii, benign											DOID:5209|NCIT:C40012|UMLS:C1511104																		owl:Class
MONDO:0043172	biolink:NamedThing	pfeiffer rockelein syndrome		mondoexuq1wtf	asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia											MESH:C537890|UMLS:C2931656|GARD:0004306																		owl:Class
MONDO:0004435	biolink:NamedThing	liver fibrosarcoma	A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	liver fibrosarcoma (disease)|liver fibrosarcoma|fibrosarcoma of the liver|fibrosarcoma of liver|hepatic fibrosarcoma											NCIT:C5832|DOID:8022|UMLS:C1333966																		owl:Class
MONDO:0013620	biolink:NamedThing	congenital myasthenic syndrome 16	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.	mondoexuq1wtf	SCN4A congenital myasthenic syndrome|congenital myasthenic syndrome type 16|CMS16|myasthenic syndrome, congenital, Acetazolamide-responsive|congenital myasthenic syndrome acetazolamide-responsive|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome caused by mutation in SCN4A|myasthenic syndrome, congenital, 16											OMIM:614198|DOID:0110682																		owl:Class
MONDO:0011436	biolink:NamedThing	autosomal recessive distal spinal muscular atrophy 1	Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.	mondoexuq1wtf	SMARD1|spinal muscular atrophy, distal, autosomal recessive, type 1|SIANRF|autosomal recessive spinal muscular atrophy with respiratory distress|DSMA1|spinal muscular atrophy, distal, autosomal recessive, 1|spinal muscular atrophy caused by mutation in IGHMBP2|dSMA1|HMN 6|HMN VI|diaphragmatic spinal muscular atrophy|spinal muscular atrophy, diaphragmatic|severe infantile axonal neuropathy with respiratory failure type 1|IGHMBP2 spinal muscular atrophy|severe infantile axonal neuropathy with respiratory failure|dHMN6|spinal muscular atrophy with respiratory distress 1|autosomal recessive distal spinal muscular atrophy type 1|neuronopathy, Severe infantile axonal, with respiratory failure|spinal muscular atrophy with respiratory distress type 1|distal-HMN type 6|distal hereditary motor neuropathy type 6|neuronopathy, distal hereditary motor, type VI|Hmn6|neuronopathy, distal hereditary motor, type 6											OMIM:604320|SCTID:711483003|ICD10:G12.2|Orphanet:98920|MESH:C536880|ICD9:335.19|GARD:0008592|DOID:0111064|UMLS:C1858517																		owl:Class
MONDO:0003064	biolink:NamedThing	inverted transitional cell papilloma	A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.	mondoexuq1wtf	inverted transitional papilloma|transitional papilloma, inverted|inverted transitional cell papilloma											DOID:4630|UMLS:C0334269|NCIT:C4118|ICDO:8121/1																		owl:Class
MONDO:0016770	biolink:NamedThing	actinic lichen planus	Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.	mondoexuq1wtf	summertime actinic lichenoid eruption|lichenoid melanodermatitis|lichen planus subtropicus|lichen planus actinus|lichen planus tropicus|actinic LP											SCTID:200999007|UMLS:C0406365|ICD10:L43.8|Orphanet:254395|GARD:0012673														https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus				owl:Class
MONDO:0012389	biolink:NamedThing	myopia 12, autosomal dominant		mondoexuq1wtf	MYP12|myopia 12, autosomal dominant											UMLS:C1864940|MESH:C566489|OMIM:609995																		owl:Class
MONDO:0015438	biolink:NamedThing	ring chromosome 22	Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.	mondoexuq1wtf	chromosome 22 ring|r(22) syndrome|R22|Ring chromosome 22 syndrome|Ring 22|Ring chromosome type 22											SCTID:13555004|MESH:C536795|GARD:0001336|ICD10:Q93.2|Orphanet:1446|UMLS:CN036599														https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22				owl:Class
MONDO:0019626	biolink:NamedThing	isolated ankyloblepharon filiforme adnatum	Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.	mondoexuq1wtf												Orphanet:91397|ICD10:Q10.3																		owl:Class
MONDO:0006119	biolink:NamedThing	breast mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.	mondoexuq1wtf	breast mucosa-associated lymphoid tissue lymphoma|breast MALT lymphoma											UMLS:C1332633|EFO:1000146|NCIT:C35688																		owl:Class
MONDO:0019105	biolink:NamedThing	renal nutcracker syndrome	A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.	mondoexuq1wtf	left renal vein entrapment syndrome|nutcracker syndrome|RNS											Orphanet:71273|SCTID:717267005|GARD:0011971|EFO:1001838|MESH:D059228|UMLS:C3178770																		owl:Class
MONDO:0010157	biolink:NamedThing	Tryptophanuria with dwarfism		mondoexuq1wtf	Tryptophanuria with dwarfism											GARD:0004268|ICD9:259.4|SCTID:12045002|OMIM:276100|MESH:C562658|UMLS:C0268473														https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism				owl:Class
MONDO:0007889	biolink:NamedThing	lentigines	Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).	mondoexuq1wtf	lentigines											MESH:D007911|OMIM:150900																		owl:Class
MONDO:0010389	biolink:NamedThing	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.	mondoexuq1wtf	immunodeficiency type 34|atypical Mycobacteriosis, familial, X-linked 2|immunodeficiency 34, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|X-linked MSMD due to CYBB deficiency|IMD34|immunodeficiency 34|CYBB X-linked mendelian susceptibility to mycobacterial diseases											UMLS:C1970859|Orphanet:319623|MESH:C567068|ICD10:D84.8|OMIM:300645																		owl:Class
MONDO:0016200	biolink:NamedThing	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -		mondoexuq1wtf	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -											Orphanet:209203																		owl:Class
MONDO:0024309	biolink:NamedThing	neuropathy, hereditary sensory and autonomic, type 2A	A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13	mondoexuq1wtf	neuropathy, congenital sensory|hereditary sensory and autonomic neuropathy type 2A|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory and autonomic, type IIA|acroosteolysis, neurogenic|Morvan disease|hereditary sensory and autonomic neuropathy type IIA|HSAN 2A|HSAN2A|HSN 2A|neuropathy, hereditary sensory radicular, autosomal recessive|acroosteolysis, Giaccai type|neuropathy, hereditary sensory, type 2A					Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125						DOID:0070155|OMIM:201300																		owl:Class
MONDO:0022567	biolink:NamedThing	bhaskar jagannathan syndrome		mondoexuq1wtf												UMLS:C2930901|MESH:C535437																		owl:Class
MONDO:0010577	biolink:NamedThing	deafness, X-linked 1		mondoexuq1wtf	deafness, X-linked 2, sensorineural congenital|deafness, X-linked type 1|DFNX1|deafness, X-linked 1											DOID:0111739|UMLS:C1844677|OMIM:304500|MESH:C564433																		owl:Class
MONDO:0016499	biolink:NamedThing	acute pandysautonomia	Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.	mondoexuq1wtf	acute panautonomic GBS|acute panautonomic neuropathy|acute panautonomic Guillain-BarrC) syndrome|acute panautonomic Guillain-Barré syndrome											Orphanet:231457|SCTID:430042004|ICD10:G61.0|UMLS:C2315246																		owl:Class
MONDO:0000971	biolink:NamedThing	chest wall lipoma	A benign adipose tissue neoplasm of the chest wall.	mondoexuq1wtf	lipoma of the chest wall|chest wall lipoma|lipoma of chest wall											ICD9:214.8|DOID:10200|SCTID:448270009|UMLS:C1332932|NCIT:C6719																		owl:Class
MONDO:0007820	biolink:NamedThing	fused mandibular incisors	Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.	mondoexuq1wtf	'Double Tooth'|Double tooth|incisors, FUSED mandibular											Orphanet:2287|UMLS:CN201433|GARD:0002419|OMIM:147251|SCTID:707796002|ICD10:K00.2														https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors				owl:Class
MONDO:0011858	biolink:NamedThing	spastic paraplegia, ataxia, and intellectual disability		mondoexuq1wtf	spastic paraplegia, ataxia, and intellectual disability|Spar|spastic paraplegia, ataxia, and mental retardation											UMLS:C1843661|OMIM:607565|MESH:C564378																		owl:Class
MONDO:0001893	biolink:NamedThing	spinal cord melanoma	A melanoma (disease) that involves the spinal cord.	mondoexuq1wtf	melanoma of the spinal cord|spinal cord melanoma|melanoma of spinal cord|melanoma (disease) of spinal cord|spinal cord melanoma (disease)											DOID:14151|NCIT:C5158|UMLS:C1336045																		owl:Class
MONDO:0004733	biolink:NamedThing	pyriform sinus cancer	A primary or metastatic malignant neoplasm that affects the pyriform sinus.	mondoexuq1wtf	malignant tumor of pyriform sinus|malignant neoplasm of the pyriform fossa|malignant tumor of the pyriform fossa|malignant tumor of the pyriform sinus|malignant neoplasm of pyriform sinus|malignant pyriform fossa neoplasm|malignant tumor of pyriform fossa|malignant neoplasm of pyriform fossa|malignant pyriform sinus tumor|malignant pyriform fossa tumor|malignant neoplasm of the pyriform sinus|malignant pyriform sinus neoplasm											DOID:9235|SCTID:363401000|ICD10:C12|ICD9:148.1|NCIT:C3531|UMLS:C0153400																		owl:Class
MONDO:0030835	biolink:NamedThing	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy		mondoexuq1wtf	DIGFAN											OMIM:619090																		owl:Class
MONDO:0020554	biolink:NamedThing	Heiner syndrome	Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.	mondoexuq1wtf	cow's milk hypersensitivity											SCTID:707441009|Orphanet:99932|UMLS:CN207456|ICD9:518.89|ICD10:J99.8*|ICD10:E83.1+																		owl:Class
MONDO:0044332	biolink:NamedThing	childhood-onset benign chorea with striatal involvement		mondoexuq1wtf												Orphanet:494541																		owl:Class
MONDO:0016316	biolink:NamedThing	mucopolysaccharidosis type 2, attenuated form	Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.	mondoexuq1wtf	iduronate 2-sulfatase deficiency type B|mucopolysaccharidosis type IIB|mucopolysaccharidosis type II, attenuated form|MPS2B|mucopolysaccharidosis type 2B|MPSIIB|Hunter syndrome type B											ICD10:E76.1|UMLS:CN201132|Orphanet:217093																		owl:Class
MONDO:0004681	biolink:NamedThing	learning disability	A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.	mondoexuq1wtf	Academic skill disorder|learning disorder											SCTID:1855002|ICD9:315.2|NCIT:C89334|UMLS:CN229495|MESH:D007859|ICD10:F81.9|DOID:8927																		owl:Class
MONDO:0019895	biolink:NamedThing	distal monosomy 4q		mondoexuq1wtf	distal deletion 4q|telomeric deletion 4q|monosomy 4qter|distal monosomy type 4q											Orphanet:96145|ICD10:Q93.5																		owl:Class
MONDO:0012890	biolink:NamedThing	pontocerebellar hypoplasia type 2B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.	mondoexuq1wtf	PCH2B|TSEN2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|pontocerebellar hypoplasia, type 2B											DOID:0060268|OMIM:612389|UMLS:C2676466|MESH:C567325																		owl:Class
MONDO:0018030	biolink:NamedThing	tetrasomy 9p	Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).	mondoexuq1wtf	tetrasomy of short arm of chromosome 9|Isochromosome 9p|Mosaic tetrasomy 9p|chromosome 9p tetrasomy|tetrasomy type 9p											Orphanet:3310|GARD:0000042|UMLS:C0795832|ICD10:Q99.8|MESH:C538027|SCTID:715530004														https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p				owl:Class
MONDO:0016946	biolink:NamedThing	partial trisomy of the short arm of chromosome 9	Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9.	mondoexuq1wtf	Duplication 9p|partial trisomy of chromosome 9p|chromosome 9p duplication|partial trisomy of the short arm of chromosome type 9|partial duplication of chromosome 9p|trisomy 9p|partial trisomy 9p|9p trisomy|9p duplication|partial duplication of the short arm of chromosome 9											GARD:0005364|Orphanet:262767																		owl:Class
MONDO:0019980	biolink:NamedThing	renal hypoplasia, bilateral	Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.	mondoexuq1wtf												ICD10:Q60.4|SCTID:268232000|Orphanet:97362																		owl:Class
MONDO:0016053	biolink:NamedThing	isolated cerebellar vermis hypoplasia	Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	mondoexuq1wtf												ICD10:Q04.3|SCTID:766709000|Orphanet:199630																		owl:Class
MONDO:0019542	biolink:NamedThing	acute liver failure	Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.	mondoexuq1wtf	fulminant hepatic failure|acute hepatic failure											UMLS:C0162557|Orphanet:90062|SCTID:197270009|NCIT:C84396|MESH:D017114|MedDRA:10000804|ICD10:K72.0																		owl:Class
MONDO:0010800	biolink:NamedThing	Wolfram syndrome, mitochondrial form		mondoexuq1wtf	diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form|Wolfram syndrome, mitochondrial form|Didmoad syndrome, mitochondrial form											DOID:0080583|MESH:C564012|OMIM:598500|UMLS:C1838782																		owl:Class
MONDO:0012779	biolink:NamedThing	celiac disease, susceptibility to, 10		mondoexuq1wtf	CELIAC10|gluten-sensitive enteropathy, susceptibility to, 10|celiac disease, susceptibility to, 10											OMIM:612008																		owl:Class
MONDO:0009936	biolink:NamedThing	familial primary pulmonary hypoplasia	Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.	mondoexuq1wtf	pulmonary hypoplasia, primary|lung agenesis|primary pulmonary hypoplasia											ICD9:748.5|Orphanet:2257|OMIM:265430|SCTID:277656005|UMLS:CN226916|ICD10:Q33.6																		owl:Class
MONDO:0004415	biolink:NamedThing	lipid-cell variant infiltrating bladder urothelial carcinoma		mondoexuq1wtf	infiltrating bladder urothelial carcinoma, Lipid-cell variant											NCIT:C39828|UMLS:C1512738|DOID:7967																		owl:Class
MONDO:0013703	biolink:NamedThing	intellectual disability, autosomal recessive 33		mondoexuq1wtf	mental retardation, autosomal recessive 33|MRT33|intellectual disability, autosomal recessive 33											OMIM:614341|UMLS:C3280539																		owl:Class
MONDO:0016275	biolink:NamedThing	adenocarcinoma of cervix uteri	A adenocarcinoma that involves the uterine cervix.	mondoexuq1wtf	uterine cervix adenocarcinoma|cervical adenocarcinoma											ICD10:C53.8|Orphanet:213772|ICD10:C53.0|ICD10:C53.1																		owl:Class
MONDO:0003982	biolink:NamedThing	bilateral breast carcinoma	Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.	mondoexuq1wtf	bilateral breast cancer|bilateral breast carcinoma											NCIT:C8287|DOID:6741|UMLS:C0281267																		owl:Class
MONDO:0009038	biolink:NamedThing	craniosynostosis-fibular aplasia syndrome	Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.	mondoexuq1wtf	Lowry syndrome|craniosynostosis with fibular aplasia											UMLS:C1857492|OMIM:218550|SCTID:732250002|Orphanet:1533|MESH:C565665|ICD10:Q87.2																		owl:Class
MONDO:0100381	biolink:NamedThing	acute myeloid leukemia, t(6;11)(q27;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)	mondoexuq1wtf	AML, t(6;11)(q27;q23)|AML, t(6;11)(q27;q23.3)											NCIT:C132105																		owl:Class
MONDO:0032564	biolink:NamedThing	hennekam lymphangiectasia-lymphedema syndrome 3		mondoexuq1wtf	HKLLS3|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3											OMIM:618154																		owl:Class
MONDO:0017397	biolink:NamedThing	constitutional dyserythropoietic anemia		mondoexuq1wtf												ICD10:D64.4|Orphanet:293830																		owl:Class
MONDO:0012741	biolink:NamedThing	prostate cancer, hereditary, 12	Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.	mondoexuq1wtf	HPC12|EHBP1 familial prostate cancer|prostate cancer, hereditary, type 12|familial prostate cancer caused by mutation in EHBP1|prostate cancer, hereditary, 12											UMLS:C2678479|MESH:C567510|OMIM:611868																		owl:Class
MONDO:0011947	biolink:NamedThing	HNP1		mondoexuq1wtf	hypertensive nephropathy|HNP1											OMIM:608026|UMLS:C0848548|MESH:C563161																		owl:Class
MONDO:0550003	biolink:NamedThing	SEC61B-related polycystic liver disease	Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.	mondoexuq1wtf																										https://github.com/monarch-initiative/mondo/issues/1882				owl:Class
MONDO:0018311	biolink:NamedThing	acromelanosis	Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.	mondoexuq1wtf	progressive acromelanosis											Orphanet:39|ICD9:709.09|ICD10:L81.4|GARD:0004500|SCTID:239089006														https://rarediseases.info.nih.gov/diseases/4500/acromelanosis				owl:Class
MONDO:0011069	biolink:NamedThing	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction		mondoexuq1wtf	cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome|cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction											OMIM:601389|GARD:0001227|MESH:C538072|UMLS:C1832391														https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction				owl:Class
MONDO:0016213	biolink:NamedThing	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.	mondoexuq1wtf												ICD10:Q82.8|Orphanet:210133|UMLS:CN226881																		owl:Class
MONDO:0003879	biolink:NamedThing	ovarian endometrioid adenocarcinofibroma	A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.	mondoexuq1wtf	ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma											NCIT:C40060|DOID:6445|ICDO:8381/3|UMLS:C1518711																		owl:Class
MONDO:0008175	biolink:NamedThing	pacman dysplasia	Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.	mondoexuq1wtf	pacman dysplasia|Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome|epiphyseal stippling with osteoclastic hyperplasia											OMIM:167220|Orphanet:1952|MESH:C538095|UMLS:C1833676|SCTID:722127006|ICD10:Q77.8|GARD:0004189														https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia				owl:Class
MONDO:0019768	biolink:NamedThing	X-linked intellectual disability, Golabi-Ito-hall type	Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	mondoexuq1wtf												Orphanet:93947|UMLS:CN206703																		owl:Class
MONDO:0021287	biolink:NamedThing	carcinoma in situ of epiglottis	A in situ carcinoma that involves the epiglottis.	mondoexuq1wtf	Epiglottis carcinoma in situ|carcinoma in situ of epiglottis|stage 0 epiglottic carcinoma aJCC v7|stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottis carcinoma|stage 0 epiglottic throat cancer|epiglottis in situ carcinoma|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|epiglottis carcinoma in situ|stage 0 epiglottic carcinoma|stage 0 epiglottic carcinoma aJCC v6|carcinoma in situ of the Epiglottis|epiglottic carcinoma in situ											SCTID:92584005|NCIT:C4592|UMLS:C0347103																		owl:Class
MONDO:0015167	biolink:NamedThing	amniotic band syndrome	Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.	mondoexuq1wtf	amniotic band constriction|amniotic bands|familial amniotic bands|amniotic deformity-adhesion-mutilation syndrome|Adam syndrome|deformity due to amniotic band|amniotic bands sequence|congenital constricting bands											ICD10:Q79.8|GARD:0000429|SCTID:440214006|NCIT:C84552|MESH:D000652|Orphanet:1034																		owl:Class
MONDO:0010742	biolink:NamedThing	pentalogy of Cantrell	Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.	mondoexuq1wtf	Tas|Cantrell deformity|thoracoabdominal syndrome|Midline defects, X-linked|thoraco-abdominal syndrome|Cantrell Haller Ravitsch syndrome|Cantrell pentalogy|pentalogy of Cantrell|Cantrell syndrome|THAS											OMIM:313850|ICD10:Q89.7|NCIT:C99011|UMLS:C0559483|Orphanet:1335|ICD9:759.89|SCTID:281587000|MESH:D058502|GARD:0007359														https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell				owl:Class
MONDO:0004102	biolink:NamedThing	columnar cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.	mondoexuq1wtf	columnar cell variant papillary thyroid gland carcinoma|columnar cell variant papillary carcinoma|columnar cell variant thyroid gland papillary carcinoma											UMLS:C1333120|NCIT:C35830|ICDO:8344/3|DOID:7088																		owl:Class
MONDO:0010989	biolink:NamedThing	Mayer-Rokitansky-Küster-Hauser syndrome type 2	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.	mondoexuq1wtf	Klippel-Feil deformity, conductive deafness, and absent vagina|Mayer-Rokitansky-Küster-Hauser syndrome type 2|atypical MRKH syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MURCS association|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|MRKH, type 2|MRKH syndrome type 2|MURCS											GARD:0005513|SCTID:717705004|OMIM:601076|Orphanet:2578|ICD10:Q87.8																		owl:Class
MONDO:0015450	biolink:NamedThing	triatrial heart	A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.	mondoexuq1wtf	Cor triatriatum											COHD:441108|Orphanet:1463|NCIT:C84651|ICD9:746.82|ICD10:Q24.2|SCTID:55510008|GARD:0006194																		owl:Class
MONDO:0006146	biolink:NamedThing	chondroid hamartoma	A hamartoma that is characterized by the presence of chondroid elements.	mondoexuq1wtf												NCIT:C42589|UMLS:C1707390|EFO:1000175																		owl:Class
MONDO:0011696	biolink:NamedThing	melanoma, uveal, susceptibility to, 2		mondoexuq1wtf	melanoma, uveal, susceptibility to, 2|Uvm2|melanoma, uveal, susceptibility to, type 2											OMIM:606661																		owl:Class
MONDO:0043219	biolink:NamedThing	migraine with brainstem aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.	mondoexuq1wtf	Bickerstaff migraine|vertebrobasilar migraine|MBA|basilar artery migraine with aura|basilar artery migraine|basilar-type migraine|basilar migraine|brainstem migraine|bickerstaff's migraine											SCTID:83351003|NCIT:C117013|GARD:0005896																		owl:Class
MONDO:0024349	biolink:NamedThing	pityriasis alba		mondoexuq1wtf	pityriasis alba											ICD9:696.5|SCTID:402296004																		owl:Class
MONDO:0001337	biolink:NamedThing	inflamed seborrheic keratosis		mondoexuq1wtf												COHD:40483107|SCTID:442348004|UMLS:C0376117|DOID:11685|ICD10:L82.0|ICD9:702.11																		owl:Class
MONDO:0002192	biolink:NamedThing	vulvar angiokeratoma	An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.	mondoexuq1wtf	mammalian vulva angiokeratoma of Fordyce|angiokeratoma of Fordyce of mammalian vulva|mammalian vulva angiokeratoma|angiokeratoma of mammalian vulva											NCIT:C8596|UMLS:C1274281|DOID:2066|SCTID:402841001																		owl:Class
MONDO:0001327	biolink:NamedThing	pelvic muscle wasting		mondoexuq1wtf												DOID:11629|ICD9:618.83|ICD10:N81.84																		owl:Class
MONDO:0000413	biolink:NamedThing	infancy electroclinical syndrome	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.	mondoexuq1wtf												DOID:0050703																		owl:Class
MONDO:0011595	biolink:NamedThing	nonsyndromic congenital nail disorder 7		mondoexuq1wtf	COIF|congenital isolated nail dysplasia|isolated congenital onychodysplasia|nail dysplasia, isolated congenital|onychodysplasia, isolated congenital|COIF syndrome|nail disorder, nonsyndromic congenital, 7|congenital onychodysplasia of the index fingers|Iso-Kikuchi syndrome|NDNC7|nonsyndromic congenital nail disorder type 7|isolated congenital nail dysplasia					Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49						Orphanet:79144|SCTID:403281007|DOID:0080085|ICD10:Q84.6|MESH:C538333|GARD:0009761|OMIM:605779|UMLS:C1853984																		owl:Class
MONDO:0004158	biolink:NamedThing	pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma	A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.	mondoexuq1wtf	pancreatic mucinous cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic invasive mucinous cystadenocarcinoma											UMLS:C1518870|ICDO:8470/3|NCIT:C41246|DOID:7236																		owl:Class
MONDO:0032568	biolink:NamedThing	intellectual developmental disorder with macrocephaly, seizures, and speech delay		mondoexuq1wtf	IDDMSSD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY											OMIM:618158																		owl:Class
MONDO:0016787	biolink:NamedThing	epithelioid trophoblastic tumor	An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.	mondoexuq1wtf	epithelioid trophoblastic tumor|ETT											UMLS:C1266159|Orphanet:254698|ICDO:9105/3|DOID:3593|SCTID:609515005|NCIT:C6900|ONCOTREE:ETT|ICD10:D39.2																		owl:Class
MONDO:0012042	biolink:NamedThing	hirschsprung disease, susceptibility to, 8		mondoexuq1wtf	HSCR8|Hirschsprung disease, susceptibility to, 8											OMIM:608462																		owl:Class
MONDO:0008136	biolink:NamedThing	isolated optic nerve hypoplasia		mondoexuq1wtf	optic nerve hypoplasia, familial bilateral|isolated optic nerve hypoplasia/aplasia|familial bilateral optic nerve hypoplasia|optic nerve hypoplasia, bilateral|optic nerve aplasia, bilateral											Orphanet:137902|SCTID:724999003|DOID:0111531|UMLS:C4510723|OMIM:165550|GARD:0008419|ICD10:H47.0|UMLS:C1833797																		owl:Class
MONDO:0017845	biolink:NamedThing	spastic ataxia		mondoexuq1wtf	SPAX											DOID:0050952|UMLS:C1849156|OMIMPS:108600|ICD10:G11.4|Orphanet:316226|MESH:C564815																		owl:Class
MONDO:0043777	biolink:NamedThing	rhinophyma	Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.	mondoexuq1wtf	hypertrophic rosacea|Rhinophymas|rhinophyma											SCTID:19877001|MESH:D012224|UMLS:C0035466|NCIT:C34989																		owl:Class
MONDO:0022832	biolink:NamedThing	congenital heart disease radio ulnar synostosis intellectual disability		mondoexuq1wtf												GARD:0001484														https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation				owl:Class
MONDO:0100114	biolink:NamedThing	dry age related macular degeneration	Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.	mondoexuq1wtf	dry ARMD|dry AMD							http://orcid.org/0000-0001-5208-3432				MEDDRA:10075567																		owl:Class
MONDO:0100157	biolink:NamedThing	Imerslund-Grasbeck syndrome type 2	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).	mondoexuq1wtf	megaloblastic anemia, Norwegian type							http://orcid.org/0000-0001-5208-3432				OMIM:618882																		owl:Class
MONDO:0014065	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 4	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.	mondoexuq1wtf	mitochondrial complex III deficiency, nuclear type 4|mitochondrial Complex 3 deficiency, nuclear type 4|mitochondrial complex III deficiency caused by mutation in UQCRQ|MC3DN4|UQCRQ mitochondrial complex III deficiency											DOID:0080113|OMIM:615159|UMLS:C3554607																		owl:Class
MONDO:0017154	biolink:NamedThing	pulmonary arterial hypertension associated with portal hypertension	Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.	mondoexuq1wtf	Portopulmonary hypertension|POPH|PAH associated with portal hypertension											SCTID:445237003|UMLS:C1868851|EFO:0009197|Orphanet:275813|ICD10:I27.2																		owl:Class
MONDO:0043251	biolink:NamedThing	odontoma	A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.	mondoexuq1wtf	odontoma, benign|ameloblastic fibro-odontoma|fibro-odontoma, ameloblastic|fibro odontoma|fibroodontomas|ameloblastic fibro-odontomas|odontomas|compound odontoma|fibro odontoma, ameloblastic|odontomas, compound|fibro-odontomas|fibro-odontoma|compound odontomas|odontoma, compound|fibroodontoma|fibro-odontomas, ameloblastic|odontoma											NCIT:C3287|GARD:0007247|ICDO:9280/0|MESH:D009810																		owl:Class
MONDO:0000514	biolink:NamedThing	bone squamous cell carcinoma	A squamous cell carcinoma that involves the bone tissue.	mondoexuq1wtf	bone tissue squamous cell carcinoma											DOID:0050896																		owl:Class
MONDO:0018279	biolink:NamedThing	congenital muscular dystrophy without intellectual disability		mondoexuq1wtf	CMD without intellectual disability|CMD-no MR|congenital muscular dystrophy-dystroglycanopathy without intellectual disability											Orphanet:370980|ICD10:G71.2																		owl:Class
MONDO:0000754	biolink:NamedThing	anal fistula	A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.	mondoexuq1wtf	anal fistula (disease)|anal fistula|anorectal fistula		anal fistula (disease)									SCTID:72779005|ICD10:K60.3|Orphanet:228113|NCIT:C60785|MESH:D012003|DOID:0060328|HP:0010447																		owl:Class
MONDO:0010064	biolink:NamedThing	spastic ataxia-corneal dystrophy syndrome	Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.	mondoexuq1wtf	Mousa Al din Al Nassar syndrome|spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Bedouin spastic ataxia syndrome|Mousa-Al Din-Al Nassar syndrome|spastic ataxia-ocular anomalies syndrome											Orphanet:2572|ICD10:G11.8|MESH:C536989|GARD:0003795|OMIM:271320|UMLS:C1849085|SCTID:715465001																		owl:Class
MONDO:0022397	biolink:NamedThing	retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene		mondoexuq1wtf												Orphanet:156168																		owl:Class
MONDO:0013319	biolink:NamedThing	chromosome 4Q32.1-q32.2 triplication syndrome		mondoexuq1wtf	chromosome 4Q32.1-q32.2 triplication syndrome											UMLS:C3150857|OMIM:613603																		owl:Class
MONDO:0014062	biolink:NamedThing	mitochondrial DNA deletion syndrome with progressive myopathy		mondoexuq1wtf	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|mtDNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|PEOA6|mtDNA deletion syndrome with progressive myopathy|mitochondrial DNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6											ICD10:G71.3|UMLS:C3554599|DOID:0111519|OMIM:615156|Orphanet:352470																		owl:Class
MONDO:0018231	biolink:NamedThing	primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments		mondoexuq1wtf	primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments											Orphanet:364531																		owl:Class
MONDO:0007544	biolink:NamedThing	eosinophilia, familial	Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.	mondoexuq1wtf	familial eosinophilia|Eos|eosinophilia, familial											MESH:C562722|GARD:0010521|SCTID:79336007|OMIM:131400														https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia				owl:Class
MONDO:0005309	biolink:NamedThing	spinal fracture	Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.	mondoexuq1wtf	vertebral column bone fracture|bone fracture of vertebral column											MESH:D016103|SCTID:50448004|EFO:0003902																		owl:Class
MONDO:0021496	biolink:NamedThing	benign neoplasm of lip	A benign neoplasm that involves the lip.	mondoexuq1wtf	benign tumor of Lip|lip neoplasm, benign|benign neoplasm of the Lip|benign Lip tumor|benign tumor of the Lip|lip benign neoplasm|benign Lip neoplasm											ICD10:D10.0|SCTID:92185002|ICD9:210.0|UMLS:C0153932|NCIT:C3591																		owl:Class
MONDO:0043358	biolink:NamedThing	engraftment syndrome	A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.	mondoexuq1wtf	engraftment syndrome											SCTID:426768001|UMLS:C0919746|NCIT:C63324|GARD:0011909																		owl:Class
MONDO:0006505	biolink:NamedThing	basal ganglia cerebrovascular disease	A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).	mondoexuq1wtf	collection of basal ganglia cerebrovascular disorder|cerebrovascular disorder of collection of basal ganglia											DOID:10991|EFO:1000640|UMLS:C0751739|MESH:D020144																		owl:Class
MONDO:0011216	biolink:NamedThing	hemochromatosis type 2A	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.	mondoexuq1wtf	hemochromatosis, type 2|HJV hemochromatosis type 2|hemochromatosis type 2 caused by mutation in HJV|hemochromatosis, juvenile|hemochromatosis, type 2A|HFE2A											OMIM:602390|DOID:0111027																		owl:Class
MONDO:0054550	biolink:NamedThing	avascular necrosis of femoral head, primary, 1		mondoexuq1wtf	osteonecrosis of femoral head|avascular necrosis of femoral head, primary, 1|femoral head, aseptic necrosis of|Femoral head, avascular necrosis of|ANFH1|ischemic necrosis of femoral head											OMIM:608805																		owl:Class
MONDO:0008397	biolink:NamedThing	aplasia of lacrimal and salivary glands	Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	mondoexuq1wtf	aplasia of lacrimal and salivary glands|congenital absence of lacrimal puncta and salivary glands|ALSG|parotid aplasia or hypoplasia|salivary glands, absence of|salivary glands, absence of, include											OMIM:180920|ICD10:Q38.4|Orphanet:86815|ICD10:Q10.4|SCTID:715656004|DOID:0111549																		owl:Class
MONDO:0043468	biolink:NamedThing	acne keloid	A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.	mondoexuq1wtf	nuchae, lichen Keloidalis|dermatitis papillaris Capillitii|keloids, acne|keloidal acne|Capillitii, dermatitis papillaris|nuchal keloid Acnes|folliculitis Keloidalis|folliculitis Keloidalis nuchae|lichen Keloidalis nuchae|Keloidalis nuchae, lichen|Keloidalis nuchae, folliculitis|keloid, acne|acne keloid|keloid Acnes, nuchal|acne keloids|keloidal folliculitis|nuchal keloid acne|dermatitis papillaris Capillitius|papillaris Capillitius, dermatitis|keloid acne, nuchal|nuchae, folliculitis Keloidalis|acne Keloidalis|acne, keloidal|acne, nuchal keloid|keloidal Acnes|papillaris Capillitii, dermatitis|Capillitius, dermatitis papillaris|Acnes, nuchal keloid											NCIT:C34346|SCTID:238746008|UMLS:C0001145|MESH:D000153|EFO:1001256																		owl:Class
MONDO:0017903	biolink:NamedThing	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	mondoexuq1wtf	IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency											UMLS:CN203963|ICD10:D84.8|Orphanet:319589																		owl:Class
MONDO:0006865	biolink:NamedThing	necrotizing ulcerative gingivitis	A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.	mondoexuq1wtf	Vincent's disease|acute necrotizing ulcerative gingivitis|acute necrotising ulcerative gingivostomatitis|Vincent's infection, any site|acute necrotizing ulcerative gingivostomatitis|Fusospirillary gingivitis|phagedenic gingivitis|acute membranous gingivitis|early acute necrotising gingivitis|acute necrotising ulcerative gingivostomatitis [ambiguous]|acute ulceromembranous gingivitis|Vincent's infection|acute necrotising ulcerative gingivitis|Vincent's gingivitis|Vincent's angina - pharyngitis|Vincent's angina|acute necrotising ulcerative gingivitis [ambiguous]|ANUG|Vincent's stomatitis|Fusospirillosis|trench mouth|angina - Vincents|Vincent angina											COHD:26908|MESH:D005892|DOID:13924|EFO:1001058|ICD10:A69.1|SCTID:186963008|NCIT:C34637|GARD:0005736|ICD9:101|UMLS:C0017575																		owl:Class
MONDO:0022405	biolink:NamedThing	retinal ciliopathy due to mutation in nephronophthisis gene		mondoexuq1wtf												Orphanet:156180																		owl:Class
MONDO:0008998	biolink:NamedThing	Cockayne syndrome type 3	Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.	mondoexuq1wtf	Cockayne syndrome type C|Cockayne syndrome, type III|Cockayne syndrome type III|Cockayne syndrome type 3					Editor note: consider obsoletion. obsolete in OMIM. No info in GHR						GARD:0001417|ICD10:Q87.8|Orphanet:90324														https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii				owl:Class
MONDO:0015711	biolink:NamedThing	specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells		mondoexuq1wtf												ICD10:D80.6|Orphanet:169443																		owl:Class
MONDO:0012386	biolink:NamedThing	trichoscyphodysplasia		mondoexuq1wtf	metaphyseal chondrodysplasia with ectodermal dysplasia|Trichoscyphodysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia|cupped metaphyses and cone-Shaped epiphyses with alopecia											MESH:C536557|OMIM:609990|UMLS:C1864943|GARD:0009861														https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia				owl:Class
MONDO:0018031	biolink:NamedThing	granulomatous slack skin disease	Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.	mondoexuq1wtf	granulomatous slack skin											UMLS:C0376407|NCIT:C35464|ICD10:C84.0|GARD:0010986|Orphanet:33111|SCTID:277796003																		owl:Class
MONDO:0010084	biolink:NamedThing	sucrosuria, hiatus hernia and intellectual disability		mondoexuq1wtf	sucrosuria, hiatus hernia and mental retardation|sucrosuria, hiatus hernia and intellectual disability											UMLS:C1848963|OMIM:272000|MESH:C564792																		owl:Class
MONDO:0011710	biolink:NamedThing	specific language impairment 1		mondoexuq1wtf	SLI1|specific language impairment 1|specific language impairment quantitative trait locus on chromosome 16											UMLS:C1847614|OMIM:606711																		owl:Class
MONDO:0010484	biolink:NamedThing	deafness, X-linked 6	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.	mondoexuq1wtf	X-linked nonsyndromic deafness caused by mutation in COL4A6|COL4A6 X-linked nonsyndromic deafness|deafness, X-linked type 6|DFNX6|deafness, X-linked 6											DOID:0111740|OMIM:300914|UMLS:C3806737																		owl:Class
MONDO:0009250	biolink:NamedThing	fructose utilization		mondoexuq1wtf	fructose utilization											OMIM:229650																		owl:Class
MONDO:0020418	biolink:NamedThing	dysphagia lusoria		mondoexuq1wtf												Orphanet:99082|UMLS:C0267073|ICD10:Q25.4|ICD9:787.29|SCTID:231719009																		owl:Class
MONDO:0014524	biolink:NamedThing	intellectual disability, autosomal recessive 47	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.	mondoexuq1wtf	mental retardation, autosomal recessive type 47|MRT47|intellectual disability, autosomal recessive 47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2|intellectual disability, autosomal recessive type 47|mental retardation, autosomal recessive 47|FMN2 autosomal recessive non-syndromic intellectual disability											OMIM:616193|UMLS:C4015444																		owl:Class
MONDO:0032698	biolink:NamedThing	neurodevelopmental disorder with central and peripheral motor dysfunction		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION|NEDCPMD											OMIM:618356																		owl:Class
MONDO:0033537	biolink:NamedThing	combined oxidative phosphorylation deficiency 47		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47|COXPD47											OMIM:618958																		owl:Class
MONDO:0020307	biolink:NamedThing	benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	mondoexuq1wtf	early-onset benign childhood occipital epilepsy|Panayiotopoulos syndrome											ICD9:345.80|SCTID:230387008|Orphanet:98815|ICD10:G40.0|UMLS:CN207127																		owl:Class
MONDO:0004549	biolink:NamedThing	cork-handlers' disease	An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.	mondoexuq1wtf	cork-handlers' lung|cork-handlers' disease or lung|Suberosis|cork worker's lung											DOID:840|ICD9:495.3|UMLS:C0152108|ICD10:J67.3|COHD:443890|SCTID:13394002																		owl:Class
MONDO:0006829	biolink:NamedThing	leukemoid reaction	A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.	mondoexuq1wtf						Represents a finding, may be obsoleted.						EFO:1001014|MESH:D007955|COHD:432283|ICD9:288.62|UMLS:C0023501|ICD10:D72.823|SCTID:56478004|MedDRA:10024373|ICD9:288.8																		owl:Class
MONDO:0022622	biolink:NamedThing	CDG syndrome type 4		mondoexuq1wtf												GARD:0001174														https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4				owl:Class
MONDO:0020504	biolink:NamedThing	genetic recurrent myoglobinuria	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	mondoexuq1wtf												SCTID:716721003|Orphanet:99845|ICD10:R82.1																		owl:Class
MONDO:0009334	biolink:NamedThing	hemolytic anemia with thermal sensitivity of red cells		mondoexuq1wtf	hemolytic anemia with thermal sensitivity of red cells											OMIM:235370|UMLS:C1856158|MESH:C565522																		owl:Class
MONDO:0017885	biolink:NamedThing	chromophobe renal cell carcinoma	Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.	mondoexuq1wtf	chromophobe adenocarcinoma|chromophobe renal cell carcinoma|chromophobe cell carcinoma of the kidney|CRCC|chromophobe renal cell adenocarcinoma|chromophobe carcinoma|renal cell carcinoma, chromophobe cell|chromophobe carcinoma of kidney|chromophobe carcinoma of the kidney|chromophobe renal cell cancer|ChRCC|kidney chromophobe|renal cell carcinoma, chromophobe type|chromophobe cell carcinoma of kidney|CHRCC											UMLS:C1266042|ICDO:8317/3|UMLS:C3887514|ONCOTREE:CHRCC|ICD10:C64|Orphanet:319303|GARD:0006064|NCIT:C4146|ICDO:8270/3|DOID:4471|EFO:0000335|SCTID:733471003														https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma				owl:Class
MONDO:0025263	biolink:NamedThing	strongyle infections, equine	Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.	mondoexuq1wtf	Strongylosis, equine|equine Strongyloses|Strongyloses, equine|equine Strongylosis|equine strongyle infections|strongyle infection, equine|infection, equine strongyle|infections, equine strongyle|equine strongyle infection											MESH:D013319|UMLS:C0038459																		owl:Class
MONDO:0025082	biolink:NamedThing	helminthiasis, animal	Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.	mondoexuq1wtf	Helminthiases, animal|animal helminthiasis|animal Helminthiases											UMLS:C0018891|MESH:D006374																		owl:Class
MONDO:0003289	biolink:NamedThing	deep leiomyoma	A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	deep leiomyoma											NCIT:C6512|UMLS:C1333266|DOID:5128																		owl:Class
MONDO:0001272	biolink:NamedThing	functional diarrhea		mondoexuq1wtf												UMLS:C0156173|COHD:80141|ICD9:564.5|DOID:11371|ICD10:K59.1|SCTID:47812002																		owl:Class
MONDO:0008142	biolink:NamedThing	Thiemann disease, familial form	Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.	mondoexuq1wtf	Thiemann's disease|Thiemann epiphyseal disease|osteoarthropathy of fingers familial|Osteochondrosis of phalangeal epiphyses|osteochondritis of phalangeal epiphyses|aseptic necrosis of phalangeal epiphyses|osteoarthropathy of fingers, familial|THIEMANN disease											ICD10:M93.2|SCTID:55166000|Orphanet:3314|GARD:0004131|ICD9:716.84|OMIM:165700|UMLS:C0264081|MESH:C537144																		owl:Class
MONDO:0020454	biolink:NamedThing	congenital complete agenesis of pericardium	Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.	mondoexuq1wtf												Orphanet:99129|ICD10:Q24.8																		owl:Class
MONDO:0019364	biolink:NamedThing	pseudotyphus of California	Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.	mondoexuq1wtf												SCTID:764104003|ICD10:A79.8|Orphanet:83316																		owl:Class
MONDO:0005139	biolink:NamedThing	morbid obesity	An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.	mondoexuq1wtf	severe obesity											NIFSTD:nlx_dys_20090303|ICD9:278.01|DOID:11981|UMLS:C0028756|SCTID:83911000119104|MESH:D009767|EFO:0001074|COHD:434005																		owl:Class
MONDO:0010462	biolink:NamedThing	syndromic X-linked intellectual disability Chudley-Schwartz type	A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.	mondoexuq1wtf	intellectual disability, X-linked, syndromic, Chudley-Schwartz type|mental retardation, X-linked, syndromic, Chudley-Schwartz type|MRXSCS|X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance											UMLS:C3275471|DOID:0060819|OMIM:300861																		owl:Class
MONDO:0002821	biolink:NamedThing	trabecular follicular adenocarcinoma		mondoexuq1wtf	follicular adenocarcinoma, trabecular (morphologic abnormality)|follicular adenocarcinoma, trabecular|trabecular follicular carcinoma											UMLS:C0334327|DOID:3964																		owl:Class
MONDO:0003931	biolink:NamedThing	childhood optic tract astrocytoma	An astrocytoma that arises from the visual pathway and occurs during childhood.	mondoexuq1wtf	childhood optic tract astrocytoma|childhood visual pathway astrocytoma|optic tract astrocytoma of childhood|pediatric optic tract astrocytoma|pediatric visual pathway astrocytoma											UMLS:C1333014|NCIT:C7534|DOID:6575																		owl:Class
MONDO:0009511	biolink:NamedThing	Larsen-like syndrome, B3GAT3 type	Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	mondoexuq1wtf	Larsen syndrome, autosomal recessive|multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|Larsen syndrome, autosomal recessive, formerly|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|JDSCD|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome											OMIM:245600|ICD10:Q74.8|Orphanet:284139|DOID:0080575|MESH:C537874																		owl:Class
MONDO:0012452	biolink:NamedThing	autosomal recessive nonsyndromic deafness 65	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 65|deafness, autosomal recessive 65|autosomal recessive deafness 65|DFNB65											DOID:0110516|UMLS:C1853248|MESH:C565211|OMIM:610248|ICD10:H90.3																		owl:Class
MONDO:0008507	biolink:NamedThing	surface polypeptides, anonymous		mondoexuq1wtf	Spa2|surface polypeptides, anonymous|Spa5											OMIM:185610																		owl:Class
MONDO:0017486	biolink:NamedThing	radial hemimelia, unilateral		mondoexuq1wtf	radial longitidinal meromelia, unilateral											Orphanet:295069|ICD10:Q71.4																		owl:Class
MONDO:0003827	biolink:NamedThing	transient hypogammaglobulinemia	A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.	mondoexuq1wtf												DOID:625|UMLS:C0859960|NCIT:C27319																		owl:Class
MONDO:0014113	biolink:NamedThing	cardiofaciocutaneous syndrome 3	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.	mondoexuq1wtf	cardiofaciocutaneous syndrome type 3|MAP2K1 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome caused by mutation in MAP2K1|CFC3											UMLS:C3809006|OMIM:615279|DOID:0111462																		owl:Class
MONDO:0011611	biolink:NamedThing	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting		mondoexuq1wtf	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting											MESH:C566989|UMLS:C1970039|OMIM:605856																		owl:Class
MONDO:0002265	biolink:NamedThing	stereotypic movement disorder	Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)	mondoexuq1wtf	stereotypy habit disorder|stereotyped repetitive movements|stereotyped repetitive movements NOS (finding)											ICD10:F98.4|DOID:2303|MESH:D019956|COHD:4207660|SCTID:5507002|ICD9:307.3																		owl:Class
MONDO:0036918	biolink:NamedThing	punctate acrokeratoderma freckle-like pigmentation		mondoexuq1wtf												Orphanet:99710																		owl:Class
MONDO:0016477	biolink:NamedThing	Beckwith-Wiedemann syndrome due to 11p15 microdeletion		mondoexuq1wtf												Orphanet:231127|UMLS:CN201472|ICD10:Q87.3																		owl:Class
MONDO:0000918	biolink:NamedThing	endometritis	An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.	mondoexuq1wtf	uterine infection|endometrium inflammation|inflammation of endometrium											DOID:1002|UMLS:C0014179|MESH:D004716|SCTID:78623009|EFO:1001312|NCIT:C26764																		owl:Class
MONDO:0054732	biolink:NamedThing	spermatogenic failure 28		mondoexuq1wtf	SPGF28|spermatogenic failure 28											OMIM:618086																		owl:Class
MONDO:0004135	biolink:NamedThing	subacute lymphocytic thyroiditis	Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.	mondoexuq1wtf	silent thyroiditis|Subacute lymphocytic thyroiditis|Subacute painless thyroiditis											UMLS:C1306804|DOID:7187|UMLS:C0271814|SCTID:361126006|NCIT:C35829																		owl:Class
MONDO:0019730	biolink:NamedThing	light chain deposition disease	Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.	mondoexuq1wtf	Light chain gammopathy|Light chain disease|Bence Jones myeloma|Light-chain deposition disease|LCDD											ICD10:D89.8|GARD:0006906|SCTID:373604002|UMLS:C0238239|Orphanet:93558|NCIT:C7727														https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease				owl:Class
MONDO:0018653	biolink:NamedThing	Polymerase proofreading-related adenomatous polyposis		mondoexuq1wtf	PPAP											NCIT:C162484|Orphanet:447877|ICD10:D12.6																		owl:Class
MONDO:0010939	biolink:NamedThing	low phospholipid associated cholelithiasis	Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.	mondoexuq1wtf	gallbladder disease 1|cholelithiasis with ABCB4 gene mutation|cholelithiasis, Low phospholipid-associated|ABCB4 gene mutation-associated cholelithiasis|LPAC|GBD1|gallbladder disease type 1											Orphanet:69663|MedDRA:10068936|SCTID:715577009|UMLS:C2609268|OMIM:600803																		owl:Class
MONDO:0010825	biolink:NamedThing	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	mondoexuq1wtf	Houlston-Ironton-Temple syndrome|atrioventricular septal defect with blepharophimosis and anal and radial defects											Orphanet:1352|OMIM:600123|UMLS:C1838606|ICD10:Q87.8|MESH:C563994																		owl:Class
MONDO:0006185	biolink:NamedThing	ductal or ductular proliferation	A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver.	mondoexuq1wtf						Editor note: consider obsoleting						EFO:1000222																		owl:Class
MONDO:0008508	biolink:NamedThing	symphalangism, C. S. Lewis type		mondoexuq1wtf	thumbs, stiff|symphalangism, C. S. Lewis type											MESH:C566100|UMLS:C1861404|OMIM:185650																		owl:Class
MONDO:0009389	biolink:NamedThing	hyperlysinemia due to defect in lysine transport into mitochondria		mondoexuq1wtf	hyperlysinemia due to defect in lysine TRANSPORT into mitochondria											MESH:C565499|UMLS:C1855927|OMIM:238710																		owl:Class
MONDO:0006749	biolink:NamedThing	mixed epithelioid and spindle cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.	mondoexuq1wtf	mixed epithelioid and spindle cell melanoma											SCTID:254811006|MESH:D018332|NCIT:C66756|ICDO:8770/3|EFO:1000925																		owl:Class
MONDO:0045051	biolink:NamedThing	cortical cataract	A cataract (disease) that involves the lens cortex.	mondoexuq1wtf	cataract (disease) of lens cortex|lens cortex cataract (disease)											SCTID:193576003|ICD9:366.03																		owl:Class
MONDO:0016437	biolink:NamedThing	late-onset focal dermal elastosis	Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	mondoexuq1wtf	PXE-like late-onset focal dermal elastosis|pseudoxanthoma-like late-onset focal dermal elastosis											Orphanet:228227																		owl:Class
MONDO:0013683	biolink:NamedThing	vesicoureteral reflux 5		mondoexuq1wtf	VUR5|vesicoureteral reflux 5											UMLS:C3280440|OMIM:614318																		owl:Class
MONDO:0013132	biolink:NamedThing	hereditary spastic paraplegia 36	Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.	mondoexuq1wtf	hereditary spastic paraplegia type 36|spastic paraplegia 36, autosomal dominant|SPG36|autosomal dominant spastic paraplegia 36|autosomal dominant spastic paraplegia type 36											UMLS:C2936879|OMIM:613096|MESH:C567930|SCTID:723819007|Orphanet:320365|UMLS:C4510078|DOID:0110787|ICD10:G11.4																		owl:Class
MONDO:0011938	biolink:NamedThing	atrial septal defect 2	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.	mondoexuq1wtf	atrial heart septal defect caused by mutation in GATA4|GATA4 atrial heart septal defect|atrial heart septal defect type 2|ASD2|atrial septal defect type 2|atrial septal defect 2											MESH:C538263|DOID:0110107|UMLS:C1842778|ICD10:Q21.1|OMIM:607941																		owl:Class
MONDO:0023035	biolink:NamedThing	Eagle syndrome	Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.	mondoexuq1wtf	elongated styloid process syndrome|styloid-stylohoid syndrome|elongated styloid process which causes cervico facial pain tinnitus and otalgia|Eagle's syndrome											SCTID:609143007|ICD9:733.99|MESH:C538010|GARD:0009401														https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome				owl:Class
MONDO:0004343	biolink:NamedThing	pancreatic acinar cell cystadenocarcinoma	A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.	mondoexuq1wtf	acinar cell cystadenocarcinoma|pancreatic acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma of the pancreas											NCIT:C5727|UMLS:C1266087|ICDO:8551/3|DOID:7729																		owl:Class
MONDO:0023178	biolink:NamedThing	fragile X syndrome type 1		mondoexuq1wtf												GARD:0002366														https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1				owl:Class
MONDO:0018047	biolink:NamedThing	familial thrombomodulin anomalies		mondoexuq1wtf	thrombomodulin anomalies, familial											ICD10:D68.8|UMLS:C2931365|HGNC:11784|Orphanet:3324|MESH:C536900|GARD:0005195														https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial				owl:Class
MONDO:0011487	biolink:NamedThing	Huntington disease-like 3	Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.	mondoexuq1wtf	Huntington disease-like neurodegenerative disorder, autosomal recessive|HDL3|Huntington disease-like type 3|Huntington disease-like 3											UMLS:C1858114|Orphanet:157946|OMIM:604802|ICD10:G10|MESH:C565747																		owl:Class
MONDO:0016196	biolink:NamedThing	qualitative or quantitative defects of emerin		mondoexuq1wtf												Orphanet:209188																		owl:Class
MONDO:0011439	biolink:NamedThing	spinocerebellar ataxia type 12	Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.	mondoexuq1wtf	spinocerebellar ataxia 12|SCA12|spinocerebellar ataxia type 12											NCIT:C154316|MESH:C565790|GARD:0010476|ICD10:G11.2|DOID:0050962|Orphanet:98762|UMLS:C4304885|OMIM:604326|UMLS:C1858501|SCTID:719208005																		owl:Class
MONDO:0006410	biolink:NamedThing	simple endometrial hyperplasia	A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.	mondoexuq1wtf												SCTID:198324001|UMLS:C0456483|COHD:199886|NCIT:C35463|EFO:1000525|ICD9:621.31																		owl:Class
MONDO:0008499	biolink:NamedThing	short stature-wormian bones-dextrocardia syndrome	Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.	mondoexuq1wtf	short stature wormian bones dextrocardia|Stratton Parker syndrome|Stratton-Parker syndrome|STRATTON-PARKER syndrome|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly											ICD10:Q87.1|Orphanet:2863|OMIM:185120|MESH:C566105|SCTID:763631006|UMLS:C1861448|GARD:0004856																		owl:Class
MONDO:0002108	biolink:NamedThing	thyroid cancer	A malignant neoplasm involving the thyroid gland	mondoexuq1wtf	malignant tumor of thyroid gland|thyroid gland cancer|malignant neoplasm of thyroid gland|malignant thyroid tumor|malignant neoplasm of thyroid|malignant neoplasm of the thyroid|malignant thyroid gland neoplasm|malignant tumor of the thyroid gland|malignant thyroid neoplasm|neoplasm of thyroid gland|malignant tumour of thyroid gland|malignant tumor of the thyroid|cancer of thyroid gland|malignant thyroid gland tumor|malignant tumor of thyroid|thyroid gland neoplasm|malignant neoplasm of the thyroid gland											ICD9:193|KEGG:05216|ICD10:C73|UMLS:CN221577|COHD:4178976|NCIT:C7510|DOID:1781|SCTID:363478007																		owl:Class
MONDO:0014327	biolink:NamedThing	autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering		mondoexuq1wtf	palmoplantar keratoderma, nonepidermolytic, focal or diffuse|PPKNEFD											ICD10:Q82.8|OMIM:615735|Orphanet:402003|UMLS:C3810394																		owl:Class
MONDO:0032798	biolink:NamedThing	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features		mondoexuq1wtf	IKSHD|ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES											OMIM:618527																		owl:Class
MONDO:0006739	biolink:NamedThing	Ehrlich tumor carcinoma	A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.	mondoexuq1wtf	Ehrlich's tumor											MESH:D002286|DOID:5050|EFO:1000913|UMLS:C0007125																		owl:Class
MONDO:0009169	biolink:NamedThing	endocardial fibroelastosis	Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.	mondoexuq1wtf	endocardial fibroelastosis|EFE|Elastomyofibrosis|endomyocardial fibroelastosis					Editor notes: ORDO classifies as both familial and non-familial						MESH:D004695|DOID:12929|ICD10:I42.4|OMIM:226000|NCIT:C98922|UMLS:C0014117|EFO:0007251|MedDRA:10014663|Orphanet:2022|GARD:0006336|SCTID:65457005|ICD9:425.3|COHD:314370														https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis				owl:Class
MONDO:0020456	biolink:NamedThing	pleuro-pericardial cyst	Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.	mondoexuq1wtf												ICD10:Q24.8|Orphanet:99131																		owl:Class
MONDO:0018936	biolink:NamedThing	osteoblastoma	A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.	mondoexuq1wtf	osteoblastoma (disease)|osteoblastoma, benign|giant osteoid osteoma|osteoblastoma|ossifying giant cell tumor		osteoblastoma (disease)									ICD10:D16.8|MedDRA:10004430|HP:0011846|Orphanet:58040|UMLS:C0029417|ICD10:D16.5|ICD10:D16.3|EFO:1000410|ICD10:D16.7|ICD10:D16.1|ICD10:D16.6|ICD10:D16.4|ICDO:9200/0|MESH:D018215|DOID:0060098|ICD10:D16.0|NCIT:C3294																		owl:Class
MONDO:0018483	biolink:NamedThing	secondary pulmonary alveolar proteinosis	A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.	mondoexuq1wtf	SPAP|secondary PAP					Editor note: TODO DP for secondary diseases						ICD10:J84.0|SCTID:707510005|Orphanet:420259|UMLS:C3873302																		owl:Class
MONDO:0056817	biolink:NamedThing	rectal adenosquamous carcinoma	An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	mondoexuq1wtf	rectal adenosquamous cancer|rectal adenosquamous carcinoma											UMLS:C1709865|NCIT:C43594																		owl:Class
MONDO:0016977	biolink:NamedThing	moderately-differentiated thymic neuroendocrine carcinoma		mondoexuq1wtf												UMLS:CN202279|Orphanet:263335|ICD10:C37																		owl:Class
MONDO:0010166	biolink:NamedThing	ulnar agenesis and endocardial fibroelastosis		mondoexuq1wtf	ulnar agenesis and endocardial fibroelastosis											MESH:C564756|OMIM:276822|UMLS:C1848649																		owl:Class
MONDO:0010583	biolink:NamedThing	Dyggve-Melchior-Clausen syndrome, X-linked	X-linked form of Dyggve-Melchior-Clausen disease.	mondoexuq1wtf	Dyggve-Melchior-Clausen syndrome, X-linked|X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen disease, X-linked											UMLS:C1844654|OMIM:304950																		owl:Class
MONDO:0013150	biolink:NamedThing	parkinsonism-dystonia, infantile	Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	mondoexuq1wtf	PARKINSONISM-dystonia, infantile|infantile Parkinsonism-dystonia|dopamine transporter deficiency syndrome|Parkinsonism-dystonia infantile|PKDYS|IPD											GARD:0010484|OMIMPS:613135|UMLS:C2751067|NCIT:C129866|SCTID:722763000|Orphanet:238455|MESH:C567730														https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia				owl:Class
MONDO:0012987	biolink:NamedThing	agammaglobulinemia 6, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.	mondoexuq1wtf	autosomal agammaglobulinemia caused by mutation in CD79B|CD79B autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to Cd79B defect|AGM6|agammaglobulinemia 6, autosomal recessive											OMIM:612692|UMLS:C3150207																		owl:Class
MONDO:0016572	biolink:NamedThing	central bilateral macrogyria	Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.	mondoexuq1wtf												UMLS:C4303949|ICD10:Q04.8|Orphanet:2431|SCTID:720632004																		owl:Class
MONDO:0032591	biolink:NamedThing	hyperparathyroidism, transient neonatal		mondoexuq1wtf	HRPTTN|hyperparathyroidism, transient neonatal											OMIM:618188																		owl:Class
MONDO:0010903	biolink:NamedThing	craniosynostosis, Adelaide type		mondoexuq1wtf	craniosynostosis, Adelaide type|CRSA											UMLS:C1833578|MESH:C563471|OMIM:600593																		owl:Class
MONDO:0001611	biolink:NamedThing	phlegmonous dacryocystitis		mondoexuq1wtf												DOID:12997|ICD9:375.33|ICD10:H04.31|UMLS:C0155238|SCTID:64324003																		owl:Class
MONDO:0014111	biolink:NamedThing	cataract 19 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.	mondoexuq1wtf	LIM2 early-onset non-syndromic cataract|cataract type 19|CTRCT19|early-onset non-syndromic cataract caused by mutation in LIM2|cataract 19, multiple types|cataract 19											DOID:0110263|UMLS:C3809004|ICD10:Q12.0|OMIM:615277																		owl:Class
MONDO:0009204	biolink:NamedThing	lethal faciocardiomelic dysplasia	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.	mondoexuq1wtf	faciocardiomelic dysplasia lethal|faciocardiomelic dysplasia, lethal											UMLS:C1856891|OMIM:227270|ICD10:Q87.8|MESH:C565578|Orphanet:1972|SCTID:719400000|GARD:0002229														https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal				owl:Class
MONDO:0020814	biolink:NamedThing	miliaria alba		mondoexuq1wtf												SCTID:201191004																		owl:Class
MONDO:0011391	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.	mondoexuq1wtf	MLC|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy syndrome|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukodystrophy|MLC1|megalencephalic leukoencephalopathy with subcortical cysts 1|megalencephaly-cystic leukodystrophy|megalencephalic leukoencephalopathy with subcortical cysts type 1											SCTID:703536004|MESH:C536141|Orphanet:2478|ICD10:E75.2|DOID:0080315|GARD:0003445|UMLS:CN176898														https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts				owl:Class
MONDO:0030707	biolink:NamedThing	Trichomonas balanoposthitis		mondoexuq1wtf	Trichomonas balanoposthitis											UMLS:C0341769|NCIT:C35406																		owl:Class
MONDO:0010594	biolink:NamedThing	inherited genitourinary tract anomalies		mondoexuq1wtf	genitourinary tract anomalies|inherited genitourinary tract anomalies (disease)		inherited genitourinary tract anomalies (disease)									OMIM:305690|HP:0000119|MESH:C564424																		owl:Class
MONDO:0005488	biolink:NamedThing	adolescent idiopathic scoliosis	A scoliosis with no known cause arising in adolescent.	mondoexuq1wtf												EFO:0005423|SCTID:203646004																		owl:Class
MONDO:0008225	biolink:NamedThing	normokalemic periodic paralysis		mondoexuq1wtf	periodic paralysis type 3|NormoKPP|potassium-sensitive normokalemic periodic paralysis|normokalemic PP|normokalemic periodic paralysis					Editor note: NCIT says SNC4A, check this						NCIT:C122791|OMIM:170600|GARD:0004009|Orphanet:680|UMLS:C0268445|SCTID:40381009																		owl:Class
MONDO:0014616	biolink:NamedThing	Skint1-like pseudogene		mondoexuq1wtf	SKINT1-like pseudogene|SKINTL|Skintp|Skint1L|Skint1-like pseudogene											OMIM:616392																		owl:Class
MONDO:0016350	biolink:NamedThing	hydrocephalus-blue sclerae-nephropathy syndrome	Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	mondoexuq1wtf	Daentl-Townsend-Siegel syndrome											ICD10:Q87.8|Orphanet:2186																		owl:Class
MONDO:0000981	biolink:NamedThing	Histoplasma pericarditis	An pericarditis (disease) caused by infection with Histoplasma.	mondoexuq1wtf	histoplasmosis with pericarditis|Histoplasma caused pericarditis (disease)|Histoplasma pericarditis (disease)|acute Histoplasma pericarditis|histoplasmosis pericarditis											DOID:10234|SCTID:187059008|UMLS:C0153279|ICD9:115.93																		owl:Class
MONDO:0004566	biolink:NamedThing	postgastrectomy syndrome	Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.	mondoexuq1wtf	postgastric surgery syndrome											DOID:8439|UMLS:C0032763|SCTID:80193009|ICD9:564.2|ICD10:K91.1|MESH:D011178																		owl:Class
MONDO:0015689	biolink:NamedThing	myeloid neoplasm associated with PDGFRA rearrangement	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	mondoexuq1wtf	myeloid/lymphoid neoplasm associated with PDGFRA rearrangement											SCTID:738527001|UMLS:C4545381|ICD10:D47.1|Orphanet:168947																		owl:Class
MONDO:0013687	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 12	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	mondoexuq1wtf	spinocerebellar ataxia with mental retardation and epilepsy|spinocerebellar ataxia, autosomal recessive 12|spinocerebellar ataxia, autosomal recessive type 12|WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|SCAR12|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia with intellectual disability and epilepsy|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency											UMLS:C3280452|OMIM:614322|Orphanet:284282|DOID:0080060|ICD10:G11.1																		owl:Class
MONDO:0010866	biolink:NamedThing	infantile osteopetrosis with neuroaxonal dysplasia	This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	mondoexuq1wtf	osteopetrosis and infantile neuroaxonal dystrophy											Orphanet:85179|ICD10:Q78.2|MESH:C536055|OMIM:600329|SCTID:724226009|UMLS:C1838258|GARD:0010082																		owl:Class
MONDO:0018839	biolink:NamedThing	acquired schizencephaly	An instance of schizencephaly that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired schizencephaly											UMLS:CN776925|Orphanet:485275																		owl:Class
MONDO:0010011	biolink:NamedThing	schizencephaly	Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.	mondoexuq1wtf	schizencephaly											ICD9:742.4|ICD10:Q04.6|SCTID:253159001|OMIM:269160|Orphanet:799|GARD:0000166|NCIT:C99056																		owl:Class
MONDO:0022700	biolink:NamedThing	cerebral palsy spastic monoplegic		mondoexuq1wtf	spastic monoplegic cerebral palsy|spastic monoplegia cerebral palsy											GARD:0010446														https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic				owl:Class
MONDO:0009940	biolink:NamedThing	pycnodysostosis	Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.	mondoexuq1wtf	pycnodysostosis|Pyknodysostosis|PKND|Pycd											ICD10:Q78.8|GARD:0004611|SCTID:89647000|Orphanet:763|MESH:D058631|OMIM:265800|DOID:0080038|NCIT:C131187|UMLS:C0238402														https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis				owl:Class
MONDO:0009100	biolink:NamedThing	IDDM 1		mondoexuq1wtf	diabetes mellitus, insulin-dependent, 1|insulin-dependent diabetes mellitus 1|juvenile-onset diabetes|IDDM1|diabetes mellitus, insulin-dependent|IDDM|diabetes mellitus, type 1											OMIM:222100																		owl:Class
MONDO:0014676	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.	mondoexuq1wtf	EDMD3|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy|autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|EMERY-Dreifuss muscular dystrophy 3, autosomal recessive											MESH:C567633|DOID:0070248|OMIM:616516|UMLS:C2750035																		owl:Class
MONDO:0009195	biolink:NamedThing	erythema of acral regions		mondoexuq1wtf	erythema of acral regions											OMIM:227000																		owl:Class
MONDO:0004630	biolink:NamedThing	substance-induced psychosis		mondoexuq1wtf												DOID:8646|ICD9:293.89																		owl:Class
MONDO:0016357	biolink:NamedThing	dysplastic cortical hyperostosis		mondoexuq1wtf	Kozlowski-Tsuruta syndrome											ICD10:M89.8|Orphanet:2204|UMLS:CN201209|GARD:0002022														https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis				owl:Class
MONDO:0000249	biolink:NamedThing	secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	mondoexuq1wtf												SCTID:15699003|DOID:0050129|HP:0005208|UMLS:C0267557																		owl:Class
MONDO:0018621	biolink:NamedThing	lymphoplasmacytic lymphoma without IgM production		mondoexuq1wtf	lymphoplasmacytic lymphoma without Immunoglobulin M production											Orphanet:443159|ICD10:C83.0																		owl:Class
MONDO:0016947	biolink:NamedThing	partial duplication of the short arm of chromosome 10		mondoexuq1wtf	partial trisomy of the short arm of chromosome 10|partial trisomy of chromosome 10p|partial duplication of chromosome 10p											Orphanet:262776																		owl:Class
MONDO:0021494	biolink:NamedThing	benign neoplasm of parotid gland	A benign neoplasm that involves the parotid gland.	mondoexuq1wtf	benign parotid neoplasm|benign neoplasm of the parotid|benign tumor of parotid gland|benign tumor of parotid|benign neoplasm of the parotid gland|benign neoplasm of parotid|benign parotid gland neoplasm|parotid gland benign neoplasm|benign tumor of the parotid gland|benign parotid tumor|benign tumor of the parotid|benign parotid gland tumor											SCTID:92279000|UMLS:C0496857|NCIT:C4770|ICD10:D11.0																		owl:Class
MONDO:0022308	biolink:NamedThing	corticobasal degeneration disorder	A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.	mondoexuq1wtf	CBGD|corticodentatonigral degeneration with neuronal achromasia|corticobasal syndrome|cortical basal ganglionic Degeneration|corticobasal degeneration|cortical basal ganglionic degeneration|cortico-basal ganglionic Degeneration (CBGD)|cortical-basal ganglionic degeneration											GARD:0000046|NCIT:C129069														https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration				owl:Class
MONDO:0004509	biolink:NamedThing	intrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.	mondoexuq1wtf	intrahepatic bile duct papillomatosis|intrahepatic bile duct papillary neoplasm|intrahepatic biliary papillomatosis											UMLS:C1334258|NCIT:C7125|DOID:8230																		owl:Class
MONDO:0012561	biolink:NamedThing	congenital anomalies of kidney and urinary tract 1	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.	mondoexuq1wtf	congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|DSTYK congenital anomaly of kidney and urinary tract|CAKUT1|congenital anomalies of kidney and urinary tract 1|renal hypodysplasia, nonsyndromic, 1											UMLS:C1835826|MESH:C563661|DOID:0080206|OMIM:610805																		owl:Class
MONDO:0007784	biolink:NamedThing	selective pituitary resistance to thyroid hormone	Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.	mondoexuq1wtf	pituitary resistance to thyroid hormone|thyroid hormone resistance, selective pituitary|PRTH|hyperthyroidism, familial, due to inappropriate thyrotropin secretion											OMIM:145650|Orphanet:165994|UMLS:C1840364|ICD10:E05.8|MESH:C564154|DOID:0111374																		owl:Class
MONDO:0100423	biolink:NamedThing	acute myeloid leukemia, PTPN11 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)	mondoexuq1wtf	AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation|AML, BPTP3 Gene Mutation|AML, SHP-2 Gene Mutation|AML, SHP2 Gene Mutation|AML, PTP2C Gene Mutation|AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation|AML, PTPN11 gene mutation|AML, SH-PTP2 Gene Mutation|AML, PTP-1D Gene Mutation																													owl:Class
MONDO:0044887	biolink:NamedThing	central nervous system non-hodgkin lymphoma	A non-Hodgkin lymphoma that arises from the central nervous system.	mondoexuq1wtf	Central nervous system non-Hodgkin lymphoma|non-Hodgkin lymphoma of central nervous system|Primary Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma											SCTID:448254007|UMLS:C2213246|NCIT:C114779																		owl:Class
MONDO:0006610	biolink:NamedThing	skin atrophy	The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.	mondoexuq1wtf	atrophy of skin|atrophy - skin|atrophic skin|atrophic condition of skin|atrophoderma											UMLS:C0151514|Wikipedia:Steroid_atrophy|ICD9:701.8|ICD10:L90.9|EFO:1000766|COHD:134118|ICD10:L90|DOID:2733|NCIT:C35163|SCTID:400190005																		owl:Class
MONDO:0004260	biolink:NamedThing	peptic ulcer perforation	Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.	mondoexuq1wtf	acute peptic ulcer with perforation|peptic ulcer with perforation|perforated peptic ulcer											SCTID:79118000|MESH:D010439|UMLS:C0267291|UMLS:C0030925|DOID:752|EFO:1001389																		owl:Class
MONDO:0007787	biolink:NamedThing	Ambras type hypertrichosis universalis congenita	Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.	mondoexuq1wtf	hypertrichosis, congenital generalized|Ambras syndrome|congenital generalized hypertrichosis, Ambras type|HTC1|HTC 1|hypertrichosis universalis congenita, Ambras type|hypertrichosis universalis congenita Ambras type											GARD:0008206|ICD10:Q84.2|OMIM:145701|Orphanet:1023|DOID:0111060|UMLS:C1840362																		owl:Class
MONDO:0010042	biolink:NamedThing	spastic diplegia and intellectual disability		mondoexuq1wtf	hereditary spastic diplegia with mental retardation|spastic diplegia and mental retardation|spastic diplegia and intellectual disability|hereditary spastic diplegia with intellectual disability|spastic diplegia infantile type|spastic diplegia, infantile type											OMIM:270600|GARD:0004911|MESH:C537481|UMLS:C1849139																		owl:Class
MONDO:0021851	biolink:NamedThing	alopecia universalis onychodystrophy vitiligo	A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.	mondoexuq1wtf	alopecia universalis, onychodystrophy, and total vitiligo											MESH:C537056|UMLS:C2931408|GARD:0000615														https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo				owl:Class
MONDO:0009356	biolink:NamedThing	autosomal recessive humeroradial synostosis	Autosomal recessive form of humeroradial synostosis (disease).	mondoexuq1wtf	humeroradial/multiple synostosis syndrome|humeroradial synostosis (disease), autosomal recessive|humeroradial synostosis|autosomal recessive humeroradial synostosis (disease)											OMIM:236400																		owl:Class
MONDO:0020847	biolink:NamedThing	intellectual disability, autosomal dominant 58		mondoexuq1wtf	MENTAL RETARDATION, autosomal dominant 58|MRD58											OMIM:618106																		owl:Class
MONDO:0032920	biolink:NamedThing	juvenile arthritis due to defect in LACC1		mondoexuq1wtf	JUVENILE ARTHRITIS|JUVAR											OMIM:618795																		owl:Class
MONDO:0007684	biolink:NamedThing	granulomatous disease, chronic, autosomal dominant type		mondoexuq1wtf	granulomatous disease, chronic, autosomal dominant type											UMLS:C1841825|MESH:C564210|OMIM:138990|DOID:0070190																		owl:Class
MONDO:0022060	biolink:NamedThing	calloso-genital dysplasia		mondoexuq1wtf	primary amenorrhoea with coloboma and total agenesis of the corpus callosum											MESH:C537962|UMLS:C2931677|GARD:0001055														https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia				owl:Class
MONDO:0008430	biolink:NamedThing	skeletal dysplasia with delayed epiphyseal and carpal bone ossification		mondoexuq1wtf	skeletal dysplasia with delayed epiphyseal and carpal bone ossification											MESH:C566687|OMIM:182255|UMLS:C1866939																		owl:Class
MONDO:0001057	biolink:NamedThing	malignant gastric granular cell tumor	A metastasizing granular cell tumor that arises from the stomach.	mondoexuq1wtf	malignant granular cell neoplasm of the stomach|malignant granular cell tumor of the stomach|malignant granular cell stomach tumor|malignant granular cell stomach neoplasm|malignant gastric granular cell tumor|malignant gastric granular cell neoplasm|malignant granular cell tumor of stomach|malignant granular cell neoplasm of stomach											NCIT:C5484|DOID:10536|UMLS:C1334585																		owl:Class
MONDO:0016491	biolink:NamedThing	hemoglobin E-beta-thalassemia syndrome	Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.	mondoexuq1wtf	E-beta-thalassemia|HbE-beta-thalassemia syndrome											Orphanet:231249|ICD10:D58.2|UMLS:C0472777																		owl:Class
MONDO:0036870	biolink:NamedThing	lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.	mondoexuq1wtf	neoplasm of the lymph vessel|neoplasm of the lymphatic vessel|tumor of lymphatic vessel|neoplasm of lymphatic vessel|lymphatic vessel neoplasm|lymphatic vessel tumor|tumor of lymph vessel|lymph vessel neoplasm|tumor of the lymphatic vessel|tumor of the lymph vessel|lymph vessel tumor|neoplasm of lymph vessel											UMLS:C0206619|NCIT:C3723																		owl:Class
MONDO:0008435	biolink:NamedThing	Somatomedin, embryonic		mondoexuq1wtf	Somatomedin, embryonic											OMIM:182400																		owl:Class
MONDO:0008455	biolink:NamedThing	spinal muscular atrophy, segmental		mondoexuq1wtf	spinal muscular atrophy, segmental											OMIM:183020|UMLS:C1866774|MESH:C566670																		owl:Class
MONDO:0009076	biolink:NamedThing	autosomal recessive nonsyndromic deafness 1A	An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.	mondoexuq1wtf	deafness nonsyndromic, connexin 26 linked|GJB2-related deafness|deafness, digenic, Gjb2/Gjb6|deafness, autosomal recessive type 1A|connexin 26 deafness|deafness, digenic, Gjb2/Gjb3|autosomal recessive nonsyndromic deafness type 1A|DFNB1|autosomal recessive deafness 1A|deafness, autosomal recessive 1A|DFNB1A											NCIT:C129022|MESH:C567134|ICD10:H90.3|DOID:0110475|OMIM:220290|GARD:0001697														https://rarediseases.info.nih.gov/diseases/1697/dfnb1				owl:Class
MONDO:0001912	biolink:NamedThing	acute frontal sinusitis	Acute form of frontal sinusitis.	mondoexuq1wtf	frontal sinusitis, acute											DOID:14225|COHD:139850|ICD10:J01.10|ICD10:J01.1|ICD9:461.1|UMLS:C0155805|SCTID:91038008																		owl:Class
MONDO:0003966	biolink:NamedThing	testicular monophasic choriocarcinoma	A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.	mondoexuq1wtf												NCIT:C39935|DOID:6693|UMLS:C1515290																		owl:Class
MONDO:0032905	biolink:NamedThing	spastic paraplegia 81, autosomal recessive		mondoexuq1wtf	SPG81|SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE											OMIM:618768																		owl:Class
MONDO:0010449	biolink:NamedThing	autism, susceptibility to, X-linked 5		mondoexuq1wtf	AUTSX5|autism, susceptibility to, X-linked 5|autism, susceptibility to, X-linked type 5|susceptibility to X-linked autism 5											OMIM:300847																		owl:Class
MONDO:0002828	biolink:NamedThing	Bartholin gland transitional cell carcinoma	A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.	mondoexuq1wtf	Bartholin's gland transitional cell carcinoma|Bartholin gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma											DOID:3998|UMLS:C1511053|NCIT:C40297																		owl:Class
MONDO:0003615	biolink:NamedThing	nerve compression syndrome	Any nerve disorder caused by the entrapment and compression of a nerve.	mondoexuq1wtf	peripheral nerve entrapment syndrome|compression neuropathy|entrapment neuropathy											NCIT:C27221|DOID:573|MESH:D009408|SCTID:45781009																		owl:Class
MONDO:0015733	biolink:NamedThing	low anorectal malformation	Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.	mondoexuq1wtf												ICD9:751.5|ICD10:Q42.3|UMLS:C0345218|SCTID:253772005|NCIT:C98975|Orphanet:171215|ICD10:Q42.2																		owl:Class
MONDO:0019068	biolink:NamedThing	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.	mondoexuq1wtf	neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|fetomaternal alloimmunization with antenatal glomerulopathies|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|FMAIG|neonatal glomerulopathy due to neprilysin alloimmunization|neonatal glomerulopathy due to Neprilysin alloimmunization											Orphanet:69063|SCTID:725592009|ICD10:P96.0|UMLS:C4511239																		owl:Class
MONDO:0008069	biolink:NamedThing	necrotizing encephalomyelopathy, subacute, of Leigh, adult		mondoexuq1wtf	necrotizing encephalomyelopathy, subacute, of Leigh, adult|Leigh syndrome, adult											MESH:C563530|OMIM:161700|UMLS:C1834340																		owl:Class
MONDO:0007183	biolink:NamedThing	azotemia, familial		mondoexuq1wtf	azotemia, familial											MESH:C566233|UMLS:C1862358|OMIM:109160																		owl:Class
MONDO:0012892	biolink:NamedThing	connective tissue disorder due to lysyl hydroxylase-3 deficiency	Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	mondoexuq1wtf	lysyl Hydroxylase 3 deficiency|connective tissue disorder due to LH3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|bone fragility with contractures, arterial rupture, and deafness|LH3 deficiency											UMLS:C2676285|OMIM:612394|MESH:C567320|Orphanet:300284|SCTID:763318007																		owl:Class
MONDO:0017603	biolink:NamedThing	ALK-negative anaplastic large cell lymphoma	ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).	mondoexuq1wtf	ALK- ALCL|anaplastic large cell lymphoma, ALK-negative|ALK-negative anaplastic large cell lymphoma|ALK- anaplastic large cell lymphoma|ALCL, ALK-											Orphanet:300903|NCIT:C37194|UMLS:C1332078|ICDO:9702/3|EFO:1000083|ICD10:C84.7																		owl:Class
MONDO:0002152	biolink:NamedThing	intermittent squint		mondoexuq1wtf	intermittent heterotropia											UMLS:C0152210|ICD10:H50.3|ICD10:H50.30|ICD9:378.20|DOID:1942|ICD9:378.2|SCTID:74025007																		owl:Class
MONDO:0024465	biolink:NamedThing	surfactant metabolism dysfunction, pulmonary, 2		mondoexuq1wtf	pulmonary alveolar proteinosis, congenital, 2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|interstitial lung disease due to surfactant Protein C deficiency|SMDP2|surfactant metabolism dysfunction, pulmonary, 2											OMIM:610913																		owl:Class
MONDO:0006869	biolink:NamedThing	nodular goiter	Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.	mondoexuq1wtf	nodular goitre|goiter, nodular|nodular goiter (disease)|nodular goiter		nodular goiter (disease)									DOID:13197|NCIT:C131437|MESH:D006044|HP:0005994|MedDRA:10018495|SCTID:419153005|EFO:1001062|UMLS:C0018023																		owl:Class
MONDO:0004708	biolink:NamedThing	esophagus carcinoma in situ	Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)	mondoexuq1wtf	esophageal carcinoma in situ aJCC v7|severe esophageal dysplasia aJCC v7|stage 0 esophageal cancer aJCC v7|stage 0 esophagus carcinoma|esophageal carcinoma in situ|esophagus in situ carcinoma|stage 0 esophageal carcinoma in situ|stage 0 carcinoma of the esophagus|carcinoma in situ of esophagus|severe esophageal dysplasia|stage 0 esophageal cancer											ICD9:230.1|DOID:9095|COHD:28109|SCTID:92585006|UMLS:C0154059|ICD10:D00.1|NCIT:C89771																		owl:Class
MONDO:0020522	biolink:NamedThing	Ehlers-Danlos syndrome type 7B		mondoexuq1wtf	Ehlers-Danlos syndrome, arthrochalasia type, 2|EDSARTH2|Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDS VIIB											GTR:AN1112966|GTR:AN1112503|Orphanet:99876|UMLS:C1851801|UMLS:CN706304|GTR:AN1112967|MESH:C565061|GTR:AN1112965|ICD10:Q79.6																		owl:Class
MONDO:0032823	biolink:NamedThing	intellectual developmental disorder 60 with seizures		mondoexuq1wtf	MRD60|INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES|Mental Retardation, Autosomal Dominant 60, With Seizures											OMIM:618587																		owl:Class
MONDO:0003465	biolink:NamedThing	fibrous synovial sarcoma		mondoexuq1wtf	fibrous sarcoma of synovium|fibrous sarcoma of the synovium											DOID:5484|NCIT:C6533|UMLS:C1333616																		owl:Class
MONDO:0008256	biolink:NamedThing	platelet membrane fluidity		mondoexuq1wtf	platelet membrane fluidity|PMF											OMIM:173560																		owl:Class
MONDO:0019862	biolink:NamedThing	levocardia	A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.	mondoexuq1wtf	Situs inversus with levocardia|levocardia-situs inversus|Isolated levocardia with situs inversus											MESH:D007979|SCTID:205769006|ICD10:Q24.1|NCIT:C111647|MedDRA:10071015|Orphanet:95854|UMLS:C0023569|GARD:0012032																		owl:Class
MONDO:0017116	biolink:NamedThing	congenital communicating hydrocephalus		mondoexuq1wtf	congenital non-obstructive hydrocephalus											Orphanet:269505|ICD10:Q03.8																		owl:Class
MONDO:0054804	biolink:NamedThing	microcephaly 21, primary, autosomal recessive		mondoexuq1wtf	MCPH21|microcephaly 21, PRIMARY, autosomal recessive											OMIM:617983|UMLS:CN244930																		owl:Class
MONDO:0054849	biolink:NamedThing	inflammatory bowel disease 29		mondoexuq1wtf	inflammatory bowel disease 29|IBD29											OMIM:618077																		owl:Class
MONDO:0010881	biolink:NamedThing	mesomelia-synostoses syndrome	Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.	mondoexuq1wtf	mesomelic dysplasia, syndromic|Del(8)q(13)|Verloes-David syndrome|8q13 microdeletion syndrome|chromosome 8Q13 deletion syndrome|monosomy 8q13|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|mesomelia-synostoses syndrome|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|mesomelia synostoses|mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type											GARD:0004302|MESH:C537348|UMLS:C1838162|OMIM:600383|SCTID:724147004|Orphanet:2496|ICD10:Q74.8														https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome				owl:Class
MONDO:0014079	biolink:NamedThing	restless legs syndrome, susceptibility to, 8		mondoexuq1wtf	RLS8|restless legs syndrome, susceptibility to, 8											OMIM:615197																		owl:Class
MONDO:0016952	biolink:NamedThing	partial duplication of the long arm of chromosome 1		mondoexuq1wtf	partial trisomy of the long arm of chromosome 1|1q duplications|partial trisomy of chromosome 1q|partial trisomy 1q|partial duplication of chromosome 1q|partial duplication of the long arm of chromosome type 1											UMLS:C0795800|Orphanet:262833|NCIT:C36521|GARD:0010831																		owl:Class
MONDO:0010055	biolink:NamedThing	spinal muscular atrophy with microcephaly and mental subnormality		mondoexuq1wtf	spinal muscular atrophy with microcephaly and mental subnormality											UMLS:C1849108|OMIM:271110|MESH:C564806																		owl:Class
MONDO:0003866	biolink:NamedThing	liver extraskeletal osteosarcoma	An osteosarcoma arising from the liver.	mondoexuq1wtf	liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|hepatic extraskeletal osteosarcoma|osteosarcoma of the liver|osteogenic sarcoma of liver|liver osteosarcoma|hepatic osteosarcoma|hepatic osteogenic sarcoma|liver osteogenic sarcoma|liver osteosarcoma (disease)|osteosarcoma of liver											UMLS:C1333974|DOID:6370|NCIT:C5833																		owl:Class
MONDO:0005238	biolink:NamedThing	round cell liposarcoma	A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.	mondoexuq1wtf	round cell liposarcoma|round cell liposarcoma (morphologic abnormality)|cellular myxoid liposarcoma											EFO:0003084|DOID:5692|ICD9:171.9|ICDO:8853/3|SCTID:404070007|NCIT:C4252|UMLS:C0334471																		owl:Class
MONDO:0000479	biolink:NamedThing	segmental dystonia	A dystonia that affects two or more adjacent parts of the body.	mondoexuq1wtf												DOID:0050838|SCTID:427945008|ICD9:333.89|UMLS:C1997740																		owl:Class
MONDO:0044921	biolink:NamedThing	atypical lymphoproliferative disorder		mondoexuq1wtf	atypical lymphoid hyperplasia|atypical lymphoproliferative disorder											NCIT:C7764|UMLS:C0272217|SCTID:20991001																		owl:Class
MONDO:0005591	biolink:NamedThing	pit and fissure surface dental caries		mondoexuq1wtf												EFO:0006338|ICD9:521.06																		owl:Class
MONDO:0007265	biolink:NamedThing	cardiofaciocutaneous syndrome 1	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.	mondoexuq1wtf	Cfcs|cardiofaciocutaneous syndrome 1|cardiofaciocutaneous syndrome caused by mutation in BRAF|CFC1|cardiofaciocutaneous syndrome type 1|CFC syndrome|BRAF cardiofaciocutaneous syndrome											DOID:0111460|OMIM:115150|UMLS:CN029449																		owl:Class
MONDO:0042965	biolink:NamedThing	Machado-Joseph disease type 5	A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.	mondoexuq1wtf	azorean disease, type V											ICD9:334.3																		owl:Class
MONDO:0004897	biolink:NamedThing	hypotropia	Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.	mondoexuq1wtf	hypotropia|downward ocular deviation|sunset sign											UMLS:C0152208|NCIT:C42086|SCTID:29491004|DOID:9841|ICD9:378.32|COHD:379029																		owl:Class
MONDO:0013941	biolink:NamedThing	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	mondoexuq1wtf	metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria											Orphanet:99646|UMLS:C3553958|OMIM:614875																		owl:Class
MONDO:0021191	biolink:NamedThing	malignant ependymoma	A malignant form of ependymoma.	mondoexuq1wtf	ependymoma, malignant|ependymal tumors											DOID:5074|UMLS_CUI:C1333407																		owl:Class
MONDO:0016850	biolink:NamedThing	atypical Norrie disease due to monosomy Xp11.3	Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	mondoexuq1wtf	atypical Norrie disease due to del(X)(p11.3)|atypical Norrie disease due to Xp11.3 microdeletion											ICD10:H35.5|Orphanet:261501|UMLS:C4518083|SCTID:733626002|UMLS:CN202196																		owl:Class
MONDO:0017810	biolink:NamedThing	variant ABeta2M amyloidosis	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	mondoexuq1wtf	autosomal dominant beta2-microglobulinic amyloidosis											Orphanet:314652|UMLS:C4302669|UMLS:CN203779|ICD10:E85.1|SCTID:722292000																		owl:Class
MONDO:0010976	biolink:NamedThing	KRT14-related epidermolysis bullosa simplex	KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.	mondoexuq1wtf	EBS-AR KRT14|KRT14-related autosomal recessive epidermolysis bullosa simplex|EBSB1|epidermolysis bullosa simplex, autosomal recessive type 1|epidermolysis bullosa simplex, autosomal recessive 1|epidermolysis bullosa simplex, autosomal recessive K14|EBS, autosomal recessive K14|KRT14-related autosomal recessive EBS											ICD10:Q81.0|OMIM:601001|MESH:C563408|Orphanet:89838																		owl:Class
MONDO:0300000	biolink:NamedThing	SSR3-CDG	A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.	mondoexuq1wtf	SSR3 congenital disorder of glycosylation|SSR3 deficiency							http://orcid.org/0000-0003-2338-2550				http://orcid.org/0000-0001-9969-8610																		owl:Class
MONDO:0008226	biolink:NamedThing	periodontitis, aggressive 1	A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.	mondoexuq1wtf	periodontitis, aggressive, 1|periodontitis, aggressive, type 1|juvenile periodontitis|periodontitis, prepubertal|periodontitis, juvenile											ICD9:523.5|OMIM:170650|EFO:0006342|MESH:D010520|DOID:1474|UMLS:C0031106|ICD10:K05.2																		owl:Class
MONDO:0004501	biolink:NamedThing	fallopian tube cystadenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.	mondoexuq1wtf	fallopian tube cystadenofibroma|cystadenofibroma of fallopian tube|fallopian tube serous cystadenofibroma											DOID:8211|UMLS:C1517111|NCIT:C40114																		owl:Class
MONDO:0005838	biolink:NamedThing	mansonelliasis	A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.	mondoexuq1wtf	Mansonellosis|Mansonella perstans infections											MESH:D008368|DOID:1081|NCIT:C84882|UMLS:C0024759|ICD10:B74.4|SCTID:240849009|EFO:0007357|GARD:0008216|Orphanet:2459														https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis				owl:Class
MONDO:0019807	biolink:NamedThing	mesocardia		mondoexuq1wtf	mesocardia|mesocardia (disease)|Midline heart		mesocardia (disease)									ICD10:Q24.8|SCTID:16567006|HP:0011599|Orphanet:95443|ICD9:746.87																		owl:Class
MONDO:0033310	biolink:NamedThing	Joubert syndrome 31		mondoexuq1wtf	Joubert syndrome 31|JBTS31											DOID:0080277|OMIM:617761																		owl:Class
MONDO:0009042	biolink:NamedThing	craniotelencephalic dysplasia	Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	Complex of anomalies involving the cranium and brain|craniotelencephalic dysplasia											Orphanet:1528|OMIM:218670|GARD:0001605|UMLS:C1857471|SCTID:715422002|ICD10:Q04.3|MESH:C535597														https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia				owl:Class
MONDO:0000482	biolink:NamedThing	focal hand dystonia	A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.	mondoexuq1wtf	writer's cramp|organic writer's cramp|hand and arm dystonia											UMLS:C0154676|ICD9:333.84|DOID:0050841|SCTID:52008007																		owl:Class
MONDO:0032796	biolink:NamedThing	hyper-ige recurrent infection syndrome 4, autosomal recessive		mondoexuq1wtf	HIES4|HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE											DOID:0080596|OMIM:618523																		owl:Class
MONDO:0100031	biolink:NamedThing	adolescent/adult onset autosomal dominant epilepsy with auditory features	A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	mondoexuq1wtf	autosomal dominant partial/lateral temporal epilepsy with auditory features				2018-06-23 01:47:18+00:00																									owl:Class
MONDO:0010898	biolink:NamedThing	Autosomal dominant epilepsy with auditory features	A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.	mondoexuq1wtf	ETL1|autosomal dominant lateral temporal lobe epilepsy|epilepsy, partial, with auditory features|partial epilepsy with auditory features|epilepsy, familial temporal lobe, type 1|partial epilepsy with auditory aura|ADEAF|familial temporal lobe epilepsy 1|epilepsy, familial temporal lobe, 1|familial temporal lobe epilepsy type 1|epilepsy, familial temporal lobe 1|autosomal dominant epilepsy with auditory features|ADLTE|autosomal dominant partial epilepsy with auditory features|epilepsy, lateral temporal lobe, autosomal dominant|ADPEAF					Editor note: split out generic type						Orphanet:101046|GARD:0002257|DOID:0060748|UMLS:C1838062|MESH:C537297														https://github.com/monarch-initiative/mondo/issues/1134|https://github.com/monarch-initiative/mondo/issues/2614				owl:Class
MONDO:0003476	biolink:NamedThing	clear cell ependymoma	An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.	mondoexuq1wtf	clear cell ependymoma											DOID:5507|ONCOTREE:CCE|NCIT:C4714																		owl:Class
MONDO:0012933	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 2	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.	mondoexuq1wtf	BROVCA2|BRCA2 hereditary breast ovarian cancer syndrome|ovarian cancer, familial, susceptibility to, 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|susceptibility to familial breast-ovarian cancer 2|breast cancer, familial, susceptibility to, 2|breast-ovarian cancer, familial, susceptibility to, type 2|breast-ovarian cancer, familial, susceptibility to, 2											OMIM:612555																		owl:Class
MONDO:0015097	biolink:NamedThing	aortic valve dysplasia		mondoexuq1wtf												ICD9:746.89|ICD10:Q23.0|SCTID:253604004|Orphanet:101043																		owl:Class
MONDO:0033493	biolink:NamedThing	fibromatosis, gingival, 5		mondoexuq1wtf	gingival fibromatosis 5|fibromatosis, gingival, hereditary, 5|GINGF5|GGF5|fibromatosis, gingival, 5											DOID:0080280|OMIM:617626																		owl:Class
MONDO:0000375	biolink:NamedThing	bronchus carcinoma in situ	A carcinoma in situ involving a bronchus.	mondoexuq1wtf	carcinoma in situ of bronchus|bronchus in situ carcinoma|stage 0 bronchus carcinoma											UMLS:C2939445|SCTID:92557009|DOID:0050614																		owl:Class
MONDO:0010047	biolink:NamedThing	hereditary spastic paraplegia 5A	Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	mondoexuq1wtf	pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia type 5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia|spastic paraplegia type 5B, recessive|autosomal recessive spastic paraplegia 5A|spastic paraplegia 5A, autosomal recessive|SPG5A|spastic paraplegia 5A|autosomal recessive spastic paraplegia type 5A|hereditary spastic paraplegia type 5A					OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb.						DOID:0110810|UMLS:C1849115|Orphanet:100986|OMIM:270800|GARD:0004926|UMLS:C2931357|ICD10:G11.4|SCTID:763373005																		owl:Class
MONDO:0005310	biolink:NamedThing	atrial flutter	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)	mondoexuq1wtf	atrial flutter (disease)|atrial flutter		atrial flutter (disease)									EFO:0003911|NCIT:C51224|COHD:314665|MESH:D001282|ICD9:427.32|HP:0004749|SCTID:5370000																		owl:Class
MONDO:0008789	biolink:NamedThing	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane		mondoexuq1wtf	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane											OMIM:206300|MESH:C565953|UMLS:C1859786																		owl:Class
MONDO:0032817	biolink:NamedThing	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES|NDCAGF											OMIM:618571|DOID:0070346																		owl:Class
MONDO:0003474	biolink:NamedThing	tanycytic ependymoma	A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)	mondoexuq1wtf	tanycytic ependymoma											DOID:5504|UMLS:C1370500|NCIT:C6903																		owl:Class
MONDO:0011548	biolink:NamedThing	cerebral palsy, ataxic, autosomal recessive		mondoexuq1wtf	Acp|ataxic cerebral palsy|cerebral palsy, ataxic, autosomal recessive|cerebral palsy ataxic											ICD9:343.8|GARD:0010451|OMIM:605388														https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic				owl:Class
MONDO:0006976	biolink:NamedThing	somatostatinoma	A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.	mondoexuq1wtf	tumor of Delta cells|somatostatin-producing NET|somatostatin-secreting pancreatic neoplasm|Delta cell tumor|carcinoid somatostatinoma|somatostatin cell tumor|somatostatin-producing neuroendocrine tumor|Somatomedin-secreting carcinoid|malignant islet cell tumor|tumor of the Delta cells|somatostatin-producing tumor|somatostatin producing tumor|ampullary somatostatinoma|somatostatin cell tumour|somatostatin cell neoplasm|somatostatinoma											NCIT:C3379|Orphanet:97283|ICD10:E16.8|SCTID:253006001|GARD:0004900|ICD9:235.5|ICDO:8156/1|MESH:D013005|MedDRA:10041329|EFO:1001187|UMLS:C0037661|DOID:4430														https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma				owl:Class
MONDO:0032747	biolink:NamedThing	hydatidiform mole, recurrent, 4		mondoexuq1wtf	HYDATIDIFORM MOLE, RECURRENT, 4|HYDM4											OMIM:618432																		owl:Class
MONDO:0003052	biolink:NamedThing	granulomatous endometritis	Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.	mondoexuq1wtf	granulomatous endometritis											UMLS:C1333876|DOID:4561|NCIT:C27626																		owl:Class
MONDO:0001727	biolink:NamedThing	active cochleovestibular Meniere disease		mondoexuq1wtf	active Meniere's disease, cochleovestibular|active cochleovestibular Meniere's disease|cochleovestibular active Mnire's disease|active cochleovestibular Meniere disease											ICD9:386.01|UMLS:C0155496|SCTID:194348002|DOID:13490																		owl:Class
MONDO:0001850	biolink:NamedThing	female breast lower-outer quadrant cancer		mondoexuq1wtf	malignant neoplasm of lower-outer quadrant of female breast											SCTID:188155002|ICD10:C50.51|UMLS:C0153553|ICD9:174.5|DOID:13972																		owl:Class
MONDO:0017856	biolink:NamedThing	X-linked spasticity-intellectual disability-epilepsy syndrome		mondoexuq1wtf												UMLS:CN203866|ICD10:G25.3|Orphanet:3175																		owl:Class
MONDO:0005419	biolink:NamedThing	metamphetamine dependence	A drug dependence that is a psychological dependency on the regular use of metamphetamine.	mondoexuq1wtf												EFO:0004701																		owl:Class
MONDO:0020567	biolink:NamedThing	apnea of prematurity	Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.	mondoexuq1wtf												NCIT:C98823|ICD10:P28.4|Orphanet:99981|SCTID:276544005																		owl:Class
MONDO:0010224	biolink:NamedThing	corpus callosum agenesis-abnormal genitalia syndrome	Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.	mondoexuq1wtf	corpus callosum, agenesis of, with abnormal genitalia|Proud-Levine-Carpenter syndrome|Proud Levine Carpenter syndrome|New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud syndrome|ACC with abnormal genitalia|ACC-abnormal genitalia syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome											OMIM:300004|SCTID:763797003|UMLS:C0796124|ICD10:Q87.8|MESH:C563110|Orphanet:2508|GARD:0004528																		owl:Class
MONDO:0003069	biolink:NamedThing	suppurative lymphadenitis	A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.	mondoexuq1wtf	suppurative lymphadenopathy											SCTID:48573006|NCIT:C27135|ICD9:457.8|DOID:4639|UMLS:C0392051																		owl:Class
MONDO:0000962	biolink:NamedThing	spindle cell lipoma	A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.	mondoexuq1wtf	spindle cell lipoma (morphologic abnormality)|spindle cell lipoma											ICDO:8857/0|DOID:10184|NCIT:C4254|SCTID:404058008|UMLS:C0334474																		owl:Class
MONDO:0004706	biolink:NamedThing	discoid lupus erythematosus of eyelid		mondoexuq1wtf												SCTID:79291003|COHD:432919|UMLS:C0155180|ICD10:H01.12|DOID:9076|ICD9:373.34																		owl:Class
MONDO:0003189	biolink:NamedThing	middle ear adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the middle ear	mondoexuq1wtf	adenocarcinoma of the middle ear|middle Ear adenocarcinoma|adenocarcinoma of the middle Ear|adenocarcinoma of middle Ear|middle ear adenocarcinoma|adenocarcinoma of middle ear											NCIT:C6848|DOID:4892|UMLS:C1334758																		owl:Class
MONDO:0002951	biolink:NamedThing	skin adenoid basal cell carcinoma	A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.	mondoexuq1wtf	skin adenoid basal cell carcinoma|adenoid basal cell carcinoma					Editor note: adenoid refers to histological subtype, not tonsils						SCTID:402525008|DOID:4294|ICDO:8098/3|NCIT:C27535																		owl:Class
MONDO:0003922	biolink:NamedThing	ovarian clear cell malignant adenofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.	mondoexuq1wtf	ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma											ICDO:8313/3|NCIT:C40079|UMLS:C2075522|DOID:6554																		owl:Class
MONDO:0010919	biolink:NamedThing	varicella, severe recurrent		mondoexuq1wtf	varicella, severe recurrent											MESH:C563458|UMLS:C1833487|OMIM:600670																		owl:Class
MONDO:0016917	biolink:NamedThing	partial deletion of the long arm of chromosome 19		mondoexuq1wtf	partial deletion of chromosome 19q|partial deletion of the long arm of chromosome type 19|partial monosomy of chromosome 19q|partial monosomy of the long arm of chromosome 19											ICD10:Q93.5|Orphanet:262155																		owl:Class
MONDO:0021471	biolink:NamedThing	benign neoplasm of endometrium	A benign neoplasm that involves the endometrium.	mondoexuq1wtf	benign endometrial tumor|benign endometrium neoplasm|benign neoplasm of the endometrium|endometrium benign neoplasm|benign endometrial neoplasm|benign tumor of endometrium|benign endometrium tumor|benign tumor of the endometrium											UMLS:C0686239|NCIT:C4894|SCTID:92086004																		owl:Class
MONDO:0011040	biolink:NamedThing	spinal dysplasia, Anhalt type		mondoexuq1wtf	spinal dysplasia, Anhalt type											OMIM:601344|UMLS:C1832464|MESH:C563348																		owl:Class
MONDO:0022546	biolink:NamedThing	basal cell nevus anodontia abnormal bone mineralization		mondoexuq1wtf												GARD:0000831														https://rarediseases.info.nih.gov/diseases/831/basal-cell-nevus-anodontia-abnormal-bone-mineralization				owl:Class
MONDO:0013096	biolink:NamedThing	glioma susceptibility 7		mondoexuq1wtf	glioma susceptibility 7|GLM7											OMIM:613032																		owl:Class
MONDO:0010681	biolink:NamedThing	myelolymphatic insufficiency		mondoexuq1wtf	Myelolymphatic insufficiency|Pelger-like anomaly with leukopenia and susceptibility to infections											OMIM:310350|UMLS:C1839650																		owl:Class
MONDO:0010755	biolink:NamedThing	vesicoureteral reflux, X-linked		mondoexuq1wtf	vesicoureteral reflux, X-linked|VURX											MESH:C564042|UMLS:C1839114|OMIM:314550																		owl:Class
MONDO:0012797	biolink:NamedThing	otosclerosis 8		mondoexuq1wtf	otosclerosis 8|OTSC8											UMLS:C2677515|MESH:C567421|OMIM:612096																		owl:Class
MONDO:0016579	biolink:NamedThing	dominant hypophosphatemia with nephrolithiasis or osteoporosis		mondoexuq1wtf												Orphanet:244305|UMLS:CN228623																		owl:Class
MONDO:0003293	biolink:NamedThing	lung leiomyoma	A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of the lung|lung leiomyoma|pulmonary leiomyoma|leiomyoma of lung											SCTID:707374005|UMLS:C1334447|DOID:5136|NCIT:C5660																		owl:Class
MONDO:0004150	biolink:NamedThing	breast giant fibroadenoma	A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.	mondoexuq1wtf	breast giant fibroadenoma|giant fibroadenoma of the breast|giant fibroadenoma|giant breast fibroadenoma|giant fibroadenoma of breast											NCIT:C4273|DOID:7223|SCTID:254846003|UMLS:C0334500|ICDO:9016/0|UMLS:C0346157																		owl:Class
MONDO:0013214	biolink:NamedThing	bile acid malabsorption, primary		mondoexuq1wtf	bile acid malabsorption, primary|PBAM											OMIM:613291|MESH:C567652|UMLS:C2750087																		owl:Class
MONDO:0006656	biolink:NamedThing	aortitis	Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.	mondoexuq1wtf	aorta inflammation|inflammation of aorta											DOID:519|NCIT:C97085|MESH:D001025|MedDRA:10002921|ICD10:I77.6|EFO:1000816|UMLS:C0003509|SCTID:70933002																		owl:Class
MONDO:0033366	biolink:NamedThing	developmental and epileptic encephalopathy, 57		mondoexuq1wtf	DEE57|infantile epileptic encephalopathy 57|epileptic encephalopathy, early infantile, 57|EIEE57											DOID:0080284|OMIM:617771|UMLS:CN633295																		owl:Class
MONDO:0011072	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 2		mondoexuq1wtf	noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2|NIDDM2											OMIM:601407|UMLS:C1832387|MESH:C563323																		owl:Class
MONDO:0017289	biolink:NamedThing	fetal lung interstitial tumor		mondoexuq1wtf	flit|immature interstitial mesenchymal tumor											Orphanet:284362|UMLS:CN202863																		owl:Class
MONDO:0044354	biolink:NamedThing	Rosai-Dorfman disease	Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia.	mondoexuq1wtf	Rosaï-Dorfman-Destombes disease|RosaC/-Dorfman-Destombes disease|Destombes-Rosaï-Dorfman disease|SHML|Destombes-RosaC/-Dorfman disease|sinus histiocytosis with massive lymphadenopathy|Rosaï-Dorfman disease											ICD10:D76.3|ONCOTREE:RDD|MedDRA:10063397|Orphanet:158014																		owl:Class
MONDO:0003466	biolink:NamedThing	spindle cell synovial sarcoma	A synovial sarcoma characterized by the presence of a spindle cell component only.	mondoexuq1wtf	synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous											UMLS:C0334505|NCIT:C4277|DOID:5487|ICDO:9041/3																		owl:Class
MONDO:0017252	biolink:NamedThing	congenital pulmonary airway malformation type 4		mondoexuq1wtf	CPAM type 4|congenital cystic adenomatoid malformation of the lung type 4|congenital cystic adenomatous malformation of the lung type 4											ICD10:Q33.0|Orphanet:280854																		owl:Class
MONDO:0010257	biolink:NamedThing	prostate cancer, hereditary, X-linked 1		mondoexuq1wtf	prostate cancer susceptibility, X-linked|prostate cancer, hereditary, X-linked 1|HPCX1											OMIM:300147|UMLS:C1846279																		owl:Class
MONDO:0016103	biolink:NamedThing	isolated asymptomatic elevation of creatine phosphokinase	Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.	mondoexuq1wtf	isolated asymptomatic hyperCKemia|hyperCKmia|isolated hyperCKemia|idiopathic asymptomatic hyperCKemia											Orphanet:206599|DOID:0111338|NCIT:C148327																		owl:Class
MONDO:0009129	biolink:NamedThing	dwarfism, proportionate, with hip dislocation		mondoexuq1wtf	dwarfism, proportionate, with hip dislocation|dwarfism, proportionate with hip dislocation											UMLS:C1857196|MESH:C565614|OMIM:223550|GARD:0010606														https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation				owl:Class
MONDO:0009385	biolink:NamedThing	hyperleucine-Isoleucinemia		mondoexuq1wtf	hyperleucine-Isoleucinemia											UMLS:C0268574|OMIM:238340|SCTID:7046009|MESH:C562674																		owl:Class
MONDO:0025100	biolink:NamedThing	mastitis, bovine	Inflammation of the udder in cows.	mondoexuq1wtf	Mastitides, bovine|bovine mastitis|bovine Mastitides											UMLS:C0024895|EFO:1001765|MESH:D008414																		owl:Class
MONDO:0010658	biolink:NamedThing	syndromic X-linked intellectual disability 12	X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.	mondoexuq1wtf	intellectual disability, X-linked, syndromic 12|X-linked intellectual disability, Wilson type|mental retardation, X-linked, syndromic 12|syndromic X-linked intellectual disability type 12|MRXS12											MESH:C564106|OMIM:309545|UMLS:C1839792|Orphanet:85290|ICD10:Q87.8|SCTID:719009006|DOID:0060804																		owl:Class
MONDO:0002376	biolink:NamedThing	spleen angiosarcoma	A malignant vascular neoplasm arising from the spleen.	mondoexuq1wtf	hemangiosarcoma of spleen|spleen angiosarcoma (disease)|angiosarcoma (disease) of spleen|angiosarcoma of spleen|splenic angiosarcoma|hemangiosarcoma of the spleen|angiosarcoma of the spleen|splenic hemangiosarcoma											ICD9:159.1|DOID:265|SCTID:187821001|NCIT:C4564|UMLS:C0346424																		owl:Class
MONDO:0008444	biolink:NamedThing	spastic paraplegia, optic atrophy, and dementia		mondoexuq1wtf	spastic paraplegia, optic atrophy, and dementia											OMIM:182830|MESH:C566679|UMLS:C1866849																		owl:Class
MONDO:0010738	biolink:NamedThing	spondylometaphyseal dysplasia, Golden type	Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.	mondoexuq1wtf	X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia Richmond type|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia X-linked|spondylometaphyseal dysplasia, Richmond type											MESH:C563124|OMIM:313420|Orphanet:168544|ICD10:Q77.8|GARD:0008343|UMLS:C0796172																		owl:Class
MONDO:0002788	biolink:NamedThing	papillary craniopharyngioma	A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)	mondoexuq1wtf	craniopharyngioma, papillary (morphologic abnormality)|papillary neoplasm of Rathke's pouch|papillary Rathke pouch neoplasm|papillary Rathke's pouch tumor|craniopharyngioma, papillary|papillary craniopharyngioma (morphologic abnormality)|papillary tumor of Rathke's pouch|papillary Rathke's pouch neoplasm											UMLS:C0431128|DOID:3847|EFO:1000447|ICDO:9352/1|NCIT:C4725																		owl:Class
MONDO:0030861	biolink:NamedThing	osteogenesis imperfecta, type 21		mondoexuq1wtf	OI21|osteogenesis imperfecta, TYPE XXI											OMIM:619131																		owl:Class
MONDO:0011627	biolink:NamedThing	autism, susceptibility to, 5		mondoexuq1wtf	AUTS5|phrase speech delay, autism-related|autism-related speech delay|autism, susceptibility to, 5											OMIM:606053|UMLS:C1853755																		owl:Class
MONDO:0005122	biolink:NamedThing	Pectobacterium carotovorum infection	A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).	mondoexuq1wtf	Pectobacterium infectious disease|Pectobacterium caused disease or disorder|Pectobacterium disease or disorder											Wikipedia:Pectobacterium_carotovorum|EFO:0000781																		owl:Class
MONDO:0015007	biolink:NamedThing	spastic paraplegia, intellectual disability, nystagmus, and obesity;		mondoexuq1wtf	SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity											UMLS:C4284592|Orphanet:521390|OMIM:617296																		owl:Class
MONDO:0013254	biolink:NamedThing	microcephaly, seizures, and developmental delay		mondoexuq1wtf	MCSZ|microcephaly - seizures - developmental delay|microcephaly, seizures, and developmental delay|early infantile epileptic encephalopathy-10|epileptic encephalopathy, early infantile, 10|EIEE10											Orphanet:228418|OMIM:613402|UMLS:C3150667|GARD:0010933|DOID:0080457														https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay				owl:Class
MONDO:0007122	biolink:NamedThing	anisocoria	Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.	mondoexuq1wtf	anisocoria (disease)|anisocoria		anisocoria (disease)									ICD9:379.41|MESH:D015875|COHD:434374|HP:0009916|OMIM:106240|SCTID:13045009																		owl:Class
MONDO:0024675	biolink:NamedThing	adult kidney Wilms tumor	Wilms tumor of the kidney which occurs in adults.	mondoexuq1wtf	adult kidney adenosarcoma|adult renal Wilms tumor|adenosarcoma of the adult kidney|adenosarcoma of adult kidney|adult kidney Wilms tumor|adult nephroblastoma|kidney Wilms tumor of adults|adult renal Wilms' tumor|adult renal adenosarcoma											NCIT:C6180|UMLS:C1332219																		owl:Class
MONDO:0010883	biolink:NamedThing	pectus excavatum-macrocephaly-dysplastic nails syndrome	Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	pectus excavatum, macrocephaly and dysplastic nails|familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Zori-Stalker-Williams syndrome|pectus excavatum, macrocephaly, short stature, and dysplastic nails|Zori Stalker Williams syndrome											UMLS:C2931302|OMIM:600399|MESH:C536728|Orphanet:2835|SCTID:763863002|GARD:0000374																		owl:Class
MONDO:0001730	biolink:NamedThing	urethral syndrome		mondoexuq1wtf												DOID:13498|COHD:196733|ICD10:N34.3|UMLS:C0156279|SCTID:31273004|ICD9:597.81																		owl:Class
MONDO:0016286	biolink:NamedThing	adenoid cystic carcinoma of the cervix uteri	A adenoid cystic carcinoma that involves the uterine cervix.	mondoexuq1wtf	cervical adenoid cystic carcinoma|uterine cervix adenoid cystic carcinoma											ICD10:C53.8|Orphanet:213823|ICD10:C53.0|ICD10:C53.1																		owl:Class
MONDO:0018069	biolink:NamedThing	distal trisomy 17q	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	mondoexuq1wtf	telomeric duplication 17q|distal trisomy type 17q|trisomy 17qter|distal duplication 17q											ICD10:Q92.3|Orphanet:3379|SCTID:766051001																		owl:Class
MONDO:0032653	biolink:NamedThing	cardiac-urogenital syndrome		mondoexuq1wtf	CARDIAC-UROGENITAL SYNDROME|CUGS											OMIM:618280																		owl:Class
MONDO:0003958	biolink:NamedThing	childhood central nervous system immature teratoma	An immature teratoma that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	childhood central nervous system immature teratoma|pediatric central nervous system immature teratoma|central nervous system immature teratoma of childhood											DOID:6654|UMLS:C1332954|NCIT:C27405																		owl:Class
MONDO:0014194	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 6	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.	mondoexuq1wtf	CYC1 mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 6|mitochondrial complex III deficiency, nuclear type 6|mitochondrial complex III deficiency caused by mutation in CYC1|MC3DN6											OMIM:615453|UMLS:C3809553|DOID:0080115																		owl:Class
CL:1000417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054771	biolink:NamedThing	keratoconus 9		mondoexuq1wtf	KTCN9|keratoconus 9											UMLS:CN244547|OMIM:617928																		owl:Class
MONDO:0011089	biolink:NamedThing	patent ductus venosus		mondoexuq1wtf	PDV|portosystemic Venous shunt, congenital|PSVS|patent ductus venosus											ICD9:747.49|MESH:C562830|GARD:0010483|SCTID:253330006|OMIM:601466														https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus				owl:Class
MONDO:0003882	biolink:NamedThing	central nervous system fibrosarcoma	A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	mondoexuq1wtf	CNS fibrosarcoma|fibrosarcoma of the central nervous system|central nervous system fibrosarcoma|fibrosarcoma of CNS|central nervous system fibrosarcoma (disease)|fibrosarcoma of the CNS|fibrosarcoma of central nervous system											NCIT:C5465|DOID:6451|UMLS:C1332879																		owl:Class
MONDO:0032750	biolink:NamedThing	arthrogryposis, distal, type 2B2		mondoexuq1wtf	arthrogryposis, distal, type 2B2|DA2B1											OMIM:618435|DOID:0111601																		owl:Class
MONDO:0054700	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 2		mondoexuq1wtf	proteasome-associated autoinflammatory syndrome 2|PRAAS2											UMLS:CN252342|OMIM:618048																		owl:Class
MONDO:0007725	biolink:NamedThing	hereditary progressive mucinous histiocytosis	Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.	mondoexuq1wtf	histiocytosis, progressive mucinous											Orphanet:158025|OMIM:142630|ICD10:D76.3|UMLS:C1840586|MESH:C564186																		owl:Class
MONDO:0012092	biolink:NamedThing	hereditary sensory and autonomic neuropathy type 5	Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.	mondoexuq1wtf	hereditary sensory and autonomic neuropathy type V|NGF autosomal recessive hereditary sensory and autonomic neuropathy|HSAN5|insensitivity to pain, congenital|neuropathy, hereditary sensory and autonomic, type 5|HSAN 5|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|neuropathy, hereditary sensory and autonomic, type V|HSAN V|congenital insensitivity to pain and thermal analgesia											PMID:77656|DOID:0070145|GARD:12328|OMIM:608654|Orphanet:64752|SCTID:128206006|PMID:14976160|ICD10:G60.8|GARD:0012328																		owl:Class
MONDO:0011698	biolink:NamedThing	glycine N-methyltransferase deficiency	Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.	mondoexuq1wtf	glycine N-methyltransferase deficiency|hypermethioninemia due to GNMT deficiency|Glycine N-methyltransferase deficiency|GNMT deficiency|hypermethioninemia due to glycine N-methyltransferase deficiency											DOID:0111037|SCTID:763720007|Orphanet:289891|OMIM:606664|GARD:0010764|ICD10:E72.1|UMLS:C1847720														https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency				owl:Class
MONDO:0017769	biolink:NamedThing	acquired immunodeficiency		mondoexuq1wtf												Orphanet:310050																		owl:Class
MONDO:0006788	biolink:NamedThing	hydrophthalmos	Abnormal enlargement of the eye	mondoexuq1wtf												ICD9:743.2|ICD10:Q15.0|DOID:11212|MESH:D006871|EFO:1000968|ICD9:743.20																		owl:Class
MONDO:0017365	biolink:NamedThing	hereditary acrokeratotic poikiloderma, Weary type		mondoexuq1wtf	congenital poikiloderma with bullae, Weary type											ICD10:Q82.8|Orphanet:2907																		owl:Class
MONDO:0007012	biolink:NamedThing	variant Creutzfeldt-Jakob disease	A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.	mondoexuq1wtf	vCJD											SCTID:304603007|ICD9:046.11|EFO:1001233|MONDO:0005409|Orphanet:576370|GARD:0009550|DOID:5435|UMLS:C0085209|ICD10:A81.01|NCIT:C128438|MedDRA:10064199																		owl:Class
MONDO:0032761	biolink:NamedThing	deafness, autosomal recessive 114		mondoexuq1wtf	DEAFNESS, AUTOSOMAL RECESSIVE 114|DFNB114											DOID:0111642|OMIM:618456																		owl:Class
MONDO:0002849	biolink:NamedThing	liver rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.	mondoexuq1wtf	rhabdomyosarcoma of the liver|rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|liver rhabdomyosarcoma (disease)|hepatic rhabdomyosarcoma|rhabdomyosarcoma of liver											UMLS:C1333975|NCIT:C5834|DOID:4047																		owl:Class
MONDO:0007941	biolink:NamedThing	malocclusion due to protuberant upper front teeth		mondoexuq1wtf	malocclusion due to protuberant upper front teeth											OMIM:154300																		owl:Class
MONDO:0022876	biolink:NamedThing	Cortes Lacassie syndrome		mondoexuq1wtf												GARD:0001547														https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome				owl:Class
MONDO:0015376	biolink:NamedThing	first branchial cleft anomaly		mondoexuq1wtf	first branchial cleft fistula|first branchial cleft cyst											Orphanet:141013|ICD10:Q18.0|SCTID:73371000119103																		owl:Class
MONDO:0100349	biolink:NamedThing	COACH syndrome	A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.	mondoexuq1wtf	cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0018359	biolink:NamedThing	neonatal dermatomyositis		mondoexuq1wtf	neonatal DM											ICD10:M33.1|Orphanet:398117																		owl:Class
MONDO:0024245	biolink:NamedThing	ductal eccrine adenocarcinoma		mondoexuq1wtf	anaplastic syringoma|eccrine ductal carcinoma of skin|malignant acrospiroma|malignant hidradenoma|ductal eccrine adenocarcinoma|hidradenocarcinoma|ductal eccrine carcinoma|eccrine ductal carcinoma|eccrine ductal carcinoma (morphologic abnormality)|primary mucoepidermoid cutaneous carcinoma|sweat gland carcinoma of the hand											SCTID:403939009|DOID:5570|NCIT:C43345																		owl:Class
MONDO:0001513	biolink:NamedThing	pulsating exophthalmos		mondoexuq1wtf												SCTID:2284002|UMLS:C0155271|ICD10:H05.26|ICD9:376.35|DOID:12364																		owl:Class
MONDO:0015788	biolink:NamedThing	symptomatic form of hemophilia B in female carriers	A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.	mondoexuq1wtf												ICD10:D67|Orphanet:177929|UMLS:CN200370																		owl:Class
MONDO:0022551	biolink:NamedThing	Basedow's coma	A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.	mondoexuq1wtf	Karl Adolph von Basedow|Coma basedovicum											GARD:0008177														https://rarediseases.info.nih.gov/diseases/8177/basedows-coma				owl:Class
MONDO:0017096	biolink:NamedThing	isolated focal cortical dysplasia type Ia		mondoexuq1wtf	FCD type Ia											ICD10:Q04.8|UMLS:CN202453|Orphanet:268973																		owl:Class
MONDO:0002954	biolink:NamedThing	superficial multifocal basal cell carcinoma	A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.	mondoexuq1wtf	multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|superficial basal cell carcinoma|multicentric basal cell carcinoma|superficial multicentric basal-cell carcinoma|multifocal superficial basal cell carcinoma											SCTID:403914000|UMLS:C0334256|ICDO:8091/3|DOID:4300|NCIT:C4108																		owl:Class
MONDO:0002347	biolink:NamedThing	barbiturate dependence	A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.	mondoexuq1wtf												SCTID:231472009|ICD9:304.11|DOID:2575|ICD9:304.13																		owl:Class
MONDO:0019780	biolink:NamedThing	anotia	Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.	mondoexuq1wtf												ICD9:744.01|ICD10:Q16.0|MedDRA:10002654|Orphanet:93976|ICD10:Q16.1|SCTID:57436000																		owl:Class
MONDO:0012719	biolink:NamedThing	encephalopathy due to prosaposin deficiency	Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.	mondoexuq1wtf	prosaposin deficiency|PSAPD|combined saposin deficiency|combined Sap deficiency|combined SAP deficiency|combined prosaposin deficiency											DOID:0111330|MESH:C567125|UMLS:C2673635|UMLS:C4303785|ICD10:E75.2|OMIM:611721|Orphanet:139406|SCTID:720864008|GARD:0012505														https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency				owl:Class
MONDO:0004723	biolink:NamedThing	liver leiomyoma	A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	mondoexuq1wtf	leiomyoma of liver|hepatic leiomyoma|leiomyoma of the liver|liver leiomyoma											UMLS:C1333968|NCIT:C5753|DOID:917																		owl:Class
MONDO:0006401	biolink:NamedThing	salivary gland adenosquamous carcinoma	A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.	mondoexuq1wtf	salivary gland adenosquamous carcinoma|saliva-secreting gland adenosquamous carcinoma											NCIT:C35737|UMLS:C1335894|EFO:1000514																		owl:Class
MONDO:0019576	biolink:NamedThing	telangiectasia macularis eruptiva perstans		mondoexuq1wtf												ICD10:Q82.2|SCTID:8214000|Orphanet:90389|ICD9:448.9|UMLS:C0263402|MedDRA:10043192																		owl:Class
MONDO:0012263	biolink:NamedThing	autoimmune disease, susceptibility to, 4		mondoexuq1wtf	vitiligo-associated multiple autoimmune disease susceptibility 5|autoimmune disease susceptibility locus, chromosome 4-related|AIS4|autoimmune disease, susceptibility to, 4											OMIM:609400																		owl:Class
MONDO:0004201	biolink:NamedThing	pituitary hypoplasia	Incomplete development of the pituitary gland.	mondoexuq1wtf	pituitary gland hypoplasia|pituitary hypoplasia											DOID:7378|NCIT:C27343|UMLS:C0948740																		owl:Class
MONDO:0017724	biolink:NamedThing	Tay-Sachs disease, b variant, infantile form		mondoexuq1wtf	hexosaminidase A deficiency, infantile form|GM2 gangliosidosis, B variant, infantile form											ICD10:E75.0|Orphanet:309178|UMLS:CN203620																		owl:Class
MONDO:0010675	biolink:NamedThing	muscular dystrophy, cardiac type		mondoexuq1wtf	muscular dystrophy, cardiac type											OMIM:309930|MESH:C563247|UMLS:C1442927																		owl:Class
MONDO:0001726	biolink:NamedThing	childhood disintegrative disease	A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism.	mondoexuq1wtf	symbiotic psychosis|heller's syndrome|disintegrative psychosis											DOID:13487|ICD10:F84.3|ICD9:299.1|SCTID:61831009																		owl:Class
MONDO:0003369	biolink:NamedThing	vagina leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the vagina|vagina leiomyosarcoma|leiomyosarcoma of vagina|vaginal leiomyosarcoma											UMLS:C1336940|DOID:5283|NCIT:C6326																		owl:Class
MONDO:0012310	biolink:NamedThing	fibrosis of extraocular muscles, congenital, with synergistic divergence		mondoexuq1wtf	congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|fibrosis of extraocular muscles, congenital, with synergistic divergence|external ophthalmoplegia with synergistic divergence											OMIM:609612|UMLS:C1865040																		owl:Class
MONDO:0009750	biolink:NamedThing	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive		mondoexuq1wtf	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive											MESH:C564947|UMLS:C1850385|OMIM:256855																		owl:Class
MONDO:0019392	biolink:NamedThing	syringocystadenoma papilliferum	A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.	mondoexuq1wtf	papillary syringocystadenoma|papillary syringadenoma (morphologic abnormality)|papillary Syringadenoma (syringocystadenoma papilliferum)|naevus syringocystadenomatosus papilliferus|Syringadenoma|syringocystadenoma papilliferum|papillary Syringadenoma|Syringadenoma papilliferum|SCAP|fistulous vegetative verrucous hydradenoma											MedDRA:10042926|SCTID:239121009|UMLS:C0406803|EFO:1000558|ICDO:8406/0|DOID:5445|NCIT:C4172|GARD:0005100|Orphanet:840|ICD10:D23.9																		owl:Class
MONDO:0019323	biolink:NamedThing	pemphigus erythematosus	Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.	mondoexuq1wtf	seborrheic pemphigus|Senear-Usher syndrome											MedDRA:10058917|Orphanet:79480|ICD10:L10.4|UMLS:C0263312|SCTID:36739006|EFO:0008603																		owl:Class
MONDO:0001643	biolink:NamedThing	exophthalmic ophthalmoplegia		mondoexuq1wtf												SCTID:69763009|COHD:374359|DOID:13135|ICD9:376.22|UMLS:C0152135																		owl:Class
MONDO:0005716	biolink:NamedThing	contagious pleuropneumonia	A pleuropneumonia of cattle and goats caused by species of mycoplasma.	mondoexuq1wtf												EFO:0007221|MESH:D011002|UMLS:C0032243																		owl:Class
MONDO:0016199	biolink:NamedThing	qualitative or quantitative defects of protein SERCA1		mondoexuq1wtf												Orphanet:209199																		owl:Class
MONDO:0002317	biolink:NamedThing	central nervous system origin vertigo	An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)	mondoexuq1wtf	vertigo of central origin|central vestibular vertigo											COHD:381035|ICD9:386.2|ICD10:H81.4|DOID:2479|SCTID:38403006|UMLS:C0155503|ICD10:H81.49																		owl:Class
MONDO:0014258	biolink:NamedThing	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome		mondoexuq1wtf	ASNSD|asparagine synthetase deficiency|Asns deficiency											Orphanet:391376|ICD10:E72.8|UMLS:C3809971|OMIM:615574																		owl:Class
MONDO:0018318	biolink:NamedThing	disorder of asparagine metabolism		mondoexuq1wtf												Orphanet:391381|UMLS:CN227320																		owl:Class
MONDO:0015440	biolink:NamedThing	ring chromosome 6	Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.	mondoexuq1wtf	Ring chromosome type 6|rose cluster 6|Ring 6|Ring chromosome 6 syndrome|R6|chromosome 6 ring											NCIT:C121985|SCTID:765488003|GARD:0006095|MESH:C537763|ICD10:Q93.2|Orphanet:1448														https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6				owl:Class
MONDO:0032791	biolink:NamedThing	Coffin-Siris syndrome 10		mondoexuq1wtf	CSS10|COFFIN-SIRIS SYNDROME 10											OMIM:618506																		owl:Class
MONDO:0013874	biolink:NamedThing	glucocorticoid deficiency 4	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.	mondoexuq1wtf	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in NNT|NNT familial glucocorticoid deficiency|glucocorticoid deficiency 4|GCCD4|glucocorticoid deficiency type 4											OMIM:614736|UMLS:C3553587|NCIT:C131452																		owl:Class
MONDO:0006746	biolink:NamedThing	endomyocardial fibrosis	A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.	mondoexuq1wtf	obscure African cardiomyopathy|endomyocardial sclerosis|African endomyocardial fibrosis											MESH:D004719|GARD:0006340|ICD9:425.0|NCIT:C34585|MedDRA:10014800|COHD:439399|DOID:12932|EFO:1000921														https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis				owl:Class
MONDO:0011838	biolink:NamedThing	Bothnia retinal dystrophy	Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	mondoexuq1wtf	Västerbotten dystrophy|Vasterbotten dystrophy|Bothnia retinal dystrophy|VC$sterbotten dystrophy											SCTID:715647007|ICD10:H35.5|DOID:0050683|MESH:C564392|Orphanet:85128|UMLS:C1843816|OMIM:607475																		owl:Class
MONDO:0009014	biolink:NamedThing	cornea plana 2	Any cornea plana in which the cause of the disease is a mutation in the KERA gene.	mondoexuq1wtf	cornea plana caused by mutation in KERA|cornea plana 2|CNA2|KERA cornea plana|cornea plana 2, autosomal recessive|cornea plana type 2											MESH:C565677|UMLS:C1857574|OMIM:217300																		owl:Class
MONDO:0008498	biolink:NamedThing	strabismus, susceptibility to		mondoexuq1wtf	strabismus, susceptibility to, 1|strabismus, susceptibility to											OMIM:185100|UMLS:C1861449																		owl:Class
MONDO:0001230	biolink:NamedThing	acute orbital inflammation		mondoexuq1wtf	acute inflammation of orbit											ICD9:376.0|COHD:433486|ICD9:376.00|SCTID:20551005|DOID:11230|ICD10:H05.0|ICD10:H05.00																		owl:Class
MONDO:0025086	biolink:NamedThing	hip dysplasia, canine	A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.	mondoexuq1wtf	canine hip dysplasia|dysplasia, canine hip											MESH:D006619|UMLS:C0019556																		owl:Class
MONDO:0001141	biolink:NamedThing	middle ear cholesterol granuloma	As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.	mondoexuq1wtf	cholesterin granuloma of middle ear|cholesterin granuloma											SCTID:28371001|ICD9:385.82|DOID:10852|UMLS:C0155492																		owl:Class
MONDO:0002540	biolink:NamedThing	childhood oligodendroglioma	An oligodendroglioma that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	oligodendroglioma of childhood|pediatric oligodendroglioma|oligodendroglioma											DOID:3183|UMLS:C0280475|NCIT:C4045																		owl:Class
MONDO:0017281	biolink:NamedThing	renal caliceal diverticuli-deafness syndrome		mondoexuq1wtf												Orphanet:2838|UMLS:CN202834																		owl:Class
MONDO:0005142	biolink:NamedThing	Pseudomonas aeruginosa CF5 infection	A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.	mondoexuq1wtf												EFO:0001077																		owl:Class
MONDO:0009604	biolink:NamedThing	methemoglobin reductase deficiency		mondoexuq1wtf	methemoglobin reductase deficiency|TPNH-methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency											SCTID:234397008|UMLS:C0472786|OMIM:250700|MESH:C563171																		owl:Class
MONDO:0009275	biolink:NamedThing	neonatal hemochromatosis	Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4	mondoexuq1wtf	neonatal Hepatitis|Nh|alloimmune Hepatitis, congenital|giant cell Hepatitis, formerly|giant cell Hepatitis (formerly)|giant cell Hepatitis|Nhc|hemochromatosis neonatal|hemochromatosis, neonatal|idiopathic neonatal hemochromatosis|neonatal Hepatitis, formerly|neonatal hepatitis (formerly)											Orphanet:446|GARD:0007172|MESH:C536394|OMIM:231100|ICD10:E83.1|NCIT:C129980|UMLS:C0268059														https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis				owl:Class
MONDO:0100160	biolink:NamedThing	alcoholic ketoacidosis	An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.	mondoexuq1wtf	alcoholic acidosis|alcoholic ketosis					In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type.																								owl:Class
MONDO:0006022	biolink:NamedThing	acidosis disorder	An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.	mondoexuq1wtf	acidosis											EFO:1000014|COHD:435517|ICD9:276.2|HP:0001941|SCTID:51387008																		owl:Class
MONDO:0012955	biolink:NamedThing	lung cancer susceptibility 4		mondoexuq1wtf	LNCR4|lung cancer susceptibility 4											UMLS:C2675479|OMIM:612593																		owl:Class
MONDO:0006803	biolink:NamedThing	inferior myocardial infarction	Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.	mondoexuq1wtf												DOID:5850|MedDRA:10057546|EFO:1000983|UMLS:C0340305|MESH:D056989																		owl:Class
MONDO:0006468	biolink:NamedThing	thyroid gland undifferentiated (anaplastic) carcinoma	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.	mondoexuq1wtf	undifferentiated carcinoma of the thyroid|undifferentiated (anaplastic) thyroid gland carcinoma|anaplastic thyroid gland carcinoma|pleomorphic thyroid gland carcinoma|thyroid gland undifferentiated carcinoma|undifferentiated thyroid tumor|anaplastic carcinoma of the thyroid|anaplastic carcinoma of thyroid|thyroid carcinoma, anaplastic|metaplastic thyroid gland carcinoma|anaplastic thyroid carcinoma|anaplastic carcinoma of the thyroid gland|thyroid gland carcinosarcoma|undifferentiated carcinoma of thyroid gland|undifferentiated thyroid gland carcinoma|undifferentiated thyroid carcinoma|anaplastic thyroid cancer|sarcomatoid thyroid gland carcinoma|undifferentiated carcinoma of the thyroid gland|undifferentiated carcinoma of thyroid|undifferentiated (anaplastic) thyroid gland cancer|THAP|Dedifferentiated thyroid gland carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|thyroid cancer, anaplastic|anaplastic carcinoma of thyroid gland											ONCOTREE:THAP|NCIT:C3878|UMLS:C0238461|EFO:1000595|MESH:D065646|HP:0011779|DOID:0080522|SCTID:255031003|Orphanet:142|ICD10:C73|MedDRA:10002240|GARD:0000664																		owl:Class
MONDO:0011253	biolink:NamedThing	craniomicromelic syndrome	Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.	mondoexuq1wtf	craniomicromelic syndrome											Orphanet:1524|SCTID:725098001|UMLS:C1865184|GARD:0001583|ICD10:Q87.0|OMIM:602558|MESH:C566522														https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome				owl:Class
MONDO:0022568	biolink:NamedThing	bidirectional tachycardia		mondoexuq1wtf	bidirectional ventricular tachycardia											UMLS:C2930902|MESH:C535438|GARD:0000878														https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia				owl:Class
MONDO:0011587	biolink:NamedThing	cataract 25	A cataract that has material basis in variation in the region 15q21-q22.	mondoexuq1wtf	cataract, central pouch-like, with sutural opacities|central pouch-like cataract with sutural opacities|CCSSO|central saccular cataract with sutural opacities|cataract, central saccular, with sutural opacities|CTRCT25|cataract type 25|cataract 25											OMIM:605728|MESH:C565301|ICD10:Q12.0|DOID:0110254																		owl:Class
MONDO:0012977	biolink:NamedThing	autosomal recessive nonsyndromic deafness 1B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 1B|deafness, autosomal recessive 1B|DFNB1B|deafness, autosomal recessive type 1B|autosomal recessive nonsyndromic deafness caused by mutation in GJB6|autosomal recessive deafness 1B|Autosomal recessive deafness type 1B|GJB6 autosomal recessive nonsyndromic deafness											OMIM:612645|UMLS:CN674504|MESH:C567213|GTR:AN1075764|UMLS:C2675235|ICD10:H90.3|DOID:0110476																		owl:Class
MONDO:0042717	biolink:NamedThing	Saul-Wilkes-Stevenson syndrome		mondoexuq1wtf	Saul Wilkes Stevenson syndrome											UMLS:C2931266|GARD:0000161|MESH:C536617																		owl:Class
MONDO:0019535	biolink:NamedThing	drug-induced autoimmune hemolytic anemia	Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.	mondoexuq1wtf	drug-induced AIHA											SCTID:309742004|Orphanet:90037|ICD10:D59.0																		owl:Class
MONDO:0032894	biolink:NamedThing	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY|NEDESBA											OMIM:618741																		owl:Class
MONDO:0009583	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, Ohdo type	Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.	mondoexuq1wtf	Ohdo-Madokoro-Sonoda syndrome|BMRS, Ohdo type|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo blepharophimosis syndrome|blepharophimosis syndrome, Ohdo type|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome											SCTID:412787009|UMLS:C0796094|ICD9:525.8|ICD9:374.89|Orphanet:2728|OMIM:249620																		owl:Class
MONDO:0019653	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes		mondoexuq1wtf												Orphanet:93216|ICD10:N04.0|UMLS:CN206526																		owl:Class
MONDO:0021809	biolink:NamedThing	primary dysautonomia	Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.	mondoexuq1wtf	dysautonomia|dysautonomia, primary|primary dysautonomia|Dysautonomias|Dysautonomias, primary											MESH:D054969																		owl:Class
MONDO:0010096	biolink:NamedThing	tardive dyskinesia		mondoexuq1wtf	tardive dyskinesia|tardive dyskinesia (disease)		tardive dyskinesia (disease)									UMLS:C0686347|OMIM:272620|SCTID:102449007|HP:0040141																		owl:Class
MONDO:0016682	biolink:NamedThing	giant cell glioblastoma	A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)	mondoexuq1wtf	Monstrocellular sarcoma|Monstrocellular sarcoma [obs]											UMLS:C0334593|NCIT:C4325|Orphanet:251579|DOID:3074|ICDO:9441/3|UMLS:C0334588|ICD10:C71.9																		owl:Class
MONDO:0018016	biolink:NamedThing	classic neuroendocrine tumor of appendix	Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.	mondoexuq1wtf	classic appendiceal neuroendocrine tumor|classic appendix neuroendocrine tumor											ICD10:D37.3|Orphanet:329977|UMLS:CN204231																		owl:Class
MONDO:0003305	biolink:NamedThing	cellular neurofibroma	A neurofibroma characterized by the presence of areas with increased cellularity.	mondoexuq1wtf	cellular neurofibroma											UMLS:C1516371|NCIT:C41427|DOID:5152																		owl:Class
MONDO:0024459	biolink:NamedThing	Aeromonas hydrophila intestinal disease		mondoexuq1wtf	intestinal infection caused by Aeromonas hydrophila|intestinal infection due to Aeromonas hydrophila											SCTID:446988001|UMLS:C2960005|ICD9:008.47																		owl:Class
MONDO:0016772	biolink:NamedThing	annular lichen planus	Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.	mondoexuq1wtf	annular LP											ICD10:L43.8|UMLS:C0406363|Orphanet:254424|GARD:0012674|SCTID:201000006														https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus				owl:Class
MONDO:0008626	biolink:NamedThing	ureter, bifid or double		mondoexuq1wtf	ureter, bifid or double											MESH:C566012|UMLS:C1860586|OMIM:191550																		owl:Class
MONDO:0007896	biolink:NamedThing	acute monocytic leukemia	Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).	mondoexuq1wtf	monocytic leukemia|AML-M5|acute monoblastic/monocytic leukemia|acute monocytic leukemia (FAB M5B)|leukemia, monocytic, malignant|acute monocytic leukemia, morphology|leukemia, acute monocytic|acute monocytic leukemia, FAB M5|AML M5|acute monocytic leukemia without mention of remission|acute myeloblastic leukemia type 5|acute monoblastic leukemia and acute monocytic leukemia|acute monocytic leukemia, morphology (morphologic abnormality)|acute monocytic leukemia|monocytic leukemia, acute|acute monocytic leukemia (FAB M5b)|acute monoblastic leukemia											EFO:0000221|MedDRA:10000871|ONCOTREE:AMOL|UMLS:C0023465|GARD:0000525|Orphanet:514|DOID:8864|ICD10:C92.7|ICD9:206.0|MedDRA:10059439|UMLS:C1318544|MESH:D007948|NCIT:C4861|CSP:2004-2820|ICDO:9891/3|SCTID:413441006|COHD:135768|OMIM:151380														https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia				owl:Class
MONDO:0011194	biolink:NamedThing	Alzheimer disease 5		mondoexuq1wtf	Alzheimer's disease type 5|Ad5|AD5|Alzheimer disease, familial, 5|Alzheimer disease 5|Alzheimer's disease 5|Alzheimer disease type 5|Alzheimer disease, familial 5											UMLS:C1865868|ICD10:G30|OMIM:602096|DOID:0110037|MESH:C566578																		owl:Class
MONDO:0009757	biolink:NamedThing	Niemann-Pick disease, type C1	Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.	mondoexuq1wtf	Niemann-Pick disease, type C|Niemann-Pick disease, chronic neuronopathic form|Niemann-Pick disease, subacute juvenile form|Niemann-PICK disease, type C1|Niemann-Pick disease, type C1|type C1 Niemann-Pick disease|Niemann-Pick disease without sphingomyelinase deficiency|NPC1|Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease, nova Scotian type|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|Niemann-Pick disease, type D|Niemann-Pick disease type C1											UMLS:C3179455|SCTID:18927009|OMIM:257220|ICD10:E75.2|NCIT:C126864|GARD:0007207|DOID:0070113																		owl:Class
MONDO:0004268	biolink:NamedThing	subareolar duct papillomatosis		mondoexuq1wtf	subareolar duct papillomatosis											DOID:7533																		owl:Class
MONDO:0025489	biolink:NamedThing	enzootic bovine leukosis	A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.	mondoexuq1wtf	leukosis, bovine|lymphomas, bovine|bovine lymphoma|lymphosarcomas, bovine|bovine Lymphomas|bovine leukosis|leukemia, bovine|bovine Lymphosarcomas|leukoses, enzootic bovine|bovine lymphosarcoma|leukemias, bovine|lymphoma, bovine|bovine Leukoses|bovine leukosis, enzootic|enzootic bovine Leukoses|leukoses, bovine|bovine leukemias|bovine leukemia|lymphosarcoma, bovine|leukosis, enzootic bovine|bovine Leukoses, enzootic											MESH:D016583|EFO:1001315																		owl:Class
MONDO:0020411	biolink:NamedThing	aorto-left ventricular tunnel		mondoexuq1wtf												ICD10:Q20.8|Orphanet:99071																		owl:Class
MONDO:0033015	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 5		mondoexuq1wtf	erythrokeratodermia variabilis ET progressiva 5|EKVP5											DOID:0080251|OMIM:617756																		owl:Class
MONDO:0013603	biolink:NamedThing	myopia 20, autosomal dominant		mondoexuq1wtf	myopia 20, autosomal dominant|MYP20											OMIM:614166|UMLS:C3279996																		owl:Class
MONDO:0100409	biolink:NamedThing	acute myeloid leukemia, t(3;5)(q25;q34)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)	mondoexuq1wtf	AML, t(3;5)(q25;q34)											NCIT:C7600																		owl:Class
MONDO:0003946	biolink:NamedThing	vaginal villous adenoma	An adenoma that arises from the vagina and is characterized by a villous architectural pattern.	mondoexuq1wtf	vagina villous adenoma|vaginal villous adenoma											DOID:6613|NCIT:C40259|UMLS:C1519936																		owl:Class
MONDO:0013020	biolink:NamedThing	narcolepsy 5, susceptibility to		mondoexuq1wtf	NRCLP5|narcolepsy 5, susceptibility to											UMLS:C2748508|OMIM:612851																		owl:Class
MONDO:0032664	biolink:NamedThing	ciliary dyskinesia, primary, 40		mondoexuq1wtf	Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus|CILD40|CILIARY DYSKINESIA, PRIMARY, 40											OMIM:618300																		owl:Class
MONDO:0020388	biolink:NamedThing	double outlet right ventricle with non-committed subpulmonary ventricular septal defect		mondoexuq1wtf	DORV with non-committed subpulmonary VSD											ICD10:Q20.1|Orphanet:99046																		owl:Class
MONDO:0001722	biolink:NamedThing	central pterygium		mondoexuq1wtf												ICD9:372.43|SCTID:43300008|COHD:376411|UMLS:C0155156|DOID:13473																		owl:Class
MONDO:0009409	biolink:NamedThing	hypervitaminosis a, susceptibility to		mondoexuq1wtf	hypervitaminosis a, susceptibility to											OMIM:240150																		owl:Class
MONDO:0008918	biolink:NamedThing	carnitine-acylcarnitine translocase deficiency	Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.	mondoexuq1wtf	CACT deficiency|carnitine-acylcarnitine translocase deficiency|CARNITINE-acylcarnitine translocase deficiency|Cact deficiency|CACTD											SCTID:238003000|OMIM:212138|GARD:0001123|DOID:0111585|UMLS:C0342791|ICD10:E71.3|MESH:C562812|Orphanet:159|NCIT:C133086														https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency				owl:Class
MONDO:0017921	biolink:NamedThing	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	mondoexuq1wtf	Tungland-Bellman syndrome|hearing loss and familial salivary gland insensitivity to aldosterone|hearing loss insensitivity to aldosterone|Tunglang savage Bellman syndrome											Orphanet:3225|SCTID:716239006|MESH:C536927|GARD:0000422																		owl:Class
MONDO:0013510	biolink:NamedThing	melanoma, cutaneous malignant, susceptibility to, 6		mondoexuq1wtf	CMM6|melanoma, cutaneous malignant, susceptibility to, 6|susceptibility to cutaneous malignant melanoma 6|melanoma, cutaneous malignant, susceptibility to, type 6											OMIM:613972																		owl:Class
MONDO:0005670	biolink:NamedThing	blackwater fever	A complication of malaria resulting from hemolysis.	mondoexuq1wtf	malarial hemoglobinuria|blackwater fever|hemoglobinuric, malaria|Black water fever											EFO:0007172|DOID:14068|UMLS:C0005681|ICD9:084.8|SCTID:56625005|NCIT:C34426|MESH:D001742																		owl:Class
MONDO:0016444	biolink:NamedThing	primary anetoderma	Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.	mondoexuq1wtf	primary macular atrophy											UMLS:C0406550|SCTID:238829001|ICD10:L90.2|MESH:D057088|Orphanet:228272|ICD10:L90.1																		owl:Class
MONDO:0005581	biolink:NamedThing	AVL induced bursal lymphoma	Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds.	mondoexuq1wtf												EFO:0005923																		owl:Class
MONDO:0009766	biolink:NamedThing	oculocerebral hypopigmentation syndrome of Preus		mondoexuq1wtf	oculocerebral hypopigmentation syndrome type Preus|oculocerebral hypopigmentation syndrome of Preus											UMLS:C2931646|SCTID:716174001|GARD:0004034|Orphanet:2720|OMIM:257790																		owl:Class
MONDO:0001986	biolink:NamedThing	Argyll Robertson pupil		mondoexuq1wtf	atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical											DOID:14523|UMLS:C0155375|ICD10:H57.01|SCTID:21011008|ICD9:379.45																		owl:Class
MONDO:0012734	biolink:NamedThing	SERKAL syndrome	SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	mondoexuq1wtf	46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL syndrome|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|SERKAL											NCIT:C123726|Orphanet:139466|ICD10:Q87.8|OMIM:611812|SCTID:723720008|MESH:C567517|UMLS:C2678492|GARD:0010302																		owl:Class
MONDO:0018620	biolink:NamedThing	hypothalamic adipsic hypernatraemia syndrome		mondoexuq1wtf												ICD10:E23.3|UMLS:CN237660|Orphanet:443101																		owl:Class
MONDO:0022535	biolink:NamedThing	autonomic facial cephalgia		mondoexuq1wtf	carotidynia|Carotodynia|Carotidynia|Autonomic facial cephalgia											GARD:0010369|UMLS:C0238902|SCTID:230482003|ICD9:337.09																		owl:Class
MONDO:0005527	biolink:NamedThing	toxic encephalopathy	A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.	mondoexuq1wtf	neurotoxicity syndromes|neurotoxicity|neurotoxicity syndrome											ICD10:G92|GARD:0007199|SCTID:28394000|COHD:373764|ICD9:349.82|NCIT:C27961|MESH:D020258|EFO:0005595|DOID:3602|Wikipedia:Toxic_encephalopathy																		owl:Class
MONDO:0060551	biolink:NamedThing	cerebellar atrophy, developmental delay, and seizures		mondoexuq1wtf	cerebellar atrophy, developmental delay, and seizures|CADEDS											OMIM:617643|UMLS:C4539985																		owl:Class
MONDO:0001582	biolink:NamedThing	cicatricial ectropion		mondoexuq1wtf												DOID:12782|ICD9:374.14|UMLS:C0155196|COHD:376699|SCTID:28914006																		owl:Class
MONDO:0007996	biolink:NamedThing	microphthalmia, isolated, with corectopia		mondoexuq1wtf	microphthalmia with myopia and corectopia|microphthalmia, isolated, with corectopia|MCOPCR|microphthalmia and corectopia											UMLS:C1834918|MESH:C563581|OMIM:156900																		owl:Class
MONDO:0024277	biolink:NamedThing	neonatal thrombocytopenia		mondoexuq1wtf	purpura of newborn|neonatal purpura|neonatal thrombocytopenia											MESH:D054098|SCTID:82835005																		owl:Class
MONDO:0033664	biolink:NamedThing	Kilquist syndrome	An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.	mondoexuq1wtf	KILQS											OMIM:619080																		owl:Class
MONDO:0021041	biolink:NamedThing	pleural solitary fibrous tumor	A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.	mondoexuq1wtf	pleural solitary fibrous tumor|pleural fibroma|fibroma of pleura|fibroma of the pleura|solitary fibrous tumor of pleura|localized fibrous mesothelioma of the pleura|solitary fibrous tumor of the pleura|pleural cavity solitary fibrous tumor|localized fibrous mesothelioma of pleura|pleura solitary fibrous tumor|pleural Submesothelial fibroma											SCTID:254646001|EFO:1000835|NCIT:C4457																		owl:Class
MONDO:0008392	biolink:NamedThing	Roussy-Levy syndrome		mondoexuq1wtf	hereditary areflexic dystasia, Roussy-Lévy type|Roussy levy syndrome|Charcot-Marie-Tooth disease (variant)|Roussy-levy syndrome|Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|hereditary areflexic dystasia|HMSN I|hereditary motor sensory neuropathy I|hereditary areflexic dystasia, Roussy-levy type|Roussy-Lévy syndrome|Charcot-Marie-Tooth-Roussy-levy disease|Roussy levy hereditary areflexic dystasia											ICD10:G60.0|OMIM:180800|GARD:0004741|Orphanet:3115|SCTID:45853006|ICD9:334.3																		owl:Class
MONDO:0016451	biolink:NamedThing	idiopathic hypersomnia with long sleep time	Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.	mondoexuq1wtf												ICD10:F51.1|UMLS:C2711059|ICD9:327.11|ICD10:G47.11|Orphanet:228315|SCTID:442416002																		owl:Class
MONDO:0007094	biolink:NamedThing	amelogenesis imperfecta type 1A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.	mondoexuq1wtf	AI1A|local hypoplastic amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta local hypoplastic|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta, type IA|amelogenesis imperfecta, type 1A|amelogenesis imperfecta type IA|amelogenesis imperfecta hypoplastic type IA					Not in the OMIM series.						MESH:C538240|GARD:0000645|DOID:0110054|OMIM:104530|ICD10:K00.5														https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic				owl:Class
MONDO:0024537	biolink:NamedThing	Brown-Vialetto-van Laere syndrome 1	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.	mondoexuq1wtf	Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3|pontobulbar palsy with deafness|SLC52A3 Brown-Vialetto-van Laere syndrome|BVVLS1|bulbar palsy, progressive, with sensorineural deafness|BROWN-Vialetto-VAN Laere syndrome 1											NCIT:C133724|UMLS:CN029849|OMIM:211530																		owl:Class
MONDO:0044912	biolink:NamedThing	metastatic malignant neoplasm in the spinal cord	A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.	mondoexuq1wtf	Metastatic neoplasm to the spinal cord|Secondary malignant tumor to the spinal cord|metastasis to spinal cord|Metastatic tumor to the spinal cord|Metastatic malignant neoplasm to the spinal cord|Metastatic malignant neoplasm in the spinal cord|Secondary malignant neoplasm to the spinal cord											SCTID:94600009|NCIT:C4585|UMLS:C0347016																		owl:Class
MONDO:0003530	biolink:NamedThing	aggressive digital papillary adenocarcinoma		mondoexuq1wtf												ONCOTREE:ADPA|DOID:5590																		owl:Class
MONDO:0021915	biolink:NamedThing	arakawa syndrome 2	A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.	mondoexuq1wtf	Arakawa syndrome II|methylcobalamin deficiency, cblG type|Arakawa's syndrome 2|methionine synthase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|N5-methylhomocysteine transferase deficiency|homocystinuria-megaloblastic Anemia, cblG complementation type|tetrahydrofolate methyltransferase deficiency|Arakawa's syndrome II											UMLS:C0268611|NCIT:C99081|SCTID:89579000|MESH:C537426																		owl:Class
MONDO:0008084	biolink:NamedThing	neuropathy, congenital, with arthrogryposis multiplex		mondoexuq1wtf	neuropathy, congenital, with arthrogryposis multiplex|congenital non-progressive peripheral neuropathy with arthrogryposis multiplex											GARD:0010086|MESH:C535714|UMLS:C1834206|OMIM:162370														https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex				owl:Class
MONDO:0005886	biolink:NamedThing	oral candidiasis	Infection of the mucosal lining of the mouth with the fungus Candida albicans.	mondoexuq1wtf	thrush|mouth candidiasis|candidiasis of mouth|thrush, oral|oral moniliasis											EFO:0007406|SCTID:79740000|MESH:D002180|COHD:29735|ICD10:B37.0|UMLS:C0006849|NCIT:C28137|DOID:14262|ICD10:B37.9|ICD9:112.0																		owl:Class
MONDO:0034127	biolink:NamedThing	IgA pemphigus		mondoexuq1wtf												Orphanet:555905																		owl:Class
MONDO:0024281	biolink:NamedThing	juvenile chronic polyarthritis	A group of conditions used to describe polyarthritis occurring in children.	mondoexuq1wtf	juvenile chronic polyarthritis											NCIT:C26979																		owl:Class
MONDO:0010988	biolink:NamedThing	aplasia cutis-myopia syndrome	Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	mondoexuq1wtf	Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia											Orphanet:1117|GARD:0000756|SCTID:720499004|ICD10:Q84.8|MESH:C563394|OMIM:601075														https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia				owl:Class
MONDO:0002127	biolink:NamedThing	urethral stricture	Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.	mondoexuq1wtf	urethral stricture (disease)|urethral stricture		urethral stricture (disease)									DOID:1829|SCTID:76618002|COHD:195590|ICD9:598.8|UMLS:C0041974|HP:0012227|ICD9:598.9|MESH:D014525																		owl:Class
MONDO:0033662	biolink:NamedThing	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy		mondoexuq1wtf	NEDMISB											OMIM:619076																		owl:Class
MONDO:0007328	biolink:NamedThing	choroidal osteoma, bilateral		mondoexuq1wtf	choroidal osteoma, bilateral											OMIM:118865|MESH:C566124|UMLS:C1861558																		owl:Class
MONDO:0001090	biolink:NamedThing	acute anterolateral myocardial infarction	Acute form of anterolateral myocardial infarction.	mondoexuq1wtf	anterolateral myocardial infarction, acute|acute myocardial infarction of anterolateral wall|acute anterolateral myocardial infarction					Editor note: TODO: positional superclass						SCTID:70211005|ICD9:410.0|ICD9:410.02|ICD9:410.01|DOID:10651|ICD9:410.00|UMLS:C0155627																		owl:Class
MONDO:0008644	biolink:NamedThing	velocardiofacial syndrome	A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.	mondoexuq1wtf	VCF-velocardiofacial syndrome|chromosome 22Q11.2 deletion syndrome|Shprintzen syndrome|22q11 deletion syndrome|Vcf syndrome|deletion 22q11.2 syndrome|velocardiofacial syndrome|Shprintzen Vcf syndrome											ICD9:758.32|DOID:12583|OMIM:192430|ICD10:Q93.81|UMLS:CN205308																		owl:Class
MONDO:0010242	biolink:NamedThing	fetal akinesia syndrome, X-linked		mondoexuq1wtf	fetal akinesia syndrome, X-linked|fetal akinesia syndrome X-linked|X-linked form of fetal akinesia syndrome|polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures											OMIM:300073|MESH:C537921|UMLS:C1848171|GARD:0002293														https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked				owl:Class
MONDO:0032875	biolink:NamedThing	short stature and microcephaly with genital anomalies		mondoexuq1wtf	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES|SSMGA											OMIM:618702																		owl:Class
MONDO:0017945	biolink:NamedThing	ABetaL34V amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.	mondoexuq1wtf	ABetaL34V-related amyloidosis|HCHWA, Piedmont type|ABeta amyloidosis, Piedmont type|hereditary cerebral hemorrhage with amyloidosis, Piedmont type											ICD10:E85.4+|Orphanet:324703|ICD10:I68.0*																		owl:Class
MONDO:0007809	biolink:NamedThing	ichthyosis hystrix gravior		mondoexuq1wtf	ichthyosis hystrix gravior|ichthyosis, Lambert type|Lambert type ichthyosis|porcupine Man											OMIM:146600|SCTID:254174005|ICD10:Q80.0|MESH:C536087|GARD:0009497|Orphanet:79504|ICD9:757.39														https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior				owl:Class
MONDO:0012304	biolink:NamedThing	photoparoxysmal response 2		mondoexuq1wtf	photoparoxysmal response 2|PPR2|photoparoxysmal response with or without idiopathic generalized epilepsy											UMLS:C1835967|OMIM:609572																		owl:Class
MONDO:0002134	biolink:NamedThing	physiological sexual disorder	Physiological disturbances in normal sexual performance in either the male or the female.	mondoexuq1wtf	sexual dysfunctions, physiological|sexual dysfunction|sexual disorders, physiological|Sex disorders|physiological sexual disorder|physiological sexual disorders|physiological sexual dysfunctions|sexual disorder, physiological|physiological sexual dysfunction											ICD10:R37|DOID:1876|ICD10:F52.9|MESH:D012735|UMLS:C0549622																		owl:Class
MONDO:0018900	biolink:NamedThing	corticosteroid-sensitive aseptic abscess syndrome	Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.	mondoexuq1wtf	aseptic abscesses syndrome|corticosteroid-sensitive aseptic abscesses|disseminated aseptic abscesses|aseptic systemic abscesses											SCTID:720751000|Orphanet:54251|GARD:0010946|UMLS:CN205271																		owl:Class
MONDO:0030920	biolink:NamedThing	intellectual disability, autosomal dominant 54		mondoexuq1wtf	autosomal dominant mental retardation 54|MRD54|intellectual disability, autosomal dominant 54|autosomal dominant intellectual disability 54|mental retardation, autosomal dominant 54											EFO:0009164|OMIM:617799|DOID:0080230																		owl:Class
MONDO:0006398	biolink:NamedThing	retroperitoneal inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	mondoexuq1wtf	retroperitoneal inflammatory myofibroblastic tumor|retroperitoneal space inflammatory myofibroblastic tumor											NCIT:C39741|UMLS:C1514921|EFO:1000510																		owl:Class
MONDO:0017964	biolink:NamedThing	46,XX disorder of sex development induced by exogenous maternal-derived androgen		mondoexuq1wtf	46,XX DSD induced by exogenous maternal-derived androgen											ICD10:Q56.2|Orphanet:325099|UMLS:CN227228																		owl:Class
MONDO:0002136	biolink:NamedThing	eczematous dermatitis of eyelid		mondoexuq1wtf												COHD:437557|UMLS:C0155177|ICD9:373.31|ICD10:H01.13|DOID:1893|SCTID:36259009																		owl:Class
MONDO:0012179	biolink:NamedThing	narcolepsy 3		mondoexuq1wtf	narcolepsy 3|NRCLP3											OMIM:609039|UMLS:C1836907																		owl:Class
MONDO:0013706	biolink:NamedThing	intellectual disability, autosomal recessive 23		mondoexuq1wtf	MRT23|intellectual disability, autosomal recessive 23|mental retardation, autosomal recessive 23											UMLS:C3280542|OMIM:614344																		owl:Class
MONDO:0017766	biolink:NamedThing	disorder of manganese transport		mondoexuq1wtf												UMLS:CN227208|ICD10:E83.8|Orphanet:309851																		owl:Class
MONDO:0018156	biolink:NamedThing	3q26q27 microdeletion syndrome		mondoexuq1wtf	monosomy 3q26-q27|3q26-q27microdeletion syndrome|monosomy 3q26q27|Del(3)(q26q27)											UMLS:CN204590|Orphanet:356947|ICD10:Q93.5																		owl:Class
MONDO:0017884	biolink:NamedThing	papillary renal cell carcinoma	Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.	mondoexuq1wtf	chromophil carcinoma of the kidney|papillary (chromophil) renal cell carcinoma|papillary renal cell carcinoma, multiple - (subtype)|papillary renal cell adenocarcinoma|chromophil renal cell carcinoma|renal cell carcinoma, papillary, type 1|RCCP|sporadic papillary renal cell carcinoma|papillary renal cell carcinoma|chromophil carcinoma of kidney|papillary kidney carcinoma|chromophil RCC|HPRCC|papillary renal cell carcinoma, sporadic - (subtype)|renal adenocarcinoma|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal cell cancer|RCCP1|papillary renal cell carcinoma, familial - (subtype)|papillary renal carcinoma, malignant - (subtype)|renal cell carcinoma, papillary, 1											NCIT:C6975|DOID:4465|SCTID:733608000|GARD:0009572|UMLS:C1306837|Orphanet:319298|Orphanet:47044|ONCOTREE:PRCC|UMLS:CN205129|GARD:0009575|ICD10:C64|OMIM:605074|UMLS:C1336078|EFO:0000640														https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma				owl:Class
MONDO:0014997	biolink:NamedThing	nephronophthisis 20	Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.	mondoexuq1wtf	MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1|nephronophthisis type 20|NPHP20|nephronophthisis 20											UMLS:C4310640|DOID:0111127|OMIM:617271																		owl:Class
MONDO:0006393	biolink:NamedThing	rectal traditional serrated adenoma	An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.	mondoexuq1wtf	rectal serrated adenoma type II|rectal serrated adenoma|rectal TSA|rectal traditional serrated adenoma											UMLS:C3272790|NCIT:C96463|EFO:1000503																		owl:Class
MONDO:0006377	biolink:NamedThing	pleural biphasic mesothelioma	Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.	mondoexuq1wtf	pleural biphasic mesothelioma											UMLS:C1709570|EFO:1000483|NCIT:C45665																		owl:Class
MONDO:0006109	biolink:NamedThing	malignant biphasic mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.	mondoexuq1wtf	malignant mixed mesothelioma|biphasic mesothelioma|mixed mesothelioma|mesothelioma, biphasic, malignant (morphologic abnormality)|mesothelioma, biphasic, malignant|malignant biphasic mesothelioma, malignant|malignant biphasic mesothelioma											NCIT:C4282|DOID:4486|UMLS:C0334515|ICDO:9053/3|EFO:1000124																		owl:Class
MONDO:0007715	biolink:NamedThing	hemolytic poikilocytic anemia due to reduced ankyrin binding sites		mondoexuq1wtf	hemolytic poikilocytic anemia due to reduced ankyrin binding sites											MESH:C564197|OMIM:141700|UMLS:C1841622																		owl:Class
MONDO:0003968	biolink:NamedThing	asynchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.	mondoexuq1wtf	asynchronous multifocal osteosarcoma											DOID:6697|NCIT:C6472|UMLS:C1332342																		owl:Class
MONDO:0006475	biolink:NamedThing	unclassified renal cell carcinoma	A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology.	mondoexuq1wtf	unclassified renal cell carcinoma|URCC|unclassified renal cell cancer											ONCOTREE:URCC|EFO:1000603|UMLS:C1336853|NCIT:C27892																		owl:Class
MONDO:0010640	biolink:NamedThing	Leber optic atrophy, susceptibility to		mondoexuq1wtf	Loas|Leber hereditary optic neuropathy, modifier of|Lhon, modifier of|Leber optic atrophy, susceptibility to											OMIM:308905																		owl:Class
MONDO:0009237	biolink:NamedThing	focal epithelial hyperplasia	Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.	mondoexuq1wtf	heck disease|multifocal epithelial hyperplasia|focal epithelial hyperplasia, oral|FEH, oral|heck's disease											NCIT:C97083|EFO:0007275|ICD9:528.79|DOID:5362|MESH:D017573|SCTID:6121001|OMIM:229045|UMLS:C0206067																		owl:Class
MONDO:0013256	biolink:NamedThing	chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.	mondoexuq1wtf	monosomy 15q24|WITKOS|chromosome 15q24 deletion syndrome|15q24 microdeletion syndrome|Witteveen-Kolk syndrome|Del(15)(q24)|chromosome 15Q24 Duplication syndrome											GARD:0012219|UMLS:C3150674|SCTID:699308002|OMIM:613406|MESH:C579849|UMLS:CN237818|ICD10:Q93.5|DOID:0060395|Orphanet:94065																		owl:Class
MONDO:0032775	biolink:NamedThing	neurodevelopmental disorder with seizures and speech and walking impairment		mondoexuq1wtf	NEDSSWI|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT											OMIM:618480																		owl:Class
MONDO:0010469	biolink:NamedThing	epsilon-trimethyllysine hydroxylase deficiency		mondoexuq1wtf	AUTSX6|autism, susceptibility to, X-linked 6|susceptibility to X-linked autism 6|EPSILON-trimethyllysine HYDROXYLASE deficiency|TMLHED|epsilon-trimethyllysine hydroxylase deficiency											OMIM:300872|UMLS:C3550875																		owl:Class
MONDO:0011037	biolink:NamedThing	renal dysplasia, cystic, susceptibility to		mondoexuq1wtf	CYSRD|renal dysplasia, cystic, susceptibility to|diffuse cystic renal dysplasia|renal dysplasia diffuse cystic											GARD:0004658|MESH:C537755|OMIM:601331|DOID:0111682																		owl:Class
MONDO:0012040	biolink:NamedThing	inflammatory bowel disease 9	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.	mondoexuq1wtf	inflammatory bowel disease 9|inflammatory bowel disease type 9|IBD9											UMLS:C1838019|MESH:C563926|OMIM:608448|DOID:0110886																		owl:Class
MONDO:0016454	biolink:NamedThing	severe early-onset axonal neuropathy due to NEFL deficiency	Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	mondoexuq1wtf	severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|SEOAN due to NEFL deficiency|autosomal recessive Charcot-Marie-Tooth disease type 2B5|AR-CMT2B5|Charcot-Marie-Tooth disease type 2B5											Orphanet:228374|ICD10:G60.0																		owl:Class
MONDO:0000967	biolink:NamedThing	conventional lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.	mondoexuq1wtf	classic type lipoma|conventional lipoma											DOID:10193|NCIT:C27530|UMLS:C1333059																		owl:Class
MONDO:0014941	biolink:NamedThing	arthrogryposis, distal, with impaired proprioception and touch		mondoexuq1wtf	arthrogryposis, distal, with impaired proprioception and touch; DAIPT|arthrogryposis, distal, with impaired proprioception and touch|DAIPT											OMIM:617146|UMLS:C4310692																		owl:Class
MONDO:0013824	biolink:NamedThing	Joubert syndrome 17	Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.	mondoexuq1wtf	CPLANE1 Joubert syndrome|Joubert syndrome 17|JBTS17|Joubert syndrome type 17|Joubert syndrome caused by mutation in CPLANE1											UMLS:C3553264|OMIM:614615|DOID:0110986																		owl:Class
MONDO:0000379	biolink:NamedThing	malignant Sertoli-Leydig cell tumor	A malignant form of Sertoli-leydig cell tumor.	mondoexuq1wtf	Sertoli-Leydig cell tumor, malignant											DOID:0050618																		owl:Class
MONDO:0002479	biolink:NamedThing	Sertoli-Leydig cell tumor	A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.	mondoexuq1wtf												UMLS:C0206723|MESH:D018310|ONCOTREE:SLCT|DOID:2997|GARD:0009967																		owl:Class
MONDO:0020604	biolink:NamedThing	X-linked dominant disease	X-linked dominant form of disease.	mondoexuq1wtf												DOID:0080009																		owl:Class
MONDO:0020793	biolink:NamedThing	oculopharyngodistal myopathy 1		mondoexuq1wtf	OPDM1|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|oculopharyngodistal myopathy 1|oculopharyngodistal myopathy											OMIM:164310																		owl:Class
MONDO:0002626	biolink:NamedThing	spinal accessory nerve neoplasm	A neoplasm involving a accessory XI nerve spinal component.	mondoexuq1wtf	spinal accessory nerve tumors|accessory nerve neoplasm|tumor of spinal accessory nerve|tumor of eleventh cranial nerve|eleventh cranial nerve neoplasm|XIth cranial nerve neoplasms|neoplasm of the eleventh cranial nerve|spinal accessory nerve neoplasms|tumor of accessory XI nerve spinal component|tumor of the eleventh cranial nerve|accessory XI nerve spinal component neoplasm (disease)|neoplasm of eleventh cranial nerve|eleventh cranial nerve tumor|eleventh cranial nerve neoplasms|eleventh cranial nerve tumors|neoplasm of accessory nerve|neoplasm of the spinal accessory nerve|accessory XI nerve spinal component tumor|spinal accessory nerve tumor|tumor of the spinal accessory nerve|spinal accessory nerve neoplasm|XIth cranial nerve tumors|neoplasm of accessory XI nerve spinal component|neoplasm of spinal accessory nerve|accessory XI nerve spinal component neoplasm											ICD9:239.7|UMLS:C1263902|DOID:337|SCTID:126977003|NCIT:C5829																		owl:Class
MONDO:0003718	biolink:NamedThing	occlusion precerebral artery		mondoexuq1wtf	occlusion and stenosis of multiple and bilateral precerebral arteries|occlusion and stenosis of precerebral artery											ICD9:433.9|ICD9:433.80|ICD10:I65.9|SCTID:28790007|DOID:5976|ICD9:433.3|ICD9:433.81|UMLS:C0265090|ICD9:433																		owl:Class
MONDO:0016562	biolink:NamedThing	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	mondoexuq1wtf	PSP-pure akinesia with gait freezing|PSP-PAGF											Orphanet:240094|UMLS:CN226961|ICD10:G23.1																		owl:Class
MONDO:0000716	biolink:NamedThing	agraphia	An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.	mondoexuq1wtf												ICD10:R48.8|DOID:0060223																		owl:Class
MONDO:0011373	biolink:NamedThing	urinary tract infections, recurrent, susceptibility to		mondoexuq1wtf	urinary tract infections, recurrent, susceptibility to											OMIM:603806																		owl:Class
MONDO:0010809	biolink:NamedThing	familial chronic myelocytic leukemia-like syndrome	A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).	mondoexuq1wtf	familial CML-like syndrome|myelocytic leukemia-like syndrome, familial, chronic|CML-like syndrome, familial											MESH:C536093|OMIM:600080|DOID:0060761|GARD:0010141|UMLS:C1838670														https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic				owl:Class
MONDO:0015559	biolink:NamedThing	lymphoadenopathic mastocytosis with eosinophilia		mondoexuq1wtf												Orphanet:158793|ICD10:C96.2																		owl:Class
MONDO:0020333	biolink:NamedThing	aggressive systemic mastocytosis	Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.	mondoexuq1wtf	aggressive systemic mastocytosis (morphologic abnormality)|lymphadenopathic mastocytosis with eosinophilia|ASM											ONCOTREE:ASM|MedDRA:10056453|ICDO:9741/3|DOID:4798|SCTID:716655008|ICD10:C96.2|NCIT:C9285|UMLS:C1112486|Orphanet:98850																		owl:Class
MONDO:0018323	biolink:NamedThing	HSD10 disease, neonatal type	HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.	mondoexuq1wtf	2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|MHBD deficiency, neonatal type|HSD10 deficiency, neonatal type											ICD10:E72.8|UMLS:CN204975|Orphanet:391457																		owl:Class
MONDO:0012852	biolink:NamedThing	inflammatory bowel disease 20	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.	mondoexuq1wtf	inflammatory bowel disease type 20|inflammatory bowel disease 20|IBD20											OMIM:612288|MESH:C567361|DOID:0110898|UMLS:C2676781																		owl:Class
MONDO:0011263	biolink:NamedThing	skeletal dysplasia and progressive central nervous system degeneration, lethal		mondoexuq1wtf	skeletal dysplasia and progressive central nervous system degeneration, lethal											OMIM:602613|UMLS:C1865117|MESH:C566514																		owl:Class
MONDO:0007565	biolink:NamedThing	familial cylindromatosis		mondoexuq1wtf	turban tumor syndrome|CYLD|Ancell-Spiegler Cylindromas|turban tumors|cylindromatosis, familial|Cylindromas, dermal eccrine|'turban tumor' syndrome|turban tumor|Ancell-Spiegler syndrome											MESH:C536611|Orphanet:211|GARD:0009707|NCIT:C43352|OMIM:132700																		owl:Class
MONDO:0009357	biolink:NamedThing	humeroradial synostosis with craniofacial anomalies		mondoexuq1wtf	humeroradial synostosis with craniofacial anomalies											MESH:C566888|OMIM:236410|UMLS:C1968717																		owl:Class
MONDO:0005530	biolink:NamedThing	opiate dependence	Disorders related or resulting from abuse or mis-use of opioids.	mondoexuq1wtf	narcotism|opioid type dependence|opioid dependence											DOID:2559|ICD10:F11.2|ICD9:304.00|ICD9:304.0|EFO:0005611|MESH:D009293|SCTID:75544000																		owl:Class
MONDO:0011197	biolink:NamedThing	hereditary thermosensitive neuropathy	Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.	mondoexuq1wtf	neuropathy, hereditary thermosensitive											MESH:C566575|UMLS:C1865856|OMIM:602107|ICD10:G60.0|Orphanet:84093|SCTID:715645004																		owl:Class
MONDO:0020788	biolink:NamedThing	hypomagnesemia, seizures, and intellectual disability 2		mondoexuq1wtf	HOMGSMR2|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2											OMIM:618314																		owl:Class
MONDO:0032649	biolink:NamedThing	hypotrichosis 14		mondoexuq1wtf	HYPT14|HYPOTRICHOSIS 14											OMIM:618275|DOID:0080582																		owl:Class
MONDO:0010499	biolink:NamedThing	Ritscher-Schinzel syndrome 2	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.	mondoexuq1wtf	Ritscher-Schinzel syndrome 2|CCDC22 Ritscher-Schinzel syndrome|RTSC2|Ritscher-Schinzel syndrome type 2|Ritscher-Schinzel syndrome caused by mutation in CCDC22											OMIM:300963|UMLS:C4225419|DOID:0060572																		owl:Class
MONDO:0006789	biolink:NamedThing	hyperamylasemia	Abnormally high level of amylase in the blood.	mondoexuq1wtf												MedDRA:10062777|MESH:D034321|EFO:1000969																		owl:Class
MONDO:0022785	biolink:NamedThing	cleft palate cardiac defect ectrodactyly		mondoexuq1wtf												GARD:0001387														https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly				owl:Class
MONDO:0011967	biolink:NamedThing	heterotopia, periventricular, associated with chromosome 5P anomalies		mondoexuq1wtf	heterotopia, periventricular, associated with chromosome 5P anomalies|periventricular nodular heterotopia 3											UMLS:C1842562|OMIM:608098|MESH:C564291																		owl:Class
MONDO:0021538	biolink:NamedThing	verrucous carcinoma of oral cavity	A verrucous carcinoma that involves the oral cavity.	mondoexuq1wtf	verrucous carcinoma of the mouth|oral cavity verrucous carcinoma|oral cavity verrucous cancer|verrucous carcinoma of mouth|mouth verrucous carcinoma|verrucous carcinoma of the oral cavity											UMLS:C0280306|NCIT:C8174|SCTID:403889000																		owl:Class
MONDO:0018259	biolink:NamedThing	didymosis aplasticosebacea		mondoexuq1wtf	aplasia cutis congenita-nevus sebaceus syndrome											ICD10:Q84.8|Orphanet:370046|UMLS:CN204834																		owl:Class
MONDO:0015740	biolink:NamedThing	trisomy 18p	Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.	mondoexuq1wtf	chromosome 18p duplication|trisomy type 18p|trisomy of the short arm of chromosome 18|18p duplication|Duplication 18p|partial trisomy 18p|Duplication of the short arm of chromosome 18|18p trisomy											GARD:0005323|ICD10:Q92.2|Orphanet:1715|MESH:C538307																		owl:Class
MONDO:0020523	biolink:NamedThing	familial parathyroid adenoma	An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	hereditary parathyroid gland adenoma											Orphanet:99877|UMLS:C1840403|ICD10:E21.0																		owl:Class
MONDO:0032612	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 7		mondoexuq1wtf	MC1DN7|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7											OMIM:618229																		owl:Class
MONDO:0016727	biolink:NamedThing	extraventricular neurocytoma	Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.	mondoexuq1wtf	extraventricular neurocytoma (WHO grade II)|EVN											NCIT:C92555|Orphanet:251927|ONCOTREE:EVN|UMLS:C2985175|ICDO:9506/1|SCTID:716787002|UMLS:CN201975																		owl:Class
MONDO:0009707	biolink:NamedThing	myopathy with giant abnormal mitochondria		mondoexuq1wtf	myopathy with giant abnormal mitochondria											UMLS:C1850717|OMIM:255140|MESH:C564971																		owl:Class
MONDO:0005928	biolink:NamedThing	post-thrombotic syndrome	A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.	mondoexuq1wtf	venous stress disorder|postphlebetic syndrome with ulcer and inflammation|postphlebetic syndrome with ulcer|postphlebetic syndrome with inflammation|postphlebitic syndrome											ICD10:I87.0|ICD9:459.12|ICD9:459.11|ICD9:459.13|EFO:0007452|ICD9:459.10|SCTID:20427003|DOID:2364|ICD9:459.1|MESH:D011186																		owl:Class
MONDO:0002982	biolink:NamedThing	peripheral primitive neuroectodermal tumor of soft tissues	A small round cell tumor with neural differentiation arising from the soft tissues.	mondoexuq1wtf	soft tissue peripheral neuroepithelioma|peripheral neuroepithelioma of soft tissues|peripheral primitive neuroectodermal tumor of soft tissues|peripheral neuroectodermal tumor of the soft tissues|peripheral neuroectodermal tumor of soft tissues|peripheral neuroepithelioma of the soft tissues											UMLS:C1112437|DOID:4389|NCIT:C27471																		owl:Class
MONDO:0007212	biolink:NamedThing	brachydactyly-long thumb syndrome	Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.	mondoexuq1wtf	brachydactyly, long thumb type|long-thumb brachydactyly syndrome|brachydactyly long thumb type|brachydactyly, long-thumb type											OMIM:112430|Orphanet:2946|MESH:C566204|ICD10:Q87.2|SCTID:733454004|UMLS:C1862169|GARD:0000968														https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type				owl:Class
MONDO:0011788	biolink:NamedThing	cloverleaf skull-multiple congenital anomalies syndrome	This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	mondoexuq1wtf	multiple congenital anomalies syndrome with cloverleaf skull											ICD10:Q87.8|SCTID:717771007|Orphanet:93267|OMIM:607161|UMLS:C1846671|MESH:C564611																		owl:Class
MONDO:0016939	biolink:NamedThing	partial duplication of the short arm of chromosome 2	Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	Duplication 2p|partial trisomy of chromosome 2p|partial duplication of the short arm of chromosome type 2|2p duplication|trisomy 2p|chromosome 2p duplication|partial duplication of chromosome 2p|partial trisomy 2p|2p trisomy											GARD:0005337|Orphanet:262698|UMLS:C0795803|MESH:C538318																		owl:Class
MONDO:0003535	biolink:NamedThing	fallopian tube papillary adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.	mondoexuq1wtf	papillary adenocarcinoma of fallopian tube|papillary adenocarcinoma of the fallopian tube|fallopian tube papillary adenocarcinoma											DOID:5597|UMLS:C1333595|NCIT:C6267																		owl:Class
MONDO:0033631	biolink:NamedThing	combined oxidative phosphorylation deficiency 51		mondoexuq1wtf	COXPD51											OMIM:619057																		owl:Class
MONDO:0018375	biolink:NamedThing	traumatic avascular necrosis		mondoexuq1wtf	traumatic AVN											ICD10:M87.2|Orphanet:399175																		owl:Class
MONDO:0006730	biolink:NamedThing	drug psychosis	Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.	mondoexuq1wtf	drug-induced psychosis|drug-induced psychotic disorder											SCTID:191483003|EFO:1000902|MedDRA:10045855|DOID:1742|ICD9:292.1|MESH:D011605																		owl:Class
MONDO:0044637	biolink:NamedThing	infantile-onset generalized dyskinesia with orofacial involvement		mondoexuq1wtf	infantile-onset orofacial-trunk-limbs dyskinesia											Orphanet:494526																		owl:Class
MONDO:0009337	biolink:NamedThing	Hennekam lymphangiectasia-lymphedema syndrome 1	Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.	mondoexuq1wtf	HKLLS1|Hennekam lymphangiectasia-lymphedema syndrome|Hennekam syndrome caused by mutation in CCBE1|Hennekam lymphangiectasia-lymphedema syndrome 1|CCBE1 Hennekam syndrome|lymphatic dysplasia, generalized|Hennekam lymphangiectasia-lymphedema syndrome type 1											UMLS:C4012050|OMIM:235510																		owl:Class
MONDO:0010694	biolink:NamedThing	nystagmus, myoclonic		mondoexuq1wtf	nystagmus, myoclonic|myoclonic nystagmus											MESH:C564088|GARD:0009605|OMIM:310800|UMLS:C1839579														https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic				owl:Class
MONDO:0018267	biolink:NamedThing	combined cervical dystonia		mondoexuq1wtf												Orphanet:370114|ICD10:G24.3																		owl:Class
MONDO:0021334	biolink:NamedThing	immunoproliferative disorder	Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.	mondoexuq1wtf	Immunoproliferative disorder|Disorders, Immunoproliferative|Immunoproliferative Disorder|Immunoproliferative disease|immunoproliferative disorder|Disorder, Immunoproliferative|Immunoproliferative Disorders											ICD9:203.80|MESH:D007160|UMLS:C0021070|SCTID:127071007																		owl:Class
MONDO:0013574	biolink:NamedThing	cutis laxa - Marfanoid syndrome		mondoexuq1wtf	cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype											SCTID:254221009|UMLS:C0432335|MESH:C563639|OMIM:614100|Orphanet:171719																		owl:Class
MONDO:0013077	biolink:NamedThing	Santos syndrome		mondoexuq1wtf	Santos syndrome|fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome											UMLS:C2751698|MESH:C567819|OMIM:613005																		owl:Class
MONDO:0000440	biolink:NamedThing	metabolic acidosis		mondoexuq1wtf												SCTID:59455009|DOID:0050758																		owl:Class
MONDO:0013832	biolink:NamedThing	keratoconus 8		mondoexuq1wtf	KTCN8|keratoconus 8											OMIM:614628|UMLS:C3553307																		owl:Class
MONDO:0007443	biolink:NamedThing	congenital unilateral hypoplasia of depressor anguli oris	Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).	mondoexuq1wtf	depressor anguli oris muscle, hypoplasia of|isolated asymmetric crying facies|asymmetric crying facies|Cayler cardiofacial syndrome|facial paresis, partial, unilateral					Editor note: TODO check relationship to 22q11.2 deletion syndrome						Orphanet:1166|SCTID:51409009|OMIM:125520|ICD10:Q87.0|ICD9:759.89																		owl:Class
MONDO:0019521	biolink:NamedThing	centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.	mondoexuq1wtf	RDEB-Ce|centripetal dystrophic epidermolysis bullosa|centripetal recessive dystrophic epidermolysis bullosa|RDEB, centripetalis											UMLS:C4511056|Orphanet:89841|SCTID:725419003|ICD10:Q81.2																		owl:Class
MONDO:0019871	biolink:NamedThing	distal trisomy 2p	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	mondoexuq1wtf	trisomy 2pter|distal trisomy type 2p|telomeric duplication 2p|distal duplication 2p											Orphanet:96070|SCTID:764518004|ICD10:Q92.3																		owl:Class
MONDO:0009475	biolink:NamedThing	isovaleric acidemia	Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.	mondoexuq1wtf	IVD deficiency|isovaleric acid CoA dehydrogenase deficiency|isovaleryl CoA carboxylase deficiency|IVA|isovaleryl-CoA dehydrogenase deficiency|isovaleric acidemia|isovaleric acid Coa dehydrogenase deficiency|isovaleric aciduria|Isovalericacidemia											GARD:0000465|NCIT:C98964|ICD10:E71.1|UMLS:C0268575|Orphanet:33|OMIM:243500|DOID:14753|SCTID:87827003|ICD10:E71.110|MESH:C538167														https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia				owl:Class
MONDO:0012141	biolink:NamedThing	orofacial cleft 6, susceptibility to	Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.	mondoexuq1wtf	cleft lip with or without cleft palate, nonsyndromic, 6|OFC6|orofacial cleft caused by mutation in IRF6|IRF6 orofacial cleft|orofacial cleft 6, susceptibility to|susceptibility to orofacial cleft 6											DOID:0080593|OMIM:608864																		owl:Class
MONDO:0042484	biolink:NamedThing	disseminated sporotrichosis		mondoexuq1wtf	disseminated sporotrichosis											SCTID:91051003|UMLS:C0276725																		owl:Class
MONDO:0010250	biolink:NamedThing	intellectual disability, X-linked 49		mondoexuq1wtf	mental retardation, X-linked 49|mental retardation, X-linked 15|intellectual disability, X-linked 49|MRX49|intellectual disability, X-linked 15											OMIM:300114																		owl:Class
MONDO:0001019	biolink:NamedThing	suppression amblyopia	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.	mondoexuq1wtf	strabismic amblyopia											ICD10:H53.03|SCTID:35600002|UMLS:C0750903|COHD:374649|ICD9:368.01|DOID:10375																		owl:Class
MONDO:0017619	biolink:NamedThing	congenital sucrase-isomaltase deficiency with minimal starch tolerance		mondoexuq1wtf	CSID with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|congenital sucrase-isomaltose malabsorption with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance											ICD10:E74.3|Orphanet:306446																		owl:Class
MONDO:0016505	biolink:NamedThing	aldosterone-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.	mondoexuq1wtf	Pure aldosterone-producing adrenocortical carcinoma|Pure aldosterone-secreting adrenocortical carcinoma|aldosterone producing adrenal cortical adenoma|aldosterone-producing adrenal cortex adenoma|adrenocortical carcinoma with pure aldosterone hypersecretion|Pure APAC|aldosterone producing adrenal cortex adenoma|APAC										MONDO:0006023	ICD10:C74.0|UMLS:C1706762|Orphanet:231625|UMLS:CN226945|MedDRA:10056950|NCIT:C48451|ICD10:E26.0|EFO:1000015																		owl:Class
MONDO:0054835	biolink:NamedThing	parkinsonism-dystonia, infantile, 1		mondoexuq1wtf	PKDYS|dopamine transporter deficiency syndrome|Parkinsonism-dystonia, infantile, 1|PKDYS1											OMIM:613135																		owl:Class
MONDO:0011209	biolink:NamedThing	progeroid facial appearance with hand anomalies		mondoexuq1wtf	progeroid facial appearance with hand anomalies											UMLS:C1865699|OMIM:602249|MESH:C566563																		owl:Class
MONDO:0007322	biolink:NamedThing	chondrodysplasia punctata, tibial-metacarpal type		mondoexuq1wtf	chondrodysplasia punctata, tibia-metacarpal type|chondrodysplasia punctata, Mt type											Orphanet:79346|ICD10:Q77.3|SCTID:254083002|OMIM:118651|MESH:C562961|ICD9:756.59																		owl:Class
MONDO:0022989	biolink:NamedThing	diomedi bernardi placidi syndrome		mondoexuq1wtf												GARD:0001870														https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome				owl:Class
MONDO:0001646	biolink:NamedThing	benign secondary hypertension	Mild to moderate high blood pressure that is caused by an underlying medical condition.	mondoexuq1wtf												ICD9:405.1|DOID:13143|ICD9:405.19|COHD:314958|UMLS:C0155620|SCTID:194785008																		owl:Class
MONDO:0017453	biolink:NamedThing	fetal parvovirus syndrome	Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.	mondoexuq1wtf	Maternofetal infection by parvovirus|Parvovirus antenatal infection|Human parvovirus B19 caused infectious embryofetopathy|Parvovirus B19 antenatal infection|mother-to-child transmission of parvovirus syndrome|fifth disease|Human parvovirus B19 infectious embryofetopathy											Orphanet:295|GARD:0004236|MESH:C536301|ICD10:P35.8|GARD:0002310|SCTID:715197005																		owl:Class
MONDO:0015195	biolink:NamedThing	atresia of urethra	Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.	mondoexuq1wtf	atresia of urethra|urethral atresia|atresia of urethra (disease)		atresia of urethra (disease)									Orphanet:105|MedDRA:10064895|HP:0000068|SCTID:253902002|ICD10:Q64.3																		owl:Class
MONDO:0016170	biolink:NamedThing	chronic polyradiculoneuropathy	Chronic form of polyradiculoneuropathy.	mondoexuq1wtf	polyradiculoneuropathy, chronic											Orphanet:208978|ICD10:G61.8																		owl:Class
MONDO:0012476	biolink:NamedThing	hereditary spastic paraplegia 30	Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	mondoexuq1wtf	hereditary spastic paraplegia type 30|autosomal spastic paraplegia type 30|autosomal recessive spastic paraplegia 30|KIF1A hereditary spastic paraplegia|spastic paraplegia 30, autosomal recessive|SPG30|hereditary spastic paraplegia caused by mutation in KIF1A											UMLS:C1835896|DOID:0110781|SCTID:763377006|ICD10:G11.4|Orphanet:101010|MESH:C563677|OMIM:610357																		owl:Class
MONDO:0019533	biolink:NamedThing	paroxysmal cold hemoglobinuria	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.	mondoexuq1wtf	PCH|hemoglobinuria paroxysmal cold|Donath-Landsteiner syndrome|Donath-Landsteiner hemolytic anemia											ICD10:D59.6|Orphanet:90035|SCTID:127057004|GARD:0007335																		owl:Class
MONDO:0010165	biolink:NamedThing	ulna hypoplasia-intellectual disability syndrome	Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	mondoexuq1wtf	mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|ulna hypoplasia with intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|bilateral ulnar hypoplasia and intellectual disability|bilateral ulnar hypoplasia and mental retardation|ulna hypoplasia with mental retardation|ulnar hypoplasia with mental retardation|ulnar hypoplasia with intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation											UMLS:C2931370|UMLS:C1848650|ICD10:Q87.2|Orphanet:2249|GARD:0005398|MESH:C564757|OMIM:276821																		owl:Class
MONDO:0007849	biolink:NamedThing	keratitis fugax hereditaria		mondoexuq1wtf	KEFH|keratitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria|Keratoendotheliitis fugax hereditaria											MESH:C563650|OMIM:148200|UMLS:C1835697																		owl:Class
MONDO:0009679	biolink:NamedThing	arthrogryposis due to muscular dystrophy		mondoexuq1wtf	congenital muscular dystrophy producing arthrogryposis|muscular dystrophy, congenital, producing arthrogryposis											MESH:C564985|UMLS:C1850865|OMIM:253900|GARD:0000779|ICD10:M62.8|Orphanet:1155|DOID:0110631														https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy				owl:Class
MONDO:0054560	biolink:NamedThing	anauxetic dysplasia 1		mondoexuq1wtf	spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia|ANXD1|spondyloepimetaphyseal dysplasia, anauxetic type|anauxetic dysplasia 1											OMIM:607095																		owl:Class
MONDO:0020557	biolink:NamedThing	pleuropulmonary blastoma type 3	A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.	mondoexuq1wtf	type III pleuropulmonary blastoma											ICD9:162.9|Orphanet:99935|ICD10:C34.3|UMLS:CN207459|ICD10:C34.9|ICD10:C34.2|ICD10:C34.1|SCTID:707673006|NCIT:C45628|ICD10:C34.8																		owl:Class
MONDO:0017473	biolink:NamedThing	patella aplasia/hypoplasia, bilateral		mondoexuq1wtf												ICD10:Q74.1|Orphanet:295041																		owl:Class
MONDO:0008205	biolink:NamedThing	patella aplasia/hypoplasia	Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.	mondoexuq1wtf	absent patella|familial absence of the patella|patella aplasia-hypoplasia|PTLAH|familial aplasia of the patella (subtype)											MESH:C535568|Orphanet:86789|GARD:0008709|OMIM:168860|ICD10:Q74.1																		owl:Class
MONDO:0006133	biolink:NamedThing	cervical adenoid cystic carcinoma	A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.	mondoexuq1wtf	adenoid cystic carcinoma of cervix uteri|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of the cervix uteri|adenoid cystic carcinoma of the cervix|adenoid cystic carcinoma of uterine cervix|adenoid cystic carcinoma of the uterine cervix|adenoid cystic carcinoma of cervix|cervix uteri adenoid cystic carcinoma|cervical adenoid cystic carcinoma|cervical adenoid cystic cancer|uterine cervix adenoid cystic carcinoma											NCIT:C6346|UMLS:C1332911|EFO:1000161|DOID:4867|ONCOTREE:CACC																		owl:Class
MONDO:0012258	biolink:NamedThing	epidermolysis bullosa simplex with circinate migratory erythema	Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	mondoexuq1wtf	EBS-migr|epidermolysis bullosa simplex with migratory circinate erythema											SCTID:716700003|OMIM:609352|MESH:C563730|UMLS:C1836284|ICD10:Q81.0|Orphanet:158681																		owl:Class
MONDO:0020854	biolink:NamedThing	Liddle syndrome 2	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.	mondoexuq1wtf	Liddle syndrome caused by mutation in SCNN1G|LIDLS2|Liddle syndrome 2|SCNN1G Liddle syndrome											OMIM:618114																		owl:Class
MONDO:0045068	biolink:NamedThing	minor salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.	mondoexuq1wtf	adenoid cystic carcinoma of minor salivary gland|adenoid cystic carcinoma of the minor salivary gland|minor salivary gland adenoid cystic carcinoma											UMLS:C1334769|NCIT:C5936																		owl:Class
MONDO:0015493	biolink:NamedThing	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy		mondoexuq1wtf												Orphanet:156156																		owl:Class
MONDO:0037742	biolink:NamedThing	endometrioid stromal and related neoplasms	A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.	mondoexuq1wtf	endometrioid stromal and related tumors|endometrioid stromal and related neoplasms											UMLS:C4287868|NCIT:C8384																		owl:Class
MONDO:0004946	biolink:NamedThing	hypoglycemia	Abnormally low level of glucose in the blood.	mondoexuq1wtf	glucose, Low blood|low blood glucose|blood glucose, Low|hypoglycaemia											MESH:D007003|UMLS:C0020615|ICD9:251.1|ICD9:251.2|ICD10:E16.2|NCIT:C3126|COHD:24609|SCTID:302866003|DOID:9993																		owl:Class
MONDO:0010710	biolink:NamedThing	Pierre Robin syndrome-faciodigital anomaly syndrome	This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.	mondoexuq1wtf	Pierre Robin sequence-faciodigital anomaly syndrome|Chitayat Meunier Hodgkinson syndrome|Robin sequence with facial and digital anomalies|Pierre Robin syndrome, faciodigital anomaly|Chitayat-Meunier-Hodgkinson syndrome|Pierre Robin sequence with facial and digital anomalies											SCTID:723461007|Orphanet:2888|OMIM:311895|GARD:0001274|ICD10:Q87.8|MESH:C535926|UMLS:C2931064														https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome				owl:Class
MONDO:0010048	biolink:NamedThing	spastic paraplegia with myoclonic epilepsy		mondoexuq1wtf	spastic paraplegia with myoclonic epilepsy											UMLS:C1849114|OMIM:270805|MESH:C564810																		owl:Class
MONDO:0008400	biolink:NamedThing	salivary duct calculi	Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.	mondoexuq1wtf	parotid duct calculi|salivary duct calculi|submandibular duct calculi											MESH:D012465|OMIM:181010																		owl:Class
MONDO:0007554	biolink:NamedThing	generalized epidermolysis bullosa simplex, non-Dowling-Meara type	Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.	mondoexuq1wtf	epidermolysis bullosa simplex, Köbner type|generalized EBS, non-Dowling-Meara type|epidermolysis bullosa simplex, generalized|EBS, generalized|EBS-K|epidermolysis bullosa simplex, Kobner type|epidermolysis bullosa simplex, generalized intermediate|EBS, generalized intermediate|generalized EBS|epidermolysis bullosa simplex, generalized non-Dowling-Meara|epidermolysis bullosa simplex, Koebner type											ICD9:757.39|Orphanet:79399|OMIM:131900|ICD10:Q81.0|GARD:0002147|SCTID:90496008																		owl:Class
MONDO:0014353	biolink:NamedThing	PGM3-CDG		mondoexuq1wtf	phosphoglucomutase 3 deficiency|combined immunodeficiency due to PGM3 deficiency|phosphoglucomutase deficiency type 3|Cid due to PGM3 deficiency|IMD23|immunodeficiency 23|immunodeficiency with hyper IgE and cognitive impairment|PGM3-related congenital disorder of glycosylation|immunodeficiency type 23|immunodeficiency-vasculitis-myoclonus syndrome											Orphanet:443811|ICD10:E77.8|OMIM:615816|UMLS:C4014371|GARD:0004331																		owl:Class
MONDO:0023368	biolink:NamedThing	Ho-Kaufman-McAlister syndrome	Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet	mondoexuq1wtf	cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome											MESH:C538325|UMLS:C2931819|GARD:0001266														https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome				owl:Class
MONDO:0022453	biolink:NamedThing	angiomyomatous hamartoma	An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.	mondoexuq1wtf												UMLS:C2959445|GARD:0008313														https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma				owl:Class
MONDO:0020748	biolink:NamedThing	sitosterolemia 2		mondoexuq1wtf	STSL2											OMIM:618666																		owl:Class
MONDO:0100291	biolink:NamedThing	early T cell progenitor acute lymphoblastic leukemia	T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.	mondoexuq1wtf	ETP-ALL|ETP ALL|early T-cell precursor lymphoblastic leukemia|early T-cell precursor acute lymphoblastic leukemia|early T acute lymphoblastic leukemia							http://orcid.org/0000-0001-5208-3432				UMLS:C4329780|NCIT:C130043														https://github.com/monarch-initiative/mondo/issues/2763				owl:Class
MONDO:0014454	biolink:NamedThing	Hennekam lymphangiectasia-lymphedema syndrome 2	Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.	mondoexuq1wtf	HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome type 2|Hennekam lymphangiectasia-lymphedema syndrome 2|FAT4 Hennekam syndrome|Hennekam syndrome caused by mutation in FAT4											UMLS:C4014939|OMIM:616006																		owl:Class
MONDO:0006199	biolink:NamedThing	endometrial undifferentiated carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.	mondoexuq1wtf	endometrial undifferentiated carcinoma|undifferentiated endometrial carcinoma											EFO:1000242|UMLS:CN201056|NCIT:C40156																		owl:Class
MONDO:0011660	biolink:NamedThing	autosomal dominant nonsyndromic deafness 22	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	mondoexuq1wtf	MYO6 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|deafness, autosomal dominant nonsyndromic sensorineural 22|DFNA 22|autosomal dominant nonsyndromic deafness type 22|DFNA22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|autosomal dominant deafness 22|deafness, autosomal dominant type 22											MESH:C538197|OMIM:606346|DOID:0110552|ICD10:H90.3|GARD:0009167																		owl:Class
MONDO:0004770	biolink:NamedThing	exophthalmos	The anterior displacement of the eye within the orbit, giving a bulging appearance.	mondoexuq1wtf	proptosis|exophthalmos|exophthalmos (disease)		exophthalmos (disease)									ICD9:376.30|HP:0000520|ICD10:H05.20|SCTID:18265008|NCIT:C118763|UMLS:C0015300|COHD:436700|MESH:D005094|DOID:9370																		owl:Class
MONDO:0009961	biolink:NamedThing	renal and mullerian duct hypoplasia		mondoexuq1wtf	renal and mullerian duct hypoplasia											UMLS:C1849439|OMIM:266810|MESH:C564853																		owl:Class
MONDO:0013054	biolink:NamedThing	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance		mondoexuq1wtf	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance											OMIM:612947|MESH:C567849|UMLS:C2751870																		owl:Class
MONDO:0025478	biolink:NamedThing	venereal tumors, veterinary	Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.	mondoexuq1wtf	tumors, veterinary venereal|transmissible venereal tumor|veterinary venereal tumor|venereal tumor, transmissible|venereal tumor, veterinary|tumors, transmissible venereal|tumor, transmissible venereal|tumor, veterinary venereal|transmissible venereal tumors|venereal tumors, transmissible|veterinary venereal tumors											MESH:D014685|UMLS:C0042465																		owl:Class
MONDO:0054708	biolink:NamedThing	retinitis pigmentosa 80		mondoexuq1wtf	RP80|RETINITIS pigmentosa 80											OMIM:617781																		owl:Class
MONDO:0008967	biolink:NamedThing	congenital bile acid synthesis defect 4	An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.	mondoexuq1wtf	AMACR deficiency|CBAS4|congenital bile acid synthesis defect 4|Trihydroxycoprostanic acid to cholic acid|BAS defect type 4|Alpha-methyl-acyl-CoA racemase deficiency|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|trihydroxycoprostanic acid in bile|bile acid synthesis defect, congenital, 4|Trihydroxycoprostanic acid in bile|congenital bile acid synthesis defect type 4|2-methylacyl-CoA racemase deficiency|bile acid synthesis defect, congenital, type 4|cholestasis, intrahepatic, with defective conversion of|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|BASD4											Orphanet:79095|MESH:C535444|DOID:0111068|OMIM:214950|ICD10:K76.8|GARD:0010046														https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4|https://github.com/monarch-initiative/mondo/issues/1196				owl:Class
MONDO:0019940	biolink:NamedThing	hypertrichosis-acromegaloid facial appearance syndrome	Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.	mondoexuq1wtf	hypertrichosis-acromegaloid facial features syndrome|acromegaloid hypertrichosis syndrome|hypertrichosis-coarse face syndrome|haff|acromegaloid facial appearance syndrome and hypertrichosis											Orphanet:966|UMLS:CN226272|GARD:0000502|ICD10:Q87.0|SCTID:721837000														https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome				owl:Class
MONDO:0002949	biolink:NamedThing	morpheaform basal cell carcinoma	A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.	mondoexuq1wtf	cicatricial basal-cell carcinoma|morpheaform basal cell carcinoma|sclerosing type basal cell carcinoma|morphea-type (sclerosing) basal cell carcinoma|morphea-type basal cell carcinoma|basal cell carcinoma sclerosing type|basal cell carcinoma, morphea|skin morphea-type (sclerosing) basal cell carcinoma											DOID:4292|UMLS:C0555191|NCIT:C27182|SCTID:403913006																		owl:Class
MONDO:0008072	biolink:NamedThing	IgA nephropathy, susceptibility to, 1		mondoexuq1wtf	berger disease|IgA nephropathy, susceptibility to, 1|Igan|IGAN1|nephritis, IgA type|glomerulonephritis, IgA											GARD:0000863|OMIM:161950																		owl:Class
MONDO:0015289	biolink:NamedThing	infectious epithelial keratitis	Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	mondoexuq1wtf												Orphanet:137593																		owl:Class
MONDO:0012054	biolink:NamedThing	schizophrenia 12	A schizophrenia that has material basis in a mutation on chromosome 1p36.2.	mondoexuq1wtf	schizophrenia 12|Sczd12|schizophrenia susceptibility locus, chromosome 1P-related|schizophrenia type 12|SCZD12											DOID:0070088|OMIM:608543|UMLS:C1837893																		owl:Class
MONDO:0020435	biolink:NamedThing	atrial septal defect, coronary sinus type		mondoexuq1wtf	ASD, coronary sinus type|unroofed coronary sinus|atrial septal defect coronary sinus|coronary sinus atrial septal defects|ASD coronary sinus											ICD9:746.89|Orphanet:99104|SCTID:40272001|ICD10:Q21.1|GARD:0010697														https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus				owl:Class
MONDO:0006488	biolink:NamedThing	vaginal carcinosarcoma	An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.	mondoexuq1wtf	vaginal malignant mixed mesodermal (Mullerian) tumor|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal mixed epithelial and mesenchymal tumor|vaginal carcinosarcoma|vaginal malignant mixed mesodermal (Müllerian) tumor|vaginal malignant mixed Mullerian tumor											EFO:1000618|UMLS:C1519918|NCIT:C40278|DOID:136																		owl:Class
MONDO:0008485	biolink:NamedThing	sebocystomatosis	Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.	mondoexuq1wtf	STEATOCYSTOMA multiplex|multiplex steatocystoma|Steatocystoma multiplex|multiple sebaceous cysts|sebaceous cysts, multiple											UMLS:C0259771|UMLS:C3671377|OMIM:184500|SCTID:109433009|ICD10:L72.2|GARD:0005003|Orphanet:841|DOID:0111556																		owl:Class
MONDO:0003984	biolink:NamedThing	internal auditory canal lipoma	A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.	mondoexuq1wtf	internal acoustic meatus lipoma|inner Ear lipoma|internal Ear lipoma|lipoma of internal acoustic meatus|lipoma of the internal auditory canal|lipoma of internal auditory canal											UMLS:C1334226|NCIT:C5452|DOID:6752																		owl:Class
MONDO:0017237	biolink:NamedThing	hereditary sensorimotor neuropathy with hyperelastic skin		mondoexuq1wtf												UMLS:CN202738|ICD10:G60.0|Orphanet:280598|GARD:0011010														https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin				owl:Class
MONDO:0024524	biolink:NamedThing	dyschromatosis universalis hereditaria 1		mondoexuq1wtf	dyschromatosis universalis hereditaria 1|DUH1											MESH:C567273|UMLS:C2675711|OMIM:127500																		owl:Class
MONDO:0009542	biolink:NamedThing	lysine malabsorption syndrome		mondoexuq1wtf	lysine malabsorption syndrome											OMIM:247950|UMLS:C0796023|MESH:C563080																		owl:Class
MONDO:0009494	biolink:NamedThing	Ketoadipicaciduria		mondoexuq1wtf	Ketoadipicaciduria											UMLS:C1855626|OMIM:245130|MESH:C565453																		owl:Class
MONDO:0018252	biolink:NamedThing	focal palmoplantar keratoderma with joint keratoses		mondoexuq1wtf												Orphanet:370002|UMLS:CN204827|ICD10:Q82.8																		owl:Class
MONDO:0017620	biolink:NamedThing	congenital sucrase-isomaltase deficiency without starch intolerance		mondoexuq1wtf	congenital sucrose intolerance without starch intolerance|CSID without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance											Orphanet:306462|ICD10:E74.3																		owl:Class
MONDO:0008115	biolink:NamedThing	Feingold syndrome type 1	Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.	mondoexuq1wtf	microcephaly-digital anomalies-normal intelligence syndrome type 1|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|oculodigitoesophagoduodenal syndrome|Feingold syndrome 1|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|FGLDS1|ODED syndrome type 1|Feingold syndrome type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|Mmt syndrome|Feingold syndrome|Oded syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|Feingold syndrome caused by mutation in MYCN|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly and digital abnormalities with normal intelligence|FS1|Brunner-Winter syndrome type 1|oculo-digito-esophageal-duodenal syndrome type 1|MODED syndrome type 1|MYCN Feingold syndrome|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|MMT type 1											ICD10:Q87.8|UMLS:CN204984|OMIM:164280|ICD9:759.89|Orphanet:391641|SCTID:702431004																		owl:Class
MONDO:0012636	biolink:NamedThing	restless legs syndrome, susceptibility to, 6		mondoexuq1wtf	RLS6|restless legs syndrome, susceptibility to, 6|periodic limb movements in sleep											OMIM:611185|GARD:0010273																		owl:Class
MONDO:0007666	biolink:NamedThing	glaucoma-sleep apnea syndrome	Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).	mondoexuq1wtf	glaucoma sleep apnea|glaucoma and sleep apnea											UMLS:C1842025|OMIM:137763|MESH:C564232|Orphanet:2085|GARD:0002483														https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea				owl:Class
MONDO:0030837	biolink:NamedThing	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities		mondoexuq1wtf	NEDMILEG											OMIM:619092																		owl:Class
MONDO:0020525	biolink:NamedThing	transient neonatal diabetes mellitus	Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.	mondoexuq1wtf	transient neonatal diabetes mellitus (disease)|diabetes mellitus, 6q24-related transient neonatal|transient neonatal diabetes mellitus|diabetes mellitus, transient neonatal|chromosome 6-associated transient diabetes mellitus|TNDM		transient neonatal diabetes mellitus (disease)									SCTID:237603002|HP:0008255|Orphanet:99886|GARD:0001839|NCIT:C114899|ICD10:P70.2|DOID:0060334																		owl:Class
MONDO:0009642	biolink:NamedThing	orofaciodigital syndrome type II	Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.	mondoexuq1wtf	oral-facial-digital syndrome type 2|orofaciodigital syndrome type 2|orofaciodigital syndrome II|Ofds 2|oral facial digital syndrome 2|orofaciodigital syndrome 2|MOHR syndrome|Mohr syndrome|oral facial digital syndrome type 2|oral-Facial-digital syndrome, type 2|OFD2|OFD syndrome 2											Orphanet:2751|GARD:0003701|ICD9:759.89|SCTID:1779005|OMIM:252100|ICD10:Q87.0																		owl:Class
MONDO:0004752	biolink:NamedThing	neurofibroma of the heart	A rare neurofibroma that affects the heart.	mondoexuq1wtf	heart neurofibroma|neurofibroma of heart|neurofibroma of the heart|Cardiac neurofibroma											DOID:9300|NCIT:C5359|UMLS:C1096349																		owl:Class
MONDO:0011636	biolink:NamedThing	Diamond-Blackfan anemia 2		mondoexuq1wtf	DBA2|anemia Diamond-Blackfan 2|Diamond-Blackfan anemia 2|Diamond-Blackfan Anemia, 2											OMIM:606129|UMLS:C1853666|MESH:C536130|GARD:0008283														https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2				owl:Class
MONDO:0012008	biolink:NamedThing	Lelis syndrome	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	mondoexuq1wtf	ectodermal dysplasia-acanthosis nigricans syndrome|ectodermal dysplasia, hypohidrotic, with acanthosis nigricans|Lelis syndrome											MESH:C564261|OMIM:608290|GARD:0010367|SCTID:719429003|UMLS:C1842307|Orphanet:140936														https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome				owl:Class
MONDO:0008959	biolink:NamedThing	CHAND syndrome		mondoexuq1wtf	CHANDS|CHAND syndrome|curly hair-ankyloblepharon-nail dysplasia syndrome											UMLS:CN199447|OMIM:214350|Orphanet:1401|UMLS:C0406733|MESH:C538074|SCTID:239037001																		owl:Class
MONDO:0006115	biolink:NamedThing	blast phase chronic myelogenous leukemia, BCR-ABL1 positive	An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).	mondoexuq1wtf	crisis, blast|blast phase CML|blastic phase chronic myelogenous leukemia|blast phase chronic myelogenous leukemia|blastic phase chronic granulocytic leukemia|phases, blast|blast phase chronic myeloid leukemia|blast crisis|blast phase|blastic phase CML|phase, blast|blastic phase chronic myeloid leukemia|blastic phase chronic myelocytic leukemia|blast phases|blast phase chronic granulocytic leukemia|crises, blast|blast crises|blast phase chronic myelocytic leukemia											SCTID:413656006|NCIT:C9110|EFO:1000131|MESH:D001752|UMLS:C0005699																		owl:Class
MONDO:0003171	biolink:NamedThing	pineal gland astrocytoma	A astrocytoma that involves the pineal body.	mondoexuq1wtf	astrocytoma (excluding glioblastoma) of pineal body|astrocytoma of pineal gland|pineal body astrocytoma (excluding glioblastoma)|pineal astrocytoma|pineal body astrocytoma|astrocytoma of the pineal gland|pineal astrocytic tumor											DOID:4858|NCIT:C8274|UMLS:C0280795																		owl:Class
MONDO:0054846	biolink:NamedThing	epilepsy, familial adult myoclonic, 6		mondoexuq1wtf	FAME6|benign Adult Familial myoclonic epilepsy 6|cortical myoclonic tremor with epilepsy, Familial, 6|epilepsy, FAMILIAL ADULT myoclonic, 6											DOID:0111696|OMIM:618074|UMLS:CN252655																		owl:Class
MONDO:0007512	biolink:NamedThing	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet		mondoexuq1wtf	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet											OMIM:129540|UMLS:C1851851|MESH:C565067																		owl:Class
MONDO:0010538	biolink:NamedThing	Mononen-Karnes-Senac syndrome	Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	mondoexuq1wtf	brachydactyly Mononen type|short and abducted thumbs and great toes|Mononen type brachydactyly|skeletal dysplasia brachydactyly|Mononen Karnes Senac syndrome|thumbs and great toes short and abducted|thumbs and great toes, short and abducted|brachydactyly, Mononen type|skeletal dysplasia-brachydactyly syndrome											ICD10:Q87.5|UMLS:C2931060|Orphanet:2565|SCTID:733095006|MESH:C535914|GARD:0004886|DOID:0110973|OMIM:301940														https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type				owl:Class
MONDO:0016360	biolink:NamedThing	marcothrombocytopenia with mitral valve insufficiency	Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	mondoexuq1wtf												Orphanet:220448|ICD10:D69.4																		owl:Class
MONDO:0009672	biolink:NamedThing	spinal muscular atrophy, type III	Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	mondoexuq1wtf	spinal muscular atrophy, mild childhood and adolescent form|juvenile spinal muscular atrophy|SMA-III|spinal muscular atrophy, familial|proximal spinal muscular atrophy type 3|Kugelberg-Welander disease|SMA 3|spinal muscular atrophy III|KWS|SMA3|SMA type III|Sma 3|SMA type 3|muscular atrophy, juvenile|spinal muscular atrophy, type 3|pediatric spinal muscular atrophy|spinal muscular atrophy, type III|childhood spinal muscular atrophy|type III spinal muscular atrophy|spinal muscular atrophy type 3|Kugelberg-Welander syndrome|spinal muscular atrophy of childhood											OMIM:253400|UMLS:C0152109|COHD:374634|GARD:0000198|DOID:12376|SCTID:54280009|NCIT:C118847|Orphanet:83419|ICD10:G12.1|ICD9:335.11|UMLS:C0700595																		owl:Class
MONDO:0021311	biolink:NamedThing	malignant tumor of parathyroid gland	A cancer that involves the parathyroid gland.	mondoexuq1wtf	malignant tumor of parathyroid|cancer of parathyroid gland|malignant tumor of the parathyroid gland|malignant parathyroid neoplasm|parathyroid gland cancer|malignant parathyroid gland tumor|malignant neoplasm of the parathyroid gland|malignant tumor of the parathyroid|malignant neoplasm of parathyroid|malignant parathyroid tumor|malignant neoplasm of parathyroid gland|parathyroid cancer|malignant parathyroid gland neoplasm|malignant neoplasm of the parathyroid											SCTID:363481002|ONCOTREE:PTH|NCIT:C9322|ICD9:194.1																		owl:Class
MONDO:0016161	biolink:NamedThing	cerebral gigantism-jaw cysts syndrome	Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.	mondoexuq1wtf	Cramer Niederdellmann syndrome|Cramer-Niederdellmann syndrome|cerebral gigantism jaw cysts											Orphanet:2081|UMLS:CN200907|SCTID:725418006|ICD10:Q04.8|GARD:0001206														https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts				owl:Class
MONDO:0011658	biolink:NamedThing	autosomal recessive early-onset Parkinson disease 7	Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.	mondoexuq1wtf	autosomal recessive early-onset Parkinson disease type 7|PARK7|Parkinson disease 7, autosomal recessive early-onset|autosomal recessive early-onset Parkinson's disease 7|PARK7 Parkinson disease|Parkinson disease caused by mutation in PARK7											OMIM:606324|DOID:0060370|MESH:C565238|UMLS:C1853445																		owl:Class
MONDO:0013841	biolink:NamedThing	stuttering, familial persistent, 3		mondoexuq1wtf	STUT3|stuttering, familial persistent, 3											UMLS:C3553381|OMIM:614655																		owl:Class
MONDO:0001100	biolink:NamedThing	hypertrophy of breast	Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.	mondoexuq1wtf	breast Hypertrophy|pregnancy-induced gigantomastia (subtype)|idiopathic gigantomastia (subtype)|drug-induced gigantomastia (subtype)|puberty-induced gigantomastia (subtype)|juvenile gigantomastia (subtype)|large breast|gestational gigantomastia (subtype)|medication-induced gigantomastia (subtype)|breasts enlarged|hypertrophy of the breast|gigantomastia|macromastia											SCTID:372281005|GARD:0009450|COHD:78474|ICD9:611.1|DOID:10688|ICD10:N62|NCIT:C3125																		owl:Class
MONDO:0015009	biolink:NamedThing	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to		mondoexuq1wtf	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to											OMIM:617300																		owl:Class
MONDO:0003017	biolink:NamedThing	malignant peritoneal solitary fibrous tumor	A malignant form of peritoneal solitary fibrous tumor.	mondoexuq1wtf	pleural and peritoneal solitary fibrous tumor|peritoneal solitary fibrous tumor, malignant											DOID:4490																		owl:Class
MONDO:0037737	biolink:NamedThing	peritoneal solitary fibrous tumor	A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.	mondoexuq1wtf	peritoneal solitary fibrous tumor											NCIT:C126357|UMLS:C4288403																		owl:Class
MONDO:0008078	biolink:NamedThing	neurofibromatosis, familial spinal		mondoexuq1wtf	Fsnf|neurofibromatosis, familial spinal											MESH:C563523|OMIM:162210|UMLS:C1834235																		owl:Class
MONDO:0020855	biolink:NamedThing	spermatogenic failure 32		mondoexuq1wtf	SPGF32|spermatogenic failure 32											OMIM:618115																		owl:Class
MONDO:0004888	biolink:NamedThing	partial circumpapillary choroid dystrophy		mondoexuq1wtf												ICD9:363.51|SCTID:193466003|UMLS:C0154895|DOID:9811																		owl:Class
MONDO:0044787	biolink:NamedThing	nasal cavity and paranasal sinus squamous cell carcinoma	A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.	mondoexuq1wtf	nasal cavity and paranasal sinus squamous cell cancer|nasal cavity and paranasal sinus squamous cell carcinoma					Editor note: TODO add uberon term						UMLS:C0280332|NCIT:C68611																		owl:Class
MONDO:0001157	biolink:NamedThing	dependent personality disorder	A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.	mondoexuq1wtf												ICD9:301.6|ICD10:F60.7|MESH:D003859|COHD:437523|NCIT:C92637|SCTID:84466009|DOID:10931																		owl:Class
MONDO:0023208	biolink:NamedThing	Fuqua Berkovitz syndrome		mondoexuq1wtf												GARD:0002415														https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome				owl:Class
MONDO:0008661	biolink:NamedThing	vitiligo	Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.	mondoexuq1wtf	vitiligo-associated multiple autoimmune disease susceptibility 6|VAMAS6											NCIT:C26915|ICD9:709.01|COHD:138502|EFO:0004208|ICD10:L80|MESH:D014820|UMLS:C0042900|OMIM:193200|DOID:12306																		owl:Class
MONDO:0060585	biolink:NamedThing	neuronopathy, distal hereditary motor, type 9		mondoexuq1wtf	neuronopathy, distal hereditary motor, type IX|neuropathy, distal hereditary motor, type 9|HMN9											OMIM:617721|DOID:0111212|UMLS:C4540265																		owl:Class
MONDO:0023679	biolink:NamedThing	hematohidrosis	Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.	mondoexuq1wtf	Hematidrosis|Hematohidrosis											SCTID:238757003|UMLS:C0473554|ICD9:705.89|GARD:0013131|ICD10:L74.8																		owl:Class
MONDO:0005555	biolink:NamedThing	cycloplegia	Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.	mondoexuq1wtf	paresis of accommodation|loss of accommodation|ciliary muscle paresis|visual accommodation paralysis|accommodative paresis|cycloplegic paralysis of accommodation|paralysis of accommodation|cycloplegia											DOID:10033|EFO:0005758|SCTID_2010_1_31:255335004|SCTID_2010_1_31:232141000|SCTID_2010_1_31:68158006|UMLS:C0235238|ICD9:367.51|ICD10:H52.52|SCTID:68158006|Wikipedia:Cycloplegia																		owl:Class
MONDO:0007106	biolink:NamedThing	anal sphincter dysplasia		mondoexuq1wtf	ASDP|anal sphincter dysplasia											GARD:0009822|OMIM:105563|MESH:C538254|UMLS:C1862936														https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia				owl:Class
MONDO:0022897	biolink:NamedThing	craniosynostosis exostoses nevus epibulbar dermoid		mondoexuq1wtf												GARD:0001593														https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid				owl:Class
MONDO:0008382	biolink:NamedThing	retinoschisis, autosomal dominant	Autosomal dominant form of retinoschisis.	mondoexuq1wtf	autosomal dominant retinoschisis|retinoschisis autosomal dominant|retinoschisis, autosomal dominant											GARD:0009144|MESH:C000598640|OMIM:180270|UMLS:C1867235														https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant				owl:Class
MONDO:0012387	biolink:NamedThing	osteosclerosis-ichthyosis-premature ovarian failure syndrome	This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.	mondoexuq1wtf	osteosclerosis with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|osteosclerosis with ichthyosis and POF|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure											OMIM:609993|GARD:0009904|Orphanet:75325|MESH:C536064|SCTID:722114007																		owl:Class
MONDO:0014822	biolink:NamedThing	15q14 microdeletion syndrome	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	mondoexuq1wtf	Del(15)(q14)|monosomy 15q14|chromosome 15q14 deletion syndrome											ICD10:Q93.5|UMLS:C4225666|OMIM:616898|UMLS:C4305230|Orphanet:261190|SCTID:719575008																		owl:Class
MONDO:0019993	biolink:NamedThing	congenital renal artery stenosis	A narrowing of renal arteries that is present since birth.	mondoexuq1wtf	congenital RAS|congenital renovascular hypoplasia											SCTID:271432005|Orphanet:97598|ICD10:Q27.1														https://github.com/monarch-initiative/mondo/issues/1741				owl:Class
MONDO:0001984	biolink:NamedThing	candidal paronychia	A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.	mondoexuq1wtf	candidiasis of skin and nails|candidiasis of skin											ICD9:112.3|COHD:133414|DOID:14512|ICD10:B37.2|UMLS:C0006842|UMLS:C1282977|SCTID:187014000																		owl:Class
MONDO:0007310	biolink:NamedThing	Charcot-Marie-Tooth disease, Guadalajara neuronal type		mondoexuq1wtf	Charcot-Marie-Tooth disease, Guadalajara neuronal type					Editor note: consider relationship to type 2						OMIM:118230|MESH:C566137|UMLS:C1861673																		owl:Class
MONDO:0007175	biolink:NamedThing	PR interval, variation 1N		mondoexuq1wtf	PR interval, variation IN|Atrioventricular conduction time, variation 1N|PR interval, variation type 1N											OMIM:108980|UMLS:C3152251																		owl:Class
MONDO:0022610	biolink:NamedThing	bronchiectasis oligospermia		mondoexuq1wtf												GARD:0001023														https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia				owl:Class
MONDO:0003195	biolink:NamedThing	peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.	mondoexuq1wtf	peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma											DOID:4901																		owl:Class
MONDO:0013931	biolink:NamedThing	peroxisome biogenesis disorder 4B		mondoexuq1wtf	peroxisome biogenesis disorder 4B|PBD4B|peroxisome biogenesis disorder type 4B|non-classic peroxisome biogenesis disorder											NCIT:C155755|OMIM:614863|UMLS:C3553937														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0005624	biolink:NamedThing	atrophic thyroiditis	Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.	mondoexuq1wtf						It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient						SCTID:83664006|EFO:0006813|UMLS:C0238183																		owl:Class
MONDO:0032614	biolink:NamedThing	epidermodysplasia verruciformis, susceptibility to, 2		mondoexuq1wtf	EV2|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2											OMIM:618231																		owl:Class
MONDO:0043083	biolink:NamedThing	coronal synostosis, syndactyly and jejunal atresia		mondoexuq1wtf	asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia											UMLS:C2931194|MESH:C536445|GARD:0001532																		owl:Class
MONDO:0020354	biolink:NamedThing	coloboma of choroid and retina	Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.	mondoexuq1wtf	retinochoroidal coloboma|choroidal coloboma|retinal coloboma											SCTID:39302008|ICD10:Q14.8|Orphanet:98942|GARD:0001432																		owl:Class
MONDO:0012575	biolink:NamedThing	branchiootorenal syndrome 2	Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.	mondoexuq1wtf	branchio-oto-renal syndrome caused by mutation in SIX5|BOR2|branchiootorenal syndrome type 2|branchiootorenal syndrome 2|SIX5 branchio-oto-renal syndrome											DOID:0111424|UMLS:C1970479|OMIM:610896																		owl:Class
MONDO:0018358	biolink:NamedThing	neonatal autoimmune hemolytic anemia		mondoexuq1wtf	neonatal AIHA|neonatal AHA											Orphanet:398109|ICD10:D59.1																		owl:Class
MONDO:0007752	biolink:NamedThing	hyperheparinemia		mondoexuq1wtf	hyperheparinemia											OMIM:144050|ICD9:286.5|SCTID:79674009|UMLS:C3203346|MESH:C562723																		owl:Class
MONDO:0041114	biolink:NamedThing	peripheral ischemia	Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.	mondoexuq1wtf	peripheral ischemic vascular disease|peripheral ischemia											SCTID:233958001																		owl:Class
MONDO:0010566	biolink:NamedThing	X-linked cone-rod dystrophy 1		mondoexuq1wtf	CORDX1|X-linked cone-rod dystrophy type 1|cone dystrophy X-linked 1|cone-rod dystrophy X-linked 1|cone dystrophy 1, X-linked|COD1|cone-rod dystrophy, X-linked, type 1|cone-rod dystrophy, X-linked, 1|X-linked cone dystrophy 1											MESH:C564438|DOID:0111008|GARD:0010652|OMIM:304020														https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1				owl:Class
MONDO:0011482	biolink:NamedThing	dilated cardiomyopathy 1I	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in DES|CMD1I|dilated cardiomyopathy type 1I											MESH:C565752|DOID:0110431|ICD10:I42.0|UMLS:C1858154|OMIM:604765																		owl:Class
MONDO:0009541	biolink:NamedThing	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis		mondoexuq1wtf	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis											UMLS:C1855470|MESH:C565427|OMIM:247800																		owl:Class
MONDO:0004500	biolink:NamedThing	lung superior sulcus carcinoma	A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.	mondoexuq1wtf	superior sulcus carcinoma of the lung|superior sulcus lung carcinoma|superior sulcus carcinoma of lung											NCIT:C7779|UMLS:C1336529|DOID:8208																		owl:Class
MONDO:0006452	biolink:NamedThing	thymic sarcomatoid carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	mondoexuq1wtf	thymic spindle cell carcinoma|sarcomatoid carcinoma of the Thymus|Thymus sarcomatoid carcinoma|thymus sarcomatoid carcinoma|thymic carcinosarcoma|thymic sarcomatoid carcinoma|sarcomatoid carcinoma of Thymus											EFO:1000577|NCIT:C6463|UMLS:C1335924|DOID:8138																		owl:Class
MONDO:0006281	biolink:NamedThing	lung signet ring cell carcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.	mondoexuq1wtf	signet ring lung adenocarcinoma|lung signet ring cell carcinoma											EFO:1000338|NCIT:C45514|SCTID:707407001|ICD9:162.9|DOID:0080305																		owl:Class
MONDO:0008955	biolink:NamedThing	cerebrooculofacioskeletal syndrome 1	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	mondoexuq1wtf	cerebrooculofacioskeletal syndrome type 1|COFS syndrome|COFS syndrome caused by mutation in ERCC6|cerebrooculofacioskeletal syndrome 1|ERCC6 COFS syndrome|COFS1|Pena-Shokeir syndrome, type 2											OMIM:214150																		owl:Class
MONDO:0001293	biolink:NamedThing	subglottis cancer	A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	mondoexuq1wtf	malignant tumor of the subglottis|subglottis cancer|malignant subglottis neoplasm|malignant subglottis tumor|malignant neoplasm of the subglottis|Ca larynx - subglottis|malignant subglottic tumor|malignant neoplasm of subglottis|cancer of subglottis|malignant subglottic neoplasm|malignant tumor of subglottis											SCTID:363430007|ICD9:161.2|UMLS:C0153485|NCIT:C3546|ICD10:C32.2|DOID:11472																		owl:Class
MONDO:0016394	biolink:NamedThing	sporadic infantile bilateral striatal necrosis	Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	mondoexuq1wtf	acute bilateral striatal necrosis|ABSN|sporadic infantile striatonigral necrosis|sporadic IBSN|sporadic infantile striatonigral degeneration											Orphanet:225147|ICD10:G23.2																		owl:Class
MONDO:0030996	biolink:NamedThing	bleeding disorder, platelet-type, 24		mondoexuq1wtf	BDPLT24|bleeding disorder, platelet-type, 24|Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2											OMIM:619271																		owl:Class
MONDO:0014739	biolink:NamedThing	autosomal recessive nonsyndromic deafness 97	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.	mondoexuq1wtf	deafness, autosomal recessive 97|MET autosomal recessive nonsyndromic deafness|DFNB97|autosomal recessive nonsyndromic deafness caused by mutation in MET|deafness, autosomal recessive type 97|autosomal recessive nonsyndromic deafness type 97|autosomal recessive deafness 97											DOID:0110539|ICD10:H90.3|OMIM:616705|UMLS:C4084709																		owl:Class
MONDO:0030929	biolink:NamedThing	microcephaly 27, primary, autosomal dominant		mondoexuq1wtf	microcephaly 27, primary, autosomal dominant|MCPH27											OMIM:619180																		owl:Class
MONDO:0023091	biolink:NamedThing	esophageal atresia coloboma talipes		mondoexuq1wtf												GARD:0002196														https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes				owl:Class
MONDO:0020077	biolink:NamedThing	myelodysplastic/myeloproliferative disease	Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.	mondoexuq1wtf												MESH:D054437|GARD:0009351|Orphanet:98275																		owl:Class
MONDO:0022863	biolink:NamedThing	corneal crystals myopathy neuropathy		mondoexuq1wtf												GARD:0001526														https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy				owl:Class
MONDO:0023530	biolink:NamedThing	kallikrein hypertension		mondoexuq1wtf	kallikrein attenuated hypertension											HGNC:6357|UMLS:C1171349|MESH:C537707|GARD:0006811														https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension				owl:Class
MONDO:0012408	biolink:NamedThing	microphthalmia, isolated, with coloboma 3	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.	mondoexuq1wtf	microphthalmia, isolated, with coloboma caused by mutation in VSX2|microphthalmia, isolated, with coloboma type 3|MCOPCB3|microphthalmia, colobomatous, isolated 3|microphthalmia, isolated, with coloboma 3|VSX2 microphthalmia, isolated, with coloboma|microphthalmia, cataracts, and iris abnormalities											OMIM:610092|UMLS:C1864721																		owl:Class
MONDO:0022481	biolink:NamedThing	APO A-i deficiency		mondoexuq1wtf												GARD:0000758														https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency				owl:Class
MONDO:0000878	biolink:NamedThing	cytomegalovirus retinitis	Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.	mondoexuq1wtf	Retinitis, Cytomegaloviral|cytomegalovirus retinitis|Cytomegaloviral Retinitis|Cytomegalovirus retinitis|CMV retinitis|Cytomegalovirus caused retinitis											EFO:1001302|UMLS:C0206178|DOID:0080160|SCTID:22455005|GARD:0009531|NCIT:C50521|MESH:D017726														https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis				owl:Class
MONDO:0006699	biolink:NamedThing	choledocholithiasis	Presence or formation of gallstones in the common bile duct.	mondoexuq1wtf												DOID:11755|UMLS:C0701818|MESH:D042883|EFO:1000865|MedDRA:10049891																		owl:Class
MONDO:0054794	biolink:NamedThing	hydrocephalus, congenital, 3, with brain anomalies		mondoexuq1wtf	hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|hydrocephalus, CONGENITAL, 3, with brain anomalies|HYC3											OMIM:617967																		owl:Class
MONDO:0043233	biolink:NamedThing	exfoliative dermatitis	The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)	mondoexuq1wtf	exfoliative Dermatitides|erythroderma|Erythrodermas|dermatitis exfoliativa|exfoliative dermatitis|Dermatitides, exfoliative											MESH:D003873|GARD:0006393|UMLS:C0011606|SCTID:399992009|NCIT:C39646																		owl:Class
MONDO:0009083	biolink:NamedThing	conductive deafness-malformed external ear syndrome		mondoexuq1wtf	Mengel-Konigsmark syndrome|Ear deformity and conductive hearing loss|conductive deafness - malformed external ear|conductive hearing loss-malformed external ear syndrome|familial congenital moderate neural hearing loss|conductive deafness with malformed external ear|conductive hearing loss and malformed low-set ears|deafness, conductive, with malformed external EAR											UMLS:C1857341|Orphanet:3216|MESH:C565644|GARD:0001460|OMIM:221300																		owl:Class
MONDO:0021811	biolink:NamedThing	acute mountain sickness	Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.	mondoexuq1wtf	acute mountain sickness|high altitude pulmonary edema|Mountain sickness|altitude sickness|high altitude cerebral edema|soroche|acosta's disease|altitude anoxia											UMLS:C0238284|SCTID:78590007|ICD9:993.2|GARD:0005730														https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness				owl:Class
MONDO:0011942	biolink:NamedThing	systemic lupus erythematosus with nephritis, susceptibility to, 1		mondoexuq1wtf	SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1											OMIM:607965																		owl:Class
MONDO:0016210	biolink:NamedThing	alternating hemiplegia		mondoexuq1wtf												Orphanet:209978|SCTID:404689008																		owl:Class
MONDO:0032689	biolink:NamedThing	retinitis pigmentosa 85		mondoexuq1wtf	RP85|RETINITIS PIGMENTOSA 85											OMIM:618345																		owl:Class
MONDO:0014092	biolink:NamedThing	schizophrenia 18	A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.	mondoexuq1wtf	schizophrenia type 18|schizoaffective disorder|schizophrenia 18 with or without an affective disorder|schizophrenia 18|chromosome 7q36.3 Duplication syndrome, 362-Kb|SCZD18											OMIM:615232|DOID:0070093|UMLS:C3808913																		owl:Class
MONDO:0003490	biolink:NamedThing	ampulla of vater squamous cell carcinoma	A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	mondoexuq1wtf	ampulla of Vater squamous cell carcinoma|hepatopancreatic ampulla squamous cell carcinoma											DOID:5527|NCIT:C27417|UMLS:C1332251																		owl:Class
MONDO:0007692	biolink:NamedThing	hairy ears		mondoexuq1wtf	hypertrichosis pinnae auris|hairy ears											OMIM:139500|SCTID:89000008|MESH:C562484																		owl:Class
MONDO:0021326	biolink:NamedThing	malignant neoplasm of cervical esophagus	A cancer that involves the cervical part of esophagus.	mondoexuq1wtf	malignant neoplasm of cervical part of esophagus|malignant cervical part of esophagus neoplasm|cervical part of esophagus cancer|malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus											UMLS:C0496773|SCTID:187722004|ICD9:150.0|NCIT:C4763																		owl:Class
MONDO:0032749	biolink:NamedThing	deafness, autosomal recessive 94		mondoexuq1wtf	DFNB94|DEAFNESS, AUTOSOMAL RECESSIVE 94											OMIM:618434|DOID:0111641																		owl:Class
MONDO:0020125	biolink:NamedThing	acquired neuromuscular junction disease	An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired neuromuscular junction disease											Orphanet:98494|UMLS:CN207015																		owl:Class
MONDO:0019022	biolink:NamedThing	sensorineural hearing loss-early graying-essential tremor syndrome	Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.	mondoexuq1wtf												Orphanet:66633|UMLS:CN205488																		owl:Class
MONDO:0019885	biolink:NamedThing	distal trisomy 11q	Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.	mondoexuq1wtf	telomeric duplication 11q|distal trisomy type 11q|distal duplication 11q|trisomy 11qter											ICD10:Q92.3|Orphanet:96103|SCTID:764447009|MESH:C538294																		owl:Class
MONDO:0004637	biolink:NamedThing	aryepiglottic fold cancer	A malignant neoplasm involving the aryepiglottic fold.	mondoexuq1wtf	cancer of aryepiglottic fold|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|aryepiglottic fold cancer|malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm|malignant tumor aryepiglottic fold - hypopharyngeal aspect											ICD10:C13.1|SCTID:187708004|ICD9:148.2|DOID:8663																		owl:Class
MONDO:0009842	biolink:NamedThing	Pelger-Huet-like anomaly and episodic fever with abdominal pain		mondoexuq1wtf	Pelger-Huet-like anomaly and episodic fever with abdominal pain											OMIM:260570|UMLS:C1850054|MESH:C564899																		owl:Class
MONDO:0002701	biolink:NamedThing	ovarian mucinous cystadenocarcinoma	An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.	mondoexuq1wtf	mucinous cystadenocarcinoma of ovary|mucinous cystadenocarcinoma of the ovary|ovarian mucinous cystadenocarcinoma|ovary mucinous cystadenocarcinoma											EFO:1001963|DOID:3604|UMLS:C0279665|SCTID:254851009|NCIT:C4026																		owl:Class
MONDO:0004051	biolink:NamedThing	aleukemic monocytic leukemia cutis		mondoexuq1wtf	aleukemic monocytic leukemia cutis											DOID:6958|NCIT:C5630|UMLS:C1332232																		owl:Class
MONDO:0012005	biolink:NamedThing	growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy		mondoexuq1wtf	growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy											UMLS:C1842321|OMIM:608278|MESH:C564264																		owl:Class
MONDO:0018365	biolink:NamedThing	malignant non-epithelial tumor of ovary		mondoexuq1wtf	non-epithelial cancer of ovary|ovarian malignant non-epithelial tumor|ovarian non-epithelial cancer					Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma						Orphanet:398940|UMLS:CN205032																		owl:Class
MONDO:0005907	biolink:NamedThing	persian gulf syndrome	Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)	mondoexuq1wtf	Gulf war syndrome											SCTID:95877004|MESH:D018923|DOID:4491|EFO:0007430|UMLS:C0282550|ICD9:300.89																		owl:Class
MONDO:0013382	biolink:NamedThing	progressive demyelinating neuropathy with bilateral striatal necrosis	Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.	mondoexuq1wtf	progressive polyneuropathy with bilateral striatal necrosis|striatal Necrosis, bilateral, and progressive polyneuropathy|THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|bilateral striatal Degeneration and progressive polyneuropathy											Orphanet:217396|UMLS:C3150973|OMIM:613710																		owl:Class
MONDO:0017544	biolink:NamedThing	zygodactyly type 3		mondoexuq1wtf	syndactyly type 1, Montagu type|SD1c|Zygodactyly, Montagu type|SD1, Montagu type|syndactyly type 1c											ICD10:Q70.1|ICD10:Q70.0|ICD10:Q70.2|UMLS:CN203276|Orphanet:295191|ICD10:Q70.3																		owl:Class
MONDO:0100214	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIMPS:613658																		owl:Class
MONDO:0004492	biolink:NamedThing	mediastinitis	An inflammatory process affecting the mediastinum.	mondoexuq1wtf												ICD9:519.2|ICD10:J98.5|ICD10:J98.51|NCIT:C26827|DOID:819|MESH:D008480|UMLS:C0025064|SCTID:47597000|COHD:439045																		owl:Class
MONDO:0017101	biolink:NamedThing	isolated focal cortical dysplasia type IIa		mondoexuq1wtf	FCD type IIa											ICD10:Q04.8|Orphanet:269001																		owl:Class
MONDO:0007346	biolink:NamedThing	cochleosaccular degeneration-cataract syndrome	Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.	mondoexuq1wtf	Cochleosaccular Degeneration of the inner Ear with progressive cataracts|Cochleosaccular degeneration of the inner ear and progressive cataracts|Cochleosaccular Degeneration|COCHLEOSACCULAR degeneration with progressive cataracts											MESH:C536432|SCTID:715528001|OMIM:120040|UMLS:C1861512|Orphanet:3233|GARD:0009418														https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts				owl:Class
MONDO:0001571	biolink:NamedThing	gynecomastia	Development of breast tissue in males.	mondoexuq1wtf	hypertrophy of breast of male organism|male organism hypertrophy of breast											ICD10:N62|MESH:D006177|DOID:12698|UMLS:C0018418|NCIT:C3073|HP:0000771|SCTID:4754008																		owl:Class
MONDO:0005723	biolink:NamedThing	Cryptococcal meningitis	Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)	mondoexuq1wtf	Cryptococcus neoformans infectious meningitis|Cryptococcus neoformans caused infectious meningitis											COHD:432310|DOID:0080159|EFO:0007228|SCTID:14232007|MESH:D016919|ICD9:321.0																		owl:Class
MONDO:0006764	biolink:NamedThing	fungal meningitis	Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.	mondoexuq1wtf	Fungi infectious meningitis|Fungi caused infectious meningitis											UMLS:C0085438|ICD9:321.1|MESH:D016921|MedDRA:10017538|EFO:1000942|SCTID:24321005|COHD:432602|DOID:11608|ICD9:117.9																		owl:Class
MONDO:0006482	biolink:NamedThing	ureter small cell carcinoma	A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.	mondoexuq1wtf	small cell carcinoma of ureter|small cell carcinoma of the ureter|ureter small cell carcinoma|ureteral small cell carcinoma											DOID:6886|EFO:1000610|UMLS:C1336878|NCIT:C6176																		owl:Class
MONDO:0004520	biolink:NamedThing	intratubular embryonal carcinoma	Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)	mondoexuq1wtf	intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6|stage 0 testicular embryonal carcinoma aJCC v7|stage 0 testicular embryonal carcinoma aJCC v6 and v7											UMLS:C1336096|NCIT:C7325|DOID:8275																		owl:Class
MONDO:0011164	biolink:NamedThing	malignant hyperthermia, susceptibility to, 6		mondoexuq1wtf	MHS6|malignant hyperthermia, susceptibility to, type 6|malignant hyperthermia, susceptibility to, 6|Mhs6|malignant hyperpyrexia susceptibility type 6|malignant hyperthermia susceptibility type 6											MESH:C535699|GARD:0003368|OMIM:601888														https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6				owl:Class
MONDO:0019989	biolink:NamedThing	pauci-immune glomerulonephritis without ANCA	Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.	mondoexuq1wtf	antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis|pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody											Orphanet:97564|ICD10:N05.7																		owl:Class
MONDO:0008248	biolink:NamedThing	pigmented purpuric eruption		mondoexuq1wtf	pigmented purpuric dermatosis|familial pigmented purpuric eruption|pigmented purpura|Schamberg disease|pigmented purpuric eruption|progressive pigmented purpura|Schamberg purpura											OMIM:172900|UMLS:C0406515|SCTID:20343006|GARD:0007609|MESH:C537186																		owl:Class
MONDO:0020841	biolink:NamedThing	neurodevelopmental disorder with cerebellar atrophy and with or without seizures		mondoexuq1wtf	neurodevelopmental disorder with cerebellar atrophy and with or without seizures|NEDCAS											UMLS:CN252657|OMIM:618056																		owl:Class
MONDO:0016016	biolink:NamedThing	toluene embryopathy	Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.	mondoexuq1wtf	toluene embryopathy|Hersh Podruch Weisskopk syndrome|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency											ICD10:Q86.8|Orphanet:1920|UMLS:C2931737|MESH:C538114|GARD:0002672																		owl:Class
MONDO:0016457	biolink:NamedThing	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.	mondoexuq1wtf												Orphanet:228396|UMLS:CN201421|ICD10:Q87.0																		owl:Class
MONDO:0014133	biolink:NamedThing	developmental and epileptic encephalopathy, 16		mondoexuq1wtf	epileptic encephalopathy, early infantile, type 16|DEE16|epileptic encephalopathy, early infantile, 16|EIEE16											DOID:0080449|OMIM:615338|UMLS:C3809173																		owl:Class
MONDO:0012224	biolink:NamedThing	febrile seizures, familial, 6		mondoexuq1wtf	febrile seizures, familial, 6|convulsions, familial febrile, 6|FEB6											UMLS:C1836518|OMIM:609253|DOID:0111309|MESH:C563764																		owl:Class
MONDO:0032903	biolink:NamedThing	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum		mondoexuq1wtf	Zain Syndrome|arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|AMCNACC											OMIM:618766																		owl:Class
MONDO:0012717	biolink:NamedThing	renal hypomagnesemia 4	Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.	mondoexuq1wtf	familial primary hypomagnesemia caused by mutation in EGF|renal hypomagnesemia type 4|hypomagnesemia, renal, Normocalciuric|EGF familial primary hypomagnesemia|EGF primary hypomagnesemia|hypomagnesemia 4, renal|primary hypomagnesemia caused by mutation in EGF|HOMG4											ICD10:E83.4|DOID:0060882|OMIM:611718|UMLS:C2673648|MESH:C567127																		owl:Class
MONDO:0008336	biolink:NamedThing	pterygium colli, isolated		mondoexuq1wtf	pterygium colli, isolated											OMIM:177990|UMLS:C1867442|MESH:C566741																		owl:Class
MONDO:0021177	biolink:NamedThing	autoimmune hepatitis type 3	Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.	mondoexuq1wtf	autoimmune hepatitis type 3											UMLS:C4303162|SCTID:721713007																		owl:Class
MONDO:0030058	biolink:NamedThing	deafness, autosomal dominant 77		mondoexuq1wtf	DEAFNESS, AUTOSOMAL DOMINANT 77|deafness, autosomal dominant 77|DFNA77											OMIM:618915																		owl:Class
MONDO:0014699	biolink:NamedThing	intellectual disability, autosomal dominant 40	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.	mondoexuq1wtf	intellectual disability, autosomal dominant type 40|CHAMP1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|autosomal dominant non-syndromic intellectual disability 40|autosomal dominant mental retardation 40|mental retardation, autosomal dominant 40|MRD40|mental retardation, autosomal dominant type 40|autosomal dominant intellectual disability 40|intellectual disability, autosomal dominant 40											DOID:0070070|UMLS:C4225275|OMIM:616579																		owl:Class
MONDO:0001006	biolink:NamedThing	glaucomatous atrophy of optic disc		mondoexuq1wtf	glaucomatous atrophy [cupping] of optic disc											COHD:438155|ICD10:H47.23|SCTID:1207009|ICD9:377.14|DOID:10337|UMLS:C0271342																		owl:Class
MONDO:0010439	biolink:NamedThing	cardiomyopathy, fatal fetal, due to myocardial calcification		mondoexuq1wtf	myocardial calcifications resulting in intrauterine fetal death|cardiomyopathy, fatal fetal, due to myocardial calcification											MESH:C543241|GARD:0008311|UMLS:C1853577|OMIM:300829														https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification				owl:Class
MONDO:0004128	biolink:NamedThing	lung occult large cell carcinoma	A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	mondoexuq1wtf	occult large cell carcinoma of the lung|occult large cell lung carcinoma|occult large cell carcinoma of lung											DOID:7169|NCIT:C6685|UMLS:C1335095																		owl:Class
MONDO:0006141	biolink:NamedThing	cervical villoglandular adenocarcinoma	A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.	mondoexuq1wtf	cervical villoglandular carcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular adenocarcinoma of the cervix|villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular adenocarcinoma											ONCOTREE:VGCE|NCIT:C40208|EFO:1000170|UMLS:C4289808|DOID:8338																		owl:Class
MONDO:0044778	biolink:NamedThing	nodular lymphocyte predominant Hodgkin lymphoma	A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)	mondoexuq1wtf	nodular lymphocyte predominant Hodgkin's lymphoma|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS|NLPHL|nodular lymphocyte predominant Hodgkin lymphoma|Hodgkin lymphoma nodular lymphocyte predominant type, NOS											UMLS:C1334968|NCIT:C7258|Orphanet:86893|ONCOTREE:NLPHL|ICD10:C81.0|MEDGEN:233758																		owl:Class
MONDO:0010116	biolink:NamedThing	thoracomelic dysplasia		mondoexuq1wtf	thoracomelic dysplasia|Rivera-Perez-Salas syndrome|thoraco-limb dysplasia|'thoraco-limb' dysplasia|thoracolimb dysplasia, Rivera type											OMIM:273740|UMLS:C1848863|ICD10:Q77.2|Orphanet:1803|MESH:C564773|GARD:0010612																		owl:Class
MONDO:0032665	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 68		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68|Mental Retardation, Autosomal Recessive 68|MRT68											OMIM:618302																		owl:Class
MONDO:0010126	biolink:NamedThing	thymic aplasia with fetal death		mondoexuq1wtf	thymic aplasia with fetal death											MESH:C564768|OMIM:274210|UMLS:C1848815																		owl:Class
MONDO:0000966	biolink:NamedThing	pleomorphic lipoma	A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.	mondoexuq1wtf	pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality)											UMLS:C0205823|NCIT:C3703|ICDO:8854/0|DOID:10192|SCTID:404059000																		owl:Class
MONDO:0013012	biolink:NamedThing	inflammatory bowel disease 27	An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3	mondoexuq1wtf	inflammatory bowel disease 27|IBD27|inflammatory bowel disease type 27											UMLS:C2748550|DOID:0110902|OMIM:612796|MESH:C567559																		owl:Class
MONDO:0016452	biolink:NamedThing	idiopathic hypersomnia without long sleep time	Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.	mondoexuq1wtf												ICD10:G47.12|ICD10:F51.1|UMLS:C1561855|ICD9:327.12|Orphanet:228318|SCTID:442292004																		owl:Class
MONDO:0032933	biolink:NamedThing	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant		mondoexuq1wtf	CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT											OMIM:618815																		owl:Class
MONDO:0008291	biolink:NamedThing	porokeratosis plantaris palmaris et disseminata	Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.	mondoexuq1wtf	porokeratosis 2, palmar, plantar, and disseminated type|porokeratosis palmaris Et plantaris disseminata|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis plantaris palmaris et disseminata|palmar, plantar and disseminated porokeratosis|POROK2|porokeratosis, palmar, plantar, and disseminated											OMIM:175850|SCTID:718218005|ICD10:Q82.8|Orphanet:737																		owl:Class
MONDO:0009000	biolink:NamedThing	familial reactive perforating collagenosis	Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.	mondoexuq1wtf	inherited reactive perforating collagenosis|collagenosis, familial reactive perforating|RPC											UMLS:C1857624|GARD:0013331|MESH:C565687|OMIM:216700|ICD10:L87.1|Orphanet:79147														https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis				owl:Class
MONDO:0022824	biolink:NamedThing	congenital craniosynostosis maternal hyperthyroiditis		mondoexuq1wtf												GARD:0001478														https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis				owl:Class
MONDO:0015039	biolink:NamedThing	lissencephaly with cerebellar hypoplasia type F	Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.	mondoexuq1wtf												SCTID:715822007|ICD10:Q04.3|Orphanet:100016|UMLS:C4274989|UMLS:CN228905																		owl:Class
MONDO:0011952	biolink:NamedThing	amyotrophic lateral sclerosis type 7		mondoexuq1wtf	amyotrophic lateral sclerosis 7|ALS7											OMIM:608031|DOID:0060199|UMLS:C1842674|GARD:0010500|MESH:C564300														https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7				owl:Class
MONDO:0006722	biolink:NamedThing	dental fluorosis	A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.	mondoexuq1wtf	mottled teeth|intrinsic enamel discolouration of fluorosis|fluorosis|mottling of enamel											EFO:1000892|ICD10:K00.3|ICD9:520.3|NCIT:C85059|UMLS:C0026618|MESH:D009050|SCTID:30265004|MedDRA:10016819|DOID:13711																		owl:Class
MONDO:0007675	biolink:NamedThing	glutamic acid decarboxylase, brain, membrane form		mondoexuq1wtf	glutamic acid decarboxylase, brain, membrane form											OMIM:138277																		owl:Class
MONDO:0022545	biolink:NamedThing	Barnicoat Baraitser syndrome		mondoexuq1wtf	polysyndactyly overgrowth syndrome|Barnicoat-Baraitser syndrome					Editor note: check ORDO						GARD:0000825														https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome				owl:Class
MONDO:0002424	biolink:NamedThing	rectosigmoid carcinoma	A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.	mondoexuq1wtf	carcinoma of rectosigmoid junction|rectosigmoid carcinoma|rectosigmoid cancer|rectosigmoid junction carcinoma											DOID:2781|NCIT:C7421|UMLS:C1327709																		owl:Class
MONDO:0008629	biolink:NamedThing	urolithiasis, uric acid, autosomal dominant		mondoexuq1wtf	urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant											OMIM:191700|DOID:0080654																		owl:Class
MONDO:0025449	biolink:NamedThing	paratuberculosis	A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.	mondoexuq1wtf	Paratuberculoses|Johnes disease|disease, Johne|disease, Johne's|Johne's disease|Johne disease											MESH:D010283|UMLS:C0030524																		owl:Class
MONDO:0007589	biolink:NamedThing	exudative vitreoretinopathy 1		mondoexuq1wtf	exudative vitreoretinopathy 1|retinopathy of prematurity|Fevr, autosomal dominant|exudative vitreoretinopathy type 1|exudative vitreoretinopathy, familial, autosomal dominant|Criswick-Schepens syndrome|EVR1											OMIM:133780|DOID:0111412|UMLS:C1851402|MESH:C536382																		owl:Class
MONDO:0019123	biolink:NamedThing	continuous spikes and waves during sleep	Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.	mondoexuq1wtf	CSWSS syndrome|epileptic encephalopathy with continuous spike-and-wave during slow sleep|continuous spikes and waves during slow-wave sleep|CSWS											Orphanet:725|UMLS:CN181337|ICD10:F80.3|UMLS:C3806403|UMLS:CN205644																		owl:Class
MONDO:0032899	biolink:NamedThing	neutropenia, severe congenital, 8, autosomal dominant		mondoexuq1wtf	Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT|SCN8|Shwachman-Diamond Syndrome-Like											OMIM:618752																		owl:Class
MONDO:0003497	biolink:NamedThing	renal pelvis squamous cell carcinoma	A squamous cell carcinoma that involves the renal pelvis.	mondoexuq1wtf	renal pelvis epidermoid carcinoma|renal pelvis squamous cell carcinoma|squamous cell carcinoma of kidney pelvis|squamous cell carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|epidermoid carcinoma of the renal pelvis|epidermoid carcinoma of the kidney pelvis|kidney pelvis epidermoid carcinoma|kidney renal pelvis squamous cell cancer|renal pelvis squamous cell cancer|squamous cell carcinoma of renal pelvis|squamous cell carcinoma of the kidney pelvis|epidermoid carcinoma of renal pelvis|kidney pelvis squamous cell carcinoma											UMLS:C0238409|DOID:5534|NCIT:C7732																		owl:Class
MONDO:0010634	biolink:NamedThing	jaundice, familial obstructive, of infancy		mondoexuq1wtf	jaundice, familial obstructive, of infancy											OMIM:308600|MESH:C564118|UMLS:C1839927																		owl:Class
MONDO:0003126	biolink:NamedThing	breast hemangioma	A capillary or cavernous hemangioma arising from the breast.	mondoexuq1wtf	angioma of breast|hemangioma of the breast|breast angioma|breast hemangioma|hemangioma of breast|angioma of the breast											UMLS:C0853715|DOID:476|NCIT:C5353																		owl:Class
MONDO:0020270	biolink:NamedThing	pigmentation disorder with eye involvement		mondoexuq1wtf												UMLS:CN227844|Orphanet:98700																		owl:Class
MONDO:0018992	biolink:NamedThing	IgG4-related thyroid disease	Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.	mondoexuq1wtf	Riedel's fibrosing thyroiditis|Riedel disease|Riedel thyroiditis|Riedel fibrosing thyroiditis											Orphanet:64744|ICD10:E06.5|NCIT:C35827|UMLS:C1335787|SCTID:89024000|DOID:14351|MedDRA:10039142																		owl:Class
MONDO:0016848	biolink:NamedThing	juvenile temporal arteritis	Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.	mondoexuq1wtf	non-giant cell granulomatous temporal arteritis with eosinophilia|JGCA|JPMR|JTA|juvenile giant cell arteritis|juvenile cranial arteritis|juvenile polymyalgia rheumatica											Orphanet:26137|ICD10:L95.8|UMLS:C0751547|GARD:0003068|SCTID:722020006														https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis				owl:Class
MONDO:0020809	biolink:NamedThing	benign sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.	mondoexuq1wtf	Benign Sertoli Cell Tumor|Benign Androblastoma|SERTOLI CELL TUMOR, BENIGN											ICDO:8630/0|NCIT:C67012																		owl:Class
MONDO:0022777	biolink:NamedThing	cleft lip palate dysmorphism kumar type		mondoexuq1wtf												GARD:0001375														https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type				owl:Class
MONDO:0015399	biolink:NamedThing	glossopalatine ankylosis	Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.	mondoexuq1wtf	Cosack syndrome											UMLS:C4303569|Orphanet:141163|ICD10:Q38.3|SCTID:717814004|UMLS:CN199497																		owl:Class
MONDO:0014711	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2W	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, type 2w|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2W|Charcot-Marie-Tooth neuropathy type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|CMT2W|Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal type 2W											Orphanet:488333|OMIM:616625|DOID:0110162|UMLS:C4225265																		owl:Class
MONDO:0021722	biolink:NamedThing	vulvodynia	Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.	mondoexuq1wtf	vulvodynia											ICD9:625.70|SCTID:238968009|MESH:D056650																		owl:Class
MONDO:0007150	biolink:NamedThing	arcus senilis	A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.	mondoexuq1wtf	arcus of cornea|corneal arcus|arcus corneae|arcus senilis											EFO:1000818|UMLS:C0003742|OMIM:107800|MedDRA:10003082|SCTID:231924000|MESH:D001112|DOID:11342|ICD10:H18.41																		owl:Class
MONDO:0019767	biolink:NamedThing	hamel cerebro-palato-cardiac syndrome	Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	mondoexuq1wtf												UMLS:CN206702|Orphanet:93946																		owl:Class
MONDO:0010612	biolink:NamedThing	hydrocephaly-cerebellar agenesis syndrome	This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.	mondoexuq1wtf	cerebellum agenesis hydrocephaly|hydrocephalus with cerebellar agenesis|X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome											UMLS:C1844005|ICD10:Q04.3|OMIM:307010|GARD:0001200|MESH:C564407|Orphanet:1397														https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly				owl:Class
MONDO:0016371	biolink:NamedThing	combined hyperactive dysfunction syndrome of the cranial nerves		mondoexuq1wtf												Orphanet:221078|UMLS:CN201241																		owl:Class
MONDO:0011252	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Shohat type	Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.	mondoexuq1wtf	spondyloepimetaphyseal dysplasia Shohat type|spondyloepimetaphyseal dysplasia, Shohat type|SEMD, Shohat type|SEMD Shohat type|SEMDSH											GARD:0004980|OMIM:602557|SCTID:719201004|MESH:C566523|Orphanet:93352|UMLS:C1865185|ICD10:Q77.7														https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type				owl:Class
MONDO:0008348	biolink:NamedThing	pulmonary nodular lymphoid hyperplasia	Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.	mondoexuq1wtf	pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial											UMLS:C1334969|OMIM:178610|UMLS:C1867419|SCTID:718097008|Orphanet:60026																		owl:Class
MONDO:0011700	biolink:NamedThing	inflammatory bowel disease 6	An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.	mondoexuq1wtf	inflammatory bowel disease 6|IBD6|inflammatory bowel disease type 6											OMIM:606674|UMLS:C1847692|DOID:0110907|MESH:C564681																		owl:Class
MONDO:0009907	biolink:NamedThing	Prepapillary vascular loops		mondoexuq1wtf	preretinal vascular loops|Prepapillary vascular loops											MESH:C563287|SCTID:424728002|OMIM:264060																		owl:Class
MONDO:0020378	biolink:NamedThing	early-onset posterior polar cataract		mondoexuq1wtf												Orphanet:98993|ICD10:Q12.0																		owl:Class
MONDO:0010770	biolink:NamedThing	ubiquitin-activating enzyme, Y-linked		mondoexuq1wtf	ubiquitin-activating enzyme, Y-linked|Ube1Y											OMIM:489000																		owl:Class
MONDO:0014087	biolink:NamedThing	Smith-McCort dysplasia 2	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.	mondoexuq1wtf	Smith-McCort dysplasia caused by mutation in RAB33B|Smith-McCort dysplasia 2|SMITH-McCort dysplasia 2|RAB33B Smith-McCort dysplasia|Smc2|Smith-McCort dysplasia type 2											OMIM:615222|UMLS:C3714896																		owl:Class
MONDO:0006851	biolink:NamedThing	meconium aspiration syndrome	A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.	mondoexuq1wtf	meconium inhalation|aspiration, meconium|meconium aspiration syndrome|MAS|meconium aspiration|syndrome, meconium aspiration|aspiration syndrome, meconium|neonatal aspiration of meconium					Editor note: ORDO says this is rare, yet NCIT says 5-10% of births						MESH:D008471|DOID:11049|ICD10:P24.01|COHD:437374|SCTID:206292002|NCIT:C87093|ICD9:770.1|Orphanet:70588|EFO:1001037|UMLS:C0025048|ICD10:P24.00|ICD10:P24.0|MedDRA:10027057|GARD:0010494																		owl:Class
MONDO:0019939	biolink:NamedThing	early-onset schizophrenia		mondoexuq1wtf												Orphanet:96369|ICD10:F20.8																		owl:Class
MONDO:0009808	biolink:NamedThing	osteoid osteoma	A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.	mondoexuq1wtf	osteoid osteoma|osteoid osteoma (disease)		osteoid osteoma (disease)									UMLS:C0029441|MESH:D010017|SCTID:302859004|NCIT:C3297|HP:0030433|ICDO:9191/0|OMIM:259550																		owl:Class
MONDO:0013078	biolink:NamedThing	type 1 diabetes mellitus 24	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 24|insulin-dependent diabetes mellitus 24|IDDM24											OMIM:613006|MESH:C567818|DOID:0110761|UMLS:C2751697|ICD10:E10																		owl:Class
MONDO:0016986	biolink:NamedThing	congenital smooth muscle hamartoma	Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.	mondoexuq1wtf												SCTID:239144007|Orphanet:263435|UMLS:C0406819|ICD9:759.6																		owl:Class
MONDO:0003745	biolink:NamedThing	choroid spindle cell melanoma	A spindle cell melanoma that involves the optic choroid.	mondoexuq1wtf	spindle cell melanoma of optic choroid|optic choroid spindle cell melanoma|spindle cell melanoma of the choroid|spindle cell melanoma of choroid											UMLS:C1333027|NCIT:C6099|DOID:6041																		owl:Class
MONDO:0032581	biolink:NamedThing	nephrotic syndrome, type 18		mondoexuq1wtf	NEPHROTIC SYNDROME, TYPE 18|NPHS18											OMIM:618177|DOID:0080393																		owl:Class
MONDO:0008105	biolink:NamedThing	nose, anomalous shape of		mondoexuq1wtf	nose, anomalous shape of|potato Nose											OMIM:164000|GARD:0010040|MESH:C538354																		owl:Class
MONDO:0016418	biolink:NamedThing	multiple system atrophy, cerebellar type	Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).	mondoexuq1wtf	sporadic OPCA type 1|MSA-c|sporadic olivopontocerebellar atrophy type 1|MSA, cerebellar type											UMLS:CN201371|Orphanet:227510|ICD10:G90.3																		owl:Class
MONDO:0013027	biolink:NamedThing	posterior amorphous corneal dystrophy	Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.	mondoexuq1wtf	posterior amorphous stromal dystrophy|corneal dystrophy, POSTERIOR amorphous|chromosome 12Q21.33 deletion syndrome|posterior amorphous corneal dystrophy|PACD											DOID:0060452|SCTID:719296002|UMLS:C2748502|OMIM:612868|Orphanet:98971|MESH:C567546|ICD10:H18.5																		owl:Class
MONDO:0032660	biolink:NamedThing	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant		mondoexuq1wtf	SMALED2B|SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT											OMIM:618291|DOID:0070350																		owl:Class
MONDO:0005037	biolink:NamedThing	gastric intestinal type adenocarcinoma	An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.	mondoexuq1wtf	intestinal stomach adenocarcinoma|intestinal type stomach adenocarcinoma|gastric intestinal type adenocarcinoma|intestinal adenocarcinoma of stomach|intestinal gastric adenocarcinoma|intestinal adenocarcinoma of the stomach|gastric intestinal-type adenocarcinoma											EFO:0000504|NCIT:C9157|ONCOTREE:ISTAD|UMLS:C0279633																		owl:Class
MONDO:0004644	biolink:NamedThing	subacute monocytic leukemia		mondoexuq1wtf												ICD9:206.2|SCTID:188746008|ICD9:206.20|UMLS:C0152275|COHD:313430|DOID:8696																		owl:Class
MONDO:0006033	biolink:NamedThing	diffuse intrinsic pontine glioma	A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.	mondoexuq1wtf	infiltrative brainstem glioma|DIPG											UMLS:C2986658|GARD:0013075|EFO:1000026|ONCOTREE:DIPG|NCIT:C94764|Orphanet:497188														https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma				owl:Class
MONDO:0008776	biolink:NamedThing	amyloidosis of gingiva and conjunctiva, with intellectual disability		mondoexuq1wtf	amyloidosis of gingiva and conjunctiva with mental retardation|Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva with intellectual disability|amyloidosis of gingiva and conjunctiva, with intellectual disability											GARD:0000657|OMIM:204850|MESH:C565958|UMLS:C1859815														https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability				owl:Class
MONDO:0008639	biolink:NamedThing	vascular helix of umbilical cord		mondoexuq1wtf	vascular helix of umbilical cord											OMIM:192300																		owl:Class
MONDO:0016130	biolink:NamedThing	fungal myositis		mondoexuq1wtf												UMLS:C0410251|SCTID:240111007|Orphanet:207000|ICD10:M60.0																		owl:Class
MONDO:0006988	biolink:NamedThing	sulfhemoglobinemia	A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)	mondoexuq1wtf	Sulfemoglobinemia											UMLS:C0038732|EFO:1001200|MedDRA:10042481|DOID:12451|SCTID:32117000|MESH:D013436																		owl:Class
CL:0000831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011844	biolink:NamedThing	myoclonic dystonia 15	A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.	mondoexuq1wtf	myoclonic dystonia type 15|dystonia 15, myoclonic|DYT15											MESH:C538002|DOID:0090035|OMIM:607488|UMLS:C1843786|Orphanet:210566																		owl:Class
MONDO:0006728	biolink:NamedThing	discitis	Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others.	mondoexuq1wtf	inflammation of intervertebral disk|intervertebral disk inflammation											MESH:D015299|ICD9:722.90|ICD10:M46.4|DOID:10986|SCTID:2304001|UMLS:C0012624|EFO:1000900																		owl:Class
MONDO:0006729	biolink:NamedThing	discrete subaortic stenosis	A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.	mondoexuq1wtf												DOID:5804|UMLS:C0012628|EFO:1000901|MESH:D021922																		owl:Class
MONDO:0002669	biolink:NamedThing	ampullary signet ring cell adenocarcinoma	An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.	mondoexuq1wtf	ampullary signet Ring cell carcinoma|ampullary signet ring cell carcinoma|ampulla of Vater signet Ring cell carcinoma											UMLS:C1332249|NCIT:C6656|DOID:3501																		owl:Class
MONDO:0035121	biolink:NamedThing	myeloid/lymphoid neoplasm associated with JAK2 rearrangement		mondoexuq1wtf	myeloid/lymphoid neoplasms with PCM1-JAK2											Orphanet:589542																		owl:Class
MONDO:0020667	biolink:NamedThing	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		mondoexuq1wtf	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|multisynostotic osteodysgenesis with long bone fractures|ABS2|trapezoidocephaly-synostosis Syndrome|osteodysgenesis, multisynostotic, with fractures											OMIM:207410																		owl:Class
MONDO:0011458	biolink:NamedThing	Leber congenital amaurosis 4	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.	mondoexuq1wtf	retinitis pigmentosa, juvenile, Aipl1-related|cone-rod dystrophy, Aipl1-related|Leber congenital amaurosis type 4|LCA4|Leber congenital amaurosis 4|amaurosis congenita of Leber, type 4|AIPL1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in AIPL1											MESH:C565778|OMIM:604393|ICD10:H35.5|GARD:0009662|DOID:0110332|UMLS:C1858386														https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4				owl:Class
MONDO:0004533	biolink:NamedThing	perineural angioma	A hemangioma arising from perineural tissues.	mondoexuq1wtf	perineural hemangioma											NCIT:C6526|DOID:8331|UMLS:C1335382																		owl:Class
MONDO:0012732	biolink:NamedThing	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus		mondoexuq1wtf	ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus											OMIM:611808|UMLS:C2678494|MESH:C567519																		owl:Class
MONDO:0014362	biolink:NamedThing	chromosome 16 inversion, 0.45-Mb		mondoexuq1wtf	chromosome 16 inversion, 0.45-Mb											OMIM:615835																		owl:Class
CL:1001318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007940	biolink:NamedThing	malignant hyperthermia, susceptibility to, 3		mondoexuq1wtf	malignant hyperthermia, susceptibility to, 3|malignant hyperthermia susceptibility type 3|Mhs3|malignant hyperpyrexia susceptibility type 3|MHS3|malignant hyperthermia, susceptibility to, type 3											MESH:C535696|GARD:0003365|OMIM:154276														https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3				owl:Class
MONDO:0016758	biolink:NamedThing	microcephaly-brain defect-spasticity-hypernatremia syndrome	Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.	mondoexuq1wtf	Franek-Bocker-Kahlen syndrome|microcephaly - brain defect - spasticity - hypernatremia|microcephaly brain defect spasticity hypernatremia											UMLS:CN202009|ICD10:G98|GARD:0003607|Orphanet:2523														https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia				owl:Class
MONDO:0021377	biolink:NamedThing	hypertrophic lichen planus	A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.	mondoexuq1wtf	lichen planus hypertrophicus|Hypertrophic lichen planus|Lichen planus hypertrophicus|Hypertrophic Lichen Planus|hypertrophic lichen planus											NCIT:C34779|UMLS:C0023649|SCTID:68266006																		owl:Class
MONDO:0014625	biolink:NamedThing	developmental and epileptic encephalopathy, 33	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.	mondoexuq1wtf	DEE33|EEF1A2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 33|early infantile epileptic encephalopathy caused by mutation in EEF1A2|epileptic encephalopathy, early infantile, type 33|EIEE33											DOID:0080463|UMLS:C4225337|OMIM:616409																		owl:Class
MONDO:0011319	biolink:NamedThing	activator of liver function 1		mondoexuq1wtf	activator of liver function 1|RPL21P1|ribosomal PROTEIN L21 pseudogene 1|ALFN1|ribosomal Protein L21 pseudogene 1|activator of liver function type 1|Half1											OMIM:603416																		owl:Class
MONDO:0006197	biolink:NamedThing	endometrial small cell carcinoma	A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.	mondoexuq1wtf	small cell carcinoma of endometrium|endometrial small cell carcinoma|endometrium small cell carcinoma											NCIT:C40155|DOID:7139|UMLS:C1516858|EFO:1000239																		owl:Class
MONDO:0006120	biolink:NamedThing	C-cell hyperplasia	Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).	mondoexuq1wtf	C-cell hyperplasia											EFO:1000147|UMLS:C0342190|NCIT:C46100																		owl:Class
MONDO:0011219	biolink:NamedThing	Fried's tooth and nail syndrome		mondoexuq1wtf	ECTD8|ectodermal dysplasia 8, hair/tooth/nail type											SCTID:239020008|OMIM:602401|Orphanet:99672|DOID:0111661|UMLS:C0406715																		owl:Class
MONDO:0001184	biolink:NamedThing	chronic rapidly progressive glomerulonephritis	Chronic form of rapidly progressive glomerulonephritis.	mondoexuq1wtf	chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic											COHD:442076|DOID:11036|SCTID:197614002|UMLS:C0341694|ICD9:582.4																		owl:Class
MONDO:0013192	biolink:NamedThing	spondyloarthropathy, susceptibility to, 3		mondoexuq1wtf	SPDA3|spondyloarthropathy, susceptibility to, 3											OMIM:613238|DOID:0080605																		owl:Class
MONDO:0030961	biolink:NamedThing	Olmsted syndrome 2		mondoexuq1wtf	Olmsted syndrome 2|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2|OLMS2											OMIM:619208																		owl:Class
MONDO:0017558	biolink:NamedThing	congenital elbow dislocation, unilateral		mondoexuq1wtf												ICD10:Q68.8|Orphanet:295225																		owl:Class
MONDO:0002845	biolink:NamedThing	necrotizing gastritis	A variant of phlegmonous gastritis, typically progressing to gastric gangrene.	mondoexuq1wtf	necrotizing gastritis											UMLS:C0877152|DOID:4037|NCIT:C27329																		owl:Class
MONDO:0012101	biolink:NamedThing	glaucoma 1, open angle, J		mondoexuq1wtf	GLC1J|glaucoma 1, open angle, J|JOAG2|JOAG1J|glaucoma, primary open angle, juvenile-onset, 2											UMLS:C1837528|MESH:C563874|OMIM:608695																		owl:Class
MONDO:0032883	biolink:NamedThing	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures		mondoexuq1wtf	IDDBCS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES											OMIM:618725																		owl:Class
MONDO:0006564	biolink:NamedThing	irritant dermatitis	An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.	mondoexuq1wtf	irritant contact dermatitis|primary irritant dermatitis											UMLS:C0162823|ICD10:L24.9|NCIT:C27151|ICD9:692.9|EFO:1000718|ICD10:L24|SCTID:110979008|MESH:D017453|COHD:4004352|DOID:2772																		owl:Class
MONDO:0007433	biolink:NamedThing	dementia/parkinsonism with non-Alzheimer amyloid plaques		mondoexuq1wtf	dementia/parkinsonism with non-Alzheimer amyloid plaques											OMIM:125320|MESH:C565115|UMLS:C1852223																		owl:Class
MONDO:0007161	biolink:NamedThing	spermatogenic failure 2		mondoexuq1wtf	SPGF2|Aspermiogenesis Factor|spermatogenic failure 2											DOID:0070164|OMIM:108420																		owl:Class
MONDO:0011161	biolink:NamedThing	sperm-specific antigen 1		mondoexuq1wtf	fertilization antigen 1|sperm-specific antigen 1|sperm-specific antigen type 1|SSFA1											OMIM:601876																		owl:Class
MONDO:0010197	biolink:NamedThing	whistling face syndrome, recessive form		mondoexuq1wtf	whistling face syndrome, recessive form											DOID:0111606|GARD:0010024|MESH:C536699|UMLS:C1848470|OMIM:277720														https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form				owl:Class
MONDO:0013689	biolink:NamedThing	ovarian dysgenesis 3	Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.	mondoexuq1wtf	PSMC3IP 46 XX gonadal dysgenesis|ODG3|ovarian dysgenesis 3|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP											OMIM:614324|UMLS:C3280471|DOID:0080495																		owl:Class
MONDO:0014828	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 3	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.	mondoexuq1wtf	immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|ICF3|ICF syndrome 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome type 3											ICD10:D84.8|OMIM:616910|DOID:0090010|UMLS:C4310799																		owl:Class
MONDO:0007664	biolink:NamedThing	glaucoma 1, open angle, A	Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.	mondoexuq1wtf	juvenile glaucoma caused by mutation in MYOC|glaucoma 1, open angle, 50|glaucoma, primary open angle, juvenile-onset, 1|MYOC juvenile open angle glaucoma|glaucoma hereditary, juvenile|glaucoma 1, open angle, A|JOAG1A|glaucoma 1, open angle, type A|MYOC juvenile glaucoma|juvenile open angle glaucoma caused by mutation in MYOC|primary open angle glaucoma juvenile onset 1|GLC1A|JOAG1											UMLS:C1842028|OMIM:137750|MESH:C564234|GARD:0009485																		owl:Class
MONDO:0020715	biolink:NamedThing	Multiple system atrophy 1, susceptibility to		mondoexuq1wtf	MSA1|multiple system atrophy 1, susceptibility to|Msa1, susceptibility to																													owl:Class
MONDO:0001953	biolink:NamedThing	pyuria	The presence of excessive white blood cells in the urine as determined by urinalysis.	mondoexuq1wtf	pyuria (disease)|pus cells in urine|pyuria		pyuria (disease)									MESH:D011776|DOID:1439|HP:0012085																		owl:Class
MONDO:0012863	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 6		mondoexuq1wtf	digit span quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 6|Adhd6|attention deficit-hyperactivity disorder, susceptibility to, 6											OMIM:612312																		owl:Class
MONDO:0019196	biolink:NamedThing	Foix-Alajouanine syndrome	Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.	mondoexuq1wtf	Subacute ascending necrotizing myelitis|Subacute necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute angiohypertrophic myelomalacia|angiodysgenetic necrotizing myelopathy											ICD10:G37.4|UMLS:CN205776|ICD9:323.9|Orphanet:79093|SCTID:230379007																		owl:Class
MONDO:0011971	biolink:NamedThing	hyper-IgM syndrome type 5	Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.	mondoexuq1wtf	immunodeficiency with hyper-IgM, type 5|hyper IgM syndrome 5|hyper-IgM syndrome 5|UNG hyper-IgM syndrome|immunodeficiency with hyper IgM type 5|hyper-IgM syndrome caused by mutation in UNG|HIGM5|hyper-IgM syndrome due to UNG deficiency|hyper-IgM syndrome due to uracil N-glycosylase											GARD:0010581|Orphanet:101092|ICD10:D80.5|DOID:0060759|OMIM:608106														https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5				owl:Class
MONDO:0018360	biolink:NamedThing	neonatal lupus erythematosus	A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.	mondoexuq1wtf	congenital lupus erythematosus|neonatal lupus|neonatal SLE|congenital lupus|neonatal systemic lupus erythematosus|neonatal lupus syndrome											NCIT:C99236|MESH:C536397|ICD10:M32.8|Orphanet:398124|UMLS:C0409979|SCTID:95609003|GARD:0009563|EFO:0004537																		owl:Class
MONDO:0007713	biolink:NamedThing	clonic hemifacial spasm		mondoexuq1wtf	focal myoclonus of face|hemifacial spasm|facial hemispasm|hemifacial spasm, familial											COHD:4160055|UMLS:C1841639|MESH:C564198|Orphanet:221083|OMIM:141405|ICD10:G51.3|UMLS:C3536936																		owl:Class
MONDO:0100379	biolink:NamedThing	acute myeloid leukemia, t(1;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)	mondoexuq1wtf	AML, t(1;11)(q21;q23)																													owl:Class
MONDO:0005535	biolink:NamedThing	oral Crohn disease	Crohn's disease affecting the mouth.	mondoexuq1wtf	oral Crohn's disease											UMLS:C0399497|EFO:0005625|SCTID:196578009																		owl:Class
MONDO:0000840	biolink:NamedThing	dysbaric osteonecrosis	A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.	mondoexuq1wtf	caisson disease of bone|DON											SCTID:431591000124102|DOID:0080018																		owl:Class
MONDO:0017060	biolink:NamedThing	open iniencephaly		mondoexuq1wtf												ICD10:Q00.2|SCTID:203928008|Orphanet:268363																		owl:Class
MONDO:0007654	biolink:NamedThing	genu valgum, st. Helena familial		mondoexuq1wtf	hereditary pubertal genu valgum|St. Helena familial genu valgum|genu valgum, st. Helena familial|genu valgum, hereditary pubertal|severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|genu valgum, st Helena familial											MESH:C537685|OMIM:137370|GARD:0008429|UMLS:C1842052														https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial				owl:Class
MONDO:0017222	biolink:NamedThing	Pelizaeus-Merzbacher disease, classic form	The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.	mondoexuq1wtf	classic PMD											ICD10:E75.2|SCTID:87607002|Orphanet:280219																		owl:Class
MONDO:0019873	biolink:NamedThing	4p16.3 microduplication syndrome	4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.	mondoexuq1wtf	distal trisomy 4p|telomeric duplication 4p|distal duplication 4p|trisomy 4pter											UMLS:CN206808|ICD10:Q92.3|SCTID:726706008|UMLS:C4512053|Orphanet:96072																		owl:Class
MONDO:0020791	biolink:NamedThing	corneal dystrophy, Meesmann, 1		mondoexuq1wtf	Meesmann Corneal Dystrophy|CORNEAL DYSTROPHY, MEESMANN, 1|MECD1|Corneal Dystrophy, Meesmann Epithelial|Corneal Dystrophy, Juvenile Epithelial, of Meesmann											OMIM:122100																		owl:Class
MONDO:0011172	biolink:NamedThing	otofacioosseous-gonadal syndrome		mondoexuq1wtf	otofacioosseous-gonadal syndrome											MESH:C566597|OMIM:601976|UMLS:C1865988																		owl:Class
MONDO:0015468	biolink:NamedThing	craniosynostosis-cataract syndrome		mondoexuq1wtf												UMLS:CN226684|ICD10:Q75.0|Orphanet:1530																		owl:Class
MONDO:0015782	biolink:NamedThing	dysmorphism-cleft palate-loose skin syndrome	Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	mondoexuq1wtf												Orphanet:1779|UMLS:CN200364																		owl:Class
MONDO:0018991	biolink:NamedThing	hepatoportal sclerosis	Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.	mondoexuq1wtf	obliterative portal venopathy											Orphanet:64743|SCTID:718096004|UMLS:C4273756|ICD10:K74.1																		owl:Class
MONDO:0002706	biolink:NamedThing	cervix endometriosis	Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.	mondoexuq1wtf	endometriosis (disease) of uterine cervix|cervical endometriosis|endometriosis of cervix|uterine cervix endometriosis (disease)											UMLS:C0269107|SCTID:61640006|DOID:361|NCIT:C27623																		owl:Class
MONDO:0007385	biolink:NamedThing	idiopathic spontaneous coronary artery dissection		mondoexuq1wtf	coronary artery dissection, spontaneous|idiopathic SCAD											OMIM:122455|ICD10:I25.4|Orphanet:458718|UMLS:C1852540|MESH:C565153																		owl:Class
MONDO:0013376	biolink:NamedThing	microphthalmia, isolated, with coloboma 6		mondoexuq1wtf	microphthalmia, isolated, with coloboma type 6|MCOPCB6|microphthalmia, isolated, with coloboma 6											UMLS:C3150968|OMIM:613703																		owl:Class
MONDO:0016853	biolink:NamedThing	ring chromosome Y	Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	mondoexuq1wtf	r(Y)|Ring chromosome Y syndrome|Ring chromosome type Y											SCTID:763407008|Orphanet:261529|ICD10:Q98.6																		owl:Class
MONDO:0002556	biolink:NamedThing	microcystic/reticular schwannoma	The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.	mondoexuq1wtf	microcystic/reticular schwannoma											UMLS:C4054526|NCIT:C5321																		owl:Class
MONDO:0009951	biolink:NamedThing	radiculoneuropathy, fatal neonatal		mondoexuq1wtf	Radiculoneuropathy, fatal neonatal											MESH:C564857|UMLS:C1849471|OMIM:266250																		owl:Class
MONDO:0018137	biolink:NamedThing	temperature-sensitive oculocutaneous albinism type 1	Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).	mondoexuq1wtf	OCA1-TS|TS OCA type 1											UMLS:C1847132|ICD10:E70.3|Orphanet:352737																		owl:Class
MONDO:0060577	biolink:NamedThing	neurodevelopmental disorder with microcephaly, ataxia, and seizures		mondoexuq1wtf	NEDMAS|neurodevelopmental disorder with microcephaly, ataxia, and seizures											OMIM:617709|UMLS:C4540188																		owl:Class
MONDO:0008937	biolink:NamedThing	cerebellar ataxia, benign, with thermoanalgesia		mondoexuq1wtf	cerebellar ataxia with loss of pain and temperature sensation|cerebellar ataxia, benign, with thermoanalgesia											UMLS:C1859303|OMIM:212890|MESH:C565868																		owl:Class
MONDO:0001338	biolink:NamedThing	acute apical periodontitis		mondoexuq1wtf	acute apical periodontitis of pulpal origin											UMLS:C4084770|SCTID:718053009|ICD9:522.4|COHD:132659|DOID:11693|ICD10:K04.4																		owl:Class
MONDO:0006774	biolink:NamedThing	habitual spontaneous abortion	Three or more consecutive spontaneous abortions.	mondoexuq1wtf												SCTID:102878001|MedDRA:10062935|ICD10:N96|EFO:1000954|MESH:D000026																		owl:Class
MONDO:0009850	biolink:NamedThing	periodontitis, chronic, adult		mondoexuq1wtf	periodontitis, chronic|periodontitis, adult											UMLS:C0266929|SCTID:74797001|OMIM:260950																		owl:Class
MONDO:0005482	biolink:NamedThing	molar-incisor hypomineralization	A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors	mondoexuq1wtf												ICD9:520.5|SCTID:698053001|EFO:0005321																		owl:Class
MONDO:0030939	biolink:NamedThing	premature ovarian failure 18		mondoexuq1wtf	POF18|premature ovarian failure 18											OMIM:619203																		owl:Class
MONDO:0024229	biolink:NamedThing	miliaria crystallina	A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.	mondoexuq1wtf												ICD10CM:L74.1|DOID:0070321																		owl:Class
MONDO:0029131	biolink:NamedThing	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		mondoexuq1wtf	PNRIID|peripheral neuropathy, autosomal recessive, with or without impaired intellectual development											OMIM:618124																		owl:Class
MONDO:0003290	biolink:NamedThing	simple partial epilepsy		mondoexuq1wtf												ICD9:345.51|DOID:5129																		owl:Class
MONDO:0013777	biolink:NamedThing	pseudohypoaldosteronism type 2B	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.	mondoexuq1wtf	PHA2B|pseudohypoaldosteronism type 2 caused by mutation in WNK4|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIB|pseudohypoaldosteronism, type 2B											OMIM:614491|ICD10:I15.1|UMLS:C1840390|MESH:C564161|Orphanet:88939																		owl:Class
MONDO:0004874	biolink:NamedThing	ganglion or cyst of synovium/tendon/bursa		mondoexuq1wtf												DOID:9754|ICD9:727.49																		owl:Class
MONDO:0024330	biolink:NamedThing	infectious otitis media	Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.	mondoexuq1wtf	middle Ear infection|infectious otitis Media|otitis media|acute otitis Media|AOM											UMLS:C0271429|UMLS:C2827407|NCIT:C84354																		owl:Class
MONDO:0021067	biolink:NamedThing	mediastinal germ cell tumor	A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.	mondoexuq1wtf	mediastinal germ cell neoplasm|thymic germ cell tumor|mediastinal germ cell tumor|mediastinum germ cell tumor|germ cell tumor of the mediastinum|germ cell tumor of mediastinum|germ cell neoplasm of mediastinum|germ cell neoplasm of the mediastinum											NCIT:C6437|UMLS:C1334655																		owl:Class
MONDO:0006960	biolink:NamedThing	sciatic neuropathy	Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)	mondoexuq1wtf												MedDRA:10048950|MESH:D020426|UMLS:C0149940|SCTID:52585001|EFO:1001166|DOID:11446																		owl:Class
MONDO:0007435	biolink:NamedThing	dentatorubral-pallidoluysian atrophy	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.	mondoexuq1wtf	Dentatorubropallidoluysian atrophy|haw River syndrome|myoclonic epilepsy with choreoathetosis|dentatorubral-pallidoluysian atrophy|Naito Oyanagi disease|dentatorubral pallidoluysian atrophy|DRPLA|NOD|Naito-Oyanagi disease|ataxia, chorea, seizures, and dementia											UMLS:C0751781|Orphanet:101|DOID:0060162|ICD10:G11.8|SCTID:68116008|ICD9:333.99|OMIM:125370|GARD:0005643|NCIT:C122653														https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy				owl:Class
MONDO:0012830	biolink:NamedThing	chromosome 10q23 deletion syndrome	10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	mondoexuq1wtf	deletion 10q22.3q23.3|10q22.3q23.3 microdeletion syndrome|chromosome 10Q22.3-q23.2 deletion syndrome|Del(10)(q22.3q23.3)|chromosome 10q23 deletion syndrome|10q22.3q23 microdeletion syndrome|monosomy 10q22.3q23.3|juvenile polyposis of infancy|juvenile polyposis, infantile|chromosome 10q22.3-q23.2 deletion syndrome											UMLS:CN202618|MESH:C567385|OMIM:612242|ICD10:Q93.5|GARD:0013018|Orphanet:276413|UMLS:C2677102|DOID:0060389																		owl:Class
MONDO:0014578	biolink:NamedThing	congenital myasthenic syndrome 17	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.	mondoexuq1wtf	congenital myasthenic syndrome type 17|LRP4 congenital myasthenic syndrome|myasthenic syndrome, congenital, type 17|myasthenic syndrome, congenital, 17|CMS17|congenital myasthenic syndrome caused by mutation in LRP4											DOID:0110674|UMLS:C4225377|OMIM:616304																		owl:Class
MONDO:0015303	biolink:NamedThing	macular amyloidosis	Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.	mondoexuq1wtf												UMLS:C0544839|ICD10:E85.4+|ICD10:L99.0*|Orphanet:137814																		owl:Class
MONDO:0032891	biolink:NamedThing	aneurysm, intracranial berry, 12		mondoexuq1wtf	ANEURYSM, INTRACRANIAL BERRY, 12|ANIB12											OMIM:618734																		owl:Class
MONDO:0017770	biolink:NamedThing	Robinow-like syndrome	Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.	mondoexuq1wtf	Saal-Greenstein syndrome											ICD10:Q87.1|UMLS:C4302956|Orphanet:3105|SCTID:721905000|UMLS:CN203671																		owl:Class
MONDO:0020643	biolink:NamedThing	autism susceptibility 1		mondoexuq1wtf	AUTS1											OMIM:209850																		owl:Class
MONDO:0000400	biolink:NamedThing	mixed cerebral palsy	A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.	mondoexuq1wtf												NCIT:C97177|UMLS:C0751024|ICD9:343.8|SCTID:702318008|DOID:0050673																		owl:Class
MONDO:0033551	biolink:NamedThing	immunodeficiency 72 with autoinflammation		mondoexuq1wtf	IMD72|IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION											OMIM:618982																		owl:Class
MONDO:0013964	biolink:NamedThing	Diamond-Blackfan anemia 11	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.	mondoexuq1wtf	DBA11|Diamond-Blackfan Anemia type 11|Diamond-Blackfan anemia caused by mutation in RPL26|RPL26 Diamond-Blackfan anemia|Diamond-Blackfan anemia 11											OMIM:614900|UMLS:C3554042																		owl:Class
MONDO:0015832	biolink:NamedThing	true unicornuate uterus	True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.	mondoexuq1wtf	complete unilateral Müllerian aplasia|complete unilateral aplasia of the Mullerian ducts|complete unilateral Mullerian aplasia|complete unilateral aplasia of the Müllerian ducts|unicornuate uterus without rudimentary horn											Orphanet:180074|ICD10:Q51.4																		owl:Class
MONDO:0021104	biolink:NamedThing	alcoholic fatty liver disease	Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.	mondoexuq1wtf	alcoholic Steatohepatitis|alcoholic fatty liver											UMLS:C0015696|MESH:D005235|UMLS:C2718067|COHD:193256|ICD9:571.0|SCTID:50325005																		owl:Class
MONDO:0037250	biolink:NamedThing	childhood testicular neoplasm	A neoplasm that arises from the testis during childhood.	mondoexuq1wtf	pediatric neoplasm of testis|pediatric testicular neoplasm|childhood neoplasm of testis|testicular tumor, childhood|neoplasm of testis of childhood|pediatric neoplasm of the testis|childhood neoplasm of the testis|childhood testicular neoplasm											NCIT:C5053																		owl:Class
MONDO:0023569	biolink:NamedThing	Kozlowski Ouvrier syndrome		mondoexuq1wtf	agenesis of the corpus callosum with mental retardation and osseous lesions|agenesis of the corpus callosum with intellectual disability and osseous lesions											GARD:0003139|UMLS:C2931512|MESH:C537508														https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome				owl:Class
MONDO:0017514	biolink:NamedThing	split foot, bilateral		mondoexuq1wtf												ICD10:Q72.73|Orphanet:295126|ICD10:Q72.7																		owl:Class
MONDO:0100401	biolink:NamedThing	acute myeloid leukemia, del(5q31-q32)	Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)	mondoexuq1wtf	AML, del(5)(q31q32)|AML, del(5)(q31-q32)|AML, del(5q31-q32)|AML, 5q31-32 Deletion																													owl:Class
MONDO:0002541	biolink:NamedThing	spinal cord oligodendroglioma	A oligodendroglioma that involves the spinal cord.	mondoexuq1wtf	well differentiated spinal cord oligodendroglioma|spinal cord oligodendroglioma|oligodendroglioma of spinal cord|well differentiated spinal cord oligodendroglial tumor											DOID:3184|SCTID:254950006|NCIT:C4535|UMLS:C0346295																		owl:Class
MONDO:0007144	biolink:NamedThing	aortic arch interruption, facial palsy, and retinal coloboma		mondoexuq1wtf	aortic arch interruption, facial palsy, and retinal coloboma											UMLS:C1862681|OMIM:107550|MESH:C566271																		owl:Class
MONDO:0019880	biolink:NamedThing	distal trisomy 5q	Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	mondoexuq1wtf	trisomy 5qter|telomeric duplication 5q|distal duplication 5q|distal trisomy type 5q											Orphanet:96097|ICD10:Q92.3|SCTID:763274002																		owl:Class
MONDO:0007682	biolink:NamedThing	granddad syndrome		mondoexuq1wtf	granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance											MESH:C564211|OMIM:138920|UMLS:C1841836																		owl:Class
MONDO:0100053	biolink:NamedThing	anaphylaxis	An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.	mondoexuq1wtf	anaphylactic shock|systemic anaphylaxis				2018-08-15 17:39:34+00:00							NCIT:C107101																		owl:Class
MONDO:0020785	biolink:NamedThing	capillary malformation-arteriovenous malformation 2		mondoexuq1wtf	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2|CMAVM2											OMIM:618196																		owl:Class
MONDO:0008585	biolink:NamedThing	HELLP syndrome	HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems.	mondoexuq1wtf	toxemia of pregnancy|pee|PREECLAMPSIA/eclampsia 1|hemolysis, elevated liver enzymes, and Low Platelet count|Preg1|hemolysis, elevated liver enzymes, lowered platelets|hemolysis-elevated liver enzymes-low platelets syndrome|hypertension, pregnancy-induced|hemolysis-elevated liver enzymes-Low Platelet count syndrome|PEE1|hemolysis, elevated liver enzymes, low platelets in pregnancy											DOID:13133|MESH:D017359|GARD:0008528|EFO:0007297|NCIT:C84750|Orphanet:244242|MedDRA:10049058|UMLS:C0162739|ICD10:O14.2|OMIM:189800														https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome				owl:Class
MONDO:0001205	biolink:NamedThing	hypersecretion glaucoma		mondoexuq1wtf												ICD9:365.81|SCTID:29369005|DOID:11148|UMLS:C0154968|ICD10:H40.82																		owl:Class
MONDO:0005859	biolink:NamedThing	mucocutaneous leishmaniasis	The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.	mondoexuq1wtf	mucocutaneous leishmaniasis, (American)|American cutaneous leishmaniasis|cutaneous leishmaniasis, American|New World cutaneous leishmaniasis|mucocutaneous leishmaniasis, American|American mucocutaneous leishmaniasis											MESH:D007897|DOID:9155|UMLS:C3495436|UMLS:C1328252|ICD10:B55.2|ICD9:085.5|EFO:0007379|NCIT:C34769																		owl:Class
MONDO:0016861	biolink:NamedThing	Alagille syndrome due to 20p12 microdeletion		mondoexuq1wtf	Arteriohepatic dysplasia due to monosomy 20p12|Alagille-Watson syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12											Orphanet:261600|UMLS:CN202205|ICD10:Q44.7																		owl:Class
MONDO:0011630	biolink:NamedThing	retinitis pigmentosa 28	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.	mondoexuq1wtf	retinitis pigmentosa 28|RP 28|RP28|FAM161A retinitis pigmentosa|retinitis pigmentosa type 28|retinitis pigmentosa caused by mutation in FAM161A											UMLS:C1419614|OMIM:606068|ICD10:H35.5|DOID:0110365|GARD:0010394														https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28				owl:Class
MONDO:0013668	biolink:NamedThing	tetrasomy 18p	Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.	mondoexuq1wtf	tetrasomy type 18p|chromosome 18p tetrasomy|Isochromosome 18p|tetrasomy chromosome 18p|Isochromosome 18P syndrome|tetrasomy 18p|tetrasomy type 18P											ICD9:758.89|ICD10:Q99.8|Orphanet:3307|UMLS:C0795868|GARD:0000035|MESH:C538306|OMIM:614290|SCTID:698849002																		owl:Class
MONDO:0008750	biolink:NamedThing	microcephaly-albinism-digital anomalies syndrome	Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	mondoexuq1wtf	albinism-microcephaly-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|albinism-microcephaly digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome											GARD:0003604|SCTID:719377004|ICD10:Q87.8|OMIM:203340|MESH:C537322|Orphanet:2513|UMLS:C1859910														https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome				owl:Class
MONDO:0004648	biolink:NamedThing	vascular dementia	A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.	mondoexuq1wtf	vascular dementia|multi infarct dementia|multifocal dementia											DOID:8725|ICD10:F01|ICD10:F01.5|NCIT:C34525|UMLS:C0011269|EFO:0004718|ICD9:290.4|MESH:D015140|SCTID:429998004																		owl:Class
MONDO:0020751	biolink:NamedThing	orthostatic hypotension 2		mondoexuq1wtf												OMIM:618182																		owl:Class
MONDO:0002976	biolink:NamedThing	stomach diverticulosis	A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.	mondoexuq1wtf												UMLS:C1148546|DOID:4370|MESH:D045724																		owl:Class
MONDO:0011869	biolink:NamedThing	epidermolysis bullosa simplex superficialis	Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.	mondoexuq1wtf	epidermolysis bullosa simplex superficialis|EBSS											ICD10:Q81.0|Orphanet:89839|MESH:C564368|OMIM:607600|UMLS:C1843477																		owl:Class
MONDO:0004762	biolink:NamedThing	Taylor syndrome		mondoexuq1wtf	pelvic congestion syndrome|Taylor's syndrome|congestion-fibrosis syndrome											ICD9:625.5|COHD:201347|DOID:9346|SCTID:39402007|UMLS:C0152078																		owl:Class
MONDO:0017788	biolink:NamedThing	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome		mondoexuq1wtf	Dinno syndrome											Orphanet:314002|UMLS:CN203738																		owl:Class
MONDO:0007502	biolink:NamedThing	ear pits, posterior helical		mondoexuq1wtf	posterior helical Ear pits|ear pits, posterior helical|earlobe Indentations, posterior											OMIM:128710																		owl:Class
MONDO:0500000	biolink:NamedThing	episodic angioedema with eosinophilia	A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.	mondoexuq1wtf	EAE|Gleich's syndrome|Gleich syndrome							Emily Hartley				GARD:0013029																		owl:Class
MONDO:0006606	biolink:NamedThing	scleredema adultorum	A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.	mondoexuq1wtf	Scleredemas|Buschke's scleredema|scleredema adultorum|Buschke scleredema adultorum|scleredema adultorum of Buschke|Buschkes scleredema|Buschke scleredema Diabeticorum|scleredema Diabeticorums|Diabeticorums, scleredema|scleredema, Buschke's|scleredema Diabeticorum|scleredema Diabeticorum of Buschke|Buschke scleredema|scleredema|Diabeticorum, scleredema											UMLS:C0036413|DOID:3140|MESH:D012592|EFO:1000762|NCIT:C85057																		owl:Class
MONDO:0022414	biolink:NamedThing	allain-babin-demarquez syndrome		mondoexuq1wtf	craniosynostosis synostoses hypertensive nephropathy|acro cephalo synostosis											GARD:0000124|Orphanet:1526														https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome				owl:Class
MONDO:0007553	biolink:NamedThing	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase		mondoexuq1wtf	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase											UMLS:C1851570|MESH:C565049|OMIM:131880																		owl:Class
MONDO:0009037	biolink:NamedThing	craniosynostosis with anomalies of the cranial base and digits		mondoexuq1wtf	craniosynostosis with anomalies of the cranial base and digits											MESH:C565666|UMLS:C1857493|OMIM:218530																		owl:Class
MONDO:0006195	biolink:NamedThing	endometrial polyp	A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.	mondoexuq1wtf	endometrial stromal polyp|polyp, endometrial stromal, benign|endometrium polyp|polyp of the endometrium|endometrial polyp|polyp of endometrium											EFO:1000237|NCIT:C6433																		owl:Class
MONDO:0012347	biolink:NamedThing	hamartoma, Precalcaneal congenital fibrolipomatous		mondoexuq1wtf	Pcfh|hamartoma, Precalcaneal congenital fibrolipomatous											OMIM:609808|MESH:C565226|UMLS:C1853298																		owl:Class
MONDO:0100422	biolink:NamedThing	acute myeloid leukemia, RUNX1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)	mondoexuq1wtf	AML, AML1 Gene Mutation|AML, CBFA2 Gene Mutation|AML, AML1 Mutation|AML, RUNX1 gene mutation|AML, Runt-Related Transcription Factor 1 Gene Mutation|AML, CBFalpha2 Mutation|AML, AMLCR1 Gene Mutation|AML, Acute Myeloid Leukemia 1 Gene Mutation											NCIT:C129786																		owl:Class
MONDO:0014246	biolink:NamedThing	episodic pain syndrome, familial, 2	Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.	mondoexuq1wtf	familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, type 2|FEPS2|SCN10A familial episodic pain syndrome|episodic pain syndrome, familial, 2											OMIM:615551|UMLS:C3809893|DOID:0111730																		owl:Class
MONDO:0032573	biolink:NamedThing	bone marrow failure syndrome 5		mondoexuq1wtf	BMFS5|BONE MARROW FAILURE SYNDROME 5											OMIM:618165																		owl:Class
MONDO:0042911	biolink:NamedThing	Schwartz-Cohen-addad-Lambert syndrome		mondoexuq1wtf	congenital melanocytosis with myelomeningocele and hydrocephalus|Schwartz Cohen-Addad Lambert syndrome											GARD:0000253|MESH:C535835|UMLS:C2931036																		owl:Class
MONDO:0012181	biolink:NamedThing	hereditary spastic paraplegia 27	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 27|SPG27|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|spastic paraplegia 27, autosomal recessive											UMLS:C1836899|MESH:C563807|OMIM:609041|Orphanet:101007|DOID:0110778|ICD10:G11.4																		owl:Class
MONDO:0017488	biolink:NamedThing	ulnar hemimelia, bilateral		mondoexuq1wtf	ulnar longitudinal meromelia, bilateral											ICD10:Q71.5|Orphanet:295073																		owl:Class
MONDO:0019670	biolink:NamedThing	ulnar hemimelia	Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.	mondoexuq1wtf	congenital longitudinal deficiency of the ulna|ulnar longitudinal meromelia|ulnar clubhand											SCTID:21893008|ICD10:Q71.5|Orphanet:93320|ICD9:755.59																		owl:Class
MONDO:0007367	biolink:NamedThing	febrile seizures, familial, 1		mondoexuq1wtf	convulsions, familial febrile, 1|FEB1|febrile seizures, familial, 1|convulsions, familial febrile											UMLS:C1852577|ICD9:780.39|DOID:0111307|OMIM:121210|SCTID:230432008|MESH:C565162																		owl:Class
MONDO:0001717	biolink:NamedThing	posterior corneal pigmentation		mondoexuq1wtf	posterior corneal pigmentations											UMLS:C0155106|ICD9:371.13|SCTID:267639001|ICD10:H18.05|DOID:13448																		owl:Class
MONDO:0009200	biolink:NamedThing	eyebrow duplication-syndactyly syndrome	Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	mondoexuq1wtf	eyebrows duplication of, with stretchable skin and syndactyly|eyebrows, DUPLICATION of, with stretchable skin and syndactyly											Orphanet:3172|OMIM:227210|GARD:0002216|UMLS:C1856896|MESH:C536383																		owl:Class
MONDO:0043141	biolink:NamedThing	microdontia hypodontia short stature		mondoexuq1wtf	microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality											MESH:C537553|UMLS:C2931532|GARD:0003638																		owl:Class
MONDO:0000310	biolink:NamedThing	Alkhurma hemorrhagic fever	A disease caused by infection with Alkhumra hemorrhagic fever virus.	mondoexuq1wtf	Alkhumra hemorrhagic fever virus caused disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus disease or disorder											DOID:0050308																		owl:Class
MONDO:0100382	biolink:NamedThing	acute myeloid leukemia, t(6;9)(p23;q34.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)	mondoexuq1wtf	AML, t(6;9)(p22.3;q34.1)|AML, t(6;9)(p23;q34.1)|AML, t(6;9)(p23;q34)|AML, t(6;9)(p22;q34)											NCIT:C82423																		owl:Class
MONDO:0001439	biolink:NamedThing	episcleritis periodica fugax		mondoexuq1wtf												ICD10:H15.11|DOID:12124|UMLS:C0155351|SCTID:31166000|ICD9:379.01|COHD:441032																		owl:Class
MONDO:0013447	biolink:NamedThing	retinitis pigmentosa 48	Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.	mondoexuq1wtf	RP48|retinitis pigmentosa 48|retinitis pigmentosa type 48|GUCA1B retinitis pigmentosa|retinitis pigmentosa caused by mutation in GUCA1B											DOID:0110382|ICD10:H35.5|OMIM:613827|UMLS:C3151190																		owl:Class
MONDO:0020589	biolink:NamedThing	cardiac germ cell tumor	A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.	mondoexuq1wtf	heart germ cell tumor|cardiac germ cell tumor											NCIT:C147005																		owl:Class
MONDO:0020850	biolink:NamedThing	intellectual disability, autosomal recessive 65		mondoexuq1wtf	intellectual disability, autosomal recessive 65|MRT65|mental retardation, autosomal recessive 65											OMIM:618109																		owl:Class
MONDO:0011044	biolink:NamedThing	ectrodactyly of lower limbs, congenital heart defect, and micrognathia		mondoexuq1wtf	ectrodactyly of lower limbs, congenital heart defect, and micrognathia											OMIM:601348|UMLS:C1832441|MESH:C563344																		owl:Class
MONDO:0011241	biolink:NamedThing	pseudoacromegaly with severe insulin resistance		mondoexuq1wtf	pseudoacromegaly with severe insulin resistance											OMIM:602511|MESH:C566531|UMLS:C1865284																		owl:Class
MONDO:0001682	biolink:NamedThing	diphtheritic peritonitis	A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.	mondoexuq1wtf												UMLS:C0152953|ICD10:A36.89|DOID:13310|SCTID:13596001|ICD9:032.83																		owl:Class
MONDO:0017545	biolink:NamedThing	zygodactyly type 4		mondoexuq1wtf	syndactyly type 1, Castilla type|Zygodactyly, Castilla type|SD1d|SD1, Castilla type|syndactyly type 1d											ICD10:Q70.3|UMLS:CN203277|Orphanet:295193																		owl:Class
MONDO:0017521	biolink:NamedThing	hyperphalangy, unilateral		mondoexuq1wtf	supernumerary phalanges, unilateral|supernumerary phalanx, unilateral|hyperphalangy in digits 2-5											ICD10:Q74.8|Orphanet:295140																		owl:Class
MONDO:0017455	biolink:NamedThing	hyperphalangy	Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	mondoexuq1wtf	supernumerary phalanx|supernumerary phalanges											ICD10:Q74.8|Orphanet:295002|SCTID:763535005																		owl:Class
MONDO:0019434	biolink:NamedThing	systemic-onset juvenile idiopathic arthritis	Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.	mondoexuq1wtf	Still's disease (formerly)|sJIA|Still disease|systemic juvenile idiopathic arthritis|systemic-onset JIA|systemic onset juvenile rheumatoid arthritis|SoJIA|systemic polyarthritis|systemic onset juvenile idiopathic arthritis											SCTID:201796004|Orphanet:85414|NCIT:C119031|GARD:0010966|EFO:1001999|MESH:C565798|ICD10:M08.2														https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis				owl:Class
MONDO:0009333	biolink:NamedThing	mullerian derivatives-lymphangiectasia-polydactyly syndrome	Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.	mondoexuq1wtf	persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly|Urioste syndrome											MESH:C536478|OMIM:235255|UMLS:C1856159|Orphanet:1655|GARD:0005430																		owl:Class
MONDO:0009801	biolink:NamedThing	familial osteodysplasia, Anderson type	Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	osteodysplasia familial Anderson type|osteodysplasia, familial, Anderson type											Orphanet:2769|GARD:0004136|OMIM:259250|UMLS:C1850186|MESH:C564923														https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type				owl:Class
MONDO:0030935	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 2		mondoexuq1wtf	mitochondrial complex 2 deficiency, nuclear type 2|MC2DN2											OMIM:619166																		owl:Class
MONDO:0007020	biolink:NamedThing	Wernicke encephalopathy	An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)	mondoexuq1wtf	Wernicke's disease|Wernicke's encephalopathy											MESH:D014899|ICD10:E51.2|SCTID:21007002|ICD9:265.1|DOID:2384|UMLS:C0043121|EFO:1001241																		owl:Class
MONDO:0012970	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 6	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.	mondoexuq1wtf	microvascular complications of diabetes, susceptibility to, type 6|nephropathy, diabetic, susceptibility to|SOD2 microvascular complications of diabetes, susceptibility|MVCD6|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|microvascular complications of diabetes, susceptibility to, 6											OMIM:612634																		owl:Class
MONDO:0032600	biolink:NamedThing	snijders blok-campeau syndrome		mondoexuq1wtf	SNIJDERS BLOK-CAMPEAU SYNDROME|Intellectual Developmental Disorder With Macrocephaly, Speech Delay, and Dysmorphic Facies|SNIBCPS											OMIM:618205																		owl:Class
MONDO:0007357	biolink:NamedThing	colonic varices without portal hypertension		mondoexuq1wtf	colonic varices without portal hypertension											UMLS:C1852721|OMIM:120440|MESH:C565172																		owl:Class
MONDO:0014882	biolink:NamedThing	hereditary spastic paraplegia 77	Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.	mondoexuq1wtf	spastic paraplegia 77, autosomal recessive|autosomal recessive spastic paraplegia 77|hereditary spastic paraplegia caused by mutation in FARS2|autosomal recessive spastic paraplegia type 77|FARS2 hereditary spastic paraplegia|SPG77|hereditary spastic paraplegia type 77											DOID:0110822|UMLS:C4310750|Orphanet:466722|ICD10:G11.4|OMIM:617046																		owl:Class
MONDO:0006684	biolink:NamedThing	brain edema	Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)	mondoexuq1wtf	wet brain|intracranial swelling											DOID:4724|ICD9:348.5|SCTID:2032001|MedDRA:10006121|EFO:1000845|MESH:D001929																		owl:Class
MONDO:0007387	biolink:NamedThing	Cornelia de Lange syndrome 1	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.	mondoexuq1wtf	Cornelia DE Lange syndrome 1|NIPBL Cornelia de Lange syndrome|De Lange syndrome|Cornelia De Lange syndrome type 1|Cdl|Cornelia de Lange syndrome caused by mutation in NIPBL|typus Degenerativus Amstelodamensis|Brachmann-De Lange syndrome|Cornelia de Lange syndrome 1|CDLS1											DOID:0080505|UMLS:CN029798|OMIM:122470|SCTID:40354009|ICD9:759.89																		owl:Class
MONDO:0043164	biolink:NamedThing	palmer pagon syndrome		mondoexuq1wtf	hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus											MESH:C538107|Orphanet:2184|GARD:0004199|UMLS:C2931734																		owl:Class
MONDO:0011084	biolink:NamedThing	psoriasis 3, susceptibility to		mondoexuq1wtf	psoriasis 3, susceptibility to|PSORS3											OMIM:601454|DOID:0111283																		owl:Class
MONDO:0001291	biolink:NamedThing	brain compression		mondoexuq1wtf												SCTID:46963008|ICD9:348.4|DOID:11457|COHD:377550|UMLS:C0009592|ICD10:G93.5																		owl:Class
MONDO:0022778	biolink:NamedThing	cleft lip palate intellectual disability corneal opacity		mondoexuq1wtf												GARD:0001380														https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity				owl:Class
MONDO:0001288	biolink:NamedThing	endometriosis of rectovaginal septum and vagina	Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.	mondoexuq1wtf	vaginal endometriosis											NCIT:C128064|UMLS:C0156346|ICD10:N80.4|COHD:196739|ICD9:617.4|SCTID:198253003|DOID:11431																		owl:Class
MONDO:0015102	biolink:NamedThing	non-secreting chemodectoma		mondoexuq1wtf	non-functioning chemodectoma|non-secreting chemodectoma											Orphanet:101106																		owl:Class
MONDO:0022205	biolink:NamedThing	pustular psoriasis		mondoexuq1wtf	Pustular psoriasis|pustular psoriasis											SCTID:200973000|MEDGEN:508876|ICD9:696.1|UMLS:C0152081|GARD:0012813																		owl:Class
MONDO:0020313	biolink:NamedThing	unclassified myelodysplastic/myeloproliferative disease		mondoexuq1wtf	unclassified mixed myelodysplastic/myeloproliferatic syndrome											Orphanet:98825|UMLS:CN207134																		owl:Class
MONDO:0015257	biolink:NamedThing	sino-auricular heart block		mondoexuq1wtf												UMLS:CN199152|Orphanet:1260|ICD10:I45.5																		owl:Class
MONDO:0005669	biolink:NamedThing	black piedra	A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.	mondoexuq1wtf												UMLS:C0153249|EFO:0007171|SCTID:33666009|ICD10:B36.3|DOID:12711|ICD9:111.3																		owl:Class
MONDO:0009816	biolink:NamedThing	autosomal recessive osteopetrosis 2	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.	mondoexuq1wtf	autosomal recessive osteopetrosis type 2|osteoclast-poor osteopetrosis|OPTB2|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|osteopetrosis autosomal recessive 2|osteopetrosis, autosomal recessive type 2|osteopetrosis, autosomal recessive 2|TNFSF11 autosomal recessive malignant osteopetrosis|mild autosomal recessive form osteopetrosis|osteopetrosis osteoclast-poor|TNFSF11 autosomal recessive osteopetrosis|autosomal recessive osteopetrosis caused by mutation in TNFSF11|osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form											DOID:0110943|GARD:0004157|OMIM:259710|MESH:C536059														https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2				owl:Class
MONDO:0011840	biolink:NamedThing	dilated cardiomyopathy 1M	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|cardiomyopathy, dilated, type 1M|CSRP3 familial isolated dilated cardiomyopathy|CMD1M|dilated cardiomyopathy type 1M											DOID:0110449|ICD10:I42.0|UMLS:C1843808|OMIM:607482|MESH:C564390																		owl:Class
MONDO:0019025	biolink:NamedThing	extracutaneous mastocytoma	A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003	mondoexuq1wtf	extracutaneous mastocytoma											ICD10:C96.2|ICDO:9740/1|EFO:1000932|DOID:4659|NCIT:C7136|Orphanet:66662|SCTID:63175003|UMLS:C0272202																		owl:Class
MONDO:0008132	biolink:NamedThing	optic atrophy with demyelinating disease of CNS		mondoexuq1wtf	optic atrophy with demyelinating disease of CNS											UMLS:C1833830|OMIM:165200|MESH:C563496|DOID:0111756																		owl:Class
MONDO:0017402	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, biventricular form		mondoexuq1wtf	familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form											UMLS:CN203146|ICD10:I42.8|Orphanet:293899																		owl:Class
MONDO:0015546	biolink:NamedThing	non-distal monosomy 10q	Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	mondoexuq1wtf	non-distal deletion 10q|non-telomeric monosomy 10q|non-distal monosomy type 10q											ICD10:Q93.5|Orphanet:1581																		owl:Class
MONDO:0009012	biolink:NamedThing	multiple pterygium-malignant hyperthermia syndrome	Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	malignant hyperthermia-arthrogryposis-torticollis syndrome|froster-Iskenius-Waterson-Hall syndrome|malignant hyperthermia - arthrogryposis - torticollis|malignant hyperthermia arthrogryposis torticollis|contractures, congenital, torticollis, and malignant hyperthermia|froster-Iskenius-Waterson syndrome											Orphanet:2215|GARD:0003361|OMIM:217150|ICD10:Q87.8|MESH:C565679|UMLS:C1857576														https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis				owl:Class
MONDO:0044647	biolink:NamedThing	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome		mondoexuq1wtf												Orphanet:496686																		owl:Class
MONDO:0014080	biolink:NamedThing	osteosclerotic metaphyseal dysplasia		mondoexuq1wtf	osteosclerotic metaphyseal dysplasia|OSMD											Orphanet:500548|UMLS:C3554665|OMIM:615198																		owl:Class
MONDO:0002613	biolink:NamedThing	histrionic personality disorder	A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.	mondoexuq1wtf	histrionic personality disorder (disease)|histrionic personality disorder		histrionic personality disorder (disease)									COHD:440369|MESH:D006677|SCTID:55341008|NCIT:C92634|DOID:334|ICD9:301.5|ICD9:301.50|ICD10:F60.4|HP:0012077|ICD9:301.59																		owl:Class
MONDO:0004194	biolink:NamedThing	ovarian stromal hyperthecosis	A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.	mondoexuq1wtf												NCIT:C40446|UMLS:C1518743|DOID:7347																		owl:Class
MONDO:0018670	biolink:NamedThing	symptomatic form of fragile X syndrome in female carrier		mondoexuq1wtf												UMLS:CN237736|ICD10:Q99.2|Orphanet:449291																		owl:Class
MONDO:0003680	biolink:NamedThing	periosteal chondrosarcoma	A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.	mondoexuq1wtf	chondrosarcoma (disease) of periosteum|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|juxtacortical chondrosarcoma|periosteum chondrosarcoma (disease)										MONDO:0003683	DOID:5866|NCIT:C7357|DOID:5859|ICDO:9221/3|UMLS:C0334549																		owl:Class
MONDO:0003903	biolink:NamedThing	benign vaginal mixed tumor	A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.	mondoexuq1wtf	benign vaginal mixed tumor|vaginal spindle cell epithelioma											NCIT:C40280|DOID:6505|UMLS:C1511107																		owl:Class
MONDO:0030860	biolink:NamedThing	neuronopathy, distal hereditary motor, type 5C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.	mondoexuq1wtf	DHMN5C|HMN5C|neuropathy, distal hereditary motor, type VC|spinal muscular atrophy, distal, type 5C											OMIM:619112																		owl:Class
MONDO:0042912	biolink:NamedThing	Schlegelberger-Grote syndrome		mondoexuq1wtf	syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|triphalangeal thumbs thrombocytopathy deafness|Schlegelberger Grote syndrome											UMLS:C2931273|GARD:0000255|MESH:C536635																		owl:Class
MONDO:0022576	biolink:NamedThing	bilirubin induced brain injury in the newborn		mondoexuq1wtf												GARD:0009243														https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn				owl:Class
MONDO:0007612	biolink:NamedThing	gingival fibromatosis-progressive deafness syndrome	Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	mondoexuq1wtf	gingival fibromatosis with sensorineural hearing loss|fibromatosis, gingival, with progressive deafness|GFD|Jones syndrome|gingival fibromatosis with progressive deafness|familial gingival fibromatosis associated with progressive deafness											UMLS:C1851112|GARD:0003056|Orphanet:2027|OMIM:135550|MESH:C535886|SCTID:722449007|ICD10:H90.3																		owl:Class
MONDO:0100008	biolink:NamedThing	food protein-induced enterocolitis syndrome	An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.	mondoexuq1wtf	delayed food allergy|FPIES				2018-06-22 21:10:26+00:00																									owl:Class
MONDO:0009463	biolink:NamedThing	internal carotid arteries, hypoplasia of		mondoexuq1wtf	internal carotid arteries, hypoplasia of											OMIM:243100																		owl:Class
MONDO:0014123	biolink:NamedThing	primary ciliary dyskinesia 21	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.	mondoexuq1wtf	primary ciliary dyskinesia 21 without situs inversus|ciliary dyskinesia, primary, 21|ciliary dyskinesia, primary, type 21|DRC1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 21, without situs inversus|primary ciliary dyskinesia type 21|CILD21|primary ciliary dyskinesia caused by mutation in DRC1											UMLS:C3809087|DOID:0110596|ICD10:Q34.8|OMIM:615294																		owl:Class
MONDO:0012503	biolink:NamedThing	thiopurine S-methyltransferase deficiency	An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.	mondoexuq1wtf	inborn thiopurine S-methyltransferase activity disorder|rare inborn error of thiopurine S-methyltransferase activity|Thiopurines, poor metabolism of, 1|THPM1|TPMT deficiency|inborn error of thiopurine S-methyltransferase activity|6-mercaptopurine sensitivity|thiopurines, poor metabolism of, 1|poor metabolism of thiopurines-1|thiopurine S-methyltransferase deficiency|thiopurine methyltransferase deficiency|Thiopurines, poor metabolism of|thiopurine S methyltranferase deficiency											NCIT:C4389|GARD:0005173|DOID:0080172|MESH:C536512|SCTID:238012003|Orphanet:3315|OMIM:610460																		owl:Class
MONDO:0060714	biolink:NamedThing	tumoral calcinosis, hyperphosphatemic, familial, 2		mondoexuq1wtf	HFTC2|tumoral calcinosis, hyperphosphatemic, familial, 2											OMIM:617993																		owl:Class
MONDO:0023170	biolink:NamedThing	focal or multifocal malformations in neuronal migration		mondoexuq1wtf												GARD:0002350														https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration				owl:Class
MONDO:0021503	biolink:NamedThing	benign neoplasm of gallbladder	A benign neoplasm that involves the gall bladder.	mondoexuq1wtf	benign gallbladder neoplasm|gall bladder benign neoplasm|benign tumor of the gallbladder|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of gallbladder|gallbladder benign neoplasm|gallbladder benign tumor											UMLS:C0345912|SCTID:92117002|DOID:0080640|NCIT:C4440																		owl:Class
MONDO:0022884	biolink:NamedThing	craniofacial dysostosis arthrogryposis progeroid appearence		mondoexuq1wtf	Van Biervliet Hendrickx Van Ertbruggen syndrome											GARD:0001573														https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence				owl:Class
MONDO:0004568	biolink:NamedThing	paralytic ileus	An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.	mondoexuq1wtf	paralytic ileus (disease)|paralytic ileus		paralytic ileus (disease)									ICD10:K56.0|COHD:192357|DOID:8442|HP:0002590|UMLS:C0030446|NCIT:C93045|ICD9:560.1|SCTID:55525008																		owl:Class
MONDO:0020438	biolink:NamedThing	atrial septal aneurysm		mondoexuq1wtf												Orphanet:99107|ICD10:Q21.1|SCTID:95440004|UMLS:C0521533																		owl:Class
MONDO:0002999	biolink:NamedThing	central nervous system germinoma	A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)	mondoexuq1wtf	central nervous system germinoma (disease)|germinoma of central nervous system|intracranial germinoma|germinoma of CNS|germinoma of the CNS|central nervous system germinoma|germinoma of the central nervous system											NCIT:C7009|DOID:4438																		owl:Class
MONDO:0007017	biolink:NamedThing	vitreous detachment	Detachment of the vitreous humor from the retina.	mondoexuq1wtf	vitreous, detachment Of|detachment Of vitreous											NCIT:C50807|DOID:9726|EFO:1001238|MESH:D020255|MedDRA:10047650|SCTID:53772007|ICD10:H43.81|UMLS:C0042907																		owl:Class
MONDO:0036484	biolink:NamedThing	Charcot-Marie-Tooth disease, dominant intermediate G		mondoexuq1wtf	Charcot-Marie-Tooth disease dominant intermediate G|CMTDIG|Charcot-Marie-Tooth disease, dominant intermediate G											DOID:0080294|OMIM:617882|UMLS:CN847583																		owl:Class
MONDO:0013704	biolink:NamedThing	intellectual disability, autosomal recessive 30		mondoexuq1wtf	intellectual disability, autosomal recessive 30|mental retardation, autosomal recessive 30|MRT30											UMLS:C3280540|OMIM:614342																		owl:Class
MONDO:0012286	biolink:NamedThing	myopathy, autophagic vacuolar, infantile-onset		mondoexuq1wtf	myopathy, autophagic vacuolar, infantile-onset											OMIM:609500																		owl:Class
MONDO:0010908	biolink:NamedThing	loose anagen syndrome	Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.	mondoexuq1wtf	loose anagen hair syndrome											DOID:0111702|ICD9:704.8|Orphanet:168|ICD10:L65.1|UMLS:C0406468|GARD:0003287|OMIM:600628|MESH:D058247|SCTID:238735005																		owl:Class
MONDO:0020475	biolink:NamedThing	dermotrichic syndrome		mondoexuq1wtf						Editor note: See PMID:1456297						Orphanet:99688|UMLS:CN207344																		owl:Class
MONDO:0004636	biolink:NamedThing	lip carcinoma in situ	A in situ carcinoma that involves the lip.	mondoexuq1wtf	stage 0 lip carcinoma|carcinoma in situ of the Lip|lip in situ carcinoma|stage 0 carcinoma of the Lip|stage 0 cancer of Lip|stage 0 carcinoma of Lip|stage 0 cancer of the Lip|carcinoma in situ of lip|stage 0 Lip cancer|stage 0 Lip cancer aJCC v7|stage 0 Lip cancer aJCC v6|stage 0 Lip cancer aJCC v6 and v7											UMLS:C4316815|DOID:8661|SCTID:92643000|NCIT:C4588|ICD9:230.0|UMLS:C0347082|ICD10:D00.0																		owl:Class
MONDO:0008313	biolink:NamedThing	pelvic organ prolapse, susceptibility to		mondoexuq1wtf	vaginal prolapse|prolapse of vagina and rectum|pelvic organ prolapse, susceptibility to|rectal prolapse|pelvic organ prolapse, susceptibility to, 1											OMIM:176780																		owl:Class
MONDO:0008193	biolink:NamedThing	paralysis agitans, juvenile, of Hunt		mondoexuq1wtf	Parkinson disease, juvenile, of Hunt|paralysis agitans, juvenile, of Hunt											MESH:C562469|ICD9:333.0|SCTID:43647007|OMIM:168100|GARD:0010359														https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt				owl:Class
MONDO:0014127	biolink:NamedThing	oculocutaneous albinism type 5	Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.	mondoexuq1wtf	oculocutaneous albinism type V|albinism, oculocutaneous, type V|OCA5											SCTID:722057000|Orphanet:370091|DOID:0070099|ICD10:E70.3|UMLS:CN204842|OMIM:615312																		owl:Class
MONDO:0025598	biolink:NamedThing	pneumonia caused by chlamydia	An pneumonia caused by infection with Chlamydia.	mondoexuq1wtf	Chlamydia caused pneumonia|chlamydial pneumonia|Chlamydia pneumonia|chlamydia pneumonia											SCTID:233609002|UMLS:C0339959|ICD9:483.1|MESH:D061387|ICD10:J16.0|DOID:0040083																		owl:Class
MONDO:0002666	biolink:NamedThing	pancreatic signet ring cell adenocarcinoma	A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.	mondoexuq1wtf	signet Ring cell carcinoma of the pancreas|pancreatic signet ring cell carcinoma|signet Ring cell carcinoma of pancreas|pancreas signet ring cell carcinoma|pancreatic signet Ring cell carcinoma											NCIT:C5720|DOID:3497|UMLS:C1335317																		owl:Class
MONDO:0032663	biolink:NamedThing	developmental and epileptic encephalopathy, 70		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70|epileptic encephalopathy, early infantile, 70|DEE70|EIEE70											OMIM:618298																		owl:Class
MONDO:0010021	biolink:NamedThing	seizures, benign familial neonatal, autosomal recessive		mondoexuq1wtf	epilepsy, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive|seizures, benign familial neonatal, autosomal recessive|autosomal dominant form of benign neonatal seizures|convulsions benign familial neonatal dominant form|convulsions, benign familial neonatal, autosomal recessive											UMLS:C1849250|MESH:C564823|GARD:0001519|OMIM:269720																		owl:Class
MONDO:0100034	biolink:NamedThing	cerebral folate deficiency	Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.	mondoexuq1wtf					2018-06-23 19:01:19+00:00																									owl:Class
MONDO:0019969	biolink:NamedThing	panner disease	Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.	mondoexuq1wtf	aseptic necrosis of the capital humerus|Osteochondrosis of the capital humerus											ICD10:M92.0|Orphanet:97336|UMLS:CN206896																		owl:Class
MONDO:0016302	biolink:NamedThing	isolated congenitally uncorrected transposition of the great arteries		mondoexuq1wtf	isolated congenitally uncorrected transposition of the great vessels											ICD10:Q20.3|Orphanet:216718																		owl:Class
MONDO:0020761	biolink:NamedThing	Bowen disease of the skin	A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.	mondoexuq1wtf	Bowen's disease of the skin|Bowen disease of the skin|Disease, Bowen's|Disease, Bowen|intraepidermal squamous cell carcinoma, Bowen type|Bowen disease|Bowen Disease|Bowens Disease											UMLS:C0006079|NCIT:C62571|MESH:D001913|ICDO:8081/2|GARD:0005948																		owl:Class
MONDO:0026730	biolink:NamedThing	Basilicata-Akhtar syndrome		mondoexuq1wtf	BASILICATA-AKHTAR SYNDROME|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type|Mental Retardation, X-Linked, Syndromic 36|MRXSBA											OMIM:301032																		owl:Class
MONDO:0023246	biolink:NamedThing	linear porokeratosis	Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.	mondoexuq1wtf	Linear Porokeratosis|Porokeratosis, Linear|Congenital facial linear porokeratosis (type)|Linear porokeratosis|Zosteriform porokeratosis											UMLS:C0302319|SCTID:238631008																		owl:Class
MONDO:0007637	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 1	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	mondoexuq1wtf	FECD1|corneal dystrophy, Fuchs endothelial, type 1|Fuchs' endothelial dystrophy caused by mutation in COL8A2|COL8A2 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, 1|corneal dystrophy, Fuchs endothelial, early-onset											OMIM:136800|MESH:C535478|UMLS:C1850959																		owl:Class
MONDO:0006747	biolink:NamedThing	enterotoxemia	Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.	mondoexuq1wtf												ICD9:799.89|UMLS:C0014371|MESH:D004767|SCTID:370514003|EFO:1000922																		owl:Class
MONDO:0016866	biolink:NamedThing	partial deletion of chromosome 1		mondoexuq1wtf	partial deletion of chromosome type 1|partial monosomy of chromosome 1											ICD10:Q93.5|Orphanet:261766																		owl:Class
MONDO:0004939	biolink:NamedThing	hallucinogen dependence	A drug dependence for a hallucinogenic substance.	mondoexuq1wtf												ICD10:F16.2|DOID:9977|SCTID:38247002|NCIT:C34657|ICD9:304.50|ICD9:304.5																		owl:Class
MONDO:0014651	biolink:NamedThing	acrofacial dysostosis Cincinnati type	Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.	mondoexuq1wtf	AFDCIN|POLR1A acrofacial dysostosis|acrofacial dysostosis, Cincinnati type|acrofacial dysostosis caused by mutation in POLR1A											DOID:0060353|UMLS:C4225317|OMIM:616462																		owl:Class
MONDO:0000446	biolink:NamedThing	midface dysplasia		mondoexuq1wtf												DOID:0050767																		owl:Class
MONDO:0032571	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Krakow type		mondoexuq1wtf	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE|Immunoosseous Dysplasia, Krakow Type|SEMDK											OMIM:618162																		owl:Class
MONDO:0004375	biolink:NamedThing	end stage renal failure	Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.	mondoexuq1wtf	disease (ESRD), end stage renal|end stage kidney disease|ESRD|chronic kidney disease, stage 5|end stage kidney failure|renal disease (ESRD), end stage|renal disease, end stage|ESRD, end stage renal disease|end stage renal disease|end stage renal disease (ESRD)											COHD:193782|ICD9:585.6|DOID:783|SCTID:46177005|NCIT:C9439																		owl:Class
MONDO:0002634	biolink:NamedThing	liposarcoma of bone	A very rare malignant adipose tissue neoplasm that arises from the bone.	mondoexuq1wtf	liposarcoma of the bone|liposarcoma of bone|liposarcoma of bone tissue|bone liposarcoma|bone tissue liposarcoma											UMLS:C1332581|DOID:3381|NCIT:C7598																		owl:Class
MONDO:0016858	biolink:NamedThing	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.	mondoexuq1wtf	blepharophimosis types 1 and 2 due to a point mutation											ICD10:Q10.3|UMLS:CN202201|Orphanet:261572																		owl:Class
MONDO:0010422	biolink:NamedThing	Alzheimer disease 16	An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.	mondoexuq1wtf	Alzheimer's disease 16|Alzheimer disease 16|AD16|Alzheimer's disease type 16											OMIM:300756|MESH:C567463|UMLS:C2677888|DOID:0110036																		owl:Class
MONDO:0017476	biolink:NamedThing	upper limb hypertrophy		mondoexuq1wtf												ICD10:Q74.0|Orphanet:295049																		owl:Class
MONDO:0017126	biolink:NamedThing	oculo-skeletal-renal syndrome		mondoexuq1wtf	oculo skeletal renal syndrome											GARD:0004028|Orphanet:2716|UMLS:CN202523														https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome				owl:Class
MONDO:0032942	biolink:NamedThing	neurodevelopmental disorder with microcephaly and dysmorphic facies		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES|NEDMIDF											OMIM:618828																		owl:Class
MONDO:0010688	biolink:NamedThing	hereditary sensory neuropathy X-linked	A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.	mondoexuq1wtf	neuropathy, hereditary sensory, X-linked											OMIM:310470|MESH:C564090|UMLS:C1839602|DOID:0070159																		owl:Class
MONDO:0014697	biolink:NamedThing	immunodeficiency, common variable, 12	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.	mondoexuq1wtf	immunodeficiency, common variable, 12|common variable immunodeficiency caused by mutation in NFKB1|CVID12|NFKB1 common variable immunodeficiency|NFKB1 deficiency|immunodeficiency, common variable, type 12											OMIM:616576|UMLS:C4225277																		owl:Class
MONDO:0005811	biolink:NamedThing	infectious myxomatosis	A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties.	mondoexuq1wtf												EFO:0007327|UMLS:C0027152|MESH:D009234																		owl:Class
MONDO:0001861	biolink:NamedThing	malignant parietal pleura tumor		mondoexuq1wtf	primary malignant neoplasm of parietal pleura											SCTID:93948004|DOID:14032|UMLS:C0153495																		owl:Class
MONDO:0011133	biolink:NamedThing	deaf blind hypopigmentation syndrome, Yemenite type	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	mondoexuq1wtf	Warburg-Thomsen syndrome|Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Warburg Thomsen syndrome|Yemenite deaf-blind hypopigmentation syndrome											OMIM:601706|SCTID:721084001|Orphanet:3214|UMLS:C1866425|MESH:C536771|GARD:0005535																		owl:Class
MONDO:0012813	biolink:NamedThing	retinitis pigmentosa 29	A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.	mondoexuq1wtf	retinitis pigmentosa 29|RP 29|retinitis pigmentosa type 29|RP29											OMIM:612165|GARD:0010378|ICD10:H35.5|UMLS:C2677325|MESH:C567403|DOID:0110378														https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29				owl:Class
MONDO:0019726	biolink:NamedThing	type II mixed cryoglobulinemia	Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).	mondoexuq1wtf	MC type II											Orphanet:93554|ICD10:D89.1|UMLS:CN206633																		owl:Class
MONDO:0011777	biolink:NamedThing	Alzheimer disease 8	An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.	mondoexuq1wtf	AD8|Alzheimer's disease 8|Ad8|Alzheimer's disease type 8|Alzheimer disease type 8|Alzheimer disease 8|Alzheimer disease, familial 8|Alzheimer disease, familial, 8											MESH:C564622|DOID:0110041|UMLS:C1846735|OMIM:607116|ICD10:G30																		owl:Class
MONDO:0003370	biolink:NamedThing	retroperitoneal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	retroperitoneal space leiomyosarcoma|leiomyosarcoma of retroperitoneal space|retroperitoneal leiomyosarcoma											NCIT:C27904|DOID:5284|UMLS:C2187547																		owl:Class
MONDO:0009209	biolink:NamedThing	autosomal recessive faciodigitogenital syndrome	Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	mondoexuq1wtf	faciodigitogenital syndrome, autosomal recessive|Kuwait type faciodigitogenital syndrome|facio-digito-genital syndrome, Kuwait type|Teebi-Naguib-Alawadi syndrome|Aarskog-like syndrome											Orphanet:1974|ICD10:Q87.8|OMIM:227330																		owl:Class
MONDO:0013296	biolink:NamedThing	myeloid neoplasm associated with FGFR1 rearrangement	Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.	mondoexuq1wtf	chromosome 8p11 myeloproliferative syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid/lymphoid neoplasms with FGFR1 rearrangement|8p11 myeloproliferative syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|stem cell leukemia/lymphoma|8p11 stem cell syndrome|8p11 stem cell leukemia/lymphoma syndrome											OMIM:613523|UMLS:C3150773|NCIT:C84277|ICDO:9967/3|ICD10:D47.1|UMLS:C2827362|ONCOTREE:MLNFGFR1|Orphanet:168953																		owl:Class
MONDO:0011900	biolink:NamedThing	porokeratosis 4, disseminated superficial actinic type		mondoexuq1wtf	porokeratosis, disseminated superficial actinic, 2|porokeratosis 4, disseminated superficial actinic type|POROK4											OMIM:607728|UMLS:C1843180																		owl:Class
MONDO:0014230	biolink:NamedThing	candidiasis, familial, 8	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	mondoexuq1wtf	chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|candidiasis, familial, type 8|candidiasis, familial, 8|TRAF3IP2 chronic mucocutaneous candidiasis (disease)|candidiasis, familial chronic mucocutaneous, autosomal recessive|CANDF8											OMIM:615527|UMLS:C3714992																		owl:Class
MONDO:0009922	biolink:NamedThing	Pseudouridinuria and mental defect		mondoexuq1wtf	Pseudouridinuria and mental defect											OMIM:264500|MESH:C564864|UMLS:C1849648																		owl:Class
MONDO:0010444	biolink:NamedThing	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia		mondoexuq1wtf	XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities											OMIM:300835|ICD10:D64.4|Orphanet:363727																		owl:Class
MONDO:0010757	biolink:NamedThing	widow's peak syndrome		mondoexuq1wtf	widow's peak syndrome|widow's peak, ptosis, and skeletal anomalies											OMIM:314570|MESH:C564040|UMLS:C1839112																		owl:Class
MONDO:0020320	biolink:NamedThing	acute myeloblastic leukemia with maturation	An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)	mondoexuq1wtf	acute myeloblastic leukemia M2|FAB M2|acute M2 myeloid leukemia|acute myeloblastic leukemia type 2|acute myelogenous leukemia with maturation|M2 acute myelogenous leukemia with maturation|AML M2|M2 acute granulocytic leukemia|M2 acute myeloid leukemia|AML with maturation|LAM M2|M2 acute myelogenous leukemia|AM|M2 acute myeloblastic leukemia|M2 acute myeloblastic leukemia with maturation|acute myelocytic leukemia with maturation|acute myeloid leukemia (AML-M2)|M2 acute myeloid leukemia with maturation|acute myeloid leukemia with maturation|M2 acute myelocytic leukemia with maturation											ICDO:9874/3|ICD10:C92.0|ONCOTREE:AM|EFO:0003028|Orphanet:98834|NCIT:C3250|GARD:0000527														https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation				owl:Class
MONDO:0014669	biolink:NamedThing	cone-rod dystrophy 21	Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.	mondoexuq1wtf	DRAM2 cone-rod dystrophy|CORD21|cone-rod dystrophy type 21|retinal dystrophy with early macular involvement|cone-rod dystrophy 21|cone-rod dystrophy caused by mutation in DRAM2											OMIM:616502|UMLS:CN231743|UMLS:C4049066																		owl:Class
MONDO:0012810	biolink:NamedThing	aneurysm, intracranial berry, 7		mondoexuq1wtf	ANIB7|aneurysm, intracranial BERRY, 7											UMLS:C2677337|OMIM:612161|MESH:C567406																		owl:Class
MONDO:0004742	biolink:NamedThing	primary cerebellar degeneration	A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.	mondoexuq1wtf												COHD:436391|UMLS:C0033132|DOID:9277|SCTID:23732000|ICD9:334.2																		owl:Class
CL:0002319	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017081	biolink:NamedThing	parietal encephalocele		mondoexuq1wtf												ICD10:Q01.8|SCTID:253109005|Orphanet:268826																		owl:Class
MONDO:0014390	biolink:NamedThing	hypotrichosis 13	Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.	mondoexuq1wtf	hypotrichosis 13|hypt13|hypotrichosis caused by mutation in KRT71|KRT71 hypotrichosis|hypotrichosis with woolly hair|hypotrichosis type 13|HYPT13											OMIM:615896|UMLS:C4014616|DOID:0110710																		owl:Class
MONDO:0007790	biolink:NamedThing	Charcot-Marie-Tooth disease type 3		mondoexuq1wtf	Dejerine-Sottas syndrome|Dejerine-Sottas neuropathy|hereditary motor and sensory neuropathy type III|hereditary motor and sensory neuropathy 3|HMSN 3|Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth disease, type 3|DSN|hereditary motor and sensory neuropathy type 3|hypertrophic neuropathy of infancy|CMT3|HMSN3|HMSN III|hypertrophic neuropathy of Dejerine-Sottas					Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit						NCIT:C133087|ICD10:G60.0|UMLS:C0011195|GARD:0009204|DOID:0050540|OMIM:145900|Orphanet:64748|SCTID:111499002																		owl:Class
MONDO:0007726	biolink:NamedThing	hip dysplasia, Beukes type	Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	mondoexuq1wtf	osteoarthropathy, premature degenerative, of hip|hip dysplasia Beukes type|Cilliers-Beighton syndrome|BFHD|Beukes hip dysplasia|BHD|Beukes familial hip dysplasia|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip											OMIM:142669|ICD10:Q65.8|DOID:0111367|MESH:C564185|GARD:0002690|SCTID:721148005|Orphanet:2114																		owl:Class
MONDO:0013174	biolink:NamedThing	primary ciliary dyskinesia 13	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 13, with or without situs inversus|DNAAF1 primary ciliary dyskinesia|primary ciliary dyskinesia type 13|ciliary dyskinesia, primary, type 13|ciliary dyskinesia, primary, 13|CILD13|primary ciliary dyskinesia caused by mutation in DNAAF1|primary ciliary dyskinesia 13 with or without situs inversus											MESH:C567713|ICD10:Q34.8|UMLS:C2750790|OMIM:613193|DOID:0110618																		owl:Class
MONDO:0001565	biolink:NamedThing	abnormal retinal correspondence		mondoexuq1wtf												ICD10:H53.31|UMLS:C0155010|ICD9:368.34|SCTID:79195003|DOID:12668																		owl:Class
MONDO:0012569	biolink:NamedThing	mitral valve prolapse, myxomatous 3		mondoexuq1wtf	MMVP3|mitral valve prolapse 3|mitral valve prolapse, myxomatous 3|MVP3|myxomatous mitral valve prolapse 3											MESH:C563655|OMIM:610840|UMLS:C1835814																		owl:Class
MONDO:0003716	biolink:NamedThing	renal pelvis papillary urothelial carcinoma	A papillary transitional cell carcinoma that arises from the renal pelvis.	mondoexuq1wtf	renal pelvis papillary urothelial carcinoma|papillary carcinoma of the kidney pelvis|papillary carcinoma of renal pelvis|kidney pelvis papillary carcinoma|renal pelvis papillary carcinoma|papillary carcinoma of kidney pelvis|papillary carcinoma of the renal pelvis											UMLS:C1377909|NCIT:C6148|DOID:5973																		owl:Class
MONDO:0009875	biolink:NamedThing	achromatopsia 3	Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.	mondoexuq1wtf	ACHM1 (formerly)|RMCH1 (formerly)|achromatopsia 3|CNGB3 achromatopsia|total colorblindness with myopia|achromatopsia type 3|rod monochromacy 1|ACHM1, formerly|rod monochromacy 1, formerly|rod monochromatism 1, formerly|rod monochromatism 1|ACHM3|RMCH1|ACHM1|Rod monochromacy 1 (formerly)|achromatopsia caused by mutation in CNGB3|achromatopsia with myopia|Rod monochromatism 1 (formerly)											GARD:0009650|UMLS:C1849792|DOID:0110008|OMIM:262300																		owl:Class
MONDO:0013682	biolink:NamedThing	vesicoureteral reflux 4		mondoexuq1wtf	vesicoureteral reflux 4|VUR4											OMIM:614317|UMLS:C3280439																		owl:Class
MONDO:0014714	biolink:NamedThing	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	mondoexuq1wtf	SCBMS|seizures, cortical blindness, microcephaly syndrome|seizures, cortical blindness, and microcephaly syndrome											UMLS:C4225261|Orphanet:477814|OMIM:616632																		owl:Class
MONDO:0004571	biolink:NamedThing	intestinal impaction		mondoexuq1wtf												SCTID:62851005|ICD9:560.30|DOID:8448|ICD9:560.39|ICD10:K56.4|ICD10:K56.49																		owl:Class
MONDO:0006727	biolink:NamedThing	diastolic heart failure	Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.	mondoexuq1wtf												DOID:9775|UMLS:C1135196|ICD10:I50.3|COHD:443587|SCTID:418304008|MedDRA:10069211|ICD10:I50.30|ICD9:428.3|EFO:1000899|MESH:D054144|ICD9:428.30																		owl:Class
MONDO:0024487	biolink:NamedThing	nail infection	An infectious process affecting the nail.	mondoexuq1wtf	nail infection											NCIT:C78493|UMLS:C0343026																		owl:Class
MONDO:0013272	biolink:NamedThing	chromosome 14q11-q22 deletion syndrome	14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.	mondoexuq1wtf	14q11.2 microdeletion syndrome|monosomy 14q11.2|chromosome 14q11-q22 deletion syndrome|Del(14)(q11.2)											UMLS:C4304999|DOID:0060392|SCTID:719047001|Orphanet:261120|OMIM:613457|ICD10:Q93.5|UMLS:C3150707																		owl:Class
MONDO:0020559	biolink:NamedThing	O'Sullivan-McLeod syndrome	O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	mondoexuq1wtf												UMLS:C2721741|MedDRA:10069682|ICD10:G12.8|Orphanet:99965																		owl:Class
MONDO:0015096	biolink:NamedThing	familial hypofibrinogenemia	Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.	mondoexuq1wtf	hypofibrinogenemia, familial											ICD10:D68.2|GARD:0002887|Orphanet:101041|UMLS:CN197419														https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial				owl:Class
MONDO:0016769	biolink:NamedThing	linear lichen planus	Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.	mondoexuq1wtf	linear LP|Blaschkoid LP|Blaschkoid lichen planus|llp											UMLS:C0023650|GARD:0011898|SCTID:44509000|Orphanet:254379|ICD10:L43.8														https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus				owl:Class
MONDO:0009358	biolink:NamedThing	Hutterite cerebroosteonephrodysplasia syndrome		mondoexuq1wtf	cond|cerebroosteonephosis syndrome|Hutterite cerebroosteonephrodysplasia syndrome											MESH:C536074|GARD:0009956|UMLS:C1856054|OMIM:236450														https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome				owl:Class
MONDO:0100205	biolink:NamedThing	parainfluenza virus type 4 infectious disease	A disease caused by infection with parainfluenza virus type 4.	mondoexuq1wtf	infection due to human parainfluenza virus 4|human rubulavirus 4 infectious disease|infection caused by human parainfluenza virus 4|infection due to parainfluenza virus 4|infection caused by parainfluenza virus 4					Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.		http://orcid.org/0000-0001-5208-3432				OMOP:4288743														https://github.com/monarch-initiative/mondo/issues/2063				owl:Class
MONDO:0016078	biolink:NamedThing	congenital systemic arteriovenous fistula		mondoexuq1wtf												ICD10:Q27.3|Orphanet:2039																		owl:Class
MONDO:0002110	biolink:NamedThing	adrenal rest tumor	A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.	mondoexuq1wtf	adrenal rest neoplasm|adrenal rest tumor											ICDO:8671/0|NCIT:C2860|MESH:D000314|EFO:1000798|DOID:1786|UMLS:C0001630																		owl:Class
MONDO:0007223	biolink:NamedThing	brachydactyly type E1	Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.	mondoexuq1wtf	brachydactyly, type E|brachydactyly, type E1|brachydactyly type E caused by mutation in HOXD13|BDE1|HOXD13 brachydactyly type E											MESH:C566194|DOID:0110972|OMIM:113300																		owl:Class
MONDO:0010309	biolink:NamedThing	intellectual disability, X-linked 42		mondoexuq1wtf	MRX42|intellectual disability, X-linked 42|mental retardation, X-linked 42											OMIM:300372|MESH:C564524|UMLS:C1845810																		owl:Class
MONDO:0011314	biolink:NamedThing	Graves disease, susceptibility to, 2		mondoexuq1wtf	Graves disease, susceptibility to, type 2|Grd2|Graves disease, susceptibility to, 2											OMIM:603388																		owl:Class
MONDO:0008614	biolink:NamedThing	suppressor of tumorigenicity 3		mondoexuq1wtf	ST3|cervical carcinoma, tumor-suppressor Gene involved 1N|tumor-suppressor Gene, Hela cell type|suppressor of tumorigenicity 3											OMIM:191181|UMLS:C1860658																		owl:Class
MONDO:0033007	biolink:NamedThing	Galloway-Mowat syndrome 3		mondoexuq1wtf	GAMOS3|Galloway-Mowat syndrome 3											UMLS:CN570505|DOID:0080245|OMIM:617729																		owl:Class
MONDO:0018104	biolink:NamedThing	Torg-Winchester syndrome		mondoexuq1wtf	Winchester syndrome											ICD10:M89.5|Orphanet:3460																		owl:Class
MONDO:0005104	biolink:NamedThing	aJCC grade 1 sarcoma	Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)	mondoexuq1wtf	aJCC G1 sarcoma|aJCC grade 1 sarcoma|aJCC grade I sarcoma|well differentiated sarcoma											UMLS:C1332066|NCIT:C9419|EFO:0000737																		owl:Class
MONDO:0017936	biolink:NamedThing	benign Samaritan congenital myopathy	Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	mondoexuq1wtf												ICD10:G71.2|Orphanet:324581																		owl:Class
MONDO:0033818	biolink:NamedThing	Terrien marginal degeneration	A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism	mondoexuq1wtf	Terrien's marginal degeneration											Orphanet:519410																		owl:Class
MONDO:0006097	biolink:NamedThing	atypical lipomatous tumor	An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.	mondoexuq1wtf	well differentiated liposarcoma of superficial soft tissue|liposarcoma, well differentiated (morphologic abnormality)|well differentiated liposarcoma|superficial well differentiated liposarcoma|Atypical lipoma|ALT|lipoma-like liposarcoma											ICDO:8850/1|NCIT:C6505|DOID:5690|EFO:1000099																		owl:Class
MONDO:0013488	biolink:NamedThing	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis		mondoexuq1wtf	lipodystrophy, partial, acquired, associated with C3 nephritic Factor|APLDC3|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis											OMIM:613913|UMLS:C3151347																		owl:Class
MONDO:0005929	biolink:NamedThing	postpartum depression	A type of clinical depression that occurs after childbirth.	mondoexuq1wtf	depression, post-Natal|post Natal depression|depression, postnatal|major depressive episode with peripartum onset|depression, post-partum|post partum depression|post-partum depression|post-Natal depression|depressive episode with postpartum onset|postpartum depression|maternity blues|postnatal depression											NCIT:C92852|SCTID:279225001|ICD10:F53|EFO:0007453|MESH:D019052|DOID:9478																		owl:Class
MONDO:0006819	biolink:NamedThing	kernicterus	A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.	mondoexuq1wtf	bilirubin encephalopathy											NCIT:C84799|MedDRA:10023376|MESH:D007647|EFO:1001002|ICD10:P57.9|DOID:2382|ICD10:P57																		owl:Class
MONDO:0008178	biolink:NamedThing	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.	mondoexuq1wtf	muscular dystrophy, limb-girdle, with Paget disease of bone|IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|lower motor neuron degeneration with Paget-like bone disease|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1											OMIM:167320|MESH:C563476|DOID:0111385|NCIT:C122663																		owl:Class
MONDO:0012079	biolink:NamedThing	asperger syndrome, susceptibility to, 2		mondoexuq1wtf	ASPG2|ASPERGER syndrome, susceptibility to, 2											UMLS:C1837697|OMIM:608631																		owl:Class
MONDO:0015197	biolink:NamedThing	aneurysm of sinus of Valsalva	Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.	mondoexuq1wtf	sinus of Valsalva aneurysm|SVA											ICD10:Q25.4|ICD9:747.29|SCTID:54160000|GARD:0000670|UMLS:CN197542|Orphanet:1054														https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva				owl:Class
MONDO:0007821	biolink:NamedThing	immunoglobulin switch sequences		mondoexuq1wtf	immunoglobulin switch sequences|S Sequences|Immunoglobulin-independent switch Sequences											UMLS:C1840234|OMIM:147260																		owl:Class
MONDO:0003957	biolink:NamedThing	adult pineoblastoma	A pineoblastoma occurring in adults.	mondoexuq1wtf	pineoblastoma|adult pineoblastoma|pineoblastoma of adults											UMLS:C0281332|NCIT:C8292|DOID:6648																		owl:Class
MONDO:0017892	biolink:NamedThing	autosomal recessive myogenic arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	mondoexuq1wtf	autosomal recessive myogenic AMC|SYNE1-related arthrogryposis multiplex congenita|SYNE1-related AMC											UMLS:CN203942|ICD10:Q74.3|SCTID:764812008|Orphanet:319332																		owl:Class
MONDO:0010274	biolink:NamedThing	testicular germ cell tumor 1		mondoexuq1wtf	testicular germ cell tumor 1|TGCT1											OMIM:300228|MESH:C564559|UMLS:C1846164																		owl:Class
MONDO:0008516	biolink:NamedThing	syndactyly type 5	Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.	mondoexuq1wtf	syndactyly, type 5|SD5|syndactyly with metacarpal and metatarsal fusion|postaxial syndactyly with metacarpal synostosis|SDTY5|syndactyly with associated metacarpal and metatarsal fusion|syndactyly, type V											Orphanet:93406|OMIM:186300|GARD:0005089|ICD10:Q70.0|ICD10:Q70.2|SCTID:719159004|MESH:C538155														https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5				owl:Class
MONDO:0042433	biolink:NamedThing	mycotic endocarditis	An endocarditis (disease) caused by infection with Fungi.	mondoexuq1wtf	fungal endocarditis|Fungi caused endocarditis (disease)|mycotic endocarditis|Fungi endocarditis (disease)											UMLS:C0276648|SCTID:86348002																		owl:Class
MONDO:0017781	biolink:NamedThing	12p12.1 microdeletion syndrome		mondoexuq1wtf	monosomy 12p12.1|Del(12)(p12.1)											ICD10:Q93.5|UMLS:CN203731|Orphanet:313884																		owl:Class
MONDO:0012012	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate C	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.	mondoexuq1wtf	Charcot-Marie-Tooth disease, dominant intermediate C|Charcot-Marie-Tooth neuropathy dominant intermediate C|YARS Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, dominant Intermediate type C|Charcot-Marie-Tooth neuropathy, dominant Intermediate C|DI-CMTC|Di-Cmtc|Charcot-Marie-Tooth disease caused by mutation in YARS|CMTDIC|Charcot-Marie-Tooth disease dominant intermediate type C											OMIM:608323|Orphanet:100045|SCTID:765746008|ICD10:G60.0|UMLS:C1842237|DOID:0110199|GARD:0012439|MESH:C564257																		owl:Class
MONDO:0015713	biolink:NamedThing	idiopathic central precocious puberty		mondoexuq1wtf												Orphanet:169615|UMLS:C0342544|SCTID:237817008|NCIT:C120372|ICD9:259.1|ICD10:E22.8																		owl:Class
MONDO:0013998	biolink:NamedThing	MEGF8-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.	mondoexuq1wtf	CRPT2|MEGF8 Carpenter syndrome|Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome type 2|Carpenter syndrome 2|CARPENTER syndrome 2											OMIM:614976|UMLS:C3554247																		owl:Class
MONDO:0001614	biolink:NamedThing	intra-abdominal lymph node mast cell malignancy		mondoexuq1wtf	malignant mast cell tumors involving intra-abdominal lymph nodes|mast cell malignancy of intra-abdominal lymph nodes											DOID:13005|ICD9:202.63|SCTID:188664008|UMLS:C0153844																		owl:Class
MONDO:0100383	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)	mondoexuq1wtf	AML, t(11;19)(q23;p13)																													owl:Class
MONDO:0010262	biolink:NamedThing	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses		mondoexuq1wtf	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response											UMLS:C1970936|GARD:0009601|MESH:C537159|OMIM:300184																		owl:Class
MONDO:0020327	biolink:NamedThing	classic Hodgkin lymphoma, nodular sclerosis type		mondoexuq1wtf												ICD10:C81.1|Orphanet:98843																		owl:Class
MONDO:0001498	biolink:NamedThing	varicocele	A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.	mondoexuq1wtf	varicose disease of scrotum|scrotum varicose disease|scrotal varices											ICD9:456.4|ICD10:I86.1|SCTID:46871008|MESH:D014646|COHD:73801|UMLS:C0042341|DOID:12337																		owl:Class
MONDO:0010717	biolink:NamedThing	pyruvate dehydrogenase E1-alpha deficiency	Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.	mondoexuq1wtf	PDH deficiency|pyruvate dehydrogenase Complex deficiency|pyruvate dehydrogenase E1-ALPHA deficiency|PDHAD|pyruvate dehydrogenase E1-alpha deficiency|ataxia, intermittent, with pyruvate dehydrogenase deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|pyruvate decarboxylase deficiency|ataxia, intermittent, with abnormal pyruvate metabolism|lactic acidemia, thiamine-responsive|ataxia with lactic acidosis 1|pyruvate dehydrogenase complex E1 component subunit alpha deficiency											SCTID:124593001|ICD10:E74.4|OMIM:312170|ICD9:277.6|GARD:0004620|Orphanet:79243																		owl:Class
MONDO:0008579	biolink:NamedThing	toes, relative length of first and second		mondoexuq1wtf	toes, relative length of first and second											OMIM:189200																		owl:Class
MONDO:0018322	biolink:NamedThing	HSD10 disease, infantile type	HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.	mondoexuq1wtf	MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type|2-methyl-3-hydroxybutyric aciduria, infantile type|MHBD deficiency, infantile type|HSD10 disease, classic type|HSD10 deficiency, classic type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|2-methyl-3-hydroxybutyric aciduria, classic type											UMLS:CN204974|ICD10:E72.8|Orphanet:391428																		owl:Class
MONDO:0019604	biolink:NamedThing	acquired monoclonal Ig light chain-associated Fanconi syndrome	Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype.	mondoexuq1wtf	acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome|acquired Fanconi syndrome secondary to monoclonal gammopathy											UMLS:C4510369|UMLS:CN206457|ICD10:E72.0|Orphanet:91136|SCTID:724099000																		owl:Class
MONDO:0013257	biolink:NamedThing	leprosy, susceptibility to, 6		mondoexuq1wtf	LPRS6|leprosy, susceptibility to, 6											OMIM:613407																		owl:Class
MONDO:0043191	biolink:NamedThing	radial defect robin sequence		mondoexuq1wtf	bilateral radial defects club foot deformity micrognathia and cleft palate|bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce Winship syndrome|Bruce winship syndrome											UMLS:C2931143|GARD:0004624|MESH:C536261																		owl:Class
MONDO:0009869	biolink:NamedThing	isolated Pierre-Robin syndrome	Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.	mondoexuq1wtf	sequence, Pierre Robin|Pierre-Robin syndrome|Pierre Robin syndrome skeletal dysplasia polydactyly|glossoptosis, micrognathia, and cleft palate|isolated Pierre Robin sequence|Pierre Robins sequence|sequence, Robin|syndrome, Pierre-Robin|Pierre Robin syndrome|Pierre Robin's sequence|isolated Pierre Robin syndrome|Robin sequence|Pierre Robin sequence|Robin syndrome, Pierre|sequence, Pierre Robin's|syndrome, Pierre Robin|PRBNS											SCTID:4602007|GARD:0004354|ICD10:Q87.0|Orphanet:718|MESH:D010855|GARD:0004347|NCIT:C85010|OMIM:261800																		owl:Class
MONDO:0003948	biolink:NamedThing	cerebral hemangioma	A hemangioma arising from the cerebral hemisphere.	mondoexuq1wtf	angioma of cerebral hemispheres|cerebral hemispheric hemangioma|hemangioma of the cerebrum|angioma of the cerebral hemispheres|telencephalon hemangioma|hemangioma of cerebrum|hemangioma of telencephalon|angioma of the cerebrum|hemangioma of cerebral hemispheres|cerebral hemangioma|hemangioma of the cerebral hemispheres|cerebral angioma|angioma of cerebrum|cerebral hemispheric angioma											NCIT:C5433|UMLS:C0877388|DOID:6621																		owl:Class
MONDO:0003428	biolink:NamedThing	brain hemangioma	A hemangioma arising from the brain.	mondoexuq1wtf	brain hemangioma|brain angioma											DOID:5393|NCIT:C7739|UMLS:C0238814																		owl:Class
MONDO:0007104	biolink:NamedThing	amyotrophic lateral sclerosis-parkinsonism-dementia complex		mondoexuq1wtf	Guam disease|ALS-pDC|Parkinsonism-dementia-ALS complex|PDALS|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|Lytigo-Bodig disease|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Lytico-Bodig disease|amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome											OMIM:105500|ICD10:G12.2|Orphanet:90020|GARD:0009239																		owl:Class
MONDO:0013645	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 11	Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.	mondoexuq1wtf	spinocerebellar ataxia, autosomal recessive 11|SCAR11|spinocerebellar ataxia, autosomal recessive type 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 11|autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome											Orphanet:284271|OMIM:614229|DOID:0080063|UMLS:C3280226|ICD10:G11.1																		owl:Class
MONDO:0100115	biolink:NamedThing	acute flaccid myelitis	An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.	mondoexuq1wtf	AFM											NCIT:C128379																		owl:Class
MONDO:0014257	biolink:NamedThing	nephrotic syndrome, type 9	Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.	mondoexuq1wtf	nephrotic syndrome caused by mutation in COQ8B|NPHS9|nephrotic syndrome, type 9|COQ8B nephrotic syndrome											DOID:0080391|OMIM:615573|UMLS:C3809965																		owl:Class
MONDO:0006653	biolink:NamedThing	anthracosilicosis	Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.	mondoexuq1wtf												CSP:2596-4484|MESH:D000874|UMLS:C0003164|EFO:1000813|SCTID:33548005|DOID:10324|NCIT:C34389|MedDRA:10050363|ICD10:J60																		owl:Class
MONDO:0016561	biolink:NamedThing	1q44 microdeletion syndrome	1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	mondoexuq1wtf	Del(1)(q44)|chromosome 1q44 microdeletion syndrome|monosomy 1q44											GARD:0010943|UMLS:C4304540|ICD10:Q93.5|Orphanet:238769|SCTID:719649004|UMLS:CN201644														https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome				owl:Class
MONDO:0010412	biolink:NamedThing	X-linked intellectual disability-craniofacioskeletal syndrome	X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	mondoexuq1wtf	craniofacioskeletal syndrome											Orphanet:163979|UMLS:C2678036|MESH:C567471|OMIM:300712|ICD10:Q87.8																		owl:Class
MONDO:0006347	biolink:NamedThing	pancreatic large cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.	mondoexuq1wtf	pancreatic large cell neuroendocrine carcinoma|pancreatic large cell NEC G3|pancreas large cell neuroendocrine carcinoma|pancreatic large cell NEC|large cell neuroendocrine carcinoma of pancreas											EFO:1000442|UMLS:C2987239|NCIT:C95582																		owl:Class
MONDO:0003666	biolink:NamedThing	fallopian tube endometrioid adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.	mondoexuq1wtf	endometrioid adenocarcinoma of the fallopian tube|fallopian tube endometrioid carcinoma|fallopian tube endometrioid adenocarcinoma|endometrioid adenocarcinoma of fallopian tube|endometrioid carcinoma of fallopian tube|fallopian tube endometrioid neoplasm|fallopian tube endometrioid cancer|endometrioid carcinoma of the fallopian tube											UMLS:C1333592|NCIT:C6279|DOID:5831																		owl:Class
MONDO:0002313	biolink:NamedThing	vernal conjunctivitis	Inflammation of the cornea that is seasonal in nature.	mondoexuq1wtf												SCTID:318316003|DOID:2474|COHD:377559|ICD10:H10.44|NCIT:C34508|UMLS:C0009773|ICD9:372.13																		owl:Class
MONDO:0006518	biolink:NamedThing	sporadic Creutzfeld Jacob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.	mondoexuq1wtf												EFO:1000656																		owl:Class
MONDO:0020464	biolink:NamedThing	euryblepharon	Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.	mondoexuq1wtf												Orphanet:99172|SCTID:400954002|ICD10:Q10.1|UMLS:CN207327																		owl:Class
MONDO:0020355	biolink:NamedThing	coloboma of eye lens		mondoexuq1wtf												Orphanet:98943|ICD10:Q12.2|GARD:0001433														https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens				owl:Class
MONDO:0015879	biolink:NamedThing	non-syndromic diaphragmatic or thoracic malformation		mondoexuq1wtf	isolated diaphragmatic or thoracic malformation|nonsyndromic diaphragmatic or thoracic malformation											Orphanet:180776																		owl:Class
MONDO:0017869	biolink:NamedThing	chondroectodermal dysplasia with night blindness	Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	mondoexuq1wtf												Orphanet:319195|ICD10:Q77.6																		owl:Class
MONDO:0049223	biolink:NamedThing	osteogenesis imperfecta, type 19		mondoexuq1wtf	OI19|osteogenesis imperfecta, type XIX											OMIM:301014|UMLS:CN252653																		owl:Class
MONDO:0001488	biolink:NamedThing	anterior corneal pigmentation		mondoexuq1wtf	anterior corneal pigmentations											ICD10:H18.01|ICD9:371.11|SCTID:18377001|UMLS:C0155104|DOID:12307																		owl:Class
MONDO:0019190	biolink:NamedThing	juvenile polyposis of infancy	Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.	mondoexuq1wtf	juvenile polyposis syndrome of infancy|infantile onset juvenile polyposis syndrome|infantile juvenile polyposis syndrome											ICD10:D12.6|UMLS:CN205768|Orphanet:79076																		owl:Class
MONDO:0010626	biolink:NamedThing	hyper-IgM syndrome type 1	Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.	mondoexuq1wtf	immunodeficiency with hyper-IgM, type 1|HIGM1|X-linked hyper-IgM syndrome|hyper IgM syndrome|immunodeficiency 3|X-linked hyper IgM syndrome|HIGMX-1|hyper IgM syndrome 1|XHIGM|HIGM|hyper-IgM syndrome 1|CD40 ligand deficiency|hyper-IgM immunodeficiency, X-linked|XHIM|immunodeficiency with hyper IgM type 1|hyper IgM immunodeficiency, x-linked|hyper-IgM syndrome due to CD40 ligand deficiency|IHIS|hyper-IgM syndrome, X-linked|hyperimmunoglobulin M syndrome|hyper-IgM syndrome type 1|hyper-IgM syndrome|hyper-IgM syndrome due to CD40L deficiency											DOID:0060022|NCIT:C61244|Orphanet:101088|ICD10:D80.5|DOID:6620|GARD:0000073|SCTID:403835002|Wikidata:Q3508611|OMIM:308230|UMLS:C0398689									This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG.					https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1				owl:Class
MONDO:0008341	biolink:NamedThing	ptosis-strabismus-ectopic pupils syndrome	Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.	mondoexuq1wtf	ptosis strabismus ectopic pupils|ptosis, strabismus, and ectopic pupils|McPherson-Hall syndrome											OMIM:178330|MESH:C566736|Orphanet:2999|UMLS:C1867437|GARD:0004577																		owl:Class
MONDO:0016504	biolink:NamedThing	primary unilateral adrenal hyperplasia	Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.	mondoexuq1wtf	PUAH											UMLS:C4274967|ICD10:E26.0|Orphanet:231580|SCTID:715868005																		owl:Class
MONDO:0002241	biolink:NamedThing	factor XIII deficiency	An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.	mondoexuq1wtf	FXIIID																													owl:Class
MONDO:0002487	biolink:NamedThing	breast granular cell tumor	A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.	mondoexuq1wtf	granular cell tumor of breast|breast granular cell tumor											UMLS:C1511312|DOID:3011|NCIT:C40400																		owl:Class
MONDO:0019509	biolink:NamedThing	cutaneous leukocytoclastic angiitis	Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.	mondoexuq1wtf	hypersensitivity angiitis|cutaneous leukocytoclastic vasculitis|leukocytoclastic angiitis|cutaneous hypersensitivity vasculitis|cutaneous small vessel vasculitis|cutaneous small-vessel vasculitis											Orphanet:889|ICD10:M31.0|SCTID:718217000|GARD:0007851|NCIT:C122919|COHD:196431																		owl:Class
MONDO:0033657	biolink:NamedThing	leukodystrophy, hypomyelinating, 20		mondoexuq1wtf	HLD20											OMIM:619071																		owl:Class
MONDO:0012982	biolink:NamedThing	episodic ataxia type 6	Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	mondoexuq1wtf	SLC1A3 hereditary episodic ataxia|episodic ataxia, type 6|EA6|hereditary episodic ataxia caused by mutation in SLC1A3											ICD10:G11.8|MESH:C567207|OMIM:612656|UMLS:C2675211|SCTID:718753002|DOID:0050994|Orphanet:209967																		owl:Class
MONDO:0021429	biolink:NamedThing	squamous cell carcinoma of floor of mouth	A squamous cell carcinoma that involves the mouth floor.	mondoexuq1wtf	squamous cell carcinoma of the floor of mouth|floor of mouth scc|mouth floor squamous cell carcinoma|scc of the floor of mouth|scc of floor of mouth|floor of mouth squamous cell carcinoma											NCIT:C4041|SCTID:276954004|UMLS:C0280300																		owl:Class
MONDO:0001837	biolink:NamedThing	acute gonococcal salpingitis	Acute form of gonococcal salpingitis.	mondoexuq1wtf	gonococcal salpingitis, acute|gonococcal salpingitis, specified as acute											COHD:200334|ICD9:098.17|DOID:13942|SCTID:45377007|UMLS:C0275654																		owl:Class
MONDO:0018086	biolink:NamedThing	ulerythema ophryogenesis	Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.	mondoexuq1wtf	type of genodermatosis|keratosis pilaris affecting the follicles of the eyebrow hairs											Orphanet:3406|GARD:0005395														https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis				owl:Class
MONDO:0005736	biolink:NamedThing	eastern equine encephalitis	Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.	mondoexuq1wtf	Neuroinvasive Eastern equine encephalitis virus infection|Eastern equine encephalomyelitis|EEE											EFO:0007242|Orphanet:83594|UMLS:C0153065|MESH:D020242|MedDRA:10014587|DOID:10841|GARD:0010821|ICD9:062.2|ICD10:A83.2														https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis				owl:Class
MONDO:0018740	biolink:NamedThing	drug-induced methemoglobinemia	Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).	mondoexuq1wtf	acquired methemoglobinemia|drug induced methemoglobinemia											UMLS:C0271905|Orphanet:464453|NCIT:C101045|SCTID:191390009|ICD10:D74.8																		owl:Class
MONDO:0001276	biolink:NamedThing	expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	mondoexuq1wtf	expressive language disorder|developmental expressive language disorder											SCTID:229733002|NCIT:C92562|DOID:11385|ICD10:F80.1|COHD:4047124|ICD9:315.31																		owl:Class
MONDO:0009937	biolink:NamedThing	pulmonary venoocclusive disease	A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.	mondoexuq1wtf	pulmonary veno-occlusive disease|PVOD|obstructive disease of the pulmonary veins|pulmonary capillary hemangiomatosis											SCTID:89420002|MESH:D011668|DOID:5453|UMLS:C0034091|MedDRA:10037458|NCIT:C85039|OMIMPS:265450|GARD:0010153|Orphanet:31837|ICD9:416.8														https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease				owl:Class
MONDO:0100041	biolink:NamedThing	secondary trimethylaminuria	A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/3448|https://rarediseases.org/rare-diseases/trimethylaminuria/				owl:Class
MONDO:0007952	biolink:NamedThing	maxillofacial dysostosis		mondoexuq1wtf	maxillofacial dysostosis											MESH:C563599|UMLS:C1835088|GARD:0006991|OMIM:155000														https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis				owl:Class
MONDO:0017233	biolink:NamedThing	familial Alzheimer-like prion disease		mondoexuq1wtf												UMLS:C4303482|Orphanet:280397|ICD10:A81.8|SCTID:721219005|UMLS:CN202723																		owl:Class
MONDO:0003862	biolink:NamedThing	melanotic psammomatous malignant peripheral nerve sheath tumor	A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.	mondoexuq1wtf	melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous MPNST											NCIT:C6910|UMLS:C1513101|DOID:6344																		owl:Class
MONDO:0032907	biolink:NamedThing	lymphatic malformation 8		mondoexuq1wtf	LMPHM8|LYMPHATIC MALFORMATION 8											OMIM:618773																		owl:Class
MONDO:0030012	biolink:NamedThing	Diets-Jongmans syndrome		mondoexuq1wtf	diets-jongmans syndrome|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism|DIETS-JONGMANS SYNDROME|DIJOS											OMIM:618846																		owl:Class
MONDO:0021455	biolink:NamedThing	benign neoplasm of neck	A benign neoplasm that involves the neck.	mondoexuq1wtf	benign tumor of the neck|benign neck neoplasm|benign neoplasm of the neck|benign neck tumor|neck benign neoplasm|benign tumor of neck											NCIT:C4884|ICD9:229.8|SCTID:92246000|UMLS:C0684815																		owl:Class
MONDO:0014228	biolink:NamedThing	corneal dystrophy, Fuchs endothelial, 8	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.	mondoexuq1wtf	corneal dystrophy, Fuchs endothelial, type 8|FECD8|corneal dystrophy, Fuchs endothelial, 8|AGBL1 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in AGBL1											OMIM:615523|UMLS:C3809798																		owl:Class
MONDO:0100406	biolink:NamedThing	acute myeloid leukemia, inv(16)(p13.3;q24.3)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)	mondoexuq1wtf	AML, inv(16)(p13.3q24.3)|AML, inv(16)(p13.3;q24.3)|AML, inv(16)(p13;q24)|AML, inv(16)(p13q24)																													owl:Class
MONDO:0011626	biolink:NamedThing	acromegaloid features, overgrowth, cleft palate, and hernia		mondoexuq1wtf	acromegaloid features, overgrowth, cleft palate, and hernia|acromegaloid features, overgrowth, cleft palate and hernia|Aoch											UMLS:C1853757|MESH:C535656|GARD:0010194|OMIM:606049														https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia				owl:Class
MONDO:0007812	biolink:NamedThing	ichthyosis, lamellar, autosomal dominant		mondoexuq1wtf	ichthyosis, lamellar, autosomal dominant|ichthyosis lamellar, autosomal dominant|lamellar ichthyosis, autosomal dominant											SCTID:254164007|OMIM:146750|MESH:C537263|GARD:0009735														https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant				owl:Class
MONDO:0024306	biolink:NamedThing	acquired lactic acidosis	An instance of lactic acidosis that is acquired during the lifetime of the individual.	mondoexuq1wtf	lactic acidosis|acquired lactic acidosis											EFO:1000036|UMLS_CUI:C0001125|DOID:3650|ICD10:E87.2																		owl:Class
MONDO:0005202	biolink:NamedThing	atopic IgE-mediated allergic disorder	A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.	mondoexuq1wtf	atopic state|atopy|Atopic allergy					Editor notes: this is a finding in NCIT						UMLS:C1706410|SCTID:115665000|EFO:0002686|ICD9:995.3																		owl:Class
MONDO:0008821	biolink:NamedThing	arthrogryposis, distal, with intellectual disability and characteristic facies		mondoexuq1wtf	arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies											OMIM:208081|MESH:C565940|UMLS:C1859723																		owl:Class
MONDO:0011965	biolink:NamedThing	familial temporal lobe epilepsy 2	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.	mondoexuq1wtf	familial temporal lobe epilepsy|ETL2|epilepsy, familial temporal lobe|Ftle|familial temporal lobe epilepsy type 2|temporal epilepsy, familial|epilepsy, familial temporal lobe, 2											Orphanet:98819|ICD10:G40.2|GARD:0005135|OMIM:608096|MESH:C536956|DOID:0060755																		owl:Class
MONDO:0018464	biolink:NamedThing	severe phosphoribosylpyrophosphate synthetase superactivity	Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.	mondoexuq1wtf	severe PRPS1 superactivity|severe PRPP synthetase superactivity											ICD10:E79.8|UMLS:CN237444|Orphanet:411543																		owl:Class
MONDO:0015086	biolink:NamedThing	cloverleaf skull-asphyxiating thoracic dysplasia syndrome		mondoexuq1wtf	cloverleaf skull and asphyxiating thoracic dysplasia|Benallegue Lacete syndrome|Benallegue-Lacete syndrome											GARD:0000853|ICD10:Q87.5|Orphanet:100978|UMLS:CN197384														https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome				owl:Class
MONDO:0100325	biolink:NamedThing	odontochondrodysplasia 1	Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.	mondoexuq1wtf	chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|odontochondrodysplasia|Goldblatt syndrome|Goldblatt chondrodysplasia|spondylometaphyseal dysplasia with dentinogenesis imperfecta|ODCD							http://orcid.org/0000-0001-5208-3432				SCTID:717823001|OMIM:184260|Orphanet:166272|UMLS:CN200045|GARD:0008717|ICD10:Q78.8																		owl:Class
MONDO:0012425	biolink:NamedThing	corneal dystrophy, fuchs endothelial, 2		mondoexuq1wtf	corneal dystrophy, Fuchs endothelial, 2|FECD2|corneal dystrophy, Fuchs endothelial, late-onset|Fcd1 locus											UMLS:C1857800|OMIM:610158																		owl:Class
MONDO:0010982	biolink:NamedThing	ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin		mondoexuq1wtf	ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin|ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin											MESH:C563402|OMIM:601039|GARD:0002957|UMLS:C1832858																		owl:Class
MONDO:0011078	biolink:NamedThing	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis		mondoexuq1wtf	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis|Jung Wolff back Stahl syndrome											OMIM:601427|UMLS:C1832362|MESH:C537694|GARD:0003062																		owl:Class
MONDO:0008609	biolink:NamedThing	Tristichiasis		mondoexuq1wtf	Tristichiasis|eyelashes, three rows of											OMIM:190800																		owl:Class
MONDO:0009577	biolink:NamedThing	megalocornea-intellectual disability syndrome	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	mondoexuq1wtf	megalocornea-intellectual disability syndrome|Neuhauser syndrome|NeuhC$user syndrome|megalocornea mental retardation syndrome|megalocornea-mental retardation syndrome|megalocornea intellectual disability syndrome|Neuhäuser syndrome|MMR syndrome											UMLS:C0796086|OMIM:249310|SCTID:733522005|GARD:0003448|MESH:C536143|Orphanet:2479|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome				owl:Class
MONDO:0010282	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, X-linked		mondoexuq1wtf	MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked											OMIM:300259																		owl:Class
MONDO:0009449	biolink:NamedThing	ciliary dyskinesia with defective radial spokes		mondoexuq1wtf	immotile cilia syndrome due to defective radial spokes|immotile cilia syndrome, due to defective radial spokes|ciliary dyskinesia with defective radial spokes|cilia with defective radial spokes											GARD:0002981|SCTID:233664005|MESH:C536286|ICD9:759.89|UMLS:C0340035|OMIM:242670																		owl:Class
MONDO:0030936	biolink:NamedThing	epilepsy, progressive myoclonic, 12		mondoexuq1wtf	EPM12|epilepsy, progressive myoclonic, 12											OMIM:619191																		owl:Class
MONDO:0024386	biolink:NamedThing	large cell lung carcinoma, clear cell variant	A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.	mondoexuq1wtf	clear cell lung carcinoma, large cell type|clear cell carcinoma of the lung, large cell type|large cell lung carcinoma, clear cell variant|clear cell carcinoma of lung, large cell type|clear cell carcinoma of the lung											UMLS:C1707407|ONCOTREE:CCLC|NCIT:C4451																		owl:Class
MONDO:0009403	biolink:NamedThing	hypertelorism and tetralogy of fallot		mondoexuq1wtf	hypertelorism and tetralogy of fallot											GARD:0002848|OMIM:239711|MESH:C538386|UMLS:C1855903														https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot				owl:Class
MONDO:0014318	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 4	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.	mondoexuq1wtf	hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|hyperphosphatasia with intellectual disability syndrome type 4|hyperphosphatasia with mental retardation syndrome 4|hyperphosphatasia with mental retardation syndrome type 4|PGAP3 hyperphosphatasia-intellectual disability syndrome|HPMRS4|hyperphosphatasia with intellectual disability syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10											OMIM:615716|UMLS:C3810354																		owl:Class
MONDO:0004153	biolink:NamedThing	childhood central nervous system embryonal carcinoma	An embryonal carcinoma that arises from the central nervous system and occurs during childhood.	mondoexuq1wtf	embryonal carcinoma of the pediatric central nervous system|pediatric central nervous system embryonal carcinoma|embryonal carcinoma of childhood central nervous system|embryonal carcinoma of the central nervous system of childhood|embryonal carcinoma of the childhood central nervous system|embryonal carcinoma of childhood CNS|embryonal carcinoma of pediatric central nervous system|embryonal carcinoma of the childhood CNS|embryonal carcinoma of pediatric CNS|pediatric embryonal carcinoma of the central nervous system|childhood embryonal carcinoma of the central nervous system|pediatric CNS embryonal cell carcinoma|childhood central nervous system embryonal carcinoma|embryonal carcinoma of the pediatric CNS|childhood CNS embryonal cell carcinoma											DOID:7231|NCIT:C6208|UMLS:C1377605																		owl:Class
MONDO:0005841	biolink:NamedThing	maxillary neoplasm	Cancer or tumors of the maxilla or upper jaw.	mondoexuq1wtf	maxillary cancer|upper jaw bone cancer|bone of upper jaw tumor|neoplasm of bone of upper jaw|bone of upper jaw neoplasm (disease)|maxillary neoplasm|tumor of bone of upper jaw|bone of upper jaw neoplasm											SCTID:126550004|UMLS:C0024954|DOID:4618|MESH:D008441|EFO:0007360																		owl:Class
MONDO:0002003	biolink:NamedThing	papilledema	Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.	mondoexuq1wtf	papilloedema|edema of the optic disc|Choked disk											ICD10:H46.0|ICD9:377.0|ICD9:377.31|ICD9:377.00|SCTID:423341008|NCIT:C3307|ICD10:H47.10|GARD:0007318|ICD10:H47.1|DOID:146														https://rarediseases.info.nih.gov/diseases/7318/papilledema				owl:Class
MONDO:0007323	biolink:NamedThing	Chondronectin		mondoexuq1wtf	Chondronectin											OMIM:118670																		owl:Class
MONDO:0012317	biolink:NamedThing	visceral neuropathy, familial, autosomal dominant		mondoexuq1wtf	pseudoobstruction, chronic intestinal, neuropathic|enteric neuropathy, familial|visceral neuropathy, familial, autosomal dominant|pseudoobstruction, idiopathic intestinal											UMLS:C1864996|OMIM:609629																		owl:Class
MONDO:0006655	biolink:NamedThing	aortic valve prolapse	The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.	mondoexuq1wtf												MESH:D001023|EFO:1000815|MedDRA:10057454|UMLS:C0003505|DOID:5232																		owl:Class
MONDO:0003326	biolink:NamedThing	intermixed schwannian stroma-rich ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.	mondoexuq1wtf	ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)|ganglioneuroblastoma, intermixed											NCIT:C42057|DOID:5194|UMLS:C1517444																		owl:Class
MONDO:0010847	biolink:NamedThing	spinocerebellar ataxia type 4	Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.	mondoexuq1wtf	spinocerebellar ataxia 4|spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|SCA4|spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy											Orphanet:98765|GARD:0009970|SCTID:715755008|DOID:0050957|UMLS:C0752122|ICD10:G11.2|OMIM:600223																		owl:Class
MONDO:0004882	biolink:NamedThing	angioid streaks of choroid	A angioid streaks that involves the optic choroid.	mondoexuq1wtf	angioid streaks of optic choroid|optic choroid angioid streaks											DOID:979|UMLS:C0002983|ICD9:363.43|SCTID:86103006																		owl:Class
MONDO:0019646	biolink:NamedThing	unilateral congenital megacalycosis		mondoexuq1wtf												ICD10:Q63.8|Orphanet:93176																		owl:Class
MONDO:0019639	biolink:NamedThing	congenital megacalycosis	Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.	mondoexuq1wtf												Orphanet:93109|ICD10:Q63.8|ICD9:753.3|SCTID:85901000																		owl:Class
MONDO:0032628	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 24		mondoexuq1wtf	MC1DN24|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24											OMIM:618245																		owl:Class
MONDO:0000662	biolink:NamedThing	amusia	An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.	mondoexuq1wtf	receptive amusia											DOID:0060132|UMLS:C0234497																		owl:Class
MONDO:0016413	biolink:NamedThing	congenital hypothyroidism due to maternal intake of antithyroid drugs		mondoexuq1wtf												ICD10:P72.2|Orphanet:226313																		owl:Class
MONDO:0011468	biolink:NamedThing	hereditary motor and sensory neuropathy, Okinawa type	Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.	mondoexuq1wtf	HMSNO|HMSNP|neuropathy, hereditary motor and sensory, Okinawa type|hereditary motor and sensory neuropathy, proximal type, formerly|hereditary motor and sensory neuropathy, proximal type											ICD10:G60.0|GARD:0010131|OMIM:604484|Orphanet:90117|MESH:C535717																		owl:Class
MONDO:0012695	biolink:NamedThing	Meckel syndrome, type 5	Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	mondoexuq1wtf	Meckel syndrome 5|Meckel syndrome caused by mutation in RPGRIP1L|Meckel syndrome, type 5|Meckel-Gruber syndrome, type 5|RPGRIP1L Meckel syndrome|MKS5											ICD10:Q61.9|DOID:0070119|OMIM:611561|MESH:C566915|UMLS:C1969052																		owl:Class
MONDO:0019555	biolink:NamedThing	panniculitis and localized lipodystrophy		mondoexuq1wtf	panniculitis-induced localized lipodystrophy											ICD10:E88.1|Orphanet:90159|UMLS:CN227651																		owl:Class
MONDO:0011302	biolink:NamedThing	type 1 diabetes mellitus 17	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.	mondoexuq1wtf	IDDM17|insulin-dependent diabetes mellitus 17|diabetes mellitus, insulin-dependent, 17											UMLS:C1864068|OMIM:603266|DOID:0110754|MESH:C566395|ICD10:E10																		owl:Class
MONDO:0012705	biolink:NamedThing	familial temporal lobe epilepsy 3		mondoexuq1wtf	ETL3|FMTLE|epilepsy, familial temporal lobe, 3|familial temporal lobe epilepsy type 3|familial mesial temporal lobe epilepsy|epilepsy, familial mesial temporal lobe										MONDO:0000823	DOID:0060750|OMIM:611630|UMLS:C1968848|MESH:C566903																		owl:Class
MONDO:0004443	biolink:NamedThing	chest wall parachordoma	A parachordoma arising from the chest wall.	mondoexuq1wtf	chest wall parachordoma|parachordoma of the chest wall|parachordoma of chest wall											DOID:8043|NCIT:C6720|UMLS:C1332934																		owl:Class
MONDO:0003251	biolink:NamedThing	esophageal granular cell tumor	A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003	mondoexuq1wtf	esophageal granular cell tumor|granular cell neoplasm of esophagus|granular cell tumor of the esophagus|granular cell myoblastoma of esophagus|esophageal granular cell neoplasm|granular cell esophagus neoplasm|granular cell neoplasm of the esophagus|granular cell myoblastoma of the esophagus|granular cell tumor of esophagus|granular cell esophageal tumor|malignant granular cell esophageal tumor|esophageal granular cell myoblastoma|granular cell esophagus tumor|esophagus granular cell tumor|granular cell esophagus myoblastoma											NCIT:C5700|DOID:5040|UMLS:C1333448																		owl:Class
MONDO:0012489	biolink:NamedThing	cataract 23	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.	mondoexuq1wtf	cataract 23, multiple types, with or without microcornea|lamellar cataract 23|early-onset non-syndromic cataract caused by mutation in CRYBA4|CTRCT23|cataract type 23|cataract 23, lamellar|CRYBA4 early-onset non-syndromic cataract|cataract 23|cataract 23, multiple types											ICD10:Q12.0|DOID:0110271|OMIM:610425|UMLS:C3808012																		owl:Class
MONDO:0011685	biolink:NamedThing	polysubstance abuse, susceptibility to		mondoexuq1wtf	PSAB|drug addiction, susceptibility to|polysubstance abuse, susceptibility to											OMIM:606581																		owl:Class
MONDO:0015850	biolink:NamedThing	transverse vaginal septum		mondoexuq1wtf												HP:0000145|ICD10:Q52.11|ICD10:Q52.1|Orphanet:180160																		owl:Class
MONDO:0012133	biolink:NamedThing	lateral semicircular canal malformation, familial, with external and middle ear abnormalities		mondoexuq1wtf	lateral semicircular canal malformation, familial, with external and middle ear abnormalities											GARD:0010067|MESH:C537879|UMLS:C1837314|OMIM:608814														https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities				owl:Class
MONDO:0013886	biolink:NamedThing	nonprogressive cerebellar atxia with intellectual disability	Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	mondoexuq1wtf	nonprogressive cerebellar ataxia with mental retardation|cerebellar ataxia, nonprogressive, with intellectual disability|cerebellar ataxia, nonprogressive, with mental retardation|nonprogressive cerebellar ataxia with intellectual disability|non-progressive cerebellar ataxia with intellectual disability|CANPMR											OMIM:614756|UMLS:C3553661|DOID:0050998|SCTID:723441001|ICD10:G11.0|Orphanet:314647																		owl:Class
MONDO:0008559	biolink:NamedThing	thrombophilia due to thrombin defect	The formation of a blood clot (thrombus) in the lumen of a vein.	mondoexuq1wtf	venous thrombosis|thrombophilia due to Factor 2 defect|thrombosis, protection against|THPH1|Venous thromboembolism|hyperprothrombinemia|prothrombin thrombophilia|thrombophilia due to thrombin defect|prothrombin G20210A thrombophilia|prothrombin-related thrombophilia|prothrombin 20210G>A thrombophilia|factor II-related thrombophilia											OMIM:188050|SCTID:111293003|COHD:444247|ICD9:453.9|GARD:0010815																		owl:Class
MONDO:0003033	biolink:NamedThing	prostate angiosarcoma	A malignant vascular neoplasm arising from the prostate.	mondoexuq1wtf	hemangiosarcoma of prostate|prostate angiosarcoma|angiosarcoma of the prostate|hemangiosarcoma of the prostate|angiosarcoma (disease) of prostate gland|prostate hemangiosarcoma|angiosarcoma of prostate|prostate gland angiosarcoma (disease)|prostatic hemangiosarcoma|prostatic angiosarcoma											UMLS:C1335504|NCIT:C5528|DOID:4524																		owl:Class
MONDO:0008873	biolink:NamedThing	microcephalic osteodysplastic primordial dwarfism, type 3		mondoexuq1wtf	microcephalic osteodysplastic primordial dwarfism, type III|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|Mopd, Caroline Crachami type|osteodysplastic primordial dwarfism, type 3|Mopd, Sicilian fairy type|Mopd 3|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type											OMIM:210730|UMLS:C1859439|MESH:C537320																		owl:Class
MONDO:0004367	biolink:NamedThing	petroclival meningioma	A meningioma that affects the petroclival region.	mondoexuq1wtf												DOID:7818|NCIT:C5278|UMLS:C1335395																		owl:Class
MONDO:0032869	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6		mondoexuq1wtf	MC5DN6|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6											DOID:0111749|OMIM:618683																		owl:Class
MONDO:0009986	biolink:NamedThing	retinopathy, pigmentary, and intellectual disability		mondoexuq1wtf	retinopathy, pigmentary, and mental retardation|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary intellectual disability|retinopathy pigmentary mental retardation|retinal pigmentary degeneration, microcephaly, and severe intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy, pigmentary, and intellectual disability											OMIM:268050|Orphanet:3084|GARD:0004688|MESH:C538367																		owl:Class
MONDO:0060712	biolink:NamedThing	developmental delay, intellectual disability, obesity, and dysmorphic features		mondoexuq1wtf	DIDOD|developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features											UMLS:CN248510|OMIM:617991																		owl:Class
MONDO:0018126	biolink:NamedThing	progressive myoclonic epilepsy with dystonia	A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	mondoexuq1wtf	PMED|progressive myoclonus epilepsy with dystonia											Orphanet:352596|ICD10:G40.3|SCTID:763349002																		owl:Class
MONDO:0017787	biolink:NamedThing	erythroderma desquamativum		mondoexuq1wtf	Leiner-Moussous desquamative erythroderma|erythroderma desquamativa of Leiner|erythroderma desquamativum of infancy|Leiner disease|generalized erythroderma, diarrhea, and failure to thrive					Editors note: check whether xref to HGNC:1331 is appropriate						ICD10:L21.1|UMLS:CN203737|GARD:0002191|MESH:C535512|HGNC:1331|Orphanet:314														https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner				owl:Class
MONDO:0010670	biolink:NamedThing	X-linked intellectual disability-spastic quadriparesis syndrome		mondoexuq1wtf	mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia											Orphanet:163982|UMLS:C1839727|MESH:C564099|OMIM:309640																		owl:Class
MONDO:0012377	biolink:NamedThing	asperger syndrome, susceptibility to, 4		mondoexuq1wtf	ASPERGER syndrome, susceptibility to, 4|ASPG4											OMIM:609954																		owl:Class
MONDO:0011649	biolink:NamedThing	AVSD 1		mondoexuq1wtf	endocardial cushion defect|AVSD|atrioventricular septal defect, susceptibility to, 1|AVC defect|atrioventricular septal defect|atrioventricular canal defect											OMIM:606215																		owl:Class
MONDO:0030967	biolink:NamedThing	deafness, congenital, and adult-onset progressive leukoencephalopathy		mondoexuq1wtf	DEAPLE											OMIM:619196																		owl:Class
MONDO:0024348	biolink:NamedThing	pityriasis capitis		mondoexuq1wtf	pityriasis capitis											SCTID:400201008																		owl:Class
MONDO:0016711	biolink:NamedThing	desmoplastic/nodular medulloblastoma	Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	mondoexuq1wtf	Desmoplastic/nodular medulloblastoma|Desmoplastic nodular medulloblastoma|Desmoplastic medulloblastoma											NCIT:C4956|UMLS:C0751291|ICDO:9471/3|ICD10:C71.6|ONCOTREE:DMBL|Orphanet:251863																		owl:Class
MONDO:0006210	biolink:NamedThing	fibrolamellar hepatocellular carcinoma	A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.	mondoexuq1wtf	hepatocellular carcinoma, fibrolamellar|hepatocellular carcinoma (fibrolamellar variant)|fibrolamellar carcinoma|FL-HCC|polygonal cell type hepatocellular carcinoma with fibrous Stroma|fibrolamellar variant of hepatocellular carcinoma|eosinophilic glassy cell hepatoma|fibrolamellar hepatocarcinoma|eosinophilic hepatocellular carcinoma with lamellar fibrosis|liver cell fibrolamellar carcinoma|fibrolamellar carcinoma of the liver cells|FHCC|fibrolamellar hepatocellular carcinoma|FLC|hepatocellular fibrolamellar carcinoma|fibrolamellar cancer|polygonal cell hepatocellular carcinoma with fibrous stroma|oncocytic hepatocellular tumor|hepatocellular carcinoma with increased stromal fibrosis|fibrolamellar oncocytic hepatoma|fibrolamellar carcinoma of liver cells											ONCOTREE:FLC|DOID:5015|MESH:C537258|GARD:0009396|NCIT:C4131|ICD10:C22.0|UMLS:C0334287|SCTID:253018005|Orphanet:401920|EFO:1000256|ICDO:8171/3																		owl:Class
MONDO:0004936	biolink:NamedThing	uterine inversion	A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.	mondoexuq1wtf												DOID:997|EFO:1001446|SCTID:27215002|ICD9:665.2|MESH:D019687|ICD10:N85.5																		owl:Class
MONDO:0003915	biolink:NamedThing	cortical thymoma	A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.	mondoexuq1wtf	polygonal cell thymoma|cortical thymoma|thymoma type B2|thymoma, cortical											DOID:6530|ICDO:8584/1|NCIT:C6888|UMLS:C1266095																		owl:Class
MONDO:0012773	biolink:NamedThing	Hunter-Macdonald syndrome		mondoexuq1wtf	Hunter-Macdonald syndrome											MESH:C567445|OMIM:611962|UMLS:C2677745																		owl:Class
MONDO:0044718	biolink:NamedThing	alkaline ceramidase 3 deficiency		mondoexuq1wtf	leukodystrophy, progressive, early childhood-onset|PLDECO|ACER3-related early childhood-onset progressive leukodystrophy|leukodystrophy due to alkaline ceramidase 3 deficiency											OMIM:617762|Orphanet:502444|UMLS:CN603947																		owl:Class
MONDO:0054722	biolink:NamedThing	geleophysic dysplasia 3		mondoexuq1wtf	GPHYSD3|GELEOPHYSIC dysplasia 3											OMIM:617809|DOID:0111727																		owl:Class
MONDO:0000891	biolink:NamedThing	mixed fibrolamellar hepatocellular carcinoma	A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.	mondoexuq1wtf												DOID:0080182																		owl:Class
MONDO:0017568	biolink:NamedThing	Prata-Liberal-Goncalves syndrome	Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	mondoexuq1wtf	acrodysplasia scoliosis|brachydactyly-scoliosis-carpal fusion syndrome											ICD10:Q87.8|UMLS:CN203304|Orphanet:2956|GARD:0000491|UMLS:C2931761																		owl:Class
MONDO:0019899	biolink:NamedThing	distal monosomy 20q		mondoexuq1wtf	distal deletion 20q|telomeric deletion 20q|monosomy 20qter|distal monosomy type 20q											Orphanet:96152|ICD10:Q93.5																		owl:Class
MONDO:0012749	biolink:NamedThing	mesomelic dysplasia, camera type		mondoexuq1wtf	mesomelic dysplasia, camera type											MESH:C567503|UMLS:C2678472|OMIM:611886																		owl:Class
MONDO:0003824	biolink:NamedThing	hereditary kidney oncocytoma	An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.	mondoexuq1wtf	familial renal oncocytoma|hereditary renal oncocytoma|hereditary kidney oncocytoma											NCIT:C8960|DOID:6244|UMLS:C0879606																		owl:Class
MONDO:0044205	biolink:NamedThing	Shwachman-Diamond syndrome 2	Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).	mondoexuq1wtf	Shwachman-Diamond syndrome 2|SDS2											UMLS:CN244554|OMIM:617941																		owl:Class
MONDO:0011117	biolink:NamedThing	iris pigment epithelium anomalies		mondoexuq1wtf	iris pigment epithelium anomalies|cysts of iris pigment epithelium|ruffles and cysts of iris pigment epithelium											UMLS:C1866608|OMIM:601616|MESH:C566651																		owl:Class
MONDO:0002511	biolink:NamedThing	stenosis of lacrimal sac		mondoexuq1wtf												COHD:439026|SCTID:11772001|DOID:3096|ICD10:H04.57|ICD9:375.54|ICD10:H04.579																		owl:Class
MONDO:0016996	biolink:NamedThing	NK-cell enteropathy	Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	mondoexuq1wtf						Editor note: TODO - complete axioms						ICD10:K63.8|Orphanet:263665|UMLS:C4509932|SCTID:723496007																		owl:Class
MONDO:0013963	biolink:NamedThing	autosomal recessive nonsyndromic deafness 93	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.	mondoexuq1wtf	autosomal recessive deafness 93|DFNB93|autosomal recessive nonsyndromic deafness type 93|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|CABP2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 93|deafness, autosomal recessive 93											DOID:0110537|OMIM:614899|ICD10:H90.3																		owl:Class
MONDO:0009380	biolink:NamedThing	Dubin-Johnson syndrome	Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.	mondoexuq1wtf	Dubin Johnson syndrome|chronic idiopathic jaundice|hyperbilirubinemia, Dubin-Johnson type|DJS|hyperbilirubinemia type 2|Dubin-Johnson syndrome|conjugated hyperbilirubinemia|hyperbilirubinemia 2|Dubin-Sprinz disease|Sprinz-Nelson syndrome											Orphanet:234|MESH:D007566|GARD:0006289|GARD:0002793|DOID:12308|ICD10:E80.6|SCTID:44553005|MedDRA:10013800|UMLS:C0022350|NCIT:C34741|OMIM:237500																		owl:Class
MONDO:0018551	biolink:NamedThing	patent urachus	Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.	mondoexuq1wtf	patent urachus|patent urachus (disease)		patent urachus (disease)									ICD10:Q64.4|SCTID:398316009|HP:0010479|Orphanet:431341|NCIT:C99005|UMLS:CN237552																		owl:Class
MONDO:0003654	biolink:NamedThing	childhood parosteal osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.	mondoexuq1wtf	childhood parosteal osteogenic sarcoma|childhood parosteal osteosarcoma											NCIT:C6589|UMLS:C1332994|DOID:5809																		owl:Class
MONDO:0011446	biolink:NamedThing	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders		mondoexuq1wtf	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders											UMLS:C1858478|OMIM:604363|MESH:C565786																		owl:Class
MONDO:0033651	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 16		mondoexuq1wtf	MC4DN16											OMIM:619060																		owl:Class
MONDO:0007774	biolink:NamedThing	hyperreflexia	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	mondoexuq1wtf	hyperreflexia|HRX|hyperreflexia (disease)		hyperreflexia (disease)									MESH:D012021|OMIM:145290|HP:0001347																		owl:Class
MONDO:0010085	biolink:NamedThing	Schilder disease	Schilder's disease is a progressive demyelinating disorder of the central nervous system.	mondoexuq1wtf	Myelinoclastic diffuse sclerosis|SUDANOPHILIC cerebral sclerosis|Schilder's disease|Schilder disease											OMIM:272100|ICD9:341.1|Orphanet:59298|SCTID:49692006|ICD10:G37.0|UMLS:C0007795																		owl:Class
MONDO:0022965	biolink:NamedThing	desmoplastic infantile ganglioglioma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	mondoexuq1wtf	Desmoplastic infantile ganglioglioma|DIG											NCIT:C4738|GARD:0008648|UMLS:C1321878|ONCOTREE:DIG														https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma				owl:Class
MONDO:0007282	biolink:NamedThing	cataract 29	A cataract that has material basis in variation in the region 2pter-p24.	mondoexuq1wtf	cataract 29 coralliform|cataract type 29|cataract 29|cataract 29, coralliform|CTRCT29											OMIM:115800|ICD10:Q12.0|UMLS:C3805409|DOID:0110232																		owl:Class
MONDO:0020375	biolink:NamedThing	coralliform cataract		mondoexuq1wtf												UMLS:CN207246|Orphanet:98990|ICD10:Q12.0																		owl:Class
MONDO:0010014	biolink:NamedThing	craniometadiaphyseal dysplasia, wormian bone type	Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	mondoexuq1wtf	CRANIOMETADIAPHYSEAL dysplasia|Schwartz-Lelek syndrome|CRMDD					OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb.						OMIM:269300|Orphanet:85184|SCTID:278833002|ICD10:Q78.8																		owl:Class
MONDO:0002202	biolink:NamedThing	outlet dysfunction constipation		mondoexuq1wtf												ICD10:K59.02|DOID:2088|ICD9:564.02																		owl:Class
MONDO:0009687	biolink:NamedThing	myasthenia, congenital, refractory to acetylcholinesterase inhibitors		mondoexuq1wtf	myasthenia, congenital, refractory to acetylcholinesterase inhibitors											OMIM:254190|MESH:C564979|UMLS:C1850806																		owl:Class
MONDO:0019643	biolink:NamedThing	transient pseudohypoaldosteronism	Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	mondoexuq1wtf	TPHA											UMLS:C4273962|UMLS:CN776908|Orphanet:93164|SCTID:717263009|ICD10:N15.8																		owl:Class
MONDO:0013768	biolink:NamedThing	arterial calcification, generalized, of infancy, 2	Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.	mondoexuq1wtf	arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, 2|GACI2											OMIM:614473|UMLS:C3276161																		owl:Class
MONDO:0016548	biolink:NamedThing	megacystis-megaureter syndrome	Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.	mondoexuq1wtf	megaureter-megacystis syndrome											Orphanet:238637|SCTID:253904001|ICD10:Q62.7																		owl:Class
MONDO:0013583	biolink:NamedThing	occipital pachygyria and polymicrogyria		mondoexuq1wtf	occipital MCD|OCCM|occipital malformations of cortical development|cortical malformations, occipital											OMIM:614115|Orphanet:280640|UMLS:C3279875|ICD10:Q04.3																		owl:Class
MONDO:0018592	biolink:NamedThing	cutaneous polyarteritis nodosa	Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.	mondoexuq1wtf	cutaneous periarteritis nodosa|cutaneous PAN											ICD10:M30.0|ICD9:709.8|SCTID:239926000|Orphanet:439729|UMLS:CN242143|UMLS:C0343190|NCIT:C117295|GARD:0007415														https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa				owl:Class
MONDO:0030073	biolink:NamedThing	Mitchell syndrome		mondoexuq1wtf	Mitchell syndrome|MITCH											OMIM:618960																		owl:Class
MONDO:0030018	biolink:NamedThing	autoinflammation with episodic fever and lymphadenopathy		mondoexuq1wtf	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY|Cria Syndrome|AIEFL|Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|autoinflammation with episodic fever and lymphadenopathy											OMIM:618852																		owl:Class
MONDO:0009070	biolink:NamedThing	D-glyceric aciduria	A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.	mondoexuq1wtf	glycerate kinase deficiency|d-glyceric aciduria|non ketotic hyperglycinemia syndrome|D-glycericacidemia|D-glyceric acidemia|D-glycerate kinase deficiency											ICD10:E74.8|UMLS:C0342765|SCTID:237980004|DOID:0111626|MESH:C535767|GARD:0000234|OMIM:220120|NCIT:C128804|UMLS:C1291386|Orphanet:941														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0007237	biolink:NamedThing	familial juvenile hypertrophy of the breast	Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	mondoexuq1wtf	JHB|hypertrophy of the breast, juvenile|juvenile macromastia|virginal mammary hypertrophy|juvenile gigantomastia|virginal breast hypertrophy|familial juvenile gigantomastia|gigantomastia, juvenile											ICD10:N62|UMLS:CN226754|MESH:C536821|Orphanet:180176|OMIM:113670																		owl:Class
MONDO:0011955	biolink:NamedThing	diabetes mellitus, noninsulin-dependent, 4		mondoexuq1wtf	diabetes mellitus, noninsulin-dependent, 4|diabetes mellitus, noninsulin-dependent, type 4|Niddm4|noninsulin-dependent diabetes mellitus 4											OMIM:608036|UMLS:C1842642|MESH:C564299																		owl:Class
MONDO:0018389	biolink:NamedThing	male infertility due to gonadal dysgenesis or sperm disorder		mondoexuq1wtf	Male infertility due to testicular dysgenesis or sperm disorder											ICD10:N46|Orphanet:399764|UMLS:CN227337																		owl:Class
MONDO:0018703	biolink:NamedThing	isolated splenogonadal fusion		mondoexuq1wtf	SGF											Orphanet:457083|ICD10:Q89.0|UMLS:CN242095																		owl:Class
MONDO:0004613	biolink:NamedThing	acute intestinal ischemia	Ischemia of the intestine that is rapid in onset.	mondoexuq1wtf	acute intestinal ischemia|acute intestinal vascular insufficiency											ICD9:557.0|DOID:8590|COHD:201894|UMLS:C0001363|NCIT:C34356|SCTID:91489000																		owl:Class
MONDO:0010603	biolink:NamedThing	hemophilia A with vascular abnormality		mondoexuq1wtf	hemophilia A with vascular abnormality											UMLS:C1844137|MESH:C564415|OMIM:306800																		owl:Class
MONDO:0013321	biolink:NamedThing	forsythe-wakeling syndrome		mondoexuq1wtf	FWS|FORSYTHE-WAKELING syndrome|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia											UMLS:C3150859|OMIM:613606																		owl:Class
MONDO:0006385	biolink:NamedThing	primary intraosseous squamous cell carcinoma	A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.	mondoexuq1wtf	PIOSCC											EFO:1000492|NCIT:C54295|UMLS:C1709663																		owl:Class
MONDO:0015840	biolink:NamedThing	complete septate uterus	Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	mondoexuq1wtf	total septate uterus											Orphanet:180126|ICD10:Q51.2																		owl:Class
MONDO:0004833	biolink:NamedThing	plantar fasciitis	Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.	mondoexuq1wtf												MESH:D036981|EFO:1001909|SCTID:202882003|ICD10:M72.2|UMLS:C0149756|COHD:4002650|DOID:9600																		owl:Class
MONDO:0008020	biolink:NamedThing	multiple exostoses with spastic tetraparesis		mondoexuq1wtf	multiple exostoses with spastic tetraparesis|spasticity multiple exostoses|Hamann Zanki schimrigk syndrome											MESH:C563566|OMIM:158345|UMLS:C1834724|GARD:0000291																		owl:Class
MONDO:0004265	biolink:NamedThing	acute endometritis	An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.	mondoexuq1wtf	endometritis, acute											ICD9:615.0|NCIT:C27022|DOID:7528|SCTID:67667007|UMLS:C0238103																		owl:Class
MONDO:0020670	biolink:NamedThing	antithrombin deficiency type 2		mondoexuq1wtf	antithrombmin III deficiency Type II|Inherited antithrombin deficiency type II|antithrombin deficiency type 2											GARD:0010182|MESH:C537779																		owl:Class
MONDO:0019644	biolink:NamedThing	renal dysplasia, unilateral	Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	mondoexuq1wtf	unilateral renal dysplasia											Orphanet:93172|ICD10:Q61.4|HP:0008718																		owl:Class
MONDO:0001610	biolink:NamedThing	acute dacryocystitis	Acute form of dacryocystitis.	mondoexuq1wtf	dacryocystitis, acute|dacryocystitis - acute											UMLS:C0155237|ICD10:H04.32|SCTID:25470000|DOID:12996|COHD:438761|ICD9:375.32																		owl:Class
MONDO:0018566	biolink:NamedThing	short stature-advanced bone age-early-onset osteoarthritis syndrome		mondoexuq1wtf												UMLS:CN237575|ICD10:M89.8|Orphanet:435804																		owl:Class
MONDO:0009535	biolink:NamedThing	lymphedema, congenital recessive		mondoexuq1wtf	lymphedema, congenital recessive											MESH:C565432|OMIM:247440|UMLS:C1855475																		owl:Class
MONDO:0024518	biolink:NamedThing	reactive thrombocytosis	A thrombocytosis caused by an underlying condition, such as an infection.	mondoexuq1wtf	secondary thrombocytosis											SCTID:234500001|UMLS:C0457506|ICD9:286.9																		owl:Class
MONDO:0004938	biolink:NamedThing	substance dependence	The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.	mondoexuq1wtf	dependence											NCIT:C35458|DOID:9973|SCTID:2403008|ICD9:304.60																		owl:Class
MONDO:0008288	biolink:NamedThing	popliteal cyst	A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.	mondoexuq1wtf	popliteal cyst|baker cyst											MESH:D011151|SCTID:82675004|OMIM:175750|ICD9:727.51																		owl:Class
MONDO:0013129	biolink:NamedThing	cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.	mondoexuq1wtf	achromatopsia 5|COD4|cone dystrophy 4|PDE6C cone dystrophy|cone dystrophy caused by mutation in PDE6C|cone dystrophy type 4											OMIM:613093|NCIT:C164226																		owl:Class
MONDO:0011764	biolink:NamedThing	autosomal dominant Parkinson disease 8	Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.	mondoexuq1wtf	PARK8|Parkinson disease caused by mutation in LRRK2|LRRK2 Parkinson disease|Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson's disease 8|autosomal dominant Parkinson disease type 8											OMIM:607060|UMLS:C1846862|DOID:0060371																		owl:Class
MONDO:0019374	biolink:NamedThing	CAMOS syndrome	CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	mondoexuq1wtf	cerebellar ataxia with mental retardation optic atrophy and skin abnormalities|spinocerebellar ataxia autosomal recessive 5|SCAR5|CAMOS|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities											ICD10:G11.1|UMLS:C1847114|UMLS:C4511633|Orphanet:83472|SCTID:726031001|GARD:0009977																		owl:Class
MONDO:0017248	biolink:NamedThing	congenital pulmonary airway malformation type 0		mondoexuq1wtf	congenital cystic adenomatoid malformation of the lung type 0|CPAM type 0|congenital cystic adenomatous malformation of the lung type 0											ICD10:Q33.0|Orphanet:280827																		owl:Class
MONDO:0020820	biolink:NamedThing	distal arthrogryposis type 2B1		mondoexuq1wtf	DA2B1											DOID:0111600|OMIM:601680																		owl:Class
MONDO:0008325	biolink:NamedThing	Pseudoatrophoderma colli		mondoexuq1wtf	Pseudoatrophoderma colli											UMLS:C0406561|MESH:C562909|SCTID:238840009|OMIM:177350																		owl:Class
MONDO:0031001	biolink:NamedThing	vitreoretinopathy with phalangeal epiphyseal dysplasia		mondoexuq1wtf	VPED											OMIM:619248																		owl:Class
MONDO:0020362	biolink:NamedThing	inverse Marcus-Gunn phenomenon	Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.	mondoexuq1wtf												Orphanet:98951|ICD10:Q07.8|UMLS:CN207213																		owl:Class
MONDO:0014573	biolink:NamedThing	Cole-Carpenter syndrome 2	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.	mondoexuq1wtf	Cole-Carpenter syndrome caused by mutation in SEC24D|Cole-Carpenter syndrome type 2|Cole-Carpenter syndrome 2|COLE-CARPENTER syndrome 2|SEC24D Cole-Carpenter syndrome|CLCRP2											UMLS:C4225382|OMIM:616294																		owl:Class
MONDO:0017833	biolink:NamedThing	primary hypereosinophilic syndrome		mondoexuq1wtf	primary HES|HES-M|HES-N|clonal hypereosinophilic syndrome|neoplastic hypereosinophilic syndrome											ICD10:D47.5|Orphanet:314950|UMLS:CN203808																		owl:Class
MONDO:0016839	biolink:NamedThing	distal 17p13.3 microdeletion syndrome	Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	mondoexuq1wtf	distal del(17)(p13.3)|distal monosomy 17p13.3											Orphanet:261257|UMLS:CN202175|ICD10:Q93.5|SCTID:764696007																		owl:Class
MONDO:0002261	biolink:NamedThing	keratopathy	Any disorder of the cornea.	mondoexuq1wtf												DOID:2283|NCIT:C27012|UMLS:C0235270																		owl:Class
MONDO:0014424	biolink:NamedThing	congenital deficiency in alpha-fetoprotein	Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.	mondoexuq1wtf	AFPD|ALPHA-fetoprotein deficiency											MESH:C566300|Orphanet:168612|OMIM:615969|UMLS:C1863081																		owl:Class
MONDO:0060562	biolink:NamedThing	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		mondoexuq1wtf	NELABA|encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities|lipoyltransferase 2 deficiency											OMIM:617668|UMLS:C4540052																		owl:Class
MONDO:0011440	biolink:NamedThing	hypertension, essential, susceptibility to, 2		mondoexuq1wtf	hypertension, essential, susceptibility to, type 2|hypertension, essential, susceptibility to, 2|Hyt2											OMIM:604329																		owl:Class
MONDO:0400005	biolink:NamedThing	refeeding syndrome	Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).	mondoexuq1wtf								http://orcid.org/0000-0002-7463-6306																						owl:Class
MONDO:0020393	biolink:NamedThing	discrete fibromuscular subaortic stenosis		mondoexuq1wtf												ICD10:Q24.4|Orphanet:99052																		owl:Class
MONDO:0011506	biolink:NamedThing	familial infantile myoclonic epilepsy		mondoexuq1wtf	myoclonic epilepsy, familial infantile|Eim|FIME|familial infantile myoclonus epilepsy											OMIM:605021|ICD10:G40.3|UMLS:C0917800|Orphanet:352582																		owl:Class
MONDO:0019486	biolink:NamedThing	myoclonic epilepsy of infancy		mondoexuq1wtf	benign myoclonic epilepsy of infancy|benign myoclonus epilepsy of infancy											ICD10:G40.3|Orphanet:86909|UMLS:CN206266																		owl:Class
MONDO:0007267	biolink:NamedThing	hypertrophic cardiomyopathy 3	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	mondoexuq1wtf	hypertrophic cardiomyopathy type 3|cardiomyopathy, familial hypertrophic, 3|CMH3|hypertrophic cardiomyopathy caused by mutation in TPM1|cardiomyopathy familial hypertrophic 3|cardiomyopathy, familial hypertrophic, type 3|TPM1 hypertrophic cardiomyopathy											MESH:C566170|UMLS:C1861863|DOID:0110309|OMIM:115196																		owl:Class
MONDO:0017320	biolink:NamedThing	phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.	mondoexuq1wtf	phosphoenolpyruvate carboxykinase (GTP) deficiency|PEPCK deficiency											MESH:C536654|SCTID:5335002|UMLS:C0268194|ICD10:E74.4|NCIT:C99015|Orphanet:2880|ICD9:277.89																		owl:Class
MONDO:0005190	biolink:NamedThing	macroglobulinemia	Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.	mondoexuq1wtf	primary macroglobulinemia											DOID:9080|ICD10:C88.0|ICD9:273.3|EFO:0002616|SCTID:190817009|COHD:435502|Wikipedia:Macroglobulinemia																		owl:Class
MONDO:0008189	biolink:NamedThing	papillomatosis, florid, of nipple	A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.	mondoexuq1wtf	papillomatosis florid of nipple|papillomatosis, florid, of nipple|erosive adenomatosis of the nipple|florid papillomatosis|florid papillomatosis of the nipple|erosive adenomatosis of nipple|erosive nipple adenomatosis											UMLS:C1868647|GARD:0010174|SCTID:237467005|NCIT:C4383|OMIM:167950|MESH:C537167														https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple				owl:Class
MONDO:0007927	biolink:NamedThing	congenital macroglossia		mondoexuq1wtf	macroglossia											OMIM:153630|MESH:C531735|SCTID:270516002|ICD9:750.15|ICD10:Q38.2|Orphanet:2430																		owl:Class
MONDO:0001227	biolink:NamedThing	chronic tympanitis	Chronic form of tympanitis.	mondoexuq1wtf	tympanitis, chronic											ICD10:H73.1|ICD10:H73.10|SCTID:89723004|UMLS:C0395849|DOID:11217|COHD:372652|ICD9:384.1																		owl:Class
MONDO:0027068	biolink:NamedThing	mitochondrial complex 1 deficiency, mitochondrial type 1	Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.	mondoexuq1wtf	MC1DM1|mitochondrial complex I deficiency, mitochondrial type 1											OMIM:500014																		owl:Class
MONDO:0100134	biolink:NamedThing	mitochondrial complex I deficiency, mitochondrial type		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0005758	biolink:NamedThing	eunuchism	The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.	mondoexuq1wtf	hypergonadotropic hypogonadism (Male)|Male hypergonadotropic hypogonadism|Primary testicular failure											ICD9:257.2|DOID:5003|MESH:D005058|EFO:0007266|SCTID:267403002|UMLS:C0238117|NCIT:C131195																		owl:Class
MONDO:0015310	biolink:NamedThing	syndromic optic nerve hypoplasia		mondoexuq1wtf												Orphanet:137905|UMLS:CN226655																		owl:Class
MONDO:0007268	biolink:NamedThing	hypertrophic cardiomyopathy 4	An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.	mondoexuq1wtf	hypertrophic cardiomyopathy caused by mutation in MYBPC3|cardiomyopathy, familial hypertrophic, 4, susceptibility to|MYBPC3 hypertrophic cardiomyopathy|CMH4|hypertrophic cardiomyopathy type 4|familial hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4|cardiomyopathy, familial hypertrophic, type 4											UMLS:C1861862|OMIM:115197|DOID:0110310|MESH:C566169|NCIT:C133725																		owl:Class
MONDO:0022729	biolink:NamedThing	chondrodysplasia punctata with steroid sulfatase deficiency		mondoexuq1wtf												GARD:0006050														https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency				owl:Class
MONDO:0006891	biolink:NamedThing	partial motor epilepsy	A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.	mondoexuq1wtf	focal motor seizure|epilepsy, focal motor											SCTID:128612007|DOID:3327|EFO:1001089|ICD9:780.39|MESH:D020938																		owl:Class
MONDO:0016466	biolink:NamedThing	asbestosis	A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.	mondoexuq1wtf	asbestosis|asbestos dust pneumoconiosis|asbestos intoxination|idiopathic interstitial pneumonitis - from asbestos exposure|asbestos pneumoconiosis|pulmonary fibrosis - from asbestos exposure|pneumoconiosis from asbestos dust|asbestos intoxication											Orphanet:2302|SCTID:22607003|UMLS:C0003949|ICD10:J61|COHD:256450|ICD9:501|MESH:D001195|CSP:2596-4484|GARD:0005852|EFO:0007153|DOID:10320|NCIT:C84573																		owl:Class
MONDO:0001323	biolink:NamedThing	infant gynecomastia	Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.	mondoexuq1wtf	breast engorgement in newborn|neonatal gynaecomastia											ICD9:778.7|DOID:11603|SCTID:34831003|ICD10:P83.4|UMLS:C1449721|COHD:73019																		owl:Class
MONDO:0006388	biolink:NamedThing	prolactin-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.	mondoexuq1wtf	malignant prolactin producing tumor of pituitary gland|malignant prolactin secreting pituitary tumor|malignant prolactin secreting tumor of pituitary gland|malignant prolactin producing neoplasm of pituitary gland|malignant prolactinoma of pituitary|malignant prolactin secreting tumor of pituitary|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing tumor of pituitary|malignant prolactin producing tumor of the pituitary gland|malignant prolactin producing tumor|malignant prolactinoma|prolactin-producing pituitary gland carcinoma|malignant prolactin secreting neoplasm of the pituitary|malignant prolactin producing pituitary gland tumor|malignant prolactin secreting pituitary gland tumor|malignant pituitary gland prolactinoma|malignant pituitary prolactinoma|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactinoma of pituitary gland|malignant prolactin secreting pituitary neoplasm|malignant prolactin producing pituitary gland neoplasm|prolactin producing pituitary gland carcinoma|malignant prolactin secreting tumor of the pituitary gland|malignant prolactin producing tumor of the pituitary|malignant prolactin producing pituitary tumor|malignant prolactin secreting tumor of the pituitary|malignant prolactin producing neoplasm of pituitary|PRL producing pituitary gland carcinoma|malignant prolactinoma of the pituitary gland|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactin secreting neoplasm of pituitary|malignant prolactin secreting pituitary gland neoplasm|malignant prolactinoma of the pituitary|malignant prolactin producing pituitary neoplasm											UMLS:C1334614|NCIT:C5962|EFO:1000497																		owl:Class
MONDO:0011970	biolink:NamedThing	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		mondoexuq1wtf	epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|Re-ped-Wc|EPRPDC											DOID:0111645|Orphanet:163727|MESH:C535499|OMIM:608105|UMLS:C1842531																		owl:Class
MONDO:0015378	biolink:NamedThing	fourth branchial cleft anomaly		mondoexuq1wtf	fourth branchial cleft fistula|fourth branchial cleft cyst											ICD10:Q18.0|SCTID:707234001|Orphanet:141037																		owl:Class
MONDO:0020444	biolink:NamedThing	subaortic course of innominate vein	Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	mondoexuq1wtf	subaortic course of brachiocephalic vein											SCTID:766756002|Orphanet:99113|ICD10:Q26.8																		owl:Class
MONDO:0013623	biolink:NamedThing	platelet-type bleeding disorder 11	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.	mondoexuq1wtf	glycoprotein VI deficiency|glycoprotein 6 deficiency|GP 6 deficiency|inherited bleeding disorder, platelet-type caused by mutation in GP6|bleeding disorder, platelet-type, 11|bleeding diathesis due to glycoprotein VI deficiency|BDPLT11|GP VI deficiency|platelet-type bleeding disorder-11|GP6 inherited bleeding disorder, platelet-type											DOID:0111057|UMLS:C3280120|SCTID:765977002|ICD10:D69.8|GARD:0013293|OMIM:614201|Orphanet:98885																		owl:Class
MONDO:0020920	biolink:NamedThing	escherichia coli infection	Infection with the organism Escherichia Coli.	mondoexuq1wtf	E coli infections|E. coli Infections|E coli Infection|escherichia coli infection|E COLI INFECT|e coli infection|Bacterial infection caused by E. coli|E. coli Infection|ESCHERICHIA COLI INFECT|Infection, E coli|Infection, E. coli|Infection due to Escherichia coli|E coli Infections|Infection, Escherichia coli|Escherichia coli Infections|E coli infections, recurrent|Escherichia Coli Infection|Escherichia coli Infection|Infections, Escherichia coli|Infections, E coli|E. coli infection|E Coli Infection|Colibacillosis|Infection caused by Escherichia coli|Bacterial infection due to E. coli|Recurrent E. coli infections|INFECT ESCHERICHIA COLI|Escherichia coli infection|INFECT E COLI											UMLS:C0014836|EFO:1001318|GTR:AN0485754|MESH:D004927|NCIT:C34594|GTR:AN0485755|HP:0002740|SCTID:71057007|GTR:AN0474198																		owl:Class
MONDO:0011326	biolink:NamedThing	citrullinemia, type II, adult-onset	Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.	mondoexuq1wtf	CTLN2|citrullinemia, type II, adult-onset|citrullinemia type 2|adult-onset citrullinemia type II|citrin deficiency|citrullinemia, type II, ADULT-onset|citrullinemia type II|adult-onset citrullinemia type 2					TODO - merge into parent						GARD:0010215|DOID:0070342|OMIM:603471														https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii				owl:Class
MONDO:0044682	biolink:NamedThing	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome		mondoexuq1wtf	MYBPC1-related autosomal recessive non-lethal AMC syndrome											Orphanet:498693																		owl:Class
MONDO:0025354	biolink:NamedThing	spermatogenic failure, X-linked, 3		mondoexuq1wtf	spermatogenic failure, X-linked, 3|SPGFX3											OMIM:301059																		owl:Class
MONDO:0033091	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 14		mondoexuq1wtf	ARCI14|ichthyosis, congenital, autosomal recessive 14|autosomal recessive congenital ichthyosis 14											OMIM:617571|UMLS:CN317536|DOID:0080258																		owl:Class
MONDO:0012989	biolink:NamedThing	microcephaly 7, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.	mondoexuq1wtf	STIL autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in STIL|microcephaly 7, primary, autosomal recessive|MCPH7											MESH:C567198|OMIM:612703|UMLS:C2675187|DOID:0070278																		owl:Class
MONDO:0007965	biolink:NamedThing	melanoma, malignant familial intraocular		mondoexuq1wtf	melanoma, malignant familial intraocular											UMLS:C1835043|OMIM:155700|MESH:C563596																		owl:Class
MONDO:0021281	biolink:NamedThing	cavernous hemangioma of retina	A cavernous hemangioma that involves the retina.	mondoexuq1wtf	retinal cavernous hemangioma|retinal cavernous angioma|cavernous angioma of retina|retina cavernous hemangioma|cavernous hemangioma of the retina|cavernous angioma of the retina|retina cavernous angioma											NCIT:C4921|SCTID:312937006|UMLS:C0730304																		owl:Class
MONDO:0010692	biolink:NamedThing	nuclear ribonucleic acid		mondoexuq1wtf	nRNA|nuclear ribonucleic acid											OMIM:310650																		owl:Class
MONDO:0012453	biolink:NamedThing	hereditary spastic paraplegia 31	A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	mondoexuq1wtf	spastic paraplegia 31|SPG31|hereditary spastic paraplegia type 31|autosomal dominant spastic paraplegia 31|hereditary spastic paraplegia caused by mutation in REEP1|autosomal dominant spastic paraplegia type 31|REEP1 hereditary spastic paraplegia|spastic paraplegia 31, autosomal dominant											Orphanet:101011|DOID:0110782|MESH:C565210|ICD10:G11.4|SCTID:763068005|OMIM:610250|GARD:0010817|UMLS:C1853247																		owl:Class
MONDO:0011354	biolink:NamedThing	situs inversus totalis with cystic dysplasia of kidneys and pancreas		mondoexuq1wtf	situs inversus totalis with cystic dysplasia of kidneys and pancreas|situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios											MESH:C536666|UMLS:C1863647|OMIM:603643|GARD:0008567														https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas				owl:Class
MONDO:0022011	biolink:NamedThing	bobble-head doll syndrome	Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.	mondoexuq1wtf	bobble head doll syndrome|BHDS											GARD:0009731|MESH:C536241														https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome				owl:Class
MONDO:0007280	biolink:NamedThing	cataract 8 multiple types	A cataract that has material basis in variation in the region 1pter-p36.13.	mondoexuq1wtf	CTRCT8|cataract congenital Volkmann type|cataract 8, multiple types|cataract, congenital, Volkmann type											UMLS:C1861833|Orphanet:98983|DOID:0110228|ICD10:Q12.0|GARD:0001146|OMIM:115665|MESH:C538285																		owl:Class
MONDO:0011148	biolink:NamedThing	Spondylospinal thoracic dysostosis	Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.	mondoexuq1wtf	spondylospinal thoracic dysostosis											OMIM:601809|MESH:C566622|GARD:0010571|UMLS:C1866184														https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis				owl:Class
MONDO:0017472	biolink:NamedThing	patella aplasia/hypoplasia, unilateral		mondoexuq1wtf												ICD10:Q74.1|Orphanet:295038																		owl:Class
MONDO:0007873	biolink:NamedThing	lactic acidosis, chronic adult form		mondoexuq1wtf	lactic acidosis, chronic adult form											UMLS:C1835591|MESH:C563640|OMIM:150170																		owl:Class
CL:0000553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018980	biolink:NamedThing	acrofacial dysostosis, Kennedy-Teebi type	Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	mondoexuq1wtf	Kennedy-Teebi syndrome											SCTID:720427009|Orphanet:64542|ICD10:Q75.4|UMLS:CN205418																		owl:Class
MONDO:0032813	biolink:NamedThing	developmental and epileptic encephalopathy, 79		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79|EIEE79|epileptic encephalopathy, early infantile, 79|DEE79											OMIM:618559																		owl:Class
MONDO:0001636	biolink:NamedThing	mechanical entropion		mondoexuq1wtf												ICD9:374.02|SCTID:38683003|UMLS:C0155189|DOID:13112|COHD:376418																		owl:Class
MONDO:0054869	biolink:NamedThing	nondystrophic myotonia		mondoexuq1wtf	NDM											GARD:0009852|MESH:C536245																		owl:Class
MONDO:0002955	biolink:NamedThing	vulva basal cell carcinoma	A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.	mondoexuq1wtf	basal cell carcinoma of the vulva|basal cell carcinoma of vulva|skin basal cell carcinoma of mammalian vulva|mammalian vulva skin basal cell carcinoma|vulvar basal cell carcinoma|vulvar basal cell cancer											NCIT:C6381|Orphanet:494451|UMLS:C1336977|DOID:4301|SCTID:717731002																		owl:Class
MONDO:0017591	biolink:NamedThing	combined pulmonary fibrosis-emphysema syndrome		mondoexuq1wtf	CPFE											Orphanet:300564|ICD10:J84.1|UMLS:CN203401																		owl:Class
MONDO:0023102	biolink:NamedThing	facio skeletal genital syndrome rippberger type		mondoexuq1wtf	Ripperger Aase syndrome											GARD:0002227														https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type				owl:Class
MONDO:0004935	biolink:NamedThing	acquired carotenemia		mondoexuq1wtf	carotenemia|hypercarotinemia					Editor note: consider merging into parent. An explicit acquired subclass was created for consistency with DO						SCTID:35487009|DOID:9969|ICD9:278.3|COHD:433985																		owl:Class
MONDO:0019823	biolink:NamedThing	premature closure of the arterial duct	Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.	mondoexuq1wtf	premature closure of the patent ductus arteriosus											Orphanet:95486|ICD10:Q25.8																		owl:Class
MONDO:0019822	biolink:NamedThing	arterial duct anomaly		mondoexuq1wtf	patent ductus arteriosus anomalies											Orphanet:95485																		owl:Class
MONDO:0004239	biolink:NamedThing	cervical keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.	mondoexuq1wtf	cervical keratinizing squamous cell carcinoma											DOID:7483|UMLS:C1517658|NCIT:C40187																		owl:Class
MONDO:0012777	biolink:NamedThing	celiac disease, susceptibility to, 8		mondoexuq1wtf	celiac disease, susceptibility to, 8|gluten-sensitive enteropathy, susceptibility to, 8|CELIAC8											OMIM:612006																		owl:Class
MONDO:0004213	biolink:NamedThing	vulvar non-keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.	mondoexuq1wtf												DOID:7409|NCIT:C40285|UMLS:C1520092																		owl:Class
MONDO:0033560	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 35		mondoexuq1wtf	MC1DN35|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35											OMIM:619003																		owl:Class
MONDO:0020816	biolink:NamedThing	miliaria papulosa		mondoexuq1wtf												SCTID:201192006																		owl:Class
MONDO:0030925	biolink:NamedThing	oocyte maturation defect 10		mondoexuq1wtf	oocyte maturation defect 10|OOMD10											OMIM:619176																		owl:Class
MONDO:0043247	biolink:NamedThing	Mallory-Weiss syndrome	A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.	mondoexuq1wtf	laceration-hemorrhage, gastroesophageal|laceration, Mallory-Weiss|mucosal Lacerations-gastroesophageal junctions|Lacerations-gastroesophageal junctions, mucosal|gastroesophageal laceration hemorrhage|Mallory Weiss laceration|mucosal Lacerations-gastroesophageal junction|gastro-esophageal laceration-hemorrhage syndrome|Lacerations-gastroesophageal junction, mucosal|Mallory Weiss tear|gastroesophageal laceration-hemorrhage|mucosal Lacerations gastroesophageal junction|junctions, mucosal Lacerations-gastroesophageal|gastroesophageal laceration-hemorrhages|Mallory-Weiss tear|Mallory Weiss syndrome|Mallory-Weiss syndrome|junction, mucosal Lacerations-gastroesophageal|laceration-hemorrhages, gastroesophageal|gastroesophageal laceration-hemorrhage syndrome|syndrome, Mallory-Weiss|mucosal lacerations - gastroesophageal junction|Mallory-Weiss laceration											MESH:D008309|NCIT:C84881|SCTID:35265002|UMLS:C0024633|GARD:0006967																		owl:Class
MONDO:0008772	biolink:NamedThing	amelogenesis imperfecta type 2A1	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.	mondoexuq1wtf	KLK4 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta pigmented hypomaturation type 1|amelogenesis imperfecta type IIA1|amelogenesis imperfecta pigmented hypomaturation type|amelogenesis imperfecta caused by mutation in KLK4|amelogenesis imperfecta, pigmented hypomaturation type, 1|AI2A1											DOID:0110057|MESH:C567146|OMIM:204700|GARD:0009495|ICD10:K00.5|MESH:C538242														https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type				owl:Class
MONDO:0022865	biolink:NamedThing	corneal dystrophy ichthyosis microcephaly intellectual disability		mondoexuq1wtf												GARD:0001528														https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation				owl:Class
MONDO:0011101	biolink:NamedThing	peroxisome biogenesis disorder 1B		mondoexuq1wtf	PBD1B|infantile phytanic acid storage disease|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder (NALD/Ird)|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|Refsum disease, infantile|peroxisome biogenesis disorder type 1B|adrenoleukodystrophy, autosomal neonatal											UMLS:CN168921|OMIM:601539														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0021139	biolink:NamedThing	congenital or acquired		mondoexuq1wtf																														owl:Class
MONDO:0007134	biolink:NamedThing	Cooks syndrome	Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	mondoexuq1wtf	ODP|Cooks syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|anonychia and absence/hypoplasia of distal phalanges											OMIM:106995|UMLS:C1862841|MESH:C537766|SCTID:720747002|GARD:0004083|Orphanet:1487|ICD10:Q84.6																		owl:Class
MONDO:0014186	biolink:NamedThing	retinitis pigmentosa with or without situs inversus	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.	mondoexuq1wtf	ARL2BP retinitis pigmentosa|retinitis pigmentosa caused by mutation in ARL2BP|retinitis pigmentosa with or without situs inversus											ICD10:H35.5|OMIM:615434|UMLS:C3809503|DOID:0110419																		owl:Class
MONDO:0011064	biolink:NamedThing	lethal chondrodysplasia, Seller type		mondoexuq1wtf	chondrodysplasia, lethal, with long bone angulation and mixed bone density|lethal chondrodysplasia seller type											UMLS:C1832410|ICD10:Q77.8|MESH:C563330|GARD:0003226|Orphanet:1421|OMIM:601376														https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type				owl:Class
MONDO:0015095	biolink:NamedThing	Peters anomaly-cataract syndrome		mondoexuq1wtf												Orphanet:101033|MESH:C537885|UMLS:C2931652|ICD10:Q13.3																		owl:Class
MONDO:0022912	biolink:NamedThing	cutis verticis gyrata mental deficiency		mondoexuq1wtf												GARD:0001644														https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency				owl:Class
MONDO:0032772	biolink:NamedThing	brain abnormalities, neurodegeneration, and dysosteosclerosis		mondoexuq1wtf	BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS|BANDDOS											OMIM:618476																		owl:Class
MONDO:0013624	biolink:NamedThing	Rafiq syndrome	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.	mondoexuq1wtf	mental retardation, autosomal recessive type 15|MRT15|autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|RAFQS|MAN1B1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 15|intellectual disability, autosomal recessive 15|CDG2U											OMIM:614202|UMLS:C3280127																		owl:Class
MONDO:0009994	biolink:NamedThing	alveolar rhabdomyosarcoma	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.	mondoexuq1wtf	rhabdomyosarcoma 2|monomorphous round cell rhabdomyosarcoma|rhabdomyosarcoma, alveolar|alveolar rhabdomyosarcoma (morphologic abnormality)|alveolar rhabdomyosarcoma|RMS2|alveolar rhabdomyosarcoma (disease)|rhabdomyosarcoma alveolar|arms|rhabdomyosarcoma type 2|pediatric alveolar rhabdomyosarcoma|alveolar childhood rhabdomyosarcoma		alveolar rhabdomyosarcoma (disease)									MESH:D018232|NCIT:C3749|MedDRA:10065867|ICD10:C49.9|SCTID:404053004|OMIM:268220|ICDO:8920/3|Orphanet:99756|ONCOTREE:ARMS|HP:0006779|ICD9:171.9|UMLS:C0206655|EFO:0000248|DOID:4051|GARD:0004701																		owl:Class
MONDO:0012222	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.	mondoexuq1wtf	Alpha-N-acetylgalactosaminidase deficiency adult onset|Kanzaki disease|Alpha-N-acetylgalactosaminidase deficiency, type 2|Naga deficiency, type 2|Schindler disease type 2|Alpha-N-acetylgalactosaminidase deficiency, adult-onset|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Schindler disease, type 2|KANZAKI disease|NAGA deficiency type 2											GARD:0009161|ICD10:E77.1|Orphanet:79280|OMIM:609242|UMLS:C1836522																		owl:Class
MONDO:0018567	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation		mondoexuq1wtf	CMT2 due to TFG mutation											Orphanet:435819|UMLS:CN237576|ICD10:G60.0																		owl:Class
MONDO:0014204	biolink:NamedThing	basal ganglia calcification, idiopathic, 5		mondoexuq1wtf	basal ganglia calcification, idiopathic, type 5|IBGC5|basal ganglia calcification, idiopathic, 5											UMLS:C3809645|OMIM:615483																		owl:Class
MONDO:0003649	biolink:NamedThing	esophageal neuroendocrine tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.	mondoexuq1wtf	esophageal neuroendocrine neoplasm|NEN of esophagus|esophageal well differentiated endocrine tumor|esophagus neuroendocrine tumor|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of esophagus|neuroendocrine tumor of esophagus|esophageal NEN|esophagus NET|esophagus neuroendocrine neoplasm|esophageal well differentiated endocrine tumor/carcinoma|esophageal neuroendocrine tumor|esophageal NET											NCIT:C95616|UMLS:C1333462|DOID:5784|Orphanet:506136|UMLS:C2987260																		owl:Class
MONDO:0012567	biolink:NamedThing	autism, susceptibility to, 12		mondoexuq1wtf	autism, susceptibility to, 12|AUTS12											OMIM:610838																		owl:Class
MONDO:0029147	biolink:NamedThing	spermatogenic failure 33		mondoexuq1wtf	SPGF33|SPERMATOGENIC FAILURE 33											OMIM:618152																		owl:Class
MONDO:0044648	biolink:NamedThing	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		mondoexuq1wtf	kyphoscoliosis-lateral tongue atrophy-HSP syndrome											Orphanet:496689																		owl:Class
MONDO:0001860	biolink:NamedThing	folic acid deficiency anemia		mondoexuq1wtf	folate-deficiency anemia|folate-deficient megaloblastic anaemia|folate deficiency anemia											DOID:14026|ICD9:281.2|UMLS:C0151482|ICD10:D52.9|ICD10:D52|SCTID:85649008																		owl:Class
MONDO:0011671	biolink:NamedThing	Huntington disease-like 2	Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.	mondoexuq1wtf	HDL2|Huntington disease-like 2|Huntington disease-like type 2|Huntington's disease-like 2											DOID:0090104|SCTID:721228006|MESH:C564708|UMLS:C1847987|ICD10:G10|Orphanet:98934|OMIM:606438																		owl:Class
MONDO:0054565	biolink:NamedThing	short-rib thoracic dysplasia 17 with or without polydactyly		mondoexuq1wtf	short-rib thoracic dysplasia 17 with or without POLYDACTYLY|SRTD17											OMIM:617405																		owl:Class
MONDO:0022103	biolink:NamedThing	chronic prostatitis	An infectious or non-infectious chronic inflammatory process that affects the prostate gland.	mondoexuq1wtf	chronic prostatitis|Chronic Prostatitis|Chronic prostatitis											UMLS:C0085696|ICD9:601.1|NCIT:C26930|SCTID:19905009																		owl:Class
MONDO:0033850	biolink:NamedThing	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect		mondoexuq1wtf												Orphanet:521411																		owl:Class
MONDO:0011065	biolink:NamedThing	Hunter-McAlpine craniosynostosis	Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).	mondoexuq1wtf	Hunter-McAlpine craniosynostosis syndrome|Hunter-McAlpine syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature											ICD10:Q87.0|GARD:0002754|OMIM:601379|MESH:C536072|UMLS:C1832408|SCTID:721227001|Orphanet:97340																		owl:Class
MONDO:0017243	biolink:NamedThing	bullous diffuse cutaneous mastocytosis	Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.	mondoexuq1wtf	bullous DCM											ICD10:Q82.2|Orphanet:280785																		owl:Class
MONDO:0015205	biolink:NamedThing	isolated lissencephaly type 1 without known genetic defects	Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	mondoexuq1wtf												UMLS:CN226623|SCTID:715406003|ICD10:Q04.3|UMLS:C4275151|Orphanet:1084																		owl:Class
MONDO:0010189	biolink:NamedThing	vitiligo, progressive, with intellectual disability and urethral duplication		mondoexuq1wtf	vitiligo, progressive, with mental retardation and urethral duplication|vitiligo, progressive, with intellectual disability and urethral duplication											MESH:C564739|UMLS:C1848532|OMIM:277465																		owl:Class
MONDO:0030922	biolink:NamedThing	intellectual disability, autosomal dominant 56		mondoexuq1wtf	autosomal dominant mental retardation 56|intellectual disability, autosomal dominant 56|autosomal dominant intellectual disability 56|MRD56|mental retardation, autosomal dominant 56											UMLS:CN787270|DOID:0080226|OMIM:617854																		owl:Class
MONDO:0100073	biolink:NamedThing	methicillin-resistant staphylococcus aureus infectious disease	Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.	mondoexuq1wtf	MRSA							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0010423	biolink:NamedThing	hypospadias 2, X-linked		mondoexuq1wtf	hypospadias 2, X-linked|HYSP2											MESH:C567462|OMIM:300758|UMLS:C2677879																		owl:Class
MONDO:0012159	biolink:NamedThing	lung cancer susceptibility 1		mondoexuq1wtf	lung cancer susceptibility 1|LNCR1											OMIM:608935|UMLS:C1837089																		owl:Class
MONDO:0022739	biolink:NamedThing	Christian demyer franken syndrome		mondoexuq1wtf												GARD:0001315														https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome				owl:Class
MONDO:0017463	biolink:NamedThing	congenital pseudoarthrosis of the femur		mondoexuq1wtf	congenital pseudarthrosis of the femur											ICD10:Q74.2|Orphanet:295020																		owl:Class
MONDO:0014183	biolink:NamedThing	myopia 23, autosomal recessive		mondoexuq1wtf	myopia 23, autosomal recessive|MYP23											OMIM:615431|UMLS:C3809482																		owl:Class
MONDO:0009402	biolink:NamedThing	acrofrontofacionasal dysostosis 2	A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	mondoexuq1wtf	acrofrontofacionasal dysostosis 2|acrofrontofacionasal syndrome type 2|acrofrontofacionasal dysostosis with genitourinary anomalies|AFFN dysostosis 2|hypertelorism hypospadias polysyndactyly syndrome|hypertelorism, hypospadias, and polysyndactyly syndrome|Naguib syndrome|Naguib-Richieri-Costa syndrome|acrofrontofacionasal dysostosis type 2|acrofrontofacionasal dysostosis, severe|hypertelorism-hypospadias-polysyndactyly syndrome											OMIM:239710|GARD:0000287|MESH:C538332|SCTID:721835008|Orphanet:2211|ICD10:Q87.8																		owl:Class
MONDO:0009574	biolink:NamedThing	megalencephaly with dysmyelination		mondoexuq1wtf	megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination											MESH:C565408|UMLS:C1855309|OMIM:249240																		owl:Class
MONDO:0014322	biolink:NamedThing	premature ovarian failure 9	Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.	mondoexuq1wtf	premature ovarian failure 9|primary ovarian failure caused by mutation in HFM1|HFM1 primary ovarian failure|Pof9|premature ovarian failure type 9											OMIM:615724|UMLS:C3810376																		owl:Class
MONDO:0004386	biolink:NamedThing	uterine corpus atypical polypoid adenomyoma	An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.	mondoexuq1wtf	atypical polypoid adenomyoma of body of uterus|body of uterus atypical polypoid adenomyoma											DOID:7878|NCIT:C40235|UMLS:C1519844																		owl:Class
MONDO:0021805	biolink:NamedThing	acromesomelic dysplasia, Campailla Martinelli type		mondoexuq1wtf	mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type											UMLS:C2930969|MESH:C535659|GARD:0000505														https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type				owl:Class
MONDO:0008562	biolink:NamedThing	thumb deformity-alopecia-pigmentation anomaly syndrome	Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	congenital deformity of the thumb and congenital alopecia|hypotrichosis associated with congenital hypoplasia of the thumb|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|thumb deformity, alopecia, pigmentation anomaly|thumb deformity and alopecia											OMIM:188150|Orphanet:2251|MESH:C566054|UMLS:C2931366|GARD:0005199																		owl:Class
MONDO:0006144	biolink:NamedThing	cervical Wilms tumor	An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.	mondoexuq1wtf	cervical Wilms tumor|cervical Wilms' tumor										MONDO:0003323	DOID:5190|UMLS:C1516437|EFO:1000173|NCIT:C40236																		owl:Class
MONDO:0002779	biolink:NamedThing	central nervous system chondroma	An extraskeletal chondroma usually arising from the dura.	mondoexuq1wtf	CNS chondroma|osteochondroma of the central nervous system|osteochondroma of CNS|chondroma of CNS|CNS osteochondroma|chondroma of the CNS|chondroma of the central nervous system|central nervous system osteochondroma|osteochondroma of central nervous system|chondroma of central nervous system|central nervous system chondroma|osteochondroma of the CNS											NCIT:C7001|DOID:3813|UMLS:C1333019																		owl:Class
MONDO:0044988	biolink:NamedThing	hip region disease	A disease or disorder that involves the hip.	mondoexuq1wtf	hip disease|disorder of hip|disease or disorder of hip|disease of hip|disorder of hip region|hip disease or disorder											SCTID:118935006|UMLS:C1290862																		owl:Class
MONDO:0006287	biolink:NamedThing	malignancy in giant cell tumor of bone	A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).	mondoexuq1wtf	malignancy in giant cell tumor of the bone|giant cell tumor of bone, malignant (morphologic abnormality)|giant cell sarcoma of bone|bone giant cell sarcoma|giant cell bone sarcoma|giant cell tumor of bone, malignant|OSTEOCLASTOMA, malignant|malignancy in giant cell tumor of bone|Dedifferentiated giant cell tumor|malignant giant cell tumor of bone|giant cell sarcoma of the bone											UMLS:C0334552|NCIT:C4304|DOID:4719|EFO:1000347|ICDO:9250/3																		owl:Class
MONDO:0003191	biolink:NamedThing	rete ovarii adenocarcinoma	An exceptionally rare adenocarcinoma that arises from the rete ovarii.	mondoexuq1wtf	rete ovarii adenocarcinoma											NCIT:C40017|DOID:4894|UMLS:C3840223																		owl:Class
MONDO:0006977	biolink:NamedThing	spermatocele	A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.	mondoexuq1wtf												MedDRA:10041490|MESH:D013088|ICD10:N43.40|SCTID:49263001|DOID:11997|ICD10:N43.4|ICD9:608.1|ICD10:N50.3|UMLS:C0037859|EFO:1001189|COHD:197601																		owl:Class
MONDO:0004149	biolink:NamedThing	gallbladder pleomorphic giant cell adenocarcinoma		mondoexuq1wtf	pleomorphic giant cell adenocarcinoma of the gallbladder											DOID:7222																		owl:Class
MONDO:0012334	biolink:NamedThing	hereditary spastic paraplegia 29	Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.	mondoexuq1wtf	autosomal dominant spastic paraplegia type 29|spastic paraplegia 29|SPG29|autosomal dominant spastic paraplegia 29|spastic paraplegia 29, autosomal dominant|hereditary spastic paraplegia type 29											GARD:0009729|SCTID:733029008|Orphanet:101009|OMIM:609727|MESH:C536863|ICD10:G11.4|DOID:0110780|UMLS:C1857855																		owl:Class
MONDO:0018056	biolink:NamedThing	bullous lichen planus	Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.	mondoexuq1wtf												ICD10:L43.1|UMLS:C0023648|MedDRA:10056960|Orphanet:33408|SCTID:6111009|NCIT:C34778																		owl:Class
MONDO:0014323	biolink:NamedThing	retinitis pigmentosa 68	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.	mondoexuq1wtf	SLC7A14 retinitis pigmentosa|retinitis pigmentosa 68|RP68|retinitis pigmentosa type 68|retinitis pigmentosa caused by mutation in SLC7A14											DOID:0110374|OMIM:615725|ICD10:H35.5|UMLS:C3810380																		owl:Class
MONDO:0042451	biolink:NamedThing	endomyometritis	An inflammation of the endometrium and the myometrium.	mondoexuq1wtf	endomyometritis											SCTID:88027004																		owl:Class
MONDO:0060532	biolink:NamedThing	congenital heart defects and skeletal malformations syndrome		mondoexuq1wtf	congenital heart defects and skeletal malformations syndrome|CHDSKM											UMLS:C4539857|OMIM:617602																		owl:Class
MONDO:0001903	biolink:NamedThing	calcific tendinitis		mondoexuq1wtf												ICD10:M65.2|SCTID:95414005|DOID:14181|UMLS:C0521515|ICD10:M75.3|ICD9:726.11																		owl:Class
MONDO:0004594	biolink:NamedThing	puerperal pulmonary embolism		mondoexuq1wtf												ICD9:673|ICD10:O88.21|DOID:8512|ICD9:673.80|ICD10:O88.23|SCTID:200284000|ICD9:673.81																		owl:Class
MONDO:0014957	biolink:NamedThing	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		mondoexuq1wtf	language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI|LADCI											UMLS:C4310678|OMIM:617182																		owl:Class
MONDO:0013434	biolink:NamedThing	primary ciliary dyskinesia 14	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.	mondoexuq1wtf	primary ciliary dyskinesia type 14|ciliary dyskinesia, primary, 14, with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC39|CILD14|ciliary dyskinesia, primary, type 14|CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14|primary ciliary dyskinesia 14 with or without situs inversus											DOID:0110598|ICD10:Q34.8|UMLS:C3151136|OMIM:613807																		owl:Class
MONDO:0032911	biolink:NamedThing	deafness, autosomal dominant 75		mondoexuq1wtf	DEAFNESS, AUTOSOMAL DOMINANT 75|DFNA75											OMIM:618778																		owl:Class
MONDO:0024612	biolink:NamedThing	manic bipolar affective disorder	The manic phase of bipolar disorder.	mondoexuq1wtf	bipolar affective disorder, current episode manic|manic bipolar affective disorder|manic-depressive - now manic											NCIT:C34805|SCTID:191618007																		owl:Class
MONDO:0042452	biolink:NamedThing	tertiary lesion of yaws		mondoexuq1wtf	tertiary stage of yaws|tertiary lesion of yaws|tertiary yaws											UMLS:C0343833|SCTID:88037009																		owl:Class
MONDO:0008496	biolink:NamedThing	storm syndrome		mondoexuq1wtf	storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue											MESH:C566109|UMLS:C1861452|GARD:0005035|OMIM:185069														https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome				owl:Class
MONDO:0003964	biolink:NamedThing	myositis ossificans	A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.	mondoexuq1wtf	ossification - muscle|Myisitis ossificans|progressive ossifying myositis|progressive myositis ossificans|fop|fibrodysplasia ossificans progressiva|myositis ossificans progressiva											MESH:D009221|UMLS:C0027122|NCIT:C3253|DOID:668																		owl:Class
MONDO:0007458	biolink:NamedThing	digitotalar dysmorphism; ulnar drift, hereditary		mondoexuq1wtf	digitotalar dysmorphism|ulnar drift, hereditary											SCTID:715314008|OMIM:126050																		owl:Class
MONDO:0004218	biolink:NamedThing	childhood germ cell brain tumor	A germ cell tumor arising from brain during childhood.	mondoexuq1wtf	germ cell tumor of the pediatric brain|Brain germ cell tumor|childhood germ cell brain neoplasm|germ cell tumor of pediatric brain|childhood brain germ cell neoplasm|germ cell neoplasm of the pediatric brain|germ cell tumor of childhood brain|germ cell tumor of the childhood brain|germ cell neoplasm of childhood brain|germ cell neoplasm of pediatric brain|germ cell neoplasm of the childhood brain|childhood brain germ cell tumor|pediatric brain germ cell tumor|pediatric brain germ cell neoplasm											UMLS:C1377598|DOID:7430|NCIT:C5795																		owl:Class
MONDO:0011925	biolink:NamedThing	congenital merosin-deficient muscular dystrophy 1A	Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.	mondoexuq1wtf	muscular dystrophy, congenital, merosin-deficient|merosin-negative congenital muscular dystrophy|muscular dystrophy, congenital, due to partial LAMA2 deficiency|muscular dystrophy, congenital merosin-deficient, 1A|congenital muscular dystrophy due to laminin alpha2 deficiency|muscular dystrophy, congenital merosin-deficient, type 1A|merosin-deficient congenital muscular dystrophy|laminin alpha-2 deficiency|MDC1A|congenital muscular dystrophy caused by mutation in LAMA2|merosin-deficient congenital muscular dystrophy type 1A|LAMA2-related muscular dystrophy|CMD1A|congenital muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient|congenital merosin-deficient muscular dystrophy type 1A|LAMA2 congenital muscular dystrophy											ICD10:G71.2|NCIT:C118783|UMLS:C1263858|EFO:0009138|Orphanet:258|DOID:0110636|OMIM:607855|GARD:0003843|SCTID:111503008																		owl:Class
MONDO:0006571	biolink:NamedThing	lichen nitidus	A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.	mondoexuq1wtf	Pinkus' disease											UMLS:C0162849|DOID:8573|Wikipedia:Lichen_nitidus|ICD10:L44.1|COHD:132704|EFO:1000725|ICD9:697.1|MESH:D017513|SCTID:41890004																		owl:Class
MONDO:0018742	biolink:NamedThing	familial gastric type 1 neuroendocrine tumor		mondoexuq1wtf	familial type 1 gNET|hereditary type 1 gNET					Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859						Orphanet:464756|UMLS:CN242170																		owl:Class
MONDO:0001936	biolink:NamedThing	brawny scleritis		mondoexuq1wtf												DOID:14287|SCTID:91612009|UMLS:C0155356|ICD10:H15.02|ICD9:379.06																		owl:Class
MONDO:0008939	biolink:NamedThing	isolated cerebellar hypoplasia/agenesis	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.	mondoexuq1wtf	subtotal absence of cerebellum|Chiari 4 malformation|Chiari IV malformation|near total absence of cerebellum|cerebellar hypoplasia|congenital cerebellar Hypoplasia|isolated cerebellar agenesis											MedDRA:10008033|NCIT:C98890|OMIM:213000|SCTID:16026008|ICD10:Q04.3|Orphanet:1398|DOID:0070338|MESH:C562568|GARD:0001194																		owl:Class
MONDO:0002972	biolink:NamedThing	posterior mediastinum cancer	A malignant neoplasm involving the posterior mediastinum.	mondoexuq1wtf	cancer of posterior mediastinum|malignant posterior mediastinum neoplasm|malignant neoplasm of posterior mediastinum|posterior mediastinum cancer											SCTID:448670003|COHD:40490995|ICD10:C38.2|DOID:436|ICD9:164.3|UMLS:C0153502																		owl:Class
MONDO:0003904	biolink:NamedThing	lung occult squamous cell carcinoma	A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	mondoexuq1wtf	occult squamous cell carcinoma of lung|occult squamous cell lung carcinoma|occult squamous cell carcinoma of the lung											UMLS:C1335100|DOID:6510|NCIT:C6686																		owl:Class
MONDO:0030118	biolink:NamedThing	silver-russell syndrome 4		mondoexuq1wtf	silver-russell syndrome 4|SRS4|SILVER-RUSSELL SYNDROME 4											OMIM:618907																		owl:Class
MONDO:0018779	biolink:NamedThing	hypercontractile muscle stiffness syndrome		mondoexuq1wtf												UMLS:CN776841|Orphanet:476403																		owl:Class
MONDO:0014899	biolink:NamedThing	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	mondoexuq1wtf	PEOB4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia, autosomal recessive 4											OMIM:617070|ICD10:G71.3|Orphanet:329314|UMLS:C4310733|DOID:0111516|SCTID:733599009																		owl:Class
MONDO:0019766	biolink:NamedThing	X-linked intellectual disability, Porteous type		mondoexuq1wtf												UMLS:CN206701|Orphanet:93945																		owl:Class
MONDO:0011520	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 2		mondoexuq1wtf	systemic lupus erythematosus, susceptibility to, 2|systemic lupus erythematosus, susceptibility to, type 2|susceptibility to systemic lupus erythematosus 2|SLEB2											OMIM:605218|UMLS:C1854577																		owl:Class
MONDO:0016829	biolink:NamedThing	familial visceral myopathy	A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.	mondoexuq1wtf	familial hollow visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction idiopathic intestinal|visceral myopathy familial|hereditary hollow visceral myopathy											UMLS:CN202146|UMLS:C0266833|Orphanet:2604|GARD:0003443|ICD10:K56.0|ICD9:359.89|SCTID:63684002|UMLS:C1835084																		owl:Class
CL:0002102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009854	biolink:NamedThing	peroneus tertius muscle, absence of		mondoexuq1wtf	peroneus tertius muscle, absence of											OMIM:261400																		owl:Class
MONDO:0016259	biolink:NamedThing	carcinosarcoma of the corpus uteri	An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.	mondoexuq1wtf	uterine corpus malignant mixed mesodermal (Mullerian) tumor|malignant mixed mesodermal tumor of uterine corpus|malignant mixed Müllerian tumor of the corpus uteri|uterine body carcinosarcoma|uterine corpus malignant mixed mesodermal neoplasm|carcinosarcoma of the uterus|malignant mixed mesodermal neoplasm of uterine corpus|carcinosarcoma of the corpus uteri|malignant mixed mesodermal tumor of the uterus|uterine corpus carcinosarcoma|uterine body malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of the uterine body|body of uterus carcinosarcoma|uterine malignant mixed mesodermal tumor|uterine corpus malignant mixed Müllerian tumor|carcinosarcoma of corpus uteri|malignant mixed mesodermal neoplasm of the uterine corpus|corpus uteri malignant mixed mesodermal tumor|uterine mixed Müllerian sarcoma|carcinosarcoma of uterine body|malignant mixed mesodermal tumor of uterus|mixed Mullerian sarcoma of uterus|malignant mixed Mullerian tumor of the corpus uteri|carcinosarcoma of uterine corpus|uterine corpus malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal tumor of the uterine corpus|mixed Mullerian sarcoma of the uterus|uterine body malignant mixed mesodermal tumor|mixed Mullerian cancer of corpus uteri|malignant mixed müllerian tumor of corpus uteri|malignant mixed mesodermal tumor of uterine body|carcinosarcoma of the uterine body|carcinosarcoma of the uterine corpus|carcinosarcoma of uterus|mixed Müllerian sarcoma of the uterus|malignant mixed mesodermal neoplasm of the uterus|mixed Müllerian sarcoma of uterus|malignant mixed mesodermal tumor of the uterine body|uterine mixed Mullerian sarcoma|mixed Müllerian cancer of corpus uteri|uterine malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterus|uterine corpus malignant mixed Müllerian neoplasm|malignant mixed mesodermal neoplasm of uterine body|uterine corpus malignant mixed Mullerian neoplasm|uterine corpus malignant mixed mesodermal tumor|uterine corpus malignant mixed Mullerian tumor|uterine carcinosarcoma											ICD10:C54.9|Orphanet:213610|GARD:0012335|NCIT:C9180																		owl:Class
MONDO:0022759	biolink:NamedThing	trisomy 22	Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).	mondoexuq1wtf	chromosome 22 trisomy											UMLS:C0265490|SCTID:205655003|MESH:C536799|GARD:0005335														https://rarediseases.info.nih.gov/diseases/5335/trisomy-22				owl:Class
MONDO:0008338	biolink:NamedThing	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A		mondoexuq1wtf	arthrogryposis, distal, type 8|DA8|pterygium syndrome, multiple, autosomal dominant|distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant											UMLS:C1867440|MESH:C566739|Orphanet:65743|ICD10:Q79.8|OMIM:178110|GARD:0013058														https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome				owl:Class
MONDO:0035112	biolink:NamedThing	acute myeloid leukemia with BCR-ABL1		mondoexuq1wtf	AML with t(9;22)(q34.1;q11.2)|AML with BCR-ABL1|acute myeloid leukemia with t(9;22)(q34.1;q11.2)											NCIT:C129785|Orphanet:585867																		owl:Class
MONDO:0010591	biolink:NamedThing	fingerprint body myopathy	Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.	mondoexuq1wtf	fingerprint body myopathy											UMLS:C1844560|Orphanet:97232|OMIM:305550|MESH:C564425|GARD:0012720|ICD10:G71.2														https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy				owl:Class
MONDO:0020427	biolink:NamedThing	Laubry-Pezzi syndrome	Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.	mondoexuq1wtf	VSD with aortic insufficiency|ventricular septal defect with aortic insufficiency											ICD10:Q21.0|UMLS:CN207292|Orphanet:99094|SCTID:764955006																		owl:Class
MONDO:0011270	biolink:NamedThing	prostate cancer, hereditary, 8		mondoexuq1wtf	prostate cancer, hereditary, type 8|HPC8|prostate cancer, hereditary, 8|predisposing for prostate cancer											UMLS:C1864472|MESH:C566426|OMIM:602759																		owl:Class
MONDO:0011330	biolink:NamedThing	spinocerebellar ataxia type 10	Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.	mondoexuq1wtf	spinocerebellar ataxia 10|SCA10|spinocerebellar ataxia type 10											MESH:C566874|ICD10:G11.2|SCTID:715754007|OMIM:603516|GARD:0010474|DOID:0050960|UMLS:C4275023|Orphanet:98761|UMLS:C1963674																		owl:Class
MONDO:0008716	biolink:NamedThing	acrogeria	A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.	mondoexuq1wtf	Metageria|Gottron syndrome|acrometageria|acrogeria, Gottron type|familial acrogeria											ICD10:L90.8|UMLS:C0238590|Orphanet:2500|MESH:C538187|GARD:0006543|OMIM:201200|ICD9:259.8|SCTID:238872007|UMLS:C0406584																		owl:Class
MONDO:0000749	biolink:NamedThing	breast abscess	A breast disease characterized by a collection of pus in the breast.	mondoexuq1wtf												DOID:0060323|UMLS:C0151463|SCTID:28432003																		owl:Class
MONDO:0023180	biolink:NamedThing	fragile X syndrome type 3		mondoexuq1wtf												GARD:0002368														https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3				owl:Class
MONDO:0060554	biolink:NamedThing	vertebral, cardiac, renal, and limb defects syndrome 1		mondoexuq1wtf	VCRL1|congenital NAD deficiency Disorder 1|3-hydroxyanthranilic acidemia|vertebral, cardiac, renal, and limb defects syndrome 1											UMLS:C4540004|OMIM:617660																		owl:Class
MONDO:0019167	biolink:NamedThing	immunoglobulin a vasculitis	SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.	mondoexuq1wtf	purpura rheumatica|anaphylactoid purpura|rheumatoid purpura|IgA vasculitis|purpura, Schonlein-Henoch|Henoch-SchC6nlein purpura|vascular purpura|Henoch Schonlein purpura											GARD:0008204|SCTID:86074002|Orphanet:761|ICD10:D69.0																		owl:Class
MONDO:0011130	biolink:NamedThing	sebaceous gland hyperplasia, familial presenile		mondoexuq1wtf	sebaceous gland hyperplasia, familial presenile											GARD:0010031|OMIM:601700|UMLS:C1866428|MESH:C537530														https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile				owl:Class
MONDO:0006766	biolink:NamedThing	gait apraxia	Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.	mondoexuq1wtf	Gait apraxia (finding)											MESH:D020235|DOID:4260|MedDRA:10070635|EFO:1000944|UMLS:C1510417																		owl:Class
MONDO:0014829	biolink:NamedThing	immunodeficiency-centromeric instability-facial anomalies syndrome 4	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.	mondoexuq1wtf	immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|ICF4|ICF syndrome 4											UMLS:C4310798|DOID:0090011|ICD10:D84.8|OMIM:616911																		owl:Class
MONDO:0017528	biolink:NamedThing	polydactyly of an index finger, bilateral		mondoexuq1wtf	preaxial polydactyly type 3, bilateral											UMLS:CN203259|ICD10:Q69.0|Orphanet:295154																		owl:Class
MONDO:0013146	biolink:NamedThing	Brugada syndrome 7	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.	mondoexuq1wtf	BRGDA7|atrial fibrillation, familial, 16|SCN3B Brugada syndrome|Brugada syndrome caused by mutation in SCN3B|Brugada syndrome type 7|Brugada syndrome 7											MESH:C567734|OMIM:613120|ICD10:I49.8|DOID:0110224|UMLS:C2751088																		owl:Class
MONDO:0005710	biolink:NamedThing	composite lymphoma	Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.	mondoexuq1wtf	composite Hodgkin and non-Hodgkin lymphoma|composite lymphoma											MESH:D058617|NCIT:C38661|Orphanet:168966|UMLS:C0545080|DOID:5820|UMLS:C1266191|ICDO:9596/3|EFO:0007215																		owl:Class
MONDO:0010348	biolink:NamedThing	dyslexia, susceptibility to, 9		mondoexuq1wtf	DYX9|dyslexia, susceptibility to, 9											OMIM:300509																		owl:Class
MONDO:0008950	biolink:NamedThing	cerebral sclerosis similar to Pelizaeus-Merzbacher disease		mondoexuq1wtf	cerebral sclerosis similar to Pelizaeus-Merzbacher disease											OMIM:213900|MESH:C536318|GARD:0007348														https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease				owl:Class
CL:0000186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011290	biolink:NamedThing	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability		mondoexuq1wtf	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation											MESH:C566408|UMLS:C1864183|OMIM:603133																		owl:Class
MONDO:0008103	biolink:NamedThing	noduli Cutanei, multiple, with urinary tract abnormalities		mondoexuq1wtf	noduli Cutanei, multiple, with urinary tract abnormalities											UMLS:C1834143|OMIM:163850|MESH:C563512																		owl:Class
MONDO:0010276	biolink:NamedThing	radioulnar synostosis, radial ray abnormalities, and severe malformations in the male		mondoexuq1wtf	radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE											UMLS:C1846147|OMIM:300233|MESH:C564557																		owl:Class
MONDO:0002226	biolink:NamedThing	tuberculous oophoritis	An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.	mondoexuq1wtf												UMLS:C0275932|ICD9:016.6|SCTID:84194006|DOID:2148|ICD9:016.60|ICD10:A18.17																		owl:Class
MONDO:0008422	biolink:NamedThing	autosomal dominant sideroblastic anemia	Autosomal dominant form of sideroblastic anemia.	mondoexuq1wtf	sideroblastic anemia, autosomal dominant|anemia, sideroblastic, 4|anemia, sideroblastic, autosomal dominant|SIDBA4											UMLS:C2674249|MESH:C567160|DOID:0060335|OMIM:182170																		owl:Class
MONDO:0033014	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 4		mondoexuq1wtf	EKVP4|erythrokeratodermia variabilis ET progressiva 4											OMIM:617526|UMLS:C4479620|DOID:0080250																		owl:Class
MONDO:0020415	biolink:NamedThing	Kommerell diverticulum	Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.	mondoexuq1wtf												ICD10:Q25.4|Orphanet:99077|SCTID:74561007																		owl:Class
MONDO:0016786	biolink:NamedThing	partial hydatidiform mole	Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.	mondoexuq1wtf	incomplete hydatidiform mole|partial molar pregnancy|partial hydatid Mole|incomplete hydatid Mole|PHM|incomplete molar pregnancy|partial Mole											UMLS:C0334529|ICD10:O01.1|ONCOTREE:PHM|ICDO:9103/0|Orphanet:254693|NCIT:C4293|SCTID:237250000																		owl:Class
MONDO:0013183	biolink:NamedThing	congenital stationary night blindness 1C	Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.	mondoexuq1wtf	congenital stationary night blindness type 1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness caused by mutation in TRPM1|TRPM1 congenital stationary night blindness|congenital stationary night blindness 1C autosomal recessive|CSNB1C|CSNB, complete, autosomal recessive											MESH:C567704|DOID:0110867|UMLS:C2750747|OMIM:613216																		owl:Class
MONDO:0000784	biolink:NamedThing	melon allergy	A fruit allergy triggered by Cucumis melo plant fruit food product.	mondoexuq1wtf	Cucumis melo fruit allergy											DOID:0060509																		owl:Class
MONDO:0001791	biolink:NamedThing	neonatal urinary tract infectious disease		mondoexuq1wtf	urinary tract infection of newborn											ICD10:P39.3|SCTID:12301009|ICD9:771.82|UMLS:C0235815|DOID:1375																		owl:Class
MONDO:0010411	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 4		mondoexuq1wtf	IHPS4|pyloric stenosis, infantile hypertrophic, 4											MESH:C567472|UMLS:C2678037|OMIM:300711																		owl:Class
MONDO:0002272	biolink:NamedThing	polyclonal hypergammaglobulinemia	A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.	mondoexuq1wtf	polyclonal hypergammaglobulinemia					Editor note: check HP:0003459 Polyclonal elevation of IgM						ICD10:D89.0|DOID:2344|UMLS:C0154254|SCTID:190808009|ICD9:273.0|NCIT:C35885|COHD:432587																		owl:Class
MONDO:0013798	biolink:NamedThing	chromosome 16q22 deletion syndrome		mondoexuq1wtf	chromosome 16q22 deletion syndrome											DOID:0060401|OMIM:614541|UMLS:C3281152																		owl:Class
MONDO:0005182	biolink:NamedThing	serous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.	mondoexuq1wtf												EFO:0002510																		owl:Class
MONDO:0004485	biolink:NamedThing	interstitial myocarditis	Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.	mondoexuq1wtf												UMLS:C0027060|NCIT:C35786|SCTID:37925008|DOID:817																		owl:Class
MONDO:0007900	biolink:NamedThing	nonsyndromic congenital nail disorder 3	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.	mondoexuq1wtf	Gorlin Bushkell Jensen syndrome|nail disorder, nonsyndromic congenital, 3|leukonychia totalis and/or partialis|leukonychia Striatus|nail disorder, nonsyndromic congenital, type 3|porcelain nails|inherited isolated nail anomaly caused by mutation in PLCD1|PLCD1 inherited isolated nail anomaly|leukonychia totalis multiple sebaceous cysts renal calculi|leukonychia punctata|NDNC3|nonsyndromic congenital nail disorder type 3											SCTID:74102009|ICD9:703.8|GARD:0002555|MESH:C537289|OMIM:151600|DOID:0080081														https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome				owl:Class
MONDO:0020442	biolink:NamedThing	left superior vena cava persisting to left-sided atrium		mondoexuq1wtf	left superior caval vein persisting to left-sided atrium|left SVC persisting to left-sided atrium											ICD10:Q26.1|Orphanet:99111|ICD9:747.49|SCTID:445436005																		owl:Class
MONDO:0023288	biolink:NamedThing	green sandford davison syndrome		mondoexuq1wtf	anal anomalies, renal tract abnormalities, genital malformations, and syndactyly|renal and anogenital malformations with syndactyly											MESH:C538221|GARD:0002447|UMLS:C2931777														https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome				owl:Class
MONDO:0012365	biolink:NamedThing	gallbladder disease 2		mondoexuq1wtf	gallbladder disease 2|GBD2											MESH:C563687|UMLS:C1835925|OMIM:609918																		owl:Class
MONDO:0002351	biolink:NamedThing	glottis cancer	A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.	mondoexuq1wtf	malignant neoplasm of glottis|cancer of glottis|glottis cancer|Ca larynx - glottis|malignant tumor of glottis|malignant glottis neoplasm|malignant glottis tumor|malignant tumor of the glottis|malignant neoplasm of the glottis											SCTID:187841006|NCIT:C3544|DOID:2595|ICD9:161.0|UMLS:C0153483|ICD10:C32.0|COHD:4092211																		owl:Class
MONDO:0010986	biolink:NamedThing	autosomal recessive nonsyndromic deafness 9	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.	mondoexuq1wtf	auditory neuropathy, nonsyndromic recessive|OTOF autosomal recessive nonsyndromic deafness|auditory neuropathy, autosomal recessive, 1|DFNB9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|autosomal recessive nonsyndromic deafness type 9|deafness, autosomal recessive 9|NRSD9|autosomal recessive deafness 9|neurosensory nonsyndromic recessive deafness 9|deafness, autosomal recessive type 9											DOID:0110535|ICD10:H90.3|OMIM:601071																		owl:Class
MONDO:0004330	biolink:NamedThing	leptomeningeal sarcoma	A sarcoma arising from the leptomeninges.	mondoexuq1wtf	sarcoma of the leptomeninges|leptomeningeal sarcoma|sarcoma, leptomeningeal, malignant|leptomeninx sarcoma|sarcoma, meningeal|sarcoma of leptomeninges|sarcoma of leptomeninx|leptomeninges sarcoma											DOID:7689|NCIT:C8312|UMLS:C1384416																		owl:Class
MONDO:0003762	biolink:NamedThing	malignant leptomeningeal tumor	A primary or metastatic malignant tumor involving the leptomeninges.	mondoexuq1wtf	malignant leptomeninx neoplasm|malignant tumor of leptomeninges|malignant neoplasm of leptomeninx|malignant neoplasm of leptomeninges|malignant neoplasm of the leptomeninges|malignant leptomeningeal neoplasm|leptomeninx cancer|malignant tumor of the leptomeninges|cancer of leptomeninx|malignant leptomeningeal tumor|leptomeningeal cancer											UMLS:C1334596|NCIT:C8506|DOID:6086																		owl:Class
MONDO:0023472	biolink:NamedThing	chondrodysplasia situs inversus imperforate anus polydactyly		mondoexuq1wtf	impossible syndrome											GARD:0001299														https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly				owl:Class
MONDO:0007890	biolink:NamedThing	lentiginosis, centrofacial neurodysraphic		mondoexuq1wtf	lentiginosis, Touraine type|lentiginosis, centrofacial neurodysraphic											MESH:C563630|OMIM:151000|UMLS:C1835484																		owl:Class
MONDO:0003967	biolink:NamedThing	synchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.	mondoexuq1wtf	synchronous multifocal osteosarcoma											NCIT:C6471|UMLS:C1336544|DOID:6696																		owl:Class
MONDO:0015935	biolink:NamedThing	extragonadal germinoma		mondoexuq1wtf												MedDRA:10018207|Orphanet:182127																		owl:Class
MONDO:0022779	biolink:NamedThing	cleft lip palate oligodontia syndactyly pili torti		mondoexuq1wtf												GARD:0001381														https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti				owl:Class
MONDO:0013793	biolink:NamedThing	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency		mondoexuq1wtf	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency											OMIM:614520|UMLS:C3281106																		owl:Class
MONDO:0010516	biolink:NamedThing	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		mondoexuq1wtf	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis|MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN											OMIM:300990|UMLS:C4310810																		owl:Class
MONDO:0032860	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 72		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72|MRT72|Mental Retardation, Autosomal Recessive 72											OMIM:618665																		owl:Class
MONDO:0056818	biolink:NamedThing	skin adenosquamous carcinoma	An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.	mondoexuq1wtf	skin adenosquamous carcinoma|skin adenosquamous cancer											UMLS:C1710103|NCIT:C54250																		owl:Class
MONDO:0007307	biolink:NamedThing	Charcot-Marie-Tooth disease type 1B	A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.	mondoexuq1wtf	Charcot-Marie-Tooth disease, demyelinating, type 1B|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|CMT1B|HMSN1|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B|hereditary motor and sensory neuropathy 1|HMSN IB|Charcot-Marie-Tooth neuropathy, type 1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|MPZ Charcot-Marie-Tooth disease type 1|hereditary motor and sensory neuropathy IB|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|HMSN 1B|Charcot-Marie-Tooth neuropathy type 1B|hereditary motor and sensory neuropathy 1B|Charcot Marie Tooth disease type 1B|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|HMSN1B|CMT 1B											DOID:0110152|Orphanet:101082|GARD:0001246|OMIM:118200|UMLS:C0270912|ICD10:G60.0|NCIT:C118782																		owl:Class
MONDO:0009300	biolink:NamedThing	Perrault syndrome 1	Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.	mondoexuq1wtf	Perrault syndrome caused by mutation in HSD17B4|gonadal dysgenesis, 20 type, with deafness|ovarian dysgenesis with sensorineural deafness|Perrault syndrome 1|PRLTS1|HSD17B4 Perrault syndrome|Perrault syndrome type 1											OMIM:233400																		owl:Class
MONDO:0014002	biolink:NamedThing	autosomal dominant nocturnal frontal lobe epilepsy 5	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.	mondoexuq1wtf	epilepsy, nocturnal frontal lobe, 5|autosomal dominant nocturnal frontal lobe epilepsy type 5|nocturnal frontal lobe epilepsy 5|ENFL5|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|epilepsy, nocturnal frontal lobe, type 5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy											UMLS:C3554306|OMIM:615005|DOID:0060686																		owl:Class
MONDO:0024892	biolink:NamedThing	soft tissue amyloid neoplasm	A soft tissue neoplasm composed of acellular amyloid material.	mondoexuq1wtf	amyloid neoplasm|amyloid tumor|soft tissue amyloid tumor|amyloid tumor (morphologic abnormality)|soft tissue amyloid neoplasm											UMLS:C1706802|DOID:6755|UMLS:C0333572|NCIT:C8323|ICD9:714.32																		owl:Class
MONDO:0001562	biolink:NamedThing	displacement of cardia through esophageal hiatus		mondoexuq1wtf	congenital hiatus hernia											SCTID:47028006|ICD9:750.6|COHD:198246|DOID:12641|ICD10:Q40.1																		owl:Class
MONDO:0007721	biolink:NamedThing	hiatus hernia	Herniation of the upper part of the stomach through the diaphragm.	mondoexuq1wtf	hiatus hernia|hernia, hiatus|hiatus hernia (disease)|hiatal hernia|diaphragmatic - hiatus -hernia		hiatus hernia (disease)									ICD10:K44|MESH:D006551|DOID:12642|HP:0002036|OMIM:142400|NCIT:C98945|SCTID:84089009																		owl:Class
MONDO:0008063	biolink:NamedThing	nasal alar collapse, bilateral		mondoexuq1wtf	nasal alar collapse, bilateral											UMLS:C1834371|MESH:C563533|OMIM:161470																		owl:Class
MONDO:0011667	biolink:NamedThing	maturity-onset diabetes of the young type 4	Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.	mondoexuq1wtf	maturity-onset diabetes of the young, type 4|MODY type 4|PDX1-associated monogenic diabetes|MODY insulin promoter factor-1 related|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|MODY4|PDX1 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 4|type 4 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 4|MODY, type 4											SCTID:609571007|OMIM:606392|GARD:0010659|DOID:0111103|MESH:C563451|NCIT:C129746														https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4				owl:Class
MONDO:0014920	biolink:NamedThing	patterned macular dystrophy 3	Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.	mondoexuq1wtf	MAPKAPK3 patterned macular dystrophy|macular dystrophy, patterned, type 3|patterned macular dystrophy type 3|Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, 3|MCRPE|patterned macular dystrophy caused by mutation in MAPKAPK3|MDPT3											DOID:0060865|Orphanet:466718|UMLS:C4310713|OMIM:617111|ICD10:H35.5																		owl:Class
MONDO:0013080	biolink:NamedThing	primary biliary cholangitis 3		mondoexuq1wtf	biliary cirrhosis, primary, 3|PBC3											UMLS:C2751695|MESH:C567816|OMIM:613008																		owl:Class
MONDO:0008884	biolink:NamedThing	oculoosteocutaneous syndrome	Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	mondoexuq1wtf	anodontia-hypotrichosis syndrome|BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM|oculoosteocutaneous syndrome											OMIM:211370|SCTID:722061006|Orphanet:2713|MESH:C565893|ICD10:Q87.5|UMLS:C1859385																		owl:Class
MONDO:0008837	biolink:NamedThing	ataxia, deafness, and cardiomyopathy		mondoexuq1wtf	ataxia, deafness, and cardiomyopathy											OMIM:208750|UMLS:C1859645|MESH:C565932																		owl:Class
MONDO:0021758	biolink:NamedThing	acquired agranulocytosis	Agranulocytosis that is autoimmune in origin.	mondoexuq1wtf	agranulocytosis, acquired|granulocytopenia, primary|neutropenia, malignant|agranulocytic angina											SCTID:72050006|GARD:0005717|MESH:C538171														https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis				owl:Class
MONDO:0010185	biolink:NamedThing	methylmalonic aciduria and homocystinuria type cblD	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.	mondoexuq1wtf	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|cblD methylmalonic acidemia and homocystinuria|MAHCD|methylmalonic acidemia, Cblh type|methylmalonic acidemia with homocystinuria type cblD|cblD - cobalamin locus d|methylmalonic acidemia and homocystinuria, cblD type|m0e.321 cobalamin locus d variant|Mehtylmalonic acidemia with homocystinuria cbI d|methylmalonic aciduria, Cblh type|cblD defect|methylmalonic acidemia, Cblh type, formerly|cobalamin D deficiency|methylmalonic aciduria, cblD type, variant 2|methylmalonic acidemia with homocystinuria, type cblD|methylmalonic aciduria with homocystinuria, type cblD|homocystinuria, cblD type, variant 1, included|homocystinuria, cblD type, variant 1|methylmalonic aciduria and homocystinuria, cblD type|methylmalonic aciduria, cblD type, variant 2, included|cobalamin D defect|cobalamin d disease|methylmalonic aciduria, Cblh type, formerly											GARD:0003582|SCTID:31220004|ICD10:E72.1|DOID:0050716|OMIM:277410|Orphanet:79283|UMLS:CN205879|MESH:C564743																		owl:Class
MONDO:0002509	biolink:NamedThing	non-specific granulomatous orchitis	Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.	mondoexuq1wtf	granulomatous orchitis											SCTID:50390006|UMLS:C0436545|DOID:3089|NCIT:C27162																		owl:Class
MONDO:0001624	biolink:NamedThing	acute sphenoidal sinusitis	Acute form of sphenoid sinusitis.	mondoexuq1wtf	sphenoidal sinus -acute|sphenoid sinusitis, acute|acute sphenoid sinusitis											SCTID:77919000|ICD10:J01.30|ICD9:461.3|COHD:137900|UMLS:C0155807|ICD10:J01.3|DOID:13046																		owl:Class
MONDO:0017817	biolink:NamedThing	primary localized amyloidosis	Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.	mondoexuq1wtf	localized AL amyloidosis											Orphanet:314709|ICD10:E85.4																		owl:Class
MONDO:0008194	biolink:NamedThing	Paramolar tubercle of bolk		mondoexuq1wtf	bolk cusp|Paramolar tubercle of bolk											OMIM:168200|SCTID:78305006																		owl:Class
MONDO:0023018	biolink:NamedThing	dupont sellier chochillon syndrome		mondoexuq1wtf												GARD:0001983														https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome				owl:Class
MONDO:0020439	biolink:NamedThing	patent foramen ovale	A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.	mondoexuq1wtf	patent foramen ovale (disease)|atrial septal defect within oval fossa|foramen ovale patent|defect, patent or persistent, ostium secundum|persistent ostium secundum|patent foramen ovale|ostium secundum type atrial septal defect		patent foramen ovale (disease)									DOID:13620|UMLS:C0016522|ICD10:Q21.1|MESH:D054092|Orphanet:99108|MedDRA:10016982|NCIT:C34619|HP:0001655																		owl:Class
MONDO:0001707	biolink:NamedThing	cardiac sarcoidosis	Sarcoidosis affecting the tissues of the heart.	mondoexuq1wtf	heart sarcoidosis|sarcoidosis of heart											UMLS:C0392077|SCTID:75403004|NCIT:C35589|DOID:13405																		owl:Class
MONDO:0018877	biolink:NamedThing	retinitis punctata albescens		mondoexuq1wtf												Orphanet:52427|SCTID:715562001|ICD10:H35.5|UMLS:CN205224																		owl:Class
MONDO:0010584	biolink:NamedThing	dyskeratosis congenita, X-linked	X-linked form of dyskeratosis congenita.	mondoexuq1wtf	dyskeratosis congenita, X-linked|Zinsser-Cole-Engman syndrome|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|Hoyeraal Hreidarsson syndrome|X-linked dyskeratosis congenita|cerebellar hypoplasia with pancytopenia|dyskeratosis congenita X-linked|DKCX											SCTID:708536001|OMIM:305000|NCIT:C126352|GARD:0002007|DOID:0070025																		owl:Class
MONDO:0032842	biolink:NamedThing	siddiqi syndrome		mondoexuq1wtf	Deafness, Dystonia, Developmental Delay, and Poor Growth|SIDDIS|SIDDIQI SYNDROME											OMIM:618635																		owl:Class
MONDO:0013449	biolink:NamedThing	Leber congenital amaurosis 7	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.	mondoexuq1wtf	CRX Leber congenital amaurosis|Leber congenital amaurosis type 7|LCA7|Leber congenital amaurosis caused by mutation in CRX|Leber congenital amaurosis 7											DOID:0110333|GARD:0010880|UMLS:C3151192|OMIM:613829|ICD10:H35.5														https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7				owl:Class
MONDO:0003651	biolink:NamedThing	macrotrabecular hepatoblastoma	A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.	mondoexuq1wtf												DOID:5798|UMLS:C1334543|NCIT:C7095																		owl:Class
MONDO:0010875	biolink:NamedThing	pachydermodactyly, familial		mondoexuq1wtf	pachydermodactyly, familial											UMLS:C1838218|MESH:C563947|OMIM:600356																		owl:Class
MONDO:0010915	biolink:NamedThing	autosomal dominant nonsyndromic deafness 4A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.	mondoexuq1wtf	deafness, autosomal dominant type 4A|deafness, autosomal dominant 4|deafness, autosomal dominant 4A|MYH14 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 4A|autosomal dominant nonsyndromic deafness type 4A|DFNA4A|autosomal dominant nonsyndromic deafness caused by mutation in MYH14											ICD10:H90.3|MESH:C563460|UMLS:C1833503|DOID:0110573|OMIM:600652																		owl:Class
MONDO:0017890	biolink:NamedThing	tubulocystic renal cell carcinoma	Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.	mondoexuq1wtf	Tubulocystic renal cell cancer											ICD10:C64|Orphanet:319325|UMLS:C4288091|NCIT:C126303|SCTID:733603009																		owl:Class
MONDO:0004728	biolink:NamedThing	diabetic macular edema		mondoexuq1wtf												UMLS:C0730285|COHD:380097|SCTID:312912001|ICD9:362.07|DOID:9191																		owl:Class
MONDO:0008524	biolink:NamedThing	syringomas, multiple		mondoexuq1wtf	syringomas, multiple											UMLS:C1861302|OMIM:186600|MESH:C566085																		owl:Class
MONDO:0002096	biolink:NamedThing	malignant conjunctival melanoma	A malignant melanoma within the conjunctiva of the eye.	mondoexuq1wtf	melanoma of conjunctiva|malignant melanoma of the conjunctiva|conjunctiva melanoma|conjunctiva melanoma (disease)|CM|melanoma (disease) of conjunctiva|malignant melanoma of conjunctiva|melanoma of the conjunctiva|conjunctival melanoma|malignant conjunctiva melanoma|malignant conjunctival melanoma											DOID:1751|EFO:1000204|UMLS:C0346360|SCTID:255004001|GARD:0010744|NCIT:C4550|ONCOTREE:CM																		owl:Class
MONDO:0000968	biolink:NamedThing	kidney lipoma	A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.	mondoexuq1wtf	lipoma of the kidney|renal lipoma|lipoma of kidney|kidney lipoma											NCIT:C5101|DOID:10194|UMLS:C1335744																		owl:Class
MONDO:0020461	biolink:NamedThing	epiblepharon		mondoexuq1wtf												ICD9:743.63|SCTID:253212001|Orphanet:99169|ICD10:Q10.3																		owl:Class
MONDO:0023757	biolink:NamedThing	meralgia paresthetica	Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.	mondoexuq1wtf	bernhardt-rot syndrome|bernhardt's paresthesia|meralgia paraesthetica familial (type)|Bernhardt-Roth syndrome|entrapment of lateral cutaneous nerve of thigh|lateral femoral cutaneous nerve entrapment|lateral cutaneous femoral nerve of thigh syndrome|compression of lateral cutaneous femoral nerve of thigh											ICD9:355.1|GARD:0009417|UMLS:C0152110|SCTID:85007004|MESH:C537458														https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica				owl:Class
MONDO:0011805	biolink:NamedThing	asthma-related traits, susceptibility to, 1	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.	mondoexuq1wtf	inherited susceptibility to asthma caused by mutation in PTGDR|asthma-related traits, susceptibility to, 1|ASRT1|AS1|asthma-related traits, susceptibility to, type 1|PTGDR inherited susceptibility to asthma											OMIM:607277|UMLS:C1846534																		owl:Class
MONDO:0016841	biolink:NamedThing	20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	mondoexuq1wtf	Del(20)(p12.3)|monosomy 20p12.3											SCTID:719650004|GARD:0012492|UMLS:C4304539|Orphanet:261295|UMLS:CN202180|ICD10:Q93.5														https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome				owl:Class
MONDO:0004266	biolink:NamedThing	anal gland adenocarcinoma	An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.	mondoexuq1wtf	adenocarcinoma of anal ducts|adenocarcinoma of anal gland|anal glands adenocarcinoma|adenocarcinoma of the anal gland											ONCOTREE:AGA|UMLS:C1266027|ICDO:8215/3|DOID:7531|NCIT:C5609																		owl:Class
MONDO:0001568	biolink:NamedThing	mixed receptive-expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	mondoexuq1wtf												ICD9:315.32|ICD10:F80.2|NCIT:C92563|DOID:12685|COHD:441277|SCTID:25766007																		owl:Class
MONDO:0008925	biolink:NamedThing	cataract 46 juvenile-onset	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.	mondoexuq1wtf	juvenilae cataract Hutterite type|cataract, juvenile, Hutterite type|LEMD2 early-onset non-syndromic cataract|cataract, congenital or juvenile|CTRCT46|early-onset non-syndromic cataract caused by mutation in LEMD2|cataract Hutterite type|cataract 46, juvenile-onset					Not in the OMIM series.						MESH:C538286|Orphanet:98987|ICD10:Q12.0|DOID:0110243|GARD:0001150|OMIM:212500														https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type				owl:Class
MONDO:0006884	biolink:NamedThing	panophthalmitis	Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.	mondoexuq1wtf												COHD:438738|MedDRA:10033683|MESH:D010202|EFO:1001081|SCTID:33382000|DOID:13732|ICD9:360.02|UMLS:C0030332																		owl:Class
MONDO:0023599	biolink:NamedThing	mesomelic dysplasia	A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).	mondoexuq1wtf	mesomelic dysplasia|Mesomelic dwarf|mesomelic dysplasias|Mesomelic dysplasia|Mesomelic Dysplasia											UMLS:C0410536|SCTID:205473008|NCIT:C121156																		owl:Class
MONDO:0010649	biolink:NamedThing	isolated congenital megalocornea	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.	mondoexuq1wtf	congenital anterior megalophthalmia|MGC1|Mgcn|megalocornea											ICD10:Q15.8|Orphanet:91489|SCTID:734026006|GARD:0012648|OMIM:309300																		owl:Class
MONDO:0035124	biolink:NamedThing	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies		mondoexuq1wtf												Orphanet:589608																		owl:Class
MONDO:0000297	biolink:NamedThing	baylisascariasis	An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.	mondoexuq1wtf	Baylisascaris procyonis infectious disease|raccoon roundworm infection|Baylisascaris procyonis disease or disorder|Baylisascaris procyonis caused disease or disorder											NCIT:C128397|DOID:0050259|UMLS:C0277150|UMLS:C0162626																		owl:Class
MONDO:0011749	biolink:NamedThing	oculocutaneous albinism type 1B	Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.	mondoexuq1wtf	oculocutaneous albinism type IB|Yellow albinism|oculocutaneous albinism, Amish type|Yellow mutant albinism|platinum oculocutaneous albinism|albinism, oculocutaneous, type I, temperature-sensitive|albinism, Yellow mutant type|oculocutaneous albinism, type 1B|Yellow oculocutaneous albinism|OCA1B|albinism, oculocutaneous, type 1B|Oca1-Ts|albinism, oculocutaneous, type IB											MESH:C537729|ICD10:E70.3|DOID:0070095|OMIM:606952|GARD:0000594|UMLS:C1847024|Orphanet:79434														https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b				owl:Class
MONDO:0001428	biolink:NamedThing	pylorospasm		mondoexuq1wtf												SCTID:335002|ICD9:537.81|COHD:194071|UMLS:C0152163|DOID:12072																		owl:Class
MONDO:0022815	biolink:NamedThing	congenital absence of the sternocleidomastoid muscle		mondoexuq1wtf												UMLS:C2931075|MESH:C535977|GARD:0009972														https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle				owl:Class
MONDO:0030963	biolink:NamedThing	Li-Campeau syndrome		mondoexuq1wtf	LICAS											OMIM:619189																		owl:Class
MONDO:0007520	biolink:NamedThing	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.	mondoexuq1wtf	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|EEC1|EEC syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|EEC											DOID:0060784|MESH:C565062|OMIM:129900|ICD10:Q82.4																		owl:Class
MONDO:0019394	biolink:NamedThing	Senior-Boichis syndrome	Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.	mondoexuq1wtf	nephronophthisis-hepatic fibrosis syndrome|Boichis disease											UMLS:CN206093|Orphanet:84081|SCTID:717187000																		owl:Class
MONDO:0011471	biolink:NamedThing	inflammatory bowel disease 3	An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.	mondoexuq1wtf	inflammatory bowel disease 3|inflammatory bowel disease type 3|IBD3											DOID:0110891|MESH:C565764|UMLS:C1858303|OMIM:604519																		owl:Class
MONDO:0001765	biolink:NamedThing	polyneuropathy in collagen vascular disease		mondoexuq1wtf												ICD9:357.4|UMLS:C0154759|ICD9:357.1|DOID:13649|SCTID:193177003|COHD:375260																		owl:Class
MONDO:0008792	biolink:NamedThing	familial angiolipomatosis	Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.	mondoexuq1wtf	angiolipomatosis, familial|angiolipoma Microthromboticum											OMIM:206550|UMLS:C1859784|ICD10:D17.9|Orphanet:199279|MESH:C565951																		owl:Class
MONDO:0005505	biolink:NamedThing	dysembryoplastic neuroepithelial tumor	A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B	mondoexuq1wtf	dysembryoplastic neuroepithelial tumor (morphologic abnormality)|dysembryoplastic neuroepithelial neoplasm|DNT|DNET											Orphanet:251946|NCIT:C9505|ICDO:9413/0|DOID:2679|GARD:0010640|ONCOTREE:DNT|SCTID:87211000119104|EFO:0005551|UMLS:C1266177														https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor				owl:Class
MONDO:0000489	biolink:NamedThing	diabetic encephalopathy	A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.	mondoexuq1wtf												DOID:0050850																		owl:Class
MONDO:0005512	biolink:NamedThing	malignant peritoneal mesothelioma	An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.	mondoexuq1wtf	advanced malignant peritoneal mesothelioma|malignant mesothelioma (disease) of peritoneum|malignant mesothelioma of peritoneum|primary malignant peritoneal mesothelioma|peritoneum malignant mesothelioma (disease)|advanced malignant mesothelioma of the peritoneum|advanced malignant mesothelioma of peritoneum|advanced peritoneal malignant mesothelioma|diffuse malignant peritoneal mesothelioma|peritoneal mesothelioma|peritoneal mesothelioma (disease), malignant|malignant peritoneal mesothelioma, advanced											Orphanet:168811|ICD10:C45.1|NCIT:C8704|MedDRA:10056558|EFO:0005567|DOID:1788																		owl:Class
MONDO:0007578	biolink:NamedThing	esterase B		mondoexuq1wtf	ESB|esterase type B|esterase B					Editor note: consider obsoleting						OMIM:133260																		owl:Class
MONDO:0008527	biolink:NamedThing	tarsal coalition		mondoexuq1wtf	tarsal fusion|tarsal coalition											SCTID:27173008|OMIM:186850|ICD9:755.67																		owl:Class
MONDO:0043162	biolink:NamedThing	pagon stephan syndrome		mondoexuq1wtf	septo-optic dysplasia with digital anomalies											UMLS:C2931733|MESH:C538100|GARD:0004195																		owl:Class
MONDO:0006871	biolink:NamedThing	non-gestational choriocarcinoma	A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.	mondoexuq1wtf												EFO:1001064|UMLS:C1135873|MESH:D031954|DOID:4320																		owl:Class
MONDO:0017424	biolink:NamedThing	non-syndromic brachydactyly		mondoexuq1wtf	brachydactyly|nonsyndromic brachydactyly|isolated brachydactyly					Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy						SCTID:43476002|Orphanet:294937																		owl:Class
MONDO:0001283	biolink:NamedThing	endosalpingiosis	A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.	mondoexuq1wtf	endosalpingiosis											DOID:11427|UMLS:C0269106|NCIT:C40121|SCTID:55850004																		owl:Class
MONDO:0018048	biolink:NamedThing	heparin-induced thrombocytopenia	Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.	mondoexuq1wtf	heparin-induced thrombocytopenia (disease)|HIT|heparin-induced thrombocytopenia|HAT|heparin-induced thrombocytopenia type 2|heparin-associated thrombocytopenia		heparin-induced thrombocytopenia (disease)									SCTID:73397007|COHD:433749|MedDRA:10062506|ICD9:289.84|HP:0011874|GARD:0002650|Orphanet:3325|UMLS:C0272285|ICD10:D69.5																		owl:Class
MONDO:0022634	biolink:NamedThing	camptodactyly vertebral fusion		mondoexuq1wtf	camptodactyly and sacral vertebral fusion|camptodactyly and sacral vertebral fusion (subtype)											UMLS:C2931682|MESH:C537973|GARD:0001070														https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion				owl:Class
MONDO:0011013	biolink:NamedThing	autosomal dominant hypocalcemia 1	Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.	mondoexuq1wtf	autosomal dominant hypocalcemia type 1|hypercalciuric hypocalcemia|hypocalcemia, autosomal dominant 1|HYPOC1|hypocalcemia, familial|CASR autosomal dominant hypocalcemia|autosomal dominant hypocalcemia caused by mutation in CASR|hypocalcemia, autosomal dominant 1, with Bartter syndrome|hypocalcemia, autosomal dominant type 1											DOID:0090107|OMIM:601198																		owl:Class
MONDO:0010580	biolink:NamedThing	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	mondoexuq1wtf	diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|autoimmunity-immunodeficiency syndrome x-linked|DMSD|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|IPEX syndrome|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|polyendocrinopathy, immune dysfunction and diarrhea x-linked|autoimmunity-immunodeficiency syndrome, X-linked|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|islets of Langerhans, absence of|IDDM secretory diarrhea syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|XPID|X linked polyendocrinopathy|immune dysfunction and diarrhea syndrome|IPEX|Iddm-secretory diarrhea syndrome|IDDM-secretory diarrhea syndrome|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|XLAAD|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|X-linked autoimmunity-allergic dysregulation syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|autoimmune enteropathy type 1											DOID:0090110|ICD10:E31.0|ICD9:250.81|Orphanet:37042|NCIT:C131009|MESH:C580192|OMIM:304790|GARD:0001850|SCTID:237618001|GARD:1850																		owl:Class
MONDO:0013849	biolink:NamedThing	microcephaly 8, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.	mondoexuq1wtf	MCPH8|autosomal recessive primary microcephaly caused by mutation in CEP135|CEP135 autosomal recessive primary microcephaly|microcephaly 8, primary, autosomal recessive											DOID:0070282|OMIM:614673|UMLS:C3553414																		owl:Class
MONDO:0020558	biolink:NamedThing	autosomal dominant Charcot-Marie-Tooth disease type 2K	Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.	mondoexuq1wtf	Charcot-Marie-Tooth disease type 2K|CMT2K											UMLS:CN207468|GARD:0009199|Orphanet:99944|NCIT:C133886|ICD10:G60.0|SCTID:719512003|UMLS:C1842984																		owl:Class
MONDO:0015466	biolink:NamedThing	cranio-osteoarthropathy	Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	mondoexuq1wtf	Currarino disease|cranio osteoarthropathy|Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy											ICD10:M89.4|Orphanet:1525|UMLS:CN199601|SCTID:720753002|GARD:0001564														https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy				owl:Class
MONDO:0000224	biolink:NamedThing	acquired carbohydrate metabolism disease	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.	mondoexuq1wtf	carbohydrate metabolism disease											DOID:0050013																		owl:Class
MONDO:0016563	biolink:NamedThing	progressive supranuclear palsy-corticobasal syndrome	PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	mondoexuq1wtf	PSP-corticobasal syndrome|PSP-CBS											Orphanet:240103|ICD10:G23.1|UMLS:CN201681																		owl:Class
MONDO:0018547	biolink:NamedThing	acute tricyclic antidepressant poisoning	Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.	mondoexuq1wtf												ICD10:T43.0|Orphanet:43117|UMLS:CN227537																		owl:Class
MONDO:0004574	biolink:NamedThing	pyridoxine deficiency anemia	Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.	mondoexuq1wtf	deficiency, B6 vitamin|deficiency, vitamin B6|deficiency, vitamin B 6|B6 vitamin deficiency|vitamin B6 deficiencies|vitamin B6 deficiency|pyridoxine Deficincy|deficiency, pyridoxine|B6 deficiency, vitamin|deficiencies, B6 vitamin|pyridoxine deficiency|B6 deficiencies, vitamin|vitamin deficiency, B6|deficiencies, vitamin B6|B6 vitamin deficiencies|vitamin deficiencies, B6|vitamin B6 deficiency syndrome											DOID:8455|MESH:D026681|SCTID:86448001|ICD9:281.8|ICD9:266.1|GARD:0004616|ICD10:E53.1|NCIT:C85221																		owl:Class
MONDO:0018600	biolink:NamedThing	congenital abducens nerve palsy		mondoexuq1wtf	congenital CNVI palsy|benign congenital sixth cranial nerve palsy											ICD10:Q07.8|Orphanet:440233																		owl:Class
MONDO:0008825	biolink:NamedThing	arthrogryposis multiplex congenita-whistling face syndrome	Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	mondoexuq1wtf	arthrogryposis, whistling face, and developmental retardation|Illum syndrome|lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|ILLUM syndrome|arthrogryposis multiplex congenita whistling face|arthrogryposis, whistling face, and developintellectual disability											GARD:0000792|Orphanet:1150|OMIM:208155|SCTID:720514008|MESH:C538401|UMLS:C1859711|ICD10:Q87.8																		owl:Class
MONDO:0011367	biolink:NamedThing	Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.	mondoexuq1wtf	acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia											GARD:0010076|OMIM:603740|UMLS:C1863556|MESH:C538181														https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia				owl:Class
MONDO:0007250	biolink:NamedThing	camptodactyly of fingers	Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.	mondoexuq1wtf	minor streblomicrodactyly, familial|camptodactyly and knuckle pads|streblodactyly|CAMPD1|camptodactyly 1|crooked little finger, familial|familial streblodactyly											ICD9:755.59|SCTID:29271008|GARD:0009448|OMIM:114200|MESH:C536852|MESH:C567780|Orphanet:295016|ICD10:Q68.1														https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly				owl:Class
MONDO:0004155	biolink:NamedThing	adult central nervous system embryonal carcinoma	A embryonal carcinoma of the central nervous system that occurs in an adult.	mondoexuq1wtf	embryonal carcinoma of the central nervous system of adults|embryonal carcinoma of adult central nervous system|embryonal carcinoma of adult CNS|adult central nervous system embryonal carcinoma|Central nervous system embryonal carcinoma|adult CNS embryonal carcinoma|embryonal carcinoma of the adult CNS|adult embryonal carcinoma of the central nervous system|embryonal carcinoma of the adult central nervous system											NCIT:C5790|UMLS:C1370503|DOID:7233																		owl:Class
MONDO:0001369	biolink:NamedThing	chronic laryngitis	Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.	mondoexuq1wtf	laryngitis, chronic											SCTID:29951006|DOID:11797|COHD:24970|ICD9:476.0|ICD10:J37.0|UMLS:C0155836|NCIT:C26975																		owl:Class
MONDO:0012785	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 3		mondoexuq1wtf	IHPS3|pyloric stenosis, infantile hypertrophic, 3											OMIM:612017|MESH:C567435|UMLS:C2677588																		owl:Class
MONDO:0022749	biolink:NamedThing	non-neoplastic nevus	A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.	mondoexuq1wtf	non-neoplastic nevus|Non-neoplastic nevus|Non-Neoplastic Nevus											NCIT:C3937|UMLS:C0265027|ICD9:448.1|SCTID:195381005																		owl:Class
MONDO:0012713	biolink:NamedThing	spondylometaphyseal dysplasia, East African type		mondoexuq1wtf	spondylometaphyseal dysplasia East-African type|spondylometaphyseal dysplasia, East African type											GARD:0004992|MESH:C535796|OMIM:611702|UMLS:C2673686														https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type				owl:Class
MONDO:0007868	biolink:NamedThing	hyperekplexia 1	A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.	mondoexuq1wtf	hyperekplexia, hereditary type 1|Stiff-Person syndrome, congenital|exaggerated startle reaction|hyperekplexia type 1|startle reaction, exaggerated|Sthe|hyperekplexia, hereditary 1|HKPX1|Kok disease|hyperekplexia 1|Stiff-Man syndrome, congenital|startle disease, familial|Stiff-baby syndrome											ICD10:G25.8|OMIM:149400|DOID:0060696																		owl:Class
MONDO:0008493	biolink:NamedThing	overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.	mondoexuq1wtf	OHS|OHST|stomatocytosis I|OVERHYDRATED hereditary stomatocytosis|Potassium sodium disorder of erythrocyte|Potassium-sodium disorder of erythrocyte|stomatocytosis 1|overhydrated hereditary stomatocytosis											SCTID:722125003|UMLS:C1861455|MESH:C566111|GARD:0004183|OMIM:185000|Orphanet:3203|ICD10:D58.8|DOID:0111562																		owl:Class
MONDO:0019113	biolink:NamedThing	benign paroxysmal torticollis of infancy	Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.	mondoexuq1wtf												SCTID:719521002|Orphanet:71518|UMLS:CN205631|ICD10:G24.3																		owl:Class
MONDO:0002275	biolink:NamedThing	generalized atherosclerosis	Atherosclerosis that is not localized.	mondoexuq1wtf	generalized and unspecified atherosclerosis|generalised atherosclerosis											DOID:2347|COHD:321882|NCIT:C35767|ICD10:I70.91|ICD9:440.9|SCTID:39823006|UMLS:C0017327																		owl:Class
MONDO:0000313	biolink:NamedThing	hypophosphatemia	Lower than normal levels of phosphates in the circulating blood.	mondoexuq1wtf	hypophosphatemia (disease)|hypophosphatemia		hypophosphatemia (disease)									MESH:D017674|HP:0002148|UMLS:C0085682|DOID:0050336|SCTID:4996001|NCIT:C37977																		owl:Class
MONDO:0013194	biolink:NamedThing	Pseudopili annulati		mondoexuq1wtf	Pseudopili annulati											OMIM:613241																		owl:Class
MONDO:0018224	biolink:NamedThing	hydroa vacciniforme-like lymphoma	A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.	mondoexuq1wtf	HVLL|angiocentric cutaneous T-cell lymphoma of childhood|hydroa vacciniforme-like lymphoma|hV-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma											SCTID:763719001|Orphanet:364039|ICD10:C84.5|NCIT:C45327|UMLS:C1708397|ICDO:9725/3																		owl:Class
MONDO:0006188	biolink:NamedThing	EBV-positive T-cell lymphoproliferative disorder of childhood	An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.	mondoexuq1wtf	EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood											UMLS:C2699838|EFO:1000228|NCIT:C80373																		owl:Class
MONDO:0001054	biolink:NamedThing	double pterygium		mondoexuq1wtf												COHD:375549|UMLS:C0155157|SCTID:41564009|ICD9:372.44|DOID:10525																		owl:Class
MONDO:0013799	biolink:NamedThing	efavirenz, poor metabolism of		mondoexuq1wtf	efavirenz, poor metabolism of|efavirenz central nervous system toxicity, susceptibility to											OMIM:614546																		owl:Class
MONDO:0019900	biolink:NamedThing	non-distal monosomy 12q		mondoexuq1wtf	non-distal deletion 12q|non-distal monosomy type 12q|non-telomeric monosomy 12q											Orphanet:96160|ICD10:Q93.5																		owl:Class
MONDO:0013707	biolink:NamedThing	intellectual disability, autosomal recessive 24		mondoexuq1wtf	mental retardation, autosomal recessive 24|intellectual disability, autosomal recessive 24|MRT24											OMIM:614345|UMLS:C3280543																		owl:Class
MONDO:0030070	biolink:NamedThing	heterotaxy, visceral, 9, autosomal, with male infertility		mondoexuq1wtf	HTX9|HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY|heterotaxy, visceral, 9, autosomal, with male infertility											OMIM:618948																		owl:Class
MONDO:0003573	biolink:NamedThing	pleomorphic carcinoma	A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.	mondoexuq1wtf	pleomorphic carcinoma (morphologic abnormality)|pleomorphic carcinoma											ICDO:8022/3|DOID:5662|NCIT:C4094|UMLS:C0334233																		owl:Class
MONDO:0001745	biolink:NamedThing	subserous uterine fibroid		mondoexuq1wtf	subserous leiomyoma of uterus											SCTID:95280005|DOID:13560|COHD:195770|UMLS:C0153995|ICD9:218.2|ICD10:D25.2																		owl:Class
MONDO:0003204	biolink:NamedThing	villous adenocarcinoma	An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.	mondoexuq1wtf	villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality)											DOID:4917|UMLS:C0334306|ICDO:8262/3|NCIT:C4142																		owl:Class
MONDO:0006982	biolink:NamedThing	subacute thyroiditis	Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.	mondoexuq1wtf	De Quervain's thyroiditis|DeQuervain thyroiditis|Subacute thyroiditis|De Quervain thyroiditis|Subacute granulomatous thyroiditis|giant-cell thyroiditis|de Quervain's thyroiditis|granulomatous thyroiditis											COHD:132579|MESH:D013968|NCIT:C35828|ICD9:245.1|MedDRA:10042298|UMLS:C0040149|DOID:7165|EFO:1001194|ICD10:E06.1|SCTID:428041004																		owl:Class
MONDO:0100054	biolink:NamedThing	idiopathic anaphylaxis	Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.	mondoexuq1wtf					2018-08-15 17:39:53+00:00							SCTID:241954008																		owl:Class
MONDO:0013415	biolink:NamedThing	chromosome 17p13.1 deletion syndrome		mondoexuq1wtf	17p13.1 deletion syndrome|chromosome 17p13.1 deletion syndrome											GARD:0010996|DOID:0060402|OMIM:613776|UMLS:C3151069																		owl:Class
MONDO:0032606	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 2		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2|MC1DN2											OMIM:618222																		owl:Class
MONDO:0013343	biolink:NamedThing	C1Q deficiency	C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.	mondoexuq1wtf	C1QD|C1q deficiency|C1Q deficiency											OMIM:613652|UMLS:C3150902|GARD:0012958|NCIT:C119990														https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency				owl:Class
MONDO:0014468	biolink:NamedThing	congenital myasthenic syndrome 7	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.	mondoexuq1wtf	congenital myasthenic syndrome 7 presynaptic|CMS7|SYT2 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in SYT2|myasthenic syndrome, congenital, 7, presynaptic|congenital myasthenic syndrome type 7|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy											OMIM:616040|DOID:0110659|UMLS:C4015038																		owl:Class
MONDO:0054677	biolink:NamedThing	combined oxidative phosphorylation deficiency 33		mondoexuq1wtf	combined oxidative phosphorylation deficiency 33|COXPD33											DOID:0111495|UMLS:C4540209|EFO:0009159|OMIM:617713																		owl:Class
MONDO:0010236	biolink:NamedThing	intellectual disability, X-linked 14		mondoexuq1wtf	intellectual disability, X-linked nonspecific, type 14|mental retardation, X-linked 14|mental retardation, X-linked nonspecific, type 14|intellectual disability, X-linked 14|MRX14											MESH:C537454|OMIM:300062|GARD:0008557																		owl:Class
MONDO:0060593	biolink:NamedThing	actn3 deficiency		mondoexuq1wtf	ACTN3 deficiency|sprinting performance|Alpha-actinin-3 deficiency											OMIM:617749																		owl:Class
MONDO:0010123	biolink:NamedThing	absent thumb-short stature-immunodeficiency syndrome	Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	mondoexuq1wtf	thumb agenesis, short stature, and immunodeficiency											ICD10:D82.8|OMIM:274190|Orphanet:2951|UMLS:C1848818|MESH:C564770																		owl:Class
MONDO:0016029	biolink:NamedThing	esthesioneuroblastoma	Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.	mondoexuq1wtf	olfactory neuroblastoma											GARD:0002197|ICD10:C30.0|SCTID:422886007|Orphanet:1957																		owl:Class
MONDO:0013996	biolink:NamedThing	focal facial dermal dysplasia type II	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.	mondoexuq1wtf	focal facial dermal dysplasia 2, Brauer-Setleis type|FFDD type II|Brauer-Setleis syndrome|FFDD2											ICD10:Q82.8|UMLS:C3554245|OMIM:614973|Orphanet:398173																		owl:Class
MONDO:0003895	biolink:NamedThing	periosteal osteogenic sarcoma	An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.	mondoexuq1wtf	periosteal osteogenic sarcoma|PEOS|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma|periosteal osteosarcoma (morphologic abnormality)											ONCOTREE:PEOS|DOID:6489|NCIT:C8970|UMLS:C1377843|ICDO:9193/3																		owl:Class
MONDO:0011154	biolink:NamedThing	acrofacial dysostosis, Palagonia type	Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	mondoexuq1wtf	Palagonia type of acrofacial dysostosis|Palagonia form of AFD|acrofacial dysostosis, Patagonia type|acrofacial dysostosis, Palagonia type|PAFD|AFD- Palagonia type|acrofacial dysostosis Palagonia type											OMIM:601829|GARD:0000499|ICD10:Q75.4|DOID:0060385|SCTID:720429007|UMLS:C1866168|Orphanet:1787|MESH:C538185																		owl:Class
MONDO:0002947	biolink:NamedThing	adamantinoid basal cell epithelioma		mondoexuq1wtf	skin adamantinoid basal cell epithelioma|skin adamantinoid basal cell carcinoma|adamantinoid basal cell carcinoma|melanotic adamantinoma of skin|basal cell carcinoma - adamantinoid											NCIT:C7585|DOID:4290|UMLS:C1304295|SCTID:402524007																		owl:Class
MONDO:0012768	biolink:NamedThing	prostate cancer, hereditary, 11		mondoexuq1wtf	prostate cancer, hereditary, 11|HPC11											MESH:C567449|UMLS:C2677773|OMIM:611955																		owl:Class
MONDO:0004856	biolink:NamedThing	rosacea conjunctivitis		mondoexuq1wtf												COHD:378429|UMLS:C0155152|SCTID:10128002|ICD9:372.31|DOID:9709																		owl:Class
MONDO:0012553	biolink:NamedThing	cerebrooculofacioskeletal syndrome 2	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.	mondoexuq1wtf	cerebrooculofacioskeletal syndrome 2|COFS syndrome caused by mutation in ERCC2|cerebrooculofacioskeletal syndrome type 2|ERCC2 COFS syndrome|COFS2											UMLS:C1853102|OMIM:610756|MESH:C565185																		owl:Class
MONDO:0006828	biolink:NamedThing	nasal cavity and paranasal sinus lethal midline granuloma	An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.	mondoexuq1wtf	nasal cavity and paranasal sinus lethal Midline granuloma|midfacial Necrotising lesion|malignant granuloma of face|Midline lethal granuloma of the nasal cavity and paranasal sinus|Midline lethal granuloma of nasal cavity and paranasal sinus|lethal midline granuloma					Editor note: TODO granuloma DP						EFO:1001013|MESH:D006103|ICD9:446.3|COHD:133511|NCIT:C8196|ICD10:M31.2|DOID:9072|MedDRA:10024255																		owl:Class
MONDO:0008654	biolink:NamedThing	nystagmus 4, congenital, autosomal dominant		mondoexuq1wtf	NYS4|vestibulocerebellar disorder with predominant ocular signs|NYSTAGMUS 4, congenital, autosomal dominant											OMIM:193003|MESH:C537856|GARD:0009603																		owl:Class
MONDO:0008936	biolink:NamedThing	cerebellar ataxia and neurosensory deafness		mondoexuq1wtf	cerebellar ataxia and neurosensory deafness											OMIM:212850|UMLS:C1859304|MESH:C565869																		owl:Class
MONDO:0009956	biolink:NamedThing	red skin pigment anomaly of new guinea		mondoexuq1wtf	Red skin pigment, New Guinea type|red skin pigment anomaly of new guinea											UMLS:C1849451|GARD:0009757|OMIM:266350|MESH:C535515														https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea				owl:Class
MONDO:0015552	biolink:NamedThing	acral dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.	mondoexuq1wtf	DEB, acral|DEB-ac											UMLS:CN199731|Orphanet:158673|UMLS:C4518087|SCTID:733638006|ICD10:Q81.2																		owl:Class
MONDO:0014683	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9		mondoexuq1wtf	Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|MDDGA9|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9											UMLS:C4225291|OMIM:616538|DOID:0111232																		owl:Class
MONDO:0017927	biolink:NamedThing	severe lateral tibial bowing with short stature	Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	mondoexuq1wtf												UMLS:CN204066|SCTID:766819001|Orphanet:324307|ICD10:Q68.4																		owl:Class
MONDO:0014509	biolink:NamedThing	vitelliform macular dystrophy 5	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.	mondoexuq1wtf	macular dystrophy, vitelliform, 5|macular dystrophy, vitelliform, type 5|VMD5|vitelliform macular dystrophy caused by mutation in IMPG2|IMPG2 vitelliform macular dystrophy											OMIM:616152|UMLS:C4015343																		owl:Class
MONDO:0100371	biolink:NamedThing	acute hepatitis C virus infection	A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.	mondoexuq1wtf	acute hepatitis C											NCIT:C157782																		owl:Class
MONDO:0019778	biolink:NamedThing	Smith-Fineman-Myers syndrome	Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	mondoexuq1wtf	Smith Fineman Myers syndrome|intellectual disability Smith Fineman Myers type|mental retardation Smith Fineman Myers type											MESH:C537445|Orphanet:93974|SCTID:719212004|GARD:0003521|UMLS:C0796159																		owl:Class
MONDO:0013846	biolink:NamedThing	peripartum cardiomyopathy, susceptibility to		mondoexuq1wtf	Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to											OMIM:614670																		owl:Class
MONDO:0002004	biolink:NamedThing	atheroembolism of kidney	A cholesterol embolism that involves the kidney.	mondoexuq1wtf	kidney cholesterol embolism|cholesterol embolism of kidney											ICD10:I75.81|DOID:1460																		owl:Class
MONDO:0009423	biolink:NamedThing	hypokalemic alkalosis, familial, with specific renal tubulopathy		mondoexuq1wtf	Gullner syndrome|hypokalemic alkalosis, familial, with specific renal tubulopathy|hypokalemia, familial											UMLS:C0268444|MESH:C562654|SCTID:81987005|OMIM:241150																		owl:Class
MONDO:0002164	biolink:NamedThing	focal chorioretinitis		mondoexuq1wtf												DOID:1979|COHD:437850|ICD10:H30.00|ICD10:H30.0|ICD9:363.0|SCTID:15847003|UMLS:C0154870|ICD9:363.00																		owl:Class
MONDO:0008647	biolink:NamedThing	hypertrophic cardiomyopathy 1	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic 1|hypertrophic cardiomyopathy caused by mutation in MYH7|cardiomyopathy, familial hypertrophic, type 1|Cmh|hypertrophic subaortic stenosis, idiopathic|hypertrophic cardiomyopathy type 1|MYH7 hypertrophic cardiomyopathy|CMH1|asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic, 1|ventricular Hypertrophy, hereditary											DOID:0110307|OMIM:192600																		owl:Class
MONDO:0009157	biolink:NamedThing	split hand-foot malformation 6	Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.	mondoexuq1wtf	SHFM6|split hand-foot malformation type 6|split hand-foot malformation caused by mutation in WNT10B|WNT10B split hand-foot malformation|split-hand/foot malformation type 6|ectrodactyly, autosomal recessive|split-hand/foot malformation 6											UMLS:C2749665|OMIM:225300|ICD10:Q71.6|DOID:0090026|MESH:C567616																		owl:Class
MONDO:0100104	biolink:NamedThing	fetal akinesia deformation sequence 4	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.	mondoexuq1wtf	FADS4											OMIM:618393|DOID:0111379																		owl:Class
MONDO:0018527	biolink:NamedThing	osteoclastic giant cell tumor of pancreas		mondoexuq1wtf	OGCT of pancreas|pancreatic undifferentiated carcinoma with osteoclast-like giant cells|undifferentiated carcinoma of pancreas with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor					Editor note: consider merging with MONDO:0006479						ICD10:C25.1|ICD10:C25.8|Orphanet:424080|ICD10:C25.0|UMLS:CN237530|ICD10:C25.7|ICD10:C25.2																		owl:Class
MONDO:0007038	biolink:NamedThing	Achoo syndrome		mondoexuq1wtf	Achoo syndrome|photic sneeze reflex|Peroutka sneeze|sneezing from Light exposure|autosomal dominant compelling helio ophthalmic outburst syndrome|autosomal dominant compelling Helioophthalmic outburst syndrome											GARD:0010036|OMIM:100820|EFO:0007887|UMLS:C1863416|MESH:C535300																		owl:Class
MONDO:0009418	biolink:NamedThing	hypogonadism with low-grade mental deficiency and microcephaly		mondoexuq1wtf	hypogonadism with low-grade mental deficiency and microcephaly											OMIM:241000|MESH:C565482|UMLS:C1855858																		owl:Class
MONDO:0024988	biolink:NamedThing	sex cord-stromal benign neoplasm	A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.	mondoexuq1wtf												DOID:0080368																		owl:Class
MONDO:0021905	biolink:NamedThing	apert-like polydactyly syndrome		mondoexuq1wtf	apert like polydactyly syndrome											GARD:0000746														https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome				owl:Class
MONDO:0027091	biolink:NamedThing	xanthogranulomatous sialadenitis		mondoexuq1wtf	sialadenitis, xanthogranulomatous|xanthogranulomatous salivary gland disease											GARD:0009739																		owl:Class
MONDO:0025713	biolink:NamedThing	angioedema, hereditary, 7		mondoexuq1wtf	HAE7											OMIM:619366																		owl:Class
MONDO:0015787	biolink:NamedThing	symptomatic form of hemophilia A in female carriers	A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.	mondoexuq1wtf												Orphanet:177926|ICD10:D66|UMLS:CN200369																		owl:Class
MONDO:0013375	biolink:NamedThing	Klippel-Feil syndrome 3, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.	mondoexuq1wtf	Klippel-FEIL syndrome 3, autosomal dominant|KFS3|GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3|Klippel-Feil syndrome 3, autosomal dominant											UMLS:C3150967|DOID:0080591|OMIM:613702																		owl:Class
MONDO:0009576	biolink:NamedThing	megalocornea		mondoexuq1wtf	megalocornea (disease)|megalocornea|anterior megalophthalmos		megalocornea (disease)									SCTID:268158009|HP:0000485|HP:0007660|DOID:0060305|MESH:C562829|OMIM:249300																		owl:Class
MONDO:0008330	biolink:NamedThing	pseudomonilethrix		mondoexuq1wtf	pseudomonilethrix											OMIM:177750|UMLS:C0432346|MESH:C562988|SCTID:254229006																		owl:Class
MONDO:0011785	biolink:NamedThing	hereditary spastic paraplegia 19	Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	mondoexuq1wtf	SPG19|hereditary spastic paraplegia type 19|spastic paraplegia 19|autosomal dominant spastic paraplegia type 19|autosomal dominant spastic paraplegia 19|spastic paraplegia 19, autosomal dominant											Orphanet:100999|DOID:0110772|ICD10:G11.4|MESH:C536856|GARD:0009588|SCTID:763375003|UMLS:C1846685|OMIM:607152																		owl:Class
MONDO:0002797	biolink:NamedThing	childhood medulloblastoma	A medulloblastoma occurring in children.	mondoexuq1wtf	medulloblastoma|medulloblastoma, childhood|pediatric medulloblastoma|childhood medulloblastoma|medulloblastoma of childhood											GARD:0009350|UMLS:C0278510|NCIT:C3997|DOID:3869														https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood				owl:Class
MONDO:0012712	biolink:NamedThing	dystonia with cerebellar atrophy		mondoexuq1wtf	dystonia with cerebellar atrophy|DYTCA											UMLS:C2673697|OMIM:611694|MESH:C567131																		owl:Class
MONDO:0019661	biolink:NamedThing	Pfeiffer syndrome type 3	Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.	mondoexuq1wtf												Orphanet:93260|ICD10:Q87.0|UMLS:CN206535																		owl:Class
MONDO:0004561	biolink:NamedThing	retinal melanoma	A melanoma affecting the retinal portion of the eye. --2003	mondoexuq1wtf	malignant melanoma of the retina|melanoma (disease) of retina|retina melanoma (disease)|retinal melanoma|melanoma of the retina|malignant melanoma of retina|malignant retinal melanoma|melanoma of retina|retina melanoma											NCIT:C8601|SCTID:423673009|UMLS:C0853394|DOID:8427																		owl:Class
MONDO:0014639	biolink:NamedThing	familial temporal lobe epilepsy 7	A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.	mondoexuq1wtf	epilepsy, familial temporal lobe, type 7|epilepsy, familial temporal lobe, 7|familial temporal lobe epilepsy type 7|ETL7											OMIM:616436|DOID:0060751|UMLS:C4225327																		owl:Class
MONDO:0004306	biolink:NamedThing	childhood intracortical osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	mondoexuq1wtf	childhood conventional osteosarcoma|childhood intracortical osteosarcoma											NCIT:C6590|UMLS:C1332974|DOID:7612																		owl:Class
MONDO:0001591	biolink:NamedThing	senile entropion		mondoexuq1wtf	involutional entropion											DOID:12836|SCTID:55408009|COHD:372322|UMLS:C0155188|ICD9:374.01																		owl:Class
MONDO:0012112	biolink:NamedThing	hypertrophic cardiomyopathy 10	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, type 10|MYL2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 10|CMH10|hypertrophic cardiomyopathy type 10|hypertrophic cardiomyopathy caused by mutation in MYL2|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2											MESH:C563865|UMLS:C1834460|OMIM:608758|DOID:0110316																		owl:Class
MONDO:0033645	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 11		mondoexuq1wtf	MC4DN11											OMIM:619054																		owl:Class
MONDO:0012952	biolink:NamedThing	colorectal cancer, susceptibility to, 9		mondoexuq1wtf	colorectal cancer, susceptibility to, 9|CRCS9|colorectal cancer, susceptibility to, on chromosome 16Q											OMIM:612590																		owl:Class
MONDO:0011893	biolink:NamedThing	autosomal dominant nonsyndromic deafness 52	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.	mondoexuq1wtf	deafness, autosomal dominant 52|deafness, autosomal dominant 42|autosomal dominant nonsyndromic deafness type 52|autosomal dominant deafness 52|DFNA52											MESH:C564348|UMLS:C1843232|OMIM:607683|ICD10:H90.3|DOID:0110578																		owl:Class
MONDO:0014481	biolink:NamedThing	inflammatory skin and bowel disease, neonatal, 2	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.	mondoexuq1wtf	inflammatory skin and bowel disease, neonatal, type 2|NISBD2|EGFR neonatal inflammatory skin and bowel disease|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|inflammatory skin and bowel disease, neonatal, 2											UMLS:C4015130|OMIM:616069																		owl:Class
MONDO:0007360	biolink:NamedThing	branchiootic syndrome 2		mondoexuq1wtf	branchiootic syndrome type 2|bo syndrome 2|branchiootic syndrome 2											MESH:C565171|UMLS:C1852718|OMIM:120502																		owl:Class
MONDO:0030066	biolink:NamedThing	granulomatous disease, chronic, autosomal recessive, 5		mondoexuq1wtf	CGD5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5|granulomatous disease, chronic, autosomal recessive, 5											OMIM:618935																		owl:Class
MONDO:0003876	biolink:NamedThing	eyelid carcinoma	A carcinoma that arises from epithelial cells of the eyelid.	mondoexuq1wtf	eyelid carcinoma|carcinoma of the eyelid|carcinoma of eyelid											UMLS:C0920196|NCIT:C6078|DOID:6425																		owl:Class
MONDO:0001880	biolink:NamedThing	median rhomboid glossitis		mondoexuq1wtf	persistent tuberculum impar											DOID:14111|SCTID:7522008|ICD9:750.19|ICD9:529.2|ICD10:K14.2																		owl:Class
MONDO:0011345	biolink:NamedThing	facial dysmorphism, selective tooth agenesis, and choroid calcification		mondoexuq1wtf	facial dysmorphism, selective tooth agenesis, and choroid calcification											UMLS:C1970343|MESH:C567039|OMIM:603589																		owl:Class
MONDO:0013435	biolink:NamedThing	primary ciliary dyskinesia 15	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 15|CILD15|CCDC40 primary ciliary dyskinesia|ciliary dyskinesia, primary, 15, with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC40|primary ciliary dyskinesia type 15|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia 15 with or without situs inversus											ICD10:Q34.8|DOID:0110623|UMLS:C3151137|OMIM:613808																		owl:Class
MONDO:0025293	biolink:NamedThing	poult enteritis mortality syndrome	An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.	mondoexuq1wtf	spiking mortality syndrome|mortality syndrome, spiking											MESH:D031261|UMLS:C1135821																		owl:Class
MONDO:0030900	biolink:NamedThing	intellectual developmental disorder with paroxysmal dyskinesia or seizures		mondoexuq1wtf	IDDPADS											OMIM:619150																		owl:Class
MONDO:0021333	biolink:NamedThing	carcinoma of lip	A carcinoma that involves the lip.	mondoexuq1wtf	lip carcinoma|carcinoma of the Lip|lip cancer|carcinoma of lip											NCIT:C3490|SCTID:269515006|UMLS:C0149637																		owl:Class
MONDO:0012439	biolink:NamedThing	Alagille syndrome due to a NOTCH2 point mutation		mondoexuq1wtf	Alagille syndrome 2|syndromic bile duct paucity due to a NOTCH2 point mutation|Alagille-Watson syndrome due to a NOTCH2 point mutation|Alagille syndrome type 2|Arteriohepatic dysplasia due to a NOTCH2 point mutation|ALGS2											ICD10:Q44.7|OMIM:610205|UMLS:C1857761|Orphanet:261629																		owl:Class
MONDO:0007027	biolink:NamedThing	non-alcoholic steatohepatitis	Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	mondoexuq1wtf	nash - nonalcoholic Steatohepatitis|nonalcoholic Steatohepatitis											DOID:0080547|MedDRA:10053219|ICD10:K75.81|EFO:1001249|NCIT:C84445																		owl:Class
MONDO:0024322	biolink:NamedThing	disorder of glycosylation	A disease that has its basis in the disruption of glycosylation.	mondoexuq1wtf	disorder of glycosylation|glycosylation disease					May be inborn or somatic																								owl:Class
MONDO:0020465	biolink:NamedThing	congenital eyelid retraction	Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.	mondoexuq1wtf						Editor note: check ORDO classification						ICD10:Q10.3|Orphanet:99176|SCTID:715769008																		owl:Class
MONDO:0022399	biolink:NamedThing	retinal ciliopathy due to mutation in the rpgr gene		mondoexuq1wtf												Orphanet:156171																		owl:Class
MONDO:0019325	biolink:NamedThing	phakomatosis cesioflammea		mondoexuq1wtf	phakomatosis pigmentovascularis type 2											SCTID:703284009|UMLS:CN205984|Orphanet:79483|ICD9:759.6|ICD10:Q85.8																		owl:Class
MONDO:0020252	biolink:NamedThing	essential strabismus		mondoexuq1wtf												Orphanet:98682																		owl:Class
MONDO:0017422	biolink:NamedThing	adactyly of hand		mondoexuq1wtf	fingers absent											ICD10:Q71.3|Orphanet:294931																		owl:Class
MONDO:0013282	biolink:NamedThing	alpha 1-antitrypsin deficiency	Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.	mondoexuq1wtf	AAT deficiency|Alpha 1 antitrypsin deficiency|alpha-1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency|A1AT deficiency|deficiency in Alpa-1-proteinase inhibitor|A1ATD|AATD|A1AD|A-1ATD|ALPHA-1-antitrypsin deficiency											COHD:192275|NCIT:C84397|OMIM:613490|MedDRA:10001806|ICD9:273.4|ICD10:E88.01|MESH:D019896|Orphanet:60|SCTID:30188007|ICD10:E88.0|DOID:13372|UMLS:C0221757|GARD:0005784														https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency				owl:Class
MONDO:0018813	biolink:NamedThing	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement		mondoexuq1wtf												Orphanet:480541																		owl:Class
MONDO:0008100	biolink:NamedThing	nipples inverted		mondoexuq1wtf	Mammillae Invertitae|nipples inverted											OMIM:163600																		owl:Class
MONDO:0001539	biolink:NamedThing	retinal perforation	A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.	mondoexuq1wtf	retinal break|retinal tear|retinal dialysis											MESH:D012167|SCTID:232003005|DOID:12514|UMLS:C0035321																		owl:Class
MONDO:0017687	biolink:NamedThing	disorder of neutral amino acid transport	An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport.	mondoexuq1wtf	inborn error of neutral amino acid transport|rare inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder											ICD10:E72.0|Orphanet:308451|UMLS:CN203583																		owl:Class
MONDO:0030089	biolink:NamedThing	diabetes mellitus, permanent neonatal 4		mondoexuq1wtf	PNDM4|diabetes mellitus, permanent neonatal 4|DIABETES MELLITUS, PERMANENT NEONATAL 4											OMIM:618858																		owl:Class
MONDO:0011607	biolink:NamedThing	narcolepsy 2, susceptibility to		mondoexuq1wtf	narcolepsy 2, susceptibility to|NRCLP2											OMIM:605841|UMLS:C1853901																		owl:Class
MONDO:0037736	biolink:NamedThing	infratentorial neoplasm	A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.	mondoexuq1wtf	infratentorial neoplasms|brain neoplasms, infratentorial|infratentorial neoplasm|infratentorial tumors|neoplasms, infratentorial|infratentorial tumor											NCIT:C3139																		owl:Class
MONDO:0022786	biolink:NamedThing	cleft palate colobomata radial synostosis deafness		mondoexuq1wtf												GARD:0001388														https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness				owl:Class
MONDO:0042915	biolink:NamedThing	Schmitt-Gillenwater-Kelly syndrome		mondoexuq1wtf	Schmitt Gillenwater Kelly syndrome|radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema											GARD:0000258																		owl:Class
MONDO:0011856	biolink:NamedThing	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome		mondoexuq1wtf	spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SmD with with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism											Orphanet:168552|OMIM:607543|MESH:C535791|GARD:0008719|UMLS:C1843706|ICD10:Q77.8																		owl:Class
MONDO:0005783	biolink:NamedThing	hemopericardium	An accumulation of blood within the pericardial sac.	mondoexuq1wtf	hemopericardium|haemopericardium|hemopericardium (disease)		hemopericardium (disease)									HP:0011851|SCTID:23412002|COHD:258449|ICD9:423.0|DOID:11482|UMLS:C0019064|EFO:0007298																		owl:Class
MONDO:0002555	biolink:NamedThing	trigeminal schwannoma	A schwannoma that involves the trigeminal nerve.	mondoexuq1wtf	neurilemmoma of trigeminal nerve|fifth cranial nerve neurilemmoma|schwannoma of trigeminal nerve|neurilemmoma of fifth cranial nerve|schwannoma of the trigeminal nerve|trigeminal nerve schwannoma|fifth cranial nerve schwannoma|neurilemmoma of the trigeminal nerve|schwannoma of the fifth cranial nerve|neurilemmoma of the fifth cranial nerve|trigeminal neurilemmoma|trigeminal schwannoma|schwannoma of fifth cranial nerve											SCTID:277185000|NCIT:C4655|UMLS:C0349582|DOID:3202|ICD9:215.9																		owl:Class
MONDO:0017285	biolink:NamedThing	penoscrotal transposition	Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).	mondoexuq1wtf	Prepenile scrotum|penoscrotal transposition (disease)|congenital penoscrotal transposition|congenital transposition of the penis|penoscrotal transposition		penoscrotal transposition (disease)									SCTID:312005008|HP:0100600|NCIT:C99010|Orphanet:2842|GARD:0004273|MedDRA:10067287|ICD10:Q55.8|UMLS:C1868854|MESH:C536650																		owl:Class
MONDO:0002239	biolink:NamedThing	post-surgical hypoinsulinemia		mondoexuq1wtf	postsurgical hypoinsulinemia											COHD:192591|UMLS:C0154190|SCTID:190437000|DOID:2181|ICD9:251.3|ICD10:E89.1																		owl:Class
MONDO:0015599	biolink:NamedThing	atopic keratoconjunctivitis	Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.	mondoexuq1wtf												ICD9:370.49|UMLS:C1274788|SCTID:403434009|Orphanet:163934|MedDRA:10069664|ICD10:H16.2																		owl:Class
MONDO:0003865	biolink:NamedThing	acral lentiginous melanoma	A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.	mondoexuq1wtf	subungual melanoma|acral lentiginous melanoma|acral lentiginous malignant melanoma of skin|palmar/plantar melanoma|acral lentiginous malignant melanoma|malignant acral lentiginous melanoma|acral lentiginous melanoma, malignant|acral lentiginous melanoma (disease)|ALM|acral melanoma|acral lentiginous melanoma, malignant (morphologic abnormality)		acral lentiginous melanoma (disease)			Editor note: check ONCOTREE mapping						DOID:6367|ICDO:8744/3|NCIT:C4022|UMLS:C0346037|GARD:0009570|SCTID:254732008|ONCOTREE:ACRM|HP:0012060																		owl:Class
MONDO:0015649	biolink:NamedThing	micturation-induced seizures	Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.	mondoexuq1wtf												Orphanet:166430|ICD10:G40.8|UMLS:CN200059																		owl:Class
MONDO:0007209	biolink:NamedThing	Weismann-Netter syndrome	Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	mondoexuq1wtf	Weismann-Netter syndrome|Toxopachyosteose Diaphysaire Tibio-Peroniere|Weismann-Netter-Stuhl syndrome|Weismann Netter syndrome|bowing of legs, anterior, with dwarfism|WEISMANN-NETTER syndrome|bowing of legs, anterior with dwarfism|WNS|anterior bowing of legs with dwarfism											UMLS:C1862172|ICD10:Q77.8|GARD:0005232|SCTID:715532007|OMIM:112350|MESH:C537082|Orphanet:3344																		owl:Class
MONDO:0003554	biolink:NamedThing	adenosquamous colon carcinoma	An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	mondoexuq1wtf	adenosquamous colon carcinoma|colon adenosquamous carcinoma|colonic adenosquamous carcinoma|adenosquamous carcinoma of colon|colon adenosquamous cancer|adenosquamous carcinoma of the colon											UMLS:C1333082|DOID:5629|NCIT:C5491																		owl:Class
MONDO:0007022	biolink:NamedThing	xanthogranulomatous pyelonephritis	Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.	mondoexuq1wtf	xanthogranulomatous pyelonephritis											MESH:D011705|MedDRA:10074389|GARD:0012021|UMLS:C0034188|NCIT:C123038|EFO:1001244|SCTID:38898003|DOID:11401|ICD9:582.89																		owl:Class
CL:0002320	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018749	biolink:NamedThing	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.	mondoexuq1wtf	HPFH-beta-thalassemia syndrome											UMLS:CN205122|ICD10:D56.4|HGNC:3627|Orphanet:46532|HGNC:5153																		owl:Class
MONDO:0014798	biolink:NamedThing	brachydactyly type A1D	Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.	mondoexuq1wtf	BDA1D|BMPR1B brachydactyly type A1|brachydactyly type A1 caused by mutation in BMPR1B|brachydactyly, type A1, D											DOID:0110978|OMIM:616849|UMLS:C4225183																		owl:Class
MONDO:0007392	biolink:NamedThing	coxoauricular syndrome	Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	mondoexuq1wtf	coxoauricular syndrome											Orphanet:1508|SCTID:732248005|GARD:0001558|MESH:C565148|OMIM:122780|UMLS:C1852513|ICD10:Q87.1														https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome				owl:Class
MONDO:0012486	biolink:NamedThing	preauricular tag, isolated, autosomal dominant, 1		mondoexuq1wtf	preauricular tag, isolated, autosomal dominant, 1|preauricular Tag, isolated, autosomal dominant, type 1											UMLS:C1968893|MESH:C566904|OMIM:610420																		owl:Class
MONDO:0003348	biolink:NamedThing	conventional leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.	mondoexuq1wtf	conventional leiomyosarcoma|classic leiomyosarcoma											UMLS:C1333157|DOID:5253|NCIT:C9428																		owl:Class
MONDO:0013049	biolink:NamedThing	DPM3-CDG	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	mondoexuq1wtf	Cdg1(Dpm3)|congenital disorder of glycosylation, type Io|CDG syndrome type Io|carbohydrate deficient glycoprotein syndrome type Io|CDGIo|CDG-Io|congenital disorder of glycosylation type Io|CDG1O|DG1O|congenital disorder of glycosylation type 1o|DPM3-CDG (CDG-Io)|CDG Io											UMLS:C2752007|GARD:0012395|ICD10:E77.8|Orphanet:263494|MESH:C567857|OMIM:612937|SCTID:725044000																		owl:Class
MONDO:0010775	biolink:NamedThing	retinitis pigmentosa-deafness syndrome	An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.	mondoexuq1wtf	retinitis pigmentosa 8|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 21, formerly|RP8, formerly|retinitis pigmentosa 8, formerly|retinitis pigmentosa 21|RP21, formerly					Editor note: check relationship to Usher 3 from ORDO						ICD10:H35.5|SCTID:57838006|GARD:0004684|OMIM:500004|DOID:0110829|UMLS:CN033130																		owl:Class
MONDO:0007133	biolink:NamedThing	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly		mondoexuq1wtf	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|Kumar-Levick syndrome											OMIM:106990|GARD:0000711|UMLS:C1862842|Orphanet:2355|MESH:C536379														https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly				owl:Class
MONDO:0008442	biolink:NamedThing	spastic paraplegia-neuropathy-poikiloderma syndrome	Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	Antinolo-Nieto-Borrego syndrome|spastic paraplegia with neuropathy and poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|spastic paraplegia neuropathy poikiloderma											UMLS:C1866851|MESH:C536870|GARD:0004921|Orphanet:2821|OMIM:182815																		owl:Class
MONDO:0009281	biolink:NamedThing	glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.	mondoexuq1wtf	glutaric acidemia 1|glutaryl-CoA dehydrogenase deficiency|glutaryl-coenzyme A dehydrogenase deficiency|glutaric acidemia I|GA1|glutaric aciduria type I|glutaric acidemia type I|glutaric aciduria type 1|glutaric aciduria 1|glutaric aciduria, type 1|glutaric acidemia, type 1|GCDHD|glutaric acidemia type 1|Ga 1											OMIM:231670|MESH:C536833|SCTID:76175005|GARD:0006522|UMLS:C0268595|NCIT:C99101|ICD10:E72.3|DOID:0111254|Orphanet:25																		owl:Class
MONDO:0100165	biolink:NamedThing	permanent neonatal diabetes mellitus 1	A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.	mondoexuq1wtf	PNDM1|diabetes mellitus, permanent, of infancy|PDMI							http://orcid.org/0000-0001-5208-3432				OMIM:606176																		owl:Class
MONDO:0015595	biolink:NamedThing	posttransplant acute limbic encephalitis	Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	mondoexuq1wtf	pale											ICD10:A86|Orphanet:163921																		owl:Class
MONDO:0012487	biolink:NamedThing	alopecia-intellectual disability syndrome 2		mondoexuq1wtf	alopecia intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit|APMR2|alopecia-intellectual disability syndrome 2|AMR syndrome 2|alopecia-mental retardation syndrome 2											MESH:C563668|GARD:0004291|DOID:0080629|OMIM:610422|UMLS:C1835852																		owl:Class
MONDO:0007939	biolink:NamedThing	malignant hyperthermia, susceptibility to, 2		mondoexuq1wtf	Mhs2|malignant hyperpyrexia susceptibility type 2|MHS2|malignant hyperthermia, susceptibility to, 2|malignant hyperthermia, susceptibility to, type 2|malignant hyperthermia susceptibility type 2											OMIM:154275|MESH:C535695|GARD:0003364														https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2				owl:Class
MONDO:0015457	biolink:NamedThing	corpus callosum agenesis-double urinary collecting system syndrome		mondoexuq1wtf	Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis double urinary collecting|agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis - double urinary collecting system|corpus callosum agenesis-double urinary collecting system syndrome|Ben Ari-Shuper-Mimouni syndrome											Orphanet:1492|MESH:C535427|UMLS:C2930897|GARD:0001536|GARD:0000852														https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting				owl:Class
MONDO:0010388	biolink:NamedThing	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked		mondoexuq1wtf	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked|RESDX|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked											MESH:C564467|UMLS:C1845070|OMIM:300643																		owl:Class
MONDO:0011188	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 3	An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.	mondoexuq1wtf	arrhythmogenic right ventricular cardiomyopathy 3|ARVD3|familial arrhythmogenic right ventricular dysplasia 3|ARVC3|arrhythmogenic right ventricular dysplasia type 3|arrhythmogenic right ventricular dysplasia, familial, 3											UMLS:C1865882|ICD10:I42.8|OMIM:602086|DOID:0110072|MESH:C566584																		owl:Class
MONDO:0006592	biolink:NamedThing	parapsoriasis	Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.	mondoexuq1wtf	digitate dermatosis|parapsoriasis en plaque											GARD:0007328|DOID:9088|NCIT:C3312|ICD10:L41|COHD:320798|EFO:1000747|ICD10:L41.9|UMLS:C0030491|MESH:D010267|ICD9:696.2|SCTID:88233000|Wikipedia:Parapsoriasis														https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis				owl:Class
MONDO:0033541	biolink:NamedThing	immunodeficiency 69		mondoexuq1wtf	Ifng Deficiency, Autosomal Recessive|IMD69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|IMMUNODEFICIENCY 69											OMIM:618963																		owl:Class
MONDO:0100421	biolink:NamedThing	acute myeloid leukemia, GATA1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)	mondoexuq1wtf	AML, GF-1 Gene Mutation|AML, GATA Binding Protein 1 Gene Mutation|AML, GATA1 Mutation|AML, GATA-1 Gene Mutation|AML, NF-E1 Gene Mutation|AML, NFE1 Gene Mutation|AML, GF1 Gene Mutation|AML, ERYF1 Gene Mutation|AML, GATA1 gene mutation																													owl:Class
MONDO:0033006	biolink:NamedThing	Galloway-Mowat syndrome 2, X-linked		mondoexuq1wtf	Galloway-Mowat syndrome 2, X-linked|Galloway-Mowat syndrome 2|GAMOS2											OMIM:301006|UMLS:CN570502|DOID:0080244																		owl:Class
MONDO:0006073	biolink:NamedThing	adenomatoid odontogenic tumor	A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.	mondoexuq1wtf	adenomatoid odontogenic neoplasm											NCIT:C4310|MESH:C538229|ICDO:9300/0|EFO:1000072																		owl:Class
MONDO:0060456	biolink:NamedThing	cerebral sclerosis, diffuse, scholz type		mondoexuq1wtf	cerebral sclerosis, diffuse, scholz type											MESH:C564449|OMIM:302700																		owl:Class
MONDO:0003682	biolink:NamedThing	localized chondrosarcoma	A non-disseminated skeletal or extraskeletal chondrosarcoma.	mondoexuq1wtf	localized chondrosarcoma|chondrosarcoma, localized											UMLS:C0855011|DOID:5862|NCIT:C8778																		owl:Class
MONDO:0005198	biolink:NamedThing	vulvar intraepithelial neoplasia	Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.	mondoexuq1wtf	squamous vulvar intraepithelial neoplasia|VIN|intraepithelial neoplasia of the vulva|vulval intraepithelial neoplasia|intraepithelial neoplasia of vulva|vulvar intraepithelial tumor|vulva intraepithelial neoplasia											Orphanet:137583|UMLS:C0346210|ICD10:D07.1|NCIT:C4756|EFO:0002627																		owl:Class
MONDO:0032773	biolink:NamedThing	uridine-cytidineuria		mondoexuq1wtf	URCTU|URIDINE-CYTIDINEURIA											OMIM:618477																		owl:Class
MONDO:0011813	biolink:NamedThing	polydactyly, postaxial, type A3		mondoexuq1wtf	polydactyly, postaxial, type A3|postaxial polydactyly, type A3|PAPA3|Papa3											OMIM:607324|MESH:C564590|UMLS:C1846452																		owl:Class
MONDO:0033566	biolink:NamedThing	combined oxidative phosphorylation deficiency 48		mondoexuq1wtf	COXPD48|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48											OMIM:619012																		owl:Class
MONDO:0043004	biolink:NamedThing	Weil's disease	A jauncice caused by severe leptospirosis.	mondoexuq1wtf	leptospirosis, icterohemorrhagic|Icterohemorrhagic leptospirosis|weil's disease|spirochetal jaundice|disease, Weil's|disease, Weil|icteric leptospirosis|Weils disease|Weil's disease|jaundice, spirochetal|Weil disease											SCTID:398067003|MESH:D014895																		owl:Class
MONDO:0010143	biolink:NamedThing	lethal restrictive dermopathy	Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.	mondoexuq1wtf	lethal restrictive dermopathy|tight skin contracture syndrome|hyperkeratosis-contracture syndrome|restrictive dermopathy|fetal hypokinesia sequence due to restrictive dermopathy|restrictive dermopathy, lethal|tight skin contracture syndrome, lethal											GARD:0001516|MESH:C536920|UMLS:C0406585|Orphanet:1662|ICD10:Q82.8|OMIM:275210|SCTID:400128006|DOID:0060762																		owl:Class
MONDO:0005862	biolink:NamedThing	multiple chemical sensitivity	An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)	mondoexuq1wtf	20th century disease|environmental illness|chemical AIDS|total allergy syndrome|idiopathic environmental illness					Editor note: consider obsoletion						EFO:0007382|UMLS:C0242992|SCTID:702772003|DOID:4661|MESH:D018777																		owl:Class
MONDO:0015018	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 12	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.	mondoexuq1wtf	ichthyosis, congenital, autosomal recessive 12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ARCI12|ichthyosis, congenital, autosomal recessive type 12											OMIM:617320|UMLS:C4310621																		owl:Class
MONDO:0004152	biolink:NamedThing	chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.	mondoexuq1wtf	postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with IGVH SHM|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation											DOID:7230|UMLS:C1333037|NCIT:C37201																		owl:Class
MONDO:0014036	biolink:NamedThing	Alzheimer disease 17	An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.	mondoexuq1wtf	Alzheimer's disease type 17|Alzheimer disease 17, late-onset|Alzheimer disease 17|AD17|Alzheimer's disease 17|Alzheimer disease 17, late onset											UMLS:C3554452|DOID:0110049|OMIM:615080																		owl:Class
MONDO:0010897	biolink:NamedThing	schizophrenia 3	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.	mondoexuq1wtf	schizophrenia 3|SCZD3|schizophrenia susceptibility locus, chromosome 6-related|schizophrenia 3 with or without an affective disorder											DOID:0070079|UMLS:C1838069|OMIM:600511																		owl:Class
MONDO:0030067	biolink:NamedThing	treacher collins syndrome 4		mondoexuq1wtf	treacher collins syndrome 4|TCS4|TREACHER COLLINS SYNDROME 4											OMIM:618939																		owl:Class
MONDO:0001396	biolink:NamedThing	abnormal threshold of rods		mondoexuq1wtf	abnormal dark adaptation curve											DOID:11874|ICD9:368.63|UMLS:C0155019|ICD10:H53.61|SCTID:50455002																		owl:Class
MONDO:0009086	biolink:NamedThing	deafness-small bowel diverticulosis-neuropathy syndrome	Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).	mondoexuq1wtf	Groll-Hirschowitz syndrome|deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome|nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy											UMLS:C1857338|MESH:C537305|OMIM:221400|GARD:0002568|SCTID:733071009|Orphanet:3217																		owl:Class
MONDO:0009106	biolink:NamedThing	diastematomyelia	A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.	mondoexuq1wtf	split cord malformation|split spinal cord malformation|split cord malformation type 1|diastematomyelia|diplomyelia|SCM type 1|SSCM|Pseudodiplomyelia|Dimyelia											COHD:139132|NCIT:C98913|ICD10:Q06.2|OMIM:222500|Orphanet:1671|ICD9:742.51|MedDRA:10012750|SCTID:49351009|GARD:0001851|UMLS:C0011999																		owl:Class
MONDO:0005533	biolink:NamedThing	distal colitis	Particular variety of ulcerative colitis where only the left half of the colon is inflamed.	mondoexuq1wtf	inflammation of left colon|left colon inflammation											EFO:0005623|SCTID:373639002|ICD9:558.9|UMLS:C0860168																		owl:Class
MONDO:0004512	biolink:NamedThing	meningeal melanomatosis	A meningeal melanoma with secondary diffuse meningeal spread. (WHO)	mondoexuq1wtf	meningeal melanomatosis (morphologic abnormality)|melanomatosis of meningeal cluster|meningeal melanomatosis|leptomeningeal melanomatosis|meningeal cluster melanomatosis											ICDO:8728/3|UMLS:C1266114|NCIT:C6891|DOID:8243																		owl:Class
MONDO:0007086	biolink:NamedThing	autosomal dominant Alport syndrome	Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.	mondoexuq1wtf	renal failure and sensorineural hearing loss|Alport syndrome dominant type|Alport syndrome, autosomal dominant											OMIM:104200|DOID:0110032|GARD:0000624|ICD10:Q87.8|Orphanet:88918|SCTID:717766000														https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome				owl:Class
MONDO:0020712	biolink:NamedThing	46,XY sex reversal 1		mondoexuq1wtf	46,XY sex reversal type 1|46,XY sex reversal 1|SRXY1|46,XY sex reversal, SRY-related|46,XY true hermaphroditism, SRY-related|46,XY gonadal dysgenesis, complete, SRY-related											DOID:0111778|OMIM:400044																		owl:Class
MONDO:0033480	biolink:NamedThing	spinocerebellar ataxia 45		mondoexuq1wtf	SCA45|spinocerebellar ataxia 45											UMLS:CN623017|Orphanet:589527|OMIM:617769|DOID:0080287																		owl:Class
MONDO:0001959	biolink:NamedThing	labyrinthine bilateral reactive loss		mondoexuq1wtf	bilateral loss of labyrinthine reactivity|loss of labyrinthine reactivity, bilateral											ICD9:386.56|UMLS:C0155520|SCTID:194377001|DOID:14413																		owl:Class
MONDO:0030934	biolink:NamedThing	intellectual developmental disorder, autosomal dominant 64		mondoexuq1wtf	MRD64|mental retardation, autosomal dominant 64|intellectual developmental disorder, autosomal dominant 64											OMIM:619188																		owl:Class
MONDO:0014476	biolink:NamedThing	episodic ataxia type 8		mondoexuq1wtf	episodic ataxia type 8|episodic ataxia with slurred speech|EA8|episodic ataxia, type 8											Orphanet:401953|UMLS:C4015108|OMIM:616055|ICD10:G11.8|DOID:0050996																		owl:Class
MONDO:0030054	biolink:NamedThing	developmental and epileptic encephalopathy, 86		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86|DEE86|EIEE86|epileptic encephalopathy, early infantile, 86											OMIM:618910																		owl:Class
MONDO:0016731	biolink:NamedThing	desmoplastic infantile astrocytoma/ganglioglioma	Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.	mondoexuq1wtf	DIA/DIG											Orphanet:251940|UMLS:CN201979																		owl:Class
MONDO:0016211	biolink:NamedThing	non-papillary transitional cell carcinoma of the bladder		mondoexuq1wtf	non-papillary urothelial carcinoma											ICD10:C67.1|ICD10:C67.5|ICD10:C67.3|ICD10:C67.9|ICD10:C67.7|ICD10:C67.0|ICD10:C67.6|Orphanet:209989|UMLS:CN200968|ICD10:C67.8|ICD10:C67.2|ICD10:C67.4																		owl:Class
MONDO:0010280	biolink:NamedThing	ptosis, hereditary congenital 2		mondoexuq1wtf	Ptos2|ptosis, hereditary congenital type 2|ptosis, hereditary congenital 2|ptosis, X-linked											UMLS:C1846128|OMIM:300245|MESH:C564553																		owl:Class
MONDO:0032729	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 70		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70|MRT70|Mental Retardation, Autosomal Recessive 70											OMIM:618402																		owl:Class
MONDO:0015672	biolink:NamedThing	diprosopus	Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.	mondoexuq1wtf	Diprosopia|craniofacial duplication											SCTID:62192003|GARD:0001876|Orphanet:1681																		owl:Class
MONDO:0020382	biolink:NamedThing	multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.	mondoexuq1wtf	multifocal pattern dystrophy simulating Stargardt disease											ICD10:H35.5|SCTID:723408004|Orphanet:99003|UMLS:CN207256																		owl:Class
MONDO:0010862	biolink:NamedThing	type 1 diabetes mellitus 4	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.	mondoexuq1wtf	insulin-dependent diabetes mellitus 4|IDDM4|diabetes mellitus, insulin-dependent, 4											ICD10:E10|UMLS:C1838261|MESH:C563959|DOID:0110743|OMIM:600319																		owl:Class
MONDO:0007028	biolink:NamedThing	rotator cuff syndrome	Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.	mondoexuq1wtf	rotator cuff tear											SCTID:4106009|ICD9:726.10|https://en.wikipedia.org/wiki/Rotator_cuff_tear|UMLS:C0263912|ICD10:M75.1|EFO:1001250																		owl:Class
MONDO:0005438	biolink:NamedThing	metastatic malignant neoplasm in the lymph nodes	The spread of a malignant neoplasm to the lymph nodes.	mondoexuq1wtf	Metastases to lymph nodes|metastatic neoplasm to the lymph node|metastasis to lymph node|metastatic tumor to lymph node|metastatic malignant neoplasm to the lymph nodes											NCIT:C4904|EFO:0004906|UMLS:C0686619																		owl:Class
MONDO:0012306	biolink:NamedThing	cardiomyopathy, familial restrictive, 2		mondoexuq1wtf	cardiomyopathy, familial restrictive, 2|RCM2											OMIM:609578|DOID:0111426|MESH:C566512|UMLS:C1865071																		owl:Class
MONDO:0006364	biolink:NamedThing	peritoneal well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.	mondoexuq1wtf	peritoneal well differentiated papillary mesothelioma|peritoneal WDPM											UMLS:C1709507|NCIT:C45661|EFO:1000469																		owl:Class
MONDO:0002388	biolink:NamedThing	intracystic papillary adenoma	A papillary epithelial neoplasm arising in a cystically dilated breast duct.	mondoexuq1wtf	intracystic papilloma|intracystic papillary adenoma|intracystic papillary adenoma (morphologic abnormality)											DOID:2682|UMLS:C0334374|ICDO:8504/0|NCIT:C4191																		owl:Class
MONDO:0020463	biolink:NamedThing	isolated congenital ectropion	A congenital ectropion that is not part of a larger syndrome.	mondoexuq1wtf	nonsyndromic congenital ectropion											ICD10:Q10.1|Orphanet:99171																		owl:Class
MONDO:0060490	biolink:NamedThing	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		mondoexuq1wtf	NMIHBA|neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies											UMLS:C4479566|OMIM:617481																		owl:Class
MONDO:0002107	biolink:NamedThing	unilateral hyperactive labyrinth		mondoexuq1wtf	hyperactive labyrinth, unilateral|hyperactive unilateral labyrinthine dysfunction											ICD9:386.51|DOID:1777|UMLS:C0155515																		owl:Class
MONDO:0015841	biolink:NamedThing	partial septate uterus	Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.	mondoexuq1wtf	uterus subseptus|subtotal septate uterus											Orphanet:180129|ICD10:Q51.2|SCTID:5364006																		owl:Class
MONDO:0008545	biolink:NamedThing	thalassemia, beta+, silent allele		mondoexuq1wtf	thalassemia, beta+, silent allele											OMIM:187550|UMLS:C1861232|MESH:C566065																		owl:Class
MONDO:0002896	biolink:NamedThing	primary syphilis	The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.	mondoexuq1wtf	symptomatic early syphilis|early symptomatic syphilis|early syphilis, symptomatic											NCIT:C128412|DOID:4156|UMLS:C0153139|UMLS:C2931317|MESH:C536772|SCTID:186846005|COHD:433410|ICD9:091																		owl:Class
MONDO:0010207	biolink:NamedThing	woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome		mondoexuq1wtf	wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|Salamon syndrome|woolly hair hypotrichosis everted lower lip and outstanding ears											OMIM:278200|SCTID:239023005|Orphanet:1409|GARD:0005594|MESH:C536746																		owl:Class
MONDO:0008984	biolink:NamedThing	ciliary discoordination due to random ciliary orientation		mondoexuq1wtf	Rutland ciliary disorientation syndrome|ciliary discoordination due to random ciliary orientation|ciliary discoordination, due to random ciliary orientation											OMIM:215518|GARD:0001360|SCTID:233667003|ICD9:759.89|MESH:C562757|UMLS:C0340038														https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation				owl:Class
MONDO:0005588	biolink:NamedThing	chemotherapy-induced oral mucositis	Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.	mondoexuq1wtf												EFO:0006313																		owl:Class
MONDO:0012698	biolink:NamedThing	Waardenburg syndrome type 2E	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|WS2E|Waardenburg syndrome type IIE|Waardenburg syndrome, type 2E|SOX10 Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in SOX10|WS2E with or without neurological involvement|Waardenburg syndrome, type 2E, with or without neurologic involvement|Waardenburg syndrome type 2E with or without neurologic involvement|Ws2E, with or without neurologic involvement|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation											UMLS:C2700405|DOID:0110956|OMIM:611584																		owl:Class
MONDO:0006692	biolink:NamedThing	central pontine myelinolysis	A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.	mondoexuq1wtf	osmotic demyelination syndrome											MedDRA:10007968|NCIT:C84623|MESH:D017590|EFO:1000857|ICD9:341.8|UMLS:C0206083|GARD:0008749|DOID:636|ICD10:G37.2|SCTID:6807001																		owl:Class
MONDO:0010960	biolink:NamedThing	protocadherin 3		mondoexuq1wtf	protocadherin type 3|Pcdh3|protocadherin 3											OMIM:600931																		owl:Class
MONDO:0001555	biolink:NamedThing	neonatal thyrotoxicosis	A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.	mondoexuq1wtf	infantile hyperthyroidism											COHD:137099|NCIT:C114906|ICD10:P72.1|ICD9:775.3|UMLS:C0158983|SCTID:13795004|DOID:12573																		owl:Class
MONDO:0010138	biolink:NamedThing	thyrotoxicosis	A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.	mondoexuq1wtf	hyperthyroidism, autoimmune|GRD1|Graves disease, susceptibility to, 1|thyrotoxicosis|Grd					Editor note: TODO separate out predisposition						ICD9:242.90|ICD9:242.80|COHD:138387|ICD9:242|UMLS:C0040156|ICD10:E05.9|DOID:7997|NCIT:C61469|EFO:0009190|OMIM:275000|MESH:D013971|SCTID:90739004																		owl:Class
MONDO:0024519	biolink:NamedThing	renal hypodysplasia/aplasia 1		mondoexuq1wtf	renal dysplasia, megalocystis, and sirenomelia|Selig Benacerraf Greene syndrome|renal agenesis|renal hypodysplasia/aplasia 1|hereditary renal aplasia|RHDA1|renal aplasia|renal adysplasia											GARD:0004791|OMIM:191830																		owl:Class
MONDO:0031003	biolink:NamedThing	hypercholanemia, familial, 2		mondoexuq1wtf	FHCA2|NTCP Deficiency											OMIM:619256																		owl:Class
MONDO:0009185	biolink:NamedThing	amelocerebrohypohidrotic syndrome	Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	mondoexuq1wtf	Kohlschutter-Tonz syndrome|Kohlschutter syndrome|epilepsy-dementia-amelogenesis imperfecta syndrome|epilepsy and Yellow teeth|KTZS|Kohlschutter Tonz syndrome|epilepsy dementia amelogenesis imperfecta|epilepsy, dementia, and amelogenesis imperfecta|KOHLSCHUTTER-Tonz syndrome											OMIM:226750|SCTID:109478007|GARD:0003128|Orphanet:1946|ICD10:G40.8|DOID:0111668|UMLS:C0406740|MESH:C537213																		owl:Class
MONDO:0003522	biolink:NamedThing	male orgasm disorder	Persistent delay or absence in orgasm not accounted for by a medical reason.	mondoexuq1wtf	inhibited male orgasm|male orgasmic disorder											ICD10:F52.32|COHD:444268|SCTID:81903006|NCIT:C34959|DOID:5576																		owl:Class
MONDO:0019789	biolink:NamedThing	cytophagic histiocytic panniculitis	Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.	mondoexuq1wtf	CHP|Winkelmann cytophagic panniculitis											UMLS:C0406594|Orphanet:94087|ICD10:M35.8|SCTID:238883003																		owl:Class
MONDO:0005849	biolink:NamedThing	milk allergic reaction	Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.	mondoexuq1wtf	milk allergic reaction|milk allergy											DOID:4376|EFO:0007369|MESH:D016269|UMLS:C0079840																		owl:Class
MONDO:0006237	biolink:NamedThing	granulocytic sarcoma	A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)	mondoexuq1wtf	granulocytic sarcoma|sarcoma, granulocytic, malignant											NCIT:C35815|EFO:1000286																		owl:Class
MONDO:0017231	biolink:NamedThing	erythropoietic uroporphyria associated with myeloid malignancy		mondoexuq1wtf												ICD10:E80.2|GARD:0010948|Orphanet:280379														https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy				owl:Class
MONDO:0016847	biolink:NamedThing	trisomy 1q	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	mondoexuq1wtf	trisomy type 1q|Duplication 1q											ICD10:Q92.2|SCTID:768927001|Orphanet:261344																		owl:Class
MONDO:0100386	biolink:NamedThing	acute myeloid leukemia, t(v;11q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)	mondoexuq1wtf	AML, t(11;v)(q23;v)|AML, t(V;11)(v;q23)|AML, t(11;v)(q23.3;v)|AML, t(V;11)(v;q23.3)|AML, 11q23.3 Translocation|AML, t(v;11q23.3)																													owl:Class
MONDO:0000328	biolink:NamedThing	hyperphosphatemia	Abnormally high level of phosphate in the blood.	mondoexuq1wtf	hyperphosphatemia|hyperphosphatemia (disease)		hyperphosphatemia (disease)									UMLS:C0085681|SCTID:20165001|DOID:0050459|MESH:D054559|HP:0002905																		owl:Class
MONDO:0012422	biolink:NamedThing	type 1 diabetes mellitus 19	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.	mondoexuq1wtf	insulin-dependent diabetes mellitus 19|diabetes mellitus, insulin-dependent, 19|IDDM19											DOID:0110756|ICD10:E10|UMLS:C1857808|MESH:C565715|OMIM:610155																		owl:Class
MONDO:0021929	biolink:NamedThing	traumatic myositis ossificans	Myositis Ossificans resulting from trauma.	mondoexuq1wtf	myositis ossificans circumscripta|Traumatic myositis ossificans|myositis ossificans traumatica|Myositis ossificans traumatica|Myositis ossificans circumscripta|traumatic myositis ossificans|Traumatic Myositis Ossificans											UMLS:C0040798|NCIT:C35081|ICD9:728.12|SCTID:70917000																		owl:Class
MONDO:0025622	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1		mondoexuq1wtf	CMTMA1											OMIM:500013																		owl:Class
MONDO:0014965	biolink:NamedThing	lethal congenital contracture syndrome 11	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.	mondoexuq1wtf	LCCS11|GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11; LCCS11|lethal congenital contracture arthrogryposis-11|lethal congenital contracture syndrome caused by mutation in GLDN|lethal congenital contracture syndrome 11|lethal congenital contracture syndrome type 11											GARD:0013220|UMLS:C4310670|OMIM:617194																		owl:Class
MONDO:0000916	biolink:NamedThing	intestinal infectious disease	An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.	mondoexuq1wtf	bacterial enteritis											ICD9:001-009.99|SCTID:266071000|ICD10:A00-A09|ICD9:008.8|UMLS:C0152516|UMLS:C0178238|COHD:198678|DOID:100|ICD10:A00.A09																		owl:Class
MONDO:0007358	biolink:NamedThing	comedones, familial Dyskeratotic		mondoexuq1wtf	comedones, familial Dyskeratotic											SCTID:254219004|ICD9:757.39|OMIM:120450|MESH:C562838|UMLS:C0345424																		owl:Class
MONDO:0011322	biolink:NamedThing	Oroacral syndrome, Verloes-Koulischer type		mondoexuq1wtf	Oroacral syndrome, Verloes-Koulischer type											UMLS:C1863879|OMIM:603446|MESH:C566374																		owl:Class
MONDO:0019206	biolink:NamedThing	sparse hair-short stature-skin anomalies syndrome	Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.	mondoexuq1wtf												Orphanet:79132|UMLS:CN205797																		owl:Class
MONDO:0017825	biolink:NamedThing	silent pituitary adenoma		mondoexuq1wtf												ICD10:D35.2|UMLS:CN203795|Orphanet:314786																		owl:Class
MONDO:0030038	biolink:NamedThing	glaucoma, primary closed-angle		mondoexuq1wtf	glaucoma, primary closed-angle|GLCC|GLAUCOMA, PRIMARY CLOSED-ANGLE											OMIM:618880																		owl:Class
MONDO:0009686	biolink:NamedThing	musk, inability to smell		mondoexuq1wtf	musk, inability to smell											UMLS:C1850807|MESH:C564980|OMIM:254150																		owl:Class
MONDO:0100027	biolink:NamedThing	febrile seizures plus, genetic epilepsy with febrile seizures plus	These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members.	mondoexuq1wtf					2018-06-22 23:58:47+00:00		MONDO:0018214																			https://github.com/monarch-initiative/mondo/issues/3442				owl:Class
MONDO:0017076	biolink:NamedThing	posterior meningocele	Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.	mondoexuq1wtf												ICD10:Q05.4|ICD10:Q05.6|ICD10:Q05.9|ICD10:Q05.3|Orphanet:268810|ICD10:Q05.1|ICD10:Q05.7|ICD10:Q05.2|ICD10:Q05.8|UMLS:CN202439																		owl:Class
MONDO:0001491	biolink:NamedThing	cough variant asthma	An asthma that is characterized by chronic nonproductive cough without shortness of breath.	mondoexuq1wtf												DOID:12323|ICD9:493.82|ICD10:J45.991|UMLS:C0694548|COHD:313236|SCTID:409663006																		owl:Class
MONDO:0020837	biolink:NamedThing	oocyte maturation defect 5		mondoexuq1wtf	OOMD5|oocyte maturation defect 5											OMIM:617996																		owl:Class
MONDO:0016310	biolink:NamedThing	Niemann-Pick disease type C, adult neurologic onset		mondoexuq1wtf												UMLS:CN201116|Orphanet:216986|ICD10:E75.2																		owl:Class
MONDO:0000671	biolink:NamedThing	finger agnosia	An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers	mondoexuq1wtf	finger agnosia (disease)|finger agnosia|manual digit agnosia		finger agnosia (disease)			It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50.						HP:0010525|DOID:0060141																		owl:Class
MONDO:0008806	biolink:NamedThing	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	mondoexuq1wtf	Johnson-Munson syndrome|Johnson Munson syndrome|APHALANGY with hemivertebrae|Aphalangy of the hands and feet, hemivertebrae, and visceral malformations											ICD10:Q87.8|SCTID:733118006|OMIM:207620|Orphanet:1112|UMLS:C1859754|MESH:C535881|GARD:0003051																		owl:Class
MONDO:0001805	biolink:NamedThing	female breast central part cancer		mondoexuq1wtf	malignant neoplasm of central part of female breast|malignant neoplasm of central portion of female breast											DOID:13799|ICD9:174.1|SCTID:188151006|UMLS:C0153549|ICD10:C50.11																		owl:Class
MONDO:0020455	biolink:NamedThing	congenital partial agenesis of pericardium	Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.	mondoexuq1wtf												Orphanet:99130|ICD10:Q24.8																		owl:Class
MONDO:0054862	biolink:NamedThing	premature ovarian failure 15		mondoexuq1wtf	POF15|premature ovarian failure 15											OMIM:618096																		owl:Class
MONDO:0006438	biolink:NamedThing	synovial chondromatosis	Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.	mondoexuq1wtf	Reichel's syndrome|synovial osteochondromatosis|Henderson-Jones syndrome											GARD:0006054|UMLS:C0008476|NCIT:C34467|EFO:1000557|MESH:D015838														https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis				owl:Class
MONDO:0013062	biolink:NamedThing	long QT syndrome 12	Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.	mondoexuq1wtf	SNTA1 long QT syndrome|long QT syndrome caused by mutation in SNTA1|long QT syndrome type 12|long QT syndrome 12|LQT12											OMIM:612955|DOID:0110653|MESH:C567842|ICD10:I45.8|UMLS:C2751830																		owl:Class
MONDO:0011470	biolink:NamedThing	hyperlipidemia, combined, 2		mondoexuq1wtf	hyperlipidemia, combined, 2|hyplip2|hyperlipidemia, combined, type 2|hyperlipidemia, familial combined, 2											UMLS:C1858308|MESH:C565766|OMIM:604499																		owl:Class
MONDO:0018629	biolink:NamedThing	focal stiff limb syndrome		mondoexuq1wtf	Stiff leg syndrome|focal stiff-person syndrome											Orphanet:443804|ICD10:G25.8|UMLS:CN237672																		owl:Class
MONDO:0032788	biolink:NamedThing	cerebellar atrophy with seizures and variable developmental delay		mondoexuq1wtf	CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY|CASVDD											OMIM:618501																		owl:Class
MONDO:0001719	biolink:NamedThing	gonococcal bursitis	An bursitis caused by infection with Neisseria gonorrhoeae.	mondoexuq1wtf	Neisseria gonorrhoeae bursitis|Neisseria gonorrhoeae caused bursitis											ICD10:A54.49|ICD9:098.52|DOID:13453|UMLS:C0153218|ICD10:M73.0|SCTID:46699001																		owl:Class
MONDO:0014394	biolink:NamedThing	Diamond-Blackfan anemia 13	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.	mondoexuq1wtf	Diamond-Blackfan anemia caused by mutation in RPS29|DBA13|Diamond-Blackfan anemia 13|RPS29 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 13											UMLS:C4014641|OMIM:615909																		owl:Class
MONDO:0013622	biolink:NamedThing	platelet-type bleeding disorder 9	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.	mondoexuq1wtf	collagen platelet receptor deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency|bleeding disorder, platelet-type, 9|glycoprotein Ia deficiency|ITGA2 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|BDPLT9|GP Ia deficiency											ICD10:D69.8|MESH:C566000|Orphanet:98886|OMIM:614200|DOID:0111045																		owl:Class
MONDO:0006614	biolink:NamedThing	subcorneal pustular dermatosis	A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.	mondoexuq1wtf	Sneddon-Wilkinson disease or syndrome|subcorneal pustular dermatosis|subcorneal pustular dermatitis|Sneddon-Wilkinson disease|pustulosis subcornealis											UMLS:C0600336|SCTID:25147002|MedDRA:10042342|Orphanet:48377|DOID:8508|EFO:1000771|ICD10:L13.1|ICD9:694.1|COHD:134117																		owl:Class
MONDO:0008122	biolink:NamedThing	olivopontocerebellar atrophy 5		mondoexuq1wtf	olivopontocerebellar atrophy V|OPCA V|olivopontocerebellar atrophy type 5|OPCA with dementia and extrapyramidal signs											OMIM:164700|MESH:C563505|UMLS:C1833995																		owl:Class
MONDO:0010743	biolink:NamedThing	thrombocytopenia 1		mondoexuq1wtf	X-linked thrombocytopenia|THC1|XLT|thrombocytopenia type 1|THC|thrombocytopenia 1|X-linked thrombocytopenia with normal platelets|thrombocytopenia, X-linked, 1|thrombocytopenia, X-linked, intermittent|thrombocytopenia, X-linked											OMIM:313900|Orphanet:852|UMLS:C1839163|GARD:0005176|ICD10:D69.4																		owl:Class
MONDO:0017057	biolink:NamedThing	hereditary thrombocytopenia with normal platelets		mondoexuq1wtf												ICD10:D69.4|UMLS:CN227073|Orphanet:268322																		owl:Class
MONDO:0019449	biolink:NamedThing	lissencephaly type 3-familial fetal akinesia sequence syndrome	Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	mondoexuq1wtf												Orphanet:86821|ICD10:Q04.3|UMLS:CN227635|SCTID:718719001																		owl:Class
MONDO:0018556	biolink:NamedThing	Lambert-Eaton myasthenic syndrome	Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).	mondoexuq1wtf	LEMS|Eaton Lambert syndrome|myasthenic-myopathic syndrome of Lambert-Eaton|Lambert Eaton syndrome|Lambert-Eaton syndrome|Lambert Eaton myasthenic syndrome|myasthenic syndrome of Lambert-Eaton|Eaton-Lambert syndrome											DOID:0050214|ICD9:358.3|UMLS:C0022972|ICD10:G73.1|NCIT:C3155|Orphanet:43393|MedDRA:10067685|MESH:D015624|SCTID:56989000|GARD:0006851|ICD10:G70.80														https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome				owl:Class
MONDO:0015732	biolink:NamedThing	intermediate anorectal malformation	Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.	mondoexuq1wtf												ICD10:Q42.0|Orphanet:171208|ICD10:Q42.1|SCTID:734024009																		owl:Class
MONDO:0012692	biolink:NamedThing	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies		mondoexuq1wtf	renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies											UMLS:C1969055|MESH:C566918|OMIM:611555																		owl:Class
MONDO:0001015	biolink:NamedThing	eosinophilic meningitis	Meningitis in which eosinophils predominate in the cerebrospinal fluid.	mondoexuq1wtf												NCIT:C128374|DOID:10361|COHD:443746|SCTID:25671008|ICD9:322.1|UMLS:C0154652																		owl:Class
MONDO:0022859	biolink:NamedThing	cor biloculare	A congenital anatomic anomaly in which the heart has only two chambers.	mondoexuq1wtf	TWO-chambered heart|Cor Biloculare|cor biloculare|absence of atrial and ventricular septa											ICD9:745.7|GARD:0006193|UMLS:C0152238|NCIT:C124591|SCTID:81990004														https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare				owl:Class
MONDO:0001864	biolink:NamedThing	residual stage angle-closure glaucoma		mondoexuq1wtf	residual stage of angle-closure glaucoma											COHD:436109|ICD10:H40.24|SCTID:55129006|UMLS:C0154948|DOID:1404|ICD9:365.24																		owl:Class
MONDO:0008838	biolink:NamedThing	ataxia - deafness - intellectual disability syndrome	This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.	mondoexuq1wtf	Reardon-Baraitser syndrome|Reardon Wilson Cavanagh syndrome|ataxia-deafness-retardation syndrome|ataxia, hearing loss, and intellectual disability|Adr syndrome|familial ataxia, deafness, and developmental delay|ataxia, hearing loss, and mental retardation|ataxia-hearing loss-intellectual disability syndrome											ICD10:G11.1|MESH:C535295|Orphanet:1188|SCTID:720517001|GARD:0004644|OMIM:208850																		owl:Class
MONDO:0033198	biolink:NamedThing	deafness, autosomal recessive 106		mondoexuq1wtf	deafness, autosomal recessive 106|autosomal recessive nonsyndromic deafness 106|DFNB106											DOID:0080261|OMIM:617637																		owl:Class
MONDO:0007581	biolink:NamedThing	exchondrosis of pinna, posterior		mondoexuq1wtf	Ear bump|exchondrosis of pinna, posterior											MESH:C565036|OMIM:133500|UMLS:C1851463																		owl:Class
MONDO:0007016	biolink:NamedThing	vitamin A deficiency	Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.	mondoexuq1wtf	vitamin A deficiencies|deficiency, vitamin A|vitamin A deficiency|vitamin A deficiency (disease)|deficiencies, vitamin A		vitamin A deficiency (disease)									ICD9:264.9|SCTID:72000004|UMLS:C0042842|NCIT:C85220|ICD9:264|ICD9:264.8|HP:0004905|EFO:1001237|MedDRA:10047586|MESH:D014802																		owl:Class
MONDO:0001273	biolink:NamedThing	megacolon	An abnormal dilation of the colon not due to obstruction.	mondoexuq1wtf	dilatation of colon											SCTID:33995003|NCIT:C34810|ICD9:564.7|ICD10:K59.3|DOID:11372|MESH:D008531																		owl:Class
MONDO:0008067	biolink:NamedThing	nasopharyngeal carcinoma, susceptibility to, 2		mondoexuq1wtf	nasopharyngeal carcinoma, susceptibility to, 2|Npca2|nasopharyngeal carcinoma, susceptibility to, type 2|NPCA2											UMLS:C2750548|GARD:0007163|OMIM:161550																		owl:Class
MONDO:0008766	biolink:NamedThing	amaurosis-hypertrichosis syndrome	Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.	mondoexuq1wtf	amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis											GARD:0000637|MESH:C536604|Orphanet:1021|ICD10:H35.5|SCTID:720983002|OMIM:204110														https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis				owl:Class
MONDO:0000483	biolink:NamedThing	oculogyric crisis	A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.	mondoexuq1wtf												DOID:0050842																		owl:Class
MONDO:0012889	biolink:NamedThing	sarcoidosis, susceptibility to, 3		mondoexuq1wtf	SS3|sarcoidosis, susceptibility to, 3											OMIM:612388																		owl:Class
MONDO:0017250	biolink:NamedThing	congenital pulmonary airway malformation type 2		mondoexuq1wtf	congenital cystic adenomatous malformation of the lung type 2|congenital cystic adenomatoid malformation of the lung type 2|CCAM type 2|congenital cystic disease of the lung type 2|CPAM type 2											Orphanet:280840|ICD10:Q33.0																		owl:Class
MONDO:0003712	biolink:NamedThing	angiokeratoma of mibelli		mondoexuq1wtf												SCTID:62727008|DOID:5948|UMLS:C0263640|NCIT:C3927																		owl:Class
MONDO:0008956	biolink:NamedThing	congenital neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.	mondoexuq1wtf	ceroid storage disease|congenital NCL|lipofuscin storage disease											SCTID:720830009|OMIM:214200|ICD10:E75.4|GARD:0009447|Orphanet:168486																		owl:Class
MONDO:0032659	biolink:NamedThing	mucocutaneous ulceration, chronic		mondoexuq1wtf	CMCU|MUCOCUTANEOUS ULCERATION, CHRONIC											OMIM:618287																		owl:Class
MONDO:0009362	biolink:NamedThing	growth delay-hydrocephaly-lung hypoplasia syndrome	Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	mondoexuq1wtf	game Friedman Paradice syndrome|hydrocephalus with associated malformations|retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities|game-Friedman-Paradice syndrome											MESH:C535406|UMLS:C1856052|OMIM:236640|GARD:0002427|Orphanet:3035|SCTID:716198008|ICD10:Q87.8																		owl:Class
MONDO:0004639	biolink:NamedThing	perinatal necrotizing enterocolitis	A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.	mondoexuq1wtf	enterocolitis necrotizing|enterocolitis, necrotizing|pseudomembranous enterocolitis in newborn|necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn|perinatal necrotising enterocolitis											SCTID:397729009|GARD:0009767|DOID:8677																		owl:Class
MONDO:0005348	biolink:NamedThing	keloid	An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.	mondoexuq1wtf												ICD9:701.4|EFO:0004212|NCIT:C3145|SCTID:33659008|MESH:D007627																		owl:Class
MONDO:0033261	biolink:NamedThing	deafness, autosomal dominant 34, with or without inflammation		mondoexuq1wtf	DFNA34|deafness, autosomal dominant 34, with or without inflammation|autosomal dominant nonsyndromic deafness 34											UMLS:CN653906|DOID:0080270|OMIM:617772																		owl:Class
MONDO:0013328	biolink:NamedThing	retinitis pigmentosa 58	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.	mondoexuq1wtf	RP58|retinitis pigmentosa type 58|retinitis pigmentosa caused by mutation in ZNF513|ZNF513 retinitis pigmentosa|retinitis pigmentosa 58											UMLS:C3150879|OMIM:613617|DOID:0110362|ICD10:H35.5																		owl:Class
MONDO:0023011	biolink:NamedThing	Wilson-Mikity syndrome		mondoexuq1wtf	Pulmonary dysmaturity|Wilson-Mikity syndrome|wilson-mikity syndrome|Pulmonary dysmaturity syndrome|pulmonary dysmaturity											GARD:0010495|SCTID:51577008|UMLS:C0270171																		owl:Class
MONDO:0017044	biolink:NamedThing	adult familial nephronophthisis-spastic quadriparesia syndrome	This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.	mondoexuq1wtf												Orphanet:2666|UMLS:CN202376																		owl:Class
MONDO:0030977	biolink:NamedThing	neuropathy, hereditary motor, with myopathic features		mondoexuq1wtf	HMNMYO											OMIM:619216																		owl:Class
MONDO:0016690	biolink:NamedThing	pleomorphic xanthoastrocytoma	A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.	mondoexuq1wtf	pleomorphic Xantho-astrocytoma|PXA											UMLS:C0334586|ICD10:C71.9|NCIT:C4323|ONCOTREE:PXA|Orphanet:251607|DOID:4852|GARD:0010631|ICDO:9424/3|ICD10:C79.1														https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma				owl:Class
MONDO:0018128	biolink:NamedThing	phalangeal microgeodic syndrome	Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	mondoexuq1wtf	phalangeal osteolysis											UMLS:CN204506|ICD10:M89.5|Orphanet:352636																		owl:Class
MONDO:0014393	biolink:NamedThing	lymphedema, hereditary, 1D	Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.	mondoexuq1wtf	hereditary lymphedema caused by mutation in VEGFC|LMPH1D|lymphedema, hereditary, ID|VEGFC hereditary lymphedema|lymphedema, hereditary, type 1D											OMIM:615907|UMLS:C4014628|DOID:0070209																		owl:Class
MONDO:0004529	biolink:NamedThing	non-ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.	mondoexuq1wtf	nonossifying fibromyxoid tumor|nonossifying fibromyxoma|nonossifying fibromyxoid neoplasm											DOID:8305|NCIT:C6583|UMLS:C1335063																		owl:Class
MONDO:0012034	biolink:NamedThing	autosomal dominant limb-girdle muscular dystrophy type 1F	Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	mondoexuq1wtf	muscular dystrophy, limb-girdle, type 1F|LGMD1F|muscular dystrophy limb-girdle type 1F|limb-girdle muscular dystrophy type 1F											MESH:C564242|OMIM:608423|ICD10:G71.0|GARD:0012530|SCTID:719989007|Orphanet:55595|DOID:0110304																		owl:Class
MONDO:0013709	biolink:NamedThing	intellectual disability, autosomal recessive 28		mondoexuq1wtf	intellectual disability, autosomal recessive 28|MRT28|mental retardation, autosomal recessive 28											OMIM:614347|UMLS:C3280545																		owl:Class
MONDO:0008834	biolink:NamedThing	asthma, nasal polyps, and aspirin intolerance		mondoexuq1wtf	asthma and nasal polyps|asthma, nasal polyps, and aspirin intolerance|asthma, aspirin-induced, susceptibility to|Asa triad											OMIM:208550|UMLS:C1859648|DOID:0111579																		owl:Class
MONDO:0013284	biolink:NamedThing	immunodeficiency, common variable, 4		mondoexuq1wtf	immunodeficiency, common variable, type 4|immunodeficiency, common variable, 4|CVID4|antibody deficiency due to Baffr defect											OMIM:613494|UMLS:C3150739																		owl:Class
MONDO:0043131	biolink:NamedThing	michels caskey syndrome		mondoexuq1wtf	Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities|Mullerian aplasia with hypoplastic thumbs											MESH:C537576|GARD:0003590|UMLS:C2931537																		owl:Class
MONDO:0011352	biolink:NamedThing	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia		mondoexuq1wtf	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia											MESH:C566352|OMIM:603641|UMLS:C1863649																		owl:Class
MONDO:0001075	biolink:NamedThing	steatorrhea	A finding of an excessive amount of fat in the stool.	mondoexuq1wtf	fatty stool|steatorrhea (disease)|fatty stool (finding)|steatorrhea		steatorrhea (disease)									DOID:10602|HP:0002570|SCTID:27868004|MESH:D045602|NCIT:C86917																		owl:Class
MONDO:0012566	biolink:NamedThing	autism, susceptibility to, 11		mondoexuq1wtf	AUTS11|autism, susceptibility to, 11											OMIM:610836																		owl:Class
MONDO:0010625	biolink:NamedThing	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein		mondoexuq1wtf	Gpl115 deficiency|immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein											MESH:C564120|OMIM:308220|UMLS:C1839982																		owl:Class
MONDO:0015000	biolink:NamedThing	developmental and epileptic encephalopathy, 48	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.	mondoexuq1wtf	DEE48|epileptic encephalopathy, early infantile, 48; EIEE48|AP3B2 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, type 48|EIEE48|epileptic encephalopathy, early infantile, 48											UMLS:C4310637|OMIM:617276|DOID:0080448																		owl:Class
MONDO:0018315	biolink:NamedThing	X-linked osteoporosis with fractures		mondoexuq1wtf												ICD10:M80.5|Orphanet:391330																		owl:Class
MONDO:0013212	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2N	Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|autosomal dominant Charcot-Marie-Tooth disease type 2N|CMT2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|Charcot-Marie-Tooth disease, axonal, type 2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS|AARS Charcot-Marie-Tooth disease type 2											ICD10:G60.0|SCTID:719515001|OMIM:613287|GARD:0012429|DOID:0110177|MESH:C567653|UMLS:C2750090|UMLS:C4304671|Orphanet:228174																		owl:Class
MONDO:0032870	biolink:NamedThing	intellectual developmental disorder with short stature and behavioral abnormalities		mondoexuq1wtf	IDDSSBA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES											DOID:0111674|OMIM:618687																		owl:Class
MONDO:0023607	biolink:NamedThing	Laurence-Prosser-Rocker syndrome		mondoexuq1wtf	Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly|Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect											MESH:C537882|UMLS:C2931651|GARD:0003201														https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome				owl:Class
MONDO:0006466	biolink:NamedThing	thyroid gland spindle cell tumor with thymus-like differentiation	A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.	mondoexuq1wtf	settle|spindle epithelial tumor with thymus-like differentiation tumor|settle tumor											ICDO:8588/3|EFO:1000593|UMLS:C1266099|DOID:0050923|NCIT:C46105																		owl:Class
MONDO:0020084	biolink:NamedThing	lymphoproliferative disease associated with primary immune disease		mondoexuq1wtf												UMLS:CN206986|Orphanet:98291|ICD10:D47.9																		owl:Class
MONDO:0018989	biolink:NamedThing	recurrent acute pancreatitis	Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.	mondoexuq1wtf												MedDRA:10033657|ICD10:K85.9|Orphanet:64740|ICD10:K85.3|ICD10:K85.1|SCTID:197458008|ICD10:K85.2|UMLS:C0267937|ICD10:K85.0|ICD10:K85.8																		owl:Class
MONDO:0011576	biolink:NamedThing	familial hyperaldosteronism type II	Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.	mondoexuq1wtf	familial hyperaldosteronism type 2|FH 2|hyperaldosteronism, familial, type II|FH2|familial adrenal adenoma|HALD2|FHII|FH-II											UMLS:C3839212|UMLS:C1854107|MESH:C565312|Orphanet:404|ICD10:E26.0|OMIM:605635|NCIT:C127162|SCTID:703233008|GARD:0002789																		owl:Class
MONDO:0011329	biolink:NamedThing	cerebral palsy, spastic quadriplegic, 1	Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene.	mondoexuq1wtf	spastic tetraplegia cerebral palsy|spastic quadriplegia caused by mutation in GAD1|CPSQ1|GAD1 spastic quadriplegia|spastic quadriplegia cerebral palsy|spastic quadriplegic cerebral palsy|cerebral palsy, spastic quadriplegic, 1|cerebral palsy spastic quadriplegic|cerebral palsy, spastic quadriplegic, type 1											UMLS:C2751938|MESH:C567853|GARD:0010447|OMIM:603513														https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic				owl:Class
MONDO:0001471	biolink:NamedThing	histoplasmosis meningitis	An infectious meningitis caused by infection with Histoplasma capsulatum.	mondoexuq1wtf	histoplasmosis with meningitis|Histoplasma capsulatum infectious meningitis|Histoplasma capsulatum caused infectious meningitis											DOID:12246|ICD9:115.91																		owl:Class
MONDO:0006534	biolink:NamedThing	cholinergic urticaria	A type of physical urticarias (or hives) that appears when a person is sweating.	mondoexuq1wtf												DOID:14443|Wikipedia:Cholinergic_urticaria|SCTID:73098005|UMLS:C0152230|ICD9:708.5|ICD10:L50.5|EFO:1000679|COHD:138501																		owl:Class
MONDO:0013628	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 3	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive 17|HPMRS3|hyperphosphatasia with intellectual disability syndrome 3|mental retardation, autosomal recessive 17|intellectual disability, autosomal recessive 21|glycosylphosphatidylinositol biosynthesis defect 8|hyperphosphatasia with mental retardation syndrome type 3|mental retardation, autosomal recessive 21|hyperphosphatasia with mental retardation syndrome 3|hyperphosphatasia with intellectual disability syndrome type 3|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|PGAP2 hyperphosphatasia-intellectual disability syndrome											OMIM:614207|UMLS:C3280153																		owl:Class
MONDO:0002119	biolink:NamedThing	ossifying fibroma	A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.	mondoexuq1wtf	cemento-ossifying fibroma|ossifying fibroma|fibroma, ossifying, benign|fibro-osteoma|ossifying fibroma (disease)|Cementifying fibroma|peripheral ossifying fibroma|juvenile ossifying fibroma		ossifying fibroma (disease)									DOID:180|UMLS:C0206640|HP:0030426|ICDO:9274/0|NCIT:C8422|ICDO:9262/0|MESH:D018214|GARD:0012792|EFO:0007412																		owl:Class
MONDO:0014012	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2Q	Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	mondoexuq1wtf	autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy type 2Q|DHTKD1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth neuropathy, type 2Q|CMT2Q|Charcot-Marie-Tooth disease type 2Q|autosomal dominant Charcot-Marie-Tooth disease type 2Q											DOID:0110170|GARD:0012446|ICD10:G60.0|UMLS:C3554366|Orphanet:329258|OMIM:615025																		owl:Class
MONDO:0021923	biolink:NamedThing	Arroyo Garcia Cimadevilla syndrome	A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum).	mondoexuq1wtf	bilateral anophthalmia, esophageal atresia, and right cryptorchidism											GARD:0000771|MESH:C537439|UMLS:C2931494														https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome				owl:Class
MONDO:0021513	biolink:NamedThing	benign neoplasm of tonsil	A benign neoplasm that involves the tonsil.	mondoexuq1wtf	benign tumor of tonsil|benign tumor of the tonsil|benign tonsillar tumor|benign tonsillar neoplasm|benign tonsil neoplasm|benign neoplasm of the tonsil|benign tonsil tumor|tonsil benign neoplasm|tonsillar neoplasm, benign											ICD9:210.5|NCIT:C3594|ICD10:D10.4|SCTID:92263001|UMLS:C0153936																		owl:Class
MONDO:0003231	biolink:NamedThing	acute nonparalytic poliomyelitis	A poliomyelitis that does not exhibit paralysis.	mondoexuq1wtf	nonparalytic poliomyelitis|non-paralytic aseptic meningitis|acute nonparalytic poliomyelitis											SCTID:14535005|ICD9:045.22|ICD9:045.2|ICD9:045.20|ICD9:045.23|UMLS:C0152998|DOID:4986|ICD10:A80.4																		owl:Class
MONDO:0005436	biolink:NamedThing	postoperative ventricular dysfunction	Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.	mondoexuq1wtf												EFO:0004889																		owl:Class
MONDO:0043197	biolink:NamedThing	ruvalcaba churesigaew myhre syndrome		mondoexuq1wtf	onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis											GARD:0004747|MESH:C537190|UMLS:C2931437																		owl:Class
MONDO:0023124	biolink:NamedThing	familial pulmonary arterial hypertension leucopenia and atrial septal defect		mondoexuq1wtf	familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD											GARD:0010455														https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect				owl:Class
MONDO:0003127	biolink:NamedThing	embryoma		mondoexuq1wtf	blastoma					Editor note: consider merging with parent class. Wikipedia says: It is not a precise term, and it is not commonly used in modern medical literature. Embryomas have been defined as: "Adult neoplasms expressing one or more embryo-exclusive genes"						UMLS:C0936282|DOID:4766																		owl:Class
MONDO:0003211	biolink:NamedThing	nasal cavity adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the nasal cavity	mondoexuq1wtf	adenocarcinoma of nasal cavity|nasal cavity adenocarcinoma|adenocarcinoma of the nasal cavity											UMLS:C1334920|DOID:4930|NCIT:C6015																		owl:Class
MONDO:0006351	biolink:NamedThing	parachordoma	A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.	mondoexuq1wtf	parachordoma											EFO:1000452|ICDO:9373/0|SCTID:404086000|UMLS:C1266175|ICDO:9373/1|DOID:2647|NCIT:C6581																		owl:Class
MONDO:0020401	biolink:NamedThing	congenital unguarded mitral orifice	Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.	mondoexuq1wtf												Orphanet:99060|ICD10:Q23.3																		owl:Class
MONDO:0014376	biolink:NamedThing	intellectual disability, autosomal dominant 27		mondoexuq1wtf	autosomal dominant intellectual disability 27|intellectual disability, autosomal dominant 27|autosomal dominant non-syndromic intellectual disability 27|intellectual disability, autosomal dominant type 27|mental retardation, autosomal dominant type 27|autosomal dominant mental retardation 27|mental retardation, autosomal dominant 27|MRD27											OMIM:615866|DOID:0070057|UMLS:C4014528																		owl:Class
MONDO:0011434	biolink:NamedThing	psoriasis 5, susceptibility to		mondoexuq1wtf	PSORS5|psoriasis 5, susceptibility to											DOID:0111282|OMIM:604316																		owl:Class
MONDO:0008573	biolink:NamedThing	tibial torsion, bilateral medial		mondoexuq1wtf	tibial torsion, bilateral medial											OMIM:188800|UMLS:C1861097|MESH:C566045																		owl:Class
MONDO:0008469	biolink:NamedThing	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	mondoexuq1wtf	Whyte syndrome|spondyloepimetaphyseal dysplasia with hypotrichosis|Whyte Petersen McAlister syndrome											UMLS:C1866728|MESH:C535783|Orphanet:168443|ICD10:Q77.7|GARD:0010101|OMIM:183849																		owl:Class
MONDO:0013018	biolink:NamedThing	keratosis follicularis spinulosa decalvans, autosomal dominant		mondoexuq1wtf	KFSD|keratosis follicularis spinulosa decalvans, autosomal dominant|keratosis follicularis SPINULOSA decalvans, autosomal dominant											OMIM:612843|MESH:C567553|UMLS:C2748527																		owl:Class
MONDO:0002331	biolink:NamedThing	nephrosis	Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.	mondoexuq1wtf	Nephroses											MESH:D009401|UMLS:C0027720|DOID:2527																		owl:Class
MONDO:0003055	biolink:NamedThing	secretory meningioma	A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.	mondoexuq1wtf	secretory meningioma (morphologic abnormality)|secretory meningioma											EFO:1000522|DOID:4588|UMLS:C1384406|NCIT:C4718																		owl:Class
MONDO:0030048	biolink:NamedThing	harderoporphyria		mondoexuq1wtf	HARPO|harderoporphyria|HARDEROPORPHYRIA											OMIM:618892																		owl:Class
MONDO:0008062	biolink:NamedThing	narcolepsy 1	A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.	mondoexuq1wtf	narcolepsy caused by mutation in HCRT|cataplexy|narcolepsy type 1|narcolepsy 1|narcoleptic syndrome 1|HCRT narcolepsy|NRCLP1											SCTID:46263000|NCIT:C84618|UMLS:C1834372|OMIM:161400																		owl:Class
MONDO:0018304	biolink:NamedThing	Schnitzler syndrome	Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.	mondoexuq1wtf	chronic urticaria with gammopathy|chronic urticaria with gammapathy|chronic urticaria with macroglobulinemia											GARD:0012390|DOID:4371|EFO:1001165|MedDRA:10062908|ICD9:708.8|UMLS:C0524988|Orphanet:37748|MESH:D019873|ICD10:L50.8|SCTID:402415001														https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome				owl:Class
MONDO:0006458	biolink:NamedThing	thymoma type B3	Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.	mondoexuq1wtf	thymoma type B3|thymoma, epithelial|squamoid thymoma|atypical thymoma|well-differentiated thymic carcinoma|epithelial thymoma|malignant thymoma type B3|well differentiated thymic carcinoma|epithelial malignant thymoma											ICDO:8585/3|DOID:7926|EFO:1000583|UMLS:C0279705|NCIT:C7997|ICDO:8585/1																		owl:Class
MONDO:0012822	biolink:NamedThing	colorectal cancer, susceptibility to, 6		mondoexuq1wtf	colorectal cancer, susceptibility to, 6|CRCS6|colorectal cancer, susceptibility to, on chromosome 8Q23											OMIM:612231																		owl:Class
MONDO:0004618	biolink:NamedThing	diplegia of upper limb		mondoexuq1wtf	diplegia, upper|diplegia of upper limbs											SCTID:54099005|ICD10:G83.0|ICD9:344.2|DOID:862|UMLS:C0154701																		owl:Class
MONDO:0016675	biolink:NamedThing	distal arthrogryposis type 10		mondoexuq1wtf	short Achilles tendon|tendo calcaneus, short|plantar flexion contracture|DA10|arthrogryposis, distal, type 10|short tendo calcaneus|congenital plantar contractures|distal arthrogryposis type 10											DOID:0111593|Orphanet:251515|SCTID:275336002|OMIM:187370|UMLS:C1861238|ICD10:Q68.8|MESH:C566069																		owl:Class
MONDO:0019506	biolink:NamedThing	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	mondoexuq1wtf												UMLS:CN227640|SCTID:722051004|Orphanet:88643																		owl:Class
MONDO:0024358	biolink:NamedThing	complex sleep apnea	A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.	mondoexuq1wtf	mixed sleep apnea|CompSAS|complex sleep apnea											SCTID:230493001|DOID:0080302																		owl:Class
MONDO:0019583	biolink:NamedThing	localized lichen myxedematosus with mixed features of different subtypes	Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.	mondoexuq1wtf												Orphanet:90398|ICD10:L98.5																		owl:Class
MONDO:0010260	biolink:NamedThing	arthrogryposis, congenital, lower limb, X-linked		mondoexuq1wtf	arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V, formerly|ACLLX|arthrogryposis, X-linked, type V											MESH:C564574|OMIM:300158|UMLS:C1846273																		owl:Class
MONDO:0013061	biolink:NamedThing	myofibrillar myopathy 6	Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.	mondoexuq1wtf	BAG3-related myofibrillar myopathy|myopathy, myofibrillar, type 6|muscular dystrophy, Selcen type|myofibrillar myopathy (disease) caused by mutation in BAG3|MFM6|myofibrillar myopathy type 6|BAG3 myofibrillar myopathy (disease)|myopathy, myofibrillar, Bag3-related|myopathy, myofibrillar, 6											Orphanet:199340|ICD10:G71.8|DOID:0080097|MESH:C567843|OMIM:612954																		owl:Class
MONDO:0015629	biolink:NamedThing	von Willebrand disease type 2B	Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.	mondoexuq1wtf	von Willebrand disease, type 2B											UMLS:C1282971|ICD10:D68.0|NCIT:C131687|Orphanet:166087|SCTID:359721009|SCTID:359717002																		owl:Class
MONDO:0018594	biolink:NamedThing	secondary polyarteritis nodosa	Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).	mondoexuq1wtf	Scondary PAN|secondary PAN|secondary periarteritis nodosa											Orphanet:439746|ICD10:M30.8|UMLS:CN237624																		owl:Class
MONDO:0020572	biolink:NamedThing	complex regional pain syndrome type 2	Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.	mondoexuq1wtf	Complex regional pain syndrome, type II|CRPS II|Complex regional pain syndrome II|causalgia											UMLS:C0007462|ICD10:G56.4|MedDRA:10064335|NCIT:C121572|SCTID:408751001|MESH:D002422|EFO:1000854|MedDRA:10007825|Orphanet:99994|DOID:3222																		owl:Class
MONDO:0011077	biolink:NamedThing	microcephaly, corpus callosum dysgenesis, and cleft lip/palate		mondoexuq1wtf	microcephaly, facial clefting, and preaxial polydactyly|microcephaly, corpus callosum dysgenesis and cleft lip-palate|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation|microcephaly, corpus callosum dysgenesis, and cleft lip/palate											GARD:0003614|OMIM:601420|MESH:C537547|UMLS:C1832369														https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate				owl:Class
MONDO:0021548	biolink:NamedThing	total early-onset cataract		mondoexuq1wtf	cataract, total congenital with posterior sutural opacities in heterozygotes|cataract, total congenital|CCT											GARD:0001159|Orphanet:98994|ICD10:Q12.0																		owl:Class
MONDO:0001232	biolink:NamedThing	orbital osteomyelitis		mondoexuq1wtf	orbital osteomyelitis											DOID:11232|UMLS:C0155258|SCTID:65875003|ICD10:H05.02|ICD9:376.03																		owl:Class
MONDO:0005855	biolink:NamedThing	molluscum contagiosum	A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)	mondoexuq1wtf												DOID:8867|ICD10:B08.1|UMLS:C0026393|MESH:D008976|EFO:0007375|ICD9:078.0|SCTID:40070004																		owl:Class
MONDO:0006989	biolink:NamedThing	suppurative periapical periodontitis	Localized collection of pus in the tissues that enclose the root of a tooth.	mondoexuq1wtf	dentoalveolar abscess|periapical dental abscess|apical abscess|suppurative apical periodontitis|periapical abscess											MESH:D010482|UMLS:C0031024|EFO:1001202|NCIT:C34913|DOID:2562																		owl:Class
MONDO:0010951	biolink:NamedThing	dilated cardiomyopathy 1B	A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.	mondoexuq1wtf	cardiomyopathy, dilated, 1B|cardiomyopathy, familial dilated, 1|cardiomyopathy, familial dilated|dilated cardiomyopathy type 1B											OMIM:600884|ICD10:I42.0|DOID:0110443																		owl:Class
MONDO:0014105	biolink:NamedThing	hypogonadotropic hypogonadism 19 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.	mondoexuq1wtf	hypogonadotropic hypogonadism 19 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in DUSP6|DUSP6 hypogonadotropic hypogonadism|HH19											DOID:0090090|OMIM:615269|ICD10:E23.0|UMLS:C3808981																		owl:Class
MONDO:0011171	biolink:NamedThing	odonto-tricho-ungual-digito-palmar syndrome	Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.	mondoexuq1wtf	ODONTOTRICHOUNGUAL-digital-palmar syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|OTUDP syndrome|Otudp syndrome											OMIM:601957|SCTID:722063009|MESH:C566598|UMLS:C1865998|Orphanet:69082																		owl:Class
MONDO:0002957	biolink:NamedThing	sarcomatoid basal cell carcinoma		mondoexuq1wtf	skin sarcomatoid basal cell carcinoma											UMLS:C1519182|NCIT:C38111|DOID:4303																		owl:Class
MONDO:0019264	biolink:NamedThing	alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.	mondoexuq1wtf	NAGA deficiency type 3|Schindler disease type 3											ICD10:E77.1|Orphanet:79281|UMLS:C1836545																		owl:Class
MONDO:0024508	biolink:NamedThing	epilepsy, hot water, 1		mondoexuq1wtf	water immersion epilepsy|HWE1|epilepsy, hot water, 1|bathing epilepsy											OMIM:613339																		owl:Class
MONDO:0001440	biolink:NamedThing	neurotrophic keratoconjunctivitis		mondoexuq1wtf												SCTID:77080005|DOID:12125|UMLS:C0155084|ICD9:370.35|ICD10:H16.23|COHD:381291																		owl:Class
MONDO:0007548	biolink:NamedThing	transient bullous dermolysis of the newborn	Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.	mondoexuq1wtf	transient bullous dermolysis of the newborn|TBDN|dystrophic epidermolysis bullosa, neonatal|DEB-BDN|MONDON|epidermolysis bullosa dystrophica, dominant neonatal form|epidermolysis bullosa dystrophica, neonatal form|DEB, bullous dermolysis of the newborn											ICD10:Q81.2|UMLS:C1851573|GARD:0010010|MESH:C536979|Orphanet:79411|OMIM:131705|DOID:0111345														https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn				owl:Class
MONDO:0001687	biolink:NamedThing	diabetic cataract		mondoexuq1wtf	cataract - diabetic											DOID:13328|COHD:376979|UMLS:C0011876|SCTID:43959009|ICD9:366.41|ICD10:H28.0																		owl:Class
MONDO:0011524	biolink:NamedThing	Dianzani autoimmune lymphoproliferative disease	Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	mondoexuq1wtf	Dianzani autoimmune lymphoproliferative disease|Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|DALD|Dianzani autoimmune lymphoproliferative syndrome											UMLS:C2931071|MESH:C535950|GARD:0009797|SCTID:721093000|Orphanet:275523|OMIM:605233|ICD10:D47.9																		owl:Class
MONDO:0015555	biolink:NamedThing	plaque-form urticaria pigmentosa		mondoexuq1wtf												Orphanet:158769|ICD10:Q82.2																		owl:Class
MONDO:0011618	biolink:NamedThing	liver fibrocystic disease and polydactyly		mondoexuq1wtf	liver fibrocystic disease and polydactyly											UMLS:C1853827|MESH:C565272|OMIM:605944																		owl:Class
MONDO:0020518	biolink:NamedThing	Hashimoto-Pritzker syndrome	Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).	mondoexuq1wtf	congenital Langerhans cell histiocytosis|Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis											Orphanet:99872|MESH:C535843|SCTID:404160007|ICD10:C96.5|ICD9:277.89|UMLS:C1275336|GARD:0002604														https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome				owl:Class
MONDO:0002798	biolink:NamedThing	childhood central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.	mondoexuq1wtf	childhood central nervous system primitive neuroectodermal tumor|childhood CNS PNET|Central nervous system embryonal tumor, NOS|pediatric central primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|pediatric CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal neoplasm|pediatric CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of childhood|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system PNET|pediatric CNS PNET|childhood central primitive neuroectodermal tumor|pediatric central primitive neuroectodermal neoplasm											NCIT:C5961|DOID:3870|UMLS:C1332957																		owl:Class
MONDO:0017943	biolink:NamedThing	autoerythrocyte sensitization syndrome		mondoexuq1wtf	psychogenic purpura|Gardner-Diamond syndrome|GDS|Autoerythrocyte sensitization purpura|painful bruising syndrome|Autoerythrocyte sensitization											MESH:C535645|ICD10:D69.2|ICD9:287.2|Orphanet:324636|SCTID:275446004|UMLS:C0301928|GARD:0006481																		owl:Class
MONDO:0044345	biolink:NamedThing	Schistosoma mansoni infectious disease	An infection that is caused by Schistosoma mansoni.	mondoexuq1wtf	Schistosoma mansoni disease or disorder|Schistosoma mansoni infection|Schistosoma mansoni caused disease or disorder											SCTID:750009|NCIT:C35002|MESH:D012555																		owl:Class
MONDO:0009886	biolink:NamedThing	pleoconial myopathy with salt craving		mondoexuq1wtf	pleoconial myopathy with salt craving											UMLS:C1849773|GARD:0010318|MESH:C564883|OMIM:262900														https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving				owl:Class
MONDO:0013818	biolink:NamedThing	trichohepatoenteric syndrome 2	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.	mondoexuq1wtf	TRICHOHEPATOENTERIC syndrome 2|SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|Trichohepatoenteric syndrome type 2|Trichohepatoenteric syndrome 2|THES2											OMIM:614602|DOID:0111416|UMLS:C3281289																		owl:Class
MONDO:0008339	biolink:NamedThing	antecubital pterygium syndrome		mondoexuq1wtf	pterygium antecubital|antecubital pterygium|pterygium, antecubital											OMIM:178200|Orphanet:2987|GARD:0004570|UMLS:C1867439|MESH:C566738																		owl:Class
MONDO:0004264	biolink:NamedThing	acute gonococcal endometritis		mondoexuq1wtf	gonococcal endometritis|acute gonorrhea of uterus|gonococcal endometritis (acute)|uterus - acute gonorrhoea											UMLS:C0341829|ICD9:098.16|COHD:200040|SCTID:65295003|DOID:7527|UMLS:C0153196																		owl:Class
MONDO:0020429	biolink:NamedThing	cor triatriatum dexter		mondoexuq1wtf	cor triatriatum dexter (disease)|cor triatriatum dextrum|divided right atrium|cor triatriatum dexter		cor triatriatum dexter (disease)									SCTID:274947007|Orphanet:99098|ICD10:Q24.2|ICD9:746.89|HP:0011566|GARD:0012483																		owl:Class
MONDO:0012576	biolink:NamedThing	supranuclear palsy, progressive, 3		mondoexuq1wtf	PSNP3|supranuclear palsy, progressive, 3											MESH:C567050|UMLS:C1970476|OMIM:610898																		owl:Class
MONDO:0012959	biolink:NamedThing	psoriasis 11, susceptibility to		mondoexuq1wtf	psoriasis 11, susceptibility to|PSORS11											DOID:0111285|OMIM:612599																		owl:Class
MONDO:0013749	biolink:NamedThing	ventricular septal defect 3	Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.	mondoexuq1wtf	ventricular septal defect type 3|ventricular septal defect 3|ventricular septal defect (disease) caused by mutation in NKX2-5|NKX2-5 ventricular septal defect (disease)|VSD3											OMIM:614432|UMLS:C3280785																		owl:Class
MONDO:0004110	biolink:NamedThing	refractory hairy cell leukemia	Hairy cell leukemia that is resistant to treatment.	mondoexuq1wtf	hairy cell leukemia, refractory|refractory hairy cell leukemia					Editor note: TODO refractory DP						DOID:711|NCIT:C8030|UMLS:C0279780																		owl:Class
MONDO:0002677	biolink:NamedThing	conventional fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.	mondoexuq1wtf	classical fibrosarcoma|classic fibrosarcoma|conventional fibrosarcoma											NCIT:C9429|DOID:3517|UMLS:C1333156																		owl:Class
MONDO:0016222	biolink:NamedThing	spindle cell hemangioma	Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.	mondoexuq1wtf	SCh|spindle cell hemangioma|spindle -cell hemangioma|spindle cell hemangioendothelioma											ICDO:9136/1|DOID:496|UMLS:C1304508|ICD10:D18.0|NCIT:C4754|EFO:0002856|SCTID:403967000|Orphanet:210584|ICDO:9136/0																		owl:Class
MONDO:0012945	biolink:NamedThing	amyotrophic lateral sclerosis type 11	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.	mondoexuq1wtf	FIG4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 11|ALS11|amyotrophic lateral sclerosis type 11|amyotrophic lateral sclerosis caused by mutation in FIG4											UMLS:C2675491|GARD:0010496|MESH:C567244|DOID:0060202|OMIM:612577														https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11				owl:Class
MONDO:0017481	biolink:NamedThing	amelia of lower limb, bilateral		mondoexuq1wtf												ICD10:Q72.0|Orphanet:295059																		owl:Class
MONDO:0020358	biolink:NamedThing	coloboma of optic disc	Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).	mondoexuq1wtf	coloboma of optic papilla											COHD:437292|Orphanet:98947|GARD:0001438|ICD10:Q14.2																		owl:Class
MONDO:0015630	biolink:NamedThing	von Willebrand disease type 2M	Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.	mondoexuq1wtf	von Willebrand disease, type 2M					Editor note: 2 sctitds refer to same disease						NCIT:C131688|SCTID:359725000|Orphanet:166090|SCTID:359729006|ICD10:D68.0|UMLS:C1282974																		owl:Class
MONDO:0004035	biolink:NamedThing	glomangiomatosis	A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.	mondoexuq1wtf												NCIT:C27496|DOID:6906|UMLS:C1333824																		owl:Class
MONDO:0006166	biolink:NamedThing	columnar cell hyperplasia of the breast	A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.	mondoexuq1wtf	columnar cell hyperplasia of breast|CCH											UMLS:C1707446|EFO:1000199|NCIT:C54183																		owl:Class
MONDO:0018423	biolink:NamedThing	autosomal recessive spastic paraplegia type 71		mondoexuq1wtf	SPG71											ICD10:G11.4|UMLS:CN226130|Orphanet:401840																		owl:Class
MONDO:0027451	biolink:NamedThing	autosomal recessive cutis laxa type 2D	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.	mondoexuq1wtf	cutis laxa, autosomal recessive, type 2D|ARCL2D|autosomal recessive cutis laxa type IID|cutis laxa, autosomal recessive, type IID											OMIM:617403|ICD10:Q82.8|DOID:0070129																		owl:Class
MONDO:0016380	biolink:NamedThing	acquired hypertrichosis lanuginosa	Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.	mondoexuq1wtf	hypertrichosis lanuginosa, acquired											UMLS:CN201274|ICD10:L68.1|SCTID:25967007|GARD:0002864|Orphanet:2221														https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired				owl:Class
MONDO:0013210	biolink:NamedThing	autosomal recessive nonsyndromic deafness 25	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.	mondoexuq1wtf	autosomal recessive deafness 25|DFNB25|deafness, autosomal recessive type 25|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|GRXCR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 25|autosomal recessive nonsyndromic deafness type 25											DOID:0110483|OMIM:613285|ICD10:H90.3|UMLS:C1414017																		owl:Class
MONDO:0100185	biolink:NamedThing	immune reconstitution inflammatory syndrome	An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.	mondoexuq1wtf	IRIS|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|immune reconstitution syndrome|IRS|IRD|immune restoration disease							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0013885	biolink:NamedThing	Malan overgrowth syndrome	Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.	mondoexuq1wtf	SOTOS2|Malan syndrome|Sotos syndrome 2|Sotos syndrome type 2											ICD10:Q87.3|Orphanet:420179|UMLS:C3553660|OMIM:614753|SCTID:763795006																		owl:Class
MONDO:0002737	biolink:NamedThing	acute sanguinous otitis media	A acute transudative otitis media which involves bloody effusion.	mondoexuq1wtf												DOID:3696|COHD:378768|ICD9:381.03|SCTID:77478005|UMLS:C0395865																		owl:Class
MONDO:0008285	biolink:NamedThing	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal		mondoexuq1wtf	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal											UMLS:C1868000|MESH:C566774|OMIM:175510																		owl:Class
MONDO:0002599	biolink:NamedThing	teratocarcinoma	A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.	mondoexuq1wtf	mixed embryonal carcinoma and teratoma|teratocarcinoma (morphologic abnormality)|teratocarcinoma											MESH:D018243|ICDO:9081/3|DOID:3305|NCIT:C3756|UMLS:C0206664																		owl:Class
MONDO:0032763	biolink:NamedThing	immunodeficiency 62		mondoexuq1wtf	IMD62|IMMUNODEFICIENCY 62											OMIM:618459																		owl:Class
MONDO:0009625	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome 1		mondoexuq1wtf	MISSBC|microcephaly, seizures, spasticity, and brain calcifications|recessive microcephaly with spastic quadriplegia|microcephaly with spastic quadriplegia|DMJDS1											UMLS:C1855055|MESH:C537546|GARD:0008510|OMIM:251280														https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia				owl:Class
MONDO:0033211	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome		mondoexuq1wtf												OMIMPS:251280																		owl:Class
MONDO:0043187	biolink:NamedThing	pulmonary artery agenesis		mondoexuq1wtf	congenital absence of pulmonary artery|agenesis of pulmonary artery|pulmonary artery agenesis|pulmonary artery absent											SCTID:86252004|GARD:0004585																		owl:Class
MONDO:0017566	biolink:NamedThing	macrodactyly of toes, unilateral		mondoexuq1wtf	macrodactyly of foot, unilateral											Orphanet:295243|ICD10:Q74.2																		owl:Class
MONDO:0017475	biolink:NamedThing	macrodactyly of toes		mondoexuq1wtf	macrodactyly of the foot|macrodactyly of foot|Megalodactyly of the foot|megalodactylism of the foot											GARD:0006951|HP:0100747|ICD10:Q74.2|Orphanet:295047|MESH:C537719																		owl:Class
MONDO:0054561	biolink:NamedThing	anauxetic dysplasia 2		mondoexuq1wtf	anauxetic dysplasia 2|ANXD2											OMIM:617396																		owl:Class
MONDO:0001260	biolink:NamedThing	cercarial dermatitis	An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.	mondoexuq1wtf	swimmer's itch|lake Itch|Sea bather's eruption|cutaneous schistosomiasis|duck Itch											ICD9:120.3|ICD9:709.8|UMLS:C4282208|UMLS:C0546996|NCIT:C128349|DOID:11302|ICD10:B65.3|GARD:0009747|SCTID:238534006														https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis				owl:Class
MONDO:0001689	biolink:NamedThing	hypertrophy of tongue papillae		mondoexuq1wtf	tongue papillary hypertrophy											UMLS:C0392494|ICD10:K14.3|SCTID:6971002|DOID:13333|ICD9:529.3|COHD:432345																		owl:Class
MONDO:0020387	biolink:NamedThing	double outlet right ventricle with subpulmonary ventricular septal defect		mondoexuq1wtf	Double outlet right ventricle with transposition of the great arteries|Taussig-Bing syndrome|DORV-TGA|DORV with subpulmonary VSD											ICD10:Q20.1|UMLS:CN207267|SCTID:448794008|Orphanet:99045																		owl:Class
MONDO:0008147	biolink:NamedThing	osteogenesis imperfecta type 2	Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.	mondoexuq1wtf	Vrolik type of osteogenesis imperfecta|osteogenesis imperfecta congenita, perinatal lethal form|OI, type 2|osteogenesis imperfecta, type 2|osteogenesis imperfecta, type II|Perinatally lethal OI|osteogenesis imperfecta congenita perinatal lethal form|osteogenesis imperfecta congenita|perinatal lethal osteogenesis imperfecta congenita|OI type 2|OI2|lethal osteogenesis imperfecta|osteogenesis imperfecta type II											ICD10:Q78.0|UMLS:CN536250|SCTID:86470003|DOID:0110341|NCIT:C99001|GARD:0010142|OMIM:166210|MESH:C536042|Orphanet:216804																		owl:Class
MONDO:0014082	biolink:NamedThing	cryptosporidiosis-chronic cholangitis-liver disease syndrome		mondoexuq1wtf	IL21R immunodeficiency|immunodeficiency 56|IMD56											Orphanet:357329|ICD10:D81.8|UMLS:C3554687|OMIM:615207																		owl:Class
MONDO:0019534	biolink:NamedThing	mixed-type autoimmune hemolytic anemia	Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.	mondoexuq1wtf	mixed AIHA											Orphanet:90036|UMLS:C4305257|ICD10:D59.1|SCTID:718716008																		owl:Class
MONDO:0003397	biolink:NamedThing	gingival hypertrophy	Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.	mondoexuq1wtf	hypertrophy of gingivae											MESH:D005886|DOID:5338|UMLS:C0017567																		owl:Class
MONDO:0010956	biolink:NamedThing	enamel hypoplasia, cataracts, and aqueductal stenosis		mondoexuq1wtf	enamel hypoplasia, cataracts, and aqueductal stenosis|enamel hypoplasia, capsular cataracts, and ductal stenosis|Seow Najjar syndrome											MESH:C563430|OMIM:600907|UMLS:C1833163|GARD:0004801																		owl:Class
MONDO:0017737	biolink:NamedThing	intermediate severe Salla disease		mondoexuq1wtf	Intermediate Salla disease											UMLS:CN203640|Orphanet:309331|GARD:0010871|ICD10:E77.8														https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease				owl:Class
MONDO:0021418	biolink:NamedThing	polyp of ethmoidal sinus	A polyp that involves the ethmoid sinus.	mondoexuq1wtf	polyp of the ethmoid sinus|ethmoidal polyp|polyp of ethmoid sinus|ethmoid sinus polyp|polyp of the ethmoidal sinus|ethmoidal sinus polyp											UMLS:C0264248|ICD9:471.8|SCTID:23966000|NCIT:C3932																		owl:Class
MONDO:0019636	biolink:NamedThing	renal agenesis, unilateral	Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.	mondoexuq1wtf	unilateral renal agenesis|congenital single kidney|congenital solitary kidney											MedDRA:10053624|Orphanet:93100|UMLS:C0266294|NCIT:C101220|ICD10:Q60.0																		owl:Class
MONDO:0013167	biolink:NamedThing	parkinson disease 16		mondoexuq1wtf	PARK16|Parkinson disease 16											OMIM:613164|MESH:C567726|UMLS:C2751012																		owl:Class
MONDO:0003316	biolink:NamedThing	nonanaplastic kidney Wilms tumor	Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.	mondoexuq1wtf	Nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilm's tumor|Nonanaplastic renal Wilms' tumor|Nonanaplastic kidney Wilms tumor|nonanaplastic renal Wilms tumor											NCIT:C6951|UMLS:C1335062																		owl:Class
MONDO:0005366	biolink:NamedThing	chronic hepatitis B virus infection	Chronic form of hepatitis B infection.	mondoexuq1wtf	hepatitis B, chronic|hepatitis B infection, chronic|chronic Hepatitis B											EFO:0004239|UMLS:C0524909|MESH:D019694																		owl:Class
MONDO:0009765	biolink:NamedThing	ocular myopathy with curare sensitivity		mondoexuq1wtf	ocular myopathy with curare sensitivity											MESH:C564937|UMLS:C1850341|OMIM:257600																		owl:Class
MONDO:0016564	biolink:NamedThing	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.	mondoexuq1wtf	progressive supranuclear palsy-apraxia of speech syndrome|PSP-AOS|PSP-PNFA											UMLS:CN226962|Orphanet:240112|ICD10:G23.1																		owl:Class
MONDO:0013597	biolink:NamedThing	platelet-type bleeding disorder 14	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.	mondoexuq1wtf	thromboxane synthetase deficiency|TBXAS1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|bleeding disorder, platelet-type, 14|BDPLT14|thromboxane synthase deficiency											MESH:C562866|SCTID:234477002|DOID:0111047|UMLS:C0398635|OMIM:614158																		owl:Class
MONDO:0004942	biolink:NamedThing	orbit lymphoma	A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.	mondoexuq1wtf	lymphoma of the orbit|lymphoma of orbit|orbital lymphoma|primary orbit lymphoma|primary orbital lymphoma											DOID:9986|MESH:C537131|UMLS:C0271333|SCTID:13048006|GARD:0009719|NCIT:C6244																		owl:Class
MONDO:0007572	biolink:NamedThing	primary familial polycythemia due to EPO receptor mutation	Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.	mondoexuq1wtf	EPOR familial polycythemia|familial erythrocytosis|erythrocytosis, autosomal dominant benign|erythrocytosis, familial, 1|autosomal dominant benign erythrocytosis|erythrocytosis autosomal dominant benign|erythrocytosis familial, 1|primary familial and congenital polycythemia|familial erythrocytosis, 1|erythrocytosis, familial, type 1|ECYT1|familial erythrocytosis 1|primary familial polycythemia|PFCP|primary congenital erythrocytosis|polycythemia, primary familial and congenital|congenital erythrocytosis due to erythropoietin receptor mutation|familial polycythemia caused by mutation in EPOR|congenital polycythemia due to erythropoietin receptor mutation|familial erythrocytosis type 1					Editor note: check relation to familial polycythemia						GARD:0009843|OMIM:133100|Orphanet:90042|DOID:0060652|ICD9:289.6|ICD10:D75.0|SCTID:17342003														https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1				owl:Class
MONDO:0004829	biolink:NamedThing	Krukenberg carcinoma	Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.	mondoexuq1wtf	Krukenberg neoplasm|Krukenberg tumor|Krukenberg’s tumor										MONDO:0006261	EFO:1000316|NCIT:C3153|DOID:9597|GARD:0008627|SCTID:359987004|UMLS:C0022790|MESH:D007725																		owl:Class
MONDO:0014544	biolink:NamedThing	osteogenesis imperfecta type 16	An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.	mondoexuq1wtf	osteogenesis imperfecta, type 16|osteogenesis imperfecta type XVI|OI, type 16|OI16|chromosome 11p11.2 deletion syndrome 91.3-KB|osteogenesis imperfecta, type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb											UMLS:C4015610|DOID:0110345|ICD10:Q78.0|OMIM:616229																		owl:Class
MONDO:0007579	biolink:NamedThing	esterase C		mondoexuq1wtf	esterase type C|esterase C|ESC					Editor note: consider obsoleting						OMIM:133270																		owl:Class
MONDO:0021829	biolink:NamedThing	agnathia-microstomia-synotia		mondoexuq1wtf	Plurimalformative syndrome|agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment											GARD:0010125|UMLS:C2931718|MESH:C538059														https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia				owl:Class
MONDO:0043892	biolink:NamedThing	prosthesis-related infectious disease	A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.	mondoexuq1wtf	prosthesis related infections|device related infection|prosthesis-related infection|infections, prosthesis-related											NCIT:C79705|MESH:D016459|EFO:1002021																		owl:Class
MONDO:0005902	biolink:NamedThing	peanut allergic reaction	Allergic reaction to peanuts that is triggered by the immune system.	mondoexuq1wtf	allergy to peanuts|nut allergic reaction of pigmented ciliary epithelial cell|pigmented ciliary epithelial cell nut allergic reaction|peanut allergy|peanut allergic reaction											DOID:4378|ICD9:995.3|SCTID:91935009|MESH:D021183|COHD:4240902|EFO:0007425|UMLS:C0559470																		owl:Class
MONDO:0019622	biolink:NamedThing	non-specific interstitial pneumonia	Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.	mondoexuq1wtf	NSIP|non-specific idiopathic interstitial pneumonia|nonspecific interstitial pneumonia											DOID:2801|ICD9:516.8|UMLS:C1290344|ICD10:J84.8|NCIT:C35717|SCTID:129452008|Orphanet:91364																		owl:Class
MONDO:0019682	biolink:NamedThing	congenital sialidosis type 2		mondoexuq1wtf												ICD10:E77.1|Orphanet:93400																		owl:Class
MONDO:0013607	biolink:NamedThing	monocytopenia with susceptibility to infections		mondoexuq1wtf	immunodeficiency 21|IMD21|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|DCML|monocyte - B - natural killer - dendritic cell deficiency|monocytopenia and mycobacterial infection syndrome|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|immunodeficiency type 21|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|monocyte-B-natural killer-dendritic cell deficiency syndrome|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|MonoMAC|Dendritic cell, monocyte, B and NK lymphoid deficiency											OMIM:614172|GARD:0010934|UMLS:C3280030|ICD10:D72.8|Orphanet:228423																		owl:Class
MONDO:0042982	biolink:NamedThing	GATA2 deficiency with susceptibility to MDS/AML	A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).	mondoexuq1wtf	GATA2 deficiency|GATA2 deficiency/MonoMac syndrome					The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity						GARD:0013373|NCIT:C126349																		owl:Class
MONDO:0015408	biolink:NamedThing	diffuse lymphatic malformation		mondoexuq1wtf	diffuse lymphangiomatosis|disseminated lymphangiomatosis|Gla|generalized lymphatic anomaly|disseminated lymphangioma|disseminated lymphatic malformation|diffuse lymphangioma											UMLS:C0343090|Orphanet:141209|ICD10:I89.8|SCTID:703298001																		owl:Class
MONDO:0032641	biolink:NamedThing	mirror movements 4		mondoexuq1wtf	MRMV4|MIRROR MOVEMENTS 4											OMIM:618264																		owl:Class
MONDO:0004700	biolink:NamedThing	parotid gland cancer	A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.	mondoexuq1wtf	parotid cancer|malignant tumor of the parotid|malignant parotid gland tumor|cancer of parotid|malignant parotid neoplasm|malignant parotid tumor|malignant tumor of the parotid gland|malignant neoplasm of the parotid gland|parotid gland cancer|cancer of the parotid gland|cancer of parotid gland|malignant tumor of parotid|malignant neoplasm of the parotid|malignant parotid gland neoplasm|cancer of the parotid|malignant neoplasm of parotid gland|malignant tumor of parotid gland|malignant neoplasm of parotid											DOID:9036|NCIT:C3525|ICD10:C07|ICD9:142.0|UMLS:C0747273|SCTID:363379000|MESH:D010307																		owl:Class
MONDO:0060624	biolink:NamedThing	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		mondoexuq1wtf	NDAGSCW|neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter											OMIM:617807|UMLS:C4540498																		owl:Class
MONDO:0002414	biolink:NamedThing	gastric hemangioma	A hemangioma arising from the stomach.	mondoexuq1wtf	angioma of the stomach|gastric angioma|hemangioma of the stomach|angioma of stomach|gastric hemangioma|stomach hemangioma|hemangioma of stomach											NCIT:C5481|DOID:275|UMLS:C1333770																		owl:Class
MONDO:0013093	biolink:NamedThing	glioma susceptibility 3	Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.	mondoexuq1wtf	glioma susceptibility type 3|GLM3|malignant glioma caused by mutation in BRCA2|glioma susceptibility 3|BRCA2 malignant glioma											OMIM:613029																		owl:Class
MONDO:0018498	biolink:NamedThing	double outlet right ventricle with subaortic or doubly committed ventricular septal defect		mondoexuq1wtf	DORV with subaortic or doubly committed VSD											Orphanet:423693|ICD10:Q20.1																		owl:Class
MONDO:0008971	biolink:NamedThing	chondrodysplasia calcificans Metaphysealis		mondoexuq1wtf	chondrodysplasia calcificans Metaphysealis											GARD:0010613|OMIM:215050|UMLS:C1859147|MESH:C565855														https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis				owl:Class
MONDO:0006201	biolink:NamedThing	ethmoid sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that affects the ethmoid sinus.	mondoexuq1wtf	adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus											NCIT:C6238|EFO:1000246|UMLS:C1333473|DOID:2764																		owl:Class
MONDO:0001393	biolink:NamedThing	peripheral focal chorioretinitis		mondoexuq1wtf												ICD9:363.04|DOID:11864|UMLS:C0339394|SCTID:56787009																		owl:Class
MONDO:0015044	biolink:NamedThing	mu-heavy chain disease	Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).	mondoexuq1wtf	mu chain disease|mu-HCD|mu heavy chain disease											SCTID:61493004|NCIT:C3892|ICD10:C88.2|Orphanet:100024|DOID:0060128|ICD9:273.2																		owl:Class
MONDO:0005705	biolink:NamedThing	clonorchiasis	Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)	mondoexuq1wtf	Oriental liver fluke disease											MESH:D003003|UMLS:C0009021|SCTID:11938002|DOID:13767|COHD:194280|ICD9:121.1|ICD10:B66.1|EFO:0007210																		owl:Class
MONDO:0019396	biolink:NamedThing	collagen type III glomerulopathy	Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.	mondoexuq1wtf	Collagenofibrotic glomerulopathy											Orphanet:84087|UMLS:CN206095|UMLS:C3872695|ICD10:N07.6|ICD9:583.89|SCTID:708127008																		owl:Class
MONDO:0000970	biolink:NamedThing	breast lipoma	A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.	mondoexuq1wtf	breast lipoma|lipoma of the breast|lipoma of breast											NCIT:C4647|DOID:10199|ICD9:214.1|UMLS:C0349565|SCTID:276891009																		owl:Class
MONDO:0007903	biolink:NamedThing	Li-Fraumeni syndrome 1	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene.	mondoexuq1wtf	Sbla syndrome|Li-Fraumeni syndrome 3|Li-Fraumeni-like syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|LFS|Li-Fraumeni syndrome type 1|TP53 Li-Fraumeni syndrome|Li-Fraumeni syndrome caused by mutation in TP53|sarcoma family syndrome of 51 and Fraumeni|LFS3|LFS1											OMIM:151623|OMIM:609266|MESH:C563754|UMLS:C1836481|UMLS:C1835398|DOID:0111503																		owl:Class
MONDO:0017887	biolink:NamedThing	renal cell carcinoma associated with neuroblastoma	Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.	mondoexuq1wtf	renal cell carcinoma after neuroblastoma|renal cell cancer associated with neuroblastoma|renal cell carcinoma associated with neuroblastoma											NCIT:C100051|ICD10:C64|UMLS:C3272295|Orphanet:319314																		owl:Class
MONDO:0015543	biolink:NamedThing	hemophagocytic syndrome associated with an infection		mondoexuq1wtf	VAHS|IAHS|Virus-associated hemophagocytic syndrome|Virus-associated hemophagocytis syndrome											UMLS:CN199701|Orphanet:158048														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
MONDO:0014487	biolink:NamedThing	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.	mondoexuq1wtf	SIFD|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay|SIFD syndrome											UMLS:C4015172|Orphanet:369861|ICD10:D64.0|OMIM:616084|DOID:0080209																		owl:Class
MONDO:0100380	biolink:NamedThing	acute myeloid leukemia, t(4;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)	mondoexuq1wtf	AML, t(4;11)(q21;q23)|AML, t(4;11)(q21;q23.3)																													owl:Class
MONDO:0025163	biolink:NamedThing	white heifer disease	A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.	mondoexuq1wtf	disease, White heifer											UMLS:C0043152|MESH:D050072|SCTID:82642007																		owl:Class
MONDO:0008801	biolink:NamedThing	anosmia for isobutyric acid		mondoexuq1wtf	anosmia for isobutyric acid											OMIM:207000																		owl:Class
MONDO:0003622	biolink:NamedThing	pancreatic vasoactive intestinal peptide producing tumor	A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.	mondoexuq1wtf	pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing NET|pancreatic VIP producing tumor|pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing neoplasm											DOID:5741|UMLS:C2033037|NCIT:C27454																		owl:Class
MONDO:0015100	biolink:NamedThing	aregenerative anemia		mondoexuq1wtf												MedDRA:10054329|ICD10:D46.7|UMLS:C0553669|Orphanet:101096|SCTID:89112009																		owl:Class
MONDO:0032590	biolink:NamedThing	ovarian dysgenesis 8		mondoexuq1wtf	OVARIAN DYSGENESIS 8|ODG8											OMIM:618187|DOID:0080500																		owl:Class
MONDO:0016040	biolink:NamedThing	harlequin syndrome	Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.	mondoexuq1wtf	progressive isolated segmental anhidrosis|unilateral loss of facial flushing and sweating with contralateral anhidrosis|sudden onset of unilateral flushing and sweating											Orphanet:199282|SCTID:14070001000004105|GARD:0008610|ICD10:G90.8|ICD9:705.89|UMLS:C2029348|MESH:C535634														https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome				owl:Class
MONDO:0012875	biolink:NamedThing	inflammatory bowel disease 21	An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.	mondoexuq1wtf	inflammatory bowel disease 21|IBD21|inflammatory bowel disease type 21											UMLS:C2676507|OMIM:612354|DOID:0110906|MESH:C567338																		owl:Class
MONDO:0001034	biolink:NamedThing	marginal corneal ulcer		mondoexuq1wtf												UMLS:C0155067|SCTID:47398006|COHD:374931|DOID:10441|ICD10:H16.04|ICD9:370.01																		owl:Class
MONDO:0016614	biolink:NamedThing	autosomal recessive ataxia due to PEX10 deficiency		mondoexuq1wtf	mild peroxismal disorder due to PEX10 deficiency					Editor note: TODO add gene						UMLS:CN201819|Orphanet:247815|ICD10:G11.8																		owl:Class
MONDO:0033312	biolink:NamedThing	schizophrenia 19		mondoexuq1wtf	schizophrenia 19|schizophrenia 19 with or without an affective disorder|SCZD19											OMIM:617629|UMLS:CN404275|DOID:0080281																		owl:Class
MONDO:0054593	biolink:NamedThing	microcephaly 18, primary, autosomal dominant		mondoexuq1wtf	primary autosomal dominant microcephaly 18|microcephaly 18, primary, autosomal dominant|MCPH18											OMIM:617520|UMLS:C4479608|DOID:0070295																		owl:Class
MONDO:0016423	biolink:NamedThing	autoimmune polyendocrinopathy type 4		mondoexuq1wtf	autoimmune polyglandular syndrome type 4|APS4|APS type 4|autoimmune polyendocrine syndrome type 4											Orphanet:227990|UMLS:C3266026|UMLS:CN201378|ICD10:E31.0|SCTID:449730005|ICD9:258.1																		owl:Class
MONDO:0018485	biolink:NamedThing	glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	mondoexuq1wtf	glycogenosis type II, late-onset|glycogen storage disease type II, late onset|Alpha-1,4-glucosidase acid deficiency, late-onset|GSD type 2, late-onset|glycogen storage disease type 2, late onset|GSD due to acid maltase deficiency, late onset|glycogenosis type 2, late onset|glycogen storage disease type 2, late-onset|GSD due to acid maltase deficiency, late-onset|GSD type II, late-onset|glycogenosis type 2, late-onset|glycogenosis type II, late onset|glycogen storage disease type II, late-onset|Alpha-1,4-glucosidase acid deficiency, late onset|GSD type 2, late onset|Pompe disease, late-onset|GSD type II, late onset|Pompe disease, late onset											SCTID:722343009|UMLS:C0342753|Orphanet:420429|UMLS:C3888925|ICD10:E74.0																		owl:Class
MONDO:0007560	biolink:NamedThing	reading seizures		mondoexuq1wtf	epilepsy, reading											ICD10:G40.8|UMLS:C0278193|Orphanet:166433|OMIM:132300																		owl:Class
MONDO:0008031	biolink:NamedThing	facioscapulohumeral muscular dystrophy 2	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.	mondoexuq1wtf	Fshd2, digenic|facioscapulohumeral muscular dystrophy type 2|muscular dystrophy, facioscapulohumeral, type 2|facioscapulohumeral muscular dystrophy 2, digenic|facioscapulohumeral muscular dystrophy 2|muscular dystrophy, facioscapulohumeral, type 1B|facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1|SMCHD1 facioscapulohumeral muscular dystrophy|FSHD2											OMIM:158901|MESH:C563557|UMLS:C1834671|NCIT:C172705|DOID:0111193																		owl:Class
MONDO:0032896	biolink:NamedThing	spermatogenic failure 42		mondoexuq1wtf	SPERMATOGENIC FAILURE 42|SPGF42											OMIM:618745																		owl:Class
MONDO:0043975	biolink:NamedThing	autonomic dysreflexia	A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)	mondoexuq1wtf	hyperreflexia, autonomic|spinal autonomic Dysreflexias|Dysreflexias, autonomic|Dysreflexia, spinal autonomic|dysreflexia|Dysreflexias, spinal autonomic|Dysreflexia, autonomic|autonomic dysreflexia|autonomic hyperreflexia|hyperreflexias, autonomic|autonomic Hyperreflexias|autonomic Dysreflexias|spinal autonomic Dysreflexia|autonomic Dysreflexias, spinal|autonomic Dysreflexia, spinal											MESH:D020211|SCTID:129618003|EFO:1001762|UMLS:C0238015																		owl:Class
MONDO:0015446	biolink:NamedThing	atypical coarctation of aorta	Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).	mondoexuq1wtf	Midaortic syndrome|mid-aortic syndrome|middle aortic syndrome|coarctation of the abdominal aorta|mid-aortic dysplastic syndrome											Orphanet:1456|SCTID:471268000|ICD10:Q25.1|UMLS:C3805239|UMLS:C3496579																		owl:Class
MONDO:0020858	biolink:NamedThing	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5		mondoexuq1wtf	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5|Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type|MC5DN5											OMIM:618120																		owl:Class
MONDO:0002963	biolink:NamedThing	acantholytic acanthoma	A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.	mondoexuq1wtf	acantholytic acanthoma											UMLS:C1301270|DOID:4324|NCIT:C27517																		owl:Class
MONDO:0008104	biolink:NamedThing	Noonan syndrome 1	Noonan syndrome caused by mutations in the PTPN11 gene.	mondoexuq1wtf	Noonan syndrome type 1|Turner phenotype with normal karyotype|Noonan syndrome 1|female pseudo-Turner syndrome|Noonan syndrome|pterygium colli syndrome|NS1|Male Turner syndrome											OMIM:163950|GARD:0007223|DOID:0060578|NCIT:C75459																		owl:Class
MONDO:0014742	biolink:NamedThing	Parkinson disease 22, autosomal dominant	Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.	mondoexuq1wtf	CHCHD2 Parkinson disease|Parkinson disease 22, autosomal dominant|Parkinson disease 22, autosomal dominant; PARK22|PARK22|Parkinson disease caused by mutation in CHCHD2											OMIM:616710|DOID:0080504|UMLS:C4225238																		owl:Class
MONDO:0013491	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability		mondoexuq1wtf	MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability											UMLS:C3151356|OMIM:613926|DOID:0080317																		owl:Class
MONDO:0020851	biolink:NamedThing	spermatogenic failure 30		mondoexuq1wtf	SPGF30|spermatogenic failure 30											OMIM:618110																		owl:Class
MONDO:0003141	biolink:NamedThing	cerebellopontine angle embryonal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.	mondoexuq1wtf	primitive neuroectodermal tumor of the C-P angle|cerebellopontine angle PNET|C-P angle primitive neuroectodermal neoplasm|cerebellopontine angle primitive neuroectodermal|primitive neuroectodermal neoplasm of the C-P angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal tumor of the cerebellopontine angle|cerebellar Pontine angle PNET|primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal neoplasm of C-P angle|cerebellar Pontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal tumor|cerebellar Pontine angle primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellar Pontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|cerebellopontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of the cerebellar Pontine angle|C-P angle PNET|C-P angle primitive neuroectodermal tumor|primitive neuroectodermal tumor of cerebellopontine angle											DOID:4787|NCIT:C5436|UMLS:C1332904																		owl:Class
MONDO:0007364	biolink:NamedThing	arthrogryposis, distal, type 2E		mondoexuq1wtf	arthrogryposis, distal, type 2E|contractures of fingers and jaw											OMIM:121070|MESH:C535384|UMLS:C1852597																		owl:Class
MONDO:0012898	biolink:NamedThing	narcolepsy 4, susceptibility to		mondoexuq1wtf	narcolepsy 4, susceptibility to|NRCLP4											UMLS:C2676275|OMIM:612417																		owl:Class
MONDO:0003025	biolink:NamedThing	conventional angiosarcoma	An angiosarcoma characterized by the presence of malignant spindle endothelial cells.	mondoexuq1wtf	conventional angiosarcoma											DOID:4512|NCIT:C9426|UMLS:C1333155																		owl:Class
MONDO:0043254	biolink:NamedThing	papular urticaria		mondoexuq1wtf	prurigo simplex|papular urticaria|urticaria papulosa of hebra|lichen urticatus|strophulus|bullous papular urticaria - type											GARD:0007322|MESH:C537169|SCTID:55608001																		owl:Class
MONDO:0016663	biolink:NamedThing	overlapping connective tissue disease		mondoexuq1wtf												Orphanet:251312|MedDRA:10027754|UMLS:CN201903|ICD10:M35.1																		owl:Class
MONDO:0033638	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 8		mondoexuq1wtf	MC4DN8											OMIM:619052																		owl:Class
MONDO:0009363	biolink:NamedThing	hydrocephaly-tall stature-joint laxity syndrome	Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	mondoexuq1wtf	hydrocephalus, tall stature, joint laxity and kyphoscoliosis|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephaly - tall stature - joint laxity|Daish-Hardman-Lamont syndrome|Daish Hardman Lamont syndrome											GARD:0001666|OMIM:236660|Orphanet:2181|SCTID:732926009|UMLS:C1856051|MESH:C535770|ICD10:Q87.8																		owl:Class
MONDO:0007681	biolink:NamedThing	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.	mondoexuq1wtf	familial MNG|euthyroid goiter|multinodular goiter, adolescent|MNG1|FMNG|simple goiter|goiter, nontoxic, with Intrathyroidal calcification|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors											Orphanet:276399|MESH:C562732|ICD10:E04.2|OMIM:138800|ICD9:240.0|UMLS:CN202615|SCTID:267369002|COHD:141825																		owl:Class
MONDO:0013639	biolink:NamedThing	narcolepsy 6, susceptibility to		mondoexuq1wtf	narcolepsy 6, susceptibility to|NRCLP6											OMIM:614223																		owl:Class
MONDO:0018680	biolink:NamedThing	cutaneous pseudolymphoma	A pseudolymphoma of the skin.	mondoexuq1wtf	lymphadenosis Benigna cutis|lymphocytoma cutis|pseudolymphoma of Spiegler											SCTID:128862000|ICD10:L98.6|Orphanet:451607|UMLS:C0311220|NCIT:C62776																		owl:Class
MONDO:0014768	biolink:NamedThing	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.	mondoexuq1wtf	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|HTRA1 CADASIL|CADASIL type 2|CADASIL caused by mutation in HTRA1|CADASIL 2|CADASIL2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2											DOID:0111036|ICD10:F01.1|UMLS:C4225211|OMIM:616779																		owl:Class
MONDO:0019330	biolink:NamedThing	pili gemini	Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.	mondoexuq1wtf	pili multigemini											ICD9:704.8|Orphanet:79492|SCTID:42829009|ICD10:L67.8|MESH:C537188																		owl:Class
MONDO:0017074	biolink:NamedThing	cervicothoracic spina bifida cystica		mondoexuq1wtf												Orphanet:268766																		owl:Class
MONDO:0009226	biolink:NamedThing	fibrochondrogenesis 1	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.	mondoexuq1wtf	fibrochondrogenesis 1|FBCG1|fibrochondrogenesis caused by mutation in COL11A1|fibrochondrogenesis type 1|COL11A1 fibrochondrogenesis											OMIM:228520|UMLS:C3278138																		owl:Class
MONDO:0013323	biolink:NamedThing	cranioectodermal dysplasia 2	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.	mondoexuq1wtf	WDR35 cranioectodermal dysplasia|CED2|CRANIOECTODERMAL dysplasia 2|cranioectodermal dysplasia caused by mutation in WDR35|cranioectodermal dysplasia 2|Cranioectodermal dysplasia type 2											UMLS:C3150874|OMIM:613610																		owl:Class
MONDO:0019437	biolink:NamedThing	enthesitis-related juvenile idiopathic arthritis	Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.	mondoexuq1wtf	juvenile enthesitis-related arthritis|enthesitis-related arthritis|enthesitis-related JIA|enthesitis related arthritis, juvenile|era|juvenile spondylarthropathy											NCIT:C119024|SCTID:410801005|GARD:0010969|ICD10:M08.8|Orphanet:85438														https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis				owl:Class
MONDO:0001732	biolink:NamedThing	trigonitis	Inflammation of the trigone of the urinary bladder.	mondoexuq1wtf	inflammation of trigone of urinary bladder|trigone of urinary bladder inflammation											DOID:13507|SCTID:74445007|COHD:441615|NCIT:C123175|ICD9:595.3|UMLS:C1261278|ICD10:N30.3																		owl:Class
MONDO:0008847	biolink:NamedThing	atrichia with papular lesions	Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.	mondoexuq1wtf	APL|atrichia with papular lesions|papular atrichia											DOID:0060689|Orphanet:86819|OMIM:209500|SCTID:715963002|MESH:C565924|UMLS:C1859592|ICD10:L65.8																		owl:Class
MONDO:0013902	biolink:NamedThing	aortic valve disease 2	Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.	mondoexuq1wtf	aortic valve disease type 2|SMAD6 aortic valve disease|AOVD2|aortic valve disease 2|aortic valve stenosis|bicuspid aortic valve|aortic valve disease caused by mutation in SMAD6											DOID:0080334|UMLS:C3542024|OMIM:614823																		owl:Class
MONDO:0054832	biolink:NamedThing	corneal dystrophy, posterior polymorphous, 4		mondoexuq1wtf	corneal dystrophy, POSTERIOR polymorphous, 4|PPCD4											OMIM:618031|UMLS:CN248531																		owl:Class
MONDO:0044322	biolink:NamedThing	intellectual developmental disorder with neuropsychiatric features	Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).	mondoexuq1wtf	intellectual developmental disorder with neuropsychiatric features|IDDNPF											UMLS:C4479636|OMIM:617532																		owl:Class
MONDO:0008826	biolink:NamedThing	arthrogryposis-hyperkeratosis syndrome, lethal form	Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	mondoexuq1wtf	arthrogryposis with hyperkeratosis|Johnston Aarons Schelley syndrome|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns|Johnston-Aarons-Schelley syndrome											GARD:0003053|MESH:C535883|OMIM:208158|UMLS:C1859710|Orphanet:1485|SCTID:726620005																		owl:Class
MONDO:0002006	biolink:NamedThing	serous labyrinthitis	A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.	mondoexuq1wtf	acute serous labyrinthitis											UMLS:C0155504|ICD9:386.31|SCTID:41674001|DOID:1467																		owl:Class
MONDO:0008845	biolink:NamedThing	atonic-astatic syndrome of Foerster		mondoexuq1wtf	atonic-astatic syndrome of Foerster											OMIM:209100|MESH:C565926|UMLS:C1859594																		owl:Class
MONDO:0013152	biolink:NamedThing	systemic lupus erythematosus, susceptibility to, 14		mondoexuq1wtf	SLEB14|systemic lupus erythematosus, susceptibility to, 14											OMIM:613145																		owl:Class
MONDO:0010463	biolink:NamedThing	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.	mondoexuq1wtf	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia|X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome											UMLS:C3275476|OMIM:300863|ICD10:Q87.8|SCTID:719837003|Orphanet:163966																		owl:Class
MONDO:0017202	biolink:NamedThing	acute endophthalmitis	Acute form of endophthalmitis.	mondoexuq1wtf	endophthalmitis, acute											ICD9:360.01|SCTID:1493002|COHD:433765|Orphanet:279888|UMLS:C0154773|ICD10:H44.0|MedDRA:10000730|ICD10:H44.1|DOID:11752																		owl:Class
MONDO:0017185	biolink:NamedThing	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).	mondoexuq1wtf	autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|dominant KATP hyperinsulinism due to Kir6.2 deficiency											UMLS:CN202626|Orphanet:276580|ICD10:E16.1|UMLS:C4274081|SCTID:717045004																		owl:Class
MONDO:0000466	biolink:NamedThing	first-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.	mondoexuq1wtf	atrioventricular block first degree|atrioventricular block, first degree|first degree AV block|AV block first degree|first degree atrioventricular block											NCIT:C62015|COHD:314379|UMLS:C0085614|DOID:0050821|ICD9:426.11|SCTID:270492004																		owl:Class
MONDO:0005674	biolink:NamedThing	bone giant cell tumor	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.	mondoexuq1wtf	giant cell tumor of bone NOS (morphologic abnormality)|giant cell tumor of bone (morphologic abnormality)|giant cell tumor of bone|giant cell neoplasm of bone|giant cell tumor, benign|giant cell myeloma|Osteoclastoma, benign|giant cell tumor of the bone|GCT of bone|benign bone giant cell tumor|osteoclastoma										MONDO:0018219	NCIT:C121932|Orphanet:363976|HP:0011847|MESH:D018212|ICD10:D48.0|ONCOTREE:GCTB|SCTID:697970009|GARD:0013046|UMLS:C0206638|DOID:4305|EFO:0007176																		owl:Class
MONDO:0017659	biolink:NamedThing	sporadic hyperekplexia		mondoexuq1wtf												Orphanet:306776|ICD10:G25.8																		owl:Class
MONDO:0002940	biolink:NamedThing	anal margin basal cell carcinoma	A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.	mondoexuq1wtf	basal cell carcinoma of the perianal skin|basal cell carcinoma of anal margin|skin basal cell carcinoma of perianal skin|anal margin basal cell carcinoma|perianal skin basal cell carcinoma|basal cell carcinoma of perianal skin|perianal skin skin basal cell carcinoma|basal cell carcinoma of the anal margin											DOID:4283|ICD10:C44.510|NCIT:C7473|UMLS:C1332269																		owl:Class
MONDO:0010595	biolink:NamedThing	Sertoli cell-only syndrome	Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.	mondoexuq1wtf	DEL CASTILLO syndrome|Sertoli cell-only syndrome|Germinal cell aplasia|Del Castillo syndrome					Editor note: consider moving OMIMPS from azoospermia to here						DOID:0050457|ICD9:752.89|EFO:1001422|SCTID:73465006|MESH:D054331|GARD:0008406														https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome				owl:Class
MONDO:0032613	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 8		mondoexuq1wtf	MC1DN8|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8											OMIM:618230																		owl:Class
MONDO:0016617	biolink:NamedThing	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies		mondoexuq1wtf	polyarthritis without rheumatoid factor with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies|rheumatoid factor-negative JIA with anti-nuclear antibodies											Orphanet:247854|ICD10:M08.3																		owl:Class
MONDO:0001438	biolink:NamedThing	postinflammatory pulmonary fibrosis		mondoexuq1wtf	post-inflammatory pulmonary fibrosis|postinflammatory pulmonary fibrosis											DOID:12123|COHD:253797|UMLS:C0175999|SCTID:266368002|ICD10:J84.10|ICD9:515																		owl:Class
MONDO:0021650	biolink:NamedThing	uterine corpus neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	mondoexuq1wtf	body of uterus NET|body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|body of uterus neuroendocrine tumor|uterine corpus neuroendocrine tumor|body of uterus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus|uterine corpus neuroendocrine neoplasm											UMLS:C4288048|NCIT:C126771																		owl:Class
MONDO:0007545	biolink:NamedThing	Eosinophilopenia		mondoexuq1wtf	eosinophil aplasia|Eosinophilopenia											UMLS:C1851586|OMIM:131430																		owl:Class
MONDO:0014403	biolink:NamedThing	short stature due to GHSR deficiency	Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.	mondoexuq1wtf	GHDP|ghrelin receptor deficiency|short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial											OMIM:615925|Orphanet:314811|ICD10:E34.3|SCTID:766817004																		owl:Class
MONDO:0000265	biolink:NamedThing	aspiration pneumonia	A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.	mondoexuq1wtf	inhalation pneumonia|aspiration Pneumonias|syndromes, acid aspiration|Mendelsons syndrome|syndrome, acid aspiration|syndrome, Mendelson's|acid aspiration syndrome|gastric acid aspiration syndrome|Mendelson syndrome|aspiration pneumonia|acid aspiration syndromes|aspiration pneumonia (disease)|Pneumonias, aspiration|Mendelson's syndrome|syndrome, Mendelson		aspiration pneumonia (disease)									ICD10:J69.0|MESH:D011015|SCTID:422588002|DOID:0050152|UMLS:C0032290|HP:0011951|UMLS:C0085740																		owl:Class
MONDO:0004854	biolink:NamedThing	ophthalmia neonatorum	Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.	mondoexuq1wtf	gonococcal ophthalmia neonatorum|neonatal conjunctivitis|gonococcal conjunctivitis (neonatorum)											ICD9:771.6|DOID:9699|SCTID:34298002|NCIT:C116815|ICD10:P39.1|UMLS:C0029076|MESH:D009878|COHD:372842																		owl:Class
MONDO:0011056	biolink:NamedThing	Wilms tumor 4		mondoexuq1wtf	WT4|Wilms tumor type 4|Wilms tumor 4|familial Wilms tumor 1											UMLS:C1832426|OMIM:601363|MESH:C563336																		owl:Class
MONDO:0002410	biolink:NamedThing	pyeloureteritis cystica		mondoexuq1wtf												UMLS:C0156254|COHD:199869|ICD9:590.3|DOID:2743|ICD10:N28.85|SCTID:37779008																		owl:Class
MONDO:0013627	biolink:NamedThing	3M syndrome 3	Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.	mondoexuq1wtf	3M syndrome 3|three M syndrome type 3|three M syndrome 3|CCDC8 3-M syndrome|3M3|3-M syndrome caused by mutation in CCDC8											UMLS:C3280146|OMIM:614205																		owl:Class
MONDO:0017249	biolink:NamedThing	congenital pulmonary airway malformation type 1		mondoexuq1wtf	CPAM type 1|congenital cystic adenomatous malformation of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1|CCAM type 1|congenital cystic disease of the lung type 1											ICD10:Q33.0|Orphanet:280832																		owl:Class
MONDO:0020600	biolink:NamedThing	acute pharyngitis	An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.	mondoexuq1wtf	pharyngitis, acute|acute pharyngitis											SCTID:363746003|NCIT:C34355																		owl:Class
MONDO:0011646	biolink:NamedThing	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy		mondoexuq1wtf	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy											UMLS:C1853556|OMIM:606183|MESH:C565252																		owl:Class
MONDO:0006086	biolink:NamedThing	angiomyxoma	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma.	mondoexuq1wtf												SCTID:404083008|UMLS:C0027149|ICD9:215.9|NCIT:C3254|ICDO:8841/1|EFO:1000087|ICDO:8841/0|MESH:D009232																		owl:Class
MONDO:0006081	biolink:NamedThing	anal melanoma	A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.	mondoexuq1wtf	anus melanoma|anal melanoma|melanoma (disease) of anus|melanoma of the anus|malignant melanoma of the anus|malignant anus melanoma|anus melanoma (disease)|anal malignant melanoma|melanoma of anus|malignant melanoma of anus					Editor note: TODO relationship to mucosa						ONCOTREE:ARMM|EFO:1000080|SCTID:276821000|UMLS:C0349538|DOID:14145|NCIT:C4639																		owl:Class
MONDO:0008362	biolink:NamedThing	ragweed sensitivity		mondoexuq1wtf	ragweed sensitivity											MESH:C566725|OMIM:179450																		owl:Class
MONDO:0018081	biolink:NamedThing	hemorrhagic fever-renal syndrome	Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.	mondoexuq1wtf	Hantavirus fever|Hantavirosis											MESH:C535630|UMLS:CN204401|Orphanet:340|ICD10:A98.5+|UMLS:C2930957|ICD10:N08.0*|MedDRA:10023484																		owl:Class
MONDO:0014929	biolink:NamedThing	retinitis pigmentosa 76	Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.	mondoexuq1wtf	retinitis pigmentosa caused by mutation in POMGNT1|retinitis pigmentosa 76|retinitis pigmentosa type 76|POMGNT1 retinitis pigmentosa|retinitis pigmentosa 76; RP76|RP76											OMIM:617123|UMLS:C4310704																		owl:Class
MONDO:0018258	biolink:NamedThing	Angora hair nevus		mondoexuq1wtf	Schauder syndrome											ICD10:Q82.5|UMLS:CN204833|Orphanet:370039																		owl:Class
MONDO:0003867	biolink:NamedThing	diffuse meningeal melanocytosis	A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)	mondoexuq1wtf	diffuse melanocytosis (morphologic abnormality)|diffuse melanosis|meningeal melanocytosis|diffuse melanocytosis											EFO:1000216|ICDO:8728/0|DOID:6379|NCIT:C6890|UMLS:C1266112																		owl:Class
MONDO:0003222	biolink:NamedThing	central nervous system melanocytic neoplasm	A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.	mondoexuq1wtf	melanocytic neoplasm of central nervous system|primary melanocytic lesions of the CNS|melanocytic neoplasm of CNS|central nervous system primary melanocytic lesion|melanocytic tumor of the CNS|central nervous system melanocytic tumor|melanocytic neoplasm of the CNS|melanocytic tumor of the central nervous system|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasm|central nervous system melanocytic neoplasms|melanocytic tumor of central nervous system|CNS melanocytic neoplasm|CNS melanocytic tumor|melanocytic tumor of CNS|primary melanocytic lesion of meninges											DOID:4955|SCTID:277523004|NCIT:C5504|EFO:1000493|UMLS:C1332887																		owl:Class
CL:0000762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030044	biolink:NamedThing	pseudo-TORCH syndrome 3		mondoexuq1wtf	PSEUDO-TORCH SYNDROME 3|PTORCH3|pseudo-torch syndrome 3											OMIM:618886																		owl:Class
MONDO:0014281	biolink:NamedThing	cholangiocarcinoma, susceptibility to		mondoexuq1wtf	cholangiocarcinoma, susceptibility to|Chlc, susceptibility to											OMIM:615619																		owl:Class
MONDO:0002309	biolink:NamedThing	papillary conjunctivitis	Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.	mondoexuq1wtf												UMLS:C0854165|DOID:2458|SCTID:416878008|NCIT:C35616|ICD9:372.39																		owl:Class
MONDO:0015811	biolink:NamedThing	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.	mondoexuq1wtf	Berti lymphoma|primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma											ICD10:C84.4|Orphanet:178528|SCTID:765136002																		owl:Class
MONDO:0100322	biolink:NamedThing	non-Zellweger spectrum disorder	A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.	mondoexuq1wtf	non-Zellweger spectrum disorder							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0012088	biolink:NamedThing	primary ciliary dyskinesia 5	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 5, without situs inversus|ciliary dyskinesia, primary, type 5|primary ciliary dyskinesia type 5|HYDIN primary ciliary dyskinesia|ciliary dyskinesia, primary, 5|primary ciliary dyskinesia 5 without situs inversus|primary ciliary dyskinesia caused by mutation in HYDIN|CILD5											UMLS:C1837615|OMIM:608647|DOID:0110617|MESH:C563886|ICD10:Q34.8																		owl:Class
MONDO:0007856	biolink:NamedThing	palmoplantar keratoderma-esophageal carcinoma syndrome	Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.	mondoexuq1wtf	palmoplantar keratoderma with esophageal cancer|keratosis palmaris Et plantaris with esophageal cancer|tylosis with esophageal cancer|keratosis palmoplantaris with esophageal cancer|keratosis palmaris et plantaris with esophageal cancer|keratosis palmoplantaris-esophageal carcinoma syndrome|palmoplantar keratoderma-esophageal carcinoma syndrome|Howell-Evans syndrome|howel-Evans syndrome|tylosis - oesophageal carcinoma|Bennion-Patterson syndrome|tylosis-oesophageal carcinoma syndrome|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|Toc											SCTID:111030006|GARD:0003102|DOID:0111506|MESH:C536164|OMIM:148500|Orphanet:2198														https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer				owl:Class
MONDO:0001896	biolink:NamedThing	obstructive hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.	mondoexuq1wtf	non-communicating hydrocephalus											COHD:440385|UMLS:C0549423|ICD10:G91.1|SCTID:230746009|ICD9:331.4|NCIT:C116347|DOID:14159																		owl:Class
MONDO:0014664	biolink:NamedThing	Joubert syndrome 23	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.	mondoexuq1wtf	JBTS23|Joubert syndrome 23|Joubert syndrome type 23|KIAA0586 Joubert syndrome|Joubert syndrome caused by mutation in KIAA0586											OMIM:616490|DOID:0110992|UMLS:C4084822																		owl:Class
MONDO:0022752	biolink:NamedThing	chromosome 16p13.3 deletion syndrome		mondoexuq1wtf	Rubinstein-Taybi syndrome, Severe|RSTS, Severe											MESH:C566433|UMLS:C3502510																		owl:Class
MONDO:0013461	biolink:NamedThing	inosine triphosphatase deficiency	An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.	mondoexuq1wtf	inosine triphosphatase deficiency|inosine triphosphate pyrophosphohydrolase deficiency											SCTID:238011005|UMLS:C0342800|OMIM:613850|NCIT:C129974|MESH:C564127|ICD9:277.2																		owl:Class
MONDO:0000271	biolink:NamedThing	tuberculous salpingitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.	mondoexuq1wtf	fallopian tube tuberculosis											ICD9:016.6|DOID:0050166|SCTID:49558004|UMLS:C0275933|ICD9:016.60|ICD10:A18.17																		owl:Class
MONDO:0003810	biolink:NamedThing	bladder diffuse clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.	mondoexuq1wtf	bladder diffuse clear cell adenocarcinoma											DOID:6210|NCIT:C39849|UMLS:C1511187																		owl:Class
MONDO:0017403	biolink:NamedThing	familial isolated arrhythmogenic ventricular dysplasia, right dominant form		mondoexuq1wtf	familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form|familial isolated arrhythmogenic ventricular dysplasia, classic form											UMLS:CN203147|ICD10:I42.8|Orphanet:293910																		owl:Class
MONDO:0006792	biolink:NamedThing	hyperglobulinemic purpura	Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.	mondoexuq1wtf												DOID:3325|UMLS:C0034151|EFO:1000972|MESH:D011694|SCTID:402852007																		owl:Class
MONDO:0003934	biolink:NamedThing	breast apocrine carcinoma	An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.	mondoexuq1wtf	apocrine carcinoma of breast|apocrine adenocarcinoma of breast|breast apocrine carcinoma|apocrine breast carcinoma|apocrine carcinoma of the breast|breast apocrine adenocarcinoma											UMLS:C1332316|DOID:6581|NCIT:C5141																		owl:Class
MONDO:0003542	biolink:NamedThing	dental pulp calcification		mondoexuq1wtf	pulp calcifications|pulp calcification|pulpal calcifications											DOID:5608|MESH:D003784|UMLS:C0011401|ICD10:K04.2|SCTID:57602001																		owl:Class
MONDO:0016304	biolink:NamedThing	classic pantothenate kinase-associated neurodegeneration		mondoexuq1wtf	neurodegeneration with brain iron accumulation type 1, classic form|PKAN, classic form|NBIA1, classic form											Orphanet:216866|UMLS:CN201109|ICD10:G23.0																		owl:Class
MONDO:0004713	biolink:NamedThing	lower gum cancer	A cancer involving a gingiva of lower jaw.	mondoexuq1wtf	malignant gingiva of lower jaw neoplasm|malignant tumour of lower gum|malignant tumor of lower gingiva|malignant neoplasm of gingiva of lower jaw|gingiva of lower jaw cancer|cancer of gingiva of lower jaw											ICD10:C03.1|UMLS:C0432581|SCTID:363384006|ICD9:143.1|DOID:9125																		owl:Class
MONDO:0013236	biolink:NamedThing	pancreatic cancer, susceptibility to, 3	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.	mondoexuq1wtf	PALB2 familial pancreatic carcinoma|susceptibility to pancreatic cancer 3|pancreatic cancer, susceptibility to, 3|pancreatic cancer, susceptibility to, type 3|Pnca3|familial pancreatic carcinoma caused by mutation in PALB2											OMIM:613348																		owl:Class
MONDO:0004216	biolink:NamedThing	pineal region germinoma	A germinoma that arises from the pineal gland.	mondoexuq1wtf	pineal germinoma|germinoma					Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency						MEDGEN:208928|DOID:7428|NCIT:C8712|Orphanet:91352|GARD:0002005|UMLS:C0854912																		owl:Class
MONDO:0018422	biolink:NamedThing	autosomal recessive spastic paraplegia type 70	Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.	mondoexuq1wtf	SPG70											ICD10:G11.4|UMLS:CN226129|Orphanet:401835																		owl:Class
MONDO:0010413	biolink:NamedThing	intellectual disability, X-linked 95		mondoexuq1wtf	mental retardation, X-linked 95|MRX95|intellectual disability, X-linked 95											OMIM:300716|MESH:C567470|UMLS:C2678034																		owl:Class
MONDO:0006121	biolink:NamedThing	calcifying fibrous tumor	A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.	mondoexuq1wtf	CFT|calcifying fibrous pseudotumor|calcifying fibrous tumor											EFO:1000148|NCIT:C6488|UMLS:C1332833																		owl:Class
MONDO:0009950	biolink:NamedThing	pyruvate kinase deficiency of red cells	Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.	mondoexuq1wtf	hemolytic anemia due to red cell pyruvate kinase deficiency|Pk deficiency|pyruvate kinase deficiency of red cells|pyruvate kinase deficiency of erythrocyte|hemolytic Anemia due to pyruvate Kinase deficiency|PK deficiency|pyruvate kinase deficiency of erythrocytes|pyruvate kinase deficiency											ICD10:D55.2|NCIT:C99037|GARD:0007514|DOID:0111077|OMIM:266200|MESH:C564858|SCTID:124331002|Orphanet:766|UMLS:C0340968																		owl:Class
MONDO:0012239	biolink:NamedThing	nemaline myopathy 1	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.	mondoexuq1wtf	TPM3 nemaline myopathy|nemaline myopathy 1|NEM1|Nem1|nemaline myopathy caused by mutation in TPM3|nemaline myopathy type 1|nemaline myopathy 1, autosomal dominant or recessive|Cap myopathy 1											MESH:C538348|OMIM:609284|UMLS:C1836448|DOID:0110926																		owl:Class
MONDO:0012343	biolink:NamedThing	aortic aneurysm, familial abdominal, 2		mondoexuq1wtf	AAA2|aortic aneurysm, familial abdominal, 2											UMLS:C1853364|OMIM:609782|MESH:C565229																		owl:Class
MONDO:0012564	biolink:NamedThing	Polyosteolysis-hyperostosis syndrome		mondoexuq1wtf	Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome											MESH:C563658|GARD:0010456|OMIM:610830|UMLS:C1835818														https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome				owl:Class
MONDO:0032849	biolink:NamedThing	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies		mondoexuq1wtf	NEDSOSB|NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES											OMIM:618651																		owl:Class
MONDO:0004421	biolink:NamedThing	sclerosing breast papilloma	A breast papilloma characterized by the presence of predominant sclerosing architectural features.	mondoexuq1wtf	Complex sclerosing papillary lesion of the breast|sclerosing breast papilloma|Complex sclerosing papillary lesion											NCIT:C27944|DOID:7984|UMLS:C1335932																		owl:Class
MONDO:0013631	biolink:NamedThing	lung cancer susceptibility 5		mondoexuq1wtf	LNCR5|lung cancer susceptibility 5											OMIM:614210|UMLS:C3280156																		owl:Class
MONDO:0017331	biolink:NamedThing	Pilotto syndrome	Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.	mondoexuq1wtf	cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation|cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability											UMLS:C2931484|GARD:0004368|Orphanet:2894|MESH:C537400														https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome				owl:Class
MONDO:0010983	biolink:NamedThing	dystonia 9	A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	mondoexuq1wtf	Cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|dystonia type 9|DYT9|choreoathetosis/spasticity, episodic|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|dystonia 9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity											Orphanet:53583|MESH:C563401|OMIM:601042|SCTID:715564000|UMLS:C1832855|DOID:0090044|ICD10:G24.8																		owl:Class
MONDO:0016303	biolink:NamedThing	congenitally uncorrected transposition of the great arteries with cardiac malformation		mondoexuq1wtf	congenitally uncorrected transposition of the great vessels with cardiac malformation|TGA with cardiac malformation											ICD10:Q20.3|Orphanet:216729																		owl:Class
MONDO:0013611	biolink:NamedThing	retinitis pigmentosa 62	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.	mondoexuq1wtf	MAK retinitis pigmentosa|retinitis pigmentosa type 62|retinitis pigmentosa caused by mutation in MAK|RP62|retinitis pigmentosa 62											OMIM:614181|ICD10:H35.5|DOID:0110380|UMLS:C3280042																		owl:Class
MONDO:0044310	biolink:NamedThing	Diamond-Blackfan anemia 17		mondoexuq1wtf	DBA17|Diamond-Blackfan anemia 17											OMIM:617409|UMLS:C4479428																		owl:Class
MONDO:0013499	biolink:NamedThing	Fanconi anemia complementation group P	Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.	mondoexuq1wtf	SLX4 Fanconi anemia|Slx4 Fanconi anemia|FANCP|Fanconi anemia, complementation group P|Fanconi anemia caused by mutation in Slx4|Fanconi anemia complementation group type P|Fanconi anemia caused by mutation in SLX4|Fanconi Anemia, complementation group type P											DOID:0111092|OMIM:613951																		owl:Class
MONDO:0003942	biolink:NamedThing	eosinophilic variant of chromophobe renal cell carcinoma		mondoexuq1wtf	eosinophilic variant of chromophobe renal cell carcinoma											NCIT:C27889|DOID:6606|UMLS:C1333405																		owl:Class
MONDO:0100290	biolink:NamedThing	colon serrated polyposis	The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				UMLS:C3272797|NCIT:C96470																		owl:Class
MONDO:0019581	biolink:NamedThing	acral persistent papular mucinosis	Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.	mondoexuq1wtf												UMLS:C0406660|SCTID:238949006|Orphanet:90396|ICD9:701.8|ICD10:L98.5																		owl:Class
MONDO:0001008	biolink:NamedThing	blepharophimosis	The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)	mondoexuq1wtf	blepharophimosis (disease)|blepharophimosis		blepharophimosis (disease)									DOID:10348|GARD:0005932|MESH:D016569|HP:0000581|ICD9:374.46|ICD10:H02.52																		owl:Class
MONDO:0012285	biolink:NamedThing	left ventricular noncompaction 2		mondoexuq1wtf	LVNC2|left ventricular noncompaction 2											UMLS:C1836118|OMIM:609470																		owl:Class
MONDO:0054723	biolink:NamedThing	spermatogenic failure 19		mondoexuq1wtf	SPGF19|spermatogenic failure 19											DOID:0070170|OMIM:617592																		owl:Class
MONDO:0017066	biolink:NamedThing	cervical spina bifida aperta		mondoexuq1wtf												SCTID:425687007|UMLS:CN202425|ICD9:741.91|Orphanet:268392																		owl:Class
MONDO:0016500	biolink:NamedThing	acute sensory ataxic neuropathy	Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	mondoexuq1wtf	acute sensory ataxic GBS|acute sensory ataxic Guillain-Barré syndrome|ASAN|acute sensory ataxic Guillain-BarrC) syndrome											ICD10:G61.0|SCTID:766049000|Orphanet:231466|UMLS:CN201503																		owl:Class
MONDO:0019811	biolink:NamedThing	tricuspid valve agenesis		mondoexuq1wtf	congenital unguarded tricuspid orifice											ICD10:Q22.4|Orphanet:95457																		owl:Class
MONDO:0008658	biolink:NamedThing	virus Rd114 RNA Complementarity		mondoexuq1wtf	virus Rd114 RNA Complementarity											OMIM:193070																		owl:Class
MONDO:0010638	biolink:NamedThing	keratosis follicularis-dwarfism-cerebral atrophy syndrome	Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	mondoexuq1wtf	dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis, dwarfism, and cerebral atrophy|keratosis follicularis dwarfism and cerebral atrophy											GARD:0003099|OMIM:308830|Orphanet:2339|UMLS:C1839910|ICD10:Q87.1|MESH:C536158														https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy				owl:Class
MONDO:0017872	biolink:NamedThing	Lujo hemorrhagic fever	Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.	mondoexuq1wtf	Zambian hemorrhagic fever											UMLS:CN203921|SCTID:716585008|ICD10:A96.8|DOID:0050202|UMLS:C4274433|Orphanet:319213																		owl:Class
MONDO:0100069	biolink:NamedThing	hearing impairment and infertile male syndrome	A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.	mondoexuq1wtf	HIIMS				2018-12-17 19:16:55+00:00	There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958).																								owl:Class
MONDO:0006933	biolink:NamedThing	pulmonary plasma cell granuloma	A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.	mondoexuq1wtf	granuloma, plasma cell, pulmonary|lymphocytic pseudotumor of lung|sclerosing hemangiocytoma of lung											EFO:1001135|UMLS:C0085269|SCTID:1648002|DOID:3677|MESH:D016726|ICD9:518.89																		owl:Class
MONDO:0010487	biolink:NamedThing	intellectual disability, X-linked 99	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	mondoexuq1wtf	USP9X non-syndromic X-linked intellectual disability|mental retardation, X-linked 99|mental retardation, X-linked type 99|intellectual disability, X-linked type 99|non-syndromic X-linked intellectual disability caused by mutation in USP9X|MRX99|intellectual disability, X-linked 99											OMIM:300919|UMLS:C3806746																		owl:Class
MONDO:0004640	biolink:NamedThing	alcoholic gastritis	Inflammation of the stomach resulting from alcohol ingestion.	mondoexuq1wtf	alcoholic gastritis, with hemorrhage|alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis											ICD10:K29.2|ICD9:535.3|DOID:8680|SCTID:2043009|ICD9:535.30|NCIT:C26977|COHD:195300|UMLS:C0156076																		owl:Class
MONDO:0015686	biolink:NamedThing	primary peritoneal carcinoma	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	mondoexuq1wtf	primary peritoneal carcinoma (disease)|primary peritoneal serous carcinoma|serous surface papillary carcinoma|Extra-ovarian primary peritoneal carcinoma|PPC|primary peritoneal carcinoma|primary peritoneal cancer|EOPPC		primary peritoneal carcinoma (disease)									UMLS:CN200184|HP:0030406|NCIT:C40022|ICD10:C48.2|Orphanet:168829																		owl:Class
MONDO:0033613	biolink:NamedThing	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities		mondoexuq1wtf	NEDSWMA											OMIM:619026																		owl:Class
MONDO:0010972	biolink:NamedThing	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	mondoexuq1wtf	Ferlini-Ragno-Calzolari syndrome|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|hydrocephalus, skeletal anomalies, and mental disturbance|Waaler-Aarskog syndrome											SCTID:721229003|Orphanet:2180|OMIM:600991|ICD10:Q87.8|MESH:C536461|GARD:0005518																		owl:Class
MONDO:0002196	biolink:NamedThing	perinatal intestinal perforation		mondoexuq1wtf												ICD10:P78.0|COHD:199925|SCTID:65390006|UMLS:C0159006|ICD9:777.6|DOID:2073																		owl:Class
MONDO:0012750	biolink:NamedThing	lethal arthrogryposis-anterior horn cell disease syndrome		mondoexuq1wtf	Vuopala disease|lethal arthrogryposis with anterior horn cell disease|LAAHD											MESH:C567502|UMLS:C2678471|SCTID:715565004|OMIM:611890|Orphanet:53696																		owl:Class
MONDO:0012512	biolink:NamedThing	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.	mondoexuq1wtf	concentric cardiomyopathy, hypotonia, and lactic acidosis|COXPD3|fatal mitochondrial disease due to COXPD3|combined oxidative phosphorylation deficiency 3|combined oxidative phosphorylation deficiency type 3|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency caused by mutation in TSFM|TSFM combined oxidative phosphorylation deficiency											Orphanet:168566|DOID:0111486|ICD10:E88.8|OMIM:610505|MESH:C566467|SCTID:720951008																		owl:Class
MONDO:0013643	biolink:NamedThing	hyperuricemic nephropathy, familial juvenile type 3		mondoexuq1wtf	hyperuricemic nephropathy, familial juvenile, 3|HNFJ3											OMIM:614227|UMLS:C3280216																		owl:Class
MONDO:0000988	biolink:NamedThing	discharging ear	Discharge or drainage of fluid from the ear.	mondoexuq1wtf												ICD10:H92.1|DOID:10261|ICD9:388.6|ICD10:H92.10|ICD9:388.60																		owl:Class
MONDO:0012829	biolink:NamedThing	inflammatory bowel disease 12	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3	mondoexuq1wtf	IBD12|inflammatory bowel disease type 12|inflammatory bowel disease 12											UMLS:C2677105|OMIM:612241|MESH:C567388|DOID:0110887																		owl:Class
MONDO:0044739	biolink:NamedThing	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome		mondoexuq1wtf	Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome|Stevens-Johnson/TEN overlap syndrome											ICD10:L51.8|Orphanet:506784																		owl:Class
MONDO:0001901	biolink:NamedThing	selective IgG subclass deficiency	A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.	mondoexuq1wtf	selective IgG immunodeficiency|selective deficiency of IgG|selective Immunoglobulin G subclass deficiency|selective IgG deficiency disease|Immunoglobin G subclass deficiency|selective immunoglobulin G deficiency											DOID:14176|ICD10:D80.3|SCTID:190981001|ICD9:279.03|NCIT:C27024|MESH:D017099																		owl:Class
MONDO:0004898	biolink:NamedThing	total circumpapillary dystrophy of choroid		mondoexuq1wtf	circumpapillary dystrophy of choroid, total											UMLS:C0154896|SCTID:59753003|ICD9:363.52|DOID:9842																		owl:Class
MONDO:0015520	biolink:NamedThing	late infantile CACH syndrome		mondoexuq1wtf												ICD10:E75.2|Orphanet:157716|UMLS:CN199659																		owl:Class
MONDO:0011401	biolink:NamedThing	Alzheimer disease without neurofibrillary tangles		mondoexuq1wtf	AD15|Alzheimer disease without neurofibrillary tangles|Alzheimer's disease without neurofibrillary tangles|Alzheimer disease 15|Alzheimer's disease 15|Alzheimer's disease type 15											MESH:C566998|DOID:0110048|OMIM:611155|MESH:C536599|OMIM:604154|GARD:0007190|UMLS:C1858751|UMLS:C1970143|ICD10:G30																		owl:Class
MONDO:0033630	biolink:NamedThing	neurodevelopmental disorder with speech impairment and dysmorphic facies		mondoexuq1wtf	NEDSID											OMIM:619056																		owl:Class
MONDO:0044657	biolink:NamedThing	MME-related autosomal dominant Charcot Marie Tooth disease type 2		mondoexuq1wtf	MME-related autosomal dominant hereditary motor and sensory neuropathy type 2|MME-related autosomal dominant CMT2											Orphanet:497757																		owl:Class
MONDO:0008053	biolink:NamedThing	myopia 2, autosomal dominant		mondoexuq1wtf	MYP2|myopia 2, autosomal dominant											OMIM:160700|MESH:C563541|UMLS:C1834531																		owl:Class
MONDO:0006996	biolink:NamedThing	thyroid crisis	Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.	mondoexuq1wtf	thyroid storm|thyrotoxic crisis|thyroid crisis|thyroid crisis (disease)		thyroid crisis (disease)									ICD9:242.91|MedDRA:10043705|ICD9:242.81|NCIT:C112836|UMLS:C0040127|ICD10:E05.5|MESH:D013958|HP:0011782|DOID:12837|SCTID:29028009|EFO:1001212																		owl:Class
MONDO:0016020	biolink:NamedThing	frontal encephalocele		mondoexuq1wtf	anterior encephalocele											ICD10:Q01.0|Orphanet:1931|SCTID:253103006																		owl:Class
MONDO:0001367	biolink:NamedThing	chronic congestive splenomegaly	Chronic form of congestive splenomegaly.	mondoexuq1wtf	congestive splenomegaly, chronic											UMLS:C0398661|COHD:196951|DOID:11787|ICD10:D73.2|SCTID:191382009|ICD9:289.51																		owl:Class
MONDO:0010693	biolink:NamedThing	nystagmus 1, congenital, X-linked	Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.	mondoexuq1wtf	Xlpan|Nystagmus, infantile periodic alternating, X-linked|congenital nystagmus caused by mutation in FRMD7|NYS1|Nystagmus 1, congenital, X- linked|nystagmus 1, congenital, X-linked|Nystagmus 1, infantile, X-linked|Nystagmus, infantile idiopathic|Nystagmus, congenital motor, 1|Nystagmus, infantile idiopathic, formerly|NYSTAGMUS 1, congenital, X-linked|FRMD7 congenital nystagmus											GARD:0002969|UMLS:C1839580|OMIM:310700														https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked				owl:Class
MONDO:0007811	biolink:NamedThing	ichthyosis-cheek-eyebrow syndrome	Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.	mondoexuq1wtf	ichthyosis--cheek--eyebrow syndrome|ichthyosis cheek eyebrow syndrome|Sidransky-Feinstein-Goodman syndrome|Sidransky Feinstein Goodman syndrome|Ice syndrome											Orphanet:2267|OMIM:146720|SCTID:716097001|MESH:C536084|GARD:0002947																		owl:Class
MONDO:0017467	biolink:NamedThing	tibio-fibular synostosis	Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	mondoexuq1wtf	Tibio-fibular fusion											Orphanet:295028|SCTID:737581000|ICD10:Q74.2																		owl:Class
MONDO:0010032	biolink:NamedThing	Sjogren-Larsson-like ichthyosis without CNS or eye involvement		mondoexuq1wtf	Sjogren-Larsson-like ichthyosis without CNS or eye involvement|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement|Sjogren-Larsson-like syndrome											OMIM:270220|GARD:0004885|UMLS:C1849195|MESH:C536668																		owl:Class
MONDO:0002962	biolink:NamedThing	epidermolytic acanthoma	A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.	mondoexuq1wtf												NCIT:C27516|DOID:4323|UMLS:C1333414																		owl:Class
MONDO:0004101	biolink:NamedThing	multicentric papillary thyroid carcinoma	A papillary carcinoma arising from the thyroid gland from multiple foci.	mondoexuq1wtf	multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid carcinoma|multicentric papillary thyroid gland carcinoma											NCIT:C37304|UMLS:C1334817|DOID:7086																		owl:Class
MONDO:0017337	biolink:NamedThing	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	mondoexuq1wtf												ICD10:E27.1|Orphanet:289548|SCTID:764960005																		owl:Class
MONDO:0017517	biolink:NamedThing	brachydactyly of toes, unilateral		mondoexuq1wtf	short toes, unilateral											ICD10:Q72.8|Orphanet:295132																		owl:Class
MONDO:0018626	biolink:NamedThing	paratyphoid fever	A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.	mondoexuq1wtf	paratyphoid A fever|paratyphoid b|paratyphoid fever A|paratyphoid C fever|paratyphoid c|paratyphoid fever B|paratyphoid fever C|paratyphoid a|paratyphoid B fever|paratyphoid											ICD10:A01.1|SCTID:51254007|NCIT:C34897|UMLS:C0030528|UMLS:C0343376|ICD9:002.9|EFO:0007420|ICD10:A01.4|ICD9:002.2|ICD10:A01.3|ICD9:002.1|ICD10:A01.2|Orphanet:443227|DOID:3055|ICD9:002.3|UMLS:C0343377|UMLS:C0343375|MESH:D010284																		owl:Class
MONDO:0011778	biolink:NamedThing	multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.	mondoexuq1wtf	AGBK|multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|Al-Gazali-Bakalinova syndrome|AL-Gazali-BAKALINOVA syndrome|Mmedf|macrocephaly with multiple epiphyseal dysplasia and distinctive facies											MESH:C564621|OMIM:607131|Orphanet:166024|ICD10:Q77.3|SCTID:719688002																		owl:Class
MONDO:0012477	biolink:NamedThing	retinitis pigmentosa 33	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.	mondoexuq1wtf	RP33|retinitis pigmentosa type 33|SNRNP200 retinitis pigmentosa|RP 33|retinitis pigmentosa caused by mutation in SNRNP200|retinitis pigmentosa 33											UMLS:C1835895|DOID:0110366|ICD10:H35.5|OMIM:610359|MESH:C563676|GARD:0010400														https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33				owl:Class
MONDO:0024559	biolink:NamedThing	AAT1		mondoexuq1wtf	AAT1|aneurysm, thoracic aortic|aortic dissection, familial|aortic aneurysm, familial thoracic|annuloaortic ectasia|FAA1|Erdheim cystic medial necrosis of aorta|aortic aneurysm, familial thoracic 1											OMIM:607086																		owl:Class
MONDO:0010054	biolink:NamedThing	spinal muscular atrophy with intellectual disability		mondoexuq1wtf	spinal muscular atrophy with mental retardation|spinal muscular atrophy with intellectual disability											MESH:C564807|UMLS:C1849109|OMIM:271109																		owl:Class
MONDO:0045039	biolink:NamedThing	systemic basidiobolomycosis		mondoexuq1wtf	disseminated basidiobolomycosis											SCTID:240787008|UMLS:C0343967																		owl:Class
MONDO:0009999	biolink:NamedThing	autosomal recessive Robinow syndrome	Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.	mondoexuq1wtf	costovertebral segmentation defect with mesomelia, formerly|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|Covesdem syndrome, formerly|costovertebral segmentation defect with mesomelia|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly|COVESDEM syndrome|costovertebral segmentation defect-mesomelia syndrome|Covesdem syndrome|Robinow syndrome, autosomal recessive|RRS											ICD10:Q87.1|DOID:0060764|MESH:C535863|OMIM:268310|UMLS:C1849334|Orphanet:1507																		owl:Class
MONDO:0017283	biolink:NamedThing	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		mondoexuq1wtf	monosomy 10p11.21p12.31|10p12p11 microdeletion syndrome|deletion 10p11.21p12.31|Del(10)(p11.21p12.31)											UMLS:CN202845|ICD10:Q83.5|Orphanet:284169																		owl:Class
MONDO:0014959	biolink:NamedThing	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		mondoexuq1wtf	mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|MTDPS12A											OMIM:617184|DOID:0080130|UMLS:C4310676																		owl:Class
MONDO:0004066	biolink:NamedThing	intermediate cell type ciliary body melanoma	Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	mondoexuq1wtf	Intermediate cell type ciliary body melanoma|ciliary body intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of ciliary body											DOID:6997|UMLS:C1334209|NCIT:C6118																		owl:Class
MONDO:0024863	biolink:NamedThing	small size posterior uveal melanoma		mondoexuq1wtf	small size posterior uveal melanoma											NCIT:C9089|UMLS:C0278867																		owl:Class
MONDO:0003927	biolink:NamedThing	posterior uveal melanoma		mondoexuq1wtf	small size posterior uveal melanoma|medium/large size posterior uveal melanoma											DOID:6566																		owl:Class
MONDO:0008131	biolink:NamedThing	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant		mondoexuq1wtf	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant											MESH:C563497|OMIM:165199|UMLS:C1833831																		owl:Class
MONDO:0008623	biolink:NamedThing	Undritz anomaly		mondoexuq1wtf	Undritz anomaly|hypersegmentation of nuclei of polymorphonuclear leukocytes											MESH:C566014|OMIM:191500|UMLS:C1860604																		owl:Class
MONDO:0002961	biolink:NamedThing	large cell acanthoma		mondoexuq1wtf												UMLS:C1334362|DOID:4321|NCIT:C27518																		owl:Class
MONDO:0012511	biolink:NamedThing	preterm premature rupture of the membranes	A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.	mondoexuq1wtf	PPROM|preterm premature rupture of the membranes											SCTID:312974005|OMIM:610504|MESH:C563032|DOID:0111144|NCIT:C92862																		owl:Class
MONDO:0023250	biolink:NamedThing	global disaccharide intolerance		mondoexuq1wtf												GARD:0008386														https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance				owl:Class
MONDO:0020059	biolink:NamedThing	gonosome number anomaly		mondoexuq1wtf	Sex-chromosome number anomaly											Orphanet:98156																		owl:Class
MONDO:0001297	biolink:NamedThing	cardiac tamponade	Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.	mondoexuq1wtf	rose's tamponade|pericardial tamponade											MESH:D002305|COHD:318450|SCTID:35304003|ICD10:I31.4|EFO:1001285|ICD9:423.3|DOID:115|NCIT:C50481|UMLS:C0007177																		owl:Class
MONDO:0012276	biolink:NamedThing	generalized epilepsy-paroxysmal dyskinesia syndrome	Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.	mondoexuq1wtf	epilepsy, generalized, with paroxysmal dyskinesia|generalized epilepsy and paroxysmal dyskinesia|GEPD|PNKD3|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy											UMLS:C1836173|Orphanet:79137|ICD10:G40.3|MESH:C563719|OMIM:609446																		owl:Class
CL:0000845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:2000074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001404	biolink:NamedThing	ecthyma	An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)	mondoexuq1wtf												MESH:D004473|SCTID:85791004|EFO:1000689|ICD9:686.8|DOID:11907|UMLS:C0013568																		owl:Class
MONDO:0006044	biolink:NamedThing	nephrosclerosis	Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.	mondoexuq1wtf	renal sclerosis											DOID:11664|SCTID:32916005|MESH:D009400|EFO:1000041|GARD:0007179|ICD10:I12|ICD10:N26.9|ICD9:587|UMLS:C0027719														https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis				owl:Class
MONDO:0010083	biolink:NamedThing	succinic semialdehyde dehydrogenase deficiency	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.	mondoexuq1wtf	gamma-hydroxybutyricaciduria|SSADHD|GABA metabolic defect|succinic semialdehyde dehydrogenase deficiency|4-hydroxybutyric aciduria|SSADH|gamma-hydroxybutyric aciduria|Ssadh deficiency|SSADH deficiency											MESH:C535803|UMLS:C0268631|SCTID:49748000|DOID:0060175|GARD:0007695|ICD10:E72.8|Orphanet:22|OMIM:271980														https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency				owl:Class
MONDO:0020400	biolink:NamedThing	congenital supravalvular mitral ring	Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.	mondoexuq1wtf												Orphanet:99059|ICD10:Q23.2																		owl:Class
MONDO:0054750	biolink:NamedThing	amyotrophic lateral sclerosis, susceptibility to, 24		mondoexuq1wtf	ALS24|amyotrophic lateral sclerosis, susceptibility to, 24											UMLS:CN842244|OMIM:617892																		owl:Class
MONDO:0002444	biolink:NamedThing	melancholia	A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.	mondoexuq1wtf	depression with melancholic features|melancholic depression											NCIT:C34812|DOID:2848																		owl:Class
MONDO:0018582	biolink:NamedThing	GCGR-related hyperglucagonemia		mondoexuq1wtf	Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor											GARD:0010460|Orphanet:438274|UMLS:CN237611|ICD10:E16.3																		owl:Class
MONDO:0015724	biolink:NamedThing	non-distal trisomy 13q	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	mondoexuq1wtf	non-distal duplication 13q|non-telomeric trisomy 13q|non-distal trisomy type 13q											SCTID:764996009|Orphanet:1702|ICD10:Q92.3																		owl:Class
MONDO:0007242	biolink:NamedThing	butyrylesterase 1		mondoexuq1wtf	butyrylesterase 1|Butyrylesterase type 1											OMIM:113960																		owl:Class
MONDO:0024360	biolink:NamedThing	central sleep apnea caused by high altitude		mondoexuq1wtf	central sleep apnea caused by high altitude|central sleep apnea due to high altitude											SCTID:91441000119109|UMLS:C4075997																		owl:Class
MONDO:0018818	biolink:NamedThing	facial diplegia with paresthesias		mondoexuq1wtf	facial diplegia with paresthesias variant of Guillain-BarrC) syndrome|facial diplegia with paresthesias variant of GBS|facial diplegia with paresthesias variant of Guillain-Barré syndrome											UMLS:CN776915|Orphanet:480701																		owl:Class
MONDO:0015171	biolink:NamedThing	congenital enterocyte heparan sulfate deficiency	Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.	mondoexuq1wtf												ICD10:P78.3|SCTID:725591002|Orphanet:103910																		owl:Class
MONDO:0018834	biolink:NamedThing	adenylosuccinate synthetase-like 1-related distal myopathy		mondoexuq1wtf	ADSSL1-related distal myopathy											Orphanet:482601																		owl:Class
MONDO:0013457	biolink:NamedThing	Leber congenital amaurosis 15	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.	mondoexuq1wtf	retinitis pigmentosa, juvenile, Tulp1-related|Leber congenital amaurosis 15|Leber congenital amaurosis type 15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in TULP1|LCA15											DOID:0110189|UMLS:C3151206|OMIM:613843|ICD10:H35.5|GARD:0010884														https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15				owl:Class
MONDO:0012007	biolink:NamedThing	scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities		mondoexuq1wtf	anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities|scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities											MESH:C564262|UMLS:C1842315|OMIM:608281																		owl:Class
MONDO:0011033	biolink:NamedThing	type 1 diabetes mellitus 13	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.	mondoexuq1wtf	insulin-dependent diabetes mellitus 13|diabetes mellitus, insulin-dependent, 13|IDDM13											UMLS:C1832474|MESH:C563352|ICD10:E10|OMIM:601318|DOID:0110752																		owl:Class
MONDO:0008598	biolink:NamedThing	trichodysplasia-xeroderma syndrome	Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	mondoexuq1wtf	trichodysplasia-xeroderma|trichodysplasia xeroderma											Orphanet:3361|OMIM:190360|MESH:C566032|UMLS:C1860822|GARD:0005261																		owl:Class
MONDO:0008255	biolink:NamedThing	platelet factor 3 deficiency		mondoexuq1wtf	platelet factor 3 deficiency											UMLS:C1868256|OMIM:173450|MESH:C566798																		owl:Class
MONDO:0006369	biolink:NamedThing	pineal parenchymal tumor of intermediate differentiation	A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)	mondoexuq1wtf	PPTID|pineal parenchymal tumor of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumors of intermediate differentiation|pineal parenchymal tumour of intermediate differentiation											GARD:0010644|EFO:1000474|NCIT:C6967|ONCOTREE:PPTID|SCTID:715904005|DOID:5030|UMLS:C1367859																		owl:Class
MONDO:0004124	biolink:NamedThing	prostate stromal sarcoma	A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.	mondoexuq1wtf	stromal sarcoma of prostate|prostate stromal sarcoma|stromal sarcoma of the prostate											DOID:7152|NCIT:C5524|UMLS:C1335521																		owl:Class
MONDO:0002778	biolink:NamedThing	epidural spinal canal meningioma	A meningioma that arises in the epidural spinal canal space.	mondoexuq1wtf	meningioma of the epidural spinal canal|meningioma of epidural spinal canal											UMLS:C1333417|DOID:3809|NCIT:C5310																		owl:Class
MONDO:0012242	biolink:NamedThing	syncope, familial vasovagal		mondoexuq1wtf	syncope, familial Neurocardiogenic|familial vasovagal syncope|syncope familial neurocardiogenic|VVS|familial neurocardiogenic syncope|syncope, familial VASOVAGAL											OMIM:609289|MESH:C536849|GARD:0009502|UMLS:C1836438																		owl:Class
MONDO:0020707	biolink:NamedThing	central hearing loss	Hearing loss resulting from disorders of the central nervous system auditory pathways.	mondoexuq1wtf	central hearing loss											NCIT:C34662																		owl:Class
MONDO:0018420	biolink:NamedThing	autosomal recessive spastic paraplegia type 68		mondoexuq1wtf	SPG68											Orphanet:401825|ICD10:G11.4|UMLS:CN226127																		owl:Class
MONDO:0001492	biolink:NamedThing	kyphoscoliotic heart disease		mondoexuq1wtf												SCTID:45650007|ICD10:I27.1|UMLS:C0152102|DOID:12325|ICD9:416.1|COHD:317000																		owl:Class
MONDO:0006216	biolink:NamedThing	gallbladder adenoma	A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.	mondoexuq1wtf	adenoma of the gallbladder|gall bladder adenoma|adenoma of gallbladder|gallbladder adenoma											EFO:1000263|NCIT:C7720|UMLS:C0238137|DOID:0050893																		owl:Class
MONDO:0007298	biolink:NamedThing	spinocerebellar ataxia type 29	Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	mondoexuq1wtf	spinocerebellar ataxia type 29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|aplasia of cerebellar vermis|ACV|cerebellar vermis aplasia|SCA29|spinocerebellar ataxia 29|congenital nonprogressive spinocerebellar ataxia|cerebellar ataxia early-onset nonprogressive											GARD:0010480|UMLS:C4274987|UMLS:C1861732|SCTID:715825009|Orphanet:208513|DOID:0050978|OMIM:117360|ICD10:G11.0|MESH:C537206																		owl:Class
MONDO:0032608	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 3		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3|MC1DN3											OMIM:618224																		owl:Class
MONDO:0005884	biolink:NamedThing	opisthorchiasis	Infection with flukes of the genus Opisthorchis.	mondoexuq1wtf	infection by Opisthorchis|infection due to Opisthorchis (felineus)(viverrini)|infection due to cat liver fluke											ICD10:B66.0|GARD:0009746|MESH:D009889|SCTID:1059007|DOID:13768|ICD9:121.0|UMLS:C0029106|EFO:0007404														https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis				owl:Class
MONDO:0100277	biolink:NamedThing	disorder of peroxisomal alpha oxidation	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.	mondoexuq1wtf	disorder of peroxisomal alpha oxidation							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0007449	biolink:NamedThing	dermo-odonto dysplasia	Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.	mondoexuq1wtf	ectodermal dysplasia, hair-nail-Tooth type|dermo-odonto-dysplasia|dermo-odonto dysplasia|dermo odontodysplasia|DERMOODONTODYSPLASIA|dermoodonto dysplasia											UMLS:C1852144|GARD:0001816|Orphanet:1660|OMIM:125640|UMLS:C4303591|MESH:C565103|SCTID:721091003|ICD10:Q82.4																		owl:Class
MONDO:0013235	biolink:NamedThing	pancreatic cancer, susceptibility to, 2	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.	mondoexuq1wtf	pancreatic cancer, susceptibility to, type 2|familial pancreatic carcinoma caused by mutation in BRCA2|Pnca2|pancreatic cancer, susceptibility to, 2|BRCA2 familial pancreatic carcinoma|susceptibility to pancreatic cancer 2											OMIM:613347																		owl:Class
MONDO:0013084	biolink:NamedThing	neuroblastoma, susceptibility to, 4		mondoexuq1wtf	neuroblastoma, susceptibility to, 4|NBLST4											OMIM:613015																		owl:Class
MONDO:0009551	biolink:NamedThing	magnesium, elevated red cell		mondoexuq1wtf	magnesium, elevated red cell											OMIM:248260																		owl:Class
MONDO:0016978	biolink:NamedThing	poorly differentiated thymic neuroendocrine carcinoma		mondoexuq1wtf												UMLS:CN202280|SCTID:717921000|ICD10:C37|Orphanet:263339																		owl:Class
MONDO:0012433	biolink:NamedThing	Senior-Loken syndrome 6	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.	mondoexuq1wtf	CEP290 Senior-Loken syndrome|Senior-Loken syndrome 6|Senior-Loken syndrome caused by mutation in CEP290|Senior-Loken syndrome type 6|SLSN6|SENIOR-Loken syndrome 6											MESH:C565708|OMIM:610189|UMLS:C1857779																		owl:Class
MONDO:0001181	biolink:NamedThing	secondary corneal edema		mondoexuq1wtf												DOID:11032|ICD9:371.22|ICD10:H18.23|COHD:380720|SCTID:27536004|UMLS:C0155110																		owl:Class
MONDO:0032574	biolink:NamedThing	osteochondrodysplasia, brachydactyly, and overlapping malformed digits		mondoexuq1wtf	OCBMD|OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS											OMIM:618167																		owl:Class
MONDO:0004364	biolink:NamedThing	choroid necrotic melanoma		mondoexuq1wtf	necrotic melanoma of choroid|necrotic choroid melanoma|choroid necrotic melanoma|necrotic melanoma of the choroid											DOID:7807|UMLS:C1333026|NCIT:C6865																		owl:Class
MONDO:0004365	biolink:NamedThing	necrotic uveal melanoma	A uveal melanoma characterized by the presence of tumor cell necrosis.	mondoexuq1wtf												DOID:7808|NCIT:C7990|UMLS:C1334931																		owl:Class
MONDO:0011889	biolink:NamedThing	Charcot-Marie-Tooth disease type 2I	Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	mondoexuq1wtf	Charcot-Marie-Tooth disease, axonal, type 2I|Charcot Marie Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|CMT 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|CMT2I|Charcot-Marie-Tooth neuropathy, type 2I											ICD10:G60.0|UMLS:CN207466|DOID:0110158|OMIM:607677|Orphanet:99942|GARD:0009197|SCTID:717013009														https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i				owl:Class
MONDO:0015479	biolink:NamedThing	submucosal cleft palate		mondoexuq1wtf												ICD10:Q35.9|Orphanet:155878																		owl:Class
MONDO:0001304	biolink:NamedThing	benign hypertensive renal disease		mondoexuq1wtf	hypertensive renal disease, benign|hypertensive renal disease, benign, without mention of renal failure											UMLS:C0155596|DOID:11520|SCTID:193003|ICD9:403.1|ICD9:403.10|COHD:193493																		owl:Class
MONDO:0009702	biolink:NamedThing	myopathy due to malate-aspartate shuttle defect		mondoexuq1wtf	myopathy due to malate-aspartate shuttle defect											OMIM:254960|UMLS:C1850744|MESH:C564973																		owl:Class
MONDO:0023106	biolink:NamedThing	Fairbank disease		mondoexuq1wtf	epiphyseal dysplasia Fairbank type|epiphyseal dysplasia, Fairbank type|Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, ribbing type|dysplasia epiphysealis multiplex											MESH:C536393																		owl:Class
MONDO:0014115	biolink:NamedThing	hypomyelination with brain stem and spinal cord involvement and leg spasticity		mondoexuq1wtf	hypomyelination with brainstem and spinal cord involvement and leg spasticity|HBSL|aspartyl-tRNA synthetase deficiency											OMIM:615281|UMLS:C3809008|Orphanet:363412|ICD10:E75.2																		owl:Class
MONDO:0001514	biolink:NamedThing	prolapse of urethra	Prolapse of the urethral mucosa from the exterior urethral opening.	mondoexuq1wtf	urethrocele											UMLS:C0238502|DOID:12369|ICD9:599.5|COHD:441906|SCTID:12068006|ICD10:N81.0|ICD9:618.03																		owl:Class
MONDO:0012114	biolink:NamedThing	Ehlers-Danlos syndrome, Beasley-Cohen type		mondoexuq1wtf	Ehlers-Danlos syndrome with mental retardation, deafness, and cataract|Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome, Beasley-Cohen type											UMLS:C1837462|MESH:C536199|OMIM:608763																		owl:Class
MONDO:0004819	biolink:NamedThing	indolent plasma cell myeloma		mondoexuq1wtf	indolent myeloma|indolent plasma cell myeloma|indolent multiple myeloma											NCIT:C7150|DOID:9550|UMLS:C2049069|SCTID:441313008																		owl:Class
MONDO:0016216	biolink:NamedThing	adult hepatocellular carcinoma	Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.	mondoexuq1wtf	adult hepatocellular carcinoma|adult primary hepatoma|hepatocellular carcinoma of adults|adult primary liver cell carcinoma|adult hepatoma|adult primary carcinoma of the liver cell|adult primary carcinoma of liver cell|adult HCC|adult primary hepatocellular carcinoma|hepatocellular cancer											DOID:0070328|Orphanet:210159|UMLS:C0279607|ICD10:C22.0|NCIT:C7956|UMLS:CN200978																		owl:Class
MONDO:0019192	biolink:NamedThing	AKT2-related familial partial lipodystrophy		mondoexuq1wtf	AKT2-related FPLD|familial partial lipodystrophy due to AKT2 mutations											ICD10:E88.1|UMLS:CN205772|UMLS:CN536246|GARD:0012599|Orphanet:79085																		owl:Class
MONDO:0001884	biolink:NamedThing	abducens nerve neoplasm	A neoplasm involving a abducens nerve.	mondoexuq1wtf	abducens nerve neoplasms|tumor of abducens nerve|neoplasm of abducens nerve|tumor of sixth cranial nerve|neoplasm of the abducens nerve|tumor of the sixth cranial nerve|abducens nerve neoplasm (disease)|sixth cranial nerve tumor|abducens nerve tumor|neoplasm of the sixth cranial nerve|sixth cranial nerve neoplasms|tumor of the abducens nerve|VIth cranial nerve neoplasms|sixth cranial nerve neoplasm|neoplasm of sixth cranial nerve|sixth cranial nerve tumors|abducens nerve tumors|VIth cranial nerve tumors											UMLS:C1263898|ICD9:239.7|DOID:14125|NCIT:C5826|SCTID:126972009																		owl:Class
MONDO:0042233	biolink:NamedThing	disseminated candidiasis	Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.	mondoexuq1wtf	disseminated candidiasis|systemic candidiasis|disseminated candida|systemic candida infections|disseminated candidosis|invasive candidiasis											SCTID:70572005|GARD:0001076|NCIT:C116812																		owl:Class
MONDO:0010842	biolink:NamedThing	multiple cutaneous and mucosal venous malformations	Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.	mondoexuq1wtf	cutaneous and mucosal venous malformation|Vmcm1|VENOUS malformations, multiple cutaneous and mucosal|mucocutaneous venous malformations|VMCM											MESH:C563977|SCTID:699301008|DOID:0050792|OMIM:600195|ICD10:Q27.8|Orphanet:2451																		owl:Class
MONDO:0005007	biolink:NamedThing	colon mucinous adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	mondoexuq1wtf	colon colloidal adenocarcinoma|colon mucinous adenocarcinoma|mucinous adenocarcinoma of the colon|colloidal colon adenocarcinoma|colon colloid adenocarcinoma|mucinous colon adenocarcinoma|colonic mucinous adenocarcinoma|colonic colloidal adenocarcinoma|colloid adenocarcinoma of colon|colloidal adenocarcinoma of the colon|mucinous adenocarcinoma of colon|colloid adenocarcinoma of the colon|colloidal adenocarcinoma of colon|colonic colloid adenocarcinoma|colloid colon adenocarcinoma											EFO:0000364|NCIT:C7966|UMLS:C0279639|DOID:3029																		owl:Class
MONDO:0014910	biolink:NamedThing	primary ciliary dyskinesia 35	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.	mondoexuq1wtf	TTC25 primary ciliary dyskinesia|primary ciliary dyskinesia type 35|primary ciliary dyskinesia 35 with or without situs inversus|ciliary dyskinesia, primary, type 35|CILD35|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia caused by mutation in TTC25|ciliary dyskinesia, primary, 35											OMIM:617092|DOID:0110620|UMLS:C4310721																		owl:Class
MONDO:0013865	biolink:NamedThing	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.	mondoexuq1wtf	combined oxidative phosphorylation deficiency caused by mutation in MTO1|COXPD10|combined oxidative phosphorylation deficiency type 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|MTO1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation defect type 10|combined oxidative phosphorylation deficiency 10											Orphanet:314637|UMLS:C3553529|OMIM:614702|ICD10:I42.2|DOID:0111480																		owl:Class
MONDO:0011289	biolink:NamedThing	apraxia of eyelid opening		mondoexuq1wtf	apraxia of eyelid opening											OMIM:603119																		owl:Class
MONDO:0010304	biolink:NamedThing	Graves disease, susceptibility to, X-linked 1		mondoexuq1wtf	Grdx1|Graves disease, susceptibility to, X-linked 2|Graves disease, susceptibility to, X-linked type 1|Graves disease, susceptibility to, X-linked 1											OMIM:300351																		owl:Class
MONDO:0001453	biolink:NamedThing	senile reticular retinal degeneration		mondoexuq1wtf	Senile reticular degeneration of retina											DOID:12163|SCTID:54184008|UMLS:C0154857|ICD9:362.64																		owl:Class
MONDO:0003792	biolink:NamedThing	ovarian carcinosarcoma	A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.	mondoexuq1wtf	ovarian malignant mixed Mullerian tumor|malignant mixed mesodermal Müllerian tumor of the ovary|ovarian carcinosarcoma|MMMT of the ovary|malignant mixed mesodermal Mullerian tumor of ovary|ovarian malignant mixed mesodermal (Müllerian) tumor|ovarian malignant mixed mesodermal Müllerian tumor|ovarian carcinosarcoma/malignant mixed mesodermal tumor|carcinosarcoma of ovary|malignant mixed mesodermal Mullerian neoplasm of the ovary|carcinosarcoma of the ovary|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian MMMT|malignant mixed mesodermal Mullerian tumor of the ovary|malignant mixed mesodermal Müllerian tumor of ovary|ovarian malignant mesodermal (Mullerian) mixed tumor|ovarian malignant mixed mesodermal Müllerian neoplasm|malignant mixed Müllerian tumor of the ovary|ovarian malignant mixed epithelial mesenchymal tumor|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mesodermal (Müllerian) mixed tumor|ovary carcinosarcoma|malignant mixed mesodermal Müllerian neoplasm of ovary|ovarian malignant mixed Müllerian tumor|ovarian malignant mixed Mullerian neoplasm|ovarian malignant mesodermal (mullerian) mixed tumor|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mixed mesodermal Mullerian neoplasm|ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mixed Müllerian neoplasm										MONDO:0016247	NCIT:C9192|SCTID:702368000|UMLS:C0392998|ICD10:C56|Orphanet:213512|DOID:6170|EFO:1000412|GARD:0007296|ONCOTREE:OCS																		owl:Class
MONDO:0015055	biolink:NamedThing	acquired angioedema type 2	Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	AAE II|acquired angioneurotic edema type 2|AAE 2											UMLS:CN197347|Orphanet:100055|ICD10:T78.3																		owl:Class
MONDO:0017489	biolink:NamedThing	ulnar hemimelia, unilateral		mondoexuq1wtf	ulnar longitudinal meromelia, unilateral											Orphanet:295075|ICD10:Q71.5																		owl:Class
MONDO:0017346	biolink:NamedThing	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.	mondoexuq1wtf	EBV-Positive diffuse large B-cell lymphoma, NOS|age-related EBV Positive B-cell lymphoproliferative disorder|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly|EBV-positive DLBCL of the elderly|EBV Positive diffuse large B-cell lymphoma of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder											SCTID:716788007|NCIT:C80281|ICDO:9680/3|ICD10:C83.3|UMLS:C2700007|Orphanet:289661																		owl:Class
MONDO:0017246	biolink:NamedThing	extralobar congenital pulmonary sequestration		mondoexuq1wtf	extralobar congenital bronchopulmonary sequestration|congenital extrapulmonary sequestration											ICD10:Q33.2|Orphanet:280811																		owl:Class
MONDO:0020555	biolink:NamedThing	pleuropulmonary blastoma type 1	A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.	mondoexuq1wtf	type I pleuropulmonary blastoma											ICD10:C34.1|SCTID:707671008|ICD10:C34.8|ICD9:162.9|Orphanet:99933|NCIT:C45626|ICD10:C34.3|ICD10:C34.9|UMLS:CN207457|ICD10:C34.2																		owl:Class
MONDO:0012903	biolink:NamedThing	autosomal recessive nonsyndromic deafness 45	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 45|autosomal recessive deafness 45|deafness, autosomal recessive 45|DFNB45											OMIM:612433|ICD10:H90.3|DOID:0110502																		owl:Class
MONDO:0100152	biolink:NamedThing	DKC1-related disorder	Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0018528	biolink:NamedThing	congenital myopathy with myasthenic-like onset	Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.	mondoexuq1wtf												ICD10:G71.2|Orphanet:424107|SCTID:763315005																		owl:Class
MONDO:0013466	biolink:NamedThing	orofacial cleft 13		mondoexuq1wtf	OFC13|orofacial cleft 13											DOID:0080406|OMIM:613857|UMLS:C3151222																		owl:Class
MONDO:0020762	biolink:NamedThing	diencephalic-mesencephalic junction dysplasia syndrome 2		mondoexuq1wtf	DMJDS2|spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia											OMIM:618646																		owl:Class
MONDO:0044885	biolink:NamedThing	tonsillar lipoma	A benign adipose tissue neoplasm of the tonsils.	mondoexuq1wtf	lipoma of the tonsil|lipoma of tonsil|tonsil lipoma|tonsillar lipoma											UMLS:C1336764|NCIT:C5989																		owl:Class
MONDO:0009438	biolink:NamedThing	hypouricemia, hypercalcinuria, and decreased bone density		mondoexuq1wtf	hypouricemia, hypercalcinuria, and decreased bone density											UMLS:C1855793|OMIM:242050|MESH:C565475																		owl:Class
MONDO:0014010	biolink:NamedThing	autosomal recessive congenital ichthyosis 9	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.	mondoexuq1wtf	ARCI9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive 9|ichthyosis, congenital, autosomal recessive type 9											DOID:0060718|UMLS:C3554349|OMIM:615023|ICD10:Q80.2																		owl:Class
MONDO:0012049	biolink:NamedThing	orofaciodigital syndrome VII		mondoexuq1wtf	orofaciodigital syndrome type 7|orofaciodigital syndrome type VII|OFD7|Ofds 7|oral-Facial-digital syndrome, type 7|orofaciodigital syndrome VII|orofaciodigital syndrome 7|Whelan syndrome											Orphanet:90649|OMIM:608518|UMLS:CN206429|MESH:C563104|UMLS:C0796100|DOID:0060377																		owl:Class
MONDO:0060549	biolink:NamedThing	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		mondoexuq1wtf	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay|CAKUTHED											OMIM:617641|UMLS:C4539968																		owl:Class
MONDO:0009488	biolink:NamedThing	keratoconus posticus circumscriptus		mondoexuq1wtf	Kpc with associated malformations|keratoconus posticus circumscriptus|KPC|keratoconus posticus CIRCUMSCRIPTUS											GARD:0003091|OMIM:244600|UMLS:C1855645														https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus				owl:Class
MONDO:0024344	biolink:NamedThing	pityriasis folliculorum		mondoexuq1wtf	pityriasis folliculorum											ICD9:696.5|UMLS:C0406312|SCTID:200993008																		owl:Class
MONDO:0011780	biolink:NamedThing	specific language impairment 3		mondoexuq1wtf	specific language impairment 3|specific language impairment quantitative trait locus on chromosome 13|SLI3											OMIM:607134|UMLS:C1846719																		owl:Class
MONDO:0054866	biolink:NamedThing	sudden arrhythmia death syndrome		mondoexuq1wtf	SADS|sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome											UMLS:C2721586|GARD:0009434|SCTID:735686002																		owl:Class
MONDO:0007264	biolink:NamedThing	sudden cardiac arrest	An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.	mondoexuq1wtf	disorder of cardiac conduction|cardiac conduction defect|sudden cardiac death|familial sudden death|heart conduction disorder|conduction disorder|cardiac conduction Disorder					Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert.						NCIT:C78245|SCTID:95281009|EFO:0004278|OMIM:115080																		owl:Class
MONDO:0009407	biolink:NamedThing	hypertrophic neuropathy and cataract		mondoexuq1wtf	hypertrophic neuropathy and cataract											UMLS:C1855885|OMIM:239900|MESH:C565490																		owl:Class
MONDO:0011061	biolink:NamedThing	chorea, remitting, with nystagmus and cataract		mondoexuq1wtf	chorea, remitting with nystagmus and cataracts|familial remitting chorea, nystagmus and cataracts|chorea, remitting, with nystagmus and cataract											OMIM:601372|GARD:0009606|UMLS:C1832422|MESH:C535355																		owl:Class
MONDO:0015010	biolink:NamedThing	atypical glycine encephalopathy	Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.	mondoexuq1wtf	atypical non-ketotic hyperglycinemia|atypical NKA|GLYCINE encephalopathy with normal serum GLYCINE|Glycine encephalopathy with normal serum Glycine											Orphanet:289863|UMLS:C4310943|OMIM:617301|ICD10:E72.5																		owl:Class
MONDO:0007195	biolink:NamedThing	bifid nose, autosomal dominant		mondoexuq1wtf	bifid nose, autosomal dominant											UMLS:C2751431|OMIM:109740																		owl:Class
MONDO:0003938	biolink:NamedThing	bladder colonic type adenocarcinoma		mondoexuq1wtf	bladder colonic type adenocarcinoma|bladder enteric type adenocarcinoma											UMLS:C1511188|NCIT:C39835|DOID:6594																		owl:Class
MONDO:0022862	biolink:NamedThing	cormier rustin munnich syndrome		mondoexuq1wtf												GARD:0001523														https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome				owl:Class
MONDO:0032789	biolink:NamedThing	intellectual developmental disorder, autosomal recessive 71		mondoexuq1wtf	MRT71|Mental Retardation, Autosomal Recessive 71|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71											OMIM:618504																		owl:Class
MONDO:0000930	biolink:NamedThing	nodular malignant melanoma	An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.	mondoexuq1wtf	nodular malignant melanoma of the skin|nodular malignant skin melanoma|nodular malignant melanoma of skin|nodular cutaneous (skin) melanoma|nodular melanoma|nodular melanoma (morphologic abnormality)											ICDO:8721/3|EFO:0008515|UMLS:C0334424|GARD:0009961|NCIT:C4225|DOID:10047|SCTID:254731001																		owl:Class
MONDO:0004453	biolink:NamedThing	testicular yolk sac tumor, myxomatous pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.	mondoexuq1wtf	testicular yolk sac tumor, myxomatous pattern|myxomatous pattern testicular yolk sac tumor											DOID:8081|UMLS:C1515309|NCIT:C39929																		owl:Class
MONDO:0018382	biolink:NamedThing	epiphysiolysis of the hip	Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).	mondoexuq1wtf	femoral head epiphysiolysis|slipped capital femoral epiphysis|slipped upper femoral epiphysis|SCFE|SufE|epiphysiolysis of the upper femur											SCTID:26460006|EFO:1001317|ICD10:M93.9|Orphanet:399329																		owl:Class
MONDO:0019953	biolink:NamedThing	mega-cisterna magna		mondoexuq1wtf												ICD10:Q07.8|Orphanet:97252																		owl:Class
MONDO:0013029	biolink:NamedThing	cerebellar ataxia type 9		mondoexuq1wtf	cerebellar ataxia type 9|SCA9|spinocerebellar ataxia type 9|spinocerebellar ataxia 9											OMIM:612876|DOID:0111747|UMLS:C3887996|GARD:0010481																		owl:Class
MONDO:0032647	biolink:NamedThing	global developmental delay, lung cysts, overgrowth, and wilms tumor		mondoexuq1wtf	GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR|Glow Syndrome|GLOW											OMIM:618272																		owl:Class
MONDO:0054731	biolink:NamedThing	spermatogenic failure 27		mondoexuq1wtf	spermatogenic failure 27|SPGF27											OMIM:617965																		owl:Class
MONDO:0004354	biolink:NamedThing	neonatal leukemia	Leukemia that occurs during the neonatal period.	mondoexuq1wtf	neonatal leukemia											DOID:7756|UMLS:C0235813|NCIT:C3845																		owl:Class
MONDO:0005200	biolink:NamedThing	viral dilated cardiomyopathy	An dilated cardiomyopathy caused by infection with Viruses.	mondoexuq1wtf	Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy											SCTID:30496006|UMLS:C0264797|Wikipedia:Viral_cardiomyopathy|EFO:0002629																		owl:Class
MONDO:0018145	biolink:NamedThing	congenital retinal arteriovenous communication		mondoexuq1wtf	congenital arteriovenous anastomoses of the retina|congenital arteriovenous communication of the retina|congenital retinal arteriovenous anastomoses											Orphanet:353334|ICD10:Q14.8																		owl:Class
MONDO:0012723	biolink:NamedThing	Leber congenital amaurosis 10	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.	mondoexuq1wtf	amaurosis congenita of Leber, type 10|LCA10|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis type 10|CEP290 Leber congenital amaurosis|Leber congenital amaurosis 10											MESH:C565720|DOID:0110291|OMIM:611755|ICD10:H35.5|GARD:0010487														https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10				owl:Class
MONDO:0013384	biolink:NamedThing	Hirschsprung disease, susceptibility to, 4	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.	mondoexuq1wtf	HSCR4|EDN3 Hirschsprung disease|susceptibility to Hirschsprung disease 4|Hirschsprung disease, susceptibility to, type 4|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, 4											OMIM:613712																		owl:Class
MONDO:0017399	biolink:NamedThing	frontotemporal dementia, right temporal atrophy variant	Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.	mondoexuq1wtf	rvFTD|RTLA											SCTID:716667005|ICD10:G31.0|UMLS:CN203142|Orphanet:293848																		owl:Class
MONDO:0010552	biolink:NamedThing	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita		mondoexuq1wtf	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita											MESH:C538077|UMLS:C1844864|OMIM:302803																		owl:Class
MONDO:0013364	biolink:NamedThing	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.	mondoexuq1wtf	RSTS2|Rubinstein-Taybi syndrome caused by mutation in EP300|Rubinstein-Taybi syndrome 2|EP300 Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome type 2											ICD10:Q87.2|UMLS:C3150941|OMIM:613684|NCIT:C153291|Orphanet:353284																		owl:Class
MONDO:0013265	biolink:NamedThing	autism, susceptibility to, 17		mondoexuq1wtf	susceptibility to autism 17|autism, susceptibility to, type 17|AUTS17|autism, susceptibility to, 17											OMIM:613436																		owl:Class
MONDO:0002552	biolink:NamedThing	vascular myelopathy		mondoexuq1wtf	vascular myelopathies											ICD9:336.1|UMLS:C0154685|COHD:136960|DOID:320|ICD10:G95.1|SCTID:29774004																		owl:Class
MONDO:0010458	biolink:NamedThing	hypospadias 4, X-linked		mondoexuq1wtf	HYSP4|hypospadias 4, X-linked, susceptibility to											OMIM:300856																		owl:Class
MONDO:0019731	biolink:NamedThing	AApoAI amyloidosis		mondoexuq1wtf	familial renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant|hereditary amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis|hereditary renal amyloidosis due to apolipoprotein A-I variant											Orphanet:93560|UMLS:CN206638|ICD10:E85.0																		owl:Class
MONDO:0002831	biolink:NamedThing	non-keratinizing sinonasal squamous cell carcinoma	A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.	mondoexuq1wtf	cylindrical cell carcinoma|Sinonasal transitional cell carcinoma|Sinonasal Schneiderian carcinoma|non-keratinizing sinonasal squamous cell carcinoma|Schneiderian carcinoma|Sinonasal cylindrical cell carcinoma|Ringertz carcinoma|sinonasal squamous cell carcinoma					Editor note: TODO check ONCOTREE mapping						UMLS:C0334270|NCIT:C54287|DOID:4003|ONCOTREE:SNSC|ICDO:8121/3																		owl:Class
MONDO:0005464	biolink:NamedThing	rhegmatogenous retinal detachment	Retinal detachment secondary to retinal tear or break.	mondoexuq1wtf												SCTID:19620000|EFO:0005240|NCIT:C118755|UMLS:C0271055																		owl:Class
MONDO:0100025	biolink:NamedThing	epilepsy of infancy with migrating focal seizures	This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.	mondoexuq1wtf					2018-06-22 23:54:03+00:00							UMLS:C4518639|SCTID:733195008																		owl:Class
MONDO:0015712	biolink:NamedThing	non-distal trisomy 10q	Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.	mondoexuq1wtf	non-telomeric trisomy 10q|non-distal trisomy type 10q|non-distal duplication 10q											ICD10:Q92.3|Orphanet:1695																		owl:Class
MONDO:0018683	biolink:NamedThing	acquired ichthyosis	A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso.	mondoexuq1wtf	ichthyosis, acquired|fish scale disease, acquired|acquired ichthyosis|acquired ichthyosis (disease)|ichthyosis acquisita											Orphanet:454|NCIT:C112831|GARD:0000476|ICD10:L85.0|SCTID:8691004|MESH:C538175														https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired				owl:Class
MONDO:0044351	biolink:NamedThing	Schistosoma intercalatum infectious disease	An disease or disorder caused by infection with Schistosoma intercalatum.	mondoexuq1wtf	Schistosoma intercalatum caused disease or disorder|Schistosoma intercalatum disease or disorder|infection caused by Schistosoma intercalatum|infection by Schistosoma intercalatum											UMLS:C0276932|SCTID:52179003|NCIT:C35364|ICD9:120.8																		owl:Class
MONDO:0014251	biolink:NamedThing	melioidosis, susceptibility to		mondoexuq1wtf	melioidosis, susceptibility to|melioidosis, resistance to|susceptibility to melioidosis											OMIM:615557																		owl:Class
MONDO:0008563	biolink:NamedThing	thumb stiffness-brachydactyly-intellectual disability syndrome	Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	mondoexuq1wtf	thumb stiff brachydactyly intellectual disability|thumbs, STIFF, with brachydactyly type A1 and developmental delay|thumb stiff brachydactyly mental retardation|Thumb ankylosis with mental retardation|Piussan-Lenaerts-Mathieu syndrome|Thumb ankylosis with intellectual disability											Orphanet:1078|OMIM:188201|GARD:0004375|ICD10:Q87.2|GARD:0005200																		owl:Class
MONDO:0013151	biolink:NamedThing	choroidal dystrophy, central areolar, 3		mondoexuq1wtf	CACD3|choroidal dystrophy, central areolar, 3|choroidal dystrophy, central areolar, with or without drusen											OMIM:613144|UMLS:C2751055|MESH:C567729																		owl:Class
MONDO:0003557	biolink:NamedThing	optic nerve sheath meningioma	A meningioma that affects the sheath of the optic nerve.	mondoexuq1wtf	optic nerve sheath meningioma|meningioma of optic nerve sheath|meningioma of the optic nerve sheath					Editor note: TODO axiomatize						NCIT:C4538|UMLS:C0346328|DOID:5632|ICD9:237.9|SCTID:254978007																		owl:Class
CL:0002028	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012298	biolink:NamedThing	omphalocele, diaphragmatic hernia, and radial ray defects		mondoexuq1wtf	Gershoni-Baruch syndrome|omphalocele, diaphragmatic hernia, and radial ray defects											OMIM:609545|GARD:0010354|UMLS:C1836007|MESH:C563701																		owl:Class
MONDO:0009594	biolink:NamedThing	metaphyseal chondrodysplasia, Kaitila type	Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	metaphyseal chondrodysplasia, Kaitila type											MESH:C565400|UMLS:C1855217|Orphanet:166038|OMIM:250230																		owl:Class
MONDO:0009878	biolink:NamedThing	pituitary hormone deficiency, combined, 2	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.	mondoexuq1wtf	Hanhart dwarfism|pituitary hormone deficiency, combined, 2|CPHD2|panhypopituitarism|pituitary dwarfism 3|PROP1 combined pituitary hormone deficiencies, genetic form|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|ateliotic dwarfism with hypogonadism|pituitary hormone deficiency, combined, type 2											OMIM:262600|UMLS:C0878683																		owl:Class
MONDO:0004287	biolink:NamedThing	pancreatic foamy gland adenocarcinoma	A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.	mondoexuq1wtf	pancreatic foamy gland adenocarcinoma											NCIT:C37256|UMLS:C1335303|DOID:7577																		owl:Class
MONDO:0013117	biolink:NamedThing	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.	mondoexuq1wtf	progressive external ophthalmoplegia, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|PEOA5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5											UMLS:C2751319|OMIM:613077|DOID:0111518|MESH:C567768																		owl:Class
MONDO:0012609	biolink:NamedThing	Alzheimer disease 12	An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.	mondoexuq1wtf	Alzheimer disease 12|Ad12|Alzheimer disease, familial, 12|Alzheimer's disease 12|AD12|Alzheimer's disease type 12|Alzheimer disease familial 12|Alzheimer disease type 12											ICD10:G30|OMIM:611073|DOID:0110045|MESH:C567022|UMLS:C1970209																		owl:Class
MONDO:0012672	biolink:NamedThing	cholelithiasis	The presence of calculi in the gallbladder.	mondoexuq1wtf	gallstones|gallbladder disease 4|gallbladder disease type 4|GBD4											MESH:D002769|NCIT:C122822|EFO:0004799|OMIM:611465|SCTID:266474003|DOID:10211|ICD9:574.5|ICD9:574.20|UMLS:C0008350|ICD9:574																		owl:Class
MONDO:0019986	biolink:NamedThing	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy		mondoexuq1wtf												UMLS:CN206920|Orphanet:97555|ICD10:N04.8																		owl:Class
MONDO:0013309	biolink:NamedThing	chromosome 2p12-p11.2 deletion syndrome		mondoexuq1wtf	chromosome 2p12-p11.2 deletion syndrome											DOID:0060414|OMIM:613564|UMLS:C3150804																		owl:Class
MONDO:0020421	biolink:NamedThing	coronary artery intramyocardial course		mondoexuq1wtf												ICD10:Q24.5|Orphanet:99085																		owl:Class
MONDO:0017382	biolink:NamedThing	familial clubfoot due to 5q31 microdeletion		mondoexuq1wtf	hereditary clubfoot due to 5q31 microdeletion											ICD10:Q66.8|UMLS:CN203109|Orphanet:293144																		owl:Class
MONDO:0000672	biolink:NamedThing	form agnosia	An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.	mondoexuq1wtf												DOID:0060142																		owl:Class
MONDO:0023235	biolink:NamedThing	giant congenital nevus	A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.	mondoexuq1wtf	giant congenital melanocytic nevus|giant congenital Nevus|GPHN|bathing trunk nevus|congenital giant pigmented nevus|giant pigmented Nevus of the skin|bathing trunk Nevus|congenital hairy nevus|giant pigmented nevus|large congenital melanocytic nevus|giant pigmented hairy nevus|giant hairy nevus|giant pigmented Nevus of skin											ICDO:8761/1|SCTID:254815002|GARD:0002469|NCIT:C4234														https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus				owl:Class
MONDO:0001350	biolink:NamedThing	parametrium malignant neoplasm	A malignant neoplasm involving the parametrium.	mondoexuq1wtf	cancer of parametrium|malignant parametrium neoplasm|parametrium cancer|malignant neoplasm of parametrium											COHD:40491000|DOID:11746|UMLS:C0153581|SCTID:448674007|ICD10:C57.3|ICD9:183.4																		owl:Class
MONDO:0010028	biolink:NamedThing	sialuria	Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.	mondoexuq1wtf	sialuria, French type|sialuria											MedDRA:10067529|ICD9:796.4|DOID:3659|ICD10:E77.8|OMIM:269921|GARD:0004865|Orphanet:3166|SCTID:238051008																		owl:Class
MONDO:0015422	biolink:NamedThing	orofaciodigital syndrome type 13	Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.	mondoexuq1wtf	oral-facial-digital syndrome XIII|orofaciodigital syndrome 13|OFD syndrome 13|Degner syndrome|orofaciodigital syndrome XIII|OFD13|oral-facial-digital syndrome type 13|OFDS 13|oral-facial-digital syndrome 13|oral facial digital syndrome type 13|oral facial digital syndrome 13											GARD:0010694|SCTID:763835004|ICD10:Q87.0|UMLS:C2932680|MESH:C548035|Orphanet:141330																		owl:Class
MONDO:0030895	biolink:NamedThing	nephrotic syndrome, type 22		mondoexuq1wtf	nephrotic syndrome, type 22|NPHS22											OMIM:619155																		owl:Class
MONDO:0020069	biolink:NamedThing	chronic encephalitis	Chronic form of encephalitis.	mondoexuq1wtf	encephalitis, chronic											UMLS:C0006109|Orphanet:98255																		owl:Class
MONDO:0024555	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 1		mondoexuq1wtf	MLC1|megalencephalic leukoencephalopathy with subcortical cysts 1|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|VL|Lvm|Van Der Knaap disease|leukoencephalopathy with swelling and cysts											DOID:0080316|OMIM:604004																		owl:Class
MONDO:0018546	biolink:NamedThing	serotonin syndrome	Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).	mondoexuq1wtf	serotonin storm|serotonin toxidrome|serotonergic syndrome|serotonin toxicity											MESH:D020230|ICD9:333.99|EFO:1001842|MedDRA:10040108|Orphanet:43116|SCTID:371089000																		owl:Class
MONDO:0016653	biolink:NamedThing	2q33.1 microdeletion syndrome	2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	mondoexuq1wtf	Del(2)(q33.1)|monosomy 2q33.1											Orphanet:251028|ICD10:Q93.5|UMLS:CN201882|SCTID:763062006																		owl:Class
MONDO:0030985	biolink:NamedThing	premature ovarian failure 19		mondoexuq1wtf	premature ovarian failure 19|POF19											OMIM:619245																		owl:Class
MONDO:0010623	biolink:NamedThing	ichthyosis and male hypogonadism		mondoexuq1wtf	Ruds|rud syndrome|Ichthyosis-male hypogonadism syndrome|ichthyosis and male hypogonadism											Orphanet:431|UMLS:C1839989|OMIM:308200|GARD:0009612|SCTID:2355008|ICD9:759.89																		owl:Class
MONDO:0007663	biolink:NamedThing	glaucoma with elevated episcleral venous pressure		mondoexuq1wtf	glaucoma with elevated episcleral venous pressure											OMIM:137700|UMLS:C1842030|MESH:C564235																		owl:Class
MONDO:0010823	biolink:NamedThing	rhizomelic chondrodysplasia punctata type 3	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.	mondoexuq1wtf	rhizomelic chondrodysplasia punctata type 3|AGPS rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata, type 3|RCDP3|Rcdp3|alkyldihydroxyacetonephosphate synthase deficiency|Alkyglycerone-phosphate synthase deficiency|alkylglycerone-phosphate synthase deficiency|Agps deficiency|rhizomelic chondrodysplasia punctata caused by mutation in AGPS											MESH:C537608|DOID:0110853|GARD:0009682|OMIM:600121|UMLS:C1838612|ICD10:Q77.3|Orphanet:309803														https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3|https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0100385	biolink:NamedThing	acute myeloid leukemia, t(11;19)(q23.3;p13.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)	mondoexuq1wtf	AML, t(11;19)(q23;p13.3)|AML, t(11;19)(q23.3;p13.3)																													owl:Class
MONDO:0004039	biolink:NamedThing	papillary extrahepatic bile duct adenocarcinoma		mondoexuq1wtf												DOID:6931																		owl:Class
MONDO:0018688	biolink:NamedThing	anti-p200 pemphigoid		mondoexuq1wtf												ICD10:L12.8|UMLS:CN237754|Orphanet:454710|EFO:0008597																		owl:Class
MONDO:0013261	biolink:NamedThing	dilated cardiomyopathy 1R	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	mondoexuq1wtf	CMD1R|ACTC1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in ACTC1|dilated cardiomyopathy type 1R|cardiomyopathy, dilated, 1R|cardiomyopathy, dilated, type 1R|left ventricular noncompaction 4											DOID:0110456|ICD10:I42.0|OMIM:613424																		owl:Class
MONDO:0016529	biolink:NamedThing	duplication of urethra	Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.	mondoexuq1wtf	urethral duplication											ICD9:753.8|ICD10:Q64.7|Orphanet:237|GARD:0001975|SCTID:69015003														https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra				owl:Class
MONDO:0010373	biolink:NamedThing	premature ovarian failure 2B	Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.	mondoexuq1wtf	POF2B|premature ovarian failure 2B|primary ovarian failure caused by mutation in POF1B|premature ovarian failure type 2B|POF1B primary ovarian failure											OMIM:300604|MESH:C564476|UMLS:C1845105																		owl:Class
MONDO:0054748	biolink:NamedThing	Fanconi anemia, complementation group S		mondoexuq1wtf	FANCS|Fanconi anemia, complementation GROUP S											OMIM:617883																		owl:Class
MONDO:0015716	biolink:NamedThing	moderately severe hemophilia B	Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	moderately severe factor IX deficiency|moderately severe hemophilia type B											UMLS:CN200228|ICD10:D67|Orphanet:169796																		owl:Class
MONDO:0007333	biolink:NamedThing	van der Woude syndrome 1	Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.	mondoexuq1wtf	Van Der Woude syndrome type 1|van der Woude syndrome 1|VAN DER Woude syndrome 1|van der Woude syndrome caused by mutation in IRF6|VWS1|Vdws|lip-pit syndrome|cleft lip and/or palate with mucous cysts of Lower lip|IRF6 van der Woude syndrome											OMIM:119300																		owl:Class
MONDO:0013248	biolink:NamedThing	Fanconi anemia complementation group O	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.	mondoexuq1wtf	Fanconi anemia complementation group type O|RAD51C Fanconi anemia|FANCO|Fanconi anemia caused by mutation in Rad51C|Fanconi anemia caused by mutation in RAD51C|Fanconi Anemia, complementation group type O|Fanconi anemia, complementation group O|Rad51C Fanconi anemia											UMLS:C3150653|OMIM:613390|DOID:0111096																		owl:Class
MONDO:0054742	biolink:NamedThing	combined oxidative phosphorylation deficiency 35		mondoexuq1wtf	combined oxidative phosphorylation deficiency 35|COXPD35											UMLS:CN807948|OMIM:617873|DOID:0111464																		owl:Class
MONDO:0004290	biolink:NamedThing	subglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.	mondoexuq1wtf	subglottis verrucous carcinoma|verrucous carcinoma of subglottis|subglottic verrucous carcinoma|verrucous carcinoma of the subglottis											NCIT:C8190|UMLS:C0280330|DOID:7584																		owl:Class
MONDO:0008775	biolink:NamedThing	Amobarbital, deficient N-hydroxylation of		mondoexuq1wtf	Amobarbital, deficient N-hydroxylation of											OMIM:204800|MESH:C565959|UMLS:C1859816																		owl:Class
MONDO:0037105	biolink:NamedThing	lung germ cell tumor	A germ cell tumor that arises from the lung.	mondoexuq1wtf	lung germ cell neoplasm|lung germ cell tumor											NCIT:C45636|UMLS:C1708771																		owl:Class
MONDO:0013010	biolink:NamedThing	autosomal recessive nonsyndromic deafness 71	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.	mondoexuq1wtf	autosomal recessive deafness 71|deafness, autosomal recessive 71|DFNB71|autosomal recessive nonsyndromic deafness type 71											ICD10:H90.3|DOID:0110522|MESH:C567562|UMLS:C2748554|OMIM:612789																		owl:Class
MONDO:0014857	biolink:NamedThing	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		mondoexuq1wtf	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|rere-related neurodevelopmental syndrome|NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH											OMIM:616975|MONDO:0044630|Orphanet:494344|UMLS:C4310772																		owl:Class
MONDO:0009450	biolink:NamedThing	ciliary dyskinesia with excessively long cilia		mondoexuq1wtf	immotile cilia syndrome due to excessively long cilia|ciliary dyskinesia with excessively long cilia											SCTID:233665006|MESH:C536287|ICD9:759.89|GARD:0002982|OMIM:242680														https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia				owl:Class
MONDO:0009791	biolink:NamedThing	oral sensibility, disturbance of		mondoexuq1wtf	disturbance of oral sensitivity|oral sensibility, disturbance of|impairment of oral perception											GARD:0009476|OMIM:258800														https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception				owl:Class
MONDO:0013906	biolink:NamedThing	amelogenesis imperfecta hypomaturation type 2A4	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.	mondoexuq1wtf	amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta, hypomaturation type, IIA4|AI2A4|amelogenesis imperfecta type IIA4|amelogenesis imperfecta caused by mutation in ODAPH|ODAPH amelogenesis imperfecta											DOID:0110062|UMLS:C3553830|ICD10:K00.5|OMIM:614832																		owl:Class
MONDO:0002680	biolink:NamedThing	chronic wasting disease	A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).	mondoexuq1wtf												DOID:3530|UMLS:C1135993|MESH:D034081																		owl:Class
MONDO:0001352	biolink:NamedThing	round ligament malignant neoplasm	A malignant neoplasm involving the round ligament of uterus.	mondoexuq1wtf	cancer of round ligament of uterus|round ligament of uterus cancer|malignant neoplasm of round ligament|malignant neoplasm of round ligament of uterus|malignant round ligament of uterus neoplasm											UMLS:C0346867|ICD9:183.5|DOID:11748|SCTID:188204000|ICD10:C57.2																		owl:Class
MONDO:0019640	biolink:NamedThing	posterior urethral valve	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.	mondoexuq1wtf	PUV|Posterior urethral valves|congenital posterior urethral valves											ICD9:753.8|UMLS:CN227669|MedDRA:10036369|NCIT:C99021|UMLS:C0238506|Orphanet:93110|GARD:0007439|SCTID:253900005|ICD10:Q64.2																		owl:Class
MONDO:0011699	biolink:NamedThing	inflammatory bowel disease 8	An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.	mondoexuq1wtf	inflammatory bowel disease 8|IBD8|inflammatory bowel disease type 8											DOID:0110904|OMIM:606668|MESH:C564682|UMLS:C1847719																		owl:Class
MONDO:0002988	biolink:NamedThing	cervix melanoma	An aggressive malignant tumor of melanocytic origin that arises from the cervix.	mondoexuq1wtf	primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix|cervical melanoma|melanoma of the cervix											NCIT:C40239|GARD:0009664|UMLS:C0877611|DOID:4413																		owl:Class
MONDO:0002791	biolink:NamedThing	large cell medulloblastoma	A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.	mondoexuq1wtf	large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma											UMLS:C1266180|NCIT:C6904|EFO:0008508|ICDO:9474/3|DOID:3857																		owl:Class
MONDO:0011709	biolink:NamedThing	split hand-foot malformation 5	Split-hand/foot malformation mapped to chromosome 2q31.	mondoexuq1wtf	split hand-foot malformation type 5|SHFM5|split-hand/foot malformation 5|split-hand/foot malformation type 5											NCIT:C75002|UMLS:C1847622|MESH:C564674|DOID:0090022|OMIM:606708|ICD10:Q71.6																		owl:Class
MONDO:0012390	biolink:NamedThing	arthrogryposis multiplex with deafness, inguinal hernias, and early death		mondoexuq1wtf	arthrogryposis multiplex with deafness, inguinal hernias, and early death											OMIM:610001|MESH:C535381|UMLS:C1864939|GARD:0009946														https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death				owl:Class
MONDO:0017864	biolink:NamedThing	congenital pulmonary veins atresia or stenosis	Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.	mondoexuq1wtf	pulmonary veins stenosis|pulmonary vein stenosis											SCTID:234062003|GARD:0004598|ICD10:Q26.3|Orphanet:3188|UMLS:C0340756																		owl:Class
MONDO:0020446	biolink:NamedThing	coronary sinus stenosis		mondoexuq1wtf												ICD10:Q21.1|Orphanet:99117																		owl:Class
MONDO:0014245	biolink:NamedThing	Diamond-Blackfan anemia 12	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.	mondoexuq1wtf	Diamond-Blackfan anemia caused by mutation in RPL15|Diamond-Blackfan Anemia type 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia 12|DBA12											OMIM:615550|UMLS:C3809888																		owl:Class
MONDO:0032901	biolink:NamedThing	Catifa syndrome		mondoexuq1wtf	CATIFA SYNDROME|CATIFA|Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder											OMIM:618761																		owl:Class
MONDO:0033365	biolink:NamedThing	developmental and epileptic encephalopathy, 56		mondoexuq1wtf	infantile epileptic encephalopathy 56|DEE56|epileptic encephalopathy, early infantile, 56|EIEE56											DOID:0080282|OMIM:617665|UMLS:CN477042																		owl:Class
MONDO:0020980	biolink:NamedThing	hair nevus	A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.	mondoexuq1wtf	nevoid hypertrichosis|hair nevus|hairy nevus											NCIT:C3074|SCTID:201161009|UMLS:C0018508																		owl:Class
MONDO:0020979	biolink:NamedThing	pilosebaceous hamartoma	A hamartoma characterized by localized pilosebaceous apparatus malformation.	mondoexuq1wtf	pilosebaceous hamartoma											NCIT:C5565																		owl:Class
MONDO:0009772	biolink:NamedThing	oculorenocerebellar syndrome		mondoexuq1wtf	absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|ORC syndrome|oculorenocerebellar syndrome|absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy											GARD:0004050|UMLS:C1850331|Orphanet:2715|MESH:C537739|OMIM:257970														https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome				owl:Class
MONDO:0011828	biolink:NamedThing	intellectual disability, autosomal recessive 2	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.	mondoexuq1wtf	mental retardation, autosomal recessive type 2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|intellectual disability, autosomal recessive type 2|CRBN autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 2|mental retardation, autosomal recessive 2A|MRT2|intellectual disability, autosomal recessive 2A|intellectual disability, autosomal recessive 2											OMIM:607417|UMLS:C1843942|MESH:C564404																		owl:Class
MONDO:0023017	biolink:NamedThing	duplication of the thumb unilateral biphalangeal		mondoexuq1wtf												GARD:0001977														https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal				owl:Class
MONDO:0022573	biolink:NamedThing	biliary atresia intrahepatic non syndromic form		mondoexuq1wtf												GARD:0000887														https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form				owl:Class
MONDO:0014765	biolink:NamedThing	woolly hair, autosomal recessive 3	Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.	mondoexuq1wtf	woolly hair, autosomal recessive 3|woolly hair (disease) caused by mutation in KRT25|ARWH3|KRT25 woolly hair (disease)|woolly hair, autosomal recessive type 3|woolly hair, autosomal recessive 3, with hypotrichosis											UMLS:C4225214|OMIM:616760|DOID:0111574																		owl:Class
MONDO:0032873	biolink:NamedThing	retinitis pigmentosa 87 with choroidal involvement		mondoexuq1wtf	RP87|RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT											OMIM:618697																		owl:Class
MONDO:0008505	biolink:NamedThing	surface antigen, glycoprotein 75		mondoexuq1wtf	surface glycoprotein 75|surface antigen, glycoprotein type 75|surface antigen, glycoprotein 75											OMIM:185540																		owl:Class
MONDO:0014074	biolink:NamedThing	Charcot-Marie-Tooth disease dominant intermediate F	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.	mondoexuq1wtf	DI-CMTF|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant intermediate F|Charcot-Marie-Tooth disease dominant intermediate type F|Charcot-Marie-Tooth disease, dominant Intermediate type F|CMTDIF					Not in the OMIM series.						GARD:0009206|UMLS:C3554654|DOID:0110206|ICD10:G60.0|Orphanet:352670|OMIM:615185																		owl:Class
MONDO:0012671	biolink:NamedThing	tremor, hereditary essential, 3		mondoexuq1wtf	tremor, hereditary essential, 3|ETM3											UMLS:C1969617|DOID:0111430|OMIM:611456|MESH:C566949																		owl:Class
MONDO:0012458	biolink:NamedThing	hypertension, essential, susceptibility to, 5		mondoexuq1wtf	hypertension, essential, susceptibility to, 5|Hyt5|hypertension, essential, body Mass-related|hypertension, essential, susceptibility to, type 5											OMIM:610261																		owl:Class
MONDO:0016533	biolink:NamedThing	apolipoprotein A-II amyloidosis		mondoexuq1wtf	hereditary renal amyloidosis due to apolipoprotein A-II variant|AApoAII amyloidosis|familial renal amyloidosis due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial amyloid nephropathy due to apolipoprotein A-II variant											ICD10:E85.0|UMLS:CN201610|Orphanet:238269																		owl:Class
MONDO:0021500	biolink:NamedThing	benign neoplasm of spleen	A benign neoplasm that involves the spleen.	mondoexuq1wtf	benign neoplasm of the spleen|benign splenic neoplasm|spleen benign neoplasm											SCTID:92408009|UMLS:C0686615|ICD9:211.9|NCIT:C4902																		owl:Class
MONDO:0001093	biolink:NamedThing	colonic lymphangioma	A lymphangioma arising from the colon.	mondoexuq1wtf	colon lymphangioma|lymphangioma of the colon|lymphangioma of colon|colonic lymphangioma											DOID:10657|UMLS:C1333094|NCIT:C5500																		owl:Class
MONDO:0012252	biolink:NamedThing	rhabdoid tumor predisposition syndrome 1	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.	mondoexuq1wtf	SMARCB1 familial rhabdoid tumor|RTPS1|malignant rhabdoid tumor, somatic|At/RT|rhabdoid tumor predisposition syndrome 1|familial rhabdoid tumor caused by mutation in SMARCB1|brain tumor, posterior fossa, of infancy, familial|teratoid tumor, atypical|rhabdoid tumor predisposition syndrome type 1											OMIM:609322																		owl:Class
MONDO:0024861	biolink:NamedThing	mixed teratoma and seminoma		mondoexuq1wtf	mixed teratoma and seminoma											NCIT:C9010																		owl:Class
MONDO:0033533	biolink:NamedThing	combined oxidative phosphorylation deficiency 45		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45|COXPD45											OMIM:618951																		owl:Class
MONDO:0019445	biolink:NamedThing	trichofolliculoma	Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.	mondoexuq1wtf												Orphanet:864|ICDO:8101/0|UMLS:C0334262|GARD:0005263|MESH:C536553|NCIT:C4112|SCTID:274899008|MedDRA:10044611														https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma				owl:Class
MONDO:0019318	biolink:NamedThing	inflammatory linear verrucous epidermal nevus		mondoexuq1wtf	ILVEN|linear verrucose epidermal nevus|inflammatory linear verrucous epidermal naevus											Orphanet:79466|UMLS:C0473574|GARD:0005484|ICD10:Q82.5|SCTID:399995006																		owl:Class
MONDO:0014834	biolink:NamedThing	dyskinesia, limb and orofacial, infantile-onset		mondoexuq1wtf	IOLOD|dyskinesia, limb and orofacial, infantile-onset; IOLOD|dyskinesia, limb and orofacial, infantile-onset											OMIM:616921|UMLS:C4310792																		owl:Class
MONDO:0008102	biolink:NamedThing	sick sinus syndrome 2, autosomal dominant	Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.	mondoexuq1wtf	atrial fibrillation with Bradyarrhythmia|sinus node disease, familial, autosomal dominant|sick sinus syndrome caused by mutation in HCN4|Sss, autosomal dominant|sick sinus syndrome 2|SSS2|sick sinus syndrome 2, autosomal dominant|HCN4 sick sinus syndrome|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|sinus bradycardia syndrome, familial, autosomal dominant											MESH:C563513|UMLS:C1834144|OMIM:163800																		owl:Class
MONDO:0012214	biolink:NamedThing	glucocorticoid deficiency 3		mondoexuq1wtf	glucocorticoid deficiency 2, formerly|familial glucocorticoid deficiency 3|glucocorticoid deficiency 3|glucocorticoid deficiency 2|GCCD3											OMIM:609197|UMLS:C1836621																		owl:Class
MONDO:0014267	biolink:NamedThing	severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.	mondoexuq1wtf	IMD15|immunodeficiency type 15|immunodeficiency 15|SCID due to IKK2 deficiency											ICD10:D81.2|Orphanet:397787|UMLS:C3810043|OMIM:615592																		owl:Class
MONDO:0011656	biolink:NamedThing	paget disease of bone 4		mondoexuq1wtf	PDB4|Paget disease of bone 4											MESH:C565240|OMIM:606263|UMLS:C1853473																		owl:Class
MONDO:0041656	biolink:NamedThing	ST-elevation myocardial infarction	A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.	mondoexuq1wtf	acute-ST segment elevation myocardial infarction|ST segment elevation myocardial infarction|STEMI											SCTID:401303003|EFO:0008585																		owl:Class
MONDO:0005751	biolink:NamedThing	epidemic pleurodynia	An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.	mondoexuq1wtf	devil's grip|Bamble disease|epidemic pleurisy|epidemic, myositis|Bornholm disease|epidemic myalgia											DOID:10882|EFO:0007259|UMLS:C0032238|COHD:195464|SCTID:83264000|ICD9:074.1|MESH:D011000|ICD10:B33.0																		owl:Class
MONDO:0008938	biolink:NamedThing	early-onset cerebellar ataxia with retained tendon reflexes	Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.	mondoexuq1wtf	EOCARR|EOCA|cerebellar ataxia, early-onset, with retained tendon reflexes|cerebellar ataxia early onset with retained tendon reflex|Harding ataxia|ataxia, harding type											UMLS:C0393520|GARD:0002600|ICD9:334.3|ICD10:G11.1|Orphanet:1177|SCTID:230228004|MESH:C535633|OMIM:212895																		owl:Class
MONDO:0012256	biolink:NamedThing	hereditary spastic paraplegia 28	Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 28|spastic paraplegia 28, autosomal recessive|hereditary spastic paraplegia type 28|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1|autosomal recessive spastic paraplegia 28|DDHD1 autosomal recessive pure spastic paraplegia|SPG28											OMIM:609340|MESH:C563732|ICD10:G11.4|DOID:0110779|Orphanet:101008|SCTID:763376002|UMLS:C1836295																		owl:Class
MONDO:0004258	biolink:NamedThing	female orgasmic disorder	A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.	mondoexuq1wtf	inhibited female orgasm|female orgasmic disorder											DOID:7518|ICD10:F52.31|NCIT:C34958|SCTID:60103007|ICD9:302.73																		owl:Class
MONDO:0013471	biolink:NamedThing	autosomal recessive nonsyndromic deafness 61	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5|deafness, autosomal recessive type 61|deafness, autosomal recessive 61|autosomal recessive nonsyndromic deafness type 61|SLC26A5 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 61|DFNB61											ICD10:H90.3|DOID:0110513|UMLS:C3151230|OMIM:613865																		owl:Class
MONDO:0033673	biolink:NamedThing	spermatogenic failure 46		mondoexuq1wtf	SPGF46											OMIM:619095																		owl:Class
MONDO:0010798	biolink:NamedThing	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.	mondoexuq1wtf	renal tubulopathy, diabetes mellitus, and cerebellar ataxia|proximal tubulopathy, diabetes mellitus and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA											ICD10:Q87.8|OMIM:560000|UMLS:C3151959|GARD:0004532|Orphanet:3390|MESH:C564014																		owl:Class
MONDO:0004161	biolink:NamedThing	uterine corpus apoplectic leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.	mondoexuq1wtf	uterine corpus hemorrhagic cellular leiomyoma|uterine corpus leiomyoma with apoplectic change											UMLS:C1519852|NCIT:C40165|DOID:7241																		owl:Class
MONDO:0008881	biolink:NamedThing	kyphomelic dysplasia	Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.	mondoexuq1wtf	kyphomelic dysplasia|congenital bowing with short bones|bowing, congenital, with short bones											OMIM:211350|ICD9:733.29|SCTID:254096001|GARD:0010149|UMLS:C0432239|MESH:C538128|Orphanet:1801														https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia				owl:Class
MONDO:0014990	biolink:NamedThing	uncombable hair syndrome 3	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.	mondoexuq1wtf	TCHH uncombable hair syndrome|UHS3|uncombable hair syndrome caused by mutation in TCHH|uncombable hair syndrome 3; UHS3|uncombable hair syndrome 3|uncombable hair syndrome type 3											UMLS:C4310648|OMIM:617252																		owl:Class
MONDO:0014389	biolink:NamedThing	polyglucosan body myopathy 1 with or without immunodeficiency		mondoexuq1wtf	polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy 1 with or without immunodeficiency|PGBM1											UMLS:C4014605|OMIM:615895																		owl:Class
MONDO:0001838	biolink:NamedThing	acute gonococcal prostatitis	Acute form of gonococcal prostatitis.	mondoexuq1wtf	gonococcal prostatitis (acute)|gonococcal prostatitis|gonococcal prostatitis, acute|acute gonococcal prostatitis											UMLS:C0153192|DOID:13943|SCTID:111806005|ICD9:098.12																		owl:Class
MONDO:0020733	biolink:NamedThing	proximal symphalangism 1A		mondoexuq1wtf	Cushing symphalangism|symphalangism, proximal, type 1A|symphalangism, proximal, 1A|Sym1|hereditary absence of the proximal interphalangeal joints|SYM1A											UMLS:C3714899|OMIM:185800																		owl:Class
MONDO:0009704	biolink:NamedThing	carnitine palmitoyl transferase II deficiency, myopathic form	The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.	mondoexuq1wtf	CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|CPTII, adult-onset form|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|CPT 2 deficiency, myopathic|CPTII, myopathic form|Carnitine palmitoyl transferase deficiency type 2, myopathic form|CPT2, myopathic form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|Carnitine palmitoyl transferase II deficiency, adult-onset form|Cpt2 deficiency, late-onset|Carnitine Palmitoyltransferase 2 deficiency, myopathic|CPT2, adult-onset form											MESH:C563461|Orphanet:228302|ICD10:E71.3|UMLS:C1833508|OMIM:255110																		owl:Class
MONDO:0010932	biolink:NamedThing	progressive bifocal chorioretinal atrophy	Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.	mondoexuq1wtf	Crapb|chorioretinal atrophy, progressive bifocal|progressive bifocal chorioretinal atrophy|PBCRA|CRAPB											OMIM:600790|MESH:C535356|SCTID:719266007|Orphanet:75373|UMLS:C1833321|GARD:0010123														https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy				owl:Class
MONDO:0001688	biolink:NamedThing	toxic optic neuropathy		mondoexuq1wtf						Editor note: todo - grouping class						ICD10:H46.3|DOID:13329|UMLS:C0155303|ICD9:377.34|SCTID:26125006|COHD:377570																		owl:Class
MONDO:0010902	biolink:NamedThing	spondyloepiphyseal dysplasia, Reardon type	Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	mondoexuq1wtf	spondyloepiphyseal dysplasia with atlantoaxial instability											SCTID:718764004|OMIM:600561|UMLS:C1833603|ICD10:Q77.7|MESH:C563472|Orphanet:163662																		owl:Class
MONDO:0024480	biolink:NamedThing	dermatosis of eyelid		mondoexuq1wtf	dermatosis of eyelid											UMLS:C1274150|SCTID:402700001																		owl:Class
MONDO:0032858	biolink:NamedThing	developmental and epileptic encephalopathy, 81		mondoexuq1wtf	EIEE81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81|epileptic encephalopathy, early infantile, 81|DEE81											OMIM:618663																		owl:Class
MONDO:0009182	biolink:NamedThing	junctional epidermolysis bullosa Herlitz type	Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.	mondoexuq1wtf	Herlitz-Pearson-type epidermolysis bullosa|Herlitz-Pearson type epidermolysis bullosa|JEB, generalized severe|JEB-H|Herlitz type epidermolysis bullosa junctionalis|epidermolysis bullosa, junctional, Herlitz-Pearson type|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz type|JEB-Herlitz type|epidermolysis bullosa Junctionalis, Herlitz type|junctional epidermolysis bullosa, Herlitz-Pearson type|junctional epidermolysis bullosa generalisata gravis|epidermolysis bullosa, junctional, Herlitz type|junctional epidermolysis bullosa, generalized severe											Orphanet:79404|DOID:0060737|SCTID:400140006|GARD:0002153|ICD10:Q81.1|OMIM:226700														https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type				owl:Class
MONDO:0019094	biolink:NamedThing	congenital Epstein-Barr virus infection	Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.	mondoexuq1wtf	congenital EBV infection|antenatal Epstein-Barr virus infection|antenatal EBV infection|mother-to-child transmission of Epstein-Barr virus infection											Orphanet:70596|UMLS:C4274357|SCTID:716660007|ICD10:P35.8																		owl:Class
MONDO:0016927	biolink:NamedThing	partial duplication of chromosome 6		mondoexuq1wtf	partial trisomy of chromosome 6|partial duplication of chromosome type 6											Orphanet:262628|SCTID:726345000																		owl:Class
MONDO:0015282	biolink:NamedThing	cardiomyopathy-cataract-hip spine disease syndrome	Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	familial dilated cardiomyopathy associated with cataracts and hip-spine disease|Krasnow-Qazi syndrome|Krasnow Qazi Yermakov syndrome|Krasnow Qazi syndrome|cardiomyopathy cataract hip spine disease											SCTID:720609003|GARD:0001102|UMLS:C2931548|Orphanet:1345|MESH:C537616														https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease				owl:Class
MONDO:0100408	biolink:NamedThing	acute myeloid leukemia, t(16;21)(q24;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)	mondoexuq1wtf	AML, t(16;21)(q24;q22)																													owl:Class
MONDO:0007570	biolink:NamedThing	erythema palmare hereditarium	Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	mondoexuq1wtf	lane disease|erythema palmare hereditarium|Red palms disease											Orphanet:231031|UMLS:C1851502|ICD10:L59.8|OMIM:133000|SCTID:763767006|MESH:C565041																		owl:Class
MONDO:0016475	biolink:NamedThing	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15		mondoexuq1wtf	Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15											ICD10:Q87.3|UMLS:CN201470|Orphanet:231117																		owl:Class
MONDO:0021932	biolink:NamedThing	infection by Trypanosoma gambiense	Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.	mondoexuq1wtf	Infection by Trypanosoma gambiense|Infection caused by Trypanosoma gambiense|Gambian trypanosomiasis|chronic sleeping sickness|Gambian sleeping sickness|Gambiense trypanosomiasis infection											GARD:0008540|SCTID:75809006|ICD9:086.3|UMLS:C0041232|NCIT:C35084																		owl:Class
MONDO:0030025	biolink:NamedThing	neurodevelopmental disorder with hypotonia, microcephaly, and seizures		mondoexuq1wtf	neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES|NEDHYMS											OMIM:618862																		owl:Class
MONDO:0017189	biolink:NamedThing	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide	mondoexuq1wtf	NI-PHH											Orphanet:276608|UMLS:C4274082|ICD10:E16.1|SCTID:717044000																		owl:Class
MONDO:0017267	biolink:NamedThing	self-healing collodion baby	Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	mondoexuq1wtf	self-improving collodion baby|self-improving congenital ichthyosis|SICI|SHCB											Orphanet:281122|UMLS:C1855789|SCTID:718632004|ICD10:Q80.2																		owl:Class
MONDO:0030990	biolink:NamedThing	Kohlschutter-Tonz syndrome-like		mondoexuq1wtf	KTZSL											OMIM:619229																		owl:Class
MONDO:0005481	biolink:NamedThing	contact dermatitis due to nickel	A form of allergic contact dermatitis that results from exposure to nickel	mondoexuq1wtf												SCTID:93419003|UMLS:C0684345|EFO:0005320																		owl:Class
MONDO:0016263	biolink:NamedThing	primitive neuroectodermal tumor of the corpus uteri	A primitive neuroectodermal tumor that involves the body of uterus.	mondoexuq1wtf	malignant peripheral neuroectodermal tumor of the corpus uteri|peripheral neuroectodermal cancer of the corpus uteri|primitive neuroectodermal tumor of body of uterus|body of uterus primitive neuroectodermal tumor											ICD10:C54.1|UMLS:CN201052|ICD10:C54.0|Orphanet:213630|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2																		owl:Class
MONDO:0016083	biolink:NamedThing	FLOTCH syndrome	FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.	mondoexuq1wtf	leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity											UMLS:C2931411|ICD10:L60.8|MESH:C537065|GARD:0002346|Orphanet:2045														https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome				owl:Class
MONDO:0010540	biolink:NamedThing	bullous dystrophy, macular type	Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	mondoexuq1wtf	EBM|epidermolysis bullosa macular type|epidermolysis bullosa, macular type|bullous dystrophy hereditary macular type|bullous dystrophy, hereditary macular type											GARD:0001038|OMIM:302000|ICD10:Q81.8|UMLS:C0795974|Orphanet:1867|MESH:C563065														https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type				owl:Class
MONDO:0013067	biolink:NamedThing	cataract 34 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.	mondoexuq1wtf	CATC3|autosomal recessive congenital cataract 3|cataract 34, multiple types, with or without microcornea|cataract 34, multiple types|cataract, autosomal recessive congenital 3|FOXE3 cataract (disease)|CTRCT34|cataract 34 multiple types with or without microcornea|cataract (disease) caused by mutation in FOXE3											ICD10:Q12.0|MESH:C567835|UMLS:C2751822|OMIM:612968|DOID:0110230																		owl:Class
MONDO:0054780	biolink:NamedThing	elliptocytosis 3		mondoexuq1wtf	EL3|anemia, perinatal hemolytic, fatal or near-fatal|elliptocytosis 3											MESH:C566678|OMIM:617948																		owl:Class
MONDO:0011542	biolink:NamedThing	psoriasis 6, susceptibility to		mondoexuq1wtf	PSORS6|psoriasis 6, susceptibility to											DOID:0111290|OMIM:605364																		owl:Class
MONDO:0008453	biolink:NamedThing	adult-onset proximal spinal muscular atrophy, autosomal dominant		mondoexuq1wtf	SMAFK|autosomal dominant adult-onset proximal spinal muscular atrophy|Finkel late-adult type Sma|spinal muscular atrophy, proximal, adult, autosomal dominant|Finkel disease|autosomal dominant adult-onset proximal SMA|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, late-onset, FINKEL type											Orphanet:209335|UMLS:CN200940|ICD10:G12.1|DOID:0111194|OMIM:182980																		owl:Class
MONDO:0010124	biolink:NamedThing	thumb, distal hyperextensibility of		mondoexuq1wtf	thumb, distal hyperextensibility of											OMIM:274200																		owl:Class
MONDO:0010471	biolink:NamedThing	Cornelia de Lange syndrome 5		mondoexuq1wtf	Cornelia De Lange syndrome type 5|Cornelia DE Lange syndrome 5|CDLS5|Cornelia de Lange syndrome 5											OMIM:300882|UMLS:C3550903|DOID:0080509																		owl:Class
MONDO:0042458	biolink:NamedThing	Trichinella spiralis infectious disease	An disease or disorder caused by infection with Trichinella spiralis.	mondoexuq1wtf	trichiniasis caused by Trichinella spiralis|trichinelliasis caused by Trichinella spiralis|Trichinella spiralis caused disease or disorder|trichinellosis caused by Trichinella spiralis|Trichinella spiralis disease or disorder|infection by larvae of Trichinella spiralis|infection caused by larvae of Trichinella spiralis|trichinosis caused by Trichinella spiralis											SCTID:88264003|UMLS:C3887668																		owl:Class
MONDO:0001151	biolink:NamedThing	benign essential hypertension	A condition of mild to moderate high blood pressure that has no identifiable cause.	mondoexuq1wtf	benign essential hypertension											DOID:10913|COHD:312648|UMLS:C0155583|ICD9:401.1|SCTID:1201005																		owl:Class
MONDO:0004893	biolink:NamedThing	hypertropia	Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.	mondoexuq1wtf												ICD9:378.31|COHD:375275|DOID:9837|ICD10:H50.2|NCIT:C34716|SCTID:40608009|UMLS:C0020575																		owl:Class
MONDO:0033260	biolink:NamedThing	deafness, autosomal dominant 73		mondoexuq1wtf	deafness, autosomal dominant 73|DFNA73|autosomal dominant nonsyndromic deafness 73											DOID:0080269|OMIM:617663|UMLS:CN461628																		owl:Class
MONDO:0015343	biolink:NamedThing	secondary acute transverse myelitis	Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.	mondoexuq1wtf	disease-associated transverse myelitis											UMLS:CN199396|ICD10:G37.3|Orphanet:139420																		owl:Class
MONDO:0008831	biolink:NamedThing	asphyxiating thoracic dystrophy 1	An asphyxiating thoracic dystrophy associated with variation in the region 15q13.	mondoexuq1wtf	SRTD1|short-rib thoracic dysplasia 1 with or without polydactyly|thoracic-pelvic-phalangeal dystrophy|asphyxiating thoracic dystrophy 1|asphyxiating thoracic dystrophy type 1|ATD1|Jeune syndrome											UMLS:CN119532|DOID:0110085|OMIM:208500|ICD10:Q77.2																		owl:Class
MONDO:0021171	biolink:NamedThing	Timothy syndrome type 1 (disorder)	Classic form of Timothy syndrome, includes all features of generic.	mondoexuq1wtf	Timothy syndrome, classic type											SCTID:699256006|ICD9:759.89																		owl:Class
MONDO:0020058	biolink:NamedThing	gonosome anomaly		mondoexuq1wtf	Sex-chromosome anomaly											SCTID:95462004|ICD9:758.8|ICD9:758.81|Orphanet:98155|COHD:441398																		owl:Class
MONDO:0032739	biolink:NamedThing	spermatogenic failure 36		mondoexuq1wtf	SPGF36|SPERMATOGENIC FAILURE 36											OMIM:618420																		owl:Class
MONDO:0006336	biolink:NamedThing	ovarian endometrioid adenocarcinoma with squamous differentiation	An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.	mondoexuq1wtf	ovarian adenoacanthoma|ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation											NCIT:C40061|EFO:1000417																		owl:Class
MONDO:0003065	biolink:NamedThing	nasal cavity inverting papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.	mondoexuq1wtf	nasal cavity inverted papilloma|inverting papilloma of nasal cavity|inverting papilloma of the nasal cavity|nasal cavity Schneiderian papilloma, inverted type											UMLS:C0280336|NCIT:C8194|DOID:4633																		owl:Class
MONDO:0001853	biolink:NamedThing	contact blepharoconjunctivitis		mondoexuq1wtf												DOID:13999|COHD:374959|SCTID:10813004|UMLS:C0155150|ICD10:H10.53|ICD9:372.22																		owl:Class
MONDO:0019628	biolink:NamedThing	Rieger anomaly	Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.	mondoexuq1wtf												Orphanet:91483|MedDRA:10059198|ICD10:Q13.8																		owl:Class
MONDO:0012087	biolink:NamedThing	primary ciliary dyskinesia 4	A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.	mondoexuq1wtf	CILD4|primary ciliary dyskinesia 4 with or without situs inversus|ciliary dyskinesia, primary, 4, with or without situs inversus|primary ciliary dyskinesia type 4|ciliary dyskinesia, primary, 4											OMIM:608646|DOID:0110614|ICD10:Q34.8|MESH:C535279|UMLS:C1837616																		owl:Class
MONDO:0032924	biolink:NamedThing	ciliary dyskinesia, primary, 45		mondoexuq1wtf	Ciliary Dyskinesia, Primary, 45, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 45|CILD45											OMIM:618801																		owl:Class
MONDO:0005796	biolink:NamedThing	HIV enteropathy	A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)	mondoexuq1wtf												UMLS:C0282616|EFO:0007311|MESH:D019053																		owl:Class
MONDO:0002757	biolink:NamedThing	acute allergic sanguinous otitis media	A acute sanguinous otitis media caused by an allergen.	mondoexuq1wtf												SCTID:17866004|DOID:3728|ICD9:381.06|UMLS:C0155420																		owl:Class
MONDO:0043361	biolink:NamedThing	May-Thurner syndrome	A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.	mondoexuq1wtf	iliac vein compression syndrome|syndrome, May-Thurner|compression syndrome, Iliocaval|syndromes, Iliocaval compression|May Thurner syndrome|syndrome, Iliocaval compression|May-Thurner syndrome|Iliocaval compression syndromes|Iliocaval compression syndrome|compression syndromes, Iliocaval|Iliac vein compression syndrome|Cockett syndrome|syndrome, Cockett											SCTID:448804008|GARD:0012141|MESH:D062108|UMLS:C3165062																		owl:Class
MONDO:0004057	biolink:NamedThing	micropapillary variant infiltrating bladder urothelial carcinoma	An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003	mondoexuq1wtf	infiltrating bladder urothelial carcinoma, micropapillary variant											EFO:0008512|NCIT:C27202|DOID:6976|UMLS:C1517579																		owl:Class
MONDO:0007503	biolink:NamedThing	ear without helix		mondoexuq1wtf	ear without helix											OMIM:128800																		owl:Class
MONDO:0000424	biolink:NamedThing	inborn vitamin B12 deficiency	Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.	mondoexuq1wtf	inborn error of cobalamin metabolic process|cobalamin deficiency|inborn cobalamin metabolic process disorder|inborn vitamin B12 deficiency (disease)|rare inborn error of cobalamin metabolic process|hypocobalaminemia		inborn vitamin B12 deficiency (disease)									DOID:0050731|EFO:0000734																		owl:Class
MONDO:0007683	biolink:NamedThing	Grant syndrome	Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	mondoexuq1wtf	Grant syndrome|persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia											MESH:C537293|GARD:0002559|Orphanet:2097|OMIM:138930|UMLS:C1841835|SCTID:723827003|ICD10:Q87.5														https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome				owl:Class
MONDO:0007760	biolink:NamedThing	hyperlipoproteinemia, type II, and deafness		mondoexuq1wtf	hyperlipoproteinemia, type II, and deafness											UMLS:C1840425|MESH:C564170|OMIM:144300																		owl:Class
MONDO:0100220	biolink:NamedThing	Rajab interstitial lung disease with brain calcifications 2		mondoexuq1wtf	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2|RILDBC2							http://orcid.org/0000-0001-5208-3432				OMIM:619013																		owl:Class
MONDO:0019538	biolink:NamedThing	Gaisbock syndrome	Polycythemia that is caused by stress.	mondoexuq1wtf	Pseudopolycythemia|stress polycythemia|GaisböCK syndrome|Pseudopolycythaemia|polycythemia, emotional|Gaisbock's syndrome|Gaisboeck's syndrome|stress erythrocytosis											GARD:0008402|MedDRA:10042217|UMLS:CN206365|DOID:2838|UMLS:C2242785|Orphanet:90041|SCTID:36874002|NCIT:C27174|UMLS:C0541719|MedDRA:10053885|ICD10:D75.1																		owl:Class
MONDO:0032855	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies		mondoexuq1wtf	NEDDFSA|NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES											OMIM:618659																		owl:Class
MONDO:0100413	biolink:NamedThing	acute myeloid leukemia, biallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)	mondoexuq1wtf	AML, C/EBPalpha Biallelic Gene Mutation|AML, CEBPA Biallelic Gene Mutation|AML, CEBP Biallelic Gene Mutation|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, biCEBPA																													owl:Class
MONDO:0017174	biolink:NamedThing	Machado-Joseph disease type 1	Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.	mondoexuq1wtf	SCA3, Joseph type|azorean disease, type i|spinocerebellar ataxia type 3, Joseph type											ICD10:G11.8|SCTID:91953003|Orphanet:276238																		owl:Class
MONDO:0023071	biolink:NamedThing	enterovirus antenatal infection		mondoexuq1wtf												GARD:0002130														https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection				owl:Class
MONDO:0032655	biolink:NamedThing	visual impairment and progressive phthisis bulbi		mondoexuq1wtf	VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI|VIPB											OMIM:618283|DOID:0070356																		owl:Class
MONDO:0017930	biolink:NamedThing	mixed sclerosing bone dystrophy with extra-skeletal manifestations		mondoexuq1wtf												ICD10:M85.8|Orphanet:324364																		owl:Class
MONDO:0007651	biolink:NamedThing	gastrocutaneous syndrome		mondoexuq1wtf	gastrocutaneous syndrome|peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia											Orphanet:2069|GARD:0002438|MESH:C535651|UMLS:C1850899|OMIM:137270														https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome				owl:Class
MONDO:0009017	biolink:NamedThing	corneal degeneration, band-shaped spheroid		mondoexuq1wtf	corneal degeneration, band-shaped spheroid											OMIM:217520																		owl:Class
MONDO:0011306	biolink:NamedThing	muscular dystrophy, congenital, with cerebellar atrophy		mondoexuq1wtf	muscular dystrophy, congenital, with cerebellar atrophy											MESH:C566392|OMIM:603323|UMLS:C1864028																		owl:Class
MONDO:0019897	biolink:NamedThing	distal monosomy 12q		mondoexuq1wtf	distal monosomy type 12q|distal deletion 12q|telomeric deletion 12q|monosomy 12qter											Orphanet:96149|ICD10:Q93.5																		owl:Class
MONDO:0060670	biolink:NamedThing	amyotrophic lateral sclerosis, susceptibility to, 25		mondoexuq1wtf	amyotrophic lateral sclerosis, susceptibility to, 25|ALS25											OMIM:617921|UMLS:CN895594																		owl:Class
MONDO:0010322	biolink:NamedThing	intellectual disability, X-linked 2		mondoexuq1wtf	intellectual disability, X-linked 2|MRX2|mental retardation, X-linked 2											UMLS:C0796207|OMIM:300428|MESH:C563135																		owl:Class
MONDO:0013335	biolink:NamedThing	tuberculin skin test reactivity, absence of		mondoexuq1wtf	Tst1|tst reactivity, absence of|tuberculin skin test reactivity, absence of											OMIM:613636																		owl:Class
MONDO:0030918	biolink:NamedThing	intellectual disability, autosomal dominant 52		mondoexuq1wtf	autosomal dominant mental retardation 52|MRD52|intellectual disability, autosomal dominant 52|autosomal dominant intellectual disability 52|mental retardation, autosomal dominant 52											DOID:0080231|EFO:0009152|OMIM:617796|UMLS:CN671932																		owl:Class
MONDO:0020391	biolink:NamedThing	pulmonary artery coming from the aorta	Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.	mondoexuq1wtf	hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta											GARD:0004586|Orphanet:99050|ICD10:Q25.7														https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta				owl:Class
MONDO:0033554	biolink:NamedThing	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		mondoexuq1wtf	IMD73B|IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA											OMIM:618986																		owl:Class
MONDO:0008699	biolink:NamedThing	achalasia microcephaly syndrome	Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.	mondoexuq1wtf	achalasia-microcephaly syndrome|achalasia microcephaly											MESH:C536010|Orphanet:929|UMLS:C1860212|DOID:0050796|OMIM:200450|ICD10:Q39.5|GARD:0000456|SCTID:718573009														https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome				owl:Class
MONDO:0020538	biolink:NamedThing	malignant dysgerminomatous germ cell tumor of ovary	Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.	mondoexuq1wtf	malignant ovarian dysgerminoma|dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary											UMLS:CN207439|ICD10:C56|Orphanet:99912																		owl:Class
MONDO:0013552	biolink:NamedThing	hereditary spastic paraplegia 52	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in AP4S1|autosomal recessive spastic paraplegia 52|cerebral palsy, spastic quadriplegic, 6|CPSQ6|AP4S1 hereditary spastic paraplegia|spastic quadriplegic cerebral palsy 6|cerebral palsy, spastic quadriplegic, 6, formerly|hereditary spastic paraplegia type 52|spastic paraplegia 52, autosomal recessive|SPG52											OMIM:614067|UMLS:C3279743|DOID:0110804																		owl:Class
MONDO:0008282	biolink:NamedThing	polyposis, intestinal, with multiple exostoses		mondoexuq1wtf	polyposis, intestinal, with multiple exostoses											OMIM:175450|MESH:C566776|UMLS:C1868005																		owl:Class
MONDO:0016774	biolink:NamedThing	lichen planus pigmentosus	Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.	mondoexuq1wtf	LP pigmentosa|lichen planus pigmentosus inversus|lichen planus pigmentosa|LP pigmentosus											GARD:0010816|SCTID:717061002|ICD10:L43.8|Orphanet:254463|UMLS:C0406366														https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus				owl:Class
MONDO:0012441	biolink:NamedThing	migraine with or without aura, susceptibility to, 11		mondoexuq1wtf	migraine with or without aura, susceptibility to, type 11|migraine with or without aura, susceptibility to, 11|Mgr11											OMIM:610209																		owl:Class
MONDO:0013227	biolink:NamedThing	congenital plasminogen activator inhibitor type 1 deficiency	Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	mondoexuq1wtf	hyperfibrinolysis due to Pai1 deficiency|plasminogen activator INHIBITOR-1 deficiency|plasminogen activator inhibitor type 1 deficiency|congenital PAI-1 deficiency											GARD:0004381|NCIT:C133884|Orphanet:465|SCTID:717407006|OMIM:613329|MESH:C567640|ICD10:D68.8																		owl:Class
MONDO:0010076	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Irapa type	Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	mondoexuq1wtf	SEMDIT|spondyloepimetaphyseal dysplasia, Irapa type|SEMD, Irapa type											OMIM:271650|UMLS:C0432213|ICD10:Q77.7|Orphanet:93351|MESH:C562958|SCTID:717330004																		owl:Class
MONDO:0019531	biolink:NamedThing	hemolytic anemia due to glutathione reductase deficiency	Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.	mondoexuq1wtf	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY										MONDO:0032856	OMIM:618660|ICD10:D55.1|Orphanet:90030																		owl:Class
MONDO:0007284	biolink:NamedThing	cataract 20 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.	mondoexuq1wtf	cataract (disease) caused by mutation in CRYGS|CTRCT20|CRYGS cataract (disease)|cataract 20, multiple types											OMIM:116100|DOID:0110240|ICD10:Q12.0																		owl:Class
MONDO:0100032	biolink:NamedThing	familial temporal lobe epilepsy syndrome	This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	mondoexuq1wtf					2018-06-23 01:48:38+00:00																									owl:Class
MONDO:0004037	biolink:NamedThing	retinal edema		mondoexuq1wtf												COHD:372903|DOID:6929|SCTID:6141006|ICD10:H35.81|ICD9:362.83																		owl:Class
MONDO:0010605	biolink:NamedThing	hemopoietic proliferation		mondoexuq1wtf	hemopoietic proliferation											OMIM:306930																		owl:Class
MONDO:0007418	biolink:NamedThing	Darwinian tubercle of pinna		mondoexuq1wtf	Darwinian tubercle of pinna|Darwinian Notch|Darwinian point of Pinna					Editor notes: OMIM treats this as two diseases						UMLS:C2751189|OMIM:124400|OMIM:124300																		owl:Class
MONDO:0012152	biolink:NamedThing	attention deficit-hyperactivity disorder, susceptibility to, 4		mondoexuq1wtf	attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4|Adhd4											OMIM:608906																		owl:Class
MONDO:0054801	biolink:NamedThing	erythrocytosis, familial, 6		mondoexuq1wtf	erythrocytosis, FAMILIAL, 6|polycythemia, Beta-globin type|erythrocytosis, Beta-globin type|ECYT6											UMLS:CN244941|DOID:0111632|OMIM:617980																		owl:Class
MONDO:0007789	biolink:NamedThing	hypertrophia musculorum vera		mondoexuq1wtf	hypertrophia musculorum vera											UMLS:C1840361|OMIM:145800|MESH:C564152																		owl:Class
MONDO:0009347	biolink:NamedThing	familial lipochrome histiocytosis		mondoexuq1wtf	histiocytosis, familial lipochrome											OMIM:235900|SCTID:234577004|MESH:C562738|UMLS:C0334125																		owl:Class
MONDO:0014118	biolink:NamedThing	congenital neutropenia-myelofibrosis-nephromegaly syndrome		mondoexuq1wtf	neutropenia, severe congenital, 5, autosomal recessive|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome|SCN5|vps45 deficiency											OMIM:615285|Orphanet:369852|ICD10:D70|UMLS:C3809031																		owl:Class
MONDO:0008092	biolink:NamedThing	hereditary neutrophilia	A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.	mondoexuq1wtf	neutrophilia, hereditary											DOID:0090120|ICD10:D72.8|Orphanet:279943|UMLS:C0543669|SCTID:129639005|MESH:C563010|OMIM:162830																		owl:Class
MONDO:0001758	biolink:NamedThing	paranasal sinus sarcoma	A malignant soft tissue neoplasm that arises from the paranasal sinus.	mondoexuq1wtf	sarcoma of accessory sinus|accessory sinus sarcoma|sarcoma of paranasal sinus|sarcoma of the accessory sinus|sarcoma of the paranasal sinus|paranasal sinus sarcoma											NCIT:C6849|DOID:1362|UMLS:C1335342																		owl:Class
MONDO:0015631	biolink:NamedThing	von Willebrand disease type 2N	Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).	mondoexuq1wtf	von Willebrand disease Normandy variant|von Willebrand disease, type 2N											UMLS:C1282975|Orphanet:166093|SCTID:359732009|ICD10:D68.0|NCIT:C131689																		owl:Class
MONDO:0008829	biolink:NamedThing	chylous ascites	Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.	mondoexuq1wtf	congenital chylous ascites|ascites, chylous											NCIT:C34482|MESH:D002915|OMIM:208300|SCTID:52985009|ICD10:I89.8|ICD9:457.8|MedDRA:10003446|UMLS:C0008732|GARD:0001359|Orphanet:1160														https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites				owl:Class
MONDO:0011673	biolink:NamedThing	autosomal dominant nonsyndromic deafness 30	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.	mondoexuq1wtf	DFNA30|autosomal dominant deafness 30|deafness, autosomal dominant 30|autosomal dominant nonsyndromic deafness type 30											MESH:C564706|DOID:0110560|OMIM:606451|ICD10:H90.3|UMLS:C1847972																		owl:Class
MONDO:0018871	biolink:NamedThing	acute myelomonocytic leukemia M4	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)	mondoexuq1wtf	AML-M4|AML M4|acute M4 myeloid leukemia|acute myelomonocytic leukemia|acute myelomonocytic leukemia (FAB type M4)|AMMoL|AMML|acute myeloblastic leukemia type 4											NCIT:C7463|SCTID:110005000|ICDO:9867/3|ONCOTREE:AMML|MedDRA:10000890|UMLS:C0023479|EFO:0000223|GARD:0000529|Orphanet:517|ICD10:C92.5														https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia				owl:Class
MONDO:0018618	biolink:NamedThing	46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect		mondoexuq1wtf												Orphanet:443090																		owl:Class
MONDO:0004538	biolink:NamedThing	endocervical type cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.	mondoexuq1wtf	cervical adenocarcinoma, endocervical type|cervical mucinous adenocarcinoma, endocervical type											UMLS:C1516421|NCIT:C40202|DOID:8340																		owl:Class
MONDO:0033969	biolink:NamedThing	inflammatory bowel disease-recurrent sinopulmonary infections syndrome		mondoexuq1wtf												Orphanet:529980																		owl:Class
MONDO:0003355	biolink:NamedThing	ovary leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of ovary|ovary leiomyosarcoma|ovarian leiomyosarcoma|leiomyosarcoma of the ovary											NCIT:C5234|UMLS:C1335163|EFO:0006718|DOID:5263																		owl:Class
MONDO:0008324	biolink:NamedThing	pseudoarthrogryposis		mondoexuq1wtf	ankylosis at elbow and knee|pseudoarthrogryposis|hereditary congenital rigidity of elbows and knees											MESH:C566753|OMIM:177300|UMLS:C1867485																		owl:Class
MONDO:0016461	biolink:NamedThing	5q35 microduplication syndrome	The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	mondoexuq1wtf	trisomy 5q35|dup(5)(q35)											Orphanet:228415|UMLS:C4304526|UMLS:CN201426|SCTID:719665003|ICD10:Q92.3																		owl:Class
MONDO:0012662	biolink:NamedThing	Usher syndrome type 2D	Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.	mondoexuq1wtf	Usher syndrome caused by mutation in WHRN|WHRN Usher syndrome|USHER syndrome, type IID|Usher syndrome, type 2D|USH2D|Usher syndrome type IID											ICD10:H35.5|DOID:0110840|OMIM:611383																		owl:Class
MONDO:0026777	biolink:NamedThing	VEXAS syndrome	An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.	mondoexuq1wtf	vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS											OMIM:301054|Orphanet:596753																		owl:Class
MONDO:0021632	biolink:NamedThing	primary brain neoplasm		mondoexuq1wtf	primary brain neoplasm|primary brain tumor											ONCOTREE:PBT|NCIT:C4952																		owl:Class
MONDO:0002088	biolink:NamedThing	partial retinal vein occlusion		mondoexuq1wtf	partial retinal vein occlusion|partial occlusion of retinal vein											DOID:1726|NCIT:C35341|UMLS:C0271080|ICD10:H34.82|SCTID:65593009																		owl:Class
MONDO:0019395	biolink:NamedThing	Hinman syndrome	Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.	mondoexuq1wtf	occult neuropathic bladder|HS|Hinman-Allen syndrome|HAS|non-neurogenic neurogenic bladder											Orphanet:84085|SCTID:429233001|ICD10:N32.8|UMLS:CN206094|UMLS:C1997362|ICD9:596.59																		owl:Class
MONDO:0017112	biolink:NamedThing	isolated unilateral hemispheric cerebellar hypoplasia	Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.	mondoexuq1wtf												Orphanet:269218|SCTID:766934006|ICD10:Q04.3																		owl:Class
MONDO:0017179	biolink:NamedThing	limbic encephalitis with caspr2 antibodies	Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.	mondoexuq1wtf												Orphanet:276402|SCTID:763793004|ICD10:G13.1																		owl:Class
MONDO:0018537	biolink:NamedThing	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	mondoexuq1wtf	squamous cell carcinoma of gallblader and EBT											ICD10:C24.1|ICD10:C24.9|Orphanet:424996|UMLS:CN237538|ICD10:C24.0|ICD10:C24.8|SCTID:766978002|ICD10:C23																		owl:Class
MONDO:0002223	biolink:NamedThing	ovarian malignant mesothelioma	A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.	mondoexuq1wtf	ovarian malignant mesothelioma|malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)											NCIT:C40444|UMLS:C1518721|DOID:2143																		owl:Class
MONDO:0022613	biolink:NamedThing	bruyn scheltens syndrome		mondoexuq1wtf												GARD:0001034														https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome				owl:Class
MONDO:0010190	biolink:NamedThing	pontocerebellar hypoplasia type 2A		mondoexuq1wtf	pontocerebellar hypoplasia with progressive cerebral atrophy|pontocerebellar hypoplasia, type 2A|Volendam neurodegenerative disease|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|TSEN54 pontocerebellar hypoplasia type 2|Pch2|PCH2A|microcephaly pontocerebellar hypoplasia dyskinesia											GARD:0003631|OMIM:277470|DOID:0060267|MESH:C564738														https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia				owl:Class
MONDO:0043373	biolink:NamedThing	sudden sensorineural hearing loss	Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.	mondoexuq1wtf	sudden deafness|deafness, sudden|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma|sudden sensorineural hearing loss|sudden hearing loss											MESH:D003639|GARD:0012927|Orphanet:90059|SCTID:715239002|UMLS:C4275242																		owl:Class
MONDO:0005204	biolink:NamedThing	primary antiphospholipid syndrome	An antiphospholipid syndrome that occurs as an isolated disorder.	mondoexuq1wtf												ICD9:795.79|UMLS:C0409980|EFO:0002689|SCTID:239892009																		owl:Class
MONDO:0004369	biolink:NamedThing	renal infectious disease		mondoexuq1wtf												ICD9:590.9|DOID:782|ICD9:590|ICD10:N15.9																		owl:Class
MONDO:0014247	biolink:NamedThing	familial episodic pain syndrome with predominantly lower limb involvement	A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.	mondoexuq1wtf	episodic pain syndrome, familial, type 3|episodic pain syndrome, familial, 3|FEPS3											NCIT:C125390|UMLS:C3809899|ICD10:M79.6|Orphanet:391392|OMIM:615552																		owl:Class
MONDO:0016570	biolink:NamedThing	primary pulmonary lymphoma	Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).	mondoexuq1wtf						Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma						ICD10:C85.7|Orphanet:2420|SCTID:718200007|MedDRA:10037418|UMLS:C0519063|UMLS:C4273669																		owl:Class
MONDO:0014104	biolink:NamedThing	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.	mondoexuq1wtf	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|dysequilibrium syndrome caused by mutation in ATP8A2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|ATP8A2 dysequilibrium syndrome|CAMRQ4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4											OMIM:615268|UMLS:C3808977																		owl:Class
MONDO:0012139	biolink:NamedThing	macular dystrophy, retinal, 3		mondoexuq1wtf	macular dystrophy, retinal, 3|MCDR3|macular dystrophy, retinal, type 3|Mcdr3											OMIM:608850|UMLS:C3888009																		owl:Class
MONDO:0006965	biolink:NamedThing	secondary hypertrophic osteoarthropathy	Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)	mondoexuq1wtf	HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy|Marie Bamberger disease|Bamberger-Marie disease|hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]											DOID:10393|ICD10:M89.4|ICD9:731.2|UMLS:C0029412|MESH:D010005|EFO:1001174|SCTID:203357004																		owl:Class
MONDO:0004353	biolink:NamedThing	extrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.	mondoexuq1wtf	extrahepatic biliary papillomatosis|extrahepatic bile duct papillomatosis|extrahepatic bile duct papillary neoplasm											DOID:7752|NCIT:C7124|UMLS:C1333511																		owl:Class
MONDO:0015554	biolink:NamedThing	typical urticaria pigmentosa		mondoexuq1wtf												ICD10:Q82.2|Orphanet:158766																		owl:Class
MONDO:0017491	biolink:NamedThing	tibial hemimelia, bilateral		mondoexuq1wtf	tibial longitudinal meromelia, bilateral											ICD10:Q72.5|UMLS:CN203229|Orphanet:295079																		owl:Class
MONDO:0017468	biolink:NamedThing	congenital shoulder dislocation		mondoexuq1wtf												Orphanet:295030|SCTID:23876003|ICD9:755.59|ICD10:Q68.8																		owl:Class
MONDO:0011355	biolink:NamedThing	cone-rod dystrophy 7	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.	mondoexuq1wtf	RIMS1 cone-rod dystrophy|cone-rod dystrophy type 7|CORD7|cone-rod dystrophy 7|cone-rod dystrophy caused by mutation in RIMS1											UMLS:C1863634|OMIM:603649|DOID:0111012|MESH:C566350																		owl:Class
MONDO:0032730	biolink:NamedThing	leukodystrophy, hypomyelinating, 18		mondoexuq1wtf	HLD18|LEUKODYSTROPHY, HYPOMYELINATING, 18											OMIM:618404																		owl:Class
MONDO:0013145	biolink:NamedThing	Brugada syndrome 6	Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.	mondoexuq1wtf	Brugada syndrome type 6|Brugada syndrome caused by mutation in KCNE3|Brugada syndrome 6|KCNE3 Brugada syndrome|BRGDA6											UMLS:C2751089|DOID:0110223|MESH:C567735|ICD10:I49.8|OMIM:613119																		owl:Class
MONDO:0009139	biolink:NamedThing	dyssegmental dysplasia, Rolland-Desbuquois type		mondoexuq1wtf	dyssegmental dwarfism Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dysplasia Rolland-Desbuquois type|Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism, Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type											Orphanet:156731|SCTID:95243004|ICD9:756.59|UMLS:C0432209|GARD:0009810|ICD10:Q77.7|OMIM:224400|MESH:C537999														https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type				owl:Class
MONDO:0011536	biolink:NamedThing	optic atrophy 4		mondoexuq1wtf	OPA4|optic atrophy 4											DOID:0111440|UMLS:C1854430|MESH:C565343|OMIM:605293																		owl:Class
MONDO:0032839	biolink:NamedThing	noonan syndrome 12		mondoexuq1wtf	NS12|NOONAN SYNDROME 12											OMIM:618624																		owl:Class
MONDO:0044302	biolink:NamedThing	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		mondoexuq1wtf	congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder|CHDFIDD											OMIM:617360|UMLS:C4479246																		owl:Class
MONDO:0007938	biolink:NamedThing	46,XY sex reversal 4	Sex reversal in an individual associated with a 9p24.3 deletion.	mondoexuq1wtf	chromosome 9P24.3 deletion syndrome|46,XY Sex reversal type 4|SRXY4|46,XY SEX reversal 4|46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|46,XY sex reversal 4											DOID:0111771|MESH:C567887|OMIM:154230|NCIT:C132270																		owl:Class
MONDO:0004088	biolink:NamedThing	cervical basaloid carcinoma	An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.	mondoexuq1wtf	cervical basaloid squamous cell carcinoma|cervical basaloid carcinoma											NCIT:C40189|UMLS:C1511063|DOID:7046																		owl:Class
MONDO:0007825	biolink:NamedThing	incisors, rotation of upper central		mondoexuq1wtf	incisors, rotation of upper central											OMIM:147350																		owl:Class
MONDO:0017832	biolink:NamedThing	mycobacterium xenopi infection	A disease caused by infection with Mycobacterium xenopi.	mondoexuq1wtf	Mycobacterium xenopi infectious disease|Mycobacterium xenopi caused disease or disorder|M. xenopi|Mycobacterium xenopi disease or disorder|Mycobacterium xenopi											UMLS:C0275715|Orphanet:314946|GARD:0010550|ICD10:A31.8																		owl:Class
MONDO:0013072	biolink:NamedThing	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.	mondoexuq1wtf	EDMD5|EMERY-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2											UMLS:C2751805|DOID:0070250|OMIM:612999																		owl:Class
MONDO:0007461	biolink:NamedThing	short stature-valvular heart disease-characteristic facies syndrome	Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	mondoexuq1wtf	disproportionate short stature with ptosis and valvular heart lesions											MESH:C565094|ICD10:Q87.1|OMIM:126190|Orphanet:2868|UMLS:C1852073																		owl:Class
MONDO:0032579	biolink:NamedThing	warburg-cinotti syndrome		mondoexuq1wtf	WRCN|WARBURG-CINOTTI SYNDROME											OMIM:618175																		owl:Class
MONDO:0001683	biolink:NamedThing	pancreatic mucinous ductal ectasia		mondoexuq1wtf												DOID:13313|UMLS:C1335310|NCIT:C5717																		owl:Class
MONDO:0005759	biolink:NamedThing	fascioloidiasis	Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.	mondoexuq1wtf												SCTID:69550000|UMLS:C0015655|DOID:1217|EFO:0007268|MESH:D005213																		owl:Class
MONDO:0002796	biolink:NamedThing	melanotic medulloblastoma	A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.	mondoexuq1wtf	medulloblastoma, melanotic (morphologic abnormality)|medulloblastoma with melanotic differentiation|melanotic medulloblastoma|melanocytic medulloblastoma|MMBL|medulloblastoma, melanotic											NCIT:C9497|DOID:3868|ONCOTREE:MMBL|UMLS:C1275668																		owl:Class
MONDO:0030893	biolink:NamedThing	leukoencephalopathy, progressive, infantile-onset, with or without deafness		mondoexuq1wtf	LEPID											OMIM:619147																		owl:Class
MONDO:0002461	biolink:NamedThing	membranoproliferative glomerulonephritis	Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.	mondoexuq1wtf	membranoproliferative glomerulonephritis (disease)|chronic glomerulonephritis, lobular|membranoproliferative glomerulonephritis|lobular glomerulonephritis		membranoproliferative glomerulonephritis (disease)									DOID:2920|HP:0000793																		owl:Class
MONDO:0005406	biolink:NamedThing	gestational diabetes	Carbohydrate intolerance first diagnosed during pregnancy.	mondoexuq1wtf	gestational diabetes mellitus|maternal gestational diabetes mellitus|GDM|diabetes in pregnancy											ICD10:O24.4|UMLS:C0085207|NCIT:C34942|SCTID:11687002|DOID:11714|MESH:D016640|EFO:0004593																		owl:Class
MONDO:0042724	biolink:NamedThing	macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations		mondoexuq1wtf	Volcke Soekarman syndrome											GARD:0000172																		owl:Class
MONDO:0000661	biolink:NamedThing	alexithymia	An agnosia that is a deficiency in understanding, processing, or describing emotions.	mondoexuq1wtf												DOID:0060131																		owl:Class
MONDO:0018651	biolink:NamedThing	lipoyl transferase 2 deficiency		mondoexuq1wtf												Orphanet:447795																		owl:Class
MONDO:0000294	biolink:NamedThing	mesocestoidiasis	An disease or disorder caused by infection with Mesocestoides.	mondoexuq1wtf	Mesocestoides infectious disease|infection caused by Mesocestoides|Mesocestoides caused disease or disorder|infection by Mesocestoides|Mesocestoides disease or disorder											SCTID:85750001|UMLS:C0277110|DOID:0050253|UMLS:C0277108																		owl:Class
MONDO:0007498	biolink:NamedThing	ear exostoses		mondoexuq1wtf	ear exostoses|exostoses of external auditory canal											OMIM:128300|UMLS:C0155411																		owl:Class
MONDO:0009059	biolink:NamedThing	cysteine Peptiduria		mondoexuq1wtf	cysteine Peptiduria											UMLS:C1857438|MESH:C565659|OMIM:219550																		owl:Class
MONDO:0004001	biolink:NamedThing	compartment syndrome	Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.	mondoexuq1wtf	compartmental syndrome|compartment syndrome											SCTID:111245009|MESH:D003161|ICD9:958.8|GARD:0006141|NCIT:C118422|ICD9:958.90|ICD10:T79.A0|DOID:682|COHD:134734|UMLS:C0009492														https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome				owl:Class
MONDO:0032633	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 29		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29|MC1DN29											OMIM:618250																		owl:Class
MONDO:0003727	biolink:NamedThing	animal phobia	An overwhelming, irrational, and persistent fear of animals.	mondoexuq1wtf	fear of animals (finding)|zoophobia (finding)|fear of animals|zoophobia											EFO:1001876|DOID:600|NCIT:C35273																		owl:Class
MONDO:0007867	biolink:NamedThing	nonsyndromic congenital nail disorder 2		mondoexuq1wtf	familial koilonychia|NDNC2|congenital koilonychia|nail disorder, nonsyndromic congenital, 2|hereditary koilonychia|spoon nails|Koilonychia with leukonychia|nonsyndromic congenital nail disorder type 2|Koilonychia, hereditary											GARD:0009760|DOID:0080080|SCTID:66270006|MESH:C537260|OMIM:149300|ICD9:703.8																		owl:Class
MONDO:0011850	biolink:NamedThing	migraine with or without aura, susceptibility to, 5		mondoexuq1wtf	migraine with or without aura, susceptibility to, 5|Mgr5|migraine with or without aura, susceptibility to, type 5											OMIM:607508																		owl:Class
MONDO:0016162	biolink:NamedThing	bilateral frontal polymicrogyria	Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf												Orphanet:208444|ICD10:Q04.3|GARD:0010783														https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria				owl:Class
MONDO:0011267	biolink:NamedThing	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration		mondoexuq1wtf	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration|mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration|Mrst											UMLS:C1864549|MESH:C566429|OMIM:602685																		owl:Class
MONDO:0032863	biolink:NamedThing	spermatogenic failure 41		mondoexuq1wtf	SPERMATOGENIC FAILURE 41|SPGF41											OMIM:618670																		owl:Class
MONDO:0001036	biolink:NamedThing	hypopyon	An accumulation of pus in the anterior chamber of the eye.	mondoexuq1wtf												ICD10:H20.05|UMLS:C0020641|COHD:439018|ICD9:364.05|SCTID:87807004|DOID:10443|NCIT:C50593																		owl:Class
MONDO:0019451	biolink:NamedThing	chronic neutrophilic leukemia	A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.	mondoexuq1wtf	neutrophilic leukemia|chronic neutrophilic leukemia|CNL											UMLS:C0474856|Orphanet:86829|ONCOTREE:CNL|EFO:1000179|ICDO:9963/3|MESH:D015467|DOID:0080187|GARD:0010585|ICD10:D47.1|UMLS:C0023481|SCTID:188734009|NCIT:C3179														https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia				owl:Class
MONDO:0013085	biolink:NamedThing	neuroblastoma, susceptibility to, 5		mondoexuq1wtf	NBLST5|neuroblastoma, susceptibility to, 5											OMIM:613016																		owl:Class
MONDO:0008342	biolink:NamedThing	pubic bone dysplasia		mondoexuq1wtf	pubic bone dysplasia											UMLS:C1867436|MESH:C566735|OMIM:178350																		owl:Class
MONDO:0006826	biolink:NamedThing	kwashiorkor	A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)	mondoexuq1wtf	Kwashiokor|nutritional edema with dyspigmentation of skin and hair|nutritional oedema with dyspigmentation of skin and/or hair											MESH:D007732|COHD:432593|EFO:1001009|DOID:13579|MedDRA:10023504|UMLS:C0022806|ICD10:E40|ICD9:260|SCTID:58262005																		owl:Class
MONDO:0000680	biolink:NamedThing	astereognosia	An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.	mondoexuq1wtf	astereognosia|astereognosia (disease)|somatosensory agnosia		astereognosia (disease)									DOID:0060150|HP:0010527																		owl:Class
MONDO:0017098	biolink:NamedThing	isolated focal cortical dysplasia type Ic		mondoexuq1wtf	FCD type Ic											Orphanet:268987|ICD10:Q04.8|UMLS:CN202455																		owl:Class
MONDO:0017223	biolink:NamedThing	Pelizaeus-Merzbacher disease, transitional form	The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.	mondoexuq1wtf	transitional PMD											ICD10:E75.2|Orphanet:280224																		owl:Class
MONDO:0024262	biolink:NamedThing	massive neonatal aspiration syndrome		mondoexuq1wtf												SCTID:10269001																		owl:Class
MONDO:0008219	biolink:NamedThing	pemphigus vulgaris	Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%).	mondoexuq1wtf	pemphigus vulgaris, familial|familial pemphigus vulgaris					Editor note: check familial vs acquired						UMLS:C0030809|ICD10:L10.0|Orphanet:704|MESH:C536645|NCIT:C34910|GARD:0007355|GARD:0004270|OMIM:169610|SCTID:49420001|MedDRA:10052802|DOID:0060851|EFO:0004719																		owl:Class
MONDO:0004881	biolink:NamedThing	myositis fibrosa	A form of myositis that is characterized by the formation of connective tissue within the muscle.	mondoexuq1wtf	interstitial myositis											UMLS:C0158362|COHD:75048|SCTID:55925001|ICD10:M60.1|NCIT:C26985|DOID:9788|ICD9:728.81																		owl:Class
MONDO:0018858	biolink:NamedThing	Graham Little-Piccardi-Lassueur syndrome	Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	mondoexuq1wtf	Graham Little syndrome|Graham-Little-Piccardi-Lassueur syndrome|Piccardi-Lassueur-Little syndrome											SCTID:718215008|Orphanet:505|UMLS:CN205176|ICD10:L66.1|GARD:0003195														https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome				owl:Class
MONDO:0008186	biolink:NamedThing	pancytopenia and occlusive vascular disease		mondoexuq1wtf	pancytopenia and occlusive vascular disease											MESH:C566836|OMIM:167850|UMLS:C1868652																		owl:Class
MONDO:0021826	biolink:NamedThing	aerobic Actinomyces infection	Infection with the less common aerobic antinomyces bacteria.	mondoexuq1wtf												GARD:0009779|MESH:C538054|UMLS:C2931717														https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection				owl:Class
MONDO:0004962	biolink:NamedThing	stage II endometrioid carcinoma	Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.	mondoexuq1wtf												EFO:0000206																		owl:Class
MONDO:0021907	biolink:NamedThing	aplasia cutis autosomal recessive	Aplasia cutis with autosomal recessive inheritance.	mondoexuq1wtf												GARD:0000749														https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive				owl:Class
MONDO:0022712	biolink:NamedThing	oculo digital syndrome		mondoexuq1wtf	Chemke-Oliver-Mallek syndrome|Chemke Oliver Mallek syndrome|multiple ophthalmic anomalies and digital hypoplasia											UMLS:C2931063|MESH:C535922|GARD:0004025														https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome				owl:Class
MONDO:0001699	biolink:NamedThing	tinea manuum	A dermatophytosis that involves the hands.	mondoexuq1wtf	Tinea manus|manus dermatophytosis|dermatophytosis of manus|dermatophytosis of hand											DOID:13369|SCTID:48971001|UMLS:C0153246|COHD:80946|ICD9:110.2|ICD10:B35.2																		owl:Class
MONDO:0008123	biolink:NamedThing	autosomal dominant omodysplasia	Autosomal dominant form of omodysplasia.	mondoexuq1wtf	omodysplasia, autosomal dominant|OMOD2|omodysplasia 2											ICD10:Q78.8|Orphanet:93328|GARD:0003643|OMIM:164745|MESH:C567664|SCTID:725165009																		owl:Class
MONDO:0056814	biolink:NamedThing	hormone-resistant prostate carcinoma	Prostate carcinoma that does not respond to hormone therapy.	mondoexuq1wtf	hormone-resistant prostate carcinoma|hormone-resistant prostate cancer											NCIT:C114933																		owl:Class
MONDO:0040502	biolink:NamedThing	glucocorticoid deficiency 5		mondoexuq1wtf	GCCD5|glucocorticoid deficiency 5											OMIM:617825																		owl:Class
MONDO:0060486	biolink:NamedThing	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect		mondoexuq1wtf	AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect											OMIM:617468																		owl:Class
MONDO:0004531	biolink:NamedThing	sclerosing adenosis of breast	Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.	mondoexuq1wtf	sclerosing breast adenosis|breast sclerosing adenosis|sclerosing adenosis of the breast|sclerosing adenosis											UMLS:C1335931|DOID:8310|NCIT:C5205|SCTID:105261000119101																		owl:Class
MONDO:0013453	biolink:NamedThing	Leber congenital amaurosis 8	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.	mondoexuq1wtf	Leber congenital amaurosis type 8|LCA8|Leber congenital amaurosis 8|Leber congenital amaurosis caused by mutation in CRB1|CRB1 Leber congenital amaurosis											ICD10:H35.5|DOID:0110079|UMLS:C3151202|GARD:0010881|OMIM:613835														https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8				owl:Class
MONDO:0003821	biolink:NamedThing	ovarian biphasic or triphasic teratoma	A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.	mondoexuq1wtf	ovarian biphasic or triphasic teratoma											UMLS:C1518691|DOID:6232|NCIT:C39992																		owl:Class
MONDO:0003653	biolink:NamedThing	stork bite		mondoexuq1wtf	Unna's nevus|Salmon patch nevus											DOID:5806|SCTID:254211001																		owl:Class
MONDO:0002948	biolink:NamedThing	skin fibroepithelial basal cell carcinoma	A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.	mondoexuq1wtf	Pinkus tumor|fibroepithelioma of Pinkus|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus type											SCTID:254703005|ICDO:8093/3|DOID:4291|NCIT:C4109|UMLS:C0346013																		owl:Class
MONDO:0001155	biolink:NamedThing	gastrojejunal ulcer		mondoexuq1wtf	acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction											UMLS:C0156045|UMLS:C0156047|UMLS:C0156044|ICD10:K28.0|UMLS:C0156048|ICD9:534.0|UMLS:C0156050|SCTID:4269005|DOID:10927|UMLS:C0156042																		owl:Class
MONDO:0043087	biolink:NamedThing	thickened earlobes with conductive deafness from incus-stapes abnormalities		mondoexuq1wtf	thickened earlobes with conductive deafness from incus-stapes abnormalities|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|Schweitzer Kemink Graham syndrome											GARD:0002034|MESH:C536511|UMLS:C2931222																		owl:Class
MONDO:0012410	biolink:NamedThing	Finnish upper limb-onset distal myopathy	Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	mondoexuq1wtf	MPD3|myopathy, distal, 3|distal myopathy type 3											ICD10:G71.0|Orphanet:399086|SCTID:763718009|UMLS:C1864706|OMIM:610099																		owl:Class
MONDO:0013972	biolink:NamedThing	Perrault syndrome 2	Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.	mondoexuq1wtf	PRLTS2|Perrault syndrome type 2|Perrault syndrome 2|Perrault syndrome caused by mutation in HARS2|HARS2 Perrault syndrome											OMIM:614926|UMLS:C3554105																		owl:Class
MONDO:0009010	biolink:NamedThing	aortic arch interruption	Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.	mondoexuq1wtf												GARD:0000740|ICD10:Q20.1|ICD10:Q25.21|MedDRA:10022599|Orphanet:2299|ICD10:Q25.4|ICD9:745.11														https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption				owl:Class
MONDO:0014408	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.	mondoexuq1wtf	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|MPPH3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2											UMLS:C4014742|OMIM:615938																		owl:Class
MONDO:0032844	biolink:NamedThing	infantile liver failure syndrome 3		mondoexuq1wtf	INFANTILE LIVER FAILURE SYNDROME 3|ILFS3											OMIM:618641																		owl:Class
MONDO:0011157	biolink:NamedThing	Gomez-Lopez-Hernandez syndrome	Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.	mondoexuq1wtf	Cerebellotrigeminal-dermal dysplasia|Gomez Lopez Hernandez syndrome|GLHS|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Gomez-Lopez-Hernandez syndrome|Cerebellotrigeminal-dermal dysplasia syndrome|Gómez-López-Hernández syndrome|Cerebellotrigeminal dermal dysplasia|craniosynostosis-alopecia-brain defect syndrome|GOMEZ-LOPEZ-HERNANDEZ syndrome|Gomez-Lopez-Hernández syndrome											MESH:C537285|GARD:0000229|Orphanet:1532|ICD10:Q07.8|SCTID:722451006|OMIM:601853														https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome				owl:Class
MONDO:0017484	biolink:NamedThing	femoral agenesis/hypoplasia, unilateral		mondoexuq1wtf	femoral intercalary meromelia, unilateral											Orphanet:295065|ICD10:Q72.4																		owl:Class
MONDO:0019267	biolink:NamedThing	vitamin B12-unresponsive methylmalonic acidemia type mut-	Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	mondoexuq1wtf	vitamin B12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-CoA mutase											ICD10:E71.1|Orphanet:79312|UMLS:CN205894|SCTID:237946002																		owl:Class
MONDO:0001139	biolink:NamedThing	sexual masochism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.	mondoexuq1wtf	sexual masochism											MESH:D008398|DOID:10849|ICD10:F65.51|SCTID:51239001|ICD9:302.83|NCIT:C94356																		owl:Class
MONDO:0000997	biolink:NamedThing	monocular esotropia	A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.	mondoexuq1wtf												SCTID:5455000|ICD9:378.01|UMLS:C0152204|ICD10:H50.01|DOID:10293|COHD:375285																		owl:Class
CL:0000822	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100088	biolink:NamedThing	late-onset familial alzheimer disease	A form of familial Alzheimer disease, that begins after age 65.	mondoexuq1wtf	Alzheimer disease type 2											GARD:0012799																		owl:Class
MONDO:0007426	biolink:NamedThing	deafness, unilateral		mondoexuq1wtf	deafness, unilateral											OMIM:125000|MESH:C567079|UMLS:C2607947																		owl:Class
MONDO:0003304	biolink:NamedThing	plexiform neurofibroma	An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)	mondoexuq1wtf	plexiform neurofibroma|plexiform neurofibroma (disease)		plexiform neurofibroma (disease)									HP:0009732|ICDO:9550/0|ICD9:215.9|SCTID:403818001|NCIT:C3797|DOID:5151|MESH:D018318|UMLS:C0206728|EFO:0000658																		owl:Class
MONDO:0021918	biolink:NamedThing	arena syndrome		mondoexuq1wtf	spastic paraplegia with iron deposits in basal ganglia											UMLS:C2931491|GARD:0009223|MESH:C537428														https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome				owl:Class
MONDO:0006787	biolink:NamedThing	hidrocystoma	A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.	mondoexuq1wtf	hidrocystoma (morphologic abnormality)|eccrine hidrocystoma of skin|eccrine cystadenoma|hidrocystoma|Hydrocystoma|apocrine cystadenoma|apocrine/eccrine hidrocystoma|cystadenoma											EFO:1000967|DOID:3893|UMLS:C0206672|ICDO:8404/0|MedDRA:10059019|MESH:D018251|NCIT:C3760|ICD9:709.8|SCTID:254725004																		owl:Class
MONDO:0003884	biolink:NamedThing	lipoma of the rectum	A benign adipose tissue neoplasm of the rectum.	mondoexuq1wtf	rectum lipoma|rectal lipoma|lipoma of rectum											UMLS:C1335684|NCIT:C5551|DOID:6459																		owl:Class
MONDO:0019160	biolink:NamedThing	primary progressive freezing gait	Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.	mondoexuq1wtf	PPFG											UMLS:C4275078|SCTID:715627004|UMLS:CN205712|Orphanet:75567																		owl:Class
MONDO:0024430	biolink:NamedThing	allesthesia	A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.	mondoexuq1wtf	allochiria|Alloesthesias|Alloesthesia|Dyschirias|false allochiria|Allesthesias|Allachesthesia|Allachesthesias|dyschiria											MESH:D066190																		owl:Class
MONDO:0004416	biolink:NamedThing	plasmacytoid variant infiltrating bladder urothelial carcinoma		mondoexuq1wtf	plasmacytoid/signet ring cell bladder carcinoma|infiltrating bladder urothelial carcinoma, plasmacytoid variant											DOID:7968|NCIT:C39823|UMLS:C1512742|ONCOTREE:SRCBC																		owl:Class
MONDO:0033259	biolink:NamedThing	deafness, autosomal dominant 72		mondoexuq1wtf	DFNA72|deafness, autosomal dominant 72|autosomal dominant nonsyndromic deafness 72											OMIM:617606|DOID:0080268																		owl:Class
MONDO:0008008	biolink:NamedThing	MOMO syndrome	MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	mondoexuq1wtf	macrocephaly-obesity-mental disability-ocular abnormalities syndrome|macrosomia, obesity, macrocephaly, and ocular abnormalities|macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|momo syndrome|macrosomia, obesity, macrocephaly, ocular abnormalities|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)											SCTID:724137002|MESH:C535812|UMLS:C1834759|OMIM:157980|Orphanet:2563|ICD10:Q87.3|GARD:0000178														https://rarediseases.info.nih.gov/diseases/178/momo-syndrome				owl:Class
MONDO:0006309	biolink:NamedThing	mucinous gastric adenocarcinoma	A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.	mondoexuq1wtf	mucinous stomach adenocarcinoma|MSTAD|stomach mucinous adenocarcinoma|mucinous gastric adenocarcinoma|mucinous adenocarcinoma of the stomach|mucinous adenocarcinoma of stomach											NCIT:C5248|UMLS:C1334809|DOID:3716|ONCOTREE:MSTAD|EFO:1000386																		owl:Class
MONDO:0008309	biolink:NamedThing	primary release disorder of platelets		mondoexuq1wtf	bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets											UMLS:C1867770|OMIM:176630|MESH:C566759|GARD:0010357														https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets				owl:Class
MONDO:0015317	biolink:NamedThing	laryngotracheal angioma		mondoexuq1wtf												SCTID:703199001|UMLS:C3839574|Orphanet:137935|ICD10:D18.0|ICD9:228.09																		owl:Class
MONDO:0022819	biolink:NamedThing	congenital arteriovenous shunt		mondoexuq1wtf												GARD:0006150														https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt				owl:Class
MONDO:0001578	biolink:NamedThing	hernia of ovary and fallopian tube		mondoexuq1wtf						Editor note: consider obsoleting (should be finding/phenotype)						ICD10:N83.4|ICD9:620.4|DOID:12735																		owl:Class
MONDO:0019532	biolink:NamedThing	autoimmune hemolytic anemia, warm type	Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).	mondoexuq1wtf	warm AIHA|wAHA|warm antibody autoimmune hemolytic anemia|warm antibody AIHA|wAIHA|warm antibody hemolytic anemia|warm-reacting-antibody hemolytic anemia											MedDRA:10047822|NCIT:C162611|UMLS:C0272118|ICD10:D59.1|Orphanet:90033|GARD:0007876|SCTID:3978000																		owl:Class
MONDO:0012257	biolink:NamedThing	Cerebrorenodigital syndrome		mondoexuq1wtf	CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula											ICD10:Q87.8|UMLS:C1836287|Orphanet:1396|MESH:C563731|OMIM:609345																		owl:Class
MONDO:0008622	biolink:NamedThing	tricho-retino-dento-digital syndrome	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	mondoexuq1wtf	Bork syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly|Bork Stender Schmidt syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome											OMIM:191482|Orphanet:1264|ICD10:Q82.4|SCTID:719910004|GARD:0000938|UMLS:C1860605|MESH:C536576																		owl:Class
MONDO:0017939	biolink:NamedThing	classic multiminicore myopathy		mondoexuq1wtf	classic multiminicore disease|classic MmD											UMLS:CN204085|Orphanet:324604|ICD10:G71.2																		owl:Class
MONDO:0043152	biolink:NamedThing	negative rheumatoid factor polyarthritis		mondoexuq1wtf	rheumatoid factor-negative polyarthritis|RF-ve CP|rheumatoid factor negative erosive chronic polyarthritis											UMLS:C2931825|MESH:C538347|GARD:0003931																		owl:Class
MONDO:0001525	biolink:NamedThing	thyrocalcitonin secretion disease		mondoexuq1wtf	disorder of thyrocalcitonin secretion											ICD9:246.0|UMLS:C0701822|COHD:140364|SCTID:190303007|DOID:12424																		owl:Class
MONDO:0004162	biolink:NamedThing	uterine corpus cellular leiomyoma	A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	mondoexuq1wtf	cellular leiomyoma of body of uterus|uterine corpus cellular leiomyoma|body of uterus cellular leiomyoma											DOID:7242|UMLS:C1519845|NCIT:C40163																		owl:Class
MONDO:0016384	biolink:NamedThing	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	mondoexuq1wtf	Salti-Salem syndrome											SCTID:721842008|UMLS:CN201280|ICD10:E23.0|Orphanet:2230																		owl:Class
MONDO:0007754	biolink:NamedThing	hyperhidrosis palmaris ET plantaris		mondoexuq1wtf	hyperhidrosis palmaris ET plantaris|HYPRPP|hyperhidrosis, primary palmar											UMLS:C1274743|OMIM:144110|MESH:C563185																		owl:Class
MONDO:0001750	biolink:NamedThing	non-renal secondary hyperparathyroidism		mondoexuq1wtf												DOID:13575|ICD9:252.02																		owl:Class
MONDO:0013428	biolink:NamedThing	Meier-Gorlin syndrome 2	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.	mondoexuq1wtf	Meier-GORLIN syndrome 2|MGORS2|Meier-Gorlin syndrome 2|Meier-Gorlin syndrome type 2|Meier-Gorlin syndrome caused by mutation in ORC4|ORC4 Meier-Gorlin syndrome											OMIM:613800|DOID:0080513|UMLS:C3151097																		owl:Class
MONDO:0011390	biolink:NamedThing	focal segmental glomerulosclerosis 2	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.	mondoexuq1wtf	focal segmental glomerulosclerosis caused by mutation in TRPC6|focal segmental glomerulosclerosis 2|FSGS2|glomerulosclerosis, focal segmental, 2|focal segmental glomerulosclerosis type 2|TRPC6 focal segmental glomerulosclerosis											OMIM:603965|DOID:0111129|UMLS:C1858915|MESH:C565831|ICD10:N04.1																		owl:Class
MONDO:0043985	biolink:NamedThing	central nervous system lupus	Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.	mondoexuq1wtf	central nervous system lupus|neuropsychiatric systemic lupus erythematosus|lupus Meningoencephalitides|CNS lupus|Meningoencephalitides, lupus|meningoencephalitis, lupus|systemic lupus Erythematosis, central nervous system|central nervous system systemic lupus Erythematosis|lupus meningoencephalitis|central nervous system lupus vasculitis											MESH:D020945|EFO:1001453|NCIT:C116919																		owl:Class
MONDO:0019232	biolink:NamedThing	inborn disorder of peptide metabolism		mondoexuq1wtf	disorder of peptide metabolism											Orphanet:79187|UMLS:CN227597																		owl:Class
MONDO:0015994	biolink:NamedThing	muscular dystrophy-white matter spongiosis syndrome		mondoexuq1wtf	Atrophie blanche|muscular dystrophy white matter spongiosis											Orphanet:1877|UMLS:CN200619|ICD10:G71.2|GARD:0003854														https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis				owl:Class
MONDO:0004445	biolink:NamedThing	bladder papillary clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.	mondoexuq1wtf	bladder papillary clear cell adenocarcinoma											NCIT:C39848|UMLS:C1511196|DOID:8051																		owl:Class
MONDO:0005325	biolink:NamedThing	radius fracture	Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.	mondoexuq1wtf												SCTID:12676007|EFO:0003957|MESH:D011885																		owl:Class
MONDO:0006631	biolink:NamedThing	osteoarthritis, toe	Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.	mondoexuq1wtf												EFO:1000788																		owl:Class
MONDO:0002959	biolink:NamedThing	radiculopathy	Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.	mondoexuq1wtf	nerve root disorder					Editor note: DO classifies under polyradiculopathy, which we invert						DOID:4306|ICD10:M54.1|MESH:D011843|SCTID:72274001|ICD10:M54.10|UMLS:C0700594																		owl:Class
MONDO:0011316	biolink:NamedThing	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions		mondoexuq1wtf	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions											UMLS:C1863920|OMIM:603393|MESH:C566378																		owl:Class
MONDO:0009538	biolink:NamedThing	lymphoid system deterioration, progressive		mondoexuq1wtf	lymphoid system deterioration, progressive											OMIM:247630|MESH:C565430|UMLS:C1855473																		owl:Class
MONDO:0030060	biolink:NamedThing	neurodevelopmental disorder with language impairment and behavioral abnormalities		mondoexuq1wtf	neurodevelopmental disorder with language impairment and behavioral abnormalities|NEDLIB|NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES											OMIM:618917																		owl:Class
MONDO:0017082	biolink:NamedThing	basal encephalocele		mondoexuq1wtf												UMLS:C4023176|ICD10:Q01.8|Orphanet:268829																		owl:Class
MONDO:0017617	biolink:NamedThing	acquired adult-onset immunodeficiency	A acquired immunodeficiency that occurs in an adult.	mondoexuq1wtf	anti-IFN-gamma autoantibody syndrome|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|adult acquired immunodeficiency|adult onset immunodeficiency syndrome|acquired immunodeficiency of adults											ICD10:D84.8|GARD:0011992|Orphanet:306431																		owl:Class
MONDO:0020792	biolink:NamedThing	dwarfism with tall vertebrae		mondoexuq1wtf												OMIM:126950																		owl:Class
MONDO:0004570	biolink:NamedThing	intestinal volvulus	Twisting of a loop of bowel that results in intestinal obstruction.	mondoexuq1wtf	volvulus|twist of intestine, bowel, or colon|intestinal volvulus											ICD9:560.2|COHD:197603|EFO:1000989|SCTID:9707006|UMLS:C0042961|MESH:D045822|ICD10:K56.2|DOID:8445																		owl:Class
MONDO:0100156	biolink:NamedThing	Imerslund-Grasbeck syndrome type 1	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.	mondoexuq1wtf	Mga1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|enterocyte cobalamin malabsorption|megaloblastic Anemia type 1|megaloblastic anemia, 1|MGA-1|MGA1|enterocyte intrinsic factor receptor, defect of|megaloblastic anemia, Finnish type							http://orcid.org/0000-0001-5208-3432				OMIM:261100|NCIT:C131677																		owl:Class
MONDO:0001255	biolink:NamedThing	ventilation pneumonitis	An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.	mondoexuq1wtf	humidifier lung|Air-conditioner and humidifier lung											ICD9:495.7|DOID:11289|SCTID:195990006|ICD10:J67.7|COHD:434670|UMLS:C0155891																		owl:Class
MONDO:0014950	biolink:NamedThing	aortic aneurysm, familial thoracic 10	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.	mondoexuq1wtf	aortic aneurysm, familial thoracic type 10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|aortic aneurysm, familial thoracic 10|LOX familial thoracic aortic aneurysm and aortic dissection|AAT10											UMLS:C4284414|OMIM:617168																		owl:Class
MONDO:0020483	biolink:NamedThing	acetazolamide-responsive myotonia	Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	mondoexuq1wtf	ACZ-responsive myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|ACZ-responsive congenital myotonia|painful myotonia|Acetazolamide-responsive congenital myotonia											ICD10:G71.1|Orphanet:99736|SCTID:715793003																		owl:Class
MONDO:0008581	biolink:NamedThing	malposition of teeth with or without hypodontia/oligodontia		mondoexuq1wtf	ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia											OMIM:189490																		owl:Class
MONDO:0007396	biolink:NamedThing	dysostosis, Stanescu type	Stanescu type dysostosis is a rare form of osteosclerosis.	mondoexuq1wtf	craniofacial dysostosis with diaphyseal hyperplasia|autosomal dominant osteosclerosis, Stanescu type|dysostosis Stanescu type|osteosclerosis, Stanescu type|Stanescu osteosclerosis|craniofacial dysostosis-diaphyseal hyperplasia syndrome											Orphanet:1798|UMLS:C0432263|GARD:0002016|SCTID:254124008|OMIM:122900|MESH:C562974|ICD10:Q78.8																		owl:Class
MONDO:0001546	biolink:NamedThing	hypermobility of coccyx		mondoexuq1wtf	coccygeal hypermobility syndrome|hypermobility of the coccyx											DOID:12537|UMLS:C0158295|ICD9:724.71|SCTID:202809009																		owl:Class
MONDO:0021105	biolink:NamedThing	NAFLD1		mondoexuq1wtf	NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|liver disease, alcoholic, susceptibility to, 1											OMIM:613282																		owl:Class
MONDO:0001866	biolink:NamedThing	bipolar I disorder	A bipolar disorder that is characterized by at least one manic or mixed episode.	mondoexuq1wtf	bipolar 1 disorder|bipolar I disorder											DOID:14042|ICD9:296.50|ICD9:296.7|SCTID:371596008|COHD:432876																		owl:Class
MONDO:0003572	biolink:NamedThing	nasopharyngeal type undifferentiated carcinoma	A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.	mondoexuq1wtf	lymphoepithelioma-like carcinoma|lymphoepithelioma|nasopharyngeal type undifferentiated carcinoma|Schminke tumor|Schmincke tumor|lymphoepithelial carcinoma											UMLS:C0334254|NCIT:C4107|ICDO:8082/3|DOID:5660																		owl:Class
MONDO:0004902	biolink:NamedThing	interstitial keratitis		mondoexuq1wtf												DOID:9857|ICD9:370.50|COHD:439808|ICD10:H16.30|UMLS:C0155088																		owl:Class
MONDO:0015042	biolink:NamedThing	primary plasmacytoma of the bone		mondoexuq1wtf												Orphanet:100021|ICD10:C90.3|UMLS:CN197327																		owl:Class
MONDO:0002945	biolink:NamedThing	micronodular basal cell carcinoma	A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.	mondoexuq1wtf	skin micronodular basal cell carcinoma											SCTID:402529002|DOID:4289|UMLS:C1367861|NCIT:C27541																		owl:Class
MONDO:0014044	biolink:NamedThing	dysmorphism-conductive hearing loss-heart defect syndrome	A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.	mondoexuq1wtf	TYSHCHENKO syndrome											SCTID:763279007|UMLS:C3554774|Orphanet:289553|OMIM:615102|ICD10:Q87.8																		owl:Class
MONDO:0001771	biolink:NamedThing	infective urethral stricture		mondoexuq1wtf												ICD9:598.01|DOID:13658|SCTID:80375002|ICD9:598.00|ICD9:136.9																		owl:Class
MONDO:0008431	biolink:NamedThing	slipped femoral capital epiphyses	A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip.	mondoexuq1wtf	epiphysiolysis capitis femoris|slipped femoral capital epiphyses											UMLS:C0149887|MESH:D060048|OMIM:182260																		owl:Class
MONDO:0005986	biolink:NamedThing	torovirus infectious disease	Infections with viruses of the genus torovirus, family coronaviridae.	mondoexuq1wtf	Torovirus caused disease or disorder|Torovirus infectious disease|Torovirus disease or disorder											UMLS:C0206607|MESH:D018176|EFO:0007514																		owl:Class
MONDO:0022401	biolink:NamedThing	agyria pachygyria polymicrogyria	Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.	mondoexuq1wtf												GARD:0000572														https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria				owl:Class
MONDO:0033486	biolink:NamedThing	leukodystrophy, hypomyelinating, 14		mondoexuq1wtf	hypomyelinating leukodystrophy 14|HLD14|leukodystrophy, hypomyelinating, 14											UMLS:CN845004|DOID:0080296|OMIM:617899																		owl:Class
MONDO:0007817	biolink:NamedThing	IgE responsiveness, atopic	Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.	mondoexuq1wtf	immediate hypersensitivity|type I hypersensitivity reaction|IgE response underlying allergic asthma and rhinitis|Immunoglobulin E, basic level of, in serum|IGER|Atopic hypersensitivity|IgE responsiveness, ATOPIC|type 1 hypersensitivity reaction|atopy, susceptibility to|IgE responsiveness, atopic|IgE, elevated level of|type 1 hypersensitivity|type I immediate hypersensitivity reaction|type I hypersensitivity|IgE, level of											OMIM:147050|UMLS:C1840253|NCIT:C3116																		owl:Class
GO:0005215	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009367	biolink:NamedThing	McKusick-Kaufman syndrome	McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.	mondoexuq1wtf	MKKS|Kaufman-Mckusick syndrome|McKusick-Kaufman syndrome|hydrometrocolpos-postaxial polydactyly syndrome|MCKUSICK-Kaufman syndrome|McKusick Kaufman syndrome|HMCS|Kaufman McKusick syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|hydrometrocolpos syndrome											GARD:0003427|ICD9:758.89|ICD10:Q87.8|MESH:C538159|DOID:0111255|UMLS:C0948368|SCTID:702407009|OMIM:236700|MedDRA:10052312|Orphanet:2473														https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome				owl:Class
NCBITaxon:11623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016217	biolink:NamedThing	mal de Debarquement	Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.	mondoexuq1wtf	MdDS|sickness of disembarkment|Mal de debarquement syndrome|Mal de débarquement|disembarkment syndrome|MDD											MedDRA:10064924|UMLS:C1608983|Orphanet:210272|SCTID:446079007|ICD10:H81.8|GARD:0006959																		owl:Class
MONDO:0010860	biolink:NamedThing	autosomal recessive nonsyndromic deafness 3	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.	mondoexuq1wtf	deafness, autosomal recessive 3|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|MYO15A autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 3|DFNB3|deafness, autosomal recessive type 3|NRSD3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|neurosensory nonsyndromic recessive deafness 3											OMIM:600316|DOID:0110488|MESH:C563961|ICD10:H90.3|UMLS:C1838263																		owl:Class
HGNC:7594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8840	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010452	biolink:NamedThing	intellectual disability, X-linked 90	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.	mondoexuq1wtf	intellectual disability, X-linked 90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|mental retardation, X-linked 90|MRX90|DLG3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 90|mental retardation, X-linked type 90											UMLS:C3275443|OMIM:300850																		owl:Class
HGNC:2902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1366	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:33780	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008780	biolink:NamedThing	amyotrophic lateral sclerosis type 2, juvenile	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis caused by mutation in ALS2|ALS2|amyotrophic lateral sclerosis 2|ALS, juvenile|amyotrophic lateral sclerosis 2, juvenile|ALS2 amyotrophic lateral sclerosis											MESH:C565957|OMIM:205100|DOID:0060194|ICD10:G12.2|GARD:0009470														https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2				owl:Class
MONDO:0012585	biolink:NamedThing	coronary heart disease, susceptibility to, 7	Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.	mondoexuq1wtf	CHDS7|CD36 coronary artery disease|susceptibility to coronary heart disease 7|coronary heart disease, susceptibility to, 7|coronary artery disease caused by mutation in CD36|coronary heart disease, susceptibility to, type 7											OMIM:610938																		owl:Class
HGNC:20330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002069	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0032543	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014478	biolink:NamedThing	mirror movements 3	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.	mondoexuq1wtf	mirror movements type 3|familial congenital mirror movements caused by mutation in DNAL4|DNAL4 familial congenital mirror movements|MRMV3|mirror movements 3											OMIM:616059|UMLS:C4015124																		owl:Class
HGNC:2955	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000178	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011450	biolink:NamedThing	breast-ovarian cancer, familial, susceptibility to, 1	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.	mondoexuq1wtf	BROVCA1|breast cancer, familial, susceptibility to, 1|ovarian cancer, familial, susceptibility to, 1|breast-ovarian cancer, familial, susceptibility to, type 1|BRCA1 hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, 1|susceptibility to familial breast-ovarian cancer 1|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1											OMIM:604370																		owl:Class
HGNC:1100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7610	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9990	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:33778	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030705	biolink:NamedThing	Trichomonas prostatitis	Infection of the prostate gland caused by Trichomonas vaginalis.	mondoexuq1wtf	Trichomonas prostatitis|Trichomonas vaginalis prostatitis (disease)|Trichomonas vaginalis caused prostatitis (disease)|trichomonal prostatitis											UMLS:C0153315|SCTID:71590000|ICD9:131.03|NCIT:C35176																		owl:Class
UBERON:0001831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004841	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100003	biolink:NamedThing	susceptibility to angioedema induced by ACE inhibitors	An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432				OMIM:300909														https://github.com/monarch-initiative/mondo/issues/2760				owl:Class
MONDO:0011163	biolink:NamedThing	malignant hyperthermia, susceptibility to, 5	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.	mondoexuq1wtf	malignant hyperthermia, susceptibility to, 5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia susceptibility type 5|malignant hyperthermia, susceptibility to, type 5|MHS5|susceptibility to malignant hyperthermia 5|malignant hyperthermia of anesthesia caused by mutation in CACNA1S|Mhs5|malignant hyperpyrexia susceptibility type 5											GARD:0003367|OMIM:601887|MESH:C535698														https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5				owl:Class
HGNC:1397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15469	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16812	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0031424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008240	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012680	biolink:NamedThing	nephronophthisis 7	Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.	mondoexuq1wtf	nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis type 7|NPHP7|nephronophthisis 7|GLIS2 nephronophthisis (disease)											DOID:0111116|MESH:C566930|OMIM:611498|UMLS:C1969092																		owl:Class
HGNC:29450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:409	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012527	biolink:NamedThing	cataract 11 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.	mondoexuq1wtf	CTRCT11|early-onset non-syndromic cataract caused by mutation in PITX3|cataract, posterior polar, 4|CTPP4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|posterior polar cataract 4|cataract 11, multiple types|Cpp4|CPP4|PITX3 early-onset non-syndromic cataract|Posterior polar cataract, 4											ICD10:Q12.0|DOID:0110249|GARD:0010228|MESH:C535344|OMIM:610623																		owl:Class
HGNC:9006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NBO:0000551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0046146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012743	biolink:NamedThing	Brugada syndrome 4	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.	mondoexuq1wtf	Brugada syndrome 4|CACNB2 Brugada syndrome|BRGDA4|Brugada syndrome caused by mutation in CACNB2|Brugada syndrome type 4											ICD10:I49.8|DOID:0110221|MESH:C567508|GARD:0010362|UMLS:C2678477|OMIM:611876														https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4				owl:Class
HGNC:1402	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12572	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30800	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0038023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
SO:0001254	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7794	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12593	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:787	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0055074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8851	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7150	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1248	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29189	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9413	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009235	biolink:NamedThing	familial benign flecked retina	Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	mondoexuq1wtf	FRFB|FLECK retina, familial benign											ICD10:H35.5|DOID:0111677|MESH:C565564|UMLS:C1856718|Orphanet:363989|OMIM:228980																		owl:Class
HGNC:9038	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004786	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6469	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004917	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014590	biolink:NamedThing	congenital myasthenic syndrome 18	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.	mondoexuq1wtf	CMS18|SNAP25 congenital myasthenic syndrome|congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, type 18|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|myasthenic syndrome, congenital, 18|congenital myasthenic syndrome caused by mutation in SNAP25											OMIM:616330|DOID:0110683|UMLS:C4225364																		owl:Class
HGNC:11132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000272	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0001055	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001184	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr10	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005194	biolink:NamedThing	Rotavirus infection	Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.	mondoexuq1wtf	Rotavirus infectious disease|Rotavirus caused disease or disorder|Rotavirus disease or disorder											EFO:0002622|UMLS:C0035869|MESH:D012400|ICD9:078.89|SCTID:18624000																		owl:Class
NCBITaxon:10912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29170	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2867	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20093	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001927	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011804	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 2B	Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	mondoexuq1wtf	caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome type IIB|autoimmune lymphoproliferative syndrome, type 2B|Ceds|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|CASP8 autoimmune lymphoproliferative syndrome|caspase eight deficiency state|caspase 8 deficiency|caspase-8 deficiency|autoimmune lymphoproliferative syndrome with recurrent viral infections|ALPS with recurrent viral infections|ALPS2B|CEDS											OMIM:607271|ICD10:D47.9|GARD:0009796|SCTID:722290008|DOID:0110116|Orphanet:275517																		owl:Class
HGNC:1509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:138949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11167	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007766	biolink:NamedThing	Morgagni-Stewart-Morel syndrome	Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.	mondoexuq1wtf	MSM syndrome|hyperostosis frontalis interna, obesity, shortness and cognitive impairment|hyperostosis frontalis interna|Morgagni-Stewart-Morel syndrome											Orphanet:77296|MESH:D006957|OMIM:144800|GARD:0008593|SCTID:82054006|NCIT:C84772|ICD10:M85.2														https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome				owl:Class
MONDO:0010091	biolink:NamedThing	Cold-induced sweating syndrome 1	Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	mondoexuq1wtf	cold-induced sweating syndrome type 1|cold-induced sweating syndrome 1|CRISPONI/cold-induced sweating syndrome 1|Crisponi syndrome|CISS1|Crisponi/cold-induced sweating syndrome 1|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|Sohar-Crisponi syndrome											DOID:0080329|Orphanet:1545|GARD:0001611|ICD10:G90.8|SCTID:725097006|OMIM:272430|MESH:C536214																		owl:Class
HGNC:2364	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8941	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16266	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0000781	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013437	biolink:NamedThing	retinitis pigmentosa 43	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.	mondoexuq1wtf	retinitis pigmentosa type 43|retinitis pigmentosa 43|PDE6A retinitis pigmentosa|RP43|retinitis pigmentosa caused by mutation in PDE6A											UMLS:C3151139|ICD10:H35.5|DOID:0110379|OMIM:613810																		owl:Class
HGNC:8785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0060037	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0041186	biolink:NamedThing	Rowell syndrome	A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.	mondoexuq1wtf	lupus erythematosus and erythema multiforme-like syndrome|Rowell's syndrome											SCTID:238926009|UMLS:C0406637																		owl:Class
MONDO:0006545	biolink:NamedThing	erythema multiforme	Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).	mondoexuq1wtf	EM|erythema multiforme bullosum|erythema polymorphe, erythema multiforme type|Dermatostomatitis, erythema multiforme type|Herpes iris, erythema multiforme type|febrile mucocutaneous syndrome											ICD10:L51|COHD:132702|ICD9:695.10|DOID:0050185|SCTID:36715001|NCIT:C3024|GARD:0006372|ICD9:695.1|MESH:D004892|UMLS:C0014742|EFO:1000694														https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme				owl:Class
HP:0003560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001503	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C37109	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:41283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014117	biolink:NamedThing	Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).	mondoexuq1wtf	Charcot-Marie-Tooth disease, type 4B3|SBF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|CMT4B3|Charcot-Marie-Tooth disease with focally folded myelin											UMLS:C3695063|ICD10:G60.0|Orphanet:363981|OMIM:615284|DOID:0110194|SCTID:763345008																		owl:Class
HGNC:10542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21734	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9587	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010929	biolink:NamedThing	craniosynostosis 4	Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.	mondoexuq1wtf	craniosynostosis caused by mutation in ERF|ERF craniosynostosis|craniosynostosis type 4|craniosynostosis 4|CRS4|ERF-related craniosynostosis											UMLS:C3806917|OMIM:600775																		owl:Class
NCBITaxon:63330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4138	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020602	biolink:NamedThing	Simpson-Golabi-Behmel syndrome type 1	Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.	mondoexuq1wtf	GPC3 Simpson-Golabi-Behmel syndrome|DGSX Golabi-Rosen syndrome|Simpson-Golabi-Behmel syndrome type 1|Simpson dysmorphia syndrome|Sgbs|Golabi-Rosen syndrome|bulldog syndrome|SGBS1|dysplasia gigantism syndrome, X-linked|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Simpson-Golabi-Behmel syndrome, type 1											OMIM:312870|DOID:0060248																		owl:Class
HGNC:4451	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12830	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5208	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7863	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28927	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:1990542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005183	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6929	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021011	biolink:NamedThing	hereditary progressive chorea without dementia		mondoexuq1wtf	BHC|chorea, benign hereditary|hereditary progressive chorea without dementia|BCH											OMIM:118700																		owl:Class
HGNC:11825	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000093	biolink:NamedThing	Schistosoma mansoni infection, susceptibility		mondoexuq1wtf												DC:0000398																		owl:Class
MONDO:0007543	biolink:NamedThing	enolase, sperm specific		mondoexuq1wtf	enolase, sperm specific|ENO4											OMIM:131375																		owl:Class
HGNC:31670	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030895	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004345	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002437	biolink:NamedThing	dehydration polycythemia	Polycythemia resulting from dehydration.	mondoexuq1wtf												NCIT:C27310|UMLS:C0856815|DOID:2833																		owl:Class
HP:0001944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005720	biolink:NamedThing	cowpox	A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.	mondoexuq1wtf	yaba											SCTID:70090004|MESH:D015605|ICD9:051.01|DOID:8956|EFO:0007225|UMLS:C0010232|ICD10:B08.010																		owl:Class
NCBITaxon:10243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11634	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0000224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1173061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001728	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12736	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006744	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:00000073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11055	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19750	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:574145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011881	biolink:NamedThing	keratosis palmoplantaris striata 3	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.	mondoexuq1wtf	PPKS3|striate palmoplantar keratoderma 3|keratosis palmoplantaris striata III|KRT1 striate palmoplantar keratoderma|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma, palmoplantar, striate form 3|keratoderma palmoplantar striate form 3|keratosis palmoplantaris striata type 3											GARD:0009173|UMLS:C2931123|OMIM:607654|MESH:C536163														https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3				owl:Class
HGNC:5286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2560525	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010585	biolink:NamedThing	X-linked hypohidrotic ectodermal dysplasia	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.	mondoexuq1wtf	Xlhed|ectodermal dysplasia 1|X-linked anhidrotic ectodermal dysplasia|Christ-Siemens-Touraine syndrome|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|ectodermal dysplasia, anhidrotic, X-linked|ectodermal dysplasia 1, hypohidrotic, X-linked|hypohidrotic ectodermal dysplasia, X-linked|hypohidrotic ectodermal dysplasia X-linked|Eda1|XHED|CST syndrome|ectodermal dysplasia, hypohidrotic, 1|anhidrotic ectodermal dysplasia X-linked											ICD10:Q82.4|GARD:0010427|Orphanet:181|OMIM:305100																		owl:Class
HGNC:3157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013812	biolink:NamedThing	Baraitser-winter syndrome 2	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.	mondoexuq1wtf	Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-Winter syndrome type 2|BRWS2|Baraitser-WINTER syndrome 2|Baraitser-winter syndrome 2|ACTG1 Baraitser-Winter cerebrofrontofacial syndrome											UMLS:C3281235|OMIM:614583																		owl:Class
HGNC:144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26624	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23452	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000664	biolink:NamedThing	apperceptive agnosia	An agnosia that is a loss of the ability to distinguish visual shapes.	mondoexuq1wtf												DOID:0060134																		owl:Class
GO:0007632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:37020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013518	biolink:NamedThing	pituitary hormone deficiency, combined, 6	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.	mondoexuq1wtf	pituitary hormone deficiency, combined, type 6|pituitary hormone deficiency, combined, 6|CPHD6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|OTX2 combined pituitary hormone deficiencies, genetic form											UMLS:C3151440|OMIM:613986																		owl:Class
HGNC:2417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2536	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10335	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0016392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10706	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:1901999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014019	biolink:NamedThing	dystonia 24	Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.	mondoexuq1wtf	cranio-cervical dystonia with laryngeal and upper-limb involvement|dystonic disorder caused by mutation in ANO3|ANO3 dystonic disorder|DYT24|DYT-ANO3|dystonia type 24|dystonia 24					Editor note: DO classifies as purely focal						UMLS:C3554374|ICD10:G24.8|Orphanet:420485|DOID:0090052|EFO:0009040|OMIM:615034																		owl:Class
HGNC:14004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11854	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013724	biolink:NamedThing	bacteremia, susceptibility to, 2	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.	mondoexuq1wtf	CISH bacteremia, susceptibility|bacteremia, susceptibility to, type 2|bacteremia, susceptibility to, 2|BACTS2|bacteremia, susceptibility caused by mutation in CISH											OMIM:614383																		owl:Class
HGNC:1984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6937	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7715	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23719	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012186	biolink:NamedThing	Fanconi anemia complementation group I	Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.	mondoexuq1wtf	Fanconi anemia, complementation group I|FANCI|Fanconi anemia complementation group type I|Fanconi Anemia, complementation Group 1|Fanconi Anemia, complementation group type 1											DOID:0111091|UMLS:C1836861|OMIM:609053|NCIT:C129026|MESH:C563802																		owl:Class
HGNC:25568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19440	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004907	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10906	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013538	biolink:NamedThing	alpha-2-macroglobulin deficiency		mondoexuq1wtf	A2MD|alpha-2-macroglobulin deficiency|ALPHA-2-macroglobulin deficiency											UMLS:C3279661|MESH:C566304|OMIM:614036																		owl:Class
HGNC:7	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2917	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:4751	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013979	biolink:NamedThing	primary ciliary dyskinesia 19	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.	mondoexuq1wtf	ciliary dyskinesia, primary, 19|LRRC6 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 19|CILD19|primary ciliary dyskinesia 19 with or without situs inversus|primary ciliary dyskinesia caused by mutation in LRRC6|primary ciliary dyskinesia type 19|ciliary dyskinesia, primary, 19, with or without situs inversus											DOID:0110608|ICD10:Q34.8|OMIM:614935|UMLS:C3543826																		owl:Class
HGNC:16725	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21863	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29086	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036266	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012946	biolink:NamedThing	intellectual disability, autosomal dominant 3	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.	mondoexuq1wtf	mental retardation, autosomal dominant 3|autosomal dominant non-syndromic intellectual disability 3|intellectual disability, autosomal dominant 3|CDH15 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|MRD3|intellectual disability, autosomal dominant type 3|mental retardation, autosomal dominant type 3|autosomal dominant intellectual disability 3											MESH:C567241|DOID:0070033|OMIM:612580|UMLS:C2675488																		owl:Class
HGNC:1754	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6554	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0030859	biolink:NamedThing	COACH syndrome 2		mondoexuq1wtf	COACH2											OMIM:619111																		owl:Class
HGNC:11040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0014032	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20340	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001920	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003712	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000657	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:186817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29536	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011912	biolink:NamedThing	autosomal recessive nonsyndromic deafness 37	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 37|autosomal recessive deafness 37|DFNB37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal recessive 37|MYO6 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 37											ICD10:H90.3|MESH:C564331|DOID:0110495|UMLS:C1843028|OMIM:607821																		owl:Class
HGNC:7605	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:408	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013541	biolink:NamedThing	complex cortical dysplasia with other brain malformations 1	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.	mondoexuq1wtf	cortical dysplasia, complex, with other brain malformations 1|TUBB3 complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 1|CDCBM1|cortical dysplasia, Complex, with Other brain malformations type 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation|complex cortical dysplasia with other brain malformations caused by mutation in TUBB3											GARD:0013032|ICD10:Q04.3|Orphanet:300570|OMIM:614039|DOID:0090137|UMLS:CN203402																		owl:Class
MONDO:0009863	biolink:NamedThing	BH4-deficient hyperphenylalaninemia A	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.	mondoexuq1wtf	hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalanemia, BH4-deficient, A|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|6-pyruvoyl tetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, type a|HPABH4A|PTS deficiency|hyperphenylalaninemia, BH4-deficient A|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency											MESH:C535325|OMIM:261640|UMLS:C0878676|SCTID:237914002|ICD10:E70.1|Orphanet:13|GARD:5682|NCIT:C138171|GARD:0005682|DOID:0090106																		owl:Class
HGNC:9689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016289	biolink:NamedThing	malignant germ cell tumor of cervix uteri	A malignant germ cell tumor that involves the uterine cervix.	mondoexuq1wtf	cervical germ cell cancer|germ cell cancer of cervix uteri|germ cell cancer of the cervix uteri|cervical malignant germ cell tumor|uterine cervix malignant germ cell tumor|malignant germ cell tumor of the cervix uteri											ICD10:C53.1|UMLS:CN201079|ICD10:C53.8|Orphanet:213837|ICD10:C53.0																		owl:Class
NCBITaxon:4890	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0033490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013726	biolink:NamedThing	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1		mondoexuq1wtf	encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission 1|EMPF1|lethal encephalopathy due to mitochondrial and peroxisomal fission defect											OMIM:614388|Orphanet:330050|DOID:0070347|ICD10:G31.8|UMLS:C3280660																		owl:Class
HGNC:23505	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019614	biolink:NamedThing	pituitary deficiency due to Rathke's pouch cysts		mondoexuq1wtf	pituitary deficiency due to Rathke's cleft cysts											Orphanet:91350|ICD10:E23.0																		owl:Class
UBERON:0005356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:4753	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29812	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008274	biolink:NamedThing	polyostotic fibrous dysplasia	Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.	mondoexuq1wtf	fibrous dysplasia of bone|polyostotic fibrous dysplasia of bone											Orphanet:93276|NCIT:C34610|ICD10:Q78.1|ICD9:756.54|SCTID:36517007|MESH:D005359|MedDRA:10036120																		owl:Class
HGNC:5320	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000007050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007546	biolink:NamedThing	myeloproliferative disorder, chronic, with eosinophilia		mondoexuq1wtf	eosinophils, malignant proliferation of|myeloproliferative disorder, chronic, with eosinophilia|MPE											OMIM:131440|DOID:0111344|UMLS:C1851585|MESH:C565054																		owl:Class
CHEBI:16874	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:31285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7127	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1891762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017863	biolink:NamedThing	digitalis poisoning	Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.	mondoexuq1wtf												SCTID:12876009|ICD10:T46.0|UMLS:CN203897|Orphanet:31828																		owl:Class
CHEBI:4551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000009132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003128	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4400	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002465	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012656	biolink:NamedThing	lethal congenital contracture syndrome 3	Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.	mondoexuq1wtf	PIP5K1C lethal congenital contracture syndrome|LCCS3|Israeli Bedouin type B multiple contracture syndrome|lethal congenital contracture syndrome type 3|lethal congenital contracture syndrome 3|multiple contracture syndrome, Israeli Bedouin type B|lethal congenital contracture syndrome caused by mutation in PIP5K1C											SCTID:715420005|GARD:0012644|UMLS:C4275144|Orphanet:137783|OMIM:611369|MESH:C566961|UMLS:C1969655|ICD10:Q68.8|DOID:0060653														https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3				owl:Class
HGNC:8996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013978	biolink:NamedThing	autosomal recessive nonsyndromic deafness 70	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.	mondoexuq1wtf	autosomal recessive nonsyndromic deafness type 70|deafness, autosomal recessive 70|DFNB70|autosomal recessive deafness 70|deafness, autosomal recessive type 70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|PNPT1 autosomal recessive nonsyndromic deafness											OMIM:614934|DOID:0110521|UMLS:C1824925|ICD10:H90.3																		owl:Class
HGNC:16499	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1659	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1375	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0001566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035130	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008379	biolink:NamedThing	retinitis pigmentosa 10	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.	mondoexuq1wtf	RP10|retinitis pigmentosa 10|retinitis pigmentosa caused by mutation in IMPDH1|retinitis pigmentosa type 10|IMPDH1 retinitis pigmentosa											DOID:0110388|ICD10:H35.5|MESH:C566715|UMLS:C1867299|OMIM:180105																		owl:Class
MONDO:0010598	biolink:NamedThing	glycogen storage disease IXa	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene.	mondoexuq1wtf	glycogen storage disease VIII, formerly|GSD VIII, formerly|GSD9A1|glycogen storage disease type IXa|glycogenosis type 9A|glycogen storage disease IXa1|glycogen storage disease type 9A|liver glycogenosis, X-linked, type 1|GSD9A|GSD type 9A|GSD IXa2|phosphorylase kinase deficiency of liver|hepatic phosphorylase kinase deficiency|liver glycogenosis, X-linked, type 2|glycogen storage disease type VIII|glycogen storage disease caused by mutation in PHKA2|glycogenosis type IXa|GSD VIII|glycogen storage disease VIII|glycogen storage disease IXa2|PHKA2 glycogen storage disease|glycogenosis type 8|glycogen storage disease 8|GSD type IXa|hepatic glycogen phosphorylase kinase deficiency|PHKA2-related glycogen storage disease type IX|glycogenosis type VIII|PYKL											DOID:0111042|DOID:2751|OMIM:306000|EFO:1000952|MedDRA:10053242|SCTID:41527003|GARD:0006538|MESH:D006015|MESH:C564421|UMLS:C0017927|ICD10:E74.0														https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8				owl:Class
HGNC:8926	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000382	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000050388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6309	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21645	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010864	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6139	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9891	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23094	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:543	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:32456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008946	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007966	biolink:NamedThing	susceptibility to uveal melanoma		mondoexuq1wtf	melanoma, uveal											OMIM:155720																		owl:Class
HGNC:491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10545	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:69773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10549	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009311	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11779	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:87	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000169	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6462	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30500	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002137	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30696	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24268	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013771	biolink:NamedThing	transient infantile hypertriglyceridemia and hepatosteatosis		mondoexuq1wtf	HTGTI|hypertriglyceridemia, transient infantile|transient infantile hypertriglyceridemia and fatty liver											Orphanet:300293|OMIM:614480|UMLS:C3280953																		owl:Class
HGNC:4455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005630	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006589	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20134	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:757	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009683	biolink:NamedThing	autosomal recessive limb-girdle muscular dystrophy type 2H	Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.	mondoexuq1wtf	limb-girdle muscular dystrophy due to TRIM32 deficiency|muscular dystrophy, Hutterite type|TRIM32 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2H|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|limb-girdle muscular dystrophy type 2H|sarcotubular myopathy|muscular dystrophy Hutterite type|Sarcotubular myopathy|LGMD2H|muscular dystrophy limb-girdle type 2H											SCTID:43226001|ICD10:G71.0|UMLS:C0270968|GARD:0003844|Orphanet:1878|ICD9:359.89|MESH:C535897|OMIM:254110|DOID:0110282																		owl:Class
HP:0030682	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4162	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006520	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0023035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6183	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17168	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19688	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10368	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30587	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013000	biolink:NamedThing	porphyria due to ALA dehydratase deficiency	Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.	mondoexuq1wtf	porphyria, acute hepatic|acute hepatic porphyria|Delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency|ALAD deficiency|ALA dehydratase deficiency pophyria|aminolevulinate dehydratase deficiency porphyria|porphyria of Doss|porphyria, ALAD|ALAD porphyria|Lead poisoning, susceptibility to|porphyria due to delta-aminolevulinate dehydratase deficiency|Doss porphyria|5-aminolevulinic acid dehydratase deficiency porphyria|porphyria due to ALAD deficiency											ICD10:E80.2|MESH:C562618|GARD:0004445|OMIM:612740|NCIT:C133887|Orphanet:100924														https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria				owl:Class
HGNC:395	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004877	biolink:NamedThing	transient neonatal thrombocytopenia		mondoexuq1wtf												ICD9:776.1|DOID:9771|UMLS:C0158991|SCTID:23205009|COHD:435076|ICD10:P61.0																		owl:Class
UBERON:0001473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001000	biolink:NamedThing	mixed mineral dust pneumoconiosis	Pneumoconiosis caused by the inhalation of mixed mineral dust particles.	mondoexuq1wtf	pneumoconiosis from mineral dust|mineral duct pneumoconiosis|mixed mineral dust pneumoconiosis|mineral dust pneumoconiosis											UMLS:C0340184|DOID:10319|SCTID:233759002|ICD9:503|NCIT:C27559																		owl:Class
ENVO:02000100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000062	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0016250	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012729	biolink:NamedThing	erythrocytosis, familial, 4	Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.	mondoexuq1wtf	erythrocytosis, familial, type 4|familial polycythemia caused by mutation in EPAS1|erythrocytosis, familial, 4|ECYT4|EPAS1 familial polycythemia											DOID:0080339|UMLS:C2673187|MESH:C567086|OMIM:611783																		owl:Class
HGNC:3374	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0023230	biolink:NamedThing	Ghose-Sachdev-Kumar syndrome		mondoexuq1wtf	bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma											UMLS:C2974016|GARD:0002467|MESH:C537803														https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome				owl:Class
HGNC:17642	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:37	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8636	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9453	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009868	biolink:NamedThing	glycogen storage disease IXb	Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.	mondoexuq1wtf	glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease IXb|GSD9B|GSD type IXb|GSD IXb|glycogen storage disease caused by mutation in PHKB|glycogen storage disease type 9B|GSD due to liver and muscle phosphorylase kinase deficiency|glycogenosis type 9B|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|GSD type 9B|PHKB glycogen storage disease|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease type IXb|PHKB-related glycogen storage disease type IX|glycogenosis type IXb											ICD10:E74.0|MESH:C563008|UMLS:C0543514|Orphanet:79240|OMIM:261750|DOID:0111041																		owl:Class
GO:0006570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005354	biolink:NamedThing	chronic hepatitis C virus infection	Chronic form of hepatitis C infection.	mondoexuq1wtf	hepatitis C infection, chronic|hepatitis C, chronic|chronic Hepatitis C											MESH:D019698|EFO:0004220|COHD:198964|ICD9:070.44																		owl:Class
UBERON:0001645	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3672	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11363	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032623	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 18		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18|MC1DN18											OMIM:618240																		owl:Class
HGNC:29918	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002615	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014727	biolink:NamedThing	immunodeficiency 45		mondoexuq1wtf	IMD45|immunodeficiency 45|immunodeficiency type 45											UMLS:C4225252|OMIM:616669																		owl:Class
HGNC:5433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006576	biolink:NamedThing	Ludwig's angina	Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)	mondoexuq1wtf	Ludwig angina|mouth floor cellulitis (disease)|cellulitis of floor of mouth|cellulitis (disease) of mouth floor											UMLS:C3247204|SCTID:196542004|DOID:4558|UMLS:C0024081|Wikipedia:Ludwig's_angina|MESH:D008158|EFO:1000730|ICD9:528.3																		owl:Class
UBERON:0003679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011383	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 2A	A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	mondoexuq1wtf	CASP10 autoimmune lymphoproliferative syndrome|type 2 ALPS|autoimmune lymphoproliferative syndrome-CASP10 variant|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|autoimmune lymphoproliferative syndrome, type 2|autoimmune lymphoproliferative syndrome, type IIA|type 2 autoimmune lymphoproliferative syndrome|ALPS2A|autoimmune lymphoproliferative syndrome type IIA|ALPS-CASP10|autoimmune lymphoproliferative syndrome, type 2A											DOID:0110115|UMLS:C1858968|UMLS:C1519709|MESH:C565833|NCIT:C39576|OMIM:603909|ICD10:D47.9																		owl:Class
HGNC:1500	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007300	biolink:NamedThing	cerebral sarcoma	A sarcoma involving a telencephalon.	mondoexuq1wtf	sarcoma of telencephalon|telencephalon sarcoma|cerebral sarcoma											UMLS:C1861714|MESH:C537946|GARD:0010073|OMIM:117600														https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma				owl:Class
HGNC:20914	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4026	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26821	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22140	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043020	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024534	biolink:NamedThing	Dowling-Degos disease 1	Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.	mondoexuq1wtf	DDD|KRT5 Dowling-Degos disease|Dowling-Degos disease 1|reticular pigment anomaly of flexures|DDD1|Dowling-Degos disease caused by mutation in KRT5											OMIM:179850|UMLS:C3714534																		owl:Class
HGNC:6442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5807	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000615	biolink:NamedThing	progesterone-receptor positive breast cancer		mondoexuq1wtf						Editor note: check why not in NCIT; note also that triple-positive should be classified here						DOID:0060077																		owl:Class
NCIT:C15496	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11039	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16369	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:499556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014756	biolink:NamedThing	tremor, hereditary essential, 5	Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.	mondoexuq1wtf	TENM4 essential tremor|tremor, hereditary essential, type 5|tremor, hereditary essential, 5|essential tremor caused by mutation in TENM4|ETM5|tremor, hereditary essential, 5; ETM5											OMIM:616736|DOID:0111432|UMLS:C4225223																		owl:Class
HGNC:29945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8729	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000501	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NBO:0000034	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014729	biolink:NamedThing	hereditary spastic paraplegia 75	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.	mondoexuq1wtf	hereditary spastic paraplegia caused by mutation in MAG|spastic paraplegia 75, autosomal recessive|autosomal recessive spastic paraplegia type 75|MAG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia type 75|SPG75											DOID:0110820|EFO:0009018|OMIM:616680|UMLS:C4225250|Orphanet:459056|ICD10:G11.4																		owl:Class
HGNC:6783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7167	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3687	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15505	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5864	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3363	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010659	biolink:NamedThing	FRAXE intellectual disability	FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.	mondoexuq1wtf	fragile site, folic acid type|fragile XE syndrome|X-linked intellectual disability associated with fragile site FRAXE|FRAXE syndrome|mental retardation, X-linked, associated with fragile site FRAXE|intellectual disability, X-linked, associated with fragile site FRAXE|FRAXE mental retardation syndrome|X-linked mental retardation associated with fragile site FRAXE|FRAXE intellectual disability syndrome|intellectual disability associated with fragile site FRAXE											SCTID:716709002|OMIM:309548|GARD:0002378|UMLS:C0751157|Orphanet:100973														https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome				owl:Class
HGNC:3776	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005121	biolink:NamedThing	Enterococcus faecalis infection	A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.	mondoexuq1wtf	Enterococcus faecalis caused disease or disorder|Enterococcus faecalis disease or disorder|Enterococcus faecalis infectious disease											EFO:0000780																		owl:Class
NCBITaxon:1351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0060764	biolink:NamedThing	tetraamelia syndrome 1		mondoexuq1wtf	TETAMS1|tetraamelia syndrome, autosomal recessive|tetraamelia syndrome 1											OMIM:273395																		owl:Class
HGNC:12782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29426	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13533	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006807	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000926	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008676	biolink:NamedThing	white sponge nevus 1	Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.	mondoexuq1wtf	WHITE sponge NEVUS 1|White sponge Nevus of Cannon|White sponge Nevus type 1|KRT4 hereditary mucosal leukokeratosis|WSN1|leukokeratosis, hereditary mucosal|white sponge nevus 1|hereditary mucosal leukokeratosis caused by mutation in KRT4											UMLS:C4011926|OMIM:193900																		owl:Class
HGNC:6441	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5465	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5293	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003401	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14074	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:46580	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26927	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000031	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8091	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016090	biolink:NamedThing	late-infantile/juvenile Krabbe disease		mondoexuq1wtf	Krabbe disease, late-onset											Orphanet:206443|SCTID:41142009|UMLS:CN200855|ICD10:E75.2																		owl:Class
HP:0100022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14124	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14880	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2860	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19661	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011735	biolink:NamedThing	hyper-IgM syndrome type 3	A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.	mondoexuq1wtf	CD40 hyper-IgM syndrome|CD40 deficiency|hyper-IgM syndrome 3|hyper IgM syndrome 3|HIGM3|hyper-IgM syndrome due to CD40 deficiency|type 3 hyper-IgM immunodeficiency|hyper-IgM syndrome caused by mutation in CD40|immunodeficiency with hyper IgM type 3|immunodeficiency with hyper-IgM, type 3|immunodeficiency with hyper-IgM type 3											GARD:0010579|ICD10:D80.5|Orphanet:101090|DOID:0060023|OMIM:606843														https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3				owl:Class
HGNC:11919	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000053	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008038	biolink:NamedThing	ataxia-pancytopenia syndrome	Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	mondoexuq1wtf	ataxia-pancytopenia syndrome|ATXPC|myelocerebellar disorder											UMLS:C1327919|SCTID:768556005|GARD:0003865|ICD10:D61.0|OMIM:159550|Orphanet:2585|MESH:C563233																		owl:Class
HGNC:1349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016330	biolink:NamedThing	non-familial hypertrophic cardiomyopathy	An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired hypertrophic cardiomyopathy											Orphanet:217598|UMLS:CN226903																		owl:Class
HP:0011387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14544	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24039	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25223	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6161	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000016654	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:84529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014443	biolink:NamedThing	Bardet-Biedl syndrome 15	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.	mondoexuq1wtf	Bardet-Biedl syndrome caused by mutation in WDPCP|Bardet-Biedl syndrome 15|Bardet-Biedl syndrome type 15|WDPCP Bardet-Biedl syndrome|BBS15											DOID:0110137|UMLS:C3150127|ICD10:Q87.89|OMIM:615992																		owl:Class
HGNC:28027	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C17214	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004765	biolink:NamedThing	intrinsic asthma	An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.	mondoexuq1wtf												DOID:9360|COHD:4145497|ICD9:493.1|ICD10:J45|UMLS:C0155880|SCTID:266361008																		owl:Class
HP:0002883	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002293	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014048	biolink:NamedThing	Cowden syndrome 6	Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.	mondoexuq1wtf	Cowden disease caused by mutation in AKT1|CWS6|AKT1 Cowden disease|Cowden syndrome 6|Cowden syndrome type 6											OMIM:615109|UMLS:C3554519																		owl:Class
HGNC:4331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17755	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005132	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9446	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006598	biolink:NamedThing	phototoxic dermatitis	Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.	mondoexuq1wtf	photosensitive dermatitis|Photosensitisation reaction|photosensitivity reaction|photosensitiveness|Photodermatitis											EFO:1000753|SCTID:53597009|UMLS:C0162830|DOID:4407|NCIT:C4816|Wikipedia:Photodermatitis|MESH:D017484																		owl:Class
HGNC:10050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:469	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011346	biolink:NamedThing	xanthinuria type II	Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.	mondoexuq1wtf	xanthinuria, type II|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthinuria type 2|type 2 xanthinuria|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|type II xanthinuria|xanthinuria, type 2|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|XAN2|XDH and AOX dual deficiency											GARD:0005620|Orphanet:93602|UMLS:C1863688|MESH:C566358|OMIM:603592|ICD10:E79.8														https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2				owl:Class
HGNC:18234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013490	biolink:NamedThing	megalencephalic leukoencephalopathy with subcortical cysts 2A		mondoexuq1wtf	megalencephalic leukoencephalopathy with subcortical cysts 2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|MLC2A											UMLS:C3151355|OMIM:613925|DOID:0080318																		owl:Class
HGNC:26361	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0041403	biolink:NamedThing	toxic amblyopia	A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.	mondoexuq1wtf	tobacco amblyopia|nutritional optic neuropathy											SCTID:30483005																		owl:Class
UBERON:0003707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012730	biolink:NamedThing	aortic aneurysm, familial thoracic 6	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.	mondoexuq1wtf	aortic aneurysm, familial thoracic type 6|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|aortic aneurysm, familial thoracic 6|AAT6											UMLS:C2673186|MESH:C567085|OMIM:611788																		owl:Class
MONDO:0013917	biolink:NamedThing	nephronophthisis 15	Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.	mondoexuq1wtf	CEP164 nephronophthisis (disease)|nephronophthisis type 15|NPHP15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164											DOID:0111123|UMLS:C3541853|OMIM:614845																		owl:Class
HGNC:29182	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009165	biolink:NamedThing	Aicardi-Goutieres syndrome 1	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.	mondoexuq1wtf	encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1|TREX1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in TREX1|AGS1|Pseudotoxoplasmosis syndrome|Ags|Aicardi-Goutieres syndrome type 1|Aicardi-Goutieres syndrome 1, autosomal dominant|Cree encephalitis											OMIM:225750|UMLS:C0796126|GARD:0010893																		owl:Class
HGNC:12269	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980476	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12682	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014894	biolink:NamedThing	Meier-Gorlin syndrome 7	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.	mondoexuq1wtf	Meier-Gorlin syndrome 7; MGORS7|Meier-Gorlin syndrome type 7|CDC45 Meier-Gorlin syndrome|Meier-Gorlin syndrome 7|Meier-Gorlin syndrome caused by mutation in CDC45|MGORS7											OMIM:617063|UMLS:C4310738|DOID:0080518																		owl:Class
HGNC:1739	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043227	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013042	biolink:NamedThing	atypical hemolytic-uremic syndrome with B factor anomaly		mondoexuq1wtf	hemolytic-uremic syndrome without diarrhea with B factor anomaly|aHUS, susceptibility to, 4|aHUS4|AHUS4|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic uremic syndrome, atypical, susceptibility to, 4|D-HUS with B factor anomaly|atypical HUS with B factor anomaly											OMIM:612924|ICD10:D58.8|Orphanet:93578																		owl:Class
GO:0035898	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014409	biolink:NamedThing	intellectual disability, autosomal recessive 44	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive 44|mental retardation, autosomal recessive 44|mental retardation, autosomal recessive type 44|MRT44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|intellectual disability, autosomal recessive type 44|METTL23 autosomal recessive non-syndromic intellectual disability											OMIM:615942|UMLS:C4014745																		owl:Class
HGNC:26988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014007	biolink:NamedThing	Aicardi-Goutieres syndrome 6	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.	mondoexuq1wtf	Adar Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 6|AGS6|Aicardi-Goutieres syndrome type 6|Aicardi-Goutieres syndrome caused by mutation in Adar|Aicardi-Goutieres syndrome caused by mutation in ADAR|ADAR Aicardi-Goutieres syndrome											OMIM:615010|UMLS:C3539013																		owl:Class
MONDO:0020797	biolink:NamedThing	decompression sickness	A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.	mondoexuq1wtf	caisson disease|divers' paralysis|Caisson Diseases|Divers' paralysis|bends|Compressed air disease|Decompression sickness|Divers' palsy|Caisson Disease|divers' palsy|decompression sickness|Compressed-air disease|Disease, Caisson|CAISSON DIS|Sickness, Decompression|compressed-air disease|The bends|Bends|the bends|Rapture of the deep syndrome|Caisson disease|Decompression Sickness|Diseases, Caisson											MESH:D003665|SCTID:89684003|ICD9:993.3|UMLS:C0011119																		owl:Class
ECTO:4000025	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6137	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008520	biolink:NamedThing	brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	mondoexuq1wtf	brachydactyly elbow wrist dysplasia|LIEBENBERG syndrome|brachydactyly with Joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|Liebenberg syndrome|carpal synostosis with dysplastic elbow joints and brachydactyly|LBNBG|brachydactyly with joint dysplasia|brachydactyly-joint dysplasia syndrome											SCTID:764437006|GARD:0000966|ICD10:Q73.8|MESH:C566090|Orphanet:1275|UMLS:C1861313|OMIM:186550														https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia				owl:Class
HGNC:9016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:37227	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000238	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004381	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25640	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0098856	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003552	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013216	biolink:NamedThing	Diamond-Blackfan anemia 9	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.	mondoexuq1wtf	DBA9|Diamond-Blackfan anemia 9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 9|Diamond-Blackfan anemia caused by mutation in RPS10											UMLS:C2750081|OMIM:613308|MESH:C567650																		owl:Class
HGNC:10383	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001833	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0051321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018616	biolink:NamedThing	central serous chorioretinopathy	Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.	mondoexuq1wtf	CSC|central serous retinopathy|central serous choroidopathy|CSCR|central serous chorioretinopathy after bone marrow transplantation											NCIT:C115124|Orphanet:443079|MESH:D056833|SCTID:312956001|UMLS:C0730328|COHD:372894|GARD:0000200|ICD10:H35.7|ICD9:362.41														https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy				owl:Class
UBERON:0035216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0071953	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0002097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018115	biolink:NamedThing	epidermal nevus syndrome	A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.	mondoexuq1wtf	Epidermal hamartoma syndrome											MedDRA:10014985|ICD10:Q85.8|Orphanet:35125|SCTID:239112008																		owl:Class
HP:0001698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:652611	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15864	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009674	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19857	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7897	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2852	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:234	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29215	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2918	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9834	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:45219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003720	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001269	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4206	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20731	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12731	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001465	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C19085	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0006685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004363	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9670	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036302	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11617	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013618	biolink:NamedThing	craniofacial anomalies and anterior segment dysgenesis syndrome		mondoexuq1wtf	CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome											UMLS:C3280099|OMIM:614195																		owl:Class
HGNC:11727	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0044817	biolink:NamedThing	acquired idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.	mondoexuq1wtf	non-Familial Idiopathic dystonia|idiopathic non-familial dystonia|acquired idiopathic torsion dystonia											SCTID:230321007|NCIT:C35438																		owl:Class
HGNC:8808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014297	biolink:NamedThing	Joubert syndrome 22	Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.	mondoexuq1wtf	Joubert syndrome 22|JBTS22|Joubert syndrome type 22|PDE6D Joubert syndrome|Joubert syndrome caused by mutation in PDE6D											DOID:0110991|UMLS:C3810278|OMIM:615665																		owl:Class
HGNC:8788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0041154	biolink:NamedThing	disease of neck of urinary bladder		mondoexuq1wtf	functional disorder of bladder neck and sphincter mechanism											SCTID:236644005																		owl:Class
UBERON:0001258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1421	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12266	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013785	biolink:NamedThing	intellectual disability, autosomal recessive 34	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.	mondoexuq1wtf	autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD|mental retardation, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive type 34|CRADD autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive 34|intellectual disability, autosomal recessive 34, with variant lissencephaly|MRT34|intellectual disability, autosomal recessive 34											OMIM:614499|NCIT:C153179|UMLS:C3281044																		owl:Class
HGNC:2340	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009827	biolink:NamedThing	pachyonychia congenita, autosomal recessive		mondoexuq1wtf	pachyonychia congenita, autosomal recessive					Editor note: we currently classify PC as AD						MESH:C538094|OMIM:260130|UMLS:C1850103																		owl:Class
HGNC:42	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11219	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23657	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6443	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4696	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7162	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:904	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000278	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014387	biolink:NamedThing	leukoencephalopathy, progressive, with ovarian failure		mondoexuq1wtf	leukoencephalopathy, progressive, with ovarian failure|LKENP											OMIM:615889|UMLS:C4014588																		owl:Class
NCBITaxon:1648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003687	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001783	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:163159	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2531	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:9989	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:368	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7710	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006878	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11158	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0017119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013644	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2O	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|autosomal dominant Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|Charcot-Marie-Tooth disease, axonal, type 2O|DYNC1H1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, axonal, type 2O|CMT2O|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth disease type 2O											ICD10:G60.0|DOID:0110175|UMLS:C3280220|GARD:0012434|Orphanet:284232|OMIM:614228																		owl:Class
MONDO:0024429	biolink:NamedThing	Alice in wonderland syndrome	A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.	mondoexuq1wtf												NCIT:C116362|MESH:D062026																		owl:Class
HP:0002076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11273	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4688	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17655	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2169971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1540	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2995	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017807	biolink:NamedThing	growing teratoma syndrome	A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.	mondoexuq1wtf	GTS											NCIT:C118370|UMLS:CN203773|Orphanet:314613|UMLS:C3891714																		owl:Class
HGNC:21244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013406	biolink:NamedThing	age related macular degeneration 6	Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.	mondoexuq1wtf	macular Degeneration, age-related, type 6|ARMD6|age-related macular degeneration caused by mutation in RAX2|RAX2 age-related macular degeneration|age related macular degeneration type 6|macular degeneration, age-related, 6											UMLS:C3151060|DOID:0110018|MESH:C563674|OMIM:613757																		owl:Class
HP:0002725	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13503	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005437	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012419	biolink:NamedThing	age related macular degeneration 7	Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.	mondoexuq1wtf	age-related macular degeneration caused by mutation in HTRA1|ARMD7|macular Degeneration, age-related, neovascular type, susceptibility to|age related macular degeneration type 7|macular Degeneration, age-related, wet type, susceptibility to|macular degeneration, age-related, 7|macular Degeneration, age-related, type 7|HTRA1 age-related macular degeneration											MESH:C565718|DOID:0110019|UMLS:C1857813|OMIM:610149																		owl:Class
HGNC:9476	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13890	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014383	biolink:NamedThing	myopathy, tubular aggregate, 2	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.	mondoexuq1wtf	tubular aggregate myopathy caused by mutation in ORAI1|TAM2|myopathy, tubular aggregate, type 2|myopathy, tubular aggregate, 2|ORAI1 tubular aggregate myopathy											UMLS:C4014557|OMIM:615883																		owl:Class
HGNC:6172	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011377	biolink:NamedThing	long QT syndrome 3	An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	mondoexuq1wtf	long QT syndrome 3|long QT syndrome 3, acquired, susceptibility to|long QT syndrome caused by mutation in SCN5A|long QT syndrome 2/3, digenic|long QT syndrome 3/6, digenic|long QT syndrome type 3|SCN5A long QT syndrome|LQT3											NCIT:C137959|MESH:C565840|UMLS:C2931401|UMLS:C1859062|ICD10:I45.8|OMIM:603830|DOID:0110646|GARD:0003286														https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3				owl:Class
HGNC:25705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25221	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:01001284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34613	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012966	biolink:NamedThing	microvascular complications of diabetes, susceptibility to, 4	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.	mondoexuq1wtf	microvascular complications of diabetes, susceptibility to, type 4|microvascular complications of diabetes, susceptibility to, 4|MVCD4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|IL1RN microvascular complications of diabetes, susceptibility|nephropathy, diabetic, susceptibility to											OMIM:612628																		owl:Class
ECTO:0000002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6831	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6342	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1915	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:17514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013587	biolink:NamedThing	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.	mondoexuq1wtf	glycogenosis due to lactate dehydrogenase H-subunit deficiency|lactate dehydrogenase B deficiency|GSD due to lactate dehydrogenase H-subunit deficiency|LDH-H subunit deficiency|LDHBD|LDH deficiency B|lactate dehydrogenase deficiency type B											MESH:C563641|GARD:0003161|ICD10:E74.0|Orphanet:284435|OMIM:614128|UMLS:C3279904														https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency				owl:Class
HGNC:6541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001907	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009051	biolink:NamedThing	cutaneous photosensitivity-lethal colitis syndrome	Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	mondoexuq1wtf	early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal											UMLS:C1857449|MESH:C536224|OMIM:219095|ICD10:L57.8|Orphanet:2881|GARD:0001633																		owl:Class
GO:0006776	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007636	biolink:NamedThing	frontorhiny	Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.	mondoexuq1wtf	isolated median cleft syndrome|isolated median cleft face syndrome|frontonasal malformation|FND1|frontonasal dysplasia|frontonasal dysplasia type 1|ALX3-related frontonasal dysplasia|median Facial cleft syndrome|frontonasal dysplasia 1|frontorhiny											OMIM:136760|Orphanet:391474|ICD10:Q75.8|GARD:0012642|NCIT:C129028																		owl:Class
HGNC:449	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4289	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0035935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007098	biolink:NamedThing	ACys amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.	mondoexuq1wtf	CST3-related cerebral amyloid angiopathy|amyloidosis 6|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|HCHWA, Icelandic type|hereditary cerebral hemorrhage with amyloidosis|CST3-related amyloidosis|amyloidosis VI|amyloidosis, Cerebroarterial, Icelandic type|cerebral hemorrhage, hereditary, with amyloidosis|hereditary cystatin C amyloid angiopathy|cystatin amyloidosis|cerebral amyloid angiopathy, CST3-related											ICD9:277.39|DOID:0070027|ICD9:437.8|ICD10:I68.0*|Orphanet:100008|SCTID:703220002|ICD10:E85.4+|OMIM:105150																		owl:Class
MONDO:0024543	biolink:NamedThing	brittle cornea syndrome 1	Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.	mondoexuq1wtf	ZNF469 brittle cornea syndrome|brittle cornea syndrome 1|Ehlers-Danlos syndrome, type Vib, formerly|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|dysgenesis Mesodermalis corneae Et sclerae|BCS1|Fragilitas oculi with Joint hyperextensibility|Ehlers-Danlos syndrome, type Vib|brittle cornea syndrome caused by mutation in ZNF469											OMIM:229200|SCTID:31798004																		owl:Class
HGNC:23216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0054842	biolink:NamedThing	polycystic kidney disease 6 with or without polycystic liver disease	Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.	mondoexuq1wtf	DNAJB11 polycystic kidney disease|PKD6|polycystic kidney disease 6 with or without polycystic liver disease|polycystic kidney disease caused by mutation in DNAJB11											OMIM:618061|UMLS:CN252647																		owl:Class
HGNC:14889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014059	biolink:NamedThing	microphthalmia, isolated, with coloboma 9	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.	mondoexuq1wtf	microphthalmia, isolated, with coloboma type 9|TENM3 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in TENM3|MCOPCB9|microphthalmia, isolated, with coloboma 9											OMIM:615145|UMLS:C3554592																		owl:Class
HGNC:29944	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11152	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8149	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14881	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016351	biolink:NamedThing	anti-HLA hyperimmunization	Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.	mondoexuq1wtf												Orphanet:2194|UMLS:CN201194|GARD:0000730														https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization				owl:Class
MONDO:0001296	biolink:NamedThing	acquired night blindness	An instance of night blindness that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired night blindness											ICD9:368.62|DOID:11491|COHD:376978|SCTID:53808001|ICD10:H53.62																		owl:Class
HGNC:11056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001361	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:27690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016984	biolink:NamedThing	nevus of Ota	Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.	mondoexuq1wtf	oculodermal melanocytosis|oculocutaneous melanocytic Nevus|Nevus fusculoceruleus ophthalmomaxillaris|Ota's Nevus											ICD10:D22.3|ICD9:224.0|UMLS:C0027961|Orphanet:263425|EFO:1000396|MESH:D009507|MedDRA:10051713|SCTID:414929001|NCIT:C7583																		owl:Class
CL:0011012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5693	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13711	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7677	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12775	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0019853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25676	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006749	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014191	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 5	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.	mondoexuq1wtf	CPVT5|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN|catecholaminergic polymorphic ventricular tachycardia type 5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|CVPT5|TRDN catecholaminergic polymorphic ventricular tachycardia											DOID:0060679|UMLS:C3809536|ICD10:I47.2|OMIM:615441																		owl:Class
HGNC:12261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6211	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30883	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018774	biolink:NamedThing	erythrokeratodermia-cardiomyopathy syndrome	A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	mondoexuq1wtf	EKC syndrome											Orphanet:476096|UMLS:CN776912														https://github.com/monarch-initiative/mondo/issues/324				owl:Class
GO:0022857	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0016632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18111	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28486	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017849	biolink:NamedThing	Siegler-Brewer-Carey syndrome	Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.	mondoexuq1wtf	fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys|Siegler Brewer Carey syndrome											Orphanet:3167|UMLS:C2931473|SCTID:721076000|MESH:C537335|GARD:0004867														https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome				owl:Class
NCBITaxon:10798	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18746	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:1001428	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17893	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8950	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6522	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003728	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006206	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1377	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001735	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0014892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7704	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0055078	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0032217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2039	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:121225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013512	biolink:NamedThing	hemoglobin H disease	Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.	mondoexuq1wtf	hemoglobin H disease|Hemoglobin H disease, Deletional|HEMOGLOBIN H disease|alpha-thalassemia intermedia|Alpha-thalassemia intermedia|HbH disease|alpha thalassemia, hemoglobin H type|hemoglobin H disease, deletional|Hemoglobin H disease, Nondeletional|HbH|Alpha-thalassemia, Hemoglobin H type											DOID:0110031|UMLS:C3161174|ICD10:D56.0|ICD9:282.49|Orphanet:93616|SCTID:48553001|OMIM:613978|MedDRA:10063435|NCIT:C95504																		owl:Class
UBERON:0000079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6518	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013536	biolink:NamedThing	heme oxygenase 1 deficiency		mondoexuq1wtf	heme oxygenase 1 deficiency|HMOX1D											UMLS:C1841651|Orphanet:562509|OMIM:614034|MESH:C564200																		owl:Class
HGNC:5013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29256	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007266	biolink:NamedThing	hypertrophic cardiomyopathy 2	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 2|hypertrophic cardiomyopathy type 2|cardiomyopathy, familial hypertrophic, type 2|CMH2|cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|TNNT2 hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy type 2											UMLS:C1861864|OMIM:115195|MESH:C566171|NCIT:C142892|DOID:0110308																		owl:Class
UBERON:0001733	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18121	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024632	biolink:NamedThing	defective phagocytic cell opsonization		mondoexuq1wtf	defective phagocytic cell opsonization											SCTID:234578009|UMLS:C0398733																		owl:Class
GO:0008228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0120054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9201	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:379	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012872	biolink:NamedThing	thrombophilia, familial, due to decreased release of tissue plasminogen activator		mondoexuq1wtf	THPH9|thrombophilia, familial, due to decreased release of tissue plasminogen activator|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator											OMIM:612348|MESH:C567341																		owl:Class
HGNC:9051	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010402	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12335	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:565	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002633	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3337	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23089	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17264	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8927	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5401	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4847	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4056	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001629	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008398	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:31604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2560526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014093	biolink:NamedThing	retinitis pigmentosa 66	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.	mondoexuq1wtf	RP66|retinitis pigmentosa type 66|retinitis pigmentosa 66|RBP3 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RBP3											DOID:0110393|ICD10:H35.5|OMIM:615233|UMLS:C3715216																		owl:Class
HGNC:9921	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11709	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4867	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15516	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:121752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6266	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012860	biolink:NamedThing	thrombophilia due to protein C deficiency, autosomal recessive		mondoexuq1wtf	Protein C deficiency, autosomal recessive|thrombophilia due to protein C deficiency, autosomal recessive|hereditary thrombophilia due to congenital protein C deficiency|THPH4|Proc deficiency, autosomal recessive|autosomal recessive hereditary thrombophilia due to protein C deficiency|thrombophilia due to PROTEIN C deficiency, autosomal recessive|autosomal recessive protein C deficiency|hereditary thrombophilia due to PC deficiency											GARD:0013041|UMLS:C2676759|OMIM:612304|MESH:C567353																		owl:Class
HP:0001945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15464	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013851	biolink:NamedThing	autosomal dominant aplasia and myelodysplasia		mondoexuq1wtf	BMFS1|autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome type 1|bone marrow failure syndrome 1											OMIM:614675|UMLS:CN203751|ICD10:D61.0|Orphanet:314399|UMLS:C3808553																		owl:Class
HGNC:11303	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013589	biolink:NamedThing	focal segmental glomerulosclerosis 6	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.	mondoexuq1wtf	focal segmental glomerulosclerosis caused by mutation in MYO1E|MYO1E focal segmental glomerulosclerosis|FSGS6|glomerulosclerosis, focal segmental, 6|focal segmental glomerulosclerosis type 6|focal segmental glomerulosclerosis 6											UMLS:C3279905|DOID:0111131|ICD10:N04.1|OMIM:614131																		owl:Class
HGNC:7599	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:562	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013051	biolink:NamedThing	autosomal recessive cutis laxa type 2B	Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	mondoexuq1wtf	ARCL2, progeroid type|cutis laxa, autosomal recessive, type IIB|autosomal recessive cutis laxa type IIB|cutis laxa, autosomal recessive type 2B|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa with progeroid features|ARCL2B|autosomal recessive cutis laxa type 2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|cutis laxa, autosomal recessive, type 2B											Orphanet:357064|ICD10CM:Q82.8|GARD:0001641|ICD10:Q82.8|UMLS:C2751987|DOID:0070137|MESH:C567855|OMIM:612940														https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b				owl:Class
HGNC:9721	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2615	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10432	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0021152	biolink:NamedThing	inherited	A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.	mondoexuq1wtf	familial|constitutitional genetic|inherited genetic|hereditary|genetic											EFO:0004420																		owl:Class
CL:0000646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:735	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4189	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4892	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:565995	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10681	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:34905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002121	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013641	biolink:NamedThing	Warburg micro syndrome 2	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.	mondoexuq1wtf	WARBURG micro syndrome 2|micro syndrome 2|Warburg micro syndrome caused by mutation in RAB3GAP2|WARBM2|Warburg micro syndrome type 2|Warburg micro syndrome 2|RAB3GAP2 Warburg micro syndrome											DOID:0110717|ICD10:Q87.0|OMIM:614225|UMLS:C3280214																		owl:Class
HGNC:12469	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0018884	biolink:NamedThing	Roch-Leri mesosomatous lipomatosis	Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.	mondoexuq1wtf	Roch-Leri syndrome											GARD:0004733|UMLS:C4274284|SCTID:716772007|ICD10:E88.2|Orphanet:529														https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis				owl:Class
HP:0011002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:122354	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013065	biolink:NamedThing	premature ovarian failure 7	Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.	mondoexuq1wtf	NR5A1 primary ovarian failure|premature ovarian failure 7|premature ovarian failure type 7|primary ovarian failure caused by mutation in NR5A1|Pof7|adrenal insufficiency, Nr5A1-related											UMLS:C2751825|OMIM:612964|MESH:C567838																		owl:Class
HGNC:2954	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30836	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29501	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011032	biolink:NamedThing	autosomal dominant nonsyndromic deafness 11	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	mondoexuq1wtf	MYO7A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness type 11|deafness, autosomal dominant 11|autosomal dominant deafness 11|DFNA11|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A											OMIM:601317|MESH:C563353|DOID:0110543|UMLS:C1832475|ICD10:H90.3																		owl:Class
MONDO:0009252	biolink:NamedThing	essential fructosuria	Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.	mondoexuq1wtf	fructosuria, essential|hepatic fructokinase deficiency|fructokinase deficiency|ketohexokinase deficiency											Orphanet:2056|ICD10:E74.11|SCTID:40278002|MedDRA:10015487|OMIM:229800|UMLS:C0268160|MESH:C538068|ICD10:E74.1|DOID:0111680																		owl:Class
HGNC:6315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:2702	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NBO:0000612	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034987	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:672	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31399	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26401	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042640	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000016156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024539	biolink:NamedThing	choroidal dystrophy, central areolar, 1	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	mondoexuq1wtf	choroidal dystrophy, central areolar, 1|CACD1|GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar|choroidal sclerosis|central areolar choroidal dystrophy caused by mutation in GUCY2D											OMIM:215500																		owl:Class
MONDO:0010056	biolink:NamedThing	spinal muscular atrophy, type IV	Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	mondoexuq1wtf	spinal muscular atrophy of adults|spinal muscular atrophy type 4|SMA type IV|SMA-IV|spinal muscular atrophy, type IV|SMA 4|SMA4|spinal muscular atrophy, adult form|spinal muscular atrophy 4|spinal muscular atrophy, proximal, adult, autosomal recessive|adult-onset spinal muscular atrophy|SMA type 4|adult spinal muscular atrophy|proximal spinal muscular atrophy type 4|spinal muscular atrophy, type 4											GARD:0000564|SCTID:85505000|Orphanet:83420|ICD9:335.19|OMIM:271150|DOID:0050529|ICD10:G12.1																		owl:Class
MONDO:0013845	biolink:NamedThing	auriculocondylar syndrome 2	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.	mondoexuq1wtf	Auriculocondylar syndrome type 2|ARCND2|AURICULOCONDYLAR syndrome 2|auriculocondylar syndrome caused by mutation in PLCB4|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome 2											OMIM:614669|UMLS:C3553404																		owl:Class
HGNC:9059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25507	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001710	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4553	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2190	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014254	biolink:NamedThing	otofaciocervical syndrome 2	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.	mondoexuq1wtf	PAX1 otofaciocervical syndrome|otofaciocervical syndrome 2|OTFCS2|otofaciocervical syndrome type 2|OFC2|otofaciocervical syndrome caused by mutation in PAX1											UMLS:C3714942|OMIM:615560																		owl:Class
HGNC:8615	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012531	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10682	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7632	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6256	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014679	biolink:NamedThing	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		mondoexuq1wtf	PMGYCHA|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis											UMLS:C4225295|OMIM:616531																		owl:Class
HGNC:8983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11571	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1511900	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11425	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3482	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:404429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14064	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012398	biolink:NamedThing	retinal cone dystrophy 3A		mondoexuq1wtf	cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|achromatopsia 6|RCD3A|retinal cone dystrophy 3A|retinal cone dystrophy type 3A|cone dystrophy with night blindness and supernormal rod responses PDE6H-related					Editor note: TODO logical defs for achromatopsias						UMLS:C1864900|OMIM:610024|GARD:0010648|MESH:C566483														https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a				owl:Class
HGNC:8790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18623	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002242	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007919	biolink:NamedThing	lymphedema, hereditary, 1A	Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.	mondoexuq1wtf	Milroy disease|FLT4 hereditary lymphedema|LMPH1A|Nonne-Milroy lymphedema|lymphedema, early-onset|hereditary lymphedema caused by mutation in FLT4|lymphedema, hereditary, IA|lymphedema, hereditary, type 1A|primary congenital lymphedema											OMIM:153100|DOID:0070210																		owl:Class
HGNC:3767	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014179	biolink:NamedThing	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.	mondoexuq1wtf	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|multisystem Proteinopathy 3|IBMPFD3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3											UMLS:C3809469|OMIM:615424|DOID:0111386																		owl:Class
HP:0001669	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100076	biolink:NamedThing	juvenile idiopathic scoliosis	A scoliosis with no known cause arising in a juvenile.	mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432																						owl:Class
HGNC:25947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6936	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6776	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21308	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012332	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003703	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004521	biolink:NamedThing	adult epithelioid sarcoma	An epithelioid sarcoma occurring in adults.	mondoexuq1wtf	epithelioid sarcoma of adults|adult epithelioid sarcoma|epithelioid sarcoma											NCIT:C7944|UMLS:C0279545|DOID:8282																		owl:Class
GO:0005984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5209	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000014785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5163	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14579	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012935	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 4		mondoexuq1wtf	leukemia, chronic lymphocytic, susceptibility to, 4|Clls4|leukemia, chronic lymphocytic, susceptibility to, type 4											OMIM:612558																		owl:Class
GO:0005262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013166	biolink:NamedThing	GABA aminotransferase deficiency	Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.	mondoexuq1wtf	gamma aminobutyric acid transaminase deficiency|gamma aminobutyrate transaminase deficiency|gamma-amino butyric acid transaminase deficiency|GABA transaminase deficiency|gamma-aminobutyric acid transaminase deficiency|GABA-transaminase deficiency|ABAT|GABAT|4 alpha aminobutyrate transaminase deficiency											SCTID:237941007|OMIM:613163|DOID:0060174|GARD:0000194|Orphanet:2066|ICD10:E72.8|HGNC:23|UMLS:C0342708|MESH:C535407																		owl:Class
HGNC:23	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007204	biolink:NamedThing	Cole-Carpenter syndrome 1	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.	mondoexuq1wtf	Cole-Carpenter syndrome 1|Cole-Carpenter syndrome caused by mutation in P4HB|CLCRP1|P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome type 1|COLE-CARPENTER syndrome 1|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features											UMLS:C4317154|OMIM:112240|UMLS:CN029402																		owl:Class
HGNC:8548	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25994	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002917	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:33743	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0006272	biolink:NamedThing	low grade fibromyxoid sarcoma	A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.	mondoexuq1wtf	low grade fibromyxoid sarcoma|low-grade fibromyxoid sarcoma											ONCOTREE:LGFMS|EFO:1000328|ICD9:171.9|NCIT:C45202|SCTID:404088004|UMLS:C1275282																		owl:Class
HGNC:21637	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007862	biolink:NamedThing	Waardenburg syndrome type 3	Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.	mondoexuq1wtf	Klein-Waardenburg syndrome|WS3|White forelock (poliosis) syndrome with multiple congenital malformations|Waardenburg syndrome with upper limb anomalies|Waardenburg syndrome with limb anomalies|Waardenburg syndrome type III|Waardenburg syndrome, type 3											GARD:0005523|OMIM:148820|Orphanet:896|ICD10:E70.3|DOID:0110949														https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3				owl:Class
HGNC:29040	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr9	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9024	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:260964	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:122277	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:327	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:37212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001876	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019553	biolink:NamedThing	drug-induced localized lipodystrophy	Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.	mondoexuq1wtf	lipoatrophy caused by injected drug											UMLS:CN227649|ICD10:E88.1|Orphanet:90157|SCTID:403661001																		owl:Class
HGNC:2217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3003	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0100037	biolink:NamedThing	juvenile onset pityriasis rubra pilaris	A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.	mondoexuq1wtf	juvenile onset PRP							http://orcid.org/0000-0001-5208-3432				GARD:0007401														https://github.com/monarch-initiative/mondo/issues/3470				owl:Class
HGNC:2959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000014782	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:53212	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000440	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29420	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013976	biolink:NamedThing	ectodermal dysplasia 9, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.	mondoexuq1wtf	ectodermal dysplasia 9, hair/nail type|HOXC13 pure hair and nail ectodermal dysplasia|ECTD9|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13											UMLS:C3554127|DOID:0111656|OMIM:614931																		owl:Class
HGNC:5125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:1904659	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013373	biolink:NamedThing	dilated cardiomyopathy 1V	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.	mondoexuq1wtf	CMD1V|PSEN2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|cardiomyopathy, dilated, type 1V|dilated cardiomyopathy type 1V											UMLS:C3150958|MESH:C566856|OMIM:613697|ICD10:I42.0|DOID:0110427																		owl:Class
HGNC:9509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0013229	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0098793	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001274	biolink:NamedThing	anal spasm		mondoexuq1wtf												DOID:11374|COHD:134404|ICD9:564.6|SCTID:17440005|ICD10:K59.4|UMLS:C0152167																		owl:Class
HGNC:15807	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010606	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6251	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30839	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013418	biolink:NamedThing	aortic aneurysm, familial thoracic 7		mondoexuq1wtf	aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic type 7|aortic aneurysm, familial thoracic 7|AAT7											UMLS:C3151077|OMIM:613780																		owl:Class
HGNC:13128	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:272561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000010730	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012736	biolink:NamedThing	long QT syndrome 9	Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.	mondoexuq1wtf	long QT syndrome 9|CAV3 long QT syndrome|long QT syndrome 9, acquired, susceptibility to|long QT syndrome type 9|LQT9|long QT syndrome caused by mutation in CAV3|long QT syndrome 2/9, digenic											ICD10:I45.8|GARD:0010435|OMIM:611818|DOID:0110650|MESH:C567515														https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9				owl:Class
HGNC:2736	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0002524	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013119	biolink:NamedThing	autosomal recessive nonsyndromic deafness 77	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.	mondoexuq1wtf	LOXHD1 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 77|autosomal recessive nonsyndromic deafness type 77|DFNB77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1|deafness, autosomal recessive 77|deafness, autosomal recessive type 77											MESH:C567543|OMIM:613079|UMLS:C2746083|ICD10:H90.3|DOID:0110525																		owl:Class
HGNC:26521	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4878	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1633	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4115	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7662	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007557	biolink:NamedThing	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		mondoexuq1wtf	epidermolysis bullosa with congenital localized absence of skin and deformity of nails|epidermolysis bullosa dystrophica, Bart type											MESH:C562638|ICD9:757.39|DOID:0111347|OMIM:132000|SCTID:2689001																		owl:Class
HGNC:13887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18672	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001003	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12303	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014809	biolink:NamedThing	DDX41-related hematologic malignancy predisposition syndrome	Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.	mondoexuq1wtf	myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|hereditary neoplastic syndrome caused by mutation in DDX41|DDX41 hereditary neoplastic syndrome|MPLPF											Orphanet:488647|OMIM:616871																		owl:Class
HGNC:18674	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6610	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011455	biolink:NamedThing	lissencephaly, familial, with cleft palate and cerebellar hypoplasia		mondoexuq1wtf	lissencephaly, familial, with cleft palate and cerebellar hypoplasia											MESH:C565781|OMIM:604382|UMLS:C1858419																		owl:Class
HP:0001339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013386	biolink:NamedThing	autosomal recessive nonsyndromic deafness 74	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.	mondoexuq1wtf	deafness, autosomal recessive type 74|autosomal recessive deafness 74|DFNB74|MSRB3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 74|autosomal recessive nonsyndromic deafness type 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3											OMIM:613718|UMLS:C2239351|ICD10:H90.3|DOID:0110523																		owl:Class
HGNC:27375	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024545	biolink:NamedThing	Miyoshi muscular dystrophy 1	Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.	mondoexuq1wtf	MMD1|muscular dystrophy, distal, late-onset, autosomal recessive|Miyoshi myopathy|Miyoshi myopathy caused by mutation in DYSF|MIYOSHI muscular dystrophy 1|DYSF Miyoshi myopathy											DOID:0070199|UMLS:C1850808|OMIM:254130																		owl:Class
MONDO:0017047	biolink:NamedThing	infantile axonal neuropathy		mondoexuq1wtf												Orphanet:2679|ICD10:G60.8|GARD:0002996														https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy				owl:Class
HGNC:20311	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010911	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002392	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:48796	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6297	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7882	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30794	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0033281	biolink:NamedThing	polycystic kidney disease 5	Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.	mondoexuq1wtf	PKD5|DZIP1L polycystic kidney disease|polycystic kidney disease 5|polycystic kidney disease caused by mutation in DZIP1L											DOID:0080273|OMIM:617610																		owl:Class
HGNC:26551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0010368	biolink:NamedThing	immunodeficiency without anhidrotic ectodermal dysplasia		mondoexuq1wtf	immunodeficiency, Pure|immunodeficiency, isolated|immunodeficiency without anhidrotic ectodermal dysplasia											MESH:C536289|OMIM:300584|GARD:0009917|UMLS:C1845117														https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia				owl:Class
HGNC:7173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009909	biolink:NamedThing	progesterone resistance		mondoexuq1wtf	progesterone resistance|pseudocorpus luteum insufficiency											MESH:C564871|OMIM:264080|UMLS:C1849699																		owl:Class
HGNC:8910	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6333	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14376	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24488	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012876	biolink:NamedThing	heparin cofactor 2 deficiency		mondoexuq1wtf	thrombophilia due to heparin cofactor 2 deficiency|Hcf2 deficiency|Hcf 2 deficiency|heparin cofactor II deficiency											MESH:C562865|UMLS:C0398626|ICD9:286.3|SCTID:234468009|OMIM:612356																		owl:Class
HGNC:4838	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012526	biolink:NamedThing	hereditary angioedema type 3	Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	Hae with normal C1 inhibitor concentration and function|angioedema, hereditary, type III|angioedema, hereditary, type 3|inherited estrogen-associated angioneurotic edema|hereditary angioneurotic edema type 3|F12 hereditary angioedema|HAE-III|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function|hereditary angioedema caused by mutation in F12|HAE 3|HAE3|estrogen-sensitive Hae|inherited estrogen-associated angioedema|inherited estrogen-dependent angioneurotic edema|hereditary angioedema with normal C1 inhibitor activity|estrogen-related Hae|Hae 3|inherited estrogen-dependent angioedema											SCTID:427167008|MESH:D056828|Orphanet:100054|ICD9:277.6|OMIM:610618|ICD10:D84.1																		owl:Class
HGNC:3530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6764	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0025085	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001867	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008332	biolink:NamedThing	pseudo-von Willebrand disease	Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.	mondoexuq1wtf	Von Willebrand disease, platelet type|PT-VWD|von Willebrand disease platelet-type|Platelet type-von Willebrand disease|VWDP|platelet-type bleeding disorder 3|platelet type-von Willebrand disease|pseudo-von Willebrand disease|bleeding disorder, Platelet-type, 3|BDPLT3|Von Willebrand disease, Platelet-type|Platelet-type von Willebrand disease|pseudo-VON WILLEBRAND disease|pseudo-von Willebrand disease type 2B					Editor note: check relationship to vWD						OMIM:177820|DOID:0111056|GARD:0008312|MESH:C536458|NCIT:C131681|Orphanet:52530|ICD10:D69.8																		owl:Class
HGNC:4439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21732	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002328	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8032	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009081	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10548	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070224	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6840	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013470	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 7	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.	mondoexuq1wtf	SCN9A generalized epilepsy with febrile seizures plus|febrile seizures, familial, 3B|GEFSP7|Gefs+, type 7|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|generalized epilepsy with febrile seizures plus, type 7											OMIM:613863|MESH:C567827|DOID:0111295																		owl:Class
MONDO:0010099	biolink:NamedThing	Tay-Sachs disease AB variant	GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.	mondoexuq1wtf	GM2 activator deficiency|hexosaminidase activator deficiency|GM2-gangliosidosis, AB variant|GM2 gangliosidosis, AB variant|Tay-Sachs disease, AB variant|Tay-Sachs disease, variant AB|Ab variant GM2-gangliosidosis											NCIT:C133084|ICD10:E75.0|DOID:4795|UMLS:C0268275|MESH:D049290|SCTID:71253000|OMIM:272750|Orphanet:309246																		owl:Class
HGNC:4367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11948	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043217	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:70999	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28434	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013002	biolink:NamedThing	cone-rod dystrophy 9	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.	mondoexuq1wtf	CORD9|ADAM9 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ADAM9|cone-rod dystrophy 9|cone-rod dystrophy type 9											DOID:0111020|OMIM:612775|UMLS:C1423873																		owl:Class
HGNC:216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013564	biolink:NamedThing	anhaptoglobinemia		mondoexuq1wtf	AHP|anhaptoglobinemia|hypohaptoglobinemia|Ahaptoglobinemia|ANHAPTOGLOBINEMIA											UMLS:C3279786|OMIM:614081																		owl:Class
HGNC:5141	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:494	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12563	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000949	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18744	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9477	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003128	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001732	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9060	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011917	biolink:NamedThing	focal segmental glomerulosclerosis 3, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.	mondoexuq1wtf	susceptibility to focal segmental glomerulosclerosis 3|glomerulosclerosis, focal segmental, 3, susceptibility to|focal segmental glomerulosclerosis 3, susceptibility to|FSGS3|focal segmental glomerulosclerosis caused by mutation in CD2AP|CD2AP focal segmental glomerulosclerosis											OMIM:607832																		owl:Class
HGNC:14258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0000207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10245	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017260	biolink:NamedThing	systemic diseases with posterior uveitis		mondoexuq1wtf												UMLS:CN202778|Orphanet:280930																		owl:Class
ENVO:02000106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21071	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12877	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26034	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10327	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005617	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25712	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012205	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011984	biolink:NamedThing	synpolydactyly type 2	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.	mondoexuq1wtf	SPD2|SD2b|synpolydactyly 2|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|FBLN1 non-syndromic synpolydactyly|non-syndromic synpolydactyly caused by mutation in FBLN1|SPD, Debeer type|synpolydactyly, Debeer type|SD2, Debeer type|synpolydactyly type 2											OMIM:608180|Orphanet:295197|MESH:C564278|ICD10:Q70.0|UMLS:C1842422|ICD10:Q70.2																		owl:Class
HGNC:3600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26703	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014517	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 9	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.	mondoexuq1wtf	STX1B generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus caused by mutation in STX1B|STX1b generalized epilepsy with febrile seizures plus|Gefs+, type 9|generalized epilepsy with febrile seizures plus, type 9|generalized epilepsy with febrile seizures plus caused by mutation in STX1b|GEFSP9											UMLS:C4015395|OMIM:616172|DOID:0111301																		owl:Class
HGNC:18539	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043400	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9725	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:482538	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001700	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26926	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019115	biolink:NamedThing	obesity due to melanocortin 4 receptor deficiency	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.	mondoexuq1wtf	MC4R deficiency											Orphanet:71529|SCTID:717269008|NCIT:C120394|UMLS:C4273958|ICD10:E66.8																		owl:Class
HGNC:6932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003532	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5004	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0019000	biolink:NamedThing	perineural cyst	Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.	mondoexuq1wtf	Tarlov cysts|perineural cysts|sacral neural cysts|sacral perineural cysts|Tarlov cyst|sacral Tarlov cysts											GARD:0009258|SCTID:81634008|ICD10:G54.8|Orphanet:65250|EFO:1001858|MESH:D052958																		owl:Class
HGNC:9848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13601	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001222	biolink:NamedThing	congenital T-cell immunodeficiency	A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	mondoexuq1wtf	congenital T-cell immunodeficiency|T cell deficiency											UMLS:C1333147|DOID:11200|NCIT:C27872																		owl:Class
HGNC:7997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2436	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011831	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 8	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.	mondoexuq1wtf	arrhythmogenic right ventricular dysplasia type 8|ARVC8|familial arrhythmogenic right ventricular dysplasia 8|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|ARVD8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 8|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular cardiomyopathy 8											DOID:0110076|MESH:C564400|UMLS:C1843896|OMIM:607450|ICD10:I42.8																		owl:Class
HGNC:18704	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013593	biolink:NamedThing	autosomal dominant nonsyndromic deafness 64	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|DIABLO autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 64|deafness, autosomal dominant 64|autosomal dominant nonsyndromic deafness type 64|autosomal dominant deafness 64|DFNA64											UMLS:C3279948|ICD10:H90.3|OMIM:614152|DOID:0110585																		owl:Class
HGNC:21528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0071625	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2682	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25792	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:33	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3512	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9173	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13818	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30611	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011837	biolink:NamedThing	vitamin K-dependent clotting factors, combined deficiency of, type 2	Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.	mondoexuq1wtf	VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|VKCFD2|vitamin K-dependent clotting factors, combined deficiency of, 2|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1											OMIM:607473|UMLS:C1843832|MESH:C564393																		owl:Class
HGNC:23663	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3007	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013503	biolink:NamedThing	candidiasis, familial, 6	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.	mondoexuq1wtf	familial chronic mucocutaneous candidiasis caused by mutation in IL17F|candidiasis, familial, 6|CANDF6|candidiasis, familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, type 6|IL17F familial chronic mucocutaneous candidiasis											OMIM:613956|UMLS:C3151405																		owl:Class
HGNC:16404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0043484	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008540	biolink:NamedThing	extensor tendons of finger anomalies		mondoexuq1wtf	Hapnes-Boman-Skeie syndrome|Hapnes Boman Skeie syndrome|tendons, extensor, of fingers, anomalous insertion OF|anomalous insertion of extensor tendons of fingers											GARD:0002597|Orphanet:3294|MESH:C566068|UMLS:C2931376|OMIM:187390																		owl:Class
HGNC:7013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0046110	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3381	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0000050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3176	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013358	biolink:NamedThing	Seckel syndrome 4	Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.	mondoexuq1wtf	Seckel syndrome caused by mutation in CENPJ|Seckel syndrome 4|CENPJ Seckel syndrome|SCKL4|Seckel syndrome type 4											DOID:0070010|UMLS:C3888212|OMIM:613676																		owl:Class
HGNC:6535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25198	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0007628	biolink:NamedThing	foveal hypoplasia 1	Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.	mondoexuq1wtf	foveal hypoplasia 1|foveal hypoplasia, presenile cataract|FVH1|foveal hypoplasia type 1|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|PAX6 foveal hypoplasia|foveal hypoplasia caused by mutation in PAX6|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|O Donnell Pappas syndrome											OMIM:136520|GARD:0000406|UMLS:C3805604																		owl:Class
NCBITaxon:34619	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11102	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004563	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0016126	biolink:NamedThing	viral myositis		mondoexuq1wtf												ICD9:729.1|SCTID:240105009|Orphanet:206991|ICD10:M60.0|UMLS:C0150005|MedDRA:10051512																		owl:Class
HGNC:12874	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3700	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011962	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2153	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:89940	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002209	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014820	biolink:NamedThing	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.	mondoexuq1wtf	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|mitochondrial DNA depletion syndrome caused by mutation in OPA1|MTDPS14											OMIM:616896|DOID:0080336|UMLS:C4225163																		owl:Class
GO:0033059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003045	biolink:NamedThing	anal gland neoplasm	Tumors or cancer of the anal gland.	mondoexuq1wtf	neoplasm of gland of anal canal|gland of anal canal neoplasm|tumor of gland of anal canal|gland of anal canal tumor|gland of anal canal neoplasm (disease)											UMLS:C0002757|MESH:D000694|EFO:1000804|DOID:4550																		owl:Class
UBERON:0004760	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1699	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003867	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10298	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014982	biolink:NamedThing	myopia 25, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.	mondoexuq1wtf	MYP25|myopia 25, autosomal dominant; MYP25|myopia 25, autosomal dominant|P4HA2 myopia (disease)|myopia (disease) caused by mutation in P4HA2											UMLS:C4310655|OMIM:617238																		owl:Class
HGNC:8547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:53467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6243	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000336	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6741	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22197	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24866	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0051180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001735	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11926	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:452	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2228	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001928	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17928	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0020182	biolink:NamedThing	palpebral tumor with a vascular malformation		mondoexuq1wtf												UMLS:CN207042|Orphanet:98592																		owl:Class
HGNC:15853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002049	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:12475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2200	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015804	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001557	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000227	biolink:NamedThing	African tick-bite fever		mondoexuq1wtf	South African tick-bite fever|Rickettsia africae spotted fever											UMLS:C1320317|SCTID:415561000|DOID:0050035																		owl:Class
NCBITaxon:6942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2291	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16915	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16002	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18179	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5218	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:372083	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13356	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19041	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014995	biolink:NamedThing	neurodevelopmental disorder with hypotonia, seizures, and absent language		mondoexuq1wtf	neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language|NDHSAL											UMLS:C4310643|OMIM:617268																		owl:Class
HGNC:29853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19237	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014677	biolink:NamedThing	achromatopsia 7	Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.	mondoexuq1wtf	ATF6 achromatopsia|achromatopsia caused by mutation in ATF6|achromatopsia 7|ACHM7|achromatopsia type 7											DOID:0110009|UMLS:C4225297|OMIM:616517																		owl:Class
HGNC:791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013474	biolink:NamedThing	hypertrophic cardiomyopathy 17	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.	mondoexuq1wtf	cardiomyopathy, familial hypertrophic, 17|cardiomyopathy, familial hypertrophic, type 17|cardiomyopathy familial hypertrophic 17|CMH17|JPH2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in JPH2|hypertrophic cardiomyopathy type 17											OMIM:613873|DOID:0110323|UMLS:C3151264																		owl:Class
HGNC:14202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001709	biolink:NamedThing	hypercalcemic sarcoidosis	Sarcoidosis with a complication of hypercalcemia.	mondoexuq1wtf												NCIT:C35807|DOID:13407|UMLS:C1334067																		owl:Class
HGNC:23594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:57077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000853	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000731	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000313	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0012367	biolink:NamedThing	retinitis pigmentosa 31	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.	mondoexuq1wtf	TOPORS retinitis pigmentosa|RP31|RP 31|retinitis pigmentosa 31|retinitis pigmentosa caused by mutation in TOPORS|retinitis pigmentosa type 31											DOID:0110391|ICD10:H35.5|UMLS:C1835923|OMIM:609923|MESH:C563685|GARD:0010396														https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31				owl:Class
HGNC:21653	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0011196	biolink:NamedThing	amyotrophic lateral sclerosis type 5	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 5, juvenile|SPG11 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5|ALS5											DOID:0060197|GARD:0010503|UMLS:C1865864|MESH:C566576|OMIM:602099														https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5				owl:Class
HGNC:1641	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:520	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0024877	biolink:NamedThing	clitoris neoplasm	A neoplasm involving a clitoris.	mondoexuq1wtf	clitoris tumor|neoplasm of clitoris|tumor of clitoris|clitoral neoplasm											UMLS:C1263793|SCTID:126925009|ICD9:239.5																		owl:Class
UBERON:0002411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3622	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16695	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014472	biolink:NamedThing	periodic fever-infantile enterocolitis-autoinflammatory syndrome		mondoexuq1wtf	AIFEC|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|autoinflammation with infantile enterocolitis|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related MAS|NLRC4-related autoinflammatory syndrome with MAS|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related macrophage activation syndrome											OMIM:616050|Orphanet:436166|ICD10:E85.0|UMLS:C4015067																		owl:Class
HGNC:16412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0007858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001464	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30372	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005652	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002023	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000306	biolink:NamedThing	trichosporonosis	Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.	mondoexuq1wtf	Trichosporon disease or disorder|Trichosporon infectious disease|Trichosporon caused disease or disorder											MESH:D060586|UMLS:C0343939|SCTID:240761008|DOID:0050290																		owl:Class
NCBITaxon:5552	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9958	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0013191	biolink:NamedThing	focal segmental glomerulosclerosis 5	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.	mondoexuq1wtf	focal segmental glomerulosclerosis 5|INF2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 5|FSGS5|focal segmental glomerulosclerosis caused by mutation in INF2|glomerulosclerosis, focal segmental, 5											OMIM:613237|ICD10:N04.1|UMLS:C2750475|DOID:0111130|MESH:C567687																		owl:Class
NCBITaxon:171	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0014307	biolink:NamedThing	Dowling-Degos disease 4	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.	mondoexuq1wtf	Dowling-Degos disease 4|POGLUT1 Dowling-Degos disease|DDD4|Dowling-Degos disease type 4|Dowling-Degos disease caused by mutation in POGLUT1											OMIM:615696|UMLS:C3810313																		owl:Class
HGNC:7103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000497	biolink:NamedThing	pyometritis	Inflammation of uterine musculature associated with pus in the uterine cavity.	mondoexuq1wtf	pyometra|myometrium inflammation|inflammation of myometrium											DOID:0050862|UMLS:C0034215|NCIT:C121207|UMLS:C0686163|MESH:D055112|SCTID:88981003																		owl:Class
GO:0006281	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30664	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980459	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005333	biolink:NamedThing	hyperthyroxinemia	Abnormally elevated thyroxine level in the blood.	mondoexuq1wtf												MESH:D006981|HGNC:399|UMLS:C0020551|DOID:2855|EFO:0004127																		owl:Class
NCBITaxon:91493	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008096	biolink:NamedThing	nevus flammeus of nape of neck		mondoexuq1wtf	Unna Nevus|nevus flammeus of nape of neck|erythema nuchae											OMIM:163100|MESH:C567524																		owl:Class
MONDO:0031002	biolink:NamedThing	Baralle-Macken syndrome		mondoexuq1wtf	BARMACS|neurodevelopmental disorder with cataracts and variable microcephaly											OMIM:619255																		owl:Class
MONDO:0100403	biolink:NamedThing	acute myeloid leukemia, loss of chromosome 17p	Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)	mondoexuq1wtf	AML, del(17p)|AML, loss of chromosome 17p																													owl:Class
MONDO:0017067	biolink:NamedThing	cervicothoracic spina bifida aperta		mondoexuq1wtf												Orphanet:268397|UMLS:CN202426																		owl:Class
MONDO:0001480	biolink:NamedThing	malignant tumor of undescended testis		mondoexuq1wtf	malignant neoplasm of undescended testis|malignant neoplasm of retained testis|malignant tumor of retained testis											ICD9:186.0|DOID:12276|SCTID:188219004|UMLS:C0153595|ICD10:C62.0|COHD:4092524																		owl:Class
MONDO:0009136	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 1	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.	mondoexuq1wtf	dyskeratosis congenita, autosomal recessive type 1|dyskeratosis congenita autosomal recessive|autosomal recessive dyskeratosis congenita 1|DKCB|DKCB1|autosomal recessive dyskeratosis congenita|dyskeratosis congenita, autosomal recessive 1											UMLS:C1857144|MESH:C565611|SCTID:707272006|OMIM:224230|GARD:0006300|DOID:0070015														https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive				owl:Class
MONDO:0003398	biolink:NamedThing	anterograde amnesia	Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)	mondoexuq1wtf												DOID:5340|ICD10:R41.1|MESH:D020324																		owl:Class
MONDO:0030937	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 3		mondoexuq1wtf	mitochondrial complex 2 deficiency, nuclear type 3|MC2DN3											OMIM:619167																		owl:Class
MONDO:0100315	biolink:NamedThing	isolated adrenal insufficiency	An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.	mondoexuq1wtf	isolated adrenal insufficiency							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0003312	biolink:NamedThing	ovarian endometrioid stromal and related neoplasms	A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	mondoexuq1wtf	ovary endometrioid stromal and related neoplasms|endometrioid stromal and related neoplasms of ovary|ovarian endometrioid stromal and related neoplasms|ovarian endometrioid stromal sarcoma											UMLS:C4288544|NCIT:C40065|DOID:5169																		owl:Class
MONDO:0007719	biolink:NamedThing	diaphragmatic hernia, congenital 1		mondoexuq1wtf	diaphragm, unilateral agenesis of|hemidiaphragm, agenesis of|diaphragmatic hernia 1|DIH1|hernia, congenital diaphragmatic|diaphragm, complete agenesis of|diaphragmatic hernia, congenital|diaphragmatic defect, congenital											OMIM:142340																		owl:Class
MONDO:0025353	biolink:NamedThing	developmental and epileptic encephalopathy, 90		mondoexuq1wtf	DEE90|developmental and epileptic encephalopathy 90											OMIM:301058																		owl:Class
MONDO:0013035	biolink:NamedThing	orofaciodigital syndrome XI	Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	mondoexuq1wtf	OFD11|OFD syndrome 11|Gabrielli syndrome|oral-facial-digital syndrome type 11|orofaciodigital syndrome XI|oral-facial-digital syndrome, Gabrielli type|orofaciodigital syndrome type XI|oral-Facial-digital syndrome, type 11|oral facial digital syndrome 11|orofaciodigital syndrome type 11|orofaciodigital syndrome, Gabrielli type|Ofds 11|oral facial digital syndrome type 11|oral-Facial-digital syndrome with skeletal anomalies|orofaciodigital syndrome 11											SCTID:718681002|MESH:C557821|OMIM:612913|Orphanet:141000|ICD10:Q87.0|DOID:0060381|GARD:0004118														https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11				owl:Class
MONDO:0009927	biolink:NamedThing	3MC syndrome 2	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.	mondoexuq1wtf	Carnevale syndrome|oculo-skeletal-abdominal syndrome|3MC syndrome 2|3MC syndrome caused by mutation in COLEC11|3Mc syndrome type 2|Carnevale syndrome, formerly|COLEC11 3MC syndrome|ptosis of eyelids with diastasis recti and hip dysplasia|3MC2|3MC syndrome type 2|Osa syndrome											DOID:0060576|MESH:C535586|Orphanet:2998|EFO:1001977|OMIM:265050																		owl:Class
MONDO:0007236	biolink:NamedThing	branchiootorenal syndrome 1		mondoexuq1wtf	branchiootorenal syndrome type 1|branchiootorenal dysplasia|BOR1|Melnick-Fraser syndrome|branchiootorenal syndrome 1											OMIM:113650|DOID:0111423																		owl:Class
MONDO:0030866	biolink:NamedThing	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		mondoexuq1wtf	NEDCASB											OMIM:619121																		owl:Class
MONDO:0001761	biolink:NamedThing	favism	A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.	mondoexuq1wtf												ICD10:D55.0|UMLS:C0015702|DOID:13628|SCTID:191172001|MESH:D005236|NCIT:C34607																		owl:Class
MONDO:0006737	biolink:NamedThing	dystocia	Slow or difficult obstetric labor or childbirth.	mondoexuq1wtf												MESH:D004420|EFO:1000911																		owl:Class
MONDO:0032575	biolink:NamedThing	diarrhea 9		mondoexuq1wtf	DIARRHEA 9|DIAR9											OMIM:618168																		owl:Class
MONDO:0000320	biolink:NamedThing	glandular tularemia	A tularemia that involves the lymph node.	mondoexuq1wtf	lymph node tularemia											DOID:0050382|SCTID:21857006|UMLS:C0275974																		owl:Class
MONDO:0013017	biolink:NamedThing	hypotrichosis 5	A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.	mondoexuq1wtf	Muhh2|hypotrichosis type 5|hypt5|hypotrichosis 5|HYPT5|Marie Unna hereditary hypotrichosis 2											OMIM:612841|DOID:0110702|UMLS:C2748535|MESH:C567554																		owl:Class
MONDO:0016598	biolink:NamedThing	autosomal recessive secondary polycythemia not associated with VHL gene		mondoexuq1wtf	autosomal recessive secondary polycythemia, non-Chuvash type|autosomal recessive secondary erythrocytosis, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene											Orphanet:247378|ICD10:D75.1|UMLS:CN226972																		owl:Class
MONDO:0027767	biolink:NamedThing	partial lipodystrophy	Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.	mondoexuq1wtf												UMLS:C4316789|NCIT:C131296|DOID:0080299																		owl:Class
MONDO:0007005	biolink:NamedThing	ulcerative proctosigmoiditis	Inflammation of the rectum and the distal portion of the colon.	mondoexuq1wtf												ICD9:556.3|EFO:1001223|SCTID:52506002																		owl:Class
MONDO:0016638	biolink:NamedThing	familial hypodysfibrinogenemia		mondoexuq1wtf												ICD10:D68.2|UMLS:CN201839|Orphanet:248408																		owl:Class
MONDO:0006831	biolink:NamedThing	leukostasis	A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.	mondoexuq1wtf	leukostasis (morphologic abnormality)											DOID:12986|UMLS:C0282548|MESH:D018921|EFO:1001016|MedDRA:10024404																		owl:Class
MONDO:0012018	biolink:NamedThing	myopathy, myosin storage, autosomal dominant		mondoexuq1wtf	MSMA|myopathy, myosin storage, autosomal dominant|myopathy with lysis of type 1 myofibrils|myopathy, hyaline body, autosomal dominant											ICD9:359.89|SCTID:699267007|OMIM:608358|UMLS:C1842160|MESH:C564253																		owl:Class
MONDO:0003805	biolink:NamedThing	malignant pericardial mesothelioma	A rare neoplasm of mesothelial origin that arises from the pericardium.	mondoexuq1wtf	pericardial mesothelioma|malignant pericardial mesothelioma|malignant mesothelioma (disease) of pericardium|pericardial malignant mesothelioma|pericardium mesothelioma|malignant mesothelioma of pericardium|malignant mesothelioma of the pericardium|pericardium malignant mesothelioma (disease)											UMLS:C1335381|NCIT:C7631|UMLS:C0346110|ICD10:C45.2|DOID:6201|HP:0100004|SCTID:109383000																		owl:Class
MONDO:0012715	biolink:NamedThing	migraine with or without aura, susceptibility to, 12		mondoexuq1wtf	migraine with or without aura, susceptibility to, 12|MGR12											OMIM:611706																		owl:Class
MONDO:0012259	biolink:NamedThing	colloid cysts of third ventricle	Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.	mondoexuq1wtf	neuroepithelial cysts of third ventricle|colloid cysts of third ventricle											MESH:C535966|OMIM:609363|GARD:0009878														https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle				owl:Class
MONDO:0017209	biolink:NamedThing	infectious posterior uveitis		mondoexuq1wtf												Orphanet:279919|ICD10:H20.0																		owl:Class
MONDO:0017518	biolink:NamedThing	brachydactyly of toes, bilateral		mondoexuq1wtf	short toes, bilateral											ICD10:Q72.8|Orphanet:295134																		owl:Class
CL:0011026	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022846	biolink:NamedThing	congenital nonhemolytic jaundice		mondoexuq1wtf												GARD:0006177														https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice				owl:Class
MONDO:0019774	biolink:NamedThing	Holmes-Gang syndrome	Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	mondoexuq1wtf						Editor note: check GARD assignment						ICD10:Q87.0|Orphanet:93970|UMLS:CN206715																		owl:Class
MONDO:0022316	biolink:NamedThing	hair defect with photosensitivity and intellectual disability syndrome	Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	mondoexuq1wtf	hair defect with photosensitivity and intellectual disability syndrome											SCTID:721007005																		owl:Class
MONDO:0044762	biolink:NamedThing	diarrheal disease secondary to increased bowel motility	A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.	mondoexuq1wtf	motility-related diarrhea|diarrhea from increased bowel motility											DOID:0050131																		owl:Class
MONDO:0009911	biolink:NamedThing	prolactin deficiency, isolated		mondoexuq1wtf	prolactin deficiency, isolated											OMIM:264110|SCTID:67873006|MESH:C562708|ICD9:253.4																		owl:Class
MONDO:0017522	biolink:NamedThing	hyperphalangy, bilateral		mondoexuq1wtf	supernumerary phalanx, bilateral|supernumerary phalanges, bilateral											ICD10:Q74.8|Orphanet:295142																		owl:Class
MONDO:0021458	biolink:NamedThing	benign neoplasm of penis	A benign neoplasm that involves the penis.	mondoexuq1wtf	benign penile tumor|benign tumor of the penis|penis benign neoplasm|benign tumor of penis|benign penile neoplasm|benign neoplasm of the penis											ICD9:222.1|UMLS:C0149627|SCTID:92286008|NCIT:C3489|ICD10:D29.0																		owl:Class
MONDO:0005752	biolink:NamedThing	epidural abscess	Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)	mondoexuq1wtf	intraspinal extradural abscess|intraspinal epidural abscess|spinal extradural abscess|spinal epidural abscess (disorder)|spinal epidural abscess|extradural intraspinal abscess|abscess epidural											MESH:D020802|DOID:11387|UMLS:C0270629|EFO:0007260|SCTID:61974008																		owl:Class
MONDO:0009939	biolink:NamedThing	pulmonic stenosis and congenital nephrosis		mondoexuq1wtf	pulmonic stenosis and congenital nephrosis											UMLS:C0403552|OMIM:265600|MESH:C562895|SCTID:236530006																		owl:Class
MONDO:0001883	biolink:NamedThing	blue toe syndrome	A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.	mondoexuq1wtf												MESH:D018438|UMLS:C0242645|DOID:14121																		owl:Class
MONDO:0010057	biolink:NamedThing	spinal muscular atrophy, Ryukyuan type		mondoexuq1wtf	Ryukyuan muscular atrophy|spinal muscular atrophy Ryukyuan type|spinal muscular atrophy, Ryukyuan type											GARD:0009646|OMIM:271200|UMLS:C1849102|MESH:C536881														https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type				owl:Class
MONDO:0007491	biolink:NamedThing	dystelephalangy		mondoexuq1wtf	Kirner deformity|dystelephalangy|congenital bilateral metadiaphyseal acrodysplasia of the little finger											UMLS:C1851955|OMIM:128000|GARD:0010059|MESH:C538000														https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy				owl:Class
MONDO:0019908	biolink:NamedThing	ring chromosome 15	Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.	mondoexuq1wtf	R15|Ring chromosome 15 syndrome|Ring 15|Ring chromosome type 15|chromosome 15 ring											MESH:C538035|UMLS:CN035931|GARD:0001328|ICD10:Q93.2|Orphanet:96177|SCTID:763405000														https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15				owl:Class
MONDO:0001899	biolink:NamedThing	rheumatic congestive heart failure		mondoexuq1wtf	rheumatic heart failure|congestive rheumatic heart failure|rheumatic heart failure (congestive)											DOID:14172|ICD10:I09.81|ICD9:398.91|UMLS:C0155582|SCTID:82523003|COHD:315295																		owl:Class
MONDO:0001244	biolink:NamedThing	vitamin K deficiency hemorrhagic disease	Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.	mondoexuq1wtf	vitamin K deficiency|vitamin K deficiency coagulation disorder|deficiency of vitamin K											ICD9:269.0|SCTID:52675005|UMLS:C0042880|COHD:435781|NCIT:C99108|UMLS:C0272348|MESH:D014813|ICD10:E56.1|DOID:11249																		owl:Class
MONDO:0019654	biolink:NamedThing	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		mondoexuq1wtf												ICD10:N04.8|UMLS:CN206527|Orphanet:93217																		owl:Class
MONDO:0003236	biolink:NamedThing	atypical polypoid adenomyoma	An adenomyoma characterized by the presence of marked glandular architectural complexity.	mondoexuq1wtf	atypical polypoid adenomyoma|atypical polypoid adenomyoma (morphologic abnormality)											NCIT:C6895|DOID:4993|UMLS:C1300347																		owl:Class
MONDO:0003353	biolink:NamedThing	heart leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.	mondoexuq1wtf	leiomyosarcoma of the heart|leiomyosarcoma of heart|Cardiac leiomyosarcoma|heart leiomyosarcoma											NCIT:C5364|UMLS:C1332848|DOID:5261																		owl:Class
MONDO:0017567	biolink:NamedThing	macrodactyly of toes, bilateral		mondoexuq1wtf	macrodactyly of foot, bilateral											ICD10:Q74.2|Orphanet:295245																		owl:Class
MONDO:0032605	biolink:NamedThing	intellectual disability, autosomal recessive 66		mondoexuq1wtf	MRT66|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66											OMIM:618221																		owl:Class
MONDO:0019901	biolink:NamedThing	non-distal monosomy 20q		mondoexuq1wtf	non-telomeric monosomy 20q|non-distal monosomy type 20q|non-distal deletion 20q											ICD10:Q93.5|Orphanet:96164																		owl:Class
MONDO:0012811	biolink:NamedThing	aneurysm, intracranial berry, 8		mondoexuq1wtf	aneurysm, intracranial BERRY, 8|ANIB8											OMIM:612162|MESH:C567405|UMLS:C2677336																		owl:Class
MONDO:0017520	biolink:NamedThing	symbrachydactyly of hand and foot, bilateral		mondoexuq1wtf												Orphanet:295138|ICD10:Q73.8|UMLS:CN203253																		owl:Class
MONDO:0005257	biolink:NamedThing	advanced heart failure	Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.	mondoexuq1wtf												Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003149																		owl:Class
MONDO:0004319	biolink:NamedThing	hypercalcemic type ovarian small cell carcinoma	An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.	mondoexuq1wtf	ovarian small cell carcinoma, hypercalcemic type|SCCOHT											NCIT:C40439|DOID:7651|UMLS:C1518736																		owl:Class
MONDO:0042964	biolink:NamedThing	Machado-Joseph disease type 4	A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.	mondoexuq1wtf	azorean disease, type iv											ICD9:334.3|UMLS:C0686352|SCTID:91956006																		owl:Class
MONDO:0020385	biolink:NamedThing	congenitally uncorrected transposition of the great arteries with coarctation		mondoexuq1wtf	congenitally uncorrected transposition of the great vessels with coarctation|TGA with coarctation											ICD10:Q20.3|Orphanet:99042																		owl:Class
MONDO:0043904	biolink:NamedThing	leishmaniasis, diffuse cutaneous	A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.	mondoexuq1wtf	cutaneous leishmaniasis, diffuse|lepromatous cutaneous leishmaniasis|dcl - diffuse cutaneous leishmaniasis|diffuse cutaneous Leishmaniases|leproid leishmaniasis|cheloid leishmaniasis|Leishmaniases, diffuse cutaneous|diffuse cutaneous leishmaniasis|cutaneous Leishmaniases, diffuse											SCTID:38573008|MESH:D016774																		owl:Class
MONDO:0004349	biolink:NamedThing	retina lymphoma	A lymphoma that involves the retina.	mondoexuq1wtf	retinal lymphoma|lymphoma of retina|lymphoma of the retina|retina lymphoma|primary retinal lymphoma											DOID:774|SCTID:232075002|ICD9:198.4|NCIT:C4365|UMLS:C0339556																		owl:Class
MONDO:0009199	biolink:NamedThing	ethanolaminosis		mondoexuq1wtf	ethanolaminosis|ethanolamine kinase deficiency											OMIM:227150|MESH:C562651|UMLS:C0268423|ICD9:270.8|SCTID:64235006																		owl:Class
MONDO:0017108	biolink:NamedThing	isolated total cerebellar vermis agenesis		mondoexuq1wtf												ICD10:Q04.3|Orphanet:269206																		owl:Class
MONDO:0004081	biolink:NamedThing	extrahepatic bile duct clear cell adenocarcinoma	A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.	mondoexuq1wtf	bile duct clear cell carcinoma|bile duct clear cell adenocarcinoma|clear cell adenocarcinoma of the bile duct|clear cell bile duct adenocarcinoma|clear cell adenocarcinoma of bile duct|extrahepatic bile duct clear cell adenocarcinoma											DOID:7032|UMLS:C0861855|NCIT:C5775																		owl:Class
MONDO:0011206	biolink:NamedThing	ventriculomegaly with defects of the radius and kidney		mondoexuq1wtf	ventriculomegaly with defects of the radius and kidney											OMIM:602200|UMLS:C1865780|MESH:C566565																		owl:Class
MONDO:0004556	biolink:NamedThing	carcinoma arising in nasal papillomatosis	A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.	mondoexuq1wtf	carcinoma arising in nasal papillomatosis											UMLS:C1332840|NCIT:C27389|DOID:8415																		owl:Class
MONDO:0020506	biolink:NamedThing	ovarioleukodystrophy		mondoexuq1wtf												Orphanet:99853|ICD10:E75.2|UMLS:C1847967																		owl:Class
MONDO:0004524	biolink:NamedThing	thyroid gland atypical follicular adenoma	A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.	mondoexuq1wtf	thyroid gland atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality)|atypical follicular adenoma											NCIT:C27729|DOID:8292|ICDO:8330/1|UMLS:C1266046																		owl:Class
MONDO:0008802	biolink:NamedThing	antithrombin, familial hemorrhagic diathesis due to		mondoexuq1wtf	antithrombin, familial hemorrhagic diathesis due to											UMLS:C1859761|MESH:C565947|OMIM:207300																		owl:Class
MONDO:0005253	biolink:NamedThing	high output heart failure	High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.	mondoexuq1wtf												UMLS:C0221045|Wikipedia:High-output_cardiac_failure|EFO:0003145|SCTID:10091002																		owl:Class
MONDO:0016376	biolink:NamedThing	confetti-like macular atrophy		mondoexuq1wtf												ICD10:L90.8|Orphanet:221142																		owl:Class
MONDO:0022673	biolink:NamedThing	autosomal dominant non-nuclear cataract		mondoexuq1wtf	cataract, Nonnuclear polymorphic congenital, autosomal dominant|autosomal dominant nonnuclear polymorphic congenital cataract|CCP|cataract, polymorphic congenital|cataract congenital dominant non nuclear|PCC											GARD:0001144|MESH:C538284														https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear				owl:Class
MONDO:0023196	biolink:NamedThing	frontonasal malformation cloacal exstrophy		mondoexuq1wtf	fronto nasal malformation cloacal exstrophy											GARD:0002389														https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy				owl:Class
MONDO:0009840	biolink:NamedThing	Partington-Anderson syndrome		mondoexuq1wtf	Partington-Anderson syndrome											Orphanet:2829|UMLS:CN202825|MESH:C536299|UMLS:C1850075|OMIM:260555																		owl:Class
MONDO:0007497	biolink:NamedThing	ear antitragus, tag at base of		mondoexuq1wtf	ear antitragus, tag at base of											OMIM:128290																		owl:Class
MONDO:0028618	biolink:NamedThing	gastroenteric neuroendocrine neoplasm		mondoexuq1wtf												Orphanet:481508																		owl:Class
MONDO:0016531	biolink:NamedThing	digestive duplication		mondoexuq1wtf												Orphanet:238|ICD10:Q45.8																		owl:Class
MONDO:0010700	biolink:NamedThing	optic atrophy--spastic paraplegia syndrome		mondoexuq1wtf	optic atrophy--spastic paraplegia syndrome											OMIM:311100|MESH:C564084|UMLS:C1839565																		owl:Class
MONDO:0017937	biolink:NamedThing	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain		mondoexuq1wtf												UMLS:CN204081|Orphanet:324585|ICD10:G60.0																		owl:Class
MONDO:0030921	biolink:NamedThing	intellectual disability, autosomal dominant 55, with seizures		mondoexuq1wtf	intellectual disability, autosomal dominant 55, with seizures|MRD55|mental retardation, autosomal dominant 55, with seizures|autosomal dominant mental retardation 55|autosomal dominant intellectual disability 55											OMIM:617831|DOID:0080227|UMLS:CN757796																		owl:Class
MONDO:0003941	biolink:NamedThing	classic variant of chromophobe renal cell carcinoma		mondoexuq1wtf	classic variant of chromophobe renal cell carcinoma											UMLS:C1333062|DOID:6605|NCIT:C27888																		owl:Class
MONDO:0003765	biolink:NamedThing	adult leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.	mondoexuq1wtf	melanoma of adult leptomeninges|adult leptomeningeal melanoma|adult meningeal melanoma|melanoma of the adult leptomeninges											UMLS:C1332204|NCIT:C5319|DOID:6090																		owl:Class
MONDO:0007137	biolink:NamedThing	isolated congenital anosmia	This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.	mondoexuq1wtf	anosmia, isolated congenital|ANIC|congenital anosmia|anosmia, congenital											MESH:C535983|ICD10:Q07.8|OMIM:107200|SCTID:230502003|GARD:0009486|Orphanet:88620																		owl:Class
MONDO:0010450	biolink:NamedThing	intellectual disability, X-linked 89		mondoexuq1wtf	MRX89|mental retardation, X-linked 89|intellectual disability, X-linked 89											MESH:C564036|OMIM:300848																		owl:Class
MONDO:0024382	biolink:NamedThing	circadian rhythm sleep disorder, shift work type	A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.	mondoexuq1wtf	circadian rhythm sleep disorder of shift work type|shift work disorder											SCTID:713498009|ICD10:G47.26																		owl:Class
MONDO:0010446	biolink:NamedThing	X-linked cone dysfunction syndrome with myopia	X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.	mondoexuq1wtf	Bornholm eye disease|myopia, high, with nonprogressive cone dysfunction|bed|BORNHOLM eye disease											SCTID:718718009|Orphanet:90001|OMIM:300843|MESH:C564092|UMLS:C3159311|ICD10:H53.8																		owl:Class
MONDO:0007025	biolink:NamedThing	chancre	The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.	mondoexuq1wtf												EFO:1001247|MESH:D002601																		owl:Class
MONDO:0100026	biolink:NamedThing	myoclonic encephalopathy in non-progressive disorder	This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.	mondoexuq1wtf					2018-06-22 23:56:39+00:00																									owl:Class
MONDO:0006251	biolink:NamedThing	inclusion body fibromatosis	A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.	mondoexuq1wtf	digital fibrous tumor of Reye|Reye's tumor|infantile digital fibromatosis|inclusion body fibromatosis (disease)|Reye tumor|infantile digital fibroma/fibromatosis|inclusion body fibromatosis		inclusion body fibromatosis (disease)									HP:0025197|EFO:1000301|NCIT:C3456																		owl:Class
MONDO:0014603	biolink:NamedThing	autosomal dominant nonsyndromic deafness 40	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.	mondoexuq1wtf	deafness, autosomal dominant 40|DFNA40|autosomal dominant nonsyndromic deafness type 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM|autosomal dominant deafness 40|CRYM autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 40											UMLS:C4084708|OMIM:616357|ICD10:H90.3|DOID:0110566																		owl:Class
MONDO:0004838	biolink:NamedThing	orthostatic proteinuria		mondoexuq1wtf	postural albuminuria											COHD:74080|ICD9:593.6|DOID:9617|UMLS:C0232867|ICD10:R80.2																		owl:Class
MONDO:0030924	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 5		mondoexuq1wtf	PRAAS5|proteasome-associated autoinflammatory syndrome 5											OMIM:619175																		owl:Class
MONDO:0015639	biolink:NamedThing	benign partial epilepsy with secondarily generalized seizures in infancy	Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	mondoexuq1wtf												ICD10:G40.1|UMLS:CN226718|Orphanet:166302																		owl:Class
MONDO:0003010	biolink:NamedThing	multilocular clear cell renal cell carcinoma	A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.	mondoexuq1wtf	renal cystadenocarcinoma|multilocular clear cell renal cell adenocarcinoma|multilocular clear cell carcinoma|multilocular clear cell renal cell carcinoma|multilocular cystic renal cell cancer|multilocular cystic renal cell carcinoma|multilocular cystic renal neoplasm of low malignant potential|multilocular cystic clear cell renal cell neoplasm of low malignant potential|multilocular cystic renal cell adenocarcinoma|MCRCC|cystadenocarcinoma of kidney|multilocular clear cell adenocarcinoma											SCTID:254916002|ICD10:C64|ICDO:8316/3|NCIT:C4524|DOID:4463|Orphanet:319287|ICD9:189.0|UMLS:C0346249																		owl:Class
MONDO:0044312	biolink:NamedThing	immunoskeletal dysplasia with neurodevelopmental abnormalities		mondoexuq1wtf	ISDNA|IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities											UMLS:C4479452|OMIM:617425																		owl:Class
MONDO:0044308	biolink:NamedThing	bardet-biedl syndrome 21	BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).	mondoexuq1wtf	BBS21|Bardet-Biedl syndrome 21											UMLS:C4319932|OMIM:617406																		owl:Class
MONDO:0018028	biolink:NamedThing	tetrasomy 5p	Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	mondoexuq1wtf	Isochromosome 5p|tetrasomy type 5p											Orphanet:3309|ICD10:Q99.8|SCTID:766755003																		owl:Class
MONDO:0012837	biolink:NamedThing	inflammatory bowel disease 15	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.	mondoexuq1wtf	inflammatory bowel disease type 15|IBD15|inflammatory bowel disease 15											DOID:0110897|MESH:C567381|OMIM:612255|UMLS:C2677094																		owl:Class
MONDO:0016724	biolink:NamedThing	papillary tumor of the pineal region	Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	mondoexuq1wtf	PTPR											ICD10:D44.5|Orphanet:251915|UMLS:C2985219|ICDO:9395/3|ONCOTREE:PTPR|NCIT:C92624|EFO:1000451																		owl:Class
MONDO:0024507	biolink:NamedThing	aniridia 1		mondoexuq1wtf	AN1|cataract, congenital, with late-onset corneal dystrophy|aniridia 1|aniridia II, formerly|aniridia II											SCTID:253231007|OMIM:106210																		owl:Class
MONDO:0007717	biolink:NamedThing	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain		mondoexuq1wtf	HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain											OMIM:142309|UMLS:C1840647																		owl:Class
MONDO:0007957	biolink:NamedThing	mediosternal depigmentation line		mondoexuq1wtf	mediosternal depigmentation line											OMIM:155200																		owl:Class
MONDO:0025712	biolink:NamedThing	angioedema, hereditary, 4		mondoexuq1wtf	HAE4											OMIM:619360																		owl:Class
MONDO:0600025	biolink:NamedThing	hydrosalpinx	Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.	mondoexuq1wtf	blocked fallopian tube|fallopian tube obstruction							http://orcid.org/0000-0002-5460-8025				NCIT:C142886														https://github.com/monarch-initiative/mondo/issues/3249				owl:Class
MONDO:0033010	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 1		mondoexuq1wtf	erythrokeratodermia variabilis|Greither disease|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis ET progressiva 1|erythrokeratodermia Figurata, congenital familial, in plaques|EKVP1|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with erythema Gyratum Repens|keratosis palmoplantaris transgrediens Et progrediens											OMIM:133200|DOID:0111195																		owl:Class
MONDO:0004537	biolink:NamedThing	intestinal variant cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.	mondoexuq1wtf	cervical mucinous adenocarcinoma, intestinal-type|cervical mucinous adenocarcinoma, intestinal variant|intestinal type mucinous carcinoma											ONCOTREE:ICEMU|UMLS:C1516422|NCIT:C40203|DOID:8339																		owl:Class
MONDO:0100276	biolink:NamedThing	disorder of defective peroxisomal and mitochondrial fission	A disease that has its basis in the disruption of peroxisome and mitochondrial fission.	mondoexuq1wtf	disorder of defective peroxisomal and mitochondrial fission|peroxisome and mitochronrial fission disease							http://orcid.org/0000-0001-5208-3432																		https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0012366	biolink:NamedThing	gallbladder disease 3		mondoexuq1wtf	GBD3|gallbladder disease 3											OMIM:609919|MESH:C563686|UMLS:C1835924																		owl:Class
MONDO:0017871	biolink:NamedThing	bilateral massive adrenal hemorrhage		mondoexuq1wtf	BMAH|bilateral adrenal hemorrhage											ICD10:E27.4|UMLS:CN203920|Orphanet:319205																		owl:Class
MONDO:0006382	biolink:NamedThing	poorly differentiated thyroid gland carcinoma	An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)	mondoexuq1wtf	insular carcinoma|poorly differentiated thyroid gland cancer|poorly differentiated thyroid carcinoma|poorly differentiated carcinoma of the thyroid gland|thyroid gland poorly differentiated carcinoma|poorly differentiated thyroid cancer|poorly differentiated thyroid gland carcinoma|poorly differentiated carcinoma of thyroid gland											NCIT:C6040|EFO:1000489|ICDO:8337/3|ONCOTREE:THPD|UMLS:C1266050																		owl:Class
MONDO:0012702	biolink:NamedThing	celiac disease, susceptibility to, 6		mondoexuq1wtf	gluten-sensitive enteropathy, susceptibility to, 6|celiac disease, susceptibility to, 6|autoimmune disease, susceptibility to, 5|CELIAC6											OMIM:611598																		owl:Class
MONDO:0019788	biolink:NamedThing	non-secreting paraganglioma	Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.	mondoexuq1wtf	non-functioning paraganglioma											Orphanet:94080|SCTID:764999002																		owl:Class
MONDO:0009375	biolink:NamedThing	hymen, imperforate		mondoexuq1wtf	hymen, imperforate											ICD10:Q52.3|SCTID:65937002|MESH:C562397|OMIM:237100|ICD9:752.42|COHD:193587																		owl:Class
MONDO:0018644	biolink:NamedThing	autosomal dominant complex spastic paraplegia type 9B		mondoexuq1wtf	AD-SPG9B					Editor note: check this						Orphanet:447757|UMLS:CN237702|ICD10:G11.4																		owl:Class
MONDO:0025356	biolink:NamedThing	azoospermia, obstructive, with nephrolithiasis		mondoexuq1wtf	OAZON											OMIM:301060																		owl:Class
MONDO:0100002	biolink:NamedThing	food protein-induced allergic proctocolitis	A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.	mondoexuq1wtf	milk protein proctocololitis|FPIPC|allergic proctocolitis				2018-03-14 03:32:19+00:00																									owl:Class
MONDO:0001686	biolink:NamedThing	anatomical narrow angle borderline glaucoma		mondoexuq1wtf												ICD9:365.02|DOID:13327																		owl:Class
MONDO:0012116	biolink:NamedThing	spinocerebellar ataxia type 8	Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.	mondoexuq1wtf	spinocerebellar ataxia 8|spinocerebellar ataxia type 8|SCA8											DOID:0050959|SCTID:715753001|UMLS:C1837454|UMLS:C4275024|GARD:0004956|ICD10:G11.2|Orphanet:98760|OMIM:608768																		owl:Class
MONDO:0015883	biolink:NamedThing	hidrotic ectodermal dysplasia, Halal type	Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	mondoexuq1wtf	Halal Setton Wang syndrome|Halal-Setton-Wang syndrome|ectodermal dysplasia with skin anomalies and intellectual disability|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|hidrotic ectodermal dysplasia Halal type											Orphanet:1809|ICD10:Q82.8|MESH:C535621|UMLS:C2930953|GARD:0000280|SCTID:721147000																		owl:Class
MONDO:0016630	biolink:NamedThing	isolated delta-storage pool disease	Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.	mondoexuq1wtf	isolated dense-SPD|isolated dense-storage pool disease|isolated delta-SPD											ICD10:D69.1|UMLS:CN201837|Orphanet:248340																		owl:Class
MONDO:0006979	biolink:NamedThing	steatitis	A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)	mondoexuq1wtf												UMLS:C0038235|MESH:D013231|DOID:4025|EFO:1001191|SCTID:33882007																		owl:Class
MONDO:0018376	biolink:NamedThing	secondary non-traumatic avascular necrosis		mondoexuq1wtf	secondary non-traumatic AVN											ICD10:M87.1|ICD10:M87.3|Orphanet:399180																		owl:Class
MONDO:0006782	biolink:NamedThing	hemometra	Blood-filled uterus.	mondoexuq1wtf	hematometra											EFO:1000962|SCTID:38280009|ICD9:621.4|ICD10:N85.7|DOID:9958|COHD:195876|MESH:D006409																		owl:Class
MONDO:0009079	biolink:NamedThing	DOORS syndrome	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.	mondoexuq1wtf	drc syndrome|DOORS syndrome|brachydactyly due to absence of distal phalanges|autosomal recessive deafness-onychodystrophy syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|door syndrome|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|DOORS|deafness-onychoosteodystrophy-intellectual disability syndrome|Digitorenocerebral syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|Eronen syndrome											SCTID:719800009|OMIM:220500|ICD10:Q87.8|DOID:0111627|GARD:0001685|Orphanet:79500|MESH:C563052														https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome				owl:Class
MONDO:0005367	biolink:NamedThing	heroin dependence	Physical and psychological dependence on the drug heroin.	mondoexuq1wtf	Heroin addiction											NCIT:C34694|EFO:0004240|SCTID:231477003|UMLS:CN236651|DOID:9976|MESH:D006556																		owl:Class
MONDO:0019426	biolink:NamedThing	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.	mondoexuq1wtf	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis											Orphanet:85330|GARD:0012489|ICD10:Q87.8|UMLS:CN206182																		owl:Class
MONDO:0011325	biolink:NamedThing	Fanconi anemia complementation group F	Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.	mondoexuq1wtf	Fanconi anemia complementation group type F|Fanconi Anemia, complementation group type F|FANCF|Fanconi anemia, complementation group F											EFO:0009045|OMIM:603467|NCIT:C125707|DOID:0111088																		owl:Class
MONDO:0020544	biolink:NamedThing	streptococcal toxic-shock syndrome	Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.	mondoexuq1wtf	Streptococcus toxic shock syndrome|streptococcal TSS|Streptococcus caused toxic shock syndrome											MedDRA:10044251|SCTID:240451000|UMLS:C0343532|ICD10:A48.3|Orphanet:99918																		owl:Class
MONDO:0020453	biolink:NamedThing	congenital partial pulmonary venous return anomaly	Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.	mondoexuq1wtf	Partial anomalous pulmonary Venous connection|Partial anomalous pulmonary Venous return											ICD10:Q26.3|NCIT:C99004|SCTID:68237008|Orphanet:99124																		owl:Class
MONDO:0016000	biolink:NamedThing	familial isolated hypoparathyroidism due to impaired PTH secretion		mondoexuq1wtf												Orphanet:189466|ICD10:E20.8|UMLS:CN200646																		owl:Class
MONDO:0001787	biolink:NamedThing	hepatic infarction		mondoexuq1wtf	infarct of liver											ICD9:573.4|ICD10:K76.3|DOID:13738|COHD:194417|UMLS:C0151731|SCTID:17890003																		owl:Class
MONDO:0007975	biolink:NamedThing	meralgia paraesthetica, familial		mondoexuq1wtf	meralgia paraesthetica, familial											MESH:C563590|UMLS:C1835026|OMIM:156220																		owl:Class
MONDO:0006464	biolink:NamedThing	thyroid gland mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.	mondoexuq1wtf	thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma											NCIT:C7601|EFO:1000591|UMLS:C1336754																		owl:Class
MONDO:0008855	biolink:NamedThing	MHC class II deficiency	Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.	mondoexuq1wtf	BARE lymphocyte syndrome, type II|BLS|Bare lymphocyte syndrome, type II, complementation group D|Bare lymphocyte syndrome|SCID, HLA Class II-negative|Bare lymphocyte syndrome, type II|SCID, HLA Class 2-negative|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|Bare lymphocyte syndrome, type II, complementation group B|SCID due to absent class II HLA antigens|severe combined immunodeficiency, HLA class ii-negative|BLS 2|BLS type II|Bare lymphocyte syndrome type 2|Bare lymphocyte syndrome 2|BARE lymphocyte syndrome, type II, complementation group E, included|BARE lymphocyte syndrome, type II, complementation group D, included|HLA class 2-negative severe combined immunodeficiency|BARE lymphocyte syndrome, type II, complementation group B, included|Bare lymphocyte syndrome, type II, complementation group C|MHC class II expression deficiency|bare lymphocyte syndrome type II|immunodeficiency by defective expression of HLA class 2|Bare lymphocyte syndrome, type II, complementation group E|BARE lymphocyte syndrome, type II, complementation group C, included|severe combined immunodeficiency, HLA Class II-negative|Bare lymphocyte syndrome, type II, complementation group A|immunodeficiency by defective expression of HLA class type 2|HLA class 2-negative SCID|major histocompatibility complex class II expression deficiency|BLSII|Bls, type 2|BARE lymphocyte syndrome|BLS, type II|Bare lymphocyte syndrome, type 2											Orphanet:572|NCIT:C3895|UMLS:CN239286|SCTID:71904008|ICD10:D81.6|OMIM:209920|ICD10:D81.7|GARD:0000824|DOID:5812|MESH:C537079														https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2				owl:Class
MONDO:0008602	biolink:NamedThing	triglyceride storage disease, type 2		mondoexuq1wtf	triglyceride storage disease, type II											OMIM:190430|MESH:C566030|UMLS:C1860820																		owl:Class
MONDO:0021750	biolink:NamedThing	pyonephrosis	Pus within the collecting system of the kidney.	mondoexuq1wtf	Pyonephrosis|pyonephrosis|Hydronephrosis, Infected|Infected Hydronephrosis											UMLS:C0034216|MESH:D053018|SCTID:48631008|NCIT:C123032																		owl:Class
MONDO:0013109	biolink:NamedThing	leukemia, acute lymphocytic, susceptibility to, 2		mondoexuq1wtf	ALL2|leukemia, acute lymphoblastic, susceptibility to, 2|leukemia, acute lymphocytic, susceptibility to, 2											UMLS:C2751593|OMIM:613067																		owl:Class
MONDO:0013831	biolink:NamedThing	keratoconus 6		mondoexuq1wtf	keratoconus 6|KTCN6											UMLS:C3553306|OMIM:614623																		owl:Class
MONDO:0012100	biolink:NamedThing	major depressive disorder 2		mondoexuq1wtf	unipolar depression 2|MDD2|major depressive disorder 2|major depressive disorder type 2											OMIM:608691|UMLS:C1837529|MESH:C563875																		owl:Class
MONDO:0030864	biolink:NamedThing	Ritscher-Schinzel syndrome 3		mondoexuq1wtf	RTSC3|Ritscher-Schinzel syndrome 3											OMIM:619135																		owl:Class
MONDO:0054838	biolink:NamedThing	cardiomyopathy, familial hypertrophic 27		mondoexuq1wtf	CMH27|cardiomyopathy, FAMILIAL hypertrophic 27											UMLS:CN252335|OMIM:618052																		owl:Class
MONDO:0009720	biolink:NamedThing	Keipert syndrome	Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	mondoexuq1wtf	Keipert syndrome|nasodigitoacoustic syndrome|KPTS|nasodigitoacoustic syndrome, formerly											UMLS:C1850627|OMIM:255980|MESH:C538337|Orphanet:2662|SCTID:763774001|OMIM:301026|ICD10:Q87.0|GARD:0000267																		owl:Class
MONDO:0003626	biolink:NamedThing	uterine ligament serous adenocarcinoma	A rare serous adenocarcinoma that arises from the uterine ligament.	mondoexuq1wtf	uterine ligament serous adenocarcinoma											NCIT:C40136|DOID:5747|UMLS:C1519872																		owl:Class
MONDO:0019309	biolink:NamedThing	late-onset junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.	mondoexuq1wtf	EB progressive|JEB-lo											ICD10:Q81.8|UMLS:C4304724|Orphanet:79406|SCTID:719432000|UMLS:CN205949|GARD:0012921														https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa				owl:Class
MONDO:0016220	biolink:NamedThing	congenital temporomandibular joint ankylosis	Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	mondoexuq1wtf	congenital trismus											ICD10:K07.6|SCTID:763215008|Orphanet:210576																		owl:Class
MONDO:0013149	biolink:NamedThing	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features		mondoexuq1wtf	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features											OMIM:613124|UMLS:C2751073|MESH:C567731																		owl:Class
MONDO:0001552	biolink:NamedThing	dyscalculia	A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.	mondoexuq1wtf	mathematics disorder|dyscalculia|disorder of arithmetical skills|dyscalculia (disease)		dyscalculia (disease)									SCTID:47916000|NCIT:C97165|ICD9:315.1|MESH:D060705|DOID:12568|HP:0002442																		owl:Class
MONDO:0017462	biolink:NamedThing	congenital pseudoarthrosis of the tibia	A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.	mondoexuq1wtf	congenital pseudarthrosis of tibia|congenital pseudarthrosis of the tibia											SCTID:55379003|Orphanet:295018|UMLS:C0265661|NCIT:C132080|ICD10:Q74.2																		owl:Class
MONDO:0033654	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 19		mondoexuq1wtf	MC4DN19											OMIM:619063																		owl:Class
MONDO:0014738	biolink:NamedThing	autosomal dominant nonsyndromic deafness 69	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.	mondoexuq1wtf	deafness, congenital, unilateral or asymmetric|DFNA69|autosomal dominant deafness 69|DCUA|deafness, autosomal dominant 69|autosomal dominant nonsyndromic deafness type 69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|unilateral or asymmetric congenital deafness|KITLG autosomal dominant nonsyndromic deafness											DOID:0110590|OMIM:616697|UMLS:C4225241|ICD10:H90.3																		owl:Class
MONDO:0017353	biolink:NamedThing	neonatal glycine encephalopathy	Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.	mondoexuq1wtf	neonatal non-ketotic hyperglycinemia|classic glycine encephalopathy|neonatal NKH											Orphanet:289857|ICD10:E72.5																		owl:Class
MONDO:0020818	biolink:NamedThing	secondary dentine	Dentin formed by normal pulp after completion of root end formation.	mondoexuq1wtf	Secondary dentin|reparative dentine|secondary dentin|irregular dentin|SECOND DENTIN|irregular dentine|Sclerotic dentine|sclerotic dentine|Reparative dentine|tertiary dentine|DENTIN SECOND|Irregular dentin|secondary dentine|Secondary dentine|Dentin, Secondary|Dentins, Secondary|Tertiary dentine|Irregular dentine|Secondary Dentins|Secondary Dentin											SCTID:59818004|MESH:D003809|UMLS:C0011434																		owl:Class
MONDO:0003245	biolink:NamedThing	aflatoxin-related hepatocellular carcinoma	A hepatocellular carcinoma that develops following exposure to aflatoxin.	mondoexuq1wtf	aflatoxins-related hepatocellular carcinoma|aflatoxins-related hepatocellular cancer											NCIT:C27922|UMLS:C1332222|DOID:5022																		owl:Class
MONDO:0043154	biolink:NamedThing	neonatal ovarian cyst		mondoexuq1wtf	fetal ovarian cyst											UMLS:C2931186|MESH:C536396|GARD:0003934																		owl:Class
MONDO:0017557	biolink:NamedThing	Madelung deformity, bilateral		mondoexuq1wtf												ICD10:Q74.0|Orphanet:295223																		owl:Class
MONDO:0012167	biolink:NamedThing	atrial fibrillation, familial, 2		mondoexuq1wtf	atrial fibrillation, familial, 2|ATFB2											MESH:C563903|UMLS:C1837812|OMIM:608988																		owl:Class
MONDO:0001265	biolink:NamedThing	schizophreniform disorder	A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.	mondoexuq1wtf												ICD9:295.4|DOID:11328|ICD10:F20.81|COHD:444434|NCIT:C94376|SCTID:88975006																		owl:Class
MONDO:0010559	biolink:NamedThing	MASA syndrome	MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.	mondoexuq1wtf	thumb, congenital Clasped, with intellectual disability|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|spastic paraplegia 1|thumb congenital clasped with intellectual disability|thumb congenital clasped with mental retardation|Gareis-Mason syndrome|crash syndrome|X-linked complicated hereditary spastic paraplegia type 1|spastic paraplegia 1, X-linked|X-linked corpus callosum agenesis|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|X-linked spastic paraplegia 1|thumb, congenital Clasped, with mental retardation|adducted thumb with intellectual disability|Clasped thumb and mental retardation|Clasped thumb and intellectual disability|mental retardation, aphasia, shuffling Gait, and adducted thumbs|MASA syndrome|spastic paraplegia, X-linked|adducted thumb with mental retardation|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|hereditary spastic paraplegia 1											UMLS:C0795953|ICD10:G11.4|OMIM:303350|GARD:0006986|SCTID:716996008|DOID:0060246|Orphanet:2466|NCIT:C129930																		owl:Class
MONDO:0032797	biolink:NamedThing	myopathy, congenital, with tremor		mondoexuq1wtf	Myogenic Tremor|MYOTREM|MYOPATHY, CONGENITAL, WITH TREMOR											OMIM:618524																		owl:Class
MONDO:0060578	biolink:NamedThing	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures		mondoexuq1wtf	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures|NEMMLAS											OMIM:617710|UMLS:C4540192|Orphanet:572798																		owl:Class
MONDO:0010720	biolink:NamedThing	partial androgen insensitivity syndrome	Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.	mondoexuq1wtf	androgen insensitivity, partial, with or without breast cancer|Reifenstein syndrome|pais|partial androgen resistance syndrome|type I familial incomplete male pseudohermaphroditism|PAIS|Reifenstein syndrome, partial|androgen insensitivity syndrome, partial|pseudohermaphroditism, incomplete male, type I|incomplete male pseudohermaphroditism|familial incomplete Male pseudohermaphroditism, type 1|androgen insensitivity, partial|androgen resistance syndrome, partial											GTR:AN0098649|MESH:C538435|GTR:AN0098650|OMIM:307300|UMLS:CN035075|ICD10:E34.52|OMIM:312100|GTR:AN0098654|SCTID:122811000119101|GTR:AN0098651|OMIM:312300|NCIT:C120192|GTR:AN0098655|GARD:0005692|GTR:AN0098652|ICD10:E34.5|Orphanet:90797														https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome				owl:Class
MONDO:0200000	biolink:NamedThing	uterine ligament adenosarcoma	An extremely rare adenosarcoma that arises from the uterine ligament.	mondoexuq1wtf	adenosarcoma of uterine ligament|uterine ligament adenosarcoma											NCIT:C102570|UMLS:C3640823																		owl:Class
MONDO:0011409	biolink:NamedThing	hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection		mondoexuq1wtf	hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|Sm2|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection											OMIM:604201																		owl:Class
MONDO:0012823	biolink:NamedThing	colorectal cancer, susceptibility to, 7		mondoexuq1wtf	colorectal cancer, susceptibility to, on chromosome 11|colorectal cancer, susceptibility to, 7|CRCS7											OMIM:612232																		owl:Class
MONDO:0008489	biolink:NamedThing	sternum, premature obliteration of sutures of		mondoexuq1wtf	sternum, premature obliteration of sutures of											OMIM:184800																		owl:Class
MONDO:0018165	biolink:NamedThing	venous thoracic outlet syndrome	Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.	mondoexuq1wtf	Venous cervical rib syndrome|effort subclavian vein thrombosis|Venous scalenus anticus syndrome|Venous hyperabduction syndrome|Paget-Schrotter disease|Venous costoclavicular syndrome|Venous TOS|Venous thoracic outlet compression syndrome|VTOS											SCTID:25981000119102|ICD10:G54.0|UMLS:C1956396|Orphanet:357131																		owl:Class
MONDO:0054665	biolink:NamedThing	pituitary adenoma 3, multiple types		mondoexuq1wtf	PITA3|pituitary adenoma 3, multiple types											UMLS:C4540135|OMIM:617686																		owl:Class
MONDO:0022496	biolink:NamedThing	arthrogryposis IUGR thoracic dystrophy	A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.	mondoexuq1wtf	Van Bervliet syndrome											GARD:0000782														https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy				owl:Class
MONDO:0010606	biolink:NamedThing	hernia, anterior diaphragmatic		mondoexuq1wtf	hernia, anterior diaphragmatic											MESH:C564413|OMIM:306950																		owl:Class
MONDO:0032930	biolink:NamedThing	intellectual developmental disorder with poor growth and with or without seizures or ataxia		mondoexuq1wtf	IDPOGSA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA											OMIM:618808																		owl:Class
MONDO:0001931	biolink:NamedThing	pericholangitis	Inflammation of the tissue surrounding the biliary ducts.	mondoexuq1wtf												SCTID:111373008|DOID:14272|NCIT:C34916|UMLS:C0031052																		owl:Class
MONDO:0021576	biolink:NamedThing	fallopian tube endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	mondoexuq1wtf	endometrium neoplasm of fallopian tube|fallopian tube endometrioid neoplasm|fallopian tube endometrioid tumor|fallopian tube endometrium neoplasm											NCIT:C40111|UMLS:C1517113																		owl:Class
MONDO:0001863	biolink:NamedThing	aorta atresia	An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.	mondoexuq1wtf	atresia and stenosis of aorta|congenital atresia and stenosis of aorta											DOID:14037|SCTID:204431007|ICD10:Q25.2|ICD9:747.22																		owl:Class
MONDO:0009828	biolink:NamedThing	palant cleft palate syndrome		mondoexuq1wtf	unusual facies, cleft palate, mental retardation, and limb abnormalities|unusual facies, cleft palate, intellectual disability, and limb abnormalities|Palant cleft palate syndrome											GARD:0004198|OMIM:260150|UMLS:C1850102|MESH:C538102														https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome				owl:Class
MONDO:0008398	biolink:NamedThing	salivary substance, Clostridium botulinum type		mondoexuq1wtf	salivary substance, Clostridium botulinum type											UMLS:C1867056|OMIM:180950																		owl:Class
MONDO:0033565	biolink:NamedThing	oocyte maturation defect 9		mondoexuq1wtf	OOCYTE MATURATION DEFECT 9|OOMD9											OMIM:619011																		owl:Class
MONDO:0015314	biolink:NamedThing	primary laryngeal lymphangioma	Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.	mondoexuq1wtf												SCTID:763617006|ICD10:D18.1|Orphanet:137926																		owl:Class
MONDO:0004801	biolink:NamedThing	unilateral hypoactive labyrinth		mondoexuq1wtf												DOID:9496|ICD9:386.53|UMLS:C0155517																		owl:Class
MONDO:0060550	biolink:NamedThing	polydactyly, postaxial, type a7		mondoexuq1wtf	polydactyly, postaxial, type A7|PAPA7											OMIM:617642																		owl:Class
MONDO:0010705	biolink:NamedThing	ouabain resistance		mondoexuq1wtf	ouabain resistance|OUBR											OMIM:311350																		owl:Class
MONDO:0017563	biolink:NamedThing	congenital patella dislocation, bilateral		mondoexuq1wtf												Orphanet:295237|ICD10:Q74.1																		owl:Class
MONDO:0017471	biolink:NamedThing	congenital patella dislocation		mondoexuq1wtf	congenital patellar dislocation|congenital dislocation of the patella											SCTID:205067002|GARD:0009692|MESH:C538081|Orphanet:295036|ICD10:Q74.1														https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella				owl:Class
MONDO:0012448	biolink:NamedThing	hereditary spastic paraplegia 33	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.	mondoexuq1wtf	autosomal dominant spastic paraplegia 33|ZFYVE27 hereditary spastic paraplegia|SPG33|hereditary spastic paraplegia caused by mutation in ZFYVE27|spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33											MESH:C565214|OMIM:610244|UMLS:C1853251|DOID:0110784																		owl:Class
MONDO:0015761	biolink:NamedThing	trisomy 10p	Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	mondoexuq1wtf	chromosome 10p duplication|partial trisomy 10p|10p trisomy|Duplication 10p|trisomy type 10p|10p duplication											ICD10:Q92.2|GARD:0005299|SCTID:717157006|UMLS:C4082793|MESH:C538290|Orphanet:171929																		owl:Class
MONDO:0009170	biolink:NamedThing	endocardial fibroelastosis and coarctation of abdominal aorta		mondoexuq1wtf	endocardial fibroelastosis and coarctation of abdominal aorta											MESH:C565592|UMLS:C1856971|OMIM:226100																		owl:Class
MONDO:0007901	biolink:NamedThing	levator-medial rectus synkinesis		mondoexuq1wtf	levator-medial rectus synkinesis|oculomotor-levator synkinesis											UMLS:C1835403|OMIM:151610|MESH:C563625																		owl:Class
MONDO:0015677	biolink:NamedThing	cardiac diverticulum	Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.	mondoexuq1wtf	cardiac diverticulum (disease)|Cardiac diverticulum		cardiac diverticulum (disease)									ICD10:Q24.8|Orphanet:1686|UMLS:CN226726|GARD:0001094|HP:0100571																		owl:Class
MONDO:0002936	biolink:NamedThing	scrotum basal cell carcinoma	A scrotal carcinoma that involves the basal cell.	mondoexuq1wtf	scrotal basal cell carcinoma|basal cell carcinoma of scrotum|scrotum skin basal cell carcinoma|basal cell scrotal carcinoma|skin basal cell carcinoma of scrotum|basal cell carcinoma of the scrotum											DOID:4278|UMLS:C1335934|NCIT:C6386																		owl:Class
MONDO:0019949	biolink:NamedThing	zebra body myopathy		mondoexuq1wtf												ICD10:G71.2|SCTID:34513009|Orphanet:97240|ICD9:359.89|UMLS:C0270969																		owl:Class
MONDO:0010316	biolink:NamedThing	FG syndrome 3		mondoexuq1wtf	FG syndrome 3|FGS3											GARD:0009924|OMIM:300406|UMLS:C1845567														https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3				owl:Class
MONDO:0030933	biolink:NamedThing	Joubert syndrome 37		mondoexuq1wtf	Joubert syndrome 37|JBTS37											OMIM:619185																		owl:Class
MONDO:0003503	biolink:NamedThing	fallopian tube squamous cell carcinoma	A rare squamous cell carcinoma that arises from the fallopian tube.	mondoexuq1wtf	squamous cell carcinoma of the fallopian tube|fallopian tube squamous cell cancer|squamous cell carcinoma of fallopian tube|fallopian tube squamous cell carcinoma											UMLS:C1333596|DOID:5540|NCIT:C6282																		owl:Class
MONDO:0012934	biolink:NamedThing	leukemia, chronic lymphocytic, susceptibility to, 3		mondoexuq1wtf	leukemia, chronic lymphocytic, susceptibility to, type 3|Clls3|leukemia, chronic lymphocytic, susceptibility to, 3											OMIM:612557																		owl:Class
MONDO:0019585	biolink:NamedThing	scleromyxedema without monoclonal gammopathy	Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.	mondoexuq1wtf												ICD10:L98.5|Orphanet:90400																		owl:Class
MONDO:0003983	biolink:NamedThing	synchronous bilateral breast carcinoma	Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.	mondoexuq1wtf												NCIT:C40370|UMLS:C1515107|DOID:6742																		owl:Class
MONDO:0025708	biolink:NamedThing	megacystis-microcolon-intestinal hypoperistalsis syndrome 2		mondoexuq1wtf	MMIHS2											OMIM:619351																		owl:Class
MONDO:0022509	biolink:NamedThing	asternia	Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.	mondoexuq1wtf	absent sternum											GARD:0009221														https://rarediseases.info.nih.gov/diseases/9221/asternia				owl:Class
MONDO:0001808	biolink:NamedThing	chronic subinvolution of uterus		mondoexuq1wtf												UMLS:C0156370|ICD9:621.1|SCTID:198315005|COHD:201903|DOID:13811																		owl:Class
MONDO:0015805	biolink:NamedThing	intestinal botulism	A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).	mondoexuq1wtf	intestinal toxemia botulism|intestinal toxin-mediated botulism|intestinal colonization botulism											UMLS:C1443901|ICD10:A05.1|DOID:0050141|SCTID:409563004|Orphanet:178481																		owl:Class
MONDO:0009975	biolink:NamedThing	reticulum cell sarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.	mondoexuq1wtf	large-cell Lymphomas|sarcoma of reticular cell|interdigitating cell sarcoma|reticulum cell sarcoma|reticular cell sarcoma|Reticulum cell sarcoma|histiocytic lymphoma|reticulosarcoma					Editor note: check this						ICD10:C96.4|Orphanet:86900|ICD9:200.7|SCTID:373168002|OMIM:267730|NCIT:C27824|EFO:0005287|ICD9:200.0|ICD9:200.00|DOID:8538|MedDRA:10038804																		owl:Class
MONDO:0006862	biolink:NamedThing	myofascial pain syndrome	Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.	mondoexuq1wtf												DOID:431|SCTID:24693007|UMLS:C0027073|ICD9:729.1|MESH:D009209|EFO:1001054|MedDRA:10048780																		owl:Class
MONDO:0014207	biolink:NamedThing	age related macular degeneration 14	An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.	mondoexuq1wtf	macular Degeneration, age-related, type 14|macular degeneration, age-related, 14|macular Degeneration, age-related, reduced risk of|age related macular degeneration type 14|ARMD14											DOID:0110026|OMIM:615489																		owl:Class
MONDO:0022756	biolink:NamedThing	chromosome 1q deletion	Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	mondoexuq1wtf	1q monosomy|1q deletion|partial monosomy 1q|deletion 1q|monosomy 1q											GARD:0008669|UMLS:CN072190														https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion				owl:Class
MONDO:0004430	biolink:NamedThing	penis mixed squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).	mondoexuq1wtf	mixed squamous cell carcinoma of the penis											DOID:8009|UMLS:C1513369|NCIT:C39959																		owl:Class
MONDO:0017917	biolink:NamedThing	maternally-inherited spastic paraplegia	A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	mondoexuq1wtf	maternally-inherited SPG|MT-ATP6-related mitochondrial spastic paraplegia											Orphanet:320360|ICD10:G11.4																		owl:Class
MONDO:0044303	biolink:NamedThing	congenital heart defects and ectodermal dysplasia		mondoexuq1wtf	congenital heart defects and ectodermal dysplasia|CHDED											UMLS:C4479250|OMIM:617364																		owl:Class
MONDO:0002952	biolink:NamedThing	follicular basal cell carcinoma		mondoexuq1wtf	skin follicular basal cell carcinoma|follicular (pilar) basal cell carcinoma											DOID:4295|UMLS:C1883723|NCIT:C27538|SCTID:402526009																		owl:Class
MONDO:0001434	biolink:NamedThing	inflammatory spondylopathy		mondoexuq1wtf	inflammatory spondylopathies in disease classified elsewhere|inflammatory spondylopathies in disease EC|inflammatory spondylopathy in disease classified elsewhere											ICD9:720.9|SCTID:202649003|COHD:133295|ICD9:720.81|DOID:12105|ICD9:720.89																		owl:Class
MONDO:0022866	biolink:NamedThing	corneal dystrophy pigmentary anomaly malabsorption		mondoexuq1wtf												GARD:0001530														https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption				owl:Class
MONDO:0011753	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 2		mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2|EIG2											DOID:0111317|OMIM:606972																		owl:Class
MONDO:0032915	biolink:NamedThing	long QT syndrome 16		mondoexuq1wtf	LONG QT SYNDROME 16|Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LQT16											OMIM:618782																		owl:Class
MONDO:0600009	biolink:NamedThing	severe hypophosphatasia	Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.	mondoexuq1wtf								http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0005324	biolink:NamedThing	seasonal allergic rhinitis	Allergic rhinitis caused by outdoor allergens.	mondoexuq1wtf	seasonal allergic rhinitis|hay fever											NCIT:C92188|SCTID:367498001|COHD:4280726|MESH:D006255|EFO:0003956																		owl:Class
MONDO:0030926	biolink:NamedThing	spermatogenic failure 51		mondoexuq1wtf	spermatogenic failure 51|SPGF51											OMIM:619177																		owl:Class
MONDO:0019771	biolink:NamedThing	oromandibular dystonia	Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.	mondoexuq1wtf												Orphanet:93958|UMLS:C0393607|DOID:0050843|ICD10:G24.4																		owl:Class
MONDO:0021284	biolink:NamedThing	carcinoma in situ of ureter	A in situ carcinoma that involves the ureter.	mondoexuq1wtf	stage 0is carcinoma of the ureter|ureter carcinoma in situ|stage 0is ureter urothelial carcinoma aJCC v7|stage 0is ureteral carcinoma|ureter cancer stage 0is|ureteral carcinoma in situ|stage 0 ureter carcinoma|stage 0is ureter cancer aJCC v7|stage 0is ureter cancer|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|carcinoma in situ of ureter|carcinoma in situ of the ureter|stage 0is ureter carcinoma|ureter in situ carcinoma|stage 0is ureter urothelial carcinoma											UMLS:C0346267|NCIT:C4529|SCTID:92782006|ICD9:233.9																		owl:Class
MONDO:0023214	biolink:NamedThing	gas bloat syndrome		mondoexuq1wtf	post-fundoplication syndrome											UMLS:C2930966|GARD:0006484|MESH:C535647														https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome				owl:Class
MONDO:0000417	biolink:NamedThing	early onset absence epilepsy	A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.	mondoexuq1wtf												DOID:0050708																		owl:Class
MONDO:0008739	biolink:NamedThing	agenesis of cerebral white matter		mondoexuq1wtf	agenesis of cerebral white matter											OMIM:202600																		owl:Class
MONDO:0017327	biolink:NamedThing	primary non-gestational choriocarcinoma of ovary	Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.	mondoexuq1wtf	NGCO|primary non-gestational ovarian choriocarcinoma											UMLS:CN202967|Orphanet:289356|UMLS:C4274424|SCTID:716588005|ICD10:C56																		owl:Class
MONDO:0008242	biolink:NamedThing	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction		mondoexuq1wtf	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome											ICD9:583.9|SCTID:237612000|UMLS:C1809475|GARD:0009267|MESH:C538113|OMIM:172500																		owl:Class
MONDO:0008035	biolink:NamedThing	muscular hypoplasia, congenital universal, of Krabbe		mondoexuq1wtf	muscular hypoplasia, congenital universal, of Krabbe											MESH:C563553|OMIM:159100|UMLS:C1834651																		owl:Class
MONDO:0019465	biolink:NamedThing	nodal marginal zone B-cell lymphoma	Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.	mondoexuq1wtf	nodal marginal zone B-cell lymphoma|Monocytoid B-cell lymphoma|NMZL|nodal marginal zone B-cell lymph.|nodal marginal zone lymphoma											DOID:0080211|Orphanet:86867|SCTID:277623009|ONCOTREE:NMZL|NCIT:C8863|UMLS:C0855139|MedDRA:10029460|ICD10:C83.0																		owl:Class
MONDO:0017193	biolink:NamedThing	symptomatic form of Coffin-Lowry syndrome in female carriers		mondoexuq1wtf												Orphanet:276630|ICD10:Q87.0|UMLS:CN202633																		owl:Class
MONDO:0013244	biolink:NamedThing	brachydactyly type E2	Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.	mondoexuq1wtf	BDE2|PTHLH brachydactyly type E|brachydactyly type E caused by mutation in PTHLH|brachydactyly, type E2											DOID:0110976|UMLS:C3150644|OMIM:613382																		owl:Class
MONDO:0012043	biolink:NamedThing	Reis-Bucklers corneal dystrophy	Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.	mondoexuq1wtf	geographic corneal dystrophy|CDRB|corneal dystrophy, REIS-Bucklers type|Reis-Bucklers corneal dystrophy|superficial granular corneal dystrophy|anterior limiting membrane dystrophy type 1|corneal dystrophy of Bowman Layer, type 1|Reis Bucklers dystrophy|corneal dystrophy geographic|atypical granular corneal dystrophy|Reis Bucklers corneal dystrophy|corneal dystrophy of Bowman layer type 1|anterior limiting membrane dystrophy type I|corneal dystrophy of Bowman layer type I|CDB1|granular corneal dystrophy type III|RBCD|Reis-Bücklers corneal dystrophy|corneal dystrophy, geographic|granular corneal dystrophy, type 3|granular corneal dystrophy type 3|corneal dystrophy Reis Bucklers type											Orphanet:98961|UMLS:C0339278|ICD10:H18.5|MESH:C535476|DOID:0060453|ICD9:371.52|GARD:0009276|OMIM:608470|SCTID:231930000																		owl:Class
MONDO:0032925	biolink:NamedThing	respiratory papillomatosis, juvenile recurrent, congenital		mondoexuq1wtf	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL|JRRP											OMIM:618803																		owl:Class
MONDO:0012098	biolink:NamedThing	spinocerebellar ataxia type 20	Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.	mondoexuq1wtf	spinocerebellar ataxia with dysphonia|SCA20|spinocerebellar ataxia type 20|chromosome 11q12 duplication syndrome, 260-Kb|spinocerebellar ataxia with spasmodic cough|spinocerebellar ataxia 20											ICD10:G11.2|MESH:C537199|OMIM:608687|GARD:0009997|SCTID:718771009|Orphanet:101110|DOID:0050971|UMLS:C1837541																		owl:Class
MONDO:0003921	biolink:NamedThing	posterior foramen magnum meningioma	A meningioma that affects the posterior foramen magnum.	mondoexuq1wtf	meningioma of the posterior Foramen magnum|meningioma of posterior Foramen magnum											UMLS:C1335449|DOID:6553|NCIT:C5282																		owl:Class
MONDO:0012493	biolink:NamedThing	restless legs syndrome, susceptibility to, 4		mondoexuq1wtf	RLS 4|restless legs syndrome, susceptibility to, 4|RLS4											GARD:0010271|OMIM:610439																		owl:Class
MONDO:0030026	biolink:NamedThing	retinal dystrophy with leukodystrophy		mondoexuq1wtf	RDLKD|retinal dystrophy with leukodystrophy|RETINAL DYSTROPHY WITH LEUKODYSTROPHY											OMIM:618863																		owl:Class
MONDO:0012895	biolink:NamedThing	torsion dystonia 17	A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.	mondoexuq1wtf	DYT17|torsion dystonia type 17|primary dystonia, DYT17 type|dystonia 17, torsion, autosomal recessive											Orphanet:370103|UMLS:C2676281|DOID:0090042|OMIM:612406|ICD10:G24.1|MESH:C567319																		owl:Class
MONDO:0019746	biolink:NamedThing	cystinuria type B		mondoexuq1wtf												ICD10:E72.0|UMLS:C1857389|Orphanet:93613																		owl:Class
MONDO:0001811	biolink:NamedThing	tetanic cataract	A cataract resulting from hypocalcemia.	mondoexuq1wtf	hypocalcaemic cataract											NCIT:C35068|ICD9:366.42|SCTID:68216000|DOID:13822|UMLS:C0039613																		owl:Class
MONDO:0010429	biolink:NamedThing	intellectual disability, X-linked 96	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.	mondoexuq1wtf	non-syndromic X-linked intellectual disability caused by mutation in SYP|mental retardation, X-linked type 96|intellectual disability, X-linked 96|mental retardation, X-linked 96|SYP non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 96|MRX96											UMLS:C3275408|OMIM:300802																		owl:Class
MONDO:0005584	biolink:NamedThing	congenital left-sided heart lesions	Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.	mondoexuq1wtf												EFO:0005938																		owl:Class
MONDO:0010082	biolink:NamedThing	subaortic stenosis-short stature syndrome		mondoexuq1wtf	subaortic stenosis--short stature syndrome|Onat syndrome|subaortic stenosis short stature syndrome											MESH:C537749|Orphanet:3191|UMLS:C0795947|GARD:0000405|OMIM:271960														https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome				owl:Class
MONDO:0008530	biolink:NamedThing	teeth, odd shapes of		mondoexuq1wtf	teeth, odd shapes of|Lobodontia|conical teeth, multiple											MESH:C566076|OMIM:187000|UMLS:C1861274																		owl:Class
MONDO:0004635	biolink:NamedThing	postcricoid region cancer	A primary or metastatic malignant neoplasm that affects the postcricoid region.	mondoexuq1wtf	malignant tumor of pharyngoesophageal junction|malignant tumor of the postcricoid area|malignant tumor of postcricoid area|malignant postcricoid tumor|malignant neoplasm of postcricoid area|malignant neoplasm of the postcricoid area|malignant postcricoid neoplasm											DOID:8660|SCTID:363400004|ICD10:C13.0|ICD9:148.0|UMLS:C0496769|NCIT:C9323																		owl:Class
MONDO:0030029	biolink:NamedThing	skeletal dysplasia, mild, with joint laxity and advanced bone age		mondoexuq1wtf	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE|SDJLABA|skeletal dysplasia, mild, with joint laxity and advanced bone age											OMIM:618870																		owl:Class
MONDO:0013241	biolink:NamedThing	spinocerebellar ataxia type 30	Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.	mondoexuq1wtf	spinocerebellar ataxia 30|SCA30|spinocerebellar ataxia type 30											ICD10:G11.2|MESH:C575214|SCTID:719253007|OMIM:613371|UMLS:C2936793|Orphanet:211017|DOID:0050979|GARD:0004950|UMLS:C4304845																		owl:Class
MONDO:0006968	biolink:NamedThing	shoulder impingement syndrome	Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)	mondoexuq1wtf	subacromial impingement|shoulder impingement syndrome (disorder) [ambiguous]|Impingement syndrome of shoulder region											DOID:14276|ICD9:726.2|ICD10:M75.4|SCTID:202849001|UMLS:C0376685|EFO:1001178|MedDRA:10049039|MESH:D019534																		owl:Class
MONDO:0100023	biolink:NamedThing	self-limited familial and non-familial neonatal seizures	A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress.	mondoexuq1wtf	self-limited familial neonatal-infantile epilepsy				2018-06-22 23:38:16+00:00	Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy.																								owl:Class
MONDO:0024305	biolink:NamedThing	acquired hyperprolactinemia	An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.	mondoexuq1wtf	pregnancy-related A-G syndrome|acquired hyperprolactinemia (disease)|Chiari-Frommel syndrome|hyperprolactinemia											DOID:12700|ICD10:E22.1																		owl:Class
MONDO:0003075	biolink:NamedThing	bilateral retinoblastoma	Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.	mondoexuq1wtf												UMLS:C0854914|NCIT:C8713|DOID:4650																		owl:Class
MONDO:0007457	biolink:NamedThing	diastema, dental medial		mondoexuq1wtf	diastema, dental medial											OMIM:125900|MESH:C565098																		owl:Class
MONDO:0100373	biolink:NamedThing	acute myeloid leukemia, inv(16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	mondoexuq1wtf	AML, inv(16)(p13.1q22)|AML, inv(16)(p13.1;q22.1)|AML, inv(16)(p13q22)|AML, inv(16)(p13.1;q22)|AML, inv(16)(p13;q22)|AML, inv(16)(p13.1q22.1)											NCIT:C9018																		owl:Class
MONDO:0030919	biolink:NamedThing	intellectual disability, autosomal dominant 53		mondoexuq1wtf	autosomal dominant mental retardation 53|autosomal dominant intellectual disability 53|intellectual disability, autosomal dominant 53|MRD53|mental retardation, autosomal dominant 53											EFO:0009165|OMIM:617798|DOID:0080228																		owl:Class
MONDO:0003310	biolink:NamedThing	Monckeberg arteriosclerosis	A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.	mondoexuq1wtf	Mönckeberg arteriosclerosis											DOID:5161|NCIT:C35770|UMLS:C0887866																		owl:Class
MONDO:0014057	biolink:NamedThing	maple syrup urine disease, mild variant		mondoexuq1wtf	maple syrup urine disease, mild variant|MSUDMV											OMIM:615135|UMLS:C3554575																		owl:Class
MONDO:0011016	biolink:NamedThing	type 1 diabetes mellitus 11	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.	mondoexuq1wtf	diabetes mellitus, insulin-dependent, 11|IDDM11|insulin-dependent diabetes mellitus 11											OMIM:601208|ICD10:E10|MESH:C563371|UMLS:C1832605|DOID:0110750																		owl:Class
MONDO:0043183	biolink:NamedThing	podder-tolmie syndrome		mondoexuq1wtf	meningoencephalocele, arthrogryposis and hypoplastic thumbs											MESH:C537518|GARD:0004387|UMLS:C2931519																		owl:Class
MONDO:0015773	biolink:NamedThing	fibular dimelia-diplopodia syndrome	Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.	mondoexuq1wtf	leg duplication-mirror foot syndrome											UMLS:CN200350|SCTID:720953006|ICD10:Q74.8|Orphanet:1757																		owl:Class
MONDO:0008239	biolink:NamedThing	phosphoglucomutase 4		mondoexuq1wtf	phosphoglucomutase type 4|milk PGM|Pgm4|phosphoglucomutase 4											OMIM:172110																		owl:Class
MONDO:0025351	biolink:NamedThing	multiple congenital anomalies-neurodevelopmental syndrome, x-linked		mondoexuq1wtf	Linked syndrome|MCAND											OMIM:301056																		owl:Class
MONDO:0014436	biolink:NamedThing	Bardet-Biedl syndrome 8	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.	mondoexuq1wtf	TTC8 Bardet-Biedl syndrome|BBS8|Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome type 8|Bardet-Biedl syndrome 8											DOID:0110130|ICD10:Q87.89|GARD:0010207|MESH:C565917|UMLS:C1859566|OMIM:615985														https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8				owl:Class
MONDO:0008355	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 1		mondoexuq1wtf	IHPS1|pyloric stenosis, infantile hypertrophic, 1|pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic											UMLS:C1867403|OMIM:179010																		owl:Class
MONDO:0017239	biolink:NamedThing	familial progressive hyper- and hypopigmentation	Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.	mondoexuq1wtf	FPHH											ICD10:L81.8|Orphanet:280628																		owl:Class
MONDO:0010192	biolink:NamedThing	Waardenburg syndrome type 4A	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.	mondoexuq1wtf	WS4A|Shah-Waardenburg syndrome|Waardenburg syndrome type IVA|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg syndrome with Hirschsprung disease, type 4A|Ws4|EDNRB Waardenburg syndrome|Waardenburg-Shah syndrome|Waardenburg syndrome caused by mutation in EDNRB|Waardenburg syndrome, type 4A											OMIM:277580|DOID:0110953																		owl:Class
MONDO:0032582	biolink:NamedThing	nephrotic syndrome, type 19		mondoexuq1wtf	NPHS19|NEPHROTIC SYNDROME, TYPE 19											OMIM:618178|DOID:0080394																		owl:Class
MONDO:0023575	biolink:NamedThing	Krauss Herman Holmes syndrome		mondoexuq1wtf	telecanthus, hypertelorism, strabismus, and pes cavus syndrome											MESH:C537618|UMLS:C2931549|GARD:0003143														https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome				owl:Class
MONDO:0001088	biolink:NamedThing	acute inferoposterior infarction		mondoexuq1wtf	acute inferoposterior myocardial infarction|acute inferoposterior infarction|acute myocardial infarction of inferoposterior wall					Editor note: TODO: positional superclass						DOID:10648|SCTID:76593002|ICD9:410.30|ICD9:410.31|ICD9:410.32|UMLS:C0340304																		owl:Class
MONDO:0020349	biolink:NamedThing	acute motor axonal neuropathy	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS).	mondoexuq1wtf	acute pure motor Guillain-Barré syndrome|acute pure motor GBS|acute pure motor Guillain-Barre syndrome|AMAN											NCIT:C116929|UMLS:CN207196|UMLS:C3890941|ICD10:G61.0|SCTID:715770009|Orphanet:98918																		owl:Class
MONDO:0007594	biolink:NamedThing	factor 5 excess with spontaneous thrombosis		mondoexuq1wtf	Proaccelerin Excess|thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis											UMLS:C1851378|OMIM:134400|MESH:C565026																		owl:Class
MONDO:0100374	biolink:NamedThing	acute myeloid leukemia, t(16;16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	mondoexuq1wtf	AML, t(16;16)(p13q22)|AML, t(16;16)(p13.1q22)|AML, t(16;16)(p13.1;q22)|AML, t(16;16)(p13.1q22.1)|AML, t(16;16)(p13;q22)|AML, t(16;16)(p13.1;q22.1)											NCIT:C9019																		owl:Class
MONDO:0013796	biolink:NamedThing	chromosome 17q12 duplication syndrome	17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.	mondoexuq1wtf	chromosome 17q12 duplication syndrome|17q12 microduplication syndrome|trisomy 17q12|17q12 microduplication|17q12 duplication|dup(17)(q12)|recurrent duplication of 17q12											SCTID:764435003|GARD:0013296|Orphanet:261272|UMLS:C3281137|DOID:0060433|OMIM:614526|ICD10:Q92.3																		owl:Class
MONDO:0010008	biolink:NamedThing	sarcosinemia	Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.	mondoexuq1wtf	hypersarcosinemia|sarcosine dehydrogenase complex deficiency|SARDH deficiency|SARD deficiency|SARCOS|sarcosinemia											ICD10:E72.5|UMLS:C0268563|MESH:C537236|GARD:0000158|MedDRA:10059299|ICD9:270.8|Orphanet:3129|SCTID:64852002|OMIM:268900														https://rarediseases.info.nih.gov/diseases/158/sarcosinemia				owl:Class
MONDO:0020447	biolink:NamedThing	coronary sinus atresia		mondoexuq1wtf												Orphanet:99118|ICD10:Q21.1																		owl:Class
MONDO:0009354	biolink:NamedThing	methylcobalamin deficiency type cblE	An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.	mondoexuq1wtf	methylmalonic aciduria and homocystinuria type cblE|homocystinuria due to defect in methylation Cbl e|vitamin B12-responsive homocystinuria, cblE type|methylcobalamin deficiency, cblE type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|HMAE|functional methionine synthase deficiency type cblE|homocystinuria-megaloblastic anemia, cblE complementation type											MESH:C565510|NCIT:C142173|EFO:0005568|OMIM:236270|Orphanet:2169|GARD:0002732|DOID:0050732|UMLS:C1856057|ICD10:E72.1																		owl:Class
MONDO:0012697	biolink:NamedThing	otosclerosis 7		mondoexuq1wtf	otosclerosis 7|OTSC7											OMIM:611572|MESH:C566913|UMLS:C1969044																		owl:Class
MONDO:0012728	biolink:NamedThing	Brugada syndrome 2	Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.	mondoexuq1wtf	BRGDA2|Brugada syndrome type 2|Brugada syndrome 2|GPD1L Brugada syndrome|Brugada syndrome caused by mutation in GPD1L											DOID:0110219|MESH:C567087|OMIM:611777|UMLS:C2673193|ICD10:I49.8																		owl:Class
MONDO:0019319	biolink:NamedThing	verrucous nevus	A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.	mondoexuq1wtf	verrucous Epidermal Nevus											SCTID:398723007|ICD10:Q82.5|NCIT:C4674|Orphanet:79467|UMLS:C0362030																		owl:Class
MONDO:0018816	biolink:NamedThing	isolated neonatal sclerosing cholangitis	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.	mondoexuq1wtf	NSC|sclerosing cholangitis, neonatal											OMIM:617394|UMLS:C4479344|Orphanet:480556																		owl:Class
MONDO:0019886	biolink:NamedThing	distal trisomy 13q	Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	mondoexuq1wtf	telomeric duplication 13q|trisomy 13qter|distal duplication 13q|distal trisomy type 13q											ICD10:Q92.3|Orphanet:96105|SCTID:764454003																		owl:Class
MONDO:0019540	biolink:NamedThing	diffuse alveolar hemorrhage		mondoexuq1wtf	diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease)		diffuse alveolar hemorrhage (disease)									Orphanet:90060|UMLS:CN206369|ICD10:J98.4|HP:0025420																		owl:Class
MONDO:0009448	biolink:NamedThing	iminoglycinuria	Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	iminoglycinuria											SCTID:84121007|MESH:C536285|UMLS:C0268654|ICD9:270.8|ICD10:E72.0|Orphanet:42062|GARD:0008424|OMIM:242600														https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria				owl:Class
MONDO:0016840	biolink:NamedThing	trisomy 17p	Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	mondoexuq1wtf	chromosome 17p duplication|dup(17p)|17p duplication|Duplication 17p|trisomy type 17p|partial trisomy 17p|17p trisomy											ICD10:Q92.2|Orphanet:261290|SCTID:717049005|MESH:C538048|GARD:0005318|UMLS:C0795865																		owl:Class
MONDO:0011228	biolink:NamedThing	creases, infra-auricular cutaneous, with tall stature and advanced bone age		mondoexuq1wtf	creases, infra-auricular cutaneous, with tall stature and advanced bone age											MESH:C566543|OMIM:602472|UMLS:C1865360																		owl:Class
MONDO:0004296	biolink:NamedThing	cervical lymphoepithelioma-like carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.	mondoexuq1wtf	cervical lymphoepithelioma-like carcinoma											UMLS:C1516418|DOID:7598|NCIT:C40193																		owl:Class
MONDO:0016209	biolink:NamedThing	benign familial nocturnal alternating hemiplegia of childhood	Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.	mondoexuq1wtf	benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood											UMLS:CN226880|Orphanet:209973																		owl:Class
MONDO:0015573	biolink:NamedThing	subacute cutaneous lupus erythematosus	Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.	mondoexuq1wtf												MedDRA:10057903|Orphanet:163525|SCTID:239891002|UMLS:C0024140|ICD10:L93.1|NCIT:C117111																		owl:Class
MONDO:0011296	biolink:NamedThing	Meckel syndrome, type 2	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	mondoexuq1wtf	Meckel syndrome caused by mutation in TMEM216|MKS2|Meckel syndrome type 2|TMEM216 Meckel syndrome|Meckel syndrome, type 2|Meckel syndrome 2|Meckel-Gruber syndrome, type 2											OMIM:603194|UMLS:C1864148|MESH:C536131|DOID:0070116|ICD10:Q61.9|GARD:0008743														https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2				owl:Class
MONDO:0001998	biolink:NamedThing	Foster-Kennedy syndrome	Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.	mondoexuq1wtf												DOID:14555|UMLS:C0152112|ICD9:377.04|EFO:1001330|ICD10:H47.14|SCTID:87764000																		owl:Class
MONDO:0014197	biolink:NamedThing	combined immunodeficiency due to MALT1 deficiency	Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.	mondoexuq1wtf	immunodeficiency 12|immunodeficiency type 12|IMD12											ICD10:D81.8|Orphanet:397964|UMLS:C3809583|OMIM:615468																		owl:Class
MONDO:0016976	biolink:NamedThing	well-differentiated thymic neuroendocrine carcinoma		mondoexuq1wtf												Orphanet:263331|UMLS:CN202278|ICD10:C37|SCTID:717922007																		owl:Class
MONDO:0002281	biolink:NamedThing	macrocytic anemia	Anemia that is characterized by increased red blood cell volume.	mondoexuq1wtf	macrocytic anemia (disease)|macrocytic anaemia of unspecified cause|macrocytic anemia|D22S676|macrocytic anaemia|macrocytic Anemia|D22S750|anemia macrocytic		macrocytic anemia (disease)									SCTID:83414005|NCIT:C34381|HP:0001972|UMLS:C0002886|MESH:D000748|DOID:2361																		owl:Class
MONDO:0016745	biolink:NamedThing	diffuse leptomeningeal melanocytosis	Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.	mondoexuq1wtf	leptomeningeal melanomatosis|DLM											Orphanet:252031																		owl:Class
MONDO:0010838	biolink:NamedThing	gonadal agenesis	A congenital disorder characterized by the complete absence of gonadal tissue.	mondoexuq1wtf	gonadal agenesis					See https://github.com/obophenotype/human-phenotype-ontology/issues/3571						OMIM:600171|NCIT:C27228																		owl:Class
MONDO:0019967	biolink:NamedThing	Kienbock disease	Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.	mondoexuq1wtf	aseptic necrosis of the lunate bone|Kienbock's disease|bilateral Kienbock's disease|Osteochondrosis of the lunate bone|Lunatomalacia|osteochondritis of the lunate bone											Orphanet:97332|ICD10:M92.2|GARD:0009690|ICD10:M93.2|MedDRA:10064242																		owl:Class
MONDO:0003987	biolink:NamedThing	lung lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.	mondoexuq1wtf	lymphoma of lung|primary lung lymphoma|pulmonary lymphoma|lung lymphoma|lymphoma of the lung											UMLS:C1704383|DOID:6760|NCIT:C4794																		owl:Class
MONDO:0034846	biolink:NamedThing	primary desmosis coli	A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	mondoexuq1wtf												Orphanet:565641|ICD10:K59.9																		owl:Class
MONDO:0002069	biolink:NamedThing	female breast axillary tail cancer	A cancer that involves the UBERON:0035289.	mondoexuq1wtf	malignant neoplasm of axillary tail of breast|malignant axillary tail of breast neoplasm|axillary tail of breast cancer|cancer of axillary tail of breast|malignant neoplasm of axillary tail of female breast											ICD9:174.6|ICD10:C50.6|SCTID:188156001|ICD10:C50.61|UMLS:C0153554|DOID:1650																		owl:Class
MONDO:0007580	biolink:NamedThing	esterase ES-2, regulator for		mondoexuq1wtf	esterase ES-2, regulator for					Editor note: consider obsoleting						OMIM:133300																		owl:Class
MONDO:0025095	biolink:NamedThing	malaria, avian	Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.	mondoexuq1wtf	Avian Malarias|Avian malaria|Malarias, Avian											UMLS:C0024533|MESH:D008289																		owl:Class
MONDO:0009386	biolink:NamedThing	hyperlexia		mondoexuq1wtf	compulsive reading|hyperlexia|precocious reading											MESH:C565500|OMIM:238350																		owl:Class
MONDO:0032598	biolink:NamedThing	developmental and epileptic encephalopathy, 68		mondoexuq1wtf	DEE68|EIEE68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68|epileptic encephalopathy, early infantile, 68											OMIM:618201																		owl:Class
MONDO:0060671	biolink:NamedThing	epilepsy, juvenile myoclonic, susceptibility to, 10		mondoexuq1wtf	epilepsy, juvenile myoclonic, susceptibility to, 10|EJM10											OMIM:617924|DOID:0111325																		owl:Class
MONDO:0032876	biolink:NamedThing	neurodevelopmental disorder with absent language and variable seizures		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES|Ito-Raymond Syndrome|NEDALVS											OMIM:618707																		owl:Class
MONDO:0006986	biolink:NamedThing	substernal goiter	An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.	mondoexuq1wtf	retrosternal thyroid goiter											UMLS:C0018024|DOID:13200|EFO:1001198|MESH:D006045|SCTID:66392007																		owl:Class
MONDO:0004815	biolink:NamedThing	osteosclerotic plasma cell myeloma	A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.	mondoexuq1wtf	osteosclerotic multiple myeloma|osteosclerotic plasma cell myeloma|osteosclerotic myeloma											NCIT:C7765|DOID:9541|SCTID:425657001																		owl:Class
MONDO:0006579	biolink:NamedThing	melanoacanthoma	A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.	mondoexuq1wtf												SCTID:394727000|EFO:1000733|Wikipedia:Melanocanthoma|NCIT:C27548|UMLS:C1321683|DOID:11684																		owl:Class
MONDO:0044721	biolink:NamedThing	severe combined immunodeficiency due to LAT deficiency		mondoexuq1wtf	SCID due to LAT deficiency|immunodeficiency 52|IMD52											UMLS:C4479588|OMIM:617514|Orphanet:504523																		owl:Class
MONDO:0032770	biolink:NamedThing	intellectual developmental disorder with severe speech and ambulation defects		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS|IDDSSAD											OMIM:618470																		owl:Class
MONDO:0007453	biolink:NamedThing	maturity-onset diabetes of the young type 2	Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.	mondoexuq1wtf	maturity-onset diabetes of the young (disease) caused by mutation in GCK|type 2 maturity-onset diabetes of the young|glucokinase-associated diabetes mellitus|maturity-onset diabetes of the young, type 2|maturity onset diabetes of the Young, type 2|diabetes mellitus MODY type 2|MODY2|GCK-associated diabetes mellitus|MODY, type 2|MODY, glucokinase-related|MODY 2 monogenic diabetes type 2|MODY type 2|MODY glucokinase-related|GCK maturity-onset diabetes of the young (disease)											DOID:0111100|OMIM:125851|GARD:0010657|SCTID:237604008|NCIT:C129741														https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2				owl:Class
MONDO:0011120	biolink:NamedThing	neural tube defects, folate-sensitive		mondoexuq1wtf	NTD, folate-sensitive|spina bifida, folate-sensitive|NTDFS|neural tube defects, folate-sensitive											UMLS:C1866558|OMIM:601634																		owl:Class
MONDO:0007130	biolink:NamedThing	congenital total pulmonary venous return anomaly	Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.	mondoexuq1wtf	TAPVR1|total anomalous pulmonary venous return|pulmonary venolobar syndrome|TAPVR|total anomalous pulmonary VENOUS return 1|scimitar syndrome|anomalous pulmonary Venous return|scimitar anomaly											NCIT:C98585|COHD:432432|OMIM:106700|ICD10:Q26.2|SCTID:111323005|EFO:1001167|ICD10:Q26.8|ICD9:747.41|DOID:4297|Orphanet:99125																		owl:Class
MONDO:0043994	biolink:NamedThing	acute cholecystitis	Acute inflammation of the gallbladder.	mondoexuq1wtf	acute cholecystitis											NCIT:C35152|MESH:D041881|SCTID:65275009																		owl:Class
MONDO:0030947	biolink:NamedThing	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities		mondoexuq1wtf	CONRIBA											OMIM:619173																		owl:Class
MONDO:0000849	biolink:NamedThing	fibrogenesis imperfecta ossium	A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.	mondoexuq1wtf	baker's disease											DOID:0080040																		owl:Class
MONDO:0017321	biolink:NamedThing	pili torti-onychodysplasia syndrome	Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.	mondoexuq1wtf												Orphanet:2890|UMLS:C2931483																		owl:Class
MONDO:0010841	biolink:NamedThing	Waardenburg syndrome type 2B		mondoexuq1wtf	Waardenburg syndrome type IIB|WS2B|Waardenburg syndrome, type 2B											MESH:C536465|DOID:0110947|GARD:0005522|UMLS:C1838447|OMIM:600193														https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b				owl:Class
MONDO:0001600	biolink:NamedThing	mucocele of salivary gland	A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.	mondoexuq1wtf	ranula|salivary gland mucocele|salivary cyst|mucous retention cyst of salivary gland											COHD:24977|SCTID:69825009|MESH:D011900|DOID:12904|ICD10:K11.6|ICD9:527.6|UMLS:C0026686|UMLS:C2242813																		owl:Class
MONDO:0044299	biolink:NamedThing	myasthenic syndrome, congenital, 22		mondoexuq1wtf	Prepl deficiency|myasthenic syndrome, congenital, 22|CMS22											DOID:0080587|UMLS:C4479088|OMIM:616224																		owl:Class
MONDO:0017701	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form		mondoexuq1wtf	glycogen storage disease type IV, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form|GSDIV, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|GSD type 4, adult neuromuscular form|glycogenosis type 4, adult neuromuscular form|GBE deficiency, adult neuromuscular form											Orphanet:308712|ICD10:E74.0|UMLS:CN203601																		owl:Class
MONDO:0005063	biolink:NamedThing	medullary breast carcinoma	An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.	mondoexuq1wtf	infiltrating medullary carcinoma of breast|medullary breast carcinoma|infiltrating medullary carcinoma of the breast|medullary breast cancer|breast medullary carcinoma|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of breast|invasive medullary breast carcinoma|medullary carcinoma of breast|medullary carcinoma of the breast|invasive medullary carcinoma of the breast											EFO:0000580|DOID:5605|NCIT:C9119|ICDO:8512/3|UMLS:C0860580																		owl:Class
MONDO:0013322	biolink:NamedThing	epilepsy, familial adult myoclonic, 3		mondoexuq1wtf	epilepsy, familial ADULT myoclonic, 3|FAME3|cortical myoclonic tremor with epilepsy, familial, 3											UMLS:C3150860|DOID:0111695|MESH:C567098|OMIM:613608																		owl:Class
MONDO:0017894	biolink:NamedThing	acute myeloid leukemia with CEBPA somatic mutations	Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	mondoexuq1wtf	acute myeloid Leukemia with mutated CEBPA|acute myeloid Leukemia with non-germline mutated CEBPA|AML with CEBPA somatic mutations|AML with mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA											ICD10:C92.0|UMLS:C2826178|SCTID:764855007|Orphanet:319480|NCIT:C82433																		owl:Class
MONDO:0006386	biolink:NamedThing	primary peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.	mondoexuq1wtf	primary peritoneal serous adenocarcinoma											UMLS:C1514429|NCIT:C40023|EFO:1000494																		owl:Class
MONDO:0011063	biolink:NamedThing	hidrotic ectodermal dysplasia, Christianson-Fourie type	Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.	mondoexuq1wtf	ectodermal dysplasia, hidrotic, Christianson-Fourie type|Christianson-Fourie syndrome											OMIM:601375|Orphanet:1808|GARD:0002682|UMLS:C1832411|MESH:C536180|ICD10:Q82.8														https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type				owl:Class
MONDO:0022598	biolink:NamedThing	brachydactyly absence of distal phalanges		mondoexuq1wtf												GARD:0000961														https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges				owl:Class
MONDO:0010391	biolink:NamedThing	angioma serpiginosum, X-linked		mondoexuq1wtf	angioma serpiginosum, X-linked											GARD:0010188|OMIM:300652																		owl:Class
MONDO:0024227	biolink:NamedThing	miliaria pustulosa	A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.	mondoexuq1wtf												DOID:0070319|SCTID:26988005																		owl:Class
MONDO:0009895	biolink:NamedThing	postaxial polydactyly-dental and vertebral anomalies syndrome	Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	mondoexuq1wtf	polydactyly, postaxial, with dental and vertebral anomalies											ICD10:Q87.2|OMIM:263540|Orphanet:2916|UMLS:C1849732|MESH:C564880																		owl:Class
MONDO:0009708	biolink:NamedThing	myopathy, myosin storage, autosomal recessive		mondoexuq1wtf	MSMB|myopathy, myosin storage, autosomal recessive|myopathy, hyaline body, autosomal recessive											MESH:C564970|OMIM:255160|UMLS:C1850709|DOID:0111268																		owl:Class
MONDO:0012342	biolink:NamedThing	7q11.23 microduplication syndrome	7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	mondoexuq1wtf	trisomy 7q11.23|dup(7)(q11.23)|Wbs Duplication syndrome|Wbs triplication syndrome|chromosome 7Q11.23 triplication syndrome|chromosome 7Q11.23 Duplication syndrome|Williams-Beuren region DUPLICATION syndrome|7q11.23 duplication syndrome|Somerville-Van Der Aa syndrome											GARD:0012076|UMLS:C4512054|Orphanet:96121|OMIM:609757|MESH:C565723|SCTID:726707004|UMLS:C1857844|ICD10:Q92.3																		owl:Class
MONDO:0007260	biolink:NamedThing	Car factor deficiency		mondoexuq1wtf	Car factor deficiency											UMLS:C1861898|OMIM:114650|MESH:C566176																		owl:Class
MONDO:0043179	biolink:NamedThing	piepkorn karp hickok syndrome		mondoexuq1wtf	short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect											MESH:C535774|GARD:0004345|UMLS:C2931016																		owl:Class
MONDO:0012915	biolink:NamedThing	chromosome 1q21.1 duplication syndrome	Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.	mondoexuq1wtf	1q21.1 microduplication syndrome|chromosome 1q21.1 duplication syndrome|trisomy 1q21.1|dup(1)(q21.1)											Orphanet:250994|GARD:0010591|ICD10:Q92.3|MESH:C567290|UMLS:C2675891|DOID:0060435|OMIM:612475														https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome				owl:Class
MONDO:0100394	biolink:NamedThing	acute myeloid leukemia, t(1;22)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)	mondoexuq1wtf	AML, t(1;22)																													owl:Class
MONDO:0012068	biolink:NamedThing	brachial palsy, familial congenital		mondoexuq1wtf	brachial palsy, familial congenital											UMLS:C1837810|MESH:C563901|OMIM:608585																		owl:Class
MONDO:0030898	biolink:NamedThing	immunodeficiency 76		mondoexuq1wtf	IMD76|immunodeficiency 76											OMIM:619164																		owl:Class
MONDO:0017547	biolink:NamedThing	congenital vertical talus, bilateral		mondoexuq1wtf												ICD10:Q66.8|Orphanet:295203																		owl:Class
MONDO:0022321	biolink:NamedThing	2-methylacetoacetyl CoA thiolase deficiency		mondoexuq1wtf						Editor note: todo split https://en.wikipedia.org/wiki/2-methylacetoacetyl-CoA_thiolase						GARD:0008382|UMLS:C2930874|MESH:C535307														https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency				owl:Class
MONDO:0017600	biolink:NamedThing	hairy cell leukemia variant	Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).	mondoexuq1wtf	leukemic reticuloendotheliosis variant|HCL-v|HCL-V|hairy cell leukemia variant|prolymphocytic variant of HCL|hairy cell leukaemia variant|prolymphocytic variant of hairy cell leukemia											NCIT:C7401|UMLS:C0349633|ICDO:9591/3|MedDRA:10019054|Orphanet:300878|SCTID:277568007|DOID:713|ICD10:C91.4																		owl:Class
MONDO:0009758	biolink:NamedThing	congenital stationary night blindness 1B	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.	mondoexuq1wtf	congenital stationary night blindness type 1B|congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|GRM6 congenital stationary night blindness|night blindness, congenital stationary, type 1B|CSNB1B|autosomal recessive complete congenital stationary night blindness|night blindness, congenital stationary, complete, autosomal recessive|CSNB, complete, autosomal recessive											UMLS:C1850362|OMIM:257270|DOID:0110865																		owl:Class
MONDO:0018009	biolink:NamedThing	non-hypoproteinemic hypertrophic gastropathy	Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.	mondoexuq1wtf	hypertrophic gastropathy without hypoproteinemia											ICD10:K29.6|Orphanet:329883																		owl:Class
MONDO:0010075	biolink:NamedThing	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.	mondoexuq1wtf	B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|SEMDJL|spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|SEMDJL1											DOID:0112198|OMIM:271640																		owl:Class
MONDO:0015345	biolink:NamedThing	perioral myoclonia with absences	Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	mondoexuq1wtf	POMA											SCTID:766815007|Orphanet:139426																		owl:Class
MONDO:0018450	biolink:NamedThing	spinal muscular atrophy with respiratory distress type 2	Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	mondoexuq1wtf	severe infantile axonal neuropathy with respiratory failure type 2|X-linked spinal muscular atrophy with respiratory distress|diaphragmatic spinal muscular atrophy type 2|SMARD2											ICD10:G12.2|UMLS:CN226195|Orphanet:404521																		owl:Class
MONDO:0020412	biolink:NamedThing	congenital patent ductus arteriosus aneurysm	Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.	mondoexuq1wtf												Orphanet:99072|SCTID:763316006|ICD10:Q25.8																		owl:Class
MONDO:0004103	biolink:NamedThing	tall cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.	mondoexuq1wtf	tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma											NCIT:C35558|DOID:7089|UMLS:C1336695																		owl:Class
MONDO:0002218	biolink:NamedThing	temporal lobe cancer	A cancer that involves the temporal lobe.	mondoexuq1wtf	temporal lobe neoplasm|malignant neoplasm of temporal lobe|malignant temporal lobe neoplasm|cancer of temporal lobe|temporal lobe cancer											ICD9:191.2|COHD:4180907|UMLS:C0153636|ICD10:C71.2|SCTID:363468009|DOID:2135																		owl:Class
MONDO:0032781	biolink:NamedThing	congenital hypotonia, epilepsy, developmental delay, and digital anomalies		mondoexuq1wtf	CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES|CHEDDA											OMIM:618494																		owl:Class
MONDO:0005673	biolink:NamedThing	blind loop syndrome	A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.	mondoexuq1wtf	stasis (blind loop) syndrome|stasis syndrome|blind loop syndrome|bacterial overgrowth syndrome											EFO:0007175|MESH:D001765|NCIT:C34431|ICD9:579.2|COHD:196732|DOID:10606|SCTID:66379009|ICD10:K90.2|UMLS:C0005750																		owl:Class
MONDO:0013493	biolink:NamedThing	acetyl-coa carboxylase deficiency		mondoexuq1wtf	ACETYL-CoA carboxylase deficiency|ACACAD|Acc1 deficiency|Acaca deficiency											UMLS:C0268603|OMIM:613933|MESH:C562678																		owl:Class
MONDO:0022337	biolink:NamedThing	AIDS dysmorphic syndrome		mondoexuq1wtf												GARD:0005765														https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome				owl:Class
MONDO:0005102	biolink:NamedThing	undifferentiated (embryonal) sarcoma	An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.	mondoexuq1wtf	undifferentiated sarcoma|sarcoma, undifferentiated, malignant|embryonal sarcoma|undifferentiated (embryonal) sarcoma|UES|embryonal sarcoma, undifferentiated|embryonal sarcoma (undifferentiated sarcoma)											UMLS:C0855073|GARD:0008650|ICDO:8805/3|ICDO:8991/3|NCIT:C27096|EFO:0000730																		owl:Class
MONDO:0100209	biolink:NamedThing	X inactivation, familial skewed		mondoexuq1wtf						This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series).		http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0004413	biolink:NamedThing	cervical non-keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.	mondoexuq1wtf												DOID:7961|NCIT:C40188|UMLS:C1518366																		owl:Class
MONDO:0020472	biolink:NamedThing	Turner syndrome due to structural X chromosome anomalies		mondoexuq1wtf												ICD10:Q96.1|Orphanet:99413|UMLS:CN207336|ICD10:Q96.2																		owl:Class
MONDO:0044629	biolink:NamedThing	congenital amyoplasia		mondoexuq1wtf	amyoplasia congenita											Orphanet:488586																		owl:Class
MONDO:0005414	biolink:NamedThing	treatment-refractory schizophrenia	Schizophrenia which does not respond to commonly used treatments.	mondoexuq1wtf	refractory schizophrenia|TRS|treatment-refractory schizophrenia											EFO:0004609																		owl:Class
MONDO:0041526	biolink:NamedThing	pregnancy disorder with abortive outcome		mondoexuq1wtf	pregnancy with abortive outcome					Editor note: consider obsoleting						ICD10:O00.O08|SCTID:363681007																		owl:Class
MONDO:0010921	biolink:NamedThing	nasal dermoid cyst	A dermoid cyst that involves the nose.	mondoexuq1wtf	nasal dermoid sinus cyst|dermoid cysts, familial frontonasal											ICD10:Q18.8|MESH:C563455|UMLS:C1833473|Orphanet:141103|OMIM:600679																		owl:Class
MONDO:0007977	biolink:NamedThing	mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	mondoexuq1wtf	mesomelic dysplasia Thai type|MMDK|MDK|mesomelic dysplasia, Thai type|Mdk|mesomelic dysplasia Kantaputra type|mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|Kantaputra mesomelic dysplasia|mesomelic dysplasia, Kantaputra type											MESH:C535547|ICD10:Q78.8|OMIM:156232|GARD:0003074|Orphanet:1836|SCTID:719397009														https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type				owl:Class
MONDO:0012272	biolink:NamedThing	intellectual disability, keratoconus, febrile seizures, and sinoatrial block		mondoexuq1wtf	mental retardation, keratoconus, febrile seizures, and sinoatrial block|intellectual disability, keratoconus, febrile seizures, and sinoatrial block											UMLS:C1836202|GARD:0010064|MESH:C537452|OMIM:609438														https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block				owl:Class
MONDO:0005398	biolink:NamedThing	upper aerodigestive tract neoplasm	Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)	mondoexuq1wtf												ICD9:239.89|SCTID:439361000|EFO:0004284																		owl:Class
MONDO:0019630	biolink:NamedThing	congenital ectropion uveae	Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.	mondoexuq1wtf												ICD10:Q10.1|Orphanet:91491																		owl:Class
MONDO:0010522	biolink:NamedThing	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.	mondoexuq1wtf	enamel hypoplasia, X-linked|amelogenesis imperfecta 3 hypoplastic type|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|amelogenesis imperfecta type IE X-linked 2|AIH3|X-linked enamel hypoplasia|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|amelogenesis imperfecta 3, hypoplastic type, formerly|amelogenesis imperfecta 3, hypoplastic type (formerly)|amelogenesis imperfecta 3, hypoplastic type|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|AIH3 (formerly)											ICD10:K00.5|OMIM:301201|DOID:0110059|GARD:0009944|UMLS:C1845051																		owl:Class
MONDO:0018463	biolink:NamedThing	mild phosphoribosylpyrophosphate synthetase superactivity	Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.	mondoexuq1wtf	mild PRPS1 superactivity|mild PRPP synthetase superactivity											ICD10:E79.8|UMLS:CN237443|Orphanet:411536																		owl:Class
MONDO:0032714	biolink:NamedThing	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome		mondoexuq1wtf	FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME|FHEIG											OMIM:618381																		owl:Class
MONDO:0015166	biolink:NamedThing	acute myeloid leukemia with t(8;21)(q22;q22) translocation		mondoexuq1wtf	AML with t(8;21)(q22;q22) translocation											Orphanet:102724|ICD10:C92.0																		owl:Class
MONDO:0054752	biolink:NamedThing	multiple synostoses syndrome 4		mondoexuq1wtf	SYNS4|multiple synostoses syndrome 4											UMLS:CN842246|OMIM:617898																		owl:Class
MONDO:0003003	biolink:NamedThing	cervical alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the cervix.	mondoexuq1wtf												NCIT:C40225|DOID:4442|UMLS:C1516408																		owl:Class
MONDO:0007997	biolink:NamedThing	microspherophakia with hernia		mondoexuq1wtf	microspherophakia with hernia											MESH:C537468|UMLS:C1834881|GARD:0009462|OMIM:157150														https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia				owl:Class
MONDO:0033614	biolink:NamedThing	spastic paraplegia 83, autosomal recessive		mondoexuq1wtf	SPG83											OMIM:619027																		owl:Class
MONDO:0016692	biolink:NamedThing	pilomyxoid astrocytoma	An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.	mondoexuq1wtf	PMA											NCIT:C40315|ICD10:C71.9|ONCOTREE:PMA|UMLS:C1519086|Orphanet:251615|DOID:4845|ICDO:9425/3																		owl:Class
MONDO:0017835	biolink:NamedThing	lymphocytic hypereosinophilic syndrome		mondoexuq1wtf	lymphoid HES|HES-L|lymphocytic variant HES											Orphanet:314970|UMLS:CN203810|ICD10:D47.5																		owl:Class
MONDO:0032697	biolink:NamedThing	neurodevelopmental disorder and language delay with or without structural brain abnormalities		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES|NEDLBA											OMIM:618354																		owl:Class
MONDO:0008932	biolink:NamedThing	premature centromere division		mondoexuq1wtf	premature centromere division|X-chromosome centromere peculiarity|PCD											UMLS:C1859308|OMIM:212790																		owl:Class
MONDO:0005052	biolink:NamedThing	irritable bowel syndrome	Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between  the  two).	mondoexuq1wtf	spastic colon|IBS|mucus colitis|irritable bowel syndrome|IBD|psychogenic IBS|irritable colon					Editor note: consider merging with MONDO:0005265						ICD10:K58|ICD10:K58.9|COHD:75576|DOID:9778|EFO:0000555|SCTID:10743008|UMLS:C0022104|MESH:D043183|ICD9:564.1|NCIT:C82343																		owl:Class
MONDO:0021723	biolink:NamedThing	vaginismus	Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.	mondoexuq1wtf	vaginismus|myalgia of pelvic floor											UMLS:C2004487|MESH:D052065|ICD10:N94.2																		owl:Class
MONDO:0032577	biolink:NamedThing	retinitis pigmentosa 83		mondoexuq1wtf	RP83|RETINITIS PIGMENTOSA 83											OMIM:618173																		owl:Class
MONDO:0019511	biolink:NamedThing	autosomal dominant medullary cystic kidney disease with hyperuricemia	An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout.	mondoexuq1wtf	autosomal dominant medullary cystic kidney disease type 2|UMOD-related autosomal dominant tubulointerstitial kidney disease|ADMCKD2|ADTKD-UMOD|UMOD-related ADTKD|autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD											ICD10:Q61.5|GARD:0010679|Orphanet:88950|UMLS:CN206322																		owl:Class
MONDO:0032688	biolink:NamedThing	polymicrogyria with or without vascular-type ehlers-danlos syndrome		mondoexuq1wtf	PMGEDSV|POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME											OMIM:618343																		owl:Class
MONDO:0019397	biolink:NamedThing	unknown leukodystrophy		mondoexuq1wtf												Orphanet:84096|ICD10:E75.2																		owl:Class
MONDO:0020974	biolink:NamedThing	laryngeal granuloma	A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.	mondoexuq1wtf	Granuloma, Laryngeal|Granuloma of Larynx|laryngeal granuloma|Granulomas, Laryngeal|Laryngeal Granuloma|Laryngeal Granulomas|Laryngeal granuloma|Larynx Granuloma|Larynx Granulomas											ICD9:478.79|SCTID:72211003|MESH:D006102|UMLS:C0018196																		owl:Class
MONDO:0013535	biolink:NamedThing	hydroxyacyl glutathione hydrolase deficiency		mondoexuq1wtf	glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency											OMIM:614033|UMLS:C3279657|MESH:C564215																		owl:Class
MONDO:0018216	biolink:NamedThing	17q21.31 microdeletion syndrome		mondoexuq1wtf	monosomy 17q21.31|Del(17)(q21.31)											Orphanet:363958|UMLS:CN204740|ICD10:Q93.5																		owl:Class
MONDO:0003430	biolink:NamedThing	prolactin producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.	mondoexuq1wtf	prolactin secreting tumor of pituitary gland|malignant prolactin producing neoplasm of pituitary gland|prolactin secreting neoplasm of the pituitary|prolactin-producing pituitary gland neoplasm|prolactin producing neoplasm of the pituitary|prolactin producing neoplasm of pituitary|prolactin secreting pituitary gland neoplasm|prolactin secreting neoplasm of the pituitary gland|prolactin secreting pituitary tumor|prolactin secreting tumor of the pituitary gland|prolactin secreting neoplasm of pituitary|prolactin producing pituitary neoplasm|prolactin secreting tumor of the pituitary|malignant prolactinoma|prolactin producing neoplasm of the pituitary gland|prolactin producing neoplasm of pituitary gland|PRL producing pituitary gland neoplasm|prolactin secreting neoplasm of pituitary gland|prolactin producing pituitary tumor|prolactin producing tumor of the pituitary|prolactin producing pituitary tumour|prolactin producing pituitary gland tumor|prolactin secreting pituitary neoplasm|prolactin producing tumor of the pituitary gland|prolactin secreting pituitary gland tumor|prolactin secreting tumor of pituitary|prolactin-producing pituitary gland tumor|prolactin producing tumor of pituitary gland|prolactin producing tumor of pituitary|prolactin producing pituitary gland neoplasm											UMLS:C0278863|DOID:5396|NCIT:C7910																		owl:Class
MONDO:0008888	biolink:NamedThing	Williams-Campbell syndrome		mondoexuq1wtf	Williams-Campbell syndrome|tracheobronchomalacia|BRONCHOMALACIA											OMIM:211450|ICD10:Q33.4|SCTID:54203008|ICD9:748.3|GARD:0007791|Orphanet:411501																		owl:Class
MONDO:0021340	biolink:NamedThing	intertrigo	A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.	mondoexuq1wtf	Eczema intertrigo|Erythema intertrigo|Intertrigo											SCTID:58759008|UMLS:C0021807|MESH:D007402|ICD9:695.89																		owl:Class
MONDO:0017498	biolink:NamedThing	congenital absence of both forearm and hand, unilateral	Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.	mondoexuq1wtf	radio-ulnar terminal transverse meromelia, unilateral											Orphanet:295093|ICD10:Q71.2																		owl:Class
MONDO:0017443	biolink:NamedThing	congenital absence of both forearm and hand	Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.	mondoexuq1wtf	radio-ulnar terminal transverse meromelia											ICD10:Q71.2|Orphanet:294979																		owl:Class
MONDO:0001320	biolink:NamedThing	ring staphyloma		mondoexuq1wtf						Editor note: consider placing in HPO						SCTID:5299007|ICD10:H15.85|DOID:11594|UMLS:C0155363|ICD9:379.15																		owl:Class
MONDO:0006467	biolink:NamedThing	thyroid gland squamous cell carcinoma	A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.	mondoexuq1wtf	squamous cell thyroid gland carcinoma|thyroid gland squamous cell carcinoma											EFO:1000594|UMLS:C1710177|NCIT:C46008																		owl:Class
MONDO:0009540	biolink:NamedThing	chronic mucocutaneous candidiasis due to lymphokine deficiency		mondoexuq1wtf	lymphokine deficiency											UMLS:C1855471|MESH:C565428|OMIM:247650																		owl:Class
MONDO:0010061	biolink:NamedThing	autosomal recessive cerebellar ataxia-blindness-deafness syndrome		mondoexuq1wtf	autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|spinocerebellar ataxia with blindness and deafness|autosomal recessive spinocerebellar ataxia type 3|spinocerebellar ataxia, autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|SCAR3|SCABD|spinocerebellar ataxia autosomal recessive 3											OMIM:271250|GARD:0009971|Orphanet:95433|UMLS:C1849094|MESH:C537309|ICD10:G11.1|DOID:0111612																		owl:Class
MONDO:0024569	biolink:NamedThing	optic atrophy 8		mondoexuq1wtf	OPA8|optic atrophy 8											OMIM:616648|DOID:0111439																		owl:Class
MONDO:0015721	biolink:NamedThing	mild hemophilia A	Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	mild factor VIII deficiency|mild hemophilia type A											SCTID:26029002|UMLS:C0272324|ICD10:D66|Orphanet:169808																		owl:Class
MONDO:0100388	biolink:NamedThing	acute myeloid leukemia, Monosomy 5	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)	mondoexuq1wtf	AML, Monosomy 5																													owl:Class
MONDO:0006847	biolink:NamedThing	malignant lymphatic vessel tumor	Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.	mondoexuq1wtf						Editor note: do not axiomatize as cancer of lymphatic vessel						EFO:1001032																		owl:Class
MONDO:0008037	biolink:NamedThing	myelinated optic nerve fibers		mondoexuq1wtf	myelinated optic nerve fibers											OMIM:159500																		owl:Class
MONDO:0030700	biolink:NamedThing	autoimmune glomerulonephritis	An autoimmune form of glomerulonephritis (disease).	mondoexuq1wtf	autoimmune glomerulonephritis (disease)											DOID:0040094																		owl:Class
MONDO:0030875	biolink:NamedThing	frontotemporal dementia and/or amyotrophic lateral sclerosis 5		mondoexuq1wtf	FTDALS5|frontotemporal dementia and/or amyotrophic lateral sclerosis 5											OMIM:619141																		owl:Class
MONDO:0007559	biolink:NamedThing	photoparoxysmal response 1		mondoexuq1wtf	Photoconvulsive reaction|Ppr|photosensitivity|epilepsy, photogenic|PPR1|photoparoxysmal response 1											OMIM:132100|UMLS:C1868677																		owl:Class
MONDO:0007327	biolink:NamedThing	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase		mondoexuq1wtf	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C											MESH:C566126|OMIM:118830|Orphanet:411|UMLS:C1861560|DOID:0111419																		owl:Class
MONDO:0017602	biolink:NamedThing	ALK-positive anaplastic large cell lymphoma	ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).	mondoexuq1wtf	ALKoma|anaplastic large cell lymphoma, ALK-positive|ALCL, ALK+|ALK-positive anaplastic large cell lymphoma|ALK+ anaplastic large cell lymphoma|ALK+ ALCL											ICD10:C84.6|ICDO:9714/3|UMLS:C1332079|NCIT:C37193|Orphanet:300895																		owl:Class
MONDO:0015641	biolink:NamedThing	benign infantile focal epilepsy with midline spikes and wave during sleep	Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	mondoexuq1wtf	BIMSE|benign infantile focal epilepsy with midline spikes and waves during sleep											Orphanet:166308																		owl:Class
MONDO:0018250	biolink:NamedThing	diffuse palmoplantar keratoderma with painful fissures		mondoexuq1wtf												Orphanet:369999|ICD10:Q82.8|UMLS:CN204824																		owl:Class
MONDO:0011166	biolink:NamedThing	lymphedema-atrial septal defects-facial changes syndrome	Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.	mondoexuq1wtf	Irons Bhan syndrome|Irons-Bhan syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|lymphedema, CARDIAC septal defects, and characteristic facies|Irons-Bianchi syndrome|lymphedema, atrial septal defect, and characteristic facial changes|lymphedema, atrial septal defect, and characteristic facies											MESH:C567398|OMIM:601927|MESH:C535539|GARD:0000284|SCTID:721978002|ICD10:Q87.8|Orphanet:86915														https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome				owl:Class
MONDO:0023577	biolink:NamedThing	Krieble Bixler syndrome		mondoexuq1wtf	autosomal dominant blepharophimosis with multiple congenital anomalies											UMLS:C2931550|GARD:0003144|MESH:C537619														https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome				owl:Class
MONDO:0013258	biolink:NamedThing	autism, susceptibility to, 16		mondoexuq1wtf	autism, susceptibility to, type 16|AUTS16|susceptibility to autism 16|autism, susceptibility to, 16|autism with or without seizures											OMIM:613410																		owl:Class
MONDO:0043959	biolink:NamedThing	pseudolymphoma	A neoplastic process that resembles a malignant lymphoma, but has a benign course.	mondoexuq1wtf	lymphocytomas|benign lymphoid hyperplasia|lymphoid hyperplasia, reactive|hyperplasia, reactive lymphoid|reactive lymphoid hyperplasia|pseudolymphomas|reactive lymphoid Hyperplasias|lymphocytoma|pseudolymphoma|hyperplasias, reactive lymphoid|lymphoid Hyperplasias, reactive											EFO:1001414|SCTID:19750001|UMLS:C0221269|MESH:D019310|NCIT:C3825																		owl:Class
MONDO:0012684	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 12	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.	mondoexuq1wtf	arrhythmogenic right ventricular dysplasia type 12|ARVD12|arrhythmogenic right ventricular dysplasia, familial, 12|arrhythmogenic right ventricular dysplasia, familial, type 12|arrhythmogenic right ventricular cardiomyopathy 12|familial arrhythmogenic right ventricular dysplasia 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP|ARVC12|JUP familial isolated arrhythmogenic right ventricular dysplasia											UMLS:C1969081|OMIM:611528|ICD10:I42.8|DOID:0110083|MESH:C566925																		owl:Class
MONDO:0019335	biolink:NamedThing	mild hyperphenylalaninemia	Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.	mondoexuq1wtf	non-PKU HPA|mild HPA|mHPA											ICD10:E70.1|Orphanet:79651																		owl:Class
MONDO:0011039	biolink:NamedThing	atrophia maculosa varioliformis cutis, familial		mondoexuq1wtf	atrophia MACULOSA VARIOLIFORMIS cutis, familial|atrophia maculosa varioliformis cutis, familial|AMVC|varioliform macular atrophy of the skin											OMIM:601341|MESH:C563349|UMLS:C1832465																		owl:Class
MONDO:0015377	biolink:NamedThing	third branchial cleft anomaly		mondoexuq1wtf	third branchial cleft fistula|third branchial cleft cyst											ICD10:Q18.0|SCTID:73391000119102|Orphanet:141030																		owl:Class
MONDO:0008303	biolink:NamedThing	familial male-limited precocious puberty	Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.	mondoexuq1wtf	familial gonadotropin-independent male-limited sexual precocity|testotoxicosis, familial|peripheral precocious puberty caused by mutation in LHCGR|male-limited precocious puberty|precocious puberty, male-limited|familial Testotoxicosis (subtype)|LHCGR peripheral precocious puberty|FMPP|Leydig cell adenoma, somatic, with male-limited precocious puberty|sexual precocity, familial, gonadotropin-independent|pubertas praecox|precocious puberty, male limited|testotoxicosis											DOID:0111545|GARD:0004475|Orphanet:3000|UMLS:C1504412|MedDRA:10063654|OMIM:176410|SCTID:237818003|MedDRA:10063656|ICD10:E30.1																		owl:Class
MONDO:0024639	biolink:NamedThing	gastric enterochromaffin cell serotonin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.	mondoexuq1wtf	gastric EC-cell serotonin-producing neuroendocrine tumor|gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor											UMLS:C3274137|NCIT:C27443																		owl:Class
MONDO:0700006	biolink:NamedThing	non-idiopathic	A disease characteristic in which the disease has a known cause.	mondoexuq1wtf								http://orcid.org/0000-0002-4142-7153																						owl:Class
MONDO:0007870	biolink:NamedThing	labia minora, incomplete adhesion of		mondoexuq1wtf	labia minora, incomplete adhesion of											OMIM:149600																		owl:Class
MONDO:0009462	biolink:NamedThing	inosine phosphorylase deficiency, immune defect due to		mondoexuq1wtf	inosine phosphorylase deficiency, immune defect due to											MESH:C565465|UMLS:C1855737|OMIM:243080																		owl:Class
MONDO:0010843	biolink:NamedThing	dyslexia, susceptibility to, 2		mondoexuq1wtf	DYX2|reading disability, specific, 2|dyslexia, susceptibility to, 2											OMIM:600202																		owl:Class
MONDO:0013882	biolink:NamedThing	hyperphosphatasia with intellectual disability syndrome 2	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.	mondoexuq1wtf	hyperphosphatasia with mental retardation syndrome type 2|HPMRS2|hyperphosphatasia with intellectual disability syndrome type 2|hyperphosphatasia with mental retardation syndrome 2|glycosylphosphatidylinositol biosynthesis defect 6|hyperphosphatasia with intellectual disability syndrome 2|PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO											OMIM:614749|UMLS:C3553637																		owl:Class
MONDO:0010887	biolink:NamedThing	isolated anterior cervical hypertrichosis	Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.	mondoexuq1wtf	hairy throat syndrome|hypertrichosis, anterior cervical|Tsukahara Kajii syndrome|anterior cervical hypertrichosis|hairy throat|Tsukahara-Kajii syndrome											GARD:0008438|SCTID:717963001|Orphanet:3387|OMIM:600457|UMLS:C1838123|MESH:C538390|ICD10:L68.2														https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis				owl:Class
MONDO:0005757	biolink:NamedThing	eumycotic mycetoma	A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.	mondoexuq1wtf	eumycetoma|Maduromycosis, mycotic|mycotic mycetoma|maduromycosis|Madura foot											EFO:0007265|ICD9:117.4|SCTID:410038006|DOID:13078|ICD10:B47|ICD10:B47.9																		owl:Class
MONDO:0009447	biolink:NamedThing	ichthyosis, split hairs, and amino aciduria		mondoexuq1wtf	ichthyosis, split hairs, and amino aciduria											MESH:C565471|OMIM:242550|UMLS:C1855786																		owl:Class
MONDO:0007680	biolink:NamedThing	multinodular goiter-cystic kidney-polydactyly syndrome	Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.	mondoexuq1wtf	Daneman Davy Mancer syndrome|thyroid-renal-digital anomalies|goiter, multinodular, cystic renal disease, and digital anomalies|multinodular goiter - cystic kidney - polydactyly|multinodular goiter, cystic renal disease, and digital anomalies|multinodular goiter/cystic renal disease/digital anomalies|Daneman-Davy-Mancer syndrome|MNG/CRD/Da											Orphanet:2091|SCTID:723409007|ICD10:Q87.8|UMLS:C1841853|GARD:0001671|MESH:C535986|OMIM:138790																		owl:Class
MONDO:0008452	biolink:NamedThing	spinal muscular atrophy, facioscapulohumeral type		mondoexuq1wtf	Fshsma|spinal muscular atrophy, facioscapulohumeral type											OMIM:182970|MESH:C566674|UMLS:C1866783																		owl:Class
MONDO:0010245	biolink:NamedThing	X-linked cone-rod dystrophy 2		mondoexuq1wtf	CORDX2|COD2|X-linked cone dystrophy 2|cone-rod dystrophy, X-linked, 2|cone-rod dystrophy X-linked 2|cone dystrophy X-linked 2|X-linked cone-rod dystrophy type 2|cone dystrophy 2, X-linked											DOID:0111006|OMIM:300085|MESH:C564717|GARD:0001462														https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2				owl:Class
MONDO:0013830	biolink:NamedThing	keratoconus 5		mondoexuq1wtf	KTCN5|keratoconus 5											UMLS:C3553302|OMIM:614622																		owl:Class
MONDO:0013739	biolink:NamedThing	chilblain lupus 2	Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.	mondoexuq1wtf	chilblain lupus 2|Chilblain lupus type 2|chilblain lupus caused by mutation in SAMHD1|CHBL2|SAMHD1 chilblain lupus											OMIM:614415|UMLS:C3280721																		owl:Class
MONDO:0015270	biolink:NamedThing	butyrylcholinesterase deficiency	Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.	mondoexuq1wtf	BCHED|apnea, postanesthetic|butyrylcholinesterase deficiency|succinylcholine sensitivity|pseudocholinesterase deficiency|Acholinesterasemia|hypocholinesterasemia, fluoride-resistant, Japanese type|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|pseudocholinesterase E1|Suxamethonium sensitivity|cholinesterase 2 deficiency											ICD9:289.89|MESH:C537417|SCTID:191397007|UMLS:C1283400|OMIM:617936|Orphanet:132|GARD:0007482																		owl:Class
MONDO:0011582	biolink:NamedThing	multiple mitochondrial dysfunctions syndrome 1	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.	mondoexuq1wtf	Mmds|MMDS1|multiple mitochondrial dysfunctions syndrome 1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|NFU1 deficiency|multiple mitochondrial dysfunctions syndrome type 1|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1											UMLS:C3276432|OMIM:605711|UMLS:CN226135|ICD10:E88.8|Orphanet:401869|DOID:0080133																		owl:Class
MONDO:0016670	biolink:NamedThing	sickle cell-hemoglobin d disease syndrome		mondoexuq1wtf	sickle cell - hemoglobin D disease|HbSD disease											GARD:0012458|UMLS:C0272084|ICD10:D57.2|MedDRA:10056724|Orphanet:251370																		owl:Class
CL:0002101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008135	biolink:NamedThing	optic atrophy 13 with retinal and foveal abnormalities		mondoexuq1wtf	optic atrophy 13 with retinal and foveal abnormalities|optic atrophy with negative Electroretinograms											UMLS:C1833799|OMIM:165510|MESH:C563494																		owl:Class
MONDO:0013230	biolink:NamedThing	epilepsy, hot water, 2		mondoexuq1wtf	epilepsy, hot water, 2|HWE2											OMIM:613340|UMLS:C3150536																		owl:Class
MONDO:0001645	biolink:NamedThing	crescentic glomerulonephritis	A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.	mondoexuq1wtf	crescentic glomerulonephritis|crescentic glomerulonephritis (disease)		crescentic glomerulonephritis (disease)									HP:0008653|ICD9:580.4|NCIT:C35444|SCTID:236398000|DOID:13139																		owl:Class
MONDO:0007165	biolink:NamedThing	spastic ataxia 7	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	mondoexuq1wtf	spastic ataxia with congenital miosis|SPAX7|spastic ataxia 7, autosomal dominant|miosis, congenital, with spastic ataxia|spastic ataxia type 7|autosomal dominant spastic ataxia type 7											Orphanet:1182|MESH:C566247|ICD10:G11.4|UMLS:C1862441|SCTID:763669001|DOID:0050945|OMIM:108650																		owl:Class
MONDO:0022760	biolink:NamedThing	chromosome 22q deletion		mondoexuq1wtf	deletion 22q|monosomy 22q|22q monosomy|22q deletion|partial monosomy 22q											GARD:0008668														https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion				owl:Class
MONDO:0015165	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.	mondoexuq1wtf	AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor											ICD10:C92.0|Orphanet:102381|UMLS:CN197505																		owl:Class
MONDO:0014718	biolink:NamedThing	developmental and epileptic encephalopathy, 34	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.	mondoexuq1wtf	DEE34|SLC12A5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SLC12A5|epileptic encephalopathy, early infantile, 34|epileptic encephalopathy, early infantile, 34; EIEE34|EIEE34|epileptic encephalopathy, early infantile, type 34											UMLS:C4225257|OMIM:616645|DOID:0080460																		owl:Class
MONDO:0008594	biolink:NamedThing	familial multiple discoid fibromas	A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	mondoexuq1wtf	trichodiscomas, familial multiple|familial multiple trichodiscomas|discoid fibromas, familial multiple|small benign fibrovascular tumor of the dermal part of the hair disk|hereditary multiple trichodiscomas|FMDF											UMLS:C1860850|OMIM:190340|Orphanet:538756|GARD:0008479|MESH:C536847																		owl:Class
CL:0000819	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0015272	biolink:NamedThing	camptodactyly-taurinuria syndrome	Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	mondoexuq1wtf	familial streblodactyly with amino-aciduria|camptodactyly with taurinuria|camptodactyly taurinuria											SCTID:733466005|ICD10:Q68.1|UMLS:C2931681|GARD:0001069|MESH:C537972|Orphanet:1325																		owl:Class
MONDO:0019876	biolink:NamedThing	8p inverted duplication/deletion syndrome	8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.	mondoexuq1wtf	Invdupdel(8p)|inverted 8p duplication/deletion syndrome											UMLS:CN206812|ICD10:Q99.8|Orphanet:96092|SCTID:718188007																		owl:Class
MONDO:0020348	biolink:NamedThing	acute motor and sensory axonal neuropathy	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS).	mondoexuq1wtf	AMSAN|acute motor-sensory axonal neuropathy|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal GBS|acute motor-sensory axonal Guillain-Barré syndrome											UMLS:CN207195|NCIT:C116927|SCTID:716722005|ICD10:G61.0|Orphanet:98917																		owl:Class
MONDO:0008297	biolink:NamedThing	variegate porphyria	Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.	mondoexuq1wtf	variegate porphyria|Protocoproporphyria|porphyria, South African type|VP|porphyria variegata|protoporphyrinogen oxidase deficiency|variegate porphyria, homozygous variant|porphyria variegate|PPOX deficiency											NCIT:C85219|OMIM:176200|GARD:0007848|ICD10:E80.2|Orphanet:79473|UMLS:C0162532|DOID:4346|SCTID:58275005|MESH:D046350														https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria				owl:Class
MONDO:0042962	biolink:NamedThing	Slti-Salem syndrome		mondoexuq1wtf	hypogonadism and frontoparietal alopecia|Slti Salem syndrome|hypogonadotropic hypogonadism alopecia											UMLS:C2931284|MESH:C536673|GARD:0000324|MEDGEN:419036																		owl:Class
MONDO:0010406	biolink:NamedThing	chromosome Xp11.22 duplication syndrome		mondoexuq1wtf	mental retardation, X-linked 31|mental retardation, X-linked 17|intellectual disability, X-linked 31|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17											OMIM:300705																		owl:Class
MONDO:0043112	biolink:NamedThing	lachiewicz sibley syndrome		mondoexuq1wtf	hereditary renal disease and preauricular pits											MESH:C538131|GARD:0003157|UMLS:C2931742																		owl:Class
MONDO:0017622	biolink:NamedThing	congenital sucrase-isomaltase deficiency without sucrose intolerance		mondoexuq1wtf	disaccharide intolerance without sucrose intolerance|CSID without sucrose intolerance|congenital sucrose-isomaltose malabsorption without sucrose intolerance											ICD10:E74.3|Orphanet:306486																		owl:Class
MONDO:0014867	biolink:NamedThing	spinocerebellar ataxia 43	Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	mondoexuq1wtf	MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43|spinocerebellar ataxia 43; SCA43|autosomal dominant cerebellar ataxia caused by mutation in MME|spinocerebellar ataxia type 43|SCA43											OMIM:617018|DOID:0111745|Orphanet:497764|EFO:0009060|UMLS:C4310763																		owl:Class
MONDO:0012185	biolink:NamedThing	spondylometaphyseal dysplasia, A4 type		mondoexuq1wtf	spondylometaphyseal dysplasia, type A4|spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia A4 type											Orphanet:168555|OMIM:609052|GARD:0000458|ICD10:Q77.8|UMLS:C1836862|MESH:C563803														https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4				owl:Class
MONDO:0013742	biolink:NamedThing	familial mesial temporal lobe epilepsy with febrile seizures		mondoexuq1wtf	febrile seizures, familial, type 11|febrile seizures, familial, 11|FEB11											Orphanet:165805																		owl:Class
MONDO:0033552	biolink:NamedThing	blood group, lewis system		mondoexuq1wtf	LE|Lewis-Negative Phenotype|BLOOD GROUP, LEWIS SYSTEM|Lewis Blood Group System											OMIM:618983																		owl:Class
MONDO:0009311	biolink:NamedThing	grouped pigmentation of the retina		mondoexuq1wtf	grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the retina|grouped pigmentation of the macula											MESH:C565530|UMLS:C1856244|OMIM:233800																		owl:Class
MONDO:0044328	biolink:NamedThing	short-rib thoracic dysplasia 20 with polydactyly	Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).	mondoexuq1wtf	short-rib thoracic dysplasia 20 with polydactyly|SRTD20											UMLS:CN902090|OMIM:617925																		owl:Class
MONDO:0010673	biolink:NamedThing	modifier, X-linked, for Neurofunctional defects		mondoexuq1wtf	Tourette syndrome, modifier of|modifier, X-linked, for Neurofunctional defects											OMIM:309840|UMLS:C1839708|MESH:C564098																		owl:Class
MONDO:0016639	biolink:NamedThing	lower limb deficiency-hypospadias syndrome	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	mondoexuq1wtf	lower limb malformation-hypospadias syndrome|Fried-Goldberg-Mundel syndrome											UMLS:C2930962|Orphanet:2487|MESH:C535640																		owl:Class
MONDO:0011825	biolink:NamedThing	streptococcus, group A, severity of infection by		mondoexuq1wtf	streptococcus, group A, severity of infection by											OMIM:607395																		owl:Class
MONDO:0010365	biolink:NamedThing	myopathy, congenital, with fiber-type disproportion, X-linked		mondoexuq1wtf	myopathy, congenital, with fiber-type disproportion, X-linked|CFTDX											MESH:C567594|DOID:0111226|UMLS:C2749128|OMIM:300580																		owl:Class
MONDO:0032646	biolink:NamedThing	congenital anomalies of kidney and urinary tract 3		mondoexuq1wtf	CAKUT3|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3											OMIM:618270																		owl:Class
MONDO:0012469	biolink:NamedThing	myopia 14		mondoexuq1wtf	myopia 14|MYP14											OMIM:610320|UMLS:C1853196|MESH:C565202																		owl:Class
MONDO:0008041	biolink:NamedThing	myoclonic epilepsy, Hartung type		mondoexuq1wtf	myoclonic epilepsy, Hartung type											UMLS:C1834581|MESH:C563550|OMIM:159600																		owl:Class
MONDO:0020304	biolink:NamedThing	isochromosomy Yp	Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	mondoexuq1wtf												ICD10:Q98.6|SCTID:766708008|Orphanet:98797																		owl:Class
MONDO:0002850	biolink:NamedThing	central nervous system rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.	mondoexuq1wtf	rhabdomyosarcoma of central nervous system|central nervous system rhabdomyosarcoma (disease)|rhabdomyosarcoma of CNS|rhabdomyosarcoma (disease) of central nervous system|CNS rhabdomyosarcoma|rhabdomyosarcoma of the CNS|central nervous system rhabdomyosarcoma|rhabdomyosarcoma of the central nervous system											NCIT:C5464|UMLS:C1332891|DOID:4048																		owl:Class
MONDO:0019322	biolink:NamedThing	pemphigus vegetans		mondoexuq1wtf												ICD10:L10.1|EFO:0008613|UMLS:CN205981|MedDRA:10057053|UMLS:C0263316|Orphanet:79479|SCTID:81285006																		owl:Class
MONDO:0032706	biolink:NamedThing	spinocerebellar ataxia, autosomal recessive 27		mondoexuq1wtf	SCAR27|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27											DOID:0111616|OMIM:618369																		owl:Class
MONDO:0014068	biolink:NamedThing	cone-rod dystrophy 17	A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.	mondoexuq1wtf	CORD17|cone-rod dystrophy type 17|cone-rod dystrophy 17											DOID:0111023|UMLS:C3554610|OMIM:615163																		owl:Class
MONDO:0013878	biolink:NamedThing	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.	mondoexuq1wtf	pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|PFBMFT1|TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1											UMLS:C3553617|EFO:1001501|OMIM:614742																		owl:Class
MONDO:0016346	biolink:NamedThing	hydrocephalus-obesity-hypogonadism syndrome	This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	mondoexuq1wtf	Sengers-Hamel-Otten syndrome|hydrocephalus obesity hypogonadism|congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism											Orphanet:2183|SCTID:721231007|GARD:0002775|UMLS:CN201182																		owl:Class
MONDO:0002418	biolink:NamedThing	ethmoid sinus adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the epithelial cell	mondoexuq1wtf	adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus											DOID:2766|NCIT:C6237|UMLS:C1333472																		owl:Class
MONDO:0004909	biolink:NamedThing	urethral gland abscess		mondoexuq1wtf												DOID:9877|SCTID:444820005|ICD9:597.0|ICD10:N34.0																		owl:Class
MONDO:0008589	biolink:NamedThing	tremor of intention, ataxia, and lipofuscinosis		mondoexuq1wtf	tremor of intention, ataxia, and lipofuscinosis											UMLS:C1860872|OMIM:190200|MESH:C566038																		owl:Class
MONDO:0032928	biolink:NamedThing	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant		mondoexuq1wtf	TLIND|T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT											OMIM:618806																		owl:Class
MONDO:0010620	biolink:NamedThing	hypouricemia, familial renal, due to tubular hypersecretion		mondoexuq1wtf	hypouricemia, familial renal, due to tubular hypersecretion											MESH:C564405|UMLS:C1843972|OMIM:307830																		owl:Class
MONDO:0033555	biolink:NamedThing	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		mondoexuq1wtf	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA|IMD73C											OMIM:618987																		owl:Class
MONDO:0012887	biolink:NamedThing	inflammatory bowel disease 23	An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.	mondoexuq1wtf	inflammatory bowel disease type 23|IBD23|inflammatory bowel disease 23											DOID:0110884|UMLS:C2676484|OMIM:612381|MESH:C567326																		owl:Class
MONDO:0003678	biolink:NamedThing	silent myocardial infarction	A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.	mondoexuq1wtf	silent myocardial infarction											NCIT:C35400|UMLS:C0340324|SCTID:233843008|DOID:5854																		owl:Class
MONDO:0011416	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 1		mondoexuq1wtf	GEFSP1|generalized epilepsy with febrile seizures plus, type 1|Gefs+, type 1											OMIM:604233|MESH:C565809|UMLS:C1858672|DOID:0111302																		owl:Class
MONDO:0045016	biolink:NamedThing	cholesterol catabolic process disease	A disease that has its basis in the disruption of cholesterol catabolic process.	mondoexuq1wtf	disorder of cholesterol catabolism|cholesterol catabolism disease|disorder of cholesterol catabolic process											SCTID:238032002|UMLS:C0342825																		owl:Class
MONDO:0016411	biolink:NamedThing	hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	mondoexuq1wtf												Orphanet:226307|ICD10:E03.1|UMLS:CN201345																		owl:Class
MONDO:0005188	biolink:NamedThing	iatrogenic Kaposi's sarcoma	A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.	mondoexuq1wtf	iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma											UMLS:C1334149|NCIT:C35873|EFO:0002613																		owl:Class
MONDO:0010824	biolink:NamedThing	disorder of sex development-intellectual disability syndrome	Verloes-Gillerot-Fryns syndrome is a rare association of malformations.	mondoexuq1wtf	Male pseudohermaphroditism intellectual disability syndrome, Verloes type|male pseudohermaphroditism/intellectual disability syndrome, Verloes type|disorder of sex development intellectual disability|Verloes syndrome|male pseudohermaphroditism/mental retardation syndrome, Verloes type|Verloes Gillerot Fryns syndrome|pseudohermaphroditism-intellectual disability syndrome|Verloes-Gillerot-Fryns syndrome											SCTID:719450007|GARD:0004550|ICD10:Q56.3|Orphanet:2983|MESH:C535693|OMIM:600122																		owl:Class
MONDO:0032864	biolink:NamedThing	intellectual developmental disorder with speech delay, autism, and dysmorphic facies		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES|IDDSADF											OMIM:618672																		owl:Class
MONDO:0001694	biolink:NamedThing	diffuse interstitial keratitis		mondoexuq1wtf												UMLS:C0155089|SCTID:17157001|DOID:13353|ICD9:370.52|COHD:436407|ICD10:H16.32																		owl:Class
MONDO:0019647	biolink:NamedThing	congenital bilateral megacalycosis		mondoexuq1wtf												Orphanet:93177|ICD10:Q63.8																		owl:Class
MONDO:0009585	biolink:NamedThing	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria		mondoexuq1wtf	Beta-mercaptolactate cysteine disulfiduria|Ampola syndrome|mercaptolactate-cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|MCDU|disulfiduria, mixed											ICD10:E72.1|OMIM:249650|GARD:0000654|UMLS:C0796055|Orphanet:1035|MESH:C563085																		owl:Class
MONDO:0008231	biolink:NamedThing	Peyronie disease	A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.	mondoexuq1wtf	Peyronie's fibromatosis|Induratio penis plastica|Peyronie disease|Peyronie's disease											COHD:196157|DOID:8616|ICD10:N48.6|UMLS:C0030848|ICD9:607.85|OMIM:171000																		owl:Class
MONDO:0010573	biolink:NamedThing	cutis verticis gyrata, thyroid aplasia, and intellectual disability		mondoexuq1wtf	cutis verticis gyrata, thyroid aplasia, and intellectual disability|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|Akesson syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome											OMIM:304200|UMLS:CN237776|MESH:C535610|GARD:0000578|Orphanet:79482																		owl:Class
MONDO:0010324	biolink:NamedThing	intellectual disability, X-linked 81		mondoexuq1wtf	MRX81|mental retardation, X-linked 81|intellectual disability, X-linked 81											UMLS:C1845531|MESH:C564515|OMIM:300433																		owl:Class
MONDO:0022883	biolink:NamedThing	craniofacial and skeletal defects		mondoexuq1wtf												GARD:0001570														https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects				owl:Class
MONDO:0024549	biolink:NamedThing	microphthalmia with coloboma 1		mondoexuq1wtf	microphthalmia, colobomatous, isolated 1|microphthalmia, isolated, with coloboma 1|MCOPCB1											OMIM:300345																		owl:Class
MONDO:0013658	biolink:NamedThing	intellectual disability, autosomal dominant 11	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.	mondoexuq1wtf	intellectual disability, autosomal dominant type 11|autosomal dominant mental retardation 11|MRD11|EPB41L1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 11|autosomal dominant non-syndromic intellectual disability 11|intellectual disability, autosomal dominant 11|autosomal dominant intellectual disability 11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|mental retardation, autosomal dominant type 11											UMLS:C3280285|DOID:0070041|OMIM:614257																		owl:Class
MONDO:0023066	biolink:NamedThing	enchondromatosis dwarfism deafness		mondoexuq1wtf	Wallis cremin Beighton syndrome											GARD:0000294														https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness				owl:Class
MONDO:0020790	biolink:NamedThing	gaze palsy, familial horizontal, with progressive scoliosis 1		mondoexuq1wtf	HGPPS1|HGPPS|Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1											OMIM:607313																		owl:Class
MONDO:0020777	biolink:NamedThing	congenital disorder of glycosylation with defective fucosylation 2		mondoexuq1wtf	CDGF2|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2											OMIM:618324																		owl:Class
MONDO:0001401	biolink:NamedThing	female breast nipple and areola cancer		mondoexuq1wtf	malignant neoplasm of nipple and areola of female breast|malignant neoplasm of nipple or areola of female breast											UMLS:C0024621|SCTID:188147009|DOID:11889|ICD9:174.0																		owl:Class
MONDO:0030064	biolink:NamedThing	episodic ataxia, type 9		mondoexuq1wtf	episodic ataxia, type 9|EPISODIC ATAXIA, TYPE 9|EA9											OMIM:618924																		owl:Class
MONDO:0012457	biolink:NamedThing	pyloric stenosis, infantile hypertrophic, 2		mondoexuq1wtf	IHPS2|pyloric stenosis, infantile hypertrophic, 2											OMIM:610260|MESH:C565208|UMLS:C1853228																		owl:Class
MONDO:0032779	biolink:NamedThing	neurodevelopmental disorder with microcephaly and structural brain anomalies		mondoexuq1wtf	NEDMIBA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES											OMIM:618492																		owl:Class
MONDO:0022734	biolink:NamedThing	chorioretinopathy dominant form microcephaly		mondoexuq1wtf												GARD:0001308														https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly				owl:Class
MONDO:0007645	biolink:NamedThing	gastric sneezing		mondoexuq1wtf	gastric sneezing|stomach sneeze reflex											MESH:C564990|OMIM:137130|UMLS:C1850930																		owl:Class
MONDO:0013614	biolink:NamedThing	hypertelorism-preauricular sinus-punctual pits-deafness syndrome		mondoexuq1wtf	HPPD|hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome|hypertelorism, preauricular sinus, punctal pits, and deafness											Orphanet:293958|UMLS:C3280065|OMIM:614187																		owl:Class
MONDO:0000363	biolink:NamedThing	gummatous syphilis	A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.	mondoexuq1wtf												DOID:0050584																		owl:Class
MONDO:0021812	biolink:NamedThing	adnexal spiradenoma/cylindroma of a sweat gland	A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.	mondoexuq1wtf	adnexal sweat gland spiradenoma/cylindroma|cylindroma of the skin|cylindroma of skin|cylindroma|dermal cylindroma					Editor note: See GARD:0010464						NCIT:C27094|SCTID:274903001|GARD:0008641|ICDO:8200/0														https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland				owl:Class
MONDO:0001569	biolink:NamedThing	acoustic neuroma	A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.	mondoexuq1wtf	acoustic neurilemmoma|neurinoma of the acoustic nerve|Neuroma, acoustic|acoustic neurilemoma|acoustic tumor|vestibular schwannoma|neurilemoma, acoustic|acoustic neurinoma|vestibular neurilemmoma|acoustic Neuroma|acoustic schwannoma					Editor note: check relationship to vestibular schwannoma (disease)						SCTID:126949007|GARD:0000223|MESH:D009464|DOID:12689|NCIT:C3276|CSP:2012-6947																		owl:Class
MONDO:0023031	biolink:NamedThing	dysostosis acral with facial and genital abnormalities		mondoexuq1wtf												GARD:0002013														https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities				owl:Class
MONDO:0042956	biolink:NamedThing	Saal-Bulas syndrome		mondoexuq1wtf	Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum											MESH:C537193|UMLS:C2931439|GARD:0000311																		owl:Class
MONDO:0007317	biolink:NamedThing	chlorpropamide-alcohol flushing		mondoexuq1wtf	chlorpropamide-alcohol flushing|CPAF|CHLORPROPAMIDE-alcohol flushing											UMLS:C1861630|OMIM:118430																		owl:Class
MONDO:0018969	biolink:NamedThing	craniorachischisis	Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.	mondoexuq1wtf	craniorachischisis (disease)|craniorachischisis|cranial rachischisis		craniorachischisis (disease)									NCIT:C98907|HP:0030770|ICD10:Q00.1|ICD9:740.1|GARD:0010504|SCTID:32219008|Orphanet:63260|COHD:372727|MedDRA:10011321|UMLS:C0152426																		owl:Class
MONDO:0006659	biolink:NamedThing	arteriosclerosis obliterans	Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.	mondoexuq1wtf	arteriosclerosis obliterans (disorder) [ambiguous]											ICD9:440.8|DOID:5160|MedDRA:10065418|SCTID:361133006|EFO:1000820|MESH:D001162|UMLS:C0003851																		owl:Class
MONDO:0003139	biolink:NamedThing	mesangial proliferative glomerulonephritis	Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.	mondoexuq1wtf	mesangial proliferative GN|glomerulonephritis - mesangial proliferative|Mesangioproliferative glomerulonephritis											NCIT:C35445|DOID:4783|SCTID:35546006|GARD:0009580|UMLS:C0221238														https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis				owl:Class
MONDO:0007571	biolink:NamedThing	primary erythermalgia	Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.	mondoexuq1wtf	Mitchell disease (formerly)|erythromelalgia, primary|primary erythromelalgia|PERYTHM|neuropathy, small Fiber|erythermalgia, primary|erythromelalgia, familial					Editor note: consider link to MONDO:0016028						UMLS:C0014805|GARD:0006377|NCIT:C125383|SCTID:709489006|OMIM:133020|ICD10:I73.8|Orphanet:90026																		owl:Class
MONDO:0018208	biolink:NamedThing	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		mondoexuq1wtf	Von Recklinghausen disease due to NF1 mutation or intragenic deletion											Orphanet:363700|UMLS:CN204726|ICD10:Q85.0																		owl:Class
MONDO:0060611	biolink:NamedThing	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		mondoexuq1wtf	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|CIMAH|methylenetetrahydrofolate dehydrogenase 1 deficiency											UMLS:C4540434|OMIM:617780																		owl:Class
MONDO:0009120	biolink:NamedThing	diverticulosis of bowel, hernia, and retinal detachment	A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	mondoexuq1wtf	Marphanoid syndrome type De Silva|marfanoid syndrome, De Silva type|diverticulosis of bowel, hernia, and retinal detachment					The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease.						UMLS:C1857227|OMIM:223330|GARD:0003401|Orphanet:2464|MESH:C565619																		owl:Class
MONDO:0022900	biolink:NamedThing	athyreotic congenital hypothyroidism	Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)	mondoexuq1wtf	cretinism athyreotic											GARD:0001610														https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic				owl:Class
MONDO:0011318	biolink:NamedThing	Tonoki syndrome		mondoexuq1wtf	short stature, brachydactyly, nail dysplasia and mental retardation|Tonoki syndrome|short stature, brachydactyly, nail dysplasia and intellectual disability											GARD:0010219|OMIM:603396|UMLS:C1863918|MESH:C536967														https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome				owl:Class
MONDO:0011111	biolink:NamedThing	horns in sheep		mondoexuq1wtf	horns in sheep|Ho											OMIM:601563																		owl:Class
MONDO:0009497	biolink:NamedThing	Kifafa seizure disorder		mondoexuq1wtf	Complex familial seizure disorder|Kifafa seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Vitsala											MESH:C537708|OMIM:245180|UMLS:C0796010|GARD:0008420														https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder				owl:Class
MONDO:0006624	biolink:NamedThing	overactive bladder	Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.	mondoexuq1wtf	overactive bladder (disease)|overactive bladder		overactive bladder (disease)									HP:0000012|MedDRA:10020853|ICD9:596.51|EFO:1000781|SCTID:236633002|MESH:D053201																		owl:Class
MONDO:0020468	biolink:NamedThing	paternal uniparental disomy of chromosome 13	Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	mondoexuq1wtf	paternal uniparental disomy of chromosome type 13|UPD(13)pat											ICD10:Q99.8|Orphanet:99324																		owl:Class
MONDO:0029143	biolink:NamedThing	intellectual developmental disorder with hypertelorism and distinctive facies		mondoexuq1wtf	IDDHDF|INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES|chromosome 14q32 deletion syndrome											OMIM:618147																		owl:Class
MONDO:0011276	biolink:NamedThing	orofacial cleft 2		mondoexuq1wtf	orofacial cleft 2|cleft lip with or without cleft palate, nonsyndromic, 2|OFC2											OMIM:602966|DOID:0080396|MESH:C566419|UMLS:C1864323																		owl:Class
MONDO:0020526	biolink:NamedThing	acute megakaryoblastic leukemia in down syndrome		mondoexuq1wtf	DS-AMKL											Orphanet:99887|ICD10:C94.2|UMLS:CN207426																		owl:Class
MONDO:0004234	biolink:NamedThing	chronic lymphoproliferative disorder of NK-cells	An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.	mondoexuq1wtf	NK-cell large granular lymphocyte lymphocytosis|NK-cell lineage granular lymphocyte proliferative disorder|chronic NK-large granular lymphocyte lymphoproliferative disorder|NK-type lymphoproliferative disorder of granular lymphocytes|NK-LGLL|chronic NK lymphocytosis|indolent large granular NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of natural killer cells|NK-LGL leukemia|natural killer-cell large granular lymphocyte leukemia|CLPD-NK|chronic NK-LGL lymphoproliferative disorder|CNKL|chronic NK-cell lymphocytosis|chronic lymphoproliferative disorder of NK-cells|indolent NK-cell lymphoproliferative disorder											Orphanet:512017|SCTID:722955006|DOID:7465|UMLS:C1512709|NCIT:C39591|ICDO:9831/3																		owl:Class
MONDO:0016026	biolink:NamedThing	infant epilepsy with migrant focal crisis	An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.	mondoexuq1wtf												GARD:0002995|UMLS:C4510564|Orphanet:1943|ICD10:G40.4|SCTID:724274009														https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis				owl:Class
MONDO:0026404	biolink:NamedThing	X inactivation, familial skewed, 1		mondoexuq1wtf	X-inactivation, familial skewed, 1|SXI1|X INACTIVATION, FAMILIAL SKEWED, 1											OMIM:300087																		owl:Class
MONDO:0013160	biolink:NamedThing	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.	mondoexuq1wtf	congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-POMT2 related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|muscular dystrophy, congenital, Pomt2-related|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2											OMIM:613156|NCIT:C126690|UMLS:C3150416																		owl:Class
MONDO:0012606	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 2		mondoexuq1wtf	Mycobacterium tuberculosis, susceptibility to, type 2|mycobacterium tuberculosis, susceptibility to, 2|MTBS2											OMIM:611046																		owl:Class
MONDO:0017508	biolink:NamedThing	congenital absence/hypoplasia of fingers excluding thumb, bilateral		mondoexuq1wtf	digits 2-5 oligodactyly, bilateral|Adactyly of hand, bilateral|digits 2-5 hypodactyly, bilateral											ICD10:Q71.3|Orphanet:295114																		owl:Class
MONDO:0020406	biolink:NamedThing	complete atrioventricular canal-left heart obstruction syndrome		mondoexuq1wtf	CAVC-left heart obstruction syndrome|CAVC type A|complete atrioventricular canal type A											ICD10:Q21.2|Orphanet:99066|UMLS:CN207278																		owl:Class
MONDO:0005675	biolink:NamedThing	border disease	Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.	mondoexuq1wtf												MESH:D001882|UMLS:C0006008|EFO:0007177																		owl:Class
MONDO:0044206	biolink:NamedThing	otospondylomegaepiphyseal dysplasia, autosomal recessive		mondoexuq1wtf	chondrodystrophy with sensorineural deafness|OSMED|OSMEDB|Nance-Sweeney chondrodysplasia|Weissenbacher-Zweymuller syndrome|Weissenbacher-Zweymuller syndrome, formerly|Nance-Insley syndrome|otospondylomegaepiphyseal dysplasia, autosomal recessive											OMIM:215150																		owl:Class
MONDO:0004766	biolink:NamedThing	status asthmaticus	An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.	mondoexuq1wtf	severe asthma attack|asthma with status asthmaticus											MESH:D013224|DOID:9362|ICD10:J46|EFO:0008590|COHD:45769438|ICD9:493.91|NCIT:C122577|UMLS:C0038218|SCTID:708090002																		owl:Class
MONDO:0011347	biolink:NamedThing	craniosynostosis with ectopia lentis		mondoexuq1wtf	craniosynostosis with ectopia lentis											OMIM:603595|UMLS:C1863678|MESH:C566357																		owl:Class
MONDO:0004065	biolink:NamedThing	intermediate cell type choroid melanoma	Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	mondoexuq1wtf	intermediate cell type uveal melanoma of optic choroid|mixed cell melanoma of choroid|optic choroid intermediate cell type uveal melanoma|Intermediate cell type choroid melanoma											NCIT:C6100|DOID:6996|UMLS:C1334208																		owl:Class
MONDO:0018022	biolink:NamedThing	hemoglobin Lepore-beta-thalassemia syndrome		mondoexuq1wtf	HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome											ICD10:D56.8|Orphanet:330032|UMLS:CN227251																		owl:Class
MONDO:0011978	biolink:NamedThing	CoQ-responsive OXPHOS deficiency		mondoexuq1wtf	CoQ-responsive oxidative phosphorylation disorder|CoQ-responsive OXPHOS deficiency											OMIM:608158|UMLS:C1842463|GARD:0010240|MESH:C535470																		owl:Class
MONDO:0002044	biolink:NamedThing	spastic ectropion		mondoexuq1wtf												UMLS:C0155195|ICD9:374.13|SCTID:80846000|DOID:1571																		owl:Class
MONDO:0011681	biolink:NamedThing	episodic ataxia type 4	Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	mondoexuq1wtf	PATX|episodic ataxia, type 4|EA4|ataxia, periodic vestibulocerebellar|periodic vestibulocerebellar ataxia											ICD10:G11.8|Orphanet:79136|OMIM:606552|DOID:0050992|UMLS:C1847843|MESH:C564698|SCTID:718754008																		owl:Class
MONDO:0014029	biolink:NamedThing	osteogenesis imperfecta type 14	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.	mondoexuq1wtf	osteogenesis imperfecta type XIV|OI, type 14|OI14|osteogenesis imperfecta, type 14|osteogenesis imperfecta, type XIV|TMEM38B osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in TMEM38B											ICD10:Q78.0|OMIM:615066|UMLS:C3554428|DOID:0110343																		owl:Class
MONDO:0002104	biolink:NamedThing	conversion disorder	Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.	mondoexuq1wtf	conversion hysteria or reaction|conversion hysterical neurosis|functional neurological disorder|hysterical neurosis, conversion type|functional movement disorder|FND											GARD:0006191|MESH:D003291|DOID:1768|ICD10:F44|ICD9:300.11														https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder				owl:Class
MONDO:0013612	biolink:NamedThing	Geleophysic dysplasia 2	Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.	mondoexuq1wtf	GPHYSD2|Geleophysic dysplasia type 2|GELEOPHYSIC dysplasia 2|Geleophysic dysplasia 2|geleophysic dysplasia caused by mutation in FBN1|FBN1 geleophysic dysplasia											DOID:0111726|UMLS:C3280054|OMIM:614185																		owl:Class
MONDO:0003894	biolink:NamedThing	mediastinal melanocytic neurilemmoma	A melanotic schwannoma that affects the mediastinum.	mondoexuq1wtf	melanocytic neurilemmoma of mediastinum|mediastinal melanocytic schwannoma|melanocytic neurilemmoma of the mediastinum|melanocytic schwannoma of the mediastinum|mediastinal melanotic schwannoma|melanocytic schwannoma of mediastinum											UMLS:C1334668|NCIT:C6635|DOID:6484																		owl:Class
MONDO:0013070	biolink:NamedThing	spermatogenic failure 7		mondoexuq1wtf	SPGF7|spermatogenic failure 7|Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure type 7											MESH:C567832|DOID:0070173|UMLS:C2751811|OMIM:612997																		owl:Class
MONDO:0020395	biolink:NamedThing	valvar pulmonary stenosis	A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).	mondoexuq1wtf												MedDRA:10037450|ICD10:Q22.1|Orphanet:99054|ICD9:746.02																		owl:Class
MONDO:0011205	biolink:NamedThing	medium chain 3-ketoacyl-Coa thiolase deficiency		mondoexuq1wtf	medium-chain 3-ketoacyl-coa thiolase deficiency|Mckat deficiency|medium chain 3-ketoacyl-Coa thiolase deficiency											UMLS:C1865781|GARD:0010329|MESH:C566566|OMIM:602199														https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency				owl:Class
MONDO:0021941	biolink:NamedThing	infection by Trypanosoma rhodesiense	An infection with Trypanosoma brucei rhodesiense.	mondoexuq1wtf	rhodesian trypanosomiasis|infection caused by trypanosoma rhodesiense|acute sleeping sickness|rhodesian sleeping sickness|infection by trypanosoma rhodesiense											ICD9:086.4|UMLS:C0041233|SCTID:42872003|NCIT:C35085																		owl:Class
MONDO:0011580	biolink:NamedThing	cerebellar ataxia and hypergonadotropic hypogonadism		mondoexuq1wtf	cerebellar ataxia and hypergonadotropic hypogonadism											OMIM:605672|UMLS:C1854064|MESH:C565308																		owl:Class
MONDO:0001072	biolink:NamedThing	mild pre-eclampsia	A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.	mondoexuq1wtf												ICD9:642.44|ICD9:642.40|COHD:314090|ICD9:642.42|SCTID:41114007|DOID:10590|ICD9:642.43|ICD9:642.41																		owl:Class
MONDO:0002950	biolink:NamedThing	skin clear cell basal cell carcinoma	A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.	mondoexuq1wtf	skin clear cell basal cell carcinoma|clear cell basal cell carcinoma											NCIT:C27536|UMLS:C1516599|DOID:4293																		owl:Class
MONDO:0006696	biolink:NamedThing	cervix erosion	Loss or destruction of the epithelial lining of the uterine cervix.	mondoexuq1wtf	erosion of cervix											SCTID:61253004|UMLS:C0007869|MedDRA:10015128|EFO:1000862|DOID:3456|MESH:D002579																		owl:Class
MONDO:0017826	biolink:NamedThing	null pituitary adenoma		mondoexuq1wtf												UMLS:CN203796|ICD10:D35.2|Orphanet:314790																		owl:Class
MONDO:0006516	biolink:NamedThing	sarcopenia	Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.	mondoexuq1wtf												MedDRA:10063024|ICD10:M62.84|MESH:D055948|UMLS:C0872084|EFO:1000653																		owl:Class
MONDO:0030880	biolink:NamedThing	mandibuloacral dysplasia progeroid syndrome		mondoexuq1wtf	MDPS											OMIM:619127																		owl:Class
MONDO:0009489	biolink:NamedThing	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	mondoexuq1wtf	palmoplantar keratoderma, Norrbotten recessive type|PPKNR|PPK, Gamborg-Nielsen type|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type											MESH:C565454|OMIM:244850|Orphanet:86923|ICD10:Q82.8|SCTID:717228004																		owl:Class
MONDO:0016332	biolink:NamedThing	hypertrophic cardiomyopathy due to intensive athletic training		mondoexuq1wtf												Orphanet:217601|UMLS:CN226904|ICD10:I42.2																		owl:Class
MONDO:0014696	biolink:NamedThing	cerebrooculofacioskeletal syndrome 3		mondoexuq1wtf	cerebrooculofacioskeletal syndrome 3|COFS3|cerebrooculofacioskeletal syndrome type 3											MESH:C565035|OMIM:616570|UMLS:C1851443																		owl:Class
MONDO:0011507	biolink:NamedThing	diabetes mellitus, congenital autoimmune		mondoexuq1wtf	diabetes mellitus, congenital autoimmune											OMIM:605026|MESH:C565730|UMLS:C1857958																		owl:Class
MONDO:0100425	biolink:NamedThing	acute myeloid leukemia, KRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)	mondoexuq1wtf	AML, c-K-ras Gene Mutation|AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KRAS-2 Gene Mutation|AML, KRAS2 Gene Mutation|AML, KRAS gene mutation|AML, KRAS Gene Mutation																													owl:Class
MONDO:0000659	biolink:NamedThing	delta-heavy chain disease	A heavy chain disease that results from an overproduction of delta antibody (IgD).	mondoexuq1wtf	delta chain disease|IgD heavy chain disease|delta heavy chain disease											DOID:0060129|SCTID:20224008|UMLS:C0272253|ICD9:203.80																		owl:Class
MONDO:0018125	biolink:NamedThing	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.	mondoexuq1wtf	focal epilepsy-intellectual disability-dysarthria-ataxia syndrome											Orphanet:352587|UMLS:CN204502|ICD10:Q04.8																		owl:Class
MONDO:0015995	biolink:NamedThing	melorheostosis with osteopoikilosis	Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.	mondoexuq1wtf	dystrophy osseous sclerosing mixed|MSBD syndrome|mixed sclerosing bone dystrophy											Orphanet:1879|UMLS:CN200621|UMLS:C2931505|GARD:0003800|ICD10:M85.8|GARD:0003690																		owl:Class
MONDO:0003956	biolink:NamedThing	Baastrup syndrome		mondoexuq1wtf	kissing spine|Baastrup syndrome|Baastrup's syndrome											ICD9:721.5|DOID:6643|COHD:75908|SCTID:82304009|ICD10:M48.20|UMLS:C0158248|ICD10:M48.2																		owl:Class
MONDO:0015407	biolink:NamedThing	cerebrofacial arteriovenous metameric syndrome type 3		mondoexuq1wtf	CAMS3											UMLS:C3838691|SCTID:703268008|UMLS:CN199502|Orphanet:141199|ICD10:Q28.2																		owl:Class
MONDO:0060659	biolink:NamedThing	neurodevelopmental disorder with poor language and loss of hand skills		mondoexuq1wtf	NDPLHS|neurodevelopmental disorder with poor language and loss of hand skills											OMIM:617903																		owl:Class
MONDO:0014887	biolink:NamedThing	bone marrow failure syndrome 3	Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.	mondoexuq1wtf	bone marrow failure syndrome type 3|BMFS3|bone marrow failure syndrome caused by mutation in DNAJC21|DNAJC21 bone marrow failure syndrome|bone marrow failure syndrome 3											UMLS:C4310744|OMIM:617052																		owl:Class
MONDO:0004224	biolink:NamedThing	chronic metabolic polyneuropathy		mondoexuq1wtf	chronic metabolic polyneuropathy											DOID:7441|NCIT:C35602|UMLS:C1333042																		owl:Class
MONDO:0013856	biolink:NamedThing	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes		mondoexuq1wtf	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes											OMIM:614684|UMLS:C3553465																		owl:Class
MONDO:0011992	biolink:NamedThing	hereditary spastic paraplegia 25	Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	mondoexuq1wtf	autosomal recessive spastic paraplegia type 25|autosomal recessive spastic paraplegia 25|autosomal recessive spastic paraplegia-disc herniation syndrome|hereditary spastic paraplegia type 25|spinal disc herniation with autosomal recessive spastic paraplegia|spastic paraplegia 25, autosomal recessive|Disc herniation with spastic paraplegia, autosomal recessive|spastic paraplegia 25|SPG25											MESH:C536861|DOID:0110776|GARD:0009582|UMLS:C2936860|ICD10:G11.4|UMLS:C4518003|OMIM:608220|SCTID:732933009|Orphanet:101005																		owl:Class
MONDO:0010479	biolink:NamedThing	Charcot-Marie-Tooth disease X-linked dominant 6	X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	mondoexuq1wtf	Charcot-Marie-Tooth disease, X-linked dominant, 6|X-linked Charcot-Marie-Tooth disease type 6|Charcot-Marie-Tooth disease X-linked dominant type 6|CMT6X|Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|CMTX6					Editor note: check CMT6X synonym, this implies it is a subtype of CMT6						UMLS:C3806702|Orphanet:352675|SCTID:763347000|ICD10:G60.0|GARD:0012445|OMIM:300905|DOID:0110207																		owl:Class
MONDO:0008570	biolink:NamedThing	thyrotoxic periodic paralysis, susceptibility to, 1	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.	mondoexuq1wtf	thyrotoxic periodic paralysis, susceptibility to, 1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in CACNA1S|thyrotoxic periodic paralysis, susceptibility to, type 1|TTPP1											OMIM:188580																		owl:Class
MONDO:0032893	biolink:NamedThing	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures		mondoexuq1wtf	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES|PAMDDFS											OMIM:618737																		owl:Class
MONDO:0030843	biolink:NamedThing	mismatch repair cancer syndrome 4		mondoexuq1wtf	mismatch repair cancer syndrome 4|MMRCS4											OMIM:619101																		owl:Class
MONDO:0012845	biolink:NamedThing	inflammatory bowel disease 19	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.	mondoexuq1wtf	inflammatory bowel disease (Crohn disease) 19|inflammatory bowel disease 19|IBD19|inflammatory bowel disease caused by mutation in IRGM|inflammatory bowel disease type 19|IRGM inflammatory bowel disease											DOID:0110890|OMIM:612278|MESH:C567372|UMLS:C2677079																		owl:Class
MONDO:0013492	biolink:NamedThing	alopecia-intellectual disability syndrome 3		mondoexuq1wtf	alopecia-mental retardation syndrome 3|APMR3|alopecia-intellectual disability syndrome 3											UMLS:C3151362|OMIM:613930																		owl:Class
MONDO:0006907	biolink:NamedThing	pilar sheath acanthoma	A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.	mondoexuq1wtf	Pilar sheath acanthoma|Infundibuloisthmicoma|acanthoma of Pilar sheath|acanthoma of the Pilar sheath											EFO:1001107|UMLS:C0346005|SCTID:254693008|DOID:4322|NCIT:C4468																		owl:Class
MONDO:0006629	biolink:NamedThing	osteoarthritis, hip	Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.	mondoexuq1wtf	hip osteoarthritis											NCIT:C34876|EFO:1000786|COHD:4079749|MESH:D015207																		owl:Class
MONDO:0017721	biolink:NamedThing	Sandhoff disease, infantile form		mondoexuq1wtf	Hexosaminidases A and B deficiency, infantile form|infantile GM2 gangliosidosis 0 variant											Orphanet:309155|UMLS:CN203617|ICD10:E75.0																		owl:Class
MONDO:0017601	biolink:NamedThing	diffuse large B-cell lymphoma with chronic inflammation	Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.	mondoexuq1wtf	DLBCL with chronic inflammation											ICD10:C83.3|Orphanet:300888																		owl:Class
MONDO:0030871	biolink:NamedThing	vertebral hypersegmentation and orofacial anomalies		mondoexuq1wtf	VHO											OMIM:619122																		owl:Class
MONDO:0014051	biolink:NamedThing	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.	mondoexuq1wtf	fatal infantile encephalocardiomyopathy caused by mutation in COX15|COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|CEMCOX2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2											DOID:0080358|UMLS:C3554534|OMIM:615119																		owl:Class
MONDO:0010070	biolink:NamedThing	brachyolmia type 1, Hobaek type		mondoexuq1wtf	brachyolmia, recessive type of Hobaek|brachyolmia type 1, Hobaek type|spondylodysplasia with Pure brachyolmia|BCYM1A											Orphanet:93301|OMIM:271530|UMLS:C1849055|MESH:C537099																		owl:Class
MONDO:0032921	biolink:NamedThing	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation		mondoexuq1wtf	NEDHRIT|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION											OMIM:618797																		owl:Class
MONDO:0017675	biolink:NamedThing	punctate palmoplantar keratoderma	A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.	mondoexuq1wtf	punctate palmoplantar hyperkeratosis|punctate keratosis palmoplantaris|punctate PPK											SCTID:402773000|Orphanet:307967|ICD10:Q82.8|DOID:0060361|UMLS:C4024851																		owl:Class
MONDO:0006820	biolink:NamedThing	kidney cortex necrosis	Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.	mondoexuq1wtf	renal cortical necrosis											MedDRA:10023414|COHD:40480627|MESH:D007673|ICD10:N17.1|DOID:2973|EFO:1001003|SCTID:444691002|ICD9:583.6																		owl:Class
MONDO:0015013	biolink:NamedThing	retinitis pigmentosa 77	Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.	mondoexuq1wtf	RP77|REEP6 retinitis pigmentosa|retinitis pigmentosa type 77|retinitis pigmentosa 77|retinitis pigmentosa caused by mutation in REEP6											OMIM:617304|ICD10CM:H35.5|UMLS:C4310626|DOID:0080350																		owl:Class
MONDO:0010191	biolink:NamedThing	von Willebrand disease 3	Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).	mondoexuq1wtf	von Willebrand disease type 3|VWD, type 3|von Willebrand's disease 3|von Willebrand disease type III|Von Willebrand disease, type 3|von Willebrand's disease type 3|VON WILLEBRAND disease, type 3|VWD type 3|VWD3											Orphanet:166096|DOID:0111054|ICD10:D68.0|SCTID:128108002|OMIM:277480|NCIT:C85213|MESH:D056729|UMLS:C1264041																		owl:Class
MONDO:0007371	biolink:NamedThing	cornea guttata with anterior polar cataracts		mondoexuq1wtf	cornea guttata with anterior polar cataracts|cornea guttata with anterior polar cataract|familial congenital cornea guttata with anterior polar cataracts (type)											OMIM:121390|MESH:C535471|GARD:0009507|UMLS:C1852558																		owl:Class
MONDO:0054836	biolink:NamedThing	parkinsonism-dystonia, infantile, 2		mondoexuq1wtf	PKDYS2|Parkinsonism-dystonia, infantile, 2											OMIM:618049|UMLS:CN248785																		owl:Class
MONDO:0015388	biolink:NamedThing	polyrrhinia	Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	mondoexuq1wtf	Double nose|Polyrhinia											Orphanet:141091|ICD10:Q30.8|SCTID:716279002																		owl:Class
MONDO:0022611	biolink:NamedThing	Brunoni syndrome		mondoexuq1wtf	mesomelia, radial hypoplasia bifid thumb unusual facies|mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia											UMLS:C2931486|MESH:C537408																		owl:Class
MONDO:0011301	biolink:NamedThing	pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.	mondoexuq1wtf	Php 1B|pseudohypoparathyroidism type IB|PHP1B|pseudohypoparathyroidism, type IB|pseudohypoparathyroidism, type 1B											Orphanet:94089|ICD10:E20.1|OMIM:603233|UMLS:C2932715|GARD:0010680|MESH:C548075|DOID:0080222														https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b				owl:Class
MONDO:0003973	biolink:NamedThing	tubular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.	mondoexuq1wtf	testicular seminoma, tubular variant											NCIT:C40959|UMLS:C1515294|DOID:6706																		owl:Class
MONDO:0007792	biolink:NamedThing	familial hypocalciuric hypercalcemia 2	A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	mondoexuq1wtf	hypocalciuric hypercalcemia type II|HHC2|hypercalcemia, familial benign, type 2|familial benign hypercalcemia, type 2|hypercalcemia, familial benign type 2|FBH2|hypocalciuric hypercalcemia, familial, type II|familial hypocalciuric hypercalcemia type 2|FHH type 2|hypocalciuric hypercalcemia, familial, type 2											OMIM:145981|ICD10:E83.5|MESH:C537146|Orphanet:101049|GARD:0009758|UMLS:C1840347|DOID:0060701																		owl:Class
MONDO:0017381	biolink:NamedThing	congenital herpes simplex virus infection	Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.	mondoexuq1wtf	neonatal herpes simplex virus infection|Simplexvirus caused infectious embryofetopathy|neonatal HSV infection|congenital herpes simplex infection|congenital herpes simplex|Simplexvirus infectious embryofetopathy|antenatal herpes simplex virus infection|mother-to-child transmission of herpes simplex virus infection|neonatal herpes simplex										MONDO:0022267	GARD:0007173|GARD:0001486|ICD9:771.2|UMLS:C0276225|SCTID:91576008|ICD10:P35.2|Orphanet:293														https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex				owl:Class
MONDO:0005469	biolink:NamedThing	orthostatic hypotension	Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.	mondoexuq1wtf	orthostatic hypotension|orthostatic hypotension (disease)		orthostatic hypotension (disease)									SCTID:28651003|EFO:0005252|HP:0001278|ICD9:458.0																		owl:Class
MONDO:0054581	biolink:NamedThing	Townes-Brocks syndrome 1		mondoexuq1wtf	rear syndrome|renal-ear-anal-radial syndrome|Townes-Brocks-branchiootorenal-like syndrome|TBS1|anus, imperforate, with hand, Foot, and Ear anomalies|Townes-Brocks syndrome 1|deafness, sensorineural, with imperforate anus and thumb anomalies											OMIM:107480																		owl:Class
MONDO:0017510	biolink:NamedThing	adactyly of foot, bilateral		mondoexuq1wtf	congenital absence of toes, bilateral											ICD10:Q72.8|Orphanet:295118																		owl:Class
MONDO:0019759	biolink:NamedThing	epispadias	Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.	mondoexuq1wtf	epispadias|epispadias (disease)		epispadias (disease)									UMLS:C0014588|MESH:D004842|NCIT:C98923|UMLS:CN227686|HP:0000039|SCTID:406476007|Orphanet:93928|ICD10:Q64.0|MedDRA:10015088|ICD9:752.62																		owl:Class
MONDO:0032768	biolink:NamedThing	developmental and epileptic encephalopathy, 76		mondoexuq1wtf	epileptic encephalopathy, early infantile, 76|Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|DEE76|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76|EIEE76											OMIM:618468																		owl:Class
MONDO:0033544	biolink:NamedThing	Tolchin-Le Caignec syndrome		mondoexuq1wtf	intellectual developmental disorder With behavioral abnormalities and variable bone defects|TOLCHIN-LE CAIGNEC SYNDROME|TOLCAS											OMIM:618971																		owl:Class
MONDO:0030027	biolink:NamedThing	tremor, hereditary essential, 6		mondoexuq1wtf	ETM6|TREMOR, HEREDITARY ESSENTIAL, 6|tremor, hereditary essential, 6											OMIM:618866																		owl:Class
MONDO:0022323	biolink:NamedThing	2-hydroxyethyl methacrylate sensitization		mondoexuq1wtf	2-HEMA sensitization|sensitization to 2-hydroxyethyl methacrylate											UMLS:C2930873|MESH:C535305|GARD:0008635														https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization				owl:Class
MONDO:0008319	biolink:NamedThing	protoporphyria, erythropoietic, 1	Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.	mondoexuq1wtf	EPP1|protoporphyria, erythropoietic|protoporphyria, erythropoietic, 1|ferrochelatase deficiency|erythropoietic protoporphyria|heme synthetase deficiency|Erythrohepatic protoporphyria|EPP											GARD:0004527|OMIM:177000|NCIT:C84698																		owl:Class
MONDO:0030852	biolink:NamedThing	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities		mondoexuq1wtf	NEDFASB											OMIM:619103																		owl:Class
MONDO:0007228	biolink:NamedThing	brachymesomelia-renal syndrome		mondoexuq1wtf	brachymesomelia renal syndrome|brachymesomelia-renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities											MESH:C537096|GARD:0000988|OMIM:113470|UMLS:C1862084																		owl:Class
MONDO:0007459	biolink:NamedThing	dilution, pigmentary		mondoexuq1wtf	Albinoidism, oculocutaneous, autosomal dominant|hypomelanotic disorder|albinism, partial|dilution, pigmentary|hypopigmentation											OMIM:126070|GARD:0006731|UMLS:C1876214|SCTID:23006000																		owl:Class
MONDO:0003548	biolink:NamedThing	adenosquamous breast carcinoma	An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.	mondoexuq1wtf	metaplastic adenosquamous carcinoma|adenosquamous breast carcinoma|breast adenosquamous carcinoma					Editor note: check ONCOTREE mapping						ONCOTREE:MASC|UMLS:C1510796|NCIT:C40361|DOID:5623																		owl:Class
MONDO:0017172	biolink:NamedThing	mucopolysaccharidosis type 6, slowly progressing		mondoexuq1wtf	MPS6, slowly progressing|mucopolysaccharidosis type VI, slowly progressing|arylsulfatase B deficiency, slowly progressing|MPSVI, slowly progressing											Orphanet:276223|ICD10:E76.2|UMLS:CN202601																		owl:Class
MONDO:0030941	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 7		mondoexuq1wtf	EKVP7|erythrokeratodermia variabilis et progressiva 7											OMIM:619209																		owl:Class
MONDO:0018603	biolink:NamedThing	interstitial lung disease due to SP-C deficiency		mondoexuq1wtf	interstitial lung disease due to surfactant protein C deficiency											Orphanet:440392|UMLS:CN237633|ICD10:J84.8																		owl:Class
MONDO:0004212	biolink:NamedThing	vulvar keratoacanthoma-like carcinoma	A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.	mondoexuq1wtf	vulvar squamous cell carcinoma, keratoacanthoma type											NCIT:C40288|DOID:7408|UMLS:C1520086																		owl:Class
MONDO:0001803	biolink:NamedThing	myringitis bullosa hemorrhagica	A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.	mondoexuq1wtf	bullous myringitis											ICD9:384.01|DOID:13791|ICD10:H73.01|COHD:375291|UMLS:C0155461|SCTID:33528003																		owl:Class
MONDO:0009646	biolink:NamedThing	Monosomy 7 myelodysplasia and leukemia syndrome 1		mondoexuq1wtf	M7MLS1|myelodysplasia and leukemia syndrome with monosomy 7|monosomy 7 of bone marrow|chromosome 7Q deletion											OMIM:252270|UMLS:C1854978|MESH:C565370																		owl:Class
CL:0000458	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0032753	biolink:NamedThing	spastic ataxia 9, autosomal recessive		mondoexuq1wtf	SPAX9|SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE											OMIM:618438																		owl:Class
MONDO:0014001	biolink:NamedThing	Usher syndrome type 1K	An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.	mondoexuq1wtf	USH1K|Usher syndrome type IK|USHER syndrome, type IK											OMIM:614990|DOID:0110837|ICD10:H35.5|UMLS:C3539124																		owl:Class
MONDO:0023595	biolink:NamedThing	congenital myotonic dystrophy	Myotonic dystrophy that is present at birth.	mondoexuq1wtf	MYOTONIC dystrophy CONGEN|Congenital Myotonic dystrophy|Congenital myotonic dystrophy|dystrophies, Congenital Myotonic|dystrophy, Congenital Myotonic|Myotonic dystrophies, Congenital|Myotonic dystrophy, Congenital|congenital myotonic dystrophy|Congenital Myotonic dystrophies											NCIT:C123308|UMLS:C0410226|GARD:0009134																		owl:Class
MONDO:0012668	biolink:NamedThing	Tented eyebrows		mondoexuq1wtf	Tented eyebrows											OMIM:611426																		owl:Class
MONDO:0001206	biolink:NamedThing	aqueous misdirection		mondoexuq1wtf												ICD10:H40.83|DOID:11149|ICD9:365.83																		owl:Class
MONDO:0004261	biolink:NamedThing	periductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.	mondoexuq1wtf	periductal breast myoepitheliosis											NCIT:C40388|UMLS:C1518974|DOID:7520																		owl:Class
MONDO:0022810	biolink:NamedThing	Combarros Calleja Leno syndrome		mondoexuq1wtf												GARD:0001449														https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome				owl:Class
MONDO:0004894	biolink:NamedThing	cyclotropia		mondoexuq1wtf												ICD10:H50.41|ICD9:378.33|SCTID:70486007|COHD:372647|UMLS:C0152209|DOID:9838																		owl:Class
MONDO:0001885	biolink:NamedThing	lateral cystocele		mondoexuq1wtf												DOID:14130|COHD:40480943|SCTID:441891001|ICD10:N81.12|UMLS:C2711750|ICD9:618.02																		owl:Class
MONDO:0011387	biolink:NamedThing	psoriasis 4, susceptibility to		mondoexuq1wtf	psoriasis 4, susceptibility to|PSORS4											DOID:0111280|OMIM:603935																		owl:Class
MONDO:0005126	biolink:NamedThing	tuberculoid leprosy	A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.	mondoexuq1wtf	tuberculoid leprosy [type T]|smooth leprosy|type T leprosy											ICD10:A30.1|UMLS:C0023351|SCTID:70143003|COHD:136898|EFO:0001056|ICD9:030.1|DOID:1025|MESH:D015441																		owl:Class
MONDO:0022899	biolink:NamedThing	crawfurd syndrome		mondoexuq1wtf												GARD:0001607														https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome				owl:Class
MONDO:0600024	biolink:NamedThing	familial idiopathic inflammatory myopathy	An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.	mondoexuq1wtf	familial idiopathic myositis							http://orcid.org/0000-0002-5460-8025				OMIM:160750|MESH:C000598744																		owl:Class
MONDO:0010741	biolink:NamedThing	tooth agenesis, selective, X-linked, 1	Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.	mondoexuq1wtf	tooth agenesis, selective, X-linked, type 1|tooth agenesis caused by mutation in EDA|hypodontia/oligodontia, X-linked, 1|EDA tooth agenesis|STHAGX1|tooth agenesis, selective, X-linked, 1											MESH:C567060|UMLS:C1970757|OMIM:313500																		owl:Class
MONDO:0054861	biolink:NamedThing	intellectual disability, autosomal recessive 63		mondoexuq1wtf	MRT63|intellectual disability, autosomal recessive 63|mental retardation, autosomal recessive 63											OMIM:618095																		owl:Class
MONDO:0018685	biolink:NamedThing	incessant infant ventricular tachycardia	Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.	mondoexuq1wtf												Orphanet:45453|ICD10:I47.2|UMLS:C0340487|SCTID:233908008																		owl:Class
MONDO:0000901	biolink:NamedThing	relapsed/refractory diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.	mondoexuq1wtf												DOID:0080192																		owl:Class
MONDO:0010114	biolink:NamedThing	thanatophoric dysplasia, Glasgow variant		mondoexuq1wtf	thanatophoric dysplasia, Glasgow variant|neonatally lethal short-limb skeletal dysplasia, Glasgow type											OMIM:273680|UMLS:C1848865|MESH:C536506|Orphanet:93275																		owl:Class
MONDO:0600005	biolink:NamedThing	venom allergy	An allergic disease involving venom.	mondoexuq1wtf	IgE-mediated venom hypersensitivity|venom hypersensitivity							http://orcid.org/0000-0002-5460-8025																						owl:Class
MONDO:0017532	biolink:NamedThing	postaxial polydactyly type A, bilateral		mondoexuq1wtf												Orphanet:295165|ICD10:Q69.0|UMLS:CN203263																		owl:Class
MONDO:0007439	biolink:NamedThing	deoxyribose-5-phosphate aldolase deficiency		mondoexuq1wtf	deoxyribose-5-phosphate aldolase deficiency											OMIM:125460|MESH:C565112|UMLS:C1852200																		owl:Class
MONDO:0011091	biolink:NamedThing	Charcot-Marie-Tooth disease type 2D	Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	mondoexuq1wtf	CMT 2D|Charcot-Marie-Tooth neuropathy type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|Charcot-Marie-Tooth disease, neuronal, type 2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS|Charcot-Marie-Tooth neuropathy, type 2D|Charcot Marie Tooth disease type 2D|GARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease neuronal type 2D|CMT2D											NCIT:C122659|Orphanet:99938|SCTID:717011006|MESH:C537993|ICD10:G60.0|UMLS:C1832274|OMIM:601472|UMLS:C4274109|GARD:0001251|DOID:0110164														https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d				owl:Class
MONDO:0007547	biolink:NamedThing	epidermoid cysts	The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.	mondoexuq1wtf	Follicular infundibular cyst|inclusion cyst|horn cyst|infundibular cyst|squamous cyst|epidermal inclusion cyst|epidermoid cysts|keratinous cyst|Epidermal cyst|epithelial cyst|keratin cyst|keratinizing cyst|epidermoid cyst											NCIT:C3134|SCTID:419893006|OMIM:131600|EFO:1000243																		owl:Class
MONDO:0003388	biolink:NamedThing	ampulla of vater clear cell adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.	mondoexuq1wtf	ampulla of Vater clear cell adenocarcinoma|hepatopancreatic ampulla clear cell adenocarcinoma											DOID:5308|NCIT:C27414|UMLS:C1332246																		owl:Class
MONDO:0010145	biolink:NamedThing	tibia, absence of, with congenital deafness		mondoexuq1wtf	tibia, absence of, with congenital deafness											UMLS:C1848758|OMIM:275230|MESH:C564764																		owl:Class
MONDO:0030846	biolink:NamedThing	spermatogenic failure 48		mondoexuq1wtf	SPGF48|spermatogenic failure 48											OMIM:619108																		owl:Class
MONDO:0032732	biolink:NamedThing	deafness, autosomal recessive 113		mondoexuq1wtf	DFNB113|DEAFNESS, AUTOSOMAL RECESSIVE 113											OMIM:618410|DOID:0111636																		owl:Class
MONDO:0015690	biolink:NamedThing	myeloid neoplasm associated with PDGFRB rearrangement	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.	mondoexuq1wtf	myeloid/lymphoid neoplasm associated with PDGFRB rearrangement											SCTID:724642009|ICD10:D47.1|Orphanet:168950																		owl:Class
MONDO:0012754	biolink:NamedThing	nanophthalmos 3		mondoexuq1wtf	Nanophthalmia 3|nanophthalmos 3|NNO3											MESH:C567498|UMLS:C2678467|OMIM:611897																		owl:Class
MONDO:0010677	biolink:NamedThing	muscular dystrophy, Mabry type		mondoexuq1wtf	muscular dystrophy, Mabry type											MESH:C564096|OMIM:310000|UMLS:C1839670																		owl:Class
MONDO:0005487	biolink:NamedThing	schizoaffective disorder	A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.	mondoexuq1wtf												COHD:4286201|NCIT:C94378|ICD10:F25|ICD9:295.7|EFO:0005411|ICD10:F25.9|DOID:5418																		owl:Class
MONDO:0002045	biolink:NamedThing	communicating hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.	mondoexuq1wtf	non-obstructive hydrocephalus											ICD10:G91.0|SCTID:271569006|ICD9:331.3|NCIT:C34501|COHD:440700|DOID:1573|UMLS:C0009451																		owl:Class
MONDO:0006809	biolink:NamedThing	intracranial embolism	Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.	mondoexuq1wtf	cerebral embolism with cerebral infarction|cerebral embolism											MESH:D020766|COHD:375557|ICD9:434.1|ICD9:434.10|EFO:1000991|DOID:4372|SCTID:75543006|ICD10:I66																		owl:Class
MONDO:0034976	biolink:NamedThing	iatrogenic Creutzfeldt-Jakob disease		mondoexuq1wtf												Orphanet:576379																		owl:Class
MONDO:0011990	biolink:NamedThing	seizures, benign familial neonatal, 3		mondoexuq1wtf	BFNS3|seizures, benign familial neonatal, 3|convulsions, benign familial neonatal, 3											OMIM:608217|UMLS:C1842382|MESH:C564274																		owl:Class
MONDO:0012373	biolink:NamedThing	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features		mondoexuq1wtf	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features											MESH:C536182|UMLS:C1864966|OMIM:609944|GARD:0009939														https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features				owl:Class
MONDO:0042977	biolink:NamedThing	trichoepithelioma, multiple familial, 1		mondoexuq1wtf	trichoepithelioma, multiple familial, 1|Brooke-Fordyce Trichoepitheliomas|epithelioma adenoides cysticum of Brooke|epithelioma, hereditary multiple benign cystic|multiple familial trichoepithelioma 1|trichoepithelioma multiple familial 1|MFT1											OMIM:601606|GARD:0005262																		owl:Class
MONDO:0001234	biolink:NamedThing	adhesive otitis media	An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.	mondoexuq1wtf	adhesive middle ear disease|fibrotic adhesive otitis media|adhesive otitis media|chronic adhesive otitis media											ICD9:385.10|UMLS:C0155478|ICD10:H74.1|COHD:375820|DOID:11235|ICD9:385.1|SCTID:7699004																		owl:Class
MONDO:0012920	biolink:NamedThing	type 1 diabetes mellitus 21	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.	mondoexuq1wtf	IDDM21|insulin-dependent diabetes mellitus 21|diabetes mellitus, insulin-dependent, 21											DOID:0110758|UMLS:C2675865|MESH:C567285|OMIM:612521|ICD10:E10																		owl:Class
MONDO:0010467	biolink:NamedThing	Xq27.3q28 duplication syndrome	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	mondoexuq1wtf	Xq27.3-q28 microduplication syndrome|trisomy Xq27.3q28|dup(X)(q27.3q28)|trisomy Xq27.3-q28|chromosome Xq27.3-q28 DUPLICATION syndrome											ICD10:Q99.8|OMIM:300869|UMLS:C3275521|Orphanet:261483																		owl:Class
MONDO:0043129	biolink:NamedThing	merlob grunebaum reisner syndrome		mondoexuq1wtf	familial opposable triphalangeal thumbs associated with duplication of the big toes											GARD:0003545|UMLS:C2931499|MESH:C537461																		owl:Class
MONDO:0033620	biolink:NamedThing	myofibrillar myopathy 10		mondoexuq1wtf	MFM10											OMIM:619040																		owl:Class
MONDO:0004022	biolink:NamedThing	parasagittal meningioma	A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.	mondoexuq1wtf												NCIT:C4960|UMLS:C0751304|DOID:6869																		owl:Class
MONDO:0008465	biolink:NamedThing	Patterson-Stevenson-Fontaine syndrome	Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	mondoexuq1wtf	split foot deformity-mandibulofacial dysostosis syndrome|split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Patterson Stevenson Fontaine syndrome|Patterson-Stevenson-Fontaine syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome											OMIM:183700|Orphanet:2439|ICD10:Q87.0|SCTID:724069009|UMLS:C1866741|GARD:0004260														https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome				owl:Class
MONDO:0032765	biolink:NamedThing	bleeding disorder, platelet-type, 22		mondoexuq1wtf	BLEEDING DISORDER, PLATELET-TYPE, 22|BDPLT22											OMIM:618462																		owl:Class
MONDO:0020547	biolink:NamedThing	chronic graft versus host disease	Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.	mondoexuq1wtf	graft versus host disease, chronic|GVHD, chronic|chronic GVHD											SCTID:402356004|COHD:434314|UMLS:C0867389|NCIT:C4981|ICD10:D89.811|Orphanet:99921|GARD:0010964|ICD9:279.52|ICD10:T86.0|MedDRA:10066261														https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease				owl:Class
MONDO:0012262	biolink:NamedThing	fibrosis of extraocular muscles, congenital, 3c		mondoexuq1wtf	fibrosis of extraocular muscles, congenital, 3C|Feom4 locus|CFEOM3C											OMIM:609384|MESH:C567666|UMLS:C2750404																		owl:Class
MONDO:0020428	biolink:NamedThing	congenital Gerbode defect		mondoexuq1wtf	left ventricular-to-right atrial communication|Gerbode defect											Orphanet:99095|ICD10:Q21.0|SCTID:204312002																		owl:Class
MONDO:0006662	biolink:NamedThing	aseptic meningitis	Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.	mondoexuq1wtf	acute aseptic meningitis|aseptic meningitis											UMLS:C0025290|MESH:D008582|SCTID:301770000|ICD10:G03.0|EFO:1000823|DOID:12157|NCIT:C118299|MedDRA:10003458																		owl:Class
MONDO:0012814	biolink:NamedThing	diastasis recti and weakness of the linea alba		mondoexuq1wtf	diastasis recti and weakness of the linea alba											MESH:C567402|OMIM:612198|UMLS:C2677303																		owl:Class
MONDO:0020396	biolink:NamedThing	anomaly of the tricuspid valve chordae	Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.	mondoexuq1wtf												Orphanet:99055|ICD10:Q22.8																		owl:Class
MONDO:0004146	biolink:NamedThing	transitional meningioma	A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.	mondoexuq1wtf	transitional meningioma (morphologic abnormality)|transitional (mixed) meningioma|mixed meningioma											NCIT:C4333|UMLS:C0334611|ICDO:9537/0|EFO:1000602|DOID:7213																		owl:Class
MONDO:0021824	biolink:NamedThing	adult progressive spinal muscular atrophy, Aran Duchenne type	A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.	mondoexuq1wtf	adult progressive spinal muscular atrophy Aran Duchenne type|Aran Duchenne spinal muscular atrophy|adult SMA Aran Duchenne type					Editor note: consider merging with parent						GARD:0009132														https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type				owl:Class
MONDO:0032881	biolink:NamedThing	premature ovarian failure 16		mondoexuq1wtf	PREMATURE OVARIAN FAILURE 16|POF16											OMIM:618723																		owl:Class
MONDO:0022894	biolink:NamedThing	craniosynostosis autosomal dominant		mondoexuq1wtf												GARD:0001588														https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant				owl:Class
MONDO:0005117	biolink:NamedThing	Aeromonas hydrophila infectious disease	Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.	mondoexuq1wtf	Aeromonas hydrophila caused disease or disorder|Aeromonas hydrophila disease or disorder											EFO:0000776																		owl:Class
MONDO:0043094	biolink:NamedThing	ichthyosis, follicular		mondoexuq1wtf	follicular ichthyosis											SCTID:238627002|GARD:0002355																		owl:Class
MONDO:0044317	biolink:NamedThing	premature ovarian failure 13		mondoexuq1wtf	POF13|premature ovarian failure 13											OMIM:617442|UMLS:C4479510																		owl:Class
MONDO:0016595	biolink:NamedThing	inhalational anthrax	A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.	mondoexuq1wtf	respiratory anthrax|woolsorters' disease|inhalation anthrax disease|inhalation anthrax|pulmonary anthrax|respiratory anthrax disease|wool-sorters' disease											UMLS:C0155866|ICD10:A22.1|MESH:C571912|MedDRA:10035667|Orphanet:247257|ICD9:022.1|SCTID:11389007|DOID:0050160																		owl:Class
MONDO:0008333	biolink:NamedThing	pseudoxanthoma elasticum, forme fruste	An autosomal dominant form of PXE.	mondoexuq1wtf	pseudoxanthoma elasticum, forme fruste|pseudoxanthoma elasticum, heterozygous											OMIM:177850|GARD:0010104														https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste				owl:Class
MONDO:0009598	biolink:NamedThing	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome		mondoexuq1wtf	metaphyseal chondrodysplasia with retinitis pigmentosa|brachydactyly-short stature-retinitis pigmentosa syndrome|retinitis pigmentosa with or without skeletal anomalies|RPSKA											OMIM:250410|Orphanet:166035|MESH:C565398|UMLS:C1855188																		owl:Class
MONDO:0015794	biolink:NamedThing	antenatal multiminicore disease with arthrogryposis multiplex congenita		mondoexuq1wtf	multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis											GARD:0009129|UMLS:C1843691|ICD10:G71.2|Orphanet:178148																		owl:Class
MONDO:0018932	biolink:NamedThing	cirrhotic cardiomyopathy	Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.	mondoexuq1wtf												UMLS:C4511053|SCTID:725416005|Orphanet:57777|ICD10:I42.8																		owl:Class
MONDO:0004910	biolink:NamedThing	mitral valve prolapse	A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.	mondoexuq1wtf	mitral valve prolapse syndrome|mitral valve prolapse (disease)|myxomatous mitral valve prolapse|floppy mitral valve|systolic click-murmur syndrome|barlow's syndrome|valve, prolapse Of mitral|mitral leaflet syndrome|mitral valve prolapse, myxomatous|mitral valve prolapse|prolapse, mitral valve		mitral valve prolapse (disease)									HP:0001634|NCIT:C50655|COHD:4252872|SCTID:409712001|DOID:988																		owl:Class
MONDO:0013636	biolink:NamedThing	primary biliary cholangitis 4		mondoexuq1wtf	PBC4|biliary cirrhosis, primary, 4											OMIM:614220|UMLS:C3280201																		owl:Class
MONDO:0100353	biolink:NamedThing	HHV-7 infectious disease	A disease caused by infection with herpesvirus-7.	mondoexuq1wtf	HHV-7 infection|herpesvirus-7 infectious disease							http://orcid.org/0000-0001-5208-3432																						owl:Class
MONDO:0022519	biolink:NamedThing	autoimmune myocarditis	Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.	mondoexuq1wtf												GARD:0009519																		owl:Class
MONDO:0018462	biolink:NamedThing	Angelman syndrome due to imprinting defect in 15q11-q13		mondoexuq1wtf												UMLS:CN237442|ICD10:Q93.5|Orphanet:411515																		owl:Class
MONDO:0016031	biolink:NamedThing	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome		mondoexuq1wtf	faces syndrome|Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies											ICD10:Q87.0|Orphanet:1969|MESH:C536384|UMLS:C2931183|GARD:0002221																		owl:Class
MONDO:0000459	biolink:NamedThing	mesenchymal glioblastoma	A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.	mondoexuq1wtf	glioblastoma mesenchymal subtype|mesenchymal glioblastoma											UMLS:C3829122|DOID:0050805|NCIT:C111695																		owl:Class
MONDO:0043300	biolink:NamedThing	actinic cheilitis		mondoexuq1wtf	actinic cheilosis|actinic cheilitis|solar keratosis of lip											SCTID:46795000|UMLS:C0267026|GARD:0009619|MESH:C535669																		owl:Class
MONDO:0032597	biolink:NamedThing	myasthenic syndrome, congenital, 24, presynaptic		mondoexuq1wtf	CMS24|MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC											OMIM:618198																		owl:Class
MONDO:0022623	biolink:NamedThing	CDK4 linked melanoma		mondoexuq1wtf												GARD:0001175														https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma				owl:Class
MONDO:0012296	biolink:NamedThing	lipomyelomeningocele	Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.	mondoexuq1wtf	familial lipomyelomeningocele|lipomyelomeningocele											GARD:0010053|MESH:C537030|SCTID:104431000119107|ICD9:214.8|ICD10:Q05.9|OMIM:609537|UMLS:C1836022|Orphanet:268835														https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele				owl:Class
MONDO:0032801	biolink:NamedThing	erythrokeratodermia variabilis et progressiva 6		mondoexuq1wtf	EKVP6|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6											OMIM:618531																		owl:Class
MONDO:0044138	biolink:NamedThing	hyalitis	Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.	mondoexuq1wtf	Vitritis|hyaloiditis|hyalitis|Vitreitis|vitritis											EFO:1001907|NCIT:C50587|UMLS:C0235812|SCTID:95802009																		owl:Class
MONDO:0024381	biolink:NamedThing	circadian rhythm sleep disorder, jet lag type	A circadian sleep disorder that results from travelling across time zones.	mondoexuq1wtf	jet lag											UMLS:C0231311|ICD10:G47.25																		owl:Class
MONDO:0006323	biolink:NamedThing	non-seminomatous lesion	A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.	mondoexuq1wtf												EFO:1000401																		owl:Class
MONDO:0025699	biolink:NamedThing	Coffin-Siris syndrome 12		mondoexuq1wtf	CSS12											OMIM:619325																		owl:Class
MONDO:0018161	biolink:NamedThing	non-hereditary retinoblastoma		mondoexuq1wtf												ICD10:C69.2|UMLS:CN204600|Orphanet:357034																		owl:Class
MONDO:0011808	biolink:NamedThing	cataract 27	A cataract that has material basis in mutation in the region 2p12.	mondoexuq1wtf	Ccnp|cataract 27|cataract type 27|cataract 27, nuclear progressive|cataract 27 nuclear progressive|CTRCT27											DOID:0110233|MESH:C564596|ICD10:Q12.0|OMIM:607304|UMLS:C1846520																		owl:Class
MONDO:0044325	biolink:NamedThing	Fanconi anemia, complementation group W		mondoexuq1wtf	FANCW|Fanconi anemia, complementation group W											OMIM:617784|UMLS:CN653907																		owl:Class
MONDO:0032846	biolink:NamedThing	osteogenesis imperfecta, type 20		mondoexuq1wtf	OI20|OSTEOGENESIS IMPERFECTA, TYPE XX											OMIM:618644																		owl:Class
MONDO:0006365	biolink:NamedThing	Peutz-Jeghers polyp	A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002	mondoexuq1wtf	Peutz Jeghers polyp|Peutz-Jeghers polyp											NCIT:C4733|EFO:1000470																		owl:Class
MONDO:0012131	biolink:NamedThing	metaphyseal undermodeling, spondylar dysplasia, and overgrowth		mondoexuq1wtf	overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome|metaphyseal undermodeling, spondylar dysplasia, and overgrowth											MESH:C537355|Orphanet:498485|UMLS:C1837316|GARD:0010066|OMIM:608811														https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth				owl:Class
MONDO:0013534	biolink:NamedThing	apolipoprotein c-III deficiency		mondoexuq1wtf	apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2											MESH:C566270|OMIM:614028|DOID:0111370|UMLS:C3151467																		owl:Class
MONDO:0004402	biolink:NamedThing	testicular yolk sac tumor, glandular-alveolar pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.	mondoexuq1wtf	testicular yolk sac tumor, glandular-alveolar pattern|glandular-alveolar pattern testicular yolk sac tumor											NCIT:C39926|DOID:7930|UMLS:C1515305																		owl:Class
MONDO:0012047	biolink:NamedThing	alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia		mondoexuq1wtf	alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia											MESH:C563920|UMLS:C1837946|OMIM:608509																		owl:Class
MONDO:0032878	biolink:NamedThing	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia		mondoexuq1wtf	NEDBASH|NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA											OMIM:618718																		owl:Class
MONDO:0012158	biolink:NamedThing	keratoconus 2		mondoexuq1wtf	KTCN2|keratoconus 2											OMIM:608932|UMLS:C1837090|MESH:C563827																		owl:Class
MONDO:0017850	biolink:NamedThing	sirenomelia	Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.	mondoexuq1wtf	Fused legs and feet|symmelia|mermaid syndrome|Sirenomelus|sirenomelia sequence|mermaid malformation											Orphanet:3169|UMLS:C0037205|NCIT:C118455|MedDRA:10049216|ICD10:Q87.2|SCTID:67254002|GARD:0007652																		owl:Class
MONDO:0003280	biolink:NamedThing	swayback	Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)	mondoexuq1wtf	swayback of sheep											SCTID:61960001|DOID:5112|MESH:D013540																		owl:Class
MONDO:0006666	biolink:NamedThing	atrophy of thyroid	Tissue degeneration and diminished size of the thyroid gland.	mondoexuq1wtf	thyroid gland atrophy|thyroid atrophy											SCTID:190309006|UMLS:C2981141|ICD9:246.8|NCIT:C26942|ICD10:E03.4|EFO:1000827|MedDRA:10043693																		owl:Class
MONDO:0012831	biolink:NamedThing	inflammatory bowel disease 13	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.	mondoexuq1wtf	ABCB1 inflammatory bowel disease|inflammatory bowel disease type 13|inflammatory bowel disease caused by mutation in ABCB1|inflammatory bowel disease 13|IBD13											OMIM:612244|UMLS:C2677101|MESH:C567384|DOID:0110893																		owl:Class
MONDO:0022820	biolink:NamedThing	congenital articular rigidity		mondoexuq1wtf												GARD:0001473														https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity				owl:Class
MONDO:0001510	biolink:NamedThing	lateral displacement of eye		mondoexuq1wtf	lateral displacement of globe											DOID:12360|SCTID:48747004|ICD10:H05.21|ICD9:376.36|UMLS:C0155272																		owl:Class
MONDO:0010893	biolink:NamedThing	malignant hyperthermia, susceptibility to, 4		mondoexuq1wtf	malignant hyperthermia susceptibility type 4|MHS4|malignant hyperthermia, susceptibility to, 4|malignant hyperthermia, susceptibility to, type 4|malignant hyperpyrexia susceptibility type 4|Mhs4											OMIM:600467|MESH:C535697|GARD:0003366														https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4				owl:Class
MONDO:0006436	biolink:NamedThing	submandibular gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	mondoexuq1wtf	adenoid cystic carcinoma of the submandibular gland|submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of submandibular gland											SCTID:423189008|EFO:1000555|NCIT:C5935|UMLS:C1336522																		owl:Class
MONDO:0008356	biolink:NamedThing	radial heads, posterior dislocation of		mondoexuq1wtf	radial heads, posterior dislocation of											UMLS:C1867398|MESH:C566728|OMIM:179200																		owl:Class
MONDO:0018610	biolink:NamedThing	early-onset posterior subcapsular cataract		mondoexuq1wtf												Orphanet:441447|UMLS:CN237646|ICD10:H26.0																		owl:Class
MONDO:0060733	biolink:NamedThing	humerofemoral hypoplasia with radiotibial ray deficiency		mondoexuq1wtf	Hfhrtrd|HHRRD|humerofemoral hypoplasia with radiotibial ray deficiency											UMLS:CN248526|OMIM:618022																		owl:Class
MONDO:0019733	biolink:NamedThing	AFib amyloidosis		mondoexuq1wtf	hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|familial amyloid nephropathy due to fibrinogen A alpha-chain variant|fibrinogen A alpha-chain amyloidosis|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant											ICD10:E85.0|UMLS:CN206640|Orphanet:93562																		owl:Class
MONDO:0009470	biolink:NamedThing	Baraitser-Winter syndrome 1	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.	mondoexuq1wtf	pachygyria, intellectual disability, epilepsy, and characteristic facies|cerebrooculofacial lymphatic syndrome|Baraitser-WINTER syndrome 1|BRWS1|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|Fryns-Aftimos syndrome|iris coloboma with ptosis, hypertelorism, and intellectual disability|iris coloboma with ptosis, hypertelorism, and mental retardation|cerebrofrontofacial syndrome|Baraitser-Winter syndrome type 1|intellectual disability with epilepsy and characteristic facies|Baraitser-Winter syndrome 1|mental retardation with epilepsy and characteristic facies|chromosome 7P22 deletion syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|ACTB Baraitser-Winter cerebrofrontofacial syndrome											OMIM:243310|UMLS:C1837819|UMLS:C1853623																		owl:Class
MONDO:0007388	biolink:NamedThing	congenitally short costocoracoid ligament	Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.	mondoexuq1wtf	costocoracoid ligament, congenitally short|congenital shortness of the costocoracoid ligament|costocoracoid ligament congenitally short|fixation of the scapula to the first rib by a congenitally short costocoracoid ligament											SCTID:725101002|GARD:0001551|Orphanet:2391|MESH:C536448|OMIM:122580|ICD10:Q68.8														https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short				owl:Class
MONDO:0010678	biolink:NamedThing	muscular dystrophy, progressive Pectorodorsal		mondoexuq1wtf	muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back											MESH:C564095|OMIM:310095|UMLS:C1839669																		owl:Class
MONDO:0020765	biolink:NamedThing	neuropathy, congenital hypomyelinating, 2		mondoexuq1wtf	NEUROPATHY, CONGENITAL HYPOMYELINATING, 2|CHN2											OMIM:618184																		owl:Class
MONDO:0030032	biolink:NamedThing	chromosome 17q11.2 duplication syndrome, 1.4-mb		mondoexuq1wtf	CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB|Nf1 Microduplication Syndrome											OMIM:618874																		owl:Class
MONDO:0030869	biolink:NamedThing	spermatogenic failures 50		mondoexuq1wtf	spermatogenic failures 50|SPGF50											OMIM:619145																		owl:Class
MONDO:0008363	biolink:NamedThing	raindrop hypopigmentation		mondoexuq1wtf	raindrop hypopigmentation											MESH:C566724|OMIM:179500																		owl:Class
MONDO:0015481	biolink:NamedThing	coloboma of inferior eyelid	Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.	mondoexuq1wtf	Inferior palpebral coloboma					Editor note: TODO axioms						SCTID:763133008|ICD10:Q10.3|Orphanet:155889																		owl:Class
MONDO:0015584	biolink:NamedThing	febrile infection-related epilepsy syndrome	Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.	mondoexuq1wtf	status epilepticus owing to presumed encephalitis|severe refractory status epilepticus owing to presumed encephalitis|acute encephalitis with refractory repetitive partial seizures|DESC syndrome|idiopathic catastrophic epileptic encephalopathy|fever-induced refractory epileptic encephalopathy in school-aged children|AERRPS|acute non-herpetic encephalitis with severe refractory status epilepticus|FIRES|devastating epileptic encephalopathy in school-aged children											GARD:0011005|ICD10:G40.5|Orphanet:163703|UMLS:CN199955|SCTID:725413002														https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome				owl:Class
MONDO:0010896	biolink:NamedThing	pigment dispersion syndrome	Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.	mondoexuq1wtf	glaucoma-RELATED pigment dispersion syndrome|glaucoma, pigment-dispersion type|GPDS1|glaucoma-related pigment dispersion syndrome|pigment-dispersion syndrome|pigment-dispersion type glaucoma|pigment dispersion syndrome											GARD:0004356|UMLS:C1271398|MESH:C563184|SCTID:392133001|OMIM:600510|DOID:0060680														https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome				owl:Class
MONDO:0005830	biolink:NamedThing	lumpy skin disease	A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.	mondoexuq1wtf												UMLS:C0024106|EFO:0007349|MESH:D008166																		owl:Class
MONDO:0016312	biolink:NamedThing	5-fluorouracil poisoning	5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.	mondoexuq1wtf	5-fluorouracil intoxication											ICD10:T45.1|UMLS:CN201128|MESH:C531667|Orphanet:217064																		owl:Class
MONDO:0017392	biolink:NamedThing	pre-descemet corneal dystrophy	Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.	mondoexuq1wtf	PDCD											SCTID:231934009|ICD9:371.56|Orphanet:293462|ICD10:H18.5																		owl:Class
MONDO:0010460	biolink:NamedThing	syndromic X-linked intellectual disability 17	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.	mondoexuq1wtf	intellectual disability, X-linked, with alacrima and achalasia|syndromic X-linked intellectual disability type 17|X-linked intellectual disability with alacrima and achalasia|mental retardation, X-linked, syndromic 17|mental retardation, X-linked, with alacrima and achalasia|intellectual disability-alacrima-achalasia syndrome|intellectual disability, X-linked, syndromic 17|X-linked mental retardation with alacrima and achalasia|MRXS17											OMIM:300858|DOID:0060803|Orphanet:289483|UMLS:C3275460																		owl:Class
MONDO:0019408	biolink:NamedThing	Astley-Kendall dysplasia	Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.	mondoexuq1wtf	short limbed dwarfism with extensive stippling|Astley-Kendall syndrome											UMLS:C1300228|MESH:C535392|ICD10:Q77.3|GARD:0009220|Orphanet:85175|SCTID:389263004																		owl:Class
MONDO:0060664	biolink:NamedThing	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		mondoexuq1wtf	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities|NEDMCR											UMLS:CN889218|OMIM:617913																		owl:Class
MONDO:0017499	biolink:NamedThing	congenital absence of both forearm and hand, bilateral	Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.	mondoexuq1wtf	radio-ulnar terminal transverse meromelia, bilateral											Orphanet:295095|ICD10:Q71.2|ICD10:Q71.23																		owl:Class
MONDO:0032826	biolink:NamedThing	nephrotic syndrome, type 21		mondoexuq1wtf	NEPHROTIC SYNDROME, TYPE 21|NPHS21											OMIM:618594																		owl:Class
MONDO:0008912	biolink:NamedThing	cardiac septal defects with coarctation of the aorta		mondoexuq1wtf	cardiac septal defects with coarctation of the aorta											MESH:C565883|OMIM:212090|UMLS:C1859331																		owl:Class
MONDO:0030994	biolink:NamedThing	neurodevelopmental disorder with or without autism or seizures		mondoexuq1wtf	NEDAUS											OMIM:619239																		owl:Class
MONDO:0015687	biolink:NamedThing	chronic eosinophilic leukemia		mondoexuq1wtf												MESH:C580364|MedDRA:10065854|SCTID:188733003|ICD10:D47.5|DOID:0080367|Orphanet:168940|UMLS:C0346421																		owl:Class
MONDO:0017465	biolink:NamedThing	congenital pseudoarthrosis of the radius		mondoexuq1wtf	congenital pseudarthrosis of the radius											Orphanet:295024|ICD10:Q74.0																		owl:Class
MONDO:0032848	biolink:NamedThing	immunodeficiency 65, susceptibility to viral infections		mondoexuq1wtf	IMD65|IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS											OMIM:618648																		owl:Class
MONDO:0000450	biolink:NamedThing	secondary progressive multiple sclerosis	A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.	mondoexuq1wtf	SPMS|secondary-progressive MS											DOID:0050783|EFO:0008522|UMLS:C0751965|SCTID:425500002																		owl:Class
MONDO:0027462	biolink:NamedThing	autosomal recessive cutis laxa type 2C	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.	mondoexuq1wtf	cutis laxa, autosomal recessive, type IIC|autosomal recessive cutis laxa type IIC|cutis laxa, autosomal recessive, type 2C|ARCL2C											ICD10:Q82.8|OMIM:617402|DOID:0070140																		owl:Class
MONDO:0022887	biolink:NamedThing	craniofrontonasal syndrome Teebi type		mondoexuq1wtf												GARD:0001579														https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type				owl:Class
MONDO:0002863	biolink:NamedThing	rhabdomyosarcoma with mixed embryonal and alveolar features	A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.	mondoexuq1wtf	mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|mixed alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed type alveolar rhabdomyosarcoma|mixed type rhabdomyosarcoma											NCIT:C4259|DOID:4065|ICDO:8902/3|UMLS:C0334481|UMLS:C1709053																		owl:Class
MONDO:0017583	biolink:NamedThing	mirror polydactyly-vertebral segmentation-limbs defects syndrome	Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	mondoexuq1wtf												ICD10:Q87.2|Orphanet:3004|UMLS:CN203387																		owl:Class
MONDO:0017696	biolink:NamedThing	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form		mondoexuq1wtf	glycogenosis type 4, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogenosis type IV, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|GSDIV, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form|GSD type 4, non progressive hepatic form											UMLS:CN203595|ICD10:E74.0|Orphanet:308638																		owl:Class
MONDO:0010599	biolink:NamedThing	granulomas, congenital cerebral		mondoexuq1wtf	congenital cerebral granulomas|granulomas, congenital cerebral											MESH:C537294|UMLS:C1844406|OMIM:306300|GARD:0008368														https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral				owl:Class
MONDO:0002174	biolink:NamedThing	preretinal fibrosis	A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)	mondoexuq1wtf	macular retinal puckering|cellophane maculopathy|macular puckering of retina											ICD9:362.89|ICD9:362.56|MESH:D019773|DOID:2006|SCTID:367649002																		owl:Class
MONDO:0037735	biolink:NamedThing	sebaceous gland cancer	A cancer that involves the sebaceous gland.	mondoexuq1wtf	malignant neoplasm of sebaceous gland|malignant neoplasm of the sebaceous gland|malignant sebaceous gland tumor|malignant tumor of sebaceous gland|cancer of sebaceous gland|malignant tumor of the sebaceous gland|malignant sebaceous tumor|malignant sebaceous neoplasm|malignant sebaceous gland neoplasm											UMLS:C1382026|NCIT:C8409																		owl:Class
MONDO:0010112	biolink:NamedThing	thalamic degeneration, symmetric infantile		mondoexuq1wtf	thalamic degeneration, symmetric infantile|symmetric infantile thalamic degeneration|symmetrical thalamic degeneration in infants											UMLS:C2931220|MESH:C536504|GARD:0005160|Orphanet:3311|OMIM:273490														https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile				owl:Class
MONDO:0006711	biolink:NamedThing	constrictive pericarditis	A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.	mondoexuq1wtf	constrictive pericarditis (disease)|constrictive pericarditis		constrictive pericarditis (disease)									DOID:11481|HP:0002563|MedDRA:10010783|SCTID:85598007|EFO:1000878|COHD:312334|ICD9:423.2|UMLS:C0031048|MESH:D010494|NCIT:C78246																		owl:Class
MONDO:0024332	biolink:NamedThing	perennial allergic rhinitis	Allergic rhinitis caused by indoor allergens and lasting year round.	mondoexuq1wtf	nonseasonal allergic rhinitis|perennial allergic rhinitis|non-seasonal allergic rhinitis											UMLS:C0035457|NCIT:C92189|SCTID:446096008																		owl:Class
MONDO:0007843	biolink:NamedThing	Kabuki syndrome 1		mondoexuq1wtf	KABUKI syndrome 1|Kabuki syndrome|Kabuki syndrome type 1|Kabuki make-Up syndrome|KABUK1|Kabuki syndrome 1|Niikawa-Kuroki syndrome											OMIM:147920|UMLS:CN030661																		owl:Class
MONDO:0007923	biolink:NamedThing	macrocephaly, benign familial		mondoexuq1wtf	macrocephaly, benign familial|Cole-Hughes syndrome|benign familial macrocephaly|benign familial megalencephaly											GARD:0000147|MESH:C537717|OMIM:153470														https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial				owl:Class
MONDO:0020317	biolink:NamedThing	acute myeloid leukemia with 11q23 abnormalities	An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.	mondoexuq1wtf	acute myeloid leukemia with 11q23 (MLL) abnormalities|AML with 11q23 abnormalities|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL											NCIT:C82403|SCTID:444911000|Orphanet:98831|ICDO:9897/3|ICD10:C92.6																		owl:Class
MONDO:0033534	biolink:NamedThing	combined oxidative phosphorylation deficiency 46		mondoexuq1wtf	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46|COXPD46											OMIM:618952																		owl:Class
MONDO:0011195	biolink:NamedThing	Usher syndrome type 1E	A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.	mondoexuq1wtf	Usher syndrome type IE|USH1E|Usher syndrome, type 1E|USHER syndrome, type IE											UMLS:C1865865|ICD10:H35.5|OMIM:602097|DOID:0110833|GARD:0005439														https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e				owl:Class
MONDO:0016673	biolink:NamedThing	localized junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.	mondoexuq1wtf	JEB-nH loc											UMLS:CN201914|Orphanet:251393|GARD:0012923|ICD10:Q81.8														https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type				owl:Class
MONDO:0006990	biolink:NamedThing	suppurative uveitis	Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.	mondoexuq1wtf												UMLS:C0042168|EFO:1001203|MESH:D015829|DOID:13140																		owl:Class
MONDO:0012816	biolink:NamedThing	atrial fibrillation, familial, 6	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.	mondoexuq1wtf	ATFB6|atrial fibrillation, familial, 6|NPPA familial atrial fibrillation|familial atrial fibrillation caused by mutation in NPPA|atrial fibrillation, familial, type 6											OMIM:612201|UMLS:C2677294|MESH:C567400																		owl:Class
MONDO:0006159	biolink:NamedThing	colorectal gastrointestinal stromal tumor	A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.	mondoexuq1wtf	colorectal gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor|colorectal gist|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)											NCIT:C27735|EFO:1000192|UMLS:C1333109																		owl:Class
MONDO:0019440	biolink:NamedThing	wild type ABeta2M amyloidosis		mondoexuq1wtf	ABeta2Mwt amyloidosis|dialysis-related arthropathy|DRA|amyloidosis dialysis-related|amyloidosis beta2m|dialysis-related amyloidosis|wild type ABeta2-microglobulinic amyloidosis|Beta-2-microglobulin amyloidosis											SCTID:32599008|Orphanet:85446|ICD10:E85.3|UMLS:CN206197|GARD:0010563														https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m				owl:Class
MONDO:0011448	biolink:NamedThing	PPARG-related familial partial lipodystrophy		mondoexuq1wtf	familial partial lipodystrophy associated with PPARG mutations|familial partial lipodystrophy type 3|FPLD3|PPARG-related FPLD|lipodystrophy, familial partial, type 3|lipodystrophy, familial partial, associated with Pparg mutations											GARD:0012600|ICD10:E88.1|Orphanet:79083|DOID:0070204|OMIM:604367																		owl:Class
MONDO:0016621	biolink:NamedThing	juvenile Huntington disease	Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.	mondoexuq1wtf	juvenile onset HD|JHD|juvenile Huntington chorea|Huntington disease, juvenile onset											NCIT:C147072|SCTID:230299004|UMLS:C0751208|Orphanet:248111|GARD:0010510|ICD10:G10														https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease				owl:Class
MONDO:0009876	biolink:NamedThing	isolated growth hormone deficiency type IA	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.	mondoexuq1wtf	non-acquired isolated growth hormone deficiency|IGHD1A|congenital IGHD|IGHD 1A|Growth hormone deficiency, isolated autosomal recessive|congenital isolated GH deficiency type IA|congenital isolated growth hormone deficiency|pituitary dwarfism I|congenital isolated GH deficiency|isolated growth hormone deficiency type IA|Growth hormone deficiency, isolated, autosomal recessive|isolated growth hormone deficiency, type IA|ILLIG type growth hormone deficiency|congenital isolated growth hormone deficiency type IA|congenital IGHD type IA|Illig-type Growth hormone deficiency|primordial dwarfism|isolated growth hormone deficiency type 1A|autosomal recessive isolated growth hormone deficiency|IGHD IA|pituitary dwarfism 1|isolated Growth hormone deficiency, type 1A|Illig-type growth hormone deficiency|sexual ateleiotic dwarfism											MESH:C537404|SCTID:237837007|DOID:0060873|OMIM:262400|GARD:0007399|Orphanet:231662|ICD10:E23.0|ICD9:259.4														https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a				owl:Class
MONDO:0032578	biolink:NamedThing	cortical dysplasia, complex, with other brain malformations 9		mondoexuq1wtf	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9|CDCBM9											OMIM:618174																		owl:Class
MONDO:0012033	biolink:NamedThing	bradyopsia	Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.	mondoexuq1wtf	bradyopsia|PERRS|prolonged electroretinal response suppression											ICD10:H53.8|Orphanet:75374|SCTID:711163009|OMIM:608415|DOID:0050335|GARD:0012299|MESH:C564243|ICD9:368.8														https://rarediseases.info.nih.gov/diseases/12299/bradyopsia				owl:Class
MONDO:0019552	biolink:NamedThing	centrifugal lipodystrophy	Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.	mondoexuq1wtf	lipodystrophia centrifugalis abdominalis infantilis											Orphanet:90156|ICD10:E88.1																		owl:Class
MONDO:0008904	biolink:NamedThing	camptomelic syndrome, long-limb type		mondoexuq1wtf	camptomelic syndrome, long-limb type|campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type											MESH:C537977|OMIM:211990|GARD:0001071|UMLS:C1859354														https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type				owl:Class
MONDO:0001638	biolink:NamedThing	protein-deficiency anemia		mondoexuq1wtf	anemia due to protein deficiency											SCTID:191156009|ICD10:D53.0|COHD:436083|UMLS:C0154290|ICD9:281.4|DOID:13120																		owl:Class
MONDO:0010231	biolink:NamedThing	intellectual disability, X-linked 20		mondoexuq1wtf	MRX20|mental retardation, X-linked 20|intellectual disability, X-linked 20											MESH:C563142|UMLS:C0796226|OMIM:300047																		owl:Class
MONDO:0017063	biolink:NamedThing	total spina bifida aperta		mondoexuq1wtf												Orphanet:268377|UMLS:CN202422																		owl:Class
MONDO:0025061	biolink:NamedThing	edema disease of swine	An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.	mondoexuq1wtf	swine edema diseases|swine edema disease											MESH:D004488|UMLS:C0013605																		owl:Class
MONDO:0007860	biolink:NamedThing	focal palmoplantar and gingival keratoderma	Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	mondoexuq1wtf	keratosis, focal palmoplantar and gingival|focal palmoplantar and gingival hyperkeratosis|focal palmoplantar and oral mucosa hyperkeratosis|keratosis focal palmoplantar gingival|focal palmoplantar and gingival hyperkeratosis syndrome											GARD:0003098|OMIM:148730|MESH:C536157|Orphanet:2200|ICD10:Q82.8|UMLS:C1835650|SCTID:764963007														https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma				owl:Class
MONDO:0001190	biolink:NamedThing	Brucella suis brucellosis	An disease or disorder caused by infection with Brucella suis.	mondoexuq1wtf	Brucella suis caused disease or disorder|Brucella suis disease or disorder|Brucella suis infectious disease											DOID:11076																		owl:Class
MONDO:0017426	biolink:NamedThing	postaxial polydactyly of fingers		mondoexuq1wtf	postaxial polydactyly of hand					Editor note: check						Orphanet:294942|SCTID:205131007|ICD10:Q69.0|GARD:0012460																		owl:Class
MONDO:0008517	biolink:NamedThing	syndactyly-polydactyly-ear lobe syndrome		mondoexuq1wtf	Spel syndrome|hallux syndactyly ulnar polydactyly abnormal ear lobes|syndactyly-polydactyly-earlobe syndrome											MESH:C566091|UMLS:C1861347|GARD:0005090|Orphanet:3259|OMIM:186350																		owl:Class
MONDO:0016765	biolink:NamedThing	19p13.12 microdeletion syndrome	19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	mondoexuq1wtf	Del(19)(p13.12)|Chromosome19p13.12 microdeletion|monosomy 19p13.12											SCTID:719597005|UMLS:C4304579|UMLS:CN202023|GARD:0010991|ICD10:Q93.5|Orphanet:254346														https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome				owl:Class
MONDO:0004288	biolink:NamedThing	scirrhous breast carcinoma	An infiltrating ductal breast carcinoma associated with stromal fibrosis.	mondoexuq1wtf	scirrhous carcinoma of the breast|infiltrating carcinoma of the breast with fibrotic Stroma|scirrhous carcinoma of breast|breast scirrhous carcinoma|infiltrating carcinoma of breast with fibrotic Stroma|scirrhous breast carcinoma											UMLS:C0346151|ICDO:8514/3|DOID:7578|SCTID:254839007|NCIT:C7362																		owl:Class
MONDO:0001197	biolink:NamedThing	qualitative platelet defect		mondoexuq1wtf	qualitative platelet deficiency											SCTID:267532001|UMLS:C0235604|ICD10:D69.1|DOID:11125|ICD9:287.1																		owl:Class
MONDO:0013022	biolink:NamedThing	restless legs syndrome, susceptibility to, 7		mondoexuq1wtf	RLS7|restless legs syndrome, susceptibility to, 7											OMIM:612853																		owl:Class
PATO:0000001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0004811	biolink:NamedThing	simple chronic conjunctivitis		mondoexuq1wtf												COHD:379816|SCTID:8211008|DOID:9512|ICD9:372.11|UMLS:C0155146|ICD10:H10.42																		owl:Class
MONDO:0006273	biolink:NamedThing	low grade fibromyxoid sarcoma with giant collagen rosettes	A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.	mondoexuq1wtf	hyalinizing spindle cell tumor with giant Rosettes											UMLS:C1708749|EFO:1000329|NCIT:C45203																		owl:Class
MONDO:0006868	biolink:NamedThing	neurogenic bowel	Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.	mondoexuq1wtf												UMLS:C0695242|COHD:201900|ICD9:564.81|DOID:13419|SCTID:425671009|MedDRA:10048657|EFO:1001061|ICD10:K59.2|MESH:D055496																		owl:Class
MONDO:0011711	biolink:NamedThing	specific language impairment 2		mondoexuq1wtf	SLI2|specific language impairment 2|specific language impairment quantitative trait locus on chromosome 19											OMIM:606712|UMLS:C1847605																		owl:Class
MONDO:0006777	biolink:NamedThing	hairy tongue	A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.	mondoexuq1wtf	Tongues, hairy|overgrowth of filiform papillae|hairy Tongues|hairy tongue											DOID:13500|ICD9:529.8|UMLS:C0040414|MedDRA:10043960|SCTID:255225007|EFO:1000957|NCIT:C35075|MESH:D014064																		owl:Class
MONDO:0023022	biolink:NamedThing	dwarfism thin bones multiple fractures		mondoexuq1wtf												GARD:0001992														https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures				owl:Class
MONDO:0003979	biolink:NamedThing	intrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.	mondoexuq1wtf	cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm|intrahepatic bile duct cystadenoma											NCIT:C96835|DOID:6733|UMLS:C1334257																		owl:Class
MONDO:0007914	biolink:NamedThing	lumbar stenosis, familial		mondoexuq1wtf	lumbar stenosis, familial											OMIM:152550|UMLS:C1835320|MESH:C563613																		owl:Class
MONDO:0017296	biolink:NamedThing	glycerol kinase deficiency, adult form	Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.	mondoexuq1wtf												ICD10:E74.8|Orphanet:284414																		owl:Class
MONDO:0010067	biolink:NamedThing	splenoportal vascular anomalies		mondoexuq1wtf	splenoportal vascular anomalies											MESH:C562761|OMIM:271500|SCTID:234131004																		owl:Class
MONDO:0012229	biolink:NamedThing	myopia 9		mondoexuq1wtf	MYP9|myopia 9											UMLS:C1836504|OMIM:609258|MESH:C563759																		owl:Class
MONDO:0005418	biolink:NamedThing	non-compaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	mondoexuq1wtf												EFO:0004686																		owl:Class
MONDO:0001366	biolink:NamedThing	splenic sequestration		mondoexuq1wtf						Editor note: TODO consider cede to HPO						ICD9:289.52|DOID:11786																		owl:Class
MONDO:0007061	biolink:NamedThing	acylase, cobalt-activated		mondoexuq1wtf	acylase, cobalt-activated											OMIM:102590																		owl:Class
MONDO:0005463	biolink:NamedThing	aortic valve calcification	Calcification of the aortic valve	mondoexuq1wtf	aortic valve calcification|aortic valve calcification (disease)		aortic valve calcification (disease)									SCTID:250978003|EFO:0005239|HP:0004380|UMLS:C0428791																		owl:Class
MONDO:0009534	biolink:NamedThing	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation		mondoexuq1wtf	lymphoblastic transformation, inhibition of											MESH:C565433|OMIM:247430																		owl:Class
MONDO:0020321	biolink:NamedThing	acute undifferentiated leukemia	A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.	mondoexuq1wtf	acute myeloid leukemia, minimal differentiation, FAB M0|leukemia stem cell|acute undifferentiated leukemia|stem cell acute leukemia|stem cell leukemia|undifferentiated acute leukemia|AUL											Orphanet:98835|ONCOTREE:AUL|UMLS:C0280141|ICD10:C95.0|NCIT:C9298|MedDRA:10045516|UMLS:C0856823|UMLS:C1282947|SCTID:359631009																		owl:Class
MONDO:0006246	biolink:NamedThing	high grade surface osteosarcoma	A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	mondoexuq1wtf	high-grade surface osteosarcoma|high grade surface osteosarcoma											NCIT:C53958|UMLS:C1266165|ICDO:9194/3|ONCOTREE:HGSOS|EFO:1000296																		owl:Class
MONDO:0011833	biolink:NamedThing	spinocerebellar ataxia type 21	Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	mondoexuq1wtf	spinocerebellar ataxia 21|SCA21|spinocerebellar ataxia type 21											GARD:0009999|SCTID:718774001|MESH:C537200|UMLS:C1843891|OMIM:607454|UMLS:C4305144|Orphanet:98773|ICD10:G11.1|DOID:0050972																		owl:Class
MONDO:0017199	biolink:NamedThing	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	mondoexuq1wtf	Heide syndrome											Orphanet:2787|UMLS:C4274786|UMLS:CN202651|SCTID:716189005																		owl:Class
MONDO:0017460	biolink:NamedThing	syndactyly type 6	Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.	mondoexuq1wtf	mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type											Orphanet:295012|ICD10:Q70.1|UMLS:CN203203|SCTID:763624007																		owl:Class
MONDO:0032569	biolink:NamedThing	isolated growth hormone deficiency, type 5		mondoexuq1wtf	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V|IGHD5											OMIM:618160																		owl:Class
MONDO:0007456	biolink:NamedThing	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency		mondoexuq1wtf	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency											UMLS:C1852087|OMIM:125890|MESH:C565099																		owl:Class
MONDO:0008993	biolink:NamedThing	cleft palate-stapes fixation-oligodontia syndrome	Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.	mondoexuq1wtf	cleft palate, deafness, and oligodontia|cleft palate stapes fixation oligodontia											OMIM:216300|MESH:C565844|UMLS:C1859081|Orphanet:2010|ICD10:Q87.8|GARD:0001393														https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia				owl:Class
MONDO:0024345	biolink:NamedThing	pityriasis streptogenes		mondoexuq1wtf	pityriasis streptogenes											ICD9:696.5|SCTID:200994002																		owl:Class
MONDO:0007942	biolink:NamedThing	Mammastatin		mondoexuq1wtf	Mammastatin											OMIM:154370																		owl:Class
MONDO:0009471	biolink:NamedThing	intrinsic factor and r binder, combined congenital deficiency of		mondoexuq1wtf	intrinsic factor and r binder, combined congenital deficiency of											UMLS:C1855721|MESH:C565461|OMIM:243320																		owl:Class
MONDO:0017055	biolink:NamedThing	mycophenolate mofetil embryopathy	Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.	mondoexuq1wtf	MMF embryopathy											UMLS:C4509879|Orphanet:268249|ICD10:Q86.8|SCTID:723406000																		owl:Class
MONDO:0002219	biolink:NamedThing	paraurethral gland neoplasm	A neoplasm (disease) that involves the paraurethral gland.	mondoexuq1wtf	paraurethral gland neoplasm (disease)|tumor of paraurethral gland|tumor of the paraurethral gland|neoplasm of paraurethral gland|paraurethral gland tumor|neoplasm of paraurethral glands											ICD9:239.5|DOID:2139|SCTID:126884005|UMLS:C0341766																		owl:Class
MONDO:0009596	biolink:NamedThing	metaphyseal chondrodysplasia, Pena type		mondoexuq1wtf	metaphyseal chondrodysplasia, Pena type											MESH:C565399|OMIM:250300|UMLS:C1855195																		owl:Class
MONDO:0014974	biolink:NamedThing	sudden cardiac failure, alcohol-induced		mondoexuq1wtf	sudden Cardiac failure, alcohol-induced|SCFAI|sudden cardiac failure, alcohol-induced; SCFAI											UMLS:C4310663|OMIM:617223																		owl:Class
MONDO:0013292	biolink:NamedThing	chromosome 4q21 deletion syndrome	The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	mondoexuq1wtf	monosomy 4q21|4q21 microdeletion syndrome|chromosome 4q21 deletion syndrome|Del(4)(q21)											Orphanet:238750|ICD10:Q93.5|UMLS:C4304530|DOID:0060420|SCTID:719660008|UMLS:C3150756|OMIM:613509																		owl:Class
MONDO:0029142	biolink:NamedThing	deafness, autosomal recessive 111		mondoexuq1wtf	deafness, autosomal recessive 111|DFNB111											OMIM:618145|DOID:0111640																		owl:Class
MONDO:0017677	biolink:NamedThing	focal acral hyperkeratosis		mondoexuq1wtf	punctate palmoplantar hyperkeratosis type 3 without elastoidosis|PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis											UMLS:C1302839|SCTID:400115004|Orphanet:308013|ICD10:Q82.8																		owl:Class
MONDO:0010005	biolink:NamedThing	saccharopinuria	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.	mondoexuq1wtf	saccharopine dehydrogenase deficiency|hyperlysinemia, type 2|saccharopinuria|hyperlysinemia type II|Alpha-aminoadipic semialdehyde synthase deficiency											SCTID:111397004|MESH:C537218|ICD9:270.7|OMIM:268700|UMLS:C0268556|ICD10:E72.3|Orphanet:3124|GARD:0000314																		owl:Class
MONDO:0008841	biolink:NamedThing	ataxia-telangiectasia with generalized skin pigmentation and early death		mondoexuq1wtf	ataxia-telangiectasia with generalized skin pigmentation and early death											UMLS:C1859615|OMIM:208910|MESH:C565930																		owl:Class
MONDO:0012600	biolink:NamedThing	autism, susceptibility to, 9		mondoexuq1wtf	autism, susceptibility to, 9|AUTS9											OMIM:611015																		owl:Class
MONDO:0012614	biolink:NamedThing	intellectual disability, autosomal recessive 6	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.	mondoexuq1wtf	intellectual disability, autosomal recessive type 6|GRIK2 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 6|mental retardation, autosomal recessive 6|MRT6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|intellectual disability, autosomal recessive 6											OMIM:611092|UMLS:C1970198|MESH:C567017																		owl:Class
MONDO:0007218	biolink:NamedThing	brachydactyly type A4	Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.	mondoexuq1wtf	brachydactyly, Temtamy type|Temtamy type brachydactyly|Brachymesophalangy 2 and 5|Brachymesophalangy II and V|brachydactyly, type A4|brachymesophalangy II and V|brachydactyly Temtamy type|BDA4											OMIM:112800|DOID:0110967|GARD:0000990|MESH:C537097|ICD10:Q73.8|Orphanet:93394|SCTID:715721005														https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4				owl:Class
MONDO:0008874	biolink:NamedThing	Bangstad syndrome	Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.	mondoexuq1wtf	ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency|Bangstad syndrome											SCTID:237614004|GARD:0000812|MESH:C537902|Orphanet:1227|ICD10:E31.8|UMLS:C0342284|OMIM:210740|ICD9:759.89														https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome				owl:Class
MONDO:0030013	biolink:NamedThing	immunodeficiency 66		mondoexuq1wtf	IMMUNODEFICIENCY 66|IMD66|immunodeficiency 66											OMIM:618847																		owl:Class
MONDO:0008482	biolink:NamedThing	Sprengel deformity		mondoexuq1wtf	Sprengel's shoulder|high scapula|Sprengel deformity|Sprengel deformity (disease)|congenital elevation of the scapula|Sprengel's deformity|congenital upward displacement of the scapula		Sprengel deformity (disease)									ICD10:Q74.0|MESH:C535802|MedDRA:10010455|OMIM:184400|HP:0000912|SCTID:79120002|Orphanet:3181|GARD:0007693																		owl:Class
MONDO:0007701	biolink:NamedThing	progressive familial heart block type II		mondoexuq1wtf	PFHB2|progressive familial heart block type 2|progressive familial heart block, type II|PFHBII|heart block progressive familial type 2											DOID:0111075|OMIM:140400|SCTID:698251009|MESH:C564202|GARD:0004879|ICD9:426.6														https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2				owl:Class
MONDO:0042490	biolink:NamedThing	neutropenia, severe congenital, 1, autosomal dominant		mondoexuq1wtf	SCN1|neutropenia, severe congenital, 1, autosomal dominant											MESH:C565969|DOID:0080625|OMIM:202700																		owl:Class
MONDO:0008183	biolink:NamedThing	annular pancreas	Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.	mondoexuq1wtf	pancreas, annular											NCIT:C98813|DOID:0060850|MedDRA:10071757|Orphanet:675|OMIM:167750|GARD:0000705|UMLS:C0149955|SCTID:40315008|MESH:C536376|ICD10:Q45.1														https://rarediseases.info.nih.gov/diseases/705/annular-pancreas				owl:Class
MONDO:0019476	biolink:NamedThing	primary cutaneous peripheral T-cell lymphoma not otherwise specified		mondoexuq1wtf	primary cutaneous unspecified peripheral T-cell lymphoma											ICD10:C84.4|Orphanet:86885|MedDRA:10034623																		owl:Class
MONDO:0015348	biolink:NamedThing	leukoencephalopathy with bilateral anterior temporal lobe cysts	Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.	mondoexuq1wtf												ICD10:E75.2|Orphanet:139444																		owl:Class
MONDO:0008312	biolink:NamedThing	autosomal dominant prognathism	Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).	mondoexuq1wtf	'Habsburg jaw'|prognathism, mandibular|prognathism mandibular|Habsburg jaw|Hapsburg jaw|'Hapsburg jaw'											MESH:D008313|GARD:0010319|UMLS:CN203311|OMIM:176700|ICD10:K07.1|Orphanet:2964																		owl:Class
MONDO:0008273	biolink:NamedThing	actinic prurigo		mondoexuq1wtf	familial polymorphous light eruption of American Indians|Hutchinson summer prurigo|hereditary polymorphous light eruption of American Indians|juvenile Spring eruption of ears|hydroa aestivale|polymorphic Light eruption, hereditary|actinic prurigo											ICD10:L56.4|UMLS:C0406217|Orphanet:330061|COHD:141374|SCTID:201015007|OMIM:174770																		owl:Class
MONDO:0009701	biolink:NamedThing	myopathy, granulovacuolar lobular, with electrical myotonia		mondoexuq1wtf	myopathy, granulovacuolar lobular, with electrical myotonia											MESH:C564974|OMIM:254950|UMLS:C1850745																		owl:Class
MONDO:0032837	biolink:NamedThing	abdominal obesity-metabolic syndrome 4		mondoexuq1wtf	ABDOMINAL OBESITY-METABOLIC SYNDROME 4|AOMS4											OMIM:618620																		owl:Class
MONDO:0017555	biolink:NamedThing	radio-ulnar synostosis, bilateral		mondoexuq1wtf	radio-ulnar fusion, bilateral											ICD10:Q74.0|Orphanet:295219|UMLS:CN203291																		owl:Class
MONDO:0011432	biolink:NamedThing	blepharophimosis - intellectual disability syndrome, Verloes type		mondoexuq1wtf	blepharophimosis-intellectual disability syndrome type V|blepharophimosis-intellectual disability syndrome, Verloes type|BMRS type V|BMRS, Verloes type|blepharophimosis-mental retardation syndrome, Verloes type|blepharophimosis with facial and genital anomalies and intellectual disability|blepharophimosis with facial and genital anomalies and mental retardation											MESH:C565797|OMIM:604314|UMLS:C1858538|Orphanet:293725																		owl:Class
MONDO:0015093	biolink:NamedThing	sub-cortical nodular heterotopia		mondoexuq1wtf												ICD10:Q04.8|Orphanet:101029																		owl:Class
MONDO:0015164	biolink:NamedThing	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).	mondoexuq1wtf	AML and myelodysplastic syndromes related to alkylating agent											ICD10:C92.8|UMLS:CN197504|Orphanet:102379																		owl:Class
MONDO:0010562	biolink:NamedThing	colonic atresia	Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.	mondoexuq1wtf	colonic atresia|colon atresia|atresia of colon|congenital atresia of colon|colonic atresia (disease)		colonic atresia (disease)									MESH:C562562|SCTID:37054000|Orphanet:1198|HP:0010448|GARD:0001446|ICD10:Q42.9|OMIM:303650|NCIT:C101024																		owl:Class
MONDO:0022809	biolink:NamedThing	Colver Steer Godman syndrome		mondoexuq1wtf												GARD:0001448														https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome				owl:Class
MONDO:0004913	biolink:NamedThing	alternating esotropia		mondoexuq1wtf												DOID:9888|ICD10:H50.05|SCTID:39837002|COHD:381031|UMLS:C0152205|ICD9:378.05																		owl:Class
MONDO:0012227	biolink:NamedThing	myopia 7		mondoexuq1wtf	myopia 7|MYP7											UMLS:C1836506|MESH:C563761|OMIM:609256																		owl:Class
MONDO:0026726	biolink:NamedThing	nephrotic syndrome, type 20		mondoexuq1wtf	NPHS20|NEPHROTIC SYNDROME, TYPE 20											OMIM:301028|DOID:0070357																		owl:Class
MONDO:0010978	biolink:NamedThing	portal vein, cavernous transformation of		mondoexuq1wtf	portal vein, cavernous transformation of											MESH:C563407|UMLS:C1832917|OMIM:601004																		owl:Class
MONDO:0013697	biolink:NamedThing	intellectual disability, autosomal recessive 29		mondoexuq1wtf	intellectual disability, autosomal recessive 29|MRT29|mental retardation, autosomal recessive 29											UMLS:C3280525|OMIM:614333																		owl:Class
MONDO:0002287	biolink:NamedThing	glandular cystitis	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.	mondoexuq1wtf	cystitis glandularis											SCTID:72815004|DOID:2392|NCIT:C39860|ICD9:595.89|UMLS:C0268837																		owl:Class
MONDO:0015521	biolink:NamedThing	juvenile or adult CACH syndrome		mondoexuq1wtf												Orphanet:157719|UMLS:CN199660|ICD10:E75.2																		owl:Class
MONDO:0007227	biolink:NamedThing	Sillence syndrome	Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.	mondoexuq1wtf	brachydactyly-symphalangism syndrome|brachydactyly-distal symphalangism syndrome											Orphanet:3168|GARD:0004869|SCTID:732956000|OMIM:113450|ICD10:Q74.8|MESH:C537338|UMLS:C1862092																		owl:Class
MONDO:0015467	biolink:NamedThing	craniosynostosis, Philadelphia type	Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	mondoexuq1wtf												ICD10:Q87.0|Orphanet:1527|SCTID:720818003|GARD:0001601																		owl:Class
MONDO:0032627	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 23		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23|MC1DN23											OMIM:618244																		owl:Class
MONDO:0023182	biolink:NamedThing	Franceschini Vardeu Guala syndrome		mondoexuq1wtf												GARD:0002371|UMLS:C2931463|MESH:C537272														https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome				owl:Class
MONDO:0060640	biolink:NamedThing	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		mondoexuq1wtf	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy|NEDMEBA											UMLS:CN787271|OMIM:617862																		owl:Class
MONDO:0010426	biolink:NamedThing	X-linked endothelial corneal dystrophy	X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.	mondoexuq1wtf	corneal dystrophy, endothelial, X-linked|endothelial corneal dystrophy, X-linked|XECD											Orphanet:293621|MESH:C567587|DOID:0060446|SCTID:718579008|ICD10:H18.5|OMIM:300779|UMLS:C2749049																		owl:Class
MONDO:0011733	biolink:NamedThing	parasomnia, sleep bruxism type		mondoexuq1wtf	nocturnal facio-mandibular myoclonus|parasomnia, sleep bruxism type|PSMNSB|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type											MESH:C536389|GARD:0010195|OMIM:606840																		owl:Class
MONDO:0017819	biolink:NamedThing	atypical dentin dysplasia due to SMOC2 deficiency		mondoexuq1wtf	dentin dysplasia type 1 with microdontia and shape anomalies											UMLS:CN203789|Orphanet:314721|ICD10:K00.5																		owl:Class
MONDO:0010267	biolink:NamedThing	episodic muscle weakness, X-linked		mondoexuq1wtf	EMWX|episodic muscle weakness, X-linked											MESH:C564565|OMIM:300211|UMLS:C1846173																		owl:Class
MONDO:0000687	biolink:NamedThing	diffuse alopecia areata	An alopecia areata that involves diffuse loss of hair over the whole scalp.	mondoexuq1wtf	Jonston's alopecia|Celsus' vitiligo|marginal alopecia|alopecia celsi|Cazenave's vitiligo|patchy alopecia											MESH:C531609|DOID:0060157|SCTID:46586006																		owl:Class
MONDO:0032892	biolink:NamedThing	structural brain anomalies with impaired intellectual development and craniosynostosis		mondoexuq1wtf	BAIDCS|STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS											OMIM:618736																		owl:Class
MONDO:0004806	biolink:NamedThing	chronic eosinophilic pneumonia	Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.	mondoexuq1wtf	eosinophilic pneumonia, chronic|cryptogenic pulmonary eosinophilia											SCTID:233692000|DOID:9502|NCIT:C34471																		owl:Class
MONDO:0019020	biolink:NamedThing	PANDAS	PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.	mondoexuq1wtf	pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune disorders associated with Streptococcus infections											MESH:C537163|UMLS:CN205481|GARD:0007312|Orphanet:66624																		owl:Class
MONDO:0011941	biolink:NamedThing	mycobacterium tuberculosis, susceptibility to, 1		mondoexuq1wtf	mycobacterium tuberculosis, susceptibility to, 1|MTBS1|Mycobacterium tuberculosis, susceptibility to, type 1											OMIM:607949																		owl:Class
MONDO:0001642	biolink:NamedThing	hordeolum externum	A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.	mondoexuq1wtf	external stye											ICD10:H00.01|ICD10:H00.03|DOID:13134|UMLS:C0019919|ICD9:373.11|SCTID:1489008																		owl:Class
MONDO:0011621	biolink:NamedThing	acropectoral syndrome	Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.	mondoexuq1wtf	syndactyly, preaxial polydactyly and sternal deformity|Dundar Acropectoral syndrome|ACRPS|syndactyly-preaxial polydactyly-sternal deformity syndrome|syndactyly, preaxial polydactyly, and sternal deformity|acro-pectoral syndrome|ACRP syndrome|acropectoral syndrome											MESH:C535664|ICD10:Q74.0|Orphanet:85203|GARD:0008485|UMLS:C1853812|OMIM:605967|SCTID:720412009														https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome				owl:Class
MONDO:0022804	biolink:NamedThing	colobomata unilobar lung heart defect		mondoexuq1wtf												GARD:0001442														https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect				owl:Class
MONDO:0019728	biolink:NamedThing	heavy chain deposition disease		mondoexuq1wtf	HCDD											UMLS:CN206635|UMLS:C1333947|NCIT:C7339|Orphanet:93556|ICD10:D89.8																		owl:Class
MONDO:0005932	biolink:NamedThing	pseudorabies	A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.	mondoexuq1wtf												MESH:D011557|EFO:0007457|UMLS:C0033839																		owl:Class
MONDO:0020540	biolink:NamedThing	ovarian gynandroblastoma	A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.	mondoexuq1wtf	Gynandroblastoma|Gynandroblastoma of ovary|Gynandroblastoma of the ovary											ICD10:D39.1|SCTID:254867003|ICD10:D40.1|UMLS:C0018413|GARD:0009665|UMLS:C0346178|Orphanet:99914|EFO:1000422|NCIT:C3072|ICDO:8632/1														https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma				owl:Class
MONDO:0019651	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation		mondoexuq1wtf												ICD10:N04.3|Orphanet:93209|UMLS:CN206523																		owl:Class
MONDO:0032804	biolink:NamedThing	ectodermal dysplasia 15, hypohidrotic/hair type		mondoexuq1wtf	ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE|ECTD15											DOID:0111651|OMIM:618535																		owl:Class
MONDO:0005639	biolink:NamedThing	AIDS related complex	A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.	mondoexuq1wtf												MESH:D000386|UMLS:C0001857|EFO:0007137																		owl:Class
MONDO:0006274	biolink:NamedThing	low grade vulvar intraepithelial neoplasia	An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)	mondoexuq1wtf	vulvar flat condyloma|vulvar mild squamous dysplasia|vulva intraepithelial neoplasia grade 1|VIN 1|grade I VIN|VIN 1 of usual type|low grade VIN|grade I vulvar intraepithelial neoplasia|vulvar intraepithelial neoplasia grade 1|vulvar Low grade squamous intraepithelial lesion|grade 1 VIN|VIN grade 1|grade 1 vulvar intraepithelial neoplasia|intraepithelial neoplasia of the vulva grade 1|vulvar intraepithelial neoplasia 1 of usual type|intraepithelial neoplasia of vulva grade 1|vulvar Low-grade squamous intraepithelial lesion											EFO:1000330|NCIT:C4760|UMLS:C0495106																		owl:Class
MONDO:0011678	biolink:NamedThing	homozygous 11P15-p14 deletion syndrome		mondoexuq1wtf	homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness											UMLS:C1847866|MESH:C564701|OMIM:606528																		owl:Class
MONDO:0008320	biolink:NamedThing	Protrusio acetabuli		mondoexuq1wtf	PROTRUSIO acetabuli|Protrusio acetabuli (disease)|Protrusio acetabuli		Protrusio acetabuli (disease)									OMIM:177050|SCTID:59606006|HP:0003179																		owl:Class
MONDO:0009366	biolink:NamedThing	normal pressure hydrocephalus	A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)	mondoexuq1wtf	low pressure hydrocephalus|chronic adult hydrocephalus|hydrocephalus, normal-pressure|NPH											COHD:432899|MESH:D006850|Orphanet:314928|ICD9:331.5|OMIM:236690|SCTID:30753002|UMLS:C0020258|EFO:1001065|ICD10:G91.2|DOID:1572|MedDRA:10029773																		owl:Class
MONDO:0011231	biolink:NamedThing	febrile seizures, familial, 2		mondoexuq1wtf	FEB2|convulsions, familial febrile, 2|febrile seizures, familial, 2											MESH:C566541|OMIM:602477|UMLS:C1865342|DOID:0111310																		owl:Class
MONDO:0003963	biolink:NamedThing	diffuse infiltrative lymphocytosis syndrome	This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.	mondoexuq1wtf	diffuse infiltra. lymph. syndrome|diffuse infiltra. lymph. sydrome											UMLS:C1333292|SCTID:449784008|NCIT:C35699|DOID:6677																		owl:Class
MONDO:0007213	biolink:NamedThing	Ballard syndrome	Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.	mondoexuq1wtf	brachydactyly types B and E combined|brachydactyly, Ballard type|Pitt-Williams brachydactyly|Ballard type brachydactyly|Pitt Williams brachydactyly|brachydactyly Ballard type|brachydactyly combined B and E types|brachydactyly, combined B and E types											ICD10:Q73.8|UMLS:C1862163|MESH:C537094|OMIM:112440|Orphanet:93395|SCTID:722298001|GARD:0000959|DOID:0110963																		owl:Class
MONDO:0000561	biolink:NamedThing	spinocerebellar ataxia type 16	An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP.	mondoexuq1wtf	SCAR16					Editor notes: Consider merging into 15/16						UMLS:CN229296|DOID:0050966|Orphanet:98770|NCIT:C150250																		owl:Class
MONDO:0022555	biolink:NamedThing	Beardwell syndrome		mondoexuq1wtf	familial ankylosing vertebral hyperostosis with tylosis											MESH:C537665|UMLS:C2931581																		owl:Class
MONDO:0023045	biolink:NamedThing	ectodermal dysplasia arthrogryposis diabetes mellitus		mondoexuq1wtf												GARD:0002042														https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus				owl:Class
MONDO:0007842	biolink:NamedThing	Ehlers-Danlos syndrome type 11	Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.	mondoexuq1wtf	Ehlers-Danlos syndrome, type 11 (formerly)|JOINT laxity, familial|EDS11, formerly|Ehlers-Danlos syndrome, type Xi, formerly|EDS 11 (formerly)|EDS Xi, formerly|familial Joint instability syndrome|EDS11|articular hypermobility syndrome|Ehlers-Danlos syndrome, type Xi|familial joint laxity|familial joint instability syndrome|EDS Xi|Joint instability syndrome|EDS XI											MESH:C535884|UMLS:C0268349|SCTID:71322004|GARD:0003054|OMIM:147900|Orphanet:2295|ICD10:Q79.6																		owl:Class
MONDO:0041167	biolink:NamedThing	carcinoid crisis	A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.	mondoexuq1wtf	carcinoid crisis					Editor note: consider ceding to HPO						UMLS:C0342569|SCTID:237833006																		owl:Class
MONDO:0001522	biolink:NamedThing	pyromania	A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.	mondoexuq1wtf	pathological firesetting|firesetting behavior											MESH:D005391|ICD10:F63.1|NCIT:C94334|ICD9:312.33|SCTID:600009|DOID:12402																		owl:Class
MONDO:0011602	biolink:NamedThing	autosomal recessive nonsyndromic deafness 27	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.	mondoexuq1wtf	deafness, autosomal recessive 27|autosomal recessive nonsyndromic deafness type 27|DFNB27|autosomal recessive deafness 27											DOID:0110485|MESH:C565287|OMIM:605818|UMLS:C1853941|ICD10:H90.3																		owl:Class
MONDO:0011614	biolink:NamedThing	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.	mondoexuq1wtf	Hmgcs2 deficiency|HMG CoA synthetase deficiency|HMG-CoA synthase deficiency|HMGCS2D|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|mitochondrial HMG-Coa synthase deficiency											MESH:C567784|OMIM:605911|UMLS:C2751532|SCTID:725286002|ICD10:E71.3|GARD:0002712|Orphanet:35701																		owl:Class
MONDO:0002106	biolink:NamedThing	labyrinthine unilateral reactive loss		mondoexuq1wtf	loss of labyrinthine reactivity, unilateral|unilateral loss of labyrinthine reactivity											UMLS:C0155519|ICD9:386.55|DOID:1776																		owl:Class
MONDO:0010107	biolink:NamedThing	testicular regression syndrome	Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.	mondoexuq1wtf	anorchia, familial|ETRS|TRS|testicular regression, embryonic|vanishing testis syndrome|embryonic testicular regression syndrome|XY gonadal agenesis syndrome|testicular regression syndrome|vanishing testes syndrome											MedDRA:10002641|SCTID:53599007|ICD10:Q55.0|OMIM:273250|ICD9:752.89|MESH:C537770|Orphanet:983|UMLS:C0266427																		owl:Class
MONDO:0054867	biolink:NamedThing	paraomphalocele		mondoexuq1wtf	Paraomphalocele, epigastric|Paraomphalocele, hypogastric											MESH:C537170																		owl:Class
MONDO:0007644	biolink:NamedThing	IgAD1	Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.	mondoexuq1wtf	IMMUNOGLOBULIN A deficiency 1|IgAD1|Immunoglobulin A, selective deficiency of|gamma-A-globulin, selective deficiency of|IgA, selective deficiency of											NCIT:C123434|COHD:433171|OMIM:137100|MESH:C536290																		owl:Class
MONDO:0004638	biolink:NamedThing	lymphosarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.	mondoexuq1wtf	lymphosarcoma|malignant lymphoma (category)|diffuse lymphoma											ICD9:200.7|ICD10:C85.9|SCTID:188498009|ICD9:200.1|ICD10:C85.0|ICD9:200.10|COHD:200662|NCIT:C26919|ICD9:200.0|GARD:0006946|DOID:8675														https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma				owl:Class
MONDO:0007136	biolink:NamedThing	genetic anorectal anomalies		mondoexuq1wtf	anorectal anomalies											MESH:C567938|OMIM:107100																		owl:Class
MONDO:0033646	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 12		mondoexuq1wtf	MC4DN12											OMIM:619055																		owl:Class
MONDO:0025138	biolink:NamedThing	vesicular exanthema of swine	A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.	mondoexuq1wtf	swine vesicular exanthema|swine vesicular Exanthemas											MESH:D014720|UMLS:C0042584																		owl:Class
MONDO:0001101	biolink:NamedThing	fat necrosis of breast	Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.	mondoexuq1wtf	breast fat necrosis|fat Necrosis of the breast											UMLS:C0156321|NCIT:C3661|SCTID:21381006|ICD9:611.3|DOID:10691|ICD10:N64.1|COHD:436470																		owl:Class
MONDO:0007479	biolink:NamedThing	dwarfism, Levi type		mondoexuq1wtf	dwarfism Levi's type|dwarfism, Levi type|snub-nosed type of dwarfism|dwarfism Levi type											OMIM:127100|UMLS:C1851994|MESH:C565081|GARD:0006294														https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type				owl:Class
MONDO:0010347	biolink:NamedThing	intellectual disability, X-linked 84		mondoexuq1wtf	MRX84|intellectual disability, X-linked 84|mental retardation, X-linked 84											UMLS:C1845297|MESH:C564501|OMIM:300505																		owl:Class
MONDO:0004799	biolink:NamedThing	ulcerative blepharitis		mondoexuq1wtf												DOID:9483|ICD10:H01.01|UMLS:C0155173|SCTID:91662004|ICD9:373.01|COHD:441558																		owl:Class
MONDO:0042486	biolink:NamedThing	polyposis syndrome, hereditary mixed, 1		mondoexuq1wtf	colorectal cancer, susceptibility to, on chromosome 15|colorectal cancer, susceptibility to, 4|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|polyposis syndrome, hereditary mixed, 1|HMPS1|colorectal adenoma and carcinoma 1											OMIM:601228|DOID:0111685																		owl:Class
MONDO:0020697	biolink:NamedThing	lung epithelial-myoepithelial carcinoma	A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.	mondoexuq1wtf	lung epithelial-myoepithelial cancer|lung epithelial-myoepithelial carcinoma											NCIT:C45545																		owl:Class
MONDO:0100419	biolink:NamedThing	acute myeloid leukemia, KIT exon 8 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)	mondoexuq1wtf	AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation|AML, KIT exon 8 mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation|AML, CD117 Exon 8 Mutation|AML, c-KIT Exon 8 Mutation																													owl:Class
MONDO:0019344	biolink:NamedThing	antisynthetase syndrome	Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).	mondoexuq1wtf	anti-Jo1 syndrome|AS syndrome											UMLS:C2609059|ICD10:M35.8|SCTID:445187004|ICD9:279.49|Orphanet:81|MedDRA:10068801|EFO:1001982|MESH:C537778|GARD:0000735														https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome				owl:Class
MONDO:0018669	biolink:NamedThing	snakebite envenomation		mondoexuq1wtf	snake bite poisoning|toxic effect of bite of venomous snake|snake venom causing toxic effect|poisoning by venomous snake|snake venom poisoning|poisoning caused by venomous snake											SCTID:61288004|Orphanet:449285|UMLS:CN237735|ICD10:T63.0																		owl:Class
MONDO:0023543	biolink:NamedThing	Katsantoni-Papadakou-Lagoyanni syndrome		mondoexuq1wtf	Trichodermal syndrome and mental retardation|Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and intellectual disability											GARD:0003081|UMLS:C2931394|MESH:C537012														https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome				owl:Class
MONDO:0002072	biolink:NamedThing	melanotic neuroectodermal tumor	A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.	mondoexuq1wtf	melanotic Progonoma|pigmented neuroectodermal tumour of infancy|retinal anlage neoplasm|pigmented neuroectodermal tumor|infantile melanotic neuroectodermal neoplasm|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|MNTI|melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor (morphologic abnormality)											UMLS:C0206094|DOID:166|SCTID:404042005|NCIT:C3717|MESH:D017600|ICDO:9363/0|EFO:1001038																		owl:Class
MONDO:0006139	biolink:NamedThing	cervical metaplasia	Metaplastic changes in the cervical glandular or squamous epithelium.	mondoexuq1wtf												UMLS:C0281796|EFO:1000168																		owl:Class
MONDO:0022644	biolink:NamedThing	cardiac hydatid cysts with intracavitary expansion		mondoexuq1wtf	Cardiac hydatidosis											GARD:0000199														https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion				owl:Class
MONDO:0026721	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 30		mondoexuq1wtf	MC1DN30|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30											OMIM:301021																		owl:Class
MONDO:0009684	biolink:NamedThing	muscular hypertonia, lethal		mondoexuq1wtf	muscular hypertonia, lethal											OMIM:254120|MESH:C564982|UMLS:C1850827																		owl:Class
MONDO:0009729	biolink:NamedThing	nephropathy - deafness - hyperparathyroidism syndrome	Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.	mondoexuq1wtf	Edwards-Patton-Dilly syndrome|Edwards Patton Dilly syndrome|nephropathy - deafness - hyperparathyroidism|nephropathy, deafness, and hyperparathyroidism											GARD:0003940|SCTID:724093004|MESH:C536401|ICD10:Q87.8|OMIM:256120|UMLS:C1850553|Orphanet:2668														https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism				owl:Class
MONDO:0015443	biolink:NamedThing	chromosome 8-derived supernumerary ring/marker	Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	mondoexuq1wtf	ring chromosome 8|r(8) syndrome|R8|rose cluster 8|supernumerary ring/marker 8|chromosome 8 ring|Ring 8|Ring chromosome 8 syndrome											SCTID:715983001|GTR:AN0101480|MESH:C537824|Orphanet:1450|GARD:0001347|ICD10:Q93.2|GTR:AN0101479|UMLS:CN036129|NCIT:C121988																		owl:Class
MONDO:0010087	biolink:NamedThing	Sugarman brachydactyly	Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.	mondoexuq1wtf	Sugarman brachydactyly|Sugarman-Hager-Kulik syndrome|brachydactyly with major proximal phalangeal shortening|brachydactyly of the hands and feet with duplication of the first toes|brachydactyly with Major proximal phalangeal shortening											GARD:0005058|DOID:0110979|OMIM:272150|Orphanet:498602														https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly				owl:Class
MONDO:0032940	biolink:NamedThing	retinitis pigmentosa 88		mondoexuq1wtf	RETINITIS PIGMENTOSA 88|RP88											OMIM:618826																		owl:Class
MONDO:0019093	biolink:NamedThing	immunodeficiency due to selective anti-polysaccharide antibody deficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).	mondoexuq1wtf	specific antibody deficiency											UMLS:C0398711|GARD:0011903|ICD10:D80.8|Orphanet:70593|SCTID:234556002																		owl:Class
MONDO:0020452	biolink:NamedThing	inferior vena cava interruption		mondoexuq1wtf	IVC interruption|Inferior caval vein interruption											ICD10:Q26.8|SCTID:93031005|ICD9:747.49|Orphanet:99123																		owl:Class
MONDO:0030042	biolink:NamedThing	proteinuria, chronic benign		mondoexuq1wtf	PROTEINURIA, CHRONIC BENIGN|PROCHOB|proteinuria, chronic benign											OMIM:618884																		owl:Class
MONDO:0044700	biolink:NamedThing	SIN3A-related intellectual disability syndrome due to a point mutation		mondoexuq1wtf												Orphanet:500166																		owl:Class
MONDO:0009236	biolink:NamedThing	Kandori fleck retina	Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	mondoexuq1wtf	FLECK retina of KANDORI											UMLS:C0271257|SCTID:765191009|OMIM:228990|Orphanet:99179|MESH:C562701|ICD10:H35.5																		owl:Class
MONDO:0013526	biolink:NamedThing	progressive myoclonic epilepsy type 6	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.	mondoexuq1wtf	GOSR2-related progressive myoclonus ataxia|PME type 6|progressive myoclonus epilepsy type 6|North Sea progressive myoclonus epilepsy|epilepsy, progressive myoclonic, type 6|epilepsy, progressive myoclonic, 6|progressive myoclonic epilepsy caused by mutation in GOSR2|EPM6|GOSR2 progressive myoclonic epilepsy											GARD:0003872|DOID:0111449|Orphanet:280620|UMLS:C3279627|ICD10:G40.3|OMIM:614018																		owl:Class
MONDO:0044644	biolink:NamedThing	congenital agenesis of the scrotum		mondoexuq1wtf	congenital scrotal absence|congenital scrotal agenesis|congenital absence of the scrotum											Orphanet:495879																		owl:Class
MONDO:0009713	biolink:NamedThing	myopia 18, autosomal recessive		mondoexuq1wtf	myopia 18, autosomal recessive|MYP18											OMIM:255500|UMLS:C2749509|MESH:C567606																		owl:Class
MONDO:0001306	biolink:NamedThing	recurrent corneal erosion		mondoexuq1wtf	recurrent erosion syndrome|recurrent erosion of cornea					Editor note: consider obsoleting as is a finding						ICD9:371.42|DOID:11541|COHD:374946|SCTID:2055003|HP:0000495|UMLS:C0155119|ICD10:H18.83																		owl:Class
MONDO:0007532	biolink:NamedThing	Electroencephalographic peculiarity: occipital slow beta waves		mondoexuq1wtf	Electroencephalographic peculiarity: occipital slow beta waves											OMIM:130400																		owl:Class
MONDO:0013136	biolink:NamedThing	hereditary hypotrichosis with recurrent skin vesicles	Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.	mondoexuq1wtf	hypotrichosis and recurrent skin vesicles											SCTID:724350009|Orphanet:217407|UMLS:C2751292|MESH:C567751|OMIM:613102																		owl:Class
MONDO:0017525	biolink:NamedThing	polydactyly of a triphalangeal thumb, unilateral		mondoexuq1wtf	preaxial polydactyly type 2, unilateral|unilateral PPD2											UMLS:CN203256|ICD10:Q69.1|Orphanet:295148																		owl:Class
MONDO:0013997	biolink:NamedThing	focal facial dermal dysplasia type IV	Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.	mondoexuq1wtf	focal facial preauricular dysplasia|focal Facial dermal dysplasia type 4|focal facial dermal dysplasia 4|FFDD type IV|FFDD4											Orphanet:398189|UMLS:C3554246|OMIM:614974|ICD10:Q82.8																		owl:Class
MONDO:0022504	biolink:NamedThing	arthrogryposis spinal muscular atrophy		mondoexuq1wtf												GARD:0000795														https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy				owl:Class
MONDO:0001484	biolink:NamedThing	paranoid schizophrenia	A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.	mondoexuq1wtf	paranoid type schizophrenia subchronic state|chronic paranoid schizophrenia|paranoid type schizophrenia|paraphrenic schizophrenia|paraphrenia - late											ICD9:295.30|ICD9:295.3|ICD9:295.32|MESH:D012563|ICD10:F20.0|ICD9:295.31|NCIT:C35006|SCTID:31658008|DOID:1229|COHD:433450																		owl:Class
MONDO:0008164	biolink:NamedThing	otosclerosis 1		mondoexuq1wtf	OTS|otosclerosis 1|OTSC1											UMLS:CN032031|OMIM:166800																		owl:Class
MONDO:0024485	biolink:NamedThing	papillary urothelial hyperplasia	A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003	mondoexuq1wtf	papillary urothelial hyperplasia											NCIT:C27879																		owl:Class
MONDO:0001335	biolink:NamedThing	hypotrichosis of eyelid	A hypotrichosis that involves the eyelid.	mondoexuq1wtf	eyelid hypotrichosis											SCTID:70738004|ICD10:H02.72|ICD9:374.55|DOID:11671|UMLS:C0155214																		owl:Class
MONDO:0015681	biolink:NamedThing	childhood disintegrative disorder	Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.	mondoexuq1wtf	heller syndrome|dementia infantilis											MedDRA:10008522|ICD10:F84.3|Orphanet:168782|COHD:441535|NCIT:C97164|SCTID:71961003|GARD:0006040|UMLS:C0236791|UMLS:CN072151														https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder				owl:Class
MONDO:0012063	biolink:NamedThing	ulnar/fibula ray defect-brachydactyly syndrome	Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	mondoexuq1wtf	ulnar/fibular RAY defect and brachydactyly|Morava-Mehes syndrome											ICD10:Q73.8|Orphanet:52056|SCTID:719843001|MESH:C563905|OMIM:608571																		owl:Class
MONDO:0030902	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 36		mondoexuq1wtf	mitochondrial complex 1 deficiency, nuclear type 36|MC1DN36											OMIM:619170																		owl:Class
MONDO:0001122	biolink:NamedThing	chronic maxillary sinusitis	Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	mondoexuq1wtf	chronic antritis|maxillary sinusitis, chronic											ICD9:473.0|COHD:134668|UMLS:C0008698|NCIT:C34477|DOID:10792|ICD10:J32.0|SCTID:35923002																		owl:Class
MONDO:0018023	biolink:NamedThing	hemoglobin M disease		mondoexuq1wtf	autosomal dominant methemoglobinemia|blue baby syndrome|M hemoglobinopathy|methemoglobinemia, beta-globin type|hereditary methemoglobinemia due to hemoglobin mutation											OMIM:617971|UMLS:CN204238|UMLS:C3665425|ICD10:D74.0|SCTID:74912001|Orphanet:330041|GARD:0013007|MESH:C581942																		owl:Class
MONDO:0021035	biolink:NamedThing	alopecia-intellectual disability syndrome 1		mondoexuq1wtf	alopecia-intellectual disability syndrome 1|APMR1|APMR|alopecia-mental retardation syndrome 1											UMLS:C1859878|DOID:0080628|OMIM:203650																		owl:Class
MONDO:0012618	biolink:NamedThing	intellectual disability, autosomal recessive 10		mondoexuq1wtf	mental retardation, autosomal recessive 20|intellectual disability, autosomal recessive 20|mental retardation, autosomal recessive 10|intellectual disability, autosomal recessive 10|MRT10											MESH:C567013|OMIM:611096|UMLS:C1970194																		owl:Class
MONDO:0012021	biolink:NamedThing	myopia 17, autosomal dominant		mondoexuq1wtf	myopia 4, formerly|MYP17|myopia 4|myopia 17, autosomal dominant											OMIM:608367|UMLS:C3888211																		owl:Class
MONDO:0003347	biolink:NamedThing	inflammatory leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.	mondoexuq1wtf	inflammatory leiomyosarcoma											DOID:5251|UMLS:C1334179|NCIT:C27495																		owl:Class
MONDO:0019317	biolink:NamedThing	follicular atrophoderma-basal cell carcinoma		mondoexuq1wtf												Orphanet:79459|UMLS:CN205972|ICD10:L98.8																		owl:Class
MONDO:0003647	biolink:NamedThing	atrophic flaccid tympanic membrane		mondoexuq1wtf												SCTID:38645004|ICD9:384.81|UMLS:C0155470|DOID:5781|ICD10:H73.81																		owl:Class
MONDO:0033558	biolink:NamedThing	autoinflammation, immune dysregulation, and eosinophilia		mondoexuq1wtf	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA|AIIDE|Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia											OMIM:618999																		owl:Class
MONDO:0005640	biolink:NamedThing	akinetic mutism	A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)	mondoexuq1wtf	Coma vigilans (finding)|Coma vigilans											UMLS:C0001889|EFO:0007138|DOID:4267|SCTID:53333005|MESH:D000405																		owl:Class
MONDO:0012583	biolink:NamedThing	tooth agenesis, selective, 5		mondoexuq1wtf	tooth agenesis, selective, 5|he-Zhao deficiency|STHAG5|hypodontia/oligodontia 5											OMIM:610926|UMLS:C1858210|MESH:C565757																		owl:Class
MONDO:0013305	biolink:NamedThing	autosomal dominant nonsyndromic deafness 51	An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.	mondoexuq1wtf	autosomal dominant deafness 51|DFNA51|deafness, autosomal dominant 51|chromosome 9Q21.11 Duplication syndrome|deafness, autosomal dominant type 51|autosomal dominant nonsyndromic deafness type 51|chromosome 9q21.11 duplication syndrome											UMLS:C3160736|ICD10:H90.3|OMIM:613558|DOID:0110577																		owl:Class
MONDO:0044690	biolink:NamedThing	optic perineuritis		mondoexuq1wtf	OPN											Orphanet:499107|UMLS:C4076165|SCTID:713417000																		owl:Class
MONDO:0011870	biolink:NamedThing	annular epidermolytic ichthyosis	Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	mondoexuq1wtf	ichthyosis, cyclic, with epidermolytic hyperkeratosis|AEI|Ciehk|epidermolytic ichthyosis, annular											SCTID:718631006|OMIM:607602|UMLS:C1843463|ICD10:Q80.3|MESH:C564367|Orphanet:281139																		owl:Class
MONDO:0013708	biolink:NamedThing	intellectual disability, autosomal recessive 25		mondoexuq1wtf	mental retardation, autosomal recessive 25|intellectual disability, autosomal recessive 25|MRT25											OMIM:614346|UMLS:C3280544																		owl:Class
MONDO:0054728	biolink:NamedThing	spermatogenic failure 24		mondoexuq1wtf	spermatogenic failure 24|SPGF24											UMLS:CN244570|OMIM:617959																		owl:Class
MONDO:0022462	biolink:NamedThing	anophthalmia esophageal atresia cryptorchidism	A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism.	mondoexuq1wtf												GARD:0000716														https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism				owl:Class
MONDO:0006123	biolink:NamedThing	cardiac rhabdomyoma	A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.	mondoexuq1wtf	rhabdomyoma of the heart|cardiac rhabdomyoma (disease)|heart rhabdomyoma|cardiac rhabdomyoma|rhabdomyoma of heart		cardiac rhabdomyoma (disease)									HP:0009729|NCIT:C6739|EFO:1000150|UMLS:C1332852																		owl:Class
MONDO:0002931	biolink:NamedThing	conjunctivochalasis		mondoexuq1wtf												ICD9:372.81|DOID:4250|COHD:375817|ICD10:H11.82|SCTID:408663001|UMLS:C0878693																		owl:Class
MONDO:0016251	biolink:NamedThing	salivary gland type cancer of the breast	Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.	mondoexuq1wtf	salivary gland type carcinoma of the breast					Editor note: consider merging with mammary adenoid cystic carcinoma						ICD10:C50.1|ICD10:C50.3|SCTID:716593008|ICD10:C50.0|ICD10:C50.5|ICD10:C50.4|ICD10:C50.2|ICD10:C50.8|ICD10:C50.6|Orphanet:213557|GARD:0012774														https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast				owl:Class
MONDO:0007423	biolink:NamedThing	deafness, mid-tone neural		mondoexuq1wtf	deafness, mid-tone neural											OMIM:124700|UMLS:C1852283|MESH:C565122																		owl:Class
MONDO:0009321	biolink:NamedThing	hallux varus-preaxial polysyndactyly syndrome	Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	mondoexuq1wtf	hallux varus and preaxial polysyndactyly|Kleiner-Holmes syndrome|Kleiner Holmes syndrome											GARD:0003118|UMLS:C1856197|ICD10:Q74.2|Orphanet:2110|OMIM:234280|MESH:C536885																		owl:Class
MONDO:0014600	biolink:NamedThing	dyskeratosis congenita, autosomal recessive 6	Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.	mondoexuq1wtf	dyskeratosis congenita, autosomal recessive 6|dyskeratosis congenita caused by mutation in PARN|dyskeratosis congenita, autosomal recessive type 6|autosomal recessive dyskeratosis congenita 6|PARN dyskeratosis congenita|DKCB6											DOID:0070024|UMLS:C4225356|OMIM:616353																		owl:Class
MONDO:0022178	biolink:NamedThing	chromosome 13q-mosaicism		mondoexuq1wtf	Mosiacism of chromosome 13q											UMLS:CN037259|MESH:C535486																		owl:Class
MONDO:0022746	biolink:NamedThing	chromosome 13p duplication		mondoexuq1wtf	chromosome 13p, trisomy|Duplication 13p|trisomy 13p											UMLS:CN037021|MESH:C535450																		owl:Class
MONDO:0100424	biolink:NamedThing	acute myeloid leukemia, NRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)	mondoexuq1wtf	AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation|AML, NRAS gene mutation|AML, N-RAS Gene Mutation																													owl:Class
MONDO:0007865	biolink:NamedThing	knuckle pads		mondoexuq1wtf	knuckle pads											ICD10:M72.1|SCTID:16687001|ICD9:728.79|UMLS:C0264000|OMIM:149100																		owl:Class
MONDO:0019321	biolink:NamedThing	atypical Werner syndrome	A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.	mondoexuq1wtf	atypical progeroid syndrome											Orphanet:79474|UMLS:C4275075|ICD10:E34.8|UMLS:CN205977|GARD:0011910|SCTID:715633008														https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome				owl:Class
MONDO:0032599	biolink:NamedThing	immunodeficiency 15a		mondoexuq1wtf	IMMUNODEFICIENCY 15A|IMD15A											OMIM:618204																		owl:Class
MONDO:0010146	biolink:NamedThing	Kerion celsi	A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.	mondoexuq1wtf	Trichophyton infection|trichophytia profunda capitis|susceptibility to Tinea imbricata|TINEA imbricata, susceptibility to|Tinea capitis profunda|trichophytia profunda barbae											SCTID:19087001|GARD:0003109|UMLS:C0276742|ICD10:B35.0|OMIM:275240|Orphanet:499														https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi				owl:Class
MONDO:0002128	biolink:NamedThing	mononeuritis multiplex	A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.	mondoexuq1wtf	mononeuritis multiplex											SCTID:30292005|GARD:0007056|DOID:1835|UMLS:C0151295|ICD10:G58.7|COHD:376395|ICD9:354.5|NCIT:C70938														https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex				owl:Class
MONDO:0005603	biolink:NamedThing	pancreatic tubular adenocarcinoma	A tubular adenocarcinoma that involves the pancreas.	mondoexuq1wtf	pancreas tubular adenocarcinoma											EFO:0006471																		owl:Class
MONDO:0009638	biolink:NamedThing	mitochondrial myopathy with a defect in mitochondrial-protein transport		mondoexuq1wtf	mitochondrial myopathy with a defect in mitochondrial-protein transport											OMIM:251945|UMLS:C1855034|MESH:C565376																		owl:Class
MONDO:0011531	biolink:NamedThing	Noonan syndrome 2		mondoexuq1wtf	Noonan syndrome type 2|NS2|Noonan syndrome, autosomal recessive|autosomal recessive Noonan syndrome|Noonan syndrome 2|Noonan syndrome autosomal recessive											GARD:0010698|UMLS:C1854469|OMIM:605275|MESH:C548081|DOID:0060580														https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2				owl:Class
MONDO:0015810	biolink:NamedThing	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma		mondoexuq1wtf												ICD10:C84.4|Orphanet:178522																		owl:Class
MONDO:0014202	biolink:NamedThing	primary ciliary dyskinesia 24	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.	mondoexuq1wtf	CILD24|primary ciliary dyskinesia 24 without situs inversus|primary ciliary dyskinesia type 24|ciliary dyskinesia, primary, 24|ciliary dyskinesia, primary, type 24|ciliary dyskinesia, primary, 24, without situs inversus|RSPH1 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in RSPH1											UMLS:C3809634|DOID:0110628|ICD10:Q34.8|OMIM:615481																		owl:Class
MONDO:0042726	biolink:NamedThing	macrogyria, pseudobulbar palsy and intellectual disability		mondoexuq1wtf	Kuzniecky Andermann syndrome											MESH:C537722|UMLS:C2931598|GARD:0000174																		owl:Class
MONDO:0001772	biolink:NamedThing	ulcer of anus and rectum		mondoexuq1wtf	anal and rectal ulcer											DOID:13662|ICD10:K62.6|ICD9:569.41																		owl:Class
MONDO:0004562	biolink:NamedThing	breast apocrine carcinoma in situ	A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.	mondoexuq1wtf	apocrine carcinoma in situ of the breast|apocrine carcinoma in situ of breast|apocrine breast carcinoma in situ											DOID:8428|UMLS:C1332315|NCIT:C5140																		owl:Class
MONDO:0014146	biolink:NamedThing	autosomal dominant hypocalcemia 2	An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	mondoexuq1wtf	hypocalcemia, autosomal dominant 2|autosomal dominant hypocalcemia type 2|hypocalcemia, autosomal dominant type 2|HYPOC2											UMLS:C3809243|DOID:0090108|OMIM:615361																		owl:Class
MONDO:0007844	biolink:NamedThing	hypogonadotropic hypogonadism 2 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.	mondoexuq1wtf	KAL2|HH2|hypogonadotropic hypogonadism caused by mutation in FGFR1|Kallmann syndrome 2|FGFR1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 2 with or without anosmia											UMLS:C1563720|ICD10:E23.0|DOID:0090083|OMIM:147950|GARD:0003070																		owl:Class
MONDO:0010296	biolink:NamedThing	immunodeficiency 61		mondoexuq1wtf	agammaglobulinemia X-linked type 2|XLA2|AGMX2|agammaglobulinemia, X-linked, type 2											UMLS:C1845903|GARD:0010007|MESH:C538057|OMIM:300310																		owl:Class
MONDO:0003469	biolink:NamedThing	epithelioid cell synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.	mondoexuq1wtf	epithelial sarcoma of synovium|synovial sarcoma, epithelioid cell|epithelial synovial sarcoma|epithelioid synovial sarcoma|epithelioid cell sarcoma of the synovium|epithelioid cell sarcoma of synovium|epithelial sarcoma of the synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)											NCIT:C4278|UMLS:C0334506|DOID:5494|ICDO:9042/3																		owl:Class
MONDO:0001725	biolink:NamedThing	balanitis xerotica obliterans	A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.	mondoexuq1wtf	penile lichen Sclerosus|lichen Sclerosus of the penis|lichen Sclerosus of penis											NCIT:C3523|COHD:141917|DOID:13477|UMLS:C0152460|ICD9:607.81|SCTID:198033005																		owl:Class
MONDO:0003971	biolink:NamedThing	gastric pylorus carcinoma	A carcinoma that arises from the pylorus.	mondoexuq1wtf	cancer of gastric pylorus|carcinoma of pylorus of stomach|cancer of the gastric pylorus|carcinoma of the gastric pylorus|carcinoma of gastric pylorus|cancer of pylorus of stomach|gastric pylorus carcinoma|gastric pylorus (stomach) cancer|carcinoma of the pylorus of the stomach|gastric pylorus cancer|cancer of the pylorus of the stomach											UMLS:C1333787|NCIT:C6795|DOID:6703																		owl:Class
MONDO:0032678	biolink:NamedThing	developmental and epileptic encephalopathy, 71		mondoexuq1wtf	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71|Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|epileptic encephalopathy, early infantile, 71|DEE71|EIEE71											OMIM:618328																		owl:Class
MONDO:0024376	biolink:NamedThing	sleep disorder, initiating and maintaining sleep		mondoexuq1wtf	disorders of initiating and maintaining sleep											SCTID:194437008																		owl:Class
MONDO:0006408	biolink:NamedThing	sex hormone-producing adrenal cortex adenoma	A rare adenoma of the adrenal cortex that produces androgens or estrogens.	mondoexuq1wtf	Sex hormone producing adrenal cortex adenoma|Sex hormone producing adrenal cortical adenoma											UMLS:C1710067|NCIT:C48452|EFO:1000523																		owl:Class
MONDO:0001210	biolink:NamedThing	enophthalmos	Abnormal recession of the eyeball within the eye socket.	mondoexuq1wtf	enophthalmos (disease)|enophthalmos		enophthalmos (disease)									ICD9:376.5|MESH:D015841|SCTID:80093006|ICD9:376.50|DOID:11175|COHD:436986|HP:0000490|UMLS:C0014306|ICD10:H05.40|ICD10:H05.4																		owl:Class
MONDO:0033092	biolink:NamedThing	ichthyosis, congenital, autosomal recessive 13		mondoexuq1wtf	ARCI13|ichthyosis, congenital, autosomal recessive 13|autosomal recessive congenital ichthyosis 13											UMLS:CN321864|OMIM:617574|DOID:0080257																		owl:Class
MONDO:0014802	biolink:NamedThing	Cowden syndrome 7	Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.	mondoexuq1wtf	Cowden syndrome 7|Cowden syndrome type 7|CWS7|SEC23B Cowden disease|Cowden disease caused by mutation in SEC23B											OMIM:616858|UMLS:C4225179																		owl:Class
MONDO:0013632	biolink:NamedThing	autosomal dominant nonsyndromic deafness 33	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.	mondoexuq1wtf	autosomal dominant deafness 33|deafness, autosomal dominant 33|DFNA33|autosomal dominant nonsyndromic deafness type 33											DOID:0110562|ICD10:H90.3|OMIM:614211																		owl:Class
MONDO:0008672	biolink:NamedThing	Watson syndrome	Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.	mondoexuq1wtf	cafe-Au-lait Spots with pulmonic stenosis|Watson syndrome|WTSN|pulmonic stenosis with cafe-Au-lait Spots											GARD:0005540|UMLS:CN204429|ICD9:709.8|SCTID:403820003|Orphanet:3444|OMIM:193520														https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome				owl:Class
MONDO:0033671	biolink:NamedThing	spermatogenic failure 45		mondoexuq1wtf	SPGF45											OMIM:619094																		owl:Class
MONDO:0009436	biolink:NamedThing	congenital hypothalamic hamartoma syndrome	Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.	mondoexuq1wtf	hamartoma of the hypothalamus|hypothalamic hamartoma|congenital hypothalamic hamartoma syndrome|hamartoma of hypothalamus|hypothalamic hamartomas					Editor note: obsoleted in ORDO						MESH:C537158|SCTID:237714006|OMIM:241800|Orphanet:2113|NCIT:C4385|GARD:0002934|ICD9:759.6														https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas				owl:Class
MONDO:0060527	biolink:NamedThing	maleylacetoacetate isomerase deficiency		mondoexuq1wtf	MAAI deficiency|hypersuccinylacetonemia, mild|benign hypersuccinylacetonemia|maleylacetoacetate isomerase deficiency|MAAID											UMLS:C1291607|OMIM:617596																		owl:Class
MONDO:0017596	biolink:NamedThing	diffuse large B-cell lymphoma of the central nervous system	A diffuse large B-cell lymphoma arising from the central nervous system.	mondoexuq1wtf	CNS DLBCL|primary diffuse large B-cell lymphoma of the central nervous system|central nervous system diffuse large B-cell lymphoma|primary DLBCL of the CNS|DLBCL of the CNS|diffuse large B-cell lymphoma of central nervous system											ICDO:9680/3|NCIT:C71720|ICD10:C83.3|Orphanet:300849|SCTID:734066005|UMLS:C2026186																		owl:Class
MONDO:0009942	biolink:NamedThing	pyknoachondrogenesis	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	mondoexuq1wtf	association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|pyknoachondrogenesis|camera syndrome											SCTID:719258003|MESH:C536251|OMIM:265880|Orphanet:3003|ICD10:Q78.8|GARD:0004610|UMLS:C1849523														https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis				owl:Class
MONDO:0044141	biolink:NamedThing	panic disorder without agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.	mondoexuq1wtf	panic disorder without agoraphobia											NCIT:C97193|EFO:1001906|SCTID:56576003																		owl:Class
MONDO:0015539	biolink:NamedThing	progressive nodular histiocytosis	Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	mondoexuq1wtf												Orphanet:158022|SCTID:765141005|ICD10:D76.3																		owl:Class
MONDO:0008385	biolink:NamedThing	rhiny		mondoexuq1wtf	craniorhiny|rhiny											OMIM:180360|MESH:C566708																		owl:Class
MONDO:0000663	biolink:NamedThing	anosognosia	An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.	mondoexuq1wtf												DOID:0060133																		owl:Class
MONDO:0032642	biolink:NamedThing	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		mondoexuq1wtf	ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|ACCIID											OMIM:618265|Orphanet:565858																		owl:Class
MONDO:0023111	biolink:NamedThing	familial capillaro-venous leptomeningeal angiomatosis		mondoexuq1wtf												UMLS:C2931262|GARD:0009423|MESH:C536609														https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis				owl:Class
MONDO:0008361	biolink:NamedThing	radius, aplasia of, with cleft lip/palate		mondoexuq1wtf	radius, aplasia of, with cleft lip/palate											OMIM:179400|UMLS:C1867395																		owl:Class
MONDO:0019930	biolink:NamedThing	Leydig cell hypoplasia due to complete LH resistance		mondoexuq1wtf	46,XY disorder of sex development due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete LH receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance|46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY DSD due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH resistance|46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete luteinizing hormone resistance											UMLS:CN206847|ICD10:Q56.1|Orphanet:96265																		owl:Class
MONDO:0015544	biolink:NamedThing	acquired hemophagocytic lymphohistiocytosis associated with malignant disease		mondoexuq1wtf												UMLS:CN199702|Orphanet:158057																		owl:Class
MONDO:0008418	biolink:NamedThing	scleroderma, familial progressive		mondoexuq1wtf	systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive											UMLS:C1866983|OMIM:181750																		owl:Class
MONDO:0010721	biolink:NamedThing	reticuloendotheliosis, X-linked		mondoexuq1wtf	reticuloendotheliosis, X-linked|reticuloendotheliosis											MESH:C538362|GARD:0007559|OMIM:312500|UMLS:C0035288																		owl:Class
MONDO:0008120	biolink:NamedThing	spinocerebellar ataxia type 7	Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.	mondoexuq1wtf	ataxia with pigmentary retinopathy|OPCA with retinal Degeneration|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|OPCA with macular Degeneration and external ophthalmoplegia|autosomal dominant cerebellar ataxia, type 2|SCA7|OPCA3|spinocerebellar ataxia type 7|Adca, type 2|OPCA 3|spinocerebellar ataxia 7|OPCA III|ATXN7 autosomal dominant cerebellar ataxia type II|ADCA, type II|cerebellar syndrome-pigmentary maculopathy syndrome|olivopontocerebellar atrophy 3											Orphanet:94147|DOID:0050958|OMIM:164500|ICD10:G11.8|UMLS:C0752125|SCTID:715726000|GARD:0004955|NCIT:C126562																		owl:Class
MONDO:0016163	biolink:NamedThing	autosomal dominant cerebellar ataxia type II		mondoexuq1wtf	ADCAII|ADCA2|autosomal dominant cerebellar ataxia type 2|autosomal dominant cerebellar ataxia type II											UMLS:CN229031|Orphanet:208508																		owl:Class
MONDO:0005272	biolink:NamedThing	refractory anemia	A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)	mondoexuq1wtf	RA|aregenerative anemia											SCTID:109996008|ICD10:D46.7|UMLS:C0002893|ICDO:9980/3|MESH:D000753|MedDRA:10038269|Orphanet:98826|EFO:0003802|NCIT:C2872|ICD9:238.72																		owl:Class
MONDO:0020459	biolink:NamedThing	unstable hemoglobin disease		mondoexuq1wtf												UMLS:C0272006|ICD9:282.7|SCTID:18273004|Orphanet:99139																		owl:Class
MONDO:0054726	biolink:NamedThing	spermatogenic failure 22		mondoexuq1wtf	SPGF22|spermatogenic failure 22											DOID:0070177|OMIM:617706																		owl:Class
MONDO:0007551	biolink:NamedThing	localized epidermolysis bullosa simplex	Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.	mondoexuq1wtf	epidermolysis bullosa simplex, localized|epidermolysis bullosa of hands and feet|Weber-Cockayne syndrome|Weber-Cockayne type epidermolysis bullosa simplex|epidermolysis bullosa simplex of palms and soles|EBS, acral form|epidermolysis bullosa simplex, Weber-Cockayne type|EBS-loc											OMIM:131800|Orphanet:79400|ICD10:Q81.0|SCTID:294705005|GARD:0002146|ICD9:757.39|DOID:0080510														https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized				owl:Class
MONDO:0021133	biolink:NamedThing	acquired factor XIII deficiency	An acquired coagulation disorder due to reduced levels and activity of factor XIII.	mondoexuq1wtf	acquired factor XIII deficiency											NCIT:C131629|UMLS:C0238120																		owl:Class
MONDO:0008985	biolink:NamedThing	ciliary dyskinesia with transposition of ciliary microtubules		mondoexuq1wtf	ciliary dyskinesia with transposition of ciliary microtubules|ciliary dyskinesia, due to transposition of ciliary microtubules											OMIM:215520|GARD:0001361|MESH:C567137|UMLS:C2673817																		owl:Class
MONDO:0030069	biolink:NamedThing	hyper-IgE recurrent infection syndrome 5, autosomal recessive		mondoexuq1wtf	hyper-IgE recurrent infection syndrome 5, autosomal recessive|HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE|HIES5											OMIM:618944																		owl:Class
MONDO:0006065	biolink:NamedThing	lactose intolerance adult type	Adult onset lactose intolerance	mondoexuq1wtf	disaccharide intolerance 3|hypolactasia, adult type|adult lactase deficiency|lactose intolerance, ADULT type											OMIM:223100|EFO:1000063																		owl:Class
MONDO:0004755	biolink:NamedThing	monieziasis	Infection of ruminants with tapeworms of the genus Moniezia.	mondoexuq1wtf												DOID:931|MESH:D008989|EFO:1001372|UMLS:C0026414																		owl:Class
MONDO:0011647	biolink:NamedThing	Alzheimer disease 7	An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.	mondoexuq1wtf	Alzheimer's disease type 7|Alzheimer disease, familial, 7|Alzheimer disease, familial 7|Alzheimer's disease 7|Alzheimer disease 7|AD7|Ad7|Alzheimer disease type 7											UMLS:C1853555|MESH:C565251|OMIM:606187|ICD10:G30|DOID:0110039																		owl:Class
MONDO:0008141	biolink:NamedThing	ossicular malformations, familial		mondoexuq1wtf	familial middle ear ossicular anomalies|ossicular malformations, familial|familial ossicular malformations											UMLS:C1833790|GARD:0008184|MESH:C537142|OMIM:165680														https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial				owl:Class
MONDO:0019772	biolink:NamedThing	blepharospasm-oromandibular dystonia syndrome	Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.	mondoexuq1wtf	Meige syndrome|Brueghel syndrome|blepharospasm-oromandibular dystonia|segmental cranial dystonia|Meige's syndrome|oral facial dystonia|Meige dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome|blepharospasm - oromandibular dystonia											Orphanet:93964|ICD10:G24.8|MESH:D008538|DOID:3982|GARD:0007008|SCTID:230325003																		owl:Class
MONDO:0032584	biolink:NamedThing	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		mondoexuq1wtf	ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS|ECTD14											OMIM:618180|DOID:0111662																		owl:Class
MONDO:0006791	biolink:NamedThing	hyperemesis gravidarum	Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.	mondoexuq1wtf	pregnancy pernicious vomiting|hyperemesis gravidarum|pernicious vomiting of pregnancy|hyperemesis gravidarum (disease)		hyperemesis gravidarum (disease)									SCTID:14094001|EFO:1000971|MESH:D006939|MedDRA:10020614|HP:0012188																		owl:Class
MONDO:0018281	biolink:NamedThing	congenital muscular dystrophy with hyperlaxity	Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.	mondoexuq1wtf	CMDH											Orphanet:371007|ICD10:G71.2|SCTID:763314009																		owl:Class
MONDO:0026729	biolink:NamedThing	congenital disorder of glycosylation, type ICC		mondoexuq1wtf	CDG1CC|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc											OMIM:301031																		owl:Class
MONDO:0100015	biolink:NamedThing	adult-onset segmental dystonia		mondoexuq1wtf	DYT-GNAL|an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).				2018-05-25 20:41:39+00:00																									owl:Class
MONDO:0001533	biolink:NamedThing	pes anserinus tendinitis or bursitis		mondoexuq1wtf												DOID:12475|ICD9:726.61																		owl:Class
MONDO:0017564	biolink:NamedThing	macrodactyly of fingers, unilateral		mondoexuq1wtf	macrodactyly of hand, unilateral											Orphanet:295239|ICD10:Q74.0																		owl:Class
MONDO:0032759	biolink:NamedThing	intellectual developmental disorder with short stature and variable skeletal anomalies		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES|IDDSSA											OMIM:618453																		owl:Class
MONDO:0054588	biolink:NamedThing	Noonan syndrome-like disorder with loose anagen hair 2		mondoexuq1wtf	NSLH2|Noonan syndrome-like disorder with loose anagen hair 2											OMIM:617506																		owl:Class
MONDO:0015387	biolink:NamedThing	nasolacrimal duct cyst	Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	mondoexuq1wtf	dacryocele|nasolacrimal mucocele|dacryocystocele											Orphanet:141083|ICD10:H04.6																		owl:Class
MONDO:0005531	biolink:NamedThing	morphine dependence	Strong dependence, both physiological and emotional, upon morphine.	mondoexuq1wtf												SCTID:231479000|MESH:D009021|EFO:0005612|DOID:2560																		owl:Class
MONDO:0024251	biolink:NamedThing	Minamata disease	A neurological syndrome caused by severe mercury poisoning.	mondoexuq1wtf	Chisso-Minamata disease											UMLS:CN200665|SCTID:39640004																		owl:Class
MONDO:0007936	biolink:NamedThing	macular dystrophy, fenestrated sheen type		mondoexuq1wtf	macular dystrophy, fenestrated sheen type											OMIM:153890|UMLS:C1835173|MESH:C563607																		owl:Class
MONDO:0010154	biolink:NamedThing	trigonocephaly-bifid nose-acral anomalies syndrome	Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.	mondoexuq1wtf	trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet											GARD:0005277|ICD10:Q87.0|MESH:C564759|Orphanet:3368|OMIM:275595|GARD:0005126|UMLS:C1848743																		owl:Class
MONDO:0019419	biolink:NamedThing	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.	mondoexuq1wtf	Johnson syndrome											ICD10:Q87.8|SCTID:719825000|Orphanet:85320|UMLS:CN206174																		owl:Class
MONDO:0012755	biolink:NamedThing	episodic ataxia type 7	Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.	mondoexuq1wtf	EA7|episodic ataxia, type 7											MESH:C567459|UMLS:C2677843|SCTID:718752007|ICD10:G11.8|Orphanet:209970|DOID:0050995|OMIM:611907																		owl:Class
MONDO:0006560	biolink:NamedThing	hypohidrosis	Reduced sweating. Causes include burns, dehydration, radiation, and leprosy.	mondoexuq1wtf	Oligohidrosis					Editor note: consider obsoleting						SCTID:45004005|DOID:11155|HP:0000966|ICD10:L74.4|Wikipedia:Hypodidrosis|UMLS:C0020620|MESH:D007007|EFO:1000712																		owl:Class
MONDO:0022173	biolink:NamedThing	chromosome 11q trisomy		mondoexuq1wtf	Duplication 11q|trisomy 11q											MESH:C538297																		owl:Class
MONDO:0010950	biolink:NamedThing	type 1 diabetes mellitus 8	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.	mondoexuq1wtf	insulin-dependent diabetes mellitus 8|IDDM8|diabetes mellitus, insulin-dependent, 8											DOID:0110747|UMLS:C1833218|MESH:C563433|ICD10:E10|OMIM:600883																		owl:Class
MONDO:0007799	biolink:NamedThing	hypophosphatemic bone disease		mondoexuq1wtf	HBD|hypophosphatemic bone disease											OMIM:146350|MESH:C564145|UMLS:C1840321																		owl:Class
MONDO:0015471	biolink:NamedThing	benign focal seizures of adolescence		mondoexuq1wtf	adolescent benign focal crisis											ICD10:G40.8|SCTID:715425000|UMLS:C4275141|Orphanet:1544																		owl:Class
MONDO:0011043	biolink:NamedThing	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay		mondoexuq1wtf	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay											OMIM:601347|MESH:C563345|UMLS:C1832442																		owl:Class
MONDO:0015556	biolink:NamedThing	nodular urticaria pigmentosa		mondoexuq1wtf												ICD10:Q82.2|Orphanet:158772																		owl:Class
MONDO:0008637	biolink:NamedThing	bifid uvula	Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.	mondoexuq1wtf	uvula, cleft|uvular cleft|uvula, bifid|bifidity of the uvula											ICD10:Q35.7|Orphanet:99771|SCTID:18910001|OMIM:192100																		owl:Class
MONDO:0011949	biolink:NamedThing	Thai symphalangism syndrome		mondoexuq1wtf	Thai symphalangism syndrome											UMLS:C1842679|MESH:C564303|OMIM:608028|GARD:0003557														https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome				owl:Class
MONDO:0005750	biolink:NamedThing	ephemeral fever	An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.	mondoexuq1wtf												EFO:0007258|MESH:D004810|UMLS:C0014481																		owl:Class
MONDO:0003076	biolink:NamedThing	unilateral retinoblastoma	A retinoblastoma that only involves a single eye.	mondoexuq1wtf												NCIT:C8714|UMLS:C0854915|DOID:4651																		owl:Class
MONDO:0030992	biolink:NamedThing	short stature, oligodontia, dysmorphic facies, and motor delay		mondoexuq1wtf	SOFM											OMIM:619234																		owl:Class
MONDO:0016353	biolink:NamedThing	palmoplantar keratoderma-spastic paralysis syndrome		mondoexuq1wtf	keratoderma palmoplantar spastic paralysis|Powell-Venencie-Gordon syndrome|palmoplantar hyperkeratosis-spastic paralysis syndrome											GARD:0003095|Orphanet:2201|MESH:C538358																		owl:Class
MONDO:0033656	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 21		mondoexuq1wtf	MC4DN21											OMIM:619065																		owl:Class
MONDO:0010704	biolink:NamedThing	otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	mondoexuq1wtf	Taybi syndrome|OPD syndrome 1|otopalatodigital syndrome, type 1|otopalatodigital syndrome, type I|OPD I syndrome|OPD 1 syndrome|frontootopalatodigital osteodysplasia|OPD syndrome|OPD1|oto-palato-digital syndrome type 1|otopalatodigital spectrum disorder											GARD:0005121|OMIM:311300|Orphanet:90650|SCTID:54036001|ICD10:Q87.0|DOID:0111783|NCIT:C118845|ICD9:759.89																		owl:Class
MONDO:0004729	biolink:NamedThing	dyskinesia of esophagus	Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).	mondoexuq1wtf	oesophageal motor disorder|esophageal motility disorder|oesophageal dysmotility|dyskinesia of oesophagus|esophageal dysmotility											SCTID:266434009|ICD10:K22.4|ICD9:530.5|UMLS:C0014858|MESH:D015154|DOID:9192|EFO:1001785																		owl:Class
MONDO:0007883	biolink:NamedThing	lazy leukocyte syndrome		mondoexuq1wtf	lazy leukocyte syndrome											SCTID:71436005|ICD9:288.09|MESH:C562721|UMLS:C0272174|OMIM:150550																		owl:Class
MONDO:0011251	biolink:NamedThing	facial dysmorphism, cleft palate, hearing loss, and camptodactyly		mondoexuq1wtf	facial dysmorphism, cleft palate, hearing loss, and camptodactyly											UMLS:C1865203|OMIM:602556|MESH:C566524																		owl:Class
MONDO:0005697	biolink:NamedThing	cerebral toxoplasmosis	Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)	mondoexuq1wtf	encephalitis due to acquired toxoplasmosis|Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis											ICD9:130.0|MESH:D016781|EFO:0007200|SCTID:192701001																		owl:Class
MONDO:0005434	biolink:NamedThing	skin sensitivity to sun	The response of human skin to sun exposure.	mondoexuq1wtf						Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587						EFO:0004795																		owl:Class
MONDO:0021761	biolink:NamedThing	acral dysostosis dyserythropoiesis syndrome	An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.	mondoexuq1wtf												GARD:0000478														https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome				owl:Class
MONDO:0004454	biolink:NamedThing	cellular congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.	mondoexuq1wtf	cellular congenital mesoblastic nephroma											NCIT:C39815|DOID:8082|UMLS:C1516474																		owl:Class
MONDO:0004297	biolink:NamedThing	lymphoepithelioma-like thymic carcinoma	A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.	mondoexuq1wtf	lymphoepithelioma-like carcinoma of the Thymus|lymphoepithelial cancer of Thymus|malignant lymphoepithelial thymoma|lymphoepithelial Thymus cancer|thymic lymphoepithelioma-like carcinoma|lymphoepithelioma-like carcinoma of Thymus|lymphoepithelioma-like thymic carcinoma|lymphoepithelioma-like Thymus carcinoma|lymphoepithelial cancer of the Thymus											DOID:7599|UMLS:C0279706|NCIT:C7998																		owl:Class
MONDO:0017929	biolink:NamedThing	congenital achiasma	Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	mondoexuq1wtf												Orphanet:324353|ICD10:H47.4|SCTID:734031008																		owl:Class
MONDO:0020737	biolink:NamedThing	optic atrophy 10 with or without ataxia, intellectual disability, and seizures		mondoexuq1wtf	OPA10|optic atrophy 10 with or without ataxia, mental retardation, and seizures|optic atrophy 10 with or without ataxia, intellectual disability, and seizures											DOID:0111434|OMIM:616732																		owl:Class
MONDO:0006824	biolink:NamedThing	Krebs 2 carcinoma	Carcinoma having known association to krebs2 gene mutation	mondoexuq1wtf												UMLS:C0007128|EFO:1001007|MESH:D002287																		owl:Class
MONDO:0002881	biolink:NamedThing	vaginal adenosarcoma	A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.	mondoexuq1wtf	vagina adenosarcoma|vaginal Müllerian adenosarcoma|vaginal adenosarcoma|vaginal Mullerian adenosarcoma|adenosarcoma of vagina											UMLS:C1519914|NCIT:C40277|DOID:4117																		owl:Class
MONDO:0010977	biolink:NamedThing	Brody myopathy	Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.	mondoexuq1wtf	Brody myopathy|sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody disease											GARD:0009158|MESH:C536607|UMLS:C1832918|OMIM:601003|ICD10:G71.8|Orphanet:53347|ICD9:359.89|SCTID:703530005|DOID:0050692														https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy				owl:Class
MONDO:0001728	biolink:NamedThing	active vestibular Meniere disease		mondoexuq1wtf	vestibular active Mnire's disease|active Meniere's disease, vestibular|active vestibular Meniere disease|active vestibular Meniere's disease											ICD9:386.03|UMLS:C0155498|SCTID:194350005|DOID:13491																		owl:Class
MONDO:0012603	biolink:NamedThing	episodic kinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.	mondoexuq1wtf	EKD2|dystonia 19|episodic kinesigenic dyskinesia 2|episodic kinesigenic dyskinesia type 2											MESH:C567026|ICD10:G24.8|OMIM:611031|UMLS:C1970238|DOID:0090054																		owl:Class
MONDO:0020535	biolink:NamedThing	house allergic alveolitis	House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.	mondoexuq1wtf												ICD10:J67.8|SCTID:725415009|Orphanet:99907|UMLS:C4511048																		owl:Class
MONDO:0016243	biolink:NamedThing	hemoglobin E disease	Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.	mondoexuq1wtf	hemoglobin E disease|Hb-E disease											MedDRA:10053215|SCTID:25065001|DOID:5379|ICD9:282.7|GARD:0002641|NCIT:C35287|Orphanet:2133|ICD10:D58.2|UMLS:C0238159														https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease				owl:Class
MONDO:0023073	biolink:NamedThing	eosinophilic cryptitis	Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.	mondoexuq1wtf	eosinophilic cystitis											GARD:0006347|UMLS:C0742965|GARD:0006346|SCTID:445918001|ICD9:595.89														https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis|https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis				owl:Class
MONDO:0006140	biolink:NamedThing	cervical mucinous adenocarcinoma, minimal deviation variant	A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.	mondoexuq1wtf	cervical mucinous adenocarcinoma, minimal deviation variant|cervical adenoma malignum|cervical mucinous adenocarcinoma, minimal deviation type											DOID:6627|EFO:1000169|UMLS:C1516423|NCIT:C40206																		owl:Class
MONDO:0001005	biolink:NamedThing	kaolin pneumoconiosis	Pneumoconiosis caused by inhalation of kaolin dust.	mondoexuq1wtf	Kaolinosis|simple kaolinosis											UMLS:C0264435|NCIT:C35315|SCTID:36696005|GARD:0008355|DOID:10331|ICD9:502														https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis				owl:Class
MONDO:0005326	biolink:NamedThing	sunburn	An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.	mondoexuq1wtf												MESH:D013471|ICD9:692.71|EFO:0003958|ICD10:L55|SCTID:403194002																		owl:Class
MONDO:0030056	biolink:NamedThing	Fanconi renotubular syndrome 5		mondoexuq1wtf	FRTS5|Fanconi Renotubular Syndrome, Acadian Variant|Fanconi renotubular syndrome 5|FANCONI RENOTUBULAR SYNDROME 5											OMIM:618913																		owl:Class
MONDO:0001944	biolink:NamedThing	mixed malaria	A malaria that involves infection with more than one species of Plasmodium at the same time.	mondoexuq1wtf	malaria by more than one parasite|malaria fever by more than one parasite											SCTID:21070001|ICD9:084.5|UMLS:C0153121|DOID:14325																		owl:Class
MONDO:0030055	biolink:NamedThing	sorbitol dehydrogenase deficiency with peripheral neuropathy		mondoexuq1wtf	Sorbitol Dehydrogenase Deficiency|sorbitol dehydrogenase deficiency with peripheral neuropathy|SORDD|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY											OMIM:618912																		owl:Class
MONDO:0009888	biolink:NamedThing	polycystic kidney, cataract, and congenital blindness		mondoexuq1wtf	polycystic kidney, cataract, and congenital blindness											OMIM:263100|MESH:C564882|UMLS:C1849771																		owl:Class
MONDO:0022978	biolink:NamedThing	diaphragmatic hernia upper limb defects		mondoexuq1wtf												GARD:0001847														https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects				owl:Class
MONDO:0022930	biolink:NamedThing	dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia		mondoexuq1wtf	Aughton sloan Milad syndrome											UMLS:C2931823|MESH:C538340|GARD:0000137														https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia				owl:Class
MONDO:0015698	biolink:NamedThing	transient hypogammaglobulinemia of infancy	A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.	mondoexuq1wtf	THI|transient hypogammaglobulinemia of infancy											Orphanet:169139|DOID:624|MedDRA:10044388|UMLS:C0272238|SCTID:88714009|NCIT:C27071|ICD10:D80.7|ICD9:279.09																		owl:Class
MONDO:0006280	biolink:NamedThing	lung sclerosing hemangioma	A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.	mondoexuq1wtf	lung sclerosing hemangioma|sclerosing hemangioma of lung|sclerosing haemangioma|sclerosing hemangioma|lung sclerosing angioma|pulmonary sclerosing hemangioma|Pneumocytoma|sclerosing Pneumocytoma|sclerosing hemangioma of the lung|sclerosing angioma of the lung|sclerosing angioma of lung					Editor note: we beieve the 3 DO classes are equivalent					MONDO:0006934	SCTID:707365008|DOID:5766|NCIT:C5656|UMLS:C1509148|DOID:495|MESH:D047868|EFO:1000337|ICD9:228.09																		owl:Class
MONDO:0012949	biolink:NamedThing	aneurysm, intracranial berry, 9		mondoexuq1wtf	aneurysm, intracranial BERRY, 9|ANIB9											OMIM:612586|UMLS:C2675485|MESH:C567238																		owl:Class
MONDO:0005873	biolink:NamedThing	neuroaspergillosis	Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)	mondoexuq1wtf												EFO:0007393|DOID:13565|UMLS:C0752342|MESH:D020953																		owl:Class
MONDO:0033308	biolink:NamedThing	Joubert syndrome 30		mondoexuq1wtf	Joubert syndrome 30|JBTS30											DOID:0080275|OMIM:617622																		owl:Class
MONDO:0043339	biolink:NamedThing	lathyrism	A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.	mondoexuq1wtf	Lathyrus species poisoning|lathyrism|Neurolathyrism|vetchling poisoning											SCTID:5724005|GARD:0010441|MESH:D007842|EFO:1001776																		owl:Class
MONDO:0020708	biolink:NamedThing	brachial amyotrophic diplegia	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.	mondoexuq1wtf	man-in-barrel syndrome|flail arm syndrome|BAD|brachial amyotrophic diplegia|FAS											NCIT:C133085																		owl:Class
CL:0002679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0009521	biolink:NamedThing	leukemia, acute myelocytic, with polyposis coli and colon cancer		mondoexuq1wtf	leukemia, acute myelocytic, with polyposis coli and colon cancer											UMLS:C1855505|MESH:C565441|OMIM:246470																		owl:Class
MONDO:0017947	biolink:NamedThing	ABeta amyloidosis, Italian type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.	mondoexuq1wtf	ABetaE22K amyloidosis|HCHWA, Italian type|hereditary cerebral hemorrhage with amyloidosis, Italian type|cerebral amyloid angiopathy, APP-related, Italian variant											ICD10:E85.4+|Orphanet:324713|ICD10:I68.0*																		owl:Class
MONDO:0008902	biolink:NamedThing	camptodactyly-ichthyosis syndrome		mondoexuq1wtf	camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome											UMLS:C1859355|MESH:C537976|GARD:0010134|OMIM:211965														https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome				owl:Class
MONDO:0008571	biolink:NamedThing	Blount disease, infantile		mondoexuq1wtf	Osteochondrosis deformans tibiae, infantile|tibia vara, infantile|Blount disease, infantile											OMIM:188700|UMLS:C3150037																		owl:Class
MONDO:0007761	biolink:NamedThing	hyperlipoproteinemia type IV	A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.	mondoexuq1wtf	carbohydrate-inducible hyperlipemia|carbohydrate inducible hyperlipemia|Fredrickson type IV lipidaemia|hyperlipoproteinemia, type IV|endogenous hyperlipidaemia|hyperlipoproteinemia, type 4|Fredrickson type IV Lipidemia|Fredrickson type IV hyperlipoproteinemia|hyperlipoproteinemia type 4|VLDL hyperlipoproteinemia|familial type IV hyperlipoproteinemia|familial hypertriglyceridemia											GARD:0006418|UMLS:CN074246|ICD10:E78.1|OMIM:144600|MESH:D006953|DOID:1172|ICD9:272.1|SCTID:238085009														https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4				owl:Class
MONDO:0043343	biolink:NamedThing	Chilaiditi syndrome	Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.	mondoexuq1wtf	syndrome, Chilaiditi's|anomaly, Chilaiditi's|anomaly, Chilaiditi|chilaiditi's syndrome|subphrenic interposition syndrome|Chilaiditi's syndrome|Chilaiditis anomaly|Chilaiditi anomaly|Chilaiditis syndrome|Chilaiditi's anomaly|syndrome, Chilaiditi|hepatodiaphragmatic colonic interposition											MESH:D059269|SCTID:14911005|GARD:0010685																		owl:Class
MONDO:0008235	biolink:NamedThing	pheochromocytoma-islet cell tumor syndrome		mondoexuq1wtf	pheochromocytoma-islet cell tumor syndrome|pheochromocytoma--islet cell tumor syndrome|pheochromocytoma and islet cell tumor of the pancreas											UMLS:C1868392|GARD:0004321|OMIM:171420|MESH:C566807														https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome				owl:Class
MONDO:0010544	biolink:NamedThing	cataract 40	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.	mondoexuq1wtf	early-onset non-syndromic cataract caused by mutation in NHS|cataract type 40|CTRCT40|cataract, congenital, with microcornea or slight microphthalmia|cataract 40|cataract, congenital, X-linked|cataract 40 with or without microcornea|NHS early-onset non-syndromic cataract|cataract, congenital total, with posterior sutural opacities in heterozygotes|cataract 40, X-linked|cataract congenital X-linked|cataract 40 X-linked											MESH:C535338|DOID:0110272|OMIM:302200|GARD:0008278|ICD10:Q12.0																		owl:Class
MONDO:0019650	biolink:NamedThing	idiopathic steroid-sensitive nephrotic syndrome with minimal change		mondoexuq1wtf	steroid-sensitive MCNS											UMLS:CN206522|ICD10:N04.0|Orphanet:93207																		owl:Class
MONDO:0012599	biolink:NamedThing	hypertension, essential, susceptibility to, 8		mondoexuq1wtf	HYT8|hypertension, essential, susceptibility to, 8											OMIM:611014																		owl:Class
MONDO:0006961	biolink:NamedThing	scrapie	A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.	mondoexuq1wtf												EFO:1001168|UMLS:C0036457|DOID:5434|MESH:D012608																		owl:Class
MONDO:0003009	biolink:NamedThing	hyperaldosteronism	Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.	mondoexuq1wtf	primary hyperaldosteronism											SCTID:88213004|ICD9:255.10|MESH:D006929|ICD9:255.1|COHD:195213|ICD10:E26|DOID:446|UMLS:C0020428|ICD10:E26.9																		owl:Class
MONDO:0019550	biolink:NamedThing	hereditary motor and sensory neuropathy with acrodystrophy	Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	mondoexuq1wtf	AR-CMT2 with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|HMSN with acrodystrophy|autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy											Orphanet:90119|UMLS:CN206379|ICD10:G60.0																		owl:Class
MONDO:0008450	biolink:NamedThing	spinal arachnoiditis	A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.	mondoexuq1wtf	arachnoiditis, spinal|spinal arachnoiditis											MESH:C531624|OMIM:182950|SCTID:426055002|NCIT:C50749|UMLS:C1710146																		owl:Class
MONDO:0054725	biolink:NamedThing	spermatogenic failure 21		mondoexuq1wtf	SPGF21|spermatogenic failure 21											DOID:0070163|UMLS:C4539991|OMIM:617644																		owl:Class
MONDO:0008352	biolink:NamedThing	pupillary membrane, persistence of		mondoexuq1wtf	pupillary membrane, persistence of											OMIM:178900|MESH:C562700																		owl:Class
MONDO:0020180	biolink:NamedThing	palpebral piliary tumor		mondoexuq1wtf												Orphanet:98590|UMLS:CN207040																		owl:Class
MONDO:0007258	biolink:NamedThing	canine teeth, absence of upper permanent		mondoexuq1wtf	canine teeth, absence of upper permanent											UMLS:C1861899|OMIM:114600																		owl:Class
MONDO:0017725	biolink:NamedThing	Tay-Sachs disease, b variant, juvenile form		mondoexuq1wtf	hexosaminidase A deficiency, juvenile form|GM2 gangliosidosis, B variant, juvenile form											Orphanet:309185|ICD10:E75.0|UMLS:CN203621																		owl:Class
MONDO:0033009	biolink:NamedThing	Galloway-Mowat syndrome 5		mondoexuq1wtf	GAMOS5|Galloway-Mowat syndrome 5											DOID:0080247|UMLS:CN570507|OMIM:617731																		owl:Class
MONDO:0019034	biolink:NamedThing	accessory pancreas	Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.	mondoexuq1wtf	pancreas accessorium											MESH:C536003|ICD10:Q45.3|SCTID:79037006|GARD:0000454|Orphanet:674														https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas				owl:Class
MONDO:0006875	biolink:NamedThing	ocular hypertension	Abnormally high intraocular pressure.	mondoexuq1wtf												EFO:1001069|ICD10:H40.05|UMLS:C0028840|DOID:9282|ICD9:365.04|COHD:381290|MESH:D009798|SCTID:4210003|MedDRA:10030043																		owl:Class
MONDO:0007054	biolink:NamedThing	acromial dimples		mondoexuq1wtf	supraspinous fossae, congenital|acromial dimples											UMLS:C1863321|OMIM:102350																		owl:Class
MONDO:0030031	biolink:NamedThing	lissencephaly 10		mondoexuq1wtf	lissencephaly 10|LIS10|LISSENCEPHALY 10											OMIM:618873																		owl:Class
MONDO:0015715	biolink:NamedThing	severe hemophilia B	Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	mondoexuq1wtf	severe factor IX deficiency|severe hemophilia type B											UMLS:CN200227|ICD10:D67|Orphanet:169793																		owl:Class
MONDO:0013829	biolink:NamedThing	UV-sensitive syndrome 2	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.	mondoexuq1wtf	UV-sensitive syndrome 2|UV-sensitive syndrome caused by mutation in ERCC8|UVSS2|ERCC8 UV-sensitive syndrome|UV-sensitive syndrome type 2											OMIM:614621|UMLS:C3553298																		owl:Class
MONDO:0019561	biolink:NamedThing	lupus erythematosus panniculitis	A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.	mondoexuq1wtf	lupus profundus|lupus panniculitis|lupus erythematosus profundus											UMLS:C0030327|Orphanet:90285|MESH:D015435|NCIT:C82884|SCTID:15084002|ICD10:L93.2																		owl:Class
MONDO:0007980	biolink:NamedThing	metachromasia of fibroblasts		mondoexuq1wtf	metachromasia of fibroblasts											OMIM:156300																		owl:Class
MONDO:0001957	biolink:NamedThing	critical illness polyneuropathy		mondoexuq1wtf												SCTID:230594005|ICD10:G62.81|UMLS:C0393851|COHD:374032|DOID:14402|ICD9:357.82																		owl:Class
MONDO:0002067	biolink:NamedThing	female breast upper-inner quadrant cancer		mondoexuq1wtf	malignant neoplasm of upper-inner quadrant of female breast											SCTID:188152004|ICD9:174.2|ICD10:C50.2|UMLS:C0153550|DOID:1647																		owl:Class
MONDO:0004172	biolink:NamedThing	uterine corpus adenocarcinofibroma	A adenocarcinofibroma that involves the body of uterus.	mondoexuq1wtf	adenocarcinofibroma of body of uterus|body of uterus adenocarcinofibroma											DOID:7281																		owl:Class
MONDO:0004129	biolink:NamedThing	cloacogenic carcinoma	An anal carcinoma arising from the transitional zone of the anal canal.	mondoexuq1wtf	anal canal cloacogenic cancer|cloacogenic anal carcinoma|anal canal cloacogenic carcinoma|cloacogenic carcinoma of the anus|anal cloacogenic carcinoma|cloacogenic carcinoma of anus|cloacogenic carcinoma (morphologic abnormality)											DOID:7173|ICDO:8124/3|MESH:C563020|NCIT:C8255																		owl:Class
MONDO:0001175	biolink:NamedThing	immature cataract	A cataract disease in which the cataract contains some transparent protein	mondoexuq1wtf	water clefts|incipient senile cataract|incipient cataract											DOID:10997|UMLS:C2960113|UMLS:C2939157|COHD:40482507|ICD10:H25.09|SCTID:446474007|UMLS:C0271163																		owl:Class
MONDO:0011592	biolink:NamedThing	exudative vitreoretinopathy 3		mondoexuq1wtf	EVR3|exudative vitreoretinopathy 3											UMLS:C1854002|MESH:C565297|DOID:0111409|OMIM:605750																		owl:Class
MONDO:0012938	biolink:NamedThing	Diamond-Blackfan anemia 7	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.	mondoexuq1wtf	DBA7|Diamond-Blackfan anemia caused by mutation in RPL11|Diamond-Blackfan anemia 7|RPL11 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 7											UMLS:C2675512|MESH:C567254|OMIM:612562																		owl:Class
MONDO:0006945	biolink:NamedThing	renal artery obstruction	Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).	mondoexuq1wtf												EFO:1001150|MESH:D012078|UMLS:C0035066|ICD10:N28.0|DOID:2972																		owl:Class
MONDO:0003800	biolink:NamedThing	conventional malignant hemangiopericytoma	A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.	mondoexuq1wtf	conventional malignant hemangiopericytoma					Editor note: check SFT/hemangiopericytoma/spindle cell tumor						UMLS:C1333158|DOID:6197|NCIT:C9425																		owl:Class
MONDO:0017268	biolink:NamedThing	acral self-healing collodion baby	Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.	mondoexuq1wtf	acral SHCB											ICD10:Q80.2|Orphanet:281127|SCTID:718633009																		owl:Class
MONDO:0017412	biolink:NamedThing	2q31.1 microduplication syndrome		mondoexuq1wtf	dup(2)(q31.1)|trisomy 2q31.1											ICD10:Q92.3|UMLS:CN203162|Orphanet:294026																		owl:Class
MONDO:0018604	biolink:NamedThing	familial colorectal cancer type X	Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.	mondoexuq1wtf	FCCTX|familial colorectal cancer type X											ICD10:C18.3|UMLS:CN237636|ICD10:C18.0|ICD10:C18.4|ICD10:C18.2|ICD10:C18.6|ICD10:C18.5|NCIT:C120084|UMLS:C3896578|ICD10:C18.1|Orphanet:440437|ICD10:C18.7																		owl:Class
MONDO:0002440	biolink:NamedThing	erythropoietin polycythemia	Polycythemia that is caused by excess erythropoietin.	mondoexuq1wtf	nephrogenous polycythemia|polycythemia, nephrogenous|secondary polycythemia with excess erythropoietin|polycythemia due to excess erythopoetin production|polycythaemia due to Excess erythropoetin production											ICD10:D75.1|SCTID:367328005|DOID:2839|NCIT:C35434|UMLS:C0391869																		owl:Class
MONDO:0014407	biolink:NamedThing	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.	mondoexuq1wtf	AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|MPPH2											OMIM:615937|UMLS:C4014738																		owl:Class
MONDO:0020848	biolink:NamedThing	osteopetrosis, autosomal dominant 3		mondoexuq1wtf	OSTEOPETROSIS, autosomal dominant 3|OPTA3											OMIM:618107																		owl:Class
MONDO:0006060	biolink:NamedThing	nasopharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the nasopharynx.	mondoexuq1wtf												EFO:1000058																		owl:Class
MONDO:0017084	biolink:NamedThing	leptomyelolipoma	Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.	mondoexuq1wtf												Orphanet:268838																		owl:Class
MONDO:0011590	biolink:NamedThing	anisomastia		mondoexuq1wtf	anisomastia											OMIM:605746|MESH:C565299																		owl:Class
MONDO:0020482	biolink:NamedThing	myotonia permanens	Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	mondoexuq1wtf												SCTID:715789009|Orphanet:99735|UMLS:CN207354|ICD10:G71.1																		owl:Class
MONDO:0022907	biolink:NamedThing	cutaneous sclerosis		mondoexuq1wtf												GARD:0009752														https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis				owl:Class
MONDO:0008887	biolink:NamedThing	bronchiectasis with or without elevated sweat chloride 1		mondoexuq1wtf	cystic fibrosis-like syndrome|bronchiectasis with or without elevated sweat chloride 1|BESC1|bronchiectasis with or without elevated sweat chloride type 1											OMIM:211400|UMLS:C2749757|MESH:C567618|DOID:0080526																		owl:Class
MONDO:0000745	biolink:NamedThing	cardiac arrest	Cessation of breathing and/or cardiac function.	mondoexuq1wtf	cardiopulmonary arrest|circulatory arrest											MESH:D006323|SCTID:410429000|ICD9:427.5|ICD10:I46|UMLS:C0444720|DOID:0060319|UMLS:C0018790|COHD:321042																		owl:Class
MONDO:0011456	biolink:NamedThing	nephronophthisis 3	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.	mondoexuq1wtf	Nph3|NPHP3|nephronophthisis (disease) caused by mutation in NPHP3|NPHP3 nephronophthisis (disease)|nephronophthisis 3|NPH3|nephronophthisis type 3											OMIM:604387|MESH:C565780|UMLS:C1858392|DOID:0111114																		owl:Class
MONDO:0002929	biolink:NamedThing	pulmonary immaturity		mondoexuq1wtf	primary atelectasis, in perinatal period|primary atelectasis of newborn											SCTID:42908004|ICD9:770.4|COHD:258554|DOID:424|ICD10:P28.0																		owl:Class
MONDO:0007905	biolink:NamedThing	lip, hamartomatous		mondoexuq1wtf	lip, hamartomatous|enlargement of Lower lip											UMLS:C1835395|OMIM:151640|MESH:C563621																		owl:Class
MONDO:0007074	biolink:NamedThing	ainhum	Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.	mondoexuq1wtf	ainhum|Dactylolysis|Dactylolysis spontanea|ainhum (disease)|spontaneous dactylolysis		ainhum (disease)									COHD:136912|UMLS:C0001860|HP:0031009|ICD9:136.0|DOID:11329|ICD10:L94.6|OMIM:103400|NCIT:C84544|MESH:D000387|SCTID:38528001|GARD:0009512																		owl:Class
MONDO:0010093	biolink:NamedThing	syndesmodysplasic dwarfism		mondoexuq1wtf	syndesmodysplasic dwarfism											Orphanet:2654|OMIM:272450|UMLS:C2931647|MESH:C537869																		owl:Class
MONDO:0016079	biolink:NamedThing	sporadic Creutzfeldt-Jakob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).	mondoexuq1wtf	sporadic CJD											ICD9:046.19|ICD10:A81.0|SCTID:713060000|Orphanet:204|MedDRA:10011384																		owl:Class
MONDO:0004238	biolink:NamedThing	petrous apex meningioma	A meningioma that affects the petrous apex.	mondoexuq1wtf	petrous ridge meningioma|meningioma of the petrous apex|meningioma of the petrous ridge|meningioma of petrous apex|meningioma of petrous ridge											UMLS:C1335396|DOID:7482|NCIT:C5271																		owl:Class
MONDO:0007917	biolink:NamedThing	lymphedema-cerebral arteriovenous anomaly syndrome	Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.	mondoexuq1wtf	lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet											MESH:C563612|Orphanet:86914|UMLS:C1835272|GARD:0009217|OMIM:152900																		owl:Class
MONDO:0012623	biolink:NamedThing	intellectual disability, autosomal recessive 4		mondoexuq1wtf	MRT4|intellectual disability, autosomal recessive 4|mental retardation, autosomal recessive 4											OMIM:611107|UMLS:C1970179|MESH:C567008																		owl:Class
MONDO:0018051	biolink:NamedThing	Jessner lymphocytic infiltration of the skin	Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.	mondoexuq1wtf	benign chronic T-cell infiltrative disorder|lymphocytic infiltrate of Jessner|benign lymphocytic infiltration|Jessner-Kanof lymphocytic infiltration of the skin|Jessner-Kanof syndrome|Jessner disease											GARD:0006940|UMLS:C0580181|Orphanet:33314|ICD10:L98.6														https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner				owl:Class
MONDO:0004052	biolink:NamedThing	rectal cloacogenic carcinoma	A carcinoma that arises from the transitional zone at the junction of the rectum and anus.	mondoexuq1wtf	transitional zone carcinoma of rectum|rectal transition zone carcinoma|cloacogenic carcinoma of rectum|rectal cloacogenic carcinoma|cloacogenic carcinoma of the rectum|transition zone carcinoma of the rectum|transition zone carcinoma of rectum|transitional zone carcinoma of the rectum|rectal transitional zone carcinoma											UMLS:C1333074|NCIT:C5555|DOID:6959																		owl:Class
MONDO:0041996	biolink:NamedThing	thallium poisoning		mondoexuq1wtf	thallium poisoning											SCTID:51040009																		owl:Class
MONDO:0007372	biolink:NamedThing	cornea plana 1, autosomal dominant		mondoexuq1wtf	cornea plana 1, autosomal dominant|cornea plana 1|CNA1											UMLS:C1852557|MESH:C565158|OMIM:121400																		owl:Class
MONDO:0007489	biolink:NamedThing	dysplasia epiphysealis hemimelica	Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rarecondition that most commonly affects the epiphysis (the end) of long bones in children.Early diagnosis and treatment are necessary to prevent jointdysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.Thecause ofdysplasia epiphysealis hemimelica is not known.	mondoexuq1wtf	Trevor disease|dysplasia epiphysealis hemimelica											ICD10:Q74.8|SCTID:205480005|UMLS:C0432282|MESH:C537997|ICD9:756.59|GARD:0002019|OMIM:127800|Orphanet:1822														https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica				owl:Class
MONDO:0017516	biolink:NamedThing	brachydactyly of fingers, bilateral		mondoexuq1wtf	short fingers, bilateral											ICD10:Q71.8|Orphanet:295130																		owl:Class
MONDO:0022913	biolink:NamedThing	cutler bass Romshe syndrome		mondoexuq1wtf												GARD:0001646														https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome				owl:Class
MONDO:0019482	biolink:NamedThing	dendritic cell sarcoma not otherwise specified		mondoexuq1wtf												ICD10:C96.4|Orphanet:86903																		owl:Class
MONDO:0022823	biolink:NamedThing	congenital contractures		mondoexuq1wtf												GARD:0001477														https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures				owl:Class
MONDO:0013914	biolink:NamedThing	hypogonadotropic hypogonadism 12 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.	mondoexuq1wtf	familial hypogonadotrophic eunuchoidism|eunuchoidism familial hypogonadotropic|HH12|eunuchoidism, familial hypogonadotropic|gonadotropin deficiency, familial idiopathic|gonadotropin deficiency familial idiopathic|hypogonadotropic hypogonadism 12 with or without anosmia|familial idiopathic gonadotrpin deficiency|FIGD|familial hypogonadotropic eunuchoidism											GARD:0000276|UMLS:C1856897|ICD10:E23.0|MESH:C535764|OMIM:614841|DOID:0090072														https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic				owl:Class
MONDO:0019754	biolink:NamedThing	multicentric Castleman disease	Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.	mondoexuq1wtf	PMCD|MCD|multicentric Castleman's disease|multicentric giant lymph node hyperplasia|multicentric Angiofollicular lymphoid hyperplasia|multicentric plasma cell variant of Castleman's disease|idiopathic multicentric Castleman's disease|plasmablastic multicentric Castleman disease											GARD:0009644|NCIT:C27855|UMLS:C1334815|Orphanet:93686|GARD:9644|url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|DOID:0111152|ICD10:D36.0																		owl:Class
MONDO:0022461	biolink:NamedThing	anophthalmia cleft palate micrognathia	A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.	mondoexuq1wtf												GARD:0000715														https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia				owl:Class
MONDO:0002942	biolink:NamedThing	sebaceous basal cell carcinoma		mondoexuq1wtf	skin basosebaceous basal cell carcinoma											DOID:4286																		owl:Class
MONDO:0001520	biolink:NamedThing	kleptomania	A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.	mondoexuq1wtf	pathological stealing|kleptomania											ICD10:F63.2|SCTID:69361009|ICD9:312.32|DOID:12400|NCIT:C94333|COHD:434632																		owl:Class
MONDO:0012300	biolink:NamedThing	prostate cancer, hereditary, 6		mondoexuq1wtf	prostate cancer, hereditary, 6|HPC6|prostate cancer, hereditary, type 6											UMLS:C1836005|OMIM:609558|MESH:C563699																		owl:Class
MONDO:0022803	biolink:NamedThing	coloboma porencephaly hydronephrosis		mondoexuq1wtf												GARD:0001439														https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis				owl:Class
MONDO:0001915	biolink:NamedThing	orbital cyst		mondoexuq1wtf	orbit cyst					Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666]						DOID:14233|HP:0001144|ICD9:376.81|SCTID:31021007|ICD10:H05.81|COHD:440418|UMLS:C0155285																		owl:Class
MONDO:0010174	biolink:NamedThing	Valinemia	Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.	mondoexuq1wtf	Valinemia|valine transaminase deficiency|hypervalinemia											UMLS:C0268573|MESH:C536524|OMIM:277100|SCTID:47719001|GARD:0007845														https://rarediseases.info.nih.gov/diseases/7845/valinemia				owl:Class
MONDO:0019456	biolink:NamedThing	acute myeloid leukemia with multilineage dysplasia	An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.	mondoexuq1wtf	AML with myelodysplasia-related features|De novo acute myeloid leukemia with multilineage dysplasia|AML with multilineage dysplasia|acute myeloid leukaemia with myelodysplasia-related features											GARD:0012761|Orphanet:86845|SCTID:445448008|ICDO:9895/3|NCIT:C9289|UMLS:C1292773|ICD10:C92.8																		owl:Class
MONDO:0010385	biolink:NamedThing	X-linked lymphoproliferative disease due to XIAP deficiency	A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.	mondoexuq1wtf	XIAP deficiency/XLPs|lymphoproliferative syndrome, X-linked, type 2|XIAP deficiency|lymphoproliferative syndrome, X-linked, 2|XIAP-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative syndrome type 2|Xiap deficiency|XLP2											NCIT:C126295|UMLS:C1845076|OMIM:300635|DOID:0060706|ICD10:D82.3|MESH:C564469|GARD:0010916|Orphanet:538934														https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2				owl:Class
MONDO:0043377	biolink:NamedThing	juvenile spondyloarthropathy	A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.	mondoexuq1wtf	juvenile spondyloarthropathy|JSpA|juvenile Spondyloarthritis											NCIT:C114347|SCTID:239806000|UMLS:C0409676|GARD:0012939																		owl:Class
MONDO:0017556	biolink:NamedThing	Madelung deformity, unilateral		mondoexuq1wtf												Orphanet:295221|ICD10:Q74.0																		owl:Class
MONDO:0017586	biolink:NamedThing	onychocytic matricoma	Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.	mondoexuq1wtf	acanthoma of the nail matrix											GARD:0011007|UMLS:CN203392|Orphanet:300504														https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma				owl:Class
MONDO:0005426	biolink:NamedThing	MRI defined brain infarct	An infarct detected by MRI and not determined to be clinically significant	mondoexuq1wtf						This term represents a finding not a disease, it may be obsoleted in future						EFO:0004715																		owl:Class
MONDO:0012135	biolink:NamedThing	restless legs syndrome, susceptibility to, 2		mondoexuq1wtf	restless legs syndrome, susceptibility to, 2|RLS2											OMIM:608831|UMLS:C1837285|GARD:0009710																		owl:Class
MONDO:0016773	biolink:NamedThing	atrophic lichen planus	Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.	mondoexuq1wtf	atrophic LP											NCIT:C34777|MedDRA:10056959|Orphanet:254449|ICD10:L43.8|UMLS:C0023647|SCTID:25858008|GARD:0012675														https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus				owl:Class
MONDO:0002124	biolink:NamedThing	secondary lacrimal atrophy		mondoexuq1wtf	consecutive atrophy of lacrimal gland|secondary lacrimal atrophy|secondary atrophy of lacrimal gland											COHD:376980|SCTID:75068001|ICD10:H04.15|DOID:1822|ICD9:375.14																		owl:Class
MONDO:0008081	biolink:NamedThing	neurofibromatosis, type IV, of Riccardi		mondoexuq1wtf	neurofibromatosis, variant form(S) of|neurofibromatosis, atypical|neurofibromatosis type 4|neurofibromatosis, type IV, of RICCARDI|neurofibromatosis, type IV, of Riccardi|Nf 4|NF4|type IV neurofibromatosis of Riccardi|neurofibromatosis type IV											MESH:C537392|OMIM:162270																		owl:Class
MONDO:0017070	biolink:NamedThing	total spina bifida cystica		mondoexuq1wtf												Orphanet:268748																		owl:Class
MONDO:0017360	biolink:NamedThing	vitamin B12-unresponsive methylmalonic acidemia type mut0	Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	mondoexuq1wtf	complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0											ICD10:E71.1|SCTID:237945003|Orphanet:289916|UMLS:CN203025																		owl:Class
MONDO:0007370	biolink:NamedThing	coracoclavicular joint, anomalous		mondoexuq1wtf	coracoclavicular joint, anomalous											OMIM:121350|MESH:C565161																		owl:Class
MONDO:0032913	biolink:NamedThing	congenital heart defects, multiple types, 7		mondoexuq1wtf	CHTD7|CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7											OMIM:618780																		owl:Class
MONDO:0030088	biolink:NamedThing	diabetes mellitus, permanent neonatal 3		mondoexuq1wtf	DIABETES MELLITUS, PERMANENT NEONATAL 3|PNDM3|diabetes mellitus, permanent neonatal 3|Developmental Delay, Epilepsy, and Neonatal Diabetes 2											OMIM:618857																		owl:Class
MONDO:0030974	biolink:NamedThing	mitochondrial complex 2 deficiency, nuclear type 4		mondoexuq1wtf	mitochondrial complex 2 deficiency, nuclear type 4|MC2DN4											OMIM:619224																		owl:Class
MONDO:0022798	biolink:NamedThing	Cohen lockood wyborney syndrome		mondoexuq1wtf												GARD:0001423														https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome				owl:Class
MONDO:0005776	biolink:NamedThing	gnathomiasis	An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).	mondoexuq1wtf	Gnathostomiasis|Gnathostoma infection|infectious disease by Gnathostoma											ICD10:B83.1|NCIT:C128395|ICD9:128.1|SCTID:44086001|EFO:0007289|MESH:D058429|UMLS:C0018013|GARD:0009286|DOID:11379																		owl:Class
MONDO:0017461	biolink:NamedThing	familial isolated clinodactyly of fingers	Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.	mondoexuq1wtf												Orphanet:295014|ICD10:Q68.1|SCTID:763691008																		owl:Class
MONDO:0003905	biolink:NamedThing	ovarian yolk sac tumor, glandular pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.	mondoexuq1wtf	ovarian yolk Sac tumor, glandular pattern|glandular pattern ovarian yolk sac tumor											UMLS:C1518747|DOID:6511|NCIT:C39988																		owl:Class
MONDO:0030849	biolink:NamedThing	intellectual developmental disorder with speech delay and axonal peripheral neuropathy		mondoexuq1wtf	IDDSAPN											OMIM:619099																		owl:Class
MONDO:0020662	biolink:NamedThing	borderline ovarian serous tumor	A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.	mondoexuq1wtf	proliferating ovarian serous neoplasm|borderline ovarian serous tumor|borderline serous tumor of ovary|serous neoplasm of the ovary with low malignant potential|proliferating serous neoplasm of the ovary|ovarian serous neoplasm of low malignant potential|borderline ovarian serous neoplasm|borderline serous tumor of the ovary|borderline serous neoplasm of the ovary|borderline serous neoplasm of ovary|serous tumor of ovary with low malignant potential|proliferating serous neoplasm of ovary|serous neoplasm of ovary with low malignant potential|serous ovarian neoplasm of low malignant potential|serous tumor of the ovary with low malignant potential|proliferating serous tumor of the ovary|proliferating ovarian serous tumor|serous ovarian tumor of low malignant potential|ovarian serous tumor of low malignant potential|proliferating serous tumor of ovary											NCIT:C5226																		owl:Class
MONDO:0010229	biolink:NamedThing	alopecia, congenital	A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.	mondoexuq1wtf	congenital alopecia|ALPC|alopecia, congenital											SCTID:2965006|OMIM:300042|NCIT:C35790|MESH:C535981																		owl:Class
MONDO:0054654	biolink:NamedThing	combined oxidative phosphorylation deficiency 32		mondoexuq1wtf	combined oxidative phosphorylation deficiency 32|COXPD32											UMLS:C4540029|OMIM:617664|DOID:0111492																		owl:Class
MONDO:0012030	biolink:NamedThing	autosomal dominant nonsyndromic deafness 43	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.	mondoexuq1wtf	autosomal dominant nonsyndromic deafness type 43|autosomal dominant deafness 43|deafness, autosomal dominant 43|DFNA43											OMIM:608394|ICD10:H90.3|DOID:0110568|UMLS:C1842108|MESH:C564246																		owl:Class
MONDO:0002697	biolink:NamedThing	ovarian gonadoblastoma	A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.	mondoexuq1wtf	ovarian gonadoblastoma (disease)|gonadoblastoma of ovary|ovarian gonadoblastoma|gonadoblastoma|ovary gonadoblastoma|GBY		ovarian gonadoblastoma (disease)									UMLS:C1518716|HP:0000149|Orphanet:206484|DOID:3578|SCTID:716594002|EFO:1000420|OMIM:424500|NCIT:C39985																		owl:Class
MONDO:0003676	biolink:NamedThing	inferolateral myocardial infarct	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.	mondoexuq1wtf												DOID:5852																		owl:Class
MONDO:0100289	biolink:NamedThing	Goldmann-Favre syndrome	A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).	mondoexuq1wtf	Favre hyaloideoretinal Degeneration|Goldmann-Favre syndrome|retinoschisis with early nyctalopia							http://orcid.org/0000-0001-5208-3432				SCTID:232065000|ICD10:H35.5|GARD:0010781|Orphanet:53540																		owl:Class
MONDO:0008868	biolink:NamedThing	biliary malformation with renal tubular insufficiency		mondoexuq1wtf	cholestatic jaundice and renal tubular insufficiency|biliary malformation with renal tubular insufficiency											MESH:C537726|OMIM:210550|SCTID:235914003|UMLS:C0400972																		owl:Class
MONDO:0005734	biolink:NamedThing	dourine	A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.	mondoexuq1wtf												UMLS:C0013076|SCTID:15566009|MESH:D004313|EFO:0007240																		owl:Class
MONDO:0010312	biolink:NamedThing	radial ray deficiency, X-linked		mondoexuq1wtf	Rrdx|radial ray deficiency, X-linked											OMIM:300378|UMLS:C1845717|MESH:C564523																		owl:Class
MONDO:0003594	biolink:NamedThing	mixed liposarcoma	A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.	mondoexuq1wtf	mixed liposarcoma (morphologic abnormality)|mixed liposarcoma											UMLS:C0334472|ICDO:8855/3|DOID:5703|NCIT:C4253																		owl:Class
MONDO:0005679	biolink:NamedThing	bovine virus diarrhea-mucosal disease	Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.	mondoexuq1wtf												EFO:0007181|UMLS:C0006075|MESH:D001912																		owl:Class
MONDO:0010839	biolink:NamedThing	autosomal dominant congenital benign spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.	mondoexuq1wtf	neuropathy, distal hereditary motor, type 8|spinal muscular atrophy, congenital benign, with contractures|autosomal dominant benign distal spinal muscular atrophy|neuronopathy, distal hereditary motor, type 8|congenital benign spinal muscular atrophy with contractures|neuronopathy, distal hereditary motor, type VIII|HMN8|spinal muscular atrophy, distal, congenital nonprogressive|congenital nonprogressive spinal muscular atrophy											UMLS:C1838492|DOID:0111215|SCTID:763067000|MESH:C563981|Orphanet:1216|ICD10:G12.2|OMIM:600175																		owl:Class
MONDO:0008933	biolink:NamedThing	cephalin lipidosis		mondoexuq1wtf	cephalin lipidosis											OMIM:212800|UMLS:C1859307|MESH:C565872																		owl:Class
MONDO:0017504	biolink:NamedThing	apodia, unilateral		mondoexuq1wtf	congenital absence of foot, unilateral											ICD10:Q72.3|Orphanet:295105																		owl:Class
MONDO:0004527	biolink:NamedThing	congenital granular cell tumor	An instance of granular cell tumor that is present from birth.	mondoexuq1wtf	congenital granular cell tumor											DOID:8303																		owl:Class
MONDO:0001268	biolink:NamedThing	gingival recession	A loss of gum tissue resulting in an exposure of the roots of the teeth.	mondoexuq1wtf	severe gingival recession|localized gingival recession|moderate gingival recession|minimal gingival recession|gingival recession, unspecified|gingival recession|gingival recession, localized											DOID:1134|ICD9:523.22|UMLS:C0017572|ICD9:523.21|ICD10:K06.0|SCTID:59898000|UMLS:C0266916|ICD9:523.23|ICD9:523.2|ICD9:523.24|MESH:D005889|ICD9:523.20|COHD:134386																		owl:Class
MONDO:0011497	biolink:NamedThing	hereditary North American Indian childhood cirrhosis	Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.	mondoexuq1wtf	NORTH American Indian childhood cirrhosis|NAIC											MESH:C565737|UMLS:C1858051|SCTID:699189004|OMIM:604901|Orphanet:168583|ICD10:K74.6																		owl:Class
MONDO:0009600	biolink:NamedThing	metaphyseal dysplasia, anetoderma, and optic atrophy		mondoexuq1wtf	metaphyseal dysplasia, anetoderma, and optic atrophy											UMLS:C1855174|MESH:C565395|OMIM:250450																		owl:Class
MONDO:0014301	biolink:NamedThing	dowling-degos disease 3		mondoexuq1wtf	Dowling-Degos disease 3|DDD3											OMIM:615674|UMLS:C3810286																		owl:Class
MONDO:0007320	biolink:NamedThing	chondrocalcinosis due to apatite crystal deposition		mondoexuq1wtf	chondrocalcinosis due to apatite crystal deposition|familial apatite disease											UMLS:C1861580|MESH:C535939|GARD:0010139|OMIM:118610														https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition				owl:Class
MONDO:0017482	biolink:NamedThing	humeral agenesis/hypoplasia, unilateral		mondoexuq1wtf	humeral intercalary meromelia, unilateral											ICD10:Q71.8|Orphanet:295061																		owl:Class
MONDO:0019489	biolink:NamedThing	diffuse palmoplantar keratoderma - acrocyanosis syndrome	Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	mondoexuq1wtf	diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome											UMLS:CN206272|Orphanet:86918|ICD10:Q82.8																		owl:Class
MONDO:0020273	biolink:NamedThing	disease with potential neoplastic degeneration associated with ocular features		mondoexuq1wtf												Orphanet:98703|UMLS:CN207078																		owl:Class
MONDO:0004200	biolink:NamedThing	superficial urinary bladder carcinoma	A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.	mondoexuq1wtf	superficial urinary bladder carcinoma|superficial bladder cancer|superficial urinary bladder cancer|superficial bladder carcinoma											UMLS:C1336527|SCTID:425231005|DOID:7371|NCIT:C27474																		owl:Class
MONDO:0011256	biolink:NamedThing	emphysema, congenital, with deafness, penoscrotal web, and intellectual disability		mondoexuq1wtf	emphysema, congenital, with deafness, penoscrotal web, and mental retardation|emphysema, congenital, with deafness, penoscrotal web, and intellectual disability											OMIM:602564|UMLS:C1865180|MESH:C566519																		owl:Class
MONDO:0018436	biolink:NamedThing	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.	mondoexuq1wtf	megakaryoblastic AML with t(1;22)(p13;q13)											ICD10:C94.2|SCTID:763796007|Orphanet:402023																		owl:Class
MONDO:0030009	biolink:NamedThing	alopecia-intellectual disability syndrome 4		mondoexuq1wtf	alopecia-intellectual disability syndrome 4|alopecia-mental retardation syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4|APMR4											OMIM:618840																		owl:Class
MONDO:0003936	biolink:NamedThing	invasive tubular breast carcinoma	An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.	mondoexuq1wtf	invasive tubular breast carcinoma|tubular carcinoma of the breast|tubular breast cancer|infiltrating tubular carcinoma of breast|infiltrating tubular breast carcinoma|invasive tubular carcinoma of the breast|tubular carcinoma of breast|invasive tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular breast carcinoma|breast tubular adenocarcinoma											DOID:6587|NCIT:C9135|UMLS:C1328544																		owl:Class
MONDO:0010608	biolink:NamedThing	Hhhh syndrome		mondoexuq1wtf	hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome|Hhhh syndrome											UMLS:C1844019|MESH:C564411|OMIM:306960																		owl:Class
MONDO:0030885	biolink:NamedThing	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia		mondoexuq1wtf	ALS26											OMIM:619133																		owl:Class
MONDO:0016359	biolink:NamedThing	limited systemic sclerosis	Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.	mondoexuq1wtf	SSC without skin involvement|systemic sclerosis sine scleroderma|Scleroderma, sine|systemic sclerosis without skin involvement|progressive systemic sclerosis sine scleroderma											NCIT:C116789|SCTID:128461001|UMLS:C1290138|GARD:0009749|ICD10:M34.0|Orphanet:220407																		owl:Class
MONDO:0017692	biolink:NamedThing	generalized galactose epimerase deficiency		mondoexuq1wtf	generalized epimerase deficiency galactosemia|generalized UDP-galactose-4-epimerase deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency|generalized GALE-D|generalized GALE deficiency											Orphanet:308487|UMLS:C0574089|SCTID:297237003|ICD10:E74.2																		owl:Class
MONDO:0010012	biolink:NamedThing	autoimmune polyendocrinopathy type 2	Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.	mondoexuq1wtf	polyendocrine autoimmune syndrome, type 2|Schmidt syndrome|APS 2|multiple endocrine deficiency syndrome, type 2|PGA 2|APS2|autoimmune polyendocrine syndrome, type II|Schmidt's syndrome|polyglandular deficiency syndrome type 2|diabetes mellitus, Addison disease, myxedema|autoimmune polyglandular syndrome type 2|polyglandular autoimmune syndrome, type 2|APS type 2|diabetes mellitus, Addison's disease, myxedema|autoimmune polyendocrine syndrome type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome											ICD9:258.8|GARD:0007611|Orphanet:3143|OMIM:269200|ICD10:E31.0|DOID:0050168|SCTID:83728000|NCIT:C129728																		owl:Class
MONDO:0001969	biolink:NamedThing	mixed gonadal dysgenesis	A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.	mondoexuq1wtf	gonadal dysgenesis mixed											UMLS:C0018055|GARD:0002539|SCTID:83579008|DOID:14449|MESH:D006060														https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed				owl:Class
MONDO:0019417	biolink:NamedThing	X-linked intellectual disability-precocious puberty-obesity syndrome	X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.	mondoexuq1wtf												UMLS:CN227629|ICD10:Q87.8|Orphanet:85318																		owl:Class
MONDO:0032607	biolink:NamedThing	vertebral anomalies and variable endocrine and T-cell dysfunction		mondoexuq1wtf	VETD|VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION											OMIM:618223|DOID:0070345																		owl:Class
MONDO:0011243	biolink:NamedThing	grange syndrome	Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.	mondoexuq1wtf	grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|GRNG|grange syndrome|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly											SCTID:717824007|Orphanet:79094|OMIM:602531|ICD10:Q87.8|MESH:C566529|UMLS:C1865267																		owl:Class
MONDO:0007114	biolink:NamedThing	angel-shaped phalango-epiphyseal dysplasia	Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	mondoexuq1wtf	ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia|Angel shaped phalangoepiphyseal dysplasia											GARD:0000671|ICD10:Q78.8|MedDRA:10066017|OMIM:105835|MESH:C536361|Orphanet:63442|SCTID:720984008																		owl:Class
MONDO:0022765	biolink:NamedThing	chronic demyelinizing neuropathy with IgM monoclonal		mondoexuq1wtf												GARD:0001352														https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal				owl:Class
MONDO:0018332	biolink:NamedThing	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type		mondoexuq1wtf	MADD, severe neonatal type|glutaric aciduria type 2, severe neonatal type|MAD deficiency, severe neonatal type											UMLS:CN205004|ICD10:E71.3|Orphanet:394529																		owl:Class
MONDO:0011453	biolink:NamedThing	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia		mondoexuq1wtf	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia											MESH:C565783|OMIM:604380|UMLS:C1858422																		owl:Class
MONDO:0032742	biolink:NamedThing	encephalopathy, acute, infection-induced, susceptibility to, 9		mondoexuq1wtf	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9|IIAE9											OMIM:618426																		owl:Class
MONDO:0006275	biolink:NamedThing	lung giant cell carcinoma	A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.	mondoexuq1wtf	giant cell carcinoma of the lung|GCLC|giant cell carcinoma of lung|giant cell lung carcinoma|lung giant cell carcinoma|giant cell carcinoma											ICD9:162.9|EFO:1000332|DOID:5583|NCIT:C4452|UMLS:C0206703|UMLS:C0345960|MESH:D018286|SCTID:254631008|ONCOTREE:GCLC																		owl:Class
MONDO:0010783	biolink:NamedThing	Alzheimer disease, susceptibility to, mitochondrial		mondoexuq1wtf	Alzheimer disease, susceptibility to, mitochondrial											OMIM:502500																		owl:Class
MONDO:0010158	biolink:NamedThing	T-substance anomaly		mondoexuq1wtf	T-substance anomaly											OMIM:276200																		owl:Class
MONDO:0016822	biolink:NamedThing	myalgia-eosinophilia syndrome associated with tryptophan	Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.	mondoexuq1wtf												ICD10:M35.8|Orphanet:2582|MedDRA:10014952																		owl:Class
MONDO:0015768	biolink:NamedThing	trisomy 5p	Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.	mondoexuq1wtf	partial trisomy 5p|Duplication of the short arm of chromosome 5|Duplication 5p|5p trisomy|5p duplication|trisomy type 5p|chromosome 5p duplication|trisomy of the short arm of chromosome 5											Orphanet:1742|GARD:0006093|ICD10:Q92.2																		owl:Class
MONDO:0043120	biolink:NamedThing	male pseudohermaphroditism due to defective lh molecule		mondoexuq1wtf												GARD:0003356|HGNC:6584|MESH:C535692|UMLS:C1835303																		owl:Class
MONDO:0000532	biolink:NamedThing	lung combined type small cell adenocarcinoma	A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.	mondoexuq1wtf												DOID:0050917																		owl:Class
MONDO:0010782	biolink:NamedThing	myopathy, lactic acidosis, and sideroblastic anemia 3		mondoexuq1wtf	MLASA3|myopathy, lactic acidosis, and sideroblastic anemia type 3|myopathy, lactic acidosis, and sideroblastic anemia 3											UMLS:C4225415|OMIM:500011|DOID:0111184																		owl:Class
MONDO:0022699	biolink:NamedThing	cerebral palsy spastic hemiplegic		mondoexuq1wtf	spastic hemiplegic cerebral palsy|spastic hemiplegia cerebral palsy											GARD:0010448														https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic				owl:Class
MONDO:0015570	biolink:NamedThing	isolated congenital auditory ossicle malformation	Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.	mondoexuq1wtf	congenital auditory ossicle malformation without external ear abnormality											Orphanet:162526|ICD10:Q16.3																		owl:Class
MONDO:0014055	biolink:NamedThing	epilepsy, familial adult myoclonic, 4		mondoexuq1wtf	epilepsy, familial ADULT myoclonic, 4|FAME4|cortical myoclonic tremor with epilepsy, familial, 4											OMIM:615127|DOID:0111693|UMLS:C3554560																		owl:Class
MONDO:0000684	biolink:NamedThing	verbal auditory agnosia	An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.	mondoexuq1wtf												DOID:0060154																		owl:Class
MONDO:0022403	biolink:NamedThing	Ahumada Del Castillo syndrome	A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.	mondoexuq1wtf	nonpuerperal galactorrhe amenorrhea|amenorrhea galactorrhea FSH decrease syndrome|galactorrhea amenorrhea without pregnancy|Argonz Del Castillo syndrome|Argonz Ahumada Del Castillo syndrome											GARD:0005763														https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome				owl:Class
MONDO:0020713	biolink:NamedThing	pulmonary venoocclusive disease 1		mondoexuq1wtf	pulmonary venoocclusive disease 1, autosomal dominant|PVOD1											OMIM:265450																		owl:Class
MONDO:0012499	biolink:NamedThing	Buruli ulcer, susceptibility to		mondoexuq1wtf	Mycobacterium ulcerans, susceptibility to|BUD|Buruli ulcer, susceptibility to											OMIM:610446|GARD:0009520																		owl:Class
MONDO:0030840	biolink:NamedThing	mismatch repair cancer syndrome 2		mondoexuq1wtf	MMRCS2|mismatch repair cancer syndrome 2											OMIM:619096																		owl:Class
MONDO:0008366	biolink:NamedThing	red cell permeability defect		mondoexuq1wtf	elliptocytosis with transverse slitlike changes|red cell permeability defect											OMIM:179650|UMLS:C1867340																		owl:Class
MONDO:0007096	biolink:NamedThing	amenorrhea-galactorrhea syndrome		mondoexuq1wtf	amenorrhea-galactorrhea syndrome											UMLS:C0271556|MESH:C537072|SCTID:64678009|ICD9:253.1|OMIM:104600																		owl:Class
MONDO:0011754	biolink:NamedThing	familial hyperreninemic hypoaldosteronism type 2		mondoexuq1wtf	FHHA2|aldosterone synthase deficiency unrelated to the aldosterone synthase gene|hyperreninemic hypoaldosteronism, familial, 2|hyperreninemic hypoaldosteronism, familial, type 2|aldosterone synthase deficiency unrelated to CYP11B2|Fhha2											ICD10:E27.4|UMLS:C1846990|OMIM:606984|MESH:C564638|Orphanet:99764																		owl:Class
MONDO:0004352	biolink:NamedThing	adult brain ependymoma	An ependymoma of the brain occurring in adults.	mondoexuq1wtf	adult brain ependymoma|brain ependymoma											UMLS:C1332186|DOID:7750|NCIT:C9372																		owl:Class
MONDO:0012804	biolink:NamedThing	hypertrophic cardiomyopathy 12	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	mondoexuq1wtf	hypertrophic cardiomyopathy type 12|cardiomyopathy, familial hypertrophic, 12|CSRP3 hypertrophic cardiomyopathy|CMH12|hypertrophic cardiomyopathy caused by mutation in CSRP3|cardiomyopathy, familial hypertrophic, type 12|cardiomyopathy familial hypertrophic 12											UMLS:C2677491|OMIM:612124|DOID:0110318																		owl:Class
MONDO:0033618	biolink:NamedThing	Vissers-Bodmer syndrome		mondoexuq1wtf	VIBOS											OMIM:619033																		owl:Class
MONDO:0012993	biolink:NamedThing	dyschromatosis universalis hereditaria 2		mondoexuq1wtf	dyschromatosis universalis hereditaria 2|DUH2											OMIM:612715|MESH:C567194|UMLS:C2675183																		owl:Class
MONDO:0002568	biolink:NamedThing	tracheal stenosis	Narrowing of the lumen of the trachea.	mondoexuq1wtf	stenosis of trachea											ICD9:519.19|UMLS:C0040583|MESH:D014135|SCTID:11296007|DOID:3227																		owl:Class
MONDO:0008500	biolink:NamedThing	striae distensae, familial		mondoexuq1wtf	striae distensae, familial											UMLS:C1861447|MESH:C566104|OMIM:185200																		owl:Class
MONDO:0035892	biolink:NamedThing	Mills syndrome	A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.	mondoexuq1wtf												Orphanet:94091																		owl:Class
MONDO:0001947	biolink:NamedThing	suppurative thyroiditis	Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.	mondoexuq1wtf	suppurative thyroiditis|infectious thyroiditis|abscess of thyroid|acute suppurative thyroiditis											ICD10:E06.0|MESH:D013969|DOID:14350|UMLS:C0040150|SCTID:25476006|EFO:1001431|NCIT:C129724																		owl:Class
MONDO:0019018	biolink:NamedThing	Tako-tsubo cardiomyopathy	Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.	mondoexuq1wtf	stress cardiomyopathy|Tako-Tsubo syndrome|Takotsubo cardiomyopathy|ampulla cardiomyopathy|Tako tsubo syndrome|Takotsubo syndrome|transient antero-apical dyskinesia|ASC|apical ballooning syndrome|left ventricular transient apical ballooning|broken heart syndrome|acute stress cardiomyopathy|ballooning cardiomyopathy|stress-induced cardiomyopathy|broken-heart syndrome|transient left ventricular apical ballooning syndrome											ICD9:429.83|Orphanet:66529|EFO:1002000|SCTID:441541008|MESH:D054549|UMLS:C1739395|GARD:0009400|COHD:40479589|NCIT:C85181|UMLS:CN205479|ICD10:I42.8																		owl:Class
MONDO:0013279	biolink:NamedThing	long QT syndrome 13	Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.	mondoexuq1wtf	LQT13|long QT syndrome type 13|long QT syndrome 13|long QT syndrome caused by mutation in KCNJ5|KCNJ5 long QT syndrome											UMLS:C3150733|ICD10:I45.8|OMIM:613485|DOID:0110654																		owl:Class
MONDO:0019839	biolink:NamedThing	panhypophysitis		mondoexuq1wtf	Infundibulo-panhypophysitis											ICD10:E23.6|Orphanet:95513																		owl:Class
MONDO:0006758	biolink:NamedThing	female genital tuberculosis	Mycobacterium infections of the female reproductive tract (genitalia, female).	mondoexuq1wtf												SCTID:74181004|MedDRA:10061150|MESH:D014384|EFO:1000935																		owl:Class
MONDO:0011484	biolink:NamedThing	catecholaminergic polymorphic ventricular tachycardia 1	Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.	mondoexuq1wtf	catecholaminergic polymorphic ventricular tachycardia type 1|CPVT1|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|CVPT1|ventricular tachycardia, stress-induced polymorphic											UMLS:C4053736|DOID:0060675|OMIM:604772|NCIT:C123414|ICD10:I47.2																		owl:Class
MONDO:0012492	biolink:NamedThing	restless legs syndrome, susceptibility to, 3		mondoexuq1wtf	restless legs syndrome, susceptibility to, 3|RLS3											GARD:0010270|OMIM:610438																		owl:Class
MONDO:0006471	biolink:NamedThing	tracheal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.	mondoexuq1wtf	trachea adenoid cystic carcinoma|adenoid cystic carcinoma of the trachea|adenoid cystic carcinoma of trachea|tracheal adenoid cystic carcinoma											SCTID:254619006|DOID:4875|UMLS:C0345945|EFO:1000598|NCIT:C6051																		owl:Class
MONDO:0019784	biolink:NamedThing	12q14 microdeletion syndrome	12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	mondoexuq1wtf	Del(12)(q14)|deletion 12q14|osteopoikilosis-short stature-intellectual disability syndrome|monosomy 12q14											UMLS:CN206727|UMLS:C4305140|Orphanet:94063|ICD10:Q93.5|SCTID:719046005|GARD:0013390														https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome				owl:Class
MONDO:0015302	biolink:NamedThing	nodular cutaneous amyloidosis	Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.	mondoexuq1wtf	PLCNA|NLCA|primary localized cutaneous nodular amyloidosis|amyloidosis nodular localized cutaneous|amyloidosis cutis nodularis atrophicans											ICD10:E85.4+|SCTID:716704007|ICD10:L99.0*|MedDRA:10056953|Orphanet:137810|GARD:0010562|UMLS:C0546394|UMLS:C4274331														https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous				owl:Class
MONDO:0012704	biolink:NamedThing	dilated cardiomyopathy 1X	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.	mondoexuq1wtf	cardiomyopathy, dilated, 1X|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, with mild or No proximal muscle weakness|CMD1X|dilated cardiomyopathy type 1X|familial isolated dilated cardiomyopathy caused by mutation in FKTN|cardiomyopathy, dilated, type 1X|FKTN familial isolated dilated cardiomyopathy											DOID:0110444|OMIM:611615|ICD10:I42.0|UMLS:C1969024|MESH:C566907																		owl:Class
MONDO:0100005	biolink:NamedThing	primary mast cell activation syndrome	Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.	mondoexuq1wtf	primary MACS				2018-07-17 21:43:00+00:00																									owl:Class
MONDO:0010849	biolink:NamedThing	palmoplantar keratoderma, Bothnian type		mondoexuq1wtf	palmoplantar keratoderma, Bothnian type|PPKB											OMIM:600231|DOID:0111707|GARD:0001862																		owl:Class
MONDO:0013525	biolink:NamedThing	primary ciliary dyskinesia 16	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.	mondoexuq1wtf	CILD16|ciliary dyskinesia, primary, 16|ciliary dyskinesia, primary, type 16|primary ciliary dyskinesia type 16|ciliary dyskinesia, primary, 16, with or without situs inversus|DNAL1 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAL1|primary ciliary dyskinesia 16 with or without situs inversus											UMLS:C3151460|OMIM:614017|ICD10:Q34.8|DOID:0110613																		owl:Class
MONDO:0018245	biolink:NamedThing	2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	mondoexuq1wtf	Del(2)(p21) without cystinuria											ICD10:Q93.5|Orphanet:369881|UMLS:CN204807																		owl:Class
MONDO:0014235	biolink:NamedThing	chromosome 22q13 duplication syndrome		mondoexuq1wtf	chromosome 22q13 duplication syndrome											OMIM:615538|UMLS:C3809844|DOID:0060437																		owl:Class
MONDO:0001048	biolink:NamedThing	orbital granuloma	A granuloma located on the orbit of the eye.	mondoexuq1wtf												UMLS:C0155262|ICD9:376.11|SCTID:72776003|DOID:10499|ICD10:H05.11|COHD:434953																		owl:Class
MONDO:0020487	biolink:NamedThing	Pontiac fever	Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.	mondoexuq1wtf												Orphanet:99748|NCIT:C128335|SCTID:240447002|MedDRA:10054161|ICD9:041.89|UMLS:C0343528|ICD10:A48.2|DOID:0050150																		owl:Class
MONDO:0044923	biolink:NamedThing	acute myeloid leukemia with mutated NPM1	An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.	mondoexuq1wtf	acute myeloid leukemia with cytoplasmic nucleophosmin|AML with mutated NPM1|NPMc+ AML|acute myeloid leukemia with mutated NPM1											NCIT:C82431|UMLS:C2826177|ONCOTREE:AMLNPM1																		owl:Class
MONDO:0002754	biolink:NamedThing	extramedullary plasmacytoma	A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.	mondoexuq1wtf	plasmacytoma, extramedullary|extramedullary plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|extramedullary plasmacytoma (clinical)|extraosseous plasmacytoma|EP											ICD10:C90.2|ICDO:9734/3|ICD9:203.80|UMLS:C0278619|ICD10:C90.20|ONCOTREE:EP|SCTID:188718006|DOID:3720|NCIT:C4002																		owl:Class
MONDO:0032859	biolink:NamedThing	spermatogenic failure 40		mondoexuq1wtf	SPERMATOGENIC FAILURE 40|SPGF40											OMIM:618664																		owl:Class
MONDO:0013872	biolink:NamedThing	prostate cancer, hereditary, 2	Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.	mondoexuq1wtf	prostate cancer, hereditary, type 2|HPC2|prostate cancer, hereditary, 2|familial prostate cancer caused by mutation in ELAC2|ELAC2 familial prostate cancer											UMLS:C3539120|OMIM:614731																		owl:Class
MONDO:0024864	biolink:NamedThing	medium/large size posterior uveal melanoma		mondoexuq1wtf	medium/large size posterior uveal melanoma											UMLS:C0278868|NCIT:C9090																		owl:Class
MONDO:0009555	biolink:NamedThing	malocclusion and short stature		mondoexuq1wtf	malocclusion and short stature											UMLS:C1855453|MESH:C565421|OMIM:248350																		owl:Class
MONDO:0014571	biolink:NamedThing	optic atrophy 9		mondoexuq1wtf	optic atrophy 9|autosomal recessive isolated optic atrophy caused by mutation in ACO2|OPA9|ACO2 autosomal recessive isolated optic atrophy											DOID:0111442|UMLS:C4085249|OMIM:616289																		owl:Class
MONDO:0015056	biolink:NamedThing	acquired angioedema type 1	Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	mondoexuq1wtf	acquired angioneurotic edema type 1											ICD10:T78.3|Orphanet:100056|UMLS:CN197348																		owl:Class
MONDO:0043209	biolink:NamedThing	albinism	A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.	mondoexuq1wtf	albinism					This groups multiple types, including those restricted to the eyes, the skin or both						SCTID:15890002|GARD:0005768|ICD10:E70.3|UMLS:C0001916|NCIT:C84543|MESH:D000417																		owl:Class
MONDO:0017072	biolink:NamedThing	lumbosacral spina bifida cystica		mondoexuq1wtf												Orphanet:268758																		owl:Class
MONDO:0044311	biolink:NamedThing	brachycephaly, trichomegaly, and developmental delay	BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).	mondoexuq1wtf	Macinnes syndrome|BTDD|brachycephaly, trichomegaly, and developmental delay											UMLS:C4479431|OMIM:617412																		owl:Class
MONDO:0009132	biolink:NamedThing	dysautonomia-like disorder		mondoexuq1wtf	dysautonomia like disorder|dysautonomia-like disorder											MESH:C535728|GARD:0009475|UMLS:C1857153|OMIM:224000														https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder				owl:Class
MONDO:0015030	biolink:NamedThing	sclerosing perineurioma		mondoexuq1wtf												Orphanet:100001|UMLS:CN197320																		owl:Class
MONDO:0008561	biolink:NamedThing	thumb deformity		mondoexuq1wtf	thumb deformity (disease)|thumb absent or hypoplastic|thumb deformity|thumb hypoplastic		thumb deformity (disease)									MESH:C536903|GARD:0008482|HP:0001172|OMIM:188100																		owl:Class
MONDO:0012688	biolink:NamedThing	cataract 17 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.	mondoexuq1wtf	cataract 17, multiple types, with or without microcornea|early-onset non-syndromic cataract caused by mutation in CRYBB1|CTRCT17|cataract 17, multiple types|autosomal recessive congenital nuclear cataract 3|cataract, congenital nuclear, autosomal recessive 3|CATCN3|CRYBB1 early-onset non-syndromic cataract											MESH:C566923|DOID:0110270|UMLS:C1969062|OMIM:611544|ICD10:Q12.0																		owl:Class
MONDO:0010170	biolink:NamedThing	Usher syndrome type 3A	Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.	mondoexuq1wtf	CLRN1 Usher syndrome|USH3A|Usher syndrome caused by mutation in CLRN1|Usher syndrome type IIIA|Usher syndrome, type 3|USHER syndrome, type IIIA|Usher syndrome, type 3A											ICD10:H35.5|OMIM:276902|DOID:0110841																		owl:Class
MONDO:0000770	biolink:NamedThing	shellfish allergy	Allergic reaction to shellfish or shellfish products.	mondoexuq1wtf												MESH:D000067208|UMLS:C0577625|SCTID:300913006|DOID:0060495																		owl:Class
MONDO:0001035	biolink:NamedThing	hypopyon ulcer		mondoexuq1wtf												DOID:10442|ICD9:370.04|ICD10:H16.03|SCTID:6395007|UMLS:C0155070																		owl:Class
MONDO:0033542	biolink:NamedThing	immunodeficiency 70		mondoexuq1wtf	IMMUNODEFICIENCY 70|IMD70											OMIM:618969																		owl:Class
MONDO:0000683	biolink:NamedThing	topographical agnosia	An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.	mondoexuq1wtf												SCTID:83824009|DOID:0060153																		owl:Class
MONDO:0010219	biolink:NamedThing	xylosidase deficiency		mondoexuq1wtf	xylosidase deficiency											MESH:C564730|OMIM:278900|UMLS:C1848407																		owl:Class
MONDO:0006582	biolink:NamedThing	mongolian spot	A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.	mondoexuq1wtf	Mongolian macula|congenital dermal melanocytosis|blue sacral spot											Wikipedia:Mongolian_spot|UMLS:C0265985|NCIT:C3945|DOID:4702|MESH:D049328|SCTID:40467008|EFO:1000736																		owl:Class
MONDO:0016373	biolink:NamedThing	isolated facial myokymia		mondoexuq1wtf						Editor note: todo check MESH						ICD10:G51.4|Orphanet:221106																		owl:Class
MONDO:0032785	biolink:NamedThing	polydactyly, postaxial, type a10		mondoexuq1wtf	PAPA10|POLYDACTYLY, POSTAXIAL, TYPE A10											OMIM:618498																		owl:Class
MONDO:0001518	biolink:NamedThing	spastic entropion		mondoexuq1wtf												SCTID:20828000|COHD:375272|UMLS:C0155190|DOID:12395|ICD9:374.03																		owl:Class
MONDO:0019076	biolink:NamedThing	circumscribed palmoplantar hypokeratosis	Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.	mondoexuq1wtf												Orphanet:69744																		owl:Class
MONDO:0044875	biolink:NamedThing	coronary microvascular disease	A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.	mondoexuq1wtf	microvascular endothelium heart disease|heart disease of microvascular endothelium|CMD|coronary microvascular disease											NCIT:C84478																		owl:Class
MONDO:0023290	biolink:NamedThing	grix Blankenship Peterson syndrome		mondoexuq1wtf	craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation											GARD:0002567														https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome				owl:Class
MONDO:0012954	biolink:NamedThing	colorectal cancer, susceptibility to, 11		mondoexuq1wtf	colorectal cancer, susceptibility to, on chromosome 20P|colorectal cancer, susceptibility to, 11|CRCS11											OMIM:612592																		owl:Class
MONDO:0020772	biolink:NamedThing	epilepsy, juvenile absence, susceptibility to, 1		mondoexuq1wtf	EJA1|JAE1|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1											OMIM:607631|DOID:0111324																		owl:Class
MONDO:0030930	biolink:NamedThing	neurodevelopmental disorder with or without early-onset generalized epilepsy		mondoexuq1wtf	NEDEGE											OMIM:619157																		owl:Class
MONDO:0013629	biolink:NamedThing	intellectual disability, autosomal recessive 16		mondoexuq1wtf	MRT16|intellectual disability, autosomal recessive 16|mental retardation, autosomal recessive 16											OMIM:614208|UMLS:C3280154																		owl:Class
MONDO:0017149	biolink:NamedThing	drug- or toxin-induced pulmonary arterial hypertension	Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.	mondoexuq1wtf	drug- or toxin-induced PAH											ICD10:I27.2|EFO:0009192|Orphanet:275786|UMLS:C0340544																		owl:Class
MONDO:0004376	biolink:NamedThing	infiltrating nipple syringomatous adenoma	An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.	mondoexuq1wtf	nipple syringomatous adenoma|infiltrating nipple syringomatous adenoma											NCIT:C40363|DOID:7839|UMLS:C1518329																		owl:Class
MONDO:0007823	biolink:NamedThing	insulin receptors, familial increase 1N		mondoexuq1wtf	insulin receptors, familial increase IN|insulin receptors, familial increase type 1N											OMIM:147320																		owl:Class
MONDO:0001985	biolink:NamedThing	partial arterial retinal occlusion	A partial occlusion of the retinal artery.	mondoexuq1wtf	partial retinal arterial occlusion|retinal partial arterial occlusion											ICD9:362.33|SCTID:776009|DOID:14522|ICD10:H34.219|UMLS:C0154839|ICD10:H34.21|NCIT:C35192																		owl:Class
MONDO:0006912	biolink:NamedThing	pneumatosis cystoides intestinalis	The presence of gas within the wall of the large or small intestine.	mondoexuq1wtf												MESH:D011006|MedDRA:10049732|DOID:13249|SCTID:17465007|UMLS:C0032266|EFO:1001113|ICD9:569.89																		owl:Class
MONDO:0018218	biolink:NamedThing	autosomal recessive cerebral atrophy		mondoexuq1wtf												ICD10:G31.8|UMLS:CN204742|Orphanet:363969																		owl:Class
MONDO:0018183	biolink:NamedThing	staphylococcal necrotizing pneumonia	Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.	mondoexuq1wtf												Orphanet:36238|ICD10:J15.2|SCTID:763888005																		owl:Class
MONDO:0019931	biolink:NamedThing	Leydig cell hypoplasia due to partial LH resistance		mondoexuq1wtf	46,XY disorder of sex developement due to partial luteinizing hormone resistance|46,XY DSD due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY DSD due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY DSD due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|46,XY disorder of sex developement due to partial LH receptor inactivation											UMLS:CN206848|ICD10:Q56.1|Orphanet:96266																		owl:Class
MONDO:0001216	biolink:NamedThing	pulp degeneration	Deterioration of the normal pulp tissue.	mondoexuq1wtf												ICD10:K04.2|SCTID:22361007|DOID:11189|COHD:435854|ICD9:522.2|UMLS:C0034100																		owl:Class
MONDO:0004760	biolink:NamedThing	urethral false passage		mondoexuq1wtf												COHD:196465|DOID:9339|SCTID:74944002|ICD10:N36.5|ICD9:599.4																		owl:Class
MONDO:0019556	biolink:NamedThing	pressure-induced localized lipoatrophy	Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.	mondoexuq1wtf	semicircular lipoatrophy|lipoatrophia semicircularis											SCTID:238898001|UMLS:CN227652|Orphanet:90160|ICD10:E88.1																		owl:Class
MONDO:0015800	biolink:NamedThing	osteosclerosis-developmental delay-craniosynostosis syndrome	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	mondoexuq1wtf												Orphanet:178377|SCTID:722117000|UMLS:CN200391|ICD10:Q75.8																		owl:Class
MONDO:0006531	biolink:NamedThing	cholesteatoma of attic	A cholesteatoma in the attic	mondoexuq1wtf												EFO:1000676|DOID:10963|ICD10:H71.0|ICD10:H71.00|SCTID:38708003|ICD9:385.31|UMLS:C0155489|COHD:258441																		owl:Class
MONDO:0010050	biolink:NamedThing	spastic pseudosclerosis		mondoexuq1wtf	spastic pseudosclerosis|Corticopallidodegeneration|disseminated encephalomyelopathy											MESH:C563024|UMLS:C0599464|OMIM:270900																		owl:Class
MONDO:0014840	biolink:NamedThing	agammaglobulinemia 8, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.	mondoexuq1wtf	agammaglobulinemia 8, autosomal dominant|AGM8|agammaglobulinemia 8, autosomal dominant; AGM8|TCF3 autosomal agammaglobulinemia|agammaglobulinemia, autosomal dominant, due to TCF3 defect|autosomal agammaglobulinemia caused by mutation in TCF3											UMLS:C4310786|OMIM:616941																		owl:Class
MONDO:0018417	biolink:NamedThing	autosomal recessive spastic paraplegia type 60		mondoexuq1wtf	SPG60											UMLS:CN226122|ICD10:G11.4|Orphanet:401800																		owl:Class
MONDO:0013037	biolink:NamedThing	Giacheti syndrome		mondoexuq1wtf	Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome											MESH:C567864|UMLS:C2752043|OMIM:612917																		owl:Class
MONDO:0100072	biolink:NamedThing	neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts	Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.	mondoexuq1wtf					2019-01-23 23:06:10+00:00	This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo).																								owl:Class
MONDO:0001130	biolink:NamedThing	nasal cavity lymphoma	A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.	mondoexuq1wtf	lymphoma of the nasal cavity|primary nasal cavity lymphoma|nasal cavity lymphoma|lymphoma of nasal cavity											UMLS:C1334921|NCIT:C6074|DOID:10813																		owl:Class
MONDO:0009339	biolink:NamedThing	congenital bile acid synthesis defect 2	Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.	mondoexuq1wtf	congenital bile acid synthesis defect type 2|bile acid synthesis defect, congenital, type 2|CBAS2|congenital bile acid synthesis defect, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|BASD2|AKR1D1 congenital bile acid synthesis defect|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|bile acid synthesis defect, congenital, 2											OMIM:235555|ICD10:K76.8|MESH:C535443|UMLS:C1856127|DOID:0111069|GARD:0010045|Orphanet:79303																		owl:Class
MONDO:0012832	biolink:NamedThing	inflammatory bowel disease 14	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.	mondoexuq1wtf	inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease|inflammatory bowel disease caused by mutation in IRF5|inflammatory bowel disease type 14											DOID:0110895|UMLS:C2677100|MESH:C567383|OMIM:612245																		owl:Class
MONDO:0013715	biolink:NamedThing	amyotrophic lateral sclerosis type 16	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis caused by mutation in SIGMAR1|SIGMAR1 amyotrophic lateral sclerosis|ALS16|amyotrophic lateral sclerosis 16, juvenile|amyotrophic lateral sclerosis 16											DOID:0060207|OMIM:614373|UMLS:C3280587																		owl:Class
MONDO:0020503	biolink:NamedThing	resistance to thyrotropin-releasing hormone syndrome	Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.	mondoexuq1wtf	central hypothyroidism due to TRH receptor deficiency|TRH resistance syndrome											Orphanet:99832|SCTID:725462002|UMLS:CN207394|ICD10:E03.1																		owl:Class
MONDO:0005435	biolink:NamedThing	anti-neutrophil antibody associated vasculitis	Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	mondoexuq1wtf												EFO:0004826																		owl:Class
MONDO:0007951	biolink:NamedThing	masticatory muscles, hypertrophy of		mondoexuq1wtf	masticatory muscles, hypertrophy of|masseter muscle Hypertrophy											SCTID:699649006|OMIM:154850|MESH:C563600																		owl:Class
MONDO:0006770	biolink:NamedThing	giant cell reparative granuloma	A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.	mondoexuq1wtf	central giant cell (reparative) granuloma|central giant cell reparative granuloma of jaw|central giant cell granuloma|giant cell lesion of small bones|GCLSB											ICD10:M27.1|SCTID:15350006|EFO:1000950|MESH:D006101|ICD9:526.3|UMLS:C0162375|DOID:1866|NCIT:C121893																		owl:Class
MONDO:0022067	biolink:NamedThing	Cantu sanchez-corona fragoso syndrome		mondoexuq1wtf	severe mental deficiency, proportionate dwarfism, and delayed sexual maturation|severe mental deficiency proportionate dwarfism and delayed sexual maturation											UMLS:C2930937|MESH:C535571|GARD:0001081														https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome				owl:Class
MONDO:0004145	biolink:NamedThing	meningothelial meningioma	A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.	mondoexuq1wtf	Meningotheliomatous meningioma|meningothelial meningioma (morphologic abnormality)											ICDO:9531/0|NCIT:C4329|EFO:1000372|DOID:7212|UMLS:C0334605																		owl:Class
MONDO:0054729	biolink:NamedThing	spermatogenic failure 25		mondoexuq1wtf	spermatogenic failure 25|SPGF25											OMIM:617960																		owl:Class
MONDO:0025483	biolink:NamedThing	mammary neoplasms, animal	Tumors or cancer of the mammary gland in animals (mammary glands, animal).	mondoexuq1wtf	carcinomas, animal mammary|mammary neoplasm, animal|mammary carcinomas, animal|neoplasm, mammary|mammary neoplasm|animal mammary neoplasms|neoplasm, animal mammary|animal mammary neoplasm|neoplasms, mammary|neoplasms, animal mammary|carcinoma, animal mammary|mammary neoplasms|animal mammary carcinomas|mammary carcinoma, animal|animal mammary carcinoma											MESH:D015674																		owl:Class
MONDO:0030065	biolink:NamedThing	agenesis of corpus callosum, cardiac, ocular, and genital syndrome		mondoexuq1wtf	agenesis of corpus callosum, cardiac, ocular, and genital syndrome|AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME|ACOGS											OMIM:618929																		owl:Class
MONDO:0017852	biolink:NamedThing	infantile spasms-broad thumbs syndrome	A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	mondoexuq1wtf	Tsao Ellingson syndrome|infantile spasms broad thumbs|Tsao-Ellingson syndrome											ICD10:G40.4|UMLS:CN203849|Orphanet:3173|GARD:0003002														https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs				owl:Class
MONDO:0014665	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2V	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.	mondoexuq1wtf	Charcot-Marie-Tooth disease caused by mutation in NAGLU|Charcot-Marie-Tooth neuropathy type 2V|Charcot-Marie-Tooth neuropathy, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2V|Charcot-Marie-Tooth disease, axonal, type 2V|hereditary adult-onset painful axonal polyneuropathy|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V|NAGLU Charcot-Marie-Tooth disease|CMT2V											UMLS:C4225306|Orphanet:447964|ICD10:G60.0|OMIM:616491|DOID:0110178																		owl:Class
MONDO:0007185	biolink:NamedThing	Banki syndrome	Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	mondoexuq1wtf	Banki syndrome|fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)											MESH:C566228|ICD10:Q68.1|Orphanet:1228|OMIM:109300|SCTID:733093004|GARD:0000813|UMLS:C1862319														https://rarediseases.info.nih.gov/diseases/813/banki-syndrome				owl:Class
MONDO:0006179	biolink:NamedThing	desmoplastic ameloblastoma	An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.	mondoexuq1wtf	desmoplastic ameloblastoma											UMLS:C0457533|EFO:1000215|NCIT:C39758																		owl:Class
MONDO:0005256	biolink:NamedThing	moderate heart failure	Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.	mondoexuq1wtf												Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003148																		owl:Class
MONDO:0017730	biolink:NamedThing	metachromatic leukodystrophy, adult form		mondoexuq1wtf	MLD, adult form|arylsulfatase A deficiency, adult form											Orphanet:309271|ICD10:E75.2																		owl:Class
MONDO:0013100	biolink:NamedThing	atrial fibrillation, familial, 8		mondoexuq1wtf	ATFB8|atrial fibrillation, familial, 8											MESH:C567802|OMIM:613055|UMLS:C2751607																		owl:Class
MONDO:0017073	biolink:NamedThing	cervical spina bifida cystica		mondoexuq1wtf												Orphanet:268762																		owl:Class
MONDO:0001457	biolink:NamedThing	secondary vitreoretinal degeneration		mondoexuq1wtf												DOID:12167|ICD9:362.66|ICD10:H35.46|UMLS:C0154859|SCTID:60676002																		owl:Class
MONDO:0001067	biolink:NamedThing	early yaws	Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.	mondoexuq1wtf	bone and joint yaws lesion|initial lesions of yaws|initial frambesial ulcer|primary frambesia|chancre of yaws|bone and joint lesions due to yaws|frambesia, initial or primary											ICD9:102.2|ICD10:A66.0|UMLS:C0275998|SCTID:23191004|ICD10:A66.6|NCIT:C41352|ICD9:102.6|ICD9:102.0|DOID:10568																		owl:Class
MONDO:0032703	biolink:NamedThing	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis		mondoexuq1wtf	SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS|SSASKS											OMIM:618363																		owl:Class
MONDO:0018152	biolink:NamedThing	serpiginous choroiditis	Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.	mondoexuq1wtf	geographic choroiditis|geographic serpiginous choroiditis|geographic helicoid peripapillary choroidopathy|geographic helicoid peripapillary choroidopathy (GHPC)|serpiginous choroidopathy|peripapillary choriopathy											ICD9:363.8|ICD10:H30.8|UMLS:C0729842|GARD:0000031|SCTID:312491004|Orphanet:35686														https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis				owl:Class
MONDO:0008859	biolink:NamedThing	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification		mondoexuq1wtf	cerebral aneurysm-cirrhosis syndrome|berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification											MESH:C565905|UMLS:C1859519|GARD:0008552|OMIM:210050														https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification				owl:Class
MONDO:0013097	biolink:NamedThing	glioma susceptibility 8		mondoexuq1wtf	GLM8|glioma susceptibility 8											OMIM:613033|UMLS:C2751637																		owl:Class
MONDO:0006132	biolink:NamedThing	cervical adenoid basal carcinoma	A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.	mondoexuq1wtf	cervical adenoid basal cancer											NCIT:C40213|EFO:1000160|ONCOTREE:CABC|DOID:6428|UMLS:C1516403																		owl:Class
MONDO:0019769	biolink:NamedThing	X-linked intellectual disability, Sutherland-Haan type		mondoexuq1wtf												UMLS:CN206704|Orphanet:93950																		owl:Class
MONDO:0033658	biolink:NamedThing	neurodevelopmental disorder with seizures and brain atrophy		mondoexuq1wtf	NEDSEBA											OMIM:619072																		owl:Class
MONDO:0013698	biolink:NamedThing	arthrogryposis, distal, type 1B		mondoexuq1wtf	DA1B|arthrogryposis, distal, type 1B											OMIM:614335|DOID:0111598|UMLS:C3280526																		owl:Class
MONDO:0015813	biolink:NamedThing	primary cutaneous marginal zone B-cell lymphoma	Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.	mondoexuq1wtf	PCMZL|salt lymphoma|marginal zone B cell lymphoma of the skin|C-MALT|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin|cutaneous Immunocytoma|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue|skin-associated lymphoid tissue lymphoma											Orphanet:178536|NCIT:C7230|SCTID:404140004|UMLS:C1275321|ICD10:C83.0																		owl:Class
MONDO:0027750	biolink:NamedThing	serpinopathy with toxic serpin polymerization		mondoexuq1wtf												Orphanet:250808																		owl:Class
MONDO:0010218	biolink:NamedThing	46,XX sex reversal 2		mondoexuq1wtf	46,XX sex reversal 2|46,XX SEX reversal 2|SRXX2|46,XX Sex reversal type 2|chromosome 17Q24 Duplication syndrome											OMIM:278850|UMLS:C2749215|DOID:0111763																		owl:Class
MONDO:0001153	biolink:NamedThing	gender dysphoria	A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)	mondoexuq1wtf	transsexualism											DOID:10919|SCTID:93461009|ICD9:302.50|MESH:D000068116																		owl:Class
MONDO:0011552	biolink:NamedThing	schizophrenia 10	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.	mondoexuq1wtf	schizophrenia susceptibility locus, chromosome 15Q15-related|schizophrenia 10|SCZD10|catatonia, periodic											MESH:D012560|OMIM:605419|DOID:0070086																		owl:Class
MONDO:0004503	biolink:NamedThing	upper clivus meningioma	A meningioma that affects the upper clivus.	mondoexuq1wtf	meningioma of upper clivus|meningioma of the upper clivus											NCIT:C5290|DOID:8221|UMLS:C1336871																		owl:Class
MONDO:0020849	biolink:NamedThing	immunodeficiency 57		mondoexuq1wtf	IMMUNODEFICIENCY 57|IMD57											OMIM:618108																		owl:Class
MONDO:0012468	biolink:NamedThing	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa		mondoexuq1wtf	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa											UMLS:C1853197|OMIM:610319|MESH:C537610|GARD:0009968														https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa				owl:Class
MONDO:0010034	biolink:NamedThing	anosmia for butyl mercaptan		mondoexuq1wtf	skunk N-BUTYLMERCAPTAN, inability to smell|skunk N-butyl mercaptan, inability to smell					Editor note: consider obsoleting and replacing with OBA trait						OMIM:270350																		owl:Class
MONDO:0009302	biolink:NamedThing	XY type gonadal dysgenesis-associated anomalies syndrome	Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.	mondoexuq1wtf	gonadal dysgenesis XY type associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis, 10Y type, with associated anomalies											OMIM:233430|MESH:C565536|GARD:0002541|UMLS:C1856272|Orphanet:1770|ICD10:Q99.1														https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies				owl:Class
MONDO:0014085	biolink:NamedThing	hydrocephalus, nonsyndromic, autosomal recessive 2	Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.	mondoexuq1wtf	hydrocephalus, nonsyndromic, autosomal recessive type 2|hydrocephalus, nonsyndromic, autosomal recessive 2|MPDZ congenital hydrocephalus|congenital hydrocephalus caused by mutation in MPDZ|HYC2											UMLS:C3554691|OMIM:615219																		owl:Class
MONDO:0033668	biolink:NamedThing	deafness, autosomal dominant 79		mondoexuq1wtf	DFNA79											OMIM:619086																		owl:Class
MONDO:0007756	biolink:NamedThing	hyperkeratosis lenticularis perstans		mondoexuq1wtf	Flegel disease|hyperkeratosis lenticularis perstans of Flegel|hyperkeratosis lenticularis perstans|Flegel's disease|hyperkeratosis lenticularis perstans (disease)|HLP		hyperkeratosis lenticularis perstans (disease)									MedDRA:10071311|OMIM:144150|MESH:C538377|UMLS:C0263420|SCTID:28488007|Orphanet:409|GARD:0002824|HP:0007570																		owl:Class
MONDO:0016566	biolink:NamedThing	loiasis	Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.	mondoexuq1wtf	Loa loa filariasis|African eye worm											Orphanet:2404|ICD10:B74.3|SCTID:44250009|GARD:0003283|MESH:D008118|DOID:13523|ICD9:125.2|EFO:1000729|NCIT:C34784|MedDRA:10024797|UMLS:C0023968														https://rarediseases.info.nih.gov/diseases/3283/loiasis				owl:Class
MONDO:0007945	biolink:NamedThing	mannose 6-phosphate receptor recognition defect, Lebanese type		mondoexuq1wtf	mannose 6-phosphate receptor recognition defect, Lebanese type|phosphodiester glycoside deficiency											UMLS:C1835134|OMIM:154570|MESH:C563601																		owl:Class
MONDO:0060591	biolink:NamedThing	immunodeficiency, developmental delay, and hypohomocysteinemia		mondoexuq1wtf	immunodeficiency, developmental delay, and hypohomocysteinemia|IMDDHH											UMLS:C4540293|OMIM:617744																		owl:Class
MONDO:0009997	biolink:NamedThing	Roberts syndrome	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.	mondoexuq1wtf	SC phocomelia syndrome (mild variant of Roberts syndrome)|SC pseudothalidomide syndrome|Roberts syndrome/SC phocomelia|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|Appelt-Gerken-Lenz syndrome|pseudothalidomide syndrome|Roberts tetraphocomelia syndrome|SC phocomelia|tetraphocomelia-cleft palate syndrome											NCIT:C126326|MESH:C535687|SCTID:48718006|GARD:0007387|DOID:5325|Orphanet:3103|ICD10:Q73.8														https://github.com/monarch-initiative/mondo/issues/2553				owl:Class
MONDO:0030057	biolink:NamedThing	neurodevelopmental, jaw, eye, and digital syndrome		mondoexuq1wtf	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME|NEDJED|neurodevelopmental, jaw, eye, and digital syndrome											OMIM:618914																		owl:Class
MONDO:0016449	biolink:NamedThing	mid-dermal elastolysis		mondoexuq1wtf												Orphanet:228299																		owl:Class
MONDO:0008367	biolink:NamedThing	red cell phospholipid defect with hemolysis		mondoexuq1wtf	HPCHA|high Red cell phosphatidylcholine hemolytic Anemia|red cell phospholipid defect with hemolysis|phosphatidylcholine Red cell Membrane disorder|leaky Red cell syndrome											GARD:0010013|UMLS:C1867339|OMIM:179700|MESH:C535298														https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis				owl:Class
MONDO:0020430	biolink:NamedThing	cor triatriatum sinister	Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.	mondoexuq1wtf	cor triatriatum sinistrum|divided left atrium											GARD:0012484|SCTID:253353007|ICD10:Q24.2|ICD9:746.89|Orphanet:99099														https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister				owl:Class
MONDO:0007152	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 1	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.	mondoexuq1wtf	TGFB3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|ARVC1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular cardiomyopathy 1|arrhythmogenic right ventricular dysplasia, familial, 1|Uhl anomaly|arrhythmogenic right ventricular dysplasia, familial, type 1|cardiomyopathy, right ventricular dilated|ARVD1											ICD10:I42.8|UMLS:C1862511|OMIM:107970|ICD10:Q24.8|DOID:0110070																		owl:Class
MONDO:0003952	biolink:NamedThing	adult central nervous system choriocarcinoma	A choriocarcinoma of the central nervous system that occurs in an adult.	mondoexuq1wtf	choriocarcinoma of the adult central nervous system|choriocarcinoma of the adult CNS|choriocarcinoma of adult central nervous system|adult central nervous system choriocarcinoma|adult CNS choriocarcinoma|Central nervous system choriocarcinoma|choriocarcinoma of adult CNS|adult choriocarcinoma of the central nervous system|choriocarcinoma of the central nervous system of adults											DOID:6634|NCIT:C5793|UMLS:C1370505																		owl:Class
MONDO:0033202	biolink:NamedThing	deafness, autosomal recessive 109		mondoexuq1wtf	DFNB109|deafness, autosomal recessive 109											OMIM:618013|UMLS:CN248519|DOID:0111639																		owl:Class
MONDO:0014364	biolink:NamedThing	mitochondrial complex III deficiency nuclear type 8	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.	mondoexuq1wtf	mitochondrial complex III deficiency caused by mutation in LYRM7|MC3DN8|LYRM7 mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency, nuclear type 8											DOID:0080117|OMIM:615838|UMLS:C4014440																		owl:Class
MONDO:0008634	biolink:NamedThing	urticaria, familial localized heat		mondoexuq1wtf	urticaria, familial localized heat											OMIM:191950|MESH:C566011|UMLS:C1860551																		owl:Class
MONDO:0018225	biolink:NamedThing	ALK-positive large B-cell lymphoma	Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	mondoexuq1wtf	diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|diffuse large B-cell lymphoma with expression of full-length ALK|ALK+ LBCL|ALK-DLBCL|ALK+ large B-cell lymphoma|ALK-positive large B-cell lymphoma											Orphanet:364043|ICDO:9737/3|UMLS:C1333294|ICD10:C83.3|NCIT:C7225|SCTID:715950008																		owl:Class
MONDO:0001729	biolink:NamedThing	active cochlear Meniere disease		mondoexuq1wtf	active cochlear Meniere disease|active cochlear Meniere's disease|cochlear active Mnire's disease|active Meniere's disease, cochlear											DOID:13492|ICD9:386.02|UMLS:C0155497|SCTID:194349005																		owl:Class
MONDO:0100221	biolink:NamedThing	IFAP syndrome 2		mondoexuq1wtf	ichthyosis follicularis, atrichia, and photophobia syndrome 2|IFAP SYNDROME 2|IFAP2							http://orcid.org/0000-0001-5208-3432				OMIM:619016																		owl:Class
MONDO:0005179	biolink:NamedThing	ovarian adenoma benign	A benign adenoma of ovary	mondoexuq1wtf												EFO:0002507																		owl:Class
MONDO:0044783	biolink:NamedThing	solid papillary breast carcinoma	A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.	mondoexuq1wtf	solid Papillary carcinoma of the breast|solid Papillary breast carcinoma											NCIT:C6870|ONCOTREE:SPC																		owl:Class
MONDO:0022938	biolink:NamedThing	deafness goiter stippled epiphyses		mondoexuq1wtf												GARD:0001689														https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses				owl:Class
MONDO:0009608	biolink:NamedThing	methionine malabsorption syndrome		mondoexuq1wtf	oasthouse urine disease|methionine malabsorption syndrome|Smith-strang disease											SCTID:45812003|UMLS:C0268622|OMIM:250900|MESH:C562682																		owl:Class
MONDO:0007393	biolink:NamedThing	cranioacrofacial syndrome		mondoexuq1wtf	Cranioacrofacial syndrome											Orphanet:1339|OMIM:122850|MESH:C565147|UMLS:C1852512																		owl:Class
MONDO:0006066	biolink:NamedThing	acinar prostate adenocarcinoma, foamy gland variant	A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.	mondoexuq1wtf												UMLS:C1515863|EFO:1000064|NCIT:C39882																		owl:Class
MONDO:0014577	biolink:NamedThing	short-rib thoracic dysplasia 13 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.	mondoexuq1wtf	SRTD13|short-rib thoracic dysplasia 13 with or without polydactyly											DOID:0110093|UMLS:C4225378|ICD10:Q77.2|OMIM:616300																		owl:Class
MONDO:0015580	biolink:NamedThing	distal monosomy 7q36	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	mondoexuq1wtf	distal deletion 7q36|telomeric deletion 7q36|monosomy 7qter|distal monosomy type 7q36											ICD10:Q93.5|SCTID:763529005|Orphanet:1636																		owl:Class
MONDO:0017585	biolink:NamedThing	painful orbital and systemic neurofibromas-marfanoid habitus syndrome		mondoexuq1wtf	multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus											Orphanet:300501|UMLS:CN203391|GARD:0011006														https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome				owl:Class
MONDO:0014437	biolink:NamedThing	Bardet-Biedl syndrome 9	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.	mondoexuq1wtf	Bardet-Biedl syndrome type 9|Bardet-Biedl syndrome caused by mutation in BBS9|BBS9 Bardet-Biedl syndrome|BBS9|Bardet-Biedl syndrome 9											DOID:0110131|OMIM:615986|ICD10:Q87.89|GARD:0010208|MESH:C565918|UMLS:C1859567|EFO:0009027														https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9				owl:Class
MONDO:0015571	biolink:NamedThing	deletion 5q35	Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.	mondoexuq1wtf	Del (5)(q35)|distal 5q deletion|deletion type 5q35|telomeric deletion 5q|monosomy 5q35|Del (5)(qter)											MESH:C537647|Orphanet:1627|ICD10:Q93.5|SCTID:721158009																		owl:Class
MONDO:0020394	biolink:NamedThing	tunnel subaortic stenosis		mondoexuq1wtf												ICD10:Q24.4|Orphanet:99053																		owl:Class
MONDO:0003702	biolink:NamedThing	uterus intravascular leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.	mondoexuq1wtf	intravascular leiomyomatosis of the uterus|uterus intravenous leiomyomatosis|intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of uterus|uterine corpus intravenous leiomyomatosis|intravenous leiomyomatosis of the uterus											DOID:5915|NCIT:C5356																		owl:Class
MONDO:0015275	biolink:NamedThing	partial atrioventricular canal	Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.	mondoexuq1wtf	partial common atrioventricular canal|PAVC|partial atrioventricular canal defect|partial atrioventricular septal defects|partial AVSD											GARD:0004229|SCTID:718216009|MESH:C536112|ICD10:Q21.2|Orphanet:1330														https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal				owl:Class
MONDO:0010459	biolink:NamedThing	amyotrophic lateral sclerosis type 15	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.	mondoexuq1wtf	amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|UBQLN2 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in UBQLN2|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis 15|ALS15											DOID:0060206|UMLS:C3275459|OMIM:300857																		owl:Class
MONDO:0024973	biolink:NamedThing	pneumonia, atypical interstitial, of cattle	A cattle disease of uncertain cause, probably an allergic reaction.	mondoexuq1wtf	Adenomatoses, bovine pulmonary|bovine pulmonary Adenomatoses|atypical interstitial pneumonia of cattle|fever, Fog|adenomatosis, pulmonary, bovine|adenomatosis, bovine pulmonary|bovine pulmonary adenomatosis|pulmonary adenomatosis, bovine|Fog fever|emphysema, acute bovine pulmonary|pulmonary Adenomatoses, bovine											MESH:D011016																		owl:Class
MONDO:0015583	biolink:NamedThing	2p21 microdeletion syndrome	The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.	mondoexuq1wtf	2p21 deletion syndrome|monosomy 2p21|Del(2)(p21)											SCTID:719652007|Orphanet:163693|UMLS:C4304537|UMLS:CN199952|ICD10:Q93.5																		owl:Class
MONDO:0013678	biolink:NamedThing	EDICT syndrome	EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	mondoexuq1wtf	endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|familial keratoconus with cataract|EDICT|keratoconus with cataract|keratoconus, familial, with early-onset anterior polar cataract|autosomal dominant keratoconus with early-onset anterior polar cataracts|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|KTCNCT|EDICT syndrome											SCTID:722439009|UMLS:C3280392|OMIM:614303|Orphanet:293936																		owl:Class
MONDO:0032867	biolink:NamedThing	pancreatic cancer, susceptibility to, 5		mondoexuq1wtf	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5|PNCA5											OMIM:618680																		owl:Class
MONDO:0000983	biolink:NamedThing	exhibitionism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.	mondoexuq1wtf												MESH:D005084|NCIT:C94352|ICD9:302.4|SCTID:58349009|DOID:10236|ICD10:F65.2																		owl:Class
MONDO:0033311	biolink:NamedThing	Joubert syndrome 33		mondoexuq1wtf	Joubert syndrome 33|JBTS33											OMIM:617767|UMLS:CN601375|DOID:0080279																		owl:Class
MONDO:0013055	biolink:NamedThing	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features		mondoexuq1wtf	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features											MESH:C548086|OMIM:612948|UMLS:C2751864|GARD:0010683														https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features				owl:Class
MONDO:0032816	biolink:NamedThing	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY|NEDAHM											OMIM:618569																		owl:Class
MONDO:0020402	biolink:NamedThing	congenital accessory mitral valve tissue	Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.	mondoexuq1wtf												ICD10:Q23.8|Orphanet:99061																		owl:Class
MONDO:0013714	biolink:NamedThing	mannose-binding lectin deficiency		mondoexuq1wtf	lectin complement activation pathway, defect in, 1|MBP deficiency|mannose-binding lectin deficiency|MBLD|MBL deficiency|MBL2 deficiency|mannose-binding protein deficiency											SCTID:703538003|ICD9:279.19|UMLS:C3280586|MESH:C563602|OMIM:614372																		owl:Class
MONDO:0010836	biolink:NamedThing	nanophthalmos 1		mondoexuq1wtf	Nanophthalmia 1|nanophthalmos 1|nanophthalmos, autosomal dominant|microphthalmos, simple, autosomal dominant|NNO1|nanophthalmos with high hyperopia and angle-closure glaucoma											OMIM:600165|MESH:C563983|UMLS:C1838502																		owl:Class
MONDO:0002105	biolink:NamedThing	toxic megacolon	An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.	mondoexuq1wtf												ICD10:K59.31|MESH:D008532|DOID:1770|ICD9:564.7|SCTID:28536002|ICD10:K59.3|UMLS:C0025162																		owl:Class
MONDO:0010834	biolink:NamedThing	hirschsprung disease, susceptibility to, 5		mondoexuq1wtf	Hirschsprung disease, susceptibility to, 5|HSCR5											OMIM:600156																		owl:Class
MONDO:0043726	biolink:NamedThing	multiple organ dysfunction syndrome	The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.	mondoexuq1wtf	multiple organ system failure|failure, multiple organ|multiple organ failures|multiple organ systems failure|organ failure, multiple|multiple organ failure|MODS|multiple systems organ failure|multiple organ dysfunction syndrome|organ dysfunction syndrome, multiple|multi-organ failure|multisystem organ failure|multiorgan failure											MESH:D009102|SCTID:57653000																		owl:Class
MONDO:0013086	biolink:NamedThing	neuroblastoma, susceptibility to, 6		mondoexuq1wtf	NBLST6|neuroblastoma, susceptibility to, 6											OMIM:613017																		owl:Class
MONDO:0021808	biolink:NamedThing	acute cholinergic dysautonomia	A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.	mondoexuq1wtf	ACD											GARD:0009394|MESH:C535672|UMLS:C2930973														https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia				owl:Class
MONDO:0016448	biolink:NamedThing	pseudoxanthoma elasticum-like papillary dermal elastolysis	Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.	mondoexuq1wtf	PXE-PDE|PXE-like papillary dermal elastolysis											SCTID:764105002|Orphanet:228293																		owl:Class
MONDO:0022096	biolink:NamedThing	pyogenic granuloma	A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.	mondoexuq1wtf	Granuloma Telangiecticum|Granuloma pyogenicum|Granuloma Pyogenicum|PG - Pyogenic granuloma|Granuloma telangiectaticum|angiogranulomas|Granuloma, Pyogenic|Lobular capillary hemangioma|Lobular Hemangioma|Capillary Hemangioma, Lobular|hemangioma, Lobular Capillary|Pyogenic granuloma|angiogranuloma|Granulomata Pyogenicum|Capillary hemangioma of granulation tissue type|hemangiomatous Granulation Tissue|Granulation Tissue-Type Hemangioma|Pyogenic Granuloma|Lobular Capillary Hemangioma											GARD:0010963|MESH:D017789|SCTID:200722003|UMLS:C0085653																		owl:Class
MONDO:0013233	biolink:NamedThing	spondyloepimetaphyseal dysplasia, Handigodu type	Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.	mondoexuq1wtf	Handigodu JOINT disease|Hjd|spondyloepimetaphyseal dysplasia, Handigodu type											UMLS:C3150545|OMIM:613343|ICD10:Q77.7|Orphanet:99642																		owl:Class
MONDO:0019659	biolink:NamedThing	Pfeiffer syndrome type 1	Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.	mondoexuq1wtf	classic Pfeiffer syndrome											UMLS:CN206533|ICD10:Q87.0|Orphanet:93258																		owl:Class
MONDO:0023062	biolink:NamedThing	encephalocele anencephaly		mondoexuq1wtf												GARD:0002109														https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly				owl:Class
MONDO:0007058	biolink:NamedThing	acropectorovertebral dysplasia	Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	mondoexuq1wtf	acropectorovertebral dysplasia|ACRPV|F syndrome|acropectorovertebral dysplasia F form											UMLS:C1863307|ICD10:Q74.8|OMIM:102510|MESH:C566319|SCTID:720457000|Orphanet:957|GARD:0000512														https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form				owl:Class
MONDO:0009848	biolink:NamedThing	dissecting cellulitis of the scalp	Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.	mondoexuq1wtf	perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial|dissecting cellulitis of the scalp											MedDRA:10056961|Orphanet:345|ICD9:704.8|MESH:C562486|SCTID:77333008|ICD10:L08.8|UMLS:C0263506|GARD:0001883|OMIM:260910														https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp				owl:Class
MONDO:0006428	biolink:NamedThing	splenic diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma occurring in the spleen.	mondoexuq1wtf	splenic diffuse large B-cell lymphoma|primary splenic diffuse large B-cell lymphoma											UMLS:C2018774|EFO:1000547|NCIT:C7308																		owl:Class
MONDO:0009917	biolink:NamedThing	autosomal recessive pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.	mondoexuq1wtf	autosomal recessive PHA 1|autosomal recessive pseudohypoaldosteronism type 1|generalized pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1, recessive|pseudohypoaldosteronism type 1 autosomal recessive|generalized PHA1|PHA I, autosomal recessive|pseudohypoaldosteronism, type I, autosomal recessive|PHA1B											OMIM:264350|GARD:0004552|Orphanet:171876|DOID:0060854|ICD10:N25.8														https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1				owl:Class
MONDO:0006554	biolink:NamedThing	granuloma annulare	Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.	mondoexuq1wtf	granuloma annulare|Granulome annulare											SCTID:65508009|ICD9:709.8|GARD:0006546|Wikipedia:Granuloma_annulare|EFO:1000704|UMLS:C0085074|MESH:D016460|NCIT:C3470|ICD10:L92.0|DOID:3777														https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare				owl:Class
MONDO:0011637	biolink:NamedThing	Sener syndrome		mondoexuq1wtf	frontonasal dysplasia and dilated Virchow-Robin spaces|Sener syndrome|polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia											GARD:0008451|OMIM:606156|UMLS:C1853616|MESH:C537579														https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome				owl:Class
MONDO:0030047	biolink:NamedThing	microcephaly, developmental delay, and brittle hair syndrome		mondoexuq1wtf	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME|microcephaly, developmental delay, and brittle hair syndrome|MDBH											OMIM:618891																		owl:Class
MONDO:0020548	biolink:NamedThing	ocular pemphigoid	Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.	mondoexuq1wtf												ICD10:L12+|MedDRA:10067776|ICD10:H13.3*|SCTID:34250006|Orphanet:99922																		owl:Class
MONDO:0033561	biolink:NamedThing	deeah syndrome		mondoexuq1wtf	DEEAH SYNDROME|DEEAH|Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities											OMIM:619004																		owl:Class
MONDO:0011589	biolink:NamedThing	microphthalmia with coloboma 2		mondoexuq1wtf	MCOPCB2|microphthalmia, colobomatous, isolated 2|microphthalmia, isolated, with coloboma 2											OMIM:605738|MESH:C565300|UMLS:C1854018																		owl:Class
MONDO:0010169	biolink:NamedThing	Usher syndrome type 2A	Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.	mondoexuq1wtf	USH2A|Usher syndrome, type 2A|US2|USH2A Usher syndrome|Usher syndrome caused by mutation in USH2A|Usher syndrome type IIA|USHER syndrome, type IIA											UMLS:C1848634|MESH:C536490|ICD10:H35.5|OMIM:276901|GARD:0005440|DOID:0110838																		owl:Class
MONDO:0009048	biolink:NamedThing	curved nail of fourth toe		mondoexuq1wtf	curved nail of fourth toe|claw-like fingers and toes											OMIM:219070																		owl:Class
MONDO:0000948	biolink:NamedThing	xerophthalmia	Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.	mondoexuq1wtf	conjunctival xerosis											COHD:373204|ICD9:375.15|NCIT:C34503|MESH:D014985|ICD10:H04.12|ICD10:E50.7|SCTID:363677007|DOID:10138|UMLS:C3665609|UMLS:C0043349																		owl:Class
MONDO:0001237	biolink:NamedThing	appendix lymphoma	A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.	mondoexuq1wtf	appendix lymphoma|primary appendix lymphoma|lymphoma of appendix|appendiceal lymphoma|vermiform appendix lymphoma|lymphoma of the appendix|lymphoma of vermiform appendix											UMLS:C1332328|DOID:11241|NCIT:C5513																		owl:Class
MONDO:0005543	biolink:NamedThing	autoimmune hepatitis type 1	Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).	mondoexuq1wtf	type 1 AIH|autoimmune hepatitis type 1											ICD9:571.49|SCTID:197284004|SCTID:721711009|Orphanet:563576																		owl:Class
MONDO:0003892	biolink:NamedThing	acinar lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)	mondoexuq1wtf	acinar adenocarcinoma of the lung|acinar lung adenocarcinoma|lung acinar adenocarcinoma|acinar adenocarcinoma of lung											DOID:6482|NCIT:C5649|UMLS:C1332137																		owl:Class
MONDO:0011538	biolink:NamedThing	frontoocular syndrome		mondoexuq1wtf	frontoocular syndrome											MESH:C565340|UMLS:C1854405|OMIM:605321																		owl:Class
MONDO:0014906	biolink:NamedThing	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.	mondoexuq1wtf	CMT2A2B|Charcot-Marie-Tooth disease type 2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B											OMIM:617087|UMLS:C4310725|NCIT:C150647|DOID:0111557																		owl:Class
MONDO:0009519	biolink:NamedThing	letterer-Siwe disease	A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.	mondoexuq1wtf	L-S disease|acute disseminated Langerhans cell histiocytosis|letterer-Siwe disease|histiocytosis X, acute disseminated|acute and disseminated Langerhans cell histiocytosis|multifocal multisystem Langerhans cell histiocytosis											OMIM:246400|MedDRA:10024265|Orphanet:99870|NCIT:C3160|ICDO:9754/3|ICD10:C96.0|UMLS:C0023381																		owl:Class
MONDO:0015678	biolink:NamedThing	dysplasia of head of femur, Meyer type	Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	mondoexuq1wtf												Orphanet:168621|UMLS:C4274970|ICD10:Q78.8|SCTID:715861004																		owl:Class
MONDO:0026762	biolink:NamedThing	Wieacker-Wolff syndrome, female-restricted		mondoexuq1wtf	WRWFFR|WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED											OMIM:301041																		owl:Class
MONDO:0008989	biolink:NamedThing	citrulline transport defect		mondoexuq1wtf	citrulline transport defect											UMLS:C1859084|MESH:C536207|GARD:0009949|OMIM:215720														https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect				owl:Class
MONDO:0022089	biolink:NamedThing	Carnevale hernandez castillo syndrome		mondoexuq1wtf	Triphalyngeal thumbs and brachyectrodactyly											GARD:0001117|UMLS:C2930940|MESH:C535585														https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome				owl:Class
MONDO:0022553	biolink:NamedThing	BD syndrome		mondoexuq1wtf												GARD:0000841														https://rarediseases.info.nih.gov/diseases/841/bd-syndrome				owl:Class
MONDO:0008254	biolink:NamedThing	platelet disorder, undefined		mondoexuq1wtf	platelet disorder, undefined											UMLS:C1868258|OMIM:173420|MESH:C566799																		owl:Class
MONDO:0013232	biolink:NamedThing	brachydactylous dwarfism, Mseleni type	Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.	mondoexuq1wtf	brachydactylous dwarfism Mseleni type|Mseleni JOINT disease|brachydactylous dwarfs of Mseleni|Mseleni joint disease											OMIM:613342|GARD:0000960|UMLS:C2931420|MESH:C537086|Orphanet:2619|SCTID:715470008|ICD10:Q77.7																		owl:Class
MONDO:0020747	biolink:NamedThing	sitosterolemia 1		mondoexuq1wtf	STSL1											OMIM:210250																		owl:Class
MONDO:0000895	biolink:NamedThing	nonmucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.	mondoexuq1wtf												DOID:0080186																		owl:Class
MONDO:0010852	biolink:NamedThing	chromosome 8Q12.1-q21.2 deletion syndrome		mondoexuq1wtf	bor-Duane hydrocephalus contiguous Gene syndrome|Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|chromosome 8Q12.1-q21.2 deletion syndrome											UMLS:C1838346|OMIM:600257|GARD:0010002|MESH:C536574																		owl:Class
MONDO:0022799	biolink:NamedThing	cold urticaria	Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.	mondoexuq1wtf	cold contact urticaria|urticaria idiopathic cold|primary idiopathic cold urticaria											GARD:0006131|UMLS:C0221207|SCTID:74774004|EFO:1001881														https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria				owl:Class
MONDO:0022470	biolink:NamedThing	aortic dissection lentiginosis	A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.	mondoexuq1wtf												GARD:0000742														https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis				owl:Class
MONDO:0019742	biolink:NamedThing	late-onset nephronophthisis		mondoexuq1wtf												ICD10:Q61.5|Orphanet:93589																		owl:Class
MONDO:0007816	biolink:NamedThing	immune suppression		mondoexuq1wtf	Iscw|streptococcal cell wall antigen, suppression of immune response to|IS|immune suppression					Editor note: consider obsoleting						OMIM:146850|UMLS:C1840264																		owl:Class
MONDO:0008314	biolink:NamedThing	pronation-supination of the forearm, impairment of		mondoexuq1wtf	pronation-supination of the forearm, impairment of											MESH:C566757|UMLS:C1867726|OMIM:176800																		owl:Class
MONDO:0019779	biolink:NamedThing	Renier-Gabreels-Jasper syndrome	Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	mondoexuq1wtf	Renier Gabreels Jasper syndrome											GARD:0004672|SCTID:723501008|UMLS:CN206720|Orphanet:93975														https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome				owl:Class
MONDO:0017613	biolink:NamedThing	intellectual disability-hypotonia-skin hyperpigmentation syndrome		mondoexuq1wtf	Medrano Roldan syndrome|Medrano-Roldan syndrome											GARD:0003441|Orphanet:3050														https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome				owl:Class
MONDO:0012760	biolink:NamedThing	epilepsy, idiopathic generalized, susceptibility to, 5		mondoexuq1wtf	epilepsy, idiopathic generalized, susceptibility to, 5|EIG5|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10											OMIM:611934|DOID:0111320																		owl:Class
MONDO:0013568	biolink:NamedThing	sick sinus syndrome 3, susceptibility to	Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.	mondoexuq1wtf	familial sick sinus syndrome caused by mutation in MYH6|sick sinus syndrome 3, susceptibility to|MYH6 familial sick sinus syndrome|susceptibility to sick sinus syndrome 3|SSS3											OMIM:614090																		owl:Class
MONDO:0033564	biolink:NamedThing	oocyte maturation defect 8		mondoexuq1wtf	OOCYTE MATURATION DEFECT 8|OOMD8											OMIM:619009																		owl:Class
MONDO:0007630	biolink:NamedThing	North Carolina macular dystrophy	North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.	mondoexuq1wtf	macular dystrophy retinal 1 North Carolina type|foveal dystrophy, progressive|central areolar pigment epithelial dystrophy|foveal dystrophy progressive|North Carolina macular dystrophy|MCDR1|retinal pigment epithelial dystrophy, central|NCMD|North Carolina macular dystrophy, retinal 1|macular dystrophy, retinal, 1, NORTH Carolina type|progressive foveal dystrophy|central retinal pigment epithelial dystrophy|foveal dystrophy, progressive, formerly|retinal pigment epithelial dystrophy central|CAPE dystrophy|caped											OMIM:136550|GARD:0009179|UMLS:C0730294|MESH:C537835|SCTID:312925009|ICD10:H35.5|Orphanet:75327														https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy				owl:Class
MONDO:0006931	biolink:NamedThing	pulmonary coin lesion	A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.	mondoexuq1wtf	coin lesion of lung (context-dependent category)|coin lesion lung|coin lesion of lung|coin lesion of lung (finding)											ICD10:R91.1|DOID:5364|MESH:D003074|UMLS:C0009250|EFO:1001133																		owl:Class
MONDO:0017554	biolink:NamedThing	radio-ulnar synostosis, unilateral		mondoexuq1wtf	radio-ulnar fusion, unilateral											Orphanet:295217|ICD10:Q74.0|UMLS:CN203290																		owl:Class
MONDO:0005936	biolink:NamedThing	recurrent pneumonia	Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.	mondoexuq1wtf	recurrent pneumonia (disease)|recurrent pneumonia		recurrent pneumonia (disease)									SCTID:699014000|HP:0006532|EFO:0007461																		owl:Class
MONDO:0007166	biolink:NamedThing	ataxia with fasciculations		mondoexuq1wtf	ataxia with fasciculations											MESH:C566246|OMIM:108700|UMLS:C1862440																		owl:Class
MONDO:0032777	biolink:NamedThing	generalized epilepsy with febrile seizures plus, type 10		mondoexuq1wtf	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10|Gefs+, Type 10|GEFSP10											OMIM:618482|DOID:0111296																		owl:Class
MONDO:0032786	biolink:NamedThing	Noonan syndrome 11		mondoexuq1wtf	NOONAN SYNDROME 11|NS11											OMIM:618499																		owl:Class
MONDO:0041536	biolink:NamedThing	Far-East scarlet-like fever	A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.	mondoexuq1wtf	FESLF|Izumi fever											UMLS:C0277513|SCTID:47277009																		owl:Class
MONDO:0003320	biolink:NamedThing	blastema predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the blastema component.	mondoexuq1wtf	blastema predominant Wilms tumor|blastema predominant renal Wilm's tumor|blastema predominant kidney Wilms tumor|blastema predominant renal adenosarcoma|blastema predominant renal Wilms' tumor|blastema predominant kidney adenosarcoma|blastema predominant kidney Wilms' tumor|blastema predominant renal Wilms tumor|blastema predominant nephroblastoma											DOID:5182|UMLS:C0279609|NCIT:C9147																		owl:Class
MONDO:0017147	biolink:NamedThing	idiopathic pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.	mondoexuq1wtf	IPAH|primary pulmonary arterial hypertension											ICD10:I27.0|SCTID:697898008|UMLS:CN202574|MedDRA:10065151|UMLS:C3203102|ICD9:416.0|Orphanet:275766																		owl:Class
MONDO:0006593	biolink:NamedThing	pelvic lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.	mondoexuq1wtf	Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis|pelvic lipomatosis (morphologic abnormality)											EFO:1000748|GARD:0007350|DOID:3927|UMLS:C0406608|NCIT:C27486|MESH:C535549														https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis				owl:Class
MONDO:0009764	biolink:NamedThing	ocular motor apraxia, Cogan type	Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.	mondoexuq1wtf	saccade initiation failure, congenital|COMA|oculomotor apraxia, Cogan type|oculomotor apraxia Cogan type|Cogan syndrome type 2|saccade initiation failure congenital|congenital oculomotor apraxia|Cogan's syndrome type 2|ocular motor apraxia											OMIM:257550|Orphanet:1125|SCTID:405809000|ICD10:H51.8|GARD:0000016|MESH:C537423																		owl:Class
MONDO:0015809	biolink:NamedThing	localized pagetoid reticulosis	A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.	mondoexuq1wtf	localised reticulosis|pagetoid reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localized reticulosis											UMLS:C1276140|MESH:D056267|SCTID:404120006|ICD9:202.70|NCIT:C35794|ICD10:C84.0|Orphanet:178517																		owl:Class
MONDO:0006585	biolink:NamedThing	neurodermatitis	Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.	mondoexuq1wtf	lichen simplex Chronicus											EFO:1000740|UMLS:C0149922|DOID:3309|UMLS:C0027822|NCIT:C111963|MESH:D009450|SCTID:267854005																		owl:Class
MONDO:0001261	biolink:NamedThing	Mobitz type II atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)	mondoexuq1wtf	AV block second degree Möbitz type II|type II second degree atrioventricular block|Möbitz type II second degree AV block|type II second degree AV block|second degree atrioventricular block Mobitz type II|Mobitz II|second degree atrioventricular block Möbitz type II|Mobitz II atrioventricular block|Möbitz II|type 2 second degree AV block|Mobitz type II second degree AV block|Mobitz (type) II atrioventricular block|AV block second degree Mobitz type II|type 2 2nd degree AV block											DOID:11312|UMLS:C0155700|SCTID:28189009|COHD:313780|ICD9:426.12|NCIT:C62018																		owl:Class
MONDO:0008349	biolink:NamedThing	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities		mondoexuq1wtf	Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities											UMLS:C1867407|MESH:C566733|OMIM:178650																		owl:Class
MONDO:0004552	biolink:NamedThing	microinvasive cervical squamous cell carcinoma	A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.	mondoexuq1wtf	early invasive cervical squamous cell carcinoma											UMLS:C1333370|DOID:8409|NCIT:C36094																		owl:Class
MONDO:0004083	biolink:NamedThing	Borst-Jadassohn intraepidermal carcinoma	A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.	mondoexuq1wtf	Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn											NCIT:C4110|UMLS:C0334260|UMLS:C2937231|SCTID:403886007|DOID:7039|EFO:1001841|ICDO:8096/0																		owl:Class
MONDO:0003279	biolink:NamedThing	testicular infarct	Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.	mondoexuq1wtf	testicular infarction|infarction of testis											UMLS:C0392041|SCTID:33793000|NCIT:C27617|DOID:5104																		owl:Class
MONDO:0011189	biolink:NamedThing	arrhythmogenic right ventricular dysplasia 4	An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.	mondoexuq1wtf	fanilial arrhythmogenic right ventricular dysplasia 4|ARVD4|ARVC4|arrhythmogenic right ventricular dysplasia, familial, 4|arrhythmogenic right ventricular dysplasia type 4|arrhythmogenic right ventricular cardiomyopathy 4											ICD10:I42.8|OMIM:602087|DOID:0110073|MESH:C566583|UMLS:C1865881																		owl:Class
CL:0002087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0017722	biolink:NamedThing	Sandhoff disease, juvenile form		mondoexuq1wtf	Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant											Orphanet:309162|ICD10:E75.0|UMLS:CN203618																		owl:Class
MONDO:0002787	biolink:NamedThing	adamantinous craniopharyngioma	A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)	mondoexuq1wtf	adamantinous Rathke's pouch tumor|adamantinous Rathke's pouch neoplasm|adamantinous neoplasm of Rathke's pouch|craniopharyngioma, adamantinomatous|adamantinous tumor of Rathke's pouch|adamantinomatous craniopharyngioma|adamantinous craniopharyngioma (morphologic abnormality)											EFO:1000069|ICDO:9351/1|DOID:3846|NCIT:C4726|UMLS:C0431129																		owl:Class
MONDO:0007912	biolink:NamedThing	lithium transport		mondoexuq1wtf	lithium transport											OMIM:152420																		owl:Class
MONDO:0015441	biolink:NamedThing	ring chromosome 7	Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).	mondoexuq1wtf	chromosome 7 ring|rose cluster 7|R7|Ring 7|Ring chromosome 7 syndrome|Ring chromosome type 7											MESH:C537813|GARD:0001345|SCTID:765489006|ICD10:Q93.2|Orphanet:1449|NCIT:C121986														https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7				owl:Class
MONDO:0013091	biolink:NamedThing	glycogen storage disease IXc	A liver PhK deficiency caused by variants in the PHKG2 gene	mondoexuq1wtf	PHKG2 glycogen storage disease|GSD IXc|glycogen storage disease type IXc|GSD type 9C|PHKG2-related glycogen storage disease type IX|GSD type IXc|GSD9C|glycogen storage disease caused by mutation in PHKG2|glycogen storage disease IXc											OMIM:613027|DOID:0111043|MESH:C567809|UMLS:C2751643																		owl:Class
MONDO:0008462	biolink:NamedThing	split lower lip		mondoexuq1wtf	split Lower type lip|split lower lip											OMIM:183400																		owl:Class
MONDO:0008522	biolink:NamedThing	synovial chondromatosis, familial, with dwarfism		mondoexuq1wtf	synovial chondromatosis, familial, with dwarfism|synovial chondromatosis, familial with dwarfism											OMIM:186575|UMLS:C1861304|MESH:C566087|GARD:0007720														https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism				owl:Class
MONDO:0018624	biolink:NamedThing	spontaneous intracranial hypotension		mondoexuq1wtf	spontaneous cerebrospinal fluid leak											UMLS:CN237665|ICD10:G96.0|Orphanet:443180																		owl:Class
MONDO:0024971	biolink:NamedThing	parturient paresis	A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.	mondoexuq1wtf	Pareses, parturient|fever, animal milk|milk fever, animal|animal milk fever|paresis, parturient|parturient Pareses											UMLS:C0030612|SCTID:405256006|MESH:D010319																		owl:Class
MONDO:0054736	biolink:NamedThing	mosaic variegated aneuploidy syndrome 3		mondoexuq1wtf	MVA3|MOSAIC variegated aneuploidy syndrome 3											OMIM:617598																		owl:Class
MONDO:0011563	biolink:NamedThing	fibromatosis, gingival, 2		mondoexuq1wtf	fibromatosis, gingival, hereditary, 2|hereditary gingival fibromatosis, 2|fibromatosis gingival, hereditary, 2|GGF2|HGF2|GINGF2|gingival fibromatosis, 2|fibromatosis, gingival, 2											MESH:C565323|GARD:0002474|OMIM:605544																		owl:Class
MONDO:0006034	biolink:NamedThing	gastric adenosquamous carcinoma	A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.	mondoexuq1wtf	adenosquamous carcinoma of stomach|gastric (stomach) adenosquamous cancer|STAS|gastric adenosquamous carcinoma|stomach adenosquamous carcinoma|adenosquamous carcinoma of the stomach											EFO:1000029|DOID:5635|ONCOTREE:STAS|UMLS:C1333761|NCIT:C5474																		owl:Class
MONDO:0017712	biolink:NamedThing	combined pancreatic lipase-colipase deficiency	"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	mondoexuq1wtf												Orphanet:309111|ICD10:K90.3																		owl:Class
MONDO:0054730	biolink:NamedThing	spermatogenic failure 26		mondoexuq1wtf	spermatogenic failure 26|SPGF26											OMIM:617961|UMLS:CN244573																		owl:Class
MONDO:0002526	biolink:NamedThing	dermal unilateral segmental cavernous angioma		mondoexuq1wtf	unilateral segmental cavernous hemangioma of the skin|unilateral segmental cavernous hemangioma											DOID:3148|UMLS:C0474966																		owl:Class
MONDO:0015020	biolink:NamedThing	intellectual disability, autosomal recessive 59	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.	mondoexuq1wtf	mental retardation, autosomal recessive type 59|intellectual disability, autosomal recessive 59|IMPA1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|mental retardation, autosomal recessive 59|intellectual disability, autosomal recessive type 59|MRT59											UMLS:C4310619|OMIM:617323																		owl:Class
MONDO:0011743	biolink:NamedThing	Alzheimer disease 4	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.	mondoexuq1wtf	Alzheimer's disease type 4|Alzheimer disease 4|AD4|Ad4|Alzheimer disease, familial, 4|familial Alzheimer's disease, type 4|Alzheimer disease type 4|Alzheimer disease familial type 4|Alzheimer's disease 4|familial Alzheimer disease, type 4|Alzheimer disease, familial4											OMIM:606889|GARD:0009469|DOID:0110040|NCIT:C123413|MESH:C536596|UMLS:C1847200																		owl:Class
MONDO:0012266	biolink:NamedThing	preeclampsia/eclampsia 4	Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.	mondoexuq1wtf	preeclampsia caused by mutation in STOX1|STOX1 preeclampsia|PREECLAMPSIA/eclampsia 4|preeclampsia/eclampsia 4|PEE4|Preeclampsia/eclampsia type 4											UMLS:C1836255|OMIM:609404|MESH:C563724																		owl:Class
MONDO:0019484	biolink:NamedThing	hypothalamic hamartomas with gelastic seizures	Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.	mondoexuq1wtf												ICD10:G40.5|Orphanet:86906																		owl:Class
MONDO:0012710	biolink:NamedThing	hirschsprung disease, susceptibility to, 9		mondoexuq1wtf	HSCR9|Hirschsprung disease, susceptibility to, 9											OMIM:611644																		owl:Class
MONDO:0011046	biolink:NamedThing	short stature, Brussels type	This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.	mondoexuq1wtf	familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome|short stature syndrome, Brussels type|Mievis Verellen-Dumoulin syndrome											Orphanet:2867|UMLS:C1832439|SCTID:719213009|MESH:C537121|OMIM:601350|ICD10:Q87.1|GARD:0004838																		owl:Class
MONDO:0004418	biolink:NamedThing	microcystic variant infiltrating bladder urothelial carcinoma		mondoexuq1wtf	infiltrating bladder urothelial carcinoma, microcystic variant											DOID:7971|UMLS:C1512740|NCIT:C39820																		owl:Class
MONDO:0003788	biolink:NamedThing	childhood embryonal testis carcinoma	An embryonal carcinoma that arises from the testis during childhood.	mondoexuq1wtf	pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of the testis|childhood testicular embryonal carcinoma|childhood embryonal carcinoma of testis|pediatric embryonal carcinoma of testis|pediatric embryonal carcinoma of the testis|testicular embryonal carcinoma of childhood											DOID:6162|UMLS:C1333007|NCIT:C6545																		owl:Class
MONDO:0054738	biolink:NamedThing	Fraser syndrome 2		mondoexuq1wtf	Fraser syndrome 2|FRASRS2											OMIM:617666|UMLS:C4540036|DOID:0111407																		owl:Class
MONDO:0044997	biolink:NamedThing	midbrain disease	A disease or disorder that involves the midbrain.	mondoexuq1wtf	midbrain disease|disease or disorder of midbrain|disorder of midbrain|midbrain disease or disorder|disease of midbrain											UMLS:C0521655|SCTID:95641009																		owl:Class
MONDO:0032887	biolink:NamedThing	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity		mondoexuq1wtf	NEDMCMS|Vandervore-Schot Syndrome|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY											OMIM:618730																		owl:Class
MONDO:0018835	biolink:NamedThing	nodular regenerative hyperplasia of the liver	Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.	mondoexuq1wtf	non-cirrhotic nodular transformation|miliary hepatocellular adenomatosis|non-cirrhotic portal hypertension|non-cirrhotic nodulation|nodular regenerative hyperplasia											SCTID:715140008|UMLS:CN205145|Orphanet:48372|GARD:0010929|ICD10:K76.8|ICD9:573.8																		owl:Class
MONDO:0009860	biolink:NamedThing	phenformin 4-hydroxylation		mondoexuq1wtf	phenformin 4-hydroxylation											OMIM:261590																		owl:Class
MONDO:0012821	biolink:NamedThing	colorectal cancer, susceptibility to, 5		mondoexuq1wtf	colorectal cancer, susceptibility to, 5|colorectal cancer, susceptibility to, on chromosome 10|CRCS5											OMIM:612230																		owl:Class
MONDO:0007246	biolink:NamedThing	calcific aortic disease with immunologic abnormalities, familial		mondoexuq1wtf	calcific aortic disease with immunologic abnormalities, familial											UMLS:C1861974|MESH:C566182|OMIM:114065																		owl:Class
MONDO:0006769	biolink:NamedThing	gastroparesis	Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.	mondoexuq1wtf	gastroparesis (disease)|gastroparalysis|gastroparesis syndrome|gastric atonia|gastroparesis		gastroparesis (disease)									MedDRA:10018043|EFO:1000948|DOID:11914|HP:0002578|MESH:D018589|UMLS:C0152020|COHD:195847|SCTID:196753007|ICD9:536.3|ICD10:K31.84																		owl:Class
MONDO:0006546	biolink:NamedThing	erythematosquamous dermatosis	A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.	mondoexuq1wtf	erythematosquamous dermatosis|Other erythematosquamous dermatosis											COHD:140172|ICD9:690|EFO:1000695|NCIT:C34591|ICD9:690.8|UMLS:C0014747|DOID:9097|SCTID:54792008																		owl:Class
MONDO:0009573	biolink:NamedThing	megaepiphyseal dwarfism		mondoexuq1wtf	megaepiphyseal dwarfism											GARD:0003444|OMIM:249230														https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism				owl:Class
MONDO:0060732	biolink:NamedThing	tetraamelia syndrome 2		mondoexuq1wtf	tetraamelia syndrome 2|TETAMS2|tetraamelia syndrome 2 with pulmonary agenesis											OMIM:618021																		owl:Class
MONDO:0001877	biolink:NamedThing	infertility due to extratesticular cause		mondoexuq1wtf	infertility due to extratesticular causes											COHD:201354|SCTID:84245004|UMLS:C0021360|DOID:14096|ICD9:606.8																		owl:Class
MONDO:0016114	biolink:NamedThing	bulbospinal muscular atrophy of childhood	A bulbospinal muscular atrophy that occurs during childhood.	mondoexuq1wtf	childhood bulbospinal muscular atrophy|bulbospinal muscular atrophy of childhood|pediatric bulbospinal muscular atrophy											Orphanet:206704|ICD10:G12.2																		owl:Class
MONDO:0016807	biolink:NamedThing	pure mitochondrial myopathy	Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.	mondoexuq1wtf												Orphanet:254854|SCTID:732245008|UMLS:C4517289|ICD10:G71.3																		owl:Class
MONDO:0005592	biolink:NamedThing	smooth surface dental caries		mondoexuq1wtf												ICD9:521.07|EFO:0006339																		owl:Class
MONDO:0008665	biolink:NamedThing	ptosis-vocal cord paralysis syndrome	Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	mondoexuq1wtf	ptosis vocal cord paralysis|tucker syndrome|vocal cord paralysis and ptosis|congenital bilateral recurrent nerve paralysis and ptosis											UMLS:C1860403|OMIM:193240|MESH:C536923|Orphanet:2997|GARD:0000427																		owl:Class
MONDO:0014972	biolink:NamedThing	chromosome 19q13.11 deletion syndrome, proximal		mondoexuq1wtf												OMIM:617219|UMLS:C4311046																		owl:Class
MONDO:0010044	biolink:NamedThing	hereditary spastic paraplegia 15	Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	mondoexuq1wtf	SPG15|spastic paraplegia and retinal Degeneration|recessive spastic paraplegia with retinal degeneration|spastic paraplegia-retinal degeneration syndrome|hereditary spastic paraplegia type 15|spastic paraplegia 15|hereditary spastic paraparesis type 15|autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|spastic paraplegia and retinal degeneration|autosomal recessive spastic paraplegia 15|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia 15, autosomal recessive|Kjellin syndrome|autosomal recessive spastic paraplegia type 15											ICD10:G11.4|MESH:C536642|Orphanet:100996|OMIM:270700|DOID:0110768|GARD:0009581|UMLS:C1849128|SCTID:709417000																		owl:Class
MONDO:0013952	biolink:NamedThing	peroxisome biogenesis disorder 13A (Zellweger)		mondoexuq1wtf	peroxisome biogenesis disorder, complementation group K|peroxisome biogenesis disorder 13A (Zellweger)|PBD13A											MESH:C566624|DOID:0080487|UMLS:C3554004|OMIM:614887														https://github.com/monarch-initiative/mondo/issues/2632				owl:Class
MONDO:0020356	biolink:NamedThing	coloboma of iris	A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.	mondoexuq1wtf	coloboma of iris (disease)|coloboma of iris|coloboma of the iris		coloboma of iris (disease)									ICD10:Q13.0|GARD:0001434|HP:0000612|SCTID:9446007|MedDRA:10052642|Orphanet:98944|NCIT:C98879																		owl:Class
MONDO:0013980	biolink:NamedThing	palmoplantar keratoderma, punctate type ib		mondoexuq1wtf	PPKP1B|palmoplantar keratoderma, punctate type IB											OMIM:614936|UMLS:C3554145																		owl:Class
MONDO:0018026	biolink:NamedThing	tetraploidy syndrome	The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.	mondoexuq1wtf	tetraploidy											Orphanet:3305|GARD:0005151|ICD10:Q92.7|SCTID:726363000|MESH:D057891|UMLS:C0795884														https://rarediseases.info.nih.gov/diseases/5151/tetraploidy				owl:Class
MONDO:0400004	biolink:NamedThing	phrynoderma	Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.	mondoexuq1wtf								http://orcid.org/0000-0002-7463-6306																						owl:Class
MONDO:0004575	biolink:NamedThing	choline deficiency disease	A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)	mondoexuq1wtf	choline deficiency											UMLS:C0008412|SCTID:238113006|DOID:8456|MESH:D002796|ICD9:266.2																		owl:Class
MONDO:0009652	biolink:NamedThing	mucolipidosis type III gamma	Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.	mondoexuq1wtf	mucolipidosis III, complementation group C|ML 3 gamma|mucolipidosis III gamma|mucolipidosis III, Iranian variant form|ML III gamma|mucolipidosis III, variant form|ML 3C|mucolipidosis type 3 gamma|mucolipidosis 3C|mucolipidosis 3 gamma											OMIM:252605|UMLS:C1854896|NCIT:C129978|Orphanet:423470|ICD10:E77.0|MESH:C565367																		owl:Class
MONDO:0007341	biolink:NamedThing	cleidorhizomelic syndrome	Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	mondoexuq1wtf	cleidorhizomelic syndrome|cleido rhizomelic syndrome|Wallis Zieff Goldblatt syndrome|rhizomelic shortness with clavicular defect|Wallis-Zieff-Goldblatt syndrome|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle											OMIM:119650|UMLS:C1861515|MESH:C536428|SCTID:719471002|Orphanet:1453|GARD:0005532|ICD10:Q77.8														https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome				owl:Class
MONDO:0007238	biolink:NamedThing	amastia	Absence of one or both mammary glands.	mondoexuq1wtf	BNAH1|athelia|absent breasts and nipples|complete absence of breasts|breasts and/or nipples, aplasia or hypoplasia of, 1|amastia|amazia											UMLS:CN033494|NCIT:C118459|OMIM:113700|MESH:C535565|SCTID:75474006|GARD:0009489														https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples				owl:Class
MONDO:0015585	biolink:NamedThing	cryptogenic late-onset epileptic spasms	Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	mondoexuq1wtf	late-onset infantile spasms											Orphanet:163708																		owl:Class
MONDO:0012303	biolink:NamedThing	migraine with or without aura, susceptibility to, 8		mondoexuq1wtf	Mgr8|migraine with or without aura, susceptibility to, type 8|migraine with or without aura, susceptibility to, 8											OMIM:609570																		owl:Class
MONDO:0004164	biolink:NamedThing	lymphoepithelioma-like acinar prostate adenocarcinoma	A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.	mondoexuq1wtf	acinar prostate adenocarcinoma, lymphoepithelioma-like variant|lymphoepithelioma-like variant acinar prostate adenocarcinoma											UMLS:C1515864|DOID:7246|NCIT:C39885																		owl:Class
MONDO:0022972	biolink:NamedThing	diabetic mastopathy	Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).	mondoexuq1wtf	diabetic fibrous mastopathy|lymphocytic mastitis|diabetic fibrous breast disease|lymphocytic mastopathy|sclerosing lymphocytic lobulitis											GARD:0008322|SCTID:724136006|MESH:C537524														https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy				owl:Class
MONDO:0016665	biolink:NamedThing	unclassified vasculitis		mondoexuq1wtf												ICD10:M31.8|Orphanet:251328																		owl:Class
MONDO:0032692	biolink:NamedThing	Galloway-Mowat syndrome 7		mondoexuq1wtf	GALLOWAY-MOWAT SYNDROME 7|GAMOS7											OMIM:618348																		owl:Class
MONDO:0009912	biolink:NamedThing	prolactin deficiency with obesity and enlarged testes		mondoexuq1wtf	prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes											UMLS:C1849698|MESH:C564870|OMIM:264120																		owl:Class
MONDO:0100405	biolink:NamedThing	acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive	Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)	mondoexuq1wtf	AML, Non-MLL MLLT10 Rearrangement|AML, Non-KMT2A MLLT10 rearrangement positive|AML, Non-KMT2A MLLT10 Rearrangement|AML, Non-MLL MLLT10 Rearrangement Positive																													owl:Class
MONDO:0002684	biolink:NamedThing	atypical choroid plexus papilloma	A choroid plexus papilloma characterized by increased mitotic activity.	mondoexuq1wtf	atypical papilloma of choroid plexus|atypical choroid plexus papilloma (morphologic abnormality)|ACPP|atypical CPP|atypical choroid plexus papilloma											UMLS:C1266176|NCIT:C53686|Orphanet:251902|DOID:3544|ICDO:9390/1|ICD10:C71.5|ONCOTREE:ACPP																		owl:Class
MONDO:0023030	biolink:NamedThing	dysmorphism cleft palate loose skin		mondoexuq1wtf												GARD:0002009														https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin				owl:Class
MONDO:0029145	biolink:NamedThing	orofacial cleft 8		mondoexuq1wtf	OROFACIAL CLEFT 8|Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8|OFC8											OMIM:618149|DOID:0080401																		owl:Class
MONDO:0044633	biolink:NamedThing	idiopathic pleuroparenchymal fibroelastosis		mondoexuq1wtf	idiopathic pleuropulmonary fibroelastosis|IPPFE											Orphanet:494428																		owl:Class
MONDO:0001233	biolink:NamedThing	orbital tenonitis		mondoexuq1wtf	tenonitis											ICD9:376.04|UMLS:C0155259|SCTID:8976003|COHD:141022|DOID:11233																		owl:Class
MONDO:0009749	biolink:NamedThing	giant axonal neuropathy 1	Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.	mondoexuq1wtf	GAN giant axonal neuropathy|giant axonal neuropathy type 1|gan|giant axonal neuropathy caused by mutation in GAN|giant axonal neuropathy caused by mutation in gan|neuropathy, giant axonal|GAN1|giant axonal neuropathy 1, autosomal recessive|gan giant axonal neuropathy											ICD10:G60.8|OMIM:256850|Orphanet:643|DOID:0090068|GARD:0006500																		owl:Class
MONDO:0030006	biolink:NamedThing	combined oxidative phosphorylation deficiency 40		mondoexuq1wtf	COXPD40|combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40											Orphanet:570491|OMIM:618835																		owl:Class
MONDO:0033367	biolink:NamedThing	developmental and epileptic encephalopathy, 58		mondoexuq1wtf	EIEE58|DEE58|infantile epileptic encephalopathy 58|epileptic encephalopathy, early infantile, 58											DOID:0080285|UMLS:CN757795|OMIM:617830																		owl:Class
MONDO:0008114	biolink:NamedThing	obsessive-compulsive disorder	A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.	mondoexuq1wtf	obsessive compulsive disorder|obsessive-compulsive disorder|Anancastic neurosis|OCD											COHD:440374|MESH:D009771|EFO:0004242|NCIT:C88411|ICD9:300.3|SCTID:191736004|DOID:10933|ICD10:F42|OMIM:164230																		owl:Class
MONDO:0016440	biolink:NamedThing	elastofibroma dorsi	A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.	mondoexuq1wtf	Elastofibroma											UMLS:C0334460|Orphanet:228243|NCIT:C4245|UMLS:CN226932|ICDO:8820/0																		owl:Class
MONDO:0008454	biolink:NamedThing	spinal intradural arachnoid cysts	Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.	mondoexuq1wtf	arachnoid cysts, spinal intradural|spinal intradural arachnoid cysts											GARD:0009701|OMIM:182990|MESH:C536878														https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts				owl:Class
MONDO:0007550	biolink:NamedThing	epidermolysis bullosa simplex Dowling-Meara type	Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.	mondoexuq1wtf	epidermolysis bullosa simplex, generalized severe|EBS-DM|Dowling-Meara type epidermolysis bullosa simplex|EBS, generalized severe|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa herpetiformis, Dowling-Meara type|epidermolysis bullosa herpetiformis Dowling-Meara type|EBSDM|EBS-gen sev|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, Dowling-Meara type											SCTID:254179000|OMIM:131760|DOID:0060735|ICD10:Q81.0|GARD:0002141|Orphanet:79396|ICD9:771.2														https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type				owl:Class
MONDO:0008549	biolink:NamedThing	thoracic dysostosis, isolated		mondoexuq1wtf	thoracic dysostosis, isolated											UMLS:C1861204|OMIM:187750|MESH:C566063																		owl:Class
MONDO:0015410	biolink:NamedThing	nasal dorsum fistula/cyst		mondoexuq1wtf												Orphanet:141219|ICD10:Q18.8																		owl:Class
MONDO:0008724	biolink:NamedThing	adducted thumbs-arthrogryposis syndrome, Christian type	A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.	mondoexuq1wtf	adducted thumbs syndrome											ICD10:Q74.8|OMIM:201550|Orphanet:2952																		owl:Class
MONDO:0042960	biolink:NamedThing	Sackey-Sakati-Aur syndrome		mondoexuq1wtf	multiple dysmorphic features and pancytopenia|pancytopenia multiple congenital anomalies|Aur syndrome|Sackey Sakati Aur syndrome											MESH:C537219|UMLS:C2931442|GARD:0000315																		owl:Class
MONDO:0007530	biolink:NamedThing	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon		mondoexuq1wtf	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon											OMIM:130200																		owl:Class
MONDO:0010318	biolink:NamedThing	FG syndrome 4	Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.	mondoexuq1wtf	FG syndrome caused by mutation in CASK|intellectual disability, X-linked, with or without Nystagmus|FG syndrome type 4|mental retardation, X-linked, with or without Nystagmus|FG syndrome caused by mutation in cask|FG syndrome 4|FGS4|X-linked intellectual disability with or without nystagmus|cask FG syndrome|CASK FG syndrome											UMLS:CN033933|GARD:0009925|OMIM:300422														https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus				owl:Class
MONDO:0017926	biolink:NamedThing	multiple paragangliomas associated with polycythemia		mondoexuq1wtf	paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis											Orphanet:324299|UMLS:CN204064																		owl:Class
MONDO:0007156	biolink:NamedThing	arthritis, sacroiliac		mondoexuq1wtf	arthritis, sacroiliac											UMLS:C0748473|OMIM:108100|MESH:C563037																		owl:Class
MONDO:0054602	biolink:NamedThing	gaze palsy, familial horizontal, with progressive scoliosis, 2		mondoexuq1wtf	gaze palsy, familial horizontal, with progressive scoliosis, 2|HGPPS2											UMLS:C4479640|OMIM:617542																		owl:Class
MONDO:0006021	biolink:NamedThing	Prinzmetal angina	A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.	mondoexuq1wtf	angina inversa|Prinzmetal's angina|variant angina pectoris|Prinzmetal's variant angina|variant angina					Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries).						SCTID:87343002|ICD9:413.1|GARD:0007465|UMLS:C0002963|Wikipedia:Prinzmetal's_angina|MESH:D000788|UMLS:C2931193|EFO:1000013|DOID:0111151																		owl:Class
MONDO:0011863	biolink:NamedThing	prostate cancer aggressiveness quantitative trait locus on chromosome 19		mondoexuq1wtf	HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome 19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19											OMIM:607592																		owl:Class
MONDO:0017515	biolink:NamedThing	brachydactyly of fingers, unilateral		mondoexuq1wtf	short fingers, unilateral											Orphanet:295128|ICD10:Q71.8																		owl:Class
CL:1000416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0008688	biolink:NamedThing	WT limb-blood syndrome	WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.	mondoexuq1wtf	WT limb-blood syndrome|WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WTsyndrome											Orphanet:3466|UMLS:C1327917|GARD:0000039|ICD10:D61.0|MESH:C536751|SCTID:719019000|OMIM:194350														https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome				owl:Class
MONDO:0010128	biolink:NamedThing	thyrocerebrorenal syndrome	Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.	mondoexuq1wtf	Thyrocerebral-retinal syndrome|cutler-Bass-Romshe syndrome|THYROCEREBRORETINAL syndrome											SCTID:733096007|UMLS:C1848813|OMIM:274240|GARD:0005203|MESH:C536908|Orphanet:3327|UMLS:C4518579																		owl:Class
MONDO:0017562	biolink:NamedThing	congenital patella dislocation, unilateral		mondoexuq1wtf												Orphanet:295234|ICD10:Q74.1																		owl:Class
MONDO:0019177	biolink:NamedThing	odontoleukodystrophy	Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	mondoexuq1wtf	leukodystrophy with oligodontia|dentoleukoencephalopathy											Orphanet:77295|ICD10:E75.2|SCTID:722064003|GARD:0009632																		owl:Class
MONDO:0008528	biolink:NamedThing	tear protein, anodal		mondoexuq1wtf	tear protein, anodal											OMIM:186890|UMLS:C1861283																		owl:Class
MONDO:0009616	biolink:NamedThing	microcephalic primordial dwarfism, Toriello type	Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	mondoexuq1wtf	microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism Toriello type|microcephalic primordial dwarfism and cataracts											UMLS:C1855089|GARD:0003602|ICD10:Q87.1|MESH:C537321|OMIM:251190|Orphanet:2643|SCTID:715482004														https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type				owl:Class
MONDO:0010453	biolink:NamedThing	intellectual disability, X-linked 92		mondoexuq1wtf	mental retardation, X-linked 92|MRX92|intellectual disability, X-linked 92											MESH:C564483|UMLS:C1845144|OMIM:300851																		owl:Class
MONDO:0002449	biolink:NamedThing	nodular degeneration of cornea		mondoexuq1wtf												ICD10:H18.45|SCTID:72620002|DOID:2879|COHD:381296|UMLS:C0155122|ICD9:371.46																		owl:Class
MONDO:0100392	biolink:NamedThing	acute myeloid leukemia, t(11;17)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)	mondoexuq1wtf	AML, t(11;17)																													owl:Class
MONDO:0004572	biolink:NamedThing	cyclothymic disorder	An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.	mondoexuq1wtf	cyclothymia|affective personality disorder|cycloid personality|cyclothymic personality											DOID:845|COHD:440696|ICD10:F34.0|ICD9:301.13|MESH:D003527|ICD9:301.1|ICD9:301.10|SCTID:76105009																		owl:Class
MONDO:0004940	biolink:NamedThing	acute female pelvic peritonitis		mondoexuq1wtf												DOID:9978|ICD9:614.5|ICD10:N73.3|SCTID:85051008|UMLS:C0269032|COHD:199885																		owl:Class
MONDO:0011341	biolink:NamedThing	microcephaly, facial abnormalities, micromelia, and intellectual disability		mondoexuq1wtf	microcephaly, facial abnormalities, micromelia, and mental retardation|microcephaly, facial abnormalities, micromelia, and intellectual disability											UMLS:C1863702|OMIM:603572|MESH:C566361																		owl:Class
MONDO:0008620	biolink:NamedThing	upper limb mesomelic dysplasia	This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.	mondoexuq1wtf	ulna hypoplasia|Fryns Hofkens Fabry syndrome|upper limb mesomelic dysplasia|Fryns-Hofkens-Fabry syndrome|ulnar hypoplasia											MESH:C538069|OMIM:191440|ICD10:Q78.8|GARD:0002408|Orphanet:2497																		owl:Class
MONDO:0015432	biolink:NamedThing	ring chromosome 12	Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.	mondoexuq1wtf	Ring chromosome type 12|chromosome 12 ring|R12|Ring chromosome 12 syndrome|Ring 12											MESH:C538298|Orphanet:1439|UMLS:C0795843|GARD:0001325|ICD10:Q93.2														https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12				owl:Class
MONDO:0000923	biolink:NamedThing	interstitial emphysema	Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.	mondoexuq1wtf	interstitial emphysema of lung|pie|pulmonary interstitial emphysema											DOID:10030|ICD10:J98.2|UMLS:C1370824|SCTID:77690003|ICD9:518.1|NCIT:C34571																		owl:Class
MONDO:0011073	biolink:NamedThing	diabetes mellitus, transient neonatal, 1		mondoexuq1wtf	Tndm1|Tndm|diabetes mellitus, transient neonatal, type 1|Dmtn|diabetes mellitus, transient neonatal, 1											MESH:C563322|OMIM:601410|SCTID:609579009																		owl:Class
MONDO:0012129	biolink:NamedThing	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema		mondoexuq1wtf	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema|LACH											GARD:0010065|OMIM:608809|UMLS:C1837329|MESH:C563852														https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema				owl:Class
MONDO:0003135	biolink:NamedThing	focal embolic glomerulonephritis	Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.	mondoexuq1wtf												UMLS:C0238143|NCIT:C35707|DOID:4779																		owl:Class
MONDO:0012038	biolink:NamedThing	speech-sound disorder		mondoexuq1wtf	SSD|speech-sound disorder											UMLS:C4078288|MESH:C563928|OMIM:608445																		owl:Class
MONDO:0017534	biolink:NamedThing	postaxial polydactyly type B, bilateral		mondoexuq1wtf												Orphanet:295169|UMLS:CN203265|ICD10:Q69.0																		owl:Class
MONDO:0000912	biolink:NamedThing	autosomal recessive nonsyndromic deafness 5	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.	mondoexuq1wtf	autosomal recessive deafness 5|DFNB5|autosomal recessive nonsyndromic deafness type 5|neurosensory nonsyndromic recessive deafness 5|deafness, autosomal recessive 5											ICD10:H90.3|UMLS:C1833319|OMIM:600792|MESH:C563444|DOID:0110507																		owl:Class
MONDO:0012663	biolink:NamedThing	Plasmodium falciparum fever episodes quantitative trait locus 1		mondoexuq1wtf	malaria fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus 1|Pffe1|Plasmodium falciparum fever episodes quantitative trait locus type 1					Editor note consider obsoleting						OMIM:611384																		owl:Class
MONDO:0014159	biolink:NamedThing	autosomal recessive spinocerebellar ataxia 14	Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).	mondoexuq1wtf	autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive cerebellar ataxia-cognitive defect syndrome|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia|SCAR14|spectrin-associated autosomal recessive cerebellar ataxia type 1|autosomal recessive spinocerebellar ataxia type 14|spinocerebellar ataxia, autosomal recessive type 14|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|SPTBN2 autosomal recessive cerebellar ataxia|SPARCA|spinocerebellar ataxia, autosomal recessive 14|SPARCA1											SCTID:763351003|DOID:0080058|UMLS:C3809327|OMIM:615386|ICD10:G11.1|Orphanet:352403																		owl:Class
MONDO:0012542	biolink:NamedThing	psoriasis 8, susceptibility to		mondoexuq1wtf	PSORS8|psoriasis 8, susceptibility to											DOID:0111288|OMIM:610707																		owl:Class
MONDO:0000957	biolink:NamedThing	lacrimal passage granuloma		mondoexuq1wtf	granuloma of lacrimal passages											ICD10:H04.81|ICD9:375.81|DOID:10174|UMLS:C0155253|SCTID:417563003																		owl:Class
MONDO:0012182	biolink:NamedThing	skeletal dysplasia, rhizomelic, with retinitis pigmentosa		mondoexuq1wtf	skeletal dysplasia, rhizomelic, with retinitis pigmentosa											OMIM:609047|UMLS:C1836898|MESH:C563806																		owl:Class
MONDO:0033639	biolink:NamedThing	mitochondrial complex 4 deficiency, nuclear type 10		mondoexuq1wtf	MC4DN10											OMIM:619053																		owl:Class
MONDO:0001038	biolink:NamedThing	perforated corneal ulcer		mondoexuq1wtf												ICD10:H16.07|ICD9:370.06|COHD:376119|SCTID:46606001|DOID:10445|UMLS:C0151844																		owl:Class
MONDO:0008635	biolink:NamedThing	uterine anomalies		mondoexuq1wtf	uterine anomalies											OMIM:192000|MESH:C562565																		owl:Class
MONDO:0017013	biolink:NamedThing	trisomy 8p	Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	mondoexuq1wtf	trisomy type 8p|Duplication 8p											MESH:C538019|ICD10:Q92.2|Orphanet:264450																		owl:Class
MONDO:0011651	biolink:NamedThing	intellectual disability, short stature, facial anomalies, and joint dislocations		mondoexuq1wtf	intellectual disability, short stature, facial anomalies, and JOINT dislocations|mental retardation, short stature, facial anomalies, and JOINT dislocations											MESH:C565248|UMLS:C1853507|OMIM:606220																		owl:Class
MONDO:0011149	biolink:NamedThing	premature aging syndrome, Okamoto type		mondoexuq1wtf	premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay|premature aging Okamoto type|premature aging syndrome, Okamoto type											MESH:C566621|UMLS:C1866183|GARD:0004478|OMIM:601811																		owl:Class
MONDO:0014053	biolink:NamedThing	stomatin-like protein-2, hyperphosphorylation of		mondoexuq1wtf	stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7											OMIM:615121																		owl:Class
MONDO:0032740	biolink:NamedThing	deafness, autosomal recessive 100		mondoexuq1wtf	DFNB100|DEAFNESS, AUTOSOMAL RECESSIVE 100											DOID:0111638|OMIM:618422																		owl:Class
MONDO:0016425	biolink:NamedThing	Hughes-Stovin syndrome	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.	mondoexuq1wtf												ICD10:I28.8|Orphanet:228116|SCTID:721226005|UMLS:CN201382																		owl:Class
MONDO:0009632	biolink:NamedThing	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies		mondoexuq1wtf	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies											OMIM:251700|UMLS:C1968637|MESH:C566884																		owl:Class
MONDO:0032672	biolink:NamedThing	intellectual developmental disorder with cardiac defects and dysmorphic facies		mondoexuq1wtf	INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES|IDDCDF											Orphanet:562569|OMIM:618316																		owl:Class
MONDO:0008870	biolink:NamedThing	bird headed-dwarfism, Montreal type	Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	mondoexuq1wtf	Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type|premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism, Montreal type											Orphanet:2617|GARD:0000895|MESH:C535448|ICD10:Q87.1|OMIM:210700|UMLS:C1859468																		owl:Class
MONDO:0015051	biolink:NamedThing	tubular duplication of the esophagus	Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.	mondoexuq1wtf												Orphanet:100048|ICD10:Q39.8																		owl:Class
MONDO:0011406	biolink:NamedThing	cholesteatoma, congenital		mondoexuq1wtf	cholesteatoma, congenital											OMIM:604183|MESH:C562858|SCTID:232262007																		owl:Class
MONDO:0010019	biolink:NamedThing	secretory component deficiency		mondoexuq1wtf	IgA deficiency, secretory|secretory component deficiency											SCTID:234554004|OMIM:269650|ICD9:279.03|MESH:C562869|UMLS:C0398709																		owl:Class
MONDO:0008949	biolink:NamedThing	cerebral malformation, seizures, hypertrichosis, and overlapping fingers		mondoexuq1wtf	Muller Barth Menger syndrome|cerebral malformation, seizures, hypertrichosis, and overlapping fingers											UMLS:C1859259|MESH:C537370|OMIM:213820|GARD:0003812																		owl:Class
MONDO:0022694	biolink:NamedThing	cerebral calcifications opalescent teeth phosphaturia		mondoexuq1wtf												GARD:0001202														https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia				owl:Class
MONDO:0009432	biolink:NamedThing	hypopituitarism, congenital, with central diabetes insipidus		mondoexuq1wtf	hypopituitarism, congenital, with central diabetes insipidus											MESH:C565477|OMIM:241540|UMLS:C1855800																		owl:Class
MONDO:0027751	biolink:NamedThing	serpinopathy with loss of serpin function		mondoexuq1wtf												Orphanet:250811																		owl:Class
MONDO:0004764	biolink:NamedThing	fibular collateral ligament bursitis		mondoexuq1wtf												DOID:9358|UMLS:C0158316|SCTID:77323000|ICD9:726.63																		owl:Class
MONDO:0010596	biolink:NamedThing	membranoproliferative glomerulonephritis, X-linked		mondoexuq1wtf	Mesangiocapillary glomerulonephritis, X-linked|membranoproliferative glomerulonephritis, X-linked											UMLS:C1844501|OMIM:305800|MESH:C564423																		owl:Class
MONDO:0005755	biolink:NamedThing	equine infectious anemia	Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.	mondoexuq1wtf												UMLS:C0014661|EFO:0007263|MESH:D004859																		owl:Class
MONDO:0009775	biolink:NamedThing	Oguchi disease-1	Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.	mondoexuq1wtf	CSNBO1|Oguchi disease 1|congenital stationary night blindness Oguchi type 1|Oguchi disease type 1|night blindness, congenital stationary, Oguchi type 1|SAG Oguchi disease|Oguchi disease caused by mutation in SAG											DOID:0110712|OMIM:258100																		owl:Class
MONDO:0032818	biolink:NamedThing	neurodevelopmental disorder with cerebellar hypoplasia and spasticity		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY|NEDCHS											OMIM:618572																		owl:Class
MONDO:0016526	biolink:NamedThing	trisomy 9p	Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.	mondoexuq1wtf	trisomy of the short arm of chromosome 9|trisomy type 9p|Duplication 9p|Duplication of the short arm of chromosome 9											Orphanet:236|UMLS:C0265428|ICD10:Q92.2																		owl:Class
MONDO:0001098	biolink:NamedThing	separation anxiety disorder	An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.	mondoexuq1wtf												SCTID:11806006|NCIT:C35014|MESH:D001010|EFO:1001916|DOID:10685																		owl:Class
MONDO:0011055	biolink:NamedThing	distal monosomy 10p	Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	mondoexuq1wtf	DiGeorge syndrome/velocardiofacial syndrome complex 2|DiGeorge syndrome/velocardiofacial syndrome Complex type 2|Dgs2|DiGeorge syndrome type 2|monosomy 10p|monosomy 10pter|distal monosomy type 10p|10p monosomy|deletion 10p|partial monosomy 10p|10p13-p14 Deletion syndrome|telomeric deletion 10p|chromosome 10p deletion|10p deletion|distal 10p deletion											ICD10:Q93.5|UMLS:C1832431|NCIT:C130982|GARD:0001323|SCTID:719686003|UMLS:C4304502|Orphanet:1580|OMIM:601362|MESH:C563337																		owl:Class
MONDO:0025066	biolink:NamedThing	epidermitis, exudative, of swine	An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)	mondoexuq1wtf	Epidermitis, exudative of swine|disease, greasy pig|swine exudative Dermatitides|greasy pig disease|swine exudative dermatitis|exudative dermatitis of swine											UMLS:C0014521|MESH:D004818																		owl:Class
MONDO:0060489	biolink:NamedThing	46,XX sex reversal 4		mondoexuq1wtf	SRXX4|46,XX Sex reversal, Sry-Negative|46,XX SEX reversal 4											DOID:0111764|OMIM:617480																		owl:Class
MONDO:0022875	biolink:NamedThing	cortada Koussef Matsumoto syndrome		mondoexuq1wtf												GARD:0001546														https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome				owl:Class
MONDO:0022444	biolink:NamedThing	amyloidosis bronchopulmonary	Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.	mondoexuq1wtf												GARD:0001026														https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary				owl:Class
MONDO:0007330	biolink:NamedThing	congenital pseudoarthrosis of clavicle	Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.	mondoexuq1wtf	congenital pseudarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital|congenital pseudoarthrosis of the clavicle											ICD10:Q74.0|SCTID:70794004|OMIM:118980|MESH:C562548|Orphanet:66630																		owl:Class
MONDO:0022909	biolink:NamedThing	cutis laxa osteoporosis		mondoexuq1wtf												GARD:0001637														https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis				owl:Class
MONDO:0011158	biolink:NamedThing	autoimmune lymphoproliferative syndrome type 1		mondoexuq1wtf	autoimmune lymphoproliferative syndrome, type I, autosomal recessive|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type 1A|autoimmune lymphoproliferative syndrome|Canale-Smith syndrome|ALPS|autoimmune lymphoproliferative syndrome, type I, autosomal dominant											SCTID:702444009|ICD9:279.41|OMIM:601859																		owl:Class
MONDO:0007421	biolink:NamedThing	deafness-ear malformation-facial palsy syndrome	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.	mondoexuq1wtf	deafness, conductive stapedial, with EAR malformation and facial palsy|Sellars-Beighton syndrome											ICD10:Q87.0|MESH:C565123|SCTID:716243005|OMIM:124490|Orphanet:3232																		owl:Class
MONDO:0002027	biolink:NamedThing	avoidant personality disorder	A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.	mondoexuq1wtf	anxious personality disorder											SCTID:231528008|ICD9:301.82|NCIT:C92636|DOID:1509|COHD:437524|ICD10:F60.6																		owl:Class
MONDO:0001375	biolink:NamedThing	bladder trigone cancer	A malignant neoplasm involving the trigone of urinary bladder.	mondoexuq1wtf	malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder|trigone of urinary bladder cancer|cancer of trigone of urinary bladder											UMLS:C0496826|SCTID:188239000|DOID:11813|ICD10:C67.0|ICD9:188.0																		owl:Class
MONDO:0017111	biolink:NamedThing	isolated Dandy-Walker malformation without hydrocephalus		mondoexuq1wtf												ICD10:Q03.1|Orphanet:269215																		owl:Class
MONDO:0011288	biolink:NamedThing	spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal		mondoexuq1wtf	spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal											MESH:C566409|OMIM:603117|UMLS:C1864185																		owl:Class
MONDO:0006720	biolink:NamedThing	cystic, mucinous, and serous neoplasm	Neoplasms containing cyst-like formations or producing mucin or serum.	mondoexuq1wtf												EFO:1000889|MESH:D018297																		owl:Class
MONDO:0009429	biolink:NamedThing	hypophosphatemia, renal, with intracerebral calcifications		mondoexuq1wtf	hypophosphatemia, renal, with intracerebral calcifications											MESH:C565478|UMLS:C1855809|OMIM:241519																		owl:Class
MONDO:0015349	biolink:NamedThing	progressive cavitating leukoencephalopathy	Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	mondoexuq1wtf												ICD10:E75.2|Orphanet:139447|SCTID:719267003|UMLS:C4304840																		owl:Class
MONDO:0018811	biolink:NamedThing	congenital portosystemic shunt	Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.	mondoexuq1wtf	congenital portosystemic venous fistula											Orphanet:480531																		owl:Class
MONDO:0007177	biolink:NamedThing	auriculoosteodysplasia	Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.	mondoexuq1wtf	multiple osseous dysplasia, characteristic ear shape, and short stature|auriculo-osteodysplasia|auriculoosteodysplasia											MESH:C538271|UMLS:C1862381|Orphanet:114|GARD:0008663|ICD10:Q87.5|OMIM:109000														https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia				owl:Class
MONDO:0030931	biolink:NamedThing	proteasome-associated autoinflammatory syndrome 4		mondoexuq1wtf	proteasome-associated autoinflammatory syndrome 4|PRAAS4											OMIM:619183																		owl:Class
MONDO:0009630	biolink:NamedThing	microphthalmia, isolated, with coloboma 4		mondoexuq1wtf	MCOPCB4|microphthalmia, isolated, with coloboma 4|microphthalmia, isolated, with coloboma type 4|microphthalmia with colobomatous cyst											SCTID:715771008|UMLS:C1855053|OMIM:251505																		owl:Class
MONDO:0005672	biolink:NamedThing	blastomycosis	Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.	mondoexuq1wtf	Blastomyces dermatitidis caused disease or disorder|Blastomyces dermatitidis infection|North American blastomycosis|Blastomyces dermatitidis disease or disorder|Blastomyces dermatitidis infectious disease|Gilchrist's disease|blastomycotic infection|Chicago disease|infection by Blastomyces dermatitidis											SCTID:191950004|GARD:0005931|COHD:433146|ICD10:B40.9|ICD9:116.0|NCIT:C34429|UMLS:C0005717|ICD9:116|CSP:1988-4119|ICD10:B40|DOID:12663|EFO:0007174|MESH:D001759|UMLS:C0005716														https://rarediseases.info.nih.gov/diseases/5931/blastomycosis				owl:Class
MONDO:0017478	biolink:NamedThing	amelia of upper limb, unilateral		mondoexuq1wtf												Orphanet:295053|ICD10:Q71.0																		owl:Class
MONDO:0003918	biolink:NamedThing	angiomatous meningioma	A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.	mondoexuq1wtf	angiomatous meningioma (morphologic abnormality)											DOID:6548|ICDO:9534/0|EFO:1000086|UMLS:C0334608|NCIT:C4332																		owl:Class
MONDO:0018499	biolink:NamedThing	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy		mondoexuq1wtf	DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy											Orphanet:423712|ICD10:Q24.8																		owl:Class
MONDO:0011349	biolink:NamedThing	osteoma of cranial vault, familial		mondoexuq1wtf	osteoma of cranial vault, familial											MESH:C566356|UMLS:C1863677|OMIM:603600																		owl:Class
MONDO:0007769	biolink:NamedThing	hyperpigmentation of eyelid	Over-production of pigment in the eyelid.	mondoexuq1wtf	dyspigmentation of eyelid|hyperpigmentation of eyelids											ICD10:H02.71|MESH:C562400|EFO:1000711|DOID:10122|UMLS:C0155211|SCTID:41115008|ICD9:374.52|COHD:440112|OMIM:145100																		owl:Class
MONDO:0016498	biolink:NamedThing	acute pure sensory neuropathy		mondoexuq1wtf	acute pure sensory GBS|acute pure sensory Guillain-Barré syndrome|acute pure sensory Guillain-BarrC) syndrome											Orphanet:231450|UMLS:CN201501|ICD10:G61.0																		owl:Class
MONDO:0013567	biolink:NamedThing	atrial septal defect 3	Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.	mondoexuq1wtf	atrial septal defect type 3|atrial heart septal defect type 3|MYH6 atrial heart septal defect|atrial septal defect 3|ASD3|atrial heart septal defect caused by mutation in MYH6											ICD10:Q21.1|UMLS:C3279790|MESH:C563540|DOID:0110108|OMIM:614089																		owl:Class
MONDO:0004400	biolink:NamedThing	malignant type A thymoma	A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	mondoexuq1wtf	malignant type A thymoma|thymoma, medullary, malignant											DOID:7927|ICDO:8581/3|UMLS:C0279707|NCIT:C7999																		owl:Class
MONDO:0012870	biolink:NamedThing	chromosome 2q31.2 deletion syndrome		mondoexuq1wtf	chromosome 2q31.2 deletion syndrome											MESH:C567344|DOID:0060416|UMLS:C2676724|OMIM:612345																		owl:Class
MONDO:0015796	biolink:NamedThing	acute lung injury	A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).	mondoexuq1wtf												EFO:0004610|MESH:D055371|NCIT:C155766|SCTID:315345002|Orphanet:178320|MedDRA:10069351																		owl:Class
MONDO:0019982	biolink:NamedThing	bilateral multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.	mondoexuq1wtf	bilateral MCDK|PUJO|MRD|bilateral multicystic renal dysplasia|Pelvi-ureteric junction obstruction											SCTID:717749002|GARD:0009517|ICD10:Q61.4|Orphanet:97364																		owl:Class
MONDO:0032691	biolink:NamedThing	Galloway-Mowat syndrome 6		mondoexuq1wtf	GALLOWAY-MOWAT SYNDROME 6|GAMOS6											OMIM:618347																		owl:Class
MONDO:0017642	biolink:NamedThing	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome		mondoexuq1wtf												UMLS:CN227166|ICD10:Q87.8|Orphanet:3067																		owl:Class
MONDO:0016489	biolink:NamedThing	delta-beta-thalassemia	Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.	mondoexuq1wtf												ICD10:D56.2|MESH:C562716|MedDRA:10012236|SCTID:16360009|ICD9:282.49|Orphanet:231237|NCIT:C172823																		owl:Class
MONDO:0001766	biolink:NamedThing	eversion of lacrimal punctum		mondoexuq1wtf												ICD9:375.51|DOID:13651|SCTID:28244003|COHD:374952|ICD10:H04.52|UMLS:C0155243																		owl:Class
MONDO:0024521	biolink:NamedThing	aortic aneurysm, familial abdominal, 1		mondoexuq1wtf	aneurysm, abdominal aortic|abdominal aortic aneurysm|aortic aneurysm, familial abdominal, 1|AAA1											OMIM:100070																		owl:Class
MONDO:0015045	biolink:NamedThing	alpha-heavy chain disease	Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.	mondoexuq1wtf	alpha chain disease|Alpha-HCD|Mediterraneanl lymphoma|Mediterranean abdominal lymphoma|Immunoproliferative small intestinal disease|IPSID|Mediterranean lymphoma|Seligmann's disease|Alpha heavy chain disease											DOID:0060126|Orphanet:100025|ICDO:9764/3|NCIT:C3132|UMLS:C0021071|ICD10:C88.3|ICDO:9760/3|EFO:1001798|MESH:D007161																		owl:Class
MONDO:0026426	biolink:NamedThing	X inactivation, familial skewed, 2		mondoexuq1wtf	X-inactivation, familial skewed, 2|X INACTIVATION, FAMILIAL SKEWED, 2|SXI2											OMIM:300179																		owl:Class
MONDO:0013508	biolink:NamedThing	myopia 19, autosomal dominant		mondoexuq1wtf	myopia 19, autosomal dominant|MYP19											UMLS:C3151410|OMIM:613969																		owl:Class
MONDO:0020386	biolink:NamedThing	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis		mondoexuq1wtf	DORV with subaortic or doubly committed VSD with pulmonary stenosis|double outlet right ventricle, Fallot type|DORV, Fallot type											SCTID:253298003|ICD10:Q20.1|Orphanet:99043|ICD10:Q21.3																		owl:Class
MONDO:0010872	biolink:NamedThing	parotid salivary glands, polycystic dysgenetic disease of		mondoexuq1wtf	parotid salivary glands, polycystic dysgenetic disease OF|PDDP											OMIM:600343																		owl:Class
MONDO:0030046	biolink:NamedThing	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity		mondoexuq1wtf	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY|neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity|NEDBASS											OMIM:618890																		owl:Class
MONDO:0011857	biolink:NamedThing	atrial fibrillation, familial, 3	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.	mondoexuq1wtf	KCNQ1 familial atrial fibrillation|familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, type 3|ATFB3|atrial fibrillation, familial, 3											UMLS:C1837014|MESH:C563817|OMIM:607554																		owl:Class
MONDO:0100024	biolink:NamedThing	self-limited familial and non-familial infantile seizures	This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.	mondoexuq1wtf					2018-06-22 23:46:09+00:00																									owl:Class
MONDO:0003470	biolink:NamedThing	cellular ependymoma	An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)	mondoexuq1wtf												DOID:5500|UMLS:C1384403|NCIT:C4713																		owl:Class
MONDO:0008128	biolink:NamedThing	ophthalmoplegia, familial static		mondoexuq1wtf	ophthalmoplegia, familial static|external ophthalmoplegia, nonprogressive, congenital hereditary											MESH:C563500|UMLS:C1833839|OMIM:165000																		owl:Class
MONDO:0006935	biolink:NamedThing	pulmonary subvalvular stenosis	The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.	mondoexuq1wtf	infundibular pulmonic stenosis, congenital|pulmonary infundibular stenosis|infundibular pulmonic stenosis|subvalvular pulmonic stenosis|congenital infundibular stenosis											NCIT:C34961|ICD10:Q24.3|EFO:1001137|MESH:D011662|ICD9:746.83|DOID:8861|SCTID:204370002																		owl:Class
MONDO:0030873	biolink:NamedThing	cardiofacioneurodevelopmental syndrome		mondoexuq1wtf	CFNDS											OMIM:619123																		owl:Class
MONDO:0500018	biolink:NamedThing	acute fibrinous and organizing pneumonia	A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.	mondoexuq1wtf	AFOP							http://orcid.org/0000-0001-5839-2535																						owl:Class
MONDO:0008354	biolink:NamedThing	purpura simplex		mondoexuq1wtf	purpura simplex											GARD:0007508|ICD9:287.2|MESH:C536249|UMLS:C0272309|OMIM:179000|SCTID:277791008																		owl:Class
MONDO:0004472	biolink:NamedThing	breast columnar cell mucinous carcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.	mondoexuq1wtf	breast columnar cell mucinous carcinoma											DOID:8130|UMLS:C1511305|NCIT:C40355																		owl:Class
MONDO:0011404	biolink:NamedThing	Caronte		mondoexuq1wtf	Car|Caronte					Editor note: TODO check						OMIM:604172																		owl:Class
MONDO:0004136	biolink:NamedThing	ovarian endometrioid cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.	mondoexuq1wtf	ovarian endometrioid cystadenoma											DOID:7191|UMLS:C1518713|NCIT:C40075																		owl:Class
MONDO:0009718	biolink:NamedThing	myxedema	A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.	mondoexuq1wtf	myxedema					Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism.						MedDRA:10028663|SCTID:43153006|DOID:11634|OMIM:255900|MESH:D009230|UMLS:C0027145|ICD10:E03.9|NCIT:C34834|EFO:1001055																		owl:Class
MONDO:0003073	biolink:NamedThing	trilateral retinoblastoma	Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).	mondoexuq1wtf												NCIT:C7019|DOID:4647|UMLS:C2608045																		owl:Class
MONDO:0004295	biolink:NamedThing	asbestos-related lung carcinoma	A carcinoma arising in the lung due to exposure to asbestos.	mondoexuq1wtf	asbestos-related lung cancer|asbestos-related lung carcinoma											NCIT:C27925|UMLS:C1332337|DOID:7596																		owl:Class
MONDO:0032737	biolink:NamedThing	spastic paraplegia 80, autosomal dominant		mondoexuq1wtf	SPG80|SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT											OMIM:618418																		owl:Class
MONDO:0012939	biolink:NamedThing	Diamond-Blackfan anemia 8	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.	mondoexuq1wtf	DBA8|Diamond-Blackfan Anemia type 8|Diamond-Blackfan anemia caused by mutation in RPS7|RPS7 Diamond-Blackfan anemia|Diamond-Blackfan anemia 8											OMIM:612563|MESH:C567253|UMLS:C2675511																		owl:Class
MONDO:0041182	biolink:NamedThing	polymorphic light eruption		mondoexuq1wtf	polymorphous light eruption|polymorphic photodermatitis|polymorphic light eruption											SCTID:238525001|UMLS:C0031736																		owl:Class
MONDO:0008578	biolink:NamedThing	toe, rotated fifth		mondoexuq1wtf	toe, rotated fifth											OMIM:189150																		owl:Class
MONDO:0015562	biolink:NamedThing	distal monosomy 17q	Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	mondoexuq1wtf	17q monosomy|deletion 17q|distal 17q deletion|chromosome 17q deletion|telomeric deletion 17q|distal monosomy type 17q|17q deletion|partial monosomy 17q|monosomy 17q|monosomy 17qter											Orphanet:1597|GARD:0010972|ICD10:Q93.5|UMLS:C4275171|SCTID:715365000																		owl:Class
MONDO:0009177	biolink:NamedThing	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome		mondoexuq1wtf	epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders|epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa, late-onset localized junctional, with intellectual disability											MESH:C535492|ICD10:Q81.8|UMLS:C1856969|Orphanet:231556|OMIM:226440|GARD:0000299																		owl:Class
MONDO:0016775	biolink:NamedThing	lichen planus pemphigoides	Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.	mondoexuq1wtf	LP pemphigoides											Orphanet:254478|SCTID:238653005|ICD10:L43.8|UMLS:C0406369|GARD:0012677														https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides				owl:Class
MONDO:0023140	biolink:NamedThing	fenton Wilkinson Toselano syndrome		mondoexuq1wtf												GARD:0002287														https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome				owl:Class
MONDO:0018142	biolink:NamedThing	pyruvate carboxylase deficiency, severe neonatal type	Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.	mondoexuq1wtf	pyruvate carboxylase deficiency type B											Orphanet:353314|UMLS:CN204539|ICD10:E74.4																		owl:Class
MONDO:0030856	biolink:NamedThing	developmental and epileptic encephalopathy 89		mondoexuq1wtf	DEE89|developmental and epileptic encephalopathy 89											OMIM:619124																		owl:Class
MONDO:0017217	biolink:NamedThing	visceral calciphylaxis	Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	mondoexuq1wtf												Orphanet:280068|ICD10:E83.5																		owl:Class
MONDO:0003740	biolink:NamedThing	AIDS phobia	An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.	mondoexuq1wtf	AIDS phobia											NCIT:C35614|DOID:603|EFO:1001873|UMLS:C0853870																		owl:Class
MONDO:0019580	biolink:NamedThing	papular mucinosis of infancy	Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.	mondoexuq1wtf	cutaneous mucinosis of infancy											ICD10:L98.5|SCTID:717259002|Orphanet:90395|UMLS:C4273966																		owl:Class
MONDO:0012867	biolink:NamedThing	hereditary spastic paraplegia 38	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.	mondoexuq1wtf	spastic paraplegia 38, autosomal dominant|autosomal dominant spastic paraplegia type 38|SPG38|autosomal dominant spastic paraplegia 38|hereditary spastic paraplegia type 38											DOID:0110789|ICD10:G11.4|UMLS:C2676732|Orphanet:171617|MESH:C567349|OMIM:612335																		owl:Class
MONDO:0026720	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 12		mondoexuq1wtf	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12|MC1DN12											OMIM:301020																		owl:Class
MONDO:0007857	biolink:NamedThing	keratosis palmaris et plantaris-clinodactyly syndrome	Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.	mondoexuq1wtf	keratosis palmaris ET plantaris with clinodactyly|palmoplantar keratoderma-clinodactyly syndrome											Orphanet:86919|ICD10:Q82.8|OMIM:148520|MESH:C563646|UMLS:C1835663																		owl:Class
MONDO:0010141	biolink:NamedThing	tiglic acidemia		mondoexuq1wtf	disorder of isoleucine metabolism|tiglic acidemia											MESH:C536921|UMLS:C1848793|GARD:0009958|OMIM:275190|SCTID:444755001|ICD9:270.8														https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia				owl:Class
MONDO:0033362	biolink:NamedThing	developmental and epileptic encephalopathy, 53		mondoexuq1wtf	EIEE53|epileptic encephalopathy, early infantile, 53|DEE53											DOID:0080464|OMIM:617389|UMLS:C4479313																		owl:Class
MONDO:0023021	biolink:NamedThing	dwarfism lethal type advanced bone age		mondoexuq1wtf												GARD:0001986														https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age				owl:Class
MONDO:0022070	biolink:NamedThing	Cantu sanchez-corona hernandez syndrome	Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies	mondoexuq1wtf												GARD:0001083														https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome				owl:Class
MONDO:0017536	biolink:NamedThing	central polydactyly of fingers, bilateral		mondoexuq1wtf	mesoaxial polydactyly of fingers, bilateral|mirror hand, bilateral											ICD10:Q69.0|Orphanet:295173																		owl:Class
MONDO:0032684	biolink:NamedThing	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		mondoexuq1wtf	Imagei Syndrome|INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY|IMAGEI											OMIM:618336																		owl:Class
MONDO:0017931	biolink:NamedThing	hereditary inclusion body myopathy type 4	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	mondoexuq1wtf	HIBM4											Orphanet:324381|UMLS:CN227223|ICD10:G71.8																		owl:Class
MONDO:0004929	biolink:NamedThing	constant exophthalmos		mondoexuq1wtf												SCTID:89907009|DOID:9945|UMLS:C0155267|ICD9:376.31|COHD:434943|ICD10:H05.24																		owl:Class
MONDO:0016736	biolink:NamedThing	rosette-forming glioneuronal tumor of fourth ventricule	A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.	mondoexuq1wtf	dysembryoplastic neuroepithelial tumor of cerebellum|rosette-forming glioneuronal tumor|RGNT|DNT of the cerebellum											Orphanet:251975|UMLS:CN201984|UMLS:C4331262|NCIT:C129431																		owl:Class
MONDO:0012660	biolink:NamedThing	susceptibility to visceral leishmaniasis, 2		mondoexuq1wtf	kala-AZAR, susceptibility to, 2|leishmaniasis, visceral, susceptibility to, 2|KAZA2											OMIM:611381																		owl:Class
MONDO:0019368	biolink:NamedThing	florid cemento-osseous dysplasia	Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.	mondoexuq1wtf	focal cemento-osseous dysplasia|florid osseous dysplasia|Gigantiform cementoma											SCTID:715634002|ICD10:D16.5|MESH:C537063|UMLS:C0555197|GARD:0010173|Orphanet:83451|NCIT:C8381|ICD10:D16.4|ICDO:9275/0														https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia				owl:Class
MONDO:0004393	biolink:NamedThing	mixed astrocytoma-ependymoma	A tumor of mixed cell type with astrocytic components as well as ependymoma components.	mondoexuq1wtf	mixed astrocytoma-ependymoma											DOID:7907|UMLS:C0280791|NCIT:C8271																		owl:Class
MONDO:0011956	biolink:NamedThing	autism, susceptibility to, 3		mondoexuq1wtf	autism, susceptibility to, 3|AUTS3											OMIM:608049																		owl:Class
MONDO:0033372	biolink:NamedThing	developmental and epileptic encephalopathy, 63		mondoexuq1wtf	DEE63|EIEE63|epileptic encephalopathy, early infantile, 63											UMLS:CN244926|OMIM:617976|DOID:0080426																		owl:Class
MONDO:0032637	biolink:NamedThing	ciliary dyskinesia, primary, 39		mondoexuq1wtf	CILIARY DYSKINESIA, PRIMARY, 39|CILD39|Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus											OMIM:618254																		owl:Class
MONDO:0032565	biolink:NamedThing	ophthalmoplegia, external, with rib and vertebral anomalies		mondoexuq1wtf	EORVA|OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES											OMIM:618155																		owl:Class
MONDO:0023100	biolink:NamedThing	facial clefting corpus callosum agenesis		mondoexuq1wtf												GARD:0002220														https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis				owl:Class
MONDO:0042604	biolink:NamedThing	Sandhaus-Ben-Ami syndrome		mondoexuq1wtf	patella hypoplasia skeletal malformations|Sandhaus Ben-Ami syndrome											GARD:0000154|MESH:C537233|UMLS:C2931451																		owl:Class
MONDO:0006805	biolink:NamedThing	intermediate coronary syndrome	Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.	mondoexuq1wtf	angina at rest|unstable angina|impending infarction|anginal chest pain at rest|worsening angina|Preinfarction angina											UMLS:C0002965|ICD9:411.1|MESH:D000789|MedDRA:10022554|DOID:8805|ICD10:I20.0|EFO:1000985																		owl:Class
MONDO:0007584	biolink:NamedThing	exostoses-anetodermia-brachydactyly type E syndrome	Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.	mondoexuq1wtf	exostoses with anetodermia and brachydactyly, type E											ICD10:Q87.5|OMIM:133690|Orphanet:1962|UMLS:C1851428|MESH:C565034																		owl:Class
MONDO:0009985	biolink:NamedThing	retinohepatoendocrinologic syndrome	Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	mondoexuq1wtf	retinohepatoendocrinologic syndrome|rhe syndrome											OMIM:268040|MESH:C564839|UMLS:C1849399|SCTID:724000006|Orphanet:3087|GARD:0004685|ICD10:Q87.8														https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome				owl:Class
MONDO:0017110	biolink:NamedThing	isolated Dandy-Walker malformation with hydrocephalus		mondoexuq1wtf												Orphanet:269212|ICD10:Q03.1																		owl:Class
MONDO:0024359	biolink:NamedThing	central sleep apnea due to periodic breathing		mondoexuq1wtf	central sleep apnea due to periodic breathing											ICD9:327.27|SCTID:85721000119105|UMLS:C3662057|ICD9:786.09																		owl:Class
MONDO:0011535	biolink:NamedThing	split hand-foot malformation 4	Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.	mondoexuq1wtf	TP63 split hand-foot malformation|split-hand/foot malformation 4|split hand-foot malformation caused by mutation in TP63|split-hand/foot malformation type 4|split hand-foot malformation type 4|SHFM4											MESH:C565344|ICD10:Q71.6|DOID:0090023|OMIM:605289																		owl:Class
MONDO:0012782	biolink:NamedThing	celiac disease, susceptibility to, 13		mondoexuq1wtf	celiac disease, susceptibility to, 13|CELIAC13|gluten-sensitive enteropathy, susceptibility to, 13											OMIM:612011																		owl:Class
MONDO:0004396	biolink:NamedThing	cervical spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the cervical region of the spinal cord.	mondoexuq1wtf	meningioma of the cervical spinal canal and spinal cord|cervical intraspinal meningioma|meningioma of cervical spinal canal and spinal cord											DOID:7915|UMLS:C1332916|NCIT:C5296																		owl:Class
MONDO:0022605	biolink:NamedThing	brachymetapody anodontia hypotrichosis albinoidism		mondoexuq1wtf												GARD:0000992														https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism				owl:Class
MONDO:0040872	biolink:NamedThing	non-psychogenic polydipsia	A form of primary polydipsia not caused by underlying psychiatric symptoms.	mondoexuq1wtf	idiopathic polydipsia																													owl:Class
MONDO:0009586	biolink:NamedThing	mesangial sclerosis, diffuse renal, with ocular abnormalities		mondoexuq1wtf	mesangial sclerosis, diffuse renal, with ocular abnormalities											UMLS:C1855282|OMIM:249660|MESH:C565405																		owl:Class
MONDO:0032751	biolink:NamedThing	arthrogryposis, distal, type 2B3		mondoexuq1wtf	arthrogryposis, distal, type 2B3|distal arthrogryposis type 2B3 (Sheldon-Hall)|DA2B3											DOID:0111602|OMIM:618436																		owl:Class
MONDO:0020519	biolink:NamedThing	hand-Schuller-Christian disease	A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.	mondoexuq1wtf	hand-Schuller-Christian disease|multifocal Unisystem Langerhans cell histiocytosis|multifocal eosinophilic granuloma|hand-SChüller-Christian disease|chronic multifocal Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis											ICDO:9753/1|Orphanet:99873|ICD9:277.89|SCTID:39795003|NCIT:C6920|UMLS:CN207416|ICD10:C96.5																		owl:Class
MONDO:0017507	biolink:NamedThing	congenital absence/hypoplasia of thumb, bilateral	Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.	mondoexuq1wtf	thumb oligodactyly, bilateral|thumb hypodactyly, bilateral											ICD10:Q71.3|Orphanet:295112																		owl:Class
MONDO:0004859	biolink:NamedThing	hydrops of gallbladder		mondoexuq1wtf												DOID:9717|COHD:195307|ICD10:K82.1|ICD9:575.3|UMLS:C0152445|SCTID:47312008																		owl:Class
MONDO:0032630	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 26		mondoexuq1wtf	MC1DN26|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26											OMIM:618247																		owl:Class
MONDO:0014836	biolink:NamedThing	Charcot-Marie-Tooth disease axonal type 2CC	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.	mondoexuq1wtf	Charcot-Marie-Tooth neuropathy, type 2Cc|Charcot-Marie-Tooth disease, axonal, type 2cc|Charcot-Marie-Tooth neuropathy type 2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth disease, axonal, type 2CC|CMT2CC											DOID:0110180|UMLS:C4310790|OMIM:616924																		owl:Class
MONDO:0008125	biolink:NamedThing	nonsyndromic congenital nail disorder 5		mondoexuq1wtf	onycholysis, partial, with scleronychia|nonsyndromic congenital nail disorder type 5|NDNC5|onycholysis, hereditary distal|nail disorder, nonsyndromic congenital, 5											OMIM:164800|UMLS:C1833909|MESH:C563503|DOID:0080083																		owl:Class
MONDO:0003138	biolink:NamedThing	subacute glomerulonephritis	A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.	mondoexuq1wtf												DOID:4782|SCTID:123609007|NCIT:C35801|UMLS:C1263744																		owl:Class
MONDO:0016530	biolink:NamedThing	laryngocele	A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.	mondoexuq1wtf												MedDRA:10023885|NCIT:C97062|GARD:0003191|ICD10:Q31.3|UMLS:C0265761|MESH:D059608|SCTID:51523009|ICD9:748.3|Orphanet:2372														https://rarediseases.info.nih.gov/diseases/3191/laryngocele				owl:Class
MONDO:0006641	biolink:NamedThing	afferent loop syndrome	A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.	mondoexuq1wtf												ICD9:537.89|UMLS:C0001727|EFO:1000799|DOID:8438|MESH:D000343|SCTID:20813000|MedDRA:10056245																		owl:Class
MONDO:0019795	biolink:NamedThing	acalvaria	Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.	mondoexuq1wtf	Acrania|primary acalvaria											MESH:C535570|ICD10:Q00.0|Orphanet:945|UMLS:C2930936|GARD:0000361|SCTID:203923004														https://rarediseases.info.nih.gov/diseases/361/acalvaria				owl:Class
MONDO:0009296	biolink:NamedThing	glycoprotein storage disease		mondoexuq1wtf	glycoprotein storage disease|glycoprotein storage disorder											UMLS:C0268220|MESH:C565538|UMLS:C1856275|SCTID:7810004|OMIM:232900																		owl:Class
MONDO:0023157	biolink:NamedThing	fibular hypoplasia scapulo pelvic dysplasia absent		mondoexuq1wtf												GARD:0002333														https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent				owl:Class
MONDO:0030997	biolink:NamedThing	mitochondrial complex 1 deficiency, nuclear type 37		mondoexuq1wtf	MC1DN37|mitochondrial complex 1 deficiency, nuclear type 37											OMIM:619272																		owl:Class
MONDO:0015728	biolink:NamedThing	distal trisomy 15q		mondoexuq1wtf	distal duplication 15q|telomeric duplication 15q|trisomy 15qter|distal trisomy type 15q											MESH:C538036|ICD10:Q92.3|Orphanet:1707																		owl:Class
MONDO:0019367	biolink:NamedThing	regional odontodysplasia	Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.	mondoexuq1wtf	ghost teeth											SCTID:66063001|MESH:D018126|Orphanet:83450|ICD10:K00.4																		owl:Class
MONDO:0032677	biolink:NamedThing	lissencephaly 9 with complex brainstem malformation		mondoexuq1wtf	LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION|LIS9											OMIM:618325|Orphanet:572013																		owl:Class
MONDO:0003858	biolink:NamedThing	anterior optic tract meningioma	A meningioma that affects the anterior visual pathway.	mondoexuq1wtf	anterior visual pathway meningioma											DOID:6334|UMLS:C1332308|NCIT:C7538																		owl:Class
MONDO:0008459	biolink:NamedThing	spinocerebellar atrophy with pupillary paralysis		mondoexuq1wtf	spinocerebellar atrophy with pupillary paralysis											MESH:C566668|UMLS:C1866746|OMIM:183100																		owl:Class
MONDO:0004313	biolink:NamedThing	gasserian ganglion meningioma	A meningioma that affects the trigeminal ganglion.	mondoexuq1wtf	meningioma of Gasserian ganglion|gasserian ganglion meningioma (disease)|meningioma (disease) of gasserian ganglion|Gasserian meningioma|meningioma of the Gasserian ganglion											UMLS:C1333760|DOID:7635|NCIT:C6779																		owl:Class
MONDO:0011210	biolink:NamedThing	mitochondrial intermembrane space protein Tim12, yeast, homolog of		mondoexuq1wtf	mitochondrial intermembrane space protein Tim12, yeast, homolog of											OMIM:602252																		owl:Class
MONDO:0060621	biolink:NamedThing	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy		mondoexuq1wtf	NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy											OMIM:617802|UMLS:C4540493																		owl:Class
MONDO:0009085	biolink:NamedThing	deafness-vitiligo-achalasia syndrome	Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	mondoexuq1wtf	deafness vitiligo achalasia|deafness, congenital, with vitiligo and achalasia|congenital deafness with vitiligo and achalasia											UMLS:C1857339|GARD:0001705|ICD10:Q87.8|MESH:C565642|Orphanet:3239|OMIM:221350														https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia				owl:Class
MONDO:0012673	biolink:NamedThing	colorectal cancer, susceptibility to, 2		mondoexuq1wtf	colorectal cancer, susceptibility to, 2|colorectal cancer, susceptibility to, on chromosome 8Q24|CRCS2											OMIM:611469																		owl:Class
MONDO:0007847	biolink:NamedThing	keloid formation		mondoexuq1wtf	keloid formation											OMIM:148100																		owl:Class
MONDO:0004759	biolink:NamedThing	bestiality		mondoexuq1wtf	zoophilia											SCTID:81463002|COHD:438999|ICD9:302.1|DOID:9336																		owl:Class
MONDO:0032762	biolink:NamedThing	deafness, autosomal recessive 115		mondoexuq1wtf	DEAFNESS, AUTOSOMAL RECESSIVE 115|DFNB115											DOID:0111643|OMIM:618457																		owl:Class
MONDO:0016081	biolink:NamedThing	coronary arterial fistulas	Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.	mondoexuq1wtf	coronary arterial malformations|Coronaro-cardiac fistula											Orphanet:2041|GARD:0001533|MedDRA:10069441|ICD10:Q24.5																		owl:Class
MONDO:0018221	biolink:NamedThing	immune hydrops fetalis	Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.	mondoexuq1wtf	immune fetal edema|IHF|immune HF|immune fetal hydrops											NCIT:C111904|UMLS:C0455990|Orphanet:364013|ICD10:P56.0|ICD9:773.3|SCTID:15539009																		owl:Class
MONDO:0017984	biolink:NamedThing	familial lambdoid synostosis	Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	mondoexuq1wtf	craniosynostosis, lambdoidal|lambdoid synostosis											ICD10:Q75.0|SCTID:766884000|UMLS:CN204142|Orphanet:3267|GARD:0003168																		owl:Class
MONDO:0009647	biolink:NamedThing	Morquio syndrome C		mondoexuq1wtf	Morquio syndrome, Nonkeratosulfate-Excreting type|Morquio syndrome C|Morquio syndrome type C											MESH:C536247|OMIM:252300																		owl:Class
MONDO:0004219	biolink:NamedThing	polyvesicular vitelline pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.	mondoexuq1wtf	testicular yolk Sac tumor, polyvesicular vitelline pattern											NCIT:C39930|DOID:7435|UMLS:C1515311																		owl:Class
MONDO:0019845	biolink:NamedThing	iatrogenic or traumatic pituitary deficiency		mondoexuq1wtf												ICD10:E23.1|Orphanet:95619																		owl:Class
MONDO:0016652	biolink:NamedThing	2q31.1 microdeletion syndrome	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	mondoexuq1wtf	monosomy 2q31.1|Del(2)(q31.1)											UMLS:CN201880|SCTID:716387004|ICD10:Q93.5|UMLS:C4274647|Orphanet:251014																		owl:Class
MONDO:0002768	biolink:NamedThing	true hermaphroditism	A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.	mondoexuq1wtf	true hermaphroditism|ovotestis|hermaphroditism											UMLS:C0019269|NCIT:C85207|SCTID:237821001|DOID:3763|PATO:0001340																		owl:Class
MONDO:0016486	biolink:NamedThing	beta-thalassemia major	Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.	mondoexuq1wtf	Beta thalassemia Major|Cooley anemia|Mediterranean anemia|Cooley's Anemia											SCTID:26682008|NCIT:C129699|ICD9:282.49|Orphanet:231214|ICD10:D56.1																		owl:Class
OBO:UMLS_C1709838	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001319	biolink:NamedThing	bladder lateral wall cancer		mondoexuq1wtf	malignant neoplasm of lateral wall of urinary bladder											ICD9:188.2|SCTID:188241004|ICD10:C67.2|COHD:73153|UMLS:C0496828|DOID:11593								Lateral Wall of bladder										owl:Class
MONDO:0020462	biolink:NamedThing	tarsal kink syndrome	Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.	mondoexuq1wtf												Orphanet:99170|UMLS:CN207325																		owl:Class
MONDO:0007170	biolink:NamedThing	atresia of external auditory canal and conductive deafness		mondoexuq1wtf	atresia of external auditory canal and conductive deafness											OMIM:108760|UMLS:C3276095																		owl:Class
MONDO:0017156	biolink:NamedThing	pulmonary arterial hypertension associated with chronic hemolytic anemia	Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.	mondoexuq1wtf	PAH associated with chronic hemolytic anemia											UMLS:C3698315|Orphanet:275828|EFO:0009195|SCTID:697908003|ICD9:416.8|ICD10:I27.2																		owl:Class
MONDO:0043294	biolink:NamedThing	linear scleroderma	A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.	mondoexuq1wtf	linear scleroderma|en coup de sabre|linear Scleroderma|linear morphea|Scleroderma, linear											SCTID:22784002|NCIT:C116780|GARD:0009513																		owl:Class
MONDO:0032782	biolink:NamedThing	immunodeficiency 63 with lymphoproliferation and autoimmunity		mondoexuq1wtf	Interleukin 2 Receptor, Beta, Deficiency of|IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|Cd122 Deficiency|Il2Rb Deficiency|IMD63											OMIM:618495																		owl:Class
MONDO:0009198	biolink:NamedThing	congenital lethal erythroderma	Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	mondoexuq1wtf	erythroderma lethal congenital|congenital exfoliative erythroderma resistant to treatment|lethal congenital erythroderma|erythroderma, lethal congenital											ICD10:Q82.8|Orphanet:1954|MESH:C535513|GARD:0002192|SCTID:722391005|OMIM:227090														https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital				owl:Class
MONDO:0009373	biolink:NamedThing	seizures-intellectual disability due to hydroxylysinuria syndrome	Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.	mondoexuq1wtf	hydroxylysinuria											MESH:C565502|ICD10:E72.3|UMLS:C1855986|Orphanet:79156|OMIM:236900																		owl:Class
MONDO:0010861	biolink:NamedThing	type 1 diabetes mellitus 3	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.	mondoexuq1wtf	IDDM3|diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3											DOID:0110742|OMIM:600318|MESH:C563960|UMLS:C1838262|ICD10:E10																		owl:Class
MONDO:0004321	biolink:NamedThing	endometrial mixed adenocarcinoma	An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.	mondoexuq1wtf	endometrial mixed adenocarcinoma											UMLS:C1516856|DOID:7664|NCIT:C40153																		owl:Class
MONDO:0006701	biolink:NamedThing	chromophobe adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.	mondoexuq1wtf	chromophobe adenoma of the pituitary gland|pituitary chromophobe adenoma|pituitary gland chromophobe adenoma|chromophobe adenoma of pituitary gland											DOID:3828|ICDO:8270/0|NCIT:C2857|EFO:1000867|MESH:D000238|UMLS:C0001432																		owl:Class
MONDO:0003056	biolink:NamedThing	lymphoplasmacyte-rich meningioma	A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.	mondoexuq1wtf	lymphoplasmocyte-rich meningioma|lymphoplasmacyte-rich meningioma|lymphoplasmocyte-rich meningioma (morphologic abnormality)											DOID:4591|NCIT:C4720|UMLS:C0431119|EFO:1000342																		owl:Class
MONDO:0004771	biolink:NamedThing	Fuchs' heterochromic uveitis	A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.	mondoexuq1wtf	Fuchs' heterochromic cyclitis|Fuch's heterochromic iridocyclitis|Fuchs uveitis syndrome											DOID:9375|ICD9:364.21|ICD10:H20.81|UMLS:C0016782|SCTID:11226001																		owl:Class
MONDO:0022981	biolink:NamedThing	die Smulders droog van dijk syndrome		mondoexuq1wtf												GARD:0001857														https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome				owl:Class
MONDO:0006797	biolink:NamedThing	hypertensive retinopathy	Retinopathy due to hypertension.	mondoexuq1wtf												SCTID:6962006|NCIT:C3514|DOID:11561|UMLS:C0152132|MESH:D058437|EFO:1000977|ICD9:362.11|COHD:376965|MedDRA:10020839|ICD10:H35.03																		owl:Class
MONDO:0007643	biolink:NamedThing	gamma-A-globulin, defect in assembly of		mondoexuq1wtf	Immunoglobulin A, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF|IgA, defect in Assembly of											OMIM:137050|UMLS:C1850934|MESH:C564991																		owl:Class
MONDO:0013918	biolink:NamedThing	distal tetrasomy 15q		mondoexuq1wtf	tetrasomy 15(q25-qter)|distal tetrasomy type 15q|tetrasomy type 15Q26|tetrasomy 15q26|levy-Shanske syndrome											ICD10:Q99.8|UMLS:CN203770|UMLS:C3553858|OMIM:614846|Orphanet:314588																		owl:Class
MONDO:0018442	biolink:NamedThing	acitretin/etretinate embryopathy	Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	mondoexuq1wtf	fetal acitretin syndrome|Acitretine embryofetopathy|acitretin embryofetopathy|acitretin embryopathy|retinoid embryopathy|fetal acitretin/etretinate syndrome											Orphanet:40366|SCTID:725287006|GARD:0000468|UMLS:CN205049|ICD10:Q86.8|MESH:C538169														https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy				owl:Class
MONDO:0009138	biolink:NamedThing	dysosteosclerosis	Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.	mondoexuq1wtf	dysosteosclerosis											MESH:C562973|ICD10:Q78.8|Orphanet:1782|ICD9:756.9|OMIM:224300|SCTID:254123002|UMLS:C0432262|GARD:0002012														https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis				owl:Class
MONDO:0022645	biolink:NamedThing	cardioencephalomyopathy		mondoexuq1wtf												GARD:0010673														https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy				owl:Class
MONDO:0012122	biolink:NamedThing	moyamoya disease 3		mondoexuq1wtf	Moyamoya disease 3|MYMY3											MESH:C536993|UMLS:C1837418|OMIM:608796																		owl:Class
MONDO:0024525	biolink:NamedThing	Fanconi renotubular syndrome 1		mondoexuq1wtf	renal Fanconi syndrome|adult Fanconi syndrome|FRTS1|Fanconi renotubular syndrome|Fanconi syndrome without cystinosis|Fanconi renotubular syndrome 1|Luder-Sheldon syndrome											OMIM:134600																		owl:Class
MONDO:0010040	biolink:NamedThing	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability		mondoexuq1wtf	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation											OMIM:270500|UMLS:C3151619																		owl:Class
MONDO:0016522	biolink:NamedThing	Kousseff syndrome	Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	mondoexuq1wtf	sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele conotruncal heart defects											ICD10:Q87.8|MESH:C537223|Orphanet:2351|UMLS:C2931444|SCTID:726083008|GARD:0004752																		owl:Class
MONDO:0024547	biolink:NamedThing	pancreatic agenesis 1	Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.	mondoexuq1wtf	pancreatic agenesis 1|Pagen|PAGEN1|pancreatic hypoplasia, congenital|pancreatic agenesis caused by mutation in PDX1|PDX1 pancreatic agenesis											OMIM:260370|UMLS:C3891828																		owl:Class
MONDO:0017297	biolink:NamedThing	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids		mondoexuq1wtf	CLIPPERS											UMLS:C3854437|GARD:0010779|Orphanet:284448																		owl:Class
MONDO:0006855	biolink:NamedThing	mesenteric vascular occlusion	Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)	mondoexuq1wtf												EFO:1001043|MESH:D008641|DOID:13252|UMLS:C0025472|MedDRA:10074583																		owl:Class
MONDO:0014084	biolink:NamedThing	ataxia with oculomotor apraxia type 3		mondoexuq1wtf	ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia 3|ataxia-oculomotor apraxia type 3|AOA3											DOID:0060557|UMLS:C3554690|GARD:0013112|OMIM:615217																		owl:Class
CL:0000562	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0022465	biolink:NamedThing	anotia facial palsy cardiac defect	A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.	mondoexuq1wtf												GARD:0000725														https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect				owl:Class
MONDO:0023002	biolink:NamedThing	double discordia		mondoexuq1wtf	atrio-ventricular and ventriculo-arterial double Discordia|corrected transposition											GARD:0001905														https://rarediseases.info.nih.gov/diseases/1905/double-discordia				owl:Class
MONDO:0011677	biolink:NamedThing	Megarbane syndrome		mondoexuq1wtf	Megarbane syndrome|short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation											OMIM:606527|UMLS:C1847871|GARD:0009979|MESH:C536145														https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome				owl:Class
MONDO:0029138	biolink:NamedThing	developmental and epileptic encephalopathy, 67		mondoexuq1wtf	EIEE67|epileptic encephalopathy, early infantile, 67|DEE67											OMIM:618141																		owl:Class
MONDO:0054724	biolink:NamedThing	spermatogenic failure 20		mondoexuq1wtf	SPGF20|spermatogenic failure 20											OMIM:617593|DOID:0070166																		owl:Class
MONDO:0001392	biolink:NamedThing	monocular exotropia		mondoexuq1wtf												COHD:375274|UMLS:C0152206|ICD10:H50.11|SCTID:5725006|ICD9:378.11|DOID:11853																		owl:Class
MONDO:0010819	biolink:NamedThing	Stargardt disease 3		mondoexuq1wtf	Stargardt-like macular dystrophy, autosomal dominant|Stargardt disease 3|macular dystrophy with flecks, type 3|Stargardt disease type 3|STGD3											UMLS:C1838644|OMIM:600110|MESH:C535805																		owl:Class
MONDO:0004578	biolink:NamedThing	flat retinoschisis		mondoexuq1wtf												SCTID:83405000|DOID:8464|ICD9:361.11|UMLS:C0154817																		owl:Class
MONDO:0060690	biolink:NamedThing	phenytoin toxicity		mondoexuq1wtf	phenytoin toxicity|fetal hydantoin syndrome|arene oxide detoxification defect|diphenylhydantoin, defect in hydroxylation of											OMIM:617955																		owl:Class
MONDO:0022333	biolink:NamedThing	5-nucleotidase syndrome		mondoexuq1wtf	5'-Nucleotidase syndrome|5'NT syndrome											UMLS:C2930876|GARD:0008242|MESH:C535321														https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome				owl:Class
MONDO:0009592	biolink:NamedThing	metaphyseal acroscyphodysplasia	Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.	mondoexuq1wtf	cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|wedge-shaped epiphyses of the knees with mental retardation and short stature|metaphyseal acroscyphodysplasia|wedge-shaped epiphyses of knees|wedge-Shaped epiphyses of knees|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|Bellini syndrome|wedge-shaped epiphyses of the knees with intellectual disability and short stature|Bellini Chiumello Rimoldi syndrome											MESH:C537350|Orphanet:1240|GARD:0003519|OMIM:250215|UMLS:C1855243|ICD10:Q78.5														https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia				owl:Class
MONDO:0011478	biolink:NamedThing	growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia		mondoexuq1wtf	growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|Roca syndrome|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia											UMLS:C1858182|MESH:C565755|OMIM:604690																		owl:Class
MONDO:0023121	biolink:NamedThing	familial partial paralysis		mondoexuq1wtf	partial paralysis, familial											GARD:0008607|MEDGEN:447610|UMLS:CN035928|GTR:AN0100894														https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis				owl:Class
MONDO:0010740	biolink:NamedThing	taurodontism, microdontia, and dens invaginatus		mondoexuq1wtf	taurodontism, microdontia, and dens invaginatus											UMLS:C1839235|OMIM:313490|MESH:C536947|GARD:0010068														https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus				owl:Class
MONDO:0054817	biolink:NamedThing	leukodystrophy, hypomyelinating, 17		mondoexuq1wtf	HLD17|leukodystrophy, hypomyelinating, 17											UMLS:CN248514|OMIM:618006																		owl:Class
MONDO:0010553	biolink:NamedThing	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined		mondoexuq1wtf	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined											OMIM:302900|MESH:C564446|UMLS:C1844863																		owl:Class
MONDO:0009587	biolink:NamedThing	mesoaxial hexadactyly and cardiac malformation		mondoexuq1wtf	Mexican Cardiomelic dysplasia|mesoaxial hexadactyly and cardiac malformation											OMIM:249670|MESH:C563087|UMLS:C0796057																		owl:Class
MONDO:0022575	biolink:NamedThing	biliary hypoplasia	A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts.	mondoexuq1wtf						Editor note: consider making this a finding						GARD:0008383														https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia				owl:Class
MONDO:0003468	biolink:NamedThing	biphasic synovial sarcoma	A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.	mondoexuq1wtf	synovial sarcoma, biphasic|biphasic sarcoma of synovium|biphasic sarcoma of the synovium|synovial sarcoma, biphasic (morphologic abnormality)											UMLS:C0334507|DOID:5492|NCIT:C4279|ICDO:9043/3																		owl:Class
MONDO:0022776	biolink:NamedThing	cleft lip and/or palate with mucous cysts of lower		mondoexuq1wtf												GARD:0001372														https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower				owl:Class
MONDO:0006778	biolink:NamedThing	halo nevus	A benign melanocytic nevus with a halo appearance.	mondoexuq1wtf	halo nevi|leukoderma acquisitum Centrifugum of Sutton											NCIT:C7602|ICD9:709.09|SCTID:398028009|MESH:D055882|ICDO:8723/0|EFO:1000958|UMLS:C0474824|MedDRA:10062794|GARD:0009421														https://rarediseases.info.nih.gov/diseases/9421/halo-nevi				owl:Class
MONDO:0002042	biolink:NamedThing	mechanical ectropion	An ectropion with a mechanical etiology.	mondoexuq1wtf												COHD:379813|UMLS:C0155194|DOID:1569|ICD10:H02.121-129|ICD9:374.12|SCTID:45020000																		owl:Class
MONDO:0007480	biolink:NamedThing	dwarfism with stiff joints and ocular abnormalities		mondoexuq1wtf	Moore-Federman syndrome|dwarfism with stiff joints and ocular abnormalities											OMIM:127200|Orphanet:2569|SCTID:72913007|MESH:C535724|ICD9:759.89																		owl:Class
MONDO:0010377	biolink:NamedThing	myopia 13, X-linked		mondoexuq1wtf	MYP13|myopia 13, X-linked											MESH:C564473|UMLS:C1845096|OMIM:300613																		owl:Class
MONDO:0010971	biolink:NamedThing	infundibulopelvic stenosis-multicystic kidney syndrome	Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.	mondoexuq1wtf	infundibulopelvic dysgenesis											MESH:C535528|SCTID:725905005|UMLS:C1832949|GARD:0003005|Orphanet:1849|OMIM:600989																		owl:Class
MONDO:0007910	biolink:NamedThing	lipoprotein types--Lt system		mondoexuq1wtf	lipoprotein types--Lt system											UMLS:C1835359|OMIM:152300																		owl:Class
MONDO:0100402	biolink:NamedThing	acute myeloid leukemia, del(13q14-q21)	Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)	mondoexuq1wtf	AML, del(13)(q14-q21)|AML, del(13q)(13q14-21)|AML, del(13)(q14q21)|AML, del(13q14-q21)|AML, 13q14-q21 Deletion																													owl:Class
MONDO:0100332	biolink:NamedThing	disease has primary infectious agent		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432																						owl:ObjectProperty
RO:0014001	biolink:NamedThing	disease has infectious agent		mondoexuq1wtf												RO:0014001|RO:0014001															disease_has_infectious_agent|disease_has_infectious_agent			owl:ObjectProperty
MONDO:0100333	biolink:NamedThing	disease caused by reactivation of latent infectious agent		mondoexuq1wtf								http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432																						owl:ObjectProperty
OBO:mondo#disease_has_major_feature	biolink:NamedThing	disease has major feature		mondoexuq1wtf																														owl:ObjectProperty
RO:0004029	biolink:NamedThing	disease has feature		mondoexuq1wtf												RO:0004029|RO:0004029															disease_has_feature|disease_has_feature			owl:ObjectProperty
RO:0004021	biolink:NamedThing	disease caused by disruption of		mondoexuq1wtf						Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in|Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in						RO:0004021|RO:0004021															disease_has_basis_in_disruption_of|disease_has_basis_in_disruption_of			owl:ObjectProperty
RO:0004024	biolink:NamedThing	disease disrupts		mondoexuq1wtf												RO:0004024|RO:0004024															disease_disrupts|disease_disrupts			owl:ObjectProperty
NCIT:C128047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022350	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#gard_rare	biolink:NamedThing			mondoexuq1wtf						GARD rare disease subset																								owl:AnnotationProperty
UMLS:C0543533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496867	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537271	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193468002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54839009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564691	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_disease	biolink:NamedThing			mondoexuq1wtf						disease																								owl:AnnotationProperty
OBO:mondo#ordo_group_of_disorders	biolink:NamedThing			mondoexuq1wtf						group of disorders																								owl:AnnotationProperty
DOID:0110992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18260003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616901	biolink:NamedThing			mondoexuq1wtf																														
DOID:4879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931261	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110790	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_morphological_anomaly	biolink:NamedThing			mondoexuq1wtf						morphological anomaly																								owl:AnnotationProperty
SNOMEDCT:156779007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699866005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675436	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019045	biolink:NamedThing	obsolete rare sleep disorder	A rare form of sleep disorder.	mondoexuq1wtf	rare sleep wake disorder|rare sleep-wake disorder|rare sleep disorder			MONDO:0003406			MESH:D012893|MedDRA:10040984|UMLS:C0851578			True		Orphanet:68354														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
OBO:mondo#disease_grouping	biolink:NamedThing			mondoexuq1wtf						disease_grouping																								owl:AnnotationProperty
http://identifiers.org/omim/607161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847719	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398764	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275765006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5265	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_malformation_syndrome	biolink:NamedThing			mondoexuq1wtf						malformation syndrome																								owl:AnnotationProperty
ORPHA:315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32139003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004632	biolink:NamedThing	obsolete Hodgkin's granuloma	An obsolete term referring to Hodgkin lymphoma.	mondoexuq1wtf	Hodgkin's granuloma|Hodgkin granuloma|Hodgkin's granuloma of unspecified site|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites			MONDO:0004952						True		ICD10:C81.4|ICD10:C81|NCIT:C6914|SCTID:118602004|ICD10:C81.0|ICD10:C81.9|ICD9:201.2|COHD:4041797|ICD9:201.4|ICD10:C81.3|ICDO:9661/3|ICD9:201.7|ICD9:201.9|ICD10:C81.2|ICD9:201.6|DOID:8651|ICD9:201.0|ICD9:201|ICD9:201.1																		owl:Class
SNOMEDCT:188583005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6427	biolink:NamedThing			mondoexuq1wtf																														
DOID:13382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604416	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239124001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58557008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387705004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130994	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5185	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018411	biolink:NamedThing	obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	mondoexuq1wtf	rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|rare female infertility due to gonadotropic axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder	MONDO:outOfScope					ICD10:N97.0			True		Orphanet:400011|UMLS:CN227354														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:400011	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204882004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157121009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86341008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93569	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201408008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63198006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48638002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1744558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:29	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015960	biolink:NamedThing	obsolete rare genetic developmental defect during embryogenesis		mondoexuq1wtf				MONDO:0021147						True		Orphanet:183530|UMLS:CN226804														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226804	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007347	biolink:NamedThing	obsolete Coxsackievirus B3 susceptibility		mondoexuq1wtf	CXB3S|Coxsackievirus B3 susceptibility|Cb3S					obsoleted as it represents a susceptibility not a disease				True		UMLS:C1861511|OMIM:120050																		owl:Class
UMLS:C1861511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0544862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189548003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN870853	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015913	biolink:NamedThing	obsolete rare thrombotic disease of hematologic origin		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200513|Orphanet:182054														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:182054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610071	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617360	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720637005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375327	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237886009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62677000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246781001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720941007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057365	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565140	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333630	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776887	biolink:NamedThing			mondoexuq1wtf																														
DOID:3410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195410000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26899006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53458004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66937008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715644000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47004009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97089	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535503	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201435004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276971	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154818001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854366	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:730	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015890	biolink:NamedThing	obsolete rare disorder with congenital hypogonadotropic hypogonadism		mondoexuq1wtf	rare disorder with hypogonadotropic hypogonadism|rare disorder with secondary hypogonadism	MONDO:outOfScope					UMLS:C0271623			True		Orphanet:181387														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0346948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724642009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393702	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102878001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339278	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193801004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722066001	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_clinical_subtype	biolink:NamedThing			mondoexuq1wtf						clinical subtype																								owl:AnnotationProperty
ORPHA:466775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205237003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267563002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92068002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548034	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2723	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202394001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84501	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846044	biolink:NamedThing			mondoexuq1wtf																														
DOID:5100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722205008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116929	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336878	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:106	biolink:NamedThing			mondoexuq1wtf																														
DOID:4782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263410	biolink:NamedThing			mondoexuq1wtf																														
DOID:2216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008372	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020255	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239960007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702343002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:437552	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16189002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187000000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3412	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611284	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_histopathological_subtype	biolink:NamedThing			mondoexuq1wtf						histopathological subtype																								owl:AnnotationProperty
UMLS:C0277110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33130007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22558005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609408	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111058	biolink:NamedThing			mondoexuq1wtf																														
DOID:12897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95457	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015118	biolink:NamedThing	obsolete rare pulmonary disease		mondoexuq1wtf							MONDO:0005087|MONDO:0005275			True		Orphanet:101944														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0024115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417183007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860490	biolink:NamedThing			mondoexuq1wtf																														
DOID:10071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204290008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193692003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127029006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310727	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707436001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41841004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612731	biolink:NamedThing			mondoexuq1wtf																														
DOID:7152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614520	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275484005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128272009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155667007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94138009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535610	biolink:NamedThing			mondoexuq1wtf																														
DOID:3332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67569000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193991008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037998	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044239	biolink:NamedThing	obsolete median-ulnar nerve communications		mondoexuq1wtf	Martin-Gruber Median-ulnar anastomosis|median-ulnar nerve communications					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:155150																		owl:Class
UMLS:C1835086	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2168304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19885005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192839001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254946004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101016	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254889004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114900	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004404	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191348003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90318	biolink:NamedThing			mondoexuq1wtf																														
DOID:1088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618031	biolink:NamedThing			mondoexuq1wtf																														
DOID:9649	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1569	biolink:NamedThing			mondoexuq1wtf																														
DOID:4905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61598006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015906	biolink:NamedThing	obsolete rare disorder with hypergonadotropic hypogonadism		mondoexuq1wtf	rare disorder with primary hypogonadism			MONDO:0000001						True		UMLS:CN226785|Orphanet:181441														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
OBO:mondo#obsoletion_candidate	biolink:NamedThing			mondoexuq1wtf						obsoletion candidate																								owl:AnnotationProperty
ORPHA:1037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253002004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414819007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015893	biolink:NamedThing	obsolete rare hypothyroidism	Any of the forms of hypothyroidism that have a rare incidence.	mondoexuq1wtf	rare hypothyroidism			MONDO:0005420			UMLS:C0020676			True		Orphanet:181396														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:181396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085277	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723308003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721862000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1552	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34747	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276379008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197321007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046152	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#predisposition	biolink:NamedThing			mondoexuq1wtf						Diseases that are pre-dispositions to other diseases																								owl:AnnotationProperty
SNOMEDCT:458422009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21011008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156725003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266142004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2227	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537966	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276267	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18834007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55510008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56625005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8969	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64586002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151222	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347272	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45913009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604356	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016627	biolink:NamedThing	obsolete rare hemorrhagic disorder		mondoexuq1wtf	rare bleeding disorder|rare coagulopathy			MONDO:0002243			UMLS:C0019087|UMLS:C0005779			True		UMLS:CN226978|Orphanet:248308														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:248308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028754	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239088003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C134954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2460001000004103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424460009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266541001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266502003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91956006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020651	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231690	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535269	biolink:NamedThing			mondoexuq1wtf																														
DOID:4743	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057235	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277623009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1628319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192405006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111086	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79215	biolink:NamedThing			mondoexuq1wtf																														
DOID:3606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202061005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93601	biolink:NamedThing			mondoexuq1wtf																														
DOID:2739	biolink:NamedThing			mondoexuq1wtf																														
DOID:12388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725167001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432288	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92293007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715532007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35322000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000834	biolink:NamedThing	obsolete bone deterioration disease	A bone structure disease that results in change or damage of structure located in bone.	mondoexuq1wtf						This term is out of scope for Mondo.				True		DOID:0080007														https://github.com/monarch-initiative/mondo/issues/503				owl:Class
MESH:C535588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427972000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617258	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720957007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931442	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27062	biolink:NamedThing			mondoexuq1wtf																														
DOID:10211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155010002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20010003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3653	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564844	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254864	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:280483007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2063478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93867004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23849003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605818	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018409	biolink:NamedThing	obsolete rare genetic disorder with obstructive azoospermia		mondoexuq1wtf	rare genetic disorder due to impaired sperm transport	MONDO:outOfScope				Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens				True		Orphanet:400003|UMLS:CN227352														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190825006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854917	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006023	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C2751290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749982	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267626000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193116	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537761	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119676	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448864006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489771	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715371006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95202004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1473	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196481002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39929009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336046	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7096005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155520	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044222	biolink:NamedThing	obsolete blood group, p1pk system		mondoexuq1wtf	P(1) phenotype|P(2) phenotype|P1(K) phenotype|blood group, P1PK system|Nor Polyagglutination syndrome|P2(K) phenotype|P phenotype					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:111400																		owl:Class
UMLS:C1292197	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230151007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267744000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2777	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268087008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84706	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726621009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78494001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267702006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710103	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110057	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79336007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041582	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0405580	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155256000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016491	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4834000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30496006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59178007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230594005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613981	biolink:NamedThing			mondoexuq1wtf																														
DOID:4292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35142	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198131005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750027	biolink:NamedThing			mondoexuq1wtf																														
DOID:8013	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019300	biolink:NamedThing	obsolete rare skin tumor or hamartoma		mondoexuq1wtf										True		UMLS:CN205934|Orphanet:79386																		owl:Class
MESH:C535492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151402	biolink:NamedThing			mondoexuq1wtf																														
DOID:3707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342278	biolink:NamedThing			mondoexuq1wtf																														
DOID:2236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN800195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090054	biolink:NamedThing			mondoexuq1wtf																														
DOID:12753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270882001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60573004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612644	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1420425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154408001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126966009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205119005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14189004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042940	biolink:NamedThing			mondoexuq1wtf																														
DOID:4423	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61750000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500135	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854180	biolink:NamedThing			mondoexuq1wtf																														
DOID:5124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39381003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042904	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111030006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162678	biolink:NamedThing			mondoexuq1wtf																														
DOID:5465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363516004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343312	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3898006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616053	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060243	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393568003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850808	biolink:NamedThing			mondoexuq1wtf																														
DOID:3205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25121006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015847	biolink:NamedThing	obsolete rare vaginal malformation		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:180151|UMLS:CN226752														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C537457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153390	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41572006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563852	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124596009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187856002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230502003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79385002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678051	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72284000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1609433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237714006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252658	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764951002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93745008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835929	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566958	biolink:NamedThing			mondoexuq1wtf																														
DOID:8564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720863	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77547008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861556	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226770	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71057007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206631	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015120	biolink:NamedThing	obsolete rare acquired eye disease		mondoexuq1wtf				MONDO:0000001						True		Orphanet:101949|UMLS:CN197477														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1321315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99099	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79383	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16424000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930917	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016997	biolink:NamedThing	obsolete hereditary epidermolysis bullosa associated with ocular features		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0019276			True		Orphanet:263676																		owl:Class
ORPHA:263676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389264005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268371	biolink:NamedThing			mondoexuq1wtf																														
DOID:3525	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027831	biolink:NamedThing			mondoexuq1wtf																														
DOID:6517	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#clingen	biolink:NamedThing			mondoexuq1wtf						initial subset used by clingen																								owl:AnnotationProperty
UMLS:C1849382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3056	biolink:NamedThing			mondoexuq1wtf																														
DOID:11520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72535009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716174001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399955009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563831	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0743332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193169002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342749	biolink:NamedThing			mondoexuq1wtf																														
DOID:1929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248508	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93444	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:771	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310723	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343875	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59303	biolink:NamedThing			mondoexuq1wtf																														
DOID:7356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005834	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015518	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017731	biolink:NamedThing			mondoexuq1wtf																														
DOID:10755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2124	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194988001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711499009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119422004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268136	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616056	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606895	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268062001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/551500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85198	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108200	biolink:NamedThing			mondoexuq1wtf																														
DOID:13777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165800	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011809	biolink:NamedThing	obsolete mammographic density		mondoexuq1wtf	mammographic density									True		OMIM:607308|MESH:C564595																		owl:Class
http://identifiers.org/omim/607308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180870	biolink:NamedThing			mondoexuq1wtf																														
DOID:10541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57333009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846265	biolink:NamedThing			mondoexuq1wtf																														
DOID:9427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418531007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75622000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108993	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000874	biolink:NamedThing			mondoexuq1wtf																														
DOID:4305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67787004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:440422002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253549006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447351004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536961	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718607001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809443	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431401	biolink:NamedThing			mondoexuq1wtf																														
DOID:5983	biolink:NamedThing			mondoexuq1wtf																														
DOID:4284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565326	biolink:NamedThing			mondoexuq1wtf																														
DOID:14365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203428004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858043	biolink:NamedThing			mondoexuq1wtf																														
DOID:5670	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699028006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267482009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536586	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750927	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719069008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565746	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187224004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2942	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102455002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117013	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192834006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94076001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011882	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189527000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604315	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99945	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535813	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007149	biolink:NamedThing	obsolete arbitrary restriction polymorphism 1		mondoexuq1wtf	restriction fragment length polymorphism 14A|arbitrary restriction polymorphism type 1|Rflp-14A|anonymous restriction polymorphism 1|arbitrary restriction polymorphism 1|Arp-14A					This is a gene/protein record, not a disease.				True		UMLS:C1862555|OMIM:107750														https://github.com/monarch-initiative/mondo/issues/1452				owl:Class
http://identifiers.org/omim/107750	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016134	biolink:NamedThing	obsolete rare hereditary systemic disease with peripheral neuropathy		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200898|Orphanet:207021														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C4748809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9460	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332916	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156898000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77628002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142330	biolink:NamedThing			mondoexuq1wtf																														
DOID:3495	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722113001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195935004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342877	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416402001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171690	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277622004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2939	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128381	biolink:NamedThing			mondoexuq1wtf																														
DOID:10812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846298	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191189009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186236001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44900007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155328008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751259	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580233	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016517	biolink:NamedThing	obsolete rare genetic vascular disease	Rare genetic vascular disease.	mondoexuq1wtf	rare genetic vascular disease			MONDO:0005385						True		UMLS:CN201558|Orphanet:233655														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:233655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309854	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723995003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83271005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268884000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1359	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050052	biolink:NamedThing			mondoexuq1wtf																														
DOID:2708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50342004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020026	biolink:NamedThing	obsolete rare female infertility	Rare female infertility.	mondoexuq1wtf	rare female infertility			MONDO:0021124						True		Orphanet:98049|UMLS:CN227737														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:2625009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237919007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027152	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10005053	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809684	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563734	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36118008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719686003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69087	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006833	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39274007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:109011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033129	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080086	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269550003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91952008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155092009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718215008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125900	biolink:NamedThing			mondoexuq1wtf																														
DOID:3280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432348	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535616	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75879005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110458	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015012	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715704001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187014000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155690002	biolink:NamedThing			mondoexuq1wtf																														
DOID:238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196509000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204842	biolink:NamedThing			mondoexuq1wtf																														
DOID:684	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267505006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363408006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300132001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600880	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206655	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264675	biolink:NamedThing			mondoexuq1wtf																														
DOID:5624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65655009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193884009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715431002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128046007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269628007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268056006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041974	biolink:NamedThing			mondoexuq1wtf																														
DOID:7933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6457	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002264	biolink:NamedThing	obsolete atrophy of prostate		mondoexuq1wtf	atrophic prostate|atrophy of prostate|prostate atrophy					This is not a true disease, more of a phenotype or process.				True		COHD:200147|UMLS:C0156296|DOID:2301|ICD9:602.2|ICD10:N42.2|SCTID:29524003														https://github.com/monarch-initiative/mondo/issues/2312				owl:Class
DOID:2301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615279	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63684002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155023009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1531694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180350	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188655003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35586003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563508	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260130	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15973007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702346005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268178001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1918	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:821	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254851009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267768008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090015	biolink:NamedThing			mondoexuq1wtf																														
DOID:6379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2940786	biolink:NamedThing			mondoexuq1wtf																														
DOID:4029	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35111	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58265007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151036	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014188	biolink:NamedThing			mondoexuq1wtf																														
DOID:4301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721629005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865614	biolink:NamedThing			mondoexuq1wtf																														
DOID:4515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1963674	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748503	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719045009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416960004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280856	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733490006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77949003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612245	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007827	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538607	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541456	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29548007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193912000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613456	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98842	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001197	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535739	biolink:NamedThing			mondoexuq1wtf																														
DOID:12731	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_etiological_subtype	biolink:NamedThing			mondoexuq1wtf						etiological subtype																								owl:AnnotationProperty
UMLS:C0242916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070298	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268756002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92428008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367372008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:924	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018753	biolink:NamedThing	obsolete rare disease with malignant hyperthermia		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:466658|UMLS:CN242072														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:46586006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565296	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722122000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345375	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154798006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233667003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277480	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1482004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57606003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198369007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027868	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334551	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192464008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857619	biolink:NamedThing			mondoexuq1wtf																														
DOID:7912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34424	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715720006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266218008	biolink:NamedThing			mondoexuq1wtf																														
DOID:8455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19721008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720464003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600502	biolink:NamedThing			mondoexuq1wtf																														
DOID:6201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402917003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615281	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535725	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163717	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205649008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253000007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266659005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36348003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266475002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042974	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249630	biolink:NamedThing			mondoexuq1wtf																														
DOID:10156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192372006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335170	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868619	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535815	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858501	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194356004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:407675009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156967003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677605	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000163	biolink:NamedThing			mondoexuq1wtf																														
DOID:456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128306009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155283004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613087	biolink:NamedThing			mondoexuq1wtf																														
DOID:10040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013479	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN603947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723411003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182	biolink:NamedThing			mondoexuq1wtf																														
DOID:955	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856971	biolink:NamedThing			mondoexuq1wtf																														
DOID:14004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155272	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443928008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193700	biolink:NamedThing			mondoexuq1wtf																														
DOID:5479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188739004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719664004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614254	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254791004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190821002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254994000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0595989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154543003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117104	biolink:NamedThing			mondoexuq1wtf																														
DOID:2536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056647	biolink:NamedThing			mondoexuq1wtf																														
DOID:12451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840265	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155297007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110749	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:620	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155418	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210720	biolink:NamedThing			mondoexuq1wtf																														
DOID:2833	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126736007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92056006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395849	biolink:NamedThing			mondoexuq1wtf																														
DOID:9250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239191	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1541	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044250	biolink:NamedThing	obsolete tongue curling, folding, or rolling		mondoexuq1wtf	trefoil tongue|cloverleaf tongue|tongue curling, folding, or rolling					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:189300																		owl:Class
http://identifiers.org/omim/189300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126864006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7059	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606215	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271333	biolink:NamedThing			mondoexuq1wtf																														
UBERON:0003902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000979	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0012532	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9364	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001276	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11769	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002156	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035289	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004982	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3179	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8740	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000586	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007600	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4805	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1513	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004452	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15533	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003077	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6922	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20858	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012249	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1773	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19693	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:29461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C52005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4283	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:28845	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:590	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4598	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24945	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10255	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10898	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6231	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008480	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14988	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:16709	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24525	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6192	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000013016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:894	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3671	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:84	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr3	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:42862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0016490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002617	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009069	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002205	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0034986	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23143	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:53	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:140564	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4137	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19351	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6269	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2933	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:24261	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27288	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7720	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0050667	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29937	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25415	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009854	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2745	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002904	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0006476	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9052	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29326	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:480418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19368	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25695	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4798	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10891	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000518	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11653	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19139	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11155	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000915	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4431	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11204	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:33551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015693	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002312	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27960	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3239	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0100306	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000192	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000819	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:886	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13339	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7744	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23038	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17158	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8967	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0000019	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:55194	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0001591	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17063	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11588	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980442	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001662	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8931	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25382	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:3011045	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012303	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25523	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28093	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24502	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18085	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28423	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1956	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8846	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0093001	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25751	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003474	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002840	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28526	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001679	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:795	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000998	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18712	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0036374	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:17015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:302011	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3309	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:6067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28557	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8787	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23068	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6621	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25455	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:39080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:76804	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19957	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:31286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:329	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:39030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30078	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:694009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001259	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6758	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20422	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:169495	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25608	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001829	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6947	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7820	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1232	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MFOMD_0000105	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003187	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CL:0002573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25532	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30539	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13281	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001114	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:147573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6259	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12843	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0000389	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11191	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11581	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4796	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:45258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31673	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18654	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:566	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6293	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10257	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3534	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2183	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:37162	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31923	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6595	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000007547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1485	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11538	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25567	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1260	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19125	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3544	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4612	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24624	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20859	biolink:NamedThing			mondoexuq1wtf																														owl:Class
SO:1000029	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0099080	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005777	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6317	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010391	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8124	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:35788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001384	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0042697	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19380	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28422	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010316	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15804	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28570	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:39733	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26022	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1346	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23213	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6106	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17043	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11122	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:02000099	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0007616	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:104454	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11449	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8907	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28900	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002021	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7208	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17042	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11733	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3483	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1463975	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10536	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15766	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:138	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6701	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7147	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25902	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000315	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0080145	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10729	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11142	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010550	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001891	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000924	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14628	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2208	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006694	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036214	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001942	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21484	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0012429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006134	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9965	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006517	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7693	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001334	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30668	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4172	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17870	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20788	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8079	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23096	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19100	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21580	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010976	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7045	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14203	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007411	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3771	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14304	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1058	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12338	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002410	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010524	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23215	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ENVO:01001288	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2150	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001649	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24475	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3012	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:685953	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1552	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:115425	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13433	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0018549	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16692	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26193	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0015723	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25557	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26661	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11095	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002093	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2397	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6483	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0060073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5506	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4036	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2719	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:129	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29594	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6664	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:794	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3229	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18626	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2896	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7660	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9678	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12406	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21498	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001762	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18618	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20761	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0022848	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:32700	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007596	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001457	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20151	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18420	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0047708	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0200067	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008119	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007568	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006547	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:172148	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010525	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1789	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001987	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11474	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0002376	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11292	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004466	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:753	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7603	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004602	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6341	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26504	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0034101	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008643	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3373	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8028	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11480	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19691	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9154	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1983	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7684	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000955	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2590	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4318	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2226	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:299467	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2418	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5044	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1785	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000165	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3395	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1971	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9816	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14977	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21558	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17997	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21698	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:CHR_9606-chr17	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0018149	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23247	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26559	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:649188	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16353	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7716	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25419	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0007507	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:756	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6181	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:33748	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:19689	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29059	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0009064	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6018	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:69826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2548	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:745	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24717	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001133	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1352	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:25367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11799	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000286	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001707	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9330	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24338	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2515	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002398	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24537	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10279	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14344	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24529	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1535326	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12371	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2252	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25439	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5017	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3233	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4175	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11274	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16627	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18150	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10313	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28072	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25808	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26724	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30650	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001961	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10939	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0070085	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11270	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11763	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002048	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7703	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6284	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0013768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30417	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18276	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10907	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10560	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002331	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10524	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:31648	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:6334	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010527	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16429	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:30742	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003015	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008974	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18127	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8889	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:226665	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004757	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29478	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11285	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004875	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002223	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6055	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0005295	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:28314	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0060235	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11536	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2888	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000966	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1386	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003911	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0009097	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:317865	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:121791	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030421	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14361	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7713	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:393	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8855	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13481	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:321	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0035932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14244	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000010	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4136	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1492	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:34607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006075	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:71584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7436	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PATO:0000647	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29222	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C15497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28296	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005355	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0061702	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6891	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16901	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2890	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20577	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17994	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18802	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30035	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11850	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9350	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20653	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25535	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0006705	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8850	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:49202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:36855	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:38323	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:62324	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10402	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003690	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10879	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11497	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23026	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003635	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036267	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0006073	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14583	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11408	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:22932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:40	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11103	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18884	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7737	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C36104	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1477	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5542	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11811	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1917	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3434	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:186938	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001750	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001556	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28514	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0009066	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5461	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14282	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001905	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0004357	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24668	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004085	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16287	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002428	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:7387	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3573	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11608	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0005750	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24862	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4868	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035416	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17646	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13666	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28722	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3969	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001016	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17935	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002366	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10310	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0010980	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001300	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001158	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001135	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3236	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12784	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4861	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29316	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10116	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005541	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4932	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001448	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2726	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0002240	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9305	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7683	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008846	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:5039	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9414	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2263	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001456	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:24912	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21390	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10664	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3587	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003225	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980490	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:32528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001166	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23752	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11146	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:868	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OBO:MFOMD_0000107	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:137207	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:1062	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:812	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000402	biolink:NamedThing			mondoexuq1wtf																														owl:Class
FOODON:03315468	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:33993	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:5008	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:809	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12404	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010185	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4092	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004444	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0003842	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3046	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11551	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001686	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001941	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14631	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12840	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10941	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001434	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29401	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001894	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004915	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11005	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:71585	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12509	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:29685	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12014	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:27365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25815	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0005508	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0014385	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1402491	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0004349	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11633	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11183	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2593	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0002030	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001009	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8604	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:471472	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:119095	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0008202	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0001887	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6487	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:10258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0072359	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001609	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:318479	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15480	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003307	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6774	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2561	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11584	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:575	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18466	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16510	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28369	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20376	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11084	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10440	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C37123	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:30760	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0030057	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13394	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031348	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:35790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:362	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15718	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ECTO:0001108	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0001651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:18374	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4454	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0011842	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2873	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3378	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:15844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0006790	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4087	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9082	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0061370	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13345	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11098	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21424	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0035450	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2714	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000768	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0011826	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:644	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:13273	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000088	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3823	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0004367	biolink:NamedThing			mondoexuq1wtf																														owl:Class
CHEBI:15765	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0045254	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6501	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C45981	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000090	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11530	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8592	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0036262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14262	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4580	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:11216	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10555	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3006	biolink:NamedThing			mondoexuq1wtf																														owl:Class
SO:0000054	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:91	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003693	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11050	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0010996	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0001797	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6278	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0071696	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0003343	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11180	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2728	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11365	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0030186	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0031258	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:28909	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8157	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20197	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:3951	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1980519	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0000388	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:118	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:23987	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:16280	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:14857	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0008734	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0000528	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6819	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21396	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:8959	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:629	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:17412	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003674	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:227984	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:12582	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HP:0003076	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:25576	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:6597	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:4801	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:1824	biolink:NamedThing			mondoexuq1wtf																														owl:Class
PR:000009651	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11049	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:803	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:11506	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0014908	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:567	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UBERON:0008822	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10301	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:10306	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7329	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:9607	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:21033	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:7523	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:26013	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:20407	biolink:NamedThing			mondoexuq1wtf																														owl:Class
HGNC:2210	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCBITaxon:772	biolink:NamedThing			mondoexuq1wtf																														owl:Class
NCIT:C131632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346037	biolink:NamedThing			mondoexuq1wtf																														
DOID:13405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157135006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2239	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011910	biolink:NamedThing	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.	mondoexuq1wtf	limb-girdle muscular dystrophy due to caveolin-3 deficiency|LGMD1C|limb-girdle muscular dystrophy type 1C|muscular dystrophy, limb-girdle, type IC|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|muscular dystrophy, limb-girdle, type 1C|muscular dystrophy limb-girdle type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy			MONDO:0019947						True		ICD10:G71.0|DOID:0110302|MESH:C563362|NCIT:C148318|OMIM:607801|UMLS:C1832567|SCTID:719986000|GARD:0012527|Orphanet:265																		owl:Class
ORPHA:295213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842371	biolink:NamedThing			mondoexuq1wtf																														
DOID:9923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111199	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018798	biolink:NamedThing			mondoexuq1wtf																														
DOID:8398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141261	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229706001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61842000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009087	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3348	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310740	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74333002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720520009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155068	biolink:NamedThing			mondoexuq1wtf																														
DOID:12514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1314694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0950121	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124668009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397795007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:380	biolink:NamedThing			mondoexuq1wtf																														
DOID:1998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554452	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196003006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31027006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202466008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4316815	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126551000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128795001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C72070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194955008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861452	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41427001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197280008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15459006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763127004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266373008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279654	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050594	biolink:NamedThing			mondoexuq1wtf																														
DOID:10880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72994002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021466	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C4274995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204955006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75659004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201191004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855348	biolink:NamedThing			mondoexuq1wtf																														
DOID:8747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1319	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047586	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432203	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060141	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3014	biolink:NamedThing			mondoexuq1wtf																														
DOID:5751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615198	biolink:NamedThing			mondoexuq1wtf																														
DOID:13941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609578001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:109007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050604	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156437000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276161	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193909003	biolink:NamedThing			mondoexuq1wtf																														
DOID:12402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237531001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254682006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554691	biolink:NamedThing			mondoexuq1wtf																														
DOID:9252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154531004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78048006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4410	biolink:NamedThing			mondoexuq1wtf																														
DOID:712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98261	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018887	biolink:NamedThing	obsolete rare cutaneous lupus erythematosus	Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).	mondoexuq1wtf	rare cutaneous lupus erythematosus			MONDO:0005282			ICD10:L93.0|MESH:D008178|MedDRA:10056509|ICD10:L93.2|UMLS:C0024137|ICD10:L93.1			True		Orphanet:535														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:58161009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31992008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94080006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70610001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537472	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110704	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764500002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233850007	biolink:NamedThing			mondoexuq1wtf																														
http://orcid.org/0000-0001-5208-3432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864871	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018387	biolink:NamedThing	obsolete rare male infertility due to adrenal disorder		mondoexuq1wtf		MONDO:outOfScope					ICD10:N46			True		UMLS:CN227335|Orphanet:399584														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0111283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211240	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126696001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255035007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674249	biolink:NamedThing			mondoexuq1wtf																														
DOID:8369	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845446	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004213	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537164	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677107	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564257	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84027009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449817000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333416	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:368009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11093006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41381	biolink:NamedThing			mondoexuq1wtf																														
DOID:7381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201202007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516858	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38645004	biolink:NamedThing			mondoexuq1wtf																														
DOID:170	biolink:NamedThing			mondoexuq1wtf																														
DOID:7788	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266202002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101050	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003571	biolink:NamedThing	obsolete labyrinthine dysfunction		mondoexuq1wtf						This is considered a phenotype, hence it was obsoleted.	MONDO:0002467|HP:0000359			True		DOID:566|ICD10:H83.2|ICD9:386.50|ICD9:386.58|COHD:78771|UMLS:C0155514|ICD9:386.5|ICD10:H83.2X9|SCTID:5239005|ICD10:H83.2X														https://github.com/monarch-initiative/mondo/issues/389				owl:Class
UMLS:C0155514	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254103003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254822	biolink:NamedThing			mondoexuq1wtf																														
DOID:12836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62064005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703614006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN596207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585216	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254847007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027092	biolink:NamedThing			mondoexuq1wtf																														
DOID:5999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266547002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154641007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267523003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291560	biolink:NamedThing			mondoexuq1wtf																														
DOID:4493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155351008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229247004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33209009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615985	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30800001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711155008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4287008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719515001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363515000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51626007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50330009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751547	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616944	biolink:NamedThing			mondoexuq1wtf																														
DOID:8645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719827008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267572005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188725004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400123002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111210	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#n_of_one	biolink:NamedThing			mondoexuq1wtf						N of one																								owl:AnnotationProperty
SNOMEDCT:189594000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517744	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110288	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253269002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810042	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852455	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2511	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428850001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702431004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857496	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7978	biolink:NamedThing			mondoexuq1wtf																														
DOID:14402	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81393009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699421005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110969	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562812	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564248	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001193	biolink:NamedThing	obsolete chorioretinal scar		mondoexuq1wtf				HP:0007777						True		COHD:433196|SCTID:53854005|ICD10:H31.0|DOID:11086|ICD9:363.3|ICD9:363.30|ICD10:H31.00																		owl:Class
UMLS:C0008512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251255	biolink:NamedThing			mondoexuq1wtf																														
DOID:2582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1735886	biolink:NamedThing			mondoexuq1wtf																														
DOID:9790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198244005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363347009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345668	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563184	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015911	biolink:NamedThing	obsolete rare acquired hemolytic anemia	Hemolytic anemia, the cause of which is not present at birth.	mondoexuq1wtf	Acquired hemolytic Anemia			MONDO:0003664			ICD10:D59.2|ICD10:D59.3|ICD10:D59.9|UMLS:C0002879|ICD10:D59.8|ICD10:D59.0|ICD10:D59.4|ICD10:D59.5|ICD10:D59.6|ICD10:D59.1			True		Orphanet:182047|SCTID:4854004|NCIT:C34377														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C34377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38528001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61500009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52967002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53226007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363352004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57203004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408856003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59939007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98720	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009427	biolink:NamedThing	obsolete infantile hypophosphatasia	Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.	mondoexuq1wtf	HOPS|infantile Rathburn disease|hypophosphatasia, infantile|hypophosphatasia, perinatal lethal|infantile phosphoethanolaminuria	out of scope					http://purl.obolibrary.org/obo/MONDO_0600009|http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600010			True		ICD10:E83.3|DOID:0110914|Orphanet:247651|UMLS:C0268412|SCTID:55236002|OMIM:241500														https://github.com/monarch-initiative/mondo/issues/2906				owl:Class
DOID:681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81678004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84340007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154592009	biolink:NamedThing			mondoexuq1wtf																														
DOID:8741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230298007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1963002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199293	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020029	biolink:NamedThing	obsolete rare genetic cardiac disease	Rare genetic heart disease.	mondoexuq1wtf	rare genetic heart disease			MONDO:0005267						True		Orphanet:98054|UMLS:CN206954														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:720460007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019069	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851958	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35588	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015882	biolink:NamedThing	obsolete rare tumor of pancreas	Any of the forms of pancreatic neoplasm that have a rare incidence.	mondoexuq1wtf	rare pancreas tumor|rare pancreas neoplasm|rare pancreatic neoplasm|rare pancreatic tumor			MONDO:0021040			UMLS:C0030297|MedDRA:10061902			True		Orphanet:180824														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C2930993	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567853	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033822	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269601002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267398003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795861	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363727	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021217	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1333967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49915006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430909002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55925001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015162	biolink:NamedThing	obsolete rare syndromic intellectual disability	Rare syndromic intellectual disability.	mondoexuq1wtf	rare syndromic intellectual disability			MONDO:0000508						True		Orphanet:102369|UMLS:CN226611														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:102369	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:29072	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609561005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191989005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN373594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4746985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233947005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393579008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020189	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261630	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230467008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197284004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34586	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015513	biolink:NamedThing	obsolete rare genetic endocrine disease	A form of endocrine system disease that is both rare and inborn.	mondoexuq1wtf	rare genetic endocrine system disease			MONDO:0005151						True		UMLS:CN199645|Orphanet:156638														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:267495004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564024	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015969	biolink:NamedThing	obsolete rare genetic thyroid disease	Rare genetic thyroid disease.	mondoexuq1wtf	rare genetic thyroid disease			MONDO:0003240						True		UMLS:CN200568|Orphanet:183631														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:56038003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85809002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1824927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267472008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266191005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699014000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57602001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79167	biolink:NamedThing			mondoexuq1wtf																														
DOID:1442	biolink:NamedThing			mondoexuq1wtf																														
DOID:14463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203183003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1168198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49762007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17465007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86103006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001546	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702377007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108450	biolink:NamedThing			mondoexuq1wtf																														
DOID:9599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725142004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370143000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203955	biolink:NamedThing			mondoexuq1wtf																														
DOID:13120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251994004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48500005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189655006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254823000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856871	biolink:NamedThing			mondoexuq1wtf																														
DOID:471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70694009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85330	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012626	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3829	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205685008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018598	biolink:NamedThing	obsolete neonatal adrenoleukodystrophy	Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).	mondoexuq1wtf	adrenoleukodystrophy autosomal neonatal form|NALD	out of scope					MONDO:0019609			True		UMLS:C0282525|Orphanet:44|GARD:0000559|ICD10:E71.3|ICD10:E71.511|NCIT:C99251|SCTID:238061001														https://github.com/monarch-initiative/mondo/issues/3222|https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy				owl:Class
SNOMEDCT:238061001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4593	biolink:NamedThing			mondoexuq1wtf																														
DOID:2598	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722119002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27879	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_clinical_situation	biolink:NamedThing			mondoexuq1wtf						particular clinical situation in a disease or syndrome																								owl:AnnotationProperty
http://identifiers.org/omim/615395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859259	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6605	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51689003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238848002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419952004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74025007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255082000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854924	biolink:NamedThing			mondoexuq1wtf																														
DOID:5662	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002510	biolink:NamedThing	obsolete germ cell and embryonal cancer	Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus.	mondoexuq1wtf	germ cell and embryonal neoplasm					Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed.	MONDO:0005040			True		DOID:3095|MESH:D009373														https://github.com/monarch-initiative/mondo/issues/376				owl:Class
DOID:3095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376550	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111645	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254719003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26121002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:30925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606482	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156369008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268104	biolink:NamedThing			mondoexuq1wtf																														
DOID:14042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187859009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535408	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010990	biolink:NamedThing	obsolete Cd4/CD8 T-cell ratio		mondoexuq1wtf	Cd4/CD8 T-cell ratio	out of scope					NCIT:C74637|HP:0031394			True		OMIM:601083														https://github.com/monarch-initiative/mondo/issues/2941				owl:Class
UMLS:C1832816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401901	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537043	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004828	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795998	biolink:NamedThing			mondoexuq1wtf																														
DOID:2642	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189722008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84744	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40017	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0994516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205681004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003165	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020030	biolink:NamedThing	obsolete rare genetic renal disease		mondoexuq1wtf				MONDO:0005240						True		Orphanet:98056|UMLS:CN206955														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763130006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76682005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428111003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715736008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49468007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277180	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206864004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84727000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190549002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031037	biolink:NamedThing			mondoexuq1wtf																														
MESH:D041761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764622004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721296004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50920009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724228005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1134719	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156913009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3889636	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50375007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436	biolink:NamedThing			mondoexuq1wtf																														
DOID:10938	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610744	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5825	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013299	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268631	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128790006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039590	biolink:NamedThing			mondoexuq1wtf																														
DOID:3587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835663	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194003009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190506003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202288	biolink:NamedThing			mondoexuq1wtf																														
DOID:3210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722032005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237913008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865926	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#speculative	biolink:NamedThing			mondoexuq1wtf						A hypothesized disease whose existence is speculative																								owl:AnnotationProperty
MONDO:0001659	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
IAO:0000227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186495001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359789008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930862	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618672	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004167	biolink:NamedThing	obsolete lung clear cell carcinoma		mondoexuq1wtf				MONDO:0024386						True		UMLS:C0345959|DOID:7267|SCTID:254630009																		owl:Class
SNOMEDCT:254630009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79503	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703524005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27274	biolink:NamedThing			mondoexuq1wtf																														
DOID:13823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189819001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7045	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702829000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155209003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2036	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196331007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230558006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1440	biolink:NamedThing			mondoexuq1wtf																														
DOID:4140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195968006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255009006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564197	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018508	biolink:NamedThing	obsolete rare carcinoma of small intestine	Any of the forms of small intestine carcinoma that have a rare incidence.	mondoexuq1wtf	rare carcinoma of small bowel|rare small intestine carcinoma			MONDO:0005522			UMLS:C0238196			True		Orphanet:423957														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1863599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194301004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060428	biolink:NamedThing			mondoexuq1wtf																														
DOID:13626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198167003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2312	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538285	biolink:NamedThing			mondoexuq1wtf																														
DOID:5621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2004461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268163008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726702005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43469007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44145005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536501	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225321	biolink:NamedThing			mondoexuq1wtf																														
DOID:2064	biolink:NamedThing			mondoexuq1wtf																														
DOID:5267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180900	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015983	biolink:NamedThing	obsolete rare genetic syndromic intellectual disability	Rare genetic syndromic intellectual disability.	mondoexuq1wtf	rare genetic syndromic intellectual disability			MONDO:0000508						True		UMLS:CN226822|Orphanet:183763														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C566980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44647001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290401	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138110	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6532	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3636504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2710003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56317004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93581	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015187	biolink:NamedThing	obsolete rare inflammatory bowel disease	Rare inflammatory bowel disease.	mondoexuq1wtf	rare inflammatory bowel disease			MONDO:0005265			UMLS:C0021390			True		Orphanet:104012														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:404036006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479588	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723406000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201135	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201107006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197651008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1561855	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26629001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63144007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206877	biolink:NamedThing			mondoexuq1wtf																														
DOID:2751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235889003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251863	biolink:NamedThing			mondoexuq1wtf																														
DOID:13664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83225003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15167005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538281	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854577	biolink:NamedThing			mondoexuq1wtf																														
DOID:5804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230736007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931835	biolink:NamedThing			mondoexuq1wtf																														
DOID:2609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191847003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109853004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266257000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154441003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011750	biolink:NamedThing	obsolete insulinoma tumor suppressor gene locus		mondoexuq1wtf	insulinoma tumor suppressor gene locus									True		OMIM:606960																		owl:Class
UMLS:C1847015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2694001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868686	biolink:NamedThing			mondoexuq1wtf																														
DOID:14026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18116006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070156	biolink:NamedThing			mondoexuq1wtf																														
DOID:12667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406756	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007639	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36218	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763716008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269541000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0747533	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12834001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016254	biolink:NamedThing	obsolete rare variants of adenocarcinoma of the corpus uteri		mondoexuq1wtf		out of scope					MONDO:0003629			True		Orphanet:213574|ICD10:C54.1|UMLS:CN201043														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:213574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205101	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193689002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19928005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567144	biolink:NamedThing			mondoexuq1wtf																														
DOID:3490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60735000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842058	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020551	biolink:NamedThing			mondoexuq1wtf																														
DOID:9098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191730005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33560006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766239009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189709000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0332965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154089	biolink:NamedThing			mondoexuq1wtf																														
DOID:12639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231670	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763345008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500055	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175505	biolink:NamedThing			mondoexuq1wtf																														
DOID:6098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186315001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193160003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0596869	biolink:NamedThing			mondoexuq1wtf																														
DOID:10976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0743086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262029	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564991	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188272000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68706009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703601005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204056	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50945	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125630	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15346004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752015	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111280008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51286002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970439	biolink:NamedThing			mondoexuq1wtf																														
DOID:732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4726	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020152	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193145	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1565489	biolink:NamedThing			mondoexuq1wtf																														
DOID:13214	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155182003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57186002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344542	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142623	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014239	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1802	biolink:NamedThing			mondoexuq1wtf																														
DOID:9452	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020014	biolink:NamedThing	obsolete rare disease with odontological manifestation		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN206947|Orphanet:98027														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004374	biolink:NamedThing			mondoexuq1wtf																														
DOID:4685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417044008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397434007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422886007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267639001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6959	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011832	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270100	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018512	biolink:NamedThing	obsolete rare epithelial tumor of colon	Any of the forms of epithelial tumor of colon that have a rare incidence.	mondoexuq1wtf	rare epithelial tumor of colon			MONDO:0024479						True		Orphanet:423991|UMLS:CN237517														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN237517	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186283004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3695063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN238807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363189	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300539	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022266	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:D010214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162834	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615207	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1884	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009976	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206634	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000746	biolink:NamedThing	obsolete inguinal hernia	The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.	mondoexuq1wtf						Represents finding.	HP:0000023			True		MESH:D006552|ICD10:K40|DOID:0060320|COHD:4288544|ICD9:550.90|ICD10:K40.90|ICD9:550|NCIT:C34690|SCTID:396232000|HP:0000023														https://github.com/monarch-initiative/mondo/issues/1777				owl:Class
NCIT:C34690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254846003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535961	biolink:NamedThing			mondoexuq1wtf																														
DOID:5623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230276003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204954005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:260588007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128290	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001872	biolink:NamedThing	obsolete vestibular nystagmus		mondoexuq1wtf	Nystagmus associated with disorder of the vestibular system|obsolete vestibular nystagmus (disease)|vestibular nystagmus		obsolete vestibular nystagmus (disease)	HP:0010542						True		ICD9:379.54|COHD:377568|SCTID:46888001|UMLS:C0155379|DOID:14070																		owl:Class
DOID:14070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718771009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711645	biolink:NamedThing			mondoexuq1wtf																														
https://github.com/monarch-initiative/mondo/issues/3452	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190384004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190963004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89600009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677580	biolink:NamedThing			mondoexuq1wtf																														
OIO:SubsetProperty	biolink:NamedThing	subset_property		mondoexuq1wtf																														owl:AnnotationProperty
ORPHA:391376	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619223	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6042	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28944009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155193001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225973	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2867	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206730	biolink:NamedThing			mondoexuq1wtf																														
DOID:12720	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044261	biolink:NamedThing	obsolete menoq1		mondoexuq1wtf	MENOQ1|menopause, natural, AGE AT, quantitative trait locus 1					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:300488																		owl:Class
http://identifiers.org/omim/300488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402427003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254629004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725048002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618252	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565705	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044218	biolink:NamedThing	obsolete beeturia		mondoexuq1wtf	Betacyaninuria|BEETURIA					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:109600																		owl:Class
http://identifiers.org/omim/109600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537422	biolink:NamedThing			mondoexuq1wtf																														
DOID:4454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1272677	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005141	biolink:NamedThing			mondoexuq1wtf																														
DOID:14320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61071003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64557000	biolink:NamedThing			mondoexuq1wtf																														
DOID:12510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69663	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751938	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011467	biolink:NamedThing	obsolete human herpesvirus type 6, integrated		mondoexuq1wtf	human herpesvirus type 6, integrated									True		UMLS:C1858340|OMIM:604474|MESH:C565771																		owl:Class
MESH:C565771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203030008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93949007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197718007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271985	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154873003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537797	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186165000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703285005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049416	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254652000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191767002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7016	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5154	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424091006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195690008	biolink:NamedThing			mondoexuq1wtf																														
DOID:8476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248450	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111194	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186088002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10159	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85505000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93810008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4603	biolink:NamedThing			mondoexuq1wtf																														
DOID:8162	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4502	biolink:NamedThing			mondoexuq1wtf																														
DOID:9299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:473010000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4087124	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269700	biolink:NamedThing			mondoexuq1wtf																														
DOID:5137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23966000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334572	biolink:NamedThing			mondoexuq1wtf																														
DOID:10691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126858004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835815	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535908	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719659003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154891008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156318008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154991009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030328	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5731	biolink:NamedThing			mondoexuq1wtf																														
DOID:3535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79304	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010254	biolink:NamedThing	obsolete hematopoietic stem cell kinetics, control of		mondoexuq1wtf	hematopoietic stem cell kinetics, control of									True		OMIM:300129																		owl:Class
UMLS:C1848046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91232002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154462002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22886006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020002	biolink:NamedThing	obsolete rare surgical thoracic disease		mondoexuq1wtf				MONDO:0000001						True		UMLS:CN206935|Orphanet:97962														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445741003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3474	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo/sparql/qc/general/qc-single-child.sparql	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235604	biolink:NamedThing			mondoexuq1wtf																														
DOID:1070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154358007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314998002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552852	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276577009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111303009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155500003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014338	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205587006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154751003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9408	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751092	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188482002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400942002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846843	biolink:NamedThing			mondoexuq1wtf																														
DOID:5048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156581006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:400003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838571	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26484003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008204	biolink:NamedThing	obsolete patella aplasia, coxa vara, and tarsal synostosis		mondoexuq1wtf	patella aplasia, coxa vara, and tarsal synostosis						MONDO:0007841			True		MESH:C536307|OMIM:168850																		owl:Class
MESH:C536307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276328002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93177	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509836	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725912001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715528001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98566	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4512050	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248453001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109298000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248437004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240633005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230482003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156379005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617904	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64766004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856111	biolink:NamedThing			mondoexuq1wtf																														
DOID:2834	biolink:NamedThing			mondoexuq1wtf																														
DOID:4798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156995003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722004001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334588	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126953009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213797	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019348	biolink:NamedThing	obsolete Ehlers-Danlos syndrome with periventricular heterotopia	Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva.	mondoexuq1wtf	EDS with periventricular heterotopia					Obsolete in Orphanet	MONDO:0020341			True		UMLS:C4303790|Orphanet:82004|SCTID:720857006|ICD10:Q79.6																		owl:Class
http://identifiers.org/omim/300537	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6625	biolink:NamedThing			mondoexuq1wtf																														
DOID:8557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200719000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94119000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448045004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190874007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187207005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154978008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186653003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535504	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9723006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155581001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613576	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7402	biolink:NamedThing			mondoexuq1wtf																														
DOID:3149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2547	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002313	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858361	biolink:NamedThing			mondoexuq1wtf																														
DOID:4394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948187	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253528005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54280009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3011	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38408	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536653	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721087008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333777	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018401	biolink:NamedThing	obsolete female infertility due to an anomaly of ovarian function		mondoexuq1wtf		MONDO:outOfScope					ICD10:N97.0			True		Orphanet:399853|UMLS:CN227347														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C119054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31956009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837329	biolink:NamedThing			mondoexuq1wtf																														
DOID:7489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190859005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039202	biolink:NamedThing			mondoexuq1wtf																														
DOID:7319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266559003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715669000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721147000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006142	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021448	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1879286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060820	biolink:NamedThing			mondoexuq1wtf																														
DOID:6579	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400115004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616216	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98687	biolink:NamedThing			mondoexuq1wtf																														
DOID:4914	biolink:NamedThing			mondoexuq1wtf																														
DOID:11549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702816000	biolink:NamedThing			mondoexuq1wtf																														
DOID:14324	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191139001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3074	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536671	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708980	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019274	biolink:NamedThing	obsolete other epidermal disorder		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		UMLS:CN227609|Orphanet:79359														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN227609	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445479007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193538009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286946008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197061002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445436005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127322007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254693008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237570007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153396	biolink:NamedThing			mondoexuq1wtf																														
DOID:84	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:985004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225228	biolink:NamedThing			mondoexuq1wtf																														
DOID:562	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051962	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253095007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77377001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085438	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859973	biolink:NamedThing			mondoexuq1wtf																														
DOID:9306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186985002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62501005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563981	biolink:NamedThing			mondoexuq1wtf																														
DOID:4527	biolink:NamedThing			mondoexuq1wtf																														
DOID:13491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314432	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38822007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030757	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195013005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89740008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615777	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3472614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9151	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839454	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:39812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27922	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12942001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987241	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018814	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367537006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9953	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832594	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191743005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68364	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155185001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4536006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329308	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018520	biolink:NamedThing	obsolete rare epithelial tumor of pancreas		mondoexuq1wtf	rare pancreatic epithelial tumor	MONDO:outOfScope				Editor note: TODO				True		Orphanet:424033|UMLS:CN237523														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MONDO:0019096	biolink:NamedThing	obsolete rare pulmonary hypertension	Rare pulmonary hypertension.	mondoexuq1wtf	rare pulmonary hypertension			MONDO:0005149						True		Orphanet:71198|UMLS:CN227571														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C99144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79259	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020803	biolink:NamedThing	obsolete bundle branch block	A defect of the bundle branches or fascicles in the electrical conduction system of the heart.	mondoexuq1wtf							HP:0011710			True		SCTID:6374002														https://github.com/monarch-initiative/mondo/issues/2536				owl:Class
SNOMEDCT:6374002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931352	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565449	biolink:NamedThing			mondoexuq1wtf																														
DOID:1293	biolink:NamedThing			mondoexuq1wtf																														
DOID:914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154735006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4045	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3312	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39823	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3466	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566968	biolink:NamedThing			mondoexuq1wtf																														
DOID:4719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699676006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565249	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58918007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725587007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2868	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2044	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35083	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003683	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0346342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036118	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98370	biolink:NamedThing			mondoexuq1wtf																														
DOID:240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75065003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238719003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196705008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60893000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448131008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66931009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403967000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60412004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764963007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151572	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242597	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418186002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857342	biolink:NamedThing			mondoexuq1wtf																														
DOID:5330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518807	biolink:NamedThing			mondoexuq1wtf																														
DOID:1768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674723	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233689004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540321	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020206	biolink:NamedThing	obsolete rare refraction anomaly		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0034951			True		Orphanet:98618														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:190867002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720568003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33882007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986550	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001589	biolink:NamedThing	obsolete vaginal enterocele		mondoexuq1wtf	vaginal hernia|enterocele					Represents finding.	HP:0100672			True		DOID:1283|ICD10:N81.5|COHD:4162218|SCTID:398061002|ICD9:618.6|ICD10:K46														https://github.com/monarch-initiative/mondo/issues/1777				owl:Class
DOID:3116	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617974	biolink:NamedThing			mondoexuq1wtf																														
DOID:7492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335063	biolink:NamedThing			mondoexuq1wtf																														
DOID:2856	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93447	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197332007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145590	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7167	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97563	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23560001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052075	biolink:NamedThing			mondoexuq1wtf																														
DOID:9788	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044217	biolink:NamedThing	obsolete asparagus, specific smell hypersensitivity		mondoexuq1wtf	asparagus, specific smell hypersensitivity					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:108390																		owl:Class
UMLS:C1862460	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001254	biolink:NamedThing	obsolete peripheral scars of retina		mondoexuq1wtf										True		DOID:11283|ICD9:363.34																		owl:Class
UMLS:C0154888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719517009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301355	biolink:NamedThing			mondoexuq1wtf																														
DOID:9768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267719008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68944005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84764	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34357	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020671	biolink:NamedThing	obsolete susceptibility to ischemic stroke		mondoexuq1wtf	cerebral infarction|cerebrovascular accident|stroke, ischemic					Phenotype and not a disease.	HP:0002140			True		OMIM:601367														https://github.com/monarch-initiative/mondo/issues/2804				owl:Class
UMLS:C0948008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187691008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14988006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9428	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110140	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017458	biolink:NamedThing	obsolete postaxial polydactyly of toes		mondoexuq1wtf	postaxial polydactyly of foot					Obsolete in Orphanet	MONDO:0011348			True		ICD10:Q69.2|SCTID:205133005|GARD:0012770|Orphanet:295008																		owl:Class
ORPHA:295008	biolink:NamedThing			mondoexuq1wtf																														
DOID:227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34953	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719432000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3892048	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2609	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276482004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203367009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519926	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:431591000124102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92100009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725103004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186667007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230432008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617836	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155858005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238867003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128746001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193761009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154583006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155062000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193542007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1961121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3468005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562901	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152084	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251230	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020191	biolink:NamedThing	obsolete eyebrow/eyelashes pigmentation anomaly		mondoexuq1wtf							HP:0002227|HP:0002226			True		Orphanet:98601														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
SNOMEDCT:46720004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854915	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32230006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613157	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2048	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111705	biolink:NamedThing			mondoexuq1wtf																														
DOID:9740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206468	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538597	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:130	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189953001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839046	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018722	biolink:NamedThing	obsolete primary lymphedema with associated anomalies		mondoexuq1wtf										True		Orphanet:458841																		owl:Class
SNOMEDCT:154352008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8187005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80321008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246821008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14156004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269478004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31194008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70091000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98152	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402624000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1298692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718610008	biolink:NamedThing			mondoexuq1wtf																														
DOID:8500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751757	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278519005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274300	biolink:NamedThing			mondoexuq1wtf																														
DOID:5190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837915	biolink:NamedThing			mondoexuq1wtf																														
DOID:6696	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10005932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257845	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332176	biolink:NamedThing			mondoexuq1wtf																														
DOID:5718	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100996	biolink:NamedThing			mondoexuq1wtf																														
DOID:3864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:299276009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018792	biolink:NamedThing	obsolete Moyamoya syndrome		mondoexuq1wtf	rare disorder with a Moyamoya angiopathy					Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy.	MONDO:0016820			True		UMLS:CN776904|Orphanet:477771														https://github.com/monarch-initiative/mondo/issues/1767				owl:Class
NCIT:C40135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204897001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267740009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006483	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240059009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197905005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703233008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/231044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711407000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717821004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931797	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716667005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030579	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618653	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43752006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129624009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110614	biolink:NamedThing			mondoexuq1wtf																														
DOID:2975	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607473	biolink:NamedThing			mondoexuq1wtf																														
DOID:3829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839267	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115217007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014518	biolink:NamedThing			mondoexuq1wtf																														
DOID:6976	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109995007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95709	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060299	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010013	biolink:NamedThing			mondoexuq1wtf																														
DOID:3229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333956	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399352	biolink:NamedThing			mondoexuq1wtf																														
DOID:11488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163708	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155070005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536258	biolink:NamedThing			mondoexuq1wtf																														
DOID:3635	biolink:NamedThing			mondoexuq1wtf																														
DOID:9720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3640053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267554004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419455006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4501007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97232	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609268	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013706	biolink:NamedThing			mondoexuq1wtf																														
DOID:4371	biolink:NamedThing			mondoexuq1wtf																														
DOID:819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95361005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1466	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333996	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237572004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164280	biolink:NamedThing			mondoexuq1wtf																														
DOID:6934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34607	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001012	biolink:NamedThing	obsolete breast fibroadenosis		mondoexuq1wtf	fibroadenosis - breast|fibroadenosis of breast					Obsoleting because this is a phenotype.	HP:0010619			True		UMLS:C1305875|DOID:10352|COHD:75010|ICD9:610.2|ICD10:N60.2|SCTID:23260002														https://github.com/monarch-initiative/mondo/issues/429				owl:Class
SNOMEDCT:198092002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15689008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614934	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001362	biolink:NamedThing	obsolete leukocoria	An abnormal white reflection from the retina of the eye.	mondoexuq1wtf				HP:0000555		Obsoleted as it represents a feature/finding				True		DOID:11772|SCTID:1361009|UMLS:C0152458|ICD10:H44.53|ICD9:360.44|COHD:373461																		owl:Class
SNOMEDCT:1361009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703703002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95464	biolink:NamedThing			mondoexuq1wtf																														
DOID:289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:850	biolink:NamedThing			mondoexuq1wtf																														
DOID:231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419893006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76783007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8717	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267738004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617761	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563535	biolink:NamedThing			mondoexuq1wtf																														
DOID:379	biolink:NamedThing			mondoexuq1wtf																														
DOID:6195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266258005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134178004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204115008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196105001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020484	biolink:NamedThing	obsolete rare familial disorder with hypertrophic cardiomyopathy		mondoexuq1wtf	rare familial disorder with hypertrophic obstructive cardiomyopathy|rare familial disorder with hypertrophic subaortic stenosis	MONDO:outOfScope					MESH:D024741|UMLS:C0949658			True		Orphanet:99739														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:99739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724095006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206727	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604928	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617425	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615824	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4039413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:451607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405809000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193785001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62676009	biolink:NamedThing			mondoexuq1wtf																														
DOID:8283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713277006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536796	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751431	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301194	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700467001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744295	biolink:NamedThing			mondoexuq1wtf																														
DOID:14064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809278	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204768	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68566005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2695	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011662	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722955006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700061007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843898	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225449	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018514	biolink:NamedThing	obsolete rare epithelial tumor of rectum	Any of the forms of epithelial neoplasm of rectum that have a rare incidence.	mondoexuq1wtf	rare rectal epithelial tumor|rare epithelial neoplasm of rectum			MONDO:0024476						True		UMLS:CN237519|Orphanet:423998														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:423998	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7489	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:576370	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204110003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8459	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3569	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003625	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:D012851	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98944	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:707	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013291	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764518004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1963905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:451612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352582	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0450094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2855	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538336	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/82812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254938000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200936003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372103002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190957008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155501004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135221	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266176008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710067	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565551	biolink:NamedThing			mondoexuq1wtf																														
DOID:10327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266503008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150679	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007855	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1153706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220998	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154750002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010383	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227235	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715983001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267660007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931176	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93461	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2239246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275023	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235685007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413656006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78058005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019110	biolink:NamedThing	obsolete rare central nervous system or retinal vascular disease		mondoexuq1wtf				MONDO:0020676						True		UMLS:CN205621|Orphanet:71281														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/190330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94048009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334507	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43763009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038015	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859774	biolink:NamedThing			mondoexuq1wtf																														
DOID:3870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200728	biolink:NamedThing			mondoexuq1wtf																														
DOID:5213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286968003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70486007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35119	biolink:NamedThing			mondoexuq1wtf																														
DOID:4406	biolink:NamedThing			mondoexuq1wtf																														
DOID:1040	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3523	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424053	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4499	biolink:NamedThing			mondoexuq1wtf																														
DOID:11920	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23096007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154403005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5961	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332912	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536012	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020139	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2456	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197833009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3404	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:465824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718574003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718179003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3538999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163908	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27110	biolink:NamedThing			mondoexuq1wtf																														
DOID:7577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268435	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618251	biolink:NamedThing			mondoexuq1wtf																														
DOID:1260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810349	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6183	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567380	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79099	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190568004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35400008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266071000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719267003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733600007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363442002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070266	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269638002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21853005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421527008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141152	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614069	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#prototype_pattern	biolink:NamedThing			mondoexuq1wtf						Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149																								owl:AnnotationProperty
NCIT:C3997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156182009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3376	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275766	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017669	biolink:NamedThing	obsolete disease with diffuse palmoplantar keratoderma as a major feature		mondoexuq1wtf	disease with diffuse palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope					ICD10:Q82.8			True		Orphanet:307711|UMLS:CN203554														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:307711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255335004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193136002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38341003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156395005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:218728005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:87	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20824003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88594005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128750008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607417	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396072	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:558411	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446923008	biolink:NamedThing			mondoexuq1wtf																														
DOID:605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333147	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118826	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300486	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5311007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205556009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717262004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128612007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726613003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363351006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273958	biolink:NamedThing			mondoexuq1wtf																														
DOID:4393	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40156	biolink:NamedThing			mondoexuq1wtf																														
DOID:8000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27211	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536141	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009117	biolink:NamedThing	obsolete disorganization, mouse, homolog of		mondoexuq1wtf	Ds|disorganization, mouse, homolog OF									True		UMLS:C1857230|OMIM:223200																		owl:Class
http://identifiers.org/omim/223200	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015889	biolink:NamedThing	obsolete rare hypothalamic or pituitary disease		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:181384|UMLS:CN200503														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:201210008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612936	biolink:NamedThing			mondoexuq1wtf																														
DOID:10931	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111802	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015966	biolink:NamedThing	obsolete hereditary eye tumor		mondoexuq1wtf	genetic eye tumor									True		UMLS:CN200566|Orphanet:183619																		owl:Class
ORPHA:183619	biolink:NamedThing			mondoexuq1wtf																														
DOID:5733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49910001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5428	biolink:NamedThing			mondoexuq1wtf																														
DOID:5896	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52756005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615538	biolink:NamedThing			mondoexuq1wtf																														
DOID:3722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1522	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79598	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1264	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029124	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240761008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3900111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154698000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111235	biolink:NamedThing			mondoexuq1wtf																														
DOID:4932	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:323	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024373	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090141	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600883	biolink:NamedThing			mondoexuq1wtf																														
DOID:447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732245008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266584000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237894002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040961	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020027	biolink:NamedThing	obsolete rare allergic disease	Rare allergic hypersensitivity disease.	mondoexuq1wtf	rare allergic hypersensitivity disease|rare allergic disease|rare allergy			MONDO:0005271						True		Orphanet:98050|UMLS:CN206951														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:128302006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2492009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611571	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414032001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37979	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272801	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674508	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332278	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220662	biolink:NamedThing			mondoexuq1wtf																														
DOID:7050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204238	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399970005	biolink:NamedThing			mondoexuq1wtf																														
DOID:12583	biolink:NamedThing			mondoexuq1wtf																														
DOID:9598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204316004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89933001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715421009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564143	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333761	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266193008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3170006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182127	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#merged_class	biolink:NamedThing			mondoexuq1wtf						this class merges distinct concepts in other resources																								owl:AnnotationProperty
DOID:4723	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017650	biolink:NamedThing	obsolete rare myoclonus		mondoexuq1wtf				MONDO:0005395						True		UMLS:CN227170|Orphanet:306747														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:306747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280892	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5778	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863878	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3194	biolink:NamedThing			mondoexuq1wtf																														
DOID:6476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78675000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118630	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22020001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238524002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267792	biolink:NamedThing			mondoexuq1wtf																														
DOID:870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155970008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153369	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011705	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3529	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060695	biolink:NamedThing			mondoexuq1wtf																														
DOID:2906	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711483003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41237	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64981002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018721	biolink:NamedThing	obsolete rare combined vascular malformation		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN242069|Orphanet:458837														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:188310002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194478005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002983	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188150007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3493776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194278008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47107000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842643	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018235	biolink:NamedThing	obsolete dysostosis with limb anomaly as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:364568														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:105997008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72885007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601887	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015878	biolink:NamedThing	obsolete rare disease with autism		mondoexuq1wtf						This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead.				True		Orphanet:180772|UMLS:CN200486														https://github.com/monarch-initiative/mondo/issues/1766|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:371973000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0030016	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:141007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2828721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029421	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154532006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27909	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242890	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3889979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189820007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187606005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN679647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708107	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863926	biolink:NamedThing			mondoexuq1wtf																														
DOID:2231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2806	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86816	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060570	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143850	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111343	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015117	biolink:NamedThing	obsolete rare hepatic and biliary tract tumor	Any of the forms of hepatobiliary neoplasm that have a rare incidence.	mondoexuq1wtf	rare hepatobiliary neoplasm			MONDO:0002514						True		UMLS:CN197474|Orphanet:101943														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C5193134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8976003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242151	biolink:NamedThing			mondoexuq1wtf																														
DOID:1123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203397001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162651	biolink:NamedThing			mondoexuq1wtf																														
DOID:5656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3548001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837029	biolink:NamedThing			mondoexuq1wtf																														
DOID:11028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204950001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204119002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN120488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4826006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1968	biolink:NamedThing			mondoexuq1wtf																														
DOID:9935	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62067003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027537	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7095	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022885	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:231160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52675005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718614004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266489007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846576	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93404	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015875	biolink:NamedThing	obsolete rare non-malformative uterine adnexal disease		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:180303|UMLS:CN200481														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:180303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38713004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268355000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240796008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190532009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1608393	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154892001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535520	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720632004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44743006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231498003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931686	biolink:NamedThing			mondoexuq1wtf																														
DOID:1325	biolink:NamedThing			mondoexuq1wtf																														
DOID:1824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276816003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186927008	biolink:NamedThing			mondoexuq1wtf																														
DOID:10930	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853394	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192597006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195108009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77333008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200978009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014912	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186475007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154738008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8366	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015955	biolink:NamedThing	obsolete rare genetic epilepsy	A form of epilepsy that is both rare and inborn.	mondoexuq1wtf	rare genetic epilepsy			MONDO:0005027						True		Orphanet:183512|UMLS:CN226802														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:716092007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080256	biolink:NamedThing			mondoexuq1wtf																														
DOID:5517	biolink:NamedThing			mondoexuq1wtf																														
DOID:13943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032851	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111256009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254157005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409672	biolink:NamedThing			mondoexuq1wtf																														
DOID:8433	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406660	biolink:NamedThing			mondoexuq1wtf																														
DOID:1856	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307530000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25897000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618314	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000567	biolink:NamedThing			mondoexuq1wtf																														
DOID:2411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723301009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237622	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602685	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204552001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39179006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153647	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615162	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015940	biolink:NamedThing	obsolete rare rheumatologic disease	Any of the forms of rheumatologic disorder that have a rare incidence.	mondoexuq1wtf	rare rheumatological disease|rare rheumatologic disorder			MONDO:0005554						True		Orphanet:182231|UMLS:CN200530														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/medgen/60214	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015859	biolink:NamedThing	obsolete rare non-malformative uterovaginal or vulvovaginal disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200461|Orphanet:180205														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:180205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703522009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3927	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189692006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53971	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266075	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73768007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188277006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400022009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029128	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92649001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10439	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567477	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015858	biolink:NamedThing	obsolete rare non-malformative breast disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200460|Orphanet:180202														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:C0154070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295069	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155012	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613819	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699268002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80367008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266084009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336527	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090130	biolink:NamedThing			mondoexuq1wtf																														
DOID:11811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023267	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700384	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313800	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016274	biolink:NamedThing	obsolete rare cancer of cervix uteri	Rare cervical cancer.	mondoexuq1wtf	rare malignant tumor of cervix uteri|rare cervical cancer|rare cervical malignant tumor			MONDO:0002974			UMLS:C0007847|UMLS:C0302592			True		UMLS:CN201063|Orphanet:213761														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C536188	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156042	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44828002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266185008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562684	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265404	biolink:NamedThing			mondoexuq1wtf																														
DOID:13801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45198002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017141	biolink:NamedThing	obsolete hemorrhagic disorder due to a constitutional thrombocytopenia		mondoexuq1wtf	rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare bleeding disorder due to a quantitative platelet defect|rare coagulopathy due to a constitutional thrombocytopenia|rare bleeding disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect|rare coagulopathy due to a quantitative platelet defect	out of scope					MONDO:0002243			True		UMLS:CN227098|Orphanet:275729														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615270	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268328	biolink:NamedThing			mondoexuq1wtf																														
DOID:6677	biolink:NamedThing			mondoexuq1wtf																														
DOID:5477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367536002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92132009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015245	biolink:NamedThing	obsolete rare intestinal disease	Rare intestinal disease.	mondoexuq1wtf	rare intestinal disease			MONDO:0005020			UMLS:C0021831			True		Orphanet:117569														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/613722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194291009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80544005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370348	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764621006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336749	biolink:NamedThing			mondoexuq1wtf																														
DOID:8207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191835009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26174007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266174006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714509	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562438	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269491003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111840005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8191	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234541006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343375	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156348006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278713008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3669122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190960001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192682002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618010	biolink:NamedThing			mondoexuq1wtf																														
DOID:5644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363045008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192557008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443937008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206631	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84704	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C64938	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4062006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71590000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011880	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32117000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205133005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155549005	biolink:NamedThing			mondoexuq1wtf																														
DOID:14670	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044237	biolink:NamedThing	obsolete hypercholesterolemia suppressor		mondoexuq1wtf	hypercholesterolemia suppressor					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:144020																		owl:Class
http://identifiers.org/omim/144020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27037	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854925	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012218	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018032	biolink:NamedThing	obsolete constitutional neutropenia with extra-hematopoietic manifestations		mondoexuq1wtf										True		Orphanet:331184																		owl:Class
MESH:C562894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007795	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044242	biolink:NamedThing	obsolete mydriasis, congenital		mondoexuq1wtf	mydriasis, congenital					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:159420																		owl:Class
UMLS:C1303010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832812	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000857	biolink:NamedThing	obsolete Charcot-Marie-Tooth disease type 7	A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.	mondoexuq1wtf										True		DOID:0080069																		owl:Class
UMLS:C0023067	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334378	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202651004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50143004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013415	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028713	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83343001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92286008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17157001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763352005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70594002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017142	biolink:NamedThing	obsolete hemorrhagic disorder due to a qualitative platelet defect		mondoexuq1wtf	rare hemorrhagic disorder due to a qualitative platelet defect|rare bleeding disorder due to a constitutional thrombopathy|rare coagulopathy due to a constitutional thrombopathy|rare coagulopathy due to a qualitative platelet defect|rare bleeding disorder due to a qualitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombopathy	MONDO:outOfScope					ICD10:D69.8			True		Orphanet:275736|UMLS:CN227099														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:275736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86635005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27537	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55020008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267737009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204480002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715522000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44018007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016065	biolink:NamedThing			mondoexuq1wtf																														
DOID:10516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398739	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002780	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/600624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267464006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263543	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004347	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/602613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111393000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267833003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0237971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156106005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27313007	biolink:NamedThing			mondoexuq1wtf																														
DOID:14555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154776002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613179	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020013	biolink:NamedThing	obsolete rare odontologic disease		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:98026|UMLS:CN206946														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11314008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155930001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612097	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020214	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3773	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2348199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237795006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2316319	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001112	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39659	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4326	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154360009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1569	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403992002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19897006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110502	biolink:NamedThing			mondoexuq1wtf																														
DOID:7202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20343006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580280	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300887	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024248	biolink:NamedThing	obsolete pityriasis	A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)	mondoexuq1wtf	Pityriases									True		ICD9:696.5|SCTID:34630004|MESH:D010915																		owl:Class
SNOMEDCT:34630004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618330	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312132001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38842003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036969	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338597	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056732	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238468	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010995	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111280	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563206	biolink:NamedThing			mondoexuq1wtf																														
DOID:1754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9014	biolink:NamedThing			mondoexuq1wtf																														
DOID:13240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39907	biolink:NamedThing			mondoexuq1wtf																														
DOID:5016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1879718	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237957007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131573	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080587	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021214	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/157151	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:619	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62383007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70142008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197006009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015624	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420584	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021544	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0023650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157019002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152108	biolink:NamedThing			mondoexuq1wtf																														
DOID:5957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394726009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196415003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124667004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194144007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17926002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834877	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719044008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30168008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240880004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50866000	biolink:NamedThing			mondoexuq1wtf																														
DOID:474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75403004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845055	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080447	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65593009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026718	biolink:NamedThing			mondoexuq1wtf																														
DOID:3262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496833	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067407	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239920006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079153	biolink:NamedThing			mondoexuq1wtf																														
DOID:1562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154709005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66590003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111405003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862897	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266190	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230350000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14537002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342722	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3770	biolink:NamedThing			mondoexuq1wtf																														
DOID:8078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62953009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617011	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723409007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227187	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8178	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7071007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297225000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23735003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707365008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030486	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346424	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015707	biolink:NamedThing	obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies		mondoexuq1wtf		Out of scope					MONDO:0018035			True		Orphanet:169346														https://github.com/monarch-initiative/mondo/issues/3191				owl:Class
ORPHA:169346	biolink:NamedThing			mondoexuq1wtf																														
DOID:6225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266278002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398768004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6167	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444756000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015603	biolink:NamedThing	obsolete rare odontal or periodontal disorder		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:164001|UMLS:CN226712														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:164001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:162526	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265325	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432322	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:710572000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726358004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859487	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600775	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750451	biolink:NamedThing			mondoexuq1wtf																														
DOID:3156	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795849	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016507	biolink:NamedThing	obsolete rare surgically correctable form of primary aldosteronism	Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.	mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:231637|UMLS:CN226946														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226946	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018413	biolink:NamedThing	obsolete female infertility due to an anomaly of ovarian function of genetic origin		mondoexuq1wtf		MONDO:outOfScope					ICD10:N97.0			True		Orphanet:400022|UMLS:CN227356														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:765403009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2985174	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018728	biolink:NamedThing	obsolete rare genetic capillary malformation		mondoexuq1wtf				MONDO:0016231						True		Orphanet:459526|UMLS:CN242077														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN242077	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023817	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268773000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832858	biolink:NamedThing			mondoexuq1wtf																														
DOID:5223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275469001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91496	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158800	biolink:NamedThing			mondoexuq1wtf																														
DOID:13521	biolink:NamedThing			mondoexuq1wtf																														
DOID:4699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720850008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193104009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105629000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197437002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79311	biolink:NamedThing			mondoexuq1wtf																														
DOID:14172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154900000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015124	biolink:NamedThing	obsolete rare adrenal disease		mondoexuq1wtf				MONDO:0005495			UMLS:C0001621			True		Orphanet:101954														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/179800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254379	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045745	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201064004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1864	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156925007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422588002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154673001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443643007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300957	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060535	biolink:NamedThing			mondoexuq1wtf																														
DOID:7207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266648001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:467166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414795007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200302	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020182	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293848	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536570	biolink:NamedThing			mondoexuq1wtf																														
DOID:2149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155113002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57993004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193857008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92214000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201907	biolink:NamedThing			mondoexuq1wtf																														
DOID:4865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719973009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65477003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99090	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832215	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191795002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155575009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931257	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765489006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155244001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13447	biolink:NamedThing			mondoexuq1wtf																														
DOID:8394	biolink:NamedThing			mondoexuq1wtf																														
DOID:6867	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060702	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018266	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47344007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725461009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608158	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616311	biolink:NamedThing			mondoexuq1wtf																														
DOID:6705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3249	biolink:NamedThing			mondoexuq1wtf																														
DOID:6438	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100031	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016679	biolink:NamedThing	obsolete rare tumor of neuroepithelial tissue	Any of the forms of neuroepithelial neoplasm that have a rare incidence.	mondoexuq1wtf	rare neuroepithelial neoplasm			MONDO:0021193			UMLS:C0206715			True		Orphanet:251558														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:251558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9069	biolink:NamedThing			mondoexuq1wtf																														
DOID:1308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277200	biolink:NamedThing			mondoexuq1wtf																														
DOID:13561	biolink:NamedThing			mondoexuq1wtf																														
DOID:8633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750325	biolink:NamedThing			mondoexuq1wtf																														
DOID:701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888204	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40405	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227571	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035918	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480553	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5421	biolink:NamedThing			mondoexuq1wtf																														
DOID:2007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN847583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399088004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267465007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278715001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231824001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515293	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015549	biolink:NamedThing	obsolete rare genetic hematologic disease		mondoexuq1wtf				MONDO:0005570		Reason for obsoletion: we want to remove rare X terms from Mondo.				True		UMLS:CN199710|Orphanet:158300														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1748				owl:Class
MESH:C565211	biolink:NamedThing			mondoexuq1wtf																														
DOID:11149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20735004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090068	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060775	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155642009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019043	biolink:NamedThing	obsolete rare genetic skin disease		mondoexuq1wtf	rare genodermatosis			MONDO:0005093			UMLS:C0037277			True		Orphanet:68346														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C4600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676285	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001807	biolink:NamedThing	obsolete familial combined hyperlipidemia	A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1.	mondoexuq1wtf	mixed hyperlipidemia|type IIb hyperlipoproteinemia|familial combined hyperlipidemia (disorder) [ambiguous]|familial multiple lipoprotein-type hyperlipidemia|combined hyperlipoproteinemia|mixed hyperlipidaemia|mixed hyperlipoproteinemia|hyperbetalipoproteinemia with prebetalipoproteinemia|combined hyperlipidemia					Obsolete in Orphanet	MONDO:0001336			True		ICD9:272.4|ICD10:E78.4|Orphanet:79211|COHD:438720|MedDRA:10027763|ICD10:E78.2|SCTID:238040008|DOID:13809|MESH:D006950																		owl:Class
SNOMEDCT:48190005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195703007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202893001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85183	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005403	biolink:NamedThing			mondoexuq1wtf																														
DOID:8892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187708004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266189002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400827	biolink:NamedThing			mondoexuq1wtf																														
DOID:176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236970	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154582001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:904	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406425	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018880	biolink:NamedThing	obsolete rare teratologic disease		mondoexuq1wtf	acquired embryofetopathy	MONDO:outOfScope								True		Orphanet:52662|UMLS:CN205231														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN205231	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85210	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268740	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022078	biolink:NamedThing			mondoexuq1wtf																														
DOID:13140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332945	biolink:NamedThing			mondoexuq1wtf																														
DOID:1440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190828008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494439	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014245	biolink:NamedThing			mondoexuq1wtf																														
DOID:5155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202894007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186242002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562377	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051260	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188746008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41009006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81854007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193637007	biolink:NamedThing			mondoexuq1wtf																														
DOID:11813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808800	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001679	biolink:NamedThing	obsolete crater-like holes of optic disc		mondoexuq1wtf	crater-like optic disc holes					Obsolete as represents a phenotypic feature/finding (todo: add to HPO)				True		ICD9:377.22|DOID:13295																		owl:Class
SNOMEDCT:19148004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128663007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98582	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85025	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110143	biolink:NamedThing			mondoexuq1wtf																														
DOID:4994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286989007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610102	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010272	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018290	biolink:NamedThing			mondoexuq1wtf																														
DOID:7996	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537763	biolink:NamedThing			mondoexuq1wtf																														
DOID:3068	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007602	biolink:NamedThing	obsolete favism, susceptibility to		mondoexuq1wtf	favism, susceptibility to|moved to {300908}						MONDO:0010480			True		OMIM:134700																		owl:Class
DOID:0070073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189342001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191333009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841654	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:593	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859978	biolink:NamedThing			mondoexuq1wtf																														
DOID:14199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66629	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015946	biolink:NamedThing	obsolete rare genetic epidermal disorder		mondoexuq1wtf	genetic epidermal disorder			MONDO:0000001						True		UMLS:CN200542|Orphanet:183426														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200542	biolink:NamedThing			mondoexuq1wtf																														
DOID:2788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225330	biolink:NamedThing			mondoexuq1wtf																														
DOID:7168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968746	biolink:NamedThing			mondoexuq1wtf																														
DOID:12679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843477	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26721	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158775	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280406	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028655	biolink:NamedThing			mondoexuq1wtf																														
DOID:6171	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154959	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537413	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733064004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54570006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7707	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62545	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022890	biolink:NamedThing			mondoexuq1wtf																														
DOID:5532	biolink:NamedThing			mondoexuq1wtf																														
DOID:14525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35742006	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#historic_epidemic	biolink:NamedThing			mondoexuq1wtf						classes representing a historic epidemic																								owl:AnnotationProperty
NCIT:C50575	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193154003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616817	biolink:NamedThing			mondoexuq1wtf																														
DOID:1699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715724002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796122	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537880	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2156	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239192	biolink:NamedThing			mondoexuq1wtf																														
DOID:2235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416500007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536836	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128230	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263800	biolink:NamedThing			mondoexuq1wtf																														
DOID:13121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448709005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844017	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72366004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086588	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300228	biolink:NamedThing			mondoexuq1wtf																														
DOID:9352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110836	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537636	biolink:NamedThing			mondoexuq1wtf																														
DOID:7634	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21764004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1876	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931634	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110713	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59135	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016228	biolink:NamedThing	obsolete rare vascular tumor	Any of the forms of vascular neoplasm that have a rare incidence.	mondoexuq1wtf	rare vascular neoplasm			MONDO:0024296		TODO revise after https://github.com/Orphanet/ORDO/issues/2	UMLS:C0282607			True		Orphanet:211237														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:189197001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280133	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99861	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936791	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007678	biolink:NamedThing	obsolete glycoprotein, renal		mondoexuq1wtf	glycoprotein, renal					This is an electrophetic finding and not a disease.				True		OMIM:138710														https://github.com/monarch-initiative/mondo/issues/2245				owl:Class
UMLS:C1841864	biolink:NamedThing			mondoexuq1wtf																														
DOID:2277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151351	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020185	biolink:NamedThing	obsolete eyebrow/eyelashes hypertrichosis		mondoexuq1wtf										True		ICD10:L68.2|Orphanet:98595														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
SNOMEDCT:196334004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28914006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0940607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205788004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861129	biolink:NamedThing			mondoexuq1wtf																														
DOID:3260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79147	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2909036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128098009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535679	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72621000119104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203897	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155000006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5388008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289846	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833577	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009995	biolink:NamedThing	obsolete rheumatic fever-related antigen		mondoexuq1wtf	rheumatic fever, acute, susceptibility to|rheumatic fever-related antigen						MONDO:0017767			True		OMIM:268240																		owl:Class
UMLS:C1849384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:473418001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254653005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11853	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023884	biolink:NamedThing			mondoexuq1wtf																														
DOID:7236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201672003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193536008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703369003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228423	biolink:NamedThing			mondoexuq1wtf																														
DOID:2121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65547006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748898	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93672006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721879006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854914	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187126008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23014006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27641	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018294	biolink:NamedThing	obsolete congenital disorder of glycosylation with nephropathy as a major feature		mondoexuq1wtf	CDG with nephropathy as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371207														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:C0015503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90118	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199267	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601927	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C162484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202166	biolink:NamedThing			mondoexuq1wtf																														
DOID:9230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249670	biolink:NamedThing			mondoexuq1wtf																														
DOID:4752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154812000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268632008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3537440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267714003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206659	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37702000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56265001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810147	biolink:NamedThing			mondoexuq1wtf																														
MESH:D022861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24704003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255181009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2829265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848680	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564332	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47000000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020221	biolink:NamedThing	obsolete secondary glaucoma due to a proliferation and differentiation anomaly		mondoexuq1wtf										True		Orphanet:98637																		owl:Class
UMLS:C1333820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93758009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191236003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1827	biolink:NamedThing			mondoexuq1wtf																														
DOID:4294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37785001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613837	biolink:NamedThing			mondoexuq1wtf																														
DOID:7148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008523	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878680	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87040007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128202008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2881	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6685	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716192009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715822007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:290836	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C174129	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285311001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001353	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156914003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255110003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99088	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060684	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155081008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329457	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010291	biolink:NamedThing	obsolete androgen insensitivity syndrome due to coactivator deficiency		mondoexuq1wtf	androgen insensitivity syndrome due to coactivator deficiency			MONDO:0019154						True																				owl:Class
UMLS:C1846032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332196	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034561	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441313008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245550	biolink:NamedThing			mondoexuq1wtf																														
DOID:8849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0563212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154699008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716999001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000800	biolink:NamedThing	obsolete brown shrimp allergy	A allergic disease involving a brown shrimp.	mondoexuq1wtf	Farfantepenaeus aztecus allergy|brown shrimp allergic disease|allergy of brown shrimp	MONDO:outOfScope								True		DOID:0060525														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614936	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268875000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54856001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615485	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2239176	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186905004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN860323	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118784	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720408003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616325	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849227	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018928	biolink:NamedThing	obsolete rare hepatic disease	Rare liver disease.	mondoexuq1wtf	rare liver disease			MONDO:0005154						True		Orphanet:57146|UMLS:CN205315														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1513025	biolink:NamedThing			mondoexuq1wtf																														
DOID:12175	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567040	biolink:NamedThing			mondoexuq1wtf																														
DOID:8432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719597005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3210	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340485	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000037	biolink:NamedThing			mondoexuq1wtf																														
DOID:1156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190004005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613729	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015910	biolink:NamedThing	obsolete rare constitutional hemolytic anemia		mondoexuq1wtf	rare familial constitutional hemolytic anemia|rare genetic constitutional hemolytic anemia			MONDO:0003664		Editor note: todo add disjointness axiom https://github.com/monarch-initiative/mondo/issues/133				True		Orphanet:182043|UMLS:CN226786														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308473	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020251	biolink:NamedThing	obsolete rare strabismus and restriction syndrome		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:98681|UMLS:CN207070														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0110995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189563000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318550	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004761	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610478	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751294	biolink:NamedThing			mondoexuq1wtf																														
DOID:9282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248315	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675459	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66214007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188553001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809337	biolink:NamedThing			mondoexuq1wtf																														
DOID:11245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751587	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93859007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557820	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156893009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284460	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197793002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188653005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038160	biolink:NamedThing			mondoexuq1wtf																														
DOID:3329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373627005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837479	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97164	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153219	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537934	biolink:NamedThing			mondoexuq1wtf																														
DOID:11031	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537554	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99069	biolink:NamedThing			mondoexuq1wtf																														
DOID:13087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45534005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191705007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206143	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007291	biolink:NamedThing	obsolete familial cerebral cavernous malformation		mondoexuq1wtf				MONDO:0031037						True																https://github.com/monarch-initiative/mondo/issues/2940				owl:Class
IAO:0000229	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266190006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079957	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006468	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5548	biolink:NamedThing			mondoexuq1wtf																														
DOID:6322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26125006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93813005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154999006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60255003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39662004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84209002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253153000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0233795	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610444	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2955	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:712	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268196005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95769009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615356	biolink:NamedThing			mondoexuq1wtf																														
DOID:9446	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192761004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611046	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4746975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95413004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:561	biolink:NamedThing			mondoexuq1wtf																														
DOID:4550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855499	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198996001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027773	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020708	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012448	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015916	biolink:NamedThing	obsolete rare neuroinflammatory or neuroimmunological disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200514|Orphanet:182064														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
http://identifiers.org/omim/617780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156421006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77971008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231828003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95834	biolink:NamedThing			mondoexuq1wtf																														
DOID:8003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82401000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850930	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538016	biolink:NamedThing			mondoexuq1wtf																														
DOID:8031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307576001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538317	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702978006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806403	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109570002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4765	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155444003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345978	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190749000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037856	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563672	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008230	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613071	biolink:NamedThing			mondoexuq1wtf																														
DOID:13195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:918	biolink:NamedThing			mondoexuq1wtf																														
DOID:533	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:556985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267860005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702428000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:566243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339527	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566619	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111619	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42376006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764105002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839874	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187888005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91859000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717049005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060778	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2796	biolink:NamedThing			mondoexuq1wtf																														
DOID:13788	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050882	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060281	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019047	biolink:NamedThing	obsolete rare deafness	Any of the forms of hearing loss that have a rare incidence.	mondoexuq1wtf	complete deafness|total deafness|rare hearing loss			MONDO:0005365			UMLS:C0581883|UMLS:C3711374			True		UMLS:CN227564|NCIT:C36194|Orphanet:68361														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432227	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766252004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266176	biolink:NamedThing			mondoexuq1wtf																														
DOID:3070	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032266	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56576003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230746009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5724	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563293	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5602001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602107	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5933	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039603	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20719006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253137003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84162001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:225723003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266222003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266399001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267473003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:104431000119107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719814009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155160005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156881000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406443	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015125	biolink:NamedThing	obsolete rare thyroid disease	Rare thyroid disease.	mondoexuq1wtf	rare thyroid disease|rare thyroid gland disease			MONDO:0003240			UMLS:C0040128			True		Orphanet:101955														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:101955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275088	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535784	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40191005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272348	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044258	biolink:NamedThing	obsolete methane production		mondoexuq1wtf	methane production					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:250650																		owl:Class
http://identifiers.org/omim/250650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279974	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060423	biolink:NamedThing			mondoexuq1wtf																														
DOID:8007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154730001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192444003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721847002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279708	biolink:NamedThing			mondoexuq1wtf																														
DOID:14515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850745	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189870005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40283005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254062008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398565003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609221008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376685	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86781004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27955006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55353007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34898	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269203	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015868	biolink:NamedThing	obsolete rare breast tumor	Any of the forms of breast neoplasm that have a rare incidence.	mondoexuq1wtf	rare breast neoplasm|rare breast cancer			MONDO:0021100			UMLS:C1458155			True		Orphanet:180250														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:4411	biolink:NamedThing			mondoexuq1wtf																														
DOID:10941	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717792007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609517002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253899000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342345	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193589009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020032	biolink:NamedThing	obsolete rare urinary tract tumor	Rare urinary system benign neoplasm.	mondoexuq1wtf	rare urinary tract cancer|rare urinary system neoplasm|rare urinary tract neoplasm			MONDO:0021066		Editor note: ORDO considers this benign but there are rare urinary tract tumors that are non-benign	UMLS:C0751571|UMLS:C0042076			True		Orphanet:98058|UMLS:CN206957														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197375001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564694	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22687000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D00007727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46627006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74944002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042995	biolink:NamedThing			mondoexuq1wtf																														
DOID:4920	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205539001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3778	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238459	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225239	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196126001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:433493000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201195008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:103672009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21396005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186643004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2898300013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725393000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:608817003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836010	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020009	biolink:NamedThing	obsolete rare neurologic disease	Rare nervous system disease.	mondoexuq1wtf	rare nervous system disorder|rare nervous system disease			MONDO:0005071						True		Orphanet:98006|UMLS:CN206943														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090126	biolink:NamedThing			mondoexuq1wtf																														
DOID:10568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115221000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565373	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565057	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67895005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472777	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060880	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050744	biolink:NamedThing			mondoexuq1wtf																														
DOID:6969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1744708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284	biolink:NamedThing			mondoexuq1wtf																														
DOID:2132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40165	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279706	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015226	biolink:NamedThing	obsolete syndrome with limb malformations as a major feature		mondoexuq1wtf		MONDO:outOfScope					ICD10:Q87.2			True		UMLS:CN197565|Orphanet:109009														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
DOID:0070191	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91489000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201889	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254084008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155428007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34379	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367328005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86295000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0394005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92220004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190502001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93726004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197830007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248780	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95719	biolink:NamedThing			mondoexuq1wtf																														
DOID:14175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834372	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537169	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008331	biolink:NamedThing	obsolete pseudopapilledema	Apparent optic disc swelling in the absence of increased intracranial pressure.	mondoexuq1wtf	pseudopapilledema|obsolete pseudopapilledema (disease)|crowded optic disc		obsolete pseudopapilledema (disease)			This is a phenotypic feature and belongs in HPO.	HP:0000538			True		SCTID:57138009|COHD:436702|DOID:1392|MESH:C562401|OMIM:177800|Orphanet:519339|UMLS:C0155300|ICD9:377.24														https://github.com/monarch-initiative/mondo/issues/381				owl:Class
MESH:C562401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267187	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723555007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019602	biolink:NamedThing	obsolete other inborn metabolic disease		mondoexuq1wtf	other metabolic disease	MONDO:outOfScope								True		Orphanet:91088|UMLS:CN206450														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:35062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186105003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:27	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221036	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2919945	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310701	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:188	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536231	biolink:NamedThing			mondoexuq1wtf																														
DOID:799	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454887	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60380001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126693009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206920	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021256	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:C565209	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863203	biolink:NamedThing			mondoexuq1wtf																														
DOID:3352	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398021003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34513	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155691	biolink:NamedThing			mondoexuq1wtf																														
DOID:2996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112155	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189913004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35923002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43248007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155805	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601198	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156821002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193793001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719451006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110852	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40435	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266224002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53061005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7739	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536326	biolink:NamedThing			mondoexuq1wtf																														
DOID:5732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848813	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020188	biolink:NamedThing	obsolete congenital absence of the eyebrow/eyelashes		mondoexuq1wtf							HP:0000653|HP:0002223			True		Orphanet:98598														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
SNOMEDCT:287005009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496689	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93718007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D023961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1679	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566038	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190802005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206338004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1691013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0544855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40159009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334615	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015615	biolink:NamedThing	obsolete rare genetic gastroenterological disease		mondoexuq1wtf	rare genetic gastrointestinal system disease			MONDO:0004335						True		UMLS:CN199991|Orphanet:165652														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:715364001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1264039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25668000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254976006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/419036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269604005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301317008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726340005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79476	biolink:NamedThing			mondoexuq1wtf																														
DOID:5511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189339007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36086	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044266	biolink:NamedThing	obsolete xm system	Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage.	mondoexuq1wtf	XM system					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:12813																		owl:Class
UMLS:C1839088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76219003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763376002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015190	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#harrisons_view	biolink:NamedThing			mondoexuq1wtf						harrisons_view																								owl:AnnotationProperty
UMLS:C1136033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474820	biolink:NamedThing			mondoexuq1wtf																														
DOID:1201	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154375001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1314968	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205524002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200394	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265311	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204438001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191391008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213615	biolink:NamedThing			mondoexuq1wtf																														
DOID:11685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81285006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190689001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615065	biolink:NamedThing			mondoexuq1wtf																														
DOID:9088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267683005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718175009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716379000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931194	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110765	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82852009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:631	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0027416	biolink:NamedThing	obsolete retinal cone dystrophy 2		mondoexuq1wtf	RCD2|Progressive cone degeneration|Cone dystrophy progressive			MONDO:0011143						True		GARD:0010117																		owl:Class
http://identifiers.org/omim/601251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225710	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93914000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085750	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008761	biolink:NamedThing	obsolete alpha-2-deficient collagen disease		mondoexuq1wtf	alpha-2-deficient collagen disease|Meigel disease					This term was retired in GARD because was based in a single report in 1979 about a boy who could have another diagnosis.				True		MESH:C565963|GARD:0000616|GARD:0003454|OMIM:203760|UMLS:C1859850														https://github.com/monarch-initiative/mondo/issues/1594				owl:Class
http://identifiers.org/omim/203760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35338	biolink:NamedThing			mondoexuq1wtf																														
DOID:3698	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3565	biolink:NamedThing			mondoexuq1wtf																														
DOID:6256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187078008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14560005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102448004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126328	biolink:NamedThing			mondoexuq1wtf																														
DOID:2571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157020008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408669002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289899	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72889001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36499	biolink:NamedThing			mondoexuq1wtf																														
DOID:8503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363387004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN580792	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808988	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152192	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015963	biolink:NamedThing	obsolete inherited renal tumor		mondoexuq1wtf	genetic renal tumor									True		Orphanet:183595|UMLS:CN200562																		owl:Class
ORPHA:183595	biolink:NamedThing			mondoexuq1wtf																														
DOID:3692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1959626	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8408	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:478049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266379007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154640008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4847	biolink:NamedThing			mondoexuq1wtf																														
DOID:7984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:282166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93964007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154017	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005332	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0268186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318973	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072229	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72470008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535837	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3899657	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709570	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192890000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535769	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186715004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557819	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616084	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:472827002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866959	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090048	biolink:NamedThing			mondoexuq1wtf																														
DOID:8336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237983002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254753004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856797	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201794001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538019	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055534	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267483004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236409	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16566002	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_clinical_syndrome	biolink:NamedThing			mondoexuq1wtf						clinical syndrome																								owl:AnnotationProperty
http://identifiers.org/omim/601455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396334002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723976005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010086	biolink:NamedThing	obsolete sudden infant death syndrome	Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource.	mondoexuq1wtf	Sids|sudden infant death syndrome (context-dependent category)|sudden death of nonspecific cause in infancy|sudden infant death syndrome NOS (context-dependent category)|sudden infant death syndrome|Crib death (context-dependent category)|cot death (context-dependent category)|crib death|cot death|SIDS|sudden infant death syndrome (finding)					This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown.				True		ICD10:R95|GARD:0007711|NCIT:C85173|DOID:9007|EFO:0005303|MESH:D013398|SCTID:51178009|UMLS:C0038644|COHD:435937|OMIM:272120|MedDRA:10042439|ICD9:798.0														https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome|https://github.com/monarch-initiative/mondo/issues/2759				owl:Class
http://identifiers.org/omim/272120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217085	biolink:NamedThing			mondoexuq1wtf																														
DOID:396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399103	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026470	biolink:NamedThing			mondoexuq1wtf																														
DOID:14448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C141441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189992008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35372	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268613002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566624	biolink:NamedThing			mondoexuq1wtf																														
DOID:6721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94096009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5562006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198197006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1803	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291329	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84699	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565764	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393555	biolink:NamedThing			mondoexuq1wtf																														
DOID:10604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129068	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015968	biolink:NamedThing	obsolete rare genetic hypothalamic or pituitary disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200567|Orphanet:183628														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:169085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151138	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336890	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0582885	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196626000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189566008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310636	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206746	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156338009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703543005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155085004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74474003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80734006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153368	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015147	biolink:NamedThing	obsolete other syndrome with lissencephaly as a major feature		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging	ICD10:Q04.3			True		UMLS:CN197489|Orphanet:102010														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN197489	biolink:NamedThing			mondoexuq1wtf																														
DOID:1399	biolink:NamedThing			mondoexuq1wtf																														
DOID:5726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002891	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392704	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110667	biolink:NamedThing			mondoexuq1wtf																														
DOID:2614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200919006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000991	biolink:NamedThing	obsolete left bundle branch block	A bundle branch block in which the activation of the left ventricle is delayed.	mondoexuq1wtf	left bundle branch hemiblock|left bundle branch [block] or [hemiblock]						HP:0011713			True		DOID:10272|ICD10:I44.60|UMLS:C0155702|SCTID:4973001|SCTID:63467002|COHD:313209|ICD9:426.2														https://github.com/monarch-initiative/mondo/issues/2536				owl:Class
SNOMEDCT:195045000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57414003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189855009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015122	biolink:NamedThing	obsolete rare diabetes mellitus	Rare diabetes mellitus.	mondoexuq1wtf	rare diabetes mellitus (disease)|rare diabetes mellitus			MONDO:0005015			UMLS:C0011860|UMLS:C0011849			True		Orphanet:101952|UMLS:CN226600														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190019006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234148007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001023	biolink:NamedThing			mondoexuq1wtf																														
DOID:6827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266395007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4746984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154947	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111601	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99082	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537209	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189282005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359804008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155832005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36454001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233913007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751690	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11244009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334453	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234437005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4985009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118786	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155236001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4106009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866352	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017637	biolink:NamedThing	obsolete rare parkinsonian syndrome due to intoxication		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN203533|Orphanet:306679														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN203533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30128009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070210	biolink:NamedThing			mondoexuq1wtf																														
DOID:1522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:298382003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D042101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87343002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2064434	biolink:NamedThing			mondoexuq1wtf																														
DOID:8781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2908	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4594	biolink:NamedThing			mondoexuq1wtf																														
DOID:9059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766813000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776824	biolink:NamedThing			mondoexuq1wtf																														
DOID:10079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509831	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92260003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207093	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060865	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413924001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47839005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280321	biolink:NamedThing			mondoexuq1wtf																														
DOID:6017	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:235936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112677002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118835	biolink:NamedThing			mondoexuq1wtf																														
DOID:14451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231130	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153613	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716278005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6996	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309256	biolink:NamedThing			mondoexuq1wtf																														
DOID:8362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189765009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269150	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837974	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46922002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68356	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614173	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186428007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23697004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198979002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154713003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78548001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75809006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266223008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618847	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151400	biolink:NamedThing			mondoexuq1wtf																														
DOID:11424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332232	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846990	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28183005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766238001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931622	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87979003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126881002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190394009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237934001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295105	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339946	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111121	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015936	biolink:NamedThing	obsolete rare tumor of endocrine glands	A rare tumor that involves the endocrine gland.	mondoexuq1wtf	endocrine gland rare tumor|tumor of endocrine glands			MONDO:0002082			UMLS:C0014132|MedDRA:10061121			True		Orphanet:182130														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:719159004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268732001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371197005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79948	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:385627004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204118005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67312003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748678	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:626004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060735	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0858252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204197004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565145	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3145	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717790004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84568007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848979	biolink:NamedThing			mondoexuq1wtf																														
DOID:6000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3697982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265633	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015652	biolink:NamedThing			mondoexuq1wtf																														
DOID:5627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192431008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118286007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044284	biolink:NamedThing	obsolete blood group, gerbich system	The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}).	mondoexuq1wtf	Gerbich blood Group system|blood group, Gerbich system|GE					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:616089																		owl:Class
UMLS:C1292300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4272579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403434	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016637	biolink:NamedThing	obsolete thrombotic disorder due to an acquired platelet anomaly		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:248404|UMLS:CN226987														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:2335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764957003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2524	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609955	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795842	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702350003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018319	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044240	biolink:NamedThing	obsolete musical perfect pitch	Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}).	mondoexuq1wtf	absolute pitch|musical perfect pitch					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:159300																		owl:Class
http://identifiers.org/omim/159300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733195008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3669395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1352	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118613001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8295	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070031	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004679	biolink:NamedThing			mondoexuq1wtf																														
DOID:4326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26823	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1919	biolink:NamedThing			mondoexuq1wtf																														
DOID:14239	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058951	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85995004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4330531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3110	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310774	biolink:NamedThing			mondoexuq1wtf																														
DOID:14489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129620000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764452004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201597006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48449	biolink:NamedThing			mondoexuq1wtf																														
DOID:1425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609817	biolink:NamedThing			mondoexuq1wtf																														
DOID:10352	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5649	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15471000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152998	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199343	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060155	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020758	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110154	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:279425004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155074	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0012140	biolink:NamedThing	obsolete pulmonary function		mondoexuq1wtf	pulmonary function|Plf|lung function, accelerated rate of decline In, smoking-related									True		OMIM:608852																		owl:Class
UMLS:C3160731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254092004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77455004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020190	biolink:NamedThing	obsolete eyebrow/eyelashes distichiasis		mondoexuq1wtf							HP:0009743			True		Orphanet:98600														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
DOID:0110291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90505000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268027006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154660000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329303	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30649006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10705005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018041	biolink:NamedThing	obsolete other immunodeficiency syndrome with predominantly antibody defects		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging	ICD10:D80.8			True		UMLS:CN204282|Orphanet:331244														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN204282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715418007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0455717	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99086	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019847	biolink:NamedThing	obsolete congenital adrenal hypoplasia of maternal cause		mondoexuq1wtf						Deprecated in Orphanet.	MONDO:0010264			True		Orphanet:95701|ICD10:E27.1																		owl:Class
ORPHA:95701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0545044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22500005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55921005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611382	biolink:NamedThing			mondoexuq1wtf																														
DOID:10944	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54572003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536323	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618674	biolink:NamedThing			mondoexuq1wtf																														
DOID:3282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55855009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060859	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156550	biolink:NamedThing			mondoexuq1wtf																														
DOID:576	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716788007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154467008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000292	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565343	biolink:NamedThing			mondoexuq1wtf																														
DOID:5724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186998006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180129	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5239005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201197000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34790	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155885003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188173004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723306004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201623005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206525	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015506	biolink:NamedThing	obsolete rare syndrome with cardiac malformations		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN199638|Orphanet:156532														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:85317	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397828008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261534	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134214003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833429	biolink:NamedThing			mondoexuq1wtf																														
DOID:3457	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029444	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017671	biolink:NamedThing	obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature		mondoexuq1wtf	autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope					ICD10:Q82.8			True		Orphanet:307804|UMLS:CN203557														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:307804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25762009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765484001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280921	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267435002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154422001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11251000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722114007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715735007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198250000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267753007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614519	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070291	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110849	biolink:NamedThing			mondoexuq1wtf																														
DOID:10399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110874	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016767	biolink:NamedThing	obsolete cutaneous lichen planus		mondoexuq1wtf	rare cutaneous LP|rare cutaneous lichen planus	out of scope					MONDO:0006572			True		ICD10:L43.8|ICD10:L43.1|ICD10:L66.1|ICD10:L43.3|ICD10:L43.9|Orphanet:254370|UMLS:CN226995|ICD10:L43.2|ICD10:L43.0														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:10030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111072	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39423001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810285	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720602007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030807	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845567	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835437	biolink:NamedThing			mondoexuq1wtf																														
DOID:13934	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319171	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152163	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4722277	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018377	biolink:NamedThing	obsolete rare hereditary disease with avascular necrosis		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:399185|UMLS:CN205038														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN205038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284362	biolink:NamedThing			mondoexuq1wtf																														
DOID:2596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73594001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6443	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73132005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563982	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187058000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156099007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611493	biolink:NamedThing			mondoexuq1wtf																														
DOID:10646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4730	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016736	biolink:NamedThing			mondoexuq1wtf																														
DOID:271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515282	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38353004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155018009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85198	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068968	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134156006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84567	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3114	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1664005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:107561000119107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193766004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24360007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715819005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67782005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187963003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015710	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26866	biolink:NamedThing			mondoexuq1wtf																														
DOID:2696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267433009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3073006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128213006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027710	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0041440	biolink:NamedThing	obsolete functional visual loss		mondoexuq1wtf	nonphysiologic vision loss|functional visual loss|nonphysiologic acuity loss									True		SCTID:313165001|UMLS:C0730512																		owl:Class
SNOMEDCT:313165001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611876	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202297005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155074001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36753006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10301003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236529001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015106	biolink:NamedThing	obsolete rare urogenital disease		mondoexuq1wtf				MONDO:0000001						True		Orphanet:101433|UMLS:CN197464														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:101433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101944	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332259	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447137005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266205000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67761004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196074004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3107	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345981	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721233005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614852	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26424001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399971009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266111	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33314	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060605	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271427009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251060004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029459	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0014188	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:196609006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153553	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019996	biolink:NamedThing	obsolete rare cardiac disease	Rare heart disease.	mondoexuq1wtf	rare heart disease			MONDO:0005267						True		Orphanet:97929|UMLS:CN206932														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:97929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424010	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268000007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021853	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008697	biolink:NamedThing	obsolete acetophenetidin sensitivity		mondoexuq1wtf	Acetophenetidin sensitivity									True		OMIM:200300																		owl:Class
http://identifiers.org/omim/200300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66347000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266497000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24129002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27235	biolink:NamedThing			mondoexuq1wtf																														
DOID:7827	biolink:NamedThing			mondoexuq1wtf																														
DOID:11772	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155673008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71444005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21615003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202851002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41529000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268091003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24250001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154374002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94126000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255102004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177850	biolink:NamedThing			mondoexuq1wtf																														
DOID:3145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0577625	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517538	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396331005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613834	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3351	biolink:NamedThing			mondoexuq1wtf																														
DOID:5082	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL343552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150603	biolink:NamedThing			mondoexuq1wtf																														
DOID:13864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266539002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155680005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724575009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053242	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009404	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191781000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432201	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015560	biolink:NamedThing	obsolete classic mast cell leukemia		mondoexuq1wtf						obsoleted in Orphanet	MONDO:0020334			True		Orphanet:158796|ICD10:C94.3														https://github.com/monarch-initiative/mondo/issues/2137				owl:Class
ORPHA:158796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203795006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156037007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71072006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416483009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110469	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308410	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017542	biolink:NamedThing	obsolete central polydactyly of toes, bilateral		mondoexuq1wtf	mirror foot, bilateral|mesoaxial polydactyly of toes, bilateral					Obsolete in Orphanet	MONDO:0011348			True		ICD10:Q69.2|Orphanet:295185																		owl:Class
ORPHA:295185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553549	biolink:NamedThing			mondoexuq1wtf																														
DOID:5288	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711156009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231477003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154789008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432228	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1122	biolink:NamedThing			mondoexuq1wtf																														
DOID:3138	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31291009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554224	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402425006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022081	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277644009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238062	biolink:NamedThing			mondoexuq1wtf																														
DOID:8400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37612	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019291	biolink:NamedThing	obsolete rare genetic dermis disorder		mondoexuq1wtf	dermis disorder			MONDO:0021154						True		UMLS:CN227615|Orphanet:79377														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0221032	biolink:NamedThing			mondoexuq1wtf																														
DOID:3607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763683004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139564	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155748004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930955	biolink:NamedThing			mondoexuq1wtf																														
DOID:1935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733029008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155880008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128235	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536824	biolink:NamedThing			mondoexuq1wtf																														
DOID:4916	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195864007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266649009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535381	biolink:NamedThing			mondoexuq1wtf																														
DOID:4203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837422	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255045009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084712	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002891	biolink:NamedThing	obsolete gastrointestinal neuroendocrine benign tumor		mondoexuq1wtf						Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT				True		DOID:4148																		owl:Class
UMLS:C0543800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198192000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16535008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155881007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211400	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019748	biolink:NamedThing	obsolete rare cause of hypertension		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:93618|UMLS:CN227685														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:C2936904	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182410	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195786002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868632	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:143932000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304715	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1804	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1443228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421731000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186599009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763373005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78576009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415091	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110308	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268778009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194109005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0728951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835819	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054178	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44875002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10438002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254079002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158321001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274897005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0542564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154835	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155802002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448254007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719162001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443192	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4483	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156015000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85217	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700345	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019339	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361133006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404171008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268359006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18193002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11343	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719400000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66270006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852242	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717257000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C110940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4598005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856399	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253828000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607688	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128703004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278525009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601072	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050864	biolink:NamedThing			mondoexuq1wtf																														
DOID:6569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031149	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034183	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96164	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304915	biolink:NamedThing			mondoexuq1wtf																														
DOID:4033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404024000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618435	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1736154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294994	biolink:NamedThing			mondoexuq1wtf																														
DOID:1023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44808001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079757	biolink:NamedThing			mondoexuq1wtf																														
DOID:936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860237	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024253	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C150369	biolink:NamedThing			mondoexuq1wtf																														
DOID:6998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347856	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2856	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852160	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267442002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153360	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175100	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017660	biolink:NamedThing	obsolete rare genetic parkinsonian disorder		mondoexuq1wtf	rare genetic hypokinetic movement disorder			MONDO:0021095						True		UMLS:CN227172|Orphanet:307052														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610753	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96160	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029412	biolink:NamedThing			mondoexuq1wtf																														
DOID:3165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56422000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42717009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766824003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205131007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192434000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4287997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188311003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42982001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4409	biolink:NamedThing			mondoexuq1wtf																														
DOID:5574	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN671932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265295	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226018	biolink:NamedThing			mondoexuq1wtf																														
DOID:9360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98685	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015957	biolink:NamedThing	obsolete rare genetic movement disorder	Rare genetic movement disorder.	mondoexuq1wtf	rare genetic movement disorder			MONDO:0005395						True		Orphanet:183521|UMLS:CN226803														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81407003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48796009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537795	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196184000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563344	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019965	biolink:NamedThing	obsolete rare benign ovarian tumor	Any of the forms of ovarian benign neoplasm that have a rare incidence.	mondoexuq1wtf	rare ovarian benign neoplasm			MONDO:0000646			UMLS:C0004997			True		Orphanet:97293														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:238898001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080441	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536130	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002497	biolink:NamedThing	obsolete food allergy	Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.	mondoexuq1wtf	food material allergic disease|allergic disease from food material|food hypersensitivity|allergy of food material	MONDO:outOfScope					SCTID:157801005|SCTID:213018006|UMLS:C0016470|SCTID:52332009|ICD9:995.3			True		SCTID:414285001|DOID:3044|COHD:4188027|EFO:1001890|MESH:D005512														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
SNOMEDCT:414285001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239891002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27106	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280674	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111354	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709490002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111398	biolink:NamedThing			mondoexuq1wtf																														
DOID:7211	biolink:NamedThing			mondoexuq1wtf																														
DOID:12711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766032007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600329	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189195009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110679	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020094	biolink:NamedThing	obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature.	mondoexuq1wtf	disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant|autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope					ICD10:Q82.8			True		UMLS:CN206998|Orphanet:98352														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:98352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118615008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1826	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268356004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190776000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:400022	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044279	biolink:NamedThing	obsolete bone mineral density quantitative trait locus 15		mondoexuq1wtf	compression fracture, susceptibility to|osteoporosis, susceptibility to|bone mineral density quantitative trait locus 15|BMND15|metaphyseal fracture, susceptibility to					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:613418																		owl:Class
UMLS:C3150680	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066795	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015715	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301086002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187658004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11380006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60318001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931651	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34817	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58275005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537324	biolink:NamedThing			mondoexuq1wtf																														
DOID:5763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251730004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30041005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020095	biolink:NamedThing	obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature.	mondoexuq1wtf	autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant|autosomal dominant disease with focal palmoplantar keratoderma as a major feature	MONDO:outOfScope					ICD10:Q82.8			True		UMLS:CN206999|Orphanet:98353														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
NCIT:C26736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936879	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261102	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535722	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110868	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263630	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021668	biolink:NamedThing	obsolete disorder involving pain		mondoexuq1wtf	pain disorder	out of scope		MONDO:0700057						True		UMLS:C1300028|DOID:0060164|SCTID:373673007														https://github.com/monarch-initiative/mondo/issues/3163				owl:Class
SNOMEDCT:373673007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189934006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400952003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128392	biolink:NamedThing			mondoexuq1wtf																														
DOID:4289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16757004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206879	biolink:NamedThing			mondoexuq1wtf																														
DOID:1928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197844001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023601	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280011	biolink:NamedThing			mondoexuq1wtf																														
DOID:3750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716685003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186500003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189908003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191864000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68870007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931338	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80258006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403818	biolink:NamedThing			mondoexuq1wtf																														
DOID:823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279613	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71021002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190232008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128922003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155905004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191386007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78267003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3896673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186929006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562664	biolink:NamedThing			mondoexuq1wtf																														
DOID:502	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168600	biolink:NamedThing			mondoexuq1wtf																														
DOID:12337	biolink:NamedThing			mondoexuq1wtf																														
DOID:3704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609565001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019657	biolink:NamedThing	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0019006			True		Orphanet:93221|ICD10:N04.0|UMLS:CN206530																		owl:Class
UMLS:CN206530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51178009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6381	biolink:NamedThing			mondoexuq1wtf																														
DOID:8239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715803003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363434003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46923007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2960310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202339	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015107	biolink:NamedThing	obsolete rare genetic eye disease	A form of eye disease that is both rare and inborn.	mondoexuq1wtf	rare genetic eye disease|rare genetic ophthalmologic disease			MONDO:0005328		TODO consider MESH:D015785				True		Orphanet:101435|UMLS:CN197465														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:205824006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008493	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045729	biolink:NamedThing			mondoexuq1wtf																														
DOID:5261	biolink:NamedThing			mondoexuq1wtf																														
DOID:13328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715192	biolink:NamedThing			mondoexuq1wtf																														
DOID:3122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305920	biolink:NamedThing			mondoexuq1wtf																														
DOID:5758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432197	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154279005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608762	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363375006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119028	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253783001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723454008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808963	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37109004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25289003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717633007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0239460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:530995	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240675006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394640000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13969006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25044007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75122	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62985007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197803002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141132	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189887007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199581000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40103	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154071	biolink:NamedThing			mondoexuq1wtf																														
DOID:9470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733046006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342442	biolink:NamedThing			mondoexuq1wtf																														
DOID:12633	biolink:NamedThing			mondoexuq1wtf																														
DOID:11716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266377009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359714009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38394007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128660	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76916001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203946	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:575006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11790000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721236002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832665	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22315007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54470008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725044000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334452	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238517	biolink:NamedThing			mondoexuq1wtf																														
DOID:4560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128078004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156370	biolink:NamedThing			mondoexuq1wtf																														
DOID:12546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37439003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16140007	biolink:NamedThing			mondoexuq1wtf																														
DOID:9909	biolink:NamedThing			mondoexuq1wtf																														
DOID:5301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238676008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008190	biolink:NamedThing	obsolete human papillomavirus type 18 integration site 1		mondoexuq1wtf							http://identifiers.org/hgnc/5166			True																				owl:Class
UMLS:C1415708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201903	biolink:NamedThing			mondoexuq1wtf																														
DOID:5304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408335007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763719001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204152008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445236007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195436007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197649009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20376005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56344009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91053000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201799006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715737004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268335	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715981004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:104081000119103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763770005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202781001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2852	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59051007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155505008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360402008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154482003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240171001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196016006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2973787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C173104	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93602	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56267009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035597	biolink:NamedThing			mondoexuq1wtf																														
DOID:14155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431692	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14333004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32482005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387712008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677604	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85901000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537788	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038362	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254704004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312591002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2174	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855732	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309645	biolink:NamedThing			mondoexuq1wtf																														
DOID:11868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84757009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607039	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612925	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53726008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87782002	biolink:NamedThing			mondoexuq1wtf																														
DOID:248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202653001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266304003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157017000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37501009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554496	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016634	biolink:NamedThing	obsolete thrombotic disorder due to an acquired coagulation factors defect	An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual.	mondoexuq1wtf	acquired rare thrombotic disorder due to a coagulation factors defect	MONDO:outOfScope								True		Orphanet:248365|UMLS:CN226984														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MESH:C537296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211277	biolink:NamedThing			mondoexuq1wtf																														
DOID:3770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535454	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0042492	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:363414004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723097009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255147003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279635	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015328	biolink:NamedThing	obsolete rare bone development disorder	Any of the forms of bone development disease that have a rare incidence.	mondoexuq1wtf	bone development disorder|rare bone development disease|rare skeletal development disorder			MONDO:0005497			UMLS:C0005941			True		NCIT:C34432|Orphanet:139012														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:78031003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203914002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018803	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:12237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239076000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155188004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127030001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20224008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79410	biolink:NamedThing			mondoexuq1wtf																														
DOID:5847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227802	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239064000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75111000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332614	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060737	biolink:NamedThing			mondoexuq1wtf																														
DOID:206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44359008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:103326000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751651	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699190008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0887833	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39347009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193283009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206639	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75331009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:522037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187652003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93130009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019189	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840475	biolink:NamedThing			mondoexuq1wtf																														
DOID:11491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254676008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN231736	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3015	biolink:NamedThing			mondoexuq1wtf																														
DOID:1067	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018797	biolink:NamedThing	obsolete genetic cardiac malformation		mondoexuq1wtf							MONDO:0005453			True		Orphanet:477805														https://github.com/monarch-initiative/mondo/issues/1175				owl:Class
http://identifiers.org/omim/609257	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267653001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65038009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194787000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79765	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92810002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367318001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190545008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2718001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717822006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615945	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:590539	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481508	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30298009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190450004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274096000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719013004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237889002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191557005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372095001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723442008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725031005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024236	biolink:NamedThing	obsolete degenerative disorder	A disorder characterized by the progressive loss of function and/or structure of the affected tissues.	mondoexuq1wtf	degenerative disorder|degenerative disease					The subclasses were not a disease but a feature or a process.				True		UMLS:C1285162|SCTID:362975008|NCIT:C27090|ICD9:796.4														https://github.com/monarch-initiative/mondo/issues/528				owl:Class
NCIT:C27090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858854	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080388	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393541	biolink:NamedThing			mondoexuq1wtf																														
DOID:10567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200228	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013342	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006059	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1831619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155477004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733603009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603553	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50810	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47270006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221290	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46219009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3744001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:482072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:261713004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268759009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204305006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026705	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118438	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154642000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:146801000119103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153952	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227823	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717768004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675187	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480898	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018248	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015669	biolink:NamedThing	obsolete rare disease with dentinogenesis imperfecta		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0011436			True		Orphanet:167762														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:167762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748753	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2930	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:442835	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190349003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763408003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844696	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2315246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134335004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4270	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031542	biolink:NamedThing			mondoexuq1wtf																														
DOID:9498	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130982	biolink:NamedThing			mondoexuq1wtf																														
DOID:8022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN570505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732249002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:982001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537670	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75934005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266244008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59399004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613688	biolink:NamedThing			mondoexuq1wtf																														
DOID:3855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267558001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050860	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717228004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003966	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018295	biolink:NamedThing	obsolete congenital disorder of glycosylation with deafness as a major feature		mondoexuq1wtf	CDG with deafness as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371212														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:371212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536366	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020209	biolink:NamedThing	obsolete rare hyperopia and astigmatism		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN227819|Orphanet:98621														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227819	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699754008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748841	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567141	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615553	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536055	biolink:NamedThing			mondoexuq1wtf																														
DOID:12905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702313004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60785	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020116	biolink:NamedThing	obsolete rare blood coagulation disease	Any of the forms of blood coagulation disease that have a rare incidence.	mondoexuq1wtf	rare coagulation disorder|rare blood coagulation disease			MONDO:0001531			UMLS:C0005779			True		Orphanet:98429														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C3148558	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272328	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444013	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41370002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192930001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367374009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363416002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99915	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009753	biolink:NamedThing	obsolete neurovisceral storage disease with Curvilinear bodies		mondoexuq1wtf	neurovisceral storage disease with Curvilinear bodies									True		OMIM:257000|MESH:C564944|UMLS:C1850382														https://github.com/monarch-initiative/hpo-annotation-data/issues/260				owl:Class
http://identifiers.org/omim/257000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274391	biolink:NamedThing			mondoexuq1wtf																														
DOID:745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308147009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4721893	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005891	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194285007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199480002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27637000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:425120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267996008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196586009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:409941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060348	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607853	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007801	biolink:NamedThing	obsolete hypoplasia of teeth roots		mondoexuq1wtf	hypoplasia of teeth roots						MONDO:0007436			True		MESH:C564144|OMIM:146400																		owl:Class
UMLS:C1840317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92782006	biolink:NamedThing			mondoexuq1wtf																														
DOID:635	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931498	biolink:NamedThing			mondoexuq1wtf																														
DOID:6693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154529008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190017008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070215	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335745	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6265	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193986007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372281005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154423006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1824925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335169	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004137	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0023931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203592006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015937	biolink:NamedThing	obsolete rare inflammatory eye disease		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0014236			True		Orphanet:182214|UMLS:CN200527														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015316	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225281	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536203	biolink:NamedThing			mondoexuq1wtf																														
DOID:1627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239050000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535322	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839413	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85005007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204961009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235856003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190436009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722031003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157021007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852831	biolink:NamedThing			mondoexuq1wtf																														
DOID:11240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55260003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1395	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052456	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017753	biolink:NamedThing	obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation		mondoexuq1wtf	disorder of peroxisomal alpha-, beta- and omega-oxidation	out of scope					MONDO:0019233|MONDO:0100277			True		GARD:0012476|Orphanet:309810|UMLS:CN227198														https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation|https://github.com/monarch-initiative/mondo/issues/3316				owl:Class
MONDO:0001445	biolink:NamedThing	obsolete neurogenic bladder	Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy).	mondoexuq1wtf	obsolete neurogenic bladder (disease)|neuropathic bladder|neurogenic bladder|neurogenic dysfunction of the urinary bladder|neurogenic urinary bladder disorder		obsolete neurogenic bladder (disease)				HP:0000011			True		SCTID:398064005|ICD9:596.54|DOID:12143|UMLS:C0005697|MESH:D001750|HP:0000011														https://github.com/monarch-initiative/mondo/issues/974				owl:Class
UMLS:C0005697	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723444009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95711	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47032000	biolink:NamedThing			mondoexuq1wtf																														
DOID:14261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600977	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40970001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D043604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600113	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108145	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50791	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019709	biolink:NamedThing	obsolete cleidocranial dysplasia and isolated cranial ossification defect		mondoexuq1wtf										True		Orphanet:93451																		owl:Class
ORPHA:93451	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97927	biolink:NamedThing			mondoexuq1wtf																														
DOID:4869	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154415009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225418	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162080004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154794008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9253	biolink:NamedThing			mondoexuq1wtf																														
DOID:6938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194378006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27550009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31642005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269607003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009208	biolink:NamedThing			mondoexuq1wtf																														
DOID:5894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007095	biolink:NamedThing			mondoexuq1wtf																														
DOID:4206	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510873	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489789	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310643	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833170	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76627001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230547002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412069	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2343	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307052	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003089	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192398000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562396	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3689	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265373	biolink:NamedThing			mondoexuq1wtf																														
DOID:5238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003869	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050651	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065151	biolink:NamedThing			mondoexuq1wtf																														
DOID:11661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65295003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186802002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226850	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015826	biolink:NamedThing			mondoexuq1wtf																														
DOID:6742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C157268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930953	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703309000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023281	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2284002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124470009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48952003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201599009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333071	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234468009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92289001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319504	biolink:NamedThing			mondoexuq1wtf																														
DOID:10177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031306	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299247	biolink:NamedThing			mondoexuq1wtf																														
DOID:10304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749023	biolink:NamedThing			mondoexuq1wtf																														
DOID:10132	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150914	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89114005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89208008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84666	biolink:NamedThing			mondoexuq1wtf																														
DOID:9622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235746007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188083002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023873	biolink:NamedThing	obsolete Noonan-like/multiple giant cell lesion syndrome	Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.	mondoexuq1wtf	NL/MGCLS						MONDO:0008104|MONDO:0012547			True		GARD:0004006|OMIM:163955																		owl:Class
DOID:930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253904001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23687008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90739004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:258117004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:785	biolink:NamedThing			mondoexuq1wtf																														
DOID:7181	biolink:NamedThing			mondoexuq1wtf																														
DOID:705	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39112005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193071	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4539	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206281003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152267	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751759	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537031	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87991007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254856004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3492944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703388005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301789000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128189008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060673	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408647009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345920	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54181000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162031009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5761	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95330001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237510004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193863004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080201	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122654	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237041005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715577009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565255	biolink:NamedThing			mondoexuq1wtf																														
DOID:13002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234433009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703403003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154270009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027430	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044256	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in, 5		mondoexuq1wtf	skin/hair/eye pigmentation, variation IN, 5|SHEP5|skin/hair/eye pigmentation 5, dark/fair skin|skin/hair/eye pigmentation 5, dark/Light eyes|skin/hair/eye pigmentation 5, Black/nonblack hair					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:227240																		owl:Class
UMLS:C2673584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109888004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022694	biolink:NamedThing			mondoexuq1wtf																														
DOID:10816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268620009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276812001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2398	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4191	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7393	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715634002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217619	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60033	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36233006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001932	biolink:NamedThing	obsolete atrophic vulva		mondoexuq1wtf	atrophic vulvitis|atrophic vulva|atrophy of vulva					This is not a true disease, more of a phenotype or process.				True		DOID:14275|COHD:438208|UMLS:C0156393|SCTID:248861000|ICD9:624.1|ICD10:N90.5														https://github.com/monarch-initiative/mondo/issues/2312				owl:Class
DOID:14275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10741005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1392622	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202456000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41137001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126952004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702318008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149705	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61265	biolink:NamedThing			mondoexuq1wtf																														
DOID:11594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1442935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334663	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765195000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863239	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010279	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715862006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268075001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021432	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111593	biolink:NamedThing			mondoexuq1wtf																														
DOID:1143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931604	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537274	biolink:NamedThing			mondoexuq1wtf																														
DOID:5691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154391003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565742	biolink:NamedThing			mondoexuq1wtf																														
DOID:11202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94149003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51995000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109603007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123330	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011855	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015959	biolink:NamedThing	obsolete inherited syndrome with bone tumors as a major feature		mondoexuq1wtf	genetic bone tumor			MONDO:0005070		This class was seeded from the ORDO genetic bone tumor class. We have renamed as this reflects the intent. See discussion here: https://github.com/Orphanet/ORDO/issues/13				True		Orphanet:183527|UMLS:CN200554														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
DOID:6312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280041	biolink:NamedThing			mondoexuq1wtf																														
DOID:3944	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79120002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609621	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:25980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154540000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154432008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:217670007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176090	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262056	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197461009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186969007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707435002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268074	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015974	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206702	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716747007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:189427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239058007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254820002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618285	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275476	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063435	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189814006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536798	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403996004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187648003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1413250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39942	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073991	biolink:NamedThing			mondoexuq1wtf																														
DOID:6383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439575008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127350	biolink:NamedThing			mondoexuq1wtf																														
DOID:2945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63211008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234421004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264978	biolink:NamedThing			mondoexuq1wtf																														
DOID:12750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700111000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83405000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267799009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200366	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27178	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110265	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007960	biolink:NamedThing	obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome		mondoexuq1wtf		terms split		MONDO:0100354						True																https://github.com/monarch-initiative/mondo/issues/3154				owl:Class
http://identifiers.org/omim/619065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41371000119100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726543008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064569	biolink:NamedThing			mondoexuq1wtf																														
DOID:7675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:576379	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207495	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180824	biolink:NamedThing			mondoexuq1wtf																														
DOID:6085	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021213	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:C548006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190127000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63835008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702432006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863622	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1806006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122795	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188145001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403975006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891828	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060852	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44730006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216729	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132826	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702344008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237493003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509837	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:13	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156727006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61100004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238853007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345590	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531791	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235387	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564264	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563470	biolink:NamedThing			mondoexuq1wtf																														
DOID:436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0454651	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234477002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333158	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614371	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410812005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220695	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859972	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020104	biolink:NamedThing	obsolete rare constitutional hemolytic anemia due to an enzyme disorder		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging with parent	ICD10:D55.0|ICD10:D55.3|ICD10:D55.8|ICD10:D55.1|ICD10:D55.9|ICD10:D55.2			True		UMLS:CN227782|Orphanet:98369														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:1259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52138004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76175005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3698136	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187116001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334957	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580192	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146700	biolink:NamedThing			mondoexuq1wtf																														
DOID:5635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537615	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154879	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617912	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69085	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611907	biolink:NamedThing			mondoexuq1wtf																														
DOID:6809	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11218009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111306001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302514	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096562	biolink:NamedThing			mondoexuq1wtf																														
DOID:7408	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186305007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414388001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567057	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060835	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567089	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221018	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004818	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015861	biolink:NamedThing	obsolete rare uterine adnexal tumor		mondoexuq1wtf	syn: Rare tumor of ovaries and fallopian tubes	MONDO:outOfScope								True		Orphanet:180220|UMLS:CN200464														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3830	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53649	biolink:NamedThing			mondoexuq1wtf																														
DOID:2217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60241006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310617	biolink:NamedThing			mondoexuq1wtf																														
DOID:6339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154861	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231242	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613464	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1264008	biolink:NamedThing			mondoexuq1wtf																														
DOID:10087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717814004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854883	biolink:NamedThing			mondoexuq1wtf																														
DOID:12935	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014545	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763407008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79106	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8272	biolink:NamedThing			mondoexuq1wtf																														
DOID:1243	biolink:NamedThing			mondoexuq1wtf																														
DOID:13918	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110755	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157003009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458803	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93974005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240221008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C73511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368898	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7210	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065938	biolink:NamedThing			mondoexuq1wtf																														
DOID:7465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266438007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12450	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399307	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010582	biolink:NamedThing	obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance		mondoexuq1wtf	diabetes insipidus, neurohypophyseal type					The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak."				True		UMLS:CN074293|OMIM:304900														https://github.com/monarch-initiative/mondo/pull/1914				owl:Class
UMLS:CN074293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235599003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1293	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7572	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719816006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751670	biolink:NamedThing			mondoexuq1wtf																														
DOID:4048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709413001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/540779	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155173009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855588	biolink:NamedThing			mondoexuq1wtf																														
DOID:5828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193940005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859080	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93807001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017159	biolink:NamedThing	obsolete syndrome with pulmonary hypertension as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:275853|UMLS:CN202581														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:154734005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110002002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7551	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050772	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719278006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193271007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57863006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844412	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN388854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84691	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156940009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267601009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86500004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562771	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190599003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46091002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186484007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81208006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205949	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233949008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92634	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27585	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111489007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618225	biolink:NamedThing			mondoexuq1wtf																														
DOID:4878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:133853005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155945008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1388299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602088	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001661	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553830	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018285	biolink:NamedThing	obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature		mondoexuq1wtf	X-linked CDG with intellectual disability as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371054														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
ORPHA:314466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2938983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618648	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197080000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154665005	biolink:NamedThing			mondoexuq1wtf																														
DOID:13523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192644005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363410008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154725000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307597000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609562003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13814009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92464009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3612	biolink:NamedThing			mondoexuq1wtf																														
DOID:2679	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95992	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155445002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5821	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535367	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711160007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278806	biolink:NamedThing			mondoexuq1wtf																														
DOID:949	biolink:NamedThing			mondoexuq1wtf																														
DOID:12918	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182047	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050904	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720571006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278803	biolink:NamedThing			mondoexuq1wtf																														
DOID:636	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617146	biolink:NamedThing			mondoexuq1wtf																														
DOID:12961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447330002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012552	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040092	biolink:NamedThing			mondoexuq1wtf																														
DOID:1234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118608000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9182	biolink:NamedThing			mondoexuq1wtf																														
DOID:2983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302896008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604537	biolink:NamedThing			mondoexuq1wtf																														
DOID:4079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276621	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44940001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616586	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38911009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422437002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521585	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192955007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231183	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0837177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202726	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723998001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848812	biolink:NamedThing			mondoexuq1wtf																														
DOID:7750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363348004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3338	biolink:NamedThing			mondoexuq1wtf																														
DOID:14115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707387004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97162	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192447005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193972008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198930005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158372	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004915	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:2113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267369002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020614	biolink:NamedThing	obsolete blood group--lutheran system		mondoexuq1wtf	BLOOD GROUP--LUTHERAN SYSTEM|Auberger System|LU									True		OMIM:111200																		owl:Class
UMLS:C0024171	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112682009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020597	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529980	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017797	biolink:NamedThing	obsolete rare odontologic tumor	Any of the forms of odontogenic neoplasm that have a rare incidence.	mondoexuq1wtf	rare odontogenic tumor|rare odontogenic neoplasm			MONDO:0021192						True		UMLS:CN203756|Orphanet:314425														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:314425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19471005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191015009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157098009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300854	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605728	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334370	biolink:NamedThing			mondoexuq1wtf																														
DOID:5553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153261	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853345	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86252004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832438	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601549	biolink:NamedThing			mondoexuq1wtf																														
DOID:6209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:312	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707234001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080054	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:737	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2062326	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85039006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538348	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565178	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041307	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235729009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49041	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18805001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192861006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363969	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5164	biolink:NamedThing			mondoexuq1wtf																														
DOID:3151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796176	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535685	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#do_inheritance_inconsistent	biolink:NamedThing			mondoexuq1wtf						classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406																								owl:AnnotationProperty
UMLS:C3150707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714949	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850140	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019819	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15629006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:762282007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227340	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062499	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000086382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6807001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010922	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269636003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49013001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033936	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187200007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931224	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78442	biolink:NamedThing			mondoexuq1wtf																														
DOID:4863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69488000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1262483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266619007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845296	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124466001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270750	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562651	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2350529	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29633007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542022	biolink:NamedThing			mondoexuq1wtf																														
DOID:3200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87913009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225329	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11226001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89907009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188204000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836074	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204161008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189560002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206370	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070141	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188338005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080385	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512741	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443098	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44231009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715655000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300770	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190851008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197373	biolink:NamedThing			mondoexuq1wtf																														
DOID:1251	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15777000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26033009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796013	biolink:NamedThing			mondoexuq1wtf																														
DOID:5705	biolink:NamedThing			mondoexuq1wtf																														
DOID:75	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748766	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020817	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019546	biolink:NamedThing	obsolete other acquired skin disease		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging.				True		UMLS:CN206373|Orphanet:90077														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN206373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190817009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4023190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199596	biolink:NamedThing			mondoexuq1wtf																														
DOID:5140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187886009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240241003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050488	biolink:NamedThing			mondoexuq1wtf																														
DOID:3428	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536038	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847722	biolink:NamedThing			mondoexuq1wtf																														
DOID:192	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268381	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363407001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164500	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021536	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:450886002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112687003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3838691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44673006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011556	biolink:NamedThing			mondoexuq1wtf																														
DOID:10272	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000073605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103907	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192947000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190936000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10579	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155104004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266198004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016107	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:563576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234140000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10507	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281963	biolink:NamedThing			mondoexuq1wtf																														
DOID:7747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725058003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154344005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:392	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936859	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164185	biolink:NamedThing			mondoexuq1wtf																														
DOID:3702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30285000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61738006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015891	biolink:NamedThing	obsolete hypogonadotropic hypogonadism associated with other endocrinopathies		mondoexuq1wtf										True		Orphanet:181390																		owl:Class
ORPHA:180766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300557	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0036491	biolink:NamedThing	obsolete rare childhood malignant neoplasm	An infrequent malignant neoplasm that occurs during childhood.	mondoexuq1wtf	Rare malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer|rare childhood malignant neoplasm			MONDO:0006517						True		NCIT:C114451|UMLS:C3828369														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:D018324	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968840	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015305	biolink:NamedThing	obsolete rare endometriosis	Rare endometriosis.	mondoexuq1wtf	rare endometriosis (disease)|rare endometriosis|extrapelvic endometriosis|endometriosis outside pelvis			MONDO:0005133			ICD10:N80.9|ICD10:N80.4|ICD10:N80.1|UMLS:C0014175|ICD10:N80.8|ICD10:N80.2|ICD10:N80.0|ICD10:N80.5|ICD10:N80.3|ICD10:N80.6			True		SCTID:237117005|UMLS:C0404545|Orphanet:137820														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0404545	biolink:NamedThing			mondoexuq1wtf																														
DOID:12332	biolink:NamedThing			mondoexuq1wtf																														
DOID:3223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202209	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537899	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128396	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4676	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751780	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109769000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302669	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006563	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20921005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372100004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751666	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017680	biolink:NamedThing	obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature		mondoexuq1wtf	autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature									True		Orphanet:308041|UMLS:CN203567														https://github.com/monarch-initiative/mondo/pull/2317				owl:Class
MONDO:0017678	biolink:NamedThing	obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature	A disease in which punctate palmoplantar keratoderma is a major feature..	mondoexuq1wtf	disease with punctate palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope				This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature.	UMLS:CN203565|Orphanet:308023			True																https://github.com/monarch-initiative/mondo/issues/1521|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:721751007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82836006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007521	biolink:NamedThing	obsolete egasyn		mondoexuq1wtf	egasyn|esterase 22					This is a gene, not a disease.				True		OMIM:129905														https://github.com/monarch-initiative/mondo/issues/1452				owl:Class
http://identifiers.org/omim/129905	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535745	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362965005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123259	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840644	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607134	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080141	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005142	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34782	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0087031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240524001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7230	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73237007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0232981	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220666	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721086004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71659009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012983	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12348006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252164	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718753002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415024	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724141003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9826008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723720008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334481	biolink:NamedThing			mondoexuq1wtf																														
DOID:2156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197522	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225187	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40381009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855173	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202676	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73982001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026847	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724809006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3873357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2508	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124200	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016347	biolink:NamedThing	obsolete rare cardiac rhythm disease	A rare form of cardiac rhythm disease.	mondoexuq1wtf	rare cardiac rhythm disease			MONDO:0007263						True		Orphanet:218436|UMLS:CN201185														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:391646	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015119	biolink:NamedThing	obsolete bronchopulmonary tumor		mondoexuq1wtf	rare bronchopulmonary tumor	out of scope					MONDO:0020641			True		Orphanet:101945|UMLS:CN197476														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0090056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363389001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193769006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266435	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016154	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71638002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:511	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536892	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6279	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023807	biolink:NamedThing	obsolete midphalangeal hair		mondoexuq1wtf	midphalangeal hair|Middigital hair									True		GARD:0009992|OMIM:157200|MESH:C537471																		owl:Class
OBO:mondo#not_a_disease	biolink:NamedThing			mondoexuq1wtf						classes that do not represent diseases																								owl:AnnotationProperty
http://identifiers.org/omim/145700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152230	biolink:NamedThing			mondoexuq1wtf																														
DOID:14350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44115007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54036001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553774	biolink:NamedThing			mondoexuq1wtf																														
DOID:6451	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91358	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270849	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563248	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007725	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154998003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715560009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271468	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609558009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254617008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123214	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565461	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187729008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715828006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74100001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254819008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198112004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7073	biolink:NamedThing			mondoexuq1wtf																														
DOID:2050	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020254	biolink:NamedThing	obsolete craniostenosis associated with a strabismus		mondoexuq1wtf										True		Orphanet:98684																		owl:Class
SNOMEDCT:109041000119107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1959620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024143	biolink:NamedThing			mondoexuq1wtf																														
DOID:3667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190831009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29609001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189924002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156521009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155168003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050831	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563327	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416669000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268873007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718393002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36071006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27956007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394515001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1972	biolink:NamedThing			mondoexuq1wtf																														
DOID:8130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239052008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85780006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1452	biolink:NamedThing			mondoexuq1wtf																														
DOID:10371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205549003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044221	biolink:NamedThing	obsolete blood group--lutheran inhibitor		mondoexuq1wtf	blood group--Lutheran INHIBITOR|dominant 50U (A-B-) phenotype|INLU					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:111150																		owl:Class
http://identifiers.org/omim/111150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190820001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188242006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267347009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399505005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247153005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230253001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98918	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021278	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C3810080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013595	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11290001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2184126	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200772001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45007003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77690003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1243	biolink:NamedThing			mondoexuq1wtf																														
DOID:6067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615877	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009196	biolink:NamedThing			mondoexuq1wtf																														
MESH:D061387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237068005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970309	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:265377002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931668	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007189	biolink:NamedThing	obsolete B-cell growth factor		mondoexuq1wtf	BCGF|B-cell growth factor|B-cell growth Factor 1	out of scope								True		OMIM:109540														https://github.com/monarch-initiative/mondo/issues/2943				owl:Class
UMLS:C1862295	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191194009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834532	biolink:NamedThing			mondoexuq1wtf																														
DOID:5711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:535453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:361	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060147	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334469	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194085000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D061686	biolink:NamedThing			mondoexuq1wtf																														
DOID:1363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:478042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204114007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268124	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003420	biolink:NamedThing			mondoexuq1wtf																														
DOID:2939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403426003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716279002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372105009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007632	biolink:NamedThing	obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)		mondoexuq1wtf	fragile site 16Q22|FRA16B|fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)|fragile site, Distamycin a type, rare, fra(16)(q22.1)			MONDO:0002399		This is not a disease.				True		OMIM:136580														https://github.com/monarch-initiative/mondo/issues/1452				owl:Class
UMLS:C1414721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835491	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155888001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91955005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404025004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035411	biolink:NamedThing			mondoexuq1wtf																														
DOID:865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67574008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251159007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702398007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2109003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:244305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84598	biolink:NamedThing			mondoexuq1wtf																														
DOID:8568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931840	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3640	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000795	biolink:NamedThing	obsolete penicillin allergy	An allergy to Penicillin.	mondoexuq1wtf	penicillin allergic disease|allergy of penicillin	MONDO:outOfScope					ICD9:995.27			True		ICD9:V14.0|SCTID:91936005|UMLS:C0030824|DOID:0060520|NCIT:C34911														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751396	biolink:NamedThing			mondoexuq1wtf																														
DOID:11907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864887	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42513006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110657	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020243	biolink:NamedThing	obsolete colobomatous and areolar dystrophy		mondoexuq1wtf										True		Orphanet:98665																		owl:Class
ORPHA:98665	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49393005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62628008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398554008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35771	biolink:NamedThing			mondoexuq1wtf																														
DOID:9471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1303009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931326	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564105	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617874	biolink:NamedThing			mondoexuq1wtf																														
DOID:10017	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155924001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766756002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266295005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186943001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041324	biolink:NamedThing			mondoexuq1wtf																														
DOID:14319	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011378	biolink:NamedThing	obsolete CFM1		mondoexuq1wtf	cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1					This is a gene, not a disease.				True		OMIM:603855														https://github.com/monarch-initiative/mondo/issues/1861				owl:Class
http://identifiers.org/omim/603855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154594005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349604	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3405	biolink:NamedThing			mondoexuq1wtf																														
DOID:3756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:390	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403562000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808553	biolink:NamedThing			mondoexuq1wtf																														
DOID:551	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016080	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255111004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511305	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537771	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600320	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020028	biolink:NamedThing	obsolete rare allergic respiratory disease	Rare respiratory allergy.	mondoexuq1wtf	rare respiratory allergy|rare allergic respiratory disease			MONDO:0000771						True		UMLS:C1504369|Orphanet:98052														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C4310801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711591	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109492001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860787	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015112	biolink:NamedThing	obsolete rare pancreatic disease	Any of the forms of pancreas disease that have a rare incidence.	mondoexuq1wtf	rare pancreas disease			MONDO:0002356			UMLS:C0030286			True		Orphanet:101937														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/617519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004576	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014901	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237616002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218670	biolink:NamedThing			mondoexuq1wtf																														
DOID:5522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34965	biolink:NamedThing			mondoexuq1wtf																														
DOID:12401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156376003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751689	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79353	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186246004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702411003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0563449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325546	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156233003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206920	biolink:NamedThing			mondoexuq1wtf																														
DOID:2892	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113335	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614201	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018265	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:117	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN317535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16110005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131375	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193770007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110087	biolink:NamedThing			mondoexuq1wtf																														
DOID:7463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128667008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676191	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205596006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150275	biolink:NamedThing			mondoexuq1wtf																														
DOID:9483	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300985	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266231003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414824005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253771003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857855	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:530792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1697878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:385483009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458718	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441456002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392288006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008539	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716007007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225363	biolink:NamedThing			mondoexuq1wtf																														
DOID:10316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32390006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:600009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90062	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360364008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192828004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018265	biolink:NamedThing	obsolete rare disorder with dystonia and other neurologic or systemic manifestation		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:370106|UMLS:CN227296														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN227296	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83157008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:471268000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128634009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266498005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39781001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71325002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225334	biolink:NamedThing			mondoexuq1wtf																														
DOID:12117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376480	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15566009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69186005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68588005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006561	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304885	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198006006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13973009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085243	biolink:NamedThing			mondoexuq1wtf																														
DOID:11914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93235007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418279001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722392003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763069002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018405	biolink:NamedThing	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|rare male infertility due to gonadotropic axis disorder of genetic origin	MONDO:outOfScope					ICD10:N46			True		Orphanet:399983|UMLS:CN227350														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:190795007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35301006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98993	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702437000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111694	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060254	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537352	biolink:NamedThing			mondoexuq1wtf																														
DOID:11335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187778003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198275001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52404001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765751002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357027	biolink:NamedThing			mondoexuq1wtf																														
DOID:62	biolink:NamedThing			mondoexuq1wtf																														
DOID:5160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2364003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616819	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252028	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058285	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264774	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235728001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397961002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614190	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017632	biolink:NamedThing	obsolete rare tumor of liver and intrahepatic biliary tract	Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence.	mondoexuq1wtf	rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT			MONDO:0024477			UMLS:C0023903			True		Orphanet:306636														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C40077	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406594	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8217007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458841	biolink:NamedThing			mondoexuq1wtf																														
DOID:5634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041107	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131684	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714753	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72682008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198335006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187176005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193607003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931504	biolink:NamedThing			mondoexuq1wtf																														
DOID:10967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0879257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205805008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564286	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536873	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191720001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614134	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276204002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195362002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191235004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042131	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189633003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007825	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334560	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018254	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535831	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191530	biolink:NamedThing			mondoexuq1wtf																														
DOID:4838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610798	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016250	biolink:NamedThing	obsolete rare adenocarcinoma of the breast	Any of the forms of breast adenocarcinoma that have a rare incidence.	mondoexuq1wtf	rare breast adenocarcinoma			MONDO:0004988			UMLS:C0858252|ICD10:C50.0|ICD10:C50.5|ICD10:C50.4|ICD10:C50.2|ICD10:C50.8|ICD10:C50.6|ICD10:C50.1|ICD10:C50.3			True		Orphanet:213528|GARD:0012773														https://github.com/monarch-initiative/mondo/issues/254|https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast				owl:Class
ORPHA:213528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93446	biolink:NamedThing			mondoexuq1wtf																														
DOID:159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50194006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014398	biolink:NamedThing			mondoexuq1wtf																														
DOID:14498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187636001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267478007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266294009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403982005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191305009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126834003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201063	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537688	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226932	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446022000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187792009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833607	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006370	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110593	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166073	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN238505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445105005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C138174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91357005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17460002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537504	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016778	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619209	biolink:NamedThing			mondoexuq1wtf																														
DOID:5772	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832111	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022267	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:180229	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11538006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193868008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4568	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535856	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020072	biolink:NamedThing			mondoexuq1wtf																														
DOID:10991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050175	biolink:NamedThing			mondoexuq1wtf																														
DOID:2784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187725002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44086001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026709	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062171	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004932	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861455	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836670	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231536004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834418	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204453	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020201	biolink:NamedThing	obsolete conjunctival telangiectasia		mondoexuq1wtf	conjunctival telangiectasia|obsolete conjunctival telangiectasia (disease)		obsolete conjunctival telangiectasia (disease)			Obsolete in Orphanet	MONDO:0006170			True		UMLS:C0239105|Orphanet:98613|MedDRA:10072143|HP:0000524																		owl:Class
UMLS:C0239105	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310734	biolink:NamedThing			mondoexuq1wtf																														
DOID:5683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834653	biolink:NamedThing			mondoexuq1wtf																														
DOID:6316	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3490459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616069	biolink:NamedThing			mondoexuq1wtf																														
DOID:2251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42069006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024109	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070126	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832845	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718177001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12962009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686378	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266578003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1417917	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111804008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2981712	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92411005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718605009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360337007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329341	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82864	biolink:NamedThing			mondoexuq1wtf																														
DOID:10020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83714006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79745005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206715	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717256009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86830	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015981	biolink:NamedThing	obsolete inherited gynecological tumor		mondoexuq1wtf	genetic gynecological tumor|rare genetic female reproductive system tumor									True		Orphanet:183734|UMLS:CN200581																		owl:Class
MESH:D046110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763369007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027668	biolink:NamedThing			mondoexuq1wtf																														
DOID:4955	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018729	biolink:NamedThing	obsolete genetic vascular tumor	An instance of rare vascular tumor that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic rare vascular tumor|rare genetic vascular tumor	out of scope					MONDO:0024296			True		UMLS:CN242080|Orphanet:459543														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN242080	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537826	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063935	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71682006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126963001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1162	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877149	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536132	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619131	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39837	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94997003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189217007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8960007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285636001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700082001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707272006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35183001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN169366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203994003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35014	biolink:NamedThing			mondoexuq1wtf																														
DOID:3491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840430	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387891008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97279	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845454	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537834	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480864	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608106	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036529	biolink:NamedThing			mondoexuq1wtf																														
DOID:4321	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715789009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82699004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195264004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189574009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367455000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76272004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187492008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609577006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015242	biolink:NamedThing			mondoexuq1wtf																														
DOID:13564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516408	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050202	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8265	biolink:NamedThing			mondoexuq1wtf																														
DOID:482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519182	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98604	biolink:NamedThing			mondoexuq1wtf																														
DOID:13208	biolink:NamedThing			mondoexuq1wtf																														
DOID:10849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN753759	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015958	biolink:NamedThing	obsolete rare genetic bone disease	Rare genetic bone disease.	mondoexuq1wtf	rare genetic bone disease			MONDO:0005381						True		Orphanet:183524|UMLS:CN200553														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:231637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199010001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN168921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267557	biolink:NamedThing			mondoexuq1wtf																														
DOID:4765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238819008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31993003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35574	biolink:NamedThing			mondoexuq1wtf																														
DOID:429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334513	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564168	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4199	biolink:NamedThing			mondoexuq1wtf																														
DOID:7558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155129005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266562000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412036	biolink:NamedThing			mondoexuq1wtf																														
DOID:3605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707443007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618316	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618948	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186993002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN882913	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128348002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/11567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154739000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050743	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2308	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0043881	biolink:NamedThing	obsolete acute eosinophilic leukemia	A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)	mondoexuq1wtf	leukemia, acute eosinophilic|eosinophilic leukemias, acute|acute eosinophilic leukemias|acute eosinophilic leukemia|leukemias, acute eosinophilic|eosinophilic leukemia, acute									True		MESH:D015472|UMLS:C0023439|SCTID:277604002|EFO:1001888|NCIT:C26813																		owl:Class
MESH:D015472	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186773004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111395007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050539	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56009001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0243025	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195251000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600079	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333626	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719299009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83314	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722005000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314467007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418304008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42658009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859318	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018455	biolink:NamedThing	obsolete dysostosis of genetic origin with limb anomaly as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:404571														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
ORPHA:404571	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021504	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:155191004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703526007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719944006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294963	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263882	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751824	biolink:NamedThing			mondoexuq1wtf																														
DOID:769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372091005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81808003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5181007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240104008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613830	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837437	biolink:NamedThing			mondoexuq1wtf																														
DOID:2880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607239	biolink:NamedThing			mondoexuq1wtf																														
DOID:3636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716096005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:298121002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21013006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26436007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189987006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204071008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:310701003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723579009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196557006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276225	biolink:NamedThing			mondoexuq1wtf																														
DOID:13582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:290006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036231	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034065	biolink:NamedThing			mondoexuq1wtf																														
DOID:9673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722475006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363476006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397190009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69515008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717276003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98861	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1775	biolink:NamedThing			mondoexuq1wtf																														
DOID:12558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80908008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197602	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853566	biolink:NamedThing			mondoexuq1wtf																														
DOID:2075	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007798	biolink:NamedThing	obsolete adult hypophosphatasia	Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.	mondoexuq1wtf	mild hypophosphatasia|hypophosphatasia of adults|hypophosphatasia, ADULT|hypophosphatasia, mild|odontohypophosphatasia|adult phosphoethanolaminuria|adult Rathburn disease	out of scope					MONDO:0600010|MONDO:0600009|MONDO:0600011			True		UMLS:C0268413|ICD10:E83.3|Orphanet:247676|SCTID:20756002|OMIM:146300|DOID:0110913														https://github.com/monarch-initiative/mondo/issues/2906				owl:Class
ORPHA:247676	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565425	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080431	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101024	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019038	biolink:NamedThing	obsolete rare maxillo-facial surgical disease		mondoexuq1wtf	rare maxillofacial anomaly	MONDO:outOfScope								True		UMLS:CN205523|Orphanet:68329														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:68329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:939	biolink:NamedThing			mondoexuq1wtf																														
DOID:3216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123841004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154555009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN620433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:527276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186677009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267663	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019937	biolink:NamedThing	obsolete rare gynecologic or obstetric disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN206853|Orphanet:96344														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:96344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310625	biolink:NamedThing			mondoexuq1wtf																														
DOID:5062	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309252	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201198005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155864003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46963008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617821	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53773002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134182002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618916	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764108000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721232000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393605009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234371002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060439	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014987	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615922	biolink:NamedThing			mondoexuq1wtf																														
DOID:8590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83486002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535904	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563840	biolink:NamedThing			mondoexuq1wtf																														
DOID:4650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254088006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49263001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110496	biolink:NamedThing			mondoexuq1wtf																														
DOID:6112	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079301	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020139	biolink:NamedThing	obsolete early-onset ataxia with dementia		mondoexuq1wtf										True		Orphanet:98539																		owl:Class
http://identifiers.org/omim/180295	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40446	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857495	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186091002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190759004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719521002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060604	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9499	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281587000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67224007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363445000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300471	biolink:NamedThing			mondoexuq1wtf																														
DOID:12305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1265997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34771	biolink:NamedThing			mondoexuq1wtf																														
DOID:1079	biolink:NamedThing			mondoexuq1wtf																														
DOID:4422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193907001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833118	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:512103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45556008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000529	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C75002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1631597	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239889005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240816000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13169	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600808	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128073008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4086533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277550009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334254	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129103003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267479004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154605007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400085009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193564003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014985	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601390	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268644006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536973	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111033	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000232	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267729001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339838	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80384002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334258	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92735004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34897	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085348	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C141424	biolink:NamedThing			mondoexuq1wtf																														
DOID:48	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537932	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020186	biolink:NamedThing	obsolete eyebrow hypertrophy		mondoexuq1wtf										True		Orphanet:98596														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
UMLS:C1333873	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060096	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608996	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197971002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763133008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619232	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566490	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227737	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012466	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3617	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN221583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865783	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243910	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268113	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050431	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210581	biolink:NamedThing			mondoexuq1wtf																														
DOID:7757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190274003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195980003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126692004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370396	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016631	biolink:NamedThing	obsolete hemorrhagic disorder due to an acquired platelet anomaly	A hemorrhagic disorder due to a platelet anomaly which develops after birth.	mondoexuq1wtf	rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired platelet anomaly|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly|rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia	MONDO:outOfScope								True		UMLS:CN226981|Orphanet:248347														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0110296	biolink:NamedThing			mondoexuq1wtf																														
DOID:6961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363659	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604317	biolink:NamedThing			mondoexuq1wtf																														
DOID:11193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128833001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001733	biolink:NamedThing			mondoexuq1wtf																														
DOID:7824	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019997	biolink:NamedThing	obsolete rare gastroenterologic disease		mondoexuq1wtf				MONDO:0000001						True		UMLS:CN206933|Orphanet:97935														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809243	biolink:NamedThing			mondoexuq1wtf																														
DOID:10223	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613848	biolink:NamedThing			mondoexuq1wtf																														
DOID:7735	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615235	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332955	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141258	biolink:NamedThing			mondoexuq1wtf																														
DOID:5603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405951008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156820001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536240	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13138006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C51225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:471885006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157848	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190011009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763776004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13285005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76976005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259440	biolink:NamedThing			mondoexuq1wtf																														
DOID:7612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65576009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396275006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867775	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936864	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154092	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019464	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715440003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186975003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266509007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:750009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044248	biolink:NamedThing	obsolete thiourea tasting	The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}).	mondoexuq1wtf	Propylthiouracil tasting|thiourea tasting|ptc tasting|Phenylthiocarbamide tasting|prop tasting|THIOT					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:171200																		owl:Class
UMLS:C1868398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190475000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205032	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203995002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009428	biolink:NamedThing	obsolete childhood hypophosphatasia	Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.	mondoexuq1wtf	childhood-onset Rathburn disease|childhood-onset phosphoethanolaminuria|hypophosphatasia, childhood|pediatric hypophosphatasia|childhood-onset hypophosphatasia|hypophosphatasia of childhood	out of scope					MONDO:0600010|MONDO:0600009|MONDO:0600011			True		GARD:0008735|UMLS:C0220743|OMIM:241510|MESH:C562440|SCTID:30174008|Orphanet:247667|ICD10:E83.3|DOID:0110915														https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia|https://github.com/monarch-initiative/mondo/issues/2906				owl:Class
MESH:C562440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0458219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200284000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237250000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266271008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060150	biolink:NamedThing			mondoexuq1wtf																														
DOID:2155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0489959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50521	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565344	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4651	biolink:NamedThing			mondoexuq1wtf																														
DOID:13238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3543825	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005935	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018397	biolink:NamedThing	obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder		mondoexuq1wtf	rare female infertility due to hypothalamic-pituitary-ovarian axis disorder|rare female infertility due to gonadotropic axis disorder	MONDO:outOfScope					ICD10:N97.0			True		Orphanet:399831|UMLS:CN227343														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
http://identifiers.org/omim/616863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266653006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254988008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615859	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230690007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115665	biolink:NamedThing			mondoexuq1wtf																														
DOID:10194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716766007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191816009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300846	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111736	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557675	biolink:NamedThing			mondoexuq1wtf																														
DOID:3082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190785000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611719	biolink:NamedThing			mondoexuq1wtf																														
DOID:2555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108985	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2897	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9733003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372065009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154296006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722212004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32280000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399906000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40051	biolink:NamedThing			mondoexuq1wtf																														
DOID:4249	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:310589001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538187	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604091	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003790	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723361006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72211003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750514	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:257550005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114550	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015475	biolink:NamedThing	obsolete rare head and neck malformation		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN226686|Orphanet:155832														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:155832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34974	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:122811000119101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724275005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699308002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255160	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266616000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841695	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4318479	biolink:NamedThing			mondoexuq1wtf																														
DOID:2791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423627007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269614001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1963929	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254249002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79062	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207134	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186782005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006840	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313414002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043391	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154842	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227786	biolink:NamedThing			mondoexuq1wtf																														
DOID:12714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200616	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3238004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192096007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217656	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044268	biolink:NamedThing	obsolete transsexuality		mondoexuq1wtf	TRANSSEXUALITY					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:600952																		owl:Class
http://identifiers.org/omim/600952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615073	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020141	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001281	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191165002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4536	biolink:NamedThing			mondoexuq1wtf																														
DOID:4683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33979003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476403	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000501	biolink:NamedThing	obsolete Jensen syndrome		mondoexuq1wtf	syndrome of opticoacoustic nerve atrophy with dementia|opticoacoustic nerve atrophy with dementia|Jensen syndrome|deafness-opticoacoustic nerve atrophy-dementia syndrome|Opticoacustic nerve atrophy with dementia|nerve deafness optic nerve atrophy, and dementia			MONDO:0010578						True		GARD:0003046|DOID:0050867|UMLS:C1839564|MESH:C537568														https://rarediseases.info.nih.gov/diseases/3046/jensen-syndrome				owl:Class
UMLS:C1839564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193849005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225689	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL007210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186287003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137270	biolink:NamedThing			mondoexuq1wtf																														
DOID:7729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300966	biolink:NamedThing			mondoexuq1wtf																														
DOID:5120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717911008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426692001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70826003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98895	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766874001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236740006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852283	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193432007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13612005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013447	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005860	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:90795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253064000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006551	biolink:NamedThing			mondoexuq1wtf																														
DOID:5774	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2184	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17541006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69663004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128477000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197129004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080065	biolink:NamedThing			mondoexuq1wtf																														
DOID:2282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:352818000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060581	biolink:NamedThing			mondoexuq1wtf																														
MESH:C545036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280781	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230572002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154303009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140286	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836482	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67560	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733638006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275708	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92663007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2298005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431375	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713315007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268151	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51003001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189938009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111108	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205874	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015984	biolink:NamedThing	obsolete rare genetic immune disease	Rare genetic immune system disease.	mondoexuq1wtf	rare genetic immune system disease			MONDO:0005046						True		UMLS:CN200582|Orphanet:183770														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:7817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192436003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79327	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535330	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110553	biolink:NamedThing			mondoexuq1wtf																														
DOID:5046	biolink:NamedThing			mondoexuq1wtf																														
DOID:12527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154596007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203365001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018488	biolink:NamedThing	obsolete rare genetic odontal or periodontal disorder		mondoexuq1wtf		MONDO:outOfScope				May be obsoleted. The semantics of the ORDO class are not clear				True		UMLS:CN237489|Orphanet:420755														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN237489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080558	biolink:NamedThing			mondoexuq1wtf																														
DOID:676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565631	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111168	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044245	biolink:NamedThing	obsolete nailbeds, pigmentation of		mondoexuq1wtf	NAILBEDS, pigmentation OF					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:161100																		owl:Class
UMLS:C1834402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854336	biolink:NamedThing			mondoexuq1wtf																														
DOID:11934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154727008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238557	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196010000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193059005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271506002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155218001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041915	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64613007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4152002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267486007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226785	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000796	biolink:NamedThing	obsolete cow milk allergy	A allergy involving cow mile.	mondoexuq1wtf	cow milk allergy|cow milk based food product allergic disease|allergy of cow milk based food product|obsolete cow milk allergy (disease)|Bos taurus milk allergy	MONDO:outOfScope	obsolete cow milk allergy (disease)				HP:0100327			True		DOID:0060521														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92263001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90688005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266140	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186229002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717269008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154972009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115227001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193583005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98710	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019294	biolink:NamedThing			mondoexuq1wtf																														
MESH:D036821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617547	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39468009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334599	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614823	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161400	biolink:NamedThing			mondoexuq1wtf																														
DOID:2409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201818	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204309000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412747	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205832003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764703002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443719001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31653004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17385007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553728	biolink:NamedThing			mondoexuq1wtf																														
DOID:5699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186912008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346906	biolink:NamedThing			mondoexuq1wtf																														
DOID:6608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92633	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1608983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247367007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764456001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0239737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51247001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237511	biolink:NamedThing			mondoexuq1wtf																														
DOID:11976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16822006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035793	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325529	biolink:NamedThing			mondoexuq1wtf																														
DOID:11076	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310794	biolink:NamedThing			mondoexuq1wtf																														
DOID:2368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502369	biolink:NamedThing			mondoexuq1wtf																														
DOID:5390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345407	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35517	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0030965	biolink:NamedThing	obsolete olmsted syndrome 2		mondoexuq1wtf	OLMS2|olmsted syndrome 2|Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques 2	duplicate								True		OMIM:619208														https://github.com/monarch-initiative/mondo/pull/3056				owl:Class
MESH:C537128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715344006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29966009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193584004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3379	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400946004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196154008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84887	biolink:NamedThing			mondoexuq1wtf																														
DOID:13372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0078982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373621006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75610003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039106	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613811	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238012003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279690	biolink:NamedThing			mondoexuq1wtf																														
DOID:11814	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015870	biolink:NamedThing	obsolete rare malignant breast tumor	Any of the forms of breast cancer that have a rare incidence.	mondoexuq1wtf	rare breast cancer			MONDO:0007254			UMLS:C0678222|UMLS:C0006142			True		UMLS:CN200474|Orphanet:180257														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62621002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445237003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84761	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4482	biolink:NamedThing			mondoexuq1wtf																														
DOID:13037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402877008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156319000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684815	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018557	biolink:NamedThing	obsolete rare genetic autonomic nervous system disorder	Rare genetic autonomic nervous system disease.	mondoexuq1wtf	rare genetic autonomic nervous system disease			MONDO:0001292						True		UMLS:CN237558|Orphanet:434786														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/132000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193276002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398028009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128598002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126559003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3011	biolink:NamedThing			mondoexuq1wtf																														
DOID:2383	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015948	biolink:NamedThing	obsolete rare genetic skin vascular disorder		mondoexuq1wtf	genetic skin vascular disorder			MONDO:0000001						True		Orphanet:183478|UMLS:CN200545														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200545	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126538005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67171006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517579	biolink:NamedThing			mondoexuq1wtf																														
DOID:1869	biolink:NamedThing			mondoexuq1wtf																														
DOID:146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194953001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715337002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C65192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197663003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196988003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111524003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419076005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009901	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29120000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27462	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852278	biolink:NamedThing			mondoexuq1wtf																														
DOID:4347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10128002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78373000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0836924	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29608009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766977007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042384	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67139004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414628006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029516	biolink:NamedThing			mondoexuq1wtf																														
DOID:175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418470004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715219001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69996000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86981007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127027008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67924001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725590001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041322	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056959	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30913008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018412	biolink:NamedThing	obsolete rare female infertility due to adrenal disorder of genetic origin		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:400018|UMLS:CN227355														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:400018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:373	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006967	biolink:NamedThing	obsolete septic abortion		mondoexuq1wtf										True		MESH:D000031|MedDRA:10040056|EFO:1001177																		owl:Class
MEDDRA:10040056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363465007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202879008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329894	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000821	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:702381007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334108	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208989	biolink:NamedThing			mondoexuq1wtf																														
DOID:10182	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262923	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79674009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270491006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0862911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20756002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9478	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49601007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267261001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931417	biolink:NamedThing			mondoexuq1wtf																														
DOID:9080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83898004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763720007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54411001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194001006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34391	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2631	biolink:NamedThing			mondoexuq1wtf																														
DOID:14495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600089	biolink:NamedThing			mondoexuq1wtf																														
DOID:631	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538041	biolink:NamedThing			mondoexuq1wtf																														
DOID:3192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206012	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113824	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002636	biolink:NamedThing			mondoexuq1wtf																														
DOID:10337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472786	biolink:NamedThing			mondoexuq1wtf																														
DOID:4706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5547	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720189	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015370	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0060091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614375	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307649006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0728895	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206725	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99748	biolink:NamedThing			mondoexuq1wtf																														
DOID:12053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678047	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765331004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194975004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3944006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721297008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719947004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192014006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717258005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111568001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:487825	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402417009	biolink:NamedThing			mondoexuq1wtf																														
DOID:7280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1623000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363472008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020545	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020262	biolink:NamedThing	obsolete nervous system anomaly with eye involvement		mondoexuq1wtf										True		Orphanet:98692																		owl:Class
ORPHA:98692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207337	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240613006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8252	biolink:NamedThing			mondoexuq1wtf																														
DOID:4681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231568	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016863	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018290	biolink:NamedThing	obsolete congenital disorder of glycosylation with cardiac malformation as a major feature		mondoexuq1wtf	CDG with cardiac malformation as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371183														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
ORPHA:371183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93877002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763400005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564430	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230312006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39905002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016232	biolink:NamedThing	obsolete rare venous malformation		mondoexuq1wtf		MONDO:outOfScope				Editor note: check this	UMLS:C0265950|MedDRA:10025532|ICD10:Q27.8|UMLS:C2937220			True		Orphanet:211252														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:211252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007786	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012295	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070219	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254892	biolink:NamedThing			mondoexuq1wtf																														
DOID:10612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186987005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111307005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254279009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110286	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33313004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82049002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0862887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24084007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27201004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613211	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265140	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006707	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:46888001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92784007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745963	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9713002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202422006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836757	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34952	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111229	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27234	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27404	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363360003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269549003	biolink:NamedThing			mondoexuq1wtf																														
DOID:423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839332	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153844	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4288	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675482	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367427004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363443007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703254001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN492437	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000430	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565624	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156371008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12622007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69008006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060756	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2348	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614655	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1883486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35062009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719136005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197137007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75381	biolink:NamedThing			mondoexuq1wtf																														
DOID:6917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1883485	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601349	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124473006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9311003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614211	biolink:NamedThing			mondoexuq1wtf																														
DOID:7953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67685000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18121009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016627	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000911	biolink:NamedThing	obsolete dilated cardiomyopathy 1T	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene.	mondoexuq1wtf	TMPO familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, type 1T|moved to 115200|CMD1T|cardiomyopathy, dilated, 1T					OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists.				True		DOID:0110452|OMIM:613740|UMLS:C3151039|MESH:C566052														https://github.com/monarch-initiative/mondo/issues/1675				owl:Class
http://identifiers.org/omim/613740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98275	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40100001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333591	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155741005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314404	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932715	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020187	biolink:NamedThing			mondoexuq1wtf																														
DOID:11213	biolink:NamedThing			mondoexuq1wtf																														
DOID:12883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834919	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284130	biolink:NamedThing			mondoexuq1wtf																														
DOID:2092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329481	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253070006	biolink:NamedThing			mondoexuq1wtf																														
DOID:14693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254184006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432373	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579880	biolink:NamedThing			mondoexuq1wtf																														
DOID:3109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93559003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238016	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193050	biolink:NamedThing			mondoexuq1wtf																														
DOID:603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72922008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50927007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267693003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:321258009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69927002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4321305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205494006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013132	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0054749	biolink:NamedThing	obsolete body mass index quantitative trait locus 19		mondoexuq1wtf	body MASS index quantitative trait locus 19|BMIQ19|obesity, Susceptibility to									True		OMIM:617885																		owl:Class
http://identifiers.org/omim/617885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030920	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194367003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334642	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614408	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090027	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280220	biolink:NamedThing			mondoexuq1wtf																														
DOID:2926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360792001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6086	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:609	biolink:NamedThing			mondoexuq1wtf																														
DOID:6925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154276	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:252246005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50440006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003664	biolink:NamedThing			mondoexuq1wtf																														
DOID:2097	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418040002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254051008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189773000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230552007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27871	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015076	biolink:NamedThing	obsolete rare parathyroid tumor	Any of the forms of tumor of parathyroid gland that have a rare incidence.	mondoexuq1wtf	rare tumor of parathyroid gland			MONDO:0021360			ICD10:D35.1|ICD10:C75.0|UMLS:C0030521|ICD10:D44.2			True		Orphanet:100090														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C536074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195785003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56294008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75460	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47620003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200913007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725415009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3472	biolink:NamedThing			mondoexuq1wtf																														
DOID:9957	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432548	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6542	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34675	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535921	biolink:NamedThing			mondoexuq1wtf																														
DOID:2219	biolink:NamedThing			mondoexuq1wtf																														
DOID:3687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238055004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126962006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537747	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841651	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019304	biolink:NamedThing	obsolete rare photodermatosis		mondoexuq1wtf	rare skin photosensitivity	MONDO:outOfScope								True		Orphanet:79390|UMLS:C0920193														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:267567001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149287	biolink:NamedThing			mondoexuq1wtf																														
DOID:14503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809706	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536157	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273669	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191242004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023539	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:CN036342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700110	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832589	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263756	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156911006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723622007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205543002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5342	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018299	biolink:NamedThing	obsolete sphingolipidosis with epilepsy		mondoexuq1wtf										True		Orphanet:371442																		owl:Class
ORPHA:371442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309084001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0043606	biolink:NamedThing	obsolete pathologic fracture	A traumatic break in an area of bone that has been weakened by another disease process.	mondoexuq1wtf	fracture, pathological|spontaneous fractures|pathological fractures|fracture, pathologic|pathologic fractures|pathologic fracture|spontaneous fracture|pathological fracture|fracture, spontaneous|fractures, pathologic|fractures, pathological			HP:0002756		This was obsoleted because it is a phenotype and not a disease.				True		NCIT:C3047|SCTID:268029009|MESH:D005598														https://github.com/monarch-initiative/mondo/issues/499				owl:Class
UMLS:C0016663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99750	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004916	biolink:NamedThing			mondoexuq1wtf																														
DOID:4223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702442008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448216007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1417263	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208596	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302856006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931410	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4855	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197315008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721882001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49432002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135500	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021236	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/235760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195595007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721617001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5158	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342418	biolink:NamedThing			mondoexuq1wtf																														
DOID:8925	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43878008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196981009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716662004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432037	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020004	biolink:NamedThing	obsolete rare eye disease	Rare eye disease.	mondoexuq1wtf	rare eye disease			MONDO:0005328						True		UMLS:CN206937|Orphanet:97966														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:97966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192746000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266898	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386701004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154414008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613951	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060710	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319698	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122805	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163622	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0028742	biolink:NamedThing	obsolete dysostosis with brachydactyly without extraskeletal manifestations		mondoexuq1wtf										True		Orphanet:498451																		owl:Class
UMLS:C1857197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230090	biolink:NamedThing			mondoexuq1wtf																														
DOID:3413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567741	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14783006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766766005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154538005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4753	biolink:NamedThing			mondoexuq1wtf																														
DOID:384	biolink:NamedThing			mondoexuq1wtf																														
DOID:12573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203259	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196465007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732261005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726345000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237933007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269546005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419074008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155418003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3872845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189268005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702416008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135993	biolink:NamedThing			mondoexuq1wtf																														
DOID:614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33793000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153615	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204972	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50715003	biolink:NamedThing			mondoexuq1wtf																														
DOID:6945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614670	biolink:NamedThing			mondoexuq1wtf																														
DOID:13444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89369001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234135008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751602	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018922	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8717	biolink:NamedThing			mondoexuq1wtf																														
DOID:3078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68784009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203908009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268313009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764955006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711750	biolink:NamedThing			mondoexuq1wtf																														
DOID:12849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64431000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332552	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404076001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34889	biolink:NamedThing			mondoexuq1wtf																														
DOID:4449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155165000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197487009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75480	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:147966005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861171	biolink:NamedThing			mondoexuq1wtf																														
DOID:5241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266396008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716722005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251800	biolink:NamedThing			mondoexuq1wtf																														
DOID:11612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3760	biolink:NamedThing			mondoexuq1wtf																														
DOID:3497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1378050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192807008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457334	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194405007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5418	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537153	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567646	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851967	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:244310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401945	biolink:NamedThing			mondoexuq1wtf																														
DOID:11558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233763009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3642	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018798	biolink:NamedThing	obsolete other genetic dermis disorder		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider obsoleting				True		UMLS:CN776936|Orphanet:477808														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN776936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54696002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611556	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733628001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188202001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37864	biolink:NamedThing			mondoexuq1wtf																														
DOID:10140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266039	biolink:NamedThing			mondoexuq1wtf																														
DOID:12165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155140	biolink:NamedThing			mondoexuq1wtf																														
DOID:8574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194814006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158316004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275592	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73224	biolink:NamedThing			mondoexuq1wtf																														
DOID:6755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456165	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017085	biolink:NamedThing	obsolete malformation of the neurenteric canal, spinal cord and column		mondoexuq1wtf										True		Orphanet:268843																		owl:Class
UMLS:C0024441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192622000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398102009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6925	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319319	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018396	biolink:NamedThing	obsolete rare male fertility disorder with obstructive azoospermia		mondoexuq1wtf	rare disorder with obstructive azoospermia|rare disorder due to impaired sperm transport	MONDO:outOfScope								True		Orphanet:399824|UMLS:CN227342														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:C0275715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203526003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109372009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23782005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238836000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715474004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201062	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334371	biolink:NamedThing			mondoexuq1wtf																														
DOID:3762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193332006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1627767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8810	biolink:NamedThing			mondoexuq1wtf																														
DOID:7986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295030	biolink:NamedThing			mondoexuq1wtf																														
DOID:2736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187488001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608035	biolink:NamedThing			mondoexuq1wtf																														
DOID:12145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34486009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611523	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563456	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931487	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141118	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266665005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565271	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567809	biolink:NamedThing			mondoexuq1wtf																														
DOID:9742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8933000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191036006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155847001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155210008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187476003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190520005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156190	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537986	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155253008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60193003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042425	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601228	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403946000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93966009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006556	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930990	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022728	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MONDO:0009651	biolink:NamedThing	obsolete pseudo-Hurler polydystrophy		mondoexuq1wtf				MONDO:0018931						True																				owl:Class
ORPHA:77243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79132	biolink:NamedThing			mondoexuq1wtf																														
DOID:10428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207750	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52403007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1828066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718053009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763527007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29524003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044252	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in, 6		mondoexuq1wtf	skin/hair/eye pigmentation 6, Blond/Brown hair|skin/hair/eye pigmentation 6, blue/Green eyes|SHEP6|skin/hair/eye pigmentation, variation IN, 6					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:210750																		owl:Class
UMLS:C2673866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87121	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604499	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1458139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238653005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616568	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567228	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603285	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111057	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564377	biolink:NamedThing			mondoexuq1wtf																														
DOID:1623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154924008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277032	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044247	biolink:NamedThing	obsolete palmomental reflex		mondoexuq1wtf	PALMOMENTAL reflex					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:167700																		owl:Class
http://identifiers.org/omim/167700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196752002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202847004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129728	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268185002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332973	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020742	biolink:NamedThing	obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome		mondoexuq1wtf	CAMFAK syndrome|cataract, microcephaly, arthrogryposis, kyphosis syndrome|CAMAK syndrome|cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome|cataract-microcephaly-failure to thrive-kyphoscoliosis			MONDO:0008926		See https://github.com/monarch-initiative/mondo/issues/763				True		Orphanet:1317|OMIM:212540|MESH:C537965|GARD:0001060														https://rarediseases.info.nih.gov/diseases/1060/cataract-microcephaly-failure-to-thrive-kyphoscoliosis				owl:Class
http://identifiers.org/omim/212540	biolink:NamedThing			mondoexuq1wtf																														
DOID:6458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78166003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78940002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565833	biolink:NamedThing			mondoexuq1wtf																														
DOID:4884	biolink:NamedThing			mondoexuq1wtf																														
DOID:10869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92415001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205481009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35600002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415365	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5453	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008363	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92337009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197998003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237788002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015576	biolink:NamedThing	obsolete rare viral disease	Rare viral disease.	mondoexuq1wtf	rare viral infectious disease|rare viral disease			MONDO:0005108			UMLS:C0042769|UMLS:C0042740			True		UMLS:CN199939|Orphanet:163585														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN199939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271900	biolink:NamedThing			mondoexuq1wtf																														
DOID:4829	biolink:NamedThing			mondoexuq1wtf																														
DOID:12166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617916	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716649003	biolink:NamedThing			mondoexuq1wtf																														
DOID:294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398733	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193265001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269646001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715201005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238029	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277701	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129741	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15545001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134323003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849721	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156428000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66038001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8792	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017674	biolink:NamedThing	obsolete disease with focal palmoplantar keratoderma as a major feature	A disease in which focal palmoplantar keratoderma is a major feature..	mondoexuq1wtf	disease with focal palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope					ICD10:Q82.8			True		Orphanet:307871|UMLS:CN203558														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:307871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128628002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719297006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97598	biolink:NamedThing			mondoexuq1wtf																														
DOID:2846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363510005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84552	biolink:NamedThing			mondoexuq1wtf																														
DOID:1455	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253232000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266029	biolink:NamedThing			mondoexuq1wtf																														
DOID:10573	biolink:NamedThing			mondoexuq1wtf																														
DOID:7585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719845008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93843007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719208005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162539	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96716	biolink:NamedThing			mondoexuq1wtf																														
DOID:13186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334210	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158040	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537660	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614822	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111323	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188174005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190942001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3619	biolink:NamedThing			mondoexuq1wtf																														
DOID:1876	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766708008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201192006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719019000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333082	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232342002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567575	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070129	biolink:NamedThing			mondoexuq1wtf																														
DOID:5602	biolink:NamedThing			mondoexuq1wtf																														
DOID:7540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201095006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:200421	biolink:NamedThing			mondoexuq1wtf																														
DOID:65	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110240	biolink:NamedThing			mondoexuq1wtf																														
DOID:14464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5718	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87072	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021255	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C3888924	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304606004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139455	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859298	biolink:NamedThing			mondoexuq1wtf																														
DOID:8991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277597005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307652003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74851005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016138	biolink:NamedThing	obsolete malignant lymphoma with peripheral neuropathy		mondoexuq1wtf										True		Orphanet:207046																		owl:Class
SNOMEDCT:194887007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236763001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240063002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201061007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201130000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1073003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725591002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565456	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54203008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269860	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118865	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:762295002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699315005	biolink:NamedThing			mondoexuq1wtf																														
DOID:663	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191567000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74797001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99994	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205730	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126896003	biolink:NamedThing			mondoexuq1wtf																														
DOID:535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:927	biolink:NamedThing			mondoexuq1wtf																														
DOID:4061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262698	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060238	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273968	biolink:NamedThing			mondoexuq1wtf																														
DOID:3073	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015949	biolink:NamedThing	obsolete rare genetic subcutaneous tissue disorder		mondoexuq1wtf	genetic subcutaneous tissue disorder			MONDO:0000001						True		Orphanet:183484|UMLS:CN200546														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226903	biolink:NamedThing			mondoexuq1wtf																														
DOID:7089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751084	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155822003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197489007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91242000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614678	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044260	biolink:NamedThing	obsolete ec1		mondoexuq1wtf	EC1|natural Killer cell susceptibility 1|susceptibility to lysis by ALLOREACTIVE natural KILLER cells					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:7832																		owl:Class
UMLS:C1848953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4078288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034091	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:250978003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4662	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085404	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843042	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1413542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77835008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174770	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333985	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C170436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN802781	biolink:NamedThing			mondoexuq1wtf																														
DOID:9861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391381	biolink:NamedThing			mondoexuq1wtf																														
DOID:184	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194239009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0239849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535932	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024796	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566566	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015511	biolink:NamedThing	obsolete rare genetic urogenital disease		mondoexuq1wtf				MONDO:0021145						True		Orphanet:156619|UMLS:CN199644														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN199644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228355	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1319317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118847	biolink:NamedThing			mondoexuq1wtf																														
DOID:9512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221745	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195649005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389145006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153386	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715753001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393578000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564035	biolink:NamedThing			mondoexuq1wtf																														
DOID:13902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566429	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230374002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764525006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519851	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447785000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88918	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197480006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152423	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023449	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66634	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240517002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2063331	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198003003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187486002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206686	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88393000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205260006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443502000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718765003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721007005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538194	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111468	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016234	biolink:NamedThing	obsolete rare arteriovenous malformation	Rare arteriovenous malformation.	mondoexuq1wtf	rare arteriovenous hemangioma/malformation|rare arteriovenous malformation			MONDO:0001256			MedDRA:10003193|UMLS:C0003857|ICD10:Q27.3|UMLS:C0334533|MESH:D001165			True		Orphanet:211266|UMLS:CN226888														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226888	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053684	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26037005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563506	biolink:NamedThing			mondoexuq1wtf																														
DOID:2481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62857009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80046004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719097002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349231	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111329	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001494	biolink:NamedThing	obsolete transvestism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing.	mondoexuq1wtf	Transvestic fetishism|dual-role transvestism|cross dresser									True		ICD9:302.3|MESH:D014190|ICD10:F65.1|ICD10:F64.1|NCIT:C94359|UMLS:C0040774|SCTID:472981000|DOID:1233																		owl:Class
SNOMEDCT:472989003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205479007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359834003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2610009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123434	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970035	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538130	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044275	biolink:NamedThing	obsolete carotid intimal medial thickness 1		mondoexuq1wtf	Cimt1|intimal medial thickness of internal carotid artery|carotid intimal medial thickness 1					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:609338																		owl:Class
UMLS:C1836302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718216009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91139	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187679004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86927009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017371	biolink:NamedThing	obsolete rare head and neck tumor	Rare head and neck neoplasia.	mondoexuq1wtf	rare head and neck neoplasia|rare head and neck neoplasm			MONDO:0005586			UMLS:C0018671			True		Orphanet:290849														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0339543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748830	biolink:NamedThing			mondoexuq1wtf																														
DOID:3136	biolink:NamedThing			mondoexuq1wtf																														
DOID:162	biolink:NamedThing			mondoexuq1wtf																														
DOID:2247	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000848	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1744705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C172705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154254	biolink:NamedThing			mondoexuq1wtf																														
DOID:628	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268766005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608443	biolink:NamedThing			mondoexuq1wtf																														
DOID:7646	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017661	biolink:NamedThing	obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN203548|Orphanet:307055														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:99045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400140006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19968009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834340	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566623	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345557	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016623	biolink:NamedThing	obsolete rare deficiency anemia	Any of the forms of deficiency anemia that have a rare incidence.	mondoexuq1wtf	rare deficiency anemia			MONDO:0001639			UMLS:C0041782			True		Orphanet:248293														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:210110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69339004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711162004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240885009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020529	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204310005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155150001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194008000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719213009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020523	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234397008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448251	biolink:NamedThing			mondoexuq1wtf																														
DOID:3448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92568009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131849	biolink:NamedThing			mondoexuq1wtf																														
DOID:11831	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372938004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535854	biolink:NamedThing			mondoexuq1wtf																														
DOID:11722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267498002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53482	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070074	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111536	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197979000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198114003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36813001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93818001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95663000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004036	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:275786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:455	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229259	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720413004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67531005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234978	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98942	biolink:NamedThing			mondoexuq1wtf																														
DOID:12205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189866002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14251	biolink:NamedThing			mondoexuq1wtf																														
DOID:11168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349653	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020035	biolink:NamedThing	obsolete rare otorhinolaryngologic tumor		mondoexuq1wtf	rare ORL tumor|rare ORL cancer|rare ORL neoplasm	MONDO:outOfScope								True		UMLS:CN206960|Orphanet:98061														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204685004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399114005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537943	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842550	biolink:NamedThing			mondoexuq1wtf																														
DOID:5850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031212	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732956000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8234004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1538742	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713392	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060227	biolink:NamedThing			mondoexuq1wtf																														
DOID:224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187337003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193439003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237962008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230261006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58872001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225220	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538167	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_inheritance_inconsistent	biolink:NamedThing			mondoexuq1wtf						classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406																								owl:AnnotationProperty
NCIT:C6910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39288006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155118006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0598608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30508001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156218	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150773	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7453	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190123001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55004003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050623	biolink:NamedThing			mondoexuq1wtf																														
DOID:14778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187724003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27718001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206624	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604401	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66758	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200914001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190683000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188270008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020626	biolink:NamedThing	obsolete yt blood group antigen		mondoexuq1wtf	YT BLOOD GROUP ANTIGEN|Cartwright Antigen									True		OMIM:112100																		owl:Class
UMLS:C1862189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312898002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57019003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338575	biolink:NamedThing			mondoexuq1wtf																														
DOID:3159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109433009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2863	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4108	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204017003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24412005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:342553006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715770009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312216007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53926002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2020284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157033002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187316006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280355	biolink:NamedThing			mondoexuq1wtf																														
DOID:8920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414952002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233703007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1168	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002026	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563752	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45170000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190757002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96193	biolink:NamedThing			mondoexuq1wtf																														
DOID:14523	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080286	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015332	biolink:NamedThing	obsolete rare developmental defect with connective tissue involvement		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:139030|UMLS:CN199362														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C5907	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014858	biolink:NamedThing			mondoexuq1wtf																														
DOID:5533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230454005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33659008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006456	biolink:NamedThing			mondoexuq1wtf																														
DOID:13306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN881103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98563	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267725	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008340	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608980	biolink:NamedThing			mondoexuq1wtf																														
DOID:4188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1561	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050487	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229850	biolink:NamedThing			mondoexuq1wtf																														
DOID:2455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196344002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187915001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33410002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55551005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400099008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19829001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51476001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51549004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267875002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367449005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28826002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27837003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39273001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357220	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1713	biolink:NamedThing			mondoexuq1wtf																														
DOID:560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725079003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240372001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124257002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6716	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567639	biolink:NamedThing			mondoexuq1wtf																														
DOID:5453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371409005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715409005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267763004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840385	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000575	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/232400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3482	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269530002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190918000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23063005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567231	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251919	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133729	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060561	biolink:NamedThing			mondoexuq1wtf																														
DOID:736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617123	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055882	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058497	biolink:NamedThing			mondoexuq1wtf																														
DOID:9948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334579	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197900000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234110002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5528	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000568	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607488	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563354	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45431004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187607001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:394529	biolink:NamedThing			mondoexuq1wtf																														
DOID:13295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75545	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015184	biolink:NamedThing	obsolete rare disease involving intestinal motility		mondoexuq1wtf	rare genetic intestinal motility disease			MONDO:0021189						True		Orphanet:104009|UMLS:CN226620														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:104009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201177005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73856006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038358	biolink:NamedThing			mondoexuq1wtf																														
DOID:5714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233982006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444374006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126960003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4051	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3621	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010608	biolink:NamedThing			mondoexuq1wtf																														
DOID:3904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190089002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004364	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600908	biolink:NamedThing			mondoexuq1wtf																														
DOID:14037	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718909001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193433002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415116008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2062367	biolink:NamedThing			mondoexuq1wtf																														
DOID:5254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2349952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63844009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36799008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2973527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7421	biolink:NamedThing			mondoexuq1wtf																														
DOID:3368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280803	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6982	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187692001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878675	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008047	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86628002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186959001	biolink:NamedThing			mondoexuq1wtf																														
DOID:37	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284149	biolink:NamedThing			mondoexuq1wtf																														
DOID:5576	biolink:NamedThing			mondoexuq1wtf																														
DOID:4230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154314007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930971	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206611	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842039	biolink:NamedThing			mondoexuq1wtf																														
DOID:7826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715801001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835398	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563177	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044220	biolink:NamedThing	obsolete blood group, 1 system		mondoexuq1wtf	II blood Group system|I blood Group system|II|adult I phenotype|blood group, I system					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:110800																		owl:Class
UMLS:C1292164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5217008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190969000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154305002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809753	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85227	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155393	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050132	biolink:NamedThing			mondoexuq1wtf																														
DOID:3755	biolink:NamedThing			mondoexuq1wtf																														
DOID:14179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725047007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397356009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230438007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102620007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310810	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C164226	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930806	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58864003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205684007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494949	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716712004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28557005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155408008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4521678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82473003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204545	biolink:NamedThing			mondoexuq1wtf																														
DOID:11133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267492001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50364008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34956	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610539	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:382	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565234	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93809003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266434009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676837	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537201	biolink:NamedThing			mondoexuq1wtf																														
DOID:2871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268353	biolink:NamedThing			mondoexuq1wtf																														
DOID:4207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232003005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194441007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:416	biolink:NamedThing			mondoexuq1wtf																														
DOID:3696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187498007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187037006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128329001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007775	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6996004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765146000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616924	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564469	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188574000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155830002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254897006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88151007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42872003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2829267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359799003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76886005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195759002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31273004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196166002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10460	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424279009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416265003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5635	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717823001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13045009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52039009	biolink:NamedThing			mondoexuq1wtf																														
DOID:314	biolink:NamedThing			mondoexuq1wtf																														
DOID:11199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536683	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567296	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C152064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835922	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191755004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187775000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216986	biolink:NamedThing			mondoexuq1wtf																														
DOID:9773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68528007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62588002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360427001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25169009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85649008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017663	biolink:NamedThing	obsolete inherited tremor disorder		mondoexuq1wtf	rare genetic myoclonus	out of scope					MONDO:0005395			True		UMLS:CN227173|UMLS:CN227174|Orphanet:307064|Orphanet:307061														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:307064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718754008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703523004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88348008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57546000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606183	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19168005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936783	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202323002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403559	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277577000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204961	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70195006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254076009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190827003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308879003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060744	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016135	biolink:NamedThing	obsolete rare hereditary neurologic disease with peripheral neuropathy		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200899|Orphanet:207025														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C82884	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015838	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24482001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50921008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73247	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206679	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3873472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11890005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616044	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715654001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201710	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070216	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12215009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268753005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703544004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186243007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48210000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717731002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21109002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265267	biolink:NamedThing			mondoexuq1wtf																														
DOID:13341	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110865	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610551	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554599	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12402003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602531	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864904	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21589007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424114000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340035	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52832001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:395649008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C110942	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014525	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015121	biolink:NamedThing	obsolete rare eye tumor	Any of the forms of eye neoplasm that have a rare incidence.	mondoexuq1wtf	rare eye neoplasm			MONDO:0021220			UMLS:C0015414			True		Orphanet:101950														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:169826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608091	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001935	biolink:NamedThing			mondoexuq1wtf																														
DOID:687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272797	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158280	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333572	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404089007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37151006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205574000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389995008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237574003	biolink:NamedThing			mondoexuq1wtf																														
DOID:8955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277844007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207224	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609915	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81308009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95691008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77592001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537411	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44292004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186995009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5201	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192689006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764960005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60812006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014424	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277507004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015224	biolink:NamedThing	obsolete rare intoxication	Any of the forms of poisoning that have a rare incidence.	mondoexuq1wtf	rare poisoning			MONDO:0029000		Editor note: consider obsoleting				True		UMLS:CN226640|Orphanet:108999														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:108999	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004941	biolink:NamedThing			mondoexuq1wtf																														
DOID:2229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060569	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186407003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3241958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254464000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100080	biolink:NamedThing			mondoexuq1wtf																														
DOID:5810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:509	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044272	biolink:NamedThing	obsolete body mass index quantitative trait locus 9		mondoexuq1wtf	obesity, susceptibility to|BMIQ9|body MASS index quantitative trait locus 9					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:602025																		owl:Class
UMLS:C2677162	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565553	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363432004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717329009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601539	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C175582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014065	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065156	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240454008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193763007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857800	biolink:NamedThing			mondoexuq1wtf																														
DOID:3878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302835009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86789	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192922002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17818006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189578007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190254005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205801004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1621920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1395264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676484	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618142	biolink:NamedThing			mondoexuq1wtf																														
DOID:9735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2985290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154413002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936909	biolink:NamedThing			mondoexuq1wtf																														
DOID:4808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332316	biolink:NamedThing			mondoexuq1wtf																														
DOID:12735	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618741	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193987003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602401	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017130	biolink:NamedThing	obsolete genetic urogenital tumor		mondoexuq1wtf										True		Orphanet:271844																		owl:Class
UMLS:C0345804	biolink:NamedThing			mondoexuq1wtf																														
DOID:11486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:737581000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70143003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265761	biolink:NamedThing			mondoexuq1wtf																														
DOID:4890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931076	biolink:NamedThing			mondoexuq1wtf																														
DOID:9722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4416007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810138	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C86917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155120009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310935	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95643007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111939009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1218009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192469003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2266788	biolink:NamedThing			mondoexuq1wtf																														
DOID:11613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194075001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190160002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702355008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266367007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67172004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612580	biolink:NamedThing			mondoexuq1wtf																														
DOID:3142	biolink:NamedThing			mondoexuq1wtf																														
DOID:5556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:122711000119109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79127	biolink:NamedThing			mondoexuq1wtf																														
DOID:7936	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93108	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92691004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41446000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10679007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139439007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0598428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033847	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254998002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1667	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018236	biolink:NamedThing	obsolete dysostosis with limb and face anomalies as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:364571														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:276223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851184	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90658	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566821	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352596	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266581008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194173005	biolink:NamedThing			mondoexuq1wtf																														
DOID:9281	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014581	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334660	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110426	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020025	biolink:NamedThing	obsolete rare male infertility	Rare male infertility.	mondoexuq1wtf	rare male infertility			MONDO:0005372			UMLS:C0021364			True		Orphanet:98048														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98048	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9301	biolink:NamedThing			mondoexuq1wtf																														
DOID:8211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291264	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205419	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79473	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203056001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477768	biolink:NamedThing			mondoexuq1wtf																														
DOID:4662	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764858009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254627002	biolink:NamedThing			mondoexuq1wtf																														
DOID:934	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110933	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851111	biolink:NamedThing			mondoexuq1wtf																														
DOID:4797	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234587000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62950007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201067	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43424001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187005005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92749008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3135009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26856	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238902	biolink:NamedThing			mondoexuq1wtf																														
DOID:7611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0231330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237674	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020152	biolink:NamedThing	obsolete rare eyelid malformation		mondoexuq1wtf	eyelid malformation	MONDO:outOfScope								True		Orphanet:98561														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98561	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003554	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024583	biolink:NamedThing	obsolete hernia	The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.	mondoexuq1wtf	hernias|enterocele					Represents finding.	HP:0100790			True		ICD10:K40.K46|MESH:D006547|NCIT:C34685														https://github.com/monarch-initiative/mondo/issues/1777				owl:Class
UMLS:C0019270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42456004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190955000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614876	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016263	biolink:NamedThing			mondoexuq1wtf																														
DOID:12465	biolink:NamedThing			mondoexuq1wtf																														
DOID:5149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187178006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060771	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2333	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020767	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278524008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609464	biolink:NamedThing			mondoexuq1wtf																														
DOID:9741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238735005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2511001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34545	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702445005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968740	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722290008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281201	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060177	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004056	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59742009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352734	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058456	biolink:NamedThing			mondoexuq1wtf																														
DOID:13825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186290009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718579008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226313	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312214005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274864009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267750005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207182009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618343	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367462009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748435	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715441004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677787	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862937	biolink:NamedThing			mondoexuq1wtf																														
DOID:3263	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3055	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844853	biolink:NamedThing			mondoexuq1wtf																														
DOID:1670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402693001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26894	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280730	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86869	biolink:NamedThing			mondoexuq1wtf																														
DOID:4432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178148	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3077	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007673	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110997000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022921	biolink:NamedThing	obsolete short stature-microcephaly-heart defect syndrome		mondoexuq1wtf	d'ercole syndrome|short stature microcephaly heart defect			Orphanet:98464		Editor note: obsolete in ORDO yet not obsolete in main orphanet website [2018-01-09]				True		GARD:0000233																		owl:Class
ORPHA:2861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128870005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113814	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047650	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024384	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:96129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281247	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254861002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1882	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006954	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553414	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269610005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707373004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617303	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721779001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:253	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037899	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193093009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254838004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267723000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536571	biolink:NamedThing			mondoexuq1wtf																														
DOID:3923	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016633	biolink:NamedThing	obsolete thrombotic disorder due to a constitutional coagulation factors defect		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:248361|UMLS:CN226983														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN226983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399526	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019987	biolink:NamedThing	obsolete congenital and infantile nephrotic syndrome		mondoexuq1wtf										True		Orphanet:97556																		owl:Class
MESH:C564764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154898	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16253001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848912	biolink:NamedThing			mondoexuq1wtf																														
DOID:5262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931819	biolink:NamedThing			mondoexuq1wtf																														
DOID:8601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155291	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190234009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1509147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614237	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057926	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617239	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185500	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024624	biolink:NamedThing	obsolete atrophy of lacrimal gland	A degenerative disorder that involves the lacrimal gland.	mondoexuq1wtf	degenerative disorder of lacrimal gland|atrophy of lacrimal gland|lacrimal atrophy|lacrimal gland degenerative disorder					This is not a true disease, more of a phenotype or process.				True		SCTID:91951001|UMLS:C0339119														https://github.com/monarch-initiative/mondo/issues/2312				owl:Class
SNOMEDCT:91951001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448476001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253143001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9520006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41788008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80846000	biolink:NamedThing			mondoexuq1wtf																														
DOID:7928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567435	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018505	biolink:NamedThing	obsolete rare tumor of small intestine	Any of the forms of small intestine neoplasm that have a rare incidence.	mondoexuq1wtf	rare tumor of small bowel|rare small intestine neoplasm			MONDO:0004251						True		Orphanet:423793|UMLS:CN237510														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:423793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47916000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191734001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69627004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019681	biolink:NamedThing			mondoexuq1wtf																														
DOID:11713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:8	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189890001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254732008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393606005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237684005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255081007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564384	biolink:NamedThing			mondoexuq1wtf																														
DOID:633	biolink:NamedThing			mondoexuq1wtf																														
DOID:10699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266361008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34587	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060391	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334645	biolink:NamedThing			mondoexuq1wtf																														
DOID:12662	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070314	biolink:NamedThing			mondoexuq1wtf																														
DOID:10205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266411	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#metaclass	biolink:NamedThing			mondoexuq1wtf						A grouping of disease classes. Should be excluded from analysis																								owl:AnnotationProperty
UMLS:C3280392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861537	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007873	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:103691009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3381	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203988006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111323005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149117	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768935003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46804001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35790	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564268	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001396	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255028004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311262	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204235	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240557004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014507	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198020004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235796008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266301006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154836001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86203003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231169	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196642007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430751001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312418006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192789001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225157	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28073009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194638007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044223	biolink:NamedThing	obsolete radin blood group antigen		mondoexuq1wtf	RADIN blood group antigen|blood Group--Radin antigen|RD					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:111620																		owl:Class
http://identifiers.org/omim/111620	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000791	biolink:NamedThing	obsolete carp allergy	A allergy involving a Cyprinus carpio.	mondoexuq1wtf	Cyprinus carpio allergic disease|allergy of Cyprinus carpio|Cyprinus carpio caused allergic disease|Cyprinus carpio fish allergy	MONDO:outOfScope								True		DOID:0060516														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060516	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4503	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053249	biolink:NamedThing			mondoexuq1wtf																														
DOID:4471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363505006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254065005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768555009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205631	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101435	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123329	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020522	biolink:NamedThing			mondoexuq1wtf																														
DOID:1056	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2162	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015575	biolink:NamedThing	obsolete rare bacterial infectious disease	Rare bacterial infectious disease.	mondoexuq1wtf	rare bacterial infectious disease			MONDO:0005113			UMLS:C0004623			True		Orphanet:163582														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/146000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87429008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN706304	biolink:NamedThing			mondoexuq1wtf																														
DOID:6004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444911000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722378009	biolink:NamedThing			mondoexuq1wtf																														
DOID:9778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189786009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5826	biolink:NamedThing			mondoexuq1wtf																														
DOID:1398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2020	biolink:NamedThing			mondoexuq1wtf																														
DOID:234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:472822008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614052	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019183	biolink:NamedThing	obsolete inherited odontologic disease		mondoexuq1wtf		out of scope					MONDO:0006999			True		UMLS:CN205756|Orphanet:77830														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456				owl:Class
NCIT:C8778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319199	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86610004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85102008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716098006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1698767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719212004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194796000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060255	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151460	biolink:NamedThing			mondoexuq1wtf																														
DOID:9063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76817009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015897	biolink:NamedThing	obsolete rare hyperparathyroidism	Rare hyperparathyroidism.	mondoexuq1wtf	rare hyperparathyroidism			MONDO:0001741			UMLS:C0020502|ICD10:E21.3|ICD10:E21.2|ICD10:E21.1|ICD10:E21.0			True		Orphanet:181408														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:181408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96125	biolink:NamedThing			mondoexuq1wtf																														
DOID:8051	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400201008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34823	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414673004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834819	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110051	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130998	biolink:NamedThing			mondoexuq1wtf																														
DOID:10937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27351	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79483	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110235	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237092002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55341008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84760	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6595006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154522004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050487	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020141	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129830	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423607006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539839	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:366261005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84686	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344976	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196332000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716387004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408663001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33839006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3647449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850992	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536837	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92697000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22217002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267383000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237491	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011905	biolink:NamedThing	obsolete familial hypercholanemia		mondoexuq1wtf				MONDO:0031446						True																https://github.com/monarch-initiative/mondo/issues/2940				owl:Class
UMLS:C4225393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749604	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724385009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156423009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28978003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84245004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968897	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71322004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155122001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2662	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850076	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410226	biolink:NamedThing			mondoexuq1wtf																														
DOID:4921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267480	biolink:NamedThing			mondoexuq1wtf																														
DOID:5403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268312	biolink:NamedThing			mondoexuq1wtf																														
DOID:14006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239832006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1739384	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002448	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619259	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018159	biolink:NamedThing			mondoexuq1wtf																														
DOID:5117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566419	biolink:NamedThing			mondoexuq1wtf																														
DOID:4784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157843	biolink:NamedThing			mondoexuq1wtf																														
DOID:11758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2364	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96407	biolink:NamedThing			mondoexuq1wtf																														
DOID:13352	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84940	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016632	biolink:NamedThing	obsolete thrombotic disorder due to a coagulation factors defect		mondoexuq1wtf		out of scope					MONDO:0000831			True		Orphanet:248358|UMLS:CN226982														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:96369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014261	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932680	biolink:NamedThing			mondoexuq1wtf																														
DOID:5519	biolink:NamedThing			mondoexuq1wtf																														
DOID:3307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85828009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253366007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854995	biolink:NamedThing			mondoexuq1wtf																														
DOID:10955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25157001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156848001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017652	biolink:NamedThing	obsolete rare disease with myoclonus as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN203543|Orphanet:306753														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
UMLS:CN203543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254707006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92824003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191568005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35863000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230745008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006975	biolink:NamedThing			mondoexuq1wtf																														
DOID:2098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25225006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001519	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169467	biolink:NamedThing			mondoexuq1wtf																														
DOID:11465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1735355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189291009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155988000	biolink:NamedThing			mondoexuq1wtf																														
DOID:12297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50855007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44553005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109998009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11888	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155777003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200193	biolink:NamedThing			mondoexuq1wtf																														
DOID:2559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2202743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156400006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020579	biolink:NamedThing			mondoexuq1wtf																														
DOID:5224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970161	biolink:NamedThing			mondoexuq1wtf																														
DOID:12382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193373007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440701	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205990	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0100229	biolink:NamedThing	obsolete Heimler syndrome	A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.	mondoexuq1wtf	bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|deafness-enamel hypoplasia-nail defects syndrome|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities|deafness enamel hypoplasia nail defects|Heimler syndrome	out of scope					MONDO:0100259	http://orcid.org/0000-0001-5208-3432		True		GARD:0001687|MESH:C535994|Orphanet:3220|UMLS:C1856186|SCTID:721085000														https://github.com/monarch-initiative/mondo/issues/3222				owl:Class
SNOMEDCT:721085000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000742	biolink:NamedThing	obsolete persistent generalized lymphadenopathy		mondoexuq1wtf	PGL			HP:0008940						True		SCTID:95892003|DOID:0060314																		owl:Class
SNOMEDCT:95892003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123201004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198212006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302844005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004816	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155468006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126895004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266214005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720414005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613177	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269600001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0554632	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227343	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67434000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700107006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050964	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235906009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398327006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419039007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98570	biolink:NamedThing			mondoexuq1wtf																														
DOID:6199	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019174	biolink:NamedThing	obsolete infantile Refsum disease	Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).	mondoexuq1wtf	Refsum disease, infantile form|infantile form of phytanic acid storage disease|IRD	out of scope					MONDO:0100259			True		NCIT:C84789|ICD10:G60.1|Orphanet:772|SCTID:238062008|GARD:0004648|UMLS:C0282527|MESH:D052919														https://github.com/monarch-initiative/mondo/issues/3222				owl:Class
MESH:D052919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719910004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854646	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295122	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020805	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036917	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217604	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020169	biolink:NamedThing	obsolete rare disorder with ptosis		mondoexuq1wtf		MONDO:outOfScope					MedDRA:10037272|UMLS:C0005745|MedDRA:10015995|MESH:D001763|UMLS:C0033377			True		UMLS:CN207031|Orphanet:98578														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MESH:D001607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65250	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205522	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720570007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271737000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239834007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007855	biolink:NamedThing			mondoexuq1wtf																														
DOID:154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230423006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86166000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618922	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188661000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197846004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98915	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042900	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497552	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416893007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276443001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708031000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204730	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614618	biolink:NamedThing			mondoexuq1wtf																														
DOID:1519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204431007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189950003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207331	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68956006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162364004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128524007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202145005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721738002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91857003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154291001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237655	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:30391	biolink:NamedThing			mondoexuq1wtf																														
DOID:580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197843007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28111002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604316	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070095	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301031	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45837	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190781009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254637007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26029002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810128	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266194002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194377001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201449008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724278007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26913	biolink:NamedThing			mondoexuq1wtf																														
DOID:1019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716380002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21653008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82800008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74859007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6635	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27148	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538089	biolink:NamedThing			mondoexuq1wtf																														
DOID:12003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557830	biolink:NamedThing			mondoexuq1wtf																														
DOID:9637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67202007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277918006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201131001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8097004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197103004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763457000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200930009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721883006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237999008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619057	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3566	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444558002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43959009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368019	biolink:NamedThing			mondoexuq1wtf																														
DOID:9903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261243	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511138	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306960	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855859	biolink:NamedThing			mondoexuq1wtf																														
DOID:7960	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310729	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45650007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763863002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363349007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565826	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537965	biolink:NamedThing			mondoexuq1wtf																														
DOID:8288	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060583	biolink:NamedThing			mondoexuq1wtf																														
DOID:4817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353320	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334389	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052621	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75570004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4722258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2826178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254116003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190012002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719218000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39194005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343047	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795940	biolink:NamedThing			mondoexuq1wtf																														
DOID:2529	biolink:NamedThing			mondoexuq1wtf																														
DOID:10595	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261190	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703234002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846685	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846588	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201497	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203688008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156220	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363492001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527225	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022263	biolink:NamedThing	obsolete congenital hepatic fibrosis		mondoexuq1wtf				MONDO:0018840						True	MONDO:0022266															https://github.com/monarch-initiative/mondo/issues/399				owl:Class
SNOMEDCT:191751008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604855	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN437676	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085762	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191834008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716318002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192355004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:289552002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015662	biolink:NamedThing	obsolete hemorrhagic disorder due to an acquired coagulation factor defect		mondoexuq1wtf	rare coagulopathy due to an acquired coagulation factor defect|rare bleeding disorder due to an acquired coagulation factor defect	MONDO:outOfScope								True		Orphanet:166775|UMLS:CN226721														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0003509	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58433006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154475002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014013	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009212	biolink:NamedThing			mondoexuq1wtf																														
DOID:9201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309169	biolink:NamedThing			mondoexuq1wtf																														
DOID:3326	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202059001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0848866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4553004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156901004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606772	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199481003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239940004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726611001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402771003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022656	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000787	biolink:NamedThing	obsolete tomato allergy	A allergy involving a Solanum lycopersicum.	mondoexuq1wtf	Solanum lycopersicum fruit allergy|Solanum lycopersicum caused allergic disease|Solanum lycopersicum allergic disease|allergy of Solanum lycopersicum	MONDO:outOfScope								True		DOID:0060512														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060512	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47595008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203769	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269529007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155851004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345912	biolink:NamedThing			mondoexuq1wtf																														
DOID:7013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200567	biolink:NamedThing			mondoexuq1wtf																														
DOID:326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67432001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228299	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090135	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278878	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402296004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111341	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189106003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28432003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20212001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1065	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40278	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609634	biolink:NamedThing			mondoexuq1wtf																														
DOID:5337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238832003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837492	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446887007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197183001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151783	biolink:NamedThing			mondoexuq1wtf																														
DOID:11750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3345002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199165	biolink:NamedThing			mondoexuq1wtf																														
DOID:11459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4021000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227687	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721141004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1022006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231858009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0599973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280324	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269615000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720950009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566784	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83600	biolink:NamedThing			mondoexuq1wtf																														
DOID:7426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31997002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344993	biolink:NamedThing			mondoexuq1wtf																														
DOID:612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715564000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363455001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155616009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537794	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/575966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023351	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070339	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0477355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763375003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238070003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399617002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275859	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88195001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614249	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186357007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363384006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267607008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268082002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254107002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3502005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150700	biolink:NamedThing			mondoexuq1wtf																														
DOID:5327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413443009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195269009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387754006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699313003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333595	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554108	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154714009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186958009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567710	biolink:NamedThing			mondoexuq1wtf																														
DOID:10936	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359842002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7077006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102022	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017308	biolink:NamedThing	obsolete Marfan syndrome type 2	Hypothesized form of Marfan; dubious	mondoexuq1wtf	MFS2|Marfan syndrome type II			MONDO:0012427						True		Orphanet:284973|UMLS:C2698016|UMLS:C2931058|MESH:C535911|ICD10:Q87.4|NCIT:C75007																		owl:Class
SNOMEDCT:41345002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720638000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1652	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717825008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608905	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27199	biolink:NamedThing			mondoexuq1wtf																														
DOID:11582	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61098004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21708004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1268935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277466009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2231001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015173	biolink:NamedThing	obsolete autoimmune enteropathy type 2		mondoexuq1wtf						Obsolete in Orphanet	Orphanet:522043			True		ICD10:K52.8|Orphanet:103916|UMLS:CN226616																		owl:Class
UMLS:CN226616	biolink:NamedThing			mondoexuq1wtf																														
DOID:4943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614049	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190590004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93852003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723441001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196534000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608068	biolink:NamedThing			mondoexuq1wtf																														
DOID:10519	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853235	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314684	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060187	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154671	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614213	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042217	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75952005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128462008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857471	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018539	biolink:NamedThing	obsolete rare epithelial tumor of small intestine		mondoexuq1wtf	rare epithelial tumor of small bowel	MONDO:outOfScope								True		Orphanet:425368|UMLS:CN237541														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:85276	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125661	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606394	biolink:NamedThing			mondoexuq1wtf																														
DOID:4915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711151004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240093008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76905008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717013009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564499	biolink:NamedThing			mondoexuq1wtf																														
DOID:402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399302	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190457001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268120	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001474	biolink:NamedThing			mondoexuq1wtf																														
DOID:8778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37344009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189895006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112833	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111767	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014384	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334231	biolink:NamedThing			mondoexuq1wtf																														
DOID:2701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931289	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005759	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0243002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4455	biolink:NamedThing			mondoexuq1wtf																														
DOID:8534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C14158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050129	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93653006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110775	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566976	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724207001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406506008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153376	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22066006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157027006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009807	biolink:NamedThing			mondoexuq1wtf																														
DOID:8635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188244007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40286	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021434	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:160148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716652006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154854002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254631008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128107007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1897	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4972	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35815	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025500	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156470005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023075	biolink:NamedThing			mondoexuq1wtf																														
DOID:12603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857847	biolink:NamedThing			mondoexuq1wtf																														
DOID:10383	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26707	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40229007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22935002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204508009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154363006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0451688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277189006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539848	biolink:NamedThing			mondoexuq1wtf																														
DOID:13135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371596008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849048	biolink:NamedThing			mondoexuq1wtf																														
DOID:1793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565384	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36388	biolink:NamedThing			mondoexuq1wtf																														
DOID:8675	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105638003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96265	biolink:NamedThing			mondoexuq1wtf																														
DOID:6929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85071	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563952	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230548007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86299006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271532008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2212014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65710008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186127007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404633004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1951	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005171	biolink:NamedThing			mondoexuq1wtf																														
DOID:5641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9289	biolink:NamedThing			mondoexuq1wtf																														
DOID:3025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22932004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512224	biolink:NamedThing			mondoexuq1wtf																														
DOID:1129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0312860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3876	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715479009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1802405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21783006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205236	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058298	biolink:NamedThing			mondoexuq1wtf																														
DOID:4232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79504	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198021000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723453002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193137006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5434	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82308007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1883	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232442001	biolink:NamedThing			mondoexuq1wtf																														
DOID:9300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52248008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861305	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201131	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62909004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46585005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000647	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ordo_biological_anomaly	biolink:NamedThing			mondoexuq1wtf						biological anomaly																								owl:AnnotationProperty
SNOMEDCT:763795006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719813003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239062001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74400008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84647	biolink:NamedThing			mondoexuq1wtf																														
DOID:12286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201047002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30962008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401764	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77797009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2237	biolink:NamedThing			mondoexuq1wtf																														
DOID:11669	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235231000119100	biolink:NamedThing			mondoexuq1wtf																														
DOID:10011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359609001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268749008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856603	biolink:NamedThing			mondoexuq1wtf																														
DOID:12803	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017120	biolink:NamedThing	obsolete other syndrome with a central nervous system malformation as major feature		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider deleting all 'other' terms				True		Orphanet:269531|UMLS:CN202470														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
NCIT:C7168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186306008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31043	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267617003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419153005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715428003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191255003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0413194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111517004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765100000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59770006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406591006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34469	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711059	biolink:NamedThing			mondoexuq1wtf																														
DOID:5457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702356009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618890	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135088	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017633	biolink:NamedThing	obsolete rare intoxication due to medical products		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN227165|Orphanet:306640														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:306640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4287868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399948007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44452003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529974	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100067	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537203	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100101	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186964002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24565001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848932	biolink:NamedThing			mondoexuq1wtf																														
DOID:9976	biolink:NamedThing			mondoexuq1wtf																														
DOID:8188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010598	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN971653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0578870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449259009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4721	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146580	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238826008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027145	biolink:NamedThing			mondoexuq1wtf																														
DOID:11257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197433003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61270	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95211004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265376	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725098001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207344	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070011	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157846	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28899001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699318007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604370	biolink:NamedThing			mondoexuq1wtf																														
DOID:270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57653000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240417004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82711006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001824	biolink:NamedThing			mondoexuq1wtf																														
DOID:4893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3840223	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148970	biolink:NamedThing			mondoexuq1wtf																														
DOID:11267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9012	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717016001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719650004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155095006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3178970	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280671	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3241	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001052	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280523	biolink:NamedThing			mondoexuq1wtf																														
DOID:1391	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016133	biolink:NamedThing	obsolete rare hereditary metabolic disease with peripheral neuropathy		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:207018|UMLS:CN200897														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931515	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27288	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268467	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7644	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270549	biolink:NamedThing			mondoexuq1wtf																														
DOID:6313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4340003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187801002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855789	biolink:NamedThing			mondoexuq1wtf																														
DOID:6727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006331	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715721005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95802009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55595	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050966	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110617	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70173007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085411	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007659	biolink:NamedThing	obsolete giant platelet syndrome with thrombocytopenia		mondoexuq1wtf	giant platelet syndrome with thrombocytopenia|moved to 155100						MONDO:0007954			True		MESH:C564237|UMLS:C1842035|OMIM:137560																		owl:Class
UMLS:C1842035	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118830	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553999	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312912001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678061	biolink:NamedThing			mondoexuq1wtf																														
DOID:7138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200961000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93926	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155133003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610878	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080292	biolink:NamedThing			mondoexuq1wtf																														
DOID:2962	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263429	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#mostly_harmless	biolink:NamedThing			mondoexuq1wtf						condition has no severe phenotypes and is harmless or mostly harmless																								owl:AnnotationProperty
UMLS:CN200045	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565482	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7607	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565475	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181425	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864232	biolink:NamedThing			mondoexuq1wtf																														
DOID:11120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567731	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425492002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:599373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:318316003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240111007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512750	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200991005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155803007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1324	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6065	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035615	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610455	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536471	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90458007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37308	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717052002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1636149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:223713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126703006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3428	biolink:NamedThing			mondoexuq1wtf																														
DOID:5680	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3369	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227535	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54087003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3093	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017206	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0346202	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398670003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805604	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488197	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060730	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85956000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186686004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26771	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612702	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155289000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151078	biolink:NamedThing			mondoexuq1wtf																														
DOID:11668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612885	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413441006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423798	biolink:NamedThing			mondoexuq1wtf																														
DOID:3614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN674504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203743	biolink:NamedThing			mondoexuq1wtf																														
DOID:9286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3772	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405721006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158248	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154623004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69159005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187115002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201157003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724226009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247262	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343966	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058922	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111360	biolink:NamedThing			mondoexuq1wtf																														
DOID:6244	biolink:NamedThing			mondoexuq1wtf																														
DOID:4959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73998008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733072002	biolink:NamedThing			mondoexuq1wtf																														
DOID:807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154367007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146350	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011796	biolink:NamedThing			mondoexuq1wtf																														
DOID:1906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27340	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008288	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204319006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234533006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000067208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187311001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205692003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34171006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155352001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19467007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763387005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003742	biolink:NamedThing			mondoexuq1wtf																														
DOID:10989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3775	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156183	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008413	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766705006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612595	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71508003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85032	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363744	biolink:NamedThing			mondoexuq1wtf																														
DOID:2706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717267005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612922	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72000004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310753	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763309005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237640	biolink:NamedThing			mondoexuq1wtf																														
DOID:3111	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268357008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91354	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090023	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017433	biolink:NamedThing	obsolete dysostosis with combined reduction defects of upper and lower limbs		mondoexuq1wtf										True		Orphanet:294957																		owl:Class
ORPHA:294957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388759003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71904008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371583007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9893005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45410002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57643001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55094006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720827002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342739	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044231	biolink:NamedThing	obsolete eyebrow, whorl 1n		mondoexuq1wtf	eyebrow, whorl in					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:133800																		owl:Class
UMLS:C1851401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156800002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129029	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297231002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278364	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267581004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8857	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78069008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2718068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197215006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424943	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12546009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050540	biolink:NamedThing			mondoexuq1wtf																														
DOID:2705	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:214600002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859209	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75589004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3661523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240095001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402426007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155530006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752138	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154272001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63246000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225305	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006479	biolink:NamedThing			mondoexuq1wtf																														
DOID:12756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182111	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294939	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725157006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808786	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013330	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008728	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019041	biolink:NamedThing	obsolete rare genetic inherited tumor		mondoexuq1wtf	rare genetic tumor			MONDO:0005070						True		UMLS:CN205525|Orphanet:68336														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN205525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59708000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110970	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16044751000119106	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047808	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110021	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862561	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268351	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012793	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362973001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193980001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80141007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764999002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41236	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234440005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6227	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021171	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155020007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719662000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41545003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306776	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238025006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864669	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193384000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN800196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79367	biolink:NamedThing			mondoexuq1wtf																														
DOID:315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334549	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154460005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74732009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267701004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1366911	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155304006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665425	biolink:NamedThing			mondoexuq1wtf																														
DOID:11427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201593005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192970008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155435	biolink:NamedThing			mondoexuq1wtf																														
DOID:2982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128474007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4040043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403720	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536835	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002046	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267469001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44785005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536662	biolink:NamedThing			mondoexuq1wtf																														
DOID:693	biolink:NamedThing			mondoexuq1wtf																														
DOID:12566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202468	biolink:NamedThing			mondoexuq1wtf																														
DOID:3112	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020269	biolink:NamedThing	obsolete syndromic ichthyosis associated with ocular features	A ichthyosis associated with ocular features that is part of a larger syndrome.	mondoexuq1wtf	syndrome associated with ichthyosis associated with ocular features|syndromic ichthyosis associated with ocular features					This grouping class is no longer needed.				True		UMLS:CN227843|Orphanet:98699														https://github.com/monarch-initiative/mondo/pull/2571				owl:Class
ORPHA:98699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12068006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99735	biolink:NamedThing			mondoexuq1wtf																														
DOID:1024	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000422	biolink:NamedThing	obsolete inborn glycogen metabolism disorder		mondoexuq1wtf				MONDO:0002412						True																				owl:Class
UMLS:C0034103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765057007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426055002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721084001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255058005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058429	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65668001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004761	biolink:NamedThing	obsolete urethral diverticulum		mondoexuq1wtf	obsolete urethral diverticulum (disease)		obsolete urethral diverticulum (disease)	HP:0008722		Obsoleted as it represents a finding or phenotypic feature	NCIT:C39861			True		ICD9:599.2|DOID:9341|ICD10:N36.1																		owl:Class
SNOMEDCT:90531003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601894	biolink:NamedThing			mondoexuq1wtf																														
DOID:2074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0742232	biolink:NamedThing			mondoexuq1wtf																														
DOID:6901	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003460	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420755	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:7	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443675005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187059008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833270	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93172	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23097003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65075004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156947007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206292002	biolink:NamedThing			mondoexuq1wtf																														
DOID:668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10177005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156825006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76255006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4296	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196605000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716515000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126836001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369970	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403443	biolink:NamedThing			mondoexuq1wtf																														
DOID:2508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715861004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1519	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415991003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265380	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5835	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150912	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050916	biolink:NamedThing			mondoexuq1wtf																														
DOID:10619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189949003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7944	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842090	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111621	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189514004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187298009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719823007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060556	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155934005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565870	biolink:NamedThing			mondoexuq1wtf																														
DOID:14284	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237072009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267441009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615962	biolink:NamedThing			mondoexuq1wtf																														
DOID:2653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30896000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82966003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58729003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191272005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:713	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125603006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197278002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844886	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333109	biolink:NamedThing			mondoexuq1wtf																														
DOID:3978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3453	biolink:NamedThing			mondoexuq1wtf																														
DOID:12841	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000790	biolink:NamedThing	obsolete Atlantic salmon allergy	A allergy involving a Salmo salar.	mondoexuq1wtf	Salmo salar caused allergic disease|allergy of Salmo salar|Salmo salar allergic disease|Salmo salar fish allergy	MONDO:outOfScope								True		DOID:0060515														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33445	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008574	biolink:NamedThing	obsolete Tl antigen		mondoexuq1wtf	histocompatibility 2, T-region locus 18|Thymus leukemia antigen|Tl antigen									True		OMIM:188850																		owl:Class
http://identifiers.org/omim/188850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732933009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26399002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334953	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60492000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197792007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:616	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619157	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111356	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023529	biolink:NamedThing			mondoexuq1wtf																														
DOID:7656	biolink:NamedThing			mondoexuq1wtf																														
DOID:13690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155339006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198089001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970879	biolink:NamedThing			mondoexuq1wtf																														
DOID:3620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567298	biolink:NamedThing			mondoexuq1wtf																														
DOID:4151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240121004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155630004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186437007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193343003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429735007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808619	biolink:NamedThing			mondoexuq1wtf																														
DOID:4413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1622345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013371	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080029	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044243	biolink:NamedThing	obsolete nail high-sulfur protein		mondoexuq1wtf	nail high-sulfur PROTEIN					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:161070																		owl:Class
UMLS:C1834404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205572001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835631	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7359	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276724002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36425007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79665007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193024	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844501	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931345	biolink:NamedThing			mondoexuq1wtf																														
DOID:8431	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2289	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154487009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850169	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197266001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5579	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12900003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969651	biolink:NamedThing			mondoexuq1wtf																														
DOID:11243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267686002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26941	biolink:NamedThing			mondoexuq1wtf																														
DOID:13137	biolink:NamedThing			mondoexuq1wtf																														
DOID:6126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930874	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835084	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73098005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221139	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428905002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339765	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060797	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353344	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35772	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865139	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C175583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/598500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1927	biolink:NamedThing			mondoexuq1wtf																														
DOID:5973	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016470	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015186	biolink:NamedThing	obsolete rare tumor of intestine	Rare intestinal neoplasm.	mondoexuq1wtf	rare intestinal tumor|rare tumor of bowel|rare intestinal neoplasm			MONDO:0021118			UMLS:C0021841			True		Orphanet:104011														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN205049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191172001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017604	biolink:NamedThing			mondoexuq1wtf																														
DOID:4677	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268299006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715048	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267866004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66514008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396338004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236989	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38875006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69044001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99928	biolink:NamedThing			mondoexuq1wtf																														
DOID:4607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154706003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335563	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090051	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123307003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83223005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276198000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309447	biolink:NamedThing			mondoexuq1wtf																														
DOID:6518	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023033	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:2550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479428	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2698359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101108	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0014330	biolink:NamedThing	obsolete eculizumab, poor response to		mondoexuq1wtf	eculizumab, poor response to									True		OMIM:615749|UMLS:C3810402																		owl:Class
UMLS:C3810402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034131	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231127	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020003	biolink:NamedThing	obsolete rare surgical cardiac disease		mondoexuq1wtf				MONDO:0000001						True		Orphanet:97965|UMLS:CN206936														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:239872002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55021007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191618007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49436004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155276006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189557009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000806	biolink:NamedThing	obsolete horned turban snail allergy	A allergy involving a Turbo cornutus.	mondoexuq1wtf	Turbo cornutus allergic disease|Turbo cornutus caused allergic disease|Turbo cornutus allergy|allergy of Turbo cornutus	MONDO:outOfScope								True		DOID:0060531														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720863002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268627007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255095005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423451008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018545	biolink:NamedThing	obsolete primary immunodeficiency with predisposition to severe viral infection		mondoexuq1wtf										True		Orphanet:431156																		owl:Class
ORPHA:33111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267463000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846452	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852542	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267814008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204895009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405235009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763715007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4231	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604273	biolink:NamedThing			mondoexuq1wtf																														
DOID:10459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676727	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360481003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:221695002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207336	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3713418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060135	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272791	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015618	biolink:NamedThing	obsolete genetic pancreatic disease		mondoexuq1wtf				MONDO:0002356						True		UMLS:CN199994|Orphanet:165661														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0090042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699756005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190922005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89454001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019750	biolink:NamedThing	obsolete rare renal disease	Any of the forms of urinary system disease that have a rare incidence.	mondoexuq1wtf	rare kidney disease|rare urinary system disease			MONDO:0005240						True		Orphanet:93626|UMLS:CN206681														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206681	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1354	biolink:NamedThing			mondoexuq1wtf																														
DOID:8580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310943	biolink:NamedThing			mondoexuq1wtf																														
DOID:5026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720345008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206527	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614418	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47639008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396224008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230333002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1987	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55475008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339611	biolink:NamedThing			mondoexuq1wtf																														
DOID:1882	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:20000020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538296	biolink:NamedThing			mondoexuq1wtf																														
DOID:9258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237939006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1380	biolink:NamedThing			mondoexuq1wtf																														
DOID:9667	biolink:NamedThing			mondoexuq1wtf																														
DOID:13629	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445918001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195359000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155968004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:215617000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193011	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519849	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90654	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011127	biolink:NamedThing	obsolete Bartter disease type 1		mondoexuq1wtf				MONDO:0100344						True																https://github.com/monarch-initiative/mondo/issues/2935				owl:Class
UMLS:C0025289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78586005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27144	biolink:NamedThing			mondoexuq1wtf																														
DOID:3743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24629003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854795	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156900	biolink:NamedThing			mondoexuq1wtf																														
DOID:201	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66756	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13645005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90120004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203361005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538141	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268779001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023290	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18365006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715625007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720466001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84577	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4255374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98568	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194364005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109913001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402841001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67360000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838103	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722389002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240786004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336754	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150701	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:931	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235591	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3873401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002892	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0012294	biolink:NamedThing	obsolete drug metabolism, poor, Cyp2C19-related		mondoexuq1wtf	drug metabolism, poor, Cyp2C19-related|Opremazole, poor metabolism of|Mephenytoin, poor metabolism of|Omeprazole, poor metabolism of|Proguanil, poor metabolism of|clopidogrel, poor metabolism of									True		UMLS:C1836023|OMIM:609535|GARD:0012906																		owl:Class
UMLS:C2674941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289513	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601399	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109984001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862213	biolink:NamedThing			mondoexuq1wtf																														
DOID:4287	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157852	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22155002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192452000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237821001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100091	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1882278	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234569003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153434	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060383	biolink:NamedThing			mondoexuq1wtf																														
DOID:13636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189882001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722231005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188213003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3624	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302858007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1882915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2743	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111778	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859967	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150672	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35371	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72776003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124322002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263385	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7550	biolink:NamedThing			mondoexuq1wtf																														
DOID:5015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5940	biolink:NamedThing			mondoexuq1wtf																														
DOID:11991	biolink:NamedThing			mondoexuq1wtf																														
DOID:7297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3204	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310780	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247473009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270488006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155834006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3344	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309324	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155171006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016343	biolink:NamedThing	obsolete unclassified cardiomyopathy		mondoexuq1wtf		out of scope					MONDO:0004994			True		Orphanet:217678														https://github.com/monarch-initiative/mondo/issues/2824				owl:Class
MESH:C580017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193989000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:316226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94408	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238714008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855771	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367355001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93469006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205682006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128731008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2779	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019590	biolink:NamedThing	obsolete rare endocrine growth disease		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:90692|UMLS:CN206437														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:90692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766816008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41607009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717043006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267690000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307595008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:107581000119103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24069003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31569001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191005003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/425500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32273002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232060005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012750	biolink:NamedThing			mondoexuq1wtf																														
DOID:14687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513719	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68913001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197906006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:432261003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156327	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033677	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617188	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722075004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190594008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748752	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027697	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49584005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2962009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35037009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269535007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332215	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618857	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193225000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254055004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269472003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071570	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26349	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82323002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124165006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118599009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192583003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699316006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67189007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204412	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227798	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566084	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013896	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1386942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846128	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020413	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859709	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5552004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124147007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707441009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155007009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000303	biolink:NamedThing			mondoexuq1wtf																														
DOID:3166	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070178	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142084	biolink:NamedThing			mondoexuq1wtf																														
DOID:4688	biolink:NamedThing			mondoexuq1wtf																														
DOID:10242	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472813	biolink:NamedThing			mondoexuq1wtf																														
DOID:2426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397802	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345908	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190006007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134208005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3166	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91355	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536428	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186947000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128878003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3543826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204036008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237996001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016766	biolink:NamedThing	obsolete rare lichen planus	Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis.	mondoexuq1wtf	rare LP|rare lichen planus			MONDO:0006572			ICD10:L43.1|ICD10:L43.3|ICD10:L66.1|ICD10:L43.0|ICD10:L43.9|ICD10:L43.2|UMLS:C0023646|ICD10:L43.8			True		Orphanet:254367|GARD:0012344														https://github.com/monarch-initiative/mondo/issues/254|https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus				owl:Class
ORPHA:254367	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000071243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70737009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254818	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34819	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8402	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152439	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13746004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266446008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8053	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537293	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110889	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848221	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155932009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155691003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857277	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020318	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:134331008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1959582	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060882	biolink:NamedThing			mondoexuq1wtf																														
DOID:5742	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24750000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76642003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94067008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29281007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98950	biolink:NamedThing			mondoexuq1wtf																														
DOID:3482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765140006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020151	biolink:NamedThing	obsolete rare palpebral disease	Any of the forms of eyelid disease that have a rare incidence.	mondoexuq1wtf	rare eyelid disease			MONDO:0003382			UMLS:C0015423			True		Orphanet:98560														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98560	biolink:NamedThing			mondoexuq1wtf																														
DOID:11573	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92443005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015502	biolink:NamedThing	obsolete pinnae and external auditory canal anomaly		mondoexuq1wtf										True		Orphanet:156243																		owl:Class
ORPHA:156243	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725029001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198028006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334757	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334556	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080079	biolink:NamedThing			mondoexuq1wtf																														
DOID:5530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719577000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198191007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192167008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126980002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60555002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332962	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3140	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194745002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN895589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195035002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281192	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55807009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004831	biolink:NamedThing			mondoexuq1wtf																														
DOID:4364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488618	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011535	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200321008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228940	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269433002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111483	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609944	biolink:NamedThing			mondoexuq1wtf																														
DOID:5500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266637008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015183	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112625008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280654	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565022	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0033550	biolink:NamedThing	obsolete high density lipoprotein cholesterol level quantitative trait locus 7		mondoexuq1wtf	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7|HDLCQ7									True		OMIM:618979																		owl:Class
http://identifiers.org/omim/618979	biolink:NamedThing			mondoexuq1wtf																														
DOID:5183	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018033	biolink:NamedThing	obsolete other immunodeficiency syndromes due to defects in innate immunity		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		Orphanet:331193|UMLS:CN204276														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
http://identifiers.org/omim/619122	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068848	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199280	biolink:NamedThing			mondoexuq1wtf																														
DOID:28	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235494005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267676003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247479008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193218007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34417008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333821	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111691	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79211	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000744	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536767	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566584	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41049003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126802007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271561	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13832009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203228	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191987007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43019009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3178805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155052007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833162	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193760005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90241004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:709	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77182004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276954004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2582	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014899	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27543	biolink:NamedThing			mondoexuq1wtf																														
DOID:6217	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418172001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397973	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719449007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031903	biolink:NamedThing			mondoexuq1wtf																														
DOID:7004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435628	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347269	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156076	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399252000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52182008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19598007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618086	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26844	biolink:NamedThing			mondoexuq1wtf																														
DOID:7725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:727	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92582009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853995	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99021	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020596	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015901	biolink:NamedThing	obsolete rare inherited hyperlipidemia		mondoexuq1wtf	rare hyperlipidemia			MONDO:0021187			ICD10:E78.0|ICD10:E78.3|ICD9:272.4|UMLS:C0020473|ICD10:E78.4|ICD10:E78.5|ICD10:E78.2|ICD10:E78.1			True		Orphanet:181422														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:61960001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254102008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155159000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8493009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2645	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615399	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602134	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080338	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1531608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18612007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98760	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110486	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93913006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809882	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600631	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201422	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96918	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020999	biolink:NamedThing	obsolete genetic chronic primary adrenal insufficiency		mondoexuq1wtf										True		Orphanet:101960																		owl:Class
http://identifiers.org/omim/611090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34662	biolink:NamedThing			mondoexuq1wtf																														
DOID:4517	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189738002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111420009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2484	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295018	biolink:NamedThing			mondoexuq1wtf																														
DOID:11315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607706	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538155	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85049009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198004009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367474008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237885008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39302008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711158005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11103	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363478007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024984	biolink:NamedThing			mondoexuq1wtf																														
DOID:7224	biolink:NamedThing			mondoexuq1wtf																														
DOID:5348	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92437008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155077008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154470007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40136	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57838006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266179001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196512002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204831002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850331	biolink:NamedThing			mondoexuq1wtf																														
DOID:7017	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563365	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:791000124107	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080339	biolink:NamedThing			mondoexuq1wtf																														
DOID:14111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28143002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93110	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540059	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238136002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56335008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1395852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27191	biolink:NamedThing			mondoexuq1wtf																														
DOID:1591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8084001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254570009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190361006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:299968002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66308002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189116006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390001000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763632004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766979005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27040004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76616003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266627003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:250058008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266494007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125666000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2753	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580364	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015223	biolink:NamedThing	obsolete rare anemia	Rare anemia.	mondoexuq1wtf	rare anemia|rare anemia (disease)			MONDO:0002280			UMLS:C0002871			True		Orphanet:108997														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:108997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32035007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4887000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230283005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213823	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677167	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154394006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418801006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044269	biolink:NamedThing	obsolete novelty seeking personality trait	Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related.	mondoexuq1wtf	novelty seeking personality trait|risk-taking behavior					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:601696																		owl:Class
http://identifiers.org/omim/601696	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43300008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234143003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018530	biolink:NamedThing	obsolete rare epithelial tumor of liver and intrahepatic biliary tract		mondoexuq1wtf	rare epithelial tumor of liver and IBT	MONDO:outOfScope								True		UMLS:CN237535|Orphanet:424933														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C535317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44529004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720573009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126616000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206660	biolink:NamedThing			mondoexuq1wtf																														
DOID:7141	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438266	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000314	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206716	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443492008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206115	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90339	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16343004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367095008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88714009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2751	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3167	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855722	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601808	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1563006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80710001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7632005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279904	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6512	biolink:NamedThing			mondoexuq1wtf																														
DOID:6595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126824007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001467	biolink:NamedThing	obsolete specific bursitis often of occupational origin		mondoexuq1wtf	specific bursitides often of occupational origin									True		COHD:137652|SCTID:42812006|ICD9:727.2|DOID:12223|UMLS:C0158332																		owl:Class
UMLS:C0158332	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254869000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155194007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9343	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60113004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398838000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3043	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676235	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN069134	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37312	biolink:NamedThing			mondoexuq1wtf																														
DOID:9651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21173002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197656003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044228	biolink:NamedThing	obsolete eegbqtl	Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}).	mondoexuq1wtf	ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus|EEGBQTL					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:130190																		owl:Class
UMLS:C3549684	biolink:NamedThing			mondoexuq1wtf																														
DOID:2313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796056	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:182747006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111496009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1320317	biolink:NamedThing			mondoexuq1wtf																														
DOID:2051	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443909	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270804	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609628	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072361	biolink:NamedThing			mondoexuq1wtf																														
DOID:9739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195480007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766704005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4815	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314407005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280397	biolink:NamedThing			mondoexuq1wtf																														
DOID:8358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1406822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155845009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37138001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204714	biolink:NamedThing			mondoexuq1wtf																														
DOID:4846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765326001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404659001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607236	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015047	biolink:NamedThing			mondoexuq1wtf																														
DOID:9843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236392004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187082005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267565009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050578	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070115	biolink:NamedThing			mondoexuq1wtf																														
DOID:5546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719972004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73034009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265303	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4289	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016508	biolink:NamedThing	obsolete rare non surgically correctable form of primary aldosteronism		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN226947|Orphanet:231641														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C9135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3142	biolink:NamedThing			mondoexuq1wtf																														
DOID:1210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274139	biolink:NamedThing			mondoexuq1wtf																														
DOID:10536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016773	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719163006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190639009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372939007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445014002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536480	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535826	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190914003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187087004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268226005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196584007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842531	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111293003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:25968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201439005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34816	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363401000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336982	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3904	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192319007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195823002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194882001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236478009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4269005	biolink:NamedThing			mondoexuq1wtf																														
DOID:962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98773	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3598	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168850	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398623004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7810004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9170001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204312002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600965	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733066002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199971006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58349009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400142003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399107008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203537	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189051001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85708001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191336001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008925	biolink:NamedThing			mondoexuq1wtf																														
DOID:261	biolink:NamedThing			mondoexuq1wtf																														
DOID:6512	biolink:NamedThing			mondoexuq1wtf																														
DOID:14203	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4344	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608173	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015886	biolink:NamedThing	obsolete rare diabetes mellitus type 1	Any of the forms of type 1 diabetes mellitus that have a rare incidence.	mondoexuq1wtf	rare type 1 diabetes mellitus|rare insulin-dependent diabetes mellitus			MONDO:0005147			UMLS:C0011854			True		Orphanet:181371														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MEDDRA:10058917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48218007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70667005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154637008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021103	biolink:NamedThing	obsolete collagen diseases	Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)	mondoexuq1wtf	disease, collagen|collagen disorder|diseases, collagen|collagen disease						MONDO:0003900|MONDO:0005554			True		ICD9:710.8|DOID:854|ICD9:710.9|SCTID:81573002|MESH:D003095|UMLS:C0009326																		owl:Class
UMLS:C0009326	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2983	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719377004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533847	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615751	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN580791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2390	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274142002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269605006	biolink:NamedThing			mondoexuq1wtf																														
DOID:571	biolink:NamedThing			mondoexuq1wtf																														
DOID:14755	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842762	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537502	biolink:NamedThing			mondoexuq1wtf																														
DOID:1680	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86834	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82214002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050769	biolink:NamedThing			mondoexuq1wtf																														
DOID:8216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060868	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60684003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194086004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007494	biolink:NamedThing	obsolete episodic kinesigenic dyskinesia 1		mondoexuq1wtf				MONDO:0100352						True																https://github.com/monarch-initiative/mondo/issues/2936				owl:Class
DOID:0050570	biolink:NamedThing			mondoexuq1wtf																														
DOID:8869	biolink:NamedThing			mondoexuq1wtf																														
DOID:4679	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606854	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036120	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84917	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89838	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010522	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062989	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718135001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070280	biolink:NamedThing			mondoexuq1wtf																														
DOID:10125	biolink:NamedThing			mondoexuq1wtf																														
DOID:6032	biolink:NamedThing			mondoexuq1wtf																														
DOID:3049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535833	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398256009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195795005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300066	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023369	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403901001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302826002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266180003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931751	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563870	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007969	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565882	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155396	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010804	biolink:NamedThing	obsolete BRCATA		mondoexuq1wtf	BRCATA|breast cancer, 11-22 translocation-associated|moved to 114480						MONDO:0016419			True		OMIM:600048														https://github.com/monarch-initiative/mondo/issues/1698				owl:Class
UMLS:C1332441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597874	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:572768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155341007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719578005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254916002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203781	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309031	biolink:NamedThing			mondoexuq1wtf																														
DOID:2352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717824007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079485	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613062	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84089009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539729	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719652007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D038921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203468000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85583005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192915005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845073	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13272007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615909	biolink:NamedThing			mondoexuq1wtf																														
DOID:3641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3940	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30289006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196316003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92237006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28651003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:171131006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751885	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267732003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1331	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156989004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2304001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154744007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81166004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266108008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608471	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007729	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445406001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/509829	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111546	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266525002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11073003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305156	biolink:NamedThing			mondoexuq1wtf																														
DOID:3530	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721090002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347254	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118604003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240373006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193871000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:15	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154446008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7109007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699955004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1444621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104400	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015971	biolink:NamedThing	obsolete rare genetic adrenal disease		mondoexuq1wtf				MONDO:0005495						True		UMLS:CN200570|Orphanet:183637														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:12901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197902008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88905005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254874008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86133004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:557056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254093009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859786	biolink:NamedThing			mondoexuq1wtf																														
DOID:12577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0812413	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536825	biolink:NamedThing			mondoexuq1wtf																														
DOID:13724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81201000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839669	biolink:NamedThing			mondoexuq1wtf																														
DOID:3740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119734	biolink:NamedThing			mondoexuq1wtf																														
DOID:6811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2407	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050456	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190132004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887892	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192889009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193683001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190640006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192345003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84121007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609122	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178512	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020202	biolink:NamedThing	obsolete conjunctival lymphangiectasia		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0006170			True		UMLS:C0339186|ICD9:372.89|SCTID:231871007|Orphanet:98614																		owl:Class
ORPHA:98614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60192008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192932009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722455002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846582	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003969	biolink:NamedThing			mondoexuq1wtf																														
DOID:7409	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019295	biolink:NamedThing	obsolete other dermis disorder		mondoexuq1wtf							MONDO:0021154			True																				owl:Class
MEDDRA:10062920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12876009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193036004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5566	biolink:NamedThing			mondoexuq1wtf																														
DOID:5577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:258300000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154513000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424802006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9147009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306727	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64324003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254411	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367388008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251663	biolink:NamedThing			mondoexuq1wtf																														
DOID:11034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30533003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253005002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2981141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844873	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268635005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000823	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/121270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303565	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154621002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198045001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85672005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254958004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567064	biolink:NamedThing			mondoexuq1wtf																														
DOID:10445	biolink:NamedThing			mondoexuq1wtf																														
DOID:1798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008373	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393596009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134520	biolink:NamedThing			mondoexuq1wtf																														
DOID:106	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230900	biolink:NamedThing			mondoexuq1wtf																														
DOID:12638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314041	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194775007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156415007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234347009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750785	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080379	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748540	biolink:NamedThing			mondoexuq1wtf																														
DOID:10591	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446096008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266097006	biolink:NamedThing			mondoexuq1wtf																														
DOID:827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399072004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275750	biolink:NamedThing			mondoexuq1wtf																														
DOID:3503	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3335	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3746	biolink:NamedThing			mondoexuq1wtf																														
DOID:561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205562004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154703006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3889475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149300	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722859001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042171	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92165001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618885	biolink:NamedThing			mondoexuq1wtf																														
DOID:3350	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2316212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20927009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539954	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020149	biolink:NamedThing	obsolete rare eye disease due to a differentiation anomaly		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN207024|Orphanet:98558														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15674004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154671004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266615001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301183007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204512	biolink:NamedThing			mondoexuq1wtf																														
DOID:2153	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2807	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020578	biolink:NamedThing	obsolete vitamin D deficiency	Abnormally low level of 25-hydroxyvitamin D in the blood.	mondoexuq1wtf	vitamin D deficiency			HP:0100512						True		NCIT:C114830																		owl:Class
NCIT:C114830	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41251	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716248001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007138	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601493	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84825	biolink:NamedThing			mondoexuq1wtf																														
DOID:1638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274899008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231996009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86044005	biolink:NamedThing			mondoexuq1wtf																														
DOID:9271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601458	biolink:NamedThing			mondoexuq1wtf																														
DOID:9603	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65986000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147891	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39839004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616286	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722456001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193158000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725078006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254962005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270800	biolink:NamedThing			mondoexuq1wtf																														
DOID:5191	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84172003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300321	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325099	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021307	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:14796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722035007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68675004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61599003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75572007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6183001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37660004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:261029002	biolink:NamedThing			mondoexuq1wtf																														
DOID:9590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26918003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018418	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563363	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150251	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201000006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69878008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612132	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056892	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563775	biolink:NamedThing			mondoexuq1wtf																														
DOID:9534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719450007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187873000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615071	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614699	biolink:NamedThing			mondoexuq1wtf																														
DOID:8023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49483002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93957005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271245	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85274	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019658	biolink:NamedThing	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0019006			True		ICD10:N04.3|UMLS:CN206531|Orphanet:93222																		owl:Class
UMLS:CN206531	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1378340	biolink:NamedThing			mondoexuq1wtf																														
DOID:4488	biolink:NamedThing			mondoexuq1wtf																														
DOID:1192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188735005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614916	biolink:NamedThing			mondoexuq1wtf																														
DOID:3320	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:720	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565340	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565856	biolink:NamedThing			mondoexuq1wtf																														
DOID:172	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012488	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191777000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90828009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003860	biolink:NamedThing			mondoexuq1wtf																														
DOID:5567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267699004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126686005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1902	biolink:NamedThing			mondoexuq1wtf																														
DOID:5482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26704	biolink:NamedThing			mondoexuq1wtf																														
DOID:3193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398831006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5370000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78999002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061299	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050432	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187755009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200908008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156411003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697907008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332149	biolink:NamedThing			mondoexuq1wtf																														
DOID:3459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443439001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50563003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721573003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238092004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307502000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D025063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64233004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190235005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1458155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8299006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726349006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155422008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42994005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61493004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75478009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850864	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79631006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191688000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205655003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040479	biolink:NamedThing			mondoexuq1wtf																														
DOID:125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260570	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123309000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518329	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043693	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203523006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835172	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931256	biolink:NamedThing			mondoexuq1wtf																														
DOID:14397	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538156	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722690001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050957	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618120	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190293001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254878006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536133	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2228	biolink:NamedThing			mondoexuq1wtf																														
DOID:2222	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020024	biolink:NamedThing	obsolete rare infertility	Rare infertility.	mondoexuq1wtf	rare infertility|rare infertility disorder			MONDO:0005047						True		UMLS:CN227735|Orphanet:98047														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192581001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004421	biolink:NamedThing			mondoexuq1wtf																														
DOID:1776	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:512017	biolink:NamedThing			mondoexuq1wtf																														
DOID:5165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536149	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69082	biolink:NamedThing			mondoexuq1wtf																														
DOID:8352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110407	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765046002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335419	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428061005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295140	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155638006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118611004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110770	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3723	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535286	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011472	biolink:NamedThing			mondoexuq1wtf																														
DOID:8420	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225411	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1959632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188337000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194819001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060359	biolink:NamedThing			mondoexuq1wtf																														
DOID:8618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713646001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180074	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050960	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050677	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:527450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752078	biolink:NamedThing			mondoexuq1wtf																														
DOID:13274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715341003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235658000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348782	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44462005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37214009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004610	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3898	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155334001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610926	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931268	biolink:NamedThing			mondoexuq1wtf																														
DOID:582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175500	biolink:NamedThing			mondoexuq1wtf																														
DOID:4492	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014736	biolink:NamedThing			mondoexuq1wtf																														
DOID:700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270494003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83886009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/580000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300064	biolink:NamedThing			mondoexuq1wtf																														
DOID:3121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050664	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52636001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295138	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:999000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186393009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307219002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2092003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293888	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279792	biolink:NamedThing			mondoexuq1wtf																														
DOID:11197	biolink:NamedThing			mondoexuq1wtf																														
DOID:3729	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537516	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717772000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614083	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36742000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238688	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274345	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128636006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011757	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553941	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193570009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25766007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225348	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070535	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312863	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564269	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110316	biolink:NamedThing			mondoexuq1wtf																														
DOID:3186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615439	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050908	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080329	biolink:NamedThing			mondoexuq1wtf																														
DOID:3488	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154694003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190566000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129718	biolink:NamedThing			mondoexuq1wtf																														
DOID:5463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15244003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254781005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537312	biolink:NamedThing			mondoexuq1wtf																														
DOID:1570	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/537148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371412008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155203002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35795	biolink:NamedThing			mondoexuq1wtf																														
DOID:6958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887645	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110993	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192884004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194194008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155352	biolink:NamedThing			mondoexuq1wtf																														
DOID:13329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95752007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7300000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66624	biolink:NamedThing			mondoexuq1wtf																														
DOID:6812	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155449008	biolink:NamedThing			mondoexuq1wtf																														
DOID:768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609580007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806745	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212999007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189247009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187664006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020100	biolink:NamedThing	obsolete rare hemolytic anemia	Rare hemolytic anemia.	mondoexuq1wtf	rare hemolytic anemia			MONDO:0003664			UMLS:C0002878			True		Orphanet:98363														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403820003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191325008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1142139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128207002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162532	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060766	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049933	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002324	biolink:NamedThing	obsolete enamel erosion		mondoexuq1wtf						obsolete as not a disease				True		ICD9:521.31|DOID:2497																		owl:Class
DOID:2497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359747000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80963002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615412	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91935009	biolink:NamedThing			mondoexuq1wtf																														
DOID:457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240196003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95414005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540850	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020031	biolink:NamedThing	obsolete rare tumor	Rare disease of cellular proliferation.	mondoexuq1wtf	rare disease of cellular proliferation|rare neoplasm|rare neoplasm (disease)			MONDO:0005070			UMLS:C0375111			True		Orphanet:98057														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
OBO:mondo#other_hierarchy	biolink:NamedThing			mondoexuq1wtf						A bin for classes that are likely not diseases and may be moved to a separate hierarchy																								owl:AnnotationProperty
UMLS:C0398623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0678202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:87876	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68575007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224410	biolink:NamedThing			mondoexuq1wtf																														
DOID:14512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128415001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399329002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93761005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4385	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015918	biolink:NamedThing	obsolete rare neurodegenerative disease	Rare neurodegenerative disease.	mondoexuq1wtf	rare neurodegenerative disease			MONDO:0005559			UMLS:C0524851			True		Orphanet:182070														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:99856	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699649006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115196	biolink:NamedThing			mondoexuq1wtf																														
DOID:3371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190020000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193103003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019298	biolink:NamedThing	obsolete rare urticaria	Rare urticaria.	mondoexuq1wtf	rare hives|rare urticaria (disease)|rare urticaria			MONDO:0005492		This class may be obsoleted in future. Note that ORDO classifies this as rare allergic disease, but urticara may be autoimmune	UMLS:C0042109			True		Orphanet:79384														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0344487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193945000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766820007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931182	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:576349	biolink:NamedThing			mondoexuq1wtf																														
DOID:10471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377613	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155059003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89906000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314473	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070096	biolink:NamedThing			mondoexuq1wtf																														
DOID:731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93255008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:29207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50047001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238118002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89010004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970196	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C51224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279626	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403767009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92264007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535852	biolink:NamedThing			mondoexuq1wtf																														
DOID:3499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92021007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10639003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1539956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038539	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024106	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266495008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203657	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1695150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73676002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268300003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129635004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48180002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202840002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4497	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266315008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387742006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715908008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192393009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155655005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015549	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038018	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126566	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449826002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204965	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020762	biolink:NamedThing			mondoexuq1wtf																														
DOID:14283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187726001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94455000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198407008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238265	biolink:NamedThing			mondoexuq1wtf																														
DOID:9249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333502	biolink:NamedThing			mondoexuq1wtf																														
DOID:11044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155931002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198315005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840647	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020271	biolink:NamedThing	obsolete phakomatosis with eye involvement		mondoexuq1wtf										True		Orphanet:98701																		owl:Class
SNOMEDCT:191859004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613828	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398716006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1631066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853220	biolink:NamedThing			mondoexuq1wtf																														
DOID:467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204405005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537037	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2004487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397514009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200938002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1192004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27051	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564118	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155060008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536418	biolink:NamedThing			mondoexuq1wtf																														
DOID:13448	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617953	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370967009	biolink:NamedThing			mondoexuq1wtf																														
DOID:9339	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002270	biolink:NamedThing			mondoexuq1wtf																														
DOID:4141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59068006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269606007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280623	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232016005	biolink:NamedThing			mondoexuq1wtf																														
DOID:13046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435804	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:482606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237681002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36053	biolink:NamedThing			mondoexuq1wtf																														
DOID:11029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156034000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613676	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2348239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419645003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99879	biolink:NamedThing			mondoexuq1wtf																														
DOID:1205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297238008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2720434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002312	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0013001	biolink:NamedThing	obsolete synesthesia		mondoexuq1wtf	synesthesia|Synsth					This is not a disease, and may be obsoleted or moved to another hierarchy				True		MESH:C562460|OMIM:612759														https://github.com/monarch-initiative/mondo/issues/1688				owl:Class
MESH:C562460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1680	biolink:NamedThing			mondoexuq1wtf																														
DOID:11383	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069517	biolink:NamedThing			mondoexuq1wtf																														
DOID:3179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154376000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254211001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84002002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015114	biolink:NamedThing	obsolete rare parenchymal liver disease		mondoexuq1wtf				MONDO:0000001						True		UMLS:CN197471|Orphanet:101939														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN197471	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439881	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199993	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118980	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186867005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278927005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027543	biolink:NamedThing			mondoexuq1wtf																														
DOID:10254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155551009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254265001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84017003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155042008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50150000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206648	biolink:NamedThing			mondoexuq1wtf																														
DOID:10188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725028009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98905	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268880009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858210	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128923008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531699	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017241	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766870005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448668007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254044004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69494008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155975003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93716006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15417005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:486815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93164	biolink:NamedThing			mondoexuq1wtf																														
DOID:6286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675478	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98989	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057135	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398088	biolink:NamedThing			mondoexuq1wtf																														
DOID:7961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C572845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008775	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717799003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:316841006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202725	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479319	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:310605004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20848007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154078	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414653009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191830	biolink:NamedThing			mondoexuq1wtf																														
DOID:1328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93811007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234422006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7180009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302226006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:522077	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404054005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190562003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267532	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89112009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719840003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764524005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604922	biolink:NamedThing			mondoexuq1wtf																														
DOID:9682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2844004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126537000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266335009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34908	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6900	biolink:NamedThing			mondoexuq1wtf																														
DOID:10782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234538002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723449004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717224002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254669003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608645	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718719001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335127	biolink:NamedThing			mondoexuq1wtf																														
DOID:1759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730298	biolink:NamedThing			mondoexuq1wtf																														
DOID:8410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15285008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225667	biolink:NamedThing			mondoexuq1wtf																														
DOID:11589	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336030	biolink:NamedThing			mondoexuq1wtf																														
DOID:1397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398980	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109983007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235873001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456517	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431376	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614028	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14168008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:252991009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79149	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36874002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69116000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187672008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266535008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:200	biolink:NamedThing			mondoexuq1wtf																														
DOID:7435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55342001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193935002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38716007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237115002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157758001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158718001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676724	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64905009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861861	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23513009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031052	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7725	biolink:NamedThing			mondoexuq1wtf																														
DOID:10648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266368002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847831	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044219	biolink:NamedThing	obsolete blood group, duffy system	The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}).	mondoexuq1wtf	blood group, DUFFY system|FY|Plasmodium vivax, resistance to|Duffy blood Group system					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:110700																		owl:Class
UMLS:C1970105	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016511	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158318003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190527008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190642003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98455	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193316008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613789	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204145006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205418005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003469	biolink:NamedThing			mondoexuq1wtf																														
DOID:3690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703220002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724279004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369873	biolink:NamedThing			mondoexuq1wtf																														
DOID:1458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391848	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209041	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405943005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585442	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99054	biolink:NamedThing			mondoexuq1wtf																														
DOID:5913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29248006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155643004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157008000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186780002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278040002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189343006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154404004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864946	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0863015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201594004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187373005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156928009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48130008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037277	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63373002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21897009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60876000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199251	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015680	biolink:NamedThing	obsolete rare pervasive developmental disorder	Rare pervasive developmental disorder.	mondoexuq1wtf	rare ASD|rare PDD|rare autism spectrum disorder|rare pervasive developmental disorder			MONDO:0000594			ICD10:F84.0|ICD10:F84.5|ICD10:F84.4|ICD10:F84.9|MESH:D002659|MedDRA:10061345|ICD10:F84.8|ICD10:F84.2|UMLS:C0524528|ICD10:F84.3|ICD10:F84.1			True		Orphanet:168778														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/Orphanet/ORDO/issues/21				owl:Class
DOID:0050806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79480	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019014	biolink:NamedThing	obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques		mondoexuq1wtf				MONDO:0100296		Split this term to create new OMIMPS and child.				True																https://github.com/monarch-initiative/mondo/issues/2758				owl:Class
DOID:0080603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155202007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205632001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111245009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154458008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131631	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515310	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022732	biolink:NamedThing	obsolete chorea minor		mondoexuq1wtf						obsoleted in source				True		GARD:0006057														https://github.com/monarch-initiative/mondo/issues/2749|https://rarediseases.info.nih.gov/diseases/6057/chorea-minor				owl:Class
UMLS:C0152113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34042008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73147001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005274	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:1786	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN902091	biolink:NamedThing			mondoexuq1wtf																														
DOID:13226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765435009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251957	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565630	biolink:NamedThing			mondoexuq1wtf																														
DOID:8243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35607004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703828003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165508008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55130001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128540005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188533000	biolink:NamedThing			mondoexuq1wtf																														
MESH:NoID	biolink:NamedThing			mondoexuq1wtf																														
DOID:6687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3520	biolink:NamedThing			mondoexuq1wtf																														
DOID:655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79366	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748796	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237659007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111098	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580047	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343633	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34593	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562732	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81996005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196912006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62192003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267761002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35045004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58170007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2320	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286936006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39462005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254688	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155665004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255002002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62837005	biolink:NamedThing			mondoexuq1wtf																														
DOID:178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509918	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254026007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267467004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43680000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613254	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537856	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186913003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060295	biolink:NamedThing			mondoexuq1wtf																														
DOID:4948	biolink:NamedThing			mondoexuq1wtf																														
DOID:2377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67801009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202905002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0702166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608895	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018038	biolink:NamedThing	obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells		mondoexuq1wtf										True		Orphanet:331232																		owl:Class
NCIT:C6983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39882	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236432001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22352007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310676	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060384	biolink:NamedThing			mondoexuq1wtf																														
DOID:4465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154796005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702339001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853294	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128729004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154842002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191352003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193938000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:900006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93126	biolink:NamedThing			mondoexuq1wtf																														
DOID:9188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4181	biolink:NamedThing			mondoexuq1wtf																														
DOID:8158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194209004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610623	biolink:NamedThing			mondoexuq1wtf																														
DOID:7736	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110097	biolink:NamedThing			mondoexuq1wtf																														
DOID:9192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110904	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709018004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148824	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267452003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718220008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240773008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765753004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:20	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123294004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18085000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275446004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86514004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266184007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842983	biolink:NamedThing			mondoexuq1wtf																														
DOID:1984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537659	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0950122	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75382	biolink:NamedThing			mondoexuq1wtf																														
DOID:13948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2391001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398934	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835865	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201271001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4631006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149530	biolink:NamedThing			mondoexuq1wtf																														
DOID:4522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1513001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254677004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139414	biolink:NamedThing			mondoexuq1wtf																														
DOID:3710	biolink:NamedThing			mondoexuq1wtf																														
DOID:682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236803007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254881	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158360	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9382	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011693	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070013	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1586004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274737001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697897003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41364008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1283400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51169003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193992001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25081006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194794002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344530	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605040	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C51223	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435329	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618265	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300884	biolink:NamedThing			mondoexuq1wtf																														
DOID:3426	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193204000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186104004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610227	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021062	biolink:NamedThing	obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary		mondoexuq1wtf				MONDO:0016382						True		UMLS:CN203514|Orphanet:306539																		owl:Class
UMLS:C0155265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616415	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008133	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68779003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191482	biolink:NamedThing			mondoexuq1wtf																														
DOID:1712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618578	biolink:NamedThing			mondoexuq1wtf																														
DOID:4060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2825741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93297	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018287	biolink:NamedThing	obsolete congenital disorder of glycosylation with epilepsy as a major feature		mondoexuq1wtf	CDG with epilepsy as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371071														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
ORPHA:371071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347228	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266215	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717047007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95443	biolink:NamedThing			mondoexuq1wtf																														
DOID:223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517128	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566795	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240173003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197987004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409562009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13810	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050846	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111114	biolink:NamedThing			mondoexuq1wtf																														
DOID:6936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111499002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312925009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9417000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237911005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5848	biolink:NamedThing			mondoexuq1wtf																														
DOID:3012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611942	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060328	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271425001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537770	biolink:NamedThing			mondoexuq1wtf																														
DOID:9723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55647004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19972008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266501005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024217	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314632	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464336	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615892	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95412009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158252	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006429	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:167279003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722061006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13072	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018817	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C4055342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134207000	biolink:NamedThing			mondoexuq1wtf																														
DOID:252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002173	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189781004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859327	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204373000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750355	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016780	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015139	biolink:NamedThing	obsolete rare epilepsy	Rare epilepsy.	mondoexuq1wtf	rare epilepsy			MONDO:0005027			ICD10:G40.9|ICD10:G40.3|ICD10:G40.8|UMLS:C0014544|ICD10:G40.4|ICD10:G40.0|ICD10:G40.1|ICD10:G40.6|ICD10:G40.2|ICD10:G40.5|ICD10:G40.7			True		UMLS:CN244924|Orphanet:101998														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:235916001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82212003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027134	biolink:NamedThing			mondoexuq1wtf																														
DOID:5170	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716772007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862956	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C151898	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL378224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766876004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128814006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836765	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262890	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567479	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369962	biolink:NamedThing			mondoexuq1wtf																														
DOID:2839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154483008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702368000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189701002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832590	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1092381000119100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267859000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540453	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12409	biolink:NamedThing			mondoexuq1wtf																														
DOID:6804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200889001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92466006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036063	biolink:NamedThing			mondoexuq1wtf																														
DOID:14699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64226004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763624007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3696898	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564254	biolink:NamedThing			mondoexuq1wtf																														
DOID:1996	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763316006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN795020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427481004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703533007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254888007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346347	biolink:NamedThing			mondoexuq1wtf																														
DOID:2378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134166003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312514006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268070006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240877000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616324	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN016627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834969	biolink:NamedThing			mondoexuq1wtf																														
DOID:999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835698	biolink:NamedThing			mondoexuq1wtf																														
DOID:7868	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26117009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267430007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7620006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77430005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614875	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563336	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98297	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98716	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86309	biolink:NamedThing			mondoexuq1wtf																														
DOID:5845	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497757	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269643009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535476	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202171	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014806	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3218	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619201	biolink:NamedThing			mondoexuq1wtf																														
DOID:14188	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156188008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236033	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96160	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725394006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81004002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397729009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50642008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35387008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195368003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75543006	biolink:NamedThing			mondoexuq1wtf																														
DOID:265	biolink:NamedThing			mondoexuq1wtf																														
DOID:3120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:209241006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137935	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123249005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3147085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713417000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31297008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1335005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127020005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54443001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195181000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304641	biolink:NamedThing			mondoexuq1wtf																														
DOID:5258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269603004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5679	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227785	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002640	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266318005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237121003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537907	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3698	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254150007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269652000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1692886	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567137	biolink:NamedThing			mondoexuq1wtf																														
DOID:1294	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6761	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4980	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2472002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700062000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266476001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4015	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79305	biolink:NamedThing			mondoexuq1wtf																														
DOID:10329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31712002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931132	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041466	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237603002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186865002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54057	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2119	biolink:NamedThing			mondoexuq1wtf																														
DOID:14717	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263352	biolink:NamedThing			mondoexuq1wtf																														
DOID:2265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193268004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84571	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537157	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79134	biolink:NamedThing			mondoexuq1wtf																														
DOID:4697	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016314	biolink:NamedThing	obsolete rare carcinoma of pancreas	Rare pancreatic carcinoma.	mondoexuq1wtf	rare exocrine pancreatic carcinoma|rare pancreatic carcinoma			MONDO:0005192			UMLS:C0235974|MedDRA:10033604|MedDRA:10033609|MESH:D010190|UMLS:C0346647			True		Orphanet:217074|UMLS:CN201130														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:217074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196305005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564895	biolink:NamedThing			mondoexuq1wtf																														
DOID:12927	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0014709	biolink:NamedThing	obsolete Heimler syndrome 2		mondoexuq1wtf	peroxisome biogenesis disorder 4C|Heimler syndrome type 2|Heimler syndrome 2|HMLR2|HEIMLER syndrome 2	out of scope					MONDO:0100263			True		OMIM:616617|UMLS:C4225267|DOID:0080624														https://github.com/monarch-initiative/mondo/issues/3222				owl:Class
DOID:0080624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931539	biolink:NamedThing			mondoexuq1wtf																														
DOID:5176	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29792007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615872	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80956002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766710005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204108000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617948	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013238	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155169006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155528009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220993	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060368	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017000	biolink:NamedThing	obsolete X chromosome number anomaly with female phenotype		mondoexuq1wtf										True		Orphanet:263717																		owl:Class
NCIT:C61257	biolink:NamedThing			mondoexuq1wtf																														
DOID:3925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611040	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93471006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19311003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854466	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15182000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27020	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94098005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86959002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445492005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203402	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10690002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255085003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255109008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120456	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090065	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254735005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617442	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266213004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281562007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858593	biolink:NamedThing			mondoexuq1wtf																														
DOID:10584	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3035	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/520100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14527007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13144005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448286002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553977	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C63743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191374009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62201009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609299	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3713420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189582009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69291002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9477	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111635	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707742001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126859007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324703	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020183	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93585	biolink:NamedThing			mondoexuq1wtf																														
DOID:3675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196164004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155590008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18756002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020097	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002393	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0014848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75049004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267760001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35868009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443892003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432551	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015888	biolink:NamedThing	obsolete other rare diabetes mellitus		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		UMLS:CN226773|Orphanet:181381														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
DOID:12449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203747002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155363	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188743000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931741	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000153	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26138003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4760579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267552000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63402005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268940	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3601	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240035004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006689	biolink:NamedThing	obsolete carcinoid syndrome		mondoexuq1wtf				MONDO:0100347						True																https://github.com/monarch-initiative/mondo/issues/2827				owl:Class
NCIT:C4752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763775000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206605	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314515006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707374005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956257	biolink:NamedThing			mondoexuq1wtf																														
DOID:205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN030711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020604	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014801	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851100	biolink:NamedThing			mondoexuq1wtf																														
DOID:4624	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194243008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217581	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199502	biolink:NamedThing			mondoexuq1wtf																														
MESH:D041882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN232144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524801	biolink:NamedThing			mondoexuq1wtf																														
DOID:10368	biolink:NamedThing			mondoexuq1wtf																														
DOID:9561	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016247	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1511197	biolink:NamedThing			mondoexuq1wtf																														
DOID:10841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111490	biolink:NamedThing			mondoexuq1wtf																														
DOID:1253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91861009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404082003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84988	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336522	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015867	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037138	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154370006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN028786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386762009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2912	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004916	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0110515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156394009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2482	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057180	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722210007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156514009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715902009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2314897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4892003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195191006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206354001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017606	biolink:NamedThing			mondoexuq1wtf																														
DOID:3907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266334008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295114	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069664	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153612	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65323003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57160007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3496228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4331262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040028	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673686	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614113	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92643000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723383005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:322769008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34571000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002395	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:1008095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155565006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236407003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:38	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195117009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197397004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198139007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193464000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072223	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53772007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154286002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007169	biolink:NamedThing			mondoexuq1wtf																														
DOID:10892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92170008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061023	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537428	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34453	biolink:NamedThing			mondoexuq1wtf																														
DOID:10520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112500	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720401009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208540	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238631008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868594	biolink:NamedThing			mondoexuq1wtf																														
DOID:626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191617002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835403	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329967	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1843008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344679	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:92050	biolink:NamedThing			mondoexuq1wtf																														
DOID:9278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838655	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020187	biolink:NamedThing	obsolete eyelashes hypertrophy		mondoexuq1wtf	eyelashes trichomegalia|eyelashes polytrichia									True		Orphanet:98597														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
SNOMEDCT:43916004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92129006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007386	biolink:NamedThing	obsolete human coronavirus sensitivity		mondoexuq1wtf	Coronavirus 229E susceptibility|HCVS|human coronavirus sensitivity									True		OMIM:122460																		owl:Class
http://identifiers.org/omim/122460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232457008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232461002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155274009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844836	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614691	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110669	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334771	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014814	biolink:NamedThing			mondoexuq1wtf																														
DOID:12700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079154	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155497009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126977003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36773001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290884	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060751	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116819	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012536	biolink:NamedThing			mondoexuq1wtf																														
DOID:9212	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166038	biolink:NamedThing			mondoexuq1wtf																														
DOID:6193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18881008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429233001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155506009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198252008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192395002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012523	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057792	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6419	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562477	biolink:NamedThing			mondoexuq1wtf																														
DOID:13912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295130	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267370001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196358000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618223	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536909	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538364	biolink:NamedThing			mondoexuq1wtf																														
DOID:709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207443	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90823000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157835	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84725	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1427106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193523008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956396	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72658003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155179008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200549	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10288008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196576008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280283	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864746	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019099	biolink:NamedThing	obsolete rare soft tissue tumor	Any of the forms of soft tissue neoplasm that have a rare incidence.	mondoexuq1wtf	rare mesenchymal tumor|rare soft tissue neoplasm			MONDO:0006424			UMLS:C0037579			True		Orphanet:71209														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C536752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74445007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511339	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567402	biolink:NamedThing			mondoexuq1wtf																														
DOID:11349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152105	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015319	biolink:NamedThing	obsolete rare disease with Pierre Robin syndrome		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0031900			True		UMLS:CN199290|Orphanet:138044														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:196255004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846172	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34477	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150852	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156482001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6777	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN515063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4155	biolink:NamedThing			mondoexuq1wtf																														
DOID:3419	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230332007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96173	biolink:NamedThing			mondoexuq1wtf																														
DOID:3275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4039473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609515005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57158005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387637008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205584004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827361	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562618	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34550005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188509006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7251008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715820004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720419000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84758004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931183	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84669	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617669	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320365	biolink:NamedThing			mondoexuq1wtf																														
DOID:6992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154995000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699688008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28119000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2721586	biolink:NamedThing			mondoexuq1wtf																														
DOID:7439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844560	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193075	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3403	biolink:NamedThing			mondoexuq1wtf																														
DOID:1925	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272414	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203145	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050544	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274950005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108979	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95896000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733096007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134304005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168564	biolink:NamedThing			mondoexuq1wtf																														
DOID:5588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42	biolink:NamedThing			mondoexuq1wtf																														
DOID:150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197658002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123729	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702373006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68270003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9514005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188206003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156370009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038587	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002805	biolink:NamedThing			mondoexuq1wtf																														
DOID:2698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186126003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109493006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154388003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201306008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852456	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155158008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198067000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151356	biolink:NamedThing			mondoexuq1wtf																														
DOID:14218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763318007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617113	biolink:NamedThing			mondoexuq1wtf																														
DOID:11718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155926	biolink:NamedThing			mondoexuq1wtf																														
DOID:11705	biolink:NamedThing			mondoexuq1wtf																														
DOID:5293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84908	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535647	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225323	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191607007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90424004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253096008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302838006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128344	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025391	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141127	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266654000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204768009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281867008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52089001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98851	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33513003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73260	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4664	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006895	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567906	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187056001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274210	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118618005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725146001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254737002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600204	biolink:NamedThing			mondoexuq1wtf																														
DOID:11054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10893003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186974004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188194001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197654000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070161	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62660000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949658	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535673	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723584003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57207003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3538	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1762	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044283	biolink:NamedThing	obsolete body mass index quantitative trait locus 18		mondoexuq1wtf	BMIQ18|body MASS index quantitative trait locus 18|obesity, susceptibility to					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:615457																		owl:Class
UMLS:C3714940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190977001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416769008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766053003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58220003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008906	biolink:NamedThing	obsolete carbimazole sensitivity		mondoexuq1wtf	carbimazole sensitivity									True		OMIM:212060																		owl:Class
http://identifiers.org/omim/212060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115197	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008585	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564159	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609423	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196069007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022790	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27511	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280583	biolink:NamedThing			mondoexuq1wtf																														
DOID:10593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155515002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209059	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616922	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616854	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268310007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618723	biolink:NamedThing			mondoexuq1wtf																														
DOID:2471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114906	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254582000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348165	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:572798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113144	biolink:NamedThing			mondoexuq1wtf																														
DOID:1426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189812005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98987	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58588007	biolink:NamedThing			mondoexuq1wtf																														
DOID:302	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9305	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042454	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710096	biolink:NamedThing			mondoexuq1wtf																														
DOID:468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261638	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006837	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101082	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193873002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721219005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021219	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1843758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832826	biolink:NamedThing			mondoexuq1wtf																														
DOID:13365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38196001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230698000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1794009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703267003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7160	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186664000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023772	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137634	biolink:NamedThing			mondoexuq1wtf																														
DOID:14671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718769009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265318	biolink:NamedThing			mondoexuq1wtf																														
DOID:3517	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535276	biolink:NamedThing			mondoexuq1wtf																														
DOID:4491	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195694004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51780007	biolink:NamedThing			mondoexuq1wtf																														
DOID:986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237701005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45781009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267842005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201097003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40369	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204153003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61262	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022735	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154361008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562627	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562988	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3441005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:525731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155053002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226638	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763865009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49047003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191818005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763834000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268308005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66845	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363009005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0405471	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017728	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279584	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084843	biolink:NamedThing			mondoexuq1wtf																														
DOID:13031	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0042978	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MEDDRA:10056893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188522003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136880	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:58220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99871	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275227	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616831	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015510	biolink:NamedThing	obsolete rare genetic respiratory disease	Rare genetic respiratory system disease.	mondoexuq1wtf	rare genetic respiratory system disease			MONDO:0005087						True		UMLS:CN199643|Orphanet:156610														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0060025	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005598	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241520	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310796	biolink:NamedThing			mondoexuq1wtf																														
DOID:3999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65974003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202849001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006079	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040089	biolink:NamedThing			mondoexuq1wtf																														
DOID:11981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31268005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28314004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1897	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000559	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:25889007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268047003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254642004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111034	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020008	biolink:NamedThing	obsolete rare immune disease	Rare immune system disease.	mondoexuq1wtf	rare immune system disease			MONDO:0005046						True		Orphanet:98004|UMLS:CN206942														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/220900	biolink:NamedThing			mondoexuq1wtf																														
DOID:5501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39127005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019491	biolink:NamedThing	obsolete rare intellectual disability	Rare intellectual disability.	mondoexuq1wtf	rare intellectual disability			MONDO:0001071						True		Orphanet:87277|UMLS:CN227638														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C85193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13445001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719257008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151200	biolink:NamedThing			mondoexuq1wtf																														
DOID:13608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119522002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78622004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716191002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716787002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186237005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84551	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110959	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536588	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372143007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931643	biolink:NamedThing			mondoexuq1wtf																														
DOID:13100	biolink:NamedThing			mondoexuq1wtf																														
DOID:93	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865998	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14094001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4331310	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156080003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192531005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142071000119101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48686	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562678	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060367	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4828	biolink:NamedThing			mondoexuq1wtf																														
DOID:6627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110034	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110025	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188745007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24079001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2584877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60002000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266527005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564793	biolink:NamedThing			mondoexuq1wtf																														
DOID:14323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267496003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716863007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0872218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126969002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:956	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197445007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3310	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015432	biolink:NamedThing			mondoexuq1wtf																														
DOID:3718	biolink:NamedThing			mondoexuq1wtf																														
DOID:9640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55822004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8978	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618910	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002690	biolink:NamedThing			mondoexuq1wtf																														
DOID:3668	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37821003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269634000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:224186005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154683002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198165006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:316240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536414	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255032005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424440001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839911	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235623002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723367005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206861007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:301	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25739007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154662008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64156001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563715	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110245	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66972006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9078005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853863	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63451008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853226	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862382	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158683	biolink:NamedThing			mondoexuq1wtf																														
DOID:13386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88052002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47374004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186984003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154963001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155200	biolink:NamedThing			mondoexuq1wtf																														
DOID:5433	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050927	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231906002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716648006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36601	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724093004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37754005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191599006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91481	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255210	biolink:NamedThing			mondoexuq1wtf																														
DOID:5378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722675000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733447005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480528	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007592	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3945	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331193	biolink:NamedThing			mondoexuq1wtf																														
DOID:11155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123031	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128788005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721146009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724136006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157029009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702393003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87827003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335060	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195350001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423092005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13706005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:39041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193367006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193658001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:40366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725390002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014795	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58759008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66696003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014993	biolink:NamedThing			mondoexuq1wtf																														
DOID:5338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84048006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110854	biolink:NamedThing			mondoexuq1wtf																														
DOID:7949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1322252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150899	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018457	biolink:NamedThing	obsolete rare genetic bone development disorder		mondoexuq1wtf	rare genetic skeletal development disorder	MONDO:outOfScope								True		UMLS:CN227376|Orphanet:404584														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN227376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866636	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018286	biolink:NamedThing			mondoexuq1wtf																														
DOID:12889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7764	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35319	biolink:NamedThing			mondoexuq1wtf																														
DOID:11721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601976	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12371008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76623002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38247002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833798	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4756	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33339001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193222002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715656004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54920000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231573	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:366831005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733451007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171881	biolink:NamedThing			mondoexuq1wtf																														
DOID:1933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156364003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2173	biolink:NamedThing			mondoexuq1wtf																														
DOID:11211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87819007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193046	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3026	biolink:NamedThing			mondoexuq1wtf																														
DOID:9848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334587	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45369008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154554008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019195	biolink:NamedThing			mondoexuq1wtf																														
DOID:10031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263570	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614813	biolink:NamedThing			mondoexuq1wtf																														
DOID:6575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275417	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050711	biolink:NamedThing			mondoexuq1wtf																														
DOID:2763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180157	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720747002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12630008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348999	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199634	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718602007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193236007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13404009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267603007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154782004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266436006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724171006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87614000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766237006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194125000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008579	biolink:NamedThing			mondoexuq1wtf																														
DOID:12191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191309003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202883	biolink:NamedThing			mondoexuq1wtf																														
DOID:5325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839708	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25324008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240500	biolink:NamedThing			mondoexuq1wtf																														
DOID:3234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111620	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012618	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277569004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205074	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538349	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069441	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110452	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060408	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156426001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128916007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35614	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765142003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342190	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567372	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3828832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864861	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110954	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251066	biolink:NamedThing			mondoexuq1wtf																														
DOID:4876	biolink:NamedThing			mondoexuq1wtf																														
DOID:6270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846474	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:434786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155205009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126876	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764847000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2776	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53428005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90623003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5645008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84596	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002318	biolink:NamedThing			mondoexuq1wtf																														
DOID:5303	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5190	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028095	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313267000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846145	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254968009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27538	biolink:NamedThing			mondoexuq1wtf																														
DOID:5716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710095	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017631	biolink:NamedThing	obsolete rare tumor of gallbladder and extrahepatic biliary tract		mondoexuq1wtf	rare tumor of gallbladder and EBT	MONDO:outOfScope				Editor note: TODO				True		Orphanet:306633|UMLS:C0750952														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:306633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538138	biolink:NamedThing			mondoexuq1wtf																														
DOID:12445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267437005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050917	biolink:NamedThing			mondoexuq1wtf																														
DOID:2590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154449001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266187000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422504002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25239006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85110	biolink:NamedThing			mondoexuq1wtf																														
DOID:13722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58437007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266647006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602400	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349669	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563649	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834929	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013589	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536855	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98976	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60363000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1180	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615513	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255182002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566706	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605282	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73297009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86266009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181460	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147530	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200959009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536416	biolink:NamedThing			mondoexuq1wtf																														
DOID:7807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234556002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0404479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856305	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417475006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18687009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009769	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205323	biolink:NamedThing			mondoexuq1wtf																														
DOID:6139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155009007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186310006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019097	biolink:NamedThing	obsolete hemorrhagic disorder due to a constitutional platelet anomaly	A hemorrhagic disorder due to a platelet anomaly which occurs from birth.	mondoexuq1wtf	rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare coagulopathy due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a constitutional platelet anomaly	MONDO:outOfScope					ICD10:D69.1			True		Orphanet:71202|UMLS:CN227572														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C34506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612227	biolink:NamedThing			mondoexuq1wtf																														
DOID:10155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187300	biolink:NamedThing			mondoexuq1wtf																														
DOID:4233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698272007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93451002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4528	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238039006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266633007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111407006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74751003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111359004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724138007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236719005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188800003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68738004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335398	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001251	biolink:NamedThing			mondoexuq1wtf																														
DOID:13160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562787	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050617	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054312	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208444	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189979005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612783	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278847	biolink:NamedThing			mondoexuq1wtf																														
DOID:11100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32984002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016645	biolink:NamedThing	obsolete rare neoplastic disease	Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature.	mondoexuq1wtf	rare tumoral disease|rare neoplastic disease|rare neoplastic disease or syndrome|rare neoplasm|rare neoplasm (disease)			MONDO:0023370						True		UMLS:CN201870|Orphanet:250908														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:363399006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46619002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719838008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281373	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809634	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445507008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119249001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207040	biolink:NamedThing			mondoexuq1wtf																														
DOID:4724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93962006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126839008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237619009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234142008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015235	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26828	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26977	biolink:NamedThing			mondoexuq1wtf																														
DOID:8893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45281005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80773006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202633	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13601005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46459009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275277	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000161	biolink:NamedThing	obsolete adrenal hyperplasia		mondoexuq1wtf	adrenal hyperplasia|obsolete adrenal hyperplasia (disease)		obsolete adrenal hyperplasia (disease)							True		DC:0000631|UMLS:C1621895																		owl:Class
UMLS:C1621895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716195006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2064409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:710010005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479344	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190038002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73230	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79373	biolink:NamedThing			mondoexuq1wtf																														
DOID:5655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4551771	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393564001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142173	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562897	biolink:NamedThing			mondoexuq1wtf																														
DOID:1428	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205258009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77164002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209056	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:401303003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74537000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45004005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142085	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931657	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600794	biolink:NamedThing			mondoexuq1wtf																														
DOID:539	biolink:NamedThing			mondoexuq1wtf																														
DOID:12972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187403007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008339	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001657	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604348	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105969002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13241	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721015008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271719001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016404	biolink:NamedThing	obsolete metabolic neurotransmission anomaly with epilepsy		mondoexuq1wtf										True		Orphanet:225707																		owl:Class
UMLS:C3553381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314994000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615726	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3978	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050424	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225377	biolink:NamedThing			mondoexuq1wtf																														
DOID:7553	biolink:NamedThing			mondoexuq1wtf																														
DOID:4877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299240	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206739	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28077	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563983	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193928005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155322009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56852002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268713007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601308	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70273001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193151006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554447	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280215	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1536500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193756007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720986005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155646007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114480	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289465	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:187	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24762001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423318000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20610004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3692	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854331	biolink:NamedThing			mondoexuq1wtf																														
DOID:9346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127345001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91441000119109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855119	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020092	biolink:NamedThing	obsolete rare idiopathic male infertility		mondoexuq1wtf		out of scope					MONDO:0005372			True		UMLS:CN227777|Orphanet:98345|ICD10:N46														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98345	biolink:NamedThing			mondoexuq1wtf																														
DOID:12148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151069	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206182	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233926006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4740000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449563	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240749000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79935000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0863027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715412008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702360007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78152008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2896	biolink:NamedThing			mondoexuq1wtf																														
DOID:1142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3501	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89449005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155015007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931872	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59238007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93942	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007039	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511203	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931642	biolink:NamedThing			mondoexuq1wtf																														
DOID:6406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717968005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017536	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389214003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27885002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68977009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247182006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82525005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715559004	biolink:NamedThing			mondoexuq1wtf																														
DOID:525	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230310003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795803	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201010002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207082	biolink:NamedThing			mondoexuq1wtf																														
DOID:222	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1094	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156027002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118639003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14689000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193097005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008220	biolink:NamedThing	obsolete pepsinogen 3, group 1		mondoexuq1wtf	PGA3|pepsinogen 3, Group type 1|pepsinogen 3, group I|pepsinogen I--second locus					This entity is not a disease.				True		OMIM:169710														https://github.com/monarch-initiative/mondo/issues/2521				owl:Class
http://identifiers.org/omim/169710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8863	biolink:NamedThing			mondoexuq1wtf																														
DOID:5516	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190592007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:180485001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718681002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155477	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619071	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733466005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46090001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0032576	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MONDO:0024269	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C4479416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193127001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333291	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0033571	biolink:NamedThing	obsolete skeletal muscle glycogen content and metabolism quantitative trait locus		mondoexuq1wtf	SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS|SMGMQTL					Not a disease.				True		OMIM:619030														https://github.com/monarch-initiative/mondo/issues/2260				owl:Class
http://identifiers.org/omim/619030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189886003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93937006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81604003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606904	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014387	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008414	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187206001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846055	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567017	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83639	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677106	biolink:NamedThing			mondoexuq1wtf																														
DOID:2992	biolink:NamedThing			mondoexuq1wtf																														
DOID:10964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203425001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190905008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448270	biolink:NamedThing			mondoexuq1wtf																														
DOID:14131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721798004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111575	biolink:NamedThing			mondoexuq1wtf																														
DOID:13949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511302	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268782006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156822009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:297	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197170002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84196008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156890007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286898006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186807008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3669	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2982	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235132004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45024009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202338	biolink:NamedThing			mondoexuq1wtf																														
DOID:3843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89366008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613217	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111392	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98846	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931251	biolink:NamedThing			mondoexuq1wtf																														
DOID:6495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66944004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C171269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151468	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34796	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57782	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:929	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:613003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839163	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535311	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195481006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126799003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050592	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054058	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838914	biolink:NamedThing			mondoexuq1wtf																														
DOID:4651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748884	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202649003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175707	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4956	biolink:NamedThing			mondoexuq1wtf																														
DOID:7212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537973	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49158009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267809	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006562	biolink:NamedThing	obsolete incontinentia pigmenti achromians		mondoexuq1wtf	incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome			MONDO:0010302						True		EFO:1000716|SCTID:218358001																		owl:Class
SNOMEDCT:218358001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041234	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363162000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601154	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725905005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205710	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201595003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207231	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155250006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673468	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536725	biolink:NamedThing			mondoexuq1wtf																														
DOID:10138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186328008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302358	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613393	biolink:NamedThing			mondoexuq1wtf																														
DOID:11338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2919755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274985	biolink:NamedThing			mondoexuq1wtf																														
DOID:11971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77507001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189933000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:682	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111508004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205072	biolink:NamedThing			mondoexuq1wtf																														
DOID:11541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64748	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567524	biolink:NamedThing			mondoexuq1wtf																														
DOID:4137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4114	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154356006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238104009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363494000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060184	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267306006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:366160003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600335	biolink:NamedThing			mondoexuq1wtf																														
DOID:7732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237268002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220702	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188765000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607602	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610965	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060815	biolink:NamedThing			mondoexuq1wtf																														
DOID:4691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020140	biolink:NamedThing	obsolete late-onset ataxia with dementia		mondoexuq1wtf										True		Orphanet:98540																		owl:Class
ORPHA:98540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861975	biolink:NamedThing			mondoexuq1wtf																														
DOID:7041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190500009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810161	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536166	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015881	biolink:NamedThing	obsolete gastroesophageal tumor	A tumor involving the gastroesophageal tissue.	mondoexuq1wtf	rare gastroesophageal tumor					Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist.				True		Orphanet:180821|UMLS:CN200488														https://github.com/monarch-initiative/mondo/issues/1760|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:598216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194362009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399294002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2680446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225309	biolink:NamedThing			mondoexuq1wtf																														
DOID:6231	biolink:NamedThing			mondoexuq1wtf																														
DOID:14068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205346006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195615002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720751000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29369005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88917	biolink:NamedThing			mondoexuq1wtf																														
DOID:12298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187110007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764521002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309742004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614819	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715722003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267695005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853297	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198057005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44001008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181437	biolink:NamedThing			mondoexuq1wtf																														
DOID:3964	biolink:NamedThing			mondoexuq1wtf																														
DOID:4603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200762004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025063	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0029001	biolink:NamedThing	obsolete chemically-induced disorder	Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.	mondoexuq1wtf	disorders, chemically-induced|chemically induced disorders|disorder, chemically-induced|chemically-induced disorder	out of scope					MONDO:0029000			True		MESH:D064419														https://github.com/monarch-initiative/mondo/issues/3414				owl:Class
MESH:D064419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10501004	biolink:NamedThing			mondoexuq1wtf																														
DOID:461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:407476002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368354	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018972	biolink:NamedThing	obsolete rare epithelial tumor of stomach		mondoexuq1wtf	rare gastric epithelial tumor	MONDO:outOfScope					MedDRA:10017758|UMLS:C0024623			True		Orphanet:63443|UMLS:CN235187														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:D000749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN895591	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012602	biolink:NamedThing			mondoexuq1wtf																														
DOID:14287	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562638	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564480	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3314	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017565	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060571	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607677	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004690	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019062	biolink:NamedThing	obsolete rare infectious disease	Rare infectious disease.	mondoexuq1wtf	rare infectious disease			MONDO:0005550						True		Orphanet:68416|UMLS:CN205543														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:21086008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007690	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700249006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0032840	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:248358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363483004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6239	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217017	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302891003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35178	biolink:NamedThing			mondoexuq1wtf																														
DOID:7603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270489003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306557	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285432005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86821	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3425	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79644	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313781	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111692	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C13271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111441	biolink:NamedThing			mondoexuq1wtf																														
DOID:6334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52486002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91131	biolink:NamedThing			mondoexuq1wtf																														
DOID:4513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618360	biolink:NamedThing			mondoexuq1wtf																														
DOID:2001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN716584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752147	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49649001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55166000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6559	biolink:NamedThing			mondoexuq1wtf																														
DOID:10206	biolink:NamedThing			mondoexuq1wtf																														
DOID:7891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269562004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54048003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254113006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238011005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155154005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25910003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154843007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855787	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395797	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205813009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193182005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18604004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93163002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135087	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535684	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016082	biolink:NamedThing	obsolete tracheo-esophageal fistula-hypospadias syndrome		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0008586			True		UMLS:CN226834|ICD10:Q87.8|Orphanet:2042																		owl:Class
ORPHA:2042	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766819001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009422	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84326006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810405	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436141	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1425796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C140264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309810002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155026001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52662	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535506	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021556	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MEDDRA:10042298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78461004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3901	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87497	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613881	biolink:NamedThing			mondoexuq1wtf																														
DOID:1509	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205510001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23502006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9414007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123157002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155488	biolink:NamedThing			mondoexuq1wtf																														
DOID:3953	biolink:NamedThing			mondoexuq1wtf																														
DOID:13922	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85051008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066802	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111502	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080140	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155811002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113950	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044229	biolink:NamedThing	obsolete epiblepharon of lower 51d		mondoexuq1wtf	epiblepharon of lower lid					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:131450																		owl:Class
http://identifiers.org/omim/131450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95491	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564127	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763477007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615400	biolink:NamedThing			mondoexuq1wtf																														
DOID:10887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734029004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111247001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77323000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111676	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165401000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230688006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91025000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253121009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193054000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186217006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100994	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110450007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715530004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003986	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:13059002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4567	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050673	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46168003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763311001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536379	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613869	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268245001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718761007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302888003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:171699006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4283894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238026007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13515	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82255004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154602005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21361000119109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37054000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121820	biolink:NamedThing			mondoexuq1wtf																														
DOID:8104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66379009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2267231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278846	biolink:NamedThing			mondoexuq1wtf																														
DOID:13641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1623209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191397007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229116	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237822008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266383007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68448003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11230	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006618	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536348	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59548005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601776	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608585	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68544003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188147009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567053	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300932000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254656002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295041	biolink:NamedThing			mondoexuq1wtf																														
DOID:11219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24559001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7364	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721711009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50325005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602482	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1214006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191199004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71273	biolink:NamedThing			mondoexuq1wtf																														
DOID:7097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110979008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411986	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403545005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27503000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229631007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43918003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537835	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614976	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275370001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026552	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267739007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203440004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0483368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194242003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254090	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016069	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0158982	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192430009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710177	biolink:NamedThing			mondoexuq1wtf																														
DOID:2885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537987	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156214	biolink:NamedThing			mondoexuq1wtf																														
DOID:339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266288001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126909004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264480	biolink:NamedThing			mondoexuq1wtf																														
DOID:11514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202855006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010245	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154728003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203492008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1802398	biolink:NamedThing			mondoexuq1wtf																														
DOID:9699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11381005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148390	biolink:NamedThing			mondoexuq1wtf																														
DOID:2689	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228418	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19076009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72079004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548084	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017189	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201230007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193078	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015113	biolink:NamedThing	obsolete rare vascular liver disease		mondoexuq1wtf				MONDO:0000001			UMLS:C0400923			True		Orphanet:101938														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:89990001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48115004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155127007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202702	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7903009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92503002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83414005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206671	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155722007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202534	biolink:NamedThing			mondoexuq1wtf																														
DOID:12574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN030519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554517	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020668	biolink:NamedThing	obsolete spastic paraplegia 5B		mondoexuq1wtf	SPG5B|moved to 270800			MONDO:0010047						True		GARD:0004917|OMIM:600146																		owl:Class
UMLS:C0016977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73430006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:324170002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3217	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015461	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129636003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62605	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28599006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85638002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17827007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399956005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89684003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312917007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51188	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24354007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086809	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206656	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2542	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068065	biolink:NamedThing			mondoexuq1wtf																														
DOID:12608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516761	biolink:NamedThing			mondoexuq1wtf																														
DOID:8628	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538185	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445059005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8023	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84681	biolink:NamedThing			mondoexuq1wtf																														
DOID:9277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720858001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37075008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722285005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150891	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6438	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194347007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026764	biolink:NamedThing			mondoexuq1wtf																														
DOID:6899	biolink:NamedThing			mondoexuq1wtf																														
MESH:D039141	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393591004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47597000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199216	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563716	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444490	biolink:NamedThing			mondoexuq1wtf																														
DOID:9822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118926004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203116001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763621004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155566007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52421005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27535	biolink:NamedThing			mondoexuq1wtf																														
DOID:4922	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607624	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204827	biolink:NamedThing			mondoexuq1wtf																														
DOID:7930	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300088	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111682	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205626006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535862	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363433009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2108396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194143001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038827	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011570	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614265	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020015	biolink:NamedThing	obsolete rare circulatory system disease	A rare form of cardiovascular disease.	mondoexuq1wtf	rare cardiovascular disease			MONDO:0004995						True		UMLS:CN206948|Orphanet:98028														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:193001003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119250001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189098009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154850006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043152	biolink:NamedThing			mondoexuq1wtf																														
DOID:4195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195486001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254462001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237571	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398963001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22611009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190863003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4925	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536572	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842839	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110453	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060152	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718910006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206886	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719302009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44697002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126719004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719666002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71478004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332276	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3265	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70528007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715903004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013338	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128082002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115244002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279070	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017644	biolink:NamedThing	obsolete rare tremor disorder		mondoexuq1wtf				MONDO:0005395						True		UMLS:CN227168|Orphanet:306712														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:716277000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007093	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:282834007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197010007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254876005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719202006	biolink:NamedThing			mondoexuq1wtf																														
DOID:866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122082	biolink:NamedThing			mondoexuq1wtf																														
DOID:11289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970470	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274149006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155146008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335037	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196375006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20365006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205920	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403835002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93668007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78856008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225197	biolink:NamedThing			mondoexuq1wtf																														
DOID:9506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9545009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721235003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62914000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605021	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154874	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84721	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566969	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000817	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:5508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C136410	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50593	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203524000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615220	biolink:NamedThing			mondoexuq1wtf																														
DOID:2460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194199003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616276	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233678006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4282128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42345000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1744559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26867	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0040797	biolink:NamedThing	obsolete vascular headache	An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS).	mondoexuq1wtf	vascular headache									True		SCTID:128187005|MESH:D014653|UMLS:C0042376																		owl:Class
MESH:D014653	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150208	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN552492	biolink:NamedThing			mondoexuq1wtf																														
DOID:7483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85746008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123076003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18348002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191817000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936256	biolink:NamedThing			mondoexuq1wtf																														
DOID:4961	biolink:NamedThing			mondoexuq1wtf																														
DOID:1352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154869001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4754008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553354	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531598	biolink:NamedThing			mondoexuq1wtf																														
DOID:3669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188563009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154974005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332190	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237948001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371405004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396060	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044232	biolink:NamedThing	obsolete fingers, relative length of		mondoexuq1wtf	fingers, relative length OF|2D:4D finger-length ratio					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:136100																		owl:Class
http://identifiers.org/omim/136100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79481	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020016	biolink:NamedThing	obsolete rare neurologic disease with psychiatric involvement		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN206949|Orphanet:98033														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C3186	biolink:NamedThing			mondoexuq1wtf																														
DOID:5032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025469	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866472	biolink:NamedThing			mondoexuq1wtf																														
DOID:10970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254778000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187868006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12033006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154577008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12469	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720864008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032541	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124327008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0032856	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/614252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156569007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751643	biolink:NamedThing			mondoexuq1wtf																														
DOID:3576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93794008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201220	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702422004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43935004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158948	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766052008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178503	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018311	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84466009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:298644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88027004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370503	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95662005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194410006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190848001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10073051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156455009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6977	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015970	biolink:NamedThing	obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200569|Orphanet:183634														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1961099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122784	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75238000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:583595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007868	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312215006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717336005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314785001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154384001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3657	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615298	biolink:NamedThing			mondoexuq1wtf																														
DOID:9095	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51118003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191019003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403936002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715464002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852454	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:225055005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274426	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020033	biolink:NamedThing	obsolete rare digestive tumor	Any of the forms of digestive system neoplasm that have a rare incidence.	mondoexuq1wtf	rare digestive neoplasm|rare digestive system neoplasm|rare digestive cancer			MONDO:0021223			UMLS:C0012243|UMLS:C0685938|UMLS:C0017185			True		Orphanet:98059|UMLS:CN206958														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/241540	biolink:NamedThing			mondoexuq1wtf																														
DOID:420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27319	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#CLINGEN_PREFERRED	biolink:NamedThing	clingen preferred		mondoexuq1wtf																														owl:AnnotationProperty
OIO:SynonymTypeProperty	biolink:NamedThing	synonym_type_property		mondoexuq1wtf																														owl:AnnotationProperty
UMLS:C0037293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191437009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334273	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111106	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35314	biolink:NamedThing			mondoexuq1wtf																														
DOID:6947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93890009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134302009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612852	biolink:NamedThing			mondoexuq1wtf																														
DOID:3766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254836000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536856	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528091	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80967001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C93045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363395000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267440005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019880	biolink:NamedThing			mondoexuq1wtf																														
DOID:6103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352675	biolink:NamedThing			mondoexuq1wtf																														
DOID:6468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123300001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204667006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4749	biolink:NamedThing			mondoexuq1wtf																														
DOID:3711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458798	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857345	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154536009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764688002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188224001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154613008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178342	biolink:NamedThing			mondoexuq1wtf																														
DOID:4938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50658006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128209004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019744	biolink:NamedThing	obsolete rare renal tubular disease	Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction.	mondoexuq1wtf	disease of renal tubule|renal tubule disease	MONDO:outOfScope					UMLS:C0151747			True		Orphanet:93603														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MESH:D001437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63339007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609939	biolink:NamedThing			mondoexuq1wtf																														
DOID:5949	biolink:NamedThing			mondoexuq1wtf																														
DOID:12385	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566681	biolink:NamedThing			mondoexuq1wtf																														
DOID:6483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406659	biolink:NamedThing			mondoexuq1wtf																														
MESH:D048089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861689	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6780	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017655	biolink:NamedThing	obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature		mondoexuq1wtf										True		Orphanet:306762														https://github.com/monarch-initiative/mondo/projects/6				owl:Class
SNOMEDCT:230422001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254806009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201441006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128778009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85218	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193233004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300216	biolink:NamedThing			mondoexuq1wtf																														
DOID:3516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857811	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795914	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565400	biolink:NamedThing			mondoexuq1wtf																														
DOID:13736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443493003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155386005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832529	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375381	biolink:NamedThing			mondoexuq1wtf																														
DOID:9462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238749001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9329	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268088003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195983001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718772002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271322	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269476000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242287	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019048	biolink:NamedThing	obsolete rare vascular disease	Any of the forms of vascular disease that have a rare incidence.	mondoexuq1wtf	rare vascular disease			MONDO:0005385			UMLS:C0042373			True		Orphanet:68362														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:157049000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1515008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397951	biolink:NamedThing			mondoexuq1wtf																														
DOID:2946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050131	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464318	biolink:NamedThing			mondoexuq1wtf																														
DOID:1461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37471005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49227001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012517	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700250006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155652	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126970001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156417004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85324003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154984006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155414001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608118	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189174004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060639	biolink:NamedThing			mondoexuq1wtf																														
DOID:4512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64635004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186688003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014868	biolink:NamedThing			mondoexuq1wtf																														
DOID:9563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410056006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187302001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538132	biolink:NamedThing			mondoexuq1wtf																														
DOID:12361	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266357002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231964001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237081003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48652	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005832	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036349	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332591	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267481002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85569008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84598000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018630	biolink:NamedThing			mondoexuq1wtf																														
DOID:11746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197839008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82286005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/57754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267411007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835042	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34726	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94071006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206976	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92386006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614192	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537637	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360507004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59990008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38549000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564237	biolink:NamedThing			mondoexuq1wtf																														
DOID:7482	biolink:NamedThing			mondoexuq1wtf																														
DOID:3875	biolink:NamedThing			mondoexuq1wtf																														
DOID:5118	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020613	biolink:NamedThing	obsolete blood group--lke		mondoexuq1wtf	Blood Group--Luke, Formerly|BLOOD GROUP--LKE|LKE|Blood Group--Luke									True		OMIM:111130																		owl:Class
UMLS:C1862216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238592008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67242002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015674	biolink:NamedThing			mondoexuq1wtf																														
DOID:11353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611897	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202681007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192486009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99819	biolink:NamedThing			mondoexuq1wtf																														
DOID:13994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237964009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194769003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193962005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65540008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70482	biolink:NamedThing			mondoexuq1wtf																														
DOID:10151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111534007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006014	biolink:NamedThing			mondoexuq1wtf																														
DOID:5637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154372003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187177001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17866004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60548004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238928005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531857	biolink:NamedThing			mondoexuq1wtf																														
DOID:12326	biolink:NamedThing			mondoexuq1wtf																														
DOID:7223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38494008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204378009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237512	biolink:NamedThing			mondoexuq1wtf																														
DOID:13565	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363681007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155395	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126877	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566832	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66729008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194071005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48813009	biolink:NamedThing			mondoexuq1wtf																														
DOID:137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74912001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254948003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2251002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765092004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123293005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269464000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89480000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10890000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191435001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237541	biolink:NamedThing			mondoexuq1wtf																														
DOID:12139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:145008007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84065	biolink:NamedThing			mondoexuq1wtf																														
DOID:970	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188629004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717263009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193241004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306247	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155455003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1386000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715374003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154433003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201662001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156362004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:762543009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74409009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479654	biolink:NamedThing			mondoexuq1wtf																														
DOID:10321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN176898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418143002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207063	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14651005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220658	biolink:NamedThing			mondoexuq1wtf																														
DOID:3118	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276796006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70917000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403796005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748527	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59276001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267399006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2272	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016363	biolink:NamedThing	obsolete rare hereditary hemochromatosis	Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease.	mondoexuq1wtf	iron overload disease|rare hereditary hemochromatosis			MONDO:0006507			NCIT:C84764|ICD9:275.01|Orphanet:139498|UMLS:C0282193|ICD10:E83.1|UMLS:C0018995			True		SCTID:35400008|Orphanet:220489														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0153290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419728003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194785008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37356005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609579009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931078	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019039	biolink:NamedThing	obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect		mondoexuq1wtf	rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect	MONDO:outOfScope								True		Orphanet:68334|UMLS:CN227563														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
NCIT:C5375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469521	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253054009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605463	biolink:NamedThing			mondoexuq1wtf																														
DOID:3354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937286	biolink:NamedThing			mondoexuq1wtf																														
DOID:6571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716196007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677792	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254895003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1145670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607464	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862395	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016629	biolink:NamedThing	obsolete hemorrhagic disorder due to a platelet anomaly		mondoexuq1wtf	rare coagulopathy due to a platelet anomaly|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a platelet anomaly|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia	out of scope					MONDO:0002243			True		UMLS:CN236380|Orphanet:248326														https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:D020167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279964	biolink:NamedThing			mondoexuq1wtf																														
DOID:14694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155041001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191983006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254704	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232064001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019515	biolink:NamedThing	obsolete rare dementia	Rare dementia.	mondoexuq1wtf	rare dementia			MONDO:0001627						True		UMLS:CN227644|Orphanet:89043														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1845053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615373	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056846	biolink:NamedThing			mondoexuq1wtf																														
DOID:13577	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851970	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722379001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196103008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703335004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806774	biolink:NamedThing			mondoexuq1wtf																														
DOID:624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2929	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4866	biolink:NamedThing			mondoexuq1wtf																														
DOID:2237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112116	biolink:NamedThing			mondoexuq1wtf																														
DOID:4514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3614006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124464003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021007	biolink:NamedThing	obsolete stage of disease		mondoexuq1wtf										True																				owl:Class
SNOMEDCT:715771008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187761007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609571007	biolink:NamedThing			mondoexuq1wtf																														
DOID:11776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020207	biolink:NamedThing	obsolete rare isolated myopia	Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.	mondoexuq1wtf				MONDO:0001384			OMIM:614292|UMLS:C0027092|OMIM:615431|OMIM:608908			True		UMLS:CN924920|Orphanet:98619														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0795965	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5461	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155200004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205765000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72115001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616739	biolink:NamedThing			mondoexuq1wtf																														
DOID:4175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207033	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018804	biolink:NamedThing			mondoexuq1wtf																														
DOID:4399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236533008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398530003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189734000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608029	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0545047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64309007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86049000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613533	biolink:NamedThing			mondoexuq1wtf																														
DOID:9975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186976002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751357	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051906	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717763008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27001009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35685	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98086	biolink:NamedThing			mondoexuq1wtf																														
DOID:3316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225380	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000805	biolink:NamedThing	obsolete snail allergy	A allergic disease involving a snail food product.	mondoexuq1wtf	snail food product allergic disease|allergy of snail food product	MONDO:outOfScope								True		DOID:0060530														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62994001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267528007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040584	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012236	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154550004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403970001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10300002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607785	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187787007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720818003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843140	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1444	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418634005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686404	biolink:NamedThing			mondoexuq1wtf																														
DOID:7134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34440	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255107005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015602	biolink:NamedThing	obsolete developmental delay-deafness syndrome, Hildebrand type		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0010558			True		Orphanet:163988|UMLS:CN199975																		owl:Class
ORPHA:163988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969053	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015652	biolink:NamedThing	obsolete chromosomal anomaly with epilepsy as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:166469														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
NCIT:C5235	biolink:NamedThing			mondoexuq1wtf																														
DOID:3751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3889474	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2959585	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611953	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734016004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271435007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332140	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056648	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000140	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0111151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7604	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204458000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235238	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050648	biolink:NamedThing			mondoexuq1wtf																														
DOID:4889	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187266003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196910003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114777	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198297004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48573006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN653906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275437005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198408003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314652	biolink:NamedThing			mondoexuq1wtf																														
DOID:298	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565775	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236811000119101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/560000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751606	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566104	biolink:NamedThing			mondoexuq1wtf																														
DOID:12275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254871000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445006008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537063	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432442	biolink:NamedThing			mondoexuq1wtf																														
DOID:169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193090007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67453	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186087007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402792003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020034	biolink:NamedThing	obsolete rare respiratory tract neoplasm	Any of the forms of respiratory tract neoplasm that have a rare incidence.	mondoexuq1wtf	rare respiratory neoplasm|rare respiratory tract neoplasm|rare respiratory tumor|rare respiratory cancer			MONDO:0020641			UMLS:C0154131|UMLS:C0035244			True		UMLS:CN206959|Orphanet:98060														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186750007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0814154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39294	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162531	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50450	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715574002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4760647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201263000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15938005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188143008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050655	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397010005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93954003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878486	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131503	biolink:NamedThing			mondoexuq1wtf																														
DOID:1849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723455009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27944	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193330003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48277006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715339004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254346	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53459	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070205	biolink:NamedThing			mondoexuq1wtf																														
DOID:13653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602723	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302828001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449824004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D036981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193842001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200935004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2552	biolink:NamedThing			mondoexuq1wtf																														
DOID:1529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3361	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718718009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721073008	biolink:NamedThing			mondoexuq1wtf																														
DOID:10810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217023	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205642004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703534001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237980004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764437006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23191004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239056006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511053	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94092006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338495	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044273	biolink:NamedThing	obsolete hypertension, diastolic, resistance to		mondoexuq1wtf	hypertension, diastolic, resistance to					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:608622																		owl:Class
UMLS:C1837739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201317009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48758008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430886005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721712002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN769090	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403939009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127231009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238758008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449730005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265289	biolink:NamedThing			mondoexuq1wtf																														
DOID:10314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026998	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56478004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203045001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26111005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306511	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48347002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537255	biolink:NamedThing			mondoexuq1wtf																														
DOID:1237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:235832	biolink:NamedThing			mondoexuq1wtf																														
DOID:1343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32985001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194695008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156643	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193910008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608906	biolink:NamedThing			mondoexuq1wtf																														
DOID:13811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833615	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:257277002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295197	biolink:NamedThing			mondoexuq1wtf																														
DOID:5199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403818001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34000006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78004001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73893000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50705009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111753	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810350	biolink:NamedThing			mondoexuq1wtf																														
DOID:11379	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2720286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42829009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187542005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14683004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240825006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018381	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267491008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187602007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34824	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24292006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254049009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612656	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98795	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201265007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500011	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002144	biolink:NamedThing	obsolete hyperuricemia		mondoexuq1wtf	hyperuricemia|blood urate raized|uricacidemia|obsolete hyperuricemia (disease)		obsolete hyperuricemia (disease)	HP:0002149						True		ICD9:790.6|UMLS:C0740394|MESH:D033461|EFO:0009104|DOID:1920|SCTID:35885006																		owl:Class
SNOMEDCT:35885006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254763007	biolink:NamedThing			mondoexuq1wtf																														
DOID:439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282512	biolink:NamedThing			mondoexuq1wtf																														
DOID:8338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16459000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110745	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703508009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27298	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269407005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4844	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84771	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553793	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2045	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8567	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34781	biolink:NamedThing			mondoexuq1wtf																														
DOID:9076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726079008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30102006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363411007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796031	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015217	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190567009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717917007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190239004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717261006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195037005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015845	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403938001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970298	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000798	biolink:NamedThing	obsolete mollusc allergy	A allergic disease involving a mollusc food product.	mondoexuq1wtf	mollusc food product allergic disease|allergy of mollusc food product	MONDO:outOfScope								True		DOID:0060523														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060523	biolink:NamedThing			mondoexuq1wtf																														
DOID:10590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416257001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196478007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197457003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237951008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C90599	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220210	biolink:NamedThing			mondoexuq1wtf																														
DOID:640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112641009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363426009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423590009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008480	biolink:NamedThing	obsolete odontochondrodysplasia		mondoexuq1wtf				MONDO:0031169						True																https://github.com/monarch-initiative/mondo/issues/2940				owl:Class
SNOMEDCT:367332004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202376	biolink:NamedThing			mondoexuq1wtf																														
DOID:4837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37373007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204112006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205580008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536115	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227202	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81271001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93781006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536145	biolink:NamedThing			mondoexuq1wtf																														
DOID:2120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567529	biolink:NamedThing			mondoexuq1wtf																														
DOID:5867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600643	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018308	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205551004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726709001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31912009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333037	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398318005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155404005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839883	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054662	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2297	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194048008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189948006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192396001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3607	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060142	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538064	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154343004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014804	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141265	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59898000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404071006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393569006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006712	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:133751000119102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276035	biolink:NamedThing			mondoexuq1wtf																														
DOID:9467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0746787	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128200	biolink:NamedThing			mondoexuq1wtf																														
DOID:3277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763530000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189276007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126835002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53654	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79633009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81345003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225383	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:405	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001746	biolink:NamedThing			mondoexuq1wtf																														
DOID:1134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269548006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275355	biolink:NamedThing			mondoexuq1wtf																														
DOID:3568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427167008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275242	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190071003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36836005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1378703	biolink:NamedThing			mondoexuq1wtf																														
DOID:4644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765221009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206750008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720522001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17709002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150156	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111264	biolink:NamedThing			mondoexuq1wtf																														
DOID:4118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600228	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039234	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126973004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93279	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38804009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010278	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375111	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:252004007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196901006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518324	biolink:NamedThing			mondoexuq1wtf																														
DOID:164	biolink:NamedThing			mondoexuq1wtf																														
DOID:5684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194322005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403760006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724066002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:223727	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200983001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368295	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020433	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C55815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84625002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673535	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674987	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267497007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111834003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48897006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59572000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015834	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67859002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203640	biolink:NamedThing			mondoexuq1wtf																														
DOID:7542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155679007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84751	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854170	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000799	biolink:NamedThing	obsolete crustacean allergy	A allergic disease involving a crustacean food product.	mondoexuq1wtf	allergy of crustacean food product|crustacean food product allergic disease	MONDO:outOfScope								True		DOID:0060524														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40018	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110397	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060223	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98834	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205486004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750459	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488647	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766872002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244943	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716868003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4434006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:229717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724576005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196753007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220664	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537539	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99046	biolink:NamedThing			mondoexuq1wtf																														
DOID:431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372936000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234349007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34801009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2828000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13758004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717736007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195390003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267293009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193208002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10016	biolink:NamedThing			mondoexuq1wtf																														
DOID:1176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205560007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233664005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155116005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832827	biolink:NamedThing			mondoexuq1wtf																														
DOID:4647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334269	biolink:NamedThing			mondoexuq1wtf																														
DOID:5088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716682000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157749008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3794	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367498001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606072	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111131	biolink:NamedThing			mondoexuq1wtf																														
DOID:1283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25569003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186404005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408543001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023443	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10074389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142668003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:652	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88071000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:450005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81669005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230380005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192503001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763767006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721764008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41674001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70405009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187732006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190047005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157770	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189200000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1264195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111797001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26880	biolink:NamedThing			mondoexuq1wtf																														
DOID:6939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154334	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398762	biolink:NamedThing			mondoexuq1wtf																														
DOID:14534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187638000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284979	biolink:NamedThing			mondoexuq1wtf																														
DOID:136	biolink:NamedThing			mondoexuq1wtf																														
DOID:6482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81585005	biolink:NamedThing			mondoexuq1wtf																														
DOID:13399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618222	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254644003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189821006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014064	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060736	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000776	biolink:NamedThing	obsolete metal allergy	A allergy involving a metal allergen.	mondoexuq1wtf	metal allergen allergic disease|allergy of metal allergen	MONDO:outOfScope					ICD9:995.3			True		UMLS:C0577627|DOID:0060501|SCTID:300915004														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447753	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110298	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54898003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50607	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86348002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189982000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:28	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554607	biolink:NamedThing			mondoexuq1wtf																														
DOID:4613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240136001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55388007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN158709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4351	biolink:NamedThing			mondoexuq1wtf																														
DOID:12265	biolink:NamedThing			mondoexuq1wtf																														
DOID:5334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4835	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004342	biolink:NamedThing			mondoexuq1wtf																														
DOID:11759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155537009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16862005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013036	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197807001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403910009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191233006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723448007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733044009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178651	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68267002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91978004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612165	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280231	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1442839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79391	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201189007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86094006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613269	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020234	biolink:NamedThing	obsolete craniofacial anomaly with cataract		mondoexuq1wtf										True		Orphanet:98650																		owl:Class
UMLS:C4225191	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342792	biolink:NamedThing			mondoexuq1wtf																														
DOID:11431	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611637	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84904	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536238	biolink:NamedThing			mondoexuq1wtf																														
DOID:9588	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230282000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431263	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070066	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052181	biolink:NamedThing			mondoexuq1wtf																														
DOID:12930	biolink:NamedThing			mondoexuq1wtf																														
DOID:12568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808913	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719511005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128468007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95272003	biolink:NamedThing			mondoexuq1wtf																														
DOID:133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334618	biolink:NamedThing			mondoexuq1wtf																														
DOID:8712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53974002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849113	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070267	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012640	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294023	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466934	biolink:NamedThing			mondoexuq1wtf																														
DOID:11801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723557004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019618	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55608001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40383	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204615	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7208	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0029042	biolink:NamedThing	obsolete ureteropelvic junction obstruction		mondoexuq1wtf				HP:0000074						True		DOID:0111145																		owl:Class
DOID:0111145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282908	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600143	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723827003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2063886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236071009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272750	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56727007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190034000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187217000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535456	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494491	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610442	biolink:NamedThing			mondoexuq1wtf																														
DOID:6084	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93932000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607095	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200553	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615091	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81463002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19272000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111237	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151731	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157916	biolink:NamedThing			mondoexuq1wtf																														
DOID:5821	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184255	biolink:NamedThing			mondoexuq1wtf																														
DOID:83	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538220	biolink:NamedThing			mondoexuq1wtf																														
DOID:10035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277905003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2814	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399379	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034139	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225316	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060590	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14046000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833276	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43477006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72744008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123302009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186671005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34129005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192621007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254185007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987398	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1963946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194250007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188660004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254795008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71272	biolink:NamedThing			mondoexuq1wtf																														
DOID:3254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1698581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155351	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0240803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866962	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371982006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67036	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84898	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852529	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834556	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275864	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3468114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46640001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27350	biolink:NamedThing			mondoexuq1wtf																														
DOID:1992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100932	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194005002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720749004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713609000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764860006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421668005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014852	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025294	biolink:NamedThing			mondoexuq1wtf																														
DOID:11843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3385	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372146004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401810	biolink:NamedThing			mondoexuq1wtf																														
DOID:3618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49526009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69322001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267766007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613949	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155865002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79432	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300886	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4692	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055623	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005741	biolink:NamedThing	obsolete egg allergy	Allergic reaction to eggs that is triggered by the immune system.	mondoexuq1wtf	allergy of egg|allergy to eggs|egg allergic disease	MONDO:outOfScope					SCTID:157802003|SCTID:213019003			True		COHD:442116|DOID:4377|MESH:D021181|SCTID:91930004|EFO:0007248|ICD9:V15.03|UMLS:C0559469														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
MESH:D021181	biolink:NamedThing			mondoexuq1wtf																														
DOID:4138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193166009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715776003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192760003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537116	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051714	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236682002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155764007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44423001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302243	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505652	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721231007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838258	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852282	biolink:NamedThing			mondoexuq1wtf																														
MESH:C573722	biolink:NamedThing			mondoexuq1wtf																														
DOID:3651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155976002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156926008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197570	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565098	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110610	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9297	biolink:NamedThing			mondoexuq1wtf																														
DOID:4290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196588005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013292	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473555	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338451	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019711	biolink:NamedThing	obsolete dysostosis with predominant vertebral and costal involvement		mondoexuq1wtf										True		Orphanet:93454																		owl:Class
SNOMEDCT:22265001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127216000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334807	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716022002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750610	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402824003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400047006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151230	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719166003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859877	biolink:NamedThing			mondoexuq1wtf																														
DOID:12342	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238861002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719305006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009916	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62497000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8829008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126838000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126725000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:117631000119103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0545074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204507004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1283271	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153195	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268416	biolink:NamedThing			mondoexuq1wtf																														
DOID:5273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240894003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155355	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57777000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69254008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87126009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189844009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698249005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367601000119103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40236	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98872	biolink:NamedThing			mondoexuq1wtf																														
DOID:3998	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720515009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127072000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3875011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246074004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345958	biolink:NamedThing			mondoexuq1wtf																														
DOID:9275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68981009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018719	biolink:NamedThing	obsolete obsolete rare capillary malformation with associated anomalies		mondoexuq1wtf		MONDO:outOfScope				A grouping term that is probably not used clinically.	MONDO:0016231|Orphanet:458830|UMLS:CN242066			True																https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1727				owl:Class
http://identifiers.org/omim/166210	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300068	biolink:NamedThing			mondoexuq1wtf																														
DOID:7591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155808003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34168003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190014001	biolink:NamedThing			mondoexuq1wtf																														
DOID:251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432243	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105713003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613065	biolink:NamedThing			mondoexuq1wtf																														
DOID:10112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37304002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1048	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158945	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068801	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47284001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155981006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235724004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79168	biolink:NamedThing			mondoexuq1wtf																														
DOID:1074	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001819	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019519	biolink:NamedThing	obsolete rare skin disease	Rare skin disease.	mondoexuq1wtf	rare skin disease			MONDO:0005093						True		Orphanet:89826|UMLS:CN206332														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0265915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189881008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718577005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99967	biolink:NamedThing			mondoexuq1wtf																														
DOID:368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603552	biolink:NamedThing			mondoexuq1wtf																														
DOID:272	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020036	biolink:NamedThing	obsolete rare nervous system tumor	Rare nervous system cancer.	mondoexuq1wtf	rare nervous system cancer|nervous system rare tumor|rare nervous system neoplasm			MONDO:0021248			UMLS:C0027766			True		Orphanet:98062														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98062	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0274888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479452	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304603007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1455705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510778	biolink:NamedThing			mondoexuq1wtf																														
DOID:3821	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239805001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007279	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251240	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564698	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276870001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237477	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50967008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98890	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204514002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531834	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855114	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254960002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707551007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63702009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190354007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566551	biolink:NamedThing			mondoexuq1wtf																														
DOID:5851	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111419	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84706005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209950	biolink:NamedThing			mondoexuq1wtf																														
DOID:9207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225256	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83652003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334657	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312991009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235908005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:87277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52522001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34225008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192785007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566933	biolink:NamedThing			mondoexuq1wtf																														
DOID:6505	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154752005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193925008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400128006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535475	biolink:NamedThing			mondoexuq1wtf																														
DOID:1393	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35801	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721888002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391970	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:395205004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262110	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92598002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266384001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268029009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795956	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39784	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184900	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196854005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0846967	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123308008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70041004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720458005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014071	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046728	biolink:NamedThing			mondoexuq1wtf																														
DOID:14184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52564001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45261009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361203007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187885008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238769	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31069005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187762000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197847008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017459	biolink:NamedThing	obsolete central polydactyly of toes		mondoexuq1wtf	central polydactyly of foot|mirror foot|mesoaxial polydactyly of toes					Obsolete in Orphanet	MONDO:0011348			True		ICD10:Q69.2|SCTID:253967005|Orphanet:295010																		owl:Class
SNOMEDCT:253967005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147060	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836022	biolink:NamedThing			mondoexuq1wtf																														
DOID:12129	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92065004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344432	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111017	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535293	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4330009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253879006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195880002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254361	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36365	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833683	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194804002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027095	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021433	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:36171008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82500001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155660009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50521002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748628	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27621000119100	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3169	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188676008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7111000119109	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6509	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169110	biolink:NamedThing			mondoexuq1wtf																														
DOID:5504	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702418009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40031	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715751004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186657002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28244003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201209003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204041	biolink:NamedThing			mondoexuq1wtf																														
DOID:9165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40250	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536281	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300778	biolink:NamedThing			mondoexuq1wtf																														
DOID:4464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239037001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2775	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:530838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719582007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616353	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15350006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4781	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015894	biolink:NamedThing	obsolete rare hyperthyroidism	Any of the forms of hyperthyroidism that have a rare incidence.	mondoexuq1wtf	rare hyperthyroidism			MONDO:0004425			ICD10:E05.4|ICD10:E05.1|ICD10:E05.9|ICD10:E05.5|ICD10:E05.0|ICD10:E05.8|UMLS:C0020550|ICD10:E05.3|ICD10:E05.2			True		Orphanet:181399														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1367789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748555	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111770	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722058005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128187005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:803009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717749002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42399005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325061	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403772000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279904	biolink:NamedThing			mondoexuq1wtf																														
DOID:8255	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200993008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247239	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031261	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154318005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194053003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193875009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398640008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31323000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111305	biolink:NamedThing			mondoexuq1wtf																														
DOID:17	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231679	biolink:NamedThing			mondoexuq1wtf																														
DOID:3528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:430	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278250	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84803	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020223	biolink:NamedThing	obsolete lens and zonula anomaly		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:98639														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
NCIT:C2894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613471	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150280	biolink:NamedThing			mondoexuq1wtf																														
DOID:9297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720495005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766981007	biolink:NamedThing			mondoexuq1wtf																														
DOID:7379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018303	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268060	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257844	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619130	biolink:NamedThing			mondoexuq1wtf																														
DOID:11766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93472004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189551005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35031	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2928	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698870008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721972001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155522005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54051005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95558008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396332003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277473004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254815002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200994002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232359007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017665	biolink:NamedThing	obsolete rare genetic disease with myoclonus as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN203550|Orphanet:307067														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
SNOMEDCT:126787005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9904008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600092	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189853002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154276003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152251	biolink:NamedThing			mondoexuq1wtf																														
DOID:2451	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128212001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400821	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3448	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155285	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153479	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717773005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254066006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192866001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718849008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10046851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126907002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253159001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193531003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32048006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53597009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764736001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77365006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45812003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230325003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154377009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398199007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94132005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97179	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750935	biolink:NamedThing			mondoexuq1wtf																														
DOID:12363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449420002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193029000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70831000119103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2601	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614727	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270533009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14968007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717046003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080175	biolink:NamedThing			mondoexuq1wtf																														
DOID:4693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334529	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602472	biolink:NamedThing			mondoexuq1wtf																														
DOID:6752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194719006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187057005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678034	biolink:NamedThing			mondoexuq1wtf																														
DOID:9883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1540912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248326	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014389	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98706	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700057001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268050000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702447002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6290	biolink:NamedThing			mondoexuq1wtf																														
DOID:13867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399989005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190779007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198153007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1788	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015835	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417609007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403135004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700463002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446995005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93948004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266655004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6971002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71314006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718631006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842930	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40468003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154653	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206694	biolink:NamedThing			mondoexuq1wtf																														
DOID:5259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93999006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536181	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060792	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5964004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020151	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263494	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020126	biolink:NamedThing	obsolete rare peripheral neuropathy	Rare peripheral neuropathy.	mondoexuq1wtf	rare peripheral neuropathy			MONDO:0005244			UMLS:C0031117			True		Orphanet:98496														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155878002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043677	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373639002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004382	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79118000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8535002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202370001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18241005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6997	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020097	biolink:NamedThing	obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature.	mondoexuq1wtf	autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal recessive	MONDO:outOfScope					ICD10:Q82.8			True		UMLS:CN207000|Orphanet:98357														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
UMLS:C3888011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193622008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65959000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7506	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155562009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118287003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35690	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062952	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48372	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193550003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92059004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26597004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35154004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719576009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271760	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162281	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205627	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260565	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126804008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85047	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:315306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200837006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809352	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700242002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5208	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84656	biolink:NamedThing			mondoexuq1wtf																														
DOID:5222	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255154009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2714	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518234	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867859	biolink:NamedThing			mondoexuq1wtf																														
DOID:2043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86880	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66694000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837245	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238269	biolink:NamedThing			mondoexuq1wtf																														
DOID:3230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277589003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363450006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68815009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1148551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238074007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725035001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194346003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36259009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303135	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267679005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611067	biolink:NamedThing			mondoexuq1wtf																														
DOID:13913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763406004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128116006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931473	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39852	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79283	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600803	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200320009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9009001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763748007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188518008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268351009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233607000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060646	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618662	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617895	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014693	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155774	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423424005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276264004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397734008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616500	biolink:NamedThing			mondoexuq1wtf																														
DOID:3540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99989	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168774	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715197005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274095001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110612	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58477004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324977	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205116	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310685	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26929004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398148000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306597	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266448009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85598007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:478664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332923	biolink:NamedThing			mondoexuq1wtf																														
DOID:8743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715907003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833541	biolink:NamedThing			mondoexuq1wtf																														
DOID:1777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128741006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044241	biolink:NamedThing	obsolete mydriatic response to pharmacologic agents		mondoexuq1wtf	mydriatic response to pharmacologic agents					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:159410																		owl:Class
http://identifiers.org/omim/159410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404069006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022570	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155629009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15539009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39149004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718141008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563669	biolink:NamedThing			mondoexuq1wtf																														
DOID:6492	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267553005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93802007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280331	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010942	biolink:NamedThing	obsolete eukaryotic translation elongation factor 1 alpha-1-like 14		mondoexuq1wtf	eukaryotic translation elongation factor 1 ALPHA-1-like 14|prostatic carcinoma tumor-inducing Gene 1|eukaryotic translation elongation Factor 1 Alpha-1-like type 14|EEF1A1L14						OMIM:600841			True																				owl:Class
UMLS:C1833249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229250	biolink:NamedThing			mondoexuq1wtf																														
DOID:3444	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721187005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542501	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69077002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719689005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156066005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155277002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83484	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1418498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238068007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27053	biolink:NamedThing			mondoexuq1wtf																														
DOID:14766	biolink:NamedThing			mondoexuq1wtf																														
DOID:3542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128200000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371330000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197814004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334315	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060264	biolink:NamedThing			mondoexuq1wtf																														
DOID:399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238024005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205063003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335744	biolink:NamedThing			mondoexuq1wtf																														
DOID:4640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64524002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2849	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070297	biolink:NamedThing			mondoexuq1wtf																														
DOID:12376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310673	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048780	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186570	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73975000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150546	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110990	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537723	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267425008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63634009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22024005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186298002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46775006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68362	biolink:NamedThing			mondoexuq1wtf																														
DOID:1525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98908	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616732	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8255	biolink:NamedThing			mondoexuq1wtf																														
DOID:337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203751	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853255	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003028	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563808	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044246	biolink:NamedThing	obsolete nystagmus, voluntary	Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}).	mondoexuq1wtf	NYSTAGMUS, voluntary					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:164170																		owl:Class
UMLS:C0339667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76105009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1331534	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567320	biolink:NamedThing			mondoexuq1wtf																														
DOID:14022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91930004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:530	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020473	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78960005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN068649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254180002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0865093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715217004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605373	biolink:NamedThing			mondoexuq1wtf																														
DOID:9838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:469	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050548	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090052	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110432	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715986009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0749424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206518001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080484	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94065	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111526001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346017	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275068	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010051	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563315	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126685009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280333	biolink:NamedThing			mondoexuq1wtf																														
DOID:8025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764996009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720752007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0749163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194969008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607655	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017977	biolink:NamedThing	obsolete 46,XY disorder of sex development of gynecological interest		mondoexuq1wtf	46,XY DSD of gynecological interest					These terms are not used clinically.	MONDO:0002145|MONDO:0001967			True		Orphanet:325632|UMLS:CN227238																		owl:Class
UMLS:CN227238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189192007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234622003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018784	biolink:NamedThing			mondoexuq1wtf																														
DOID:5667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832422	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567208	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554235	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26135000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115240006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34736002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373604002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123319006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0887866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856301	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266175007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1167664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190966007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308750	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564870	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715710001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229044	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017657	biolink:NamedThing	obsolete rare paroxysmal movement disorder		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN227171|Orphanet:306768														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:306768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292779	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92405007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191794003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125697	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265292	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144190	biolink:NamedThing			mondoexuq1wtf																														
DOID:322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61640006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254151006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734026006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192068001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372130007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53783003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN510468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154159	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050090	biolink:NamedThing			mondoexuq1wtf																														
DOID:7610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267471001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34883005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708127008	biolink:NamedThing			mondoexuq1wtf																														
DOID:6823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11270005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247378004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:472905007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2584778	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71404003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254939008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4760008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119058	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154349000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191315003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26979	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6587	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18021007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20290005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566662	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367503003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192825001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721838005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718749004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34873	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839129	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329813	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019684	biolink:NamedThing	obsolete rare bone disease	Rare bone disease.	mondoexuq1wtf	rare bone disease			MONDO:0005381						True		Orphanet:93419|UMLS:CN206613														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206613	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609638	biolink:NamedThing			mondoexuq1wtf																														
DOID:3198	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537658	biolink:NamedThing			mondoexuq1wtf																														
DOID:6229	biolink:NamedThing			mondoexuq1wtf																														
DOID:2234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003925	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751362	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371199008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427795000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198134002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121207	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045224	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192137002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613826	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017653	biolink:NamedThing	obsolete epilepsy and/or ataxia with myoclonus as major feature		mondoexuq1wtf										True		Orphanet:306756																		owl:Class
DOID:4005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416956002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267682000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44245003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615360	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202526	biolink:NamedThing			mondoexuq1wtf																														
DOID:8427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616559	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156388001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193140006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95198001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191310008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931315	biolink:NamedThing			mondoexuq1wtf																														
DOID:4557	biolink:NamedThing			mondoexuq1wtf																														
DOID:5547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128350005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47488001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614643	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763884007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617769	biolink:NamedThing			mondoexuq1wtf																														
DOID:11847	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720429007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12313004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197124009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103917	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204070	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616507	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206526009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855856	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204849	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7011	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538077	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85221	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050924	biolink:NamedThing			mondoexuq1wtf																														
DOID:5306	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537093	biolink:NamedThing			mondoexuq1wtf																														
DOID:3372	biolink:NamedThing			mondoexuq1wtf																														
DOID:171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511052	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65743	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270505009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154450001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151889	biolink:NamedThing			mondoexuq1wtf																														
DOID:13413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84188003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78946008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34799	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006872	biolink:NamedThing	obsolete nut allergic reaction	Allergic reaction to tree nuts that is triggered by the immune system.	mondoexuq1wtf	allergy of 022 tree nuts (tn) (ccpr)|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease|allergy to nuts|nut allergy	MONDO:outOfScope					SCTID:395654004			True		MESH:D021184|UMLS:C0577620|EFO:1001066|SCTID:91934008|DOID:4379														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
MESH:D021184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254437001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613399	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363490009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565237	biolink:NamedThing			mondoexuq1wtf																														
DOID:4552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193113006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496828	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267451005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187114003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060251	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266294	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334374	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716775009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763755009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265497	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128333008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711403001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199011002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276645004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200978	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93676009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613684	biolink:NamedThing			mondoexuq1wtf																														
DOID:13474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4272	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42530008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129589009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95210003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126855001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018241	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011195	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4689	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124178006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59394009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78236000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156456005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95435007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4229009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702575003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398040009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35780	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001072	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111523009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266296006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56550003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540192	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809483	biolink:NamedThing			mondoexuq1wtf																														
DOID:853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459348	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN231743	biolink:NamedThing			mondoexuq1wtf																														
DOID:12155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852502	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051708	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196133001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50286006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80698001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703707001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10921	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044271	biolink:NamedThing	obsolete bone mineral density quantitative trait locus 1		mondoexuq1wtf	BMND1|high bone Mass|osteoporosis, susceptibility to|bone mineral density quantitative trait locus 1					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:601884																		owl:Class
UMLS:C1277579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41797007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339273	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN562785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190295008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494187	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61373006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70548	biolink:NamedThing			mondoexuq1wtf																														
DOID:2916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193398008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428041004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155419006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057885	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193547001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333025	biolink:NamedThing			mondoexuq1wtf																														
DOID:2764	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018802	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070198	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207115	biolink:NamedThing			mondoexuq1wtf																														
DOID:3378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151377	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88887003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363471001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92085000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69361009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1273017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363495004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27330009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271556	biolink:NamedThing			mondoexuq1wtf																														
DOID:931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614837	biolink:NamedThing			mondoexuq1wtf																														
DOID:599	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716077006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930918	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154650009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75012	biolink:NamedThing			mondoexuq1wtf																														
DOID:9577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719207000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74189002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050547	biolink:NamedThing			mondoexuq1wtf																														
DOID:1664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65172003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765047006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190983003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82054006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50574007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878666	biolink:NamedThing			mondoexuq1wtf																														
DOID:14705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566085	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300263	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38280009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262692	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033117	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46212000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537469	biolink:NamedThing			mondoexuq1wtf																														
DOID:5921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3896969	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269613007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128858006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192844008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401973	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018702	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566993	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188488003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715318006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93307	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678311	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193804007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718212006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565768	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151056	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566117	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5364006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111311004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050900	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010119	biolink:NamedThing	obsolete Glanzmann's thrombasthenia		mondoexuq1wtf				MONDO:0031332						True																https://github.com/monarch-initiative/mondo/issues/2940				owl:Class
UMLS:C0151721	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019710	biolink:NamedThing	obsolete dysostosis with predominant craniofacial involvement		mondoexuq1wtf										True		Orphanet:93453																		owl:Class
ORPHA:93453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:854	biolink:NamedThing			mondoexuq1wtf																														
DOID:11476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254790003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334496	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97567	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206580	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768926005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237776	biolink:NamedThing			mondoexuq1wtf																														
DOID:5342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752073	biolink:NamedThing			mondoexuq1wtf																														
DOID:2633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240542006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970143	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1761609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157962	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600994	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333787	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128640002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195654001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717407006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255008003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610256	biolink:NamedThing			mondoexuq1wtf																														
DOID:4297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190790002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3802	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363409003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137810	biolink:NamedThing			mondoexuq1wtf																														
DOID:2457	biolink:NamedThing			mondoexuq1wtf																														
DOID:403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312104005	biolink:NamedThing			mondoexuq1wtf																														
DOID:174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026266	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125706	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565585	biolink:NamedThing			mondoexuq1wtf																														
DOID:9867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843533	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000788	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267691001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90927000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060293	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37266	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34243007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699704002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31411005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31502007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676192	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153413	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4053775	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859082	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840560	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51022005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206707	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796086	biolink:NamedThing			mondoexuq1wtf																														
DOID:4545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50570003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2405	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197123003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155201000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563032	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969443	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868677	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26780	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3801	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155048007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403836001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151442	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55912009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436271	biolink:NamedThing			mondoexuq1wtf																														
DOID:6697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189810002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309469	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334659	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7826003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110323	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307608006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10586006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014321	biolink:NamedThing			mondoexuq1wtf																														
DOID:13357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C25765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724144006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20512000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010601	biolink:NamedThing	obsolete gynecomastia, familial	An instance of gynecomastia that is caused by an inherited modification of the individual's genome.	mondoexuq1wtf	gynecomastia, familial|hereditary gynecomastia					Obsoleted in OMIM	MONDO:0010720|MONDO:0007690			True		MESH:C564416|OMIM:306500|UMLS:C1844375														https://github.com/monarch-initiative/mondo/issues/1695				owl:Class
UMLS:C1844375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699251001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389985001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862140	biolink:NamedThing			mondoexuq1wtf																														
DOID:5171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89392001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194750008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269533000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297255007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319223	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198988006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280229	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203927003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231512003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189777004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240201007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717961	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128895006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809165	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235594008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62769007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538112	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518869	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016804	biolink:NamedThing	obsolete exercise intolerance with lactic acidosis		mondoexuq1wtf										True		Orphanet:254843																		owl:Class
UMLS:C0033948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254685	biolink:NamedThing			mondoexuq1wtf																														
DOID:6119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94122003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186992007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:147016002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79078	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050646	biolink:NamedThing			mondoexuq1wtf																														
DOID:12404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722430008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253087008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015439	biolink:NamedThing			mondoexuq1wtf																														
DOID:14791	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87737001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235891006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98668	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268352002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205567005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719395001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197376000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189789002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425740005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186167008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602086	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189846006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41574007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190626005	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo/mondo-base.owl	biolink:NamedThing	Mondo Disease Ontology	A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology.	mondoexuq1wtf						Includes Ontology(OntologyID(Anonymous-39)) [Axioms: 88353 Logical Axioms: 0]|Includes Ontology(OntologyID(Anonymous-33)) [Axioms: 7236 Logical Axioms: 0]							1.2	http://obofoundry.org/ontology/mondo.html				http://creativecommons.org/licenses/by/4.0/										http://www.orpha.net/ontology/orphanet.owl|OBO:ncbitaxon.owl|OBO:chebi.owl|OBO:go.owl|OBO:ncit.owl|OBO:doid.owl|OBO:uberon.owl|https://rarediseases.info.nih.gov/|OBO:envo.owl|OBO:mf.owl|OBO:hp.owl|https://id.nlm.nih.gov/mesh/		owl:Ontology
ORPHA:90340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23109009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93885006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10545	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191393006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238441002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609055	biolink:NamedThing			mondoexuq1wtf																														
DOID:11994	biolink:NamedThing			mondoexuq1wtf																														
DOID:2949	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724349009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432036	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400075008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009116	biolink:NamedThing	obsolete lactose intolerance		mondoexuq1wtf	obsolete lactose intolerance (disease)		obsolete lactose intolerance (disease)	MONDO:0100345						True																https://github.com/monarch-initiative/mondo/issues/2949				owl:Class
DOID:0070259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1319466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36517	biolink:NamedThing			mondoexuq1wtf																														
DOID:12797	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203514008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751157	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015582	biolink:NamedThing	obsolete rare disorder related with pregnancy, childbirth and puerperium	Any of the forms of pregnancy disorder that have a rare incidence.	mondoexuq1wtf	rare pregnancy disorder			MONDO:0024575						True		Orphanet:163637|UMLS:CN226708														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715505002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201819	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204090000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24453002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182058	biolink:NamedThing			mondoexuq1wtf																														
DOID:7506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204382006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050204	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615709	biolink:NamedThing			mondoexuq1wtf																														
DOID:4008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65455002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19138001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698065002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193990009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33595009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24790002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2697933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69980003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1303073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267694009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221025	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007021	biolink:NamedThing	obsolete wheat allergic disease	Allergic reaction to wheat that is triggered by the immune system.	mondoexuq1wtf	allergy of wheat based food product|wheat allergy|wheat allergic reaction|wheat based food product allergic disease|allergic disease from wheat based food product|allergy to wheat	MONDO:outOfScope					ICD9:995.3			True		EFO:1001243|UMLS:C0949570|DOID:3660|SCTID:420174000|MESH:D021182														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
UMLS:C0949570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399889006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155432001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616469	biolink:NamedThing			mondoexuq1wtf																														
DOID:8931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335149	biolink:NamedThing			mondoexuq1wtf																														
DOID:9837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154454005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013158	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563810	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931420	biolink:NamedThing			mondoexuq1wtf																														
DOID:14289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267579001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55711009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479515	biolink:NamedThing			mondoexuq1wtf																														
DOID:14221	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023049	biolink:NamedThing			mondoexuq1wtf																														
DOID:14793	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417967008	biolink:NamedThing			mondoexuq1wtf																														
DOID:221	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111289	biolink:NamedThing			mondoexuq1wtf																														
DOID:9060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154720005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240621000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18588008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196738004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65875003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3892050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206936	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162283	biolink:NamedThing			mondoexuq1wtf																														
DOID:5382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79230	biolink:NamedThing			mondoexuq1wtf																														
DOID:8469	biolink:NamedThing			mondoexuq1wtf																														
DOID:6239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2697310	biolink:NamedThing			mondoexuq1wtf																														
DOID:7951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194784007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39849	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010921	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858664	biolink:NamedThing			mondoexuq1wtf																														
DOID:4561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27382006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:47044	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C63707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721307000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862868	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204357006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034188	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402413008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24269006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720417003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237455	biolink:NamedThing			mondoexuq1wtf																														
DOID:4280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563888	biolink:NamedThing			mondoexuq1wtf																														
DOID:12491	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567010	biolink:NamedThing			mondoexuq1wtf																														
DOID:7607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536020	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018358	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050466	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703938007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838141	biolink:NamedThing			mondoexuq1wtf																														
DOID:4282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302900006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155067	biolink:NamedThing			mondoexuq1wtf																														
DOID:8651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C147005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719429003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193012	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:189466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608935	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613731	biolink:NamedThing			mondoexuq1wtf																														
DOID:3671	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39056008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029591	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049711	biolink:NamedThing			mondoexuq1wtf																														
DOID:12016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605944	biolink:NamedThing			mondoexuq1wtf																														
DOID:1439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52179003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266630005	biolink:NamedThing			mondoexuq1wtf																														
DOID:10022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25822001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254659009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3545	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050010	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028933	biolink:NamedThing			mondoexuq1wtf																														
DOID:13482	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68295002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238111	biolink:NamedThing			mondoexuq1wtf																														
DOID:9245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89024000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75096007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1801950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240623002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729842	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676466	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30811009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0742965	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080525	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199329	biolink:NamedThing			mondoexuq1wtf																														
DOID:6865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148369	biolink:NamedThing			mondoexuq1wtf																														
DOID:1526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128459005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257550	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262653	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833296	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155613001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34876	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:969	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003547	biolink:NamedThing	obsolete histiocytic and dendritic cell cancer		mondoexuq1wtf				MONDO:0006247						True																				owl:Class
NCIT:C43251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227174	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189847002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267848009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268774006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423902002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715657008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717811007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14821001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35193	biolink:NamedThing			mondoexuq1wtf																														
DOID:8517	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724178000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200841005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266863	biolink:NamedThing			mondoexuq1wtf																														
DOID:5526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268769003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154315008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699802009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112705	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284324	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235904007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43296007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726722009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448990005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018699	biolink:NamedThing	obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy		mondoexuq1wtf										True		Orphanet:457059																		owl:Class
ORPHA:457059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518694	biolink:NamedThing			mondoexuq1wtf																														
DOID:12225	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052802	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612631	biolink:NamedThing			mondoexuq1wtf																														
DOID:7049	biolink:NamedThing			mondoexuq1wtf																														
DOID:12052	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12302002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268344	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3316	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567753	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154907002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342844	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267372009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400166009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254715009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158447	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846980	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270516002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226629	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194034008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97368	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1439329	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198558008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51500006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C93046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086774	biolink:NamedThing			mondoexuq1wtf																														
DOID:4360	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615127	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175699	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178025	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109370001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156619005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234443007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3147083	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716180009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65110003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:916	biolink:NamedThing			mondoexuq1wtf																														
DOID:2597	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128670007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191961007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518783	biolink:NamedThing			mondoexuq1wtf																														
DOID:7511	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77506005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565331	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010035	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617364	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564815	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488239	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399992009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936833	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188210000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0701822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56528004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604498	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23412002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0522627	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2946003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70179006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681911	biolink:NamedThing			mondoexuq1wtf																														
DOID:1082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95749	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012243	biolink:NamedThing			mondoexuq1wtf																														
DOID:2800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228399	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201328	biolink:NamedThing			mondoexuq1wtf																														
DOID:674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93829002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363732003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264081	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017122	biolink:NamedThing	obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN202475|Orphanet:269573														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
ORPHA:269573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084840	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020616	biolink:NamedThing	obsolete blood group, mn		mondoexuq1wtf	BLOOD GROUP, MN|Mn Blood Group|Mns Blood Group Systed|MN|Blood Group, Mnss System|Mnss Blood Group System									True		OMIM:111300																		owl:Class
UMLS:C1367455	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137908	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14720007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7048	biolink:NamedThing			mondoexuq1wtf																														
DOID:3583	biolink:NamedThing			mondoexuq1wtf																														
DOID:7333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27742002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274211000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194244002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565957	biolink:NamedThing			mondoexuq1wtf																														
DOID:13774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201165	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52677002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154369005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26684	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72294005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27103	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110211	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614846	biolink:NamedThing			mondoexuq1wtf																														
DOID:4281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63175003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272827	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413445002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605259	biolink:NamedThing			mondoexuq1wtf																														
DOID:7502	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410502007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84724	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449291	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514905	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111318005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6384	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417192005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190319000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3022	biolink:NamedThing			mondoexuq1wtf																														
DOID:4772	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721308005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849192	biolink:NamedThing			mondoexuq1wtf																														
DOID:3258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036464	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123151001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93929003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59451000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:915	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763314009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134345002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017654	biolink:NamedThing	obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature		mondoexuq1wtf										True		Orphanet:306759														https://github.com/monarch-initiative/mondo/projects/6				owl:Class
UMLS:C3280275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2878	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715951007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230782004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751308	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863692	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611702	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228990	biolink:NamedThing			mondoexuq1wtf																														
DOID:14450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3351	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605750	biolink:NamedThing			mondoexuq1wtf																														
DOID:5308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702359002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56763007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97548	biolink:NamedThing			mondoexuq1wtf																														
DOID:11821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15699003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266651008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101400	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035718	biolink:NamedThing			mondoexuq1wtf																														
DOID:4930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194736003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191756003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187278004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26851006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155024003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303852004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857341	biolink:NamedThing			mondoexuq1wtf																														
DOID:2832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111209006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016055	biolink:NamedThing	obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200739|Orphanet:199639														https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:199639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65390006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49965002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153112	biolink:NamedThing			mondoexuq1wtf																														
DOID:13050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536919	biolink:NamedThing			mondoexuq1wtf																														
DOID:14041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416878008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5414	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019749	biolink:NamedThing	obsolete rare renal tumor	Any of the forms of kidney neoplasm that have a rare incidence.	mondoexuq1wtf	rare kidney neoplasm			MONDO:0021163			UMLS:C0022665			True		Orphanet:93619														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:194011004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128380	biolink:NamedThing			mondoexuq1wtf																														
DOID:12663	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564684	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4013947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186518000	biolink:NamedThing			mondoexuq1wtf																														
DOID:11578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281066	biolink:NamedThing			mondoexuq1wtf																														
DOID:182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275083	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196004000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123946008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392525	biolink:NamedThing			mondoexuq1wtf																														
DOID:14081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748552	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155102	biolink:NamedThing			mondoexuq1wtf																														
DOID:5132	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859807	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415115007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048640	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020608	biolink:NamedThing	obsolete blood group--ahonen		mondoexuq1wtf	AN|BLOOD GROUP--AHONEN					Obsoleted as it represents a trait				True		OMIM:110350																		owl:Class
http://identifiers.org/omim/110350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188732008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6215006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616531	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448670003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703537008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66207005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137932	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246989006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85028	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94114005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014877	biolink:NamedThing			mondoexuq1wtf																														
DOID:14529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038463	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314429009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193417000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614623	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:451602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309595004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563516	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838502	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192050	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197850006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537486	biolink:NamedThing			mondoexuq1wtf																														
DOID:2025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85898001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314027003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887668	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619025	biolink:NamedThing			mondoexuq1wtf																														
DOID:5083	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111491	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042847	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242770	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018723	biolink:NamedThing	obsolete rare vascular malformation of major vessels		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:458844|UMLS:CN242093														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN242093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723502001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254626006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0495465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190919008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335328	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40291001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75019	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154980002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131689	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2853959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750283	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015621	biolink:NamedThing	obsolete rare abdominal surgical disease		mondoexuq1wtf				MONDO:0000001						True		Orphanet:165711|UMLS:CN199996														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN199996	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023472	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537652	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019613	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226907	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840227	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020184	biolink:NamedThing	obsolete rare eyebrow/eyelashes anomaly		mondoexuq1wtf						Editor note: does not align with anatomy	HP:0000499|HP:0000534			True		Orphanet:98594|UMLS:CN227808														https://github.com/monarch-initiative/mondo/issues/1501|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C138179	biolink:NamedThing			mondoexuq1wtf																														
DOID:6548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0702139	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415125002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464359	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128079007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205132000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239928004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71785001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10720004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310739	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611597	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618859	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295189	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565608	biolink:NamedThing			mondoexuq1wtf																														
DOID:2562	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060366	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264882	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254784002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54266002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855675	biolink:NamedThing			mondoexuq1wtf																														
DOID:303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190797004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154345006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858133	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3288	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26687	biolink:NamedThing			mondoexuq1wtf																														
DOID:5539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35349000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193378003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300865	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018043	biolink:NamedThing			mondoexuq1wtf																														
DOID:9388	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476084	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7525	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43876007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715465001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186954006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155228005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124249000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597887	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538331	biolink:NamedThing			mondoexuq1wtf																														
DOID:1852	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3828464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969046	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1571	biolink:NamedThing			mondoexuq1wtf																														
DOID:5893	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178566	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2315777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40846004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0078911	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254661000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101222	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192516001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154452009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191703000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198382004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9356	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050952	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3884338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84475	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8404	biolink:NamedThing			mondoexuq1wtf																														
DOID:4007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128844009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80887004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277555	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1146	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233609002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22725004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198129001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367113004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565232	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2367985	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020428	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96149	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180860	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044216	biolink:NamedThing	obsolete artichoke, modification of taste by		mondoexuq1wtf	artichoke, modification of taste by					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:108320																		owl:Class
http://identifiers.org/omim/108320	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26805	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005587	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82431	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266511003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193356005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21070001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472347	biolink:NamedThing			mondoexuq1wtf																														
DOID:9240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187600004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111667	biolink:NamedThing			mondoexuq1wtf																														
DOID:7574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165556002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231222	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2941	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14304000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312785002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202187	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674798	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015578	biolink:NamedThing	obsolete rare mycosis	Rare fungal infectious disease.	mondoexuq1wtf	rare fungal infectious disease			MONDO:0002041			UMLS:C0026946			True		Orphanet:163591														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1300205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303011007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763455008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838253	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154801000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75373	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:321717001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231976001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605362	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43814000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332273	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080589	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709416009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050260	biolink:NamedThing			mondoexuq1wtf																														
DOID:12223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336544	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154073	biolink:NamedThing			mondoexuq1wtf																														
DOID:4845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0455990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402041	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567714	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396712002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118934005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193883003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4034	biolink:NamedThing			mondoexuq1wtf																														
DOID:3317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63941000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363373004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277580004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5375	biolink:NamedThing			mondoexuq1wtf																														
DOID:4115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231829006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194172000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2859005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303063000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432357	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0454542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35604006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266516008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95718	biolink:NamedThing			mondoexuq1wtf																														
DOID:14140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:208061000119101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1142432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155853001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201506	biolink:NamedThing			mondoexuq1wtf																														
DOID:10286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79550	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404064001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226979	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110472	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536799	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1288279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839125	biolink:NamedThing			mondoexuq1wtf																														
DOID:5136	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618660	biolink:NamedThing			mondoexuq1wtf																														
DOID:5409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248104007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8702	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:729	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154850	biolink:NamedThing			mondoexuq1wtf																														
DOID:9053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN807950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5724005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154274000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1875	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363379000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86012006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015456	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155921009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086768	biolink:NamedThing			mondoexuq1wtf																														
DOID:9801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015186	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604717	biolink:NamedThing			mondoexuq1wtf																														
DOID:9655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9234	biolink:NamedThing			mondoexuq1wtf																														
DOID:2065	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567356	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931615	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363101005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4538784	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155681009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024439	biolink:NamedThing			mondoexuq1wtf																														
DOID:11507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271545007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C81767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3466	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969063	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1283620	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053241	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266026	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35686	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201392	biolink:NamedThing			mondoexuq1wtf																														
DOID:5815	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#ABBREVIATION	biolink:NamedThing	abbreviation		mondoexuq1wtf																														owl:AnnotationProperty
MESH:D058627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154884005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70764005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187108005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022566	biolink:NamedThing	obsolete BEST1 retinopathy		mondoexuq1wtf				MONDO:0007931						True																https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy				owl:Class
SNOMEDCT:204609007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187653008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56558005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388980004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609622	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3282904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69195002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403999006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253084001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267592003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263520	biolink:NamedThing			mondoexuq1wtf																														
DOID:11450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186978001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3298001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080291	biolink:NamedThing			mondoexuq1wtf																														
DOID:14192	biolink:NamedThing			mondoexuq1wtf																														
DOID:6838	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10877007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126734005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17741008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254153009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92040001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44376007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126733004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194403000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272800	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053869	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271793004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187472001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708771	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010997	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150889	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931646	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536232	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855663	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276241	biolink:NamedThing			mondoexuq1wtf																														
DOID:559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856898	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014390	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715672007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189689007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4551964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271700006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197136003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677096	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018278	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018386	biolink:NamedThing	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder		mondoexuq1wtf	rare male infertility due to hypothalamic-pituitary-testicular axis disorder|rare male infertility due to gonadotropic axis disorder	MONDO:outOfScope					ICD10:N46			True		UMLS:CN227334|Orphanet:399572														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN227334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191390009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6347	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309590	biolink:NamedThing			mondoexuq1wtf																														
DOID:10575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96830	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013716	biolink:NamedThing			mondoexuq1wtf																														
DOID:1400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302511	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029502	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35091000119101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69316005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717767009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260350	biolink:NamedThing			mondoexuq1wtf																														
DOID:3322	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50942	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0679362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192300	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399490008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609655	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060486	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4701	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270959002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271607001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553947	biolink:NamedThing			mondoexuq1wtf																														
DOID:9383	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126847008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL480935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194214000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191446003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73391008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5502	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26858	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047883	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060068	biolink:NamedThing			mondoexuq1wtf																														
DOID:2392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81577001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193027003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134307003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193466003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79643	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277575008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020529	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721759009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112091009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535472	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000507	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C25416	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78769001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155043003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845243	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60703000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540411	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35843007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205794007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110083	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45744005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720499004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614863	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050169	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018406	biolink:NamedThing	obsolete rare male infertility due to adrenal disorder of genetic origin		mondoexuq1wtf		MONDO:outOfScope					ICD10:N46			True		UMLS:CN227351|Orphanet:399994														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:93554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205618003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265372	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050621	biolink:NamedThing			mondoexuq1wtf																														
DOID:11638	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188532005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152276	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007464	biolink:NamedThing	obsolete isolated distichiasis	Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.	mondoexuq1wtf	distichiasis|eyelashes, two rows of						HP:0009743			True		ICD10:Q10.3|SCTID:95339000|OMIM:126300|ICD9:743.63|Orphanet:99177														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
UMLS:C1860822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359987004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271450003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15802004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155388006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN924907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677772	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267311008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3698507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48460009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238924007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237982007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715748006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698849002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230373008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403604006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1969	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155235002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56096001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613604	biolink:NamedThing			mondoexuq1wtf																														
DOID:3314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217400	biolink:NamedThing			mondoexuq1wtf																														
DOID:2060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012556	biolink:NamedThing			mondoexuq1wtf																														
DOID:3341	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018219	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1333074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38481006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399343007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93738008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566622	biolink:NamedThing			mondoexuq1wtf																														
DOID:6054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70370001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195474004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614450	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112679004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859252	biolink:NamedThing			mondoexuq1wtf																														
DOID:4252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536678	biolink:NamedThing			mondoexuq1wtf																														
DOID:11092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5029	biolink:NamedThing			mondoexuq1wtf																														
DOID:14701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363814	biolink:NamedThing			mondoexuq1wtf																														
DOID:961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155187009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711749	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948632	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110859	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564383	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198486002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029607	biolink:NamedThing			mondoexuq1wtf																														
DOID:2649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430042004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860404	biolink:NamedThing			mondoexuq1wtf																														
DOID:10697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55852007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155380004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015876	biolink:NamedThing	obsolete rare vulvovaginal tumor		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:180312|UMLS:CN200482														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C4064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006951	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16090008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198570007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:229720	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014060	biolink:NamedThing			mondoexuq1wtf																														
DOID:3340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849398	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:40923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231857004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92060009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715576000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201494002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155365	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387922007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193040008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606177	biolink:NamedThing			mondoexuq1wtf																														
DOID:10607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126667002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337036	biolink:NamedThing			mondoexuq1wtf																														
DOID:4266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020717	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207036003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415764005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616263	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157667008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39429002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766706007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608622	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154865007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5233	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9091006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1540	biolink:NamedThing			mondoexuq1wtf																														
DOID:9643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22071004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6778	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79179	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37629004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111584000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418130002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126805009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724175002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154691006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8211008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334542	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399983	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90955001	biolink:NamedThing			mondoexuq1wtf																														
DOID:849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616939	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537909	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280729	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225420	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616789	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47704002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123052006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C140268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201996	biolink:NamedThing			mondoexuq1wtf																														
DOID:593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55941000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24777009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300385	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255104003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16958000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187681002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85020001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715215007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6565	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227982	biolink:NamedThing			mondoexuq1wtf																														
DOID:8689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453521	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050634	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26445008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35262004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237959005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66855003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276432	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018133	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141077	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5668	biolink:NamedThing			mondoexuq1wtf																														
DOID:5292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346041	biolink:NamedThing			mondoexuq1wtf																														
DOID:8457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333470	biolink:NamedThing			mondoexuq1wtf																														
DOID:4871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C162472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193162006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268108002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199659	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565777	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206597007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716334004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402355000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266212009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60485005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79102	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110558	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001253	biolink:NamedThing	obsolete solar retinopathy		mondoexuq1wtf	solar retinitis									True		UMLS:C0152131|ICD10:H31.02|ICD9:363.31|SCTID:1135000|DOID:11282																		owl:Class
SNOMEDCT:1135000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/418965	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193095	biolink:NamedThing			mondoexuq1wtf																														
DOID:14482	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270850	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715799004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79212	biolink:NamedThing			mondoexuq1wtf																														
DOID:374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707250009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016057	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191215000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266324004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72409005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66139007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269972	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027533	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0012148	biolink:NamedThing	obsolete drug metabolism, poor, CYP2D6-related		mondoexuq1wtf	drug metabolism, ultrarapid, CYP2D6-related|nortriptyline, poor metabolism of|debrisoquine, ultrarapid metabolism of|debrisoquine, poor metabolism of|codeine, ultrarapid metabolism of|sparteine, poor metabolism of|drug metabolism, poor, CYP2D6-related									True		EFO:0009161|MESH:C563835|UMLS:C1837154|OMIM:608902																		owl:Class
UMLS:C1837157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308448	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251250	biolink:NamedThing			mondoexuq1wtf																														
DOID:10293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338462	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300406	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122804	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1280764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:167635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63103006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3365	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205828009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200391	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123322008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719304005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722292000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726338000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765191009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0243010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846896	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155046006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616780	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268106003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193539001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4671	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044230	biolink:NamedThing	obsolete epiblepharon of upper 51d		mondoexuq1wtf	epiblepharon of upper lid					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:131460																		owl:Class
http://identifiers.org/omim/131460	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535419	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017206	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479566	biolink:NamedThing			mondoexuq1wtf																														
DOID:350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039753	biolink:NamedThing			mondoexuq1wtf																														
DOID:3959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1405854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194566008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192509002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266485001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363479004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34748004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96406	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005535	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086651	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42432003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12381000132107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0867389	biolink:NamedThing			mondoexuq1wtf																														
DOID:5307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719300001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77872002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110731	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001988	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125383	biolink:NamedThing			mondoexuq1wtf																														
DOID:9341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/208928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260409	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82373004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369955	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53165003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155099000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186186000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444604002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014076	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013915	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363367000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409498004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139477	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616589	biolink:NamedThing			mondoexuq1wtf																														
DOID:9719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1325	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867858	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060763	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389263004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3443	biolink:NamedThing			mondoexuq1wtf																														
DOID:3981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80432009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719266007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72913007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194269002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49324006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711154007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188638002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190311002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204121007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4525	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191384005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102993	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197614002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614756	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134610	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32868004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48788004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253031000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C138171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98372	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128605003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156916001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302215000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C140267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538170	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156384004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98844	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156356009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92296004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030804	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709417000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4440	biolink:NamedThing			mondoexuq1wtf																														
DOID:5232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205077	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719049003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404689008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12825006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254829001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715800000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765747004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844376	biolink:NamedThing			mondoexuq1wtf																														
DOID:8997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149124	biolink:NamedThing			mondoexuq1wtf																														
DOID:8923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1536451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2746067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425500002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795878	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233857005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52647008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254127001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200941006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239084001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154157	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50189006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14100003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84738	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2267227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400131007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766711009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254215005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197842002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84785	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93170002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312937006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39851	biolink:NamedThing			mondoexuq1wtf																														
DOID:6460	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109558001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156032001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124716008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858108	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61772003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13583002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763623001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1258104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2565	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35728003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32893002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21957007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063402	biolink:NamedThing			mondoexuq1wtf																														
DOID:5936	biolink:NamedThing			mondoexuq1wtf																														
DOID:7048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600318	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:336	biolink:NamedThing			mondoexuq1wtf																														
DOID:5583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64383006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8561	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020136	biolink:NamedThing	obsolete neurodegenerative disease with dementia		mondoexuq1wtf							MONDO:0005559			True		UMLS:CN207020|Orphanet:98534														https://github.com/monarch-initiative/mondo/issues/1498				owl:Class
ORPHA:324321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156329007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194038006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262638	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363419009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:530983	biolink:NamedThing			mondoexuq1wtf																														
DOID:1770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27206009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234638009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76069003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3672	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277796003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4076194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155260002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721008000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255229	biolink:NamedThing			mondoexuq1wtf																														
DOID:2490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448147005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190185006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187686007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44906001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404164003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363518003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253160006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122788	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206907	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221033	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21148002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178389	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2599	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309549	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733520002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192401002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615465	biolink:NamedThing			mondoexuq1wtf																														
DOID:12733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62305002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1081	biolink:NamedThing			mondoexuq1wtf																														
DOID:12163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564854	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110895	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34480	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853298	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41114007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763597000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1532	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2348037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0489967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226190	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2929001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054064	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75968004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399730005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188228003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156317003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47641009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280146	biolink:NamedThing			mondoexuq1wtf																														
DOID:1064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037769	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020486	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:139466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154997008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19750001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866777	biolink:NamedThing			mondoexuq1wtf																														
DOID:6494	biolink:NamedThing			mondoexuq1wtf																														
DOID:11503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877208	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060430	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8352002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000747	biolink:NamedThing	obsolete umbilical hernia	A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.	mondoexuq1wtf						Represents finding.	HP:0001537			True		HP:0001537|DOID:0060321|UMLS:C0019322|ICD9:756.72|COHD:4245842|MESH:D006554|ICD9:553.1|SCTID:396347007|NCIT:C118375|ICD10:Q79.2														https://github.com/monarch-initiative/mondo/issues/1777				owl:Class
UMLS:C2931511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:333633007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267532001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98259	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715982006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393770	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155416004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47014000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266283005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238722	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723500009	biolink:NamedThing			mondoexuq1wtf																														
DOID:10602	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202647001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796280	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015931	biolink:NamedThing	obsolete rare urogenital tumor		mondoexuq1wtf				MONDO:0005070						True		UMLS:CN200523|Orphanet:182114														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN200523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202577	biolink:NamedThing			mondoexuq1wtf																														
DOID:404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196362006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN166718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41013004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68890003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142811000119104	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110926	biolink:NamedThing			mondoexuq1wtf																														
DOID:2744	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79403	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34533	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42338000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608078	biolink:NamedThing			mondoexuq1wtf																														
DOID:6613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279948	biolink:NamedThing			mondoexuq1wtf																														
DOID:646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155405006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C136486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371628009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619056	biolink:NamedThing			mondoexuq1wtf																														
DOID:6003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2965006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45116002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/575892	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61663001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125230	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242146	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278560	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154664009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861714	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9953008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226893	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716200002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:817	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015138	biolink:NamedThing	obsolete rare genetic primary immunodeficiency		mondoexuq1wtf	primary immunodeficiency			MONDO:0003778			MedDRA:10064859			True		SCTID:58606001|UMLS:C0398686|Orphanet:101997														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:101997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391816	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153382	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310468	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394727000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203531	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111598	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479088	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40354009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016410	biolink:NamedThing			mondoexuq1wtf																														
DOID:5538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254767008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93831006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1366370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615838	biolink:NamedThing			mondoexuq1wtf																														
MESH:D036841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403977003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35558	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398726004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:592574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60730005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536461	biolink:NamedThing			mondoexuq1wtf																														
DOID:14233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763370008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334825	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009531	biolink:NamedThing	obsolete lip prints		mondoexuq1wtf	lip prints									True		OMIM:247150																		owl:Class
http://identifiers.org/omim/247150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154599000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563517	biolink:NamedThing			mondoexuq1wtf																														
DOID:7843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90114	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566112	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764523004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43363007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109475005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187832001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79368	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254108007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84467	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018799	biolink:NamedThing	obsolete rare hypercholesterolemia	Rare hypercholesterolemia.	mondoexuq1wtf	rare hypercholesterolemia			MONDO:0000001						True		Orphanet:477811|UMLS:CN776861														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:477811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11806006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155308009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201015007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:144593007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111522004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306663	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1455728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717771007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267504005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642325	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015982	biolink:NamedThing	obsolete rare genetic intellectual disability	Rare genetic intellectual disability.	mondoexuq1wtf	rare genetic intellectual disability			MONDO:0001071						True		Orphanet:183757|UMLS:CN226821														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:D054060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853734	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564291	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115210	biolink:NamedThing			mondoexuq1wtf																														
DOID:3860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52616002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187009004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840219	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066261	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538018	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110634	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73103007	biolink:NamedThing			mondoexuq1wtf																														
DOID:647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854478	biolink:NamedThing			mondoexuq1wtf																														
DOID:3774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266358007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66987001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:250915007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716335003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275336002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1331544	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016779	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268987	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009018	biolink:NamedThing			mondoexuq1wtf																														
DOID:3965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332579	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438216	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281170005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128755003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN037252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111898002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55802003	biolink:NamedThing			mondoexuq1wtf																														
DOID:8020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109994006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612933	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001477	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003930	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397683000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020225	biolink:NamedThing			mondoexuq1wtf																														
DOID:10319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199244	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050138	biolink:NamedThing			mondoexuq1wtf																														
DOID:14040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155480003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332270	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607678	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42343007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189591008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42215000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016253	biolink:NamedThing	obsolete rare cancer of corpus uteri		mondoexuq1wtf	rare malignant tumor of corpus uteri			MONDO:0004992			UMLS:C0153574			True		Orphanet:213569														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:93640008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720940008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36497	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868679	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195029002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835159	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111637	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269471005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128938009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195931008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142917003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3407	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563585	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38177000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94359	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11957006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82385007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037766	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126851005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186498004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3352	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038914	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565674	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392559009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204967	biolink:NamedThing			mondoexuq1wtf																														
DOID:3767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514921	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702772003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751663	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476254	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197834003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN282826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186821005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239121009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232075002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44653001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2636	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128397	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859093	biolink:NamedThing			mondoexuq1wtf																														
DOID:10742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:714253009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197668007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334599	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99898	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386766007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191470004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604257	biolink:NamedThing			mondoexuq1wtf																														
DOID:11729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0575518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852453	biolink:NamedThing			mondoexuq1wtf																														
DOID:11134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428174001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615631	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536962	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4628	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168566	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553887	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36696005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267752002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2974016	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862204	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1826553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7492	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115430	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020622	biolink:NamedThing	obsolete blood group--stoltzfus system		mondoexuq1wtf	BLOOD GROUP--STOLTZFUS SYSTEM|Sf									True		OMIM:111800																		owl:Class
UMLS:C1862193	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565747	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000785	biolink:NamedThing	obsolete peach allergy	A allergy involving a Prunus persica.	mondoexuq1wtf	Prunus persica allergic disease|Prunus persica caused allergic disease|Prunus persica fruit allergy|allergy of Prunus persica	MONDO:outOfScope								True		DOID:0060510														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718774001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3705	biolink:NamedThing			mondoexuq1wtf																														
DOID:3677	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193543002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17342003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155512004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19824006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1442927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77478005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004678	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020758	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:90979004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080576	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6970	biolink:NamedThing			mondoexuq1wtf																														
DOID:14174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187151009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54102005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466722	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0525045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/502500	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537232	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335749	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715430001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274085008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931527	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92246000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121572	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254877001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187474000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9325	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564544	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852294	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763888005	biolink:NamedThing			mondoexuq1wtf																														
DOID:12929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN469330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194363004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128613002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567146	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194881008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031046	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129000002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0812378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017605	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76345009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722213009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699310000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309245001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402525008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203757	biolink:NamedThing			mondoexuq1wtf																														
DOID:10939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616719	biolink:NamedThing			mondoexuq1wtf																														
DOID:4299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0231311	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300815	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839577	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020268	biolink:NamedThing	obsolete ichthyosis associated with ocular features		mondoexuq1wtf										True		Orphanet:98698																		owl:Class
ORPHA:98698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27601005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013537	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268012006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101956	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195292009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98945	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056989	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266034	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041318	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:222712005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857040	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191308006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237923004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372063002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126731002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011794	biolink:NamedThing	obsolete Dravet syndrome	Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.	mondoexuq1wtf	severe myoclonus epilepsy of infancy|epileptic encephalopathy, early infantile, 6|SMEI|epileptic encephalopathy, early infantile, type 6|DS|EIEE6|severe myoclonic epilepsy in infancy|severe myoclonic epilepsy of infancy			MONDO:0100135		This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745				True		ICD10:G40.4|Orphanet:33069																		owl:Class
ORPHA:33069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254222002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203653	biolink:NamedThing			mondoexuq1wtf																														
DOID:3204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201241009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862178	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34805	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6641007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876179	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020141	biolink:NamedThing	obsolete infectious disease with dementia		mondoexuq1wtf						Dementia should be a feature, not a superclass.	MONDO:0005550			True		UMLS:CN207022|Orphanet:98542														https://github.com/monarch-initiative/mondo/issues/1954				owl:Class
http://identifiers.org/omim/142945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237617006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239918008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267556002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154579006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000357	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84897	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80651009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567461	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200975	biolink:NamedThing			mondoexuq1wtf																														
DOID:1382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399020009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304504	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189151003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867060	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202682000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206991001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27599	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538514	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015078	biolink:NamedThing	obsolete gastroenteropancreatic neuroendocrine neoplasm		mondoexuq1wtf				MONDO:0024503						True																				owl:Class
DOID:6788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417093003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90154	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363372009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30023002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137754	biolink:NamedThing			mondoexuq1wtf																														
DOID:5537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931795	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300476	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1531647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428281000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215050	biolink:NamedThing			mondoexuq1wtf																														
DOID:53	biolink:NamedThing			mondoexuq1wtf																														
DOID:14265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110804	biolink:NamedThing			mondoexuq1wtf																														
DOID:6994	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268250	biolink:NamedThing			mondoexuq1wtf																														
DOID:2441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62681000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072330	biolink:NamedThing			mondoexuq1wtf																														
DOID:5877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269644003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34566007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294971	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537906	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154648001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52220008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13172003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019100	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37039006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126490003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018400	biolink:NamedThing	obsolete rare female infertility due to an adrenal disorder		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN227346|Orphanet:399849														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C4304579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN737161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:243462001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676042	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188035000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054897	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015673	biolink:NamedThing	obsolete rare cardiac tumor	Any of the forms of heart neoplasm that have a rare incidence.	mondoexuq1wtf	rare heart neoplasm			MONDO:0021209			UMLS:C0018809			True		Orphanet:168194														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1862632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254849005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN570507	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080265	biolink:NamedThing			mondoexuq1wtf																														
DOID:8519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616486	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C105595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838539	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605982	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061252	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270529002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239892009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116366	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193887002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55776008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189826001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236706006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612785	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231053	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111611	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764998005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537683	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267484005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614381	biolink:NamedThing			mondoexuq1wtf																														
DOID:13492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009398	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47719001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717259002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857231	biolink:NamedThing			mondoexuq1wtf																														
DOID:1800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834692	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022797	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73765005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917799	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55735004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186180006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28861008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399187006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156837008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45582004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67155006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838259	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606688	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204627005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27598	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536871	biolink:NamedThing			mondoexuq1wtf																														
DOID:4067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764959000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520097	biolink:NamedThing			mondoexuq1wtf																														
DOID:2790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92567	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95677002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063396	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003113	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312918002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154542008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617951	biolink:NamedThing			mondoexuq1wtf																														
DOID:13514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238107002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733093004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346407	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9236007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080483	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090107	biolink:NamedThing			mondoexuq1wtf																														
DOID:574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415297005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618528	biolink:NamedThing			mondoexuq1wtf																														
DOID:1271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93717002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275259005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155871008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308148004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721075001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860823	biolink:NamedThing			mondoexuq1wtf																														
DOID:8442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397868007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79468000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868660	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020610	biolink:NamedThing	obsolete blood group, diego system		mondoexuq1wtf	BLOOD GROUP, DIEGO SYSTEM|Diego Blood Group System|DI									True		OMIM:110500																		owl:Class
UMLS:C1292286	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876182	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1451	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193237003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84064	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201815006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95279007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604772	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271525004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363377003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90842001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369837	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294988	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565309	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6174	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373139003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35304003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37518008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718222000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64235006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335685	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79596	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233621003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52165006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070149	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535608	biolink:NamedThing			mondoexuq1wtf																														
DOID:4468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99961	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234582006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809954	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720633009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26416006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2018774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34951	biolink:NamedThing			mondoexuq1wtf																														
DOID:12257	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017496	biolink:NamedThing			mondoexuq1wtf																														
DOID:14756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003810	biolink:NamedThing			mondoexuq1wtf																														
DOID:4664	biolink:NamedThing			mondoexuq1wtf																														
DOID:7221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192171006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2581	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931205	biolink:NamedThing			mondoexuq1wtf																														
DOID:1557	biolink:NamedThing			mondoexuq1wtf																														
DOID:10024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610321	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615632	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254920	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189505009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230426003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414497	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363463000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44551007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206181	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254709009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281784	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26849	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154521006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237584	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27226	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044233	biolink:NamedThing	obsolete hair whorl		mondoexuq1wtf	hair whorl|Cowlick|Double hair whorl					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:139400																		owl:Class
UMLS:C1185616	biolink:NamedThing			mondoexuq1wtf																														
DOID:6039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413446001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195816003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12393003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4975	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618497	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN371052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537975	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720956003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18624000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126956001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193109004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72905006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61367005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154655004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18369000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93942003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126978008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3376	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155264006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931833	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230292008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090128	biolink:NamedThing			mondoexuq1wtf																														
DOID:2772	biolink:NamedThing			mondoexuq1wtf																														
DOID:8081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210576	biolink:NamedThing			mondoexuq1wtf																														
DOID:14243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34643004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026946	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011349	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26908	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8186	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605543	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110069	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188188009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71517	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112214	biolink:NamedThing			mondoexuq1wtf																														
DOID:3876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255080008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71908006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187860004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:718	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6492006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211266	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269602009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238031009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195972005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14921002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202791	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205819008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479235	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197358	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855470	biolink:NamedThing			mondoexuq1wtf																														
DOID:3500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14302001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239112	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014867	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190638001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109979007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033898	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273966	biolink:NamedThing			mondoexuq1wtf																														
DOID:14118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80093006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269468002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618106	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506052	biolink:NamedThing			mondoexuq1wtf																														
DOID:7878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580202	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403942003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280252	biolink:NamedThing			mondoexuq1wtf																														
DOID:7046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207122	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268766	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275809	biolink:NamedThing			mondoexuq1wtf																														
DOID:8696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204606000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936907	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619064	biolink:NamedThing			mondoexuq1wtf																														
DOID:5153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269432007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131076	biolink:NamedThing			mondoexuq1wtf																														
DOID:2388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834235	biolink:NamedThing			mondoexuq1wtf																														
DOID:3181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041971	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84615	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044249	biolink:NamedThing	obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1		mondoexuq1wtf	alkaline phosphatase, elevated serum|hyperphosphatasemia, benign familial|alkaline phosphatase, plasma level OF, quantitative trait locus 1|Alpqtl1					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:171720																		owl:Class
http://identifiers.org/omim/171720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1414	biolink:NamedThing			mondoexuq1wtf																														
DOID:8544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58561002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26538006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0087012	biolink:NamedThing			mondoexuq1wtf																														
DOID:1279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191754000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707466008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023343	biolink:NamedThing			mondoexuq1wtf																														
DOID:4091	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73391000119102	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93736007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722059002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719986000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748896	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190991007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613882	biolink:NamedThing			mondoexuq1wtf																														
DOID:7105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602071	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86142006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33548005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3266027	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616214	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226150	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2215	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266539	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722117000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229733002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017612	biolink:NamedThing			mondoexuq1wtf																														
DOID:5608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156180	biolink:NamedThing			mondoexuq1wtf																														
DOID:5310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44057004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126882009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79619009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121981	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155785007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88157006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333155	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020000	biolink:NamedThing	obsolete rare respiratory disease	Rare respiratory system disease.	mondoexuq1wtf	rare respiratory system disease			MONDO:0005087						True		UMLS:CN206934|Orphanet:97955														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MEDDRA:10059177	biolink:NamedThing			mondoexuq1wtf																														
DOID:5115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860231	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156092003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702449004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751780	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038916	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37031009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677821	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76355008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247598	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67277002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85974009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183090	biolink:NamedThing			mondoexuq1wtf																														
DOID:3047	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969624	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154506000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2047520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN037021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3105	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90056003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266569009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154694	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99057	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155347006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2211689	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207317003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192348001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404056007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154635000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464	biolink:NamedThing			mondoexuq1wtf																														
DOID:6196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141103	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126640008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9535	biolink:NamedThing			mondoexuq1wtf																														
DOID:4154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118609008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332982	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616063	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044255	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in, 1	Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501).	mondoexuq1wtf	hair color 3|eye color, blue/Nonblue|skin/hair/eye pigmentation 1, Blond/Brown hair|Brown eye color 2|SHEP1|eye color 3|eye color, Brown/blue|skin/hair/eye pigmentation, variation IN, 1|skin/hair/eye pigmentation 1, blue/Nonblue eyes|skin/hair/eye pigmentation 1, blue/Brown eyes					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:227220																		owl:Class
http://identifiers.org/omim/227220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763276000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605244	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65683	biolink:NamedThing			mondoexuq1wtf																														
DOID:6703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367475009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196102003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931531	biolink:NamedThing			mondoexuq1wtf																														
DOID:7910	biolink:NamedThing			mondoexuq1wtf																														
DOID:6612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230379007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715780008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349631	biolink:NamedThing			mondoexuq1wtf																														
DOID:14679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618511	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531777	biolink:NamedThing			mondoexuq1wtf																														
DOID:11838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267734002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:261478001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188201008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59981001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C32132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725001004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200900001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763833006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313182004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616629	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197791000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070067	biolink:NamedThing			mondoexuq1wtf																														
DOID:9113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7305005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154402000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931885	biolink:NamedThing			mondoexuq1wtf																														
DOID:8122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154269008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722870008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92185002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442191002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250951	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110281	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252100	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0014763	biolink:NamedThing	obsolete Bombay phenotype		mondoexuq1wtf	Reunion variant|para-Bombay phenotype	out of scope								True		OMIM:616754														https://github.com/monarch-initiative/mondo/issues/2942				owl:Class
UMLS:C1859408	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000779	biolink:NamedThing	obsolete apple allergy	A allergy involving a Malus domestica.	mondoexuq1wtf	Malus domestica fruit allergy|Malus domestica allergic disease|allergy of Malus domestica|Malus domestica caused allergic disease	MONDO:outOfScope								True		DOID:0060504														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271017007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239029009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67041	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109333005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93752005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34569	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306862	biolink:NamedThing			mondoexuq1wtf																														
DOID:3906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360375007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707427000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79143006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77090002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367094007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733422008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417290008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851347	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060131	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720416007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238067002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234571003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84727	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796110	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546966	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92336000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847626	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699537002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42569002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335325	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080417	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0859960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867023	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3784	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273969	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100047	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:714279000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699942000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26836	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080412	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297229006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN757795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266481005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3311	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66174008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60168000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN069573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614105	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2721741	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75116005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17300000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16784003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7635	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84562	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60826002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96230	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195299000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128789002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268079007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62100001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158571004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26842	biolink:NamedThing			mondoexuq1wtf																														
DOID:13417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096546	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/547234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151409	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796066	biolink:NamedThing			mondoexuq1wtf																														
DOID:9149	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012227	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198011008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111823001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474822	biolink:NamedThing			mondoexuq1wtf																														
DOID:5189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420835009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:145831000119103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238809002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011694	biolink:NamedThing			mondoexuq1wtf																														
DOID:907	biolink:NamedThing			mondoexuq1wtf																														
DOID:3896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853354	biolink:NamedThing			mondoexuq1wtf																														
DOID:3973	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2211850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18077009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37925008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566690	biolink:NamedThing			mondoexuq1wtf																														
DOID:469	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51239001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600459	biolink:NamedThing			mondoexuq1wtf																														
DOID:2494	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024297	biolink:NamedThing	obsolete nutritional or metabolic disease	A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.	mondoexuq1wtf		out of scope				Editor note: consider expanding to include endocrine	MONDO:0005066|MONDO:0005137			True		MESH:D009750|UMLS:C0028715|ICD10:E00.E90														https://github.com/monarch-initiative/mondo/issues/3157				owl:Class
MESH:D009750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235601001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9631008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193292007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567530	biolink:NamedThing			mondoexuq1wtf																														
DOID:13487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63565007	biolink:NamedThing			mondoexuq1wtf																														
DOID:950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192626002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155112007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424795008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003782	biolink:NamedThing			mondoexuq1wtf																														
DOID:7684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723163000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C146639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405287008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403980002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404511	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601446	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023643	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254478	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155279004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195948000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007874	biolink:NamedThing			mondoexuq1wtf																														
DOID:6276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:806001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3496337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160720	biolink:NamedThing			mondoexuq1wtf																														
DOID:6102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48596006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019275	biolink:NamedThing	obsolete other genetic epidermal disease		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		UMLS:CN205922|Orphanet:79360														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN205922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225315	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90782003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0260662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98567	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254169002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319509	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838280	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78889008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189983005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496893	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019562	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618232	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044276	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in, 11		mondoexuq1wtf	SHEP11|skin/hair/eye pigmentation 11, blue/Nonblue eyes|Melanesian blond hair|skin/hair/eye pigmentation, variation IN, 11					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:612271																		owl:Class
UMLS:C2677086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72262000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90324	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2492	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511047	biolink:NamedThing			mondoexuq1wtf																														
DOID:3127	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83950009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000596385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190029004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:440214006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8098009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080413	biolink:NamedThing			mondoexuq1wtf																														
DOID:5251	biolink:NamedThing			mondoexuq1wtf																														
DOID:5029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155577001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612416	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613390	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018199	biolink:NamedThing			mondoexuq1wtf																														
DOID:6275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362975008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723307008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN889218	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34848	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206701	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017727	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617153	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220721	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339394	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699812002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76092003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2593002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021845	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605711	biolink:NamedThing			mondoexuq1wtf																														
DOID:6873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67678004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30265004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27230006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44279002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156680002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764098007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014541	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220710	biolink:NamedThing			mondoexuq1wtf																														
DOID:14453	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018464	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226906	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155962003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763273008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128928004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300978	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128845005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235067001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25106000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80126007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502366	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201132	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193832003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60026	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373905003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565847	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188543002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040087	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C172823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67044	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3716	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111475	biolink:NamedThing			mondoexuq1wtf																														
DOID:2750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:965	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155223	biolink:NamedThing			mondoexuq1wtf																														
DOID:1140	biolink:NamedThing			mondoexuq1wtf																														
DOID:11783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230277007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614602	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608758	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421246008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198001001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3197	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717264003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044270	biolink:NamedThing	obsolete bilirubin, serum level of, quantitative trait locus 1		mondoexuq1wtf	BILIQTL1|bilirubin, serum level OF, quantitative trait locus 1					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:601816																		owl:Class
UMLS:C1866173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1314678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240376003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192877007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733116005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336709	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009223	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27046	biolink:NamedThing			mondoexuq1wtf																														
DOID:10526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205496	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38215007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2453	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3422	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051643	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3319	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118840	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617232	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98288	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1140680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206431009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931682	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206426	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154881002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448794008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722451006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23975003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7199000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0439857	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5300004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3877	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519852	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189649001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64746	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3537	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764855007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537369	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0078981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086652	biolink:NamedThing			mondoexuq1wtf																														
DOID:1724	biolink:NamedThing			mondoexuq1wtf																														
DOID:7213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155971007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154925009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3706	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015904	biolink:NamedThing	obsolete rare hypolipidemia		mondoexuq1wtf				MONDO:0000001			ICD10:E78.6			True		Orphanet:181431|UMLS:CN226783														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:367489004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68504005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239112008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537167	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562907	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600460	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858592	biolink:NamedThing			mondoexuq1wtf																														
DOID:2410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C13011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126965008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024657	biolink:NamedThing	obsolete macrocystic neurilemmoma		mondoexuq1wtf						The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic	MONDO:0002556			True		DOID:3203																		owl:Class
DOID:3203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609622007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93943008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267722005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468620	biolink:NamedThing			mondoexuq1wtf																														
DOID:13481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334497	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269435009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314822	biolink:NamedThing			mondoexuq1wtf																														
DOID:3148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95518006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237734007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:164261009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35489007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266163	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253081009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192490006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857344	biolink:NamedThing			mondoexuq1wtf																														
DOID:7531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238523008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202036	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36408	biolink:NamedThing			mondoexuq1wtf																														
DOID:9460	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733625003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29227009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4396	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832605	biolink:NamedThing			mondoexuq1wtf																														
DOID:14681	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62522004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149978	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111420	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019059	biolink:NamedThing	obsolete rare parkinsonian disorder	Rare parkinsonian disorder.	mondoexuq1wtf	rare parkinsonian disorder|rare hypokinetic movement disorder			MONDO:0021095			UMLS:C0242422			True		Orphanet:68402														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C538335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716723000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535886	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27549	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77121009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137902	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72789009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563960	biolink:NamedThing			mondoexuq1wtf																														
DOID:8488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54664	biolink:NamedThing			mondoexuq1wtf																														
DOID:11217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81483001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360378009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154534007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33168009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270545000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024622	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126778001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15045007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426373005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN339707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367487002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537190	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401996	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930842	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200569	biolink:NamedThing			mondoexuq1wtf																														
DOID:8456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:184346000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49198006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65778007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31054009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193164007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128735004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733506009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155195	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79883001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111513000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300963	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110084	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724070005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151059	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110803	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:218439	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196484005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201471003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857297	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566812	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029835	biolink:NamedThing			mondoexuq1wtf																														
DOID:13271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186674002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675522	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050729	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016636	biolink:NamedThing	obsolete thrombotic disorder due to a constitutional platelet anomaly		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:248401|UMLS:CN226986														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
NCIT:C27070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297256008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83076007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286945007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268107007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721229003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723821002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76098004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269639005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423471004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187874006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65340007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45283008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253186001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764945007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3812646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92083007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607225	biolink:NamedThing			mondoexuq1wtf																														
DOID:2066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724096007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39402007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1572	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140896	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150678	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044259	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in, 2	Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action.	mondoexuq1wtf	SHEP2|Red hair color|Rha|skin/hair/eye pigmentation, variation IN, 2|UV-induced skin damage, susceptibility to|Blond hair/fair skin|hair color 2					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:266300																		owl:Class
http://identifiers.org/omim/266300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137400	biolink:NamedThing			mondoexuq1wtf																														
DOID:670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861097	biolink:NamedThing			mondoexuq1wtf																														
DOID:10236	biolink:NamedThing			mondoexuq1wtf																														
DOID:10791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4403	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718717004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205647005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295187	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44176004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197821004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015108	biolink:NamedThing	obsolete rare non-syndromic intellectual disability	Rare non-syndromic intellectual disability.	mondoexuq1wtf	rare non-syndromic intellectual deficiency|rare non-syndromic intellectual disability|rare NSID|rare intellectual disability without developmental anomaly			MONDO:0000509						True		Orphanet:101685|GARD:0012633|UMLS:CN226598														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226598	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016132	biolink:NamedThing	obsolete rare hereditary disease with peripheral neuropathy		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0392553			True		Orphanet:207015														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:2322	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234568006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716238003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838263	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009217	biolink:NamedThing			mondoexuq1wtf																														
DOID:1726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864908	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015885	biolink:NamedThing	obsolete rare insulin-resistance syndrome	A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.	mondoexuq1wtf	insulin Resistance syndrome	MONDO:outOfScope				Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic				True		Orphanet:181368|UMLS:C3714619|NCIT:C113169														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C113169	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617443	biolink:NamedThing			mondoexuq1wtf																														
DOID:11406	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268125000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93678005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192914009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234584007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363228008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55045006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2704003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28783002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699382004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127389001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930859	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244941	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540020	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018732	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C3714873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156129002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3645536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94101009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254913005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24007003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6025	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843691	biolink:NamedThing			mondoexuq1wtf																														
DOID:3706	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0541912	biolink:NamedThing			mondoexuq1wtf																														
DOID:490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200980003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1329	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163953	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86875	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268250	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008659	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165720	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021122	biolink:NamedThing	obsolete small cell neuroendocrine carcinoma		mondoexuq1wtf				MONDO:0000402						True																				owl:Class
DOID:0050875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:287688007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48718006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1512	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240842000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194379003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341106	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78745000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3618	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023663	biolink:NamedThing	obsolete macrocephaly mesodermal hamartoma spectrum		mondoexuq1wtf	hemihypertrophy and macrocephaly|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Elattoproteus syndrome			MONDO:0008318		Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920				True		GARD:0000170|MESH:C537716|UMLS:C1867610														https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum				owl:Class
UMLS:CN206914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230500006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203845002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151444	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105632002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4984	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197832004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46236001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193069	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400210000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183675	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024748	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021170	biolink:NamedThing	obsolete amyotonia congenita		mondoexuq1wtf	Oppenheim disease|Oppenheim's disease|amyotonia congenita									True		GARD:0005798																		owl:Class
UMLS:C0002735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029461	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171673	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126922007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79556007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93419003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99797	biolink:NamedThing			mondoexuq1wtf																														
DOID:5507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162210	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085690	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237059008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3671377	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118460	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414929001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182043	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236422008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2876	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155559006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726346004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255034006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865286	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187851007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613721	biolink:NamedThing			mondoexuq1wtf																														
DOID:7676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266365004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189721001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403395007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48082007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35369	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154447004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6068	biolink:NamedThing			mondoexuq1wtf																														
DOID:6167	biolink:NamedThing			mondoexuq1wtf																														
DOID:3184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:445018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155738001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72011007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109476006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197187000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87121004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363065	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373426005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2733623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111415	biolink:NamedThing			mondoexuq1wtf																														
DOID:4627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119424003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155096007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1682	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277605001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84824	biolink:NamedThing			mondoexuq1wtf																														
DOID:1982	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4764	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50644009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307592006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151140	biolink:NamedThing			mondoexuq1wtf																														
DOID:6880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103817	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763532008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416925005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57254004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227215	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163746	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565884	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155617000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1116	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860519	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715575001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277527003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190937009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196345001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565377	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268240006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3840	biolink:NamedThing			mondoexuq1wtf																														
DOID:10128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156391001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005705	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080584	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110980	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065634	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3751	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425657001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197432008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267847004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444408007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607765	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C46004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502444	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17869006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050304	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109981009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN028867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108969	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197780007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403900000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34877	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0599990	biolink:NamedThing			mondoexuq1wtf																														
DOID:10883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188588001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35055000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018931	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4610	biolink:NamedThing			mondoexuq1wtf																														
DOID:5446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609519004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94109006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614257	biolink:NamedThing			mondoexuq1wtf																														
DOID:2012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718559000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888925	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79326	biolink:NamedThing			mondoexuq1wtf																														
DOID:3074	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005251	biolink:NamedThing	obsolete pauciarticular juvenile rheumatoid arthritis	A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children.	mondoexuq1wtf										True		ICD10:M08.4|ICD9:714.32|EFO:0003114|SCTID:74391003																		owl:Class
SNOMEDCT:74391003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131652	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111142	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390730002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128426	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230425004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400190005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020565	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188271007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233964008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020005	biolink:NamedThing	obsolete rare endocrine disease	Rare endocrine system disease.	mondoexuq1wtf	rare endocrine system disease			MONDO:0005151						True		UMLS:CN206938|Orphanet:97978														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89647000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310714	biolink:NamedThing			mondoexuq1wtf																														
DOID:5648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833909	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130993	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1423690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45745	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78200003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441658007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35455006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5630	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40292	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707460002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:47159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92247009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609437000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363462005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733112007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237877004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857423	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392371002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193146000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717945001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013543	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363992	biolink:NamedThing			mondoexuq1wtf																														
DOID:9279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722106001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074218	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70211005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56454009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73465006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69134001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535799	biolink:NamedThing			mondoexuq1wtf																														
DOID:4306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190322003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2444	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4669	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75564	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618324	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84537008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128642005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310742	biolink:NamedThing			mondoexuq1wtf																														
DOID:14099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286960005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93356	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33449004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610379	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007415	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37810007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29976007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93614	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32891000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363746003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11990	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150216	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017414	biolink:NamedThing	obsolete rare nevus	Rare nevus.	mondoexuq1wtf	rare nevus|rare melanocytic nevus			MONDO:0005073			UMLS:C0027960			True		Orphanet:294057														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1839891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2960005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128655006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191331006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126879004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128869009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372138000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237632	biolink:NamedThing			mondoexuq1wtf																														
DOID:5874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060263	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154389006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398064005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363976	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717944002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68131004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:287014004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70558001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155597006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003952	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064332	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54150009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254176007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155724	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1802395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703525006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:761958009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69482004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285756005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417081007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537236	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75119	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56425	biolink:NamedThing			mondoexuq1wtf																														
DOID:11781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295103	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332556	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563383	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74942003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87494005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024248	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014924	biolink:NamedThing			mondoexuq1wtf																														
DOID:5283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276751004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186768005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93688006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247854	biolink:NamedThing			mondoexuq1wtf																														
DOID:960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274107001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8808004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:107671003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398100001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34481	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334303	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239017000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845293	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257970	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193687000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:849000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71085009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268980	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334240	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019061	biolink:NamedThing	obsolete rare parathyroid disease and phosphocalcic metabolism anomaly		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN205542|Orphanet:68415														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:68415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0563211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280792	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765763007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764696007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432347	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070147	biolink:NamedThing			mondoexuq1wtf																														
DOID:9074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012147	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000163	biolink:NamedThing	obsolete breast-ovarian cancer, familial, susceptibility to		mondoexuq1wtf				MONDO:0003582						True																				owl:Class
UMLS:C1842674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423693	biolink:NamedThing			mondoexuq1wtf																														
DOID:12156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763717004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:856	biolink:NamedThing			mondoexuq1wtf																														
DOID:14524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189290005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3753	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193347002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719946008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226138	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154630005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80281008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150170	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222748	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206429	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090013	biolink:NamedThing			mondoexuq1wtf																														
DOID:13110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27701000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72722003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310745	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191182000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300858	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869114	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001763	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271510	biolink:NamedThing			mondoexuq1wtf																														
DOID:10866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187875007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868264	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563759	biolink:NamedThing			mondoexuq1wtf																														
DOID:11367	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202351	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83642	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005830	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158810	biolink:NamedThing			mondoexuq1wtf																														
DOID:0112198	biolink:NamedThing			mondoexuq1wtf																														
DOID:2436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98964	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535751	biolink:NamedThing			mondoexuq1wtf																														
DOID:8505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343676	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4799	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128390	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254589009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302878	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393581005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156372	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55379003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719203001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707449006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266130	biolink:NamedThing			mondoexuq1wtf																														
DOID:11371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193428001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187438009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98823	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236380004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020619	biolink:NamedThing	obsolete blood group, langereis system		mondoexuq1wtf	LAN|BLOOD GROUP, LANGEREIS SYSTEM									True		OMIM:111600																		owl:Class
UMLS:C3276339	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10046369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:322224003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836907	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240466002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750729	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2868	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334638	biolink:NamedThing			mondoexuq1wtf																														
DOID:11889	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617187	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300604	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154484002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852488	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25220001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0678185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155589004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267713009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722201004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200999007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616859	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060224	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537241	biolink:NamedThing			mondoexuq1wtf																														
DOID:9621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1533	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617831	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750952	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63086004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260326	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303012000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269532005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699311001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717332007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842939	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003607	biolink:NamedThing			mondoexuq1wtf																														
DOID:5030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277475006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120162	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232208008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718182008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23817003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014457	biolink:NamedThing			mondoexuq1wtf																														
DOID:841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195208004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193831005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46238000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197710000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190172008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187515009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82821008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5346	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134337007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617337	biolink:NamedThing			mondoexuq1wtf																														
DOID:2565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28770003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399947002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154973004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237929000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111010	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608133	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248408	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537582	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41248	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6336	biolink:NamedThing			mondoexuq1wtf																														
DOID:10190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35376	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255225007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717338006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723999009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1412	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196341005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129452008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127013003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155569000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443094001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191195005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254662007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719010001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4450	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565324	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045545	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156811005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715755008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89832	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719600006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7586	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004695	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110891	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557674	biolink:NamedThing			mondoexuq1wtf																														
DOID:2473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155456002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235075007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190901004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103916	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003744	biolink:NamedThing			mondoexuq1wtf																														
DOID:7231	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99983	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387778001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266113007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190065009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859371	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564403	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567220	biolink:NamedThing			mondoexuq1wtf																														
DOID:3367	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398694	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343064	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152101	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018326	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253038006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309836	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195353004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845717	biolink:NamedThing			mondoexuq1wtf																														
DOID:12718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93764002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88854002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274144001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193064	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55760004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724176001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673203	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080517	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111728	biolink:NamedThing			mondoexuq1wtf																														
DOID:3693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156097009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333750	biolink:NamedThing			mondoexuq1wtf																														
DOID:4853	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153178	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119991	biolink:NamedThing			mondoexuq1wtf																														
DOID:1938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4023176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458768	biolink:NamedThing			mondoexuq1wtf																														
DOID:3293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014676	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266447004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193286001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015115	biolink:NamedThing	obsolete rare genetic metabolic liver disease		mondoexuq1wtf				MONDO:0005066			MedDRA:10019689			True		Orphanet:101940|UMLS:C0851734														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C6179	biolink:NamedThing			mondoexuq1wtf																														
MESH:C002806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862458	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866849	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79417003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193937005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300389006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080396	biolink:NamedThing			mondoexuq1wtf																														
DOID:2725	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110981005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28307001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1493002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31107007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016053	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684324	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27084	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011644	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479655	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720981000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129618003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63454000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2382	biolink:NamedThing			mondoexuq1wtf																														
DOID:8440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616672	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155071009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719171005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21664006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13272	biolink:NamedThing			mondoexuq1wtf																														
DOID:8725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93473009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0858233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26912	biolink:NamedThing			mondoexuq1wtf																														
DOID:2086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4024851	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563813	biolink:NamedThing			mondoexuq1wtf																														
DOID:3852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865974	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238578	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0110356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12690005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57048009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718104007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26883	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155064004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2347126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4316913	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428700003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6772	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25981000119102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195537001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402965002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267450006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49783001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616974	biolink:NamedThing			mondoexuq1wtf																														
DOID:2741	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1485	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319487	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237252008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109966003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420079008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204593009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN349871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57500000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085179	biolink:NamedThing			mondoexuq1wtf																														
DOID:5207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:797	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724356003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55382008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060458	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045743	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931506	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392368005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832444	biolink:NamedThing			mondoexuq1wtf																														
DOID:1962	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070635	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4905	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34656	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111675	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716998009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234118009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228374	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038525	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535998	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155603009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603918	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020625	biolink:NamedThing	obsolete blood group--wright antigen		mondoexuq1wtf	Wright Blood Group Antigen|BLOOD GROUP--WRIGHT ANTIGEN|WR									True		OMIM:112050																		owl:Class
UMLS:C1862190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92272009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295051	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116816	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015473	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267746003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607208	biolink:NamedThing			mondoexuq1wtf																														
DOID:5275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399050001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52918004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340308	biolink:NamedThing			mondoexuq1wtf																														
DOID:14695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35729	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832841	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193377008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63440008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266134000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40733004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615774	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080461	biolink:NamedThing			mondoexuq1wtf																														
DOID:10193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230687001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155162	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049066	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535740	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050073	biolink:NamedThing			mondoexuq1wtf																														
DOID:4558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466695	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565328	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868714	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205695001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197779009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776903	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40153	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024033	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618622	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402567004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271789	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715900001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063691	biolink:NamedThing			mondoexuq1wtf																														
DOID:1827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607017	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618641	biolink:NamedThing			mondoexuq1wtf																														
DOID:10608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301029	biolink:NamedThing			mondoexuq1wtf																														
DOID:1748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242132	biolink:NamedThing			mondoexuq1wtf																														
DOID:14559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276539	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619174	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537718	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124070	biolink:NamedThing			mondoexuq1wtf																														
DOID:5411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47312008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403922007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192330005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367418000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202635007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264656	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070284	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357158	biolink:NamedThing			mondoexuq1wtf																														
DOID:7222	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614341	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607200	biolink:NamedThing			mondoexuq1wtf																														
DOID:2030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267904003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319595	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566357	biolink:NamedThing			mondoexuq1wtf																														
DOID:2347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN417133	biolink:NamedThing			mondoexuq1wtf																														
DOID:3480	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75483	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34928	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564876	biolink:NamedThing			mondoexuq1wtf																														
DOID:6524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68345001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206697	biolink:NamedThing			mondoexuq1wtf																														
DOID:8791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202455001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512740	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720010009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764625002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733630004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10623005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866505	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011608	biolink:NamedThing			mondoexuq1wtf																														
DOID:6001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN873435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013295	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535827	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751829	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95598	biolink:NamedThing			mondoexuq1wtf																														
DOID:5146	biolink:NamedThing			mondoexuq1wtf																														
DOID:8203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607014	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766879006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93822006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137831	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417570003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720955004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618117	biolink:NamedThing			mondoexuq1wtf																														
DOID:3917	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201199002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254068007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2187547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601462	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566247	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719253007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1776003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74351001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239065004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335307	biolink:NamedThing			mondoexuq1wtf																														
DOID:9650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62479008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019202	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152249	biolink:NamedThing			mondoexuq1wtf																														
DOID:14139	biolink:NamedThing			mondoexuq1wtf																														
DOID:10456	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563277	biolink:NamedThing			mondoexuq1wtf																														
DOID:8438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101840	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000528	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:363350007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42030000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90039006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238612002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604254	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94134006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169615	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:29822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600195	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241593	biolink:NamedThing			mondoexuq1wtf																														
DOID:6837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50923006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111317000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111398009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193500005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748940	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765977002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128711009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN241052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56048001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567210	biolink:NamedThing			mondoexuq1wtf																														
DOID:1498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196672001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511189	biolink:NamedThing			mondoexuq1wtf																														
DOID:14497	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035851	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331217	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748549	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060707	biolink:NamedThing			mondoexuq1wtf																														
DOID:4322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702424003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17568006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228290	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40142	biolink:NamedThing			mondoexuq1wtf																														
DOID:2734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707530009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194265008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58037000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155032006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267785	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:244815007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195763009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123321001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6273006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162082007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346390	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037652	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016606	biolink:NamedThing	obsolete prenatal benign hypophosphatasia	Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.	mondoexuq1wtf	prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease	out of scope					http://purl.obolibrary.org/obo/MONDO_0600009|http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600010			True		Orphanet:247638|ICD10:E83.3|UMLS:CN201801														https://github.com/monarch-initiative/mondo/issues/2906				owl:Class
MESH:D012214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715432009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154678005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18690003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280558	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334649	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197899005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41377	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919746	biolink:NamedThing			mondoexuq1wtf																														
DOID:8272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809031	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:163999003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011704	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564152	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77293	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254576003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234478007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51720005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99802	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58718002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618112	biolink:NamedThing			mondoexuq1wtf																														
DOID:10235	biolink:NamedThing			mondoexuq1wtf																														
DOID:4304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190780005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111575000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186824002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154822006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750732	biolink:NamedThing			mondoexuq1wtf																														
DOID:9709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540299	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010534	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50490005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111551	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314978	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614665	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535388	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278919001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21851000119103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN653908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45639009	biolink:NamedThing			mondoexuq1wtf																														
DOID:8057	biolink:NamedThing			mondoexuq1wtf																														
DOID:13738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4405	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015887	biolink:NamedThing	obsolete rare diabetes mellitus type 2		mondoexuq1wtf	rare insulin-independent diabetes mellitus	MONDO:outOfScope					UMLS:C0011860			True		Orphanet:181376														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:154456007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673377	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018288	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562657	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51636	biolink:NamedThing			mondoexuq1wtf																														
DOID:3389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363388009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300613	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188299003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795818	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0522274	biolink:NamedThing			mondoexuq1wtf																														
DOID:6018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017327	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035078	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155966000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186738001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842614	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420788006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27619	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011543	biolink:NamedThing	obsolete BRCA3		mondoexuq1wtf	moved to 114480|breast cancer 3|Brcax|BRCA3					See https://omim.org/entry/114480	MONDO:0016419			True		MESH:C565336|UMLS:C1854365|OMIM:605365														https://github.com/monarch-initiative/mondo/issues/1700				owl:Class
http://identifiers.org/omim/605365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204958008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720853005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2962	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848638	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725286002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1259003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614432	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76909002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716683005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309239	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230413002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566987	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054038	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193163001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766815007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263579	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156453002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186124000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567279	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020199	biolink:NamedThing	obsolete conjunctival vascular anomaly		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0006170			True		Orphanet:98611																		owl:Class
UMLS:C0042370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190786004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155875004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5854	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036992	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308126005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410539	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2515	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006075	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006062	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:403889000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2058	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044225	biolink:NamedThing	obsolete creatine kinase, brain type, ectopic expression of		mondoexuq1wtf	creatine KINASE, brain type, ectopic expression OF|CKBE					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:1992																		owl:Class
UMLS:C3887923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:450697004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2089002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720609003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445738007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254395	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616449	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445431000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123815	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204605001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566836	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414545008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84730	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006413	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:D005756	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193013	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015851	biolink:NamedThing	obsolete rare breast malformation		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0266008			True		Orphanet:180163														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:180163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76612001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203618	biolink:NamedThing			mondoexuq1wtf																														
DOID:13725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189829008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931471	biolink:NamedThing			mondoexuq1wtf																														
DOID:3241	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827407	biolink:NamedThing			mondoexuq1wtf																														
DOID:11824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72007001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070113	biolink:NamedThing			mondoexuq1wtf																														
DOID:4156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863351	biolink:NamedThing			mondoexuq1wtf																														
DOID:4504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370088	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:175497008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75547007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190766003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300493	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268413	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31186001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN757797	biolink:NamedThing			mondoexuq1wtf																														
DOID:1272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206459	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1678	biolink:NamedThing			mondoexuq1wtf																														
DOID:9267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878679	biolink:NamedThing			mondoexuq1wtf																														
DOID:9905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305968	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403771007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84624	biolink:NamedThing			mondoexuq1wtf																														
MESH:C543092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254263008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90033	biolink:NamedThing			mondoexuq1wtf																														
DOID:2860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611928	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615361	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614702	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38406003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673611	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346031	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070133	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188497004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4545381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34752	biolink:NamedThing			mondoexuq1wtf																														
DOID:5551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201625003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300136	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25147002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443250000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1934	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47523006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268126004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566194	biolink:NamedThing			mondoexuq1wtf																														
DOID:10907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763220008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274281	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190805007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190548005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18910001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334532	biolink:NamedThing			mondoexuq1wtf																														
DOID:2566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4530000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273900	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225165	biolink:NamedThing			mondoexuq1wtf																														
DOID:4991	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158231005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189262006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2110	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36194	biolink:NamedThing			mondoexuq1wtf																														
DOID:10973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396233005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27836007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129733	biolink:NamedThing			mondoexuq1wtf																														
DOID:9375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415717005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:437572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619024	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718052004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202903009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67944007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715128	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308940	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:243321006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:853	biolink:NamedThing			mondoexuq1wtf																														
DOID:4870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20427003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720507006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10529	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601369	biolink:NamedThing			mondoexuq1wtf																														
DOID:10846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89155008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16269008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305875	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111661	biolink:NamedThing			mondoexuq1wtf																														
DOID:12685	biolink:NamedThing			mondoexuq1wtf																														
DOID:7269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156190009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3826988	biolink:NamedThing			mondoexuq1wtf																														
DOID:4993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334330	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711164003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855371	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155170007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715664005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020222	biolink:NamedThing	obsolete rare disease with glaucoma as a major feature		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN207054|Orphanet:98638														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
MESH:D065310	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187707009	biolink:NamedThing			mondoexuq1wtf																														
DOID:8886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205768	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617907	biolink:NamedThing			mondoexuq1wtf																														
DOID:6594	biolink:NamedThing			mondoexuq1wtf																														
DOID:4057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52506002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404065000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75726005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74532006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266408001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277567002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206284	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020844	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614892	biolink:NamedThing			mondoexuq1wtf																														
DOID:1406	biolink:NamedThing			mondoexuq1wtf																														
DOID:4796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13266007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80373	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718689000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38101003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751637	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190240002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68272006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254961003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254840009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527304	biolink:NamedThing			mondoexuq1wtf																														
DOID:3928	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235825006	biolink:NamedThing			mondoexuq1wtf																														
DOID:349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722375007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126770008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188695001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001815	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190559001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78921008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414263007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155576005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369881	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617217	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155813004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190296009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0598790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303070000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110914	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76594008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863702	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930927	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191224009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70090004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423633003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154639	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35548007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510860	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399805	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015965	biolink:NamedThing	obsolete rare genetic refraction anomaly		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN226813|Orphanet:183601														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278070007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137926	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196697002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52994003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193942002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189935007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197144003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247803002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268762007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25476006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28293008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008532	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189910001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931635	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17540007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86884	biolink:NamedThing			mondoexuq1wtf																														
DOID:6607	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070181	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008191	biolink:NamedThing	obsolete human papillomavirus type 18 integration site 2		mondoexuq1wtf							http://identifiers.org/hgnc/5167			True																				owl:Class
UMLS:C1415709	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154420009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280062	biolink:NamedThing			mondoexuq1wtf																														
DOID:9125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91521000119104	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75390007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698250005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157022000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0578869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716859000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319519	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154616000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414380008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270178	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4510004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99877	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764459008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720494009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748799	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126493	biolink:NamedThing			mondoexuq1wtf																														
DOID:4483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266151007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267706009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230740	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566618	biolink:NamedThing			mondoexuq1wtf																														
DOID:11816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408642003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449902003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565822	biolink:NamedThing			mondoexuq1wtf																														
DOID:13865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254852002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3896578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35760	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111537	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98907	biolink:NamedThing			mondoexuq1wtf																														
DOID:11726	biolink:NamedThing			mondoexuq1wtf																														
DOID:8731	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266200005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215720	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722390006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080448	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609254	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021198	biolink:NamedThing	obsolete rare genetic disease		mondoexuq1wtf				MONDO:0000001						True		Orphanet:98053|UMLS:CN206953														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862683	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601353	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55408009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2948	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1418399	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154275004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193388002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001327	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060117	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336537	biolink:NamedThing			mondoexuq1wtf																														
DOID:8654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406619001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763068005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266147005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267512002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111232005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2348006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711482008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83025009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12856003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192365005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2413	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140450	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398173	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567644	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268242	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327916	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30390004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9945	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719396000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196603007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186585005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155941004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30753002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020550	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197936002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189562005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265430	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044274	biolink:NamedThing	obsolete hemoglobin, high altitude adaptation	Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}).	mondoexuq1wtf	HALAH|HEMOGLOBIN, high altitude adaptation|Hemoglobin, high oxygen saturation of					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:609070																		owl:Class
http://identifiers.org/omim/609070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531667	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187650	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003095	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616943	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205470006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:776009	biolink:NamedThing			mondoexuq1wtf																														
DOID:12351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859721	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537871	biolink:NamedThing			mondoexuq1wtf																														
MESH:D028361	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015899	biolink:NamedThing	obsolete rare primary hyperaldosteronism	Any of the forms of primary aldosteronism that have a rare incidence.	mondoexuq1wtf	rare primary aldosteronism|rare Conn's syndrome|rare Conn syndrome			MONDO:0001422			ICD10:E26.0|UMLS:C1384514			True		Orphanet:181415														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:181415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866495	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722006004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9618003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193830006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN623017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64559002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86074002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430079001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168621	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39427000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025221	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36866003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152062	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416633008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519861	biolink:NamedThing			mondoexuq1wtf																														
DOID:14039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567018	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018410	biolink:NamedThing	obsolete rare genetic female infertility		mondoexuq1wtf				MONDO:0021124						True		Orphanet:400008|UMLS:CN227353														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:156640006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734020000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2074	biolink:NamedThing			mondoexuq1wtf																														
DOID:3963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931201	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536927	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29555009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12167004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853507	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017996	biolink:NamedThing	obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0009485			True		UMLS:CN204202|Orphanet:329255																		owl:Class
ORPHA:329255	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128784007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4852	biolink:NamedThing			mondoexuq1wtf																														
DOID:12140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192913003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155230007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367137004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153192	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158641	biolink:NamedThing			mondoexuq1wtf																														
DOID:2664	biolink:NamedThing			mondoexuq1wtf																														
DOID:1932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266192003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79479	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517113	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201444003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189745002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67090	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406369	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191132005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57809008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36949004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195764003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60952007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6522	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024646	biolink:NamedThing	obsolete refractory		mondoexuq1wtf				HP:0031375						True		NCIT:C39752|UMLS:C1514815																		owl:Class
NCIT:C39752	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719661007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563561	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36601008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:164726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312428002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567844	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127217009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060476	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418035005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267456000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080326	biolink:NamedThing			mondoexuq1wtf																														
DOID:5196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186895005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720569006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703334000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236663	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011350	biolink:NamedThing			mondoexuq1wtf																														
DOID:450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202935009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267510005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197679002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188254006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751698	biolink:NamedThing			mondoexuq1wtf																														
DOID:2799	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26787	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254581007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603047	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234411007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253021007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191575006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10074583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722108000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1797	biolink:NamedThing			mondoexuq1wtf																														
DOID:3009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266458008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609398007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850269	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302851001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721158009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68467004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324307	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205800003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98255	biolink:NamedThing			mondoexuq1wtf																														
DOID:6258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196147002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137220	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617432	biolink:NamedThing			mondoexuq1wtf																														
DOID:8399	biolink:NamedThing			mondoexuq1wtf																														
DOID:13756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399533005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187279007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751315	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194467002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254664008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016643	biolink:NamedThing			mondoexuq1wtf																														
DOID:9765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94371000119107	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002819	biolink:NamedThing			mondoexuq1wtf																														
DOID:10865	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85286	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40610006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163927	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67871000119105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:280816001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496860	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017927	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612649	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020037	biolink:NamedThing	obsolete rare gynecological tumor	Rare female reproductive system neoplasm.	mondoexuq1wtf	rare gynaecological neoplasm|rare female reproductive system neoplasm|rare gynaecological cancer			MONDO:0021148			UMLS:C0699889|UMLS:C0017416			True		Orphanet:98063|UMLS:CN206962														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/601853	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93972009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850383	biolink:NamedThing			mondoexuq1wtf																														
DOID:96	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155420	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001662	biolink:NamedThing	obsolete right bundle branch block		mondoexuq1wtf	obsolete right bundle branch block (disease)|right bundle branch block|right bundle branch block with left posterior fascicular block		obsolete right bundle branch block (disease)				HP:0011712			True		SCTID:59118001|ICD9:426.4|COHD:314059|DOID:13209|ICD9:426.51|HP:0011712														https://github.com/monarch-initiative/mondo/issues/2536				owl:Class
DOID:13209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193856004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612447	biolink:NamedThing			mondoexuq1wtf																														
DOID:10773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717334008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718575002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272066	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464343	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47382004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726021008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040414	biolink:NamedThing			mondoexuq1wtf																														
DOID:5200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763617006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189932005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335309	biolink:NamedThing			mondoexuq1wtf																														
DOID:862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1834	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720826006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419611	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194349005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128772005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236644005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154476001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3161174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155262	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537568	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276240	biolink:NamedThing			mondoexuq1wtf																														
DOID:774	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195196001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68453008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196589002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126854002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608367	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20957000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717774004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709281006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154806	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4381	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63275	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538228	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715316005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716169009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C68611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN030661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194371000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:482601	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84828	biolink:NamedThing			mondoexuq1wtf																														
DOID:4409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154485001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31155007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010018	biolink:NamedThing			mondoexuq1wtf																														
DOID:3643	biolink:NamedThing			mondoexuq1wtf																														
DOID:8335	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211770	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004674	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015577	biolink:NamedThing	obsolete rare parasitic disease	Any of the forms of parasitic infection that have a rare incidence.	mondoexuq1wtf	rare parasitic infection|rare parasitic infectious disease			MONDO:0005135			UMLS:C0030499|UMLS:C0747256			True		UMLS:CN199940|Orphanet:163588														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN199940	biolink:NamedThing			mondoexuq1wtf																														
DOID:3001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187782001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616788	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50802	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110918	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68381	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405288003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1272305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616389	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196286005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537756	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716024001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28054005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609574004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860789	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015451	biolink:NamedThing			mondoexuq1wtf																														
DOID:11232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202930004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431795	biolink:NamedThing			mondoexuq1wtf																														
DOID:540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200326003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152953	biolink:NamedThing			mondoexuq1wtf																														
DOID:2862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197033008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4665	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186544000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187383009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605809	biolink:NamedThing			mondoexuq1wtf																														
DOID:134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31166000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58381000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137675	biolink:NamedThing			mondoexuq1wtf																														
DOID:9439	biolink:NamedThing			mondoexuq1wtf																														
DOID:3010	biolink:NamedThing			mondoexuq1wtf																														
DOID:8602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203738	biolink:NamedThing			mondoexuq1wtf																														
DOID:9191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8316001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254940005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192366006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372097009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058165	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335752	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015297	biolink:NamedThing	obsolete microcephaly-digital anomalies-intellectual disability syndrome		mondoexuq1wtf	Kelly-Kirson-Wyatt syndrome					Obsolete in Orphanet	MONDO:0009622			True		Orphanet:137653|ICD10:Q87.8|UMLS:CN199250																		owl:Class
ORPHA:137653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414794006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867442	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84914	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304844	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85779008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93611	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724152009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347125	biolink:NamedThing			mondoexuq1wtf																														
DOID:518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17234001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810012	biolink:NamedThing			mondoexuq1wtf																														
DOID:10175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302859004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99798	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230418006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196145005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855858	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721220004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4989	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677434	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240625009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95416007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191647000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187210003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835814	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2202741	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050430	biolink:NamedThing			mondoexuq1wtf																														
DOID:5370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201484007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187079000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187622006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156988007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716231009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155177005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93987004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7428	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344460	biolink:NamedThing			mondoexuq1wtf																														
DOID:1762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764096006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109965004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1701939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203120002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230543003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080276	biolink:NamedThing			mondoexuq1wtf																														
DOID:5628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302839003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25362006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7179	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7429002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048951	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277576009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206467002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44882003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26889001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187644001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189099001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722055008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749685	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609618002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75875004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853616	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62557001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0747548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718764004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137605	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202048	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40256	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566736	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304537	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133780	biolink:NamedThing			mondoexuq1wtf																														
MESH:D039941	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6795	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413654009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716771000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3729	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613757	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722065002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715397000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187055002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237743	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617132	biolink:NamedThing			mondoexuq1wtf																														
DOID:13520	biolink:NamedThing			mondoexuq1wtf																														
DOID:10073	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110327	biolink:NamedThing			mondoexuq1wtf																														
DOID:11832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90924007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853892	biolink:NamedThing			mondoexuq1wtf																														
DOID:3108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930979	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253020008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231930000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254864005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400006008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206523001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445503007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718615003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48868008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93782004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2698016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111386004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN873436	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065857	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111440	biolink:NamedThing			mondoexuq1wtf																														
DOID:5849	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6163	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34800	biolink:NamedThing			mondoexuq1wtf																														
DOID:1340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193685008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1428921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61972007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70759006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266206004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3109	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010403	biolink:NamedThing			mondoexuq1wtf																														
DOID:2670	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34925000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193221009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196743006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840266	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060542	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92549006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155002003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346609	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7359008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268141	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733037000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011127	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3301	biolink:NamedThing			mondoexuq1wtf																														
DOID:1235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725592009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406366	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334438	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537862	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276952000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99081	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192468006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30288003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206784007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719848005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23205009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398156	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60258001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70589	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204113001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345967	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763864008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721974000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7279	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080462	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685394	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044282	biolink:NamedThing	obsolete blood group, vel system	The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}).	mondoexuq1wtf	VEL|blood group, VEL system|Vel-null phenotype					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:615264																		owl:Class
UMLS:C2745907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99893	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191381002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607361	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83838002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614229	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186644005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721099001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111578003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3897034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18347007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386810004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0058967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27240009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99789	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230499002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36310008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254756007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35487009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3538945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96325	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127057004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849813	biolink:NamedThing			mondoexuq1wtf																														
DOID:583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128665000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48976006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255088001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156659008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40278002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248487006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189294001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835303	biolink:NamedThing			mondoexuq1wtf																														
DOID:3296	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192565006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155452000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155287003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796136	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919638	biolink:NamedThing			mondoexuq1wtf																														
DOID:11829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187215008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060484	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126583006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35169	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300501	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006983	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220448	biolink:NamedThing			mondoexuq1wtf																														
DOID:5515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195357003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566032	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1454	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264475	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000069293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238078005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724351008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027821	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267593008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111852003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105261000119101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334359	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010234	biolink:NamedThing	obsolete body length, mouse, human homolog		mondoexuq1wtf	body length, mouse, HUMAN homolog									True																				owl:Class
UMLS:C1848212	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192681009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101044	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25113000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201190003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677336	biolink:NamedThing			mondoexuq1wtf																														
DOID:11184	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703294004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206966	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619264	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278155	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398322000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197945001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1593000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271788002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73211009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367520004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268157004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289103	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN233170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564899	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:262521009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521802	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194339007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203121003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720953006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9347	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2268	biolink:NamedThing			mondoexuq1wtf																														
DOID:3504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52040006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0857812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187035003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302652	biolink:NamedThing			mondoexuq1wtf																														
DOID:6547	biolink:NamedThing			mondoexuq1wtf																														
DOID:854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151201	biolink:NamedThing			mondoexuq1wtf																														
DOID:5505	biolink:NamedThing			mondoexuq1wtf																														
DOID:1252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225362	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604250	biolink:NamedThing			mondoexuq1wtf																														
DOID:422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83172007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34458001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068032	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110367	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5475	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7678002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17790008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127073005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN696018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86249007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265706	biolink:NamedThing			mondoexuq1wtf																														
DOID:10081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838644	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199524	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535785	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018243	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42665	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718096004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286952009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265449	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92086004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333504	biolink:NamedThing			mondoexuq1wtf																														
DOID:13419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58214004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334511	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001170	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537168	biolink:NamedThing			mondoexuq1wtf																														
DOID:767	biolink:NamedThing			mondoexuq1wtf																														
DOID:1066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23876003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011407	biolink:NamedThing			mondoexuq1wtf																														
DOID:4534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189848007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276046	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022808	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:188618003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725906006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847835	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29291001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19092004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060572	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235603003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168451	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268543	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3734	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206629	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190262002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334298	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850185	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018404	biolink:NamedThing	obsolete rare genetic male infertility	Rare genetic male infertility.	mondoexuq1wtf	rare genetic male infertility			MONDO:0005372						True		UMLS:CN227349|Orphanet:399980														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0110313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154830	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609135	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269631008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113200	biolink:NamedThing			mondoexuq1wtf																														
DOID:11943	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111662	biolink:NamedThing			mondoexuq1wtf																														
DOID:342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37610005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198151009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155375008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857728	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78142009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227251	biolink:NamedThing			mondoexuq1wtf																														
DOID:9993	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254111008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269637007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8712	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453499	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264740	biolink:NamedThing			mondoexuq1wtf																														
DOID:1571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192584009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617352	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98923	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069351	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189620009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141239	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196057004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86829	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718099006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400092004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363353009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93934004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12818004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:710008008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148325	biolink:NamedThing			mondoexuq1wtf																														
DOID:6848	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601518	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2589008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410055005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085541	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845105	biolink:NamedThing			mondoexuq1wtf																														
DOID:13356	biolink:NamedThing			mondoexuq1wtf																														
DOID:11342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151864	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398273006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7839	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35062	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006504	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768663003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766051001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:425368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840387	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007761	biolink:NamedThing			mondoexuq1wtf																														
DOID:591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155773004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204138006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42183005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032046	biolink:NamedThing			mondoexuq1wtf																														
DOID:1188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404070007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721083007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188521005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155016008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192684001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267395000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720983002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849695	biolink:NamedThing			mondoexuq1wtf																														
DOID:14384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842675	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0599035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153452	biolink:NamedThing			mondoexuq1wtf																														
DOID:11693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69896004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479526	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#AMBIGUOUS	biolink:NamedThing	ambiguous		mondoexuq1wtf																														owl:AnnotationProperty
UMLS:C1834567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7440	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018501	biolink:NamedThing	obsolete rare carcinoma of stomach	Rare stomach carcinoma.	mondoexuq1wtf	rare stomach carcinoma|rare gastric carcinoma			MONDO:0004950			UMLS:C0699791			True		Orphanet:423771														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/617576	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044234	biolink:NamedThing	obsolete hrm2		mondoexuq1wtf	curly hair|hair curvature, variation 1N|HRM2|hair morphology 2					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:139450																		owl:Class
UMLS:C2697452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93276	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58648008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426768001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63247009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6118003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389272007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150691	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10055019	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008476	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:185367005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444645005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63467002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87628006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496693	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016508	biolink:NamedThing			mondoexuq1wtf																														
DOID:6083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416920000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236811002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227834	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039766	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79292	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94292003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195986009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333780	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859591	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007511	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277720	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265428	biolink:NamedThing			mondoexuq1wtf																														
DOID:366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195540001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191721002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58606001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13483000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080324	biolink:NamedThing			mondoexuq1wtf																														
DOID:3079	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4032000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346289	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607432	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61279	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:482	biolink:NamedThing			mondoexuq1wtf																														
DOID:2181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457246	biolink:NamedThing			mondoexuq1wtf																														
DOID:5632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751604	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567447	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49823009	biolink:NamedThing			mondoexuq1wtf																														
DOID:12362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19065005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40299	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720430002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155145007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186339006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699669001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15702005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14756005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363482009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198885008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192043003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231903005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8410006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128430005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3353	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411511	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267144009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189586007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398925009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609140	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110831	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27517	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608049	biolink:NamedThing			mondoexuq1wtf																														
DOID:4428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333747	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126675008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195653007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597733	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711409002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93873003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016632	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281329	biolink:NamedThing			mondoexuq1wtf																														
MESH:D064090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65880007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763895001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101362	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006964	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151311	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197072007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190742009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613318	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014522	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84827	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C141367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91855006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN842245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2680447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193630009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197540000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238746008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128664001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93466004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93771007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156282	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267460002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92206006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232063007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615980	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2776000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236467001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763067000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0004626	biolink:NamedThing	obsolete Hodgkin's paragranuloma		mondoexuq1wtf	Hodgkin paragranuloma	out of scope					MONDO:0044778			True		DOID:8642|NCIT:C26956														https://github.com/monarch-initiative/mondo/issues/3360				owl:Class
NCIT:C26956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68655008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188082007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059626	biolink:NamedThing			mondoexuq1wtf																														
DOID:13005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72047008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228960	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61253004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226092	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535514	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280200	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57044006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563716	biolink:NamedThing			mondoexuq1wtf																														
DOID:16	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342288	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269515006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805349	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1271	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044257	biolink:NamedThing	obsolete lutheran null	Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported.	mondoexuq1wtf	Lutheran null|recessive 50U (A-B-) phenotype					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:247420																		owl:Class
http://identifiers.org/omim/247420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205516007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267619000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334442	biolink:NamedThing			mondoexuq1wtf																														
DOID:8060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199522	biolink:NamedThing			mondoexuq1wtf																														
DOID:8616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80099	biolink:NamedThing			mondoexuq1wtf																														
DOID:12355	biolink:NamedThing			mondoexuq1wtf																														
DOID:5612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72277008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242137	biolink:NamedThing			mondoexuq1wtf																														
DOID:233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:116133005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280328	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196230005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268781004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026948	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90935002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1258215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13507004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94074003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610629	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182940	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35858	biolink:NamedThing			mondoexuq1wtf																														
DOID:9335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13555004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124160001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722457005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312381009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18417009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56097005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235597001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31142	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0747102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188855000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155714000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79493	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334655	biolink:NamedThing			mondoexuq1wtf																														
DOID:3596	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613523	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609283	biolink:NamedThing			mondoexuq1wtf																														
DOID:9265	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252642	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740372	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718679004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42779002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27132	biolink:NamedThing			mondoexuq1wtf																														
DOID:11235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1059007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34631	biolink:NamedThing			mondoexuq1wtf																														
DOID:4330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363427000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013733	biolink:NamedThing			mondoexuq1wtf																														
DOID:4867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77553008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268785008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722298001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110294	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129032	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274731	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110007008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192900	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89356000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835966	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702382000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126948004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613443	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364577	biolink:NamedThing			mondoexuq1wtf																														
DOID:6021	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018833	biolink:NamedThing	obsolete rare idiopathic macular telangiectasia		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN776863|Orphanet:482092														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:482092	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020423	biolink:NamedThing			mondoexuq1wtf																														
DOID:607	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2995	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070283	biolink:NamedThing			mondoexuq1wtf																														
DOID:1073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198140009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018522	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040588	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012208	biolink:NamedThing			mondoexuq1wtf																														
DOID:7350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207497	biolink:NamedThing			mondoexuq1wtf																														
DOID:13791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201432001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30171000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6915	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128360	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28724005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193394005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607554	biolink:NamedThing			mondoexuq1wtf																														
DOID:4933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795887	biolink:NamedThing			mondoexuq1wtf																														
DOID:12971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197452009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1270169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89182000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254845004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72839009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97124	biolink:NamedThing			mondoexuq1wtf																														
DOID:4267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724384008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14223005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300888	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3564	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609985	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30287008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862866	biolink:NamedThing			mondoexuq1wtf																														
DOID:2762	biolink:NamedThing			mondoexuq1wtf																														
DOID:5709	biolink:NamedThing			mondoexuq1wtf																														
DOID:166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611015	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110967	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56726003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699305004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677608	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238463	biolink:NamedThing			mondoexuq1wtf																														
DOID:12162	biolink:NamedThing			mondoexuq1wtf																														
DOID:4520	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139406	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34037000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68982002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128710005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033141	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267741008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235888006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217390	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699867001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200901	biolink:NamedThing			mondoexuq1wtf																														
DOID:5331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123050003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111475002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34971	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085074	biolink:NamedThing			mondoexuq1wtf																														
DOID:8135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17116008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266195001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52330001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62546	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152098	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270532004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12405	biolink:NamedThing			mondoexuq1wtf																														
DOID:5658	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412057	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565792	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3899	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12731000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229703009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:552	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006024	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C40109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202704007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193132000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206345004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266217003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0233705	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931516	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228415	biolink:NamedThing			mondoexuq1wtf																														
DOID:1679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719649004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398316009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254773009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606451	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562799	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724170007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720982007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422348008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32942005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017114	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061477	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100025	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52519003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126949007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34840004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:241774007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45406000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014481	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201448000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0742343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49692006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190697008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39021009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155336004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45605	biolink:NamedThing			mondoexuq1wtf																														
DOID:9538	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20425006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82346000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6644	biolink:NamedThing			mondoexuq1wtf																														
DOID:13185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189223002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38103000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57451009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2687	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002053	biolink:NamedThing	obsolete hypoglycemic coma		mondoexuq1wtf				HP:0001325						True		DOID:1607|SCTID:267384006|HP:0001325|COHD:380688|UMLS:C0020617|ICD10:E15|ICD9:251.0																		owl:Class
SNOMEDCT:71898001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567645	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58547007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266383	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616393	biolink:NamedThing			mondoexuq1wtf																														
DOID:2425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267704007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164230	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253151003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537657	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567455	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92058007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857853	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239069005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75047002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2869	biolink:NamedThing			mondoexuq1wtf																														
DOID:824	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615658	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193125009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79128	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209038	biolink:NamedThing			mondoexuq1wtf																														
DOID:14449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74469006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29740003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389146007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11057009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611694	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006525	biolink:NamedThing			mondoexuq1wtf																														
DOID:2669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306708	biolink:NamedThing			mondoexuq1wtf																														
DOID:5127	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402529002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676759	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59566000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725910009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126865007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514623	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95274002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254956000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3165028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198132003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809369	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194878003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175704	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128609009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196338001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836723	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193126005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056586	biolink:NamedThing			mondoexuq1wtf																														
DOID:12064	biolink:NamedThing			mondoexuq1wtf																														
DOID:9111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612239	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722759007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64000002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20639004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715427008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123275009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193055	biolink:NamedThing			mondoexuq1wtf																														
DOID:9877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305529	biolink:NamedThing			mondoexuq1wtf																														
DOID:6723	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196507003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64694	biolink:NamedThing			mondoexuq1wtf																														
DOID:6898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47028006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39465007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199931	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37193007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010652	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359721009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2985524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5963005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716233007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1142491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49430005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91514001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254054000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711406009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703231005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186625003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700056005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716170005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449821007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717048002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537262	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196068004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600131	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715868005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93685009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720456009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0436545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536440	biolink:NamedThing			mondoexuq1wtf																														
DOID:11263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0950112	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155666003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21186006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50621	biolink:NamedThing			mondoexuq1wtf																														
DOID:8303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838601	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34546	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266326002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607487	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268524	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029481	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2872	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039597	biolink:NamedThing			mondoexuq1wtf																														
DOID:8946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399957001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205493000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155485008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888026	biolink:NamedThing			mondoexuq1wtf																														
DOID:12306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563579	biolink:NamedThing			mondoexuq1wtf																														
DOID:5040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050993	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563781	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3622	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609328004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5827	biolink:NamedThing			mondoexuq1wtf																														
DOID:2843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614131	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52417	biolink:NamedThing			mondoexuq1wtf																														
DOID:6228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297195000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854063	biolink:NamedThing			mondoexuq1wtf																														
DOID:2148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35089	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41702007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2846	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616461	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155163	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38539003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834881	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21930005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201200004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154587007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5560	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7598	biolink:NamedThing			mondoexuq1wtf																														
DOID:200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114281	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0028737	biolink:NamedThing	obsolete biliary atresia disorder		mondoexuq1wtf		redundant					MONDO:0008867			True		HP:0005912|Orphanet:498345														https://github.com/monarch-initiative/mondo/issues/2717				owl:Class
ORPHA:498345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835912	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277196008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010249	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763792009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80936003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192863009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15284007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189851000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266188	biolink:NamedThing			mondoexuq1wtf																														
DOID:5169	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719981005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220692	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053529	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63365006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617272	biolink:NamedThing			mondoexuq1wtf																														
DOID:10656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77080005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254651007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832284	biolink:NamedThing			mondoexuq1wtf																														
DOID:981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279894	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74280008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846784	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186302005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390833005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84980006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238129003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191382009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41679006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154726004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723825006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4952	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613347	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82178003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:555407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2704	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060597	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40410	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859645	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231490005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018388	biolink:NamedThing	obsolete rare male infertility due to testicular endocrine disorder		mondoexuq1wtf		MONDO:outOfScope					ICD10:N46			True		UMLS:CN227336|Orphanet:399685														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:399685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722125003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810282	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080405	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236468006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61253	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201810	biolink:NamedThing			mondoexuq1wtf																														
DOID:318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128822004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188219004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266138002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848139	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59292006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254870004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77479002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4526657	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563695	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244927	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080482	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40136003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:14	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197421008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129930	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400008009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0862030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846922	biolink:NamedThing			mondoexuq1wtf																														
MESH:D024801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155303000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273914	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536112	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:639	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN168056	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11455007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105684008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19722001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128940004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171918	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567326	biolink:NamedThing			mondoexuq1wtf																														
DOID:7054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155503	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724069009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56468002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3082	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930961	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399319	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95214007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195863001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85076	biolink:NamedThing			mondoexuq1wtf																														
DOID:14566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609015	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111922007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834711	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618555	biolink:NamedThing			mondoexuq1wtf																														
DOID:13141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189648009	biolink:NamedThing			mondoexuq1wtf																														
DOID:7537	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240451000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29916003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867772	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070032	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79500	biolink:NamedThing			mondoexuq1wtf																														
DOID:9908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002989	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32612005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269630009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606082	biolink:NamedThing			mondoexuq1wtf																														
DOID:11299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21324001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449248000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031946	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363391009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269568000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:200418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1926006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92821006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122814	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192146008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864041	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613712	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86711009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41799005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42094007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54705	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52702003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718554005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199648007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75667007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190024009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238950006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169464	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92089006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205830006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110615	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313417009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4170004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716006003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103968	biolink:NamedThing			mondoexuq1wtf																														
DOID:14270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5516	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234580003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849792	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C146726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150399	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221054	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo/releases/2021-09-01/mondo-base.owl	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050161	biolink:NamedThing			mondoexuq1wtf																														
DOID:5692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118941004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157743	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050962	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307601000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123264005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398796005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029883	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187699005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678484	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44782008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24133009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57124002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274134003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720427009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:282124	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606640	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498602	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718210003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155872001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0864950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260800	biolink:NamedThing			mondoexuq1wtf																														
DOID:11042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155101007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267669008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564274	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399100005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535971	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82985000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673477	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:518	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39390005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254645002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0405582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613658	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50566	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68210006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014605	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203542	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537456	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048816	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002170	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22451001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C46100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38323006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516864	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254971001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003462	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187735008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074207	biolink:NamedThing			mondoexuq1wtf																														
DOID:706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238706002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266116004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612233	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81817003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175754	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020803	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9400007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403768004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13468005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562818	biolink:NamedThing			mondoexuq1wtf																														
DOID:3584	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398696001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111571009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347403	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154697005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607454	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36070007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186989008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003043	biolink:NamedThing	obsolete extraskeletal mesenchymal chondrosarcoma	A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.	mondoexuq1wtf	mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma					Obsolete in NCIT.	MONDO:0012825			True		NCIT:C27481|ICD9:171.9|SCTID:404080006|UMLS:C1275279|DOID:4548														https://github.com/monarch-initiative/mondo/issues/388				owl:Class
UMLS:C1275279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346421	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017495	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279296	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74995	biolink:NamedThing			mondoexuq1wtf																														
DOID:8012	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766755003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614226	biolink:NamedThing			mondoexuq1wtf																														
DOID:2129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361215006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601419	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612444	biolink:NamedThing			mondoexuq1wtf																														
DOID:6726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733049004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233728004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41962002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329874	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537863	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020618	biolink:NamedThing	obsolete blood group--private systems		mondoexuq1wtf	antigenic Determinants of Low Frequency in the Population|BLOOD GROUP--PRIVATE SYSTEMS									True		OMIM:111500																		owl:Class
UMLS:C1862206	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137800	biolink:NamedThing			mondoexuq1wtf																														
DOID:8177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413587002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155867005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154840005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253185002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251115003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360455002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853162	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48548006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858516	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111310003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28655007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1961835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400054000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263995	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536391	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4277	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717943008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188508003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228926	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726705007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12087	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535697	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186668002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776941	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067159	biolink:NamedThing			mondoexuq1wtf																														
DOID:13282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449784008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708749	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155728006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605026	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267587000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614861	biolink:NamedThing			mondoexuq1wtf																														
DOID:13138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN552491	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388987001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200768000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237950009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750903	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61413000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4564	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614969	biolink:NamedThing			mondoexuq1wtf																														
DOID:14422	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45688009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716091000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4016301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603592	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031345	biolink:NamedThing			mondoexuq1wtf																														
DOID:4227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265333	biolink:NamedThing			mondoexuq1wtf																														
DOID:14759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194747005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265268	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205552006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D041441	biolink:NamedThing			mondoexuq1wtf																														
DOID:3602	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:131171006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:748	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565953	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278513006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1541923	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853576	biolink:NamedThing			mondoexuq1wtf																														
DOID:13500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441815006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10509002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201442004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839982	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188307009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C110923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016064	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186086003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154399001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021422	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:C566668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56663002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34396	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267367	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415817	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN030594	biolink:NamedThing			mondoexuq1wtf																														
DOID:3646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207054	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857493	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002773	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:92422009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191347008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84717	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52813007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73328005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156849009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153642	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500548	biolink:NamedThing			mondoexuq1wtf																														
DOID:7327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87191000119100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850338	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93311	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191376006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603013	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN807949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93928006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1262481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388600004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861536	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237629002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96479	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94123008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194327004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536506	biolink:NamedThing			mondoexuq1wtf																														
DOID:8149	biolink:NamedThing			mondoexuq1wtf																														
DOID:5394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335976	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202423001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201974	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253088003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156591000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192733005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C136464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719256004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673497	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189869009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190130007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189617001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10330	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187153007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194330006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190110008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060364	biolink:NamedThing			mondoexuq1wtf																														
DOID:8681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128781004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246734002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12381007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191498001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38727009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333091	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020842	biolink:NamedThing	obsolete medullary carcinoma	Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ.	mondoexuq1wtf							MONDO:0005063|MONDO:0015277			True		NCIT:C8998																		owl:Class
NCIT:C8998	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198249000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194691004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126598008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359719004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93826009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319465	biolink:NamedThing			mondoexuq1wtf																														
NCBITaxon:9606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90038	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75003008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37657006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722282008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564757	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126997008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268341008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267438000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723556008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C156767	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89420002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256730	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155585005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204205	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036794	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049913	biolink:NamedThing			mondoexuq1wtf																														
DOID:11283	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111755	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:347	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:376	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448664009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29738008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199131000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0743110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233919006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90646	biolink:NamedThing			mondoexuq1wtf																														
DOID:5119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618454	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850101	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060292	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845343	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860821	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449052009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154979000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566109	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070043	biolink:NamedThing			mondoexuq1wtf																														
DOID:7005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1442903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79291003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119605	biolink:NamedThing			mondoexuq1wtf																														
DOID:4744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266225001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190097009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707672001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188773009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015954	biolink:NamedThing	obsolete rare genetic headache disorder		mondoexuq1wtf	rare genetic headache			MONDO:0021146						True		UMLS:CN226801|Orphanet:183509														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN226801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187358009	biolink:NamedThing			mondoexuq1wtf																														
DOID:12531	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3047	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733626002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565557	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072143	biolink:NamedThing			mondoexuq1wtf																														
DOID:3132	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202332	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:168405008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400154003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448264	biolink:NamedThing			mondoexuq1wtf																														
DOID:1909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118605002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205163	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187680001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720502000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810258	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495559	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062891	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266589005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118612006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50422007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92093000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423488006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:244938009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535425	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76376003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7998	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198462004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268763002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126679002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10005001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024473	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78097002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156628006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:706970001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34553007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720344007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194954007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50299009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253148005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044227	biolink:NamedThing	obsolete dimples, facial		mondoexuq1wtf	smiling dimples|cheek dimples|dimples, FACIAL					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:126100																		owl:Class
UMLS:C1852076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193759000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26179002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604484	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247606008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43153006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763837007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0694566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329178	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39931	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003677	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535601	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196528007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205821003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43476002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006261	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:249827008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41564009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295219	biolink:NamedThing			mondoexuq1wtf																														
DOID:409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90797	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156017008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN895590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92585006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970936	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155837	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191768007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346166	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011178	biolink:NamedThing			mondoexuq1wtf																														
DOID:12234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16410004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363415003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948368	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2424003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618907	biolink:NamedThing			mondoexuq1wtf																														
DOID:9955	biolink:NamedThing			mondoexuq1wtf																														
DOID:8704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204712000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986717	biolink:NamedThing			mondoexuq1wtf																														
DOID:2615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83420	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042111	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345055	biolink:NamedThing			mondoexuq1wtf																														
DOID:3211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125541005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006934	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10269001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:172	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280336	biolink:NamedThing			mondoexuq1wtf																														
DOID:10149	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8396	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008382	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206746	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270883006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2874	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127041004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79178	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46871008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74881002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363460002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84668	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721194008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34714	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:285014	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563854	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52353000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191239005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121932	biolink:NamedThing			mondoexuq1wtf																														
DOID:14325	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156085008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312682007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85983004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7441009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129128006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304963	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0872084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268124001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17111003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25906001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68202005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300847	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27447	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608569	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007778	biolink:NamedThing	obsolete hypertelorism	A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism).	mondoexuq1wtf	obsolete hypertelorism (disease)|hypertelorism of orbit|hypertelorism		obsolete hypertelorism (disease)			Hypertelorism is a phenotypic feature.	HP:0000316			True		OMIM:145400|ICD9:376.41|SCTID:22006008|HP:0000316|NCIT:C34715|MESH:D006972														https://github.com/monarch-initiative/mondo/issues/1574				owl:Class
SNOMEDCT:22006008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2007059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1322286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1955861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90207007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397379005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191356000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129179000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042166	biolink:NamedThing			mondoexuq1wtf																														
DOID:3558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156047	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111865007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314542007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C571912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1416630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565485	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80394007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28055006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19362000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372140005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510302	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C161005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402477000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269523008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035854	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155080009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339285	biolink:NamedThing			mondoexuq1wtf																														
DOID:3919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197901001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196277000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154444006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90793	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30250000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193175006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28574005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234577004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205136002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567771	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195199008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68334	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87433001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38837006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233642001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012715	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723503006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232364006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719520001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859710	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110024	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020757	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63517006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494344	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719161008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN570502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155618005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269640007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254738007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363448003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197352008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417441005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476102	biolink:NamedThing			mondoexuq1wtf																														
DOID:3024	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050813	biolink:NamedThing			mondoexuq1wtf																														
DOID:10322	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535737	biolink:NamedThing			mondoexuq1wtf																														
DOID:12358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71708001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17941002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251189000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156579009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566908	biolink:NamedThing			mondoexuq1wtf																														
DOID:8787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086543	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373945007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242161	biolink:NamedThing			mondoexuq1wtf																														
DOID:3388	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270871	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002806	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345905	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1739395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91273001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393567008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333321	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1423873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1798	biolink:NamedThing			mondoexuq1wtf																														
MESH:C573023	biolink:NamedThing			mondoexuq1wtf																														
DOID:7401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134300001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618839	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029442	biolink:NamedThing			mondoexuq1wtf																														
DOID:3306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84806	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194313009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92617001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733418003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521390	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42601008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253103006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43647007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44865000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280887	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969783	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110982	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833454	biolink:NamedThing			mondoexuq1wtf																														
DOID:9266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0580181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861863	biolink:NamedThing			mondoexuq1wtf																														
DOID:14253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333746	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861172	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197990005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035468	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1313983	biolink:NamedThing			mondoexuq1wtf																														
DOID:1470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206780	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206479002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3398004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128651002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205691005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18526009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155524006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432160	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128769003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200780008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5741	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86487001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111963	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68905002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859711	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542301	biolink:NamedThing			mondoexuq1wtf																														
DOID:4424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763275001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90787	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733608000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187964009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2211494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206272	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363205007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837730	biolink:NamedThing			mondoexuq1wtf																														
DOID:10207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65049003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274732	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764097002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98033	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618310	biolink:NamedThing			mondoexuq1wtf																														
DOID:9502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676772	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191216004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346026	biolink:NamedThing			mondoexuq1wtf																														
DOID:6345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79574003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189656007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154365004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4839005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198254009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609402	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93132001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153643	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011813	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51445007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855925	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536261	biolink:NamedThing			mondoexuq1wtf																														
DOID:2782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277791008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001752	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110146	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30419000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123907	biolink:NamedThing			mondoexuq1wtf																														
DOID:10881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332866	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128188000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194049000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60389000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618379	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720855003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390723008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457375	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564714	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198201006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931195	biolink:NamedThing			mondoexuq1wtf																														
DOID:5701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386080007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162838	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36222008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615996	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196307002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201624004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195794009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3696376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132101	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237816004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68266006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15960008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C158329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294973	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763374004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19995004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240626005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839022	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155066002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195889001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197505001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4468	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267477002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54954004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226623	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4793	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563785	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203387	biolink:NamedThing			mondoexuq1wtf																														
DOID:4439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221145	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113477	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264239	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280766	biolink:NamedThing			mondoexuq1wtf																														
DOID:906	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763772002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230672006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154390002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864663	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850141	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000347	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#EXCLUDE	biolink:NamedThing	Synonym to be removed from public release but maintained in edit version as record of external usage		mondoexuq1wtf																														owl:AnnotationProperty
SNOMEDCT:155013000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122797	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189685001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605130	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254766004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17322007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196527002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:450919004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7175	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300706003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1258034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206435	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118945008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60625000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0563625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266583006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851475	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715631005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254837009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237921002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262687	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062689	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310726	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225398	biolink:NamedThing			mondoexuq1wtf																														
DOID:699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844579	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193126	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196269004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:599	biolink:NamedThing			mondoexuq1wtf																														
DOID:3330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190140005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150925	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029899	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40987004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4075997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193288000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192487000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000788	biolink:NamedThing	obsolete fish allergy	A allergy involving fish.	mondoexuq1wtf	fish food product allergic disease|allergy of fish food product	MONDO:outOfScope								True		DOID:0060513														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060513	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268323	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535591	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016890	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64742	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535917	biolink:NamedThing			mondoexuq1wtf																														
DOID:13676	biolink:NamedThing			mondoexuq1wtf																														
DOID:363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152443	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040422	biolink:NamedThing			mondoexuq1wtf																														
DOID:446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68067009	biolink:NamedThing			mondoexuq1wtf																														
DOID:10615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617762	biolink:NamedThing			mondoexuq1wtf																														
DOID:4011	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023070	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:C536864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416163003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C18252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197442005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377915	biolink:NamedThing			mondoexuq1wtf																														
DOID:4486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:617	biolink:NamedThing			mondoexuq1wtf																														
DOID:5694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237945003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86292002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765216006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268332003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1313885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9243	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95457000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334522	biolink:NamedThing			mondoexuq1wtf																														
DOID:5750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112096004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234097001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68659002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C52595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715867000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331187	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041329	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267570002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267810004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190505004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763460007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34772	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319667	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75544000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716105001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1509148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715866009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404580	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014685	biolink:NamedThing			mondoexuq1wtf																														
DOID:7533	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536080	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004769	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014353	biolink:NamedThing			mondoexuq1wtf																														
DOID:13490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157120005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307599002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61523007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444133002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188155002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83316	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605375	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2688	biolink:NamedThing			mondoexuq1wtf																														
DOID:5843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564425	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C29888	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90282004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154852003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191764009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194353007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496842	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718603002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015896	biolink:NamedThing	obsolete rare hypoparathyroidism	Rare hypoparathyroidism.	mondoexuq1wtf	rare hypoparathyroidism			MONDO:0001220			ICD10:E20.9|ICD10:E20.0|UMLS:C0020626|ICD10:E20.1|ICD10:E20.8			True		Orphanet:181405														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:181405	biolink:NamedThing			mondoexuq1wtf																														
MESH:D024821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930952	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88822006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612923	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89880005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23238000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199580004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251529	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562974	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151853	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195733000	biolink:NamedThing			mondoexuq1wtf																														
DOID:12895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189680006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225319	biolink:NamedThing			mondoexuq1wtf																														
DOID:8200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408537003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203490000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025552	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617222	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32219008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031925	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402023	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190818004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845104	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137631	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4548	biolink:NamedThing			mondoexuq1wtf																														
DOID:8042	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188542007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85444005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020802	biolink:NamedThing			mondoexuq1wtf																														
DOID:4757	biolink:NamedThing			mondoexuq1wtf																														
DOID:9597	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404058008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4747394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269921	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31487001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449731009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334500	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312929003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156292006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006229	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5371001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196121006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193016000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99948	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613411	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718914002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127227003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014777	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84671	biolink:NamedThing			mondoexuq1wtf																														
DOID:10480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156721007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266555009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839822	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001906	biolink:NamedThing			mondoexuq1wtf																														
DOID:9849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195040005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013964	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188475001	biolink:NamedThing			mondoexuq1wtf																														
DOID:9736	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1535893	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:434809	biolink:NamedThing			mondoexuq1wtf																														
DOID:14445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60938005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234350007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000753	biolink:NamedThing			mondoexuq1wtf																														
DOID:5162	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34795	biolink:NamedThing			mondoexuq1wtf																														
DOID:2809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200775004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:780	biolink:NamedThing			mondoexuq1wtf																														
DOID:3304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844865	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275998	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617168	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039142	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254703005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062026	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004646	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007641	biolink:NamedThing	obsolete Futcher line		mondoexuq1wtf	Voigt lines|Futcher line|pigmentary demarcation lines					This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated.				True		OMIM:137000														https://github.com/monarch-initiative/mondo/issues/2148				owl:Class
UMLS:C1850937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84389	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835192	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34412	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565717	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832567	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74911008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865872	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70646	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618272	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564877	biolink:NamedThing			mondoexuq1wtf																														
DOID:12802	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1304004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264555006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610424	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050198	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060351	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601803	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516423	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267600005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266612003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715807002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237965005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92681005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192394003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866424	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723499000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268479	biolink:NamedThing			mondoexuq1wtf																														
DOID:1700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307596009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156063002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53316003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618241	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191706008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1106	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153598	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187637005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247065006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39058009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702376003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865616	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001139	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87224000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2104	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878654	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157991	biolink:NamedThing			mondoexuq1wtf																														
DOID:14248	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186733005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363385007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93388	biolink:NamedThing			mondoexuq1wtf																														
DOID:14183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16644004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51105006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766978002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28710006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85388002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339904	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001201	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:155509002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537849	biolink:NamedThing			mondoexuq1wtf																														
DOID:13628	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77653004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715484003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51510002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234961008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237671	biolink:NamedThing			mondoexuq1wtf																														
DOID:2297	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719408007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254855000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194120005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005156	biolink:NamedThing			mondoexuq1wtf																														
DOID:10844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414025	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92069005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722493007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268282005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111246005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68072000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389996009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49292002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424936	biolink:NamedThing			mondoexuq1wtf																														
DOID:11624	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005918	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014133	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27758	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39912006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986658	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060121	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79369	biolink:NamedThing			mondoexuq1wtf																														
DOID:11839	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016393	biolink:NamedThing			mondoexuq1wtf																														
DOID:1229	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95656000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2462	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563633	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202652006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204436002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197796005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562298	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7994	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60041	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195914001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614039	biolink:NamedThing			mondoexuq1wtf																														
DOID:4386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014247	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238344	biolink:NamedThing			mondoexuq1wtf																														
DOID:9537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725908007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565112	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838781	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734028007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2624008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42812006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855626	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231924000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719825000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82837002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:144515004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46635009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015467	biolink:NamedThing			mondoexuq1wtf																														
DOID:8929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:400025	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564084	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267392	biolink:NamedThing			mondoexuq1wtf																														
DOID:1975	biolink:NamedThing			mondoexuq1wtf																														
DOID:8443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156323008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853757	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110660	biolink:NamedThing			mondoexuq1wtf																														
DOID:9978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134215002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111468003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187777008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254146000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124853	biolink:NamedThing			mondoexuq1wtf																														
DOID:707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76107001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232326009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10673008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023072	biolink:NamedThing	obsolete envenomization by Bothrops lanceolatus		mondoexuq1wtf	Envenomization by the Martinique lancehead viper									True		GARD:0002131|Orphanet:1939														https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus				owl:Class
DOID:14447	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156633005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284385	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156328004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154788000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333420	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118617000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45161	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862892	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931135	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536224	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8428	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848901	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56627002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155771002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204966004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95794005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0747273	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153196	biolink:NamedThing			mondoexuq1wtf																														
DOID:3609	biolink:NamedThing			mondoexuq1wtf																														
DOID:163	biolink:NamedThing			mondoexuq1wtf																														
DOID:7501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253176002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035484	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24654003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81573002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46701001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123254001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267851002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228318	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012512	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6283	biolink:NamedThing			mondoexuq1wtf																														
DOID:14456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721093000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832680	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C157781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215105	biolink:NamedThing			mondoexuq1wtf																														
DOID:9726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225293	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268103006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171706	biolink:NamedThing			mondoexuq1wtf																														
DOID:5386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0683303	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018939	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261857	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109383000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78642008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84999002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3840102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435561	biolink:NamedThing			mondoexuq1wtf																														
DOID:5276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363378008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190150006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265863	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618915	biolink:NamedThing			mondoexuq1wtf																														
DOID:12359	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347098	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536324	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255096006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187510004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371160000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7132	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4011	biolink:NamedThing			mondoexuq1wtf																														
DOID:5134	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417672002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607801	biolink:NamedThing			mondoexuq1wtf																														
DOID:6048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94121005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217629	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226905	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280315	biolink:NamedThing			mondoexuq1wtf																														
DOID:10919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332990	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090070	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421455009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193037	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1690006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269505000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269641006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162423	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253053003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2736	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196125002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14494009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154770008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263726	biolink:NamedThing			mondoexuq1wtf																														
DOID:7586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62335009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146600	biolink:NamedThing			mondoexuq1wtf																														
DOID:890	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0012424	biolink:NamedThing	obsolete heat-shock RNA 1		mondoexuq1wtf	heat-shock RNA 1|Hsr1|heat-shock RNA type 1					This is a gene, not a disease.				True		OMIM:610157														https://github.com/monarch-initiative/mondo/issues/1452				owl:Class
UMLS:C1857801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111479008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715825009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733091002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63608001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79698	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423709000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16685009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5158005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15847003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009135	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35305	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567863	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028197	biolink:NamedThing			mondoexuq1wtf																														
DOID:11032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48236007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:401315004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75018	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611722	biolink:NamedThing			mondoexuq1wtf																														
DOID:8677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94006002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97562	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128210009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877015	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238626006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128839002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27421	biolink:NamedThing			mondoexuq1wtf																														
DOID:14090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34961	biolink:NamedThing			mondoexuq1wtf																														
DOID:4050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565842	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805410	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068715	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565429	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39640004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83911000119104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203673	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88580009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198989003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128919000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230757	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080311	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110985001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126857009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239910001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38961000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70736000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251858	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109987008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13809	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397188008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514199	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:527497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200915000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074265	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193934003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765330003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3855007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004832	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566984	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715985008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002878	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187743003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566801	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563394	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404053004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259600	biolink:NamedThing			mondoexuq1wtf																														
DOID:9600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/424500	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020242	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266484002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2737	biolink:NamedThing			mondoexuq1wtf																														
DOID:5998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95592006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715668008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240193006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006970	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536817	biolink:NamedThing			mondoexuq1wtf																														
DOID:6037	biolink:NamedThing			mondoexuq1wtf																														
DOID:12304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23288008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42369001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16949007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C86969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95704002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156934002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52824009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396230008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40275004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274145000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253187005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109494000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766246000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004834	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187817008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238159	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400130008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304725	biolink:NamedThing			mondoexuq1wtf																														
DOID:13953	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319581	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111403	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234540007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:599376	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616361	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:218436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35432	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62964007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154395007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231934009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721225009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615285	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008074	biolink:NamedThing	obsolete nerve growth factor, alpha subunit		mondoexuq1wtf	nerve growth factor, ALPHA SUBUNIT|NGFA|nerve growth factor, alpha subunit	out of scope								True		OMIM:162020														https://github.com/monarch-initiative/mondo/issues/3358				owl:Class
UMLS:C0752316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68237008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2030	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111259	biolink:NamedThing			mondoexuq1wtf																														
DOID:7173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9001003	biolink:NamedThing			mondoexuq1wtf																														
DOID:8494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45655	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34558	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2911	biolink:NamedThing			mondoexuq1wtf																														
DOID:14457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155038005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3796	biolink:NamedThing			mondoexuq1wtf																														
DOID:589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050928	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371089000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190451000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198048004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205631008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080455	biolink:NamedThing			mondoexuq1wtf																														
DOID:2853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171848	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605814	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175999	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189808004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206549	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837434	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237559000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676023	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93971002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10652	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204942005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62110005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21926007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297257004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193084	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3147	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068240	biolink:NamedThing			mondoexuq1wtf																														
DOID:11812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237857006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2212024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67830002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28670008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7527	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46981006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19726003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191750009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848204	biolink:NamedThing			mondoexuq1wtf																														
DOID:9463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92816008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765434008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085131	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156177	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333764	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2699838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237425	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84978	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516865	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14118000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187227006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:243683001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051938	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003285	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536847	biolink:NamedThing			mondoexuq1wtf																														
DOID:1394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0947786	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93994001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126790004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155963008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77358003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294996	biolink:NamedThing			mondoexuq1wtf																														
DOID:602	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226961	biolink:NamedThing			mondoexuq1wtf																														
DOID:5478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565153	biolink:NamedThing			mondoexuq1wtf																														
DOID:5350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72274001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1378511	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221409	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021436	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0345217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197414008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123953004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20165001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1408	biolink:NamedThing			mondoexuq1wtf																														
DOID:10532	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276198	biolink:NamedThing			mondoexuq1wtf																														
DOID:11747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206987006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126676009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085261	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007418	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240672009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270724	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190849009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277155005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020189	biolink:NamedThing	obsolete eyebrow/eyelashes structural anomaly		mondoexuq1wtf							HP:0000499|HP:0000534			True		Orphanet:98599														https://github.com/monarch-initiative/mondo/issues/1501				owl:Class
http://identifiers.org/omim/133100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289290	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230318005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11871002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8722008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014962	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810242	biolink:NamedThing			mondoexuq1wtf																														
DOID:13146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267733008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763062006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717183001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2621	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7847004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281106	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300915004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416529009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715752006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234575007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709412006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307406004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1933	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261344	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1297	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238777005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280443	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2084	biolink:NamedThing			mondoexuq1wtf																														
DOID:1037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274233	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155810001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848815	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55991001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191284007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717940006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302712	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707796002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411536	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2227007	biolink:NamedThing			mondoexuq1wtf																														
DOID:9842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039373	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403281007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81598001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267688001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307343001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255059002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155181005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412189	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155278007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275619	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600628	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN570506	biolink:NamedThing			mondoexuq1wtf																														
DOID:8498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206599	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207671002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005196	biolink:NamedThing	obsolete teratozoospermia	Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends	mondoexuq1wtf						This is a finding.	HP:0012864			True		MP:0005578|SCTID:236817003|UMLS:C0403824|EFO:0002625														https://github.com/monarch-initiative/mondo/issues/1786				owl:Class
SNOMEDCT:236817003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004774	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203512007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848814	biolink:NamedThing			mondoexuq1wtf																														
DOID:7232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266534007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854311	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111125	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085073	biolink:NamedThing			mondoexuq1wtf																														
DOID:13473	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270504008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600273	biolink:NamedThing			mondoexuq1wtf																														
DOID:4253	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563665	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93944002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189199003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:704166007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83586000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0200001	biolink:NamedThing	obsolete chromate resistance		mondoexuq1wtf	CHR|CHROMATE RESISTANCE									True		OMIM:118840																		owl:Class
UMLS:C1861559	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042907	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98482	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135841	biolink:NamedThing			mondoexuq1wtf																														
DOID:14018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4473006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732948003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34582	biolink:NamedThing			mondoexuq1wtf																														
DOID:2570	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263435	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4135001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38591003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230394006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616038	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5906000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4969	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842836	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603383	biolink:NamedThing			mondoexuq1wtf																														
DOID:4839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN847586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154892	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110187	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3644	biolink:NamedThing			mondoexuq1wtf																														
DOID:8578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403914000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85522003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018730	biolink:NamedThing	obsolete rare genetic venous malformation	An instance of rare venous malformation that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic rare venous malformation	MONDO:outOfScope								True		UMLS:CN241790|Orphanet:459548														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
SNOMEDCT:69092001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55133004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67795000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608390	biolink:NamedThing			mondoexuq1wtf																														
DOID:14245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030424	biolink:NamedThing			mondoexuq1wtf																														
DOID:2732	biolink:NamedThing			mondoexuq1wtf																														
DOID:9856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155121008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197592009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722454003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14662005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715462003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167030	biolink:NamedThing			mondoexuq1wtf																														
DOID:4044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126705004	biolink:NamedThing			mondoexuq1wtf																														
DOID:9268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936861	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010437	biolink:NamedThing			mondoexuq1wtf																														
DOID:9283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723439002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11105	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613845	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707442002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1138434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204335	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608687	biolink:NamedThing			mondoexuq1wtf																														
DOID:9828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22905009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402410006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888308	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565706	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59753003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720856002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836255	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111236	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201371	biolink:NamedThing			mondoexuq1wtf																														
DOID:2214	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536164	biolink:NamedThing			mondoexuq1wtf																														
DOID:7241	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268831004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543697	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39771000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266150008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201171	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265514	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2243051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189444004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195580005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748941	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36169	biolink:NamedThing			mondoexuq1wtf																														
DOID:6043	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020734	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615846	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609071	biolink:NamedThing			mondoexuq1wtf																														
DOID:14262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93925	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127070008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1496	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312823001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156073	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006934	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
MESH:D011317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5613003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367367004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155162002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:58017	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007971	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003444	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85478004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617526	biolink:NamedThing			mondoexuq1wtf																														
DOID:7538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188762002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795805	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28399005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40190	biolink:NamedThing			mondoexuq1wtf																														
DOID:10835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34004002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193620000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4512018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206430005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539714	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047716	biolink:NamedThing			mondoexuq1wtf																														
DOID:10481	biolink:NamedThing			mondoexuq1wtf																														
DOID:8866	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110781	biolink:NamedThing			mondoexuq1wtf																														
DOID:9553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1857005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724063005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4021133	biolink:NamedThing			mondoexuq1wtf																														
DOID:4441	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267873009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809672	biolink:NamedThing			mondoexuq1wtf																														
DOID:1920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254267009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537108	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111540	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37200009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93823001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414521009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722063009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615327	biolink:NamedThing			mondoexuq1wtf																														
DOID:256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155861006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19453003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3891	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93548	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268734000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39576	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200450	biolink:NamedThing			mondoexuq1wtf																														
DOID:4351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49434001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722488009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188240003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90448008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733088002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014890	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/550500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155360000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2063873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403468003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128123007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716655008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:116371000119107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89723004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34476008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619229	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018923	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6458	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191760000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554247	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154526001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188498009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010014	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111745	biolink:NamedThing			mondoexuq1wtf																														
DOID:11482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193033	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277530005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206939	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837073	biolink:NamedThing			mondoexuq1wtf																														
DOID:11198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715422002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26682008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190783007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707625001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001430	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201098008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:167781002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205539	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723828008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716700003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718180000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343939	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548012	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015212	biolink:NamedThing			mondoexuq1wtf																														
DOID:7840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77225009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236076004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267073	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4331858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100076	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70428	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3241961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615272	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274700	biolink:NamedThing			mondoexuq1wtf																														
DOID:255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265998	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196974002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110220	biolink:NamedThing			mondoexuq1wtf																														
DOID:11786	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608805	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750893	biolink:NamedThing			mondoexuq1wtf																														
DOID:5113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857276	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449566	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190181002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111248	biolink:NamedThing			mondoexuq1wtf																														
DOID:13781	biolink:NamedThing			mondoexuq1wtf																														
DOID:1725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255072001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765756007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617025	biolink:NamedThing			mondoexuq1wtf																														
DOID:74	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080183	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567453	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93727008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194160006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205505000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196071007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87380008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7522008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268262006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020612	biolink:NamedThing	obsolete blood group, kidd system		mondoexuq1wtf	JK|Kidd Blood Group System|BLOOD GROUP, KIDD SYSTEM									True		OMIM:111000																		owl:Class
UMLS:C0022645	biolink:NamedThing			mondoexuq1wtf																														
DOID:5565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1696109	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708781	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867981	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229112	biolink:NamedThing			mondoexuq1wtf																														
DOID:5675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751884	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254848002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:337	biolink:NamedThing			mondoexuq1wtf																														
DOID:5926	biolink:NamedThing			mondoexuq1wtf																														
DOID:2283	biolink:NamedThing			mondoexuq1wtf																														
DOID:3044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN924920	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367542003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63479002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255020006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23853001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677550	biolink:NamedThing			mondoexuq1wtf																														
DOID:1616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763315005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389983008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857333	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76011009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766751007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725057008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764466009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230773005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18504008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554056	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608814	biolink:NamedThing			mondoexuq1wtf																														
DOID:1115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0362046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763771009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027155	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:19	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841622	biolink:NamedThing			mondoexuq1wtf																														
DOID:13374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127018007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15739006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67383002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63302006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931047	biolink:NamedThing			mondoexuq1wtf																														
DOID:4277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190062007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617304	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011120	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410041002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335574	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080566	biolink:NamedThing			mondoexuq1wtf																														
DOID:1965	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610381	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253273004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118436	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702326000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600327	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263501	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610498	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29159009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155874000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397758007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763796007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345218	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35809	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110385	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567510	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98253	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28596004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240620004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74928006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50127006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970028	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15771004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93970001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51244008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231871007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109471001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715535009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111785	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194309002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118940003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563421	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194477000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612943	biolink:NamedThing			mondoexuq1wtf																														
DOID:275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14748007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1691020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607834	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721816008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403986008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110102	biolink:NamedThing			mondoexuq1wtf																														
DOID:10631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94087009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272399	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192965001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254575004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187272003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614035	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027073	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81896006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78975002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242420	biolink:NamedThing			mondoexuq1wtf																														
DOID:4594	biolink:NamedThing			mondoexuq1wtf																														
DOID:3868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390746005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721845005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266641007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88108008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204521	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5101009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155448	biolink:NamedThing			mondoexuq1wtf																														
DOID:9977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034359	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187385002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080323	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98968	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4413	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717155003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439361000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126635000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340038	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615591	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563858	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74320008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398036000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187023002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615963	biolink:NamedThing			mondoexuq1wtf																														
DOID:60003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230744007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20850004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852513	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763839005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93968005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155862004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202954	biolink:NamedThing			mondoexuq1wtf																														
DOID:13891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128909006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156014001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35103004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3458	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345611	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206702	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27455	biolink:NamedThing			mondoexuq1wtf																														
DOID:5002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846130	biolink:NamedThing			mondoexuq1wtf																														
DOID:6364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21912003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237508	biolink:NamedThing			mondoexuq1wtf																														
DOID:10041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266397004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182214	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188203006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82236004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403805009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37616004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194631001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126833009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66651005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71186008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060881	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128045006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87605005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266275004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271375	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718611007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71529	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126491004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060892	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69078	biolink:NamedThing			mondoexuq1wtf																														
DOID:10927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264930	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535676	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186122001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418632009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616039	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060209	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080089	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207196	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496641	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006124	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:35339003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22033007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500533	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564802	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397623	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166472	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3900122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194977007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73506006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308689002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186299005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37193	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235919008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016116	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719513008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116345	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6963	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242310	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080485	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332493	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060755	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335146	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244924	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279716	biolink:NamedThing			mondoexuq1wtf																														
DOID:5593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719599008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155072002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396351009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313307000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763793004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855477	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82058009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186320001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155008004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726609005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:957	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50548001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154769007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417075004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53333005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193397003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195375002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2053820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43369006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190543001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5488	biolink:NamedThing			mondoexuq1wtf																														
DOID:9398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320391	biolink:NamedThing			mondoexuq1wtf																														
DOID:3227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126670003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833245	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN187052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134031000119108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN461628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4053506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39726008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197126006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270531006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839264	biolink:NamedThing			mondoexuq1wtf																														
DOID:2879	biolink:NamedThing			mondoexuq1wtf																														
DOID:679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193843006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335521	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274933	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003231	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155037000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418818005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307010	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196315004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402881008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111313001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93978008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266386004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608553	biolink:NamedThing			mondoexuq1wtf																														
DOID:2384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236381000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333097	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231462006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250932	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5262007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931421	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404086000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305276	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610319	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060365	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600060	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080406	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677865	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720756005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN818987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84830	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275654	biolink:NamedThing			mondoexuq1wtf																														
IAO:0000423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763213001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237783	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613017	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:596448	biolink:NamedThing			mondoexuq1wtf																														
DOID:2914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:998008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528084	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81359005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294060	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:217710005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48113006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95276000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266629000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302874002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539942	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619112	biolink:NamedThing			mondoexuq1wtf																														
DOID:4988	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80444	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600791	biolink:NamedThing			mondoexuq1wtf																														
DOID:13575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154380005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80843008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279392	biolink:NamedThing			mondoexuq1wtf																														
DOID:2952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:431371000124105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188747004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/551000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268357	biolink:NamedThing			mondoexuq1wtf																														
DOID:10348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70738004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:738527001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266496009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193978007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0055595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217500	biolink:NamedThing			mondoexuq1wtf																														
DOID:1713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423158009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267703001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254832003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95830009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264554005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59021001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764457005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720815000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003147	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238685008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203735	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1996945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2960633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1492	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45227007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606777	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17788007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016664	biolink:NamedThing			mondoexuq1wtf																														
DOID:13654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749033	biolink:NamedThing			mondoexuq1wtf																														
DOID:971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861447	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190954001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105648001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126798006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765045003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700058006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54292009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279843	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016233	biolink:NamedThing	obsolete rare lymphatic system malformation		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN200997|Orphanet:211255														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C4919	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719835006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541994	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254767	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92029009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618868	biolink:NamedThing			mondoexuq1wtf																														
DOID:3857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237752	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1449	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35645	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007829	biolink:NamedThing			mondoexuq1wtf																														
DOID:501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270881008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81077008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608807	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398254007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002581	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29260007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716336002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836673	biolink:NamedThing			mondoexuq1wtf																														
DOID:2972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537768	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13048006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708090002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53652	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3698541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3025	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268624	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277571004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54556006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267888004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186413007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836899	biolink:NamedThing			mondoexuq1wtf																														
DOID:13147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681855	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75462	biolink:NamedThing			mondoexuq1wtf																														
DOID:5166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4684	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039281	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314777	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056807	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010022	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427617000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601957	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724350009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3498	biolink:NamedThing			mondoexuq1wtf																														
DOID:5253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226833	biolink:NamedThing			mondoexuq1wtf																														
DOID:9869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018225	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535900	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68225006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008607	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536199	biolink:NamedThing			mondoexuq1wtf																														
DOID:11320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193869000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410013001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187744009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154938001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849718	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259680	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232333009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156451000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:244242	biolink:NamedThing			mondoexuq1wtf																														
DOID:660	biolink:NamedThing			mondoexuq1wtf																														
DOID:3617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703286006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92321003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4983	biolink:NamedThing			mondoexuq1wtf																														
DOID:4926	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1647	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566361	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417996009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848199	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110917	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192998006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849566	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217085	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012595	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35247001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370890	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535620	biolink:NamedThing			mondoexuq1wtf																														
DOID:715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392049002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202344	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11442006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605275	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137658	biolink:NamedThing			mondoexuq1wtf																														
DOID:3055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333475	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187547004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49984004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155241	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9015	biolink:NamedThing			mondoexuq1wtf																														
DOID:4202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195057009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47434006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137593	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78623009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0887846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257100	biolink:NamedThing			mondoexuq1wtf																														
DOID:5696	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050338	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1915	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563117	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45020000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060479	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444545003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019196	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714927	biolink:NamedThing			mondoexuq1wtf																														
DOID:1896	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111188	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110228	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261483	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278622	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2137	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020784	biolink:NamedThing	obsolete short sleep, familial natural, 1		mondoexuq1wtf	FNSS1|Short Sleep Phenotype|SHORT SLEEP, FAMILIAL NATURAL, 1									True		OMIM:612975																		owl:Class
http://identifiers.org/omim/612975	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012592	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003597	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0110673	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36607007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426336007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66081003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601675	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1133	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535281	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42088	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404073009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70461003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007635	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563817	biolink:NamedThing			mondoexuq1wtf																														
DOID:3686	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186605002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227990	biolink:NamedThing			mondoexuq1wtf																														
DOID:5154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN404275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764859001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55818009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:570491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511190	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87194000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232341009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246784009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187411002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0857305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83351003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26168007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92412003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75702008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398723007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796159	biolink:NamedThing			mondoexuq1wtf																														
DOID:3437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716997004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189946005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111541001	biolink:NamedThing			mondoexuq1wtf																														
DOID:9893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204208	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751434	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275598004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276200006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2746069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:179	biolink:NamedThing			mondoexuq1wtf																														
DOID:11312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98878	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266536009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616265	biolink:NamedThing			mondoexuq1wtf																														
DOID:2072	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193485000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863416	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834880	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82649003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015423	biolink:NamedThing			mondoexuq1wtf																														
DOID:5908	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189813000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684358	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536604	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006322	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363383000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33573	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536436	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139299007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50442003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054044	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005310	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92814006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:179006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4330050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334261	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537940	biolink:NamedThing			mondoexuq1wtf																														
DOID:5715	biolink:NamedThing			mondoexuq1wtf																														
DOID:2365	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537746	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94379	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1619692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1331541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:478029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939174	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156646000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389165004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135189	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400962005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79041005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196038008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2004576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4512053	biolink:NamedThing			mondoexuq1wtf																														
DOID:876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128715000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931376	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110602	biolink:NamedThing			mondoexuq1wtf																														
DOID:7971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0159006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715524004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49863005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:29073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN882908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036631	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937231	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95588004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270860	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567079	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155750007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832378	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887949	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90354	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237722004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808986	biolink:NamedThing			mondoexuq1wtf																														
DOID:5527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192892008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19429009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42153001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86073008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15250008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155134009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82562007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763346009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190509005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536444	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26890	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851479	biolink:NamedThing			mondoexuq1wtf																														
DOID:5884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266346007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1381	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2703042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93153005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155076	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563839	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34337008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:10	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155442004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564522	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013168	biolink:NamedThing			mondoexuq1wtf																														
DOID:12570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201382	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840373	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535590	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3611	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019308	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536900	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044264	biolink:NamedThing	obsolete radial loop, plain, on right index finger		mondoexuq1wtf	radial loop, plain, ON right index finger					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:312200																		owl:Class
http://identifiers.org/omim/312200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734024009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:735907005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76407009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190801003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73221001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3640999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237748	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94360	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034880	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010845	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193097	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123782009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443487006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48627	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618531	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194707003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:579	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196466008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850510	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189811003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26843008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702809001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155817	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080196	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206365	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1899006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265281	biolink:NamedThing			mondoexuq1wtf																														
DOID:11330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66259004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199638	biolink:NamedThing			mondoexuq1wtf																														
DOID:1510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23501004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72523005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702323008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199582	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111633	biolink:NamedThing			mondoexuq1wtf																														
DOID:295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442917000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4129	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006842	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616973	biolink:NamedThing			mondoexuq1wtf																														
DOID:11030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400031009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196704007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267684004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008172	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156165	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154283005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012019	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012515	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31007005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610688	biolink:NamedThing			mondoexuq1wtf																														
DOID:9357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52585001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7399	biolink:NamedThing			mondoexuq1wtf																														
DOID:332	biolink:NamedThing			mondoexuq1wtf																														
DOID:3873	biolink:NamedThing			mondoexuq1wtf																														
DOID:2226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567437	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553449	biolink:NamedThing			mondoexuq1wtf																														
DOID:13714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548074	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5753	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226125	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565161	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37214	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319325	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021202	biolink:NamedThing			mondoexuq1wtf																														
DOID:3741	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2826783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27405005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719165004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128745002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535942	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87074006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267612009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726608002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238401006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94003005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154896	biolink:NamedThing			mondoexuq1wtf																														
DOID:12732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49084001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734045002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193941009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69163003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:290653008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392291006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125702	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85214	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95432	biolink:NamedThing			mondoexuq1wtf																														
DOID:2959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78572006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276818002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675483	biolink:NamedThing			mondoexuq1wtf																														
DOID:11282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917713	biolink:NamedThing			mondoexuq1wtf																														
DOID:913	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717050005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733115009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718124006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446079007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711794	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4601	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:104831000119109	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179840	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100032	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020260	biolink:NamedThing	obsolete myasthenic syndrome with eye involvement		mondoexuq1wtf						See https://github.com/Orphanet/ORDO/issues/17				True		Orphanet:98690|UMLS:CN207074																		owl:Class
UMLS:CN207074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400144002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228227	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202882003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192165000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69741000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188154003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237596009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68216000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034194	biolink:NamedThing			mondoexuq1wtf																														
DOID:13689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393559	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310689	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612423	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012480	biolink:NamedThing			mondoexuq1wtf																														
DOID:4907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842031	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050569	biolink:NamedThing			mondoexuq1wtf																														
DOID:9700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255004001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154707007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32598000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400038003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47054003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11293004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110886	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4048705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341109	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673964	biolink:NamedThing			mondoexuq1wtf																														
DOID:9988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016460	biolink:NamedThing			mondoexuq1wtf																														
DOID:1660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030455	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44111003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225219	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019163	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60014	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535913	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600496	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554657	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319635	biolink:NamedThing			mondoexuq1wtf																														
DOID:11252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3987009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69484003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40133	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67182003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445513004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61804006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126677000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500166	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007938	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262648	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020615	biolink:NamedThing	obsolete blood group system, landsteiner-wiener		mondoexuq1wtf	LW|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER|Landsteiner-Wiener Blood Group System									True		OMIM:111250																		owl:Class
UMLS:C3887952	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158266	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707354003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237578	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234951001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:473460002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71961003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5497	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223350	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3661988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228266	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76047005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203057005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585129	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201096007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201127007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155664000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206939001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53689	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028768	biolink:NamedThing			mondoexuq1wtf																														
DOID:3103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475801	biolink:NamedThing			mondoexuq1wtf																														
DOID:9749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59118001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118935006	biolink:NamedThing			mondoexuq1wtf																														
DOID:115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152455	biolink:NamedThing			mondoexuq1wtf																														
DOID:2048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314993	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191739006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191223003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458792	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060011	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070318	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234627009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227611	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203750	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720517001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204464007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182050	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78370002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155762006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574083	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110239	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3472711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617598	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080628	biolink:NamedThing			mondoexuq1wtf																														
DOID:1387	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270913	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020017	biolink:NamedThing	obsolete rare otorhinolaryngologic disease	Any of the forms of otorhinolaryngologic disease that have a rare incidence.	mondoexuq1wtf	rare otorhinolaryngologic disease|rare head and neck disease			MONDO:0024623						True		Orphanet:98036|UMLS:CN206950														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN206950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363404008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702400006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852127	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11666007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189568009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306539	biolink:NamedThing			mondoexuq1wtf																														
DOID:8850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156941008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537299	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230510002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40065	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567238	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563192	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186490006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8294	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050961	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795806	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763803004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7225	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019252	biolink:NamedThing	obsolete other metabolic disease with skin involvement		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		UMLS:CN205838|Orphanet:79217														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
UMLS:CN205838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198611007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187750004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158778	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63480004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238047006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254109004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673635	biolink:NamedThing			mondoexuq1wtf																														
DOID:11231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39959	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193159008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279563	biolink:NamedThing			mondoexuq1wtf																														
DOID:5172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155821005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413603009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7361	biolink:NamedThing			mondoexuq1wtf																														
DOID:10283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042149	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150941	biolink:NamedThing			mondoexuq1wtf																														
DOID:5102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6539	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275141	biolink:NamedThing			mondoexuq1wtf																														
DOID:5345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193491003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082937	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402700001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156026006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0694548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8601	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92788005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443995	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238949006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187603002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763132003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277185000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124343001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284411	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155382007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97166	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600757	biolink:NamedThing			mondoexuq1wtf																														
DOID:8775	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262914	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193688005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34571	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27031003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196785005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722450007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:39	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98290	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718688008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85329	biolink:NamedThing			mondoexuq1wtf																														
DOID:8867	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537929	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066367	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536939	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126303	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536935	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036813	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13534001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384494	biolink:NamedThing			mondoexuq1wtf																														
DOID:4875	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563867	biolink:NamedThing			mondoexuq1wtf																														
DOID:5138	biolink:NamedThing			mondoexuq1wtf																														
DOID:2907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66392007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0859942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77418004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109992005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236380	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C88412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732932004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510084	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070080	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024224	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700423003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195018001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566092	biolink:NamedThing			mondoexuq1wtf																														
DOID:14743	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237792009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1426774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:171847006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26836002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011702	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:30924	biolink:NamedThing			mondoexuq1wtf																														
DOID:7599	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217071	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565778	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55815007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206652	biolink:NamedThing			mondoexuq1wtf																														
DOID:10303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261204	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93827000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722461004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285310000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253094006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262984	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014258	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189831004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703295003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015972	biolink:NamedThing	obsolete rare constitutional anemia	A form of anemia (disease) that is both rare and inborn.	mondoexuq1wtf	rare inborn anemia (disease)|rare constitutional anemia (disease)|rare genetic anemia (disease)			MONDO:0002280						True		Orphanet:183651|UMLS:CN226818														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0021215	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/604308	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003616	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618341	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75458	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311300	biolink:NamedThing			mondoexuq1wtf																														
DOID:10120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240096000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446263001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319340	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61258	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021449	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192586006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193014002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:44890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391869	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715665006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197446008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2613	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254466003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468717	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617767	biolink:NamedThing			mondoexuq1wtf																														
DOID:8672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98671	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050983	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538024	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270538000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266490003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715193	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198199009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567796	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404078000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235752008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277580	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289991	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302848	biolink:NamedThing			mondoexuq1wtf																														
DOID:4059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300127	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN169364	biolink:NamedThing			mondoexuq1wtf																														
DOID:3202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127021009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226272	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38847009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156018003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722459008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111170	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234589002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448270009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023794	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84992	biolink:NamedThing			mondoexuq1wtf																														
DOID:3382	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9062008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193104	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060081	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274708	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060062	biolink:NamedThing			mondoexuq1wtf																														
DOID:10353	biolink:NamedThing			mondoexuq1wtf																														
DOID:4159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN160484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156010005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128105004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303163	biolink:NamedThing			mondoexuq1wtf																														
DOID:3089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519912	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1417859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303785	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269551004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35327006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128127008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41918006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673414	biolink:NamedThing			mondoexuq1wtf																														
DOID:7713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734021001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31437008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719275009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38542009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80059007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0679771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126070	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015116	biolink:NamedThing	obsolete rare biliary tract disease	Rare biliary tract disease.	mondoexuq1wtf	rare biliary tract disease			MONDO:0004868			UMLS:C0005424|UMLS:C0750952			True		UMLS:CN197473|Orphanet:101941														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:101941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270970	biolink:NamedThing			mondoexuq1wtf																														
DOID:8411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:598363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:441434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155050	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393570	biolink:NamedThing			mondoexuq1wtf																														
DOID:7825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1943	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399441	biolink:NamedThing			mondoexuq1wtf																														
DOID:13799	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194817004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057069	biolink:NamedThing			mondoexuq1wtf																														
DOID:8802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195358008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862933	biolink:NamedThing			mondoexuq1wtf																														
DOID:12357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85326	biolink:NamedThing			mondoexuq1wtf																														
DOID:6676	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61003004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116920	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003141	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715526002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725408001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1265996	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722376008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198044002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162500	biolink:NamedThing			mondoexuq1wtf																														
DOID:8221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274993	biolink:NamedThing			mondoexuq1wtf																														
DOID:12347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0286172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15230009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009322	biolink:NamedThing	obsolete halo nevi		mondoexuq1wtf				MONDO:0006778						True		OMIM:234300														https://github.com/monarch-initiative/mondo/pull/1411|https://github.com/monarch-initiative/mondo/issues/1259				owl:Class
http://identifiers.org/omim/234300	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333454	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268994	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836672	biolink:NamedThing			mondoexuq1wtf																														
DOID:3324	biolink:NamedThing			mondoexuq1wtf																														
DOID:4880	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050685	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:111	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266127002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5758002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617115	biolink:NamedThing			mondoexuq1wtf																														
DOID:4923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47903000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726347008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480701	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66695004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397593	biolink:NamedThing			mondoexuq1wtf																														
DOID:5525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51771007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110811	biolink:NamedThing			mondoexuq1wtf																														
DOID:6659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:5	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40090	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92279000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238694002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295067	biolink:NamedThing			mondoexuq1wtf																														
DOID:5246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618527	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045169	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444712000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49130001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194258000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237770005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537189	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0239138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89084002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1648	biolink:NamedThing			mondoexuq1wtf																														
DOID:66	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240450004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2919796	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405737000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749033	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400954002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248861000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94853	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023927	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019860	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536946	biolink:NamedThing			mondoexuq1wtf																														
DOID:11099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537447	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN842246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720825005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254022009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2747	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226751	biolink:NamedThing			mondoexuq1wtf																														
DOID:50	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752047	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564611	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007835	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717859007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93660000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4032	biolink:NamedThing			mondoexuq1wtf																														
DOID:3091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61989004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015525	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207426	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189193002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81206005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060125	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720750004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266474003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187605009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237519	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059347	biolink:NamedThing			mondoexuq1wtf																														
DOID:355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848414	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196914007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275145	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1946	biolink:NamedThing			mondoexuq1wtf																														
DOID:11752	biolink:NamedThing			mondoexuq1wtf																														
DOID:711	biolink:NamedThing			mondoexuq1wtf																														
DOID:811	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194158009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81060008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699189004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018080	biolink:NamedThing	obsolete rare germ cell tumor	Rare germ cell tumor.	mondoexuq1wtf	germ cell tumor|rare germ cell tumor			MONDO:0005040		Editor note: consider merging to parent	UMLS:C0740345			True		SCTID:402878003|Orphanet:3399														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:3399	biolink:NamedThing			mondoexuq1wtf																														
DOID:11518	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42265009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314718	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267770004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52954000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614932	biolink:NamedThing			mondoexuq1wtf																														
DOID:10968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601676	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393808	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111013	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155772	biolink:NamedThing			mondoexuq1wtf																														
DOID:6457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763665007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716696006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39098006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5311	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8936	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20637002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8805001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93168006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63364005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111742	biolink:NamedThing			mondoexuq1wtf																														
DOID:6643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45157009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715666007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332844	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718555006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111520007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254052001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4079000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254090007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271327008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230387008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414531002	biolink:NamedThing			mondoexuq1wtf																														
DOID:8607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302790	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155152009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3147379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187267007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704275	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338585	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128842008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310781	biolink:NamedThing			mondoexuq1wtf																														
DOID:3633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154819009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721161005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98894	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:487796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54682008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77116006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195569005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31053003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73397007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267384006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:test	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155141	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194044005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763835004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79507	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1326	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0025518	biolink:NamedThing	obsolete aspirin allergy	A allergic disease involving a acetylsalicylic acid.	mondoexuq1wtf	acetylsalicylic acid allergy|acetylsalicylic acid allergic disease|allergy of acetylsalicylic acid|ASA allergy	MONDO:outOfScope					UMLS:C0004058|ICD9:995.27|IEDB:RV			True		SCTID:293586001|DOID:0040002														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
SNOMEDCT:293586001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416069001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271130	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064257	biolink:NamedThing			mondoexuq1wtf																														
DOID:3532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0879606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423615009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192640001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390834004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271528002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87807004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4690	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68627009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837530	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008531	biolink:NamedThing	obsolete T-complex locus TCP10B		mondoexuq1wtf	T-complex locus TCP10B|TCP10B									True		OMIM:187030																		owl:Class
http://identifiers.org/omim/187030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191277004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162159008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613088	biolink:NamedThing			mondoexuq1wtf																														
UBERON:0002061	biolink:NamedThing			mondoexuq1wtf																														owl:Class
ORPHA:318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435930	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150969	biolink:NamedThing			mondoexuq1wtf																														
DOID:992	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715624006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700094005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:570762	biolink:NamedThing			mondoexuq1wtf																														
DOID:7969	biolink:NamedThing			mondoexuq1wtf																														
DOID:1217	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255522009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302852008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346811	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751310	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537070	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27597	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3287	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:288	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65275009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204879009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363374005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037274	biolink:NamedThing			mondoexuq1wtf																														
DOID:1614	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715426004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76500009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192903006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001486	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538197	biolink:NamedThing			mondoexuq1wtf																														
DOID:1468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197776002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265241	biolink:NamedThing			mondoexuq1wtf																														
DOID:5074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864648	biolink:NamedThing			mondoexuq1wtf																														
DOID:12341	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716650003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36188001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152415	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722449007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73123008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566946	biolink:NamedThing			mondoexuq1wtf																														
DOID:5569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600321	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740277	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703256004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518695	biolink:NamedThing			mondoexuq1wtf																														
DOID:8593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764629008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71279	biolink:NamedThing			mondoexuq1wtf																														
DOID:5572	biolink:NamedThing			mondoexuq1wtf																														
DOID:7039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186922002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723461007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415176004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254144002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155184002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2099007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155443009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193866007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055948	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6483008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156147	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189776008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267813002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:132	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136900	biolink:NamedThing			mondoexuq1wtf																														
DOID:13775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54385001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808966	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013283	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538148	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50799005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017539	biolink:NamedThing	obsolete postaxial polydactyly of toes, unilateral		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0011348			True		Orphanet:295179|ICD10:Q69.2																		owl:Class
ORPHA:295179	biolink:NamedThing			mondoexuq1wtf																														
DOID:8883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342158	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:412795008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126817006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617929	biolink:NamedThing			mondoexuq1wtf																														
DOID:2981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614025	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127026004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402860008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10429004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN865669	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220987	biolink:NamedThing			mondoexuq1wtf																														
DOID:4927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536715	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721228006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717766000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363509000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135196	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277156006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/224821	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196598004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715218009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060375	biolink:NamedThing			mondoexuq1wtf																														
DOID:4716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0332941	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39788007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192678004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618250	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266005008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515306	biolink:NamedThing			mondoexuq1wtf																														
DOID:5846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142919000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268240	biolink:NamedThing			mondoexuq1wtf																														
DOID:1924	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931455	biolink:NamedThing			mondoexuq1wtf																														
DOID:2769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085570	biolink:NamedThing			mondoexuq1wtf																														
DOID:10779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1167650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254071004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22954002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266491004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413427002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191759005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32183007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970479	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267454002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203205002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2927	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2021	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613697	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73363000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205696000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6381009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406344	biolink:NamedThing			mondoexuq1wtf																														
DOID:3421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200944003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563591	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0001605	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0060866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809991	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40164	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129023	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553538	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008441	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015479	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/540000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190696004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615343	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110324	biolink:NamedThing			mondoexuq1wtf																														
DOID:293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190427005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399831	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3989	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310708	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186846005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018567	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12456005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53889007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193389005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707609006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9496	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406096006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266290000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414603003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044265	biolink:NamedThing	obsolete tooth size		mondoexuq1wtf	tooth size					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:314240																		owl:Class
UMLS:C1839140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334699	biolink:NamedThing			mondoexuq1wtf																														
DOID:10195	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85041	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156729009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535645	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2963	biolink:NamedThing			mondoexuq1wtf																														
DOID:2143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833835	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716708005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520779	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313838	biolink:NamedThing			mondoexuq1wtf																														
DOID:5439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239802003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563673	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536259	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618663	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307651005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86463003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225250	biolink:NamedThing			mondoexuq1wtf																														
DOID:12537	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234467004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195356007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189336000	biolink:NamedThing			mondoexuq1wtf																														
DOID:11430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674218	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187189004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413616009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552303	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156131006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125853	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015917	biolink:NamedThing	obsolete malignant glioma		mondoexuq1wtf				MONDO:0100342		Moved Orphanet equiv dbxref to parent class (glioma). Therefore obsoleted this term and created a new term that is not equiv to Orphanet:182067.				True																https://github.com/monarch-initiative/mondo/issues/2932				owl:Class
ORPHA:466682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267696006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154620001	biolink:NamedThing			mondoexuq1wtf																														
DOID:688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156373006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535465	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404068003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325351	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005588	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111487	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266456	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201138007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94049001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53648006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274017	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6178	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227778	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267489000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128457007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275321	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267453008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254859006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122576	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334057	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605039	biolink:NamedThing			mondoexuq1wtf																														
DOID:1752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92410006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607131	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110372	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27026	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852092	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201091002	biolink:NamedThing			mondoexuq1wtf																														
DOID:8102	biolink:NamedThing			mondoexuq1wtf																														
DOID:1757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:296	biolink:NamedThing			mondoexuq1wtf																														
DOID:3431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193777005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34149	biolink:NamedThing			mondoexuq1wtf																														
DOID:11724	biolink:NamedThing			mondoexuq1wtf																														
DOID:5990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675891	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055665	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565176	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3546	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392133001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155430009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255031003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267687006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717044000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030472	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567827	biolink:NamedThing			mondoexuq1wtf																														
DOID:1672	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367460001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748012	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364541	biolink:NamedThing			mondoexuq1wtf																														
DOID:4260	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268251	biolink:NamedThing			mondoexuq1wtf																														
DOID:6166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32361000119104	biolink:NamedThing			mondoexuq1wtf																														
DOID:2361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707405009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563691	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190812003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044280	biolink:NamedThing	obsolete glycerol quantitative trait locus		mondoexuq1wtf	GLYCEROL quantitative trait locus|Glycerol release during exercise, defective|GLYCQTL|body Mass index quantitative trait locus 17					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:614411																		owl:Class
UMLS:C3280715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314667	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006562	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536508	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419494007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126883004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2088	biolink:NamedThing			mondoexuq1wtf																														
DOID:9402	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020814	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010190	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190443003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201060008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193510	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535988	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457077	biolink:NamedThing			mondoexuq1wtf																														
DOID:9401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24927004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1709	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617127	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34638006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035865	biolink:NamedThing			mondoexuq1wtf																														
DOID:2479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4319932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554428	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255138	biolink:NamedThing			mondoexuq1wtf																														
DOID:10400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187671001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201636005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013146	biolink:NamedThing			mondoexuq1wtf																														
DOID:4903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721014007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193811006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030756	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040196	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567129	biolink:NamedThing			mondoexuq1wtf																														
DOID:8527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7378	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225246	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33670001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615607	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73442001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227662	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69524004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237467005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26966	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931755	biolink:NamedThing			mondoexuq1wtf																														
DOID:11527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204689005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343376	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77919000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614299	biolink:NamedThing			mondoexuq1wtf																														
DOID:8512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124523006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616724	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239937004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715529009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300496	biolink:NamedThing			mondoexuq1wtf																														
DOID:11088	biolink:NamedThing			mondoexuq1wtf																														
DOID:1919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55655	biolink:NamedThing			mondoexuq1wtf																														
DOID:7528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611868	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34479	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564884	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008444	biolink:NamedThing			mondoexuq1wtf																														
DOID:14067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88169003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015469	biolink:NamedThing			mondoexuq1wtf																														
DOID:3744	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614889	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11210002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110546	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254851	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238687000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN924922	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931366	biolink:NamedThing			mondoexuq1wtf																														
DOID:10661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363456000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267712004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719254001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194087008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266285003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195883000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93853008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763209008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154885006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193015001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765750001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266374002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81634008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853901	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430478003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189818009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20842008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN262500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751307	biolink:NamedThing			mondoexuq1wtf																														
DOID:12859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718193005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:250998008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49937004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3342	biolink:NamedThing			mondoexuq1wtf																														
DOID:3508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302829009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416442006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84775	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363454	biolink:NamedThing			mondoexuq1wtf																														
DOID:1512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206146	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150653	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4048549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1112003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254638002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188264002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254156001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155807008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50559	biolink:NamedThing			mondoexuq1wtf																														
DOID:3449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78325005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338488	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2718067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204702	biolink:NamedThing			mondoexuq1wtf																														
DOID:11390	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070089	biolink:NamedThing			mondoexuq1wtf																														
DOID:3321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239133004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187494009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1399352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67832005	biolink:NamedThing			mondoexuq1wtf																														
DOID:13159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192641002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930802	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006542	biolink:NamedThing			mondoexuq1wtf																														
DOID:11049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858535	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201803007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68771000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363194005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C171603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200962	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072036	biolink:NamedThing			mondoexuq1wtf																														
DOID:529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98702	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84903	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054752	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192980007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54304004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193780006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49882001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766760004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154478000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137130	biolink:NamedThing			mondoexuq1wtf																														
DOID:1338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206666	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111306	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126921000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22716005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536169	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193000002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421182009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111287006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90708001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042636	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7916009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613559	biolink:NamedThing			mondoexuq1wtf																														
DOID:14095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393551	biolink:NamedThing			mondoexuq1wtf																														
DOID:4006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77075001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969084	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538539	biolink:NamedThing			mondoexuq1wtf																														
DOID:1837	biolink:NamedThing			mondoexuq1wtf																														
DOID:7192	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842586	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83605009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54336006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22818000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032031	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0045027	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1333505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82108004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717973004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416481006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851413	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1358	biolink:NamedThing			mondoexuq1wtf																														
DOID:3649	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405752007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203511	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C63924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0862312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156665008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1227	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567839	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3034	biolink:NamedThing			mondoexuq1wtf																														
DOID:1483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723332005	biolink:NamedThing			mondoexuq1wtf																														
DOID:13884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856790	biolink:NamedThing			mondoexuq1wtf																														
DOID:7388	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27712000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115238001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005683	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1685005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156407009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5440009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194117002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415285009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719009006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126972009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52713000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93626	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110262	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90030	biolink:NamedThing			mondoexuq1wtf																														
DOID:6566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725101002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515284	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536552	biolink:NamedThing			mondoexuq1wtf																														
DOID:3716	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537133	biolink:NamedThing			mondoexuq1wtf																														
DOID:8872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186587002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835577	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126884005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537854	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35206	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79455	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41491009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002341	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35072	biolink:NamedThing			mondoexuq1wtf																														
DOID:7716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810376	biolink:NamedThing			mondoexuq1wtf																														
DOID:11575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251331003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233855002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:912	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000425	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519099	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000802	biolink:NamedThing	obsolete Indian prawn allergy	A allergic disease involving a Indian prawn.	mondoexuq1wtf	Indian prawn allergic disease|allergy of Indian prawn|Fenneropenaeus indicus allergy	MONDO:outOfScope								True		DOID:0060527														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234644008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619036	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22169002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740480	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65673007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:241154007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4538407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263479	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010610	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604335	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617383	biolink:NamedThing			mondoexuq1wtf																														
DOID:5389	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616515	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001948	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39935	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004482	biolink:NamedThing			mondoexuq1wtf																														
DOID:12894	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232254004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410038006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71253000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332186	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193481009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190107001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42873008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406476007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609227	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856891	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719949001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35204	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840403	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187356008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535477	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33655002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070091	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308998	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203496006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267997004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268025	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8312004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25690000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76312009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67048	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847735	biolink:NamedThing			mondoexuq1wtf																														
DOID:8646	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536356	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304150	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015507	biolink:NamedThing	obsolete rare genetic hepatic disease	Rare genetic liver disease.	mondoexuq1wtf	rare genetic liver disease			MONDO:0005154						True		Orphanet:156601|UMLS:CN199640														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C27182	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276672007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295099	biolink:NamedThing			mondoexuq1wtf																														
DOID:13911	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168606	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64410003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153395	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345566	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4089	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3931	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268273	biolink:NamedThing			mondoexuq1wtf																														
DOID:2078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64333001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91954009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4945003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38898003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237057005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99960	biolink:NamedThing			mondoexuq1wtf																														
DOID:418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203354006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372062007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840389	biolink:NamedThing			mondoexuq1wtf																														
DOID:5075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1389016	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67988000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0742472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410060	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240645	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835671	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125709	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69088	biolink:NamedThing			mondoexuq1wtf																														
DOID:8389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707339009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4693905	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111636	biolink:NamedThing			mondoexuq1wtf																														
DOID:2960	biolink:NamedThing			mondoexuq1wtf																														
DOID:10354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56905009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606812	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157007005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178464	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1079004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91968002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562978	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409667	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194437008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:356947	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034089	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752140	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253260	biolink:NamedThing			mondoexuq1wtf																														
DOID:8446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188594009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155733005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614741	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048251	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155083006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535788	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187771009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48194001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41618	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333083	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020562	biolink:NamedThing			mondoexuq1wtf																														
DOID:1453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537330	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567381	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619108	biolink:NamedThing			mondoexuq1wtf																														
DOID:11809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195300008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412749	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567833	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111247	biolink:NamedThing			mondoexuq1wtf																														
DOID:6101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857453	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722036008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2720163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62382002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204109	biolink:NamedThing			mondoexuq1wtf																														
DOID:3918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189937004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190916001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050736	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34651	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717010007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565298	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832441	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722385008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27018	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111330	biolink:NamedThing			mondoexuq1wtf																														
DOID:60008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155783000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567684	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060703	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563921	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0554472	biolink:NamedThing			mondoexuq1wtf																														
DOID:14443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1504517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194848007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237662005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27628	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930864	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050945	biolink:NamedThing			mondoexuq1wtf																														
DOID:2430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199260	biolink:NamedThing			mondoexuq1wtf																														
DOID:12176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202284	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193430004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128106003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403945001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93989001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52159006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154549004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137370	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281241	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40295	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149750	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007506	biolink:NamedThing	obsoleted echo virus 11 sensitivity		mondoexuq1wtf	echo virus 11 sensitivity|E11S						MONDO:0005740			True		MESH:C565071|UMLS:C1851888|OMIM:129150																		owl:Class
http://identifiers.org/omim/129150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41864002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95619009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89859004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2576002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192699001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C52593	biolink:NamedThing			mondoexuq1wtf																														
DOID:12424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254730000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931737	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162565	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205803001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6770	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010309	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9527009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195679003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1278	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566924	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7731005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039319	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121988	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157756002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155164001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190913009	biolink:NamedThing			mondoexuq1wtf																														
DOID:10610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155918	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000069281	biolink:NamedThing			mondoexuq1wtf																														
DOID:1255	biolink:NamedThing			mondoexuq1wtf																														
DOID:9779	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35031005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2701	biolink:NamedThing			mondoexuq1wtf																														
DOID:14032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2033037	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614839	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40608009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203833006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:76	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764943000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606674	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067940	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015560	biolink:NamedThing			mondoexuq1wtf																														
DOID:4184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72945002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19034001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970945	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154795009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269537004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220681	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535561	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080227	biolink:NamedThing			mondoexuq1wtf																														
DOID:13955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715369006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252212	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94068	biolink:NamedThing			mondoexuq1wtf																														
DOID:4049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333372	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536124	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111029001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203393002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359619007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44295002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307358009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74825008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4588	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19087001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253184003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4486	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618419	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371631005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1801959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404499	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157110000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5964	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020503	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1285162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186836008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:211490002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211930	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95834000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726401004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154826009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254611009	biolink:NamedThing			mondoexuq1wtf																														
DOID:9814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223380	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154625006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339296	biolink:NamedThing			mondoexuq1wtf																														
DOID:4295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254641006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347201	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189208007	biolink:NamedThing			mondoexuq1wtf																														
DOID:12526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0522624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839565	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009436	biolink:NamedThing			mondoexuq1wtf																														
MESH:D043204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128713007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62647006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162311	biolink:NamedThing			mondoexuq1wtf																														
DOID:10983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718228001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720746006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005348	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851428	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447974	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63449009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610476	biolink:NamedThing			mondoexuq1wtf																														
MESH:C575534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168953	biolink:NamedThing			mondoexuq1wtf																														
DOID:2921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10934005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94124002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154705004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21964009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269560007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123049003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715401008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009657	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79486	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71436005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702364003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017166	biolink:NamedThing	obsolete rare tumor of salivary glands		mondoexuq1wtf		MONDO:outOfScope					UMLS:C0036095			True		Orphanet:276142														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C1858723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193030005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153494	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195043007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200979001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78875003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74925009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237560005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111047	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225237	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189546004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235967003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613916	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3283	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564715	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090062	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044277	biolink:NamedThing	obsolete uric acid concentration, serum, quantitative trait locus 4		mondoexuq1wtf	uric acid concentration, serum, quantitative trait locus 4|UAQTL4|gout susceptibility 4					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:612671																		owl:Class
http://identifiers.org/omim/612671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226783	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191313005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715793003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601979	biolink:NamedThing			mondoexuq1wtf																														
DOID:4193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717061002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154644004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845235	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044224	biolink:NamedThing	obsolete apocrine gland secretion, variation 1n		mondoexuq1wtf	Ear wax, wet/dry|axillary odor, variation 1N|apocrine gland secretion, variation IN|colostrum secretion, variation 1N|cerumen, variation 1N|wet wax					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:117800																		owl:Class
UMLS:C1861696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765141005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033377	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192673008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188980001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34781003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060100	biolink:NamedThing			mondoexuq1wtf																														
DOID:11385	biolink:NamedThing			mondoexuq1wtf																														
DOID:7380	biolink:NamedThing			mondoexuq1wtf																														
DOID:13691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278098005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:229752008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602271	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43489008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82725007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202651	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425333006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83436008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242617	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402867006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302873008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155261003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200039	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197311004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267599007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8312	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018825	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22841008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254170001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035326	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129031	biolink:NamedThing			mondoexuq1wtf																														
DOID:1523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193395006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862299	biolink:NamedThing			mondoexuq1wtf																														
DOID:7527	biolink:NamedThing			mondoexuq1wtf																														
DOID:12680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3403	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332845	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194171007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31978002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/508879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206650	biolink:NamedThing			mondoexuq1wtf																														
DOID:2730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34498	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268090002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155890	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37997	biolink:NamedThing			mondoexuq1wtf																														
DOID:720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080434	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195121002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237743003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057454	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9436005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023466	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014898	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17382005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275464006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206613	biolink:NamedThing			mondoexuq1wtf																														
DOID:4840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277619001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50620007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332956	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41256004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346169	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050670	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111669	biolink:NamedThing			mondoexuq1wtf																														
DOID:8659	biolink:NamedThing			mondoexuq1wtf																														
DOID:4998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189991001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6278	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277538003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40152000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155011003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10824	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101096	biolink:NamedThing			mondoexuq1wtf																														
DOID:1893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94069006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2032001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763367009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32272007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94378	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564702	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536227	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99106	biolink:NamedThing			mondoexuq1wtf																														
DOID:7565	biolink:NamedThing			mondoexuq1wtf																														
DOID:6015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278050001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427945008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92169007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128924002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723822009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98914	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242172	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131657	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612964	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192921009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN168656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261816	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863753	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98917	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203101004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155324005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154590001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149881	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069211	biolink:NamedThing			mondoexuq1wtf																														
DOID:9841	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204822	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262137	biolink:NamedThing			mondoexuq1wtf																														
DOID:225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847132	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186962003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:887	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92091003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036133	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36667009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155167008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539010	biolink:NamedThing			mondoexuq1wtf																														
DOID:6489	biolink:NamedThing			mondoexuq1wtf																														
DOID:12932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404120006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93616000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931466	biolink:NamedThing			mondoexuq1wtf																														
DOID:4308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88860002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118653003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3899673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1880102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270536001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46659004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27059002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234356001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18109005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236398000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936502	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719651000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5187006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300913006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C156430	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47604008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8691004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238875009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236957004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863767	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018073	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/609460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:140805008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720854004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53707	biolink:NamedThing			mondoexuq1wtf																														
DOID:3733	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000746	biolink:NamedThing			mondoexuq1wtf																														
DOID:14798	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154348008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717920004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019936	biolink:NamedThing	obsolete rare otorhinolaryngological malformation		mondoexuq1wtf		MONDO:outOfScope								True		UMLS:CN227722|Orphanet:96333														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C0009373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63387002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46785007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234539005	biolink:NamedThing			mondoexuq1wtf																														
DOID:10153	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726360002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79196	biolink:NamedThing			mondoexuq1wtf																														
DOID:419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238003000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154537000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155631000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154773005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016395	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020790	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566375	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050031	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4179	biolink:NamedThing			mondoexuq1wtf																														
DOID:3239	biolink:NamedThing			mondoexuq1wtf																														
DOID:1171	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060799	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111422	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857569	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46206005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89142007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111501005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536301	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3658302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154591002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196627009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854334	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011384	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536942	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87694001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398791	biolink:NamedThing			mondoexuq1wtf																														
DOID:4435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289685	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267635007	biolink:NamedThing			mondoexuq1wtf																														
DOID:678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33710003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178469	biolink:NamedThing			mondoexuq1wtf																														
DOID:9965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2026186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193050	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44497007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604326	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001344	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020621	biolink:NamedThing	obsolete blood group--scianna system		mondoexuq1wtf	Scianna Blood Group|SC|BLOOD GROUP--SCIANNA SYSTEM									True		OMIM:111750																		owl:Class
UMLS:C1292292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537840	biolink:NamedThing			mondoexuq1wtf																														
DOID:3328	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2596	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254064009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:576074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41527003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0545080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0542520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194105004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370506	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205122	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748876	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111239	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725046003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51387008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264955	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722053001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466794	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78599	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155935006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267571003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4274	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363400004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2556008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072763	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050682	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36603006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267314000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764619001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201183008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839075	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98132	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126951006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49817004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310775	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34891	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276836002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4268	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987240	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266572002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833831	biolink:NamedThing			mondoexuq1wtf																														
DOID:10719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50479	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201204008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274108006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179450	biolink:NamedThing			mondoexuq1wtf																														
DOID:4300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79172	biolink:NamedThing			mondoexuq1wtf																														
DOID:11328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268094006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724649000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266298007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187599002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3012	biolink:NamedThing			mondoexuq1wtf																														
DOID:3362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197102009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001973	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015452	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263639	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004694	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50215002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389262009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202457009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27173008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75053002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196731005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94760	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5455000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280284	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201598001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6793	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2254	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195994002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808494	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35917007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796222	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3725	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85014	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68158006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014060	biolink:NamedThing			mondoexuq1wtf																														
DOID:412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148929	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842315	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930912	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270542002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152941	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190309006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84759007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202658	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0809936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254078005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014761	biolink:NamedThing			mondoexuq1wtf																														
DOID:3926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722760002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033740	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042818	biolink:NamedThing			mondoexuq1wtf																														
DOID:12594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266505001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10657	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309811003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197984006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187064007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233873004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217700	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019389	biolink:NamedThing	obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome		mondoexuq1wtf						Obsoleted in Orphanet				True		ICD10:Q87.0|Orphanet:83648|UMLS:CN227624														https://github.com/monarch-initiative/mondo/issues/2131				owl:Class
ORPHA:83648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35919005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200953005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186811002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193462001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345599	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192632007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033130	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012468	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1424692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:135	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343208	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198353000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187481007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:287731003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013169	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314191009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854154	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45163000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404072004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35280	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276654001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225360	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267562007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97092	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023174	biolink:NamedThing	obsolete follicular lymphoreticuloma		mondoexuq1wtf						Editor note: check hodgkin's disease, lymphocyte depletion, reticular				True		GARD:0002357														https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma				owl:Class
SNOMEDCT:443333004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38281008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157052008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268048008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190042004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020522	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060136	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266103004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156313004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247854002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124214007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444092	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371486001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76670001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855229	biolink:NamedThing			mondoexuq1wtf																														
DOID:13026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855425	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6188	biolink:NamedThing			mondoexuq1wtf																														
MESH:563466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26211003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124134002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154680004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309831004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126840	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3838860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15743005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154830007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124431003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187675005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861799	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2062388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845837	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259799	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611884	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206614	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92039003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231504006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:120541000119103	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254604005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34976	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35775	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608579	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279990	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060266	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616697	biolink:NamedThing			mondoexuq1wtf																														
DOID:2656	biolink:NamedThing			mondoexuq1wtf																														
DOID:10070	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566721	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536053	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D041781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857339	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112530	biolink:NamedThing			mondoexuq1wtf																														
DOID:5895	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535568	biolink:NamedThing			mondoexuq1wtf																														
DOID:14484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838651	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608320	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84565	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163979	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567389	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011707	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001882	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764627005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C16522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95573009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606179	biolink:NamedThing			mondoexuq1wtf																														
DOID:11577	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110675	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402913004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190512008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336037	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194241005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865322	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2584774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53599007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715338007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724361001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2526	biolink:NamedThing			mondoexuq1wtf																														
DOID:12336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52232007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704273	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20484008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510378	biolink:NamedThing			mondoexuq1wtf																														
DOID:14272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240190009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45342007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609397002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020243	biolink:NamedThing			mondoexuq1wtf																														
DOID:3253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329971	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723440000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404083008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84783	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733471003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839333	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87607002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709489006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN241791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418928000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92109005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94136008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237817008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205712007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0227791	biolink:NamedThing			mondoexuq1wtf																														
DOID:2071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85042000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333878	biolink:NamedThing			mondoexuq1wtf																														
DOID:7559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4258	biolink:NamedThing			mondoexuq1wtf																														
DOID:12349	biolink:NamedThing			mondoexuq1wtf																														
DOID:9097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603902	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:952	biolink:NamedThing			mondoexuq1wtf																														
DOID:7328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124630007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193032	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447275002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707670009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3154	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31671006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2029348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191513006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN774236	biolink:NamedThing			mondoexuq1wtf																														
DOID:4472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN262351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154586003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309808004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275152	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111201	biolink:NamedThing			mondoexuq1wtf																														
DOID:809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62377009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:222628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618396	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47535005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127225006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158479000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265226	biolink:NamedThing			mondoexuq1wtf																														
DOID:4489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157051001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234439008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123256004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849471	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191780004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888203	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266129	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17226007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332602	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95502	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277617004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536399	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887786	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30280005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1373	biolink:NamedThing			mondoexuq1wtf																														
DOID:1166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865044	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67247008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79607001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868675	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155917002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013344	biolink:NamedThing			mondoexuq1wtf																														
DOID:7302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300557	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080235	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562798	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1071	biolink:NamedThing			mondoexuq1wtf																														
DOID:13401	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536239	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721873007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1444838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155933004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524851	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536272	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22542007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1568248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732955001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615057	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060454	biolink:NamedThing			mondoexuq1wtf																														
DOID:6610	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2111671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3161	biolink:NamedThing			mondoexuq1wtf																														
DOID:3456	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56805008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193908006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719583002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:249491000119100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279695	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110651	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7461	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567760	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841853	biolink:NamedThing			mondoexuq1wtf																														
DOID:7144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155508005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609285	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206812	biolink:NamedThing			mondoexuq1wtf																														
DOID:613	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27044	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294990	biolink:NamedThing			mondoexuq1wtf																														
DOID:2527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189915006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2188058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2957	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63922003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280358	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403609001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193455005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765486004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206737	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060793	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555198	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013124	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016406	biolink:NamedThing	obsolete other metabolic disease with epilepsy		mondoexuq1wtf		MONDO:outOfScope				Editor note: consider merging				True		UMLS:CN201333|Orphanet:225713														https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
ORPHA:225713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352490	biolink:NamedThing			mondoexuq1wtf																														
DOID:7968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43152001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189579004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43226001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080021	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6840	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:116381000119105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6933	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197474	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855761	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0458224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128776008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033572	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0014913	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/260910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:366059005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26460006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116919	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0028743	biolink:NamedThing	obsolete dysostosis with brachydactyly with extraskeletal manifestations		mondoexuq1wtf										True		Orphanet:498454																		owl:Class
ORPHA:498454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79477	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187742008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137628	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196624002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35868	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057936	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610830	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064199	biolink:NamedThing			mondoexuq1wtf																														
DOID:14737	biolink:NamedThing			mondoexuq1wtf																														
DOID:9562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275481002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207028	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63661009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C72069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129611009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191520	biolink:NamedThing			mondoexuq1wtf																														
DOID:437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21341004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070046	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191169008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29889000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284284	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40125	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931064	biolink:NamedThing			mondoexuq1wtf																														
DOID:13921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154879004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410494003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154994001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100075	biolink:NamedThing			mondoexuq1wtf																														
DOID:7398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238931006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7457	biolink:NamedThing			mondoexuq1wtf																														
DOID:9087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192782005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4751	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861065	biolink:NamedThing			mondoexuq1wtf																														
DOID:1729	biolink:NamedThing			mondoexuq1wtf																														
DOID:3172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240849009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93766000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49455004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204878001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2736005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602078	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930965	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763462004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832244	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000890	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39868	biolink:NamedThing			mondoexuq1wtf																														
DOID:11285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723443003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156385	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563991	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537265	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266478000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63042009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198221007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3213	biolink:NamedThing			mondoexuq1wtf																														
DOID:672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281241	biolink:NamedThing			mondoexuq1wtf																														
DOID:820	biolink:NamedThing			mondoexuq1wtf																														
DOID:3450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124465002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94125	biolink:NamedThing			mondoexuq1wtf																														
DOID:6314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612527	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347213	biolink:NamedThing			mondoexuq1wtf																														
DOID:9840	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445257004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155596	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35546006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178478	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020194	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128884000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007246	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202780000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060671	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060372	biolink:NamedThing			mondoexuq1wtf																														
DOID:2810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607855	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015123	biolink:NamedThing	obsolete rare inherited dyslipidemia	Rare lipid metabolism disorder.	mondoexuq1wtf	rare lipid metabolism disorder|rare dyslipidemia			MONDO:0002525			ICD10:E78.2|ICD10:E78.1|ICD10:E78.5|ICD10:E78.9|ICD10:E78.6|ICD10:E78.8|UMLS:C0242339|ICD10:E78.0|ICD10:E78.4|ICD10:E78.3			True		Orphanet:101953														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:105985007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4311046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187230004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349464	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58868000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189359006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2103002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069646	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536761	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266378004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403948004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064895	biolink:NamedThing			mondoexuq1wtf																														
DOID:219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268142006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205441002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226904	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201086003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723410002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4767	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238462	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61170000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686237	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733068001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619132	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537294	biolink:NamedThing			mondoexuq1wtf																														
DOID:5764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226680	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180	biolink:NamedThing			mondoexuq1wtf																														
DOID:5374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163662	biolink:NamedThing			mondoexuq1wtf																														
DOID:5769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855647	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020617	biolink:NamedThing	obsolete blood group--ok		mondoexuq1wtf	BLOOD GROUP--OK|OK									True		OMIM:111380																		owl:Class
http://identifiers.org/omim/111380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261680	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:22	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74774004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152072	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616910	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538068	biolink:NamedThing			mondoexuq1wtf																														
DOID:4997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720813007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN037005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111591002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702412005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201592000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79310	biolink:NamedThing			mondoexuq1wtf																														
DOID:297	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805432	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38795005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276725	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698851003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070145	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267403002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195648002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124518006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700211007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723450004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89791006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218330	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268363	biolink:NamedThing			mondoexuq1wtf																														
DOID:1116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61536007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82642007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C141423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192826000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2076	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206635	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864670	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018700	biolink:NamedThing	obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy		mondoexuq1wtf										True		Orphanet:457062																		owl:Class
ORPHA:457062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28740008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035328	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193026007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110734	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264408	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88991	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3343	biolink:NamedThing			mondoexuq1wtf																														
DOID:639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335449	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192950	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203041	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070072	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565976	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36616	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268252	biolink:NamedThing			mondoexuq1wtf																														
DOID:6554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195472000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12205003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203424002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359814004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:24	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702357000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194140003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3577000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677516	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363402007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603523	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189739005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39871006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111388003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1739094	biolink:NamedThing			mondoexuq1wtf																														
DOID:10787	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300148	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26742	biolink:NamedThing			mondoexuq1wtf																														
DOID:1334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400204000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40385	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005892	biolink:NamedThing			mondoexuq1wtf																														
DOID:13359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189914005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7718	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567464	biolink:NamedThing			mondoexuq1wtf																														
DOID:11452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227350	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1767005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15258001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194266009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4911	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42392001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703268008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029182	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183527	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050873	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/280000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238968009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131646	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036572	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605364	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718211004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200722003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22996003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711480000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152915	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3217	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79105	biolink:NamedThing			mondoexuq1wtf																														
DOID:10609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397912004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616249	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725148000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5888003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266646002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235323008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080626	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231472009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18048008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196160008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392481002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425868004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189576006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200899	biolink:NamedThing			mondoexuq1wtf																														
DOID:6198	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600881	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015616	biolink:NamedThing	obsolete rare genetic intestinal disease		mondoexuq1wtf	genetic intestinal disease			MONDO:0005020						True		UMLS:CN199992|Orphanet:165655														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:CN199992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253066003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193257004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111776	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237687003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699185005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192623005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349666	biolink:NamedThing			mondoexuq1wtf																														
DOID:13327	biolink:NamedThing			mondoexuq1wtf																														
DOID:4501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763131005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858391	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721095007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363447	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205067002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616833	biolink:NamedThing			mondoexuq1wtf																														
DOID:2697	biolink:NamedThing			mondoexuq1wtf																														
DOID:8030	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198019005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702407009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255125	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518327	biolink:NamedThing			mondoexuq1wtf																														
DOID:11887	biolink:NamedThing			mondoexuq1wtf																														
DOID:8006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9423	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11852004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613330	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226739	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1134515	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33176006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567499	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154357002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608281	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196827007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188552006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716742001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193591001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22255007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10744	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563399	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99109	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89655007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162344009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403984006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34335000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301364	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010264	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32883009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118632	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719047001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019322	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124202004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49784007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4334	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110761	biolink:NamedThing			mondoexuq1wtf																														
DOID:2340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319213	biolink:NamedThing			mondoexuq1wtf																														
DOID:13174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861385	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613571	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809918	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205196	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1141890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188294008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33647009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194041002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266553002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859147	biolink:NamedThing			mondoexuq1wtf																														
DOID:4674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010068	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193774003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0244252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1737210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371974006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2518	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516422	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027074	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535356	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748226	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:401138005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206667	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010954	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197838000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56177003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23414001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71787009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862081	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84627005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205622008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536172	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66948001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968561	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017001	biolink:NamedThing	obsolete X chromosome number anomaly with male phenotype		mondoexuq1wtf										True		Orphanet:263720																		owl:Class
SNOMEDCT:62151000119109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726620005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206803	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020609	biolink:NamedThing	obsolete blood group, colton system		mondoexuq1wtf	Colton-Null Phenotype|BLOOD GROUP, COLTON SYSTEM|CO|Colton Blood Group System									True		OMIM:110450																		owl:Class
http://identifiers.org/omim/110450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49347007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725033008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12959	biolink:NamedThing			mondoexuq1wtf																														
DOID:13366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193275003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203671	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266444006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2359002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196006003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:5448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765745007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128774006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57706008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27855	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111744	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010301	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020258	biolink:NamedThing	obsolete oculomotor apraxia or related oculomotor disease		mondoexuq1wtf							HP:0000657			True		Orphanet:98688|UMLS:CN207073														https://github.com/monarch-initiative/mondo/issues/834				owl:Class
ORPHA:98688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:189439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155006000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267726008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193355009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721975004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338430	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154333002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206138	biolink:NamedThing			mondoexuq1wtf																														
DOID:12271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715472000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192040000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564922	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610430	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204656005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768556005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024433	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233733000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015519	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608890	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269278001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93805009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363436001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190268003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536447	biolink:NamedThing			mondoexuq1wtf																														
DOID:13251	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271198001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272650	biolink:NamedThing			mondoexuq1wtf																														
DOID:8096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39750	biolink:NamedThing			mondoexuq1wtf																														
DOID:1561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188726003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862172	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79494009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64967004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857663	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247765	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333048	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75860007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333817	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531604	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126872008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300333	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002239	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722436002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D026681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1443972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050127	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232065000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187772002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035404	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187360	biolink:NamedThing			mondoexuq1wtf																														
DOID:7632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212379008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1527	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10046879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11659006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274903001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720999	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206969	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719454003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128646008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154829002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859593	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018200	biolink:NamedThing	obsolete acute encephalopathy with inflammation-mediated status epilepticus		mondoexuq1wtf										True		Orphanet:363567																		owl:Class
SNOMEDCT:26468004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733045005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050734	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126650	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84570003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396343006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404040002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82245003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617056	biolink:NamedThing			mondoexuq1wtf																														
DOID:3385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66881004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266336005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93470007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019034	biolink:NamedThing			mondoexuq1wtf																														
DOID:565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C107377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278151	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563353	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:432	biolink:NamedThing			mondoexuq1wtf																														
DOID:5730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397358005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68618008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4051	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050441	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018497	biolink:NamedThing	obsolete rare autonomic nervous system disorder	Rare autonomic nervous system disease.	mondoexuq1wtf	rare autonomic nervous system disease			MONDO:0001292			UMLS:C1145628			True		Orphanet:423662														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
UMLS:C4015050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768846004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607634	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085298	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35423	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537494	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008581	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360584008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35962006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863727	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554042	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020263	biolink:NamedThing	obsolete spinocerebellar ataxia with oculomotor anomaly		mondoexuq1wtf										True		Orphanet:98693																		owl:Class
ORPHA:98693	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190823004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207248	biolink:NamedThing			mondoexuq1wtf																														
DOID:9986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18947001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186289000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8612	biolink:NamedThing			mondoexuq1wtf																														
DOID:4119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862871	biolink:NamedThing			mondoexuq1wtf																														
DOID:10802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139460001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155779000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266618004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1719382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265966	biolink:NamedThing			mondoexuq1wtf																														
DOID:4123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156445005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1860	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155172004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699817008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025193	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709240	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765755006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0010045	biolink:NamedThing	obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome	This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.	mondoexuq1wtf	Fitzsimmons syndrome|FITZSIMMONS-Guilbert syndrome|spastic paraplegia associated with brachydactyly type E|Fitzsimmons-Guilbert syndrome|moved to 270550, 190350, and 616944					Obsolete in OMIM and Orphanet.	MONDO:0014842|MONDO:0008596|MONDO:0010041			True		UMLS:C0795942|OMIM:270710|MESH:C537938|Orphanet:2823|GARD:0002343|ICD10:G82.1														https://github.com/monarch-initiative/mondo/issues/1686				owl:Class
UMLS:C0795942	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567425	biolink:NamedThing			mondoexuq1wtf																														
DOID:8649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90393	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3785	biolink:NamedThing			mondoexuq1wtf																														
DOID:10551	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276811008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0702143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220452	biolink:NamedThing			mondoexuq1wtf																														
DOID:8274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261771	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69295006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255132	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196578009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204317008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192853001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042029	biolink:NamedThing			mondoexuq1wtf																														
DOID:563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40272001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192859002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004451	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417067005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719660008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615282	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607085	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65278006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156232008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9348	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050798	biolink:NamedThing			mondoexuq1wtf																														
DOID:13450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230330004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110802	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249599	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64859006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192489002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029792	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010871	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197481005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442300000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154629	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300695	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8993	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2536	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190028007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535397	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554518	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71440001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429442006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751629	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208441	biolink:NamedThing			mondoexuq1wtf																														
DOID:1626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191752001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198524000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226080	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060592	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4557003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018921	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050660	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268358	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111735	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836182	biolink:NamedThing			mondoexuq1wtf																														
DOID:3013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363472	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32917001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1114	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266131	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41329004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388604008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020611	biolink:NamedThing	obsolete blood group--kell system		mondoexuq1wtf	Kell-Null|Blood Group--Kell-Cellano System|Ko|BLOOD GROUP--KELL SYSTEM|K(0)|KEL									True		OMIM:110900																		owl:Class
UMLS:C0022546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1320640	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16632002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191186002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/515000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26479009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67144006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4356008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70020005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154935003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430642003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109419009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410471004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0741160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12579009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28371001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406602003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615351	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060290	biolink:NamedThing			mondoexuq1wtf																														
DOID:3610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716281000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3908	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274103	biolink:NamedThing			mondoexuq1wtf																														
DOID:3603	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83521008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284227	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191193003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685787	biolink:NamedThing			mondoexuq1wtf																														
DOID:8153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363381003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715830008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8654005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888087	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340548	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6373	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6421008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7259005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193794007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93785002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189839002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98097	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607016	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236443009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90031	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150702	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52743003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192831003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615937	biolink:NamedThing			mondoexuq1wtf																														
DOID:9348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722060007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193451001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371964008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198043008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014733	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536158	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538308	biolink:NamedThing			mondoexuq1wtf																														
DOID:6576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45030009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70910003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3614	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102520	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3192	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538153	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054517	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060239	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000037	biolink:NamedThing	obsolete herpes simplex encephalitis, susceptibility		mondoexuq1wtf										True																				owl:Class
DOID:0050605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832439	biolink:NamedThing			mondoexuq1wtf																														
DOID:10126	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765744006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254250002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:6	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126729006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618951	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059202	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44155009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80690008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:360	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111078	biolink:NamedThing			mondoexuq1wtf																														
DOID:8600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715726000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190709008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192994008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456240	biolink:NamedThing			mondoexuq1wtf																														
DOID:13248	biolink:NamedThing			mondoexuq1wtf																														
DOID:1789	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2328	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152068	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85180002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511962	biolink:NamedThing			mondoexuq1wtf																														
DOID:5760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239822	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23730008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57219006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456172	biolink:NamedThing			mondoexuq1wtf																														
DOID:10127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605432	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169082	biolink:NamedThing			mondoexuq1wtf																														
DOID:13389	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432206	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0702169	biolink:NamedThing			mondoexuq1wtf																														
DOID:14021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151434	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95493	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562761	biolink:NamedThing			mondoexuq1wtf																														
DOID:12466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81934005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272176	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196650003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225376	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615473	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719172003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187731004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2842	biolink:NamedThing			mondoexuq1wtf																														
DOID:7515	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276241	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198214007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1285186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267850001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33528003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71213	biolink:NamedThing			mondoexuq1wtf																														
DOID:10426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5127009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567316	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4964	biolink:NamedThing			mondoexuq1wtf																														
DOID:10784	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764461004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186588007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21457000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91136	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017541	biolink:NamedThing	obsolete central polydactyly of toes, unilateral		mondoexuq1wtf	mirror foot, unilateral|mesoaxial polydactyly of toes, unilateral					Obsolete in Orphanet	MONDO:0011348			True		Orphanet:295183|ICD10:Q69.2																		owl:Class
ORPHA:295183	biolink:NamedThing			mondoexuq1wtf																														
DOID:9368	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267689009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266833	biolink:NamedThing			mondoexuq1wtf																														
DOID:11101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720599002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2300005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4013948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931441	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050786	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050530	biolink:NamedThing			mondoexuq1wtf																														
DOID:2531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080212	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1770	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10567003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276803003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716005004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195664005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17440005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718687003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314962	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618124	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7930	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277950001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:438476003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194852007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5134	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060863	biolink:NamedThing			mondoexuq1wtf																														
DOID:734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186781003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29570005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128934006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263396	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537536	biolink:NamedThing			mondoexuq1wtf																														
DOID:14247	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31387002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400102008	biolink:NamedThing			mondoexuq1wtf																														
DOID:8838	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535735	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564921	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6792	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155144006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859047	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64542	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725463007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699298009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281411007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717331000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020143	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300518	biolink:NamedThing			mondoexuq1wtf																														
DOID:1894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125488	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195435006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19267009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199994	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34360000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716107009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060836	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240305000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565372	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213589	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010661	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702347001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852438	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9092004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188305001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202132006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:163997001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422001004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73843004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79478	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466791	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931608	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110132	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20943002	biolink:NamedThing			mondoexuq1wtf																														
DOID:606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156616003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205523	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254219004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307150	biolink:NamedThing			mondoexuq1wtf																														
DOID:4977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310635	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850996	biolink:NamedThing			mondoexuq1wtf																														
DOID:10600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865290	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060314	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017599	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110882	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158029	biolink:NamedThing			mondoexuq1wtf																														
DOID:10488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139633004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611603	biolink:NamedThing			mondoexuq1wtf																														
DOID:14735	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278717	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234474009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197055000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6789	biolink:NamedThing			mondoexuq1wtf																														
DOID:4901	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716112005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253591008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429040005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186577001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90176007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151218	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197579006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124511000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230407006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206990000	biolink:NamedThing			mondoexuq1wtf																														
DOID:11457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776834	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196182001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198024008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363429002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3688	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128807009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857352	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764958008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1450052	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128496001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537969	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397007003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231719009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D027601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197214005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2680445	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516285	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408645001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156666009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845889	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251915	biolink:NamedThing			mondoexuq1wtf																														
DOID:5401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155030003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116817	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113610	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110843	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210250	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416154000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234990002	biolink:NamedThing			mondoexuq1wtf																														
DOID:9898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:166612004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860168	biolink:NamedThing			mondoexuq1wtf																														
DOID:4318	biolink:NamedThing			mondoexuq1wtf																														
DOID:452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266109000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403966009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796121	biolink:NamedThing			mondoexuq1wtf																														
DOID:2560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406775	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724098008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239144007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203323007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612300	biolink:NamedThing			mondoexuq1wtf																														
DOID:10493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447058001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764454003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:422519	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205467007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26609002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718691008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0541782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8757006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:252995000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015408	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39894007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0947939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155396001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193944001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314757003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618075	biolink:NamedThing			mondoexuq1wtf																														
DOID:5076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:121951000119101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238027003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233629001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39193004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4855003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75393009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66451004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277333006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192643004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191152006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59655002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3853	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129932	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225260	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007766	biolink:NamedThing			mondoexuq1wtf																														
DOID:9931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189931003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856096	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567184	biolink:NamedThing			mondoexuq1wtf																														
DOID:4286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156955000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200911009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216972	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192736002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040997	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722872000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564873	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64305001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4802	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535541	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717045004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:792004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036502	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110004001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2699572	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34909	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020065	biolink:NamedThing			mondoexuq1wtf																														
DOID:13148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861694	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008039	biolink:NamedThing			mondoexuq1wtf																														
DOID:648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128295000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23150001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5449	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060826	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73730005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080499	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5553	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41142009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617935	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763718009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190744005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939461	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359173000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931586	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0026856	biolink:NamedThing	obsolete homosexuality 1		mondoexuq1wtf	HOMOSEXUALITY 1|HMS1|Sexual Orientation, Male									True		OMIM:306995																		owl:Class
UMLS:C1415621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023461	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404032008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254257004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214450	biolink:NamedThing			mondoexuq1wtf																														
DOID:10581	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567503	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205565002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300257	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537869	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004606	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0422883	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191758002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254866007	biolink:NamedThing			mondoexuq1wtf																														
DOID:7851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111835002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852577	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090087	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85332	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3214	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613224	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255108000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1877	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333769	biolink:NamedThing			mondoexuq1wtf																														
DOID:1577	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:58040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74653006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070330	biolink:NamedThing			mondoexuq1wtf																														
DOID:5830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015286	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848805	biolink:NamedThing			mondoexuq1wtf																														
DOID:12397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN842244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7720002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4669001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207405001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333798	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216445	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044316	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10087007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4407	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536649	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763774001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719103009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474966	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612390	biolink:NamedThing			mondoexuq1wtf																														
DOID:12559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010631	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617796	biolink:NamedThing			mondoexuq1wtf																														
DOID:883	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271430002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479236	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1278821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254872007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016731	biolink:NamedThing			mondoexuq1wtf																														
DOID:4111	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162083002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612124	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90065	biolink:NamedThing			mondoexuq1wtf																														
DOID:5514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192735003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43123004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026650	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203989003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230192003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14760008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN221565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154896003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132196	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35562000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371189003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347229	biolink:NamedThing			mondoexuq1wtf																														
DOID:12157	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61758007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146255	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124892003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230724001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432273	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269526000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80526002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193358006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118610003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187173002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859965	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193767008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161550	biolink:NamedThing			mondoexuq1wtf																														
DOID:11885	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155907007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194118007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346073	biolink:NamedThing			mondoexuq1wtf																														
DOID:14501	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90725004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27846	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95218005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202455	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313936	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201455003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019151	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536551	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2897005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017409	biolink:NamedThing			mondoexuq1wtf																														
DOID:11340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796229	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1824359	biolink:NamedThing			mondoexuq1wtf																														
DOID:12857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1415005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5476	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194795001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:866003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444728005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191010004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363680	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191250008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98992	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3133	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008471	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11179002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232230009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017645	biolink:NamedThing	obsolete rare choreic movement disorder		mondoexuq1wtf				MONDO:0005395			UMLS:C0008489			True		Orphanet:306715														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:306715	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850039	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567337	biolink:NamedThing			mondoexuq1wtf																														
DOID:13593	biolink:NamedThing			mondoexuq1wtf																														
DOID:13200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3132	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83628	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195265003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536747	biolink:NamedThing			mondoexuq1wtf																														
DOID:2338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917796	biolink:NamedThing			mondoexuq1wtf																														
DOID:893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704417	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227118	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485405	biolink:NamedThing			mondoexuq1wtf																														
DOID:13381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764791008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11071001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854018	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69244009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192605	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537972	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:164823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611886	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194811003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70070008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59350003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397008008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677601	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021347	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:CN226817	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003576	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0154866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719096006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030568	biolink:NamedThing			mondoexuq1wtf																														
DOID:5585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726606003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111453	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080257	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675462	biolink:NamedThing			mondoexuq1wtf																														
DOID:7549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105980002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN737163	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402694007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724227000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309279	biolink:NamedThing			mondoexuq1wtf																														
DOID:10792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394527003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118614007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71203	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93946	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51409009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236531005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30188007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310640	biolink:NamedThing			mondoexuq1wtf																														
DOID:3969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230493001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36985004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3519007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190353001	biolink:NamedThing			mondoexuq1wtf																														
DOID:6053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1847009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851482	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193833008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80006005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3178770	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83793004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410793008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254746	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002430	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363470000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254131007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1168291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188292007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66489009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394728005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562790	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92385005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041316	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193590000	biolink:NamedThing			mondoexuq1wtf																														
DOID:507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60103007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205573006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538174	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190912004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723583009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238578002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205502002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000310	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275471	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155031004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448915004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562462	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3693482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65017003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278044006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3610	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766759009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189117002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080208	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422833009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88037009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733034007	biolink:NamedThing			mondoexuq1wtf																														
DOID:14692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194959002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071718	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410058007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192578006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195832000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75210008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809320	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931189	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40089	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206988	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97978	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519847	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564676	biolink:NamedThing			mondoexuq1wtf																														
DOID:4737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192858005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71011005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931042	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238770007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:835009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868390	biolink:NamedThing			mondoexuq1wtf																														
DOID:6514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154971002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195085006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702375004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399709001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1522446	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37896002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609581006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1955629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111910009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111253	biolink:NamedThing			mondoexuq1wtf																														
DOID:10763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118932009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397568004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722431007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1507149	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734990008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154553002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45816000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79484	biolink:NamedThing			mondoexuq1wtf																														
DOID:12170	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203818	biolink:NamedThing			mondoexuq1wtf																														
DOID:8864	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255338002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567027	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10060008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26650005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709289008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011618	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238030005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002537	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65883009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719837003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85007004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193380009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196266006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842030	biolink:NamedThing			mondoexuq1wtf																														
DOID:869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607893	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203082005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204808002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91478007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21857006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847554	biolink:NamedThing			mondoexuq1wtf																														
DOID:1587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56165008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125591	biolink:NamedThing			mondoexuq1wtf																														
DOID:13498	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024792	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195347004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398870000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190121004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:595133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409664000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16741004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51742006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535335	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852937	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020526	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255015006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46177005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267560004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614335	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271544006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302853003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413537009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011277	biolink:NamedThing	obsolete leukoregulin		mondoexuq1wtf	leukoregulin									True		OMIM:602994																		owl:Class
http://identifiers.org/omim/602994	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566766	biolink:NamedThing			mondoexuq1wtf																														
DOID:3318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329324	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266245009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37981002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849408	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4512054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724091002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267838007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188628007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83473	biolink:NamedThing			mondoexuq1wtf																														
DOID:3842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL448379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162631	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74998	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018040	biolink:NamedThing	obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells		mondoexuq1wtf						This is a grouping class from Orphanet that only had a single child, and was undefined.	MONDO_0003947			True		Orphanet:331240														https://github.com/monarch-initiative/mondo/issues/1667				owl:Class
ORPHA:331240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128812005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202306	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73399005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7757	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403991009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853371	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016320	biolink:NamedThing	obsolete rare hereditary thrombophilia		mondoexuq1wtf		MONDO:outOfScope					ICD10:D68.5			True		Orphanet:217454|UMLS:C2584620														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:D012080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266545005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152954	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239138008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271939006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6342	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74162007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342784	biolink:NamedThing			mondoexuq1wtf																														
DOID:10187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206627	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268389	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187105008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007787	biolink:NamedThing			mondoexuq1wtf																														
DOID:1910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342410	biolink:NamedThing			mondoexuq1wtf																														
DOID:14150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518725	biolink:NamedThing			mondoexuq1wtf																														
DOID:4436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720977000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187717004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149887	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187764004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:243761	biolink:NamedThing			mondoexuq1wtf																														
DOID:7583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77602000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150898	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41430	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274100004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23986001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370127	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278800	biolink:NamedThing			mondoexuq1wtf																														
DOID:13134	biolink:NamedThing			mondoexuq1wtf																														
DOID:2139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254114000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1232	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014717	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26925	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C173542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91967007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722034006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3516	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1621824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673913	biolink:NamedThing			mondoexuq1wtf																														
DOID:10203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4020703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3341	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751267	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194373002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154501005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110362	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28882002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126600002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733599009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853555	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75496	biolink:NamedThing			mondoexuq1wtf																														
DOID:13452	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536751	biolink:NamedThing			mondoexuq1wtf																														
DOID:4791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79214	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3872695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43526	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55525008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200482	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930970	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154581008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012634	biolink:NamedThing			mondoexuq1wtf																														
DOID:4618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83482000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060676	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114065	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190811005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127907	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72880002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41183007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C146899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836033	biolink:NamedThing			mondoexuq1wtf																														
DOID:9407	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4734	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1827377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3460	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717254007	biolink:NamedThing			mondoexuq1wtf																														
DOID:7293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193047	biolink:NamedThing			mondoexuq1wtf																														
DOID:2748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198246007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015857	biolink:NamedThing	obsolete rare non-malformative gynecologic or obstetric disease		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:180199|UMLS:CN200458														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:34831003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2698658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206185	biolink:NamedThing			mondoexuq1wtf																														
DOID:4756	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003555	biolink:NamedThing			mondoexuq1wtf																														
DOID:6858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46795000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719249005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029513	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018344	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111036	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012514	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012373	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716740009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189555001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154666006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232253005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715482004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276140	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067807	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400021	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021286	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:724274009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193957009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856893	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93837005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4529	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197755007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516406	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020264	biolink:NamedThing	obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly		mondoexuq1wtf										True		Orphanet:98694																		owl:Class
SNOMEDCT:154609001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7904	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99865	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2420	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616371	biolink:NamedThing			mondoexuq1wtf																														
DOID:9008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111509007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267509000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195295006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31826	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36979006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060171	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134176000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617035	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0547054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134152008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197957005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231527003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0604085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677132	biolink:NamedThing			mondoexuq1wtf																														
DOID:10443	biolink:NamedThing			mondoexuq1wtf																														
DOID:11997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57130002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15750009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198972006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN818986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194982000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618135	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191003005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93762003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417607009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267633000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44509000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2981140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2131	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23585005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372109003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1967	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197611005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726723004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6020002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290244	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254942002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610069	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182124	biolink:NamedThing			mondoexuq1wtf																														
DOID:1460	biolink:NamedThing			mondoexuq1wtf																														
DOID:1392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279757	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196600005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565673	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196490009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268350005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070132	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35619	biolink:NamedThing			mondoexuq1wtf																														
DOID:3279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150412	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40149008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499107	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050963	biolink:NamedThing			mondoexuq1wtf																														
DOID:6419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267643002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73219006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230248006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20411005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155402009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268568	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265450	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163678	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236532003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266668007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44274007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191316002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186845009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22440001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003081	biolink:NamedThing			mondoexuq1wtf																														
DOID:12084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764965000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026618	biolink:NamedThing			mondoexuq1wtf																														
DOID:5614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187490000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618801	biolink:NamedThing			mondoexuq1wtf																														
DOID:4680	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851443	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2938935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2394	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111302	biolink:NamedThing			mondoexuq1wtf																														
DOID:11656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10170007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204509001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703827008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4598	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4072980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129655003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73911003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363958	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50944	biolink:NamedThing			mondoexuq1wtf																														
DOID:6335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16576004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124056	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4013949	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848138	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702363009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197784003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866649	biolink:NamedThing			mondoexuq1wtf																														
DOID:6530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865019	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014335	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300673	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390726000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0596366	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566366	biolink:NamedThing			mondoexuq1wtf																														
DOID:4702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198897009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858084	biolink:NamedThing			mondoexuq1wtf																														
DOID:9461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93765001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1929004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233726000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155375	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1253	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931788	biolink:NamedThing			mondoexuq1wtf																														
DOID:13919	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537829	biolink:NamedThing			mondoexuq1wtf																														
DOID:7132	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537912	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189683008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C46008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150933	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058527	biolink:NamedThing			mondoexuq1wtf																														
DOID:4633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809819	biolink:NamedThing			mondoexuq1wtf																														
DOID:9847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125705	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127014009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84672	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060861	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10055046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58950002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27590	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40358	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276809004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23006000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020433	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155656006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300804	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34744	biolink:NamedThing			mondoexuq1wtf																														
DOID:4638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193943007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128786009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9042000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703527003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201161009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038505	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016905	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615988	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662487	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29384001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80659006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82636008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48292007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196583001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35707	biolink:NamedThing			mondoexuq1wtf																														
DOID:13658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861897	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58262005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436159	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345975	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14911005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0947770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029785	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0025169	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C4643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154701	biolink:NamedThing			mondoexuq1wtf																														
DOID:6110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115242003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371965009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025637	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189537005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158300	biolink:NamedThing			mondoexuq1wtf																														
DOID:11060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154878007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454714	biolink:NamedThing			mondoexuq1wtf																														
DOID:7818	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231935005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3470075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139589	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266486000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86817	biolink:NamedThing			mondoexuq1wtf																														
DOID:2743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189909006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117210	biolink:NamedThing			mondoexuq1wtf																														
DOID:5744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84772	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2496	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725418006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82661006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189210009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400080004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190747003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0455988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367187006	biolink:NamedThing			mondoexuq1wtf																														
DOID:285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42725006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000591739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186885003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244562	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70534000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197962006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11817007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4331312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188744006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050650	biolink:NamedThing			mondoexuq1wtf																														
DOID:5142	biolink:NamedThing			mondoexuq1wtf																														
DOID:7998	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245349	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809910	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235630008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254931006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373420004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187855003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198458005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675516	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809691	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32296002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86893	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832399	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:376724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29070004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852372	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049912	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536477	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567847	biolink:NamedThing			mondoexuq1wtf																														
DOID:8138	biolink:NamedThing			mondoexuq1wtf																														
DOID:13088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49723003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363359008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405950009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156677003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409663006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404038007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:178935009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92446002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30915001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609576002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194270001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857069	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398777	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85222	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845919	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193399000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62599000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23536000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4258	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254229006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397946	biolink:NamedThing			mondoexuq1wtf																														
DOID:6175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359686005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155340008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059270	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128117002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090028	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346773	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:117569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203123000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499096	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182040	biolink:NamedThing			mondoexuq1wtf																														
MESH:C571911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29718007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53654007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:265798000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931424	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193317004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46382007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:223726008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139356000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99079	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272849	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044278	biolink:NamedThing	obsolete short sleeper	In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset.	mondoexuq1wtf	short sleep phenotype|short sleeper					Obsoleted as it represents a trait or is a legacy entry				True		OMIMPS:612975																		owl:Class
UMLS:C0751509	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564011	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722383001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020192	biolink:NamedThing	obsolete rare lacrimal system disease	Any of the forms of lacrimal apparatus disease that have a rare incidence.	mondoexuq1wtf	rare lacrimal apparatus disease			MONDO:0001854			UMLS:C0022904			True		Orphanet:98602														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:721736003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234700	biolink:NamedThing			mondoexuq1wtf																														
DOID:12132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97295	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111766	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1882062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723360007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126996004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:58	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7573000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402479002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264856	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80512	biolink:NamedThing			mondoexuq1wtf																														
DOID:3417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN429988	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000843	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:238044004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865951	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180154	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419097006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029841	biolink:NamedThing			mondoexuq1wtf																														
DOID:718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396347007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196360003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65460003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231946008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619075	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044253	biolink:NamedThing	obsolete dermatoglyphics--palmar triradius d, absence of		mondoexuq1wtf	dermatoglyphics--palmar triradius d, absence of					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:221760																		owl:Class
UMLS:C1857329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566466	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005248	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:228360	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202280	biolink:NamedThing			mondoexuq1wtf																														
DOID:7340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050624	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007057	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050480	biolink:NamedThing			mondoexuq1wtf																														
DOID:6948	biolink:NamedThing			mondoexuq1wtf																														
DOID:2755	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607821	biolink:NamedThing			mondoexuq1wtf																														
DOID:11227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254720009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42059000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200767005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536984	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399091004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187152002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155928003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079102	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715798007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567379	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99710	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810404	biolink:NamedThing			mondoexuq1wtf																														
DOID:5093	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34685	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607152	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050072	biolink:NamedThing			mondoexuq1wtf																														
MESH:C544351	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207072	biolink:NamedThing			mondoexuq1wtf																														
DOID:3298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50721	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92696009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536317	biolink:NamedThing			mondoexuq1wtf																														
DOID:14780	biolink:NamedThing			mondoexuq1wtf																														
DOID:2942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191962000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188605006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808739	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154947009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28295001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89796001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855735	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/415000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207067	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064911	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600625	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233878008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191836005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189926000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050834	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27090000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:40	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226149	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225236	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398187000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59818004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239826001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520477	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255022003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718755009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206789002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700489002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1785148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269649008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95281009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3473	biolink:NamedThing			mondoexuq1wtf																														
DOID:9248	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254632001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56688005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359767009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841825	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389991004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029805	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27649	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496758	biolink:NamedThing			mondoexuq1wtf																														
DOID:11637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193427006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:16	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600802	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009401	biolink:NamedThing			mondoexuq1wtf																														
DOID:13038	biolink:NamedThing			mondoexuq1wtf																														
DOID:1138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202591	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3455	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268318000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309776008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3874	biolink:NamedThing			mondoexuq1wtf																														
DOID:9255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200764003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722343009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35480	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019048	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014501	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110078	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3899655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50076003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN181337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254728002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498474	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230155003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54734006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189885004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187800	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024381	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563403	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85049	biolink:NamedThing			mondoexuq1wtf																														
DOID:14145	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186225008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020732	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111604	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214400	biolink:NamedThing			mondoexuq1wtf																														
DOID:4183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085164	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806412	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563592	biolink:NamedThing			mondoexuq1wtf																														
DOID:2752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128709000	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018336	biolink:NamedThing	obsolete Silver-Russell syndrome due to a point mutation		mondoexuq1wtf						We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome.	MONDO:0008394			True		ICD10:Q87.1|UMLS:CN225933|Orphanet:397590														https://github.com/monarch-initiative/mondo/issues/1842				owl:Class
ORPHA:182121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023138	biolink:NamedThing			mondoexuq1wtf																														
DOID:6484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276203008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018246	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562889	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010229	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32456001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397923000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2025557	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363499005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60968001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193267009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203770	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518723	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN262497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721091003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715534008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235753003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617610	biolink:NamedThing			mondoexuq1wtf																														
DOID:9505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20667008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C47857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190003004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723552005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616592	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838420	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397803000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11851006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237963003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715216008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002882	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150874	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190764000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188365003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:712525007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267759006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931241	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126920004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253283000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834846	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147540	biolink:NamedThing			mondoexuq1wtf																														
DOID:10499	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C543241	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306995	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276202003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94065000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191627008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580130	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721843003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722207000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600962	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:738526005	biolink:NamedThing			mondoexuq1wtf																														
DOID:14483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041327	biolink:NamedThing			mondoexuq1wtf																														
DOID:13402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011633	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C157569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931836	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387732009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206362009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019318	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019969	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193773009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312005008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193824006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300988009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417006004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154746009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158320000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413846005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850332	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:442582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68419	biolink:NamedThing			mondoexuq1wtf																														
DOID:4271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969836	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766761000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200189	biolink:NamedThing			mondoexuq1wtf																														
DOID:2150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724999003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110976	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94524	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193673000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763691008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86841	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567024	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85791004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856818	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266255008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835359	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191159002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32913002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:379	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3016	biolink:NamedThing			mondoexuq1wtf																														
DOID:5419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766934006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261229	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050821	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119752	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564382	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564770	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:237	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027555	biolink:NamedThing			mondoexuq1wtf																														
DOID:7689	biolink:NamedThing			mondoexuq1wtf																														
DOID:13956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92546004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129875	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:17	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717330004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849927	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615387	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237914002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270884000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3668943	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563402	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367649002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716337006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300219	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4537	biolink:NamedThing			mondoexuq1wtf																														
DOID:4377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65976001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26328002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187821001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267337006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65074000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832231	biolink:NamedThing			mondoexuq1wtf																														
DOID:1787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613287	biolink:NamedThing			mondoexuq1wtf																														
DOID:9827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154081	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050820	biolink:NamedThing			mondoexuq1wtf																														
DOID:7522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124220008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191608002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398114001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564190	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61261009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35691006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40527005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702369008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154810008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247830007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95461	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203988	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732961003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:166702002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154457003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405770005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607641	biolink:NamedThing			mondoexuq1wtf																														
DOID:1586	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111011	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150942	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441551009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152013	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60130002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018776	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444	biolink:NamedThing			mondoexuq1wtf																														
DOID:11179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410049000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187741001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840529	biolink:NamedThing			mondoexuq1wtf																														
DOID:11401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29094004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266010	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601759	biolink:NamedThing			mondoexuq1wtf																														
DOID:13316	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0240912	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678262	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002340	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566151	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186362008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716090004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142625	biolink:NamedThing			mondoexuq1wtf																														
DOID:2433	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443287	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080198	biolink:NamedThing			mondoexuq1wtf																														
DOID:3261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4522164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405769009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307591004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017980	biolink:NamedThing			mondoexuq1wtf																														
DOID:11608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35912001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239082002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022374	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139426	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128782006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84114007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267418001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195355006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049328	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235675006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33076008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN235466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2684859	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN368509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305323	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27215002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142805	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1639520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0442893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1807	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000915	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0153604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35068	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443648003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93145002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155198005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268410	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441944007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716663009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/545000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444755001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931106	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001984	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564622	biolink:NamedThing			mondoexuq1wtf																														
DOID:4962	biolink:NamedThing			mondoexuq1wtf																														
DOID:8553	biolink:NamedThing			mondoexuq1wtf																														
DOID:6016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717008005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C161542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427685000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187393002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267698007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722947004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1531719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225692	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155604003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59282003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013285	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43941006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603595	biolink:NamedThing			mondoexuq1wtf																														
DOID:3968	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060765	biolink:NamedThing			mondoexuq1wtf																														
DOID:1766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853153	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619272	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237881004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397977001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335448	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612372	biolink:NamedThing			mondoexuq1wtf																														
DOID:9771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31150	biolink:NamedThing			mondoexuq1wtf																														
DOID:13036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112681002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194879006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070100	biolink:NamedThing			mondoexuq1wtf																														
DOID:9432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98609	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080052	biolink:NamedThing			mondoexuq1wtf																														
DOID:8472	biolink:NamedThing			mondoexuq1wtf																														
DOID:11787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1207009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332188	biolink:NamedThing			mondoexuq1wtf																														
DOID:526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6237	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537614	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239945009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154312006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232049001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:215	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231413	biolink:NamedThing			mondoexuq1wtf																														
DOID:1405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601668	biolink:NamedThing			mondoexuq1wtf																														
MESH:C570377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413936007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2717	biolink:NamedThing			mondoexuq1wtf																														
MESH:D025861	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1394891	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566453	biolink:NamedThing			mondoexuq1wtf																														
DOID:13196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237971004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190634004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191646009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86489003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238001003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4874	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015875	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255187008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235894003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851536	biolink:NamedThing			mondoexuq1wtf																														
DOID:9503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186994008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203119008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173200	biolink:NamedThing			mondoexuq1wtf																														
DOID:6469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603629	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155082001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367461002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080195	biolink:NamedThing			mondoexuq1wtf																														
DOID:2647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751814	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809104	biolink:NamedThing			mondoexuq1wtf																														
DOID:1227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230365004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235880	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002305	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/553000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34520	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015512	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2739	biolink:NamedThing			mondoexuq1wtf																														
DOID:2671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191201002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269503007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93606	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750825	biolink:NamedThing			mondoexuq1wtf																														
DOID:10375	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2299	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536831	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194421002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2935	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128606002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201037	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203261	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015651	biolink:NamedThing			mondoexuq1wtf																														
DOID:7945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393598	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857964	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6165	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421961002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2959918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3019	biolink:NamedThing			mondoexuq1wtf																														
DOID:13942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93735006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90678009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40055000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47761007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614298	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887689	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619124	biolink:NamedThing			mondoexuq1wtf																														
DOID:7389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336913	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168577	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171898	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423294001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42574005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404663008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56819008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193879003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615328	biolink:NamedThing			mondoexuq1wtf																														
DOID:6977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612475	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042560	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410429000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195152001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110912	biolink:NamedThing			mondoexuq1wtf																														
DOID:5844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243320	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5166	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196709002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186968004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38683003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129623003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20052008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878683	biolink:NamedThing			mondoexuq1wtf																														
DOID:4804	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010017	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254788004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1913007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2910138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238534006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017701	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699948001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154417001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201619	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237900002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1641846	biolink:NamedThing			mondoexuq1wtf																														
DOID:11502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34403	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110227	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403762003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238045003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014127	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1438	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111384	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197212009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98427	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2746083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189793008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84623	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54209007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720753002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157917	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566595	biolink:NamedThing			mondoexuq1wtf																														
DOID:9007	biolink:NamedThing			mondoexuq1wtf																														
DOID:9395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444231005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27409	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155265007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060851	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860849	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35800	biolink:NamedThing			mondoexuq1wtf																														
DOID:5897	biolink:NamedThing			mondoexuq1wtf																														
DOID:3347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN163181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25658005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233843008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39866	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615989	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89444000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116860	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763867001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:866	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4509819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187723009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018891	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240072005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235510	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221061	biolink:NamedThing			mondoexuq1wtf																														
DOID:8970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617770	biolink:NamedThing			mondoexuq1wtf																														
DOID:5128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607259	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014567	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92612007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060108	biolink:NamedThing			mondoexuq1wtf																														
DOID:4071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268749	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763739002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/557000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930901	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11772001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61026006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57436000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722020006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255089009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202073005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:441447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65286	biolink:NamedThing			mondoexuq1wtf																														
DOID:7614	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447888006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032357	biolink:NamedThing			mondoexuq1wtf																														
DOID:10825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307537002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051456	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1568247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155044009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155877	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189735004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5713	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4970	biolink:NamedThing			mondoexuq1wtf																														
DOID:1588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4305004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189940004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268451	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80711002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750090	biolink:NamedThing			mondoexuq1wtf																														
DOID:47	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26709	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086626	biolink:NamedThing			mondoexuq1wtf																														
DOID:10603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268426	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854520	biolink:NamedThing			mondoexuq1wtf																														
DOID:2402	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142970009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719519007	biolink:NamedThing			mondoexuq1wtf																														
DOID:138	biolink:NamedThing			mondoexuq1wtf																														
DOID:8353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128596003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19442009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189178001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267521001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340834	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030345	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279610	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119291004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837026	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154347003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838332	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442543009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195936003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011711	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3063	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58459009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835494	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111686	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851957	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155553007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0565831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:989	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1178005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225286	biolink:NamedThing			mondoexuq1wtf																														
DOID:2253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248404	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153373	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262065	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056886	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018391	biolink:NamedThing			mondoexuq1wtf																														
DOID:6033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931659	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36958006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153518	biolink:NamedThing			mondoexuq1wtf																														
DOID:7915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266323005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717337001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4411	biolink:NamedThing			mondoexuq1wtf																														
DOID:10688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043124	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703539006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192098008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67383	biolink:NamedThing			mondoexuq1wtf																														
DOID:3613	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226858	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154649009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0518988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707673006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90821003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50776006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98621	biolink:NamedThing			mondoexuq1wtf																														
DOID:5445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166299	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190858002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253590009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183487	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156316	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036489	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002276	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060226	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126832004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851998	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300509	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237737	biolink:NamedThing			mondoexuq1wtf																														
DOID:3327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930792	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5937	biolink:NamedThing			mondoexuq1wtf																														
DOID:9477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45853006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89188001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423793008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750091	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536626	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34794	biolink:NamedThing			mondoexuq1wtf																														
DOID:4676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45864009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969052	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021376	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0111191	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39966	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720576001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0011204	biolink:NamedThing	obsolete cerebellar degeneration-related autoantigen 3		mondoexuq1wtf	cerebellar degeneration-related autoantigen 3|cerebellar Degeneration-related autoantigen type 3|Cdr3					This is not a disease.				True		OMIM:602197														https://github.com/monarch-initiative/mondo/issues/2522				owl:Class
UMLS:C1865782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293967	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:758664007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302843004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39000009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5299007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198170004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718716008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221	biolink:NamedThing			mondoexuq1wtf																														
DOID:5731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135220	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3357	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333377	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:227588009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90647	biolink:NamedThing			mondoexuq1wtf																														
DOID:758	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1635	biolink:NamedThing			mondoexuq1wtf																														
DOID:6871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239895006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206743	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190625009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931513	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198881004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153174	biolink:NamedThing			mondoexuq1wtf																														
DOID:4415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537754	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070083	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71518	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145260	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000599	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158230006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238747004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763616002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722132007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019263	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99810	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189840000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133742	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166430	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006871	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83470009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733492003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1350	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN130080	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50438001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44054006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111540000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157965	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199257	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608907	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604154	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121751	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060284	biolink:NamedThing			mondoexuq1wtf																														
DOID:2710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282513	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN069618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189925001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156398007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86907008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614929	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44323002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466658	biolink:NamedThing			mondoexuq1wtf																														
DOID:2033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776822	biolink:NamedThing			mondoexuq1wtf																														
DOID:2877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302827006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275485006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3976	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042174	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236412002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84607	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601238	biolink:NamedThing			mondoexuq1wtf																														
DOID:13945	biolink:NamedThing			mondoexuq1wtf																														
DOID:7095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3668942	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230599000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085388	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527306	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110563	biolink:NamedThing			mondoexuq1wtf																														
DOID:10287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226594	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014802	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55602000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718196002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763128009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402782006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717232005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34843	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111556	biolink:NamedThing			mondoexuq1wtf																														
DOID:2718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238036004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266057	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271742	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193431000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39011001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9091	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8545	biolink:NamedThing			mondoexuq1wtf																														
DOID:5752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1175175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346109	biolink:NamedThing			mondoexuq1wtf																														
DOID:8691	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0025190	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:10525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71676008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98562	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:543470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399054005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84545	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268049000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716588005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70323002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537939	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015869	biolink:NamedThing	obsolete rare benign breast tumor	Any of the forms of breast benign neoplasm that have a rare incidence.	mondoexuq1wtf	rare breast benign neoplasm			MONDO:0000620			UMLS:C0346156			True		Orphanet:180253														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
SNOMEDCT:720857006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535882	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537709	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268315002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84534	biolink:NamedThing			mondoexuq1wtf																														
DOID:3911	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005706	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535935	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99647	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567555	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293925	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013398	biolink:NamedThing			mondoexuq1wtf																														
DOID:4407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190033006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267145	biolink:NamedThing			mondoexuq1wtf																														
DOID:1284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615841	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021922	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715395008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30652003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2632	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853509	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003323	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0016756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615863	biolink:NamedThing			mondoexuq1wtf																														
DOID:10325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248299001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190931005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428054006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61974008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90635	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751696	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562524	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34579	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187768001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867396	biolink:NamedThing			mondoexuq1wtf																														
DOID:8125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191769004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9313	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010439	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156481008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713577007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264530000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88975006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175900	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85551004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359729006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13794	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050869	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73284007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269506004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:735082004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850126	biolink:NamedThing			mondoexuq1wtf																														
DOID:14089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56565002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79113	biolink:NamedThing			mondoexuq1wtf																														
DOID:1080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414667000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113750	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0041008	biolink:NamedThing	obsolete contact dermatitis caused by poison oak		mondoexuq1wtf	contact dermatitis due to poison oak|contact dermatitis caused by poison oak									True		UMLS:C0263283|SCTID:200824008																		owl:Class
UMLS:C0263283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97355	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020011	biolink:NamedThing	obsolete rare headache disorder	Rare headache disorder.	mondoexuq1wtf	rare headache disorder|rare headache			MONDO:0021146			UMLS:C0393735			True		Orphanet:98022														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:13250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231861005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267462005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294057	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722280000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237802009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026857	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198150005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129459004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613708	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562419	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080098	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001727	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198210003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733522005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194499008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26816	biolink:NamedThing			mondoexuq1wtf																														
DOID:7679	biolink:NamedThing			mondoexuq1wtf																														
DOID:1738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93976007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010859	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194375009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57725006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189951004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969092	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199493	biolink:NamedThing			mondoexuq1wtf																														
DOID:1518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236663	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18140003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202834009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015424	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000804	biolink:NamedThing	obsolete white shrimp allergy	A allergy involving a Litopenaeus schmitti.	mondoexuq1wtf	Litopenaeus schmitti allergic disease|Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti	MONDO:outOfScope								True		DOID:0060529														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193364004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268747005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718178006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9399000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198018002	biolink:NamedThing			mondoexuq1wtf																														
DOID:997	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020871	biolink:NamedThing	obsolete name syndrome		mondoexuq1wtf				MONDO:0015285						True		Orphanet:623																		owl:Class
ORPHA:623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050837	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606391	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253149002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:668	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279547	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948638	biolink:NamedThing			mondoexuq1wtf																														
DOID:6245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187234008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277807007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253330006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3783	biolink:NamedThing			mondoexuq1wtf																														
DOID:5900	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:512	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6510	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239118007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53664003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864733	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060545	biolink:NamedThing			mondoexuq1wtf																														
DOID:6553	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267480001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58756001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197415009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4227	biolink:NamedThing			mondoexuq1wtf																														
DOID:14550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861057	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730328	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194886003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619027	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187884007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050523	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608097	biolink:NamedThing			mondoexuq1wtf																														
DOID:6944	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278147	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608930	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843013	biolink:NamedThing			mondoexuq1wtf																														
DOID:8108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202019004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188363005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30967002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4048809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201046006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278804	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50926003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536221	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236713006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715568002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253986002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3661979	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302954008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121618	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676834	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563698	biolink:NamedThing			mondoexuq1wtf																														
DOID:14415	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0519063	biolink:NamedThing			mondoexuq1wtf																														
DOID:8545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862260	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832510	biolink:NamedThing			mondoexuq1wtf																														
DOID:6935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404662003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187651005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43116000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615414	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011024	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050940	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84535	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393566004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027927	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1421143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39471001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302859	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78537008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002822	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393538	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020370	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719688002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700060008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722435003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678151	biolink:NamedThing			mondoexuq1wtf																														
DOID:8927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703655009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716773002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274297	biolink:NamedThing			mondoexuq1wtf																														
DOID:8224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228917	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234497	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26738	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020325	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003324	biolink:NamedThing			mondoexuq1wtf																														
DOID:4553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3510	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190856003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716741008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423673009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716198008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153461	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26764	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189783001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427999003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92747005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239132009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76304001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748803	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111396008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607596	biolink:NamedThing			mondoexuq1wtf																														
DOID:14227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267842	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617571	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372117006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192668002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1164	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750733	biolink:NamedThing			mondoexuq1wtf																														
DOID:8150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306666	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564482	biolink:NamedThing			mondoexuq1wtf																														
DOID:2544	biolink:NamedThing			mondoexuq1wtf																														
DOID:4692	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2679	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33258008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677091	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8310	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194352002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332578	biolink:NamedThing			mondoexuq1wtf																														
DOID:6787	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010323	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715826005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060173	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188044004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52947006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763743003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194613002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52979002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404538	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021362	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C5193105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155982004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151379	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201053002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN807948	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056988	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060129	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199250	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511312	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36923009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278453007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238002005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95409	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44219007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7138	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673195	biolink:NamedThing			mondoexuq1wtf																														
DOID:11242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28975000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN317536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26018001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603439	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020224	biolink:NamedThing	obsolete rare cataract	Rare cataract.	mondoexuq1wtf	rare cataract|rare cataract (disease)			MONDO:0005129			UMLS:C0086543			True		Orphanet:98640														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309155	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565498	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126961004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:555402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266325003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189986002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39821	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26689	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203954	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95678007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864446	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154387008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127962001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3384	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40296	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109620006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116364	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88639	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562740	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204783004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194080005	biolink:NamedThing			mondoexuq1wtf																														
DOID:12637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425231005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0442835	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367435001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85659009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74181004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230372003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391641	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0598798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228550	biolink:NamedThing			mondoexuq1wtf																														
DOID:6204	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82319005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254871	biolink:NamedThing			mondoexuq1wtf																														
DOID:8050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1514	biolink:NamedThing			mondoexuq1wtf																														
DOID:7518	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699346009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4525405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440987	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553936	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046589	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050705	biolink:NamedThing			mondoexuq1wtf																														
DOID:916	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060065	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698251009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251595	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1648002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537823	biolink:NamedThing			mondoexuq1wtf																														
DOID:5789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35426003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162855	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39789	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111473	biolink:NamedThing			mondoexuq1wtf																														
DOID:12179	biolink:NamedThing			mondoexuq1wtf																														
DOID:3325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253212001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158362	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027789	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0429087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255046005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4531264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363469001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53602002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276258	biolink:NamedThing			mondoexuq1wtf																														
DOID:6581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722849002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72275000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008441	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204521002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2349425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237943005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89439007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95315005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:213026003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196119001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456167	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009304	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090092	biolink:NamedThing			mondoexuq1wtf																														
DOID:13868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28867007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19242006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564738	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98130	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056806	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342803	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017544	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837616	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448710000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195361009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314918	biolink:NamedThing			mondoexuq1wtf																														
DOID:5443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496769	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6935	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73583000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:670553017	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37283009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276902	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305550	biolink:NamedThing			mondoexuq1wtf																														
DOID:11481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93755007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745953	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251598	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022856	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C35709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73371000119103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60368009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384416	biolink:NamedThing			mondoexuq1wtf																														
DOID:1974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12045002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211355	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205769	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3786	biolink:NamedThing			mondoexuq1wtf																														
DOID:5566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:592	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837152	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237113009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72129000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888385	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699861000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866077	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1535942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423997002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:422	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93474003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195784004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193027	biolink:NamedThing			mondoexuq1wtf																														
DOID:5429	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763529005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67536000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111798006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414024009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155179	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050572	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009245	biolink:NamedThing	obsolete Friedreich ataxia		mondoexuq1wtf				MONDO:0100339						True																https://github.com/monarch-initiative/mondo/issues/2807				owl:Class
UMLS:C2746066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352456	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:580572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187756005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79261008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1541844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011926	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47891005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253018005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335324	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266312006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188754005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716089008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227177	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3161	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562393	biolink:NamedThing			mondoexuq1wtf																														
DOID:5104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277170	biolink:NamedThing			mondoexuq1wtf																														
DOID:8567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192916006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060694	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155222006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111164	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59227007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128847002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:310050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254351	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565951	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1422	biolink:NamedThing			mondoexuq1wtf																														
DOID:1702	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419237004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4545992	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190738006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233917008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023097	biolink:NamedThing	obsolete exostoses anetodermia brachydactyly type E		mondoexuq1wtf										True		GARD:0002202														https://github.com/monarch-initiative/mondo/issues/405				owl:Class
ORPHA:2858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276183	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79718	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155856009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602429	biolink:NamedThing			mondoexuq1wtf																														
DOID:7233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207046	biolink:NamedThing			mondoexuq1wtf																														
DOID:10044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719979008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864996	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155323004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060272	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63122002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027877	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500188	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193240003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840225	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56573006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253109005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205484001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98855	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262083	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014096	biolink:NamedThing			mondoexuq1wtf																														
DOID:2316	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253083007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188772004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717765001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194195009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425127006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716699004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044263	biolink:NamedThing	obsolete lutheran suppressor, x-linked	An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420.	mondoexuq1wtf	LuxS|Lutheran suppressor, X-linked|XS					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:12837																		owl:Class
UMLS:C3887995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193870004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021807	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110819	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92470003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336904	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100048	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42080	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263049	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060046	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070312	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016252	biolink:NamedThing	obsolete rare uterine cancer	Rare uterine cancer.	mondoexuq1wtf	rare uterine cancer|rare malignant tumor of uterus|rare cancer of uterus|rare uterine malignant tumor			MONDO:0002715			UMLS:C0153567			True		Orphanet:213564														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:213564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206448	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604324	biolink:NamedThing			mondoexuq1wtf																														
DOID:5299	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267578009	biolink:NamedThing			mondoexuq1wtf																														
DOID:12211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3537017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566954	biolink:NamedThing			mondoexuq1wtf																														
DOID:12641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153942	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203300	biolink:NamedThing			mondoexuq1wtf																														
DOID:1508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128091003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206317005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192514003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99981	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95544006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85228003	biolink:NamedThing			mondoexuq1wtf																														
DOID:6692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203923004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110773	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496765	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720511000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200089	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232039004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:513436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155107006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156111007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187727005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019410	biolink:NamedThing	obsolete nodulosis-arthropathy-osteolysis syndrome		mondoexuq1wtf	NAO syndrome|multicentric osteolysis-nodulosis-arthropathy syndrome					Obsolete in Orphanet	MONDO:0018298			True		ICD10:M89.5|Orphanet:85196|UMLS:CN206138																		owl:Class
UMLS:CN206138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192104004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267376007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718105008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716108004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565302	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015441	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281217	biolink:NamedThing			mondoexuq1wtf																														
DOID:13938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188564003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253170008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310623	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190789006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718880003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88213004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27495	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244567	biolink:NamedThing			mondoexuq1wtf																														
DOID:2682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206378	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194718003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194790006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91051003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154787005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80098002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399469000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193461008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673196	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707355002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717042001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564574	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237678	biolink:NamedThing			mondoexuq1wtf																														
DOID:5050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715406003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300422	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275758	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68366	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93917007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156430003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286737005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93748005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110111	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070069	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537902	biolink:NamedThing			mondoexuq1wtf																														
DOID:3534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4317112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237682	biolink:NamedThing			mondoexuq1wtf																														
DOID:8508	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85173	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93851005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238627002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57181007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449908004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87364003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42175004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188047006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796126	biolink:NamedThing			mondoexuq1wtf																														
DOID:656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158687	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466768	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205200	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017978	biolink:NamedThing	obsolete syndrome with disorder of sex development of gynecological interest		mondoexuq1wtf	syndrome with DSD of gynecological interest					These terms are not used clinically.	MONDO:0002145|MONDO:0001967			True		UMLS:CN204125|Orphanet:325638																		owl:Class
ORPHA:325638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158316	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110070	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187024008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604387	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566451	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156377007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122455	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4024957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225395	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535524	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111016	biolink:NamedThing			mondoexuq1wtf																														
DOID:3319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2350236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39998009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248510	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371067004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197585004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15771000119109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198898004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302812006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34298002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005699	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268273004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242785	biolink:NamedThing			mondoexuq1wtf																														
DOID:657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0728864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23024003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402249007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230496009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845298	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1710111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187863002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399882	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206640	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411501	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99940	biolink:NamedThing			mondoexuq1wtf																														
DOID:4939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187518006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99918	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186228005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203140009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538234	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609039	biolink:NamedThing			mondoexuq1wtf																														
MESH:D033461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186837004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699741	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420422005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004681	biolink:NamedThing			mondoexuq1wtf																														
DOID:1068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277970	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN180200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49949003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1331535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153955	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402526009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111210001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204506	biolink:NamedThing			mondoexuq1wtf																														
DOID:12276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194980008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720465002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129133005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3201	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1416865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59668005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126485001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266044	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608911	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3188003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111383	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300835	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124274002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4810	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5525	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186297007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203392007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67406007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237818	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197935003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27982003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197074008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2826	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238538009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198064007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16031000119101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300424	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371163003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190956004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79135	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158991	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300345	biolink:NamedThing			mondoexuq1wtf																														
MESH:D043202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715562001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540265	biolink:NamedThing			mondoexuq1wtf																														
DOID:10963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:294705005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189564006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699447001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610725	biolink:NamedThing			mondoexuq1wtf																														
DOID:9617	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37231002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126680004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24614000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388981000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343090	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602025	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060957	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425687007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074234	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261279	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154603000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276821000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372064008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27335	biolink:NamedThing			mondoexuq1wtf																														
DOID:7071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65396000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30764004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036807	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118843	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336978	biolink:NamedThing			mondoexuq1wtf																														
DOID:11840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200213	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189954007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92238001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862071	biolink:NamedThing			mondoexuq1wtf																														
DOID:13533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190815001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4330695	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614415	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95797003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674173	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31085000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022482	biolink:NamedThing	obsolete apolipoprotein C 2i deficiency		mondoexuq1wtf				MONDO_0008810						True		GARD:0000759														https://rarediseases.info.nih.gov/diseases/759/apolipoprotein-c-2i-deficiency				owl:Class
UMLS:C0029464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717922007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20815007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721010003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230466004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35264	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31482007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70422006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12631000119106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31568009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718882006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722458000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763349002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025362	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4743	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37265	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040127	biolink:NamedThing			mondoexuq1wtf																														
DOID:13603	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187241002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81903006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82614005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33929001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43453000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720978005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036091	biolink:NamedThing			mondoexuq1wtf																														
DOID:7685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15307001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719456001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609522002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537535	biolink:NamedThing			mondoexuq1wtf																														
DOID:1214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3165062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931492	biolink:NamedThing			mondoexuq1wtf																														
DOID:7575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238610005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83978005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768927001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3716002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48874008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253604004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200693005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169142	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203557	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33316007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5132005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399049001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100026	biolink:NamedThing			mondoexuq1wtf																														
DOID:11603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193816001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308870004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155196009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268316001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289666	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193881001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:583856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009714	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203364002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616839	biolink:NamedThing			mondoexuq1wtf																														
DOID:3447	biolink:NamedThing			mondoexuq1wtf																														
DOID:5438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204511	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018231	biolink:NamedThing			mondoexuq1wtf																														
DOID:6740	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154295005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856055	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98670	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231827008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:438583008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205480005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253001006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29951006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931196	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017976	biolink:NamedThing	obsolete disorder of sex development of gynecological interest		mondoexuq1wtf	DSD of gynecological interest					These terms are not used clinically.	MONDO:0002145|MONDO:0001967			True		UMLS:CN227237|Orphanet:325620																		owl:Class
UMLS:CN227237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301045	biolink:NamedThing			mondoexuq1wtf																														
DOID:8251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615267	biolink:NamedThing			mondoexuq1wtf																														
DOID:5078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333763	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726051002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719466009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68390005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123963007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8563	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110061	biolink:NamedThing			mondoexuq1wtf																														
DOID:4511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060095	biolink:NamedThing			mondoexuq1wtf																														
DOID:11266	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37941009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359761005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253353007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99067	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673469	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268758001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:465508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266123003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2876	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024581	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C5193029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195044001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082762	biolink:NamedThing			mondoexuq1wtf																														
DOID:4479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123853	biolink:NamedThing			mondoexuq1wtf																														
DOID:2780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404026003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252015	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2150	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536857	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3811	biolink:NamedThing			mondoexuq1wtf																														
DOID:13476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204739008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94105000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117360	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567131	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012465	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19044004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200570	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134160009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273800	biolink:NamedThing			mondoexuq1wtf																														
DOID:5344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2976	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110550	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414915002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269596006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718095000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8849004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C68744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0969753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427213005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722057000	biolink:NamedThing			mondoexuq1wtf																														
DOID:848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723334006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270890001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40400	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194725005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188733003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253065004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267988003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404039004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404051002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155238	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012516	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47598005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931816	biolink:NamedThing			mondoexuq1wtf																														
DOID:9065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79217	biolink:NamedThing			mondoexuq1wtf																														
DOID:12217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C154316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155574008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52542005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0225317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609180	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011949	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698021005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858351	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060434	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763110007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416916004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265287	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155040000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123212	biolink:NamedThing			mondoexuq1wtf																														
DOID:10747	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111504002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93938001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343487	biolink:NamedThing			mondoexuq1wtf																														
DOID:9445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196132006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98454	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931088	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4169	biolink:NamedThing			mondoexuq1wtf																														
DOID:1555	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193788004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1364751	biolink:NamedThing			mondoexuq1wtf																														
DOID:3840	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066801	biolink:NamedThing			mondoexuq1wtf																														
DOID:4698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14269005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194280002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284247	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563802	biolink:NamedThing			mondoexuq1wtf																														
DOID:5599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723497003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768666006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230670003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4996001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853941	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276804009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0495523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4072872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35492	biolink:NamedThing			mondoexuq1wtf																														
DOID:10323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079299	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79144	biolink:NamedThing			mondoexuq1wtf																														
DOID:12236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154945001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618317	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536867	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764725008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857314	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303567	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:365563	biolink:NamedThing			mondoexuq1wtf																														
DOID:5729	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34880	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019698	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716232002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211350	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82203000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190787008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254202001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48278001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267645009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40112	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289829	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10030308	biolink:NamedThing			mondoexuq1wtf																														
DOID:6170	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155572007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31537005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187793004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554385	biolink:NamedThing			mondoexuq1wtf																														
DOID:6682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25506007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0863029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10082001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195815004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371979001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612932	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2314896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020538	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186529001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216700	biolink:NamedThing			mondoexuq1wtf																														
DOID:5700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7379000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73119000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5713	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617402	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269599004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78838008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31298003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263858	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050781	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721904001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608448	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618810	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79365	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715192004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72951007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123261002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200940	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33958003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155882000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415112005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719258003	biolink:NamedThing			mondoexuq1wtf																														
DOID:8331	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78576	biolink:NamedThing			mondoexuq1wtf																														
DOID:6785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:99131000119108	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:421529006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83824009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77608001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863533	biolink:NamedThing			mondoexuq1wtf																														
DOID:4209	biolink:NamedThing			mondoexuq1wtf																														
DOID:2213	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702345009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101070	biolink:NamedThing			mondoexuq1wtf																														
DOID:327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403902008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234499005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716592003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124207005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22455005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94147001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126957005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617159	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225337	biolink:NamedThing			mondoexuq1wtf																														
DOID:4001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3765	biolink:NamedThing			mondoexuq1wtf																														
DOID:8805	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060048	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110275	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57920007	biolink:NamedThing			mondoexuq1wtf																														
DOID:7378	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080508	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238208	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156985005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46486	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271447	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308	biolink:NamedThing			mondoexuq1wtf																														
DOID:6854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78719009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699739	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363346000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225358	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017540	biolink:NamedThing	obsolete postaxial polydactyly of toes, bilateral		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0011348			True		ICD10:Q69.2|Orphanet:295181																		owl:Class
ORPHA:295181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111488004	biolink:NamedThing			mondoexuq1wtf																														
DOID:2908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92117002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432269	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280777	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020198	biolink:NamedThing	obsolete rare conjunctival disease	Rare conjunctival disease.	mondoexuq1wtf	rare conjunctival disease			MONDO:0002932			UMLS:C0009759			True		Orphanet:98610														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:98610	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020295	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427086003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050288	biolink:NamedThing			mondoexuq1wtf																														
DOID:1005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111597	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105565	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018226	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C141442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564400	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719158007	biolink:NamedThing			mondoexuq1wtf																														
DOID:60009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235049008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65753008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16631009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71464000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617982	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016635	biolink:NamedThing	obsolete thrombotic disorder due to a platelet anomaly		mondoexuq1wtf		out of scope					MONDO:0000831			True		Orphanet:248368|UMLS:CN226985														https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456				owl:Class
ORPHA:248368	biolink:NamedThing			mondoexuq1wtf																														
DOID:600	biolink:NamedThing			mondoexuq1wtf																														
DOID:9389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717158001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703538003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014435	biolink:NamedThing			mondoexuq1wtf																														
DOID:13446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83123000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605727	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#clingen_preferred	biolink:NamedThing			mondoexuq1wtf						clingen_preferred																								owl:AnnotationProperty
UMLS:C0342623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000744	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060076	biolink:NamedThing			mondoexuq1wtf																														
DOID:5890	biolink:NamedThing			mondoexuq1wtf																														
DOID:3069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272203	biolink:NamedThing			mondoexuq1wtf																														
DOID:4678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206989009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69825009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31541009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611107	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536063	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17585008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128343	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9434008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155373	biolink:NamedThing			mondoexuq1wtf																														
DOID:9810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017511	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228366	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16026008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028865	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614198	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2018777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278517007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6560	biolink:NamedThing			mondoexuq1wtf																														
DOID:3557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000067559	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155648008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197848003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253086004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36741007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2973725	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020170	biolink:NamedThing	obsolete congenital upper palpebral retraction		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0003382			True		Orphanet:98579|ICD10:H02.5																		owl:Class
ORPHA:98579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403814	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458827	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83252008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333477	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720523006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47367009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187736009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34376	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150966	biolink:NamedThing			mondoexuq1wtf																														
DOID:14686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703532002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949804	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002538	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191988002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124331002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0587248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92590009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752039	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346260	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28689008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447765004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195697006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110000005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82077006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278512001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239338	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765212008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98994	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198010009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:328611000119105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190694001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601230	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10046058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8247009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95883001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034152	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34457	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88252006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59174009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201057	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447774	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003108	biolink:NamedThing			mondoexuq1wtf																														
DOID:1677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:103677003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036868	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156912004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:315826004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN231410	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158322008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080513	biolink:NamedThing			mondoexuq1wtf																														
DOID:4359	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64747	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27312	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563655	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567854	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005077	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19943007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94113004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155557	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76618002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399269003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372104008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155842007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63567004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2023	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7692008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4640	biolink:NamedThing			mondoexuq1wtf																														
DOID:4336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158996	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537152	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717187000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195381005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722294004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494444	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602080	biolink:NamedThing			mondoexuq1wtf																														
DOID:4780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303117009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721837000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567190	biolink:NamedThing			mondoexuq1wtf																														
MESH:D043183	biolink:NamedThing			mondoexuq1wtf																														
DOID:11111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88230002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63127008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126792007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3348	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134216001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36739006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88635	biolink:NamedThing			mondoexuq1wtf																														
DOID:4189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51404004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:356961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77503002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4501	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13877006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720513002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115233005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193982009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851849	biolink:NamedThing			mondoexuq1wtf																														
DOID:7841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38342005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032064	biolink:NamedThing			mondoexuq1wtf																														
DOID:10441	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764623009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3640823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187770	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373662000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75019001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060115	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282947	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155423003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266188005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41069008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199978	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607665	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203963	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2065009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276509008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269461008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110627	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192428007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715403006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:279953009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0240063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054287	biolink:NamedThing			mondoexuq1wtf																														
DOID:338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190026006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267747007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92589000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188245008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190463005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154922007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722944006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024894	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186685000	biolink:NamedThing			mondoexuq1wtf																														
DOID:857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253290	biolink:NamedThing			mondoexuq1wtf																														
DOID:9954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0848879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157826	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566383	biolink:NamedThing			mondoexuq1wtf																														
DOID:2704	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192972000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206607	biolink:NamedThing			mondoexuq1wtf																														
DOID:12528	biolink:NamedThing			mondoexuq1wtf																														
DOID:2569	biolink:NamedThing			mondoexuq1wtf																														
DOID:3284	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188654004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766044005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393563007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193108007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34250006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697970009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725166005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3262	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021141	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111197009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239071005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193473008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563963	biolink:NamedThing			mondoexuq1wtf																														
DOID:11277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032818	biolink:NamedThing			mondoexuq1wtf																														
DOID:5977	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40168	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61764000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612650	biolink:NamedThing			mondoexuq1wtf																														
DOID:9681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931128	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0008126	biolink:NamedThing	obsolete oncogene Yuasa		mondoexuq1wtf	oncogene Yuasa					This is a gene record, not a disease.				True		OMIM:164891														https://github.com/monarch-initiative/mondo/issues/1452				owl:Class
http://identifiers.org/omim/164891	biolink:NamedThing			mondoexuq1wtf																														
DOID:4440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146590	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193359003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254782003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410787	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535906	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837155	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050585	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2979888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2049069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98813	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070140	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565666	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3146244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675472	biolink:NamedThing			mondoexuq1wtf																														
DOID:6543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393589	biolink:NamedThing			mondoexuq1wtf																														
DOID:5782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193452008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28681006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63259	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619141	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/452941	biolink:NamedThing			mondoexuq1wtf																														
DOID:11164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197073002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613348	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92384009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3727	biolink:NamedThing			mondoexuq1wtf																														
DOID:4200	biolink:NamedThing			mondoexuq1wtf																														
DOID:3493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363523	biolink:NamedThing			mondoexuq1wtf																														
DOID:8622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363454002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443805006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432209	biolink:NamedThing			mondoexuq1wtf																														
DOID:9119	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#DEPRECATED	biolink:NamedThing	A synonym that is historic and discouraged		mondoexuq1wtf																														owl:AnnotationProperty
UMLS:C1832949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734078009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3331000119108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:145597000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4520892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227342	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110388	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190428000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300914	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236383	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015524	biolink:NamedThing			mondoexuq1wtf																														
DOID:6208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605589	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618729	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673697	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619366	biolink:NamedThing			mondoexuq1wtf																														
DOID:5230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188241004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188304002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189835008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206896	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16761005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034341	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060850	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007446	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1168173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156265	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424065	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537088	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111400	biolink:NamedThing			mondoexuq1wtf																														
DOID:8439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615990	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464458	biolink:NamedThing			mondoexuq1wtf																														
DOID:2382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866503	biolink:NamedThing			mondoexuq1wtf																														
DOID:7051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717255008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98396	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187063001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716996008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:563001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717734005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70856007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16901001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152441	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36318001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268104000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3658301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86818	biolink:NamedThing			mondoexuq1wtf																														
DOID:6496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851896	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702378002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98581	biolink:NamedThing			mondoexuq1wtf																														
DOID:1168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726355001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72815004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796137	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162359	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1823105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156780005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187864008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1959	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83463	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274902006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2142002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27536004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715342005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399382009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536361	biolink:NamedThing			mondoexuq1wtf																														
DOID:12899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238014002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070597	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89799	biolink:NamedThing			mondoexuq1wtf																														
DOID:12072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5587004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720860004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333014	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715439000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193814003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23680005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206628	biolink:NamedThing			mondoexuq1wtf																														
DOID:11623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196536003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4520983	biolink:NamedThing			mondoexuq1wtf																														
DOID:110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4738	biolink:NamedThing			mondoexuq1wtf																														
DOID:9392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154628008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719210007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862381	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536922	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111331000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036089	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232061009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397732007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112686007	biolink:NamedThing			mondoexuq1wtf																														
DOID:9405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544628	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612079	biolink:NamedThing			mondoexuq1wtf																														
DOID:7497	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090075	biolink:NamedThing			mondoexuq1wtf																														
DOID:9743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206623	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2113	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20813000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191035005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187823003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276549000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234628004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865988	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419193008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189856005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:202948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4955	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334056	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267499005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3201	biolink:NamedThing			mondoexuq1wtf																														
DOID:2537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95280005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611895	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123266007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725100001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94140004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563087	biolink:NamedThing			mondoexuq1wtf																														
DOID:2973	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75372006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13656	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067736	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156004005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189788005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849112	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110236	biolink:NamedThing			mondoexuq1wtf																														
DOID:1936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1387005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006168	biolink:NamedThing	obsolete common hematopoietic neoplasm		mondoexuq1wtf						Obsoleted in NCIt				True		EFO:1000201														https://github.com/monarch-initiative/mondo/issues/2104				owl:Class
NCIT:C7588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44923005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466962	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41116009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8719	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19579005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27520001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334426	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537290	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535617	biolink:NamedThing			mondoexuq1wtf																														
DOID:1602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699354006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154803002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251651	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/530000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237618001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7736	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207042	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602966	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4016837	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715442006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564322	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:467176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8051000119105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080044	biolink:NamedThing			mondoexuq1wtf																														
DOID:1248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189230008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95570007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:147101000119108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204385008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124851	biolink:NamedThing			mondoexuq1wtf																														
DOID:2431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857568	biolink:NamedThing			mondoexuq1wtf																														
DOID:11552	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073359	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85919009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195967001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4995	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403973004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154771007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95001001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269286	biolink:NamedThing			mondoexuq1wtf																														
DOID:654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254221009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839988	biolink:NamedThing			mondoexuq1wtf																														
DOID:4012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443790001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192887006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3996	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536708	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012222	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022398	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304914	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17482009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153474	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720519003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719975002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619227	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0332878	biolink:NamedThing			mondoexuq1wtf																														
DOID:7596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0701157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539715	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766720000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606369	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192786008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68600005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446989009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359673001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:474347	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808107	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267468009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93655004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36351005	biolink:NamedThing			mondoexuq1wtf																														
DOID:9551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193060	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126846004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155580000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26249004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100974	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718850008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14070001000004105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81120009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129305	biolink:NamedThing			mondoexuq1wtf																														
DOID:10842	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376359	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615160	biolink:NamedThing			mondoexuq1wtf																														
DOID:4543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7881005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149640	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34110004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47812002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4602007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724282009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68190001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854150	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280821	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153529	biolink:NamedThing			mondoexuq1wtf																														
DOID:2228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158280	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193686009	biolink:NamedThing			mondoexuq1wtf																														
DOID:10655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:766	biolink:NamedThing			mondoexuq1wtf																														
DOID:5822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567779	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007959	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566347	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5787	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536218	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111763	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201809006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608796	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600348	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307574003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238050009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254987003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796076	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015527	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:306636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254609000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266314007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698846009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80881003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612976	biolink:NamedThing			mondoexuq1wtf																														
DOID:13768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205770007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719274008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227587	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031049	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016768	biolink:NamedThing	obsolete rare mucosal lichen planus		mondoexuq1wtf	rare mucosal LP	MONDO:outOfScope					ICD10:L43.8|ICD10:L43.1|ICD10:L43.3|ICD10:L43.9|ICD10:L43.0|ICD10:L43.2			True		UMLS:CN226996|Orphanet:254373														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MESH:C557827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0678213	biolink:NamedThing			mondoexuq1wtf																														
MESH:D038261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456845	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308121000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611536	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070337	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57541005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52674009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204368006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45377007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269545009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141269	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342753	biolink:NamedThing			mondoexuq1wtf																														
DOID:12986	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3697673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342712	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46587002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:365258000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201921	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69080001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198272003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74263009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3042	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65520001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930989	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102872	biolink:NamedThing			mondoexuq1wtf																														
DOID:5531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039483	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124646004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3165203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931323	biolink:NamedThing			mondoexuq1wtf																														
DOID:13619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69028005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399632009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768843007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155469003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931053	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060344	biolink:NamedThing			mondoexuq1wtf																														
DOID:8552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86533009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036732	biolink:NamedThing			mondoexuq1wtf																														
DOID:5398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37991008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180079	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271807003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157032007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715852004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723551003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4755	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187071002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99791	biolink:NamedThing			mondoexuq1wtf																														
DOID:11364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156670001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750995	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196542004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78317008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45129002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042721	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266556005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195702002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6993	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31220004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542	biolink:NamedThing			mondoexuq1wtf																														
DOID:12001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35346	biolink:NamedThing			mondoexuq1wtf																														
DOID:8941	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563256	biolink:NamedThing			mondoexuq1wtf																														
DOID:4525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197777006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409671005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616231	biolink:NamedThing			mondoexuq1wtf																														
DOID:321	biolink:NamedThing			mondoexuq1wtf																														
DOID:260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49765009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154301006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94095	biolink:NamedThing			mondoexuq1wtf																														
DOID:1761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612540	biolink:NamedThing			mondoexuq1wtf																														
DOID:6774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84438001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606070	biolink:NamedThing			mondoexuq1wtf																														
DOID:3608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614891	biolink:NamedThing			mondoexuq1wtf																														
DOID:11079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42758002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21098003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182114	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4322	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54675009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397932003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550921	biolink:NamedThing			mondoexuq1wtf																														
DOID:3502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN734570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442292004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24752008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768937006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266266001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139474	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79833006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404042005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95698	biolink:NamedThing			mondoexuq1wtf																														
DOID:3604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276860003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538115	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4716	biolink:NamedThing			mondoexuq1wtf																														
DOID:4030	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0994344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30235009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31325007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230437002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1258222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3379	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363668000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414022008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6504	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307846	biolink:NamedThing			mondoexuq1wtf																														
DOID:2006	biolink:NamedThing			mondoexuq1wtf																														
DOID:6297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91936005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN221577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205816	biolink:NamedThing			mondoexuq1wtf																														
DOID:2364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186172004	biolink:NamedThing			mondoexuq1wtf																														
DOID:680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020426	biolink:NamedThing			mondoexuq1wtf																														
DOID:6163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931595	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536189	biolink:NamedThing			mondoexuq1wtf																														
DOID:13957	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4575	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110028	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617235	biolink:NamedThing			mondoexuq1wtf																														
DOID:6733	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93018000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265201	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398686	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058387	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193273005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367506006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238695001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607944	biolink:NamedThing			mondoexuq1wtf																														
DOID:6707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763348005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702448007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274718005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31611000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13200003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191771004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711543008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266644004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4122	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226999	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080514	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26752	biolink:NamedThing			mondoexuq1wtf																														
DOID:2135	biolink:NamedThing			mondoexuq1wtf																														
DOID:3098	biolink:NamedThing			mondoexuq1wtf																														
DOID:5214	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050675	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124437004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554078	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014524	biolink:NamedThing			mondoexuq1wtf																														
DOID:3728	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39990	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193985006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0362030	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018286	biolink:NamedThing	obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature		mondoexuq1wtf	non-X-linked CDG with intellectual disability as a major feature	MONDO:outOfScope					ICD10:E77.8			True		Orphanet:371064														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6				owl:Class
DOID:7922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007682	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60346004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140908	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837213	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110259	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600343	biolink:NamedThing			mondoexuq1wtf																														
DOID:12657	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110479	biolink:NamedThing			mondoexuq1wtf																														
DOID:5480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42194009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564806	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87696004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13227	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3781	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194061008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618744	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008216	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205820002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403773005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266537000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6263	biolink:NamedThing			mondoexuq1wtf																														
DOID:3902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74969002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111157	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227208	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565629	biolink:NamedThing			mondoexuq1wtf																														
DOID:13431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751782	biolink:NamedThing			mondoexuq1wtf																														
MESH:D048090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2145472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859567	biolink:NamedThing			mondoexuq1wtf																														
DOID:11316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267735001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724099000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703370002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362969004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128461001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399919001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3574	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2689001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520716	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749562	biolink:NamedThing			mondoexuq1wtf																														
DOID:7808	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019049	biolink:NamedThing	obsolete rare dystonia	Rare dystonia.	mondoexuq1wtf	rare dystonia (disease)|rare dystonia|rare dystonic disorder			MONDO:0003441			UMLS:C0393593			True		Orphanet:68363														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
ORPHA:93619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:725	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14990007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74102009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431166	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3738000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1825	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617864	biolink:NamedThing			mondoexuq1wtf																														
DOID:1579	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57054005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520087	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3511005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254654004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565165	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058423	biolink:NamedThing			mondoexuq1wtf																														
DOID:4242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60641	biolink:NamedThing			mondoexuq1wtf																														
DOID:7442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:712989008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14904006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610908	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155239008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274761	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444596001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110019	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95695004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70647001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271320	biolink:NamedThing			mondoexuq1wtf																														
DOID:7235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615835	biolink:NamedThing			mondoexuq1wtf																														
DOID:6307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17122004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201987005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362968007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C88413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307326004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233820004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716249009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615710	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8986	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031243	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN028850	biolink:NamedThing			mondoexuq1wtf																														
DOID:7061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C14364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188263008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57938005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C138211	biolink:NamedThing			mondoexuq1wtf																														
DOID:3429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66454007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4331	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155123006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207035	biolink:NamedThing			mondoexuq1wtf																														
DOID:4404	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833883	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537351	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189756002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155300002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188650008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187006006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197748005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155974004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46699001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191716000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266141	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177904	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536372	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006973	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155142	biolink:NamedThing			mondoexuq1wtf																														
DOID:519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795939	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720412009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454742	biolink:NamedThing			mondoexuq1wtf																														
DOID:11121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567467	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192515002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0495094	biolink:NamedThing			mondoexuq1wtf																														
DOID:14444	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:41751	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98491	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390936003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:282092005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118285006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87252009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750082	biolink:NamedThing			mondoexuq1wtf																														
DOID:3850	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080260	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021037	biolink:NamedThing	obsolete genetic neurodegenerative disease with dementia	An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome.	mondoexuq1wtf	genetic neurodegenerative disease with dementia					Dementia should be a feature, not a superclass.	MONDO:0024237			True		Orphanet:276058|UMLS:CN202589														https://github.com/monarch-initiative/mondo/issues/1954				owl:Class
ORPHA:276058	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044281	biolink:NamedThing	obsolete c3hex, ability to smell	Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}).	mondoexuq1wtf	C3HEX, ability to smell					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:615082																		owl:Class
http://identifiers.org/omim/615082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398222003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422853008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607080	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185020	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854365	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056981	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52368004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39978004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48124008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676740	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037742	biolink:NamedThing			mondoexuq1wtf																														
DOID:7139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863237	biolink:NamedThing			mondoexuq1wtf																														
DOID:840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1409763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201147004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14357004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6257	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128115	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060842	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0848558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190484000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3031	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6340	biolink:NamedThing			mondoexuq1wtf																														
DOID:5209	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011305	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080295	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99111	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30924005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564787	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237083000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716721003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865284	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193450000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11361009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725903003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158057	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197767009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718192000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205089003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006103	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268092005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013592	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155893003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339556	biolink:NamedThing			mondoexuq1wtf																														
DOID:3579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609143007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35601003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275933	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080030	biolink:NamedThing			mondoexuq1wtf																														
DOID:3813	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719824001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:472981000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266391003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191694008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128809007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618273	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17608003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855034	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029657	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204014	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552304	biolink:NamedThing			mondoexuq1wtf																														
DOID:10629	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269524002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409712001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796059	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94147	biolink:NamedThing			mondoexuq1wtf																														
MESH:D061085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40298	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566638	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111699	biolink:NamedThing			mondoexuq1wtf																														
DOID:3481	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016124	biolink:NamedThing	obsolete drug and/or toxic myopathy		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0016105			True		Orphanet:206985																		owl:Class
ORPHA:206985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1829703	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014211	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719160009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155491005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332986	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0544738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73452002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607745	biolink:NamedThing			mondoexuq1wtf																														
DOID:10152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948216	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1394919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21893008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5242	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0577627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83291003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613458	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565420	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198381006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610279	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010031	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261311	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85184	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128401	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8188	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614220	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009069	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535326	biolink:NamedThing			mondoexuq1wtf																														
DOID:11302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92241005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349621	biolink:NamedThing			mondoexuq1wtf																														
DOID:864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537364	biolink:NamedThing			mondoexuq1wtf																														
DOID:5672	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399314004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14087004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198178006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271325000	biolink:NamedThing			mondoexuq1wtf																														
DOID:7696	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418925002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129035	biolink:NamedThing			mondoexuq1wtf																														
DOID:3267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35970001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612589	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131859	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194692006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607221	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200884006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3305006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93784003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129619006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270853	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618567	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31659000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154507009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601217	biolink:NamedThing			mondoexuq1wtf																														
DOID:3265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193757003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186582008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C175584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614731	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607539	biolink:NamedThing			mondoexuq1wtf																														
DOID:112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302821007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009730	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512751	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7640	biolink:NamedThing			mondoexuq1wtf																														
DOID:264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68116008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725290000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13145	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519486	biolink:NamedThing			mondoexuq1wtf																														
DOID:2212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197008005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402561003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270893004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228910	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39753	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2699746	biolink:NamedThing			mondoexuq1wtf																														
DOID:1342	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335317	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012142	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1778	biolink:NamedThing			mondoexuq1wtf																														
DOID:11446	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16814004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59621000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237524	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31021007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864124	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254957009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721094006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66191007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764447009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275322007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494451	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540404	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535458	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424413001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276758	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25370001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430888006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386033004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263739	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334769	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616462	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009810	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165958	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330058	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124309005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858379	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166710	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4050314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65720	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4053736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715345007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567624	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70933002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237630007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245300	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020200	biolink:NamedThing	obsolete conjunctival hemangioma or hemolymphangioma		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0006170			True		Orphanet:98612																		owl:Class
ORPHA:98612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83330001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832432	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3318	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065854	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1268717	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1879344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4252	biolink:NamedThing			mondoexuq1wtf																														
DOID:4872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861766	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000789	biolink:NamedThing	obsolete Atlantic cod allergy	A allergy involving a Gadus morhua.	mondoexuq1wtf	Gadus morhua caused allergic disease|Gadus morhua fish allergy|Gadus morhua allergic disease|allergy of Gadus morhua	MONDO:outOfScope								True		DOID:0060514														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3697477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832110	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190301009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615905	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34382	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56733003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36102002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:138748005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:127	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100035	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613660	biolink:NamedThing			mondoexuq1wtf																														
DOID:12206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334082	biolink:NamedThing			mondoexuq1wtf																														
DOID:13027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853926	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189713007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155446001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155938008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302161006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96474	biolink:NamedThing			mondoexuq1wtf																														
DOID:13477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675055	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84333006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187161002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833229	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544602	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158330	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006308	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0050731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4048196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267598004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110899	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35092	biolink:NamedThing			mondoexuq1wtf																														
DOID:2122	biolink:NamedThing			mondoexuq1wtf																														
DOID:6951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155090	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479504	biolink:NamedThing			mondoexuq1wtf																														
DOID:12360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843942	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40228	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931727	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344688	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2350875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609754	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765135003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324713	biolink:NamedThing			mondoexuq1wtf																														
DOID:7894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203999008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190792005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4076530	biolink:NamedThing			mondoexuq1wtf																														
DOID:3269	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716199000	biolink:NamedThing			mondoexuq1wtf																														
DOID:296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009225	biolink:NamedThing			mondoexuq1wtf																														
DOID:4968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230790004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269531003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278985	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413844008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196828002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6631	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401785	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0595993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27941	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232035005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733082001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187379009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84835	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012303	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C63324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192672003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302231008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290872	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154527005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255012009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023156	biolink:NamedThing	obsolete fibular aplasia		mondoexuq1wtf							HP:0002990			True		GARD:0008659																		owl:Class
SNOMEDCT:57100005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333046	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618603	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613063	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115228006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612954	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070136	biolink:NamedThing			mondoexuq1wtf																														
DOID:4003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42861008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56453003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254949006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003111	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404081005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189643000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399846	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193984005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614325	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612281	biolink:NamedThing			mondoexuq1wtf																														
DOID:2018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725097006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26852	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676510	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193393004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191311007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:585867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89000008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4612	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111590001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518746	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766717008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18265008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58258004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0809935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444458	biolink:NamedThing			mondoexuq1wtf																														
DOID:230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038994	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564320	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733111000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3856	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46939000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602561	biolink:NamedThing			mondoexuq1wtf																														
DOID:10273	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126639006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:232035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603446	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187390004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4949	biolink:NamedThing			mondoexuq1wtf																														
DOID:8643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6738008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002296	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697903007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028586	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363393007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702444009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187633009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195249004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764730007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196996008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931365	biolink:NamedThing			mondoexuq1wtf																														
DOID:9021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616219	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74460005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108770	biolink:NamedThing			mondoexuq1wtf																														
DOID:3301	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294977	biolink:NamedThing			mondoexuq1wtf																														
DOID:6423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3544268	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007634	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5601	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86188000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196467004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0678222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718751000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154936002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194374008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197268000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82797006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189879006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342850	biolink:NamedThing			mondoexuq1wtf																														
DOID:5264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188720009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205120004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535714	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48188009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154338006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237542005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266308000	biolink:NamedThing			mondoexuq1wtf																														
DOID:12858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367410007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60	biolink:NamedThing			mondoexuq1wtf																														
DOID:782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29145002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335158	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84901	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562772	biolink:NamedThing			mondoexuq1wtf																														
DOID:12550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78129009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40108008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190740001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420212002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002817	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305085	biolink:NamedThing			mondoexuq1wtf																														
DOID:3709	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1201005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50043002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:556955	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78658006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227201	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193877001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920258	biolink:NamedThing			mondoexuq1wtf																														
DOID:7198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411527	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733118006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718851007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62403005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715821000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614887	biolink:NamedThing			mondoexuq1wtf																														
DOID:7600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276682	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414783007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840322	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616421	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061031	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:754	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610756	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38938	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080572	biolink:NamedThing			mondoexuq1wtf																														
DOID:11329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7989	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117074	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009324	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003047	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362966006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196075003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127071007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519868	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241961	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329235	biolink:NamedThing			mondoexuq1wtf																														
DOID:5380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38606009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75316000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3156	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070211	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080471	biolink:NamedThing			mondoexuq1wtf																														
DOID:14773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616860	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720757001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2632	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060082	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274789	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23670006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64009001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0240164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13617004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49982000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269574000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060547	biolink:NamedThing			mondoexuq1wtf																														
DOID:6376	biolink:NamedThing			mondoexuq1wtf																														
DOID:7430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333419	biolink:NamedThing			mondoexuq1wtf																														
DOID:6367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838569	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124267007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192975003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55907008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204314001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153291	biolink:NamedThing			mondoexuq1wtf																														
DOID:6950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1522378	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698253007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99383	biolink:NamedThing			mondoexuq1wtf																														
DOID:7103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206639	biolink:NamedThing			mondoexuq1wtf																														
DOID:1373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267700003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:978	biolink:NamedThing			mondoexuq1wtf																														
DOID:4843	biolink:NamedThing			mondoexuq1wtf																														
DOID:11851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93838000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733473000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341116	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607625	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55150002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703603008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346084	biolink:NamedThing			mondoexuq1wtf																														
DOID:11175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68979007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268233005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080418	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538311	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763797003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302824004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86997002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126550004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536435	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416510003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266662008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614074	biolink:NamedThing			mondoexuq1wtf																														
DOID:13996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:167759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013261	biolink:NamedThing			mondoexuq1wtf																														
DOID:8757	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564863	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725907002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254921004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617120	biolink:NamedThing			mondoexuq1wtf																														
DOID:9839	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198324001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608236	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230555009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114929	biolink:NamedThing			mondoexuq1wtf																														
DOID:2477	biolink:NamedThing			mondoexuq1wtf																														
DOID:1417	biolink:NamedThing			mondoexuq1wtf																														
DOID:2498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91992005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300347	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054068	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124593001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84576	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3297	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718750004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1001000119102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79097	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024408	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237790001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422167001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186619002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608462	biolink:NamedThing			mondoexuq1wtf																														
DOID:10033	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194331005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766982000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286969006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605115	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007714	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225379	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194074002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:134	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002278	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020269	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55444004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6962006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335367	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080123	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029640	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197859007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239023005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196595001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18358003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187537002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191960008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750079	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060602	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039101	biolink:NamedThing			mondoexuq1wtf																														
DOID:11204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717785002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:742876007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155634008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189911002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266551	biolink:NamedThing			mondoexuq1wtf																														
DOID:4766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191829009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723496007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151465	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023249	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93790004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861404	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604403	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178238	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931548	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605407	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88092000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809875	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3316	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002532	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265301	biolink:NamedThing			mondoexuq1wtf																														
DOID:4626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246611002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157946	biolink:NamedThing			mondoexuq1wtf																														
DOID:3259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254712007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15949004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388840007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154162	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603736	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047847	biolink:NamedThing			mondoexuq1wtf																														
DOID:13369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6973	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312956001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87837008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866853	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716871006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60718004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3671	biolink:NamedThing			mondoexuq1wtf																														
DOID:11506	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270004003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713293002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266276003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723408004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99029	biolink:NamedThing			mondoexuq1wtf																														
DOID:3281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239001006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252648	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000544	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833508	biolink:NamedThing			mondoexuq1wtf																														
DOID:3627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189724009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233901002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255105002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616410	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537767	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206729	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722434004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191371001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363398003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110663	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060467	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608850	biolink:NamedThing			mondoexuq1wtf																														
DOID:3004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79358009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020168	biolink:NamedThing	obsolete kinetic eyelid anomaly		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0003382			True		Orphanet:98577																		owl:Class
ORPHA:98577	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192035008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79950	biolink:NamedThing			mondoexuq1wtf																														
DOID:13406	biolink:NamedThing			mondoexuq1wtf																														
DOID:331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352587	biolink:NamedThing			mondoexuq1wtf																														
DOID:10458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537662	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023353	biolink:NamedThing			mondoexuq1wtf																														
DOID:7284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766765009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397596	biolink:NamedThing			mondoexuq1wtf																														
DOID:686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20734000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118607005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150700	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155160	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93338	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206983	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5145	biolink:NamedThing			mondoexuq1wtf																														
DOID:5642	biolink:NamedThing			mondoexuq1wtf																														
DOID:5427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842979	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:160	biolink:NamedThing			mondoexuq1wtf																														
DOID:9942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4359001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836448	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867438	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110567	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3967	biolink:NamedThing			mondoexuq1wtf																														
DOID:6428	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190273009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186125004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208085	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150414	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254789007	biolink:NamedThing			mondoexuq1wtf																														
DOID:4164	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011553	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563678	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010048	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54184008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617468	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702421006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013473	biolink:NamedThing			mondoexuq1wtf																														
DOID:1517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155061007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039137	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015143	biolink:NamedThing	obsolete rare movement disorder	Rare movement disorder.	mondoexuq1wtf	rare movement disorder			MONDO:0005395			UMLS:C0026650			True		Orphanet:102003														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
DOID:0080012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230553002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060315	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93670003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:563581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95609003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399607007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193278001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615381	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155314002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3267	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32595002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080189	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557821	biolink:NamedThing			mondoexuq1wtf																														
DOID:13732	biolink:NamedThing			mondoexuq1wtf																														
DOID:3611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187125007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703406006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77361002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2491	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123842006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537830	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266210001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255029007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719980006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21877004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341305	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55031000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57119000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448227009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189988001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611242	biolink:NamedThing			mondoexuq1wtf																														
DOID:13976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186607005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276817007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23892008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619170	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617746	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860167	biolink:NamedThing			mondoexuq1wtf																														
DOID:2059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201004002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73774007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9740002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0460004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70076002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93679002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037889	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618821	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537748	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23615008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4717	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019878	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279564	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131449	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268757006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192391006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614847	biolink:NamedThing			mondoexuq1wtf																														
DOID:7512	biolink:NamedThing			mondoexuq1wtf																														
DOID:1650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9317	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018214	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79312	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398783	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10055579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200364	biolink:NamedThing			mondoexuq1wtf																														
DOID:10361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719041000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718217000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618935	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613849	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604571	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314459	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227216	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3061	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154058	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723512008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722391005	biolink:NamedThing			mondoexuq1wtf																														
DOID:9724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110949	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186304006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254612002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191156009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3836857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403605007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237793004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715863001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766249007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001656	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90036004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263725	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279748	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C72074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441459009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016131	biolink:NamedThing	obsolete spinal muscular atrophy associated with central nervous system anomaly		mondoexuq1wtf										True		Orphanet:207012																		owl:Class
UMLS:C3809874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:736606009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189801005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47384003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186536000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420174000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204779004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199584008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/233758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704217	biolink:NamedThing			mondoexuq1wtf																														
DOID:14762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230449001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267557006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796232	biolink:NamedThing			mondoexuq1wtf																														
DOID:4848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205468002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567310	biolink:NamedThing			mondoexuq1wtf																														
DOID:6500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4397	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225427	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#DUBIOUS	biolink:NamedThing	dubious synonym		mondoexuq1wtf																														owl:AnnotationProperty
http://identifiers.org/omim/500013	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403886007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616222	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56970	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549622	biolink:NamedThing			mondoexuq1wtf																														
DOID:8514	biolink:NamedThing			mondoexuq1wtf																														
MESH:D028243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070087	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018046	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154954003	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017083	biolink:NamedThing	obsolete lipoma associated with neurospinal dysraphism		mondoexuq1wtf										True		Orphanet:268832																		owl:Class
ORPHA:98059	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:117573	biolink:NamedThing			mondoexuq1wtf																														
DOID:8881	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564017	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566753	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110699	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012813	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268305	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254828009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139359007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3827793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2604	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4820	biolink:NamedThing			mondoexuq1wtf																														
DOID:3593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183509	biolink:NamedThing			mondoexuq1wtf																														
DOID:4731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237977000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186292001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27250	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3435	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140997	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060172	biolink:NamedThing			mondoexuq1wtf																														
DOID:3700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423189008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192501004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200920000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15805002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278601	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198322002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271650	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68222009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015038	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189506005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186822003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675865	biolink:NamedThing			mondoexuq1wtf																														
DOID:9892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191044006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720566004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537060	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563895	biolink:NamedThing			mondoexuq1wtf																														
DOID:5212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155499007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367098005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5539	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8374	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564796	biolink:NamedThing			mondoexuq1wtf																														
DOID:12919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192784006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0595985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34563004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62767009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000434	biolink:NamedThing	obsolete peripheral T-cell lymphoma		mondoexuq1wtf				MONDO:0000430						True																				owl:Class
MESH:D005158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178421	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613717	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5513	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231117	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185460	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718553004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022782	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN623018	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190092003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166433	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239183	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403810008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567261	biolink:NamedThing			mondoexuq1wtf																														
DOID:7244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38111	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281089	biolink:NamedThing			mondoexuq1wtf																														
DOID:7539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853899	biolink:NamedThing			mondoexuq1wtf																														
DOID:6211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95157	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765096001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190290003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719298001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221286	biolink:NamedThing			mondoexuq1wtf																														
DOID:1085	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000793	biolink:NamedThing	obsolete rainbow trout allergy	A allergy involving a Oncorhynchus mykiss.	mondoexuq1wtf	Oncorhynchus mykiss allergic disease|Oncorhynchus mykiss caused allergic disease|Oncorhynchus mykiss allergy|allergy of Oncorhynchus mykiss	MONDO:outOfScope								True		DOID:0060518														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C17649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47398006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346060	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0495106	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118430	biolink:NamedThing			mondoexuq1wtf																														
DOID:5719	biolink:NamedThing			mondoexuq1wtf																														
DOID:492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155183008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5089007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12454008	biolink:NamedThing			mondoexuq1wtf																														
DOID:61	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118938008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000772	biolink:NamedThing	obsolete pollen allergy	A allergy involving pollen.	mondoexuq1wtf	pollen allergic disease|allergy of pollen	MONDO:outOfScope								True		DOID:0060497														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060497	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225267	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277996009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7864001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400978	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190066005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10073002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188988008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66351003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424107	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050554	biolink:NamedThing			mondoexuq1wtf																														
DOID:14491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445187004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289539	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733084000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307609003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156454008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612736	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613227	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128815007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0683416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014780	biolink:NamedThing			mondoexuq1wtf																														
DOID:6230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275684	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:289179008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89089007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93603	biolink:NamedThing			mondoexuq1wtf																														
DOID:664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715242008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722468005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612998	biolink:NamedThing			mondoexuq1wtf																														
DOID:11055	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79195003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715438008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403770008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79359	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77659000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69646003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84506	biolink:NamedThing			mondoexuq1wtf																														
DOID:5643	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851994	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537145	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111284	biolink:NamedThing			mondoexuq1wtf																														
DOID:5820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720626009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193789007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188291000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128818009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267711006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1674008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609143	biolink:NamedThing			mondoexuq1wtf																														
DOID:12704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931505	biolink:NamedThing			mondoexuq1wtf																														
DOID:3255	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562873	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268600	biolink:NamedThing			mondoexuq1wtf																														
DOID:9155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618702	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124860004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310718	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015211	biolink:NamedThing			mondoexuq1wtf																														
DOID:988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261112	biolink:NamedThing			mondoexuq1wtf																														
DOID:11354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35424	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1264040	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251009000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5704	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035112	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94148	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1338007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49362009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35194	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723333000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237712	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259900	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834928	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109988003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113615	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764512003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1350	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016553	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362971004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397336008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97136	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9461	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015827	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869123	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240062007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139358004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585266	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240218006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267503004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155372006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203522001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7484005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009761	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189295000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3393	biolink:NamedThing			mondoexuq1wtf																														
DOID:4790	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809768	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048411	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725104005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700109009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431341	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9824006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62251004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015156	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425940002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234377003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:106190000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011981	biolink:NamedThing			mondoexuq1wtf																														
DOID:3982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1825363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47277009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1176475	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044236	biolink:NamedThing	obsolete hepatitis b vaccine, response to	More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}).	mondoexuq1wtf	HEPATITIS B vaccine, response to|HBV vaccine, response to					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:142395																		owl:Class
http://identifiers.org/omim/142395	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92087008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192752004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193426002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4054526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4192	biolink:NamedThing			mondoexuq1wtf																														
DOID:14789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235370	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230264003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192371004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060898	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3758	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67195008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050679	biolink:NamedThing			mondoexuq1wtf																														
DOID:3008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020877	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:425003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46724008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192624004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207046	biolink:NamedThing			mondoexuq1wtf																														
DOID:2079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725034002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614322	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34515	biolink:NamedThing			mondoexuq1wtf																														
DOID:1432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1568868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721881008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9799	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95648003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83312008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254588001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766888002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266664009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2062889	biolink:NamedThing			mondoexuq1wtf																														
DOID:4303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269062	biolink:NamedThing			mondoexuq1wtf																														
DOID:873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3696	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95597	biolink:NamedThing			mondoexuq1wtf																														
DOID:13649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200946001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127001008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400211001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51744007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98815	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764734003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717887003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123844007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131853	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225396	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237705001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203549	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359732009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443416007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612310	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110936	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724015007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44518003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227150	biolink:NamedThing			mondoexuq1wtf																														
DOID:4944	biolink:NamedThing			mondoexuq1wtf																														
DOID:13453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237891005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861234	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39963006	biolink:NamedThing			mondoexuq1wtf																														
DOID:738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267707000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:164736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188722001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4022	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018981	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538602	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279702	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238870004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0233711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2739810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397428000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53406005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154718007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D064726	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80549000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25470000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182970	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79604008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194236002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277810000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231401	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196585008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197289009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278481	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232293008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286951002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64712007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970458	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363203	biolink:NamedThing			mondoexuq1wtf																														
DOID:14110	biolink:NamedThing			mondoexuq1wtf																														
DOID:13972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192824002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359727008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13866	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031954	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26745	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715734006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1767	biolink:NamedThing			mondoexuq1wtf																														
DOID:1148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208050	biolink:NamedThing			mondoexuq1wtf																														
DOID:9541	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080366	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538382	biolink:NamedThing			mondoexuq1wtf																														
DOID:7266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1610065	biolink:NamedThing			mondoexuq1wtf																														
DOID:3033	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616247	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:316235	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563095	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189664001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125418	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:80	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719012009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58256000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267681007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64662007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36971009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163681	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193872007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59252009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0544839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0859976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388601000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703219008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063654	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187340003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32798002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5063	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266331000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336876	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278042005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352731	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2220	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057546	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31122002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715417002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1569637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94143002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81000006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675508	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038054	biolink:NamedThing			mondoexuq1wtf																														
DOID:7174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84004001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111807001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1531773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721756002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18718003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276891009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189508006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206339007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231981005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20342001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565518	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537769	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086431	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319239	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3731000119107	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253042009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235815	biolink:NamedThing			mondoexuq1wtf																														
DOID:4588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2332	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015447	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715864007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28189009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400001003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150676	biolink:NamedThing			mondoexuq1wtf																														
DOID:1993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006201	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565737	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009375	biolink:NamedThing			mondoexuq1wtf																														
DOID:3158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:782	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090110	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703266007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198091009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155302005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1421374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295134	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0477317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194012006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149517	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009393	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3165521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616228	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836694	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563338	biolink:NamedThing			mondoexuq1wtf																														
DOID:3541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95268002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13875003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54905006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833662	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021200	biolink:NamedThing	obsolete rare disease	Any of the forms of disease that have a rare incidence.	mondoexuq1wtf	rare disease|rare disorder|rare disease or disorder|rare diseases			MONDO:0000001		At this time we do not have a formal definition but this should correspond to ORDO classification of rare diseases	UMLS:C0678236			True		NCIT:C4873|MESH:D035583														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
NCIT:C4873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68574006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267573000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120372	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266145002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48440001	biolink:NamedThing			mondoexuq1wtf																														
DOID:5126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266235	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199361	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302914006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237251001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717921000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0332890	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051951	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050879	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536452	biolink:NamedThing			mondoexuq1wtf																														
DOID:2987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191761001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227266	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336895	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89057003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196123009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53529004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110076	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425558002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134213009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62585004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618606	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244940	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49518001	biolink:NamedThing			mondoexuq1wtf																														
DOID:10146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199318	biolink:NamedThing			mondoexuq1wtf																														
DOID:9744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254067002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238048001	biolink:NamedThing			mondoexuq1wtf																														
DOID:6845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203866	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019903	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707594002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196355002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617613	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22754005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3973009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601888	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190469009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044636	biolink:NamedThing	obsolete rare hyperkinetic movement disorder		mondoexuq1wtf		MONDO:outOfScope								True		Orphanet:494457														https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/500000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31996006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007134	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102570	biolink:NamedThing			mondoexuq1wtf																														
DOID:11396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN030358	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193465004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3662000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3630	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600513	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27530	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15892005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189559007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30383009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408649007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201534	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1883723	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156656001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363507003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857388	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609981	biolink:NamedThing			mondoexuq1wtf																														
DOID:6019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477993	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254844000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:11	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42786005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275464	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110344	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931525	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846170	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618974	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617882	biolink:NamedThing			mondoexuq1wtf																														
DOID:2034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810359	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15112009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80400009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863485	biolink:NamedThing			mondoexuq1wtf																														
DOID:8986	biolink:NamedThing			mondoexuq1wtf																														
DOID:7077	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563989	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613238	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6655	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168598	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850889	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1215	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931509	biolink:NamedThing			mondoexuq1wtf																														
DOID:3436	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090106	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65154009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105597003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39450006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502054	biolink:NamedThing			mondoexuq1wtf																														
DOID:4480	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198253003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:61	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080432	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060080	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110036	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070249	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188251003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202062	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703504006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263313	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060154	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041825	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050712	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29077001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34463	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613737	biolink:NamedThing			mondoexuq1wtf																														
DOID:1886	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61284	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310637	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:251030009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039022	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153993	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128832006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391384	biolink:NamedThing			mondoexuq1wtf																														
DOID:14535	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92208007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60650002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319251	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77381001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267650003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008677	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263297	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191000008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269459004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203138004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279987	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111433	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2077	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111516	biolink:NamedThing			mondoexuq1wtf																														
DOID:7140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537599	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060396	biolink:NamedThing			mondoexuq1wtf																														
DOID:218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275544	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567046	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536697	biolink:NamedThing			mondoexuq1wtf																														
DOID:6432	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861668	biolink:NamedThing			mondoexuq1wtf																														
DOID:7365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235879002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2948	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:135341000119101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448315008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26855	biolink:NamedThing			mondoexuq1wtf																														
DOID:5629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398049005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154278002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75456	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616326	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039496	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187770005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445227008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717791000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237341004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2349	biolink:NamedThing			mondoexuq1wtf																														
DOID:8596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612951	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195713004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89840	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189918008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93773005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853508	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5027	biolink:NamedThing			mondoexuq1wtf																														
DOID:5313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399463004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279658	biolink:NamedThing			mondoexuq1wtf																														
DOID:13709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93967000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025267	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27117	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002371	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:767130007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056266	biolink:NamedThing			mondoexuq1wtf																														
DOID:752	biolink:NamedThing			mondoexuq1wtf																														
DOID:10817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32916005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271080	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029644	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562858	biolink:NamedThing			mondoexuq1wtf																														
DOID:1964	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439762	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274103002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022387	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101109	biolink:NamedThing			mondoexuq1wtf																														
DOID:5907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836026	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332953	biolink:NamedThing			mondoexuq1wtf																														
DOID:6839	biolink:NamedThing			mondoexuq1wtf																														
DOID:12002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080495	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060566	biolink:NamedThing			mondoexuq1wtf																														
DOID:4397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763317002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986624	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018239	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269623003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931522	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266411000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1855002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99049	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616335	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197443000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72831007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301365	biolink:NamedThing			mondoexuq1wtf																														
DOID:1063	biolink:NamedThing			mondoexuq1wtf																														
DOID:4418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128775007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267800	biolink:NamedThing			mondoexuq1wtf																														
DOID:4025	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022498	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275265005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191354002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447730004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363394001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420289002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98816	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71232009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94717009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6479008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367526005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59277005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:81	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447740	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535569	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47481007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563690	biolink:NamedThing			mondoexuq1wtf																														
DOID:3865	biolink:NamedThing			mondoexuq1wtf																														
DOID:4152	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111404004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035075	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070332	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105400	biolink:NamedThing			mondoexuq1wtf																														
DOID:1029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3135	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55	biolink:NamedThing			mondoexuq1wtf																														
DOID:3572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197661001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28593007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1418874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195990006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535694	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111410	biolink:NamedThing			mondoexuq1wtf																														
DOID:9669	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5600009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128473001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59761008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN118845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72124005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865981	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201875	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2476	biolink:NamedThing			mondoexuq1wtf																														
DOID:2766	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101220	biolink:NamedThing			mondoexuq1wtf																														
DOID:14744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71060	biolink:NamedThing			mondoexuq1wtf																														
DOID:5349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191551006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN580795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310792	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8666004	biolink:NamedThing			mondoexuq1wtf																														
DOID:11723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187610008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93434	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565724	biolink:NamedThing			mondoexuq1wtf																														
DOID:2354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717813005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715652002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87548005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231931001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276096	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715365000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5775	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604757	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878500	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000841	biolink:NamedThing	obsolete metaphyseal dysplasia		mondoexuq1wtf				MONDO:0009943						True																				owl:Class
UMLS:C3280943	biolink:NamedThing			mondoexuq1wtf																														
MESH:D028922	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187306003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5474	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751783	biolink:NamedThing			mondoexuq1wtf																														
DOID:12029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237613005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156355008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52707009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212769008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4754	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717915004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717011006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79379	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053665	biolink:NamedThing			mondoexuq1wtf																														
DOID:6160	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193392009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236826	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012797	biolink:NamedThing			mondoexuq1wtf																														
DOID:13109	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3169	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254123002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154817006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37212	biolink:NamedThing			mondoexuq1wtf																														
DOID:12369	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721977007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76581006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684275	biolink:NamedThing			mondoexuq1wtf																														
DOID:5101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859646	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606788	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155526008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78303004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71275003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766709000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221392	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719510006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155108001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027060	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508533	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011015	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055955	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235730	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23447005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22053006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74296006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004405	biolink:NamedThing			mondoexuq1wtf																														
DOID:1542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449799008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564261	biolink:NamedThing			mondoexuq1wtf																														
DOID:3951	biolink:NamedThing			mondoexuq1wtf																														
DOID:10199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9128006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162872	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3402	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302862001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34287003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187752007	biolink:NamedThing			mondoexuq1wtf																														
DOID:11653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614487	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4050064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154690007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234906	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000070657	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199610002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203721006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122663	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92668003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226650	biolink:NamedThing			mondoexuq1wtf																														
DOID:6712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247775	biolink:NamedThing			mondoexuq1wtf																														
DOID:2468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765746008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99013	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015980	biolink:NamedThing	obsolete rare genetic gynecological and obstetrical diseases		mondoexuq1wtf	rare genetic female reproductive system disease			MONDO:0002263						True		Orphanet:183731|UMLS:CN200580														https://github.com/monarch-initiative/mondo/issues/254				owl:Class
http://identifiers.org/omim/135800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195197005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857795	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538389	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028210	biolink:NamedThing			mondoexuq1wtf																														
DOID:4374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194042009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:51	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766933000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447389009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119421	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34668	biolink:NamedThing			mondoexuq1wtf																														
DOID:10556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188306000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540389	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018232	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615170	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94719007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188584004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014121	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553330	biolink:NamedThing			mondoexuq1wtf																														
DOID:1639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:299709002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720493003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL448793	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225932	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562467	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205082007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734031008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676095	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004407	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403906006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88264003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209188	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189787000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284594	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535544	biolink:NamedThing			mondoexuq1wtf																														
DOID:10783	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617087	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111397	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402356004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400948003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719139003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225288	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721836009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8619003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080532	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566956	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115149	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16506000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155701001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676781	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537272	biolink:NamedThing			mondoexuq1wtf																														
DOID:10201	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610687	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37295009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267534000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10547	biolink:NamedThing			mondoexuq1wtf																														
DOID:5484	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719512003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266393000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675525	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536368	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201267004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207090	biolink:NamedThing			mondoexuq1wtf																														
DOID:2930	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30144000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155189007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612119	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373587001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:566231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238028008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274433	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715533002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193396007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237733001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187517001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039012	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267531008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278190000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228429	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193846003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22240003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716243005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186182003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127022002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201680	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194427003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195192004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165557006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200532	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193068	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050398	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537824	biolink:NamedThing			mondoexuq1wtf																														
DOID:6906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310743	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1578917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191553009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019693	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65524005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268490	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718756005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193363005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537960	biolink:NamedThing			mondoexuq1wtf																														
DOID:7133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415238003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/551200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279774	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77480004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720859009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64936001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5152	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200899006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154461009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33927004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563869	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021345	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868652	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193463006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48216006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198099006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49248004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205769006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99914	biolink:NamedThing			mondoexuq1wtf																														
DOID:5442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154319002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195193009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:262461007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536965	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17653001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186598001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201440007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719989007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116789	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538040	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:388985009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3389	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C13252	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30512007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716684004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444921008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764997000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861835	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615821	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613744	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91490	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718680001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027832	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39005004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234619000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397400006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124302001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188729005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2075522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267611002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76197007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127040003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715504003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700501	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618596	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3978000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154480006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:146	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123785006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93819009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002284	biolink:NamedThing			mondoexuq1wtf																														
DOID:14125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254885005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154410004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335683	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193460009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195469007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40254	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160740	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187484004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227212	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843153	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080156	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN231077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279754	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003044	biolink:NamedThing	obsolete extraosseous chondrosarcoma	A chondrosarcoma that is located in exclusively soft tissue.	mondoexuq1wtf						NCIt recommended obsoletion.	MONDO:0012825			True		DOID:4549														https://github.com/monarch-initiative/mondo/issues/388				owl:Class
DOID:4549	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2697447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414029004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200568	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90144002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187959005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98920	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25606004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432106	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122796	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198566004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852021	biolink:NamedThing			mondoexuq1wtf																														
DOID:2127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95472001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266650009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6496	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044582	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38739001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41627005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968742	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152204	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537276	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26695	biolink:NamedThing			mondoexuq1wtf																														
DOID:2218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010418	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225158	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47040006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138055	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838570	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5423	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752353	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239934006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110672	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006467	biolink:NamedThing			mondoexuq1wtf																														
DOID:13534	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242584	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047688	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255192005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000072659	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2355645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448954003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0444720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207315006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46970008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275079	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194206006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190741002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367497006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007567	biolink:NamedThing	obsolete Epstein-Barr virus insertion site 1		mondoexuq1wtf	Epstein-Barr virus insertion site 1|EBVS1|Epstein-Barr Virus insertion site type 1|Epstein-Barr VIRUS insertion site 1|Epstein-Barr Virus integration site					Not a disease but a genomic locus.				True		OMIM:132850														https://github.com/monarch-initiative/mondo/issues/1633				owl:Class
UMLS:C1851505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702439002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35813005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711412004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717705004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001742	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79468	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1627	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0028741	biolink:NamedThing	obsolete overgrowth or tall stature syndrome with skeletal involvement		mondoexuq1wtf										True		Orphanet:498448																		owl:Class
SNOMEDCT:266523009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363422006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404162004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93641007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31112	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616840	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447883002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230311004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193036	biolink:NamedThing			mondoexuq1wtf																														
DOID:2424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21638000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85579005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76267008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109355002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446988001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3683791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413219009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195380006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156791003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186953000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226110	biolink:NamedThing			mondoexuq1wtf																														
DOID:9937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191385006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920193	biolink:NamedThing			mondoexuq1wtf																														
DOID:4388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854159	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734173003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608184	biolink:NamedThing			mondoexuq1wtf																														
DOID:12282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154598008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268177006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110485	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090111	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154692004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449627008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855644	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156273	biolink:NamedThing			mondoexuq1wtf																														
DOID:7505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167950	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157525008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4584002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7699004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193815002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717954003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725287006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1413785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721017000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:120639003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409977	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308993	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1597	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565614	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4592	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36461	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193144002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190362004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725588002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126809003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92817004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8145008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99935	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404041003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060601	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77912009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363493006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518796	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718188007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611544	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52457000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335983	biolink:NamedThing			mondoexuq1wtf																														
DOID:2889	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1271009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155088	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24369008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344503	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0541719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703284009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836797	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203646004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206635	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047715	biolink:NamedThing			mondoexuq1wtf																														
DOID:2785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699254009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189896007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:433691000124104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:163596002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129104009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604211	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1574	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165524009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300676	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000794	biolink:NamedThing	obsolete beta-lactam allergy	A allergy involving a beta-lactam.	mondoexuq1wtf	beta-lactam allergic disease|allergy of beta-lactam	MONDO:outOfScope								True		DOID:0060519														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15890002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155270000	biolink:NamedThing			mondoexuq1wtf																														
DOID:14548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201955	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006957	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060429	biolink:NamedThing			mondoexuq1wtf																														
DOID:2516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13239	biolink:NamedThing			mondoexuq1wtf																														
DOID:10376	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125574005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610805	biolink:NamedThing			mondoexuq1wtf																														
DOID:11337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:232	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84828003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82639001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060323	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564869	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123973009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608840	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014565	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84646	biolink:NamedThing			mondoexuq1wtf																														
DOID:3106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192983009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796547	biolink:NamedThing			mondoexuq1wtf																														
DOID:10762	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53084003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334505	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066017	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52572004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270726	biolink:NamedThing			mondoexuq1wtf																														
DOID:1039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189097004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276701009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34365005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193280007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240622007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237604008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN895594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702427005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190772003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN757794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93854002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399625000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190025005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4056	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280692	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751932	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602249	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84241008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060688	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39951	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126499002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93744007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060755	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027191	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721841001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008701	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1952	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7973	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88233000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719818007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94376	biolink:NamedThing			mondoexuq1wtf																														
DOID:1682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205504001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192701001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361115000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722054007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607476	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82423	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193155002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718200007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400822	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262584	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52951008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267743006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187899007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564539	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017922	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618352	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195956002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267476006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27403	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702617007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611804	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858556	biolink:NamedThing			mondoexuq1wtf																														
DOID:2476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072428	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1883694	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565028	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110753	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203146	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44729001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37779008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168593	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026659	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567038	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41565005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050773	biolink:NamedThing			mondoexuq1wtf																														
DOID:9210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340961	biolink:NamedThing			mondoexuq1wtf																														
DOID:11754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205497004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2349994	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1568249	biolink:NamedThing			mondoexuq1wtf																														
DOID:10290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717459000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64764001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854013	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564980	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88075009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719296002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1538326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1622427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261349	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699269005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274781	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9231	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3829122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238905009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614171	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102449007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7363	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188828009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189891002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155937003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83612000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7388	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002016	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3098	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190782002	biolink:NamedThing			mondoexuq1wtf																														
DOID:899	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536723	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060819	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612841	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44318002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361123003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324601	biolink:NamedThing			mondoexuq1wtf																														
DOID:9415	biolink:NamedThing			mondoexuq1wtf																														
DOID:10486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183460	biolink:NamedThing			mondoexuq1wtf																														
DOID:7267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463918	biolink:NamedThing			mondoexuq1wtf																														
DOID:12273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128856005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84801008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719657001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238606	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329242	biolink:NamedThing			mondoexuq1wtf																														
DOID:1332	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334378	biolink:NamedThing			mondoexuq1wtf																														
DOID:2068	biolink:NamedThing			mondoexuq1wtf																														
DOID:11983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2750	biolink:NamedThing			mondoexuq1wtf																														
DOID:5590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268390	biolink:NamedThing			mondoexuq1wtf																														
DOID:7142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343115	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154332007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95208000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398061002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612558	biolink:NamedThing			mondoexuq1wtf																														
DOID:1844	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40075	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34528009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43000004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489795	biolink:NamedThing			mondoexuq1wtf																														
DOID:6405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719016007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155155006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399849	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406556	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386807006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060804	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1112486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535563	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563670	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187075006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201823	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204087006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187004009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849386	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720575002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849055	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110823	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4538795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193469005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198213001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154069	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562903	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93985007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126976007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155510007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564404	biolink:NamedThing			mondoexuq1wtf																														
DOID:1926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92404006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126954003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:223176004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1413996	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240081004	biolink:NamedThing			mondoexuq1wtf																														
DOID:859	biolink:NamedThing			mondoexuq1wtf																														
DOID:1219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47507006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014656	biolink:NamedThing			mondoexuq1wtf																														
DOID:4112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:249242001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070189	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254825007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:233	biolink:NamedThing			mondoexuq1wtf																														
DOID:9132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267830000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2243090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197498	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000780	biolink:NamedThing	obsolete apricot allergy	A allergy involving a Prunus armeniaca.	mondoexuq1wtf	Prunus armeniaca allergic disease|Prunus armeniaca fruit allergy|Prunus armeniaca caused allergic disease|allergy of Prunus armeniaca	MONDO:outOfScope								True		DOID:0060505														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3900100	biolink:NamedThing			mondoexuq1wtf																														
DOID:9496	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91140	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6476	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615401	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765170001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94102002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190999009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150411	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:512260	biolink:NamedThing			mondoexuq1wtf																														
DOID:4043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191306005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363511009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21983002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3928002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563856	biolink:NamedThing			mondoexuq1wtf																														
DOID:6404	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266219000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2588	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237968007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2985	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004819	biolink:NamedThing			mondoexuq1wtf																														
DOID:2394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2198	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4545229	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47709007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79177001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763310000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931123	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263887	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553730	biolink:NamedThing			mondoexuq1wtf																														
DOID:6522	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279786	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432122	biolink:NamedThing			mondoexuq1wtf																														
DOID:3133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268119	biolink:NamedThing			mondoexuq1wtf																														
DOID:14507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715340002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254918001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33163000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35701	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060798	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44519006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193449000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969024	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204494	biolink:NamedThing			mondoexuq1wtf																														
DOID:5052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206520003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554279	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153400	biolink:NamedThing			mondoexuq1wtf																														
DOID:11730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197005008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032249	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156720008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204111004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18854008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189233005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280914	biolink:NamedThing			mondoexuq1wtf																														
DOID:13348	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269534006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751739	biolink:NamedThing			mondoexuq1wtf																														
DOID:13929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155621007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156327009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4017065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194772005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:147371000119101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466806	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043626	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832588	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272199	biolink:NamedThing			mondoexuq1wtf																														
DOID:381	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302162004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3251797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30292005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733467001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205809002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64716005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85171	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3810	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28536002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6077	biolink:NamedThing			mondoexuq1wtf																														
DOID:9601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034734	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227280	biolink:NamedThing			mondoexuq1wtf																														
DOID:2965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718712005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268556	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30369007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720980004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931742	biolink:NamedThing			mondoexuq1wtf																														
DOID:12241	biolink:NamedThing			mondoexuq1wtf																														
DOID:7437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51464001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2957	biolink:NamedThing			mondoexuq1wtf																														
DOID:4858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418134006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432215	biolink:NamedThing			mondoexuq1wtf																														
DOID:8516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186774005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98669	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040086	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609307	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048676	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3437	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020432	biolink:NamedThing			mondoexuq1wtf																														
DOID:472	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562716	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253298003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186470002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198610008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970117	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000797	biolink:NamedThing	obsolete goat milk allergy	A allergy involving goat milk.	mondoexuq1wtf	Capra hircus milk allergy|allergy of goat dairy food product|goat dairy food product allergic disease	MONDO:outOfScope								True		DOID:0060522														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864275	biolink:NamedThing			mondoexuq1wtf																														
DOID:4066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196651004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149378	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17024001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN353477	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931453	biolink:NamedThing			mondoexuq1wtf																														
DOID:1943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277440	biolink:NamedThing			mondoexuq1wtf																														
DOID:6114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859394	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060456	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3892049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92308005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400059005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424728002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11530004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9741000119101	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40411000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618247	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4608	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720954000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613606	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832229	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080360	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:166733000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060061	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538341	biolink:NamedThing			mondoexuq1wtf																														
DOID:10241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840365	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002836	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363451005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6758	biolink:NamedThing			mondoexuq1wtf																														
DOID:3173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN072436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245552	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34540	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3448	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836898	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49607006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318518	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060760	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195382003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:116021002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193627002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191770003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190752008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835309	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726672000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155315001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715420005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014291	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564042	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968893	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53557	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59298	biolink:NamedThing			mondoexuq1wtf																														
DOID:2044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26665006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76160002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400036004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722223000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18901009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237292005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764520001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92563	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111242	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263550	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251937	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080477	biolink:NamedThing			mondoexuq1wtf																														
DOID:5697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155111000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614940	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206743	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563654	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059885	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403971002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446641003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702949005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766716004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540052	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012614	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4072	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007669	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618494	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432549	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606708	biolink:NamedThing			mondoexuq1wtf																														
DOID:11720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043595	biolink:NamedThing			mondoexuq1wtf																														
DOID:4430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75979009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601666	biolink:NamedThing			mondoexuq1wtf																														
DOID:11239	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564091	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190745006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856788	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432365	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536068	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155263000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254694002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837929	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87920002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35476	biolink:NamedThing			mondoexuq1wtf																														
DOID:3278	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4330935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204102004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359557001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867398	biolink:NamedThing			mondoexuq1wtf																														
DOID:13127	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143460	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274907000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239085000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194245001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2355625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6943	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203779	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164472	biolink:NamedThing			mondoexuq1wtf																														
DOID:2458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725416005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554111	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62601	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111589005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76520005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111507009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715904005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266010	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89242004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265349	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564653	biolink:NamedThing			mondoexuq1wtf																														
DOID:2275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766049000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194664001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149845	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192862004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68241007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618480	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044244	biolink:NamedThing	obsolete nail low-sulfur protein		mondoexuq1wtf	nail LOW-sulfur PROTEIN					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:161080																		owl:Class
UMLS:C1834403	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720635002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723611008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3752003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41954005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236778008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4372	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263666	biolink:NamedThing			mondoexuq1wtf																														
DOID:13924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201596002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862100	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034764	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48008009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850746	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110951	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2940785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155671005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865134	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84939	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563815	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931298	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717191005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535639	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8912009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194729004	biolink:NamedThing			mondoexuq1wtf																														
DOID:7042	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606658	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6161	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617871	biolink:NamedThing			mondoexuq1wtf																														
DOID:6278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151467	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0232867	biolink:NamedThing			mondoexuq1wtf																														
DOID:10803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155558003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189107007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764100007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719810000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238015	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200912002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11963	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269595005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239252	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862323	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050959	biolink:NamedThing			mondoexuq1wtf																														
DOID:12707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032298	biolink:NamedThing			mondoexuq1wtf																														
DOID:10974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87764000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156812003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5241	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720500008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796189	biolink:NamedThing			mondoexuq1wtf																														
DOID:863	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48724000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565730	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795936	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371235	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17182001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332911	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4157	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281235	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863703	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211062	biolink:NamedThing			mondoexuq1wtf																														
DOID:7347	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235750	biolink:NamedThing			mondoexuq1wtf																														
DOID:4661	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057049	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198223005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141234	biolink:NamedThing			mondoexuq1wtf																														
DOID:4810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709415008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111470007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142969008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715561008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617166	biolink:NamedThing			mondoexuq1wtf																														
DOID:10200	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018352	biolink:NamedThing			mondoexuq1wtf																														
DOID:6552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233815004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4593	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535975	biolink:NamedThing			mondoexuq1wtf																														
DOID:4637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718174008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402919000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292776	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85807000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:525738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403825008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55995005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725141006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7792000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540395	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510961	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060741	biolink:NamedThing			mondoexuq1wtf																														
DOID:13812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89980009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:144021008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43339004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70385007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154659005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336703	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87872006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268180007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:747	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:567	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129154003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4521564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860551	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41308008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187722004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203181001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85559002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2271	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565437	biolink:NamedThing			mondoexuq1wtf																														
DOID:6872	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254926009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27198	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006272	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565374	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005681	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C3277090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715633008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4317126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254701007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194359006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856057	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018888	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537935	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834659	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193098	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050308	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040517	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536102	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001991	biolink:NamedThing			mondoexuq1wtf																														
DOID:11615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4317224	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:841	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725164008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6446	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#implicit_genetic_in_ordo	biolink:NamedThing			mondoexuq1wtf						in ORDO this is classified as genetic even though the class is used for non-genetic disorders																								owl:AnnotationProperty
UMLS:CN206759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44897000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271199009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2584620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C14089	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304594	biolink:NamedThing			mondoexuq1wtf																														
DOID:12246	biolink:NamedThing			mondoexuq1wtf																														
DOID:5829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:583861	biolink:NamedThing			mondoexuq1wtf																														
DOID:6408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195001000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750071	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607967	biolink:NamedThing			mondoexuq1wtf																														
DOID:3300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859587	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060275	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186884004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19877001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284180	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006053	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025325	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236746000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27431007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38993008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2306	biolink:NamedThing			mondoexuq1wtf																														
DOID:3544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609260	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35089004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703654008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194238001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111521006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187601000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155145	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69093006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3159311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193019007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266400008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673612	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022681	biolink:NamedThing			mondoexuq1wtf																														
DOID:746	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300558	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295195	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310629	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3508009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152945	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310679	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612335	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22784002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:898	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721089006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070320	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225225	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003267	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194240006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390002007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612624	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608571	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538027	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723508002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230591002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201090001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4797003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187214007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193279009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267862002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27720003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3263723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721306009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297233004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566196	biolink:NamedThing			mondoexuq1wtf																														
DOID:11389	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152196	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195993008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70995007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153489	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38976008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717014003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399047004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3827253	biolink:NamedThing			mondoexuq1wtf																														
DOID:5536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91662004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6630	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267559009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3754	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157025003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237663	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29422001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266398009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18861007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN233040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765197008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567791	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931650	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537530	biolink:NamedThing			mondoexuq1wtf																														
DOID:5727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240513	biolink:NamedThing			mondoexuq1wtf																														
DOID:12524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717918002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191762008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2884008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479208	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237299001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3728	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20072003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267615006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685201	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565690	biolink:NamedThing			mondoexuq1wtf																														
DOID:12958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562725	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99920	biolink:NamedThing			mondoexuq1wtf																														
DOID:7444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186260002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843247	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110815	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26360005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266639006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59078009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717181004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711153001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232250008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766753005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187121003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84399007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34783	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278833002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4505102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338106	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D064068	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715491000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997249	biolink:NamedThing			mondoexuq1wtf																														
DOID:2517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396892009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286934009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98616	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187268002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30789005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53619000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9952	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:753	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006125	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C1864621	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060436	biolink:NamedThing			mondoexuq1wtf																														
DOID:7631	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155552002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718183003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68	biolink:NamedThing			mondoexuq1wtf																														
DOID:7532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201165000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805239	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85375000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268262	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835662	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268274005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1187	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165652	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221207	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26847	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0231341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268125	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66751000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84482	biolink:NamedThing			mondoexuq1wtf																														
DOID:13003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722002002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35520007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037231	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93780007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155069009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155672003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617920	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859616	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C167195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614856	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59275002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931296	biolink:NamedThing			mondoexuq1wtf																														
DOID:7459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254199006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4521563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109130	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612353	biolink:NamedThing			mondoexuq1wtf																														
DOID:13620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206724	biolink:NamedThing			mondoexuq1wtf																														
DOID:11382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29731002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27194006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853392	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3777	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C93210	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768553002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313906	biolink:NamedThing			mondoexuq1wtf																														
DOID:7698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414658000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172500	biolink:NamedThing			mondoexuq1wtf																														
DOID:10366	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230306001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564173	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194121009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94086000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4110	biolink:NamedThing			mondoexuq1wtf																														
MESH:C575214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715901002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732250002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126902008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110706	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030327	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733095006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52985009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110184	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564467	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017825	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336905	biolink:NamedThing			mondoexuq1wtf																														
DOID:5000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237249000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403976007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154451002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194376005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193360008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C107101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274138	biolink:NamedThing			mondoexuq1wtf																														
DOID:9870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863649	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187247003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98962	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6011000119108	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033657	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267431006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28987007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193041007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535423	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050559	biolink:NamedThing			mondoexuq1wtf																														
DOID:5182	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037114	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796072	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685837	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402587003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849771	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193353002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931546	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN544763	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4979002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721105004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70921007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25511009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99048	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58795000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4530	biolink:NamedThing			mondoexuq1wtf																														
DOID:11241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617900	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217720	biolink:NamedThing			mondoexuq1wtf																														
DOID:2951	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314399	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21119008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207643008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52337003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398995000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612241	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563975	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156383005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564856	biolink:NamedThing			mondoexuq1wtf																														
DOID:1826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403401007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711387	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602197	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193784002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268542	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605803	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55850004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763203009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763479005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186810001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:150541000119104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68996008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35735	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008732	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567403	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105649009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99657	biolink:NamedThing			mondoexuq1wtf																														
DOID:14080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17890003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562628	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206066	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276799004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237537	biolink:NamedThing			mondoexuq1wtf																														
DOID:8771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717827000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565620	biolink:NamedThing			mondoexuq1wtf																														
DOID:1811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266599	biolink:NamedThing			mondoexuq1wtf																														
DOID:12475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280524	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050976	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5178002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537490	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763218005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7487	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191302007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245130	biolink:NamedThing			mondoexuq1wtf																														
DOID:730	biolink:NamedThing			mondoexuq1wtf																														
DOID:1459	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240453002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537446	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195432009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193131	biolink:NamedThing			mondoexuq1wtf																														
DOID:2988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010701	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7401	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717231003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266238009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66149005	biolink:NamedThing			mondoexuq1wtf																														
DOID:10154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187097008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70798001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717913006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94103007	biolink:NamedThing			mondoexuq1wtf																														
DOID:9888	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27401	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41382006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134177009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199152	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566951	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618773	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536545	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187867001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79146	biolink:NamedThing			mondoexuq1wtf																														
DOID:543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266086006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1539278	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848296	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7483	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274900	biolink:NamedThing			mondoexuq1wtf																														
DOID:308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205550003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855714	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70129008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2713	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61665008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33970004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87049008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751640	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535385	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240820001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276413	biolink:NamedThing			mondoexuq1wtf																														
DOID:11269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97238	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88621	biolink:NamedThing			mondoexuq1wtf																														
DOID:11162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333051	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79359001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3222	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99114	biolink:NamedThing			mondoexuq1wtf																														
DOID:5665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35929003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1622502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563636	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6891	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21848000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226292	biolink:NamedThing			mondoexuq1wtf																														
DOID:5426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970198	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120435	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84645	biolink:NamedThing			mondoexuq1wtf																														
DOID:5396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1883040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764630003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748557	biolink:NamedThing			mondoexuq1wtf																														
DOID:8729	biolink:NamedThing			mondoexuq1wtf																														
DOID:5151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:108369006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:258	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614836	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678494	biolink:NamedThing			mondoexuq1wtf																														
DOID:6706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449270002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D023981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722056009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432262	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858712	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238670	biolink:NamedThing			mondoexuq1wtf																														
DOID:3571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4146	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93850006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227310	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202999	biolink:NamedThing			mondoexuq1wtf																														
DOID:10651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236053002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154838000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439897	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128629005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4325	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69478001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71709009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1714005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563798	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439854	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26952	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535955	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111652	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300484	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86914	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848407	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123843001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22125009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848903	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191124002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763830009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617070	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020623	biolink:NamedThing	obsolete blood group--ul system		mondoexuq1wtf	BLOOD GROUP--Ul SYSTEM|UL									True		OMIM:112000																		owl:Class
UMLS:C1862192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204956007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430506003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1272167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269513004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37350004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252650	biolink:NamedThing			mondoexuq1wtf																														
DOID:11714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156977001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186110004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128669006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339540	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431380	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711329002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029077	biolink:NamedThing			mondoexuq1wtf																														
DOID:8354	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265150	biolink:NamedThing			mondoexuq1wtf																														
DOID:3086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188993006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050765	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080124	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564181	biolink:NamedThing			mondoexuq1wtf																														
DOID:6477	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110716	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566708	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300813	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9266000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90068	biolink:NamedThing			mondoexuq1wtf																														
DOID:345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150892	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335678	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050944	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93946000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93284	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019052	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721074002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0575897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764435003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308860001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251940	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404109006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409709004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371188	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1761006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427232004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537477	biolink:NamedThing			mondoexuq1wtf																														
DOID:7402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699256006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85193	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:840539006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246865000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281127	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111250	biolink:NamedThing			mondoexuq1wtf																														
DOID:14133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280529	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169443	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567472	biolink:NamedThing			mondoexuq1wtf																														
DOID:3218	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128918008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193167000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536601	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007348	biolink:NamedThing	obsolete colchicine resistance		mondoexuq1wtf	colchicine resistance|colchicine sensitivity									True		UMLS:C1861502|OMIM:120080																		owl:Class
UMLS:C1861502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300903	biolink:NamedThing			mondoexuq1wtf																														
DOID:6065	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618613	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404022001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52868006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11341	biolink:NamedThing			mondoexuq1wtf																														
DOID:13353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4707448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254711000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766929007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1556	biolink:NamedThing			mondoexuq1wtf																														
DOID:76	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970291	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9105	biolink:NamedThing			mondoexuq1wtf																														
DOID:3846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763668009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111227009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189965002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196361004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254905	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751756	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105210	biolink:NamedThing			mondoexuq1wtf																														
DOID:13574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91612009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280642	biolink:NamedThing			mondoexuq1wtf																														
DOID:3577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718224004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93664009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363449006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266483008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312905005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266543003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94829	biolink:NamedThing			mondoexuq1wtf																														
DOID:6025	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126769007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186779000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92115005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83453001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270885004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606163	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864872	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070319	biolink:NamedThing			mondoexuq1wtf																														
DOID:8068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345613	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93269	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98590	biolink:NamedThing			mondoexuq1wtf																														
DOID:14271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719380003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719452004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279637	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194051001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93666006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN234734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266636004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:315058005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156305000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238825007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198553004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220989	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227194	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080534	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050183	biolink:NamedThing			mondoexuq1wtf																														
DOID:1795	biolink:NamedThing			mondoexuq1wtf																														
DOID:13687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6455	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238016000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2213246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866958	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363403002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362970003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187502000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711159002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1882229	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254634000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4639008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220624	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61277	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96150	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403554008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725165009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206685	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN031291	biolink:NamedThing			mondoexuq1wtf																														
DOID:3017	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602491	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536003	biolink:NamedThing			mondoexuq1wtf																														
DOID:594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837697	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614915	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850569	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205806009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014264	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445238008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537372	biolink:NamedThing			mondoexuq1wtf																														
MESH:D023903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200580005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79185	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614262	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5135	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17372009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196680008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86204009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1475003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295075	biolink:NamedThing			mondoexuq1wtf																														
DOID:2053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64351000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050727	biolink:NamedThing			mondoexuq1wtf																														
DOID:4708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342748	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060767	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63398001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11818	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194284006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38151	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205506004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193264002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300980002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226154	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766764008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1504412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617809	biolink:NamedThing			mondoexuq1wtf																														
DOID:5702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444830001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192871008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617607	biolink:NamedThing			mondoexuq1wtf																														
DOID:4794	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715797002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151640	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201681	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155400001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98951	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6784	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718218005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83118000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198090005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200518	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359811007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:167714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717789008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10573002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14224	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050951	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850901	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41225007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611426	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110601	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613694	biolink:NamedThing			mondoexuq1wtf																														
DOID:13499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1148546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36871005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109964000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59890007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286909009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111738008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155950	biolink:NamedThing			mondoexuq1wtf																														
DOID:9169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373717006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698837003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:47612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78569004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194802003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202892006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278697001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859594	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050383	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848922	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34960006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7773002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080264	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763135001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2988	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009186	biolink:NamedThing			mondoexuq1wtf																														
DOID:13033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763129001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387759001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195225002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718097008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129071	biolink:NamedThing			mondoexuq1wtf																														
DOID:538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565221	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254986007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187626009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192567003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853195	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5695	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605642	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18927009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535832	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4013950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601341	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000881	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070086	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613695	biolink:NamedThing			mondoexuq1wtf																														
DOID:5384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254731001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294949	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67883005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198200007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537450	biolink:NamedThing			mondoexuq1wtf																														
DOID:6446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719164000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38708003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718572004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193995004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202050	biolink:NamedThing			mondoexuq1wtf																														
DOID:8106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44598004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205648	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535632	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:712657002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:595356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333790	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136540	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198902005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66187002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64715009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/279000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300851	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4222	biolink:NamedThing			mondoexuq1wtf																														
DOID:2095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372098004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619255	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110237	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080625	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537270	biolink:NamedThing			mondoexuq1wtf																														
DOID:11988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440354	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066430	biolink:NamedThing			mondoexuq1wtf																														
DOID:7479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204326006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3165	biolink:NamedThing			mondoexuq1wtf																														
DOID:13080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240808009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060862	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26870	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969639	biolink:NamedThing			mondoexuq1wtf																														
DOID:10845	biolink:NamedThing			mondoexuq1wtf																														
DOID:1242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25671008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0239295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334495	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281034005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158997	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8501	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563542	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4320005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98793	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247861	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111087	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60525009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274947007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280598	biolink:NamedThing			mondoexuq1wtf																														
DOID:8292	biolink:NamedThing			mondoexuq1wtf																														
DOID:2994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150946	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013366	biolink:NamedThing			mondoexuq1wtf																														
DOID:1003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719834005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720604008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35064	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123021	biolink:NamedThing			mondoexuq1wtf																														
DOID:496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58703003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720459002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618283	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301811001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6311	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205823	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50839	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C163755	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1383	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:249808002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702351004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36504009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35737	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012410	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201150001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2321	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7612	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:548	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236806004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186184002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1175	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050807	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92564006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718573009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372106005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432321	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489790	biolink:NamedThing			mondoexuq1wtf																														
DOID:8461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267865000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39479004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22607003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48620000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254534	biolink:NamedThing			mondoexuq1wtf																														
DOID:6886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36371	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008368	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060072	biolink:NamedThing			mondoexuq1wtf																														
DOID:12028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21954000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194161005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032339	biolink:NamedThing			mondoexuq1wtf																														
DOID:10440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363314	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363654	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070347	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127230005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34524	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363354003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61794006	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044251	biolink:NamedThing	obsolete australia antigen		mondoexuq1wtf	Australia antigen					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:209800																		owl:Class
http://identifiers.org/omim/209800	biolink:NamedThing			mondoexuq1wtf																														
DOID:3697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310833	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60136008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300607	biolink:NamedThing			mondoexuq1wtf																														
DOID:8259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868575	biolink:NamedThing			mondoexuq1wtf																														
DOID:1934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31097004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423486005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98023	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255037004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859528	biolink:NamedThing			mondoexuq1wtf																														
DOID:1911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239140003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227273	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86143001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:92	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93455	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237614004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:407	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN593636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253737007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190952002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329660	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48480005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566718	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22689002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128099001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20852007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1880119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238436005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187759003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34657	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600776	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420054005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126732009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336726	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34421	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006255	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307361005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131296	biolink:NamedThing			mondoexuq1wtf																														
DOID:5813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276544005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96477	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536945	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67653003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864100	biolink:NamedThing			mondoexuq1wtf																														
DOID:9423	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725138002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98049	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003323	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725289009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2944	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254670002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206436004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75474006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201813004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:202940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2985175	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037280	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197601003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844776	biolink:NamedThing			mondoexuq1wtf																														
DOID:4442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616059	biolink:NamedThing			mondoexuq1wtf																														
DOID:3529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29538005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564696	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:544503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279661	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080549	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198215008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93669004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605735	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3405	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69279006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615434	biolink:NamedThing			mondoexuq1wtf																														
DOID:1681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613494	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11938002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154425004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393585001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014310	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156083001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30767006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188230001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600458	biolink:NamedThing			mondoexuq1wtf																														
DOID:4278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268074002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187880003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796241	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931888	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84986	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240447002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267692008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:486	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75694006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766707003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195252007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3710589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007766	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126958000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054179	biolink:NamedThing			mondoexuq1wtf																														
MESH:D042883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35703	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233721005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3464	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155411	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74107003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60657004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399477001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109843000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN073989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45855004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8197001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615444	biolink:NamedThing			mondoexuq1wtf																														
DOID:6274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81143000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614814	biolink:NamedThing			mondoexuq1wtf																														
DOID:8507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834870	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006962	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024544	biolink:NamedThing	obsolete Heimler syndrome 1		mondoexuq1wtf	hearing loss, sensorineural, with enamel hypoplasia and nail defects|HEIMLER syndrome 1|peroxisome biogenesis disorder 1C|HMLR1	out of scope					MONDO:0100259			True		DOID:0080623|OMIM:234580														https://github.com/monarch-initiative/mondo/issues/3222				owl:Class
DOID:0080623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363497007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4072935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328843	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:555905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389982003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267564008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707411007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18546004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57917004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128760004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720860	biolink:NamedThing			mondoexuq1wtf																														
DOID:3747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719204007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854971	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93151007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020981	biolink:NamedThing			mondoexuq1wtf																														
DOID:1380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708518001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005859	biolink:NamedThing			mondoexuq1wtf																														
DOID:4176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17264009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734066005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403969002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617866	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276941	biolink:NamedThing			mondoexuq1wtf																														
DOID:288	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565858	biolink:NamedThing			mondoexuq1wtf																														
DOID:3947	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155846005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266121	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059547	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733085004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0497243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237496	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51868009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267475005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240686008	biolink:NamedThing			mondoexuq1wtf																														
DOID:6590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18620009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403434009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722008003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33820001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304672	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189459005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205417000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861980	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449842	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721973006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0014667	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52812002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128498000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55056006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608646	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566670	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237850008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83942000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850109	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060733	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665365	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763347000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157024004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186534002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016918	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17144009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716338001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300293	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001264	biolink:NamedThing			mondoexuq1wtf																														
DOID:4934	biolink:NamedThing			mondoexuq1wtf																														
DOID:4813	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005877	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1104	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190608007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27778	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92080005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432268	biolink:NamedThing			mondoexuq1wtf																														
DOID:7146	biolink:NamedThing			mondoexuq1wtf																														
DOID:1441	biolink:NamedThing			mondoexuq1wtf																														
DOID:2575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94331	biolink:NamedThing			mondoexuq1wtf																														
DOID:4106	biolink:NamedThing			mondoexuq1wtf																														
DOID:2401	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987239	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398447004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193124	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78590007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4242	biolink:NamedThing			mondoexuq1wtf																														
DOID:3533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796046	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190035004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0596773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338070	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716106000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535974	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212138	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619183	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565837	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176250	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068836	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1784	biolink:NamedThing			mondoexuq1wtf																														
DOID:4086	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535779	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C13184	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:640	biolink:NamedThing			mondoexuq1wtf																														
DOID:2349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230260007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8956	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110503	biolink:NamedThing			mondoexuq1wtf																														
DOID:11748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795902	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154672006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206042	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:288201007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841639	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080711	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1443900	biolink:NamedThing			mondoexuq1wtf																														
DOID:4473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765187004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4120002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151303	biolink:NamedThing			mondoexuq1wtf																														
DOID:1596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720819006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346340	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566719	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192908002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203394008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156054004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618707	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564797	biolink:NamedThing			mondoexuq1wtf																														
DOID:11996	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363413005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47230004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015128	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123790	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618959	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51040009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718634003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850954	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158234002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0865849	biolink:NamedThing			mondoexuq1wtf																														
DOID:5392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254129003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188659009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95637005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21426000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85448	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44268007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97231	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536321	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000793	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158159	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716653001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93687001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1717	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314022	biolink:NamedThing			mondoexuq1wtf																														
DOID:5058	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85282	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1948	biolink:NamedThing			mondoexuq1wtf																														
DOID:7651	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002095	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399882002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056887	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126849006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29352008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190961002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311221	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513721	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538109	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009825	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080069	biolink:NamedThing			mondoexuq1wtf																														
DOID:3703	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715865008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35065006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720851007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363485006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92318000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154986008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240699006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204322008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274970	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30577005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN238808	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:412787009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085695	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617639	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419395007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543859	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397513003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363459007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615993	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716378008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300514	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128685001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416441004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853230	biolink:NamedThing			mondoexuq1wtf																														
DOID:12798	biolink:NamedThing			mondoexuq1wtf																														
DOID:1002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75352001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193645002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122860	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126848003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128625004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111349000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268128	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371582002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98867	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726363000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852023	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68478007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261222	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72991005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274343	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201101007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399029005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114827	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336518	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060577	biolink:NamedThing			mondoexuq1wtf																														
DOID:11153	biolink:NamedThing			mondoexuq1wtf																														
DOID:615	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269555008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111233	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042335	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251307	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562592	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0060649	biolink:NamedThing	obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		mondoexuq1wtf				MONDO:0100297		Split into OMIMPS and subclass.				True																https://github.com/monarch-initiative/mondo/issues/2758				owl:Class
SNOMEDCT:703542000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332533	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410606	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018366	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618792	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564423	biolink:NamedThing			mondoexuq1wtf																														
DOID:1060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253231007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153943	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616435	biolink:NamedThing			mondoexuq1wtf																														
DOID:7941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190917005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16872008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10736002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869122	biolink:NamedThing			mondoexuq1wtf																														
MESH:D028226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931381	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614390	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110621	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154614002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726708009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28103007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93259	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833382	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92622	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613810	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35177	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69408002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396285007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38513001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403445	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15188001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266352008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011645	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931689	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406419	biolink:NamedThing			mondoexuq1wtf																														
DOID:4972	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014137	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:950	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006563	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81089005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410042009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854698	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302820008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C46105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254145001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713401006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110421	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3227	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332535	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276876007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617156	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11543004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409563004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169349	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763405000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201229002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842197	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018178	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2856	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3159322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193049009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050877	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234583001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123952009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189867006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73757007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74561007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239039003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080132	biolink:NamedThing			mondoexuq1wtf																														
DOID:7037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126971002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111385000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535695	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616452	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36653000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83217000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281561000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72621003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861630	biolink:NamedThing			mondoexuq1wtf																														
DOID:6652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98096	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111936002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854982	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616455	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254883003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248108005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52503	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602124	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113484	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012772	biolink:NamedThing			mondoexuq1wtf																														
DOID:6564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240783007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70555003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264207005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1894	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060257	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007760	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080125	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724555000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563693	biolink:NamedThing			mondoexuq1wtf																														
DOID:12270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34671005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376549	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607540	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810403	biolink:NamedThing			mondoexuq1wtf																														
DOID:14547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3812899	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15202009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600907	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554540	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266363006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341702	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155711008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442348004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399528006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1609538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050906	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193882008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194045006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702406000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93939009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67073007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89239005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111354009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4284093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805879	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9474	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565734	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1836	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60620005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45083001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234062003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564808	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060283	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2140	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21984008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517109	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:153261000119109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90399	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240518007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417563003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188694002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477797	biolink:NamedThing			mondoexuq1wtf																														
DOID:512	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265278	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006831	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111864006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95566004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254125009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28656008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254025006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:177926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676048	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95333004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111255008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023470	biolink:NamedThing			mondoexuq1wtf																														
DOID:11569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733071009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109420003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1419610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155094005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1829003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151476	biolink:NamedThing			mondoexuq1wtf																														
DOID:653	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343052	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:304055	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99027	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719046005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0300948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190967003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11296007	biolink:NamedThing			mondoexuq1wtf																														
DOID:14418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722111004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79974007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192727001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618667	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616171	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615995	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN671931	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1450051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189863005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020620	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003685	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140969	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036062	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194889005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155906003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542643	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536114	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252046	biolink:NamedThing			mondoexuq1wtf																														
DOID:4641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:461	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725413002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189194008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201411009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72315009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839579	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163582	biolink:NamedThing			mondoexuq1wtf																														
DOID:2021	biolink:NamedThing			mondoexuq1wtf																														
DOID:5395	biolink:NamedThing			mondoexuq1wtf																														
DOID:8930	biolink:NamedThing			mondoexuq1wtf																														
MESH:D035583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:555877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234131004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65508009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613913	biolink:NamedThing			mondoexuq1wtf																														
DOID:4521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239824003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3668940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128980	biolink:NamedThing			mondoexuq1wtf																														
DOID:8549	biolink:NamedThing			mondoexuq1wtf																														
DOID:8501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186945008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764994007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080058	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161080	biolink:NamedThing			mondoexuq1wtf																														
DOID:1386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018414	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363406005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723582004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080279	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227644	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93689003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:47045	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128816008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254557000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239032007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343068	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056733	biolink:NamedThing			mondoexuq1wtf																														
DOID:5591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006413	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032807	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237773	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565367	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716097001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85051	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050740	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023376	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41495000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168769	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248340	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227225	biolink:NamedThing			mondoexuq1wtf																														
DOID:3763	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268328009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494181	biolink:NamedThing			mondoexuq1wtf																														
DOID:2348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271502000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76593002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7061	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537916	biolink:NamedThing			mondoexuq1wtf																														
DOID:486	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466718	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537425	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25674000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262887	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268762	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248525	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722478008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853136	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060544	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2197	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300919	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199879009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190510000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151622	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253957000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16726004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795996	biolink:NamedThing			mondoexuq1wtf																														
DOID:9858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69110006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254058002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005693	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6791	biolink:NamedThing			mondoexuq1wtf																														
DOID:7806	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155587002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235602008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16934004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7723	biolink:NamedThing			mondoexuq1wtf																														
DOID:2685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506060	biolink:NamedThing			mondoexuq1wtf																														
DOID:11897	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398136003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6204001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19341001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111723	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5244003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563930	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27135	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300491	biolink:NamedThing			mondoexuq1wtf																														
DOID:13276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518693	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187192000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40155	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764861005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6786	biolink:NamedThing			mondoexuq1wtf																														
DOID:3905	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39553005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193971001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27494	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86003009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90059	biolink:NamedThing			mondoexuq1wtf																														
DOID:3575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614810	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005128	biolink:NamedThing	obsolete sensory system disease	A disease involving the sensory system.	mondoexuq1wtf	sensory disease|disorder of sensory system|disease of sensory system|sensory system disease or disorder|disease or disorder of sensory system|sensory system disease									True		EFO:0001058|DOID:0050155														https://github.com/monarch-initiative/mondo/issues/823				owl:Class
MESH:C564490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8549006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/556500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266544009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31248004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194760004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268314	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0947622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227722	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619041	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027974	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2711266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68556002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1418533	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154189	biolink:NamedThing			mondoexuq1wtf																														
DOID:2346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642347	biolink:NamedThing			mondoexuq1wtf																														
DOID:9854	biolink:NamedThing			mondoexuq1wtf																														
DOID:2910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0577692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196614005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN221574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155262005	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0040964	biolink:NamedThing	obsolete superimposed infection		mondoexuq1wtf	suprainfection|superimposed infection|superadded infection									True		SCTID:193198003|UMLS:C0038826																		owl:Class
SNOMEDCT:193198003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:87884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:805002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203403	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300301	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1561643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45935001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295175	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566585	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011401	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617563	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003803	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22199006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399244003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:204	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26722	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013262	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255144005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234446004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618828	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190862008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190794006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333748	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84883	biolink:NamedThing			mondoexuq1wtf																														
DOID:8663	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60189009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612645	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536718	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015593	biolink:NamedThing			mondoexuq1wtf																														
DOID:3713	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163665	biolink:NamedThing			mondoexuq1wtf																														
DOID:4346	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334576	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1123023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92123007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143400	biolink:NamedThing			mondoexuq1wtf																														
DOID:7578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27730	biolink:NamedThing			mondoexuq1wtf																														
DOID:3199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134333006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237611007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703199001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612780	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1417292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85192	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607931	biolink:NamedThing			mondoexuq1wtf																														
DOID:8687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616439	biolink:NamedThing			mondoexuq1wtf																														
DOID:5381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90496008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614504	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347016	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269505	biolink:NamedThing			mondoexuq1wtf																														
DOID:11725	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567705	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65545003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54249004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165988	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009221	biolink:NamedThing			mondoexuq1wtf																														
DOID:13951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618141	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280587	biolink:NamedThing			mondoexuq1wtf																														
DOID:2519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194884000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67495	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363452003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280798	biolink:NamedThing			mondoexuq1wtf																														
DOID:11755	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334499	biolink:NamedThing			mondoexuq1wtf																														
DOID:4908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206636	biolink:NamedThing			mondoexuq1wtf																														
DOID:9384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0542428	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187700006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128060009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89579000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4451	biolink:NamedThing			mondoexuq1wtf																														
DOID:9912	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016585	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166970	biolink:NamedThing			mondoexuq1wtf																														
DOID:12997	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861352	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206706	biolink:NamedThing			mondoexuq1wtf																														
DOID:6680	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68569003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80328002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564411	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050363	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612635	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186754003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48305	biolink:NamedThing			mondoexuq1wtf																														
DOID:13739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60676002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155591007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70476006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614409	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1611706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34348	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566660	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44795003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275944	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336939	biolink:NamedThing			mondoexuq1wtf																														
DOID:1241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234357005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91586009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112688008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403435005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80281	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155770	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111225	biolink:NamedThing			mondoexuq1wtf																														
DOID:10123	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109993000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7413	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003910	biolink:NamedThing			mondoexuq1wtf																														
DOID:2883	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269539001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763061004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766883006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2474	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397016004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28790007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120169	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110977	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16851005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121741	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009449	biolink:NamedThing			mondoexuq1wtf																														
DOID:10864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179194	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25374005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66160001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191830004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617667	biolink:NamedThing			mondoexuq1wtf																														
DOID:10032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5935	biolink:NamedThing			mondoexuq1wtf																														
DOID:5475	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2097	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665488	biolink:NamedThing			mondoexuq1wtf																														
DOID:5302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87758007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060495	biolink:NamedThing			mondoexuq1wtf																														
DOID:12119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201129005	biolink:NamedThing			mondoexuq1wtf																														
DOID:438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201059	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602252	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:CN197360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93665005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193812004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155980007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035335	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198882006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267736000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99068	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8384	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050436	biolink:NamedThing			mondoexuq1wtf																														
DOID:727	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616562	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18979005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539991	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262776	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254099008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849524	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78581	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91390005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607516	biolink:NamedThing			mondoexuq1wtf																														
DOID:11665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699184009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010015	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930923	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567015	biolink:NamedThing			mondoexuq1wtf																														
DOID:11086	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193936001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110881	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4230004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449866003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618546	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187453001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194098009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238080004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36193003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766719006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:401046009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276199008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55740007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199497	biolink:NamedThing			mondoexuq1wtf																														
DOID:3102	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63691004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342276	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732248005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34742003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62696001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615767	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013231	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614883	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202452	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297232009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20415001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029417	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610707	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424975	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001766	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195979001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536932	biolink:NamedThing			mondoexuq1wtf																														
DOID:3056	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265905	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567195	biolink:NamedThing			mondoexuq1wtf																														
DOID:9857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231479000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272060	biolink:NamedThing			mondoexuq1wtf																														
DOID:7927	biolink:NamedThing			mondoexuq1wtf																														
DOID:5604	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277545003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518739	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128823009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538402	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263413	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189018005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152132	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204331008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723581006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616871	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017888	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
NCIT:C120376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931684	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21924005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124204003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64043005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46606001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847711	biolink:NamedThing			mondoexuq1wtf																														
DOID:12474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032587	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275662	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615058	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6015	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429998004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277648007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723826007	biolink:NamedThing			mondoexuq1wtf																														
DOID:7639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719250005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93756008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353308	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C77201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187656000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264719	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142082	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201124000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060883	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155736002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67362008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13370002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608189	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715239002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/6300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206433007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13978000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84453	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390007001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403442005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105805	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266256009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21560005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:172422001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197128007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748969	biolink:NamedThing			mondoexuq1wtf																														
DOID:2601	biolink:NamedThing			mondoexuq1wtf																														
DOID:10131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854923	biolink:NamedThing			mondoexuq1wtf																														
DOID:10871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254702000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715673002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537283	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563549	biolink:NamedThing			mondoexuq1wtf																														
DOID:3666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480556	biolink:NamedThing			mondoexuq1wtf																														
DOID:6082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118946009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371015003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154841009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75023009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302849000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536485	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128921005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180104	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50401	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240787008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79000000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155925000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367368009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267806002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13596001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390718008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155645006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3695127	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750798	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217382	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276422	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267854005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:602001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267858008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41919003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4515	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205306000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233680000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127006003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221106	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610031	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090044	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268122002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6034002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203548	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98975	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269538009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158590	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53035	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206539008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435603	biolink:NamedThing			mondoexuq1wtf																														
DOID:14291	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060584	biolink:NamedThing			mondoexuq1wtf																														
DOID:5598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618284	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35742	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539881	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90584004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0428791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31788005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189809007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537240	biolink:NamedThing			mondoexuq1wtf																														
DOID:9351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266586003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32268008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408387006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0869474	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449074003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834079	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42596004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69614003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860972	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27542	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6154	biolink:NamedThing			mondoexuq1wtf																														
DOID:9936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81622000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050948	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27753	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204370002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613989	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010493	biolink:NamedThing			mondoexuq1wtf																														
DOID:8630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN321863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197319	biolink:NamedThing			mondoexuq1wtf																														
DOID:7210	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217399	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:59181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844016	biolink:NamedThing			mondoexuq1wtf																														
DOID:1389	biolink:NamedThing			mondoexuq1wtf																														
DOID:12837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32941003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211990	biolink:NamedThing			mondoexuq1wtf																														
DOID:7717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3245525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861237	biolink:NamedThing			mondoexuq1wtf																														
DOID:8481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126955002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280811	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607921	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111668	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848724	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127559009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192958009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050467	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3712	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006315	biolink:NamedThing	obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm		mondoexuq1wtf						Editor note: this represents a cell type in NCIT	NCIT:C37005			True		NCIT:C37005|EFO:1000392														https://github.com/monarch-initiative/mondo/issues/2099				owl:Class
NCIT:C37005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154459000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5205	biolink:NamedThing			mondoexuq1wtf																														
DOID:4990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860465	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414618002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205130008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9513	biolink:NamedThing			mondoexuq1wtf																														
DOID:9972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302401	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299239	biolink:NamedThing			mondoexuq1wtf																														
DOID:8483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203362003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720612000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725135004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866282	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842051	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C134953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40361	biolink:NamedThing			mondoexuq1wtf																														
DOID:5597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017919	biolink:NamedThing			mondoexuq1wtf																														
DOID:6212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191748001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255094009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80699009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186535001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34663	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677613	biolink:NamedThing			mondoexuq1wtf																														
DOID:8151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:306058006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242072	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190775001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280299	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72083004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255183007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60086000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445216006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718128009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4707	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155449	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613402	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017514	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554605	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39911004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750066	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236476008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95877004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700272008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009165	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205804007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48723006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200227	biolink:NamedThing			mondoexuq1wtf																														
DOID:3893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195202003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613307	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253194008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2928	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310626	biolink:NamedThing			mondoexuq1wtf																														
DOID:12377	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514907	biolink:NamedThing			mondoexuq1wtf																														
DOID:3128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936739	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721096	biolink:NamedThing			mondoexuq1wtf																														
DOID:5297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6395007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10528009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402035	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189841001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423275	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859647	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018462	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723362004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842462	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266585004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D066190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201450008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111243	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733086003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302832007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300280	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277158007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751695	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189196005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57223003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186652008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006434	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9446007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537015	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020196	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72893007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677774	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:769	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000126	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060268	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN181217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84942	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88687001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3044	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007943	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796250	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265475	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162199006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:141196007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201213005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN243982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126713003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C18058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349539	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2443	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267884002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010547	biolink:NamedThing			mondoexuq1wtf																														
DOID:6725	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7296	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000016	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468678	biolink:NamedThing			mondoexuq1wtf																														
DOID:4434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3501858	biolink:NamedThing			mondoexuq1wtf																														
DOID:11119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238872007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363458004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN117960	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877055	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189858006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721840000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0886477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30156004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162510	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4109	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53741008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278532000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203102006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190798009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5831	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111758	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206621	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25501002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463992	biolink:NamedThing			mondoexuq1wtf																														
DOID:3087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3262	biolink:NamedThing			mondoexuq1wtf																														
DOID:118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850806	biolink:NamedThing			mondoexuq1wtf																														
DOID:5391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206335001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271826	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158048	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254085009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188704004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:700112007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204063009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205555008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186946009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79324	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535943	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39341005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567423	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7981	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538048	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149907	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82119001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189878003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237967002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537360	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31681005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226916	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48611009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253029009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206620	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363489000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5503	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565292	biolink:NamedThing			mondoexuq1wtf																														
DOID:3701	biolink:NamedThing			mondoexuq1wtf																														
DOID:6294	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98356	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1735591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349620	biolink:NamedThing			mondoexuq1wtf																														
DOID:82	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766928004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110534	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009814	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011507	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84481	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3207	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763366000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931693	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111234	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839114	biolink:NamedThing			mondoexuq1wtf																														
DOID:6354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75164001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720636001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194382008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618877	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262977	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN601375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34686004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4011454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128763002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410796000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363447008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94144008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0401151	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018051	biolink:NamedThing			mondoexuq1wtf																														
DOID:2351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887461	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007972	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35078	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0522631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846129	biolink:NamedThing			mondoexuq1wtf																														
DOID:9746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227783	biolink:NamedThing			mondoexuq1wtf																														
DOID:11264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34597006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766935007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125460	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128841001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN068444	biolink:NamedThing			mondoexuq1wtf																														
DOID:2639	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226670	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93933005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204971	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216981	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98893	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3075	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677349	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154805009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721903007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300802	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5117	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715415005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45742009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:260305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722453009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268080	biolink:NamedThing			mondoexuq1wtf																														
DOID:5948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7125002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155744002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360369003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0332881	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278054005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389100007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416829003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748694	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970431	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205566001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123310005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201194007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795825	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766992008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857809	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110561	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89870006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214300	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:773	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5822	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269509006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613068	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003929	biolink:NamedThing			mondoexuq1wtf																														
DOID:5768	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722476007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613969	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69397000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32895009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201796004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334298	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732926009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189929007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614210	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111447	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102237	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198251001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494226	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000786	biolink:NamedThing	obsolete plum allergy	A allergy involving a Prunus domestica.	mondoexuq1wtf	Prunus domestica allergic disease|Prunus domestica fruit allergy|Prunus domestica caused allergic disease|allergy of Prunus domestica	MONDO:outOfScope								True		DOID:0060511														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203110007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2904007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725096002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776929	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012610	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91981009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155229002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474844	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34894	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110077	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:519406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931739	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605387	biolink:NamedThing			mondoexuq1wtf																														
DOID:778	biolink:NamedThing			mondoexuq1wtf																														
DOID:5580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79353000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204956	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7457	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537339	biolink:NamedThing			mondoexuq1wtf																														
DOID:3374	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187625008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716862002	biolink:NamedThing			mondoexuq1wtf																														
DOID:12554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887895	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564599	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279775	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194713007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090047	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85874	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111321007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616227	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154865	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538094	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931644	biolink:NamedThing			mondoexuq1wtf																														
DOID:13576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98539	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393607001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21111006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032791	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005067	biolink:NamedThing			mondoexuq1wtf																														
DOID:4636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254434008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888076	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109550008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28394000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27802	biolink:NamedThing			mondoexuq1wtf																														
DOID:2163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018824	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157456	biolink:NamedThing			mondoexuq1wtf																														
DOID:12721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766752000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42341009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0394006	biolink:NamedThing			mondoexuq1wtf																														
DOID:888	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018887	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197366003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92030004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40410004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562645	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719907006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189770002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887594	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765138001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255710	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538275	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606852	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600269	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83839005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154466004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35781	biolink:NamedThing			mondoexuq1wtf																														
DOID:14413	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269559002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274944000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193051008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30865009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003317	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188643009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN388855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269577007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267627009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020786	biolink:NamedThing	obsolete short sleep, familial natural, 2		mondoexuq1wtf	FNSS2|SHORT SLEEP, FAMILIAL NATURAL, 2									True		OMIM:618591																		owl:Class
http://identifiers.org/omim/618591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6650	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196563002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33629003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602501	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53698	biolink:NamedThing			mondoexuq1wtf																														
DOID:8140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397618	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269540004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253136007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242292	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007948	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194093000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856245	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266143009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254074007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29753000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206647	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342789	biolink:NamedThing			mondoexuq1wtf																														
DOID:2723	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19906005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537459	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82775009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1617072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33110008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189893004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006181	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041321	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76169001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154996004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715437003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1871	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196150004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601829	biolink:NamedThing			mondoexuq1wtf																														
DOID:8969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023760	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155713006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007973	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861695	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42681006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1376001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109373004	biolink:NamedThing			mondoexuq1wtf																														
DOID:14152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110461	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554649	biolink:NamedThing			mondoexuq1wtf																														
DOID:2977	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766721001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193544008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3472621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238922006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:977	biolink:NamedThing			mondoexuq1wtf																														
DOID:5958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723096000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707446	biolink:NamedThing			mondoexuq1wtf																														
DOID:2870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155866001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3949	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93863000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036765	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193973003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567562	biolink:NamedThing			mondoexuq1wtf																														
DOID:885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020502	biolink:NamedThing			mondoexuq1wtf																														
DOID:12804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014479	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26781	biolink:NamedThing			mondoexuq1wtf																														
DOID:13538	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398630005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612997	biolink:NamedThing			mondoexuq1wtf																														
DOID:12190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126995000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8448	biolink:NamedThing			mondoexuq1wtf																														
DOID:5435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151209	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702433001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426437004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763211004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536516	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001845	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564824	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188287005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931491	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020620	biolink:NamedThing	obsolete blood group, ss		mondoexuq1wtf	BLOOD GROUP, Ss|Ss Blood Group|Ss									True		OMIM:111740																		owl:Class
http://identifiers.org/omim/111740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230770008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82523003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373413006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154544009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155180006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398274000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056725	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55604004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275842	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314637	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199152008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234087005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6209	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795821	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020607	biolink:NamedThing			mondoexuq1wtf																														
DOID:2510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19754005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155049004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1534653	biolink:NamedThing			mondoexuq1wtf																														
DOID:8419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205797	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607317	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720862007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96168	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93787005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040553	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563020	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060421	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110270	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537021	biolink:NamedThing			mondoexuq1wtf																														
DOID:5143	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238127001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420120006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97287	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703821009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204712	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187143006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014122	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060606	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205582000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204431	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266542008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141115	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302195	biolink:NamedThing			mondoexuq1wtf																														
DOID:1554	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN536255	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127034005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410192	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063647	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231834005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12427005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39659002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254915003	biolink:NamedThing			mondoexuq1wtf																														
DOID:5876	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565322	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254978007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:82004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155809006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025284	biolink:NamedThing			mondoexuq1wtf																														
DOID:2089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796264	biolink:NamedThing			mondoexuq1wtf																														
DOID:9043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91138005	biolink:NamedThing			mondoexuq1wtf																														
DOID:10834	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225359	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838989	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232058008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019345	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190680002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618468	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839840	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110005000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187979002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13092008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726356000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389261002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442416002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219721	biolink:NamedThing			mondoexuq1wtf																														
DOID:987	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310654	biolink:NamedThing			mondoexuq1wtf																														
DOID:9256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6912	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83469	biolink:NamedThing			mondoexuq1wtf																														
DOID:11896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237818003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004715	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6284	biolink:NamedThing			mondoexuq1wtf																														
DOID:2776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220497	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85072	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035040	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118782	biolink:NamedThing			mondoexuq1wtf																														
DOID:929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715788001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11870	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060360	biolink:NamedThing			mondoexuq1wtf																														
DOID:9631	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123093003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718721006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195349001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3451	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765487008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417065002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716381003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3952	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718551002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11400	biolink:NamedThing			mondoexuq1wtf																														
DOID:11850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015765	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4783	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26089000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275539005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439143004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93256	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714994	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48241004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66521008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39925003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719427001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47158003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21162009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763821001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715343000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417057000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535638	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310717	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96346	biolink:NamedThing			mondoexuq1wtf																														
DOID:2456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70272006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:569164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345726	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111657	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612628	biolink:NamedThing			mondoexuq1wtf																														
DOID:3803	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84444	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290854	biolink:NamedThing			mondoexuq1wtf																														
DOID:11186	biolink:NamedThing			mondoexuq1wtf																														
DOID:4656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531619	biolink:NamedThing			mondoexuq1wtf																														
DOID:369	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16553002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127002001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100011	biolink:NamedThing			mondoexuq1wtf																														
DOID:3246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175700	biolink:NamedThing			mondoexuq1wtf																														
DOID:2595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279701	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21995002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309510	biolink:NamedThing			mondoexuq1wtf																														
DOID:10289	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600121	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248015004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014492	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91547	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178333	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28011000119104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510784	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233985008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115232000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074214	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537586	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535748	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518236	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404055006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006726	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003807	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564739	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67667007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194052008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724072002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4172	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343081	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005847	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187172007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724841000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304340	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190724004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231692	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717003001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861783	biolink:NamedThing			mondoexuq1wtf																														
DOID:683	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837315	biolink:NamedThing			mondoexuq1wtf																														
DOID:9072	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51211002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699301008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246545002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122689	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018289	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042732	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1539274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267815009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613252	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538059	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9012003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838702	biolink:NamedThing			mondoexuq1wtf																														
DOID:1637	biolink:NamedThing			mondoexuq1wtf																														
DOID:9234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51952004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343560	biolink:NamedThing			mondoexuq1wtf																														
DOID:90	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0023211	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
http://identifiers.org/omim/226990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270173	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703541007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363361004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79166	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432316	biolink:NamedThing			mondoexuq1wtf																														
DOID:4398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009197	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342895	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34566	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425671009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402468007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40090008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126873	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111626	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724147004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616681	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537404	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268058007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398189	biolink:NamedThing			mondoexuq1wtf																														
DOID:7609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192804001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007867	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719646006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110430	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402601007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3496054	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193141	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614149	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111786	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199296	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002044	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439127006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79269	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196679005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719268008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12295008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861569	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2899	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250940	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204803	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111148	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070038	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155353006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002986	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600384	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721834007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1879321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447292006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116906	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044215	biolink:NamedThing	obsolete arm folding preference		mondoexuq1wtf	ARM folding preference					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:107850																		owl:Class
UMLS:C1862535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193385004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199645	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190236006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/230450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78305006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231513008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192852006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008309	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614470	biolink:NamedThing			mondoexuq1wtf																														
DOID:2702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253023005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188243001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394517009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155826000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52008007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN187045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719985001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110924	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62918002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266173000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266467008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033038	biolink:NamedThing			mondoexuq1wtf																														
DOID:4894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610836	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221740	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050746	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60781	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567861	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:246674000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15489004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405256006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85189	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95462004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321547	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235073000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002547	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007729	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3889	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019116	biolink:NamedThing	obsolete catecholamine-producing tumor	Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).	mondoexuq1wtf						Orphanet obsoleted this	MONDO:0021072|MONDO:0015077			True		UMLS:CN205637|Orphanet:717														https://github.com/monarch-initiative/mondo/issues/2199				owl:Class
ORPHA:717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:167358001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449783002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190808009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2519	biolink:NamedThing			mondoexuq1wtf																														
DOID:6658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98922	biolink:NamedThing			mondoexuq1wtf																														
DOID:1313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192662001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537509	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:487809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703826004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334643	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1831	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553404	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274090006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012497	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408751001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707356001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043071	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155507000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608526	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193070	biolink:NamedThing			mondoexuq1wtf																														
DOID:14557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110426005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152944	biolink:NamedThing			mondoexuq1wtf																														
DOID:2493	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154825008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255084004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424952003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95323007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300652	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563533	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369913	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018215	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616631	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1829844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194402005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26664005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363989	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18714001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333114	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7383	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24907000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194493009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62602	biolink:NamedThing			mondoexuq1wtf																														
DOID:7263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154618004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413389003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7979	biolink:NamedThing			mondoexuq1wtf																														
DOID:5492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6729006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733094005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715314008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27317008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2995	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064962	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84899	biolink:NamedThing			mondoexuq1wtf																														
DOID:13999	biolink:NamedThing			mondoexuq1wtf																														
DOID:7169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719379001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89141000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867407	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195892002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2882252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3538951	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720634003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57190000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277664004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155588007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27849002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267846008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404080006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314131007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165805	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75006000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75241009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280799	biolink:NamedThing			mondoexuq1wtf																														
DOID:5437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48069004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127035006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402135006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309833	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186659004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194512000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188738007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370468	biolink:NamedThing			mondoexuq1wtf																														
DOID:2580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272394	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6268	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269651007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26857	biolink:NamedThing			mondoexuq1wtf																														
DOID:1062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194723003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221995	biolink:NamedThing			mondoexuq1wtf																														
DOID:4779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432253	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122991	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27953	biolink:NamedThing			mondoexuq1wtf																														
DOID:7848	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053215	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0002733	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:0080108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31367003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186923007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009007	biolink:NamedThing			mondoexuq1wtf																														
DOID:263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194154006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189741006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40951006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34854	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618229	biolink:NamedThing			mondoexuq1wtf																														
DOID:946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154742006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396198006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019048	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268344000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0542519	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186924001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422541001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339121	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271730003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2681413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94353	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068370	biolink:NamedThing			mondoexuq1wtf																														
DOID:5587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393639	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342467	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:368851000119102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21049007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021334	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:72	biolink:NamedThing			mondoexuq1wtf																														
DOID:13560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363475005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763630007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126250	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3541476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33225004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1757	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274143	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014869	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27893	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008881	biolink:NamedThing			mondoexuq1wtf																														
DOID:5529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202399	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448148000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300305	biolink:NamedThing			mondoexuq1wtf																														
DOID:1947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306498	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080393	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27472	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000832	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001907	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN671930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276508000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48747004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155441006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239139000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22064009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254555008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98949	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92660005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612406	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008708	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725050005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:557	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715165	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039128	biolink:NamedThing			mondoexuq1wtf																														
MESH:D042882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751675	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719430008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751254	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4047	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563668	biolink:NamedThing			mondoexuq1wtf																														
DOID:0112199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123247007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3246	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616851	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84484	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007905	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606156	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616398	biolink:NamedThing			mondoexuq1wtf																														
DOID:5125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763829004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854989	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423341008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563294	biolink:NamedThing			mondoexuq1wtf																														
DOID:4957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748785	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1707440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748910	biolink:NamedThing			mondoexuq1wtf																														
DOID:11246	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607597	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96167	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39954	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118723	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:241006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66579008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193447003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060806	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195090009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154393000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6528	biolink:NamedThing			mondoexuq1wtf																														
DOID:397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268813	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46477004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415561000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722302009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207289007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022906	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59367005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155557008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193535007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716860005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057129	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156678	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707510005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554516	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99121	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197019008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:445110	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40259	biolink:NamedThing			mondoexuq1wtf																														
DOID:9181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193037008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277568007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019204	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58762006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37042000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45909	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204018008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970253	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2109334	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565024	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188151006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279791	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567935	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274329	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563816	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536393	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342708	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4912	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050657	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601942	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930799	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205498009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4800001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409979	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128192007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004428	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616806	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:40050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35046003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392077	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013580	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055959	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080097	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88776002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56787009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192830002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26784	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189102001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98045	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253997002	biolink:NamedThing			mondoexuq1wtf																														
DOID:13042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274152003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187779006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399422005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275498002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50711007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719812008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1619700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302847003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200883000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357043	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009091	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205548006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266455006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262128	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37746008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197288001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041782	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851888	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3383	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617061	biolink:NamedThing			mondoexuq1wtf																														
DOID:5592	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37796009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013514	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019385	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1319315	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009100	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536476	biolink:NamedThing			mondoexuq1wtf																														
DOID:1760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359837005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154500	biolink:NamedThing			mondoexuq1wtf																														
DOID:2145	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0862878	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6754	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189772005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605013	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6447	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110942	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190039005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39755000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85053	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168771	biolink:NamedThing			mondoexuq1wtf																														
DOID:959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151404	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796016	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007021	biolink:NamedThing			mondoexuq1wtf																														
DOID:13166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518342	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217560	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189179009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186903006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860820	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931812	biolink:NamedThing			mondoexuq1wtf																														
DOID:856	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27270004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:529977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51254007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8108	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271944004	biolink:NamedThing			mondoexuq1wtf																														
DOID:10914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3640983	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333508	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186402009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367112009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607948	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931139	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193181003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15682004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124844	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867394	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080614	biolink:NamedThing			mondoexuq1wtf																														
DOID:1307	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849821	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614464	biolink:NamedThing			mondoexuq1wtf																														
DOID:5568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341790	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370658	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602771	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163531	biolink:NamedThing			mondoexuq1wtf																														
DOID:5636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70971005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192013000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42930003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27025001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839258	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006045	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090090	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38403006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342735	biolink:NamedThing			mondoexuq1wtf																														
DOID:4556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126926005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11528001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277522009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494158	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75822003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236506009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21794005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31822004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203655	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220756	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230693009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300986	biolink:NamedThing			mondoexuq1wtf																														
DOID:9521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835817	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009748	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033581	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839615	biolink:NamedThing			mondoexuq1wtf																														
DOID:3185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:354002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64593003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88469006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93268	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20828000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188231002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155425005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48543002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54627004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609946	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266661001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3544214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188300006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227606	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324416	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84193000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192976002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1884006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809468	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732264002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25858008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154601003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75376	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5546	biolink:NamedThing			mondoexuq1wtf																														
DOID:3351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898144	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567498	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3323003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193813009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187478002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719017003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850302	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537403	biolink:NamedThing			mondoexuq1wtf																														
DOID:2106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188749001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126707007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277352	biolink:NamedThing			mondoexuq1wtf																														
DOID:8445	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:705155008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404140004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015773	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90738007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414341000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719453009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4551987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51608009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191190000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852296	biolink:NamedThing			mondoexuq1wtf																														
DOID:12642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865639	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34575	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203134	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37340000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155401002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242459	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006327	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68195006	biolink:NamedThing			mondoexuq1wtf																														
DOID:12712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221117	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196742001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122716	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112684005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48553001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:395505000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719404009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352577	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65443008	biolink:NamedThing			mondoexuq1wtf																														
DOID:10606	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228293	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192488005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0701818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73097000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444699000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77489003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673759	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88629	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53277000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155377000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237960000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN234684	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887964	biolink:NamedThing			mondoexuq1wtf																														
DOID:13651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155157003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124275001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34784	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716189005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254796009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254601002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66345008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/134000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566126	biolink:NamedThing			mondoexuq1wtf																														
DOID:2389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722762005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3899675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254947008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63650001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58554001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64855000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22830006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6845000	biolink:NamedThing			mondoexuq1wtf																														
DOID:13662	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90117007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748895	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188221009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195188006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614898	biolink:NamedThing			mondoexuq1wtf																														
DOID:6762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279941	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/547314	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564201	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57218003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38763009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193223007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233906007	biolink:NamedThing			mondoexuq1wtf																														
DOID:14292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D034801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618233	biolink:NamedThing			mondoexuq1wtf																														
DOID:2518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080060	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236639	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4762	biolink:NamedThing			mondoexuq1wtf																														
DOID:4690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238883003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3898105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:712922002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189959002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204380003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22949006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716651004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/149730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865695	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345964	biolink:NamedThing			mondoexuq1wtf																														
DOID:4463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2166	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562801	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230293003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201106002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699306003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612286	biolink:NamedThing			mondoexuq1wtf																														
DOID:14264	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27153	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3532354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751083	biolink:NamedThing			mondoexuq1wtf																														
DOID:6285	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044235	biolink:NamedThing	obsolete hsr		mondoexuq1wtf	hand skill, relative|handedness|HSR					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:139900																		owl:Class
UMLS:C0023114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206962	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88220006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400014002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2969	biolink:NamedThing			mondoexuq1wtf																														
DOID:14276	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265865	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99701	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/508876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93390002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186820006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537344	biolink:NamedThing			mondoexuq1wtf																														
DOID:7665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70153002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715725001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9418005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2959367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267751009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4076165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133600	biolink:NamedThing			mondoexuq1wtf																														
DOID:5324	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27908	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888339	biolink:NamedThing			mondoexuq1wtf																														
DOID:8340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307610008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877858	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020626	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C65203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752210	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:100233350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34896	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721223002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002896	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156922005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4707	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085160	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165711	biolink:NamedThing			mondoexuq1wtf																														
DOID:5974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719800009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133180	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155886002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600991	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225262	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608931	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254713002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237280005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553944	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203639008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68633000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204097	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014120	biolink:NamedThing			mondoexuq1wtf																														
DOID:2731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35226	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79740000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0848548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0574080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233818002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128623006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295167	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39926	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566914	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41309000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35984006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015702	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278883	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2017	biolink:NamedThing			mondoexuq1wtf																														
DOID:5280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71291	biolink:NamedThing			mondoexuq1wtf																														
DOID:8466	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716701004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109991003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4973001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4318747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070235	biolink:NamedThing			mondoexuq1wtf																														
DOID:9834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201445002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336529	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225233	biolink:NamedThing			mondoexuq1wtf																														
DOID:12785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448428002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77097004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765748009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858280	biolink:NamedThing			mondoexuq1wtf																														
DOID:5859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102724	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:28378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612448	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006547	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036786	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564292	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200530	biolink:NamedThing			mondoexuq1wtf																														
DOID:7514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64375000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041954	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615030	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7295	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57406009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010123	biolink:NamedThing			mondoexuq1wtf																														
DOID:3312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750537	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862259	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196569003	biolink:NamedThing			mondoexuq1wtf																														
DOID:60000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276706	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110860	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776920	biolink:NamedThing			mondoexuq1wtf																														
DOID:9108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396234004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618557	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703531009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604451	biolink:NamedThing			mondoexuq1wtf																														
DOID:9195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537438	biolink:NamedThing			mondoexuq1wtf																														
DOID:12010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231528008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190544007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C137959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719394002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749008	biolink:NamedThing			mondoexuq1wtf																														
DOID:4113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0558356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186430009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN474476	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424046	biolink:NamedThing			mondoexuq1wtf																														
DOID:299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846758	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192637001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268748000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94600009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189825002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231854006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845028	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008467	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:504523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9273005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537065	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003103	biolink:NamedThing			mondoexuq1wtf																														
DOID:8227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404052009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512742	biolink:NamedThing			mondoexuq1wtf																														
DOID:1485	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115239009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190442008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536339	biolink:NamedThing			mondoexuq1wtf																														
DOID:2640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398197009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835614	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26373009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:580940	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060234	biolink:NamedThing			mondoexuq1wtf																														
DOID:3376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1387721	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4746992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8360001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536997	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254865006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026686	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090030	biolink:NamedThing			mondoexuq1wtf																														
DOID:14452	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7426009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726607007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5335002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126634001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267805003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070144	biolink:NamedThing			mondoexuq1wtf																														
DOID:10328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717836	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22567005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070225	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155879005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538120	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004476	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309347	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190016004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202084	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254771006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846735	biolink:NamedThing			mondoexuq1wtf																														
DOID:2438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2438005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319524	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51180003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306955	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/400042	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422470007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110864	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019955	biolink:NamedThing			mondoexuq1wtf																														
DOID:6587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240074006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16018000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31848007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614809	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186799006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128716004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720600004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192470002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C77212	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036024	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719658006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1129	biolink:NamedThing			mondoexuq1wtf																														
DOID:11123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359770008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4414005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612714	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308459	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002054	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111730	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855646	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312491004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057973	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34654	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0233880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192885003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719990003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10394003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:513	biolink:NamedThing			mondoexuq1wtf																														
DOID:3381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0596046	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202358	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156510	biolink:NamedThing			mondoexuq1wtf																														
DOID:8556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3161104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312927001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1590	biolink:NamedThing			mondoexuq1wtf																														
DOID:11223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120040	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37428001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7393007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616277	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109477002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448542008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266571009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17901006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970808	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566431	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178551	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020691	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:49442000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019595	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199486008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46107006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187849008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367543008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45676007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002181	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3047	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93715005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182212	biolink:NamedThing			mondoexuq1wtf																														
DOID:2088	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235595009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84619001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87414006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14697007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154983000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235875008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721313009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722281001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268089006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865882	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:874	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535393	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN235187	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254622008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017515	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35151	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4313	biolink:NamedThing			mondoexuq1wtf																														
DOID:0112200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67254002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:130197005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70786006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948954	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237961001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111734	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343377	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852062	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202837002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611291	biolink:NamedThing			mondoexuq1wtf																														
DOID:10863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764990003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26710	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230275004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191326009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171208	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012141	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204136005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246400	biolink:NamedThing			mondoexuq1wtf																														
DOID:10122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186783000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363446004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156508002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853490	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111718	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154737003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851537	biolink:NamedThing			mondoexuq1wtf																														
DOID:2855	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733083006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266588002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4047	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205883	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194031000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851399	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3478	biolink:NamedThing			mondoexuq1wtf																														
DOID:5743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008998	biolink:NamedThing			mondoexuq1wtf																														
DOID:11387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232057003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212350	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN037259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186525007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85169	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267849001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349529	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27912	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187512007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618820	biolink:NamedThing			mondoexuq1wtf																														
DOID:980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276267006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8934006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613611	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021216	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:99886	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228927	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399219006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2945558	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9245008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269650008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153998	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46727001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0733682	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723359002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079298	biolink:NamedThing			mondoexuq1wtf																														
DOID:8083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193638002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123948009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018267	biolink:NamedThing			mondoexuq1wtf																														
DOID:13403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267973008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614871	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745261	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721082002	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0003161	biolink:NamedThing	obsolete benign ependymoma		mondoexuq1wtf				MONDO:0016698						True																				owl:Class
DOID:3691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26932	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197218008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025521	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5524	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537784	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564202	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536729	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54102	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565185	biolink:NamedThing			mondoexuq1wtf																														
DOID:3883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708026002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68640004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13151001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025297	biolink:NamedThing			mondoexuq1wtf																														
DOID:12252	biolink:NamedThing			mondoexuq1wtf																														
DOID:445	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5432	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14608006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120197	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186405006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189572008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204086	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050863	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618432	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64366002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019357	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535947	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154768004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085389	biolink:NamedThing			mondoexuq1wtf																														
DOID:5373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750440	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697904001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12403	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060077	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617854	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011875	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565291	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359668007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371076006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25065001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393562002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268643000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153493	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564985	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180253	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002759	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009011	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017042	biolink:NamedThing			mondoexuq1wtf																														
DOID:917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614609	biolink:NamedThing			mondoexuq1wtf																														
DOID:9228	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537780	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566473	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111111	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154981003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155317009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268622	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4566	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833736	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155073007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187597000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398250003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78956007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79364	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016889	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31154	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847399	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363431006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18377001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123752003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707749005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300920004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126908007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718226002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:839	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181393	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443291	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:450906003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189017000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887982	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060092	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564637	biolink:NamedThing			mondoexuq1wtf																														
DOID:14087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191963005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519321	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2712907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:290849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40111	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537321	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225050	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008265	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197648001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018915	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751088	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201079006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024299	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035645	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225174	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192700000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566493	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713306000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403810	biolink:NamedThing			mondoexuq1wtf																														
DOID:9274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186606001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137839	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69947005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197216007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1940	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363549	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607941	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725419003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618725	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275844	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031280	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059905	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154820003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334358	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403923002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201734004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861453	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5867007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717360009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399165002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122789	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95646004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186961005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190320	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194961006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302319	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536691	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017099	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566970	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862169	biolink:NamedThing			mondoexuq1wtf																														
DOID:4283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56975005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267730006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269642004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128108002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154320008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187497002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34855	biolink:NamedThing			mondoexuq1wtf																														
DOID:3817	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268241	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051585	biolink:NamedThing			mondoexuq1wtf																														
DOID:898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750076	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66999008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63264007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93162007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/143500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615663	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139552	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24321005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194260003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864791	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21381006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1488	biolink:NamedThing			mondoexuq1wtf																														
DOID:10971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23606001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764522009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1644196	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7637	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156956004	biolink:NamedThing			mondoexuq1wtf																														
DOID:963	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537444	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:520820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202645009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154691	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131683	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68409003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268322	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24045002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021750	biolink:NamedThing			mondoexuq1wtf																														
DOID:5805	biolink:NamedThing			mondoexuq1wtf																														
DOID:13790	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204283	biolink:NamedThing			mondoexuq1wtf																														
DOID:8408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:183927002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155563	biolink:NamedThing			mondoexuq1wtf																														
DOID:7664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:103690005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537036	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227335	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38959009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98992	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156368000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5476005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197366	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240200	biolink:NamedThing			mondoexuq1wtf																														
DOID:5271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711265009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277574007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:572385	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536558	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193698004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47100003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7386	biolink:NamedThing			mondoexuq1wtf																														
DOID:8499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4210003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3354	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334565	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197456007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722067005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201088002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310473	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111052	biolink:NamedThing			mondoexuq1wtf																														
DOID:850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86492004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46041001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15557005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2246	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189167009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64280	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45023003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238394	biolink:NamedThing			mondoexuq1wtf																														
DOID:6629	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55464009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189507001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748408	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33662006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85866007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751427	biolink:NamedThing			mondoexuq1wtf																														
MESH:C542540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98722	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253781004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397685	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867450	biolink:NamedThing			mondoexuq1wtf																														
DOID:217	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2067	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189513005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218450	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48430004	biolink:NamedThing			mondoexuq1wtf																														
DOID:120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718848000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86923008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715794009	biolink:NamedThing			mondoexuq1wtf																														
DOID:641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196649003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2199	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020938	biolink:NamedThing			mondoexuq1wtf																														
DOID:2815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6111009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3817	biolink:NamedThing			mondoexuq1wtf																														
DOID:8304	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060195	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838163	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111466	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190231001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1802	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563676	biolink:NamedThing			mondoexuq1wtf																														
DOID:5775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194773000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189334002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN231446	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009426	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008587	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060010	biolink:NamedThing			mondoexuq1wtf																														
DOID:817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187816004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162849	biolink:NamedThing			mondoexuq1wtf																														
DOID:12800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123317	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104077	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204107005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2184082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855552	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195774000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266620001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238731001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269528004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110020	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191231008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34997001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266178	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060786	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080023	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410016009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399432003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36989005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111569	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72900001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193117	biolink:NamedThing			mondoexuq1wtf																														
DOID:1206	biolink:NamedThing			mondoexuq1wtf																														
DOID:3644	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610246	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050920	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763669001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101011	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12332	biolink:NamedThing			mondoexuq1wtf																														
DOID:14069	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201401002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64779008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721765009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269492005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854663	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536654	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510276	biolink:NamedThing			mondoexuq1wtf																														
DOID:6639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154679002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702413000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190953007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776915	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92560002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110894	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155914009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242644	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255033000	biolink:NamedThing			mondoexuq1wtf																														
DOID:990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36689008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:165258002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059019	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188274004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3532881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843225	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567520	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:32	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84813	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020513	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN847585	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850281	biolink:NamedThing			mondoexuq1wtf																														
DOID:4055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154859	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310652	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197771007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554654	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060043	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23247008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34468	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194111001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93846004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795859	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:174590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002963	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195351002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329672	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49042	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56717001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196872004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334478	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64250002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195312007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537564	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060603	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98645	biolink:NamedThing			mondoexuq1wtf																														
DOID:14723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73146005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016142	biolink:NamedThing			mondoexuq1wtf																														
DOID:2641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269554007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608720	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015466	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252183	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795865	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98971	biolink:NamedThing			mondoexuq1wtf																														
DOID:13822	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345160	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269460009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83728000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86095007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190430003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4241002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614164	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110585	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4105	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329475	biolink:NamedThing			mondoexuq1wtf																														
DOID:3946	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050888	biolink:NamedThing			mondoexuq1wtf																														
DOID:5595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042266	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141096	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263487	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139030	biolink:NamedThing			mondoexuq1wtf																														
DOID:13089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7103	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610157	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C134831	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090057	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1285174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0519037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210745	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535797	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373643003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47671001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189861007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51603000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155163007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616182	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567241	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020038	biolink:NamedThing	obsolete gonadal dysgenesis of gynecological interest		mondoexuq1wtf						These terms are not used clinically.	MONDO:0002145|MONDO:0001967			True		Orphanet:98074																		owl:Class
ORPHA:98074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27052006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607636	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020937	biolink:NamedThing			mondoexuq1wtf																														
DOID:8409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202454002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5736	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40239	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000751	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060491	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601277	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190822009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749128	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618495	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024228	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109605000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8574	biolink:NamedThing			mondoexuq1wtf																														
DOID:14764	biolink:NamedThing			mondoexuq1wtf																														
DOID:12522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609378	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33760009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017494	biolink:NamedThing	obsolete congenital absence of upper arm and forearm with hand present, unilateral		mondoexuq1wtf	humero-radio-ulnar intercalary transverse meromelia, unilateral					Obsolete in Orphanet	MONDO:0017441			True		Orphanet:295085|ICD10:Q71.1																		owl:Class
ORPHA:295085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191253005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2972007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3377	biolink:NamedThing			mondoexuq1wtf																														
DOID:5639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154834	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129581007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278504009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4318	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57141000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1796006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35042001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:542657	biolink:NamedThing			mondoexuq1wtf																														
DOID:3881	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367621000119107	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0054741	biolink:NamedThing			mondoexuq1wtf																														
DOID:5225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40024006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12301009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49699002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399326009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200519	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193148004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31654005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3532429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155954	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3240	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050848	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155346002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518082	biolink:NamedThing			mondoexuq1wtf																														
DOID:1799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373653002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83469008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206953	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7566	biolink:NamedThing			mondoexuq1wtf																														
DOID:7177	biolink:NamedThing			mondoexuq1wtf																														
DOID:5728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609016	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155829007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155374007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110793	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868090	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010157	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834232	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116380	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98926	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74783009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:170733007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016112	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C162611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845292	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722296002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195220007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/238340	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849453	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270492004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36517007	biolink:NamedThing			mondoexuq1wtf																														
DOID:2658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189799007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1567426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842898	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610582	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060288	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013206	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34988	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201661008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194312004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129458007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187693006	biolink:NamedThing			mondoexuq1wtf																														
DOID:979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156723005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702380008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5257006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN187050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128382	biolink:NamedThing			mondoexuq1wtf																														
DOID:2929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748516	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225263	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752081	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003449	biolink:NamedThing			mondoexuq1wtf																														
DOID:5825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196759006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38371006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19466003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36444000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1695985	biolink:NamedThing			mondoexuq1wtf																														
DOID:14351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154330004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190067001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93848003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273860	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019911	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98826	biolink:NamedThing			mondoexuq1wtf																														
DOID:14332	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56677004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015141	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155759008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613545	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128767001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188890	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32844007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334758	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84612	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34801	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306474	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015175	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614462	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201259007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253402005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796207	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90186	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021226	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
ORPHA:526	biolink:NamedThing			mondoexuq1wtf																														
DOID:12716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39925	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567925	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020624	biolink:NamedThing	obsolete blood group--waldner type		mondoexuq1wtf	BLOOD GROUP--WALDNER TYPE|WD|Waldner Blood Group Antigen									True		OMIM:112010																		owl:Class
UMLS:C1862191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751535	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166032	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306	biolink:NamedThing			mondoexuq1wtf																														
DOID:3773	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186234003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266354009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189815007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266622009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004830	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196343008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725464001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238448	biolink:NamedThing			mondoexuq1wtf																														
DOID:14252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617282	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719301002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150732	biolink:NamedThing			mondoexuq1wtf																														
DOID:5268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128925001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100800	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154321007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206369	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191168000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:141199000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237547004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154298007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188675007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090089	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7737	biolink:NamedThing			mondoexuq1wtf																														
DOID:2781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397810006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228905	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615578	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275460	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857512	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931404	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564520	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003486	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29028009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518505	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52186006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718556007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333789	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080391	biolink:NamedThing			mondoexuq1wtf																														
DOID:8670	biolink:NamedThing			mondoexuq1wtf																														
DOID:2964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31401003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7611002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192847001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837148	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734015000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194198006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399877	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272153	biolink:NamedThing			mondoexuq1wtf																														
DOID:6113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39860	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64144002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79037006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90783	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45360	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1271219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58850003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367507002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270163	biolink:NamedThing			mondoexuq1wtf																														
DOID:14546	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808184	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134218000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312840	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766937004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126947009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29928006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936779	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080345	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64109004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276533002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240523007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33995003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267836006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472767	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198586000	biolink:NamedThing			mondoexuq1wtf																														
DOID:713	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98597	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001196	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676507	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227976	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205701007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866183	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73692007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198142001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52869003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494457	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:47	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025534	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717225001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474964	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120191	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134324009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197808006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53417006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717761005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236651	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6099	biolink:NamedThing			mondoexuq1wtf																														
DOID:268	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24817009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715795005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535633	biolink:NamedThing			mondoexuq1wtf																														
DOID:4226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8753005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70241007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:821398018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719020006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603563	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3818	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293987	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79303	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186839001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274986	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:922	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448401007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724179008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709282004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277161008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363508008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1627365	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004383	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217026	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033683	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130900	biolink:NamedThing			mondoexuq1wtf																														
DOID:6128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276399	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719021005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86075001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395865	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070163	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702425002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156816000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254896002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608355	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C100093	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35111009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207416	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057645	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064032	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931052	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566515	biolink:NamedThing			mondoexuq1wtf																														
DOID:2745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718221007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99824	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192415000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154411000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150753	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75118	biolink:NamedThing			mondoexuq1wtf																														
DOID:6678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014531	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92319008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537362	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7507	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210571	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60600009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204299009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80360005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763458005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403803002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267680008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77956009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612539	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4478716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31470003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98569	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194338004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230532006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257850	biolink:NamedThing			mondoexuq1wtf																														
DOID:8761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809645	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035653	biolink:NamedThing			mondoexuq1wtf																														
DOID:173	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156358005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212974006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58558003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193922006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721013001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38807002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167755	biolink:NamedThing			mondoexuq1wtf																														
DOID:3650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157669006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031880	biolink:NamedThing			mondoexuq1wtf																														
DOID:8368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53633000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306503	biolink:NamedThing			mondoexuq1wtf																														
DOID:13711	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38023001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24526004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:406446000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155632007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304737009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186651001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513718	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2177002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196529004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14363008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158983	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123053001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203398006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711161006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44917000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49465005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025202	biolink:NamedThing			mondoexuq1wtf																														
DOID:6214	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98603	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99749	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180145	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94082003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722968003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614482	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44600005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618697	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26638004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34349009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359725000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615107	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864549	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608787	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186803007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193387007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:328661000119108	biolink:NamedThing			mondoexuq1wtf																														
DOID:9378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304300	biolink:NamedThing			mondoexuq1wtf																														
DOID:483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C70647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202589	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521411	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613144	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154424000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:305047005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613908	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1269683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510368	biolink:NamedThing			mondoexuq1wtf																														
DOID:12987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8603	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372142002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612563	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733491005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178554	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:213021008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91637004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93468003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111685	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343079	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129978	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029235	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404088004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70931000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27174	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73495003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27444	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531698	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210740	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238525001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072106	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188032002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30213001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325537	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110253	biolink:NamedThing			mondoexuq1wtf																														
DOID:3454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267748002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863052	biolink:NamedThing			mondoexuq1wtf																														
DOID:8536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN220387	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40141	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064886	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178996	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191852008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156686008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749126	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:265	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo/sparql/qc/mondo/qc-omim-subsumption.sparql	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722206009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399964004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551133	biolink:NamedThing			mondoexuq1wtf																														
MESH:C579867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86268005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260899	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204947004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99083	biolink:NamedThing			mondoexuq1wtf																														
DOID:26	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349671	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013576	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191151004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699307007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156408004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4316789	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722437006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2466	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:581	biolink:NamedThing			mondoexuq1wtf																														
DOID:1025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300428	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110682	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269469005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41021005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3698095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206528	biolink:NamedThing			mondoexuq1wtf																														
DOID:4885	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110544	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53618008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79320	biolink:NamedThing			mondoexuq1wtf																														
DOID:754	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156924006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001816	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:928000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537401	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854488	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510897	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36785009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917981	biolink:NamedThing			mondoexuq1wtf																														
DOID:4153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150802	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605779	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610542	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1739111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343714	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158651	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244573	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193919009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209500	biolink:NamedThing			mondoexuq1wtf																														
DOID:2733	biolink:NamedThing			mondoexuq1wtf																														
DOID:10485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155644005	biolink:NamedThing			mondoexuq1wtf																														
DOID:12169	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607091	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1706829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931676	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836876	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600559	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189823009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6887	biolink:NamedThing			mondoexuq1wtf																														
DOID:11432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333762	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1239	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84299009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601098	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843273	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535653	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169802	biolink:NamedThing			mondoexuq1wtf																														
DOID:1278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157762007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254901000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32659003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155403004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35073	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1318551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194757006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1443001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40930008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276786	biolink:NamedThing			mondoexuq1wtf																														
DOID:5272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413728006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52476003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567728	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857334	biolink:NamedThing			mondoexuq1wtf																														
DOID:2366	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3333	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C162775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312941005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39795003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015195	biolink:NamedThing			mondoexuq1wtf																														
DOID:12311	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C153289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264443002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931216	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191125001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699659007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400009001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37832003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191131003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185610	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217330	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536916	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4090	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197660000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN902090	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278046008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92468007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3711389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/239840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189652009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:243682006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711286009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150928	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345805	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31658008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614101	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10743008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404160007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240066005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017484	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155915005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511319	biolink:NamedThing			mondoexuq1wtf																														
DOID:2211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187889002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267031	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193913005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3951002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404033003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235110008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91412	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3163	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010322	biolink:NamedThing			mondoexuq1wtf																														
DOID:3379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92413008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237598005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271905	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21946002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152244	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4772	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:106014008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133020	biolink:NamedThing			mondoexuq1wtf																														
DOID:5976	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98690	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28381002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535766	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060764	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050847	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126885006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49793008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158449	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2783	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537222	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83883001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN737162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3540844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703535000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302332	biolink:NamedThing			mondoexuq1wtf																														
DOID:13035	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721207002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715470008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82275008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74364000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276806006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7411	biolink:NamedThing			mondoexuq1wtf																														
DOID:116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402878003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50581000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449790007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853577	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190750000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198007002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80193009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020864	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566514	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855926	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442551007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0015172	biolink:NamedThing	obsolete epithelio-exfoliative colitis-deafness syndrome	This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness.	mondoexuq1wtf						Obsolete in Orphanet				True		ICD10:P78.3|UMLS:CN226615|Orphanet:103912																		owl:Class
ORPHA:103912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441574008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717286002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187482000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192655005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126730001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430395005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4831	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138770	biolink:NamedThing			mondoexuq1wtf																														
DOID:5368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3839000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235853006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279842	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404057003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247623	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563161	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000774	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613320	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43064006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254693	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721713007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149711	biolink:NamedThing			mondoexuq1wtf																														
DOID:4547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156662006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064242	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003236	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000381	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195643006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110468	biolink:NamedThing			mondoexuq1wtf																														
DOID:12984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77692006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1961102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864994	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111481	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254509	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342639	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7035	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364198	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536138	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:299465007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111217	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279084	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79886009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93031005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0812437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719584008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191138009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84555	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010915	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286956007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002481	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190844004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275269004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721902002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866504	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111219	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236678	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110254	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21634003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042138	biolink:NamedThing			mondoexuq1wtf																														
DOID:2344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200181	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155219009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764455002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:139684003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562385	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2891	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267861009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201610	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0006885	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C0008582	biolink:NamedThing			mondoexuq1wtf																														
DOID:3029	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717941005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4661	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200929	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334323	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237038001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550913	biolink:NamedThing			mondoexuq1wtf																														
DOID:13757	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537511	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193844000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38431002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230193008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194130001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363356001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27729002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410052008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603642	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161950	biolink:NamedThing			mondoexuq1wtf																														
DOID:5351	biolink:NamedThing			mondoexuq1wtf																														
DOID:9153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267874003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14901003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276975007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200992	biolink:NamedThing			mondoexuq1wtf																														
DOID:3616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154767009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204323003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551716	biolink:NamedThing			mondoexuq1wtf																														
DOID:1187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92175003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5287	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202324	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79377	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537058	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614926	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28244	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52368	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111629	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537162	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/205100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536031	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604218	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201159	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253030004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92486005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41040004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609363	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46744002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40212	biolink:NamedThing			mondoexuq1wtf																														
DOID:10124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398680004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164279	biolink:NamedThing			mondoexuq1wtf																														
DOID:11234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150796	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254794007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17406005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1997217	biolink:NamedThing			mondoexuq1wtf																														
DOID:7678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036946	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125586008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:C0023462	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931780	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4311047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3344003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50508009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154409	biolink:NamedThing			mondoexuq1wtf																														
DOID:9589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839123	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98613	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:478	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563219	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537893	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29504002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763204003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854178	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022326	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:81990004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33559001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843478	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187295007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266624005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154837005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79509009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713060000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273970	biolink:NamedThing			mondoexuq1wtf																														
DOID:10257	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236627	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051066	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014391	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45382000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189674003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155880	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269507008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155178	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254091006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40157	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0744273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179280	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119181000119104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128799007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58961005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69278003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399144008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398124	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281084	biolink:NamedThing			mondoexuq1wtf																														
DOID:12965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205712	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129565002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247576004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386798001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616754	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017495	biolink:NamedThing	obsolete congenital absence of upper arm and forearm with hand present, bilateral		mondoexuq1wtf	humero-radio-ulnar intercalary transverse meromelia, bilateral					Obsolete in Orphanet	MONDO:0017441			True		ICD10:Q71.1|Orphanet:295087|ICD10:Q71.13																		owl:Class
ORPHA:295087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155624004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611638	biolink:NamedThing			mondoexuq1wtf																														
DOID:566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3890167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154491004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721311006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277637000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C88145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14852000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46348	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719397009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617602	biolink:NamedThing			mondoexuq1wtf																														
DOID:12365	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C171299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0694899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22504001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192384008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271385002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15241006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105121000119102	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531629	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186887006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612350	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3732	biolink:NamedThing			mondoexuq1wtf																														
DOID:7643	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000348	biolink:NamedThing	obsolete posterior polar cataract		mondoexuq1wtf	cataract, posterior polar|obsolete posterior polar cataract (disease)		obsolete posterior polar cataract (disease)	HP:0001115						True		DOID:0050537																		owl:Class
DOID:0050537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021071	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110139	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015209	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266293003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:142928004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C581942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956147	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618998	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764962002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702358005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:856006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45564002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037859	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2889	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726724005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432272	biolink:NamedThing			mondoexuq1wtf																														
DOID:2224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536511	biolink:NamedThing			mondoexuq1wtf																														
DOID:5509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64910008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153632	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404632009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566296	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562731	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155075000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612225	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857228	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111056	biolink:NamedThing			mondoexuq1wtf																														
DOID:11516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0405469	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39452003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090063	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564370	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85589009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363477002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54099005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17155009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372244006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205814003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446939001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722463001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72605008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7231009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238613	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21112004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404133000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006281	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:366	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:290839	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201496	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C164224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720816004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37279009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023895	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17920008	biolink:NamedThing			mondoexuq1wtf																														
DOID:8093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206429000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697993003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837615	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0024996	biolink:NamedThing	obsolete Usher syndrome, type 2b		mondoexuq1wtf	US2B|USH2B			MONDO:0011558						True		GARD:0005441																		owl:Class
ORPHA:820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254886006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3544264	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2829263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:162	biolink:NamedThing			mondoexuq1wtf																														
DOID:8307	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854488	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187674009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71912000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26132002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187791002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389998005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862112	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002881	biolink:NamedThing			mondoexuq1wtf																														
DOID:2934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36976004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281046	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34736	biolink:NamedThing			mondoexuq1wtf																														
DOID:2661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238051008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51523009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0426970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C157782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602611	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864028	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020936	biolink:NamedThing			mondoexuq1wtf																														
DOID:5414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13043002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11563	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122427	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038522	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051358	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145300	biolink:NamedThing			mondoexuq1wtf																														
DOID:10350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152902	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715727009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613406	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050454	biolink:NamedThing			mondoexuq1wtf																														
DOID:7360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92151003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019068	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070044	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267863007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94066	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237823003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21009004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99922	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90037	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776861	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92097004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280120	biolink:NamedThing			mondoexuq1wtf																														
DOID:7031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4722273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617593	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230577008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92439006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198247003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118601006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715653007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237928008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277921008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24363009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6762	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7125	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226709	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000880	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037731	biolink:NamedThing			mondoexuq1wtf																														
DOID:7312	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194006001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080397	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210589	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536555	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/224050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279611	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703226008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930899	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048930	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269194	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2457	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:445197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14336007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1790	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300434	biolink:NamedThing			mondoexuq1wtf																														
DOID:4247	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1443976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613623	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060185	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204413006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2633	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276805005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171719	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346601	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1657	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613779	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2239290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13795004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53854005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11934000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30664006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254666005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848598	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192603009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48245008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193949006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563761	biolink:NamedThing			mondoexuq1wtf																														
DOID:12581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237602007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535512	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548078	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59455009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2043009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535924	biolink:NamedThing			mondoexuq1wtf																														
DOID:9820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254980001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807826	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617125	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011615	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110167	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300921000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23732000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231070	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266311004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154989001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86708008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722688002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76851008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006868	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112831	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134158007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720603002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763272003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280930	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060134	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254069004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154905005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186273003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613575	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52097008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277587001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12933008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34388	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31070006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:553009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713886006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127003006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240370009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201798003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179239	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060102	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734030009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457013	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195401008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3665551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36235	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539937	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21631000119105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194004003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64228003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:315345002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607151	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1884	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:261480007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85195	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109441000119102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328479	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715240000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70650003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618695	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497623	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125701	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565928	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3265932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158565005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205492005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255006004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197566002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832436	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42386007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193783008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175450	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50764	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011128	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34741	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267374005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411777	biolink:NamedThing			mondoexuq1wtf																														
DOID:13677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724540009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110611	biolink:NamedThing			mondoexuq1wtf																														
DOID:14116	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152198	biolink:NamedThing			mondoexuq1wtf																														
DOID:1076	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225169	biolink:NamedThing			mondoexuq1wtf																														
DOID:7427	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610329	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080111	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399340005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610628	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698290008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2917	biolink:NamedThing			mondoexuq1wtf																														
DOID:5112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21258007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5095008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768667002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000069544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716704007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719471002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40769007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110351	biolink:NamedThing			mondoexuq1wtf																														
DOID:801	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99927	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567862	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66783006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864689	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047728	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080188	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180080	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10597006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675747	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3199	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158310	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931284	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563774	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12400006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3357	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367108003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2012072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194724009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986622	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613608	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48631008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205129	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157716	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118420	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796203	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960561	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537505	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91576008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126905005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609037	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018234	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9333	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230228004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1573	biolink:NamedThing			mondoexuq1wtf																														
DOID:8275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7163005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198130006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011625	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194139000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:285344007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567405	biolink:NamedThing			mondoexuq1wtf																														
DOID:2462	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044226	biolink:NamedThing	obsolete defective interfering particle induction, control of		mondoexuq1wtf	vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|defective interfering particle induction, control OF|Dipi, control of					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:12678																		owl:Class
UMLS:C1852265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28466007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50749	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191659001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235760009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155373001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4255088	biolink:NamedThing			mondoexuq1wtf																														
DOID:11504	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6124009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156414006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:418945	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009188	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399979006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154580009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186797008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617664	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333298	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536975	biolink:NamedThing			mondoexuq1wtf																														
DOID:8082	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765488003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675857	biolink:NamedThing			mondoexuq1wtf																														
MESH:D040181	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67046	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0025517	biolink:NamedThing	obsolete shrimp allergy	A allergic disease involving a shrimp food product.	mondoexuq1wtf	allergy of shrimp food product|shrimp food product allergic disease	MONDO:outOfScope								True		DOID:0040001														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0040001	biolink:NamedThing			mondoexuq1wtf																														
DOID:121	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1861	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101071	biolink:NamedThing			mondoexuq1wtf																														
DOID:11975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:366963000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537468	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:737223000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004994	biolink:NamedThing			mondoexuq1wtf																														
DOID:10301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155734	biolink:NamedThing			mondoexuq1wtf																														
DOID:12030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:847	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93605	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721978002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4286	biolink:NamedThing			mondoexuq1wtf																														
DOID:3492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363481002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191258001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0475271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238762002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2584777	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403827000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708174	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110381	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364803	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C93268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717964007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675488	biolink:NamedThing			mondoexuq1wtf																														
DOID:3222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796080	biolink:NamedThing			mondoexuq1wtf																														
DOID:13326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191402006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0544008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674045	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9801004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189964003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202890003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002291	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006952	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:186	biolink:NamedThing			mondoexuq1wtf																														
DOID:2616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334477	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51642000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217990	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2614	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601208	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195139006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93656003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2966	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212998004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398760006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333788	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070047	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238032002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61565001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408644002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46764007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389236000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698279003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126737003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521533	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611630	biolink:NamedThing			mondoexuq1wtf																														
DOID:7926	biolink:NamedThing			mondoexuq1wtf																														
DOID:5467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025281	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721100009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014845	biolink:NamedThing			mondoexuq1wtf																														
DOID:3110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267817001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8282	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197227009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340464	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840471	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158580	biolink:NamedThing			mondoexuq1wtf																														
DOID:743	biolink:NamedThing			mondoexuq1wtf																														
DOID:2838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230196000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617875	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14232007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331244	biolink:NamedThing			mondoexuq1wtf																														
DOID:3642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3391	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856275	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059314	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193269007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:502437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150155	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836373	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609913	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715627004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1136339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254124008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278065000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79830009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732949006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859317	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840402	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721310007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3024	biolink:NamedThing			mondoexuq1wtf																														
DOID:6975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280933	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019601	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124711003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616828	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74225001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277602003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302892	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254774003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848639	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864801	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:596753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89597008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/155980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259810	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144750	biolink:NamedThing			mondoexuq1wtf																														
DOID:2452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66383009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35336	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255049003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618180	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114667	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197993007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248300	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78667006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010690	biolink:NamedThing			mondoexuq1wtf																														
DOID:3983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109977009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110516	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609515	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403194002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20696009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4317154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66344007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702361006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232420002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009085	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0017378	biolink:NamedThing	obsolete polymicrogyria-turricephaly-hypogenitalism syndrome		mondoexuq1wtf						Obsolete in Orphanet	MONDO:0000087			True		ICD10:Q87.8|Orphanet:2925|UMLS:CN227120																		owl:Class
ORPHA:2925	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85213	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269542007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C104813	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197477005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391817	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32022003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25967007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1828210	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196700003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110494	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70189005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27069	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:18	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/165510	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006501	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564323	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306522	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685894	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721227001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93778001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151630	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70341005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10041929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195940007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202163	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832475	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564144	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029121	biolink:NamedThing			mondoexuq1wtf																														
DOID:2828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609575003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400040008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716230005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1504369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59089002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254867003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80353004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93840005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190430	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367334003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155890000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79994003	biolink:NamedThing			mondoexuq1wtf																														
DOID:1499	biolink:NamedThing			mondoexuq1wtf																														
DOID:884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190267008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3672	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554539	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289157	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022412	biolink:NamedThing	obsolete albinism immunodeficiency		mondoexuq1wtf										True		GARD:0000590														https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency				owl:Class
SNOMEDCT:46085004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854893	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C66806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931302	biolink:NamedThing			mondoexuq1wtf																														
DOID:7206	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111684	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197371	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003924	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195257001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154473009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776870	biolink:NamedThing			mondoexuq1wtf																														
DOID:11633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:699	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1609535	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386584007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005689	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013801	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713498009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864497	biolink:NamedThing			mondoexuq1wtf																														
DOID:4608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836607	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613206	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199656005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186705005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268531	biolink:NamedThing			mondoexuq1wtf																														
DOID:77	biolink:NamedThing			mondoexuq1wtf																														
DOID:7033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931146	biolink:NamedThing			mondoexuq1wtf																														
DOID:4257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419760006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0695242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72965009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601859	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715626008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193391002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206197	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48475001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150741	biolink:NamedThing			mondoexuq1wtf																														
DOID:6523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15662003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51928006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269284003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863647	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35038	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201477	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300324	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254531	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40956001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10810001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726706008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:320350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275061	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37995004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194126004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194300003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109478007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254105005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110201	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304132006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602471	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97240	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155627006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:182782007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73762008	biolink:NamedThing			mondoexuq1wtf																														
DOID:585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155502006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565840	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34516	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1809	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19058002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN221667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618804	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66329006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855052	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329284	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1258090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16360009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399605	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810294	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4282208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295010	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155838	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110142	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN651336	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273770	biolink:NamedThing			mondoexuq1wtf																														
DOID:1357	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160980	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110305	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334523	biolink:NamedThing			mondoexuq1wtf																														
DOID:210	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015269	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267550008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:413838009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1280798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191776009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25904003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11399002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202777	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278740	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030481	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037451	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600332	biolink:NamedThing			mondoexuq1wtf																														
DOID:1649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48522003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154622009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264536006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7733	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707359008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537647	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156123001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27027	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010188	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6548	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564449	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187510	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225381	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237610008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722037004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118606001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608084	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566627	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245590	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266254007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018196	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840438	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109996008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97141	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9491003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50390006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57146	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266087	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9157	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543679	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65636009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206664	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864153	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65692009	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0045021	biolink:NamedThing	obsolete sucrose intolerance disease		mondoexuq1wtf	sucrose intolerance					See https://github.com/monarch-initiative/mondo/issues/886	MONDO:0009114			True		ICD9:271.3|SCTID:190753003																		owl:Class
SNOMEDCT:190753003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194128003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90507008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846631	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012791	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333992	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50821009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204900	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194792003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608180	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189743009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721221000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006677	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34644	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33226	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5319	biolink:NamedThing			mondoexuq1wtf																														
DOID:2773	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036069	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0860168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707379000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238052001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836602	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538086	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000747	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310702	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186499007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188596006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98682	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060415	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619135	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537813	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616402	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070077	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400105005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096349	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190982008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535844	biolink:NamedThing			mondoexuq1wtf																														
DOID:2286	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346087	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2039	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614862	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613862	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111261	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191950004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61628006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194141004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70794004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931599	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536318	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286908001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0859036	biolink:NamedThing			mondoexuq1wtf																														
DOID:2152	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:173300003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537493	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479534	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843173	biolink:NamedThing			mondoexuq1wtf																														
DOID:4045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166200	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110082	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616964	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154733	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10347006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157130001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720984008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535501	biolink:NamedThing			mondoexuq1wtf																														
DOID:11374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225182	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0476203	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62851005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013374	biolink:NamedThing			mondoexuq1wtf																														
DOID:10793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856897	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764989007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809858	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536219	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314655	biolink:NamedThing			mondoexuq1wtf																														
DOID:12307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186771002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66576001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92828000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94352	biolink:NamedThing			mondoexuq1wtf																														
DOID:14504	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718227006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27577	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050618	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040798	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154529	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763531001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2239351	biolink:NamedThing			mondoexuq1wtf																														
DOID:5147	biolink:NamedThing			mondoexuq1wtf																														
DOID:9946	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013278	biolink:NamedThing			mondoexuq1wtf																														
DOID:476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685838	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204184001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227820	biolink:NamedThing			mondoexuq1wtf																														
DOID:867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67814005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612095	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000049	biolink:NamedThing	obsolete invasive pneumococcal disease, recurrent isolated		mondoexuq1wtf						Obsolete in OMIM.	MONDO:0021094			True		UMLS:CN228622|OMIMPS:610799|DC:0000227														https://github.com/monarch-initiative/mondo/issues/2339				owl:Class
UMLS:CN228622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194007005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79279	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158600006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280663	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332277	biolink:NamedThing			mondoexuq1wtf																														
DOID:12395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333441	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017191	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93675008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4328	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026891	biolink:NamedThing			mondoexuq1wtf																														
DOID:9544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600852	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538072	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200824008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190168009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155118	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29074008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253013001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:441452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133743	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266440002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334558	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406363	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93974	biolink:NamedThing			mondoexuq1wtf																														
DOID:3342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278862	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34997	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30483005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469542	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206642	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99925	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309520	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233690	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158761	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255021005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150675	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1721016	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060414	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240032001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94064	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060427	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048627	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110318	biolink:NamedThing			mondoexuq1wtf																														
DOID:407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38907003	biolink:NamedThing			mondoexuq1wtf																														
DOID:12364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206709	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231896005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72050006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203122005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4283007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98842	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733601006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155039002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227835	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53593008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600771	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564883	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028945	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15619004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678039	biolink:NamedThing			mondoexuq1wtf																														
DOID:1475	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110856	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565058	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27420004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4086162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017624	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050923	biolink:NamedThing			mondoexuq1wtf																														
DOID:6641	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860614	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001660	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:310671007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616258	biolink:NamedThing			mondoexuq1wtf																														
DOID:13275	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C136653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276436007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334465	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562738	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118450	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031069	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839612	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673470	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719817002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98599	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109844006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190279008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78493	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005329	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190023003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110033	biolink:NamedThing			mondoexuq1wtf																														
DOID:786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839909	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37722001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324764	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013700	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332517	biolink:NamedThing			mondoexuq1wtf																														
DOID:1858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703711007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73918009	biolink:NamedThing			mondoexuq1wtf																														
DOID:214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034050	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230780007	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020802	biolink:NamedThing	obsolete basal cell cancer	A neoplasm composed of basal cells that metastasizes to other anatomic sites.	mondoexuq1wtf				MONDO:0020804		Obsoleted as it is equivalent to basal cell carcinoma. See https://github.com/monarch-initiative/mondo/issues/2495				True		NCIT:C7586																		owl:Class
ORPHA:231031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275254	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79156	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300577	biolink:NamedThing			mondoexuq1wtf																														
DOID:620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34893	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732263008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424548006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300271	biolink:NamedThing			mondoexuq1wtf																														
DOID:11819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4478372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134179007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152238	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111423	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0233778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2718078	biolink:NamedThing			mondoexuq1wtf																														
DOID:4270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850626	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426451004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718103001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79268002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060397	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:735686002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84884003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835927	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268743	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266401007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601471	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080605	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4278	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300373	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677097	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398709	biolink:NamedThing			mondoexuq1wtf																														
DOID:5123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2980104	biolink:NamedThing			mondoexuq1wtf																														
DOID:8454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126925009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080278	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310674	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001198	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005084	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:608654	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200763009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234590006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72787006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332220	biolink:NamedThing			mondoexuq1wtf																														
DOID:9784	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL323981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267548000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192254002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050827	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404079008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267373004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180182	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123726	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110126	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155421001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102450007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265057	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59494005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376532	biolink:NamedThing			mondoexuq1wtf																														
DOID:7400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304539	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27942	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302360	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1906	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540293	biolink:NamedThing			mondoexuq1wtf																														
DOID:7076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002890	biolink:NamedThing			mondoexuq1wtf																														
DOID:8947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280352	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30242009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299238	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419503008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846520	biolink:NamedThing			mondoexuq1wtf																														
DOID:2355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80880002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54160000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:458003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255039001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719518004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82403002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14107000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617985	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018220	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:CN200619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342508	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34840	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73160007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156169001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192808003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237991006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026976	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227171	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126697005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153646	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3204	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1505	biolink:NamedThing			mondoexuq1wtf																														
DOID:10230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90786	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011236	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3814534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236628	biolink:NamedThing			mondoexuq1wtf																														
DOID:3861	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166775	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010016	biolink:NamedThing			mondoexuq1wtf																														
DOID:5630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17025000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853202	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011038	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266146001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3536714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254900004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN924917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715628009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193888007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014430	biolink:NamedThing			mondoexuq1wtf																														
DOID:0002116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266410004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN438428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363468009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264120	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127162	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192687008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609432	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47125007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3402	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363435002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200479	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751544	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195475003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46935006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234975001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18899000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN159238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181381	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449096009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205527009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195258006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36379004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617395	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535301	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59848001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:597201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190980000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180199	biolink:NamedThing			mondoexuq1wtf																														
DOID:10518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032306	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3254	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612632	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82732003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2403008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269038	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111562000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39955	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56786000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6331000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27369	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99718	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253851000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050140	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115993	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005499	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C135726	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/221790	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444910004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66189004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193803001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615688	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10046752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111726	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234109007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610149	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610438	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209970	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537419	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27886001	biolink:NamedThing			mondoexuq1wtf																														
DOID:13014	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4142	biolink:NamedThing			mondoexuq1wtf																														
DOID:4645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536568	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:493348	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153439	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567514	biolink:NamedThing			mondoexuq1wtf																														
DOID:13198	biolink:NamedThing			mondoexuq1wtf																														
DOID:1999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9105005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609284	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341769	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3942	biolink:NamedThing			mondoexuq1wtf																														
DOID:1792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618677	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201052007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162316	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207061	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:49804	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196800008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410059004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060814	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613205	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221406	biolink:NamedThing			mondoexuq1wtf																														
DOID:5240	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156471009	biolink:NamedThing			mondoexuq1wtf																														
DOID:92	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862414	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C150555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230461009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195624006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43790000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717977003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003650	biolink:NamedThing			mondoexuq1wtf																														
DOID:3206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417137001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294944	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195180004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:119523007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128777004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205187	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063042	biolink:NamedThing			mondoexuq1wtf																														
DOID:4540	biolink:NamedThing			mondoexuq1wtf																														
DOID:4038	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/128000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63119004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402736003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397826007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134329004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46580000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750065	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404808000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851755	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155295004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1425	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314466003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191480000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0395863	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018477	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2662170019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724142005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389161008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832437	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110498	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253040001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59531002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156009000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2918000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236461000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616445	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338484	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111373008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414916001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851112	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187871003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185069	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537792	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752027	biolink:NamedThing			mondoexuq1wtf																														
DOID:11797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64969001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601138	biolink:NamedThing			mondoexuq1wtf																														
DOID:4873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204116009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548035	biolink:NamedThing			mondoexuq1wtf																														
DOID:14683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98028	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715923003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013606	biolink:NamedThing			mondoexuq1wtf																														
DOID:8661	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81282009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217340	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931545	biolink:NamedThing			mondoexuq1wtf																														
DOID:4143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376620	biolink:NamedThing			mondoexuq1wtf																														
DOID:9602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15033003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92679008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0078918	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567327	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156908005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156416008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40122008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186343005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853124	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190304001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397378002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10325006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275974	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352641	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020945	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253907008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93608	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733469003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715984007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605841	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715647007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207012	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4478379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443095000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715827001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007873	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57145	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68172002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN321864	biolink:NamedThing			mondoexuq1wtf																														
DOID:6249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239030004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29076005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519924	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022448	biolink:NamedThing	obsolete amyoplasia mandibulofacial dysostosis		mondoexuq1wtf										True		GARD:0000660														https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis				owl:Class
SNOMEDCT:27019000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80962007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191363000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200488	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062788	biolink:NamedThing			mondoexuq1wtf																														
DOID:11917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563994	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191263002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94075002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45894003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3891	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134154009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236385009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008683	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617107	biolink:NamedThing			mondoexuq1wtf																														
DOID:8230	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000068116	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5671	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567687	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535466	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617609	biolink:NamedThing			mondoexuq1wtf																														
DOID:6657	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35562	biolink:NamedThing			mondoexuq1wtf																														
DOID:8688	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563160	biolink:NamedThing			mondoexuq1wtf																														
DOID:783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335381	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057429	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193988008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201960	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26755	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1756	biolink:NamedThing			mondoexuq1wtf																														
DOID:1659	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565065	biolink:NamedThing			mondoexuq1wtf																														
DOID:13133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363972	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275024	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267745004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47317002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40121	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19346006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112122	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5451	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111527	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330041	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324636	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013720	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751615	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567364	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/232500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867983	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009293	biolink:NamedThing			mondoexuq1wtf																														
DOID:771	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187090005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206687	biolink:NamedThing			mondoexuq1wtf																														
DOID:7849	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603438	biolink:NamedThing			mondoexuq1wtf																														
DOID:6932	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456328	biolink:NamedThing			mondoexuq1wtf																														
DOID:9307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2913	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277317008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931621	biolink:NamedThing			mondoexuq1wtf																														
DOID:8144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613030	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62371005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931456	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289877	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187684005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193007004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230314007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066796	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389158007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53132006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716094008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186906003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715487005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266287006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271815	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715769008	biolink:NamedThing			mondoexuq1wtf																														
DOID:3264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751291	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748496	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196058009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5460	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857578	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443520009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3192005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363392002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73067008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562397	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070188	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601816	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212890	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3787	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414644002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845540	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238763007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61142002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342376	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232373003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C93040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3160	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716746003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157987	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29491004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809434	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535869	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74368002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155100008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63363004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25603007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408857007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397696004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763861000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203981	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70199000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:471383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846220	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070027	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154304003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40293003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3736	biolink:NamedThing			mondoexuq1wtf																														
DOID:7752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3532	biolink:NamedThing			mondoexuq1wtf																														
DOID:5625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69127	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:165658	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036875	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72779005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111322000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1504431	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1117	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3723001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400171002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038353	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97955	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5505	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36060005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0457014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615919	biolink:NamedThing			mondoexuq1wtf																														
DOID:2835	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765136002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156658000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5792	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92205005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4083048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188214009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205808005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765137006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136550	biolink:NamedThing			mondoexuq1wtf																														
DOID:3309	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26717	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27978000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613345	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15169008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51604006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194880009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254106006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332539	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186092009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423708008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280071	biolink:NamedThing			mondoexuq1wtf																														
DOID:1233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565421	biolink:NamedThing			mondoexuq1wtf																														
DOID:3674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57138009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238081000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479656	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536226	biolink:NamedThing			mondoexuq1wtf																														
DOID:7731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230191005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266177004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535651	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18735004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0554114	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536028	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127581004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95278004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439960005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553839	biolink:NamedThing			mondoexuq1wtf																														
DOID:14268	biolink:NamedThing			mondoexuq1wtf																														
DOID:10548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601356	biolink:NamedThing			mondoexuq1wtf																														
DOID:4734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70410008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42344001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613971	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614496	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539123	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7729	biolink:NamedThing			mondoexuq1wtf																														
DOID:440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266186009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192106002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189575005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270547008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276504003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238639005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766251006	biolink:NamedThing			mondoexuq1wtf																														
DOID:305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19929002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111384001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707358000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267377003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721200000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2485	biolink:NamedThing			mondoexuq1wtf																														
DOID:8478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612847	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007773	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617883	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154472004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30546008	biolink:NamedThing			mondoexuq1wtf																														
DOID:724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715988005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43891009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:250068003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254750001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567633	biolink:NamedThing			mondoexuq1wtf																														
DOID:4437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050593	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308290	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247397004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724648008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276095	biolink:NamedThing			mondoexuq1wtf																														
DOID:12108	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47638000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155316000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6933	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206657	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31047003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267183006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39854	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970236	biolink:NamedThing			mondoexuq1wtf																														
DOID:5077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020499	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535758	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751052	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98822	biolink:NamedThing			mondoexuq1wtf																														
DOID:8463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237833006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61530001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154535008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302863006	biolink:NamedThing			mondoexuq1wtf																														
DOID:13269	biolink:NamedThing			mondoexuq1wtf																														
DOID:13819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95465	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202421	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864843	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197883004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:39044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193102	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:706	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430476004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342488	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270855	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715414009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:282196	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276064006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156098004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441809006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97282	biolink:NamedThing			mondoexuq1wtf																														
DOID:4648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221759	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715952000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48167000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129609000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4321324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21328003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10234	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535770	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110956	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9389005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1468004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720514008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198378001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263482	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64741003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151468	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240097009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238824006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187847005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290403	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234485006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3397	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50007008	biolink:NamedThing			mondoexuq1wtf																														
DOID:6132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1691228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719271000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268139	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300054	biolink:NamedThing			mondoexuq1wtf																														
DOID:1388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254620000	biolink:NamedThing			mondoexuq1wtf																														
DOID:2817	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764845008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720958002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155354	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227189	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745959	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016878	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090033	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060707	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266680004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432221	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190105009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123324009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079218	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725904009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91953003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14215	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111375	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88531004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257763	biolink:NamedThing			mondoexuq1wtf																														
DOID:7521	biolink:NamedThing			mondoexuq1wtf																														
DOID:104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429033009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613944	biolink:NamedThing			mondoexuq1wtf																														
DOID:292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93527005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601454	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267917	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202206	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064281	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3698315	biolink:NamedThing			mondoexuq1wtf																														
DOID:4248	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228272	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006111	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045824	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238007004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58069009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137577	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239011004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92197001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85212	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79219	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3216	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:104011	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399995006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565046	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336921	biolink:NamedThing			mondoexuq1wtf																														
DOID:8305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6888	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255184001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189580001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126916003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363453008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124271005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198046000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763320005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39594	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721809007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2134	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110659	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110806	biolink:NamedThing			mondoexuq1wtf																														
DOID:2475	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014283	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194281003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931695	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432224	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3267073	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94100005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566594	biolink:NamedThing			mondoexuq1wtf																														
DOID:3742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34525	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254240003	biolink:NamedThing			mondoexuq1wtf																														
DOID:7086	biolink:NamedThing			mondoexuq1wtf																														
DOID:3251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230450001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448868009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540521	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617933	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858673	biolink:NamedThing			mondoexuq1wtf																														
DOID:6420	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5714	biolink:NamedThing			mondoexuq1wtf																														
DOID:8186	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363693003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14159	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101084	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194015008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272804	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156185006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206062	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409966000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080522	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40039	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050775	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63862	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1701938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849195	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445448008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419671004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262963	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192383002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197857009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536087	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C80078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709031009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:219	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468672	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110913	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:833	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13536004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716020005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708792	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12337004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85162	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254822005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230507009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031090	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74728003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3247204	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128083007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254937005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609141	biolink:NamedThing			mondoexuq1wtf																														
DOID:7764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837501	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN182502	biolink:NamedThing			mondoexuq1wtf																														
DOID:8464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155946009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763666008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862441	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614486	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567835	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18941000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206226	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71779008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854990	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61700007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795910	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044254	biolink:NamedThing	obsolete dermatoglyphics--hypothenar radial arch		mondoexuq1wtf	dermatoglyphics--hypothenar radial arch					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:221780																		owl:Class
http://identifiers.org/omim/221780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197811007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565336	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002625	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85410	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0301928	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:9	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150215	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071569	biolink:NamedThing			mondoexuq1wtf																														
DOID:6293	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840643	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259410	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703536004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186973005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D038901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721584005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391307	biolink:NamedThing			mondoexuq1wtf																														
DOID:5510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191166001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92537005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702410002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868581	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188239000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852271	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237062006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153636	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617433	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002764	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516404	biolink:NamedThing			mondoexuq1wtf																														
DOID:874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392553	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067610	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110197	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192045005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45481	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87688009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274089002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:842	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011022	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192095006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2513	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157749	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119034	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0685941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254837	biolink:NamedThing			mondoexuq1wtf																														
DOID:1130	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118707	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305259	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9493	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5518	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99807	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:287010008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197229007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4213	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52333004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128892009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448992002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605544	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080358	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003230	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310776	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549447	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231147	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:500478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97097	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615866	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050472	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206985003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10007009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448804008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0458220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0577620	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149825	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156520	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334030	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203415006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163933	biolink:NamedThing			mondoexuq1wtf																														
DOID:5204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856059	biolink:NamedThing			mondoexuq1wtf																														
DOID:10780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189164002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124221007	biolink:NamedThing			mondoexuq1wtf																														
DOID:5518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611308	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84708	biolink:NamedThing			mondoexuq1wtf																														
DOID:5287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2709	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272200	biolink:NamedThing			mondoexuq1wtf																														
DOID:14244	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111383007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21008007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203467005	biolink:NamedThing			mondoexuq1wtf																														
DOID:14502	biolink:NamedThing			mondoexuq1wtf																														
DOID:1742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3899503	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021874	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700553	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3179	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564473	biolink:NamedThing			mondoexuq1wtf																														
DOID:4379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614073	biolink:NamedThing			mondoexuq1wtf																														
DOID:10377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4538788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563736	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060867	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030517	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864940	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D049932	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111331	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019694	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931454	biolink:NamedThing			mondoexuq1wtf																														
MESH:D047268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:401311008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537498	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564697	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360367001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189702009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D024741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238309	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535914	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123814	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3496579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193865006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029380	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537018	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619123	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN119611	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194326008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206559	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1331532	biolink:NamedThing			mondoexuq1wtf																														
DOID:8660	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411493	biolink:NamedThing			mondoexuq1wtf																														
DOID:8566	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053884	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240186007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070015	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309178	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557817	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226711	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604329	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:708	biolink:NamedThing			mondoexuq1wtf																														
DOID:14181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156817009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363534	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:433068007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016538	biolink:NamedThing			mondoexuq1wtf																														
DOID:13371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202701004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726733007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124575	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266625006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61808009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190503006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253900005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23919004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392998	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809503	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027726	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41115008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197455006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403557001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868590	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71276	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192888001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309271	biolink:NamedThing			mondoexuq1wtf																														
DOID:10969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037619	biolink:NamedThing			mondoexuq1wtf																														
DOID:9120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59763006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702312009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414488002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642437	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254887002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969657	biolink:NamedThing			mondoexuq1wtf																														
DOID:10811	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211120	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57773001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004701	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721076000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267709002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163931	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155047002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN778765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723336008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268349005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367399005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060413	biolink:NamedThing			mondoexuq1wtf																														
DOID:417	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267514001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20307000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015463	biolink:NamedThing			mondoexuq1wtf																														
DOID:2449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98946	biolink:NamedThing			mondoexuq1wtf																														
DOID:7032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271680	biolink:NamedThing			mondoexuq1wtf																														
DOID:4686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84892	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563496	biolink:NamedThing			mondoexuq1wtf																														
DOID:4333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608088	biolink:NamedThing			mondoexuq1wtf																														
DOID:6620	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618846	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4853	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334406	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109978004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510867	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014918	biolink:NamedThing			mondoexuq1wtf																														
DOID:11254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5640	biolink:NamedThing			mondoexuq1wtf																														
DOID:1474	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34346	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062695	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3792	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5226	biolink:NamedThing			mondoexuq1wtf																														
DOID:254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203285	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268388	biolink:NamedThing			mondoexuq1wtf																														
DOID:2749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300977	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765757003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5260	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536049	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254616004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346256	biolink:NamedThing			mondoexuq1wtf																														
DOID:8256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100991	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111554	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110478	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19905009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186817003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517124	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3551443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37548006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495426	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080563	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193959007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808920	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:418951	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:164004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232285008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609325	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3755001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722477003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036117	biolink:NamedThing			mondoexuq1wtf																														
DOID:3153	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152131	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264710	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15394000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563719	biolink:NamedThing			mondoexuq1wtf																														
DOID:1891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1421994	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198168008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34513009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155011	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715980003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414792005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2040007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707756004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931811	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:570422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156973002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41910004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:894	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725036000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563552	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080613	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810332	biolink:NamedThing			mondoexuq1wtf																														
DOID:7819	biolink:NamedThing			mondoexuq1wtf																														
DOID:6634	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858266	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080288	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193143008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16397004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402781004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1143	biolink:NamedThing			mondoexuq1wtf																														
DOID:9717	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060655	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675480	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4659	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198414005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111641	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C68677	biolink:NamedThing			mondoexuq1wtf																														
DOID:6931	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607683	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4948	biolink:NamedThing			mondoexuq1wtf																														
DOID:1407	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480512	biolink:NamedThing			mondoexuq1wtf																														
DOID:9273	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0519030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336021	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050930	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266255	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6919	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536392	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342744	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11687002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1489008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363420003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200916004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154079	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190445005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809356	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536266	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121450	biolink:NamedThing			mondoexuq1wtf																														
DOID:3071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205411004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36803009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196733008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48971001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189843003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88981003	biolink:NamedThing			mondoexuq1wtf																														
DOID:649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3283	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499085	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10007089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237985009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34387	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111020	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715140008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:162186008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7794	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444150000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612948	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608636	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070157	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9057007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242113	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004942	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563890	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83092002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842605	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187704002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931038	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191043000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254646001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58912008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6459	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856058	biolink:NamedThing			mondoexuq1wtf																														
DOID:7315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128116	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93467008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149627	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566470	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009497	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C33645	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050911	biolink:NamedThing			mondoexuq1wtf																														
DOID:12557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203371007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151264	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155132008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535687	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370938	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1149	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1277	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563907	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618666	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019187	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707747007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3552553	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613678	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065134	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56925008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9166	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:504530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62151007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609255	biolink:NamedThing			mondoexuq1wtf																														
DOID:4868	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833339	biolink:NamedThing			mondoexuq1wtf																														
DOID:13767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342770	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856728	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618291	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040252	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191991002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614187	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410795001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46536000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96070	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008104	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227090	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536026	biolink:NamedThing			mondoexuq1wtf																														
DOID:998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4350	biolink:NamedThing			mondoexuq1wtf																														
DOID:3196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842922	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134191003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866994	biolink:NamedThing			mondoexuq1wtf																														
DOID:4788	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37272000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN653907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269485000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126768004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411634	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111198	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124432005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2732890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2992000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203741	biolink:NamedThing			mondoexuq1wtf																														
DOID:3373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194935007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3099	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723823004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266510002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277700	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0005863	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
SNOMEDCT:363464006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271200007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8072	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192867005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136120	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91226007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415105001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537731	biolink:NamedThing			mondoexuq1wtf																														
DOID:3950	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044238	biolink:NamedThing	obsolete lunulae of fingernails		mondoexuq1wtf	lunulae of fingernails					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:152600																		owl:Class
UMLS:C1186306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66121003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201888	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714644	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3655	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062506	biolink:NamedThing			mondoexuq1wtf																														
MESH:D062688	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263425	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110867	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237444008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C557815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845165	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015267	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720976009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155124000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864852	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538494	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567699	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6615	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186960006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155533008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197260007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335177	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009347	biolink:NamedThing			mondoexuq1wtf																														
DOID:319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261781	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196737009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238091006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414241	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300227	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302901005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275495	biolink:NamedThing			mondoexuq1wtf																														
DOID:3021	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615248	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0022698	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
DOID:8208	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257270	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734023003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41354	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277108	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2937419	biolink:NamedThing			mondoexuq1wtf																														
DOID:180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722109008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206278008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206363	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231486008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012714	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3534	biolink:NamedThing			mondoexuq1wtf																														
DOID:11336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238393	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536406	biolink:NamedThing			mondoexuq1wtf																														
DOID:4433	biolink:NamedThing			mondoexuq1wtf																														
DOID:10095	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193905009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5043	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535570	biolink:NamedThing			mondoexuq1wtf																														
DOID:3933	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752149	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718713000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70572005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239806000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:681	biolink:NamedThing			mondoexuq1wtf																														
DOID:13566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95605009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75567	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225214	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255003007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3182	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186280001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200580	biolink:NamedThing			mondoexuq1wtf																														
DOID:5660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11671000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9291	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567262	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51577008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92644006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275281	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10074765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310764	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9899009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536101	biolink:NamedThing			mondoexuq1wtf																														
DOID:2326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2587	biolink:NamedThing			mondoexuq1wtf																														
DOID:11702	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566446	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1112	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606593	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397380008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359643005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306930	biolink:NamedThing			mondoexuq1wtf																														
DOID:6988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414821002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024641	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:596937	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267549008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855476	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110306	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024437	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008108	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192989008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050780	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190489005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302350	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42908004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12185	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200850007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566658	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037305	biolink:NamedThing			mondoexuq1wtf																														
DOID:4953	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26988005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050836	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80902009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225188	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836635	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3226	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68496003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189837000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155135005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615476	biolink:NamedThing			mondoexuq1wtf																														
DOID:1094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564283	biolink:NamedThing			mondoexuq1wtf																														
DOID:9500	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206514004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187739002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859407	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4048306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604827	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368888	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618699	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48259	biolink:NamedThing			mondoexuq1wtf																														
DOID:1240	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234554004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:422526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267424007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300100	biolink:NamedThing			mondoexuq1wtf																														
DOID:10069	biolink:NamedThing			mondoexuq1wtf																														
DOID:10261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264944	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153655	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060638	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36715001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12676007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226718	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3593	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619143	biolink:NamedThing			mondoexuq1wtf																														
DOID:3637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155715004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618426	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751697	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718214007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188719003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718558008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110457	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189854008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154481005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721878003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85904008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:357182002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389986000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850555	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018347	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837151	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716660007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94078000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43486001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204201	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080342	biolink:NamedThing			mondoexuq1wtf																														
DOID:8302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363965	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931397	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090074	biolink:NamedThing			mondoexuq1wtf																														
DOID:12177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334405	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266617009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864265	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110164	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720457000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35697	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013734	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614946	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11010461000119101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268173	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162350	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110015	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562603	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86406008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59032001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609573005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855473	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84748	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049977	biolink:NamedThing			mondoexuq1wtf																														
DOID:901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70607008	biolink:NamedThing			mondoexuq1wtf																														
DOID:2112	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77299006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271798008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269558005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275339	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863080	biolink:NamedThing			mondoexuq1wtf																														
DOID:572	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721148005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14535005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845862	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3312	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84574	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213726	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3148	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/102349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254083002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:244283	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237430	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92531006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553288	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031036	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237941007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16517004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4991	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832353	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158570	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232691000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060412	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703616008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719514002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49774006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65399007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253772005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206644	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85769006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36428	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11999007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153364	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103909	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289986	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564654	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617788	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123596001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156354007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204690001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203111006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18389004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611247	biolink:NamedThing			mondoexuq1wtf																														
DOID:1563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604352	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28950004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719098007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007952	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001883	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618879	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155178000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562884	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110794	biolink:NamedThing			mondoexuq1wtf																														
DOID:4659	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392300000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511320	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3556	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155661008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865915	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5361	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4527	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155421	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185050	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607731	biolink:NamedThing			mondoexuq1wtf																														
DOID:3092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/220600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79270	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2013	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254989000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226635	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000600608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4776004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:99571000119102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207535006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70691001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536448	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93395	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C104003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115248004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68827007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140900	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399169	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002018	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70592	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008928	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232086000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194112008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44297005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9149	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153167	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282207	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732959007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193480005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201496000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39898005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335327	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35434009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19133005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537243	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715989002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268187	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20018005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155579003	biolink:NamedThing			mondoexuq1wtf																														
DOID:13544	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190275002	biolink:NamedThing			mondoexuq1wtf																														
DOID:9766	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101120	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157118007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C168333	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0007468	biolink:NamedThing	obsolete DNA, satellite, alpha type		mondoexuq1wtf	DNA, satellite, alpha type					Not a disorder				True		OMIM:126410														https://github.com/monarch-initiative/mondo/issues/2287				owl:Class
http://identifiers.org/omim/126410	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112676006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007815	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050575	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29618004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155364009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018296	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5138	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:315311	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764711007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128734000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254725004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766240006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566513	biolink:NamedThing			mondoexuq1wtf																														
DOID:11180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1534008	biolink:NamedThing			mondoexuq1wtf																														
DOID:12697	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155313008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749873	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5689008	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000801	biolink:NamedThing	obsolete green mud crab allergy	A allergic disease involving a green mud crab.	mondoexuq1wtf	allergy of green mud crab|green mud crab allergic disease|Scylla paramamosain allergy|crab allergy	MONDO:outOfScope								True		DOID:0060526														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537092	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5102002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850341	biolink:NamedThing			mondoexuq1wtf																														
DOID:12529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119677	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168778	biolink:NamedThing			mondoexuq1wtf																														
DOID:4928	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10813004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9362	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070258	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267771000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195976008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619090	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724284005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C14220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301024	biolink:NamedThing			mondoexuq1wtf																														
DOID:8738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24867002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040582	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053447	biolink:NamedThing			mondoexuq1wtf																														
DOID:7756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35807	biolink:NamedThing			mondoexuq1wtf																														
DOID:7962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61288004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090131	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203290	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111327	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307055	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564943	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027828	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050802	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070117	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080538	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007789	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368275	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15945005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393725	biolink:NamedThing			mondoexuq1wtf																														
DOID:2538	biolink:NamedThing			mondoexuq1wtf																														
DOID:762	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618496	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537828	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857532	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537308	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231947004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1285159	biolink:NamedThing			mondoexuq1wtf																														
DOID:14228	biolink:NamedThing			mondoexuq1wtf																														
DOID:9938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84580	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128920006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3216	biolink:NamedThing			mondoexuq1wtf																														
DOID:6621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310751	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015620	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40009002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14785004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1708776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200437	biolink:NamedThing			mondoexuq1wtf																														
DOID:4251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269500	biolink:NamedThing			mondoexuq1wtf																														
DOID:750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301990003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31798004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235754	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2141	biolink:NamedThing			mondoexuq1wtf																														
DOID:4163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751713	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265856	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126937006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110683	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028879	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154889000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832814	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197785002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230410004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124474000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284271	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61582004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35111000119109	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128139000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1955934	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849140	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186308009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155614007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2898	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27174002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85197	biolink:NamedThing			mondoexuq1wtf																														
DOID:135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697905000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540127	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84895	biolink:NamedThing			mondoexuq1wtf																														
DOID:3730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720861000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403780007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719276005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420402	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642344	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847725	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090132	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63495002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65626001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186882000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9294008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5464	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220977	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279665	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535417	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190533004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111904	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060589	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562682	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195021004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041473	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137360	biolink:NamedThing			mondoexuq1wtf																														
DOID:5494	biolink:NamedThing			mondoexuq1wtf																														
DOID:10423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263382	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263859	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023452	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2717757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154636004	biolink:NamedThing			mondoexuq1wtf																														
DOID:3924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207238	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4504	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:737580004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80660001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202172	biolink:NamedThing			mondoexuq1wtf																														
DOID:11836	biolink:NamedThing			mondoexuq1wtf																														
DOID:14749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387927001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6814	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268063	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401835	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367093001	biolink:NamedThing			mondoexuq1wtf																														
DOID:100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190316007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234053000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190978006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221074	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536223	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676722	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080439	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423738	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201450	biolink:NamedThing			mondoexuq1wtf																														
DOID:7191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198027001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231720	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155623005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363142	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447757	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6585	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:310789003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201217	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84587	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055953	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75253008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155036009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200110	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69763009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008374	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4298	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41174002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4441	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186089005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618862	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98674	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195298008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444820005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69463008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64479007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190328004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227684	biolink:NamedThing			mondoexuq1wtf																														
DOID:4696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766767001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931507	biolink:NamedThing			mondoexuq1wtf																														
DOID:12399	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562993	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014075	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85777005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154817	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236469003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3242	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403913006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614495	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014476	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202869006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050026	biolink:NamedThing			mondoexuq1wtf																														
DOID:14777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849169	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332268	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349664	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2772003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565607	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:303098002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47306003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1234	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237608	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1420653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153416	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156249	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155772009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267537007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370999003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156559001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3283	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128418	biolink:NamedThing			mondoexuq1wtf																														
DOID:3274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205600001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265482	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1301363	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253017000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154736007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203487006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834581	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300636	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24743004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10651001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764961009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225222	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82272006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722033000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724225008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:200037	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300195001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295239	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403832004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4303	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39892006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567752	biolink:NamedThing			mondoexuq1wtf																														
DOID:900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864825	biolink:NamedThing			mondoexuq1wtf																														
DOID:7520	biolink:NamedThing			mondoexuq1wtf																														
DOID:5777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360525006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150660	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166265	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613392	biolink:NamedThing			mondoexuq1wtf																														
DOID:4855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276177000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87101	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87511001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864303	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0858542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110994	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864199	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866094	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340177	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240151005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190507007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0559185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124462004	biolink:NamedThing			mondoexuq1wtf																														
DOID:8619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019159	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6536	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000606	biolink:NamedThing	obsolete gluten allergy	A allergy involving gluten.	mondoexuq1wtf	allergy of gluten|allergy to gluten|gluten allergic disease|gluten allergic reaction	MONDO:outOfScope								True		DOID:0060057														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2064642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250908	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68614005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194197001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189921005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193376004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87665008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449254004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126998003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234578009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN357508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0702159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154443000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613265	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608653	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110548	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051875	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003861	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6164	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93984006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187036002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3469527	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519914	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764690001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398071000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726735000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1785	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145680	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253902002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206474007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268363	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191350006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93143009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0850572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154899005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:155899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000756	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261500	biolink:NamedThing			mondoexuq1wtf																														
DOID:10627	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006480	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846533	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192896006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68637004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126872	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367417005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85057	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718609003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302837001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300299	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20673009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858840	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101022	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252057	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84975	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203961	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240627001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189573003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765091006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26862	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716994006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8273	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37913	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187819006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100014	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023234	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254749	biolink:NamedThing			mondoexuq1wtf																														
DOID:6210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849416	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616651	biolink:NamedThing			mondoexuq1wtf																														
DOID:520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111196000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151467	biolink:NamedThing			mondoexuq1wtf																														
DOID:2533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752035	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84479	biolink:NamedThing			mondoexuq1wtf																														
DOID:235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362727005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193028008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236496000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616040	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614521	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931590	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314270008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359640008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88518009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80612004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029530	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14077003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13816006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004915	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613707	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84852005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266175	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251899	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264080	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C157449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536061	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536688	biolink:NamedThing			mondoexuq1wtf																														
DOID:153	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4377	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0018802	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:C3151136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254060000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40488004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154448009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90858003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313242003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267715002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333497	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070165	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838612	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4023011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796125	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54122009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186296003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56604005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833218	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40178009	biolink:NamedThing			mondoexuq1wtf																														
DOID:2859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537607	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126853008	biolink:NamedThing			mondoexuq1wtf																														
DOID:480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200998004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4552078	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416991005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262587	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C173543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126678005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1719788	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615352	biolink:NamedThing			mondoexuq1wtf																														
DOID:552	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038012	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5845	biolink:NamedThing			mondoexuq1wtf																														
DOID:7820	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9426	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79374	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111080	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000842	biolink:NamedThing			mondoexuq1wtf										True																				owl:Class
UMLS:CN205136	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614927	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341823	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51290000	biolink:NamedThing			mondoexuq1wtf																														
DOID:6536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703540008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11129	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10074631	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189549006	biolink:NamedThing			mondoexuq1wtf																														
DOID:2101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310765	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205034	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5374	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4605	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253775007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127024001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49701002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47505003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120446	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73305009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847622	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82304009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336543	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197983000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194372007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115124	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007384	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88154004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010043	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6492	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42393006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36087	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35122	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301940	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203357004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194340009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367434002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:733	biolink:NamedThing			mondoexuq1wtf																														
DOID:13964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002761	biolink:NamedThing			mondoexuq1wtf																														
DOID:1361	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043515	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050160	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034049	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015405	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721165001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3875286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0112197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155301003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363376007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66758006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2363755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795814	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C100051	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536123	biolink:NamedThing			mondoexuq1wtf																														
DOID:5285	biolink:NamedThing			mondoexuq1wtf																														
DOID:891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44779003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263746	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128349	biolink:NamedThing			mondoexuq1wtf																														
DOID:3213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237535	biolink:NamedThing			mondoexuq1wtf																														
DOID:9969	biolink:NamedThing			mondoexuq1wtf																														
DOID:5444	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:128	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110537	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600356	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538375	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151860	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156172008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2362538	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154696001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35909	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/881357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0701163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1656392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363677007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609345	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005642	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535860	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267575007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196303003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448267	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100084	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18978002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014061	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156814002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029411	biolink:NamedThing			mondoexuq1wtf																														
DOID:6776	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403909004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31709	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67280001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402773000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014177	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537322	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226631	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:74	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346075	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73415002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721842008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406355	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751312	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38157	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308487	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4521680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810156	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519867	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036023	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4760875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615184	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085652	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720415006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3129	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253057002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858725	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44250009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239089006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34985	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006974	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010146	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6121001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3105	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:557003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716647001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006402	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614742	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205824	biolink:NamedThing			mondoexuq1wtf																														
DOID:851	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126968005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060549	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204718	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155675	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11389007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56557000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614941	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147260	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043322	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110304	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235653009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722127006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090140	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349582	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7356	biolink:NamedThing			mondoexuq1wtf																														
DOID:7237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26937	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363382005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/259775	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:377788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118930001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27544004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57514000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155103005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416377005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007286	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709105005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5861	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114771	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0598226	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195119007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139411	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191369001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265202	biolink:NamedThing			mondoexuq1wtf																														
DOID:7455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266282000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99938	biolink:NamedThing			mondoexuq1wtf																														
DOID:8535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566541	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119057	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4250	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187025009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71111008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46319007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41006004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367376006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205653	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:167848	biolink:NamedThing			mondoexuq1wtf																														
DOID:8337	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31722008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122656	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613026	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156601	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300705	biolink:NamedThing			mondoexuq1wtf																														
DOID:3146	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566899	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304513	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87522002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126488004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5842	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565284	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187527007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6758009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015253	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0558355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97283	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748484	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054069	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3148763	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970118	biolink:NamedThing			mondoexuq1wtf																														
DOID:3930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87065009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850316	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007637	biolink:NamedThing			mondoexuq1wtf																														
DOID:3305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53432004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134157002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98127	biolink:NamedThing			mondoexuq1wtf																														
DOID:4906	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868682	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41720003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1724	biolink:NamedThing			mondoexuq1wtf																														
DOID:10616	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111391	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400951005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114290	biolink:NamedThing			mondoexuq1wtf																														
DOID:14176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26930	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050616	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399968001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266248006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536046	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015458	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604290	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018287	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162671	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703634007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044905	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110191	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0019894	biolink:NamedThing	obsolete non-distal monosomy 7p		mondoexuq1wtf	non-distal monosomy type 7p|non-distal deletion 7p|non-telomeric monosomy 7p					Obsolete in Orphanet	MONDO:0016889			True		ICD10:Q93.5|Orphanet:96136																		owl:Class
ORPHA:96136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0241913	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537571	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229070	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156450004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012810	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92555	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83015004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:667	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:172976	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191654006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34470	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20944008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2307	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3046	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191129007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18643000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134334000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278200	biolink:NamedThing			mondoexuq1wtf																														
DOID:5502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1612004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197662008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263534	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431406	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23685000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367721002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447882007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273897	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876172	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8187	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26845	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565991	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2286	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN484737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54569005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675527	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128749008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842465	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201128002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4637005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58777003	biolink:NamedThing			mondoexuq1wtf																														
DOID:4847	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537619	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3054	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720521008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598744	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156273009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0876926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720812002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115665000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88232005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856830	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:288197007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3057	biolink:NamedThing			mondoexuq1wtf																														
DOID:1931	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305146	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333160	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93425	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1433	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72052003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539896	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238829001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280154	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111773	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4012050	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179850	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8190	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26725	biolink:NamedThing			mondoexuq1wtf																														
MESH:D025242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28259009	biolink:NamedThing			mondoexuq1wtf																														
DOID:8167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:41	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193958004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6203	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602398	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1465	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004605	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565917	biolink:NamedThing			mondoexuq1wtf																														
DOID:5570	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020615	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26863	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN282828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193499001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253063006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78453009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293707	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7574	biolink:NamedThing			mondoexuq1wtf																														
DOID:6605	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537333	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99946	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109989006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536455	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008992	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070070	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265669	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:334	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237633	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748997	biolink:NamedThing			mondoexuq1wtf																														
DOID:8634	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062804	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13003007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5436	biolink:NamedThing			mondoexuq1wtf																														
DOID:7997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719140001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84090	biolink:NamedThing			mondoexuq1wtf																														
DOID:11249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403904009	biolink:NamedThing			mondoexuq1wtf																														
DOID:6052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230533001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720814001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1418603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280381	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004165	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600649	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271432005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270889005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842382	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008175	biolink:NamedThing			mondoexuq1wtf																														
DOID:6491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050261	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166412	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566392	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566381	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26703	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277656005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116917	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519172	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197602005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2139	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0045029	biolink:NamedThing	obsolete Deuteromycetes infectious disease		mondoexuq1wtf	infection caused by Deuteromycetes|infection by Deuteromycetes						MONDO:0002041			True		SCTID:59258008																		owl:Class
SNOMEDCT:59258008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312403005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54711002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752041	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:758	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2212006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565115	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2826177	biolink:NamedThing			mondoexuq1wtf																														
DOID:1988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205151006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026817	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3462	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217632	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187609003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1809471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313884	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050698	biolink:NamedThing			mondoexuq1wtf																														
DOID:3240	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044766	biolink:NamedThing	obsolete Marfan Syndrome 3		mondoexuq1wtf	Marfan syndrome type 3|MFS 3									True		GTR:AN0100578|GTR:AN0100577|UMLS:CN035813																		owl:Class
UMLS:CN035813	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251589	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060233	biolink:NamedThing			mondoexuq1wtf																														
DOID:12070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3697119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0877388	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3752	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124239003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014408	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764694005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:55596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615436	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28835009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111689	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42402006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:25	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194201001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197458008	biolink:NamedThing			mondoexuq1wtf																														
DOID:7214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200289	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610508	biolink:NamedThing			mondoexuq1wtf																														
DOID:1907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33067	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44572005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189941000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4323	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40959	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15628003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002991	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722377004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399912005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56882008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036205	biolink:NamedThing			mondoexuq1wtf																														
DOID:12197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715391004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698247007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371047	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247199007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265987	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:803	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122657	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612759	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457279	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2945695	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87153008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409999	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420789	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50	biolink:NamedThing			mondoexuq1wtf																														
DOID:9971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191860009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201241	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CL448335	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75320001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271287	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537230	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050872	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364063	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233908008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864498	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723309006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2079540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004998	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110156	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724837004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN074295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420699	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44666001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732928005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334473	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105600002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611771	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675551	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26409005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:506090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614458	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2442	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721226005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020376	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056889	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446449009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5585	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054747	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38362002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617119	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300143	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608279	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN757793	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612522	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023467	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015499	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763277009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51442005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92756002	biolink:NamedThing			mondoexuq1wtf																														
DOID:2738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236772009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:317349009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194690003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65471002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10069009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281702006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085584	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266307005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033664	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191600009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237940008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562644	biolink:NamedThing			mondoexuq1wtf																														
DOID:3781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84910	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536625	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12246008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16596007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194277003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040761	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187796007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1367861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703530005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194530007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018500	biolink:NamedThing			mondoexuq1wtf																														
DOID:5677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809567	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519184	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190933008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216360	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97297	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602594	biolink:NamedThing			mondoexuq1wtf																														
DOID:1319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232297009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4024960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92259008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1370504	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:655	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726402006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23360000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931439	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268745002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198230004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6050	biolink:NamedThing			mondoexuq1wtf																														
DOID:1825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304512	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139507	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60782007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110844	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748552	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:30	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201248003	biolink:NamedThing			mondoexuq1wtf																														
DOID:14177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419197009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192953000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538340	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060831	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017282	biolink:NamedThing			mondoexuq1wtf																														
DOID:13096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61251	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618625	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39111003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1812609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193594009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93980002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719808002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2819	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91934008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193839007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110640	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852759	biolink:NamedThing			mondoexuq1wtf																														
DOID:4777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128854008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4607	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536580	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717632002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110980006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265916	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192004002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7566	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197464	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265309	biolink:NamedThing			mondoexuq1wtf																														
DOID:1106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266291001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203254	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567422	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614293	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010760	biolink:NamedThing			mondoexuq1wtf																														
DOID:1895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156440000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64612002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386211005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399068003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606348	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90560007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150921	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931618	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719251009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155253	biolink:NamedThing			mondoexuq1wtf																														
DOID:6501	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34666	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192952005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269582000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C62590	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156028007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30330001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019189	biolink:NamedThing			mondoexuq1wtf																														
DOID:3752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C71719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205329008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196354003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011289	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019088	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0748473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726341009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13980006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719815005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1956	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44524009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675484	biolink:NamedThing			mondoexuq1wtf																														
DOID:5236	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310779	biolink:NamedThing			mondoexuq1wtf																														
DOID:5746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1389018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155014006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601412	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:834	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564701	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060693	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158538	biolink:NamedThing			mondoexuq1wtf																														
DOID:14725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034951	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565956	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539851	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50654	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:394532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238378	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399894006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536	biolink:NamedThing			mondoexuq1wtf																														
DOID:7320	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254923001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796184	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71281	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237649006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236680	biolink:NamedThing			mondoexuq1wtf																														
DOID:14130	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85196	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704328	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:801	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156069003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196508008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17885001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334368	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618456	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234102003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128898008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751772	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446643000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93817006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537342	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044267	biolink:NamedThing	obsolete gcy		mondoexuq1wtf	tooth size|stature|growth control, Y-chromosome influenced|GCY					Obsoleted as it represents a trait or is a legacy entry				True		HGNC:4211																		owl:Class
UMLS:C1868676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367105000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733521003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193100000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/240400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265430	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1957	biolink:NamedThing			mondoexuq1wtf																														
DOID:10034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63491006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839566	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334662	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78737005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268654	biolink:NamedThing			mondoexuq1wtf																														
DOID:262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5900006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4392	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6452009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563675	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566988	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050290	biolink:NamedThing			mondoexuq1wtf																														
DOID:323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441971007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2968	biolink:NamedThing			mondoexuq1wtf																														
DOID:11472	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN232116	biolink:NamedThing			mondoexuq1wtf																														
DOID:9140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715754007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36046	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861276	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566529	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332867	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN236629	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367538001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156331003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99892	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280094	biolink:NamedThing			mondoexuq1wtf																														
DOID:4302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254705003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719684000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036421	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29774004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266182006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707310009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537976	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123245	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008747	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/114580	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:290842	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55355000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93870000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C28155	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302895007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83264000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192406007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153477	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566703	biolink:NamedThing			mondoexuq1wtf																														
DOID:4053	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114770	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205418	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565691	biolink:NamedThing			mondoexuq1wtf																														
DOID:10718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190788003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92473001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178900	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76060004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763631006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33806008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125390	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027034	biolink:NamedThing			mondoexuq1wtf																														
DOID:5725	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154786001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723624008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398523009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4976	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279984	biolink:NamedThing			mondoexuq1wtf																														
DOID:3302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606367	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254179000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60672	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005779	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109842005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/278730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335975	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562704	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764440006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764812008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154486000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602093	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20721001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866717	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268878003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1021	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763622006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840390	biolink:NamedThing			mondoexuq1wtf																														
DOID:5806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155815006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162260	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70835005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536830	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060368	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186672003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5507002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3838758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305134	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563562	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715645004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150649	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266279005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003668	biolink:NamedThing			mondoexuq1wtf																														
DOID:5917	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155025002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010518	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8635005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2272	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74390002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN219009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386808001	biolink:NamedThing			mondoexuq1wtf																														
DOID:2303	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001716	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93860002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196911004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030809	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718911005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48982009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602114	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201196009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234585008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187504004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060605	biolink:NamedThing			mondoexuq1wtf																														
DOID:9042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79258	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846609	biolink:NamedThing			mondoexuq1wtf																														
DOID:11181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197897007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023882	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567757	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050741	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018413	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95448	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C88411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99965	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239796000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78246	biolink:NamedThing			mondoexuq1wtf																														
UBERON:0018144	biolink:NamedThing			mondoexuq1wtf																														owl:Class
UMLS:C1334264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615529	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607508	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190519004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23894009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619248	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860806	biolink:NamedThing			mondoexuq1wtf																														
DOID:1737	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277604002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857209	biolink:NamedThing			mondoexuq1wtf																														
DOID:5343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702362004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764697003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023348	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116396	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191256002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061992	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN787270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265857	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3853779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616794	biolink:NamedThing			mondoexuq1wtf																														
DOID:11080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190303007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85670002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198259004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617924	biolink:NamedThing			mondoexuq1wtf																														
DOID:10992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704228	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007153	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080067	biolink:NamedThing			mondoexuq1wtf																														
DOID:117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295193	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201073	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245010	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080102	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050591	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2848	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193805008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35803	biolink:NamedThing			mondoexuq1wtf																														
DOID:7765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397829000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2720289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715963002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489626	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060448	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564026	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400178008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200572	biolink:NamedThing			mondoexuq1wtf																														
DOID:784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201425	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195061003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535730	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013586	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189241005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266150	biolink:NamedThing			mondoexuq1wtf																														
DOID:3418	biolink:NamedThing			mondoexuq1wtf																														
DOID:845	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304022	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194193002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141091	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102000	biolink:NamedThing			mondoexuq1wtf																														
DOID:7188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154745008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444691002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267721003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207023	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536359	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002602	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363405009	biolink:NamedThing			mondoexuq1wtf																														
DOID:13622	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8990	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858032	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3410	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200892	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198551002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27302	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79094	biolink:NamedThing			mondoexuq1wtf																														
DOID:7516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199294	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014536	biolink:NamedThing			mondoexuq1wtf																														
DOID:11727	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:88659	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191462009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930982	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26749	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4391	biolink:NamedThing			mondoexuq1wtf																														
DOID:6996	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:281560004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268446	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868311	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89488007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0442874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69550000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564982	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267857003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194350005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61860000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255995	biolink:NamedThing			mondoexuq1wtf																														
DOID:12801	biolink:NamedThing			mondoexuq1wtf																														
DOID:15	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191208008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4760583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715674008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36656008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056684	biolink:NamedThing			mondoexuq1wtf																														
DOID:2678	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3609	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220748	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363480001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111514006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749279	biolink:NamedThing			mondoexuq1wtf																														
DOID:11629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510411	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194323000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259785	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056420	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1739100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080122	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333157	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110603	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:162521	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748754	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538178	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84786	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080591	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111897007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3805373	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110832	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207292	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707407001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225171	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764628000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865699	biolink:NamedThing			mondoexuq1wtf																														
DOID:0001816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74612003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37206003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535812	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837822	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:434179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2575	biolink:NamedThing			mondoexuq1wtf																														
DOID:11148	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38937	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060875	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796045	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6965	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005352	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612789	biolink:NamedThing			mondoexuq1wtf																														
DOID:4675	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191226006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8118	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231419	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005921	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124449003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539120	biolink:NamedThing			mondoexuq1wtf																														
DOID:6179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50485007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1697	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0585946	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195973000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020031	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553606	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931066	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84627	biolink:NamedThing			mondoexuq1wtf																														
DOID:14256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601216	biolink:NamedThing			mondoexuq1wtf																														
DOID:1035	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154588002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210163	biolink:NamedThing			mondoexuq1wtf																														
DOID:14223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431119	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118420	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018179	biolink:NamedThing			mondoexuq1wtf																														
DOID:10209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314790	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850671	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187806007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111527005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111101	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110758	biolink:NamedThing			mondoexuq1wtf																														
DOID:4210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722051004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614332	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242860	biolink:NamedThing			mondoexuq1wtf																														
DOID:7958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40158001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188320007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609909	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566811	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37102008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278664	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070199	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854061	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187471008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324761	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:877	biolink:NamedThing			mondoexuq1wtf																														
DOID:9173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98518	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613829	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74050005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155412002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5561	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846343	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1513711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0580190	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193567005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39621005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505216	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080214	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564923	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4646	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675683	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538268	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152458	biolink:NamedThing			mondoexuq1wtf																														
MESH:D050336	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006938	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600975	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277878001	biolink:NamedThing			mondoexuq1wtf																														
DOID:8137	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269458007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3542026	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4966	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749021	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35113	biolink:NamedThing			mondoexuq1wtf																														
DOID:9455	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605229	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565735	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564944	biolink:NamedThing			mondoexuq1wtf																														
DOID:9835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1420015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150654	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3171	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080585	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723824005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125698	biolink:NamedThing			mondoexuq1wtf																														
DOID:5798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31838005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070294	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206118	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675861	biolink:NamedThing			mondoexuq1wtf																														
DOID:8195	biolink:NamedThing			mondoexuq1wtf																														
DOID:10398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190715008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612378	biolink:NamedThing			mondoexuq1wtf																														
DOID:4080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319195	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050739	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024314	biolink:NamedThing			mondoexuq1wtf																														
DOID:9698	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:102447009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617572	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604377	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60970005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27076	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:495274	biolink:NamedThing			mondoexuq1wtf																														
DOID:310	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96540	biolink:NamedThing			mondoexuq1wtf																														
DOID:2913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853104	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0243000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257800	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015555	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1979	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014201	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94830	biolink:NamedThing			mondoexuq1wtf																														
DOID:424	biolink:NamedThing			mondoexuq1wtf																														
DOID:630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056667	biolink:NamedThing			mondoexuq1wtf																														
DOID:12799	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:418959	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1956413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304577	biolink:NamedThing			mondoexuq1wtf																														
MESH:C549759	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420226006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618947	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563430	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188152004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720565000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276729007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197575000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518870	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050801	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5464005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733519008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98203	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90151006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409998	biolink:NamedThing			mondoexuq1wtf																														
DOID:6332	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33377007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188200009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618870	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14637005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1535939	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:131103005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930930	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860119	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535552	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616517	biolink:NamedThing			mondoexuq1wtf																														
DOID:4653	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009443	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000803	biolink:NamedThing	obsolete tiger prawn allergy	A allergy involving a Penaeus monodon.	mondoexuq1wtf	Penaeus monodon allergic disease|allergy of Penaeus monodon|Penaeus monodon caused allergic disease|Penaeus monodon allergy	MONDO:outOfScope								True		DOID:0060528														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060528	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40177004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23067006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254950006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267718000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4467	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34842	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203938	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237956003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225184	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007979	biolink:NamedThing			mondoexuq1wtf																														
DOID:7480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676275	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009193	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62235007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195352009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050667	biolink:NamedThing			mondoexuq1wtf																														
DOID:6691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1279621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154791000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154693009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24043009	biolink:NamedThing			mondoexuq1wtf																														
DOID:14435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21968007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186533008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27080	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033138	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:429753001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251365	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566588	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862082	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721822004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95871	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009471	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853360	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749509	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002372	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563906	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295177	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068842	biolink:NamedThing			mondoexuq1wtf																														
DOID:1607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3274137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11793003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611134	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93558	biolink:NamedThing			mondoexuq1wtf																														
DOID:6970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268232000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014342	biolink:NamedThing			mondoexuq1wtf																														
DOID:10176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199968003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268621008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5678	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155967009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6906	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237532008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310786	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66301008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230429005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611302	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397355008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1608389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404014008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704272	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204089009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745997	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175702	biolink:NamedThing			mondoexuq1wtf																														
DOID:7081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834712	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614669	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234484005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333466	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1688637	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151470	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080335	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608627	biolink:NamedThing			mondoexuq1wtf																														
DOID:341	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43077002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2221008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302380	biolink:NamedThing			mondoexuq1wtf																														
DOID:127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017567	biolink:NamedThing			mondoexuq1wtf																														
DOID:6407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848599	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080262	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95506	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036221	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006554	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:511008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62999006	biolink:NamedThing			mondoexuq1wtf																														
DOID:1969	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51292008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96123	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:353295004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042961	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537928	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019966	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240637006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124718009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554321	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363397008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304990002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449421003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510417	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111498005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677771	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/158900	biolink:NamedThing			mondoexuq1wtf																														
DOID:11793	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1443901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254943007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154528000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68226007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015674	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84452004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207018	biolink:NamedThing			mondoexuq1wtf																														
DOID:6481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275416002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849732	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193441002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708672004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606799	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363358000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3168	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060426	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194789002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196113000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110110	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314811	biolink:NamedThing			mondoexuq1wtf																														
DOID:8339	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048397	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2956	biolink:NamedThing			mondoexuq1wtf																														
DOID:3052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034686	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600634	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111299	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97338	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276828006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191782007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2831	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195891009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230456007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310683	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230187000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23260002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721976003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27394	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050867	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070338	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216812	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239087008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520571	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012509	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155887006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448674007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86157004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38609002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155766	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050046	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613652	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92539008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191077005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563940	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5279	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267941	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609755	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080273	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40101	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1168225	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050485	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:535458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1212005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155729003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796204	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14009004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235914003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205637	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764850002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4783	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205772	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268748	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763274002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153244	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59925007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162674	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833676	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/520000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1636	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613765	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40170	biolink:NamedThing			mondoexuq1wtf																														
DOID:6386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34742	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3621006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535523	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393582003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538293	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302919001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205707	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26039008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270968	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30911005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1300229	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155955007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026883	biolink:NamedThing			mondoexuq1wtf																														
DOID:1098	biolink:NamedThing			mondoexuq1wtf																														
DOID:1222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2014	biolink:NamedThing			mondoexuq1wtf																														
DOID:14043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254821003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24308003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54307006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30174008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98766	biolink:NamedThing			mondoexuq1wtf																														
DOID:6777	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238506	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611094	biolink:NamedThing			mondoexuq1wtf																														
DOID:9003731	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194756002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5235004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448233000	biolink:NamedThing			mondoexuq1wtf																														
DOID:5521	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191252000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1078	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59013007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055652	biolink:NamedThing			mondoexuq1wtf																														
DOID:13760	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18273004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857451	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609570008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619053	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110085	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4282032	biolink:NamedThing			mondoexuq1wtf																														
DOID:13094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6911	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205358006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221027	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1937	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536549	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404037002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235665008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930929	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1345	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237789005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274788	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190627001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614221	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/500015	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236536000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2986655	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535624	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193886006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836326	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563487	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111909004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/223540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857820	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725291001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95776004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205257004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92027006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66986005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005747	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720506002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157823	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C133744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126868	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201880	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10004213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748587	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853396	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193285002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335302	biolink:NamedThing			mondoexuq1wtf																														
DOID:6686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8988	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289098	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080599	biolink:NamedThing			mondoexuq1wtf																														
DOID:8170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0745242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367437009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37770007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5725006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181270	biolink:NamedThing			mondoexuq1wtf																														
DOID:11830	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0396023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0861859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724344004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186539007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718720007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3872848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267820009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239016009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067609	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62005008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110519	biolink:NamedThing			mondoexuq1wtf																														
DOID:12969	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616511	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308380	biolink:NamedThing			mondoexuq1wtf																														
DOID:6474	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016104	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96106	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123845008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110717	biolink:NamedThing			mondoexuq1wtf																														
DOID:3002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20392000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334069	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863925	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849333	biolink:NamedThing			mondoexuq1wtf																														
DOID:4217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49049000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231393	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428437005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:264256006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080521	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92780	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:62	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:970	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618261	biolink:NamedThing			mondoexuq1wtf																														
DOID:10487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254206003	biolink:NamedThing			mondoexuq1wtf																														
DOID:12506	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189642005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128717008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370469003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2893	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3943	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615528	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190911006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:459063003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748536	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182255	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479618	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193979004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614748	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565502	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080332	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35271	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154857	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479652	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190981001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602579	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618612	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861515	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1296	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187347000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88032003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123062004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841836	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702367005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566692	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043167	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8326008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238700008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1510502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930803	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197869001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410039003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27503	biolink:NamedThing			mondoexuq1wtf																														
DOID:4830	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4749019	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565201	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563491	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006333	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111632	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566598	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836916	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390720006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16541001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11282001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348890	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154815003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325511	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449072004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022079	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537605	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537548	biolink:NamedThing			mondoexuq1wtf																														
DOID:4739	biolink:NamedThing			mondoexuq1wtf																														
DOID:3137	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2707005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1561989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266306001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/127400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449829009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92088003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853099	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334699	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060543	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612089	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2235	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95532008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/190351	biolink:NamedThing			mondoexuq1wtf																														
DOID:13549	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155986001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616680	biolink:NamedThing			mondoexuq1wtf																														
DOID:9584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211237	biolink:NamedThing			mondoexuq1wtf																														
DOID:10843	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565748	biolink:NamedThing			mondoexuq1wtf																														
DOID:7460	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154792007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854237	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314580	biolink:NamedThing			mondoexuq1wtf																														
DOID:2645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186514003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193413001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716585008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565868	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566666	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15296000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126900000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766818009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9395006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604901	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126865	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65539006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157754004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862534	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:141458004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842485	biolink:NamedThing			mondoexuq1wtf																														
DOID:8515	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/263750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123172	biolink:NamedThing			mondoexuq1wtf																														
DOID:1930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84849002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1328544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189917003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191416001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619146	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4016741	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226730	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887596	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564769	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10029400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93399	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537371	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616220	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562745	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566583	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537904	biolink:NamedThing			mondoexuq1wtf																														
DOID:12904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166272	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27183	biolink:NamedThing			mondoexuq1wtf																														
DOID:8428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0456487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028796	biolink:NamedThing			mondoexuq1wtf																														
DOID:11712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538392	biolink:NamedThing			mondoexuq1wtf																														
DOID:4291	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31354001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675486	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157159001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9660004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677362	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156011009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702349003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155515	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536016	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0858617	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050755	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861678	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835818	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564486	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46683007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84563	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201048007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154011	biolink:NamedThing			mondoexuq1wtf																														
DOID:1172	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187794005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702397002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39864	biolink:NamedThing			mondoexuq1wtf																														
DOID:9011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262019	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254251003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200968	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209905	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836315	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0586989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722439009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310661	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562722	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5124002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190453002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111614	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40288	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93610	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57607007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240169001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304531	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030583	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518355	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6162	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052642	biolink:NamedThing			mondoexuq1wtf																														
DOID:11258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:457265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3152055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153832	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98761	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202834	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112190	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443265004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193053006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538208	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129975	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282192	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192400001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110113	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4893	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398063	biolink:NamedThing			mondoexuq1wtf																														
DOID:14423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750442	biolink:NamedThing			mondoexuq1wtf																														
DOID:5379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59606006	biolink:NamedThing			mondoexuq1wtf																														
DOID:7166	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048017	biolink:NamedThing			mondoexuq1wtf																														
DOID:5749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45517002	biolink:NamedThing			mondoexuq1wtf																														
DOID:1901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194841001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203393	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204302009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99107	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080136	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN184630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128239009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191483003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98895	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009140	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193807000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314240	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004313	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474334	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193582000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76043009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613955	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254602009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857942	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565710	biolink:NamedThing			mondoexuq1wtf																														
MESH:D051359	biolink:NamedThing			mondoexuq1wtf																														
DOID:952	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080258	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010899	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205473008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008375	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193161004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187642002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852200	biolink:NamedThing			mondoexuq1wtf																														
DOID:4524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24072005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257877	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2771	biolink:NamedThing			mondoexuq1wtf																														
DOID:10435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:432504007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611376	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226914	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193549003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567815	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702441001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619046	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:450322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128686000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553709	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235703009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842028	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27466	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862389	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009265	biolink:NamedThing			mondoexuq1wtf																														
DOID:9504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110554	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253028001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187878009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535283	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0878684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399380	biolink:NamedThing			mondoexuq1wtf																														
DOID:6700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5710006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN651335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8214000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006505	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4327	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611091	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002288	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010078	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248785	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:632	biolink:NamedThing			mondoexuq1wtf																														
DOID:4860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796037	biolink:NamedThing			mondoexuq1wtf																														
DOID:12842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101954	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139402	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1368918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720639008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4273	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:318761000119105	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN703737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204850	biolink:NamedThing			mondoexuq1wtf																														
DOID:11717	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65457005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715733000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23686004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15176003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38666007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128770002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615382	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859817	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130010	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604431	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266508004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98943	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029594	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63954007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319623	biolink:NamedThing			mondoexuq1wtf																														
DOID:12698	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239095007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447781009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197365	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34802	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562733	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7085	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7153	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86470003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233430	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125480	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548086	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373436002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238525	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841721	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:298	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6141006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004775	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4369	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562442	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265480	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050989	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155137002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186670006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226194	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187320005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193266000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721009008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21061004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123728	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40314	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609815	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405501007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310791	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335422	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68363	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230297002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151265	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836032	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128525008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537919	biolink:NamedThing			mondoexuq1wtf																														
MESH:D030341	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238033	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050752	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5441	biolink:NamedThing			mondoexuq1wtf																														
DOID:11077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50797007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39629007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524524	biolink:NamedThing			mondoexuq1wtf																														
DOID:1564	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050642	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715707008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717185008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1186	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617143	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733454004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280065	biolink:NamedThing			mondoexuq1wtf																														
DOID:4288	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253076000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4731	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91387	biolink:NamedThing			mondoexuq1wtf																														
DOID:12098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196535004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600116	biolink:NamedThing			mondoexuq1wtf																														
DOID:6259	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359554008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85165	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080595	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564352	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333148	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124846	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333467	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304673	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314560	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83799000	biolink:NamedThing			mondoexuq1wtf																														
DOID:12097	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251636	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015494	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227596	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238004006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861044	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79299	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564342	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536795	biolink:NamedThing			mondoexuq1wtf																														
DOID:7371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130988	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617405	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0747256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98544	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887939	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614808	biolink:NamedThing			mondoexuq1wtf																														
DOID:9939	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2746068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564840	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4281559	biolink:NamedThing			mondoexuq1wtf																														
DOID:5784	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012751	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702417004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1382026	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:368	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3023	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007018	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:372101000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616366	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85280	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109393007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855902	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39836	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189792003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20505009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56364004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191736004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/121210	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003428	biolink:NamedThing			mondoexuq1wtf																														
DOID:5178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36921006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751039	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157014007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154807001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13213009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060677	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97252	biolink:NamedThing			mondoexuq1wtf																														
DOID:5831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227120	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859148	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050680	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64540004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203514	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127069007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008575	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95840007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206304	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863012	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280452	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230576004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060204	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/161700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003851	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518537	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003859	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536402	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202791007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334279	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75011	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99135	biolink:NamedThing			mondoexuq1wtf																														
DOID:11195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720496006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71212	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9014002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:445038	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4023	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93889000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765741003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254424	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128206006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18018005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233666007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537409	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99028	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155415000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90390	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110825	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7068	biolink:NamedThing			mondoexuq1wtf																														
DOID:3252	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66071002	biolink:NamedThing			mondoexuq1wtf																														
DOID:903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332561	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564271	biolink:NamedThing			mondoexuq1wtf																														
DOID:12668	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31824	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479250	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766983005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360381004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011649	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111166	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7255004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540164	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98798	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725136003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352763	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613704	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300354	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041228	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199633	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195429006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128134005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254831005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610680	biolink:NamedThing			mondoexuq1wtf																														
DOID:7441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266162007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275421	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5776	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93832004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201495	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3489724	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101091	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016657	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268243	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268525	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:26348	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0549471	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150857	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193631008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763891005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0333693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265218	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732252005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206534	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204202	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618094	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253368008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011881	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855057	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043461	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029668	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110384	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846057	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722452004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42295001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58610003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6759	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060461	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19161004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310785	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050885	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234633000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071757	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011502	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835928	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536988	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931740	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674049	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014135	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607330	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336888	biolink:NamedThing			mondoexuq1wtf																														
MESH:D063371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39874	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129870	biolink:NamedThing			mondoexuq1wtf																														
DOID:10997	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6186	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080567	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766980008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189947001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52845002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0919524	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6142004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837640	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531684	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10066022	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129022	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006852	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603373	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111738	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535855	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562839	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050168	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192868000	biolink:NamedThing			mondoexuq1wtf																														
DOID:10587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265898	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766817004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398127	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538103	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10406007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269553001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154026	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110543	biolink:NamedThing			mondoexuq1wtf																														
DOID:11036	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95320005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237713	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192639003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:432241000124101	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2355576	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D055496	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275729	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333174	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000844	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3677	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360495000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182090	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10045855	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3434	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662272	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231214	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192475007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227337	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24604009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:411543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859527	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733450008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187688008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310686	biolink:NamedThing			mondoexuq1wtf																														
DOID:13787	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4673	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699356008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13175	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275872	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151184	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862292	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061591	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:226316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398264003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2058001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233646003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188275003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4977000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676721	biolink:NamedThing			mondoexuq1wtf																														
MESH:D044903	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/203290	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236792	biolink:NamedThing			mondoexuq1wtf																														
DOID:161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:695751021000132104	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537026	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189945009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750979	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536759	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178315	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056433	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618655	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060717	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101029	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124199009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114451	biolink:NamedThing			mondoexuq1wtf																														
DOID:14269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333969	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50812	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155329000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40467008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0234512	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859753	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21007002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155725	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007124	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:242	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:420702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2350233	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126489007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111589	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:223735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271463009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188734009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016089	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34410	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98252	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008069	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:301770000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040132	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75315001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618131	biolink:NamedThing			mondoexuq1wtf																														
DOID:8912	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74578003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154326002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239241	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171607	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225374	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418946006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276829003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231532002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154748	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226911	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608392	biolink:NamedThing			mondoexuq1wtf																														
DOID:8133	biolink:NamedThing			mondoexuq1wtf																														
DOID:4555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842109	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309585	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035204	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66628	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612712	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0300934	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549486	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207536007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715565004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118933004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209024	biolink:NamedThing			mondoexuq1wtf																														
DOID:7994	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:412217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154704000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236750	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032231	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011638	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537448	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237895001	biolink:NamedThing			mondoexuq1wtf																														
DOID:3615	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186634008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352333	biolink:NamedThing			mondoexuq1wtf																														
DOID:1572	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538116	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008052	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213828	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8979	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275217	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6452	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74739000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310789	biolink:NamedThing			mondoexuq1wtf																														
DOID:3663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268414	biolink:NamedThing			mondoexuq1wtf																														
DOID:3825	biolink:NamedThing			mondoexuq1wtf																														
DOID:4587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126869	biolink:NamedThing			mondoexuq1wtf																														
DOID:4952	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110335	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719836007	biolink:NamedThing			mondoexuq1wtf																														
DOID:8639	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110366	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3171005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393459	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/314380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614881	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0302359	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7135	biolink:NamedThing			mondoexuq1wtf																														
DOID:5826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233970002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11102	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79140	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153014	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184100	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535880	biolink:NamedThing			mondoexuq1wtf																														
DOID:9550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278153	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835932	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340100	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153200	biolink:NamedThing			mondoexuq1wtf																														
DOID:11599	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020863	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205697	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562386	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838121	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92772005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66056001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166277	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567240	biolink:NamedThing			mondoexuq1wtf																														
DOID:8009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510379	biolink:NamedThing			mondoexuq1wtf																														
DOID:6567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3694279	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721188000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270715	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810380	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94120006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289832	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060380	biolink:NamedThing			mondoexuq1wtf																														
DOID:3764	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342544	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27741009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237665	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN037257	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110373	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C169001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:37748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0399368	biolink:NamedThing			mondoexuq1wtf																														
DOID:11547	biolink:NamedThing			mondoexuq1wtf																														
DOID:3527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41889008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268497	biolink:NamedThing			mondoexuq1wtf																														
DOID:10326	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615524	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188989000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32110003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92812005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:427	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163982	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94075	biolink:NamedThing			mondoexuq1wtf																														
DOID:11126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702354007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565133	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432126	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72608005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54587008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233450	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3276228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236818008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19437001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189687009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198255005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060287	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90642	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35807	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537734	biolink:NamedThing			mondoexuq1wtf																														
DOID:5503	biolink:NamedThing			mondoexuq1wtf																														
DOID:13407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402599005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92297008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79405	biolink:NamedThing			mondoexuq1wtf																														
DOID:12253	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26813	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531735	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240685007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158673	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8114	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:563708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0936282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334246	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:638	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134342004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007103	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27558	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66990007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13449007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129974	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447643008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188186008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85761009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110760	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538159	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158304	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:241954008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717333002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226924	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019461	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610489	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8011	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198148002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155911001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566902	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615413	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193061	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008118	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190796008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936911	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837873	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:562509	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613877	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203529005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612201	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009190	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156171	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4877	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715905006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77870005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402721001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617712	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34518	biolink:NamedThing			mondoexuq1wtf																														
DOID:2660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363178003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95670000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98961	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42048	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188361007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58833000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612313	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52464003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213820	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024189	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565808	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887557	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002736	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001361	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851734	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237533003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64741	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1653	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84602	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007414	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359964007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717012004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204298001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:732954002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527226	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719575008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77157004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254843006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243440	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4043	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677608	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531613	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535688	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029438	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189681005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155548002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295038	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187364002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2718304	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563760	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845052	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718107000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766884000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860604	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111309	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565869	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128708008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725027004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123799005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844654	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110336	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614081	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432225	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563720	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675609	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537109	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054868	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226129	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:570	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851905	biolink:NamedThing			mondoexuq1wtf																														
DOID:3948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060893	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277879009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15069006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:396232000	biolink:NamedThing			mondoexuq1wtf																														
OBO:mondo#MISSPELLING	biolink:NamedThing	A synonym that is recorded for consistency with another source but is a misspelling		mondoexuq1wtf																														owl:AnnotationProperty
http://identifiers.org/omim/616852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849779	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238062008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95440004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6857	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300661	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111502003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2732267	biolink:NamedThing			mondoexuq1wtf																														
DOID:7708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399903008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040798	biolink:NamedThing			mondoexuq1wtf																														
DOID:6148	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/167500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3850067	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236403004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262659	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:305719002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020788	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13280000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003504	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538203	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719663005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194046007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111031	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230247001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039981	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84550	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511207	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206463003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3895	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/273120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156915002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64852002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7806	biolink:NamedThing			mondoexuq1wtf																														
DOID:7972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554689	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335308	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131659	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34676	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363246002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194923008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110325	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97555	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566022	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399364006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538346	biolink:NamedThing			mondoexuq1wtf																														
DOID:4235	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86448001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112683004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8715	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84773	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/489000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110446	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74576004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200696002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1276127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197551000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838218	biolink:NamedThing			mondoexuq1wtf																														
DOID:11262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48619006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111580	biolink:NamedThing			mondoexuq1wtf																														
DOID:3011	biolink:NamedThing			mondoexuq1wtf																														
DOID:7461	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:279943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271051	biolink:NamedThing			mondoexuq1wtf																														
DOID:11581	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128792003	biolink:NamedThing			mondoexuq1wtf																														
DOID:8937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96485	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070179	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6994	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82835005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614676	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16652001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018213	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838256	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060179	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068739	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036749	biolink:NamedThing			mondoexuq1wtf																														
DOID:5747	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003121	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237653008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606346	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186481004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615917	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612410	biolink:NamedThing			mondoexuq1wtf																														
DOID:8861	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188718006	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034606	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237438	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10008734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1086871000119109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416824008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233954004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1455735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254160003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427186000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9377	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228903	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014947	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334705	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:557064	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837341	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363412000	biolink:NamedThing			mondoexuq1wtf																														
DOID:918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1424914	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55937004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153478	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0151650	biolink:NamedThing			mondoexuq1wtf																														
DOID:10915	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41888000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406217	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154891	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750509	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98587	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39987	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763658004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842237	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6461	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003877	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853925	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156610	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200725	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948749	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207418	biolink:NamedThing			mondoexuq1wtf																														
DOID:5263	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202183	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3948	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253220	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155804	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060321	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4273742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360504006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:52688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10091002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274223	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080217	biolink:NamedThing			mondoexuq1wtf																														
DOID:4370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58405006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155673	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:334621009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53481002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35061	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1800706	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274205	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855715	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064583	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335690	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253878003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/192000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536677	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014496	biolink:NamedThing			mondoexuq1wtf																														
DOID:7903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017923	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535967	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46263000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6808	biolink:NamedThing			mondoexuq1wtf																														
DOID:4090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128783001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562829	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269633006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459787	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537991	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110376	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95531001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7368005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601616	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129074	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65363002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225242	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707221002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27241	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602087	biolink:NamedThing			mondoexuq1wtf																														
DOID:8225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18842008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3892039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515292	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111409009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562718	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718752007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D028921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553915	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5198	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114933	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612691	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98085	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262633	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154808006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011859	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22149007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553840	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566068	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191507002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110467	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265308	biolink:NamedThing			mondoexuq1wtf																														
DOID:13081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3389	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99169	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188595005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:400008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237055002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255140	biolink:NamedThing			mondoexuq1wtf																														
DOID:780	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060279	biolink:NamedThing			mondoexuq1wtf																														
DOID:3720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92126004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565809	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69015003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720831008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195594006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164750	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10051526	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247638	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67873006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3018	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563885	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267493006	biolink:NamedThing			mondoexuq1wtf																														
DOID:5631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409711008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751173	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536365	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1855	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237683004	biolink:NamedThing			mondoexuq1wtf																														
DOID:12118	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397825006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766050000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537030	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861391	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855928	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339826	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266148000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:430725003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307816004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406561	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238418005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186183008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40929003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25821008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024141	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155774005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156413000	biolink:NamedThing			mondoexuq1wtf																														
DOID:3303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400208002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537858	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7414	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91491	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169150	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616221	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201644	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060140	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85436	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035021	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59026006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187511000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151380	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563914	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068494	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:663	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190250001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN852731	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535384	biolink:NamedThing			mondoexuq1wtf																														
DOID:10442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7265005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101351	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402815007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795816	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264743	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750887	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724000006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080515	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124224004	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064387	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857473	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010144	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154548007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59229005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603323	biolink:NamedThing			mondoexuq1wtf																														
DOID:9123	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4720	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516420	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49420001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266172005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403968005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:78	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193758008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304502	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723501008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155110004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9338	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/160700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254902	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615768	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564888	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154325003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340305	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35394	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195433004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153940	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204085	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86813	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:731	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262758	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/185300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565337	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010495	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C60780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849114	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79093	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006398	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612952	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564633	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206186	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81564005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0376545	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3484357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435819	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196072000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614294	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10059364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9707006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92557009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195182007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314451	biolink:NamedThing			mondoexuq1wtf																														
DOID:4971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707792000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614104	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060106	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609583	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24868007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360339005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536773	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3697269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931346	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155582	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92298003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114389	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3108	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225060	biolink:NamedThing			mondoexuq1wtf																														
DOID:8858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254839007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537149	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/140400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233692000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601537	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005886	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612623	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187545007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303988	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064170	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C137957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335355	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538022	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193076	biolink:NamedThing			mondoexuq1wtf																														
DOID:13501	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280314	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188753004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536852	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849649	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205270	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:848	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399076001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98995	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279681	biolink:NamedThing			mondoexuq1wtf																														
DOID:4024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4442	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98667	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603546	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93616	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614749	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26810009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254812004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:315350	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155430	biolink:NamedThing			mondoexuq1wtf																														
DOID:8529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41659003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:900000000000452009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/202355	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613215	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070176	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61462000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155747	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204104003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2985219	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763351003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533628	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751872	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720410001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1752006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836517	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017240	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562551	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71298006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300489	biolink:NamedThing			mondoexuq1wtf																														
DOID:9317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3421	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423984004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54552008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79238	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205546005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037944	biolink:NamedThing			mondoexuq1wtf																														
DOID:4895	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1810	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71941009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155912	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614180	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187716008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567750	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040774	biolink:NamedThing			mondoexuq1wtf																														
DOID:775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795959	biolink:NamedThing			mondoexuq1wtf																														
DOID:8109	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128862000	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10083939	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080117	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238935002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98583	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716239006	biolink:NamedThing			mondoexuq1wtf																														
DOID:8193	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111584	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93568	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252190	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617898	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188249002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205834002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28960008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719378009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270911	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846839	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41890004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300803	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266652001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188153009	biolink:NamedThing			mondoexuq1wtf																														
DOID:7959	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266175	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186108001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5568	biolink:NamedThing			mondoexuq1wtf																														
DOID:9531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280205	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013203	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013280	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1515303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853578	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274901004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018191	biolink:NamedThing			mondoexuq1wtf																														
DOID:9974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191014008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032489	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536781	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4951	biolink:NamedThing			mondoexuq1wtf																														
DOID:9410	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765196004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204030002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010452	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93767009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332849	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35172	biolink:NamedThing			mondoexuq1wtf																														
DOID:229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43929004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254174005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271558008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:263225007	biolink:NamedThing			mondoexuq1wtf																														
DOID:194	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84743	biolink:NamedThing			mondoexuq1wtf																														
DOID:10534	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445928005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3065	biolink:NamedThing			mondoexuq1wtf																														
DOID:7503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331176	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155820006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153589	biolink:NamedThing			mondoexuq1wtf																														
DOID:4490	biolink:NamedThing			mondoexuq1wtf																														
DOID:7642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4311049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239214	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606889	biolink:NamedThing			mondoexuq1wtf																														
DOID:9312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267717005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332194	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610915	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043121	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156109003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282488	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026456	biolink:NamedThing			mondoexuq1wtf																														
DOID:12096	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020755	biolink:NamedThing	obsolete heart block		mondoexuq1wtf							HP:0012722			True		SCTID:233916004														https://github.com/monarch-initiative/mondo/issues/2536				owl:Class
SNOMEDCT:233916004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3291	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016724	biolink:NamedThing			mondoexuq1wtf																														
DOID:13550	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13906002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2967	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5128	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187676006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239776008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697908003	biolink:NamedThing			mondoexuq1wtf																														
DOID:9745	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2066	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618874	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41252002	biolink:NamedThing			mondoexuq1wtf																														
DOID:790	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95690009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111503008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155282009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425318003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1720416	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92139000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810225	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201163007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300352	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000712	biolink:NamedThing			mondoexuq1wtf																														
DOID:1642	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154839008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402723003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401820	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50869007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346611	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27363	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123557	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612559	biolink:NamedThing			mondoexuq1wtf																														
DOID:4114	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333645	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191609005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271576	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124965005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80960004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720987001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15170009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200973000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52772002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157698	biolink:NamedThing			mondoexuq1wtf																														
DOID:13112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930966	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554194	biolink:NamedThing			mondoexuq1wtf																														
DOID:9442	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193939008	biolink:NamedThing			mondoexuq1wtf																														
DOID:5875	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423848	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128929007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334474	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606719	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78483000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197447004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6117	biolink:NamedThing			mondoexuq1wtf																														
DOID:13963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49429000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220724	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1779005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16567006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333783	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609056	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251950	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019569	biolink:NamedThing			mondoexuq1wtf																														
DOID:2055	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038531	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88327006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000796	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76537003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197347	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12418	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123258003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859101	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155460004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403331000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92050000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720830009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1828221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535509	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110711	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562895	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580439	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447961	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346330	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069643	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050721	biolink:NamedThing			mondoexuq1wtf																														
DOID:5385	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209033	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1533041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030569	biolink:NamedThing			mondoexuq1wtf																														
DOID:4851	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187740000	biolink:NamedThing			mondoexuq1wtf																														
DOID:11593	biolink:NamedThing			mondoexuq1wtf																														
MESH:D061325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1382025	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613517	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863648	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154466	biolink:NamedThing			mondoexuq1wtf																														
DOID:5866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:109009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192220003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010501	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080395	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35417	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4267	biolink:NamedThing			mondoexuq1wtf																														
DOID:14336	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80813006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197866008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201113	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14366000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3444	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154455006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9263	biolink:NamedThing			mondoexuq1wtf																														
DOID:1311	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302855005	biolink:NamedThing			mondoexuq1wtf																														
DOID:6024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72836002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240161003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:21454007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110054	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99141	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110702	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255056009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155936007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:431255	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241550	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050738	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93891008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740437	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3844	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7390	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4161	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606175	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78468005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606764	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234451005	biolink:NamedThing			mondoexuq1wtf																														
DOID:9808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0852077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64572001	biolink:NamedThing			mondoexuq1wtf																														
DOID:7289	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205162	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537785	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10017807	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090043	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203594	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000879	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440727	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39772007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310747	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012555	biolink:NamedThing			mondoexuq1wtf																														
DOID:2548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187808008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310737	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479636	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279705	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6998	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79382	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81771002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402524007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618280	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231	biolink:NamedThing			mondoexuq1wtf																														
DOID:4362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850127	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717222003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674838	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612431	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2316810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186819000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:234	biolink:NamedThing			mondoexuq1wtf																														
DOID:12134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280036	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342783	biolink:NamedThing			mondoexuq1wtf																														
DOID:11719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614079	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:445062	biolink:NamedThing			mondoexuq1wtf																														
DOID:10972	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96121	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4510567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969640	biolink:NamedThing			mondoexuq1wtf																														
DOID:4478	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612251	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118370	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66357004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564878	biolink:NamedThing			mondoexuq1wtf																														
DOID:4376	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267385007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614979	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191740008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN873437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567002	biolink:NamedThing			mondoexuq1wtf																														
DOID:5476	biolink:NamedThing			mondoexuq1wtf																														
DOID:5129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615214	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156347	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93728003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:385482004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213777	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010073	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54539003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4652	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416189003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228161	biolink:NamedThing			mondoexuq1wtf																														
DOID:11574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187124006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:284449005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67525007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/229600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:415286	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1842	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66760008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:538574	biolink:NamedThing			mondoexuq1wtf																														
DOID:114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050581	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485631	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008577	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948740	biolink:NamedThing			mondoexuq1wtf																														
DOID:4064	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537684	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060821	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010392	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48528004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110099	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2055003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:325093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308230	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206143	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71390001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618513	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:138047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2210965	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4287	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070048	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105706003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34532	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240807004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/214950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674665	biolink:NamedThing			mondoexuq1wtf																														
DOID:5838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153997	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007896	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8578	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34429	biolink:NamedThing			mondoexuq1wtf																														
DOID:6562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865643	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0157540	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94137004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603396	biolink:NamedThing			mondoexuq1wtf																														
DOID:10021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614424	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012288	biolink:NamedThing			mondoexuq1wtf																														
DOID:2568	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006445	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199232003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230381009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4329	biolink:NamedThing			mondoexuq1wtf																														
DOID:3818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726029005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721887007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004948	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268632	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050689	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225349	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201515	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566108	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050782	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97289	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190681003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3847	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718897009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238733003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D036982	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060178	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110876	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58750007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289596	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49386006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110892	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19213003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10026828	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566176	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080083	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110322	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014934	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:304	biolink:NamedThing			mondoexuq1wtf																														
DOID:5157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131688	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562441	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193827004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37095002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720518006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564275	biolink:NamedThing			mondoexuq1wtf																														
DOID:3565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618234	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403824007	biolink:NamedThing			mondoexuq1wtf																														
DOID:3723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206704	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238113006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848392	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154525002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192992007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748545	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609040	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193569008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564288	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715419004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126975006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464329	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:456298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085292	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189621008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32491009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:454718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832976	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4013426	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336753	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616487	biolink:NamedThing			mondoexuq1wtf																														
DOID:5916	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617014	biolink:NamedThing			mondoexuq1wtf																														
DOID:1245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19265001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98591	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245650	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060132	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309803	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251945	biolink:NamedThing			mondoexuq1wtf																														
DOID:6333	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005213	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51092000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46557008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10033940	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751545	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8525	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95653008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154453004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197967000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007117	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10055206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188644003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122440	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931914	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193079	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139491	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060690	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711163009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363428005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C51302	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53518003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/194072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199627	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716593008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589522	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716586009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403779009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118755	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25277000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764810000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1654001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001767	biolink:NamedThing			mondoexuq1wtf																														
DOID:4239	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254811006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58213005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866854	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111460	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204307003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538263	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN282827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99869	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3203346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302753	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612639	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751429	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619185	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119996	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63450009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175696	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252160	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563067	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154700009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201260002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393589007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20985003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65937002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:431034009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207098	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97678	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616947	biolink:NamedThing			mondoexuq1wtf																														
DOID:6337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303566	biolink:NamedThing			mondoexuq1wtf																														
DOID:14049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015505	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722763000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186312003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155704	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563901	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719843001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535818	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10027276	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193820002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565927	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751293	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27896	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020528	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193809002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1457897	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616811	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858142	biolink:NamedThing			mondoexuq1wtf																														
DOID:6370	biolink:NamedThing			mondoexuq1wtf																														
DOID:9714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253975004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613391	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566689	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203993009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1223	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:449395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98574	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853147	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D060048	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019867	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237530000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27710	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42589	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87163000	biolink:NamedThing			mondoexuq1wtf																														
DOID:11760	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74997	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111320	biolink:NamedThing			mondoexuq1wtf																														
DOID:6713	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231580	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154855	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93919005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233915000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423454	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2057	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2989	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000029	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111647	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24693007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269627002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10899004	biolink:NamedThing			mondoexuq1wtf																														
DOID:320	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307604008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1441	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721874001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34653	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/216100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236802	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750068	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842464	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031941	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5619004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186746000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5795	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931286	biolink:NamedThing			mondoexuq1wtf																														
DOID:12835	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153603	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011561	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002295	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90342	biolink:NamedThing			mondoexuq1wtf																														
DOID:4201	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79445	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135750	biolink:NamedThing			mondoexuq1wtf																														
DOID:3772	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536884	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5355	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867147	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3225	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30283007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398599000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:287081002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253093000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189213006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021396	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34730008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535669	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276379	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2435008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225296	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN229293	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27305	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190921003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14169000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191710006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN240510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22764001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194037001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836505	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080547	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014714	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300238	biolink:NamedThing			mondoexuq1wtf																														
DOID:4310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618176	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862062	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99812	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90368	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47099006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404035005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027743	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155326007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615541	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187632004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015276	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054329	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:309465005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7246	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:712750007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:66063001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27837	biolink:NamedThing			mondoexuq1wtf																														
DOID:4147	biolink:NamedThing			mondoexuq1wtf																														
DOID:2187	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004154	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129537	biolink:NamedThing			mondoexuq1wtf																														
DOID:4584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866184	biolink:NamedThing			mondoexuq1wtf																														
DOID:12571	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269536008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535655	biolink:NamedThing			mondoexuq1wtf																														
DOID:4419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238049009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4910	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84353	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156424003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98948	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237705	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764854006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017086	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618838	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8229003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013957	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332608	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/131750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:315299009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74986	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81211007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050476	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036102	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733606001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227972	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722019000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280644	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722429003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405822008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0391826	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:42062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/267730	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95243004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271724003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17231009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46567003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:69850007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C572568	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613015	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004169	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:232288	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36913	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859910	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95767006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85149007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227635	biolink:NamedThing			mondoexuq1wtf																														
DOID:4917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449844	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090143	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050722	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564629	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013271	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188055	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014997	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015417	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502075	biolink:NamedThing			mondoexuq1wtf																														
DOID:11595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232262007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096639	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33688009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:513456	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403414	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311284	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002022	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009383	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612513	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013396	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420932006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109385007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:409658007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268130001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193900004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535899	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003968	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232340005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8484	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600790	biolink:NamedThing			mondoexuq1wtf																														
DOID:365	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155296003	biolink:NamedThing			mondoexuq1wtf																														
DOID:2076	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2579	biolink:NamedThing			mondoexuq1wtf																														
DOID:3683	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567085	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566815	biolink:NamedThing			mondoexuq1wtf																														
DOID:10873	biolink:NamedThing			mondoexuq1wtf																														
DOID:12549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014869	biolink:NamedThing			mondoexuq1wtf																														
DOID:14748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3337	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7339009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78714004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207310001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564894	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68897000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238152	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050880	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715991005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242194	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156987002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33574	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601596	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206673	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187646004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128145	biolink:NamedThing			mondoexuq1wtf																														
DOID:3962	biolink:NamedThing			mondoexuq1wtf																														
DOID:11033	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610443	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699658004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860157	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013618	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100045	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400138001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2292	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3467	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255166003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6763	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5360002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6089	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269626006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536471	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614078	biolink:NamedThing			mondoexuq1wtf																														
DOID:3689	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0044262	biolink:NamedThing	obsolete cyanide, inability to smell		mondoexuq1wtf	cyanide, inability to smell					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:304300																		owl:Class
UMLS:C1844681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265326	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:486811	biolink:NamedThing			mondoexuq1wtf																														
DOID:5432	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300475	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004833	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110703	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65753	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335481	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:173599005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:316244	biolink:NamedThing			mondoexuq1wtf																														
DOID:3451	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227843	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015223	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C147072	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2242894	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7065	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0700299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194801005	biolink:NamedThing			mondoexuq1wtf																														
DOID:10461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87730004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564730	biolink:NamedThing			mondoexuq1wtf																														
MESH:D045828	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155424009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95641009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3854373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235828008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614080	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0588125	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721875000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863594	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377912	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3560	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432306	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336853	biolink:NamedThing			mondoexuq1wtf																														
MESH:C531621	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765485000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280793	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390898003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:392662004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278653	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254122007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537010	biolink:NamedThing			mondoexuq1wtf																														
DOID:7334	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716659002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939435	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189130001	biolink:NamedThing			mondoexuq1wtf																														
DOID:11177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186701001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400192002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931675	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203308	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187374004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186850	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7813	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:124	biolink:NamedThing			mondoexuq1wtf																														
DOID:1862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221287	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237117005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188763007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010195	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52794005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111097	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2609256	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79174	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357058	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0949445	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105668007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540522	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48644003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084770	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332865	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300983	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34041001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24327009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110532	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616033	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537559	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38826005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205416009	biolink:NamedThing			mondoexuq1wtf																														
DOID:5282	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268788005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019636	biolink:NamedThing			mondoexuq1wtf																														
DOID:5834	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60700002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699331002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:279225001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703298001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30301008	biolink:NamedThing			mondoexuq1wtf																														
DOID:9362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271865	biolink:NamedThing			mondoexuq1wtf																														
DOID:11256	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92070006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280977	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263997	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4085252	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150677	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309334	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333265	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3289004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422338006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/151620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158634	biolink:NamedThing			mondoexuq1wtf																														
DOID:3463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859307	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7943	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195053008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40070004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345419	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019295	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80466000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733489002	biolink:NamedThing			mondoexuq1wtf																														
DOID:9663	biolink:NamedThing			mondoexuq1wtf																														
DOID:4749	biolink:NamedThing			mondoexuq1wtf																														
DOID:3479	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:177504007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001314	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277465	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:56965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448563005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108010	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336875	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254435009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410692006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011876	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113482	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060540	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037205	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168549	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206586	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616437	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007135	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424925	biolink:NamedThing			mondoexuq1wtf																														
DOID:3007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199500	biolink:NamedThing			mondoexuq1wtf																														
DOID:1456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281044	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601187	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111583	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3347	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037933	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2835	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970010	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336774	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480491	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053240	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080266	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1295	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154612003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37262	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82458004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76802005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564766	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834671	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1135873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271166	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048804	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192738001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205465004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237837007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3807873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/262190	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039093	biolink:NamedThing			mondoexuq1wtf																														
DOID:13343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020542	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060230	biolink:NamedThing			mondoexuq1wtf																														
DOID:11701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4517289	biolink:NamedThing			mondoexuq1wtf																														
DOID:6603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280597	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447788	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33666009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278193	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91038008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615540	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611561	biolink:NamedThing			mondoexuq1wtf																														
DOID:11875	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128811003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403981003	biolink:NamedThing			mondoexuq1wtf																														
DOID:421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292199	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535609	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238840009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267513007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:422426003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861578	biolink:NamedThing			mondoexuq1wtf																														
DOID:12144	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796010	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198248008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948101	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207386	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186772009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866398	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:423425006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718219002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275932	biolink:NamedThing			mondoexuq1wtf																														
DOID:8632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026769	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080336	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859299	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1885	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9094	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60078000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537562	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289586	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202053	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715950008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230321007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191109006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98922	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202634006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75467	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335503	biolink:NamedThing			mondoexuq1wtf																														
DOID:12678	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011406	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72620002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282309	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210133	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400179000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6687001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050895	biolink:NamedThing			mondoexuq1wtf																														
DOID:12124	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563330	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863204	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4570	biolink:NamedThing			mondoexuq1wtf																														
DOID:4447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748737	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124300	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677099	biolink:NamedThing			mondoexuq1wtf																														
DOID:14033	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95339000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118602004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4730	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23829007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:941	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157059004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300245	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050918	biolink:NamedThing			mondoexuq1wtf																														
DOID:5781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206546	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195348009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85750001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007409	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014394	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567561	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247410	biolink:NamedThing			mondoexuq1wtf																														
DOID:5221	biolink:NamedThing			mondoexuq1wtf																														
DOID:4639	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93754006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275487	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225193	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111385	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204440	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060114	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715632003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853139	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605899	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617595	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022364	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193172009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275126	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153575	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/313480	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247573	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155700000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:440350001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618237	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010626	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611126	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776944	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128917003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155866	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3674	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/172150	biolink:NamedThing			mondoexuq1wtf																														
DOID:11820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39810	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84093	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84745	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227270	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007128	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718608006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89332	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335929	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015167	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335165	biolink:NamedThing			mondoexuq1wtf																														
DOID:8800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265338	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206662	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98931	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488613	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3278211	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3407	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205546	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31202	biolink:NamedThing			mondoexuq1wtf																														
DOID:7326	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860471	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835488	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN241790	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060582	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016569	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254619006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123251	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:569	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538160	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235878005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537630	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563718	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58976002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838359	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149255	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009668	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2735009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297226004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565720	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795891	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615222	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2987260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861983	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87125	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605598	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537998	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113485	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009397	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013281	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717182006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697898008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201211007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363444001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203109	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702443003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162853	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/118230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193862009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226195	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10035059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1563215	biolink:NamedThing			mondoexuq1wtf																														
DOID:10632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95568003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49748000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153567	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:44	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606984	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613610	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488280	biolink:NamedThing			mondoexuq1wtf																														
DOID:3486	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050965	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:243367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26374003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393576	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71244007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724208006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1704423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4321247	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154654000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855868	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17170005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97168	biolink:NamedThing			mondoexuq1wtf																														
DOID:557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306617	biolink:NamedThing			mondoexuq1wtf																														
DOID:4186	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751493	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565919	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567726	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35783	biolink:NamedThing			mondoexuq1wtf																														
DOID:3357	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38233001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274102007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733518000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617744	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618201	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308905	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49107007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041227	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861558	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841658	biolink:NamedThing			mondoexuq1wtf																														
DOID:5179	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150954	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609814	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300997	biolink:NamedThing			mondoexuq1wtf																														
DOID:2861	biolink:NamedThing			mondoexuq1wtf																														
DOID:14775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711524008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8588	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000219	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004719	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297237003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247846	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409957	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:212973000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199117000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567516	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563909	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857779	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617173	biolink:NamedThing			mondoexuq1wtf																														
DOID:5545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240119009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271956003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335684	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763533003	biolink:NamedThing			mondoexuq1wtf																														
DOID:119	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402910001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:391987005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719455002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1096638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50848	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154276	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128668003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4854004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834688	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274528	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9101	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/219200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:45448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393601	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191209000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611962	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34093004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55236002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795895	biolink:NamedThing			mondoexuq1wtf																														
DOID:4110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314419	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535666	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128080005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6655004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234607008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56989000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271889	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189804002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266853	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0341782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92818009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266292008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549448	biolink:NamedThing			mondoexuq1wtf																														
DOID:6856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843330	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111195	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537651	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293825	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127012008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35173	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810324	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63951004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65846009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN035860	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26802	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269557000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13394002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242670	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931822	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/141750	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67668002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018238	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226645	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197655004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563236	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193128	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60743005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4968	biolink:NamedThing			mondoexuq1wtf																														
DOID:9459	biolink:NamedThing			mondoexuq1wtf																														
DOID:4986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200461	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187532008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C165469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618664	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042863	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43589	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32914008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235001002	biolink:NamedThing			mondoexuq1wtf																														
DOID:371	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192433006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041233	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/117000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843274	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838867	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155105	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201331	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54097007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007636	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88923002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN043649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432239	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334255	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:698053001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011201	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070180	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:397725	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000151	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110858	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334417	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178426	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187352005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45456005	biolink:NamedThing			mondoexuq1wtf																														
DOID:5681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240379005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796218	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618187	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6172	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45339001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/358137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715802008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707276009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566483	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38742007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128460000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155795	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709044004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26624006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:755	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268843	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7365	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191378007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221046	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75068001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70348004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/213400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158178	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197348	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851879	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22331004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C42700	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386783003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543669	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181376	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197441003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253098009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335178	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238640007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367403001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080389	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037418	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618587	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295014	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199652007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190938004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/212160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307594007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15084002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47757001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003789	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300519	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859598	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202866	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:505237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024759	biolink:NamedThing			mondoexuq1wtf																														
DOID:11189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226122	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720951008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268340009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352657	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535585	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336865	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146110	biolink:NamedThing			mondoexuq1wtf																														
DOID:4985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25560004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72092001	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0016111	biolink:NamedThing	obsolete non-dystrophic myopathy with collagen 6 anomaly		mondoexuq1wtf						Obsolete in Orphanet				True		Orphanet:206659																		owl:Class
ORPHA:206659	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111700	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98910	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111187	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931029	biolink:NamedThing			mondoexuq1wtf																														
DOID:8692	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230531004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220992	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206699	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849432	biolink:NamedThing			mondoexuq1wtf																														
DOID:10588	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23201000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719431007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35042	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2960452	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718770005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35765	biolink:NamedThing			mondoexuq1wtf																														
DOID:3816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117111	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397357000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205181	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247090008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750064	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604380	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609289	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717914000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855772	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312974005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:179494	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5318	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002982	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721234004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0948089	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/271650	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346151	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22298006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN787271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314629	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261183	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192502006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070146	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90077	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:249510006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269563009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26590002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007925	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193106006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537592	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254783008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84777002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334619	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98555	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565617	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257500	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155111	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39834	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198029003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43149009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405810005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95437	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016706	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126327	biolink:NamedThing			mondoexuq1wtf																														
DOID:12339	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C147530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5620	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610065	biolink:NamedThing			mondoexuq1wtf																														
DOID:4384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47841006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028882	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:776	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93298	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084821	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67256000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005940	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82339	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166469	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538333	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196669008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128908003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45256	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/307000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616781	biolink:NamedThing			mondoexuq1wtf																														
DOID:1791	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070081	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537305	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1955837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186505008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050859	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4082793	biolink:NamedThing			mondoexuq1wtf																														
DOID:13268	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266201009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:432119003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745996	biolink:NamedThing			mondoexuq1wtf																														
DOID:7030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865070	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518233	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4546	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89461002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294415	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263505	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65389002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618243	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843792	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2266	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3275508	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225394	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45514	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187372000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1960469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254070003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/200150	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75121	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718632004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014354	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:732	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92584005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116719	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156664007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035869	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615264	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155754	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277600006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866425	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84442	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537355	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178544	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1869118	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601709	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN033288	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154463007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060289	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210700	biolink:NamedThing			mondoexuq1wtf																														
DOID:7242	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114766	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93953	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230421008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839928	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8498	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300878	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855116	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55846006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:304595001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C12415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267436001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93560	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111334	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238869000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:722	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:504476	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230769007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715404000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254793	biolink:NamedThing			mondoexuq1wtf																														
DOID:7587	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1611	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716697002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203809	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3458	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054842	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94146005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050868	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83595	biolink:NamedThing			mondoexuq1wtf																														
DOID:14392	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10025915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1257958	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536690	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0311223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254097005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27667	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611572	biolink:NamedThing			mondoexuq1wtf																														
DOID:11265	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/246200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:414173003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10935	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717041008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196982002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2482001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332315	biolink:NamedThing			mondoexuq1wtf																														
DOID:6344	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566449	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78245	biolink:NamedThing			mondoexuq1wtf																														
DOID:3749	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344760	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6727	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441541008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520076	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193588001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110497	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13920009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018767	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022336	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042510	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84713	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195136004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101033	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10047780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837461	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567244	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193496008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540179	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610333	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2102007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153938	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001145	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613099	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49351009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050259	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856727	biolink:NamedThing			mondoexuq1wtf																														
DOID:3819	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403912001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275241	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29212009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267742001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608600	biolink:NamedThing			mondoexuq1wtf																														
DOID:2556	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120909	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3549874	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226097	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247815	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155216002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313426007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235025	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:48918	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110053	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1527368	biolink:NamedThing			mondoexuq1wtf																														
DOID:710	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536458	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206655	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191303002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856973	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124252008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404143002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C54293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205542007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190297000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193920003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346249	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609456	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615771	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537529	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014123	biolink:NamedThing			mondoexuq1wtf																														
DOID:5854	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0020261	biolink:NamedThing	obsolete neurological disease with abnormal eye movements		mondoexuq1wtf	abnormal eye movements					Obsolete in Orphanet				True		Orphanet:98691																		owl:Class
ORPHA:98691	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0863024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187842004	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0009317	biolink:NamedThing	obsolete nonphotosensitive trichothiodystrophy	A trichothiodystrophy that is non-photosensitive	mondoexuq1wtf		obsolete in Orphanet					MONDO:0018053			True		Orphanet:1245														https://github.com/monarch-initiative/mondo/issues/2852				owl:Class
ORPHA:1245	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206407	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83579008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201389	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612474	biolink:NamedThing			mondoexuq1wtf																														
DOID:4037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116955	biolink:NamedThing			mondoexuq1wtf																														
DOID:2801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2237660	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370484007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3362	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:572013	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203813	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197448	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716594002	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266399	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4890	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832702	biolink:NamedThing			mondoexuq1wtf																														
DOID:14019	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5913000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154855001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192411009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719255000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363386008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22903002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205645	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608104	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38692000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/109820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060220	biolink:NamedThing			mondoexuq1wtf																														
DOID:2470	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1961117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247372003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834569	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850385	biolink:NamedThing			mondoexuq1wtf																														
DOID:3827	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150967	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237612000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3495552	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195354005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150890	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238727007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155303	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363494	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194800006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225364	biolink:NamedThing			mondoexuq1wtf																														
DOID:10685	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110964	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019559	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567433	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247353	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308712	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796081	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4917	biolink:NamedThing			mondoexuq1wtf																														
DOID:334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566034	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416707008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618152	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062606	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155360	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310655	biolink:NamedThing			mondoexuq1wtf																														
DOID:12995	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324723	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60570001	biolink:NamedThing			mondoexuq1wtf																														
DOID:698	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16687001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:566175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677794	biolink:NamedThing			mondoexuq1wtf																														
DOID:9091	biolink:NamedThing			mondoexuq1wtf																														
DOID:7175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614372	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037286	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227845	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29868009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/153550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/226980	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/210000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864867	biolink:NamedThing			mondoexuq1wtf																														
DOID:9296	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036341	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279622	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3419005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187138004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85884009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202809009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89427004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1809475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763713000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2745948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060574	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447100004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154741004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265499	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021832	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193497004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389203001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225378	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34715	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187687003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751683	biolink:NamedThing			mondoexuq1wtf																														
DOID:5870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537952	biolink:NamedThing			mondoexuq1wtf																														
DOID:9776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81830002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66633	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1772	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28366008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228174	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191482008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838701	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196335003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851402	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702440000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27454	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82146006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033575	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1114	biolink:NamedThing			mondoexuq1wtf																														
DOID:0040084	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018193	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071434	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201167	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33064008	biolink:NamedThing			mondoexuq1wtf																														
DOID:14330	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132827	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45142002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715796006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27312002	biolink:NamedThing			mondoexuq1wtf																														
DOID:14459	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142081	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601708	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93869001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154359004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98969	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371972005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0524912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751318	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751686	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3032	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233824008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080135	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608219	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564679	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN248517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332211	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216873	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535999	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10060632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128857001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78275009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:391343	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014354	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196822001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234146006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768472004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567011	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720418008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931647	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300500	biolink:NamedThing			mondoexuq1wtf																														
DOID:4856	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537740	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931230	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010370	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618012	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699870002	biolink:NamedThing			mondoexuq1wtf																														
DOID:11429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/154780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127579001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149514	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000657245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186818008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554209	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060418	biolink:NamedThing			mondoexuq1wtf																														
DOID:1781	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040948	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98721	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199126002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026363	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026603	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN032975	biolink:NamedThing			mondoexuq1wtf																														
DOID:8233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186880008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90159	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120502	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49428008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133270	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050842	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154382002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/173700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050665	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30069002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1168401	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254164007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036920	biolink:NamedThing			mondoexuq1wtf																														
DOID:4194	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25499005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2893	biolink:NamedThing			mondoexuq1wtf																														
DOID:4054	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36083008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3502055	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864827	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1723	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271569006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197364	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:54028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849774	biolink:NamedThing			mondoexuq1wtf																														
DOID:5139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1449563	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75109009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080535	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:536532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206652	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013920	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565662	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:60015	biolink:NamedThing			mondoexuq1wtf																														
DOID:9811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23056005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018318	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610297	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268461	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538231	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2205442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193019	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:420503003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866728	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267634006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050013	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187018002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267584007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0274576	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080259	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048699	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613705	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1412397	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3966	biolink:NamedThing			mondoexuq1wtf																														
DOID:13717	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5793	biolink:NamedThing			mondoexuq1wtf																														
DOID:4035	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857068	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93353003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847800	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0597039	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1142166	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720598005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130400	biolink:NamedThing			mondoexuq1wtf																														
DOID:2495	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/135700	biolink:NamedThing			mondoexuq1wtf																														
DOID:9970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206847	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566425	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511313	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567546	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014253	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231826004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19030005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1947949	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001163	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190021001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128843003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70600005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115234004	biolink:NamedThing			mondoexuq1wtf																														
DOID:6115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022573	biolink:NamedThing			mondoexuq1wtf																														
DOID:4562	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034849	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931662	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302950	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363417006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060303	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080593	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717054001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037149	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5505005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125384	biolink:NamedThing			mondoexuq1wtf																														
DOID:2999	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015615	biolink:NamedThing			mondoexuq1wtf																														
DOID:14400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043395	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9060000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154871001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392662	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168947	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/171480	biolink:NamedThing			mondoexuq1wtf																														
DOID:10932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406709	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111277	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154564	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205258	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4076724	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080149	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321865	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035302	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254898001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/124100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194119004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017029	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN181681	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53506	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215150	biolink:NamedThing			mondoexuq1wtf																														
DOID:13543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9306	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63166000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4478383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236527004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015129	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111014	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78314001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12759	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016136	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7719	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750783	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13238004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1666	biolink:NamedThing			mondoexuq1wtf																														
DOID:3758	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199356	biolink:NamedThing			mondoexuq1wtf																														
DOID:4451	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193576003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193817005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190433001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718606005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230299004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204690	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535791	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862681	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189261004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186508005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3165522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162533	biolink:NamedThing			mondoexuq1wtf																														
DOID:1540	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240174009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752150	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266397	biolink:NamedThing			mondoexuq1wtf																														
DOID:13333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565071	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2351	biolink:NamedThing			mondoexuq1wtf																														
DOID:13252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153999	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153392	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050892	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86836	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90389	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565960	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564266	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564565	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677079	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795875	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75045	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:498228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195479009	biolink:NamedThing			mondoexuq1wtf																														
DOID:11248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156409007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0686172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128130001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:425887005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276264	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724065003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234405009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4324	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842186	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108980	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25792000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858709	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110180	biolink:NamedThing			mondoexuq1wtf																														
DOID:3908	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535499	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99949	biolink:NamedThing			mondoexuq1wtf																														
DOID:11984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87513003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:709075008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38573008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970147	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154661001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448015002	biolink:NamedThing			mondoexuq1wtf																														
DOID:367	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021831	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511107	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026265	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070346	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123032	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4243	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266095	biolink:NamedThing			mondoexuq1wtf																														
DOID:7693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848172	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931186	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674259	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:269224	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277990	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619111	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007527	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931167	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022927	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265624	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4289808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567362	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566637	biolink:NamedThing			mondoexuq1wtf																														
DOID:13207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3463916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864901	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609918	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195056000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603670	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:118600007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080496	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260650	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5157	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043097	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2551	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35782	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:238305	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207458	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120440	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:588	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3722	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155474006	biolink:NamedThing			mondoexuq1wtf																														
MESH:DO14076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618063	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:428322007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193098000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2032	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007097	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C48452	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563563	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84622004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:57777	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763377006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277508009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536332	biolink:NamedThing			mondoexuq1wtf																														
DOID:13113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613628	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:227796	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868400	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38362	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398735	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007410	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C63709	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275808	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126880001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4040879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014067	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110512	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206653	biolink:NamedThing			mondoexuq1wtf																														
DOID:10250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406468	biolink:NamedThing			mondoexuq1wtf																														
DOID:1625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608542	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192872001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/241080	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92559007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110208	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406816	biolink:NamedThing			mondoexuq1wtf																														
DOID:14286	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107250	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/261670	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601375	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153637	biolink:NamedThing			mondoexuq1wtf																														
DOID:2530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53801007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111042	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3678	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C83010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78308	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613172	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5050001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268229003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35484002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508488	biolink:NamedThing			mondoexuq1wtf																														
DOID:5600	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10010654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192513009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN232319	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39746003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155045005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444916	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186963008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809289	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190059009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734434007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3161106	biolink:NamedThing			mondoexuq1wtf																														
DOID:2450	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310749	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040493	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60342002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309548	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68367	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN502749	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564245	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4152	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564816	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536305	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134209002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26864	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156500	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844919	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1300	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76849009	biolink:NamedThing			mondoexuq1wtf																														
DOID:7436	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715434005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718900002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011573	biolink:NamedThing			mondoexuq1wtf																														
DOID:12192	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206062	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833453	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235966007	biolink:NamedThing			mondoexuq1wtf																														
DOID:882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554348	biolink:NamedThing			mondoexuq1wtf																														
DOID:13404	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126344	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201475	biolink:NamedThing			mondoexuq1wtf																														
DOID:9973	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187361005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618549	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853755	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536184	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931214	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50714	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:426965005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123976001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127570002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332185	biolink:NamedThing			mondoexuq1wtf																														
DOID:13832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122526	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129436	biolink:NamedThing			mondoexuq1wtf																														
DOID:13589	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052622	biolink:NamedThing			mondoexuq1wtf																														
DOID:7390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007932	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:493342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50749006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270824	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408643008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535708	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616896	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234970006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864947	biolink:NamedThing			mondoexuq1wtf																														
MESH:D041881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:476113	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271832	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192928003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387837005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846564	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1262087	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519320	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080275	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050760	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312921000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535289	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6921	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227618	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020757	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153535	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563390	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:333	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564665	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615592	biolink:NamedThing			mondoexuq1wtf																														
DOID:2321	biolink:NamedThing			mondoexuq1wtf																														
DOID:2000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204733009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535761	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156622007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537836	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535314	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518793	biolink:NamedThing			mondoexuq1wtf																														
DOID:12167	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79138	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231090	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6469	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618643	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254050009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4274	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129438	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37250002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34962	biolink:NamedThing			mondoexuq1wtf																														
DOID:8161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61233003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110177	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C20701	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264490	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40225001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284395	biolink:NamedThing			mondoexuq1wtf																														
DOID:361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201250	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563723	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:487814	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676468	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:89842	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563624	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237465	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197605007	biolink:NamedThing			mondoexuq1wtf																														
DOID:13730	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225257	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610338	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268689	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90653	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2016	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300716	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300833	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616154	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1428293	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54792008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536176	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614116	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242490	biolink:NamedThing			mondoexuq1wtf																														
DOID:1631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237101004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2350476	biolink:NamedThing			mondoexuq1wtf																														
DOID:7697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363140000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70476	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206031	biolink:NamedThing			mondoexuq1wtf																														
DOID:10986	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042341	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189785008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78868004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/148820	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854106	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209951	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609197	biolink:NamedThing			mondoexuq1wtf																														
DOID:4542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837845	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98142	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535278	biolink:NamedThing			mondoexuq1wtf																														
DOID:2668	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77817004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371423007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108991	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616095	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111319	biolink:NamedThing			mondoexuq1wtf																														
DOID:3039	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604771	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2311	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618116	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537011	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272253	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439455002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838180	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3200	biolink:NamedThing			mondoexuq1wtf																														
DOID:11132	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566669	biolink:NamedThing			mondoexuq1wtf																														
DOID:14250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359631009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863732	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6020	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255071008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203808	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3086	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0599464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198005005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:390722003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:314428001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675113	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342871	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:335002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796220	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314381	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050538	biolink:NamedThing			mondoexuq1wtf																														
DOID:728	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564603	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93808006	biolink:NamedThing			mondoexuq1wtf																														
DOID:10660	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050854	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:838	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862263	biolink:NamedThing			mondoexuq1wtf																														
DOID:7	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C94678	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193626006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0917800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700425	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4555	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931422	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267393007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037150	biolink:NamedThing			mondoexuq1wtf																														
DOID:6648	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566935	biolink:NamedThing			mondoexuq1wtf																														
DOID:12043	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722381004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98906	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0521655	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617781	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607323	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:408539000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719974003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537963	biolink:NamedThing			mondoexuq1wtf																														
DOID:8541	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535522	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/106260	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/546803	biolink:NamedThing			mondoexuq1wtf																														
DOID:479	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970820	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116362	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126690	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87114	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001424	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139557	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014617	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10023076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187985009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600931	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200779005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041959	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237091009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060787	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79411	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251656	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201212000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126967000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4760307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295028	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249000	biolink:NamedThing			mondoexuq1wtf																														
DOID:905	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:75566	biolink:NamedThing			mondoexuq1wtf																														
DOID:12143	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468661	biolink:NamedThing			mondoexuq1wtf																														
DOID:14702	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839164	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751067	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752342	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566602	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707608003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187350002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853137	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000026	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151421	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110600	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:598	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81780002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0578661	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301059	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93683002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060016	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714958	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125605004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271829	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40787005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403833009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:112086008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203996	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302060	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481152	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83664006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129980	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1247	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2034	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564710	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852093	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265328	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750035	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060685	biolink:NamedThing			mondoexuq1wtf																														
DOID:10184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398909004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254633006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294967	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249710	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608217	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402902002	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10031302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111427	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88697005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080011	biolink:NamedThing			mondoexuq1wtf																														
DOID:10192	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080180	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196265005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:202870007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616321	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008583	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:427306008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3744	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060358	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236067006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613371	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35714	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860773	biolink:NamedThing			mondoexuq1wtf																														
DOID:643	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113210	biolink:NamedThing			mondoexuq1wtf																														
DOID:9174	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39953	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/133750	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27321001	biolink:NamedThing			mondoexuq1wtf																														
DOID:4412	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6551	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76880004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808802	biolink:NamedThing			mondoexuq1wtf																														
DOID:2583	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152900	biolink:NamedThing			mondoexuq1wtf																														
DOID:4160	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020765	biolink:NamedThing			mondoexuq1wtf																														
DOID:9809	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186171006	biolink:NamedThing			mondoexuq1wtf																														
DOID:11261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854565	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28558000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394659003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1088	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550963	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93849006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809665	biolink:NamedThing			mondoexuq1wtf																														
MESH:D023921	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79181	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/255600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611816	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39837002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613762	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62578003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969562	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080222	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050909	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295241	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118423	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278599	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863224	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187390	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95462	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234406005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050732	biolink:NamedThing			mondoexuq1wtf																														
DOID:749	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254830006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202865	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050012	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048643	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614344	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203895	biolink:NamedThing			mondoexuq1wtf																														
DOID:12308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332974	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191472007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279839	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363355002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:144187006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538270	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35265002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2959445	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:767713001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3180937	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53913001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292773	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308122007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240532009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207070	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46152009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3306	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/231950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838611	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111817006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1520093	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197309008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13310	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703528008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156523007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030443	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070018	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019851	biolink:NamedThing			mondoexuq1wtf																														
DOID:470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566592	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721846006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1562113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3161105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808377	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37257	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399183005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274968	biolink:NamedThing			mondoexuq1wtf																														
DOID:13060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193487008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535434	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295022	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10039016	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35434	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008664	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0566602	biolink:NamedThing			mondoexuq1wtf																														
DOID:5940	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565158	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1501	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35545005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121619	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016807	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73144008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152444	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006330	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:43	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060749	biolink:NamedThing			mondoexuq1wtf																														
DOID:8361	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197800004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90439	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930796	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334232	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392060	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17093002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110681	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0600260	biolink:NamedThing			mondoexuq1wtf																														
DOID:4778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51921000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2809	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0344485	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN714013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79325	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565228	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55129006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371029002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51615001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116593	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237436008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:424568000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126699008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:28455	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:50920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/211960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32236000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265385	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009477	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111565003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74277007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855884	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3184	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190179004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005862	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145981	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415295002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187002008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0409818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1292778	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601682	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851412	biolink:NamedThing			mondoexuq1wtf																														
DOID:7474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970207	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30281009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2373	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:115236002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616893	biolink:NamedThing			mondoexuq1wtf																														
DOID:7014	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563051	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155243	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40159	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186507000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060451	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605388	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020424	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156396006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155229	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188664008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303591	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2960113	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111585	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12778004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535549	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94083	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84496	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:435061000124102	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187841006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6631009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D046248	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264180	biolink:NamedThing			mondoexuq1wtf																														
DOID:625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618449	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608045	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65764006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619059	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6758	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562729	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/191650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345065	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:40315008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154827000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614037	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/233910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605055	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67038	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:632009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4040907	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090088	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675646	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:73	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1709666	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617055	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002281	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441787004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018442	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155535001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27300	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10019350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35794	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4151000119102	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496826	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618268	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014722	biolink:NamedThing			mondoexuq1wtf																														
DOID:11554	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339814	biolink:NamedThing			mondoexuq1wtf																														
DOID:3076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540251	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94047004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852073	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1537752	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207195	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0520459	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860596	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535922	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676741	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254290004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540266	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27208	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612726	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3745000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295163	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237706000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234500001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10020764	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057846	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192493008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67277	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8847002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675601	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851124	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238776001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855468	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036129	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607373	biolink:NamedThing			mondoexuq1wtf																														
DOID:9365	biolink:NamedThing			mondoexuq1wtf																														
DOID:401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432311	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238416009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205721	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857315	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134363002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79397	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150887	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/147950	biolink:NamedThing			mondoexuq1wtf																														
DOID:4400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:401768	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613801	biolink:NamedThing			mondoexuq1wtf																														
DOID:5757	biolink:NamedThing			mondoexuq1wtf																														
DOID:14066	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346027	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848793	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605218	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186928003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155199	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/207731	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131634	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14447001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536289	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110754	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125663	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266075009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154595006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838654	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:440368	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616108	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237997005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110637	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615860	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838239	biolink:NamedThing			mondoexuq1wtf																														
DOID:1364	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123150	biolink:NamedThing			mondoexuq1wtf																														
DOID:14151	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262211	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718766002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0038436	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540478	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111094	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7217	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193970000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2019443	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84537	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858536	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016574	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538095	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99844	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613581	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60234000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266180	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034072	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33475	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111297	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:252990005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554453	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198536006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198211004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675993	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254959007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:445338005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310725	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84780	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564491	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79962008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607674	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715723008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2447	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085413	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3493	biolink:NamedThing			mondoexuq1wtf																														
MESH:C000598745	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:90685008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268252004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103910	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603221	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023652	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2938	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606662	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36258	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718847005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0375275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93783009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:59393003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276206000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845068	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251046	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610708	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040896	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565216	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057735	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020315	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192442004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0563238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363467004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65553006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154611005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1159	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018250	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404029005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7598	biolink:NamedThing			mondoexuq1wtf																														
DOID:4031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187805006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536911	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618162	biolink:NamedThing			mondoexuq1wtf																														
DOID:5274	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615348	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55821006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28351005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111113	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244510	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99854	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201319007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:373168002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281055	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617660	biolink:NamedThing			mondoexuq1wtf																														
DOID:5809	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299574	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809490	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014516	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:13600006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312530	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536479	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536275	biolink:NamedThing			mondoexuq1wtf																														
DOID:9487	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3356	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3748	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195665006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4472	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613758	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52781008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236530006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126740	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3702	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10040641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725392005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026707	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272761	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100033	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:183342005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6448	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8262006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402852007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1565172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/159500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/275595	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155143000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010523	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188737002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154719004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080249	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508542	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3164344	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536122	biolink:NamedThing			mondoexuq1wtf																														
DOID:1107	biolink:NamedThing			mondoexuq1wtf																														
DOID:5513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832926	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45414006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009456	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271606	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563134	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0080024	biolink:NamedThing			mondoexuq1wtf																														
DOID:9733	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284339	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716008002	biolink:NamedThing			mondoexuq1wtf																														
DOID:8642	biolink:NamedThing			mondoexuq1wtf																														
DOID:1273	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617771	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053878	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28168000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142730	biolink:NamedThing			mondoexuq1wtf																														
MESH:D031941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32620007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27489	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764104003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1748006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5126	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013743	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4487	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416010008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853513	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3828	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228396	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535719	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301950	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016757	biolink:NamedThing			mondoexuq1wtf																														
DOID:3297	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722110003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052517	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0150005	biolink:NamedThing			mondoexuq1wtf																														
DOID:11771	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61831009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40234	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751729	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31384009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187304000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001418	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848435	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259737	biolink:NamedThing			mondoexuq1wtf																														
DOID:9565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403764	biolink:NamedThing			mondoexuq1wtf																														
DOID:5353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:31742004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716584007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/150900	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537999	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071183	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538278	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62803002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189769003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84494001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN029625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711481001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269527009	biolink:NamedThing			mondoexuq1wtf																														
DOID:4773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24505004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237657009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699300009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204524	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155071	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537208	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:497737	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:765190005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335418	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204962002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94077005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80375002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562591	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:346	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154747	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417702007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006058	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30575002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33382000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2612	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363489	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111623	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:451030007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77259	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618240	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070049	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566337	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536833	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2965	biolink:NamedThing			mondoexuq1wtf																														
DOID:5550	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111266	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C102533	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:243343	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2699508	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34530	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003248	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:447782002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156663001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050852	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155095	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85040	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618590	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610773	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750737	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835852	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280763	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270710	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614872	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254922006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84667	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232006002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254925	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1327915	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111806005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553442	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616958	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005184	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197420009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187112004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024225	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7967	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037930	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271083000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27125	biolink:NamedThing			mondoexuq1wtf																														
DOID:1381	biolink:NamedThing			mondoexuq1wtf																														
DOID:9987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537766	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110735	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39991	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003232	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206570	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387842002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253082002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110460	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195528001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187712005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40261	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2827503	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99964	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10053745	biolink:NamedThing			mondoexuq1wtf																														
DOID:7475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245660	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233759002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703702007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237692001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002813	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111648	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363746	biolink:NamedThing			mondoexuq1wtf																														
DOID:9880	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616268	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721571001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:438504004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6963001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207131	biolink:NamedThing			mondoexuq1wtf																														
DOID:8913	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99122	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722105002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C142802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89623007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28173006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:365157004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155527004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140933	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008949	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842321	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606056	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:446474007	biolink:NamedThing			mondoexuq1wtf																														
DOID:11014	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:307067	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614575	biolink:NamedThing			mondoexuq1wtf																														
DOID:3526	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:609329007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9137	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124454007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8800006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536358	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617349	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123609007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193291000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28431005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0274294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99818	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237576001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334415	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565933	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836305	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605462	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113170	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060809	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209010	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012207	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3717	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931384	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110391	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40114	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72986009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26732	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207060	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748769	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5660	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6541	biolink:NamedThing			mondoexuq1wtf																														
DOID:12387	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050118	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26786	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C122655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535937	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1399354	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1691215	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1677	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037050	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96835	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27262	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2754	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154052	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253383003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254167000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751336	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239007005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:249	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050905	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931752	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199608	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:38292009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1304511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863092	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070245	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267856007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142400	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006819	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2841	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024145	biolink:NamedThing			mondoexuq1wtf																														
DOID:12782	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154585004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84523	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418763003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:752	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52254009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233858000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363623	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254613007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268868	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392607	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312780	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84427001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96422	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017098	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226963	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98473	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050242	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540499	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609941	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238945000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155817003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5939	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42711005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014833	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001847	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79573	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067917	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158178004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865117	biolink:NamedThing			mondoexuq1wtf																														
DOID:4109	biolink:NamedThing			mondoexuq1wtf																														
DOID:11684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65288	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336889	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839576	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189645007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538157	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26545006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18222007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264886	biolink:NamedThing			mondoexuq1wtf																														
DOID:2133	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050725	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262878	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334106	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193106	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:733110004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392610	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256840	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306400	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080078	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN477042	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75127007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:468631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006057	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715164	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111739	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058496	biolink:NamedThing			mondoexuq1wtf																														
DOID:5914	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028242	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65814009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151959	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206176	biolink:NamedThing			mondoexuq1wtf																														
DOID:13074	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336040	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080318	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7113	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C41619	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616025	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565941	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27167	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203928008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93372	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98757	biolink:NamedThing			mondoexuq1wtf																														
DOID:7571	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:398067003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837342	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230697005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99878	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10072176	biolink:NamedThing			mondoexuq1wtf																														
DOID:4715	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068651	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190687004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1337012	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601705	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050543	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29271008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271384	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842363	biolink:NamedThing			mondoexuq1wtf																														
DOID:12978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:402017	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363380002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567045	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931048	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79434	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127907005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91413	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:481665	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275803	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763528002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511051	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29689003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477794	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10003446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:34014006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566244	biolink:NamedThing			mondoexuq1wtf																														
DOID:13580	biolink:NamedThing			mondoexuq1wtf																														
DOID:2986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1876218	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5958006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721835008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187335006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1323	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225176	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4554	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600546	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019142	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190323008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715829003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050943	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335518	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44342003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3768	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154883004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155376	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332631	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0000773	biolink:NamedThing	obsolete Timothy grass allergy	A allergy involving a Phleum pratense.	mondoexuq1wtf	Phleum pratense allergic disease|Phleum pratense caused allergic disease|allergy of Phleum pratense	MONDO:outOfScope								True		DOID:0060498														https://github.com/monarch-initiative/mondo/issues/498				owl:Class
DOID:0060498	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848902	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600674	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004698	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187212006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83901003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154775	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261476	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C45202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203042	biolink:NamedThing			mondoexuq1wtf																														
DOID:6888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796149	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019693	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190022008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158617	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673536	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050797	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070026	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253006001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848526	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839112	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:76902006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9270	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616307	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193235	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068783	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5603	biolink:NamedThing			mondoexuq1wtf																														
DOID:4812	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2728	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970473	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334419	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156152	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258870	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:14386001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715463008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238757003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155498004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:391178000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004997	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195042002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/170390	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345839	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/204700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600361	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012671	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615294	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0158328	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279603	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060164	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:485426	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2079538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/122880	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562379	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537370	biolink:NamedThing			mondoexuq1wtf																														
DOID:14202	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567390	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154985007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127039000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:636	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:32960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225417	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300844	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359633007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0086227	biolink:NamedThing			mondoexuq1wtf																														
DOID:13258	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36078	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308451	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562543	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84391	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1264041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265211	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:466677	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300998	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119800	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261831	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:278052009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931463	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333092	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0546837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1512935	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C82403	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562886	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72967001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110531	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608316	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:207015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715471007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537881	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210136	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699299001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240131006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566030	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN252655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809893	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:103918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3828369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406578	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9280	biolink:NamedThing			mondoexuq1wtf																														
DOID:4658	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98889	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608703	biolink:NamedThing			mondoexuq1wtf																														
DOID:5563	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3413	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197057008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:172697005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203953	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3088	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300916003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268158009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111090	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270639	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93930	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567786	biolink:NamedThing			mondoexuq1wtf																														
DOID:6034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65282	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616481	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264746	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849139	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612621	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188156001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842797	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280282	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5424	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613587	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606824	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563874	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42012007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127023007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3160733	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195207009	biolink:NamedThing			mondoexuq1wtf																														
DOID:3405	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2607948	biolink:NamedThing			mondoexuq1wtf																														
DOID:12171	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613145	biolink:NamedThing			mondoexuq1wtf																														
DOID:8719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207117	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/304300	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10061990	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751826	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236440007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254100000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203353000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846367	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040411	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195987000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188731001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564298	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151405	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004604	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276608	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1516	biolink:NamedThing			mondoexuq1wtf																														
DOID:2786	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302872003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868633	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563803	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536699	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110916	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276575	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1299627	biolink:NamedThing			mondoexuq1wtf																														
MONDO:0021665	biolink:NamedThing	obsolete Refsum disease	A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.	mondoexuq1wtf	Refsum disease					This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common.	MONDO:0009958			True		NCIT:C85043																		owl:Class
ORPHA:268947	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193018	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295053	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617626	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:38874	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111534	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563949	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26801	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:247794	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615163	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332995	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6357	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060696	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75614007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266725	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110764	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359717002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333375	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0851693	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677793	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863881	biolink:NamedThing			mondoexuq1wtf																														
DOID:2667	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236302005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567109	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006828	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535420	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110475	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8793008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267705008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015388	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032927	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059407	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27065	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016881	biolink:NamedThing			mondoexuq1wtf																														
DOID:11736	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703270004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842357	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887696	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535291	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:5601008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050632	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610024	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/228800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265979	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1715	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334383	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722062004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110511	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363457009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846273	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036508	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702327009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608345	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050995	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192938008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3836	biolink:NamedThing			mondoexuq1wtf																														
DOID:5284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193028	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:521	biolink:NamedThing			mondoexuq1wtf																														
DOID:9775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931542	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:211067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D023521	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057770	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614674	biolink:NamedThing			mondoexuq1wtf																														
DOID:13197	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111561007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795812	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614564	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723819007	biolink:NamedThing			mondoexuq1wtf																														
DOID:1612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110192	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231859001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393607	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4921002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110297	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060374	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334698	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199660	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015435	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199645005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332976	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565206	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34527	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188767008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389999002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:231742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849069	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84685	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615673	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012301	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0000773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27618009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79586000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4549	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069521	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111107	biolink:NamedThing			mondoexuq1wtf																														
DOID:5564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128730009	biolink:NamedThing			mondoexuq1wtf																														
DOID:204	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84539	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288048	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1423606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191192008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20551005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67915005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/177170	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151410	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0393847	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6181	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776917	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363430007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77029009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859352	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538339	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363230005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:984	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110557	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68378	biolink:NamedThing			mondoexuq1wtf																														
MESH:D021182	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2888	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002862	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027070	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931096	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123051004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005717	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009896	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2952	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0746727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227338	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536229	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5401	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2098	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97155	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146720	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:416209007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616532	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139650	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28047004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851376	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:477771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702384004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304505	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10054161	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2919692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333757	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194995005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867326	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111257	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707273001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:363694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3550273	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187536006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:221078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198146003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128374	biolink:NamedThing			mondoexuq1wtf																														
DOID:974	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:371861	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443162	biolink:NamedThing			mondoexuq1wtf																														
DOID:3927	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250994	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080560	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155077	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7641	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309930	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342645	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535361	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614347	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194847002	biolink:NamedThing			mondoexuq1wtf																														
DOID:10690	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936916	biolink:NamedThing			mondoexuq1wtf																														
DOID:9220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39823006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50448004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702391001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280886	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1298685	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:508529	biolink:NamedThing			mondoexuq1wtf																														
DOID:9694	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30270006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156888006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539964	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:399590005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734018003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005750	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5119	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225280	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006145	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10048220	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4446	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111389	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275012	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233822007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030185	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007888	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002452	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618168	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333383	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836199	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2697932	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155831003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763279007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238069004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203774	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024449	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5450	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018205	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269561006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:361126006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565642	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98784	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6017	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0236175	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27246	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867999	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721905000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0221023	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124138004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796430	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194267000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449814007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:169105	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155922002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82053000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417496004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268274	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566621	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:64	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007248	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796249	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567306	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565740	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154477005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206500	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3080	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98947	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3149631	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832550	biolink:NamedThing			mondoexuq1wtf																														
DOID:2602	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123308	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:297228003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43558	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56728002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4084842	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410190	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15845006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010378	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0279989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201234	biolink:NamedThing			mondoexuq1wtf																														
DOID:11678	biolink:NamedThing			mondoexuq1wtf																														
DOID:11695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464306	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110141	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538209	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251220	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268134	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110041	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C49107	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2285	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868309	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55999004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564391	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154823001	biolink:NamedThing			mondoexuq1wtf																														
DOID:6162	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:799	biolink:NamedThing			mondoexuq1wtf																														
DOID:216	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363473003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86422009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707341005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931019	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015814	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724039002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4290	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216796	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563677	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537464	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3557	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155913003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238114	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563681	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617404	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006313	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66646	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060864	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856185	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618961	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35287006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236871000119109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83616	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300155	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0404521	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010049	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017162	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717221005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1945	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153375	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611934	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:49558004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752037	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196681007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333481	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702365002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3539506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226030	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84625	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601560	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/156400	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535782	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536635	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291490	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1970	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537440	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132067	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280525	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748506	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724064004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402415001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1839	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213517	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12694001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127004000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225322	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015154	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:145	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10038804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931092	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193031009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347215	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5743	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259820	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564299	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188670002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035022	biolink:NamedThing			mondoexuq1wtf																														
DOID:4548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026884	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95406	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0543874	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536639	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716774008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99939	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40202	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34903	biolink:NamedThing			mondoexuq1wtf																														
DOID:13548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118859	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050693	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7425008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268920	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137245	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334356	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857802	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053632	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034066	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580424	biolink:NamedThing			mondoexuq1wtf																														
DOID:14219	biolink:NamedThing			mondoexuq1wtf																														
MESH:D059228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/251260	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237550	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721088003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070969	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617732	biolink:NamedThing			mondoexuq1wtf																														
DOID:12556	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535548	biolink:NamedThing			mondoexuq1wtf																														
DOID:7567	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162091	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764463001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080449	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205656	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190135002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306516	biolink:NamedThing			mondoexuq1wtf																														
DOID:495	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536977	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563601	biolink:NamedThing			mondoexuq1wtf																														
RO:0004001	biolink:NamedThing			mondoexuq1wtf																														owl:ObjectProperty
disease_has_basis_in_development_of	biolink:NamedThing	disease_has_basis_in_development_of		mondoexuq1wtf																														owl:ObjectProperty
BFO:0000051	biolink:NamedThing			mondoexuq1wtf																														owl:ObjectProperty
OBO:mondo#predisposes_towards	biolink:NamedThing	predisposes towards		mondoexuq1wtf																														owl:ObjectProperty
BFO:0000050	biolink:NamedThing			mondoexuq1wtf																														owl:ObjectProperty
RO:0004022	biolink:NamedThing	disease arises from feature		mondoexuq1wtf												RO:0004022|RO:0004022															disease_arises_from_feature|disease_arises_from_feature			owl:ObjectProperty
disease_has_basis_in_dysfunction_of	biolink:NamedThing	disease has basis in dysfunction of		mondoexuq1wtf												RO:0004020|RO:0004020															disease_has_basis_in_dysfunction_of|disease_has_basis_in_dysfunction_of			owl:ObjectProperty
OBO:mondo#disease_causes_feature	biolink:NamedThing	disease causes feature		mondoexuq1wtf																														owl:ObjectProperty
RO:0002162	biolink:NamedThing	in taxon		mondoexuq1wtf												RO:0002162|RO:0002162															in_taxon|in_taxon			owl:ObjectProperty
RO:0004030	biolink:NamedThing	disease arises from structure		mondoexuq1wtf												RO:0004030|RO:0004030															disease_arises_from_structure|disease_arises_from_structure			owl:ObjectProperty
RO:0002451	biolink:NamedThing	transmitted by		mondoexuq1wtf												RO:0002451|RO:0002451															transmitted_by|transmitted_by			owl:ObjectProperty
RO:0004028	biolink:NamedThing	realized in response to stimulus		mondoexuq1wtf												RO:0004028|RO:0004028															realized_in_response_to_stimulus|realized_in_response_to_stimulus			owl:ObjectProperty
disease_triggers	biolink:NamedThing	disease triggers		mondoexuq1wtf																														owl:ObjectProperty
RO:0004026	biolink:NamedThing	disease has location		mondoexuq1wtf												RO:0004026|RO:0004026															disease_has_location|disease_has_location			owl:ObjectProperty
RO:0004025	biolink:NamedThing	disease causes dysfunction of		mondoexuq1wtf												RO:0004025|RO:0004025															disease_causes_dysfunction_of|disease_causes_dysfunction_of			owl:ObjectProperty
disease_responds_to	biolink:NamedThing	disease responds to		mondoexuq1wtf																														owl:ObjectProperty
disease_shares_features_of	biolink:NamedThing	disease shares features of		mondoexuq1wtf																														owl:ObjectProperty
realized_in	biolink:NamedThing	realized in		mondoexuq1wtf												BFO:0000054|BFO:0000054															realized_in|realized_in			owl:ObjectProperty
OBO:mondo#has_onset	biolink:NamedThing	has onset		mondoexuq1wtf																														owl:ObjectProperty
RO:0009501	biolink:NamedThing	realized in response to		mondoexuq1wtf												RO:0009501|RO:0009501															realized_in_response_to|realized_in_response_to			owl:ObjectProperty
RO:0004027	biolink:NamedThing	disease has inflammation site		mondoexuq1wtf												RO:0004027|RO:0004027															disease_has_inflammation_site|disease_has_inflammation_site			owl:ObjectProperty
RO:0002573	biolink:NamedThing	has modifier		mondoexuq1wtf												RO:0002573|RO:0002573															has_modifier|has_modifier			owl:ObjectProperty
disease_has_basis_in_accumulation_of	biolink:NamedThing	disease has basis in accumulation of		mondoexuq1wtf																														owl:ObjectProperty
part_of_progression_of_disease	biolink:NamedThing	part of progression of disease		mondoexuq1wtf																														owl:ObjectProperty
MONDO:0022495	biolink:NamedThing	obsolete arthritis short stature deafness		mondoexuq1wtf		https://github.com/monarch-initiative/mondo/issues/141				This term was found in the globalgenes.org rare disease list, but no information could be found about it.				True		GARD:0000775																		owl:Class
MONDO:0044680	biolink:NamedThing	obsolete short rib-polydactyly syndrome type 5		mondoexuq1wtf		terms merged		MONDO:0013569						True																https://github.com/monarch-initiative/mondo/issues/2806				owl:Class
MONDO:0000846	biolink:NamedThing	obsolete craniodiaphyseal dysplasia		mondoexuq1wtf				MONDO:0009031						True																				owl:Class
MONDO:0003270	biolink:NamedThing	obsolete ganglioglioma		mondoexuq1wtf				MONDO:0016733						True																				owl:Class
MONDO:0022512	biolink:NamedThing	obsolete atrial septal defect coronary sinus		mondoexuq1wtf				MONDO:0020435		Duplicate.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0015242	biolink:NamedThing	obsolete aspergillosis		mondoexuq1wtf				MONDO:0005657						True																				owl:Class
MONDO:0002607	biolink:NamedThing	obsolete lymphangioleiomyomatosis		mondoexuq1wtf				MONDO:0011705						True																				owl:Class
MONDO:0005403	biolink:NamedThing	obsolete neonatal systemic lupus erthematosus		mondoexuq1wtf				MONDO:0018360						True																				owl:Class
MONDO:0008415	biolink:NamedThing	obsolete Scholte syndrome		mondoexuq1wtf				MONDO:0010505		Replaced by https://omim.org/entry/300977 in OMIM				True																				owl:Class
MONDO:0005816	biolink:NamedThing	obsolete Japanese encephalitis		mondoexuq1wtf				MONDO:0019209						True																				owl:Class
MONDO:0006454	biolink:NamedThing	obsolete thymic squamous cell carcinoma	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	mondoexuq1wtf				MONDO:0003493						True																				owl:Class
MONDO:0016076	biolink:NamedThing	obsolete lymphatic filariasis		mondoexuq1wtf				MONDO:0005761						True																https://github.com/monarch-initiative/mondo/issues/842				owl:Class
MONDO:0003974	biolink:NamedThing	obsolete malignant triton tumor		mondoexuq1wtf				MONDO:0016757						True																				owl:Class
MONDO:0000580	biolink:NamedThing	obsolete CD40 ligand deficiency		mondoexuq1wtf				MONDO:0010626						True																				owl:Class
MONDO:0013804	biolink:NamedThing	obsolete intellectual disability, autosomal dominant 12		mondoexuq1wtf				MONDO:0007617		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/1709				owl:Class
MONDO:0001961	biolink:NamedThing	obsolete glossopharyngeal neuralgia		mondoexuq1wtf				MONDO:0016372						True																				owl:Class
MONDO:0017679	biolink:NamedThing	obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature		mondoexuq1wtf	autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature	MONDO:outOfScope				This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature.	UMLS:CN203566|Orphanet:308031			True																https://github.com/monarch-initiative/mondo/pull/2317|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MONDO:0018099	biolink:NamedThing	obsolete Whipple disease		mondoexuq1wtf				MONDO:0005116						True																				owl:Class
MONDO:0018452	biolink:NamedThing	obsolete deficiency of the interleukin-36 receptor antagonist		mondoexuq1wtf		terms merged		MONDO:0013626						True																https://github.com/monarch-initiative/mondo/issues/2829				owl:Class
MONDO:0006310	biolink:NamedThing	obsolete mucinuos carcinoma		mondoexuq1wtf				MONDO:0004957						True																				owl:Class
MONDO:0000071	biolink:NamedThing	obsolete myopathy, myofibrillar		mondoexuq1wtf				MONDO:0018943			OMIMPS:601419			True		DC:0000305																		owl:Class
MONDO:0003794	biolink:NamedThing	obsolete mediastinal neurilemmoma		mondoexuq1wtf				MONDO:0004398						True																				owl:Class
MONDO:0018238	biolink:NamedThing	obsolete rare bone disease related to a common gene or pathway defect		mondoexuq1wtf				MONDO:0005381		This is a grouping term that is probably not used clinically.				True																https://github.com/monarch-initiative/mondo/issues/1726				owl:Class
MONDO:0006331	biolink:NamedThing	obsolete ovarian carcinosarcoma		mondoexuq1wtf				MONDO:0003792						True																				owl:Class
MONDO:0002753	biolink:NamedThing	obsolete mucinous stomach adenocarcinoma		mondoexuq1wtf				MONDO:0006309						True																				owl:Class
MONDO:0005442	biolink:NamedThing	obsolete type 1 diabetes nephropathy		mondoexuq1wtf		terms merged		MONDO:0005016						True																https://github.com/monarch-initiative/mondo/issues/3277				owl:Class
MONDO:0000195	biolink:NamedThing	obsolete atrial standstill		mondoexuq1wtf				MONDO:0015281						True																				owl:Class
MONDO:0000061	biolink:NamedThing	obsolete microcephaly, primary, autosomal recessive		mondoexuq1wtf				MONDO:0016660						True																				owl:Class
MONDO:0015747	biolink:NamedThing	obsolete Amish infantile epilepsy syndrome		mondoexuq1wtf				MONDO:0012189						True																				owl:Class
MONDO:0015258	biolink:NamedThing	obsolete botulism		mondoexuq1wtf				MONDO:0005498						True																				owl:Class
MONDO:0000168	biolink:NamedThing	obsolete mental retardation, X-linked, nonsyndromic		mondoexuq1wtf				MONDO:0019181						True																				owl:Class
MONDO:0000053	biolink:NamedThing	obsolete macroglobulinemia, Waldenstrom		mondoexuq1wtf										True																				owl:Class
MONDO:0015154	biolink:NamedThing	obsolete rickettsial disease		mondoexuq1wtf				MONDO:0006956						True																				owl:Class
MONDO:0000574	biolink:NamedThing	obsolete CD45 deficiency		mondoexuq1wtf				MONDO:0015702						True																				owl:Class
MONDO:0010513	biolink:NamedThing	obsolete intellectual disability, X-linked, syndromic, Borck type		mondoexuq1wtf				MONDO:0010258		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/1693				owl:Class
MONDO:0016084	biolink:NamedThing	obsolete Crigler-Najjar syndrome		mondoexuq1wtf				MONDO:0009044						True																				owl:Class
MONDO:0006099	biolink:NamedThing	obsolete B-cell prolymphocytic leukemia		mondoexuq1wtf				MONDO:0019461						True																				owl:Class
MONDO:0016640	biolink:NamedThing	obsolete fibrous dysplasia of bone		mondoexuq1wtf				MONDO:0000845		Appears to be same concept as MONDO:0000845, fibrous dysplasia.				True																https://github.com/monarch-initiative/mondo/issues/2462				owl:Class
MONDO:0002925	biolink:NamedThing	obsolete extraosseous Ewing's sarcoma		mondoexuq1wtf				MONDO:0018270						True																				owl:Class
MONDO:0005389	biolink:NamedThing	obsolete sclerosing cholangitis		mondoexuq1wtf				MONDO:0018646						True																				owl:Class
MONDO:0003961	biolink:NamedThing	obsolete cervical large cell neuroendocrine carcinoma		mondoexuq1wtf				MONDO:0006138						True																				owl:Class
MONDO:0018707	biolink:NamedThing	obsolete clear cell sarcoma of kidney		mondoexuq1wtf				MONDO:0005006						True																				owl:Class
MONDO:0004589	biolink:NamedThing	obsolete hereditary retinal dystrophy		mondoexuq1wtf				MONDO:0019118						True																				owl:Class
MONDO:0004688	biolink:NamedThing	obsolete sideroblastic anemia		mondoexuq1wtf				MONDO:0015194						True																				owl:Class
MONDO:0018275	biolink:NamedThing	obsolete salt and pepper syndrome		mondoexuq1wtf				MONDO:0018274		This term was obsoleted from the source ontologies.				True																https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082				owl:Class
MONDO:0020566	biolink:NamedThing	obsolete Klatskin tumor		mondoexuq1wtf				MONDO:0003345						True																				owl:Class
MONDO:0003451	biolink:NamedThing	obsolete laryngeal neuroendocrine tumor		mondoexuq1wtf				MONDO:0015070						True																				owl:Class
MONDO:0018345	biolink:NamedThing	obsolete T+ B+ severe combined immunodeficiency		mondoexuq1wtf							MONDO:0044201|MONDO:0044200			True																				owl:Class
MONDO:0004711	biolink:NamedThing	obsolete amyloidosis		mondoexuq1wtf	obsolete amyloidosis (disease)		obsolete amyloidosis (disease)	MONDO:0019065						True																				owl:Class
MONDO:0000905	biolink:NamedThing	obsolete cortisone reductase deficiency		mondoexuq1wtf				MONDO:0000193						True																				owl:Class
MONDO:0006529	biolink:NamedThing	obsolete bullous skin disease		mondoexuq1wtf				MONDO:0019337						True																				owl:Class
MONDO:0000041	biolink:NamedThing	obsolete hyperphosphatasia with mental retardation syndrome		mondoexuq1wtf				MONDO:0016596						True		DC:0000203																		owl:Class
MONDO:0000399	biolink:NamedThing	obsolete dyskinetic cerebral palsy		mondoexuq1wtf				MONDO:0022697						True																				owl:Class
MONDO:0003457	biolink:NamedThing	obsolete ovarian serous adenofibroma		mondoexuq1wtf				MONDO:0006340						True																				owl:Class
MONDO:0009078	biolink:NamedThing	obsolete Jervell and Lange-Nielsen syndrome		mondoexuq1wtf		terms merged		MONDO:0002441						True																https://github.com/monarch-initiative/mondo/issues/3073				owl:Class
MONDO:0000123	biolink:NamedThing	obsolete factor V and Factor VIII, combined deficiency of		mondoexuq1wtf				MONDO:0018175						True																				owl:Class
MONDO:0002902	biolink:NamedThing	obsolete pseudohypoparathyroidism		mondoexuq1wtf				MONDO:0019992						True																				owl:Class
MONDO:0016720	biolink:NamedThing	obsolete atypical papilloma of choroid plexus		mondoexuq1wtf				MONDO:0002684						True																				owl:Class
MONDO:0000832	biolink:NamedThing	obsolete myeloid neoplasm		mondoexuq1wtf				MONDO:0005170						True																				owl:Class
MONDO:0001194	biolink:NamedThing	obsolete rickettsialpox		mondoexuq1wtf				MONDO:0019360						True																				owl:Class
MONDO:0002506	biolink:NamedThing	obsolete early myoclonic encephalopathy		mondoexuq1wtf				MONDO:0016022						True																				owl:Class
MONDO:0006942	biolink:NamedThing	obsolete reflex epilepsy		mondoexuq1wtf				MONDO:0017768						True																				owl:Class
MONDO:0005237	biolink:NamedThing	obsolete pleomorphic liposarcoma		mondoexuq1wtf				MONDO:0020562						True																				owl:Class
MONDO:0002838	biolink:NamedThing	obsolete spindle cell carcinoma		mondoexuq1wtf				MONDO:0006406						True																				owl:Class
MONDO:0006136	biolink:NamedThing	obsolete cervical endometrioid adenocarcinoma		mondoexuq1wtf										True																				owl:Class
MONDO:0018196	biolink:NamedThing	obsolete germ cell tumor of testis		mondoexuq1wtf				MONDO:0010108						True																				owl:Class
MONDO:0015684	biolink:NamedThing	obsolete malignant peritoneal mesothelioma		mondoexuq1wtf				MONDO:0005512						True																				owl:Class
MONDO:0002498	biolink:NamedThing	obsolete glioblastoma multiforme		mondoexuq1wtf	obsolete glioblastoma multiforme (disease)		obsolete glioblastoma multiforme (disease)	MONDO:0018177						True																				owl:Class
MONDO:0024597	biolink:NamedThing	obsolete CD3epsilon deficiency		mondoexuq1wtf				MONDO:0014278						True																				owl:Class
MONDO:0004776	biolink:NamedThing	obsolete infectious anterior uveitis		mondoexuq1wtf				MONDO:0017210						True																				owl:Class
MONDO:0002985	biolink:NamedThing	obsolete pustulosis of palm and sole		mondoexuq1wtf				MONDO:0015597						True																				owl:Class
MONDO:0000013	biolink:NamedThing	obsolete choroidal dystrophy		mondoexuq1wtf				MONDO:0008982						True																				owl:Class
MONDO:0000735	biolink:NamedThing	obsolete oculodentodigital dysplasia		mondoexuq1wtf				MONDO:0008111						True																				owl:Class
MONDO:0006719	biolink:NamedThing	obsolete cystic lymphangioma		mondoexuq1wtf				MONDO:0009761						True																https://github.com/monarch-initiative/mondo/issues/395				owl:Class
MONDO:0002024	biolink:NamedThing	obsolete cholera		mondoexuq1wtf				MONDO:0015766						True																				owl:Class
MONDO:0017959	biolink:NamedThing	obsolete JMP syndrome		mondoexuq1wtf				MONDO:0009726						True																				owl:Class
MONDO:0019051	biolink:NamedThing	obsolete lysosomal disease		mondoexuq1wtf				MONDO:0002561						True																				owl:Class
MONDO:0021087	biolink:NamedThing	obsolete malignant granular cell myoblastoma		mondoexuq1wtf				MONDO:0003252						True																				owl:Class
MONDO:0024254	biolink:NamedThing	obsolete vibratory angioedema		mondoexuq1wtf				MONDO:0008657						True																				owl:Class
MONDO:0022314	biolink:NamedThing	obsolete Hernandez Aguirre-Negrete syndrome		mondoexuq1wtf				MONDO:0016290						True																				owl:Class
MONDO:0013676	biolink:NamedThing	obsolete hypermethioninemia due to adenosine kinase deficiency		mondoexuq1wtf				MONDO:0100255		Replaced this term with a new term with a new label.				True																https://github.com/monarch-initiative/mondo/issues/2587				owl:Class
MONDO:0001267	biolink:NamedThing	obsolete Lemierre syndrome		mondoexuq1wtf	obsolete Lemierre's syndrome			MONDO:0015306						True																				owl:Class
MONDO:0001970	biolink:NamedThing	obsolete hypokalemic periodic paralysis		mondoexuq1wtf				MONDO:0008223						True																				owl:Class
MONDO:0002600	biolink:NamedThing	obsolete mixed germ cell cancer		mondoexuq1wtf				MONDO:0015864						True																				owl:Class
MONDO:0000197	biolink:NamedThing	obsolete singleton-Merten syndrome		mondoexuq1wtf				MONDO:0008429						True																				owl:Class
MONDO:0024289	biolink:NamedThing	obsolete disorder of bilirubin metabolism		mondoexuq1wtf				MONDO:0017755						True																				owl:Class
MONDO:0000174	biolink:NamedThing	obsolete split-hand/foot malformation with long bone deficiency		mondoexuq1wtf										True																				owl:Class
MONDO:0002699	biolink:NamedThing	obsolete pancreatic ductal carcinoma		mondoexuq1wtf				MONDO:0005184						True																				owl:Class
MONDO:0000765	biolink:NamedThing	obsolete corneal stromal dystrophy		mondoexuq1wtf				MONDO:0020213						True																				owl:Class
MONDO:0000184	biolink:NamedThing	obsolete congenital vitamin K-dependent coagulation factors combined deficiency		mondoexuq1wtf				MONDO:0015722						True																https://github.com/monarch-initiative/mondo/issues/400				owl:Class
MONDO:0005064	biolink:NamedThing	obsolete infectious meningitis		mondoexuq1wtf				MONDO:0004796						True																				owl:Class
MONDO:0019135	biolink:NamedThing	obsolete paracoccidioidomycosis		mondoexuq1wtf				MONDO:0005894						True																				owl:Class
MONDO:0019185	biolink:NamedThing	obsolete rhabdomyosarcoma		mondoexuq1wtf	obsolete rhabdomyosarcoma (disease)		obsolete rhabdomyosarcoma (disease)	MONDO:0005212						True																				owl:Class
MONDO:0016569	biolink:NamedThing	obsolete rare lymphatic malformation		mondoexuq1wtf				MONDO:0002013						True																https://github.com/monarch-initiative/mondo/issues/416|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0007897	biolink:NamedThing	obsolete leukemia, chronic lymphocytic		mondoexuq1wtf				MONDO:0004948						True																				owl:Class
MONDO:0000113	biolink:NamedThing	obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome		mondoexuq1wtf										True		DC:0000490																		owl:Class
MONDO:0004602	biolink:NamedThing	obsolete polymyalgia rheumatica		mondoexuq1wtf				MONDO:0019735						True																				owl:Class
MONDO:0000025	biolink:NamedThing	obsolete familial cold autoinflammatory syndrome		mondoexuq1wtf				MONDO:0018768						True																				owl:Class
MONDO:0000081	biolink:NamedThing	obsolete ovarian dysgenesis		mondoexuq1wtf				MONDO:0009299						True		DC:0000345																		owl:Class
MONDO:0000885	biolink:NamedThing	obsolete cloacal exstrophy		mondoexuq1wtf				MONDO:0009774						True																				owl:Class
MONDO:0009304	biolink:NamedThing	obsolete Gorlin-Chaudhry-Moss syndrome		mondoexuq1wtf				MONDO:0012853		OMIM merged these terms				True																https://github.com/monarch-initiative/mondo/issues/1685				owl:Class
MONDO:0005529	biolink:NamedThing	obsolete methylmalonic aciduria and homocystinuria type cblG		mondoexuq1wtf				MONDO:0009609						True																				owl:Class
MONDO:0001278	biolink:NamedThing	obsolete adult respiratory distress syndrome	A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.	mondoexuq1wtf				MONDO:0006502						True																				owl:Class
MONDO:0001839	biolink:NamedThing	obsolete interstitial cystitis		mondoexuq1wtf				MONDO:0018301						True																				owl:Class
MONDO:0003309	biolink:NamedThing	obsolete pleural cancer		mondoexuq1wtf				MONDO:0006294						True																				owl:Class
MONDO:0015676	biolink:NamedThing	obsolete hyperandrogenism due to cortisone reductase deficiency		mondoexuq1wtf				MONDO:0000193						True																				owl:Class
MONDO:0000101	biolink:NamedThing	obsolete tumoral calcinosis		mondoexuq1wtf				MONDO:0018891						True																				owl:Class
MONDO:0018194	biolink:NamedThing	obsolete sex cord-stromal tumor of testis		mondoexuq1wtf				MONDO:0003125						True																				owl:Class
MONDO:0016246	biolink:NamedThing	obsolete adenocarcinoma of ovary		mondoexuq1wtf				MONDO:0002752						True																				owl:Class
MONDO:0019523	biolink:NamedThing	obsolete Walker-Warburg syndrome		mondoexuq1wtf				MONDO:0000171		These are considered equivalent in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/1223				owl:Class
MONDO:0019481	biolink:NamedThing	obsolete follicular dendritic cell sarcoma		mondoexuq1wtf				MONDO:0005764						True																				owl:Class
MONDO:0005014	biolink:NamedThing	obsolete dermatomyositis	Inflammation of the skin and muscle.	mondoexuq1wtf				MONDO:0016367						True																				owl:Class
MONDO:0000352	biolink:NamedThing	obsolete hereditary sensory neuropathy		mondoexuq1wtf				MONDO:0015364						True																				owl:Class
MONDO:0010624	biolink:NamedThing	obsolete IFAP/BRESHECK syndrome		mondoexuq1wtf				MONDO:0100213		Split this term and added OMIM phenotypic series as a parent.				True																				owl:Class
MONDO:0010346	biolink:NamedThing	obsolete MRX52		mondoexuq1wtf				MONDO:0010317		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/2329				owl:Class
MONDO:0000350	biolink:NamedThing	obsolete Charcot-Marie-Tooth disease intermediate type		mondoexuq1wtf				MONDO:0018778						True																				owl:Class
MONDO:0016245	biolink:NamedThing	obsolete ovarian cancer		mondoexuq1wtf				MONDO:0008170						True																				owl:Class
MONDO:0006017	biolink:NamedThing	obsolete western equine encephalitis		mondoexuq1wtf				MONDO:0019380						True																				owl:Class
MONDO:0001981	biolink:NamedThing	obsolete cholesterol ester storage disease		mondoexuq1wtf				MONDO:0019149						True																				owl:Class
MONDO:0010249	biolink:NamedThing	obsolete X-linked B cell surface antigen, mouse, homolog-like 1		mondoexuq1wtf										True																				owl:Class
MONDO:0007611	biolink:NamedThing	obsolete Zimmermann-Laband syndrome		mondoexuq1wtf				MONDO:0000200						True																				owl:Class
MONDO:0000103	biolink:NamedThing	obsolete Wilms tumor		mondoexuq1wtf				MONDO:0019004						True																				owl:Class
MONDO:0000094	biolink:NamedThing	obsolete spherocytosis		mondoexuq1wtf	spherocytosis|obsolete spherocytosis (disease)		obsolete spherocytosis (disease)							True		DC:0000412|HP:0004444																		owl:Class
MONDO:0003823	biolink:NamedThing	obsolete transient hypogammaglobulinemia of infancy		mondoexuq1wtf				MONDO:0015698						True																				owl:Class
MONDO:0006818	biolink:NamedThing	obsolete keratoconjunctivitis sicca		mondoexuq1wtf				MONDO:0006733						True																				owl:Class
MONDO:0006453	biolink:NamedThing	obsolete thymic small cell carcinoma	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	mondoexuq1wtf				MONDO:0004122						True																				owl:Class
MONDO:0006501	biolink:NamedThing	obsolete inflammatory skin disease		mondoexuq1wtf				MONDO:0002406		Duplicate				True																https://github.com/monarch-initiative/mondo/issues/377				owl:Class
MONDO:0001189	biolink:NamedThing	obsolete esophageal carcinoma		mondoexuq1wtf				MONDO:0019086						True																				owl:Class
MONDO:0006204	biolink:NamedThing	obsolete extramammary Paget disease		mondoexuq1wtf				MONDO:0008177						True																				owl:Class
MONDO:0017099	biolink:NamedThing	obsolete facioscapulohumeral dystrophy		mondoexuq1wtf				MONDO:0001347						True																				owl:Class
MONDO:0004968	biolink:NamedThing	obsolete acute myelomonocytic leukemia		mondoexuq1wtf				MONDO:0018871						True																				owl:Class
MONDO:0004391	biolink:NamedThing	obsolete adult extraosseous chondrosarcoma	A extraosseous chondrosarcoma that occurs in an adult.	mondoexuq1wtf	extraosseous chondrosarcoma of adults					NCIt recommended obsoletion of the parent class.	MONDO:0012825			True		DOID:7902														https://github.com/monarch-initiative/mondo/issues/388				owl:Class
MONDO:0003491	biolink:NamedThing	obsolete rectum squamous cell carcinoma		mondoexuq1wtf				MONDO:0018515						True																				owl:Class
MONDO:0015080	biolink:NamedThing	obsolete thymic tumor		mondoexuq1wtf				MONDO:0005197						True																				owl:Class
MONDO:0005540	biolink:NamedThing	obsolete rectal adenocarcinoma		mondoexuq1wtf				MONDO:0002169						True																				owl:Class
MONDO:0000657	biolink:NamedThing	obsolete gamma heavy chain disease		mondoexuq1wtf				MONDO:0015046						True																				owl:Class
MONDO:0001581	biolink:NamedThing	obsolete tolosa-hunt syndrome		mondoexuq1wtf				MONDO:0018983						True																				owl:Class
MONDO:0004395	biolink:NamedThing	obsolete mixed oligodendroglioma-astrocytoma		mondoexuq1wtf				MONDO:0016702						True																				owl:Class
MONDO:0000360	biolink:NamedThing	obsolete 2-hydroxyglutaric aciduria		mondoexuq1wtf				MONDO:0016001						True																				owl:Class
MONDO:0000760	biolink:NamedThing	obsolete acrofacial dysostosis		mondoexuq1wtf				MONDO:0018237						True																				owl:Class
MONDO:0004912	biolink:NamedThing	obsolete muscular dystrophy		mondoexuq1wtf				MONDO:0020121						True																				owl:Class
MONDO:0006431	biolink:NamedThing	obsolete splenic marginal zone lymphoma		mondoexuq1wtf				MONDO:0019462						True																				owl:Class
MONDO:0003101	biolink:NamedThing	obsolete intraneural perineurioma		mondoexuq1wtf				MONDO:0015032						True																				owl:Class
MONDO:0002767	biolink:NamedThing	obsolete protein C deficiency	A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.	mondoexuq1wtf				MONDO:0019145						True																				owl:Class
MONDO:0019495	biolink:NamedThing	obsolete yolk sac tumor		mondoexuq1wtf				MONDO:0005744						True																				owl:Class
MONDO:0007196	biolink:NamedThing	obsolete bladder cancer		mondoexuq1wtf				MONDO:0001187		OMIM references Orphanet:157980 but this does not exist				True																				owl:Class
MONDO:0016753	biolink:NamedThing	obsolete benign schwannoma		mondoexuq1wtf				MONDO:0002546						True																				owl:Class
MONDO:0017982	biolink:NamedThing	obsolete humeroradial synostosis		mondoexuq1wtf				MONDO:0009356						True																				owl:Class
MONDO:0008646	biolink:NamedThing	obsolete long QT syndrome 1		mondoexuq1wtf		terms merged		MONDO:0100316						True																https://github.com/monarch-initiative/mondo/issues/2330				owl:Class
MONDO:0002906	biolink:NamedThing	obsolete scleroderma		mondoexuq1wtf				MONDO:0019340						True																				owl:Class
MONDO:0016300	biolink:NamedThing	obsolete transposition of the great arteries		mondoexuq1wtf				MONDO:0000153						True																				owl:Class
MONDO:0003013	biolink:NamedThing	obsolete pseudohypoaldosteronism		mondoexuq1wtf				MONDO:0018638						True																				owl:Class
MONDO:0000713	biolink:NamedThing	obsolete Balo concentric sclerosis		mondoexuq1wtf				MONDO:0016430						True																				owl:Class
OBO:mondo#may_be_merged_into	biolink:NamedThing	may_be_merged_into		mondoexuq1wtf																True														owl:AnnotationProperty
MONDO:0002091	biolink:NamedThing	obsolete cryptosporidiosis		mondoexuq1wtf				MONDO:0015474						True																				owl:Class
MONDO:0022918	biolink:NamedThing	obsolete cytokine deficiency	A disease that has its basis in the disruption of cytokine activity.	mondoexuq1wtf	cytokine activity disease|disorder of cytokine activity					No children, was added to mirror existing term, there is no info in GARD and GARD plans to obsolete this term.	HP:0011112			True		GARD:0009529														https://github.com/monarch-initiative/mondo/issues/1576				owl:Class
MONDO:0005329	biolink:NamedThing	obsolete vascular sarcoma	A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.	mondoexuq1wtf	blood vessel sarcoma			MONDO:0016982						True																				owl:Class
MONDO:0018372	biolink:NamedThing	obsolete osteonecrosis		mondoexuq1wtf				MONDO:0005380						True																				owl:Class
MONDO:0002180	biolink:NamedThing	obsolete gestational choriocarcinoma		mondoexuq1wtf				MONDO:0020550						True																				owl:Class
MONDO:0003080	biolink:NamedThing	obsolete indolent systemic mastocytosis		mondoexuq1wtf				MONDO:0020331						True																				owl:Class
MONDO:0006319	biolink:NamedThing	obsolete nevus of Ota		mondoexuq1wtf				MONDO:0016984						True																				owl:Class
MONDO:0015156	biolink:NamedThing	obsolete typhus-group rickettsiosis		mondoexuq1wtf				MONDO:0001246						True																				owl:Class
MONDO:0006338	biolink:NamedThing	obsolete ovarian germ cell tumor		mondoexuq1wtf				MONDO:0011366						True																				owl:Class
MONDO:0000404	biolink:NamedThing	obsolete cell type cancer		mondoexuq1wtf				MONDO:0004992						True																				owl:Class
MONDO:0006445	biolink:NamedThing	obsolete testicular choriocarcinoma	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	mondoexuq1wtf				MONDO:0003508						True																				owl:Class
MONDO:0003536	biolink:NamedThing	obsolete fallopian tube serous adenocarcinoma		mondoexuq1wtf				MONDO:0006208						True																				owl:Class
MONDO:0019492	biolink:NamedThing	obsolete desmoid tumor		mondoexuq1wtf				MONDO:0007608						True																				owl:Class
MONDO:0015996	biolink:NamedThing	obsolete systemic capillary leak syndrome		mondoexuq1wtf				MONDO:0001956						True																				owl:Class
MONDO:0006341	biolink:NamedThing	obsolete ovarian small cell carcinoma		mondoexuq1wtf				MONDO:0003795						True																				owl:Class
MONDO:0001289	biolink:NamedThing	obsolete endometriosis of ovary		mondoexuq1wtf				MONDO:0006337						True																				owl:Class
MONDO:0000712	biolink:NamedThing	obsolete FTDALS		mondoexuq1wtf				MONDO:0017161		duplicate				True																https://github.com/monarch-initiative/mondo/issues/1902				owl:Class
MONDO:0001344	biolink:NamedThing	obsolete neonatal diabetes mellitus		mondoexuq1wtf				MONDO:0016391						True																				owl:Class
MONDO:0023037	biolink:NamedThing	obsolete elongated styloid process syndrome		mondoexuq1wtf				MONDO:0023035						True																				owl:Class
MONDO:0005107	biolink:NamedThing	obsolete hepatocellular adenoma		mondoexuq1wtf				MONDO:0018902						True																				owl:Class
MONDO:0003981	biolink:NamedThing	obsolete cervix small cell carcinoma		mondoexuq1wtf				MONDO:0006142						True																				owl:Class
MONDO:0015309	biolink:NamedThing	obsolete Auriculocondylar syndrome		mondoexuq1wtf				MONDO:0000107						True																				owl:Class
MONDO:0002094	biolink:NamedThing	obsolete conjunctival squamous cell carcinoma		mondoexuq1wtf				MONDO:0006173						True																				owl:Class
MONDO:0013701	biolink:NamedThing	obsolete MRT32		mondoexuq1wtf				MONDO:0016396		Obsoleted in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/1708				owl:Class
MONDO:0006342	biolink:NamedThing	obsolete ovarian squamous cell carcinoma		mondoexuq1wtf				MONDO:0003494						True																				owl:Class
MONDO:0005360	biolink:NamedThing	obsolete Dupuytren contracture		mondoexuq1wtf	obsolete Dupuytren contracture (disease)		obsolete Dupuytren contracture (disease)	MONDO:0006345						True																				owl:Class
MONDO:0012647	biolink:NamedThing	obsolete generalized epilepsy with febrile seizures plus, type 3		mondoexuq1wtf				MONDO:0011891						True																				owl:Class
MONDO:0000035	biolink:NamedThing	obsolete glucocorticoid deficiency		mondoexuq1wtf										True																				owl:Class
MONDO:0004823	biolink:NamedThing	obsolete dextrocardia		mondoexuq1wtf				MONDO:0015661						True																				owl:Class
MONDO:0000191	biolink:NamedThing	obsolete renal hypodysplasia/aplasia		mondoexuq1wtf										True																				owl:Class
MONDO:0016737	biolink:NamedThing	obsolete ganglioneuroma		mondoexuq1wtf				MONDO:0005033						True																				owl:Class
MONDO:0000099	biolink:NamedThing	obsolete trichoepithelioma, multiple familial		mondoexuq1wtf										True																				owl:Class
MONDO:0015670	biolink:NamedThing	obsolete cardiomyopathy		mondoexuq1wtf				MONDO:0004994						True																				owl:Class
MONDO:0000695	biolink:NamedThing	obsolete histidinemia		mondoexuq1wtf				MONDO:0009345						True																				owl:Class
MONDO:0000098	biolink:NamedThing	obsolete thyrotoxic periodic paralysis		mondoexuq1wtf				MONDO:0019201						True																				owl:Class
MONDO:0010845	biolink:NamedThing	obsolete macrothrombocytopenia and progressive sensorineural deafness		mondoexuq1wtf				MONDO:0007954						True																				owl:Class
MONDO:0001483	biolink:NamedThing	obsolete Crimean-Congo hemorrhagic fever		mondoexuq1wtf				MONDO:0020501						True																				owl:Class
MONDO:0004954	biolink:NamedThing	obsolete malt lymphoma		mondoexuq1wtf				MONDO:0007650						True																				owl:Class
MONDO:0003559	biolink:NamedThing	obsolete cervical adenosquamous carcinoma		mondoexuq1wtf				MONDO:0006134						True																				owl:Class
MONDO:0001570	biolink:NamedThing	obsolete locked-in syndrome		mondoexuq1wtf				MONDO:0016567						True																				owl:Class
MONDO:0000562	biolink:NamedThing	obsolete hypomyelinating leukoencephalopathy		mondoexuq1wtf										True																				owl:Class
MONDO:0007613	biolink:NamedThing	obsolete fibromuscular dysplasia of arteries		mondoexuq1wtf				MONDO:0006761						True																				owl:Class
MONDO:0000027	biolink:NamedThing	obsolete epilepsy, absence		mondoexuq1wtf										True																				owl:Class
MONDO:0000258	biolink:NamedThing	obsolete intestinal botulism		mondoexuq1wtf				MONDO:0015805						True																				owl:Class
MONDO:0019566	biolink:NamedThing	obsolete Klippel-Trenaunay syndrome		mondoexuq1wtf				MONDO:0007864						True																				owl:Class
MONDO:0002023	biolink:NamedThing	obsolete cystic echinococcosis		mondoexuq1wtf				MONDO:0018408						True																				owl:Class
MONDO:0000522	biolink:NamedThing	obsolete inflammatory myofibroblastic tumor		mondoexuq1wtf				MONDO:0015798						True																				owl:Class
MONDO:0018726	biolink:NamedThing	obsolete immunodeficiency due to a complement cascade component deficiency		mondoexuq1wtf				MONDO:0003832						True																				owl:Class
MONDO:0002964	biolink:NamedThing	obsolete non-Langerhans-cell histiocytosis		mondoexuq1wtf				MONDO:0015531						True																				owl:Class
MONDO:0007703	biolink:NamedThing	obsolete heart, malformation of		mondoexuq1wtf				MONDO:0009327						True																				owl:Class
MONDO:0000855	biolink:NamedThing	obsolete acromesomelic dysplasia		mondoexuq1wtf				MONDO:0019696						True																				owl:Class
MONDO:0021909	biolink:NamedThing	obsolete aplasia cutis congenita recessive		mondoexuq1wtf		https://github.com/monarch-initiative/mondo/issues/141		MONDO:0007145						True																				owl:Class
MONDO:0016388	biolink:NamedThing	obsolete bone sarcoma		mondoexuq1wtf				MONDO:0021054						True																				owl:Class
MONDO:0005686	biolink:NamedThing	obsolete Bunyaviridae infectious disease		mondoexuq1wtf				MONDO:0021641						True																				owl:Class
MONDO:0013958	biolink:NamedThing	obsolete monocyte and dendritic cell deficiency, autosomal recessive		mondoexuq1wtf				MONDO:0009194		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1710				owl:Class
MONDO:0012649	biolink:NamedThing	obsolete FTSD		mondoexuq1wtf				MONDO:0044871						True																				owl:Class
MONDO:0005653	biolink:NamedThing	obsolete asbestosis		mondoexuq1wtf				MONDO:0016466						True																				owl:Class
MONDO:0005000	biolink:NamedThing	obsolete chromophobe renal cell carcinoma		mondoexuq1wtf				MONDO:0017885						True																				owl:Class
MONDO:0005285	biolink:NamedThing	obsolete kidney stone		mondoexuq1wtf				MONDO:0008171						True																				owl:Class
MONDO:0017125	biolink:NamedThing	obsolete oculofaciocardiodental syndrome		mondoexuq1wtf		terms merged		MONDO:0010261						True																https://github.com/monarch-initiative/mondo/issues/2691				owl:Class
MONDO:0014812	biolink:NamedThing	obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		mondoexuq1wtf		terms merged		MONDO:0018820						True																https://github.com/monarch-initiative/mondo/issues/3089				owl:Class
MONDO:0004908	biolink:NamedThing	obsolete galactosemia		mondoexuq1wtf				MONDO:0018116						True																				owl:Class
MONDO:0004470	biolink:NamedThing	obsolete osteochondrosis		mondoexuq1wtf				MONDO:0018381						True																				owl:Class
MONDO:0000829	biolink:NamedThing	obsolete early-onset Parkinson disease		mondoexuq1wtf				MONDO:0017279						True																				owl:Class
MONDO:0005370	biolink:NamedThing	obsolete interstitial lung disease		mondoexuq1wtf				MONDO:0015925						True																				owl:Class
MONDO:0012070	biolink:NamedThing	obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G		mondoexuq1wtf				MONDO:0013753		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1701				owl:Class
MONDO:0006943	biolink:NamedThing	obsolete relapsing polychondritis		mondoexuq1wtf				MONDO:0019125						True																				owl:Class
MONDO:0002575	biolink:NamedThing	obsolete prostate rhabdomyosarcoma		mondoexuq1wtf				MONDO:0006389						True																				owl:Class
MONDO:0021683	biolink:NamedThing	obsolete transmissible disease	OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process.	mondoexuq1wtf							MONDO:0005550			True																				owl:Class
MONDO:0004740	biolink:NamedThing	obsolete hyperlysinemia		mondoexuq1wtf				MONDO:0009388						True																				owl:Class
MONDO:0013850	biolink:NamedThing	obsolete periodic fever, menstrual cycle-dependent		mondoexuq1wtf				MONDO:0044660		This term was a duplicate.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0002346	biolink:NamedThing	obsolete malignant histiocytic disease		mondoexuq1wtf				MONDO:0004612						True																				owl:Class
MONDO:0003114	biolink:NamedThing	obsolete bone giant cell sarcoma		mondoexuq1wtf				MONDO:0006287						True																				owl:Class
MONDO:0002213	biolink:NamedThing	obsolete tularemia		mondoexuq1wtf				MONDO:0018077						True																				owl:Class
MONDO:0005245	biolink:NamedThing	obsolete testicular seminoma		mondoexuq1wtf	obsolete testicular seminoma (disease)		obsolete testicular seminoma (disease)	MONDO:0003669						True																				owl:Class
MONDO:0005457	biolink:NamedThing	obsolete acute stress reaction		mondoexuq1wtf				MONDO:0003763						True																				owl:Class
MONDO:0004424	biolink:NamedThing	obsolete familial glomangioma		mondoexuq1wtf		terms merged		MONDO:0007672						True																https://github.com/monarch-initiative/mondo/issues/3168				owl:Class
MONDO:0003178	biolink:NamedThing	obsolete laryngeal adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006264						True																				owl:Class
MONDO:0018867	biolink:NamedThing	obsolete maple syrup urine disease		mondoexuq1wtf				MONDO:0009563						True																				owl:Class
MONDO:0000051	biolink:NamedThing	obsolete keratoderma, palmoplantar striate		mondoexuq1wtf						See genetic heterogeneity of OMIM 148700.				True		DC:0000234																		owl:Class
MONDO:0000557	biolink:NamedThing	obsolete hereditary ataxia		mondoexuq1wtf		terms merged		MONDO:0100309						True																https://github.com/monarch-initiative/mondo/issues/2866				owl:Class
MONDO:0007262	biolink:NamedThing	obsolete carcinoid syndrome		mondoexuq1wtf				MONDO:0006689						True																				owl:Class
MONDO:0006911	biolink:NamedThing	obsolete placental site trophoblastic tumor		mondoexuq1wtf				MONDO:0020552						True																				owl:Class
MONDO:0006299	biolink:NamedThing	obsolete mediastinal neuroblastoma		mondoexuq1wtf				MONDO:0001095						True																				owl:Class
MONDO:0006870	biolink:NamedThing	obsolete noma		mondoexuq1wtf				MONDO:0017124						True																				owl:Class
MONDO:0006627	biolink:NamedThing	obsolete microscopic polyangiitis		mondoexuq1wtf				MONDO:0019124						True																				owl:Class
MONDO:0019958	biolink:NamedThing	obsolete insulinoma		mondoexuq1wtf				MONDO:0005048						True																				owl:Class
MONDO:0011665	biolink:NamedThing	obsolete Lennox-Gastaut syndrome		mondoexuq1wtf				MONDO:0016532						True																				owl:Class
MONDO:0006236	biolink:NamedThing	obsolete granular cell tumor of the neurohypophysis		mondoexuq1wtf				MONDO:0003256						True																				owl:Class
MONDO:0020314	biolink:NamedThing	obsolete refractory anemia		mondoexuq1wtf				MONDO:0005272						True																				owl:Class
MONDO:0000835	biolink:NamedThing	obsolete ischemic bone disease		mondoexuq1wtf				MONDO:0005380						True																				owl:Class
MONDO:0006703	biolink:NamedThing	obsolete chronic interstitial cystitis	Chronic form of interstitial cystitis.	mondoexuq1wtf	interstitial cystitis, chronic			MONDO:0018301						True																				owl:Class
MONDO:0003977	biolink:NamedThing	obsolete fibrillary astrocytoma		mondoexuq1wtf				MONDO:0016688						True																				owl:Class
MONDO:0000063	biolink:NamedThing	obsolete molybdenum cofactor deficiency		mondoexuq1wtf	obsolete molybdenum cofactor deficiency (disease)|molybdenum cofactor deficiency		obsolete molybdenum cofactor deficiency (disease)	MONDO:0020480						True		HP:0003570|DC:0000279																		owl:Class
MONDO:0003793	biolink:NamedThing	obsolete uterine carcinosarcoma		mondoexuq1wtf				MONDO:0006485						True																				owl:Class
MONDO:0003131	biolink:NamedThing	obsolete congenital mesoblastic nephroma		mondoexuq1wtf				MONDO:0017043						True																				owl:Class
MONDO:0000641	biolink:NamedThing	obsolete cerebellar medulloblastoma	A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.	mondoexuq1wtf				MONDO:0007959						True																				owl:Class
MONDO:0018049	biolink:NamedThing	obsolete Kaposi sarcoma		mondoexuq1wtf				MONDO:0005055						True																				owl:Class
MONDO:0012560	biolink:NamedThing	obsolete invasive pneumococcal disease, recurrent isolated, 1		mondoexuq1wtf				MONDO:0011888		Obsolete in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/2339				owl:Class
MONDO:0015189	biolink:NamedThing	obsolete adenocarcinoma of small instestine	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	mondoexuq1wtf				MONDO:0003198						True																				owl:Class
MONDO:0011865	biolink:NamedThing	obsolete COL4A1-related familial vascular leukoencephalopathy	A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34.	mondoexuq1wtf				MONDO:0008289						True																				owl:Class
MONDO:0004138	biolink:NamedThing	obsolete maxillary sinus adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006297						True																				owl:Class
MONDO:0002663	biolink:NamedThing	obsolete systemic mastocytosis		mondoexuq1wtf				MONDO:0016586						True																				owl:Class
MONDO:0005123	biolink:NamedThing	obsolete Hibiscus chlorotic ringspot virus infection		mondoexuq1wtf										True		EFO:0000782																		owl:Class
MONDO:0002823	biolink:NamedThing	obsolete thyroid gland medullary carcinoma		mondoexuq1wtf				MONDO:0015277						True																				owl:Class
MONDO:0005443	biolink:NamedThing	obsolete type 2 diabetes nephropathy		mondoexuq1wtf		terms merged		MONDO:0005016						True																https://github.com/monarch-initiative/mondo/issues/3277				owl:Class
MONDO:0002983	biolink:NamedThing	obsolete neuromuscular junction disease		mondoexuq1wtf				MONDO:0020124						True																				owl:Class
MONDO:0015190	biolink:NamedThing	obsolete leiomyosarcoma of small intestine		mondoexuq1wtf				MONDO:0003360						True																				owl:Class
MONDO:0003006	biolink:NamedThing	obsolete Bartter disease		mondoexuq1wtf				MONDO:0015231						True																				owl:Class
MONDO:0009739	biolink:NamedThing	obsolete infantile neuroaxonal dystrophy		mondoexuq1wtf		terms merged		MONDO:0024457						True																https://github.com/monarch-initiative/mondo/issues/204				owl:Class
MONDO:0003779	biolink:NamedThing	obsolete gliomatosis cerebri		mondoexuq1wtf				MONDO:0016683						True																				owl:Class
MONDO:0004676	biolink:NamedThing	obsolete progressive myoclonus epilepsy		mondoexuq1wtf				MONDO:0020074						True																				owl:Class
MONDO:0000547	biolink:NamedThing	obsolete ovarian serous carcinoma		mondoexuq1wtf				MONDO:0005211						True																				owl:Class
RO:0002161	biolink:NamedThing	never in taxon		mondoexuq1wtf												RO:0002161			True	True											never_in_taxon			owl:AnnotationProperty
MONDO:0006057	biolink:NamedThing	obsolete thymic lymphoma		mondoexuq1wtf				MONDO:0000951						True																				owl:Class
MONDO:0000199	biolink:NamedThing	obsolete familial adenomatous polyposis		mondoexuq1wtf				MONDO:0021055						True																				owl:Class
MONDO:0001900	biolink:NamedThing	obsolete central neurocytoma		mondoexuq1wtf				MONDO:0019134						True																				owl:Class
MONDO:0007146	biolink:NamedThing	obsolete apnea, central sleep		mondoexuq1wtf				MONDO:0008807						True																				owl:Class
MONDO:0007003	biolink:NamedThing	obsolete twin-to-twin transfusion syndrome		mondoexuq1wtf				MONDO:0019805						True																				owl:Class
MONDO:0005521	biolink:NamedThing	obsolete shigellosis		mondoexuq1wtf				MONDO:0019345						True																				owl:Class
MONDO:0002115	biolink:NamedThing	obsolete pancreatic cancer		mondoexuq1wtf				MONDO:0009831						True																				owl:Class
MONDO:0000219	biolink:NamedThing	obsolete uncombable hair syndrome		mondoexuq1wtf				MONDO:0008621						True																				owl:Class
MONDO:0006242	biolink:NamedThing	obsolete hepatoblastoma		mondoexuq1wtf				MONDO:0018666						True																				owl:Class
MONDO:0002054	biolink:NamedThing	obsolete breast cancer		mondoexuq1wtf				MONDO:0007254						True																				owl:Class
MONDO:0005409	biolink:NamedThing	obsolete variant Creutzfeld Jacob disease		mondoexuq1wtf				MONDO:0007012						True																				owl:Class
MONDO:0011623	biolink:NamedThing	obsolete spinocerebellar ataxia, autosomal recessive 1		mondoexuq1wtf				MONDO:0018996		duplicate				True																https://github.com/monarch-initiative/mondo/issues/48				owl:Class
MONDO:0002793	biolink:NamedThing	obsolete medullomyoblastoma		mondoexuq1wtf				MONDO:0006300						True																				owl:Class
MONDO:0001047	biolink:NamedThing	obsolete adrenal cortical hypofunction		mondoexuq1wtf				MONDO:0000004						True																				owl:Class
MONDO:0016732	biolink:NamedThing	obsolete dysembryoplastic neuroepithelial tumor		mondoexuq1wtf				MONDO:0005505						True																				owl:Class
MONDO:0000122	biolink:NamedThing	obsolete facial paresis, hereditary congenital		mondoexuq1wtf				MONDO:0011090						True		DC:0000516																		owl:Class
MONDO:0019081	biolink:NamedThing	obsolete alopecia universalis		mondoexuq1wtf				MONDO:0008757						True																				owl:Class
MONDO:0002231	biolink:NamedThing	obsolete malignant ovarian germ cell neoplasm		mondoexuq1wtf				MONDO:0018171						True																				owl:Class
MONDO:0003662	biolink:NamedThing	obsolete endometrioid ovary carcinoma		mondoexuq1wtf				MONDO:0006335						True																				owl:Class
MONDO:0018179	biolink:NamedThing	obsolete bacterial toxic-shock syndrome		mondoexuq1wtf				MONDO:0001881						True																				owl:Class
MONDO:0000431	biolink:NamedThing	obsolete mantle cell lymphoma		mondoexuq1wtf				MONDO:0018876						True																				owl:Class
MONDO:0000370	biolink:NamedThing	obsolete Askin's tumor		mondoexuq1wtf				MONDO:0006094						True																				owl:Class
MONDO:0012616	biolink:NamedThing	obsolete MRT8		mondoexuq1wtf				MONDO:0013676		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1706				owl:Class
MONDO:0004606	biolink:NamedThing	obsolete pyoderma gangrenosum		mondoexuq1wtf				MONDO:0018824						True																				owl:Class
MONDO:0001043	biolink:NamedThing	obsolete diaphragm disease		mondoexuq1wtf				MONDO:0005728						True																				owl:Class
MONDO:0000026	biolink:NamedThing	obsolete Fanconi renotubular syndrome		mondoexuq1wtf				MONDO:0001083						True																				owl:Class
MONDO:0017820	biolink:NamedThing	obsolete obsolete disease with Cushing syndrome as a major feature	A disease in which Cushing syndrome is a major feature.	mondoexuq1wtf	rare disease with Cushing syndrome as a major feature	MONDO:outOfScope				This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'.	UMLS:CN203791|Orphanet:314749			True																https://github.com/monarch-initiative/mondo/issues/1522|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MONDO:0007926	biolink:NamedThing	obsolete Waldenstrom macroglobulinemia		mondoexuq1wtf				MONDO:0100280		Split into generic and type 1 subtype from OMIM (OMIM:153600).				True																https://github.com/monarch-initiative/mondo/issues/2562				owl:Class
MONDO:0004998	biolink:NamedThing	obsolete chondromyxoid fibroma		mondoexuq1wtf				MONDO:0018447						True																				owl:Class
MONDO:0000205	biolink:NamedThing	obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia		mondoexuq1wtf										True																				owl:Class
MONDO:0000998	biolink:NamedThing	obsolete parotid disease		mondoexuq1wtf				MONDO:0005899						True																				owl:Class
MONDO:0100139	biolink:NamedThing	obsolete asymptomatic COVID-19 infection	A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease.	mondoexuq1wtf		Not a disease					MONDO:0100096	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0000438	biolink:NamedThing	obsolete ataxia with oculomotor apraxia type 2		mondoexuq1wtf				MONDO:0018996						True																				owl:Class
MONDO:0019961	biolink:NamedThing	obsolete somatostatinoma		mondoexuq1wtf				MONDO:0006976						True																				owl:Class
MONDO:0020570	biolink:NamedThing	obsolete Brill-Zinsser disease		mondoexuq1wtf				MONDO:0005680						True																				owl:Class
MONDO:0008077	biolink:NamedThing	obsolete neurofibromatosis, type 1		mondoexuq1wtf				MONDO:0018975						True																				owl:Class
MONDO:0007786	biolink:NamedThing	obsolete hypertrichosis lanuginosa congenita		mondoexuq1wtf				MONDO:0016381						True																				owl:Class
MONDO:0017873	biolink:NamedThing	obsolete Ebola hemorrhagic fever		mondoexuq1wtf				MONDO:0005737						True																				owl:Class
MONDO:0002348	biolink:NamedThing	obsolete chondrodysplasia punctata		mondoexuq1wtf				MONDO:0019701						True																				owl:Class
MONDO:0004850	biolink:NamedThing	obsolete yellow fever		mondoexuq1wtf				MONDO:0020502						True																				owl:Class
MONDO:0000854	biolink:NamedThing	obsolete Stickler syndrome		mondoexuq1wtf				MONDO:0019354						True																				owl:Class
MONDO:0002557	biolink:NamedThing	obsolete schwannomatosis		mondoexuq1wtf				MONDO:0008075						True																				owl:Class
MONDO:0008144	biolink:NamedThing	obsolete osteochondritis dissecans		mondoexuq1wtf				MONDO:0017178						True																				owl:Class
MONDO:0044214	biolink:NamedThing	obsolete androstenone, ability to smell		mondoexuq1wtf	ANDROSTENONE, ability to smell					Obsoleted as it represents a trait or is a legacy entry				True		OMIM:105570																		owl:Class
MONDO:0000731	biolink:NamedThing	obsolete peeling skin syndrome		mondoexuq1wtf				MONDO:0019347						True																				owl:Class
MONDO:0015444	biolink:NamedThing	obsolete cleidocranial dysplasia		mondoexuq1wtf				MONDO:0007340						True																				owl:Class
MONDO:0006775	biolink:NamedThing	obsolete haemophilus influenzae meningitis		mondoexuq1wtf				MONDO:0000889						True																				owl:Class
MONDO:0000537	biolink:NamedThing	obsolete gastrointestinal carcinoma		mondoexuq1wtf	obsolete gastrointestinal carcinoma (disease)		obsolete gastrointestinal carcinoma (disease)	MONDO:0006181						True																				owl:Class
MONDO:0002339	biolink:NamedThing	obsolete hemangioma		mondoexuq1wtf				MONDO:0006500						True																				owl:Class
MONDO:0004825	biolink:NamedThing	obsolete encephalitis		mondoexuq1wtf				MONDO:0019956						True																				owl:Class
MONDO:0005472	biolink:NamedThing	obsolete congenital heart malformation		mondoexuq1wtf				MONDO:0019512						True																				owl:Class
MONDO:0019785	biolink:NamedThing	obsolete 15q24 microdeletion syndrome		mondoexuq1wtf				MONDO:0013256						True																				owl:Class
MONDO:0000864	biolink:NamedThing	obsolete congenital myopathy		mondoexuq1wtf				MONDO:0019952						True																				owl:Class
MONDO:0020514	biolink:NamedThing	obsolete thymoma		mondoexuq1wtf				MONDO:0006456						True																				owl:Class
MONDO:0009065	biolink:NamedThing	obsolete cystinosis, nephropathic		mondoexuq1wtf				MONDO:0100151						True																https://github.com/monarch-initiative/mondo/issues/960				owl:Class
MONDO:0005721	biolink:NamedThing	obsolete coxsackievirus infectious disease		mondoexuq1wtf		terms merged		MONDO:0000241						True																https://github.com/monarch-initiative/mondo/issues/3205				owl:Class
MONDO:0003583	biolink:NamedThing	obsolete atypical lipomatous tumor		mondoexuq1wtf				MONDO:0006097						True																				owl:Class
MONDO:0000083	biolink:NamedThing	obsolete Griscelli syndrome		mondoexuq1wtf				MONDO:0018306						True																				owl:Class
MONDO:0002530	biolink:NamedThing	obsolete malignant spindle cell melanoma		mondoexuq1wtf				MONDO:0006427						True																				owl:Class
MONDO:0017707	biolink:NamedThing	obsolete disorder of lipid metabolism		mondoexuq1wtf				MONDO:0002525						True																				owl:Class
MONDO:0004437	biolink:NamedThing	obsolete gastric signet ring cell adenocarcinoma		mondoexuq1wtf				MONDO:0006409						True																				owl:Class
MONDO:0000556	biolink:NamedThing	obsolete autosomal recessive cerebellar ataxia		mondoexuq1wtf				MONDO:0015244						True																				owl:Class
MONDO:0015815	biolink:NamedThing	obsolete primary cutaneous diffuse large B-cell lymphoma, leg type		mondoexuq1wtf				MONDO:0006383						True																				owl:Class
MONDO:0000196	biolink:NamedThing	obsolete ataxia-oculomotor apraxia		mondoexuq1wtf						Based on genetic heterogeneity of OMIM 208920.				True		DC:0000702																		owl:Class
MONDO:0004818	biolink:NamedThing	obsolete benign neurilemmoma		mondoexuq1wtf				MONDO:0002546						True																				owl:Class
MONDO:0006495	biolink:NamedThing	obsolete marginal zone B-cell lymphoma		mondoexuq1wtf				MONDO:0017604						True																				owl:Class
MONDO:0000272	biolink:NamedThing	obsolete autoimmune polyendocrine syndrome type 2		mondoexuq1wtf				MONDO:0010012						True																				owl:Class
MONDO:0004003	biolink:NamedThing	obsolete pancreatic solid pseudopapillary carcinoma		mondoexuq1wtf				MONDO:0018525						True																				owl:Class
MONDO:0004282	biolink:NamedThing	obsolete eccrine porocarcinoma		mondoexuq1wtf				MONDO:0006189						True																				owl:Class
MONDO:0018990	biolink:NamedThing	obsolete pulmonary blastoma		mondoexuq1wtf				MONDO:0005933						True																				owl:Class
MONDO:0019166	biolink:NamedThing	obsolete strongyloidiasis		mondoexuq1wtf				MONDO:0005974						True																				owl:Class
MONDO:0000017	biolink:NamedThing	obsolete deafness, autosomal recessive		mondoexuq1wtf				MONDO:0011791						True																				owl:Class
MONDO:0044790	biolink:NamedThing	obsolete congenital melanocytic nevus		mondoexuq1wtf				MONDO:0044792		Obsoleted as was conflated with spitz nevus				True																				owl:Class
MONDO:0001948	biolink:NamedThing	obsolete Riedel's fibrosing thyroiditis		mondoexuq1wtf		terms merged		MONDO:0018992						True																https://github.com/monarch-initiative/mondo/issues/2980				owl:Class
MONDO:0022725	biolink:NamedThing	obsolete chondrodysplasia lethal recessive		mondoexuq1wtf				MONDO:0015425		This was a duplicate class.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0000718	biolink:NamedThing	obsolete Adams-Oliver syndrome		mondoexuq1wtf				MONDO:0007034						True																				owl:Class
MONDO:0022651	biolink:NamedThing	obsolete cardiomyopathy dilated with conduction defect type 1		mondoexuq1wtf				MONDO:0007269		duplicate				True																https://github.com/monarch-initiative/mondo/issues/2328				owl:Class
MONDO:0002294	biolink:NamedThing	obsolete gangliocytoma		mondoexuq1wtf				MONDO:0016730						True																				owl:Class
MONDO:0018518	biolink:NamedThing	obsolete adenocarcinoma of the anal canal		mondoexuq1wtf				MONDO:0002735						True																				owl:Class
MONDO:0010394	biolink:NamedThing	obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome		mondoexuq1wtf				MONDO:0010275						True																				owl:Class
MONDO:0029146	biolink:NamedThing	obsolete Saul-Wilson syndrome		mondoexuq1wtf				MONDO:0019407						True																				owl:Class
MONDO:0024293	biolink:NamedThing	obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980		mondoexuq1wtf		terms merged		MONDO:0017790						True																https://github.com/monarch-initiative/mondo/issues/3416				owl:Class
MONDO:0002364	biolink:NamedThing	obsolete Wolffian duct adenoma		mondoexuq1wtf				MONDO:0024889						True																				owl:Class
MONDO:0018568	biolink:NamedThing	obsolete COG2-CDG		mondoexuq1wtf		terms merged		MONDO:0054559						True																https://github.com/monarch-initiative/mondo/issues/2923				owl:Class
MONDO:0003148	biolink:NamedThing	obsolete SM-AHNMD		mondoexuq1wtf				MONDO:0020332						True																https://github.com/monarch-initiative/mondo/issues/1270				owl:Class
MONDO:0000178	biolink:NamedThing	obsolete breasts and/or nipples, aplasia or hypoplasia of		mondoexuq1wtf										True		DC:0000671																		owl:Class
MONDO:0018350	biolink:NamedThing	obsolete malignant tumor of penis		mondoexuq1wtf				MONDO:0001325						True																				owl:Class
MONDO:0000571	biolink:NamedThing	obsolete CD3zeta deficiency		mondoexuq1wtf				MONDO:0012426						True																				owl:Class
MONDO:0007714	biolink:NamedThing	obsolete migraine, familial hemiplegic, 1		mondoexuq1wtf							MONDO:0000700|MONDO:0020756			True																				owl:Class
MONDO:0000729	biolink:NamedThing	obsolete congenital ptosis		mondoexuq1wtf				MONDO:0008340						True																				owl:Class
MONDO:0006457	biolink:NamedThing	obsolete thymoma type AB		mondoexuq1wtf				MONDO:0016975						True																				owl:Class
MONDO:0015685	biolink:NamedThing	obsolete peritoneal cystic mesothelioma		mondoexuq1wtf				MONDO:0006363						True																				owl:Class
MONDO:0004023	biolink:NamedThing	obsolete hepatoblastoma		mondoexuq1wtf				MONDO:0018666						True																				owl:Class
MONDO:0015671	biolink:NamedThing	obsolete diphtheria		mondoexuq1wtf				MONDO:0005504						True																				owl:Class
MONDO:0000526	biolink:NamedThing	obsolete appendix carcinoid tumor	A carcinoid tumor (disease) that involves the vermiform appendix.	mondoexuq1wtf				MONDO:0006091						True																				owl:Class
MONDO:0011791	biolink:NamedThing	obsolete deafness, autosomal recessive		mondoexuq1wtf				MONDO:0019588						True																				owl:Class
MONDO:0008413	biolink:NamedThing	obsolete schizophrenia		mondoexuq1wtf				MONDO:0005090						True																				owl:Class
MONDO:0019564	biolink:NamedThing	obsolete systemic sclerosis		mondoexuq1wtf				MONDO:0005100						True																				owl:Class
MONDO:0002084	biolink:NamedThing	obsolete neuroectodermal tumor		mondoexuq1wtf				MONDO:0005462						True																				owl:Class
MONDO:0006384	biolink:NamedThing	obsolete primary effusion lymphoma		mondoexuq1wtf				MONDO:0018842						True																				owl:Class
MONDO:0000095	biolink:NamedThing	obsolete split-hand/foot malformation		mondoexuq1wtf				MONDO:0016576						True		DC:0000416																		owl:Class
MONDO:0005162	biolink:NamedThing	obsolete influenza infection		mondoexuq1wtf				MONDO:0005812						True																				owl:Class
MONDO:0000897	biolink:NamedThing	obsolete chronic myelomonocytic leukemia		mondoexuq1wtf				MONDO:0020311						True																				owl:Class
MONDO:0003123	biolink:NamedThing	obsolete multiple system atrophy		mondoexuq1wtf				MONDO:0007803						True																				owl:Class
MONDO:0100143	biolink:NamedThing	obsolete critical COVID-19 infection	A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction.	mondoexuq1wtf		Not a disease					MONDO:0100096	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0000021	biolink:NamedThing	obsolete short-rib thoracic dysplasia		mondoexuq1wtf				MONDO:0018770						True		DC:0000131																		owl:Class
MONDO:0000203	biolink:NamedThing	obsolete Dehydrated hereditary stomatocytosis		mondoexuq1wtf				MONDO:0017910						True																				owl:Class
MONDO:0002980	biolink:NamedThing	obsolete myofibroma		mondoexuq1wtf				MONDO:0006312						True																				owl:Class
MONDO:0000719	biolink:NamedThing	obsolete Baraitser-winter syndrome		mondoexuq1wtf				MONDO:0017579						True																				owl:Class
MONDO:0001311	biolink:NamedThing	obsolete Chandler syndrome		mondoexuq1wtf				MONDO:0020369						True																				owl:Class
MONDO:0007065	biolink:NamedThing	obsolete adenosine deaminase, elevated, hemolytic anemia due to		mondoexuq1wtf				MONDO:0020458						True																				owl:Class
MONDO:0005261	biolink:NamedThing	obsolete pervasive developmental disorder - not otherwise specified		mondoexuq1wtf		terms merged		MONDO:0005258						True																https://github.com/monarch-initiative/mondo/issues/2505				owl:Class
MONDO:0000711	biolink:NamedThing	obsolete amyotrophic lateral sclerosis type 13		mondoexuq1wtf				MONDO:0008458						True																				owl:Class
MONDO:0012026	biolink:NamedThing	obsolete myotonia, potassium-aggravated		mondoexuq1wtf				MONDO:0018959						True																				owl:Class
MONDO:0001599	biolink:NamedThing	obsolete Mikulicz disease		mondoexuq1wtf				MONDO:0019191						True																				owl:Class
MONDO:0018859	biolink:NamedThing	obsolete Leigh disease		mondoexuq1wtf				MONDO:0009723						True																				owl:Class
MONDO:0015142	biolink:NamedThing	obsolete ataxia syndrome		mondoexuq1wtf				MONDO:0000437						True																				owl:Class
MONDO:0005685	biolink:NamedThing	obsolete bullous pemphigoid		mondoexuq1wtf				MONDO:0019082						True																				owl:Class
MONDO:0000311	biolink:NamedThing	obsolete congenital hypothyroidism		mondoexuq1wtf				MONDO:0018612						True																				owl:Class
MONDO:0003324	biolink:NamedThing	obsolete stromal predominant kidney Wilms' tumor		mondoexuq1wtf				MONDO:0006432						True																				owl:Class
MONDO:0001587	biolink:NamedThing	obsolete mucopolysaccharidosis type 4		mondoexuq1wtf				MONDO:0018938						True																				owl:Class
MONDO:0005054	biolink:NamedThing	obsolete juvenile dermatomyositis		mondoexuq1wtf				MONDO:0008054						True																				owl:Class
MONDO:0014279	biolink:NamedThing	obsolete arrhythmogenic right ventricular dysplasia, familial, 13		mondoexuq1wtf				MONDO:0000908						True																				owl:Class
MONDO:0005337	biolink:NamedThing	obsolete neuropathy		mondoexuq1wtf				MONDO:0005244						True																				owl:Class
MONDO:0016339	biolink:NamedThing	obsolete restrictive cardiomyopathy		mondoexuq1wtf				MONDO:0005201						True																				owl:Class
MONDO:0016023	biolink:NamedThing	obsolete ocular coloboma		mondoexuq1wtf				MONDO:0001476		Obsolete in Orphanet.				True																https://github.com/monarch-initiative/mondo/issues/391				owl:Class
MONDO:0000116	biolink:NamedThing	obsolete cortical dysplasia, complex, with other brain malformations		mondoexuq1wtf				MONDO:0000904						True		DC:0000498																		owl:Class
MONDO:0000886	biolink:NamedThing	obsolete meningococcal meningitis		mondoexuq1wtf				MONDO:0006852						True																				owl:Class
MONDO:0000436	biolink:NamedThing	obsolete T-cell large granular lymphocyte leukemia		mondoexuq1wtf				MONDO:0019469						True																				owl:Class
MONDO:0006072	biolink:NamedThing	obsolete adenoid cystic breast carcinoma	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	mondoexuq1wtf				MONDO:0003185						True																				owl:Class
MONDO:0005024	biolink:NamedThing	obsolete emphysema		mondoexuq1wtf				MONDO:0004849						True																				owl:Class
MONDO:0004581	biolink:NamedThing	obsolete localized scleroderma		mondoexuq1wtf				MONDO:0019562						True																				owl:Class
MONDO:0006113	biolink:NamedThing	obsolete bladder small cell neuroendocrine carcinoma		mondoexuq1wtf				MONDO:0004114						True																				owl:Class
MONDO:0000867	biolink:NamedThing	obsolete multiple pterygium syndrome		mondoexuq1wtf				MONDO:0017415						True																				owl:Class
MONDO:0016585	biolink:NamedThing	obsolete mansonelliasis		mondoexuq1wtf				MONDO:0005838						True																				owl:Class
MONDO:0000089	biolink:NamedThing	obsolete age-related hearing impairment		mondoexuq1wtf				MONDO:0005562						True																				owl:Class
MONDO:0000439	biolink:NamedThing	obsolete batten disease		mondoexuq1wtf				MONDO:0019262						True																				owl:Class
MONDO:0018300	biolink:NamedThing	obsolete genetic hyperaldosteronism		mondoexuq1wtf				MONDO:0016525						True																				owl:Class
MONDO:0000609	biolink:NamedThing	obsolete sideroblastic anemia with spinocerebellar ataxia		mondoexuq1wtf				MONDO:0010524						True																				owl:Class
MONDO:0002499	biolink:NamedThing	obsolete astrocytoma		mondoexuq1wtf				MONDO:0019781						True																				owl:Class
MONDO:0043181	biolink:NamedThing	obsolete Refsum disease with increased pipecolic acidemia		mondoexuq1wtf				MONDO:0009958		Obsoleted in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/2590				owl:Class
MONDO:0018524	biolink:NamedThing	obsolete intraductal papillary mucinous carcinoma of pancreas		mondoexuq1wtf				MONDO:0004285						True																				owl:Class
MONDO:0006433	biolink:NamedThing	obsolete subcutaneous panniculitis-like T-cell lymphoma		mondoexuq1wtf				MONDO:0019475						True																				owl:Class
MONDO:0009641	biolink:NamedThing	obsolete mitochondrial complex II deficiency		mondoexuq1wtf				MONDO:0100294		Created new class that is child of OMIMPS.				True																https://github.com/monarch-initiative/mondo/issues/2758				owl:Class
MONDO:0012234	biolink:NamedThing	obsolete LFS3		mondoexuq1wtf				MONDO:0007903						True																				owl:Class
MONDO:0015456	biolink:NamedThing	obsolete whooping cough		mondoexuq1wtf				MONDO:0005077						True																				owl:Class
MONDO:0002538	biolink:NamedThing	obsolete progressive muscular atrophy		mondoexuq1wtf				MONDO:0018687						True																				owl:Class
MONDO:0023052	biolink:NamedThing	obsolete ectrodactyly polydactyly		mondoexuq1wtf		terms merged		MONDO:0009156						True																https://github.com/monarch-initiative/mondo/issues/2864				owl:Class
MONDO:0019217	biolink:NamedThing	obsolete inborn disorder of urea cycle metabolism and ammonia detoxification		mondoexuq1wtf				MONDO:0004739		duplicate				True																https://github.com/monarch-initiative/mondo/issues/1572				owl:Class
MONDO:0004887	biolink:NamedThing	obsolete polyarteritis nodosa		mondoexuq1wtf				MONDO:0019170						True																				owl:Class
MONDO:0005234	biolink:NamedThing	obsolete polymyositis		mondoexuq1wtf				MONDO:0019127						True																				owl:Class
MONDO:0003149	biolink:NamedThing	obsolete aggressive systemic mastocytosis		mondoexuq1wtf				MONDO:0020333						True																				owl:Class
MONDO:0007658	biolink:NamedThing	obsolete spitz nevus	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	mondoexuq1wtf				MONDO:0044793		Obsoleted as was conflated with congenital melanocytic nevus				True																				owl:Class
MONDO:0000150	biolink:NamedThing	obsolete spondylometaphyseal dysplasia		mondoexuq1wtf				MONDO:0016763						True																				owl:Class
MONDO:0000117	biolink:NamedThing	obsolete diarrhea, congenital		mondoexuq1wtf				MONDO:0000824						True																				owl:Class
MONDO:0001131	biolink:NamedThing	obsolete duodenum adenocarcinoma		mondoexuq1wtf				MONDO:0006186						True																				owl:Class
MONDO:0000907	biolink:NamedThing	obsolete amelogenesis imperfecta type 1C		mondoexuq1wtf				MONDO:0008770						True																				owl:Class
MONDO:0100141	biolink:NamedThing	obsolete moderate COVID-19 infection	A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level.	mondoexuq1wtf		Not a disease					MONDO:0100096	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0002001	biolink:NamedThing	obsolete disease of cellular proliferation		mondoexuq1wtf				MONDO:0005070						True																				owl:Class
MONDO:0003230	biolink:NamedThing	obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor		mondoexuq1wtf				MONDO:0021039						True																				owl:Class
MONDO:0005839	biolink:NamedThing	obsolete Marburg hemorrhagic fever		mondoexuq1wtf				MONDO:0020500						True																				owl:Class
MONDO:0011769	biolink:NamedThing	obsolete familial aortic dissection		mondoexuq1wtf				MONDO:0019625						True																https://github.com/monarch-initiative/mondo/issues/408				owl:Class
MONDO:0000623	biolink:NamedThing	obsolete organ system benign neoplasm		mondoexuq1wtf				MONDO:0005165						True																				owl:Class
MONDO:0015973	biolink:NamedThing	obsolete rare genetic coagulation disorder		mondoexuq1wtf				MONDO:0021181						True																				owl:Class
MONDO:0018691	biolink:NamedThing	obsolete endometrioid carcinoma of ovary		mondoexuq1wtf				MONDO:0006335						True																				owl:Class
MONDO:0006070	biolink:NamedThing	obsolete acute leukemia		mondoexuq1wtf				MONDO:0010643						True																				owl:Class
MONDO:0000443	biolink:NamedThing	obsolete adenylosuccinase lyase deficiency		mondoexuq1wtf				MONDO:0007068						True																				owl:Class
MONDO:0004722	biolink:NamedThing	obsolete Wiskott-Aldrich syndrome		mondoexuq1wtf				MONDO:0010518						True																				owl:Class
rdfs:seeAlso	biolink:NamedThing	seeAlso		mondoexuq1wtf												http://www.w3.org/2000/01/rdf-schema#seeAlso			True	True											seeAlso			owl:AnnotationProperty
MONDO:0001346	biolink:NamedThing	obsolete distal muscular dystrophy		mondoexuq1wtf				MONDO:0018949						True																				owl:Class
MONDO:0005958	biolink:NamedThing	obsolete sex cord-stromal tumor		mondoexuq1wtf				MONDO:0006055						True																				owl:Class
MONDO:0017254	biolink:NamedThing	obsolete posterior uveitis		mondoexuq1wtf	obsolete posterior uveitis (disease)		obsolete posterior uveitis (disease)	MONDO:0001280						True																				owl:Class
MONDO:0006575	biolink:NamedThing	obsolete loiasis		mondoexuq1wtf				MONDO:0016566						True																				owl:Class
MONDO:0000164	biolink:NamedThing	obsolete corneal dystrophy, Fuchs endothelial		mondoexuq1wtf				MONDO:0005321						True																				owl:Class
MONDO:0011643	biolink:NamedThing	obsolete permanent neonatal diabetes mellitus		mondoexuq1wtf				MONDO:0100164		OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS.				True																https://github.com/monarch-initiative/mondo/issues/1803				owl:Class
MONDO:0000285	biolink:NamedThing	obsolete lujo hemorrhagic fever		mondoexuq1wtf				MONDO:0017872						True																				owl:Class
MONDO:0000689	biolink:NamedThing	obsolete survival motor neuron spinal muscular atrophy		mondoexuq1wtf				MONDO:0009669						True																				owl:Class
MONDO:0005882	biolink:NamedThing	obsolete onchocerciasis		mondoexuq1wtf				MONDO:0017137						True																				owl:Class
MONDO:0006867	biolink:NamedThing	obsolete neovascular glaucoma		mondoexuq1wtf				MONDO:0019783						True																				owl:Class
MONDO:0008112	biolink:NamedThing	obsolete Goldenhar syndrome		mondoexuq1wtf				MONDO:0015397		Obsoleted in Orphanet.				True																https://github.com/monarch-initiative/mondo/issues/2358				owl:Class
MONDO:0020534	biolink:NamedThing	obsolete farmer's lung		mondoexuq1wtf				MONDO:0001971						True																				owl:Class
MONDO:0009510	biolink:NamedThing	obsolete Laron syndrome with immunodeficiency		mondoexuq1wtf				MONDO:0100211		Split this term and added OMIM phenotypic series as a parent.				True																				owl:Class
MONDO:0002059	biolink:NamedThing	obsolete breast duct papilloma		mondoexuq1wtf				MONDO:0021097						True																				owl:Class
MONDO:0013451	biolink:NamedThing	obsolete progressive myoclonic epilepsy type 5		mondoexuq1wtf				MONDO:0011835		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1707				owl:Class
MONDO:0004783	biolink:NamedThing	obsolete panhypopituitarism		mondoexuq1wtf				MONDO:0019591						True																				owl:Class
MONDO:0012281	biolink:NamedThing	obsolete sarcoidosis, early-onset		mondoexuq1wtf				MONDO:0008523		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/1703				owl:Class
MONDO:0000086	biolink:NamedThing	obsolete polydactyly, preaxial		mondoexuq1wtf				MONDO:0017425						True																				owl:Class
MONDO:0002215	biolink:NamedThing	obsolete atypical teratoid rhabdoid tumor		mondoexuq1wtf				MONDO:0020560						True																				owl:Class
MONDO:0001450	biolink:NamedThing	obsolete arachnoiditis		mondoexuq1wtf				MONDO:0015304						True																				owl:Class
MONDO:0000268	biolink:NamedThing	obsolete lymphoid interstitial pneumonia		mondoexuq1wtf				MONDO:0009537						True																				owl:Class
MONDO:0000322	biolink:NamedThing	obsolete Carrion disease	A disease caused by infection with Bartonella bacilliformis.	mondoexuq1wtf				MONDO:0018984						True																				owl:Class
MONDO:0004476	biolink:NamedThing	obsolete thymus sarcomatoid carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	mondoexuq1wtf				MONDO:0006452						True																				owl:Class
MONDO:0001013	biolink:NamedThing	obsolete fibrosclerosis of breast		mondoexuq1wtf				MONDO:0006118						True																				owl:Class
MONDO:0010666	biolink:NamedThing	obsolete Miles-Carpenter syndrome		mondoexuq1wtf				MONDO:0010758		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1696				owl:Class
MONDO:0000056	biolink:NamedThing	obsolete mandibuloacral dysplasia with lipodystrophy		mondoexuq1wtf				MONDO:0016584						True																				owl:Class
MONDO:0015952	biolink:NamedThing	obsolete genetic neurodegenerative disease		mondoexuq1wtf				MONDO:0024237						True																				owl:Class
MONDO:0017796	biolink:NamedThing	obsolete ameloblastic carcinoma		mondoexuq1wtf				MONDO:0006079						True																				owl:Class
MONDO:0004536	biolink:NamedThing	obsolete villoglandular variant cervical mucinous adenocarcinoma		mondoexuq1wtf				MONDO:0006141						True																				owl:Class
MONDO:0000433	biolink:NamedThing	obsolete marginal zone B-cell lymphoma		mondoexuq1wtf				MONDO:0006495						True																				owl:Class
MONDO:0022464	biolink:NamedThing	obsolete anophthalmia microcephaly hypogonadism		mondoexuq1wtf		https://github.com/monarch-initiative/mondo/issues/141				This term was found in the globalgenes.org rare disease list, but no information could be found about it.				True		GARD:0000718																		owl:Class
MONDO:0019361	biolink:NamedThing	obsolete boutonneuse fever		mondoexuq1wtf				MONDO:0005677						True																				owl:Class
MONDO:0000091	biolink:NamedThing	obsolete progressive familial heart block		mondoexuq1wtf				MONDO:0019490						True																				owl:Class
MONDO:0015862	biolink:NamedThing	obsolete embryonal carcinoma		mondoexuq1wtf				MONDO:0005440						True																				owl:Class
MONDO:0019966	biolink:NamedThing	obsolete thoracic outlet syndrome		mondoexuq1wtf				MONDO:0005979						True																				owl:Class
MONDO:0018985	biolink:NamedThing	obsolete trench fever		mondoexuq1wtf				MONDO:0005991						True																				owl:Class
MONDO:0019863	biolink:NamedThing	obsolete acro-renal-ocular syndrome		mondoexuq1wtf				MONDO:0011812		These terms are equivalent.				True																https://github.com/monarch-initiative/mondo/issues/1201				owl:Class
MONDO:0009640	biolink:NamedThing	obsolete mitochondrial complex I deficiency, nuclear type		mondoexuq1wtf				MONDO:0100223		Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent.				True																https://github.com/monarch-initiative/mondo/issues/2277				owl:Class
MONDO:0006048	biolink:NamedThing	obsolete pancreatic neuroendocrine tumor		mondoexuq1wtf				MONDO:0019954						True																				owl:Class
MONDO:0009819	biolink:NamedThing	obsolete idiopathic juvenile osteoporosis		mondoexuq1wtf				MONDO:0019409						True																				owl:Class
MONDO:0016265	biolink:NamedThing	obsolete endometrial stromal sarcoma		mondoexuq1wtf				MONDO:0006745						True																				owl:Class
MONDO:0000143	biolink:NamedThing	obsolete multiple mitochondrial dysfunctions syndrome		mondoexuq1wtf										True		DC:0000566																		owl:Class
MONDO:0018966	biolink:NamedThing	obsolete isolated growth hormone deficiency		mondoexuq1wtf				MONDO:0000050						True																				owl:Class
MONDO:0000207	biolink:NamedThing	obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies		mondoexuq1wtf				MONDO:0014176						True																				owl:Class
MONDO:0020114	biolink:NamedThing	obsolete polycythemia		mondoexuq1wtf				MONDO:0005571						True																				owl:Class
MONDO:0000356	biolink:NamedThing	obsolete Walker-Warburg syndrome		mondoexuq1wtf				MONDO:0019523						True																				owl:Class
OIO:is_class_level	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0002284	biolink:NamedThing	obsolete gangliosidosis		mondoexuq1wtf				MONDO:0017719						True																				owl:Class
MONDO:0005305	biolink:NamedThing	obsolete epistaxis		mondoexuq1wtf							HP:0000421			True																https://github.com/monarch-initiative/mondo/issues/924				owl:Class
MONDO:0007731	biolink:NamedThing	obsolete HLA modifier		mondoexuq1wtf	HLA modifier						OMIM:142770|UMLS:C1840550			True																				owl:Class
MONDO:0003623	biolink:NamedThing	obsolete pancreatic acinar cell adenocarcinoma		mondoexuq1wtf				MONDO:0006346						True																				owl:Class
MONDO:0022446	biolink:NamedThing	obsolete amyloidosis nodular localized cutaneous		mondoexuq1wtf				MONDO:0015302		duplicate				True																https://github.com/monarch-initiative/mondo/issues/139				owl:Class
MONDO:0003817	biolink:NamedThing	obsolete peritoneal serous papillary adenocarcinoma		mondoexuq1wtf				MONDO:0018368						True																https://github.com/monarch-initiative/mondo/issues/392				owl:Class
MONDO:0000296	biolink:NamedThing	obsolete angiostrongyliasis		mondoexuq1wtf				MONDO:0019143						True																				owl:Class
MONDO:0000347	biolink:NamedThing	obsolete adult T-cell leukemia/lymphoma		mondoexuq1wtf				MONDO:0019471						True																				owl:Class
MONDO:0005587	biolink:NamedThing	obsolete non-Hodgkins lymphoma		mondoexuq1wtf				MONDO:0018908						True																				owl:Class
MONDO:0002589	biolink:NamedThing	obsolete thymoma type AB		mondoexuq1wtf				MONDO:0016975						True																				owl:Class
MONDO:0003919	biolink:NamedThing	obsolete inherited metabolic disorder		mondoexuq1wtf				MONDO:0019052						True																				owl:Class
MONDO:0000031	biolink:NamedThing	obsolete fatty liver disease, nonalcoholic		mondoexuq1wtf				MONDO:0013209						True																				owl:Class
MONDO:0023191	biolink:NamedThing	obsolete Freire-Maia odontotrichomelic syndrome		mondoexuq1wtf				MONDO:0010111		Duplicate				True																https://github.com/monarch-initiative/mondo/issues/2579				owl:Class
MONDO:0014964	biolink:NamedThing	obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum		mondoexuq1wtf				MONDO:0044646						True																https://github.com/monarch-initiative/mondo/issues/1623				owl:Class
MONDO:0023616	biolink:NamedThing	obsolete familial leiomyomatosis		mondoexuq1wtf				MONDO:0007888		Term was retired in GARD.				True																https://github.com/monarch-initiative/mondo/issues/1723				owl:Class
MONDO:0001077	biolink:NamedThing	obsolete short bowel syndrome		mondoexuq1wtf				MONDO:0015183						True																				owl:Class
MONDO:0002689	biolink:NamedThing	obsolete pseudomyxoma peritonei		mondoexuq1wtf				MONDO:0017048						True																				owl:Class
MONDO:0006083	biolink:NamedThing	obsolete anaplastic large cell lymphoma, ALK-negative		mondoexuq1wtf				MONDO:0017603						True																				owl:Class
MONDO:0022460	biolink:NamedThing	obsolete anophthalmia cleft lip palate hypothalamic disorder		mondoexuq1wtf				MONDO:0010930						True																				owl:Class
MONDO:0000454	biolink:NamedThing	obsolete multiple synostoses syndrome		mondoexuq1wtf				MONDO:0017923						True																				owl:Class
MONDO:0001097	biolink:NamedThing	obsolete juvenile glaucoma		mondoexuq1wtf				MONDO:0020367						True																				owl:Class
MONDO:0000064	biolink:NamedThing	obsolete syndromic microphthalmia		mondoexuq1wtf				MONDO:0016073						True																				owl:Class
MONDO:0009639	biolink:NamedThing	obsolete mitochondrial myopathy with lactic acidosis		mondoexuq1wtf				MONDO:0016825						True																				owl:Class
MONDO:0000861	biolink:NamedThing	obsolete tubular aggregate myopathy		mondoexuq1wtf				MONDO:0008051						True																				owl:Class
MONDO:0016728	biolink:NamedThing	obsolete cerebellar liponeurocytoma		mondoexuq1wtf				MONDO:0006131						True																				owl:Class
OIO:hasRelatedSynonym	biolink:NamedThing	has_related_synonym		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0003203	biolink:NamedThing	obsolete pituitary carcinoma		mondoexuq1wtf				MONDO:0017582						True																				owl:Class
MONDO:0022940	biolink:NamedThing	obsolete deafness hyperuricemia neurologic ataxia		mondoexuq1wtf				MONDO:0022939						True																				owl:Class
MONDO:0019184	biolink:NamedThing	obsolete ankylostomiasis		mondoexuq1wtf				MONDO:0005645						True																				owl:Class
MONDO:0005604	biolink:NamedThing	obsolete plasma cell leukemia		mondoexuq1wtf				MONDO:0018689						True																				owl:Class
MONDO:0003440	biolink:NamedThing	obsolete bladder flat intraepithelial lesion		mondoexuq1wtf				MONDO:0006111						True																				owl:Class
MONDO:0021971	biolink:NamedThing	obsolete Baraitser Rodeck garner syndrome		mondoexuq1wtf				MONDO:0009041						True																				owl:Class
MONDO:0006675	biolink:NamedThing	obsolete benign monoclonal gammopathy		mondoexuq1wtf				MONDO:0004225						True																				owl:Class
MONDO:0000278	biolink:NamedThing	obsolete Bolivian hemorrhagic fever		mondoexuq1wtf				MONDO:0017875						True																				owl:Class
MONDO:0000052	biolink:NamedThing	obsolete leukodystrophy, hypomyelinating		mondoexuq1wtf										True																				owl:Class
MONDO:0004246	biolink:NamedThing	obsolete lymphatic system disease		mondoexuq1wtf				MONDO:0005833						True																				owl:Class
MONDO:0000080	biolink:NamedThing	obsolete Oto-palato-digital syndrome		mondoexuq1wtf				MONDO:0010704		See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.".				True		DC:0000342																		owl:Class
MONDO:0007575	biolink:NamedThing	obsolete erythrokeratodermia variabilis		mondoexuq1wtf				MONDO:0017851						True																				owl:Class
MONDO:0013494	biolink:NamedThing	obsolete PSMNSW		mondoexuq1wtf				MONDO:0100226		Replacing this with a non-mendelian form of this disease.				True																https://github.com/monarch-initiative/mondo/issues/2083				owl:Class
MONDO:0000126	biolink:NamedThing	obsolete gastric cancer		mondoexuq1wtf				MONDO:0001056						True																				owl:Class
MONDO:0013126	biolink:NamedThing	obsolete Bartter syndrome, type 4B		mondoexuq1wtf				MONDO:0000909						True																				owl:Class
MONDO:0000361	biolink:NamedThing	obsolete d-2-hydroxyglutaric aciduria		mondoexuq1wtf				MONDO:0010924						True																				owl:Class
MONDO:0018693	biolink:NamedThing	obsolete kuru		mondoexuq1wtf				MONDO:0006825						True																				owl:Class
MONDO:0007010	biolink:NamedThing	obsolete uveitis		mondoexuq1wtf				MONDO:0020283						True																				owl:Class
MONDO:0006269	biolink:NamedThing	obsolete liver inflammatory myofibroblastic tumor		mondoexuq1wtf				MONDO:0004726						True																				owl:Class
MONDO:0000896	biolink:NamedThing	obsolete chronic neutrophilic leukemia		mondoexuq1wtf				MONDO:0006148						True																				owl:Class
MONDO:0006449	biolink:NamedThing	obsolete testicular yolk sac tumor		mondoexuq1wtf				MONDO:0003402						True																				owl:Class
MONDO:0015251	biolink:NamedThing	obsolete balantidiasis		mondoexuq1wtf				MONDO:0005662						True																				owl:Class
MONDO:0011859	biolink:NamedThing	obsolete distal myopathy with early respiratory muscle involvement		mondoexuq1wtf				MONDO:0011362		Obsoleted in Orphanet.				True																https://github.com/monarch-initiative/mondo/issues/2208				owl:Class
MONDO:0000183	biolink:NamedThing	obsolete hypertrophic osteoarthropathy, primary		mondoexuq1wtf				MONDO:0016620						True																				owl:Class
MONDO:0000825	biolink:NamedThing	obsolete hypomyelinating leukodystrophy		mondoexuq1wtf				MONDO:0019046						True																				owl:Class
MONDO:0020328	biolink:NamedThing	obsolete classic Hodgkin lymphoma, mixed cellularity type		mondoexuq1wtf		terms merged		MONDO:0004633						True																https://github.com/monarch-initiative/mondo/issues/3000				owl:Class
MONDO:0000357	biolink:NamedThing	obsolete West syndrome		mondoexuq1wtf				MONDO:0018097						True																				owl:Class
MONDO:0011645	biolink:NamedThing	obsolete aneurysmal bone cysts		mondoexuq1wtf		terms merged		MONDO:0018815						True																https://github.com/monarch-initiative/mondo/issues/2868				owl:Class
MONDO:0022434	biolink:NamedThing	obsolete amelia cleft lip palate hydrocephalus iris coloboma		mondoexuq1wtf				MONDO:0011052						True																				owl:Class
MONDO:0019331	biolink:NamedThing	obsolete rare form of salmonellosis		mondoexuq1wtf				MONDO:0000827		We want to remove rare X terms from Mondo.				True																https://github.com/monarch-initiative/mondo/issues/1747				owl:Class
MONDO:0012189	biolink:NamedThing	obsolete Amish infantile epilepsy syndrome		mondoexuq1wtf				MONDO:0018274		Obsoleted in the source ontologies.				True																https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082				owl:Class
MONDO:0000125	biolink:NamedThing	obsolete fundus dystrophy, pseudoinflammatory		mondoexuq1wtf										True																				owl:Class
MONDO:0022939	biolink:NamedThing	obsolete deafness hyperuricemia neurologic ataxia		mondoexuq1wtf				MONDO:0043176		Obsolete in GARD.				True																https://github.com/monarch-initiative/mondo/issues/1596				owl:Class
MONDO:0009023	biolink:NamedThing	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum		mondoexuq1wtf				MONDO:0000902						True																				owl:Class
MONDO:0019247	biolink:NamedThing	obsolete combined hyperlipidemia (including acquired and inherited)		mondoexuq1wtf				MONDO:0001807						True																				owl:Class
MONDO:0004068	biolink:NamedThing	obsolete disease of anatomical entity		mondoexuq1wtf				MONDO:0000001						True																				owl:Class
MONDO:0002668	biolink:NamedThing	obsolete gallbladder adenocarcinoma		mondoexuq1wtf				MONDO:0006215						True																				owl:Class
MONDO:0000403	biolink:NamedThing	obsolete organ system cancer		mondoexuq1wtf				MONDO:0004992						True																				owl:Class
MONDO:0020565	biolink:NamedThing	obsolete adenocarcinoma of esophagus		mondoexuq1wtf				MONDO:0005028						True																				owl:Class
MONDO:0000388	biolink:NamedThing	obsolete anonychia congenita		mondoexuq1wtf	hyponychia congenita						MONDO:0008798			True																				owl:Class
MONDO:0016313	biolink:NamedThing	obsolete renal cell carcinoma		mondoexuq1wtf				MONDO:0005086						True																				owl:Class
MONDO:0019510	biolink:NamedThing	obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia		mondoexuq1wtf				MONDO:0020726		This was a duplicate with autosomal dominant medullary cystic kidney disease without hyperuricemia.				True																https://github.com/monarch-initiative/mondo/issues/1878				owl:Class
MONDO:0000198	biolink:NamedThing	obsolete linear skin defects with multiple congenital anomalies		mondoexuq1wtf										True																				owl:Class
MONDO:0001960	biolink:NamedThing	obsolete Alpers syndrome		mondoexuq1wtf				MONDO:0008758						True																				owl:Class
MONDO:0000985	biolink:NamedThing	obsolete ehrlichiosis		mondoexuq1wtf				MONDO:0016003						True																				owl:Class
MONDO:0003533	biolink:NamedThing	obsolete gastric papillary adenocarcinoma		mondoexuq1wtf				MONDO:0006228						True																				owl:Class
MONDO:0015561	biolink:NamedThing	obsolete aleukemic mast cell leukemia		mondoexuq1wtf		terms merged		MONDO:0020334						True																https://github.com/monarch-initiative/mondo/issues/3084				owl:Class
MONDO:0017883	biolink:NamedThing	obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential		mondoexuq1wtf				MONDO:0003010						True																				owl:Class
MONDO:0005158	biolink:NamedThing	obsolete coronary heart disease		mondoexuq1wtf				MONDO:0005010						True																				owl:Class
MONDO:0000567	biolink:NamedThing	obsolete C1 inhibitor deficiency		mondoexuq1wtf				MONDO:0007361						True																				owl:Class
MONDO:0000449	biolink:NamedThing	obsolete Opitz-GBBB syndrome		mondoexuq1wtf				MONDO:0017138						True																				owl:Class
MONDO:0008897	biolink:NamedThing	obsolete tumoral calcinosis, hyperphosphatemic, familial, 1		mondoexuq1wtf				MONDO:0100251		Split this term into the more general Orphanet class and more specific OMIM term.				True																https://github.com/monarch-initiative/mondo/issues/962				owl:Class
MONDO:0023217	biolink:NamedThing	obsolete gastro-enteropancreatic neuroendocrine tumor		mondoexuq1wtf				MONDO:0015078						True																				owl:Class
MONDO:0003242	biolink:NamedThing	obsolete fibrolamellar carcinoma		mondoexuq1wtf				MONDO:0006210						True																				owl:Class
MONDO:0000656	biolink:NamedThing	obsolete alpha chain disease		mondoexuq1wtf				MONDO:0015045						True																				owl:Class
MONDO:0033196	biolink:NamedThing	obsolete skin/hair/eye pigmentation, variation in		mondoexuq1wtf										True		OMIMPS:227220																		owl:Class
MONDO:0015266	biolink:NamedThing	obsolete brucellosis		mondoexuq1wtf				MONDO:0005683						True																				owl:Class
MONDO:0000057	biolink:NamedThing	obsolete medullary cystic kidney disease		mondoexuq1wtf										True																				owl:Class
MONDO:0005548	biolink:NamedThing	obsolete malignant rhabdoid tumour		mondoexuq1wtf				MONDO:0002728						True																				owl:Class
MONDO:0002784	biolink:NamedThing	obsolete craniopharyngioma		mondoexuq1wtf				MONDO:0006175						True																				owl:Class
MONDO:0015472	biolink:NamedThing	obsolete cryptococcosis		mondoexuq1wtf				MONDO:0005724						True																				owl:Class
MONDO:0014610	biolink:NamedThing	obsolete ciliary dyskinesia, primary, 31		mondoexuq1wtf	moved to 243605			MONDO:0009477						True																				owl:Class
MONDO:0018297	biolink:NamedThing	obsolete hypotonia-speech impairment-severe cognitive delay syndrome		mondoexuq1wtf		terms merged		MONDO:0014176						True																https://github.com/monarch-initiative/mondo/issues/3417				owl:Class
MONDO:0006371	biolink:NamedThing	obsolete pineocytoma		mondoexuq1wtf				MONDO:0016723						True																				owl:Class
MONDO:0013667	biolink:NamedThing	obsolete myelodysplastic syndrome		mondoexuq1wtf				MONDO:0018881						True																				owl:Class
MONDO:0000856	biolink:NamedThing	obsolete Charcot-Marie-Tooth disease type 6		mondoexuq1wtf				MONDO:0019551						True																				owl:Class
MONDO:0003269	biolink:NamedThing	obsolete subependymal giant cell astrocytoma		mondoexuq1wtf				MONDO:0016693						True																				owl:Class
MONDO:0010009	biolink:NamedThing	obsolete SC phocomelia syndrome		mondoexuq1wtf				MONDO:0100282		This term was split into a combined parent class (Roberts-SC phocomelia syndrome) and the children classes.				True																https://github.com/monarch-initiative/mondo/issues/2553				owl:Class
MONDO:0002500	biolink:NamedThing	obsolete gliosarcoma		mondoexuq1wtf				MONDO:0016681						True																				owl:Class
MONDO:0003074	biolink:NamedThing	obsolete familial retinoblastoma		mondoexuq1wtf				MONDO:0018160						True																				owl:Class
MONDO:0006535	biolink:NamedThing	obsolete cicatricial pemphigoid		mondoexuq1wtf				MONDO:0018746						True																				owl:Class
MONDO:0006725	biolink:NamedThing	obsolete diabetic angiopathy		mondoexuq1wtf				MONDO:0000960						True																				owl:Class
MONDO:0002774	biolink:NamedThing	obsolete chordoid glioma		mondoexuq1wtf				MONDO:0016706						True																				owl:Class
MONDO:0020515	biolink:NamedThing	obsolete thymic carcinoma		mondoexuq1wtf				MONDO:0006451						True																				owl:Class
MONDO:0002591	biolink:NamedThing	obsolete dendritic cell thymoma		mondoexuq1wtf				MONDO:0016974						True																				owl:Class
MONDO:0011394	biolink:NamedThing	obsolete keratosis pilaris atrophicans		mondoexuq1wtf				MONDO:0018855						True																				owl:Class
MONDO:0006772	biolink:NamedThing	obsolete glycogen storage disease VIII		mondoexuq1wtf		terms merged		MONDO:0010598						True																https://github.com/monarch-initiative/mondo/issues/2648				owl:Class
MONDO:0016427	biolink:NamedThing	obsolete coccidioidomycosis		mondoexuq1wtf				MONDO:0005706						True																				owl:Class
MONDO:0100136	biolink:NamedThing	obsolete Fanconia anemia complementation group M	OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene.	mondoexuq1wtf	FANCM Fanconi anemia|Fanconi anemia caused by mutation in FANCM						http://purl.obolibrary.org/obo/MONDO_0019391	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/1636				owl:Class
MONDO:0000279	biolink:NamedThing	obsolete Venezuelan hemorrhagic fever		mondoexuq1wtf				MONDO:0017876						True																				owl:Class
MONDO:0005782	biolink:NamedThing	obsolete HELLP syndrome		mondoexuq1wtf				MONDO:0008585						True																				owl:Class
MONDO:0003511	biolink:NamedThing	obsolete testicular germ cell cancer		mondoexuq1wtf							MONDO:0010108			True																				owl:Class
MONDO:0020329	biolink:NamedThing	obsolete classic Hodgkin lymphoma, lymphocyte-rich type		mondoexuq1wtf		terms merged		MONDO:0004604						True																https://github.com/monarch-initiative/mondo/issues/3001				owl:Class
MONDO:0000538	biolink:NamedThing	obsolete spindle epithelial tumor with thymus-like differentiation tumor		mondoexuq1wtf				MONDO:0006466						True																				owl:Class
MONDO:0019055	biolink:NamedThing	obsolete mitochondrial disease		mondoexuq1wtf				MONDO:0004069						True																				owl:Class
MONDO:0018915	biolink:NamedThing	obsolete pneumococcal meningitis		mondoexuq1wtf				MONDO:0006913						True																				owl:Class
MONDO:0006084	biolink:NamedThing	obsolete angioleiomyoma		mondoexuq1wtf				MONDO:0006646						True																				owl:Class
MONDO:0004025	biolink:NamedThing	obsolete spinal cord embryonal tumor, not otherwise specified		mondoexuq1wtf				MONDO:0006426						True																				owl:Class
MONDO:0003020	biolink:NamedThing	obsolete orofaciodigital syndrome		mondoexuq1wtf				MONDO:0015375						True																				owl:Class
MONDO:0000852	biolink:NamedThing	obsolete hypochondrogenesis		mondoexuq1wtf				MONDO:0019669						True																				owl:Class
MONDO:0000868	biolink:NamedThing	obsolete mitochondrial DNA depletion syndrome 6		mondoexuq1wtf	mitochondrial DNA depletion syndrome type 6|MTDPS6						MONDO:0009747			True																				owl:Class
MONDO:0026754	biolink:NamedThing	obsolete histidinuria-renal tubular defect syndrome		mondoexuq1wtf				MONDO:0009346						True																				owl:Class
MONDO:0016716	biolink:NamedThing	obsolete medulloepithelioma of the central nervous system		mondoexuq1wtf				MONDO:0003144						True																				owl:Class
MONDO:0017208	biolink:NamedThing	obsolete intermediate uveitis		mondoexuq1wtf				MONDO:0006806						True																				owl:Class
MONDO:0002992	biolink:NamedThing	obsolete juvenile xanthogranuloma		mondoexuq1wtf				MONDO:0015534						True																				owl:Class
MONDO:0000869	biolink:NamedThing	obsolete congenital fibrosis of the extraocular muscles		mondoexuq1wtf				MONDO:0007614						True																				owl:Class
MONDO:0023141	biolink:NamedThing	obsolete antihypertensive drugs antenatal exposure syndrome		mondoexuq1wtf	fetal antihypertensive drugs syndrome|antihypertensive drugs antenatal exposure	https://github.com/monarch-initiative/mondo/issues/141				This term was found in the globalgenes.org rare disease list, but no information could be found about it.				True		GARD:0000733																		owl:Class
MONDO:0003015	biolink:NamedThing	obsolete malignant biphasic mesothelioma	A malignant form of malignant biphasic mesothelioma.	mondoexuq1wtf	malignant biphasic mesothelioma, malignant			MONDO:0006109						True																				owl:Class
MONDO:0006425	biolink:NamedThing	obsolete spinal chordoma		mondoexuq1wtf				MONDO:0002894						True																				owl:Class
MONDO:0001264	biolink:NamedThing	obsolete Kyasanur forest disease		mondoexuq1wtf				MONDO:0017881						True																				owl:Class
MONDO:0006434	biolink:NamedThing	obsolete Subependymoma		mondoexuq1wtf				MONDO:0007667						True																				owl:Class
MONDO:0003162	biolink:NamedThing	obsolete pilomyxoid astrocytoma		mondoexuq1wtf				MONDO:0016692						True																				owl:Class
MONDO:0000149	biolink:NamedThing	obsolete retinopathy		mondoexuq1wtf				MONDO:0005283						True																				owl:Class
MONDO:0006194	biolink:NamedThing	obsolete endometrial mucinous adenocarcinoma	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	mondoexuq1wtf				MONDO:0002747						True																				owl:Class
MONDO:0010357	biolink:NamedThing	obsolete MRX78		mondoexuq1wtf				MONDO:0010656		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1691				owl:Class
MONDO:0024385	biolink:NamedThing	obsolete arenavirus infectious disease		mondoexuq1wtf				MONDO:0005650						True																				owl:Class
MONDO:0000325	biolink:NamedThing	obsolete pachyonychia congenita		mondoexuq1wtf				MONDO:0016471						True																				owl:Class
MONDO:0019273	biolink:NamedThing	obsolete porokeratosis		mondoexuq1wtf				MONDO:0006602						True																				owl:Class
MONDO:0000792	biolink:NamedThing	obsolete zebrafish allergy		mondoexuq1wtf										True		DOID:0060517																		owl:Class
MONDO:0022652	biolink:NamedThing	obsolete cardiomyopathy dilated with conduction defect type 2		mondoexuq1wtf				MONDO:0011003		duplicate				True																https://github.com/monarch-initiative/mondo/issues/2328				owl:Class
MONDO:0016021	biolink:NamedThing	obsolete early infantile epileptic encephalopathy		mondoexuq1wtf				MONDO:0100062		This term will be renamed to 'developmental epileptic encephalopathy' in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/2027				owl:Class
MONDO:0000362	biolink:NamedThing	obsolete Sensenbrenner syndrome		mondoexuq1wtf				MONDO:0009032						True																				owl:Class
MONDO:0006305	biolink:NamedThing	obsolete mixed cell uveal melanoma		mondoexuq1wtf				MONDO:0003910						True																				owl:Class
MONDO:0000512	biolink:NamedThing	obsolete ameloblastoma		mondoexuq1wtf				MONDO:0017795						True																				owl:Class
MONDO:0019459	biolink:NamedThing	obsolete myeloid sarcoma		mondoexuq1wtf				MONDO:0006861						True																				owl:Class
MONDO:0009981	biolink:NamedThing	obsolete retinitis pigmentosa type 1		mondoexuq1wtf				MONDO:0008377						True																				owl:Class
MONDO:0100142	biolink:NamedThing	obsolete severe COVID-19 infection	A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%.	mondoexuq1wtf		Not a disease						http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0002596	biolink:NamedThing	obsolete chordoma		mondoexuq1wtf				MONDO:0008978						True																				owl:Class
MONDO:0016257	biolink:NamedThing	obsolete adenosarcoma of the corpus uteri		mondoexuq1wtf				MONDO:0002878		Duplicate				True																https://github.com/monarch-initiative/mondo/issues/372				owl:Class
MONDO:0001755	biolink:NamedThing	obsolete vaginal carcinosarcoma		mondoexuq1wtf				MONDO:0006488						True																				owl:Class
MONDO:0003521	biolink:NamedThing	obsolete VIPoma		mondoexuq1wtf				MONDO:0019960						True																				owl:Class
MONDO:0003217	biolink:NamedThing	obsolete ureter carcinoma		mondoexuq1wtf				MONDO:0006481						True																				owl:Class
MONDO:0000738	biolink:NamedThing	obsolete syndromic X-linked intellectual disability		mondoexuq1wtf				MONDO:0020119						True																				owl:Class
MONDO:0020079	biolink:NamedThing	obsolete plasma cell tumor		mondoexuq1wtf				MONDO:0004959						True																				owl:Class
MONDO:0008550	biolink:NamedThing	obsolete thoracolaryngopelvic dysplasia		mondoexuq1wtf				MONDO:0008551						True																				owl:Class
MONDO:0000097	biolink:NamedThing	obsolete thyroid dyshormonogenesis		mondoexuq1wtf										True																				owl:Class
MONDO:0000019	biolink:NamedThing	obsolete ectodermal dysplasia		mondoexuq1wtf				MONDO:0019287						True		DC:0000128																		owl:Class
MONDO:0004018	biolink:NamedThing	obsolete liver carcinoma	A carcinoma that involves the liver.	mondoexuq1wtf				MONDO:0007256						True																				owl:Class
MONDO:0001669	biolink:NamedThing	obsolete lung cancer		mondoexuq1wtf				MONDO:0008903						True																				owl:Class
MONDO:0000576	biolink:NamedThing	obsolete CD3delta deficiency		mondoexuq1wtf				MONDO:0014280						True																				owl:Class
MONDO:0005889	biolink:NamedThing	obsolete orthomyxoviridae infectious disease		mondoexuq1wtf		terms merged		MONDO:0005812						True																https://github.com/monarch-initiative/mondo/issues/3204				owl:Class
MONDO:0003520	biolink:NamedThing	obsolete malignant acrospiroma		mondoexuq1wtf				MONDO:0024245						True																				owl:Class
MONDO:0019244	biolink:NamedThing	obsolete glycogen storage disease		mondoexuq1wtf				MONDO:0002412						True																				owl:Class
MONDO:0002020	biolink:NamedThing	obsolete Blount disease		mondoexuq1wtf	obsolete Blount's disease			MONDO:0017194						True																				owl:Class
MONDO:0003667	biolink:NamedThing	obsolete spermatocytoma		mondoexuq1wtf	spermatocytic seminoma|spermatocytic seminoma (morphologic abnormality)			MONDO:0020513						True																				owl:Class
MONDO:0003207	biolink:NamedThing	obsolete eccrine adenocarcinoma		mondoexuq1wtf				MONDO:0024240						True																				owl:Class
MONDO:0002830	biolink:NamedThing	obsolete ovary transitional cell carcinoma		mondoexuq1wtf	ovary transitional cell carcinoma			MONDO:0006343						True																				owl:Class
rdfs:label	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0020085	biolink:NamedThing	obsolete mastocytosis		mondoexuq1wtf				MONDO:0007950						True																				owl:Class
MONDO:0000054	biolink:NamedThing	obsolete macular dystrophy		mondoexuq1wtf	obsolete macular dystrophy (disease)		obsolete macular dystrophy (disease)				MONDO:0020242			True																				owl:Class
MONDO:0003485	biolink:NamedThing	obsolete colon squamous cell carcinoma		mondoexuq1wtf				MONDO:0018513						True																				owl:Class
MONDO:0000194	biolink:NamedThing	obsolete Otofaciocervical syndrome		mondoexuq1wtf				MONDO:0008163						True																				owl:Class
MONDO:0007484	biolink:NamedThing	obsolete dyschromatosis universalis		mondoexuq1wtf				MONDO:0000736						True																				owl:Class
MONDO:0000145	biolink:NamedThing	obsolete premature aging syndrome		mondoexuq1wtf										True		DC:0000581																		owl:Class
MONDO:0010195	biolink:NamedThing	obsolete Weissenbacher-Zweymuller syndrome		mondoexuq1wtf				MONDO:0008490		Obsoleted in OMIM and Orphanet.				True																https://github.com/monarch-initiative/mondo/issues/1689				owl:Class
MONDO:0019425	biolink:NamedThing	obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome		mondoexuq1wtf		terms merged		MONDO:0010574						True																https://github.com/monarch-initiative/mondo/issues/2843				owl:Class
MONDO:0004179	biolink:NamedThing	obsolete astroblastoma		mondoexuq1wtf				MONDO:0016707						True																				owl:Class
MONDO:0005646	biolink:NamedThing	obsolete anisakiasis		mondoexuq1wtf				MONDO:0015200						True																				owl:Class
MONDO:0000073	biolink:NamedThing	obsolete nail disorder, nonsyndromic congenital		mondoexuq1wtf				MONDO:0019284						True																				owl:Class
MONDO:0015992	biolink:NamedThing	obsolete progressive cone dystrophy		mondoexuq1wtf				MONDO:0000455						True																				owl:Class
MONDO:0000042	biolink:NamedThing	obsolete hyperprolinemia		mondoexuq1wtf										True																				owl:Class
MONDO:0001002	biolink:NamedThing	obsolete pulmonary siderosis		mondoexuq1wtf				MONDO:0008346						True																				owl:Class
MONDO:0000533	biolink:NamedThing	obsolete vaginal carcinoma		mondoexuq1wtf				MONDO:0015867						True																				owl:Class
MONDO:0002011	biolink:NamedThing	obsolete hereditary angioedema		mondoexuq1wtf				MONDO:0019623						True																				owl:Class
MONDO:0045028	biolink:NamedThing	obsolete radiation or chemically induced disorder	A disease or disorder that is induced by either chemical or radiation exposure.	mondoexuq1wtf		out of scope								True																https://github.com/monarch-initiative/mondo/issues/3414				owl:Class
MONDO:0005930	biolink:NamedThing	obsolete postpoliomyelitis syndrome		mondoexuq1wtf				MONDO:0017416						True																				owl:Class
MONDO:0003132	biolink:NamedThing	obsolete rapidly progressive glomerulonephritis		mondoexuq1wtf				MONDO:0017236						True																				owl:Class
MONDO:0000880	biolink:NamedThing	obsolete lupus nephritis		mondoexuq1wtf				MONDO:0005556						True																				owl:Class
MONDO:0002662	biolink:NamedThing	obsolete plague		mondoexuq1wtf				MONDO:0019095						True																				owl:Class
MONDO:0010935	biolink:NamedThing	obsolete neuronopathy, distal hereditary motor, type 5A		mondoexuq1wtf				MONDO:0015353		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/2354				owl:Class
MONDO:0016992	biolink:NamedThing	obsolete peeling skin syndrome type B		mondoexuq1wtf		terms merged		MONDO:0024548						True																https://github.com/monarch-initiative/mondo/issues/2705				owl:Class
MONDO:0004097	biolink:NamedThing	obsolete lipid-rich breast carcinoma		mondoexuq1wtf				MONDO:0021090						True																				owl:Class
MONDO:0000860	biolink:NamedThing	obsolete neural tube defect		mondoexuq1wtf				MONDO:0018075						True																				owl:Class
MONDO:0034082	biolink:NamedThing	obsolete necrobiosis lipoidica		mondoexuq1wtf				MONDO:0006583						True																				owl:Class
MONDO:0023310	biolink:NamedThing	obsolete hemiplegic migraine		mondoexuq1wtf				MONDO:0018925						True																				owl:Class
MONDO:0005926	biolink:NamedThing	obsolete poliomyelitis		mondoexuq1wtf				MONDO:0017373						True																				owl:Class
MONDO:0020080	biolink:NamedThing	obsolete histiocytic and dendritic cell tumor		mondoexuq1wtf				MONDO:0006247						True																				owl:Class
MONDO:0003883	biolink:NamedThing	obsolete cerebellar liponeurocytoma		mondoexuq1wtf				MONDO:0016728						True																				owl:Class
MONDO:0010071	biolink:NamedThing	obsolete spondyloenchondrodysplasia		mondoexuq1wtf				MONDO:0011939		OMIM merged this term.				True																https://github.com/monarch-initiative/mondo/issues/1687				owl:Class
MONDO:0006177	biolink:NamedThing	obsolete cutaneous undifferentiated pleomorphic sarcoma		mondoexuq1wtf				MONDO:0002141						True																				owl:Class
MONDO:0005955	biolink:NamedThing	obsolete scrub typhus		mondoexuq1wtf				MONDO:0019365						True																				owl:Class
MONDO:0000604	biolink:NamedThing	obsolete autonomic peripheral neuropathy		mondoexuq1wtf	autonomic nervous system peripheral neuropathy			MONDO:0001300						True																				owl:Class
MONDO:0003855	biolink:NamedThing	obsolete immature teratoma of ovary		mondoexuq1wtf				MONDO:0018369						True																				owl:Class
MONDO:0000040	biolink:NamedThing	obsolete hyperphenylalaninemia, BH4-deficient		mondoexuq1wtf				MONDO:0016543						True																				owl:Class
MONDO:0004692	biolink:NamedThing	obsolete choledochal cyst		mondoexuq1wtf				MONDO:0018805						True																				owl:Class
MONDO:0004809	biolink:NamedThing	obsolete cannabis abuse		mondoexuq1wtf				MONDO:0005689						True																				owl:Class
MONDO:0000018	biolink:NamedThing	obsolete myotonic dystrophy		mondoexuq1wtf				MONDO:0016107						True																				owl:Class
MONDO:0000281	biolink:NamedThing	obsolete Chapare hemorrhagic fever		mondoexuq1wtf				MONDO:0017878						True																				owl:Class
MONDO:0021252	biolink:NamedThing	obsolete lung hilum neoplasm		mondoexuq1wtf				MONDO:0003639						True																				owl:Class
MONDO:0000582	biolink:NamedThing	obsolete immunoglobulin alpha deficiency		mondoexuq1wtf				MONDO:0000048						True																				owl:Class
MONDO:0003267	biolink:NamedThing	obsolete myxopapillary ependymoma		mondoexuq1wtf				MONDO:0016699						True																				owl:Class
MONDO:0005239	biolink:NamedThing	obsolete dedifferentiated liposarcoma		mondoexuq1wtf				MONDO:0020563						True																				owl:Class
MONDO:0003106	biolink:NamedThing	obsolete verrucous keratotic hemangioma		mondoexuq1wtf				MONDO:0018734						True																				owl:Class
MONDO:0019968	biolink:NamedThing	obsolete Osgood-Schlatter disease		mondoexuq1wtf				MONDO:0004241						True																				owl:Class
MONDO:0020330	biolink:NamedThing	obsolete classic Hodgkin lymphoma, lymphocyte-depleted type		mondoexuq1wtf		terms merged		MONDO:0004620						True																https://github.com/monarch-initiative/mondo/issues/2981				owl:Class
MONDO:0002394	biolink:NamedThing	obsolete Leydig cell tumor		mondoexuq1wtf				MONDO:0006266						True																				owl:Class
MONDO:0015598	biolink:NamedThing	obsolete acrodermatitis continua suppurativa of Hallopeau		mondoexuq1wtf		terms merged		MONDO:0013626						True																https://github.com/monarch-initiative/mondo/issues/2829				owl:Class
MONDO:0000844	biolink:NamedThing	obsolete spondyloepimetaphyseal dysplasia		mondoexuq1wtf				MONDO:0016761		Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia				True																				owl:Class
MONDO:0000546	biolink:NamedThing	obsolete parotid gland adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006356						True																				owl:Class
MONDO:0000277	biolink:NamedThing	obsolete Argentine hemorrhagic fever		mondoexuq1wtf				MONDO:0017874						True																				owl:Class
MONDO:0000579	biolink:NamedThing	obsolete coronin-1A deficiency		mondoexuq1wtf				MONDO:0014168						True																				owl:Class
MONDO:0016415	biolink:NamedThing	obsolete immunodeficiency-centromeric instability-facial anomalies syndrome		mondoexuq1wtf				MONDO:0000133						True																				owl:Class
MONDO:0009325	biolink:NamedThing	obsolete deafness-enamel hypoplasia-nail defects syndrome		mondoexuq1wtf		duplicate		MONDO:0100229						True																https://github.com/monarch-initiative/mondo/issues/2857				owl:Class
MONDO:0007954	biolink:NamedThing	obsolete May-Hegglin anomaly		mondoexuq1wtf		terms merged		MONDO:0015912						True																https://github.com/monarch-initiative/mondo/issues/1376				owl:Class
MONDO:0000391	biolink:NamedThing	obsolete Bethlem myopathy		mondoexuq1wtf				MONDO:0008029						True																				owl:Class
MONDO:0021937	biolink:NamedThing	obsolete Asrar Facharzt Haque syndrome		mondoexuq1wtf				MONDO:0011273						True																				owl:Class
MONDO:0003526	biolink:NamedThing	obsolete lung giant cell carcinoma		mondoexuq1wtf				MONDO:0006275						True																				owl:Class
MONDO:0005600	biolink:NamedThing	obsolete ovarian adenocarcinoma		mondoexuq1wtf				MONDO:0002752						True																				owl:Class
MONDO:0003213	biolink:NamedThing	obsolete ampulla of vater carcinoma		mondoexuq1wtf				MONDO:0006080						True																				owl:Class
MONDO:0016973	biolink:NamedThing	obsolete thymoma type A		mondoexuq1wtf				MONDO:0002588						True																				owl:Class
MONDO:0020171	biolink:NamedThing	obsolete palpebral tumor		mondoexuq1wtf				MONDO:0002235						True																				owl:Class
MONDO:0000206	biolink:NamedThing	obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy		mondoexuq1wtf	CADASIL|obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL									True																				owl:Class
MONDO:0006063	biolink:NamedThing	obsolete carbohydrate metabolic disorder		mondoexuq1wtf				MONDO:0019214						True																				owl:Class
MONDO:0018478	biolink:NamedThing	obsolete primary hyperoxaluria		mondoexuq1wtf				MONDO:0002474						True																				owl:Class
MONDO:0013399	biolink:NamedThing	obsolete cardiomyopathy, dilated, 1T		mondoexuq1wtf				MONDO:0000911						True																				owl:Class
MONDO:0018934	biolink:NamedThing	obsolete mucopolysaccharidosis type 1		mondoexuq1wtf				MONDO:0001586						True																				owl:Class
MONDO:0018140	biolink:NamedThing	obsolete burning mouth syndrome		mondoexuq1wtf				MONDO:0006687						True																				owl:Class
MONDO:0003877	biolink:NamedThing	obsolete cervical adenoid basal carcinoma		mondoexuq1wtf				MONDO:0006132						True																				owl:Class
MONDO:0001826	biolink:NamedThing	obsolete hypobetalipoproteinemia		mondoexuq1wtf				MONDO:0017774						True																				owl:Class
MONDO:0002384	biolink:NamedThing	obsolete transitional cell carcinoma		mondoexuq1wtf				MONDO:0006474						True																				owl:Class
MONDO:0004342	biolink:NamedThing	obsolete osteoclast-like giant cell neoplasm of the pancreas		mondoexuq1wtf				MONDO:0006479						True																				owl:Class
MONDO:0002608	biolink:NamedThing	obsolete gangliosidosis GM2		mondoexuq1wtf				MONDO:0017720						True																				owl:Class
MONDO:0001738	biolink:NamedThing	obsolete osteopetrosis		mondoexuq1wtf				MONDO:0017198						True																				owl:Class
MONDO:0004735	biolink:NamedThing	obsolete Alagille syndrome		mondoexuq1wtf										True																				owl:Class
MONDO:0018526	biolink:NamedThing	obsolete serous cystadenocarcinoma of pancreas		mondoexuq1wtf				MONDO:0003630						True																				owl:Class
MONDO:0000047	biolink:NamedThing	obsolete immunodeficiency with hyper-IgM		mondoexuq1wtf				MONDO:0003947						True																				owl:Class
MONDO:0006240	biolink:NamedThing	obsolete hemangiopericytic neoplasm		mondoexuq1wtf				MONDO:0002789						True																				owl:Class
MONDO:0007026	biolink:NamedThing	obsolete non-alcoholic fatty liver		mondoexuq1wtf				MONDO:0013209						True																				owl:Class
MONDO:0000692	biolink:NamedThing	obsolete Kleine-Levin syndrome		mondoexuq1wtf				MONDO:0007863						True																				owl:Class
MONDO:0004171	biolink:NamedThing	obsolete congenital epulis		mondoexuq1wtf				MONDO:0015528						True																				owl:Class
MONDO:0006954	biolink:NamedThing	obsolete rheumatic fever		mondoexuq1wtf				MONDO:0017767						True																				owl:Class
MONDO:0008032	biolink:NamedThing	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A		mondoexuq1wtf		terms merged		MONDO:0012215						True																https://github.com/monarch-initiative/mondo/issues/2733				owl:Class
MONDO:0001958	biolink:NamedThing	obsolete autosomal dominant cerebellar ataxia		mondoexuq1wtf				MONDO:0020380						True																				owl:Class
MONDO:0015423	biolink:NamedThing	obsolete anaplastic thyroid carcinoma	Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.	mondoexuq1wtf				MONDO:0006468						True																				owl:Class
MONDO:0000216	biolink:NamedThing	obsolete congenital bilateral aplasia of vas deferens		mondoexuq1wtf										True		DC:0000730																		owl:Class
MONDO:0022418	biolink:NamedThing	obsolete alopecia immunodeficiency		mondoexuq1wtf				MONDO:0011132		Editor note: removed from GARD, merged with MONDO:0011132				True																				owl:Class
MONDO:0009991	biolink:NamedThing	obsolete Rh deficiency syndrome		mondoexuq1wtf				MONDO:0019107						True																				owl:Class
MONDO:0005330	biolink:NamedThing	obsolete angiosarcoma		mondoexuq1wtf				MONDO:0016982						True																				owl:Class
MONDO:0002725	biolink:NamedThing	obsolete diffuse cutaneous mastocytosis		mondoexuq1wtf				MONDO:0019315						True																				owl:Class
MONDO:0000472	biolink:NamedThing	obsolete rheumatic heart disease		mondoexuq1wtf				MONDO:0006955						True																				owl:Class
MONDO:0000074	biolink:NamedThing	obsolete neurodegeneration with brain iron accumulation		mondoexuq1wtf				MONDO:0018307						True																				owl:Class
MONDO:0003226	biolink:NamedThing	obsolete Nelson syndrome		mondoexuq1wtf				MONDO:0016035						True																				owl:Class
MONDO:0005353	biolink:NamedThing	obsolete marijuana dependence	The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning.	mondoexuq1wtf				MONDO:0005689						True																				owl:Class
MONDO:0004683	biolink:NamedThing	obsolete Evans' syndrome		mondoexuq1wtf				MONDO:0016030						True																				owl:Class
MONDO:0000034	biolink:NamedThing	obsolete glomerulopathy with fibronectin deposits		mondoexuq1wtf										True																				owl:Class
MONDO:0002709	biolink:NamedThing	obsolete Kallmann syndrome		mondoexuq1wtf				MONDO:0018800						True																				owl:Class
MONDO:0000043	biolink:NamedThing	obsolete hypomagnesemia		mondoexuq1wtf				MONDO:0018100						True		DC:0000212																		owl:Class
MONDO:0008033	biolink:NamedThing	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.	mondoexuq1wtf				MONDO:0021569						True																				owl:Class
MONDO:0006587	biolink:NamedThing	obsolete nodular nonsuppurative panniculitis		mondoexuq1wtf				MONDO:0018063						True																				owl:Class
MONDO:0021720	biolink:NamedThing	obsolete fetal alcohol spectrum disorders		mondoexuq1wtf		terms merged		MONDO:0000408						True																https://github.com/monarch-initiative/mondo/issues/3393				owl:Class
MONDO:0000442	biolink:NamedThing	obsolete paramyloidosis		mondoexuq1wtf				MONDO:0007100						True																				owl:Class
MONDO:0016261	biolink:NamedThing	obsolete sarcoma of the corpus uteri		mondoexuq1wtf				MONDO:0005210						True																				owl:Class
MONDO:0007324	biolink:NamedThing	obsolete chorea		mondoexuq1wtf				MONDO:0001595						True																				owl:Class
MONDO:0010701	biolink:NamedThing	obsolete opticoacoustic nerve atrophy with dementia		mondoexuq1wtf				MONDO:0010578						True																				owl:Class
MONDO:0018986	biolink:NamedThing	obsolete leiomyosarcoma		mondoexuq1wtf				MONDO:0005058						True																				owl:Class
MONDO:0013346	biolink:NamedThing	obsolete brain calcification, Rajab type		mondoexuq1wtf				MONDO:0100215		This is a prototype term for an OMIMPS, obsoleted this term and recreated the class that is a child of th OMIMPS.				True																				owl:Class
MONDO:0011328	biolink:NamedThing	obsolete autosomal dominant limb-girdle muscular dystrophy type 1E		mondoexuq1wtf				MONDO:0018098						True																				owl:Class
MONDO:0006439	biolink:NamedThing	obsolete syringocystadenoma papilliferum		mondoexuq1wtf				MONDO:0019392						True																				owl:Class
MONDO:0001111	biolink:NamedThing	obsolete thrombotic thrombocytopenic purpura		mondoexuq1wtf				MONDO:0018896						True																				owl:Class
MONDO:0017854	biolink:NamedThing	obsolete T-b+ severe combined immunodeficiency		mondoexuq1wtf										True																				owl:Class
MONDO:0015105	biolink:NamedThing	obsolete African tick typhus		mondoexuq1wtf				MONDO:0024472						True																				owl:Class
MONDO:0003449	biolink:NamedThing	obsolete syringocystadenoma papilliferum		mondoexuq1wtf				MONDO:0006439						True																				owl:Class
MONDO:0020350	biolink:NamedThing	obsolete Miller-Fisher syndrome		mondoexuq1wtf				MONDO:0005851						True																				owl:Class
MONDO:0002439	biolink:NamedThing	obsolete stress polycythemia		mondoexuq1wtf				MONDO:0019538						True																				owl:Class
MONDO:0017777	biolink:NamedThing	obsolete rat-bite fever		mondoexuq1wtf				MONDO:0006941						True																				owl:Class
MONDO:0017702	biolink:NamedThing	obsolete glycerol kinase deficiency		mondoexuq1wtf				MONDO:0010613						True																				owl:Class
MONDO:0006568	biolink:NamedThing	obsolete Kimura disease		mondoexuq1wtf				MONDO:0018830						True																				owl:Class
MONDO:0003949	biolink:NamedThing	obsolete cervical adenoma malignum		mondoexuq1wtf				MONDO:0006140						True																				owl:Class
MONDO:0000204	biolink:NamedThing	obsolete skin creases, congenital symmetric circumferential		mondoexuq1wtf										True		DC:0000715|OMIMPS:156610																		owl:Class
MONDO:0010387	biolink:NamedThing	obsolete invasive pneumococcal disease, recurrent isolated, 2		mondoexuq1wtf				MONDO:0010386		Obsolete in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/2339				owl:Class
MONDO:0044808	biolink:NamedThing	obsolete early onset primary dystonia		mondoexuq1wtf		terms merged		MONDO:0007492						True																https://github.com/monarch-initiative/mondo/issues/2809				owl:Class
MONDO:0018057	biolink:NamedThing	obsolete toxocariasis		mondoexuq1wtf				MONDO:0005988						True																				owl:Class
MONDO:0008784	biolink:NamedThing	obsolete autoimmune hemolytic anemia		mondoexuq1wtf				MONDO:0020108						True																				owl:Class
MONDO:0017751	biolink:NamedThing	obsolete Reye syndrome		mondoexuq1wtf				MONDO:0005942						True																				owl:Class
MONDO:0001934	biolink:NamedThing	obsolete primary hypertrophic osteoarthropathy		mondoexuq1wtf				MONDO:0016620						True																				owl:Class
MONDO:0005935	biolink:NamedThing	obsolete reactive arthritis		mondoexuq1wtf				MONDO:0017376						True																				owl:Class
MONDO:0016389	biolink:NamedThing	obsolete lymphoma		mondoexuq1wtf				MONDO:0005062						True																				owl:Class
MONDO:0001486	biolink:NamedThing	obsolete Vogt-Koyanagi-Harada disease		mondoexuq1wtf				MONDO:0018092						True																				owl:Class
MONDO:0016813	biolink:NamedThing	obsolete microsporidiosis		mondoexuq1wtf				MONDO:0005846						True																				owl:Class
MONDO:0023008	biolink:NamedThing	obsolete drachtman weinblatt sitarz syndrome		mondoexuq1wtf				MONDO:0023007						True																				owl:Class
MONDO:0012632	biolink:NamedThing	obsolete Alzheimer disease 15		mondoexuq1wtf		terms merged		MONDO:0011401						True																https://github.com/monarch-initiative/mondo/issues/2767				owl:Class
MONDO:0000185	biolink:NamedThing	obsolete polyposis syndrome, hereditary mixed		mondoexuq1wtf										True																				owl:Class
MONDO:0017908	biolink:NamedThing	obsolete hyperekplexia		mondoexuq1wtf				MONDO:0017658						True																				owl:Class
MONDO:0000418	biolink:NamedThing	obsolete Ohtahara syndrome		mondoexuq1wtf				MONDO:0016021						True																				owl:Class
MONDO:0021684	biolink:NamedThing	obsolete infectious disease of central nervous system		mondoexuq1wtf				MONDO:0024619						True																				owl:Class
MONDO:0100145	biolink:NamedThing	obsolete presymptomatic COVID-19 infection	A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on.	mondoexuq1wtf		Not a disease					MONDO:0100096	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0015098	biolink:NamedThing	obsolete situs inversus totalis		mondoexuq1wtf	obsolete situs inversus totalis (disease)		obsolete situs inversus totalis (disease)	MONDO:0010029						True																				owl:Class
MONDO:0002458	biolink:NamedThing	obsolete acute pancreatitis		mondoexuq1wtf				MONDO:0006515						True																				owl:Class
MONDO:0019001	biolink:NamedThing	obsolete biotin-responsive basal ganglia disease		mondoexuq1wtf				MONDO:0011841						True																				owl:Class
MONDO:0010715	biolink:NamedThing	obsolete pseudohermaphroditism, incomplete male, type 1		mondoexuq1wtf				MONDO:0010720		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1697				owl:Class
MONDO:0000317	biolink:NamedThing	obsolete foodborne botulism		mondoexuq1wtf				MONDO:0016453						True																				owl:Class
MONDO:0001759	biolink:NamedThing	obsolete patent foramen ovale		mondoexuq1wtf				MONDO:0020439						True																				owl:Class
MONDO:0003224	biolink:NamedThing	obsolete spindle cell hemangioma		mondoexuq1wtf				MONDO:0016222						True																				owl:Class
MONDO:0020335	biolink:NamedThing	obsolete desquamative interstitial pneumonia		mondoexuq1wtf				MONDO:0009887						True																				owl:Class
MONDO:0000106	biolink:NamedThing	obsolete apnea		mondoexuq1wtf	obsolete apnea (disease)|apnea		obsolete apnea (disease)							True		DC:0000472																		owl:Class
MONDO:0019030	biolink:NamedThing	obsolete Acanthamoeba keratitis		mondoexuq1wtf				MONDO:0005629						True																				owl:Class
MONDO:0003814	biolink:NamedThing	obsolete gastric diffuse adenocarcinoma		mondoexuq1wtf				MONDO:0005017						True																				owl:Class
MONDO:0003496	biolink:NamedThing	obsolete endometrial squamous cell carcinoma		mondoexuq1wtf				MONDO:0006198						True																				owl:Class
MONDO:0001550	biolink:NamedThing	obsolete Duane retraction syndrome		mondoexuq1wtf				MONDO:0007473						True																				owl:Class
MONDO:0006503	biolink:NamedThing	obsolete episodic ataxia		mondoexuq1wtf				MONDO:0016227						True																				owl:Class
MONDO:0005931	biolink:NamedThing	obsolete progressive multifocal leukoencephalopathy		mondoexuq1wtf				MONDO:0016318						True																				owl:Class
MONDO:0003339	biolink:NamedThing	obsolete hepatoerythropoietic porphyria		mondoexuq1wtf				MONDO:0019799						True																				owl:Class
MONDO:0003071	biolink:NamedThing	obsolete epidermolysis bullosa simplex		mondoexuq1wtf				MONDO:0017610						True																				owl:Class
MONDO:0005368	biolink:NamedThing	obsolete obsessive-compulsive disorder		mondoexuq1wtf				MONDO:0008114						True																				owl:Class
MONDO:0004623	biolink:NamedThing	obsolete prostate carcinoma in situ		mondoexuq1wtf				MONDO:0006234						True																				owl:Class
MONDO:0000420	biolink:NamedThing	obsolete cerebral folate receptor alpha deficiency		mondoexuq1wtf				MONDO:0013110						True																				owl:Class
MONDO:0000862	biolink:NamedThing	obsolete reducing body myopathy		mondoexuq1wtf				MONDO:0019948						True																				owl:Class
MONDO:0000260	biolink:NamedThing	obsolete Kartagener syndrome		mondoexuq1wtf				MONDO:0016575						True																				owl:Class
MONDO:0005171	biolink:NamedThing	obsolete chronic myeloproliferative disorder	Chronic form of myeloproliferative neoplasm.	mondoexuq1wtf				MONDO:0020076						True																				owl:Class
MONDO:0005633	biolink:NamedThing	obsolete acute disseminated encephalomyelitis		mondoexuq1wtf				MONDO:0019383						True																				owl:Class
MONDO:0002573	biolink:NamedThing	obsolete pleomorphic rhabdomyosarcoma		mondoexuq1wtf				MONDO:0017386						True																				owl:Class
MONDO:0024351	biolink:NamedThing	obsolete familial pityriasis rubra pilaris		mondoexuq1wtf		terms merged		MONDO:0008251						True																https://github.com/monarch-initiative/mondo/issues/3470				owl:Class
MONDO:0019477	biolink:NamedThing	obsolete angioimmunoblastic T-cell lymphoma		mondoexuq1wtf				MONDO:0004977						True																				owl:Class
MONDO:0002686	biolink:NamedThing	obsolete mast-cell sarcoma		mondoexuq1wtf				MONDO:0019024						True																				owl:Class
MONDO:0019057	biolink:NamedThing	obsolete rare constitutional aplastic anemia		mondoexuq1wtf				MONDO:0001713						True																				owl:Class
MONDO:0003247	biolink:NamedThing	obsolete pineal parenchymal tumor of intermediate differentiation		mondoexuq1wtf				MONDO:0006369						True																				owl:Class
MONDO:0019663	biolink:NamedThing	obsolete short rib-polydactyly syndrome, Saldino-Noonan type		mondoexuq1wtf		terms merged		MONDO:0013127						True																https://github.com/monarch-initiative/mondo/issues/1376				owl:Class
MONDO:0005205	biolink:NamedThing	obsolete systemic lupus erythematosus		mondoexuq1wtf				MONDO:0007915						True																				owl:Class
MONDO:0006822	biolink:NamedThing	obsolete Klatskin's tumor		mondoexuq1wtf				MONDO:0003345						True																				owl:Class
MONDO:0018886	biolink:NamedThing	obsolete listeriosis		mondoexuq1wtf				MONDO:0005828						True																				owl:Class
MONDO:0005622	biolink:NamedThing	obsolete vasculitis		mondoexuq1wtf				MONDO:0018882						True																				owl:Class
MONDO:0002228	biolink:NamedThing	obsolete malignant ovarian surface epithelial-stromal neoplasm		mondoexuq1wtf				MONDO:0018364						True																				owl:Class
MONDO:0004791	biolink:NamedThing	obsolete lipid storage disease		mondoexuq1wtf				MONDO:0019245						True																				owl:Class
MONDO:0000134	biolink:NamedThing	obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia		mondoexuq1wtf				MONDO:0000507						True																				owl:Class
MONDO:0004002	biolink:NamedThing	obsolete pancreatoblastoma		mondoexuq1wtf				MONDO:0019035						True																				owl:Class
MONDO:0001069	biolink:NamedThing	obsolete leukodystrophy		mondoexuq1wtf				MONDO:0019046						True																				owl:Class
MONDO:0018517	biolink:NamedThing	obsolete obsolete carcinoma of the anal canal		mondoexuq1wtf				MONDO:0007108						True																				owl:Class
MONDO:0019279	biolink:NamedThing	obsolete alopecia		mondoexuq1wtf				MONDO:0004907						True																				owl:Class
MONDO:0002292	biolink:NamedThing	obsolete granular cell tumor		mondoexuq1wtf				MONDO:0006235						True																				owl:Class
MONDO:0000699	biolink:NamedThing	obsolete homocarnosinosis		mondoexuq1wtf				MONDO:0009351						True																				owl:Class
MONDO:0002539	biolink:NamedThing	obsolete oligodendroglioma		mondoexuq1wtf				MONDO:0016695						True																				owl:Class
MONDO:0010766	biolink:NamedThing	obsolete 46,XX sex reversal 1		mondoexuq1wtf				MONDO:0100250		Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045).				True																				owl:Class
MONDO:0007069	biolink:NamedThing	obsolete Adie syndrome		mondoexuq1wtf				MONDO:0018690						True																				owl:Class
MONDO:0000024	biolink:NamedThing	obsolete exostoses, multiple		mondoexuq1wtf				MONDO:0005508						True																				owl:Class
MONDO:0000228	biolink:NamedThing	obsolete Astrakhan spotted fever		mondoexuq1wtf				MONDO:0005677						True																				owl:Class
MONDO:0002826	biolink:NamedThing	obsolete tuberculosis		mondoexuq1wtf				MONDO:0018076						True																				owl:Class
MONDO:0004590	biolink:NamedThing	obsolete fundus dystrophy		mondoexuq1wtf				MONDO:0019118						True																				owl:Class
MONDO:0021188	biolink:NamedThing	obsolete hemangiopericytoma		mondoexuq1wtf				MONDO:0005094						True																				owl:Class
MONDO:0003102	biolink:NamedThing	obsolete perineurioma		mondoexuq1wtf				MONDO:0019404						True																				owl:Class
MONDO:0002391	biolink:NamedThing	obsolete skin sarcoma		mondoexuq1wtf				MONDO:0006414						True																				owl:Class
MONDO:0006756	biolink:NamedThing	obsolete extracutaneous mastocytoma		mondoexuq1wtf				MONDO:0019025						True																				owl:Class
MONDO:0011447	biolink:NamedThing	obsolete epilepsy, familial focal, with variable foci		mondoexuq1wtf				MONDO:0000215						True																				owl:Class
MONDO:0002079	biolink:NamedThing	obsolete neuroendocrine tumor		mondoexuq1wtf				MONDO:0019496						True																				owl:Class
MONDO:0000655	biolink:NamedThing	obsolete heavy chain disease		mondoexuq1wtf				MONDO:0019464						True																				owl:Class
MONDO:0004576	biolink:NamedThing	obsolete pellagra		mondoexuq1wtf				MONDO:0019975						True																				owl:Class
MONDO:0008360	biolink:NamedThing	obsolete radioulnar synostosis		mondoexuq1wtf	obsolete radioulnar synostosis (disease)		obsolete radioulnar synostosis (disease)	MONDO:0017985						True																				owl:Class
MONDO:0014849	biolink:NamedThing	obsolete autosomal recessive nonsyndromic deafness 105		mondoexuq1wtf		terms merged		MONDO:0012091						True																https://github.com/monarch-initiative/mondo/issues/3098				owl:Class
MONDO:0000349	biolink:NamedThing	obsolete Charcot-Marie-Tooth disease type 1		mondoexuq1wtf				MONDO:0019011						True																				owl:Class
MONDO:0016714	biolink:NamedThing	obsolete ganglioneuroblastoma		mondoexuq1wtf				MONDO:0005035						True																				owl:Class
MONDO:0000427	biolink:NamedThing	obsolete autosomal recessive disease		mondoexuq1wtf				MONDO:0006025						True																				owl:Class
MONDO:0000822	biolink:NamedThing	obsolete lymphoproliferative syndrome		mondoexuq1wtf				MONDO:0016537						True																				owl:Class
MONDO:0000157	biolink:NamedThing	obsolete episodic pain syndrome, familial		mondoexuq1wtf										True		DC:0000616																		owl:Class
MONDO:0002825	biolink:NamedThing	obsolete Meige syndrome		mondoexuq1wtf				MONDO:0019772						True																				owl:Class
MONDO:0003498	biolink:NamedThing	obsolete gallbladder squamous cell carcinoma		mondoexuq1wtf				MONDO:0006220						True																				owl:Class
MONDO:0003380	biolink:NamedThing	obsolete endometrial clear cell adenocarcinoma		mondoexuq1wtf				MONDO:0006191						True																				owl:Class
MONDO:0007117	biolink:NamedThing	obsolete angioedema, hereditary, type 1/2		mondoexuq1wtf				MONDO:0033946						True																https://github.com/monarch-initiative/mondo/issues/1628				owl:Class
MONDO:0024267	biolink:NamedThing	obsolete epidemic encephalitis		mondoexuq1wtf				MONDO:0019384						True																				owl:Class
MONDO:0020255	biolink:NamedThing	obsolete oculomotor palsy		mondoexuq1wtf				MONDO:0001309						True																				owl:Class
MONDO:0005088	biolink:NamedThing	obsolete rheumatoid arthritis		mondoexuq1wtf				MONDO:0008383						True																				owl:Class
OBO:mondo#excluded_subClassOf	biolink:NamedThing	excluded subClassOf		mondoexuq1wtf																True														owl:AnnotationProperty
MONDO:0000130	biolink:NamedThing	obsolete hypercarotenemia and vitamin a deficiency		mondoexuq1wtf										True																				owl:Class
MONDO:0000564	biolink:NamedThing	obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome		mondoexuq1wtf				MONDO:0009133						True																				owl:Class
MONDO:0003201	biolink:NamedThing	obsolete esophagus adenocarcinoma		mondoexuq1wtf				MONDO:0005028						True																				owl:Class
MONDO:0003798	biolink:NamedThing	obsolete epithelioid sarcoma		mondoexuq1wtf				MONDO:0017387						True																				owl:Class
MONDO:0020810	biolink:NamedThing	obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome		mondoexuq1wtf		terms merged		MONDO:0020628						True																https://github.com/monarch-initiative/mondo/issues/767				owl:Class
MONDO:0008279	biolink:NamedThing	obsolete familial adenomatous polyposis type 1		mondoexuq1wtf				MONDO:0021055						True																				owl:Class
MONDO:0006127	biolink:NamedThing	obsolete cecum villous adenoma		mondoexuq1wtf				MONDO:0000525						True																				owl:Class
MONDO:0007582	biolink:NamedThing	obsolete Cockayne syndrome B		mondoexuq1wtf				MONDO:0019570						True																				owl:Class
MONDO:0019592	biolink:NamedThing	obsolete disorder of sex development	In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.	mondoexuq1wtf				MONDO:0002145						True																				owl:Class
MONDO:0000312	biolink:NamedThing	obsolete enlarged vestibular aqueduct		mondoexuq1wtf				MONDO:0023069						True																				owl:Class
MONDO:0004434	biolink:NamedThing	obsolete glomangiomyoma		mondoexuq1wtf				MONDO:0002299						True																				owl:Class
MONDO:0000028	biolink:NamedThing	obsolete epilepsy, hot water		mondoexuq1wtf				MONDO:0013229						True																				owl:Class
MONDO:0010530	biolink:NamedThing	obsolete anus, imperforate		mondoexuq1wtf				MONDO:0001046						True																				owl:Class
MONDO:0012065	biolink:NamedThing	obsolete Stevens-Johnson syndrome		mondoexuq1wtf				MONDO:0018229						True																				owl:Class
MONDO:0006667	biolink:NamedThing	obsolete B- and T-cell mixed leukemia		mondoexuq1wtf				MONDO:0020322						True																				owl:Class
MONDO:0022857	biolink:NamedThing	obsolete continuous muscle fiber activity hereditary		mondoexuq1wtf				MONDO:0019943						True																				owl:Class
MONDO:0005573	biolink:NamedThing	obsolete type II hypersensitivity reaction disease		mondoexuq1wtf				MONDO:0007179						True																				owl:Class
MONDO:0000280	biolink:NamedThing	obsolete Brazilian hemorrhagic fever		mondoexuq1wtf				MONDO:0017877						True																				owl:Class
MONDO:0000435	biolink:NamedThing	obsolete splenic marginal zone lymphoma		mondoexuq1wtf				MONDO:0006431						True																				owl:Class
MONDO:0000876	biolink:NamedThing	obsolete herpes simplex virus keratitis		mondoexuq1wtf				MONDO:0015288						True																				owl:Class
MONDO:0015460	biolink:NamedThing	obsolete adrenocortical carcinoma	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	mondoexuq1wtf				MONDO:0006639						True																				owl:Class
MONDO:0010303	biolink:NamedThing	obsolete colobomatous microphthalmia		mondoexuq1wtf				MONDO:0000170		Duplicate.				True																https://github.com/monarch-initiative/mondo/issues/2533				owl:Class
MONDO:0000818	biolink:NamedThing	obsolete lethal congenital contracture syndrome 4		mondoexuq1wtf				MONDO:0013965						True																				owl:Class
MONDO:0000730	biolink:NamedThing	obsolete pontocerebellar hypoplasia		mondoexuq1wtf				MONDO:0020135						True																				owl:Class
MONDO:0006695	biolink:NamedThing	obsolete cervical rib syndrome		mondoexuq1wtf				MONDO:0007303						True																				owl:Class
MONDO:0001425	biolink:NamedThing	obsolete Rett syndrome		mondoexuq1wtf				MONDO:0010726						True																				owl:Class
MONDO:0015956	biolink:NamedThing	obsolete rare hereditary ataxia	Rare hereditary ataxia.	mondoexuq1wtf				MONDO:0000557						True																				owl:Class
MONDO:0006101	biolink:NamedThing	obsolete Bartholin gland squamous cell carcinoma		mondoexuq1wtf				MONDO:0004053						True																				owl:Class
MONDO:0006472	biolink:NamedThing	obsolete tracheal carcinoma		mondoexuq1wtf				MONDO:0003184						True																				owl:Class
MONDO:0018176	biolink:NamedThing	obsolete polymicrogyria		mondoexuq1wtf				MONDO:0000087						True																				owl:Class
MONDO:0006289	biolink:NamedThing	obsolete malignant epitheloid mesothelioma		mondoexuq1wtf										True		EFO:1000351																		owl:Class
MONDO:0020471	biolink:NamedThing	obsolete pituitary adenoma		mondoexuq1wtf				MONDO:0006373						True																				owl:Class
MONDO:0004061	biolink:NamedThing	obsolete mitochondrial myopathy		mondoexuq1wtf				MONDO:0009637						True																				owl:Class
MONDO:0000560	biolink:NamedThing	obsolete spinocerebellar ataxia type 4		mondoexuq1wtf				MONDO:0010847						True																				owl:Class
MONDO:0000555	biolink:NamedThing	obsolete autosomal recessive hypophosphatemic rickets		mondoexuq1wtf				MONDO:0017324						True																				owl:Class
MONDO:0002302	biolink:NamedThing	obsolete acromegaly		mondoexuq1wtf				MONDO:0019933						True																				owl:Class
MONDO:0023303	biolink:NamedThing	obsolete Hamanishi-Ueba-Tsuji syndrome		mondoexuq1wtf				MONDO:0008809						True																				owl:Class
MONDO:0010616	biolink:NamedThing	obsolete hypogonadism, male		mondoexuq1wtf				MONDO:0009421						True																				owl:Class
MONDO:0003552	biolink:NamedThing	obsolete adenosquamous gallbladder carcinoma		mondoexuq1wtf				MONDO:0006217						True																				owl:Class
MONDO:0002097	biolink:NamedThing	obsolete ocular melanoma		mondoexuq1wtf				MONDO:0006325						True																				owl:Class
MONDO:0013816	biolink:NamedThing	obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques		mondoexuq1wtf				MONDO:0019014		There appeared to be duplicate terms from Orphanet and OMIM, which should be combined into one class.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0005869	biolink:NamedThing	obsolete myiasis		mondoexuq1wtf				MONDO:0019147						True																				owl:Class
MONDO:0006016	biolink:NamedThing	obsolete West Nile encephalitis		mondoexuq1wtf				MONDO:0019376						True																				owl:Class
MONDO:0003166	biolink:NamedThing	obsolete pilocytic astrocytoma		mondoexuq1wtf				MONDO:0016691						True																				owl:Class
MONDO:0005612	biolink:NamedThing	obsolete ovarian leiomyosarcoma		mondoexuq1wtf				MONDO:0003355						True																				owl:Class
MONDO:0014852	biolink:NamedThing	obsolete palmoplantar carcinoma, multiple self-healing		mondoexuq1wtf				MONDO:0014089		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/1711				owl:Class
MONDO:0002005	biolink:NamedThing	obsolete acrodysostosis		mondoexuq1wtf				MONDO:0019797						True																				owl:Class
MONDO:0000029	biolink:NamedThing	obsolete corticosterone methyloxidase deficiency		mondoexuq1wtf										True																				owl:Class
MONDO:0002502	biolink:NamedThing	obsolete giant cell glioblastoma		mondoexuq1wtf				MONDO:0016682						True																				owl:Class
MONDO:0024486	biolink:NamedThing	obsolete familial chronic mucocutaneous candidiasis		mondoexuq1wtf				MONDO:0015279						True																				owl:Class
MONDO:0000033	biolink:NamedThing	obsolete frontonasal dysplasia		mondoexuq1wtf				MONDO:0016643						True																				owl:Class
MONDO:0022145	biolink:NamedThing	obsolete Chiari malformation type II		mondoexuq1wtf				MONDO:0008816						True																				owl:Class
MONDO:0002895	biolink:NamedThing	obsolete dentinogenesis imperfecta		mondoexuq1wtf				MONDO:0018849						True																				owl:Class
MONDO:0006332	biolink:NamedThing	obsolete ovarian choriocarcinoma		mondoexuq1wtf				MONDO:0003507						True																				owl:Class
MONDO:0006259	biolink:NamedThing	obsolete juvenile xanthogranuloma		mondoexuq1wtf				MONDO:0015534						True																				owl:Class
MONDO:0002007	biolink:NamedThing	obsolete VACTERL association		mondoexuq1wtf				MONDO:0008642						True																				owl:Class
MONDO:0000523	biolink:NamedThing	obsolete conjunctival nevus		mondoexuq1wtf				MONDO:0006172						True																				owl:Class
MONDO:0006494	biolink:NamedThing	obsolete thyroid disease		mondoexuq1wtf				MONDO:0003240						True																				owl:Class
MONDO:0005781	biolink:NamedThing	obsolete hantavirus pulmonary syndrome		mondoexuq1wtf				MONDO:0017879						True																				owl:Class
MONDO:0006376	biolink:NamedThing	obsolete plantar fibromatosis	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	mondoexuq1wtf				MONDO:0004684						True																				owl:Class
MONDO:0000058	biolink:NamedThing	obsolete melanoma, cutaneous malignant		mondoexuq1wtf							MONDO:0024462			True		DC:0000271																		owl:Class
MONDO:0005577	biolink:NamedThing	obsolete narcolepsy without cataplexy		mondoexuq1wtf				MONDO:0019371						True																				owl:Class
MONDO:0002584	biolink:NamedThing	obsolete syringomyelia		mondoexuq1wtf				MONDO:0017987						True																				owl:Class
MONDO:0002392	biolink:NamedThing	obsolete lymphangiosarcoma		mondoexuq1wtf				MONDO:0006282						True																				owl:Class
MONDO:0004084	biolink:NamedThing	obsolete uveal epithelioid cell melanoma		mondoexuq1wtf				MONDO:0006200						True																				owl:Class
IAO:0000115	biolink:NamedThing	definition		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0006333	biolink:NamedThing	obsolete ovarian dysgerminoma		mondoexuq1wtf				MONDO:0003481						True																				owl:Class
MONDO:0000084	biolink:NamedThing	obsolete pigmented nodular adrenocortical disease		mondoexuq1wtf				MONDO:0015999						True																				owl:Class
MONDO:0016519	biolink:NamedThing	obsolete keratosis follicularis spinulosa decalvans		mondoexuq1wtf				MONDO:0000136						True																				owl:Class
MONDO:0009160	biolink:NamedThing	obsolete Ehlers-Danlos syndrome, type 6		mondoexuq1wtf				MONDO:0016002						True																				owl:Class
MONDO:0010419	biolink:NamedThing	obsolete X-linked sideroblastic anemia		mondoexuq1wtf				MONDO:0020721		This term is duplicative with X-linked sideroblastic anemia 1.				True																https://github.com/monarch-initiative/mondo/issues/2107				owl:Class
MONDO:0000020	biolink:NamedThing	obsolete elliptocytosis		mondoexuq1wtf				MONDO:0017319						True																				owl:Class
MONDO:0016694	biolink:NamedThing	obsolete Pituicytoma		mondoexuq1wtf				MONDO:0006372						True																				owl:Class
MONDO:0000175	biolink:NamedThing	obsolete ataxia-telangiectasia-like disorder		mondoexuq1wtf				MONDO:0011457						True																				owl:Class
MONDO:0019616	biolink:NamedThing	obsolete germinoma of the central nervous system		mondoexuq1wtf				MONDO:0002999						True																				owl:Class
MONDO:0000202	biolink:NamedThing	obsolete Heimler syndrome		mondoexuq1wtf							MONDO:0100259			True																				owl:Class
MONDO:0000593	biolink:NamedThing	obsolete autoimmune disease of skin and connective tissue		mondoexuq1wtf				MONDO:0017841						True																				owl:Class
MONDO:0023065	biolink:NamedThing	obsolete encephalopathy recurrent of childhood		mondoexuq1wtf				MONDO:0007539		Duplicate.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0007076	biolink:NamedThing	obsolete ocular albinism with sensorineural deafness		mondoexuq1wtf				MONDO:0018138						True																				owl:Class
MONDO:0018650	biolink:NamedThing	obsolete hemochromatosis type 5		mondoexuq1wtf				MONDO:0014225						True																				owl:Class
MONDO:0002700	biolink:NamedThing	obsolete epithelioid trophoblastic tumor		mondoexuq1wtf				MONDO:0016787						True																				owl:Class
MONDO:0000826	biolink:NamedThing	obsolete syndromic X-linked intellectual disability Cabezas type		mondoexuq1wtf				MONDO:0010306						True																				owl:Class
MONDO:0006064	biolink:NamedThing	obsolete lactose intolerance		mondoexuq1wtf				MONDO:0009116						True																				owl:Class
MONDO:0002524	biolink:NamedThing	obsolete hyperlipoproteinemia type III		mondoexuq1wtf				MONDO:0018473						True																				owl:Class
MONDO:0006959	biolink:NamedThing	obsolete Schnitzler syndrome		mondoexuq1wtf				MONDO:0018304						True																				owl:Class
MONDO:0018836	biolink:NamedThing	obsolete subcorneal pustular dermatosis		mondoexuq1wtf				MONDO:0006614						True																				owl:Class
MONDO:0005513	biolink:NamedThing	obsolete methylmalonic aciduria and homocystinuria type cblE		mondoexuq1wtf				MONDO:0009354						True																				owl:Class
MONDO:0004921	biolink:NamedThing	obsolete Omsk hemorrhagic fever		mondoexuq1wtf				MONDO:0017882						True																				owl:Class
MONDO:0017115	biolink:NamedThing	obsolete bifid nose		mondoexuq1wtf				MONDO:0000110						True																				owl:Class
MONDO:0005378	biolink:NamedThing	obsolete neuromyelitis optica		mondoexuq1wtf				MONDO:0019100						True																				owl:Class
MONDO:0002248	biolink:NamedThing	obsolete myeloproliferative neoplasm		mondoexuq1wtf				MONDO:0020076						True																				owl:Class
MONDO:0010376	biolink:NamedThing	obsolete Brooks-Wisniewski-brown syndrome		mondoexuq1wtf				MONDO:0010407		Obsoleted in OMIM and GARD.				True																https://github.com/monarch-initiative/mondo/issues/696				owl:Class
MONDO:0009314	biolink:NamedThing	obsolete GTP-cyclohydrolase I deficiency		mondoexuq1wtf				MONDO:0100186		Created new term for GTP Cyclohydrolase I deficiency with hyperphenylalaninemia and created grouping class named GTP Cyclohydrolase I deficiency. Obsoleted this to avoid confusion with the new grouping class and the class this was renamed to.				True																https://github.com/monarch-initiative/mondo/issues/1491				owl:Class
MONDO:0005760	biolink:NamedThing	obsolete fibroepithelial neoplasm		mondoexuq1wtf				MONDO:0021045						True																				owl:Class
MONDO:0002390	biolink:NamedThing	obsolete ossifying fibromyxoid tumor		mondoexuq1wtf				MONDO:0006330						True																				owl:Class
MONDO:0002276	biolink:NamedThing	obsolete arteriosclerotic cardiovascular disease		mondoexuq1wtf				MONDO:0002277						True																				owl:Class
MONDO:0007596	biolink:NamedThing	obsolete factor VIII deficiency		mondoexuq1wtf				MONDO:0010602						True																				owl:Class
MONDO:0006910	biolink:NamedThing	obsolete pituitary-dependent Cushing disease		mondoexuq1wtf				MONDO:0020528		Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS				True																				owl:Class
MONDO:0002690	biolink:NamedThing	obsolete meningioma		mondoexuq1wtf				MONDO:0016642						True																				owl:Class
MONDO:0000289	biolink:NamedThing	obsolete selective IgM deficiency disease		mondoexuq1wtf				MONDO:0018039						True																				owl:Class
MONDO:0005228	biolink:NamedThing	obsolete anaplastic large cell lymphoma		mondoexuq1wtf				MONDO:0020325						True																				owl:Class
MONDO:0000691	biolink:NamedThing	obsolete pain disorder		mondoexuq1wtf				MONDO:0021668						True																				owl:Class
MONDO:0015563	biolink:NamedThing	obsolete blue cone monochromatism		mondoexuq1wtf				MONDO:0010563						True																				owl:Class
MONDO:0000614	biolink:NamedThing	obsolete estrogen-receptor negative breast cancer		mondoexuq1wtf				MONDO:0006513						True																				owl:Class
MONDO:0000038	biolink:NamedThing	obsolete hyper-IgE recurrent infection syndrome		mondoexuq1wtf						See text of OMIM 147060.	MONDO:0018037			True		DC:0000192																		owl:Class
MONDO:0003094	biolink:NamedThing	obsolete mucoepidermoid thyroid carcinoma		mondoexuq1wtf				MONDO:0006463						True																				owl:Class
MONDO:0003807	biolink:NamedThing	obsolete follicular thyroid adenoma		mondoexuq1wtf				MONDO:0005032						True																				owl:Class
MONDO:0008664	biolink:NamedThing	obsolete autosomal dominant neovascular inflammatory vitreoretinopathy		mondoexuq1wtf		terms merged		MONDO:0006928						True																https://github.com/monarch-initiative/mondo/issues/3110				owl:Class
MONDO:0000121	biolink:NamedThing	obsolete emphysema		mondoexuq1wtf				MONDO:0005024						True																				owl:Class
MONDO:0001354	biolink:NamedThing	obsolete acute endophthalmitis		mondoexuq1wtf				MONDO:0017202						True																				owl:Class
MONDO:0003188	biolink:NamedThing	obsolete juvenile myoclonic epilepsy		mondoexuq1wtf				MONDO:0009696						True																				owl:Class
MONDO:0004515	biolink:NamedThing	obsolete olfactory neural tumor		mondoexuq1wtf				MONDO:0002722						True																				owl:Class
MONDO:0019382	biolink:NamedThing	obsolete Colorado tick fever		mondoexuq1wtf				MONDO:0005708						True																				owl:Class
MONDO:0000067	biolink:NamedThing	obsolete mitochondrial DNA depletion syndrome		mondoexuq1wtf				MONDO:0018158						True																				owl:Class
MONDO:0044716	biolink:NamedThing	obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		mondoexuq1wtf				MONDO:0030912						True																				owl:Class
MONDO:0019381	biolink:NamedThing	obsolete eastern equine encephalitis		mondoexuq1wtf				MONDO:0005736						True																				owl:Class
MONDO:0008820	biolink:NamedThing	obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies		mondoexuq1wtf		terms merged		MONDO:0014243						True																https://github.com/monarch-initiative/mondo/issues/2836				owl:Class
MONDO:0005241	biolink:NamedThing	obsolete adrenocortical carcinoma		mondoexuq1wtf	obsolete adrenocortical carcinoma (disease)		obsolete adrenocortical carcinoma (disease)	MONDO:0006639						True																				owl:Class
MONDO:0007326	biolink:NamedThing	obsolete paroxysmal nonkinesigenic dyskinesia 1		mondoexuq1wtf		term split		MONDO:0700089						True																https://github.com/monarch-initiative/mondo/issues/3265				owl:Class
MONDO:0000917	biolink:NamedThing	obsolete thyroid lymphoma		mondoexuq1wtf				MONDO:0019962						True																				owl:Class
MONDO:0002431	biolink:NamedThing	obsolete nonspecific interstitial pneumonia		mondoexuq1wtf				MONDO:0019622						True																				owl:Class
MONDO:0000059	biolink:NamedThing	obsolete methylmalonic aciduria and homocystinuria		mondoexuq1wtf				MONDO:0016826						True																				owl:Class
MONDO:0017253	biolink:NamedThing	obsolete anterior uveitis		mondoexuq1wtf				MONDO:0006651						True																				owl:Class
MONDO:0000906	biolink:NamedThing	obsolete Alzheimer disease 5		mondoexuq1wtf	obsolete Alzheimer's disease 5			MONDO:0011194						True																				owl:Class
MONDO:0015865	biolink:NamedThing	obsolete benign tumor of fallopian tubes		mondoexuq1wtf				MONDO:0000645						True																				owl:Class
MONDO:0006724	biolink:NamedThing	obsolete desmoplastic small round cell tumor		mondoexuq1wtf				MONDO:0019373						True																				owl:Class
MONDO:0004011	biolink:NamedThing	obsolete familial melanoma		mondoexuq1wtf				MONDO:0018961						True																				owl:Class
MONDO:0013019	biolink:NamedThing	obsolete spondyloepimetaphyseal dysplasia, Pakistani type		mondoexuq1wtf				MONDO:0019666						True																				owl:Class
MONDO:0011388	biolink:NamedThing	obsolete cervical cancer		mondoexuq1wtf	cervical cancer									True																				owl:Class
MONDO:0021570	biolink:NamedThing	obsolete Hauptmann-Thannhauser muscular dystrophy		mondoexuq1wtf		terms merged		MONDO:0021569						True																https://github.com/monarch-initiative/mondo/issues/55				owl:Class
MONDO:0001677	biolink:NamedThing	obsolete Rift valley fever		mondoexuq1wtf				MONDO:0017880						True																				owl:Class
MONDO:0000445	biolink:NamedThing	obsolete neuroacanthocytosis		mondoexuq1wtf				MONDO:0016987						True																				owl:Class
MONDO:0005735	biolink:NamedThing	obsolete dracunculiasis		mondoexuq1wtf				MONDO:0016472						True																				owl:Class
MONDO:0000622	biolink:NamedThing	obsolete cell type benign neoplasm		mondoexuq1wtf				MONDO:0005165						True																				owl:Class
MONDO:0014988	biolink:NamedThing	obsolete 3-methylglutaconic aciduria, type VIII		mondoexuq1wtf				MONDO:0044723		Duplicate				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0002161	biolink:NamedThing	obsolete fallopian tube carcinosarcoma		mondoexuq1wtf				MONDO:0006207						True																				owl:Class
MONDO:0003048	biolink:NamedThing	obsolete type C thymoma		mondoexuq1wtf				MONDO:0006451						True																				owl:Class
MONDO:0003797	biolink:NamedThing	obsolete inflammatory MFH		mondoexuq1wtf				MONDO:0006480						True																				owl:Class
MONDO:0017889	biolink:NamedThing	obsolete mucinous tubular and spindle cell renal carcinoma		mondoexuq1wtf				MONDO:0003011						True																				owl:Class
MONDO:0006991	biolink:NamedThing	obsolete sympathetic ophthalmia		mondoexuq1wtf				MONDO:0019198						True																				owl:Class
MONDO:0000007	biolink:NamedThing	obsolete atypical Mycobacteriosis, familial		mondoexuq1wtf						OMIM 209950 lists 300636 and 300645 as other types of this disease.				True		DC:0000046																		owl:Class
MONDO:0001908	biolink:NamedThing	obsolete hypophosphatasia		mondoexuq1wtf				MONDO:0018570						True																				owl:Class
MONDO:0006691	biolink:NamedThing	obsolete causalgia		mondoexuq1wtf				MONDO:0020572						True																				owl:Class
MONDO:0010272	biolink:NamedThing	obsolete syndromic X-linked intellectual disability type 10		mondoexuq1wtf				MONDO:0010327		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1690				owl:Class
MONDO:0002835	biolink:NamedThing	obsolete papillary transitional carcinoma		mondoexuq1wtf				MONDO:0006350						True																				owl:Class
MONDO:0000366	biolink:NamedThing	obsolete glycogen storage disease IX		mondoexuq1wtf				MONDO:0018251						True																				owl:Class
MONDO:0006441	biolink:NamedThing	obsolete T-cell prolymphocytic leukemia		mondoexuq1wtf				MONDO:0019468						True																				owl:Class
MONDO:0003239	biolink:NamedThing	obsolete Camurati-Engelmann disease		mondoexuq1wtf				MONDO:0007542						True																				owl:Class
MONDO:0004388	biolink:NamedThing	obsolete testicular spermatocytic seminoma		mondoexuq1wtf				MONDO:0020513						True																				owl:Class
MONDO:0002841	biolink:NamedThing	obsolete eosinophilic gastroenteritis		mondoexuq1wtf				MONDO:0016129						True																				owl:Class
MONDO:0000109	biolink:NamedThing	obsolete basal ganglia calcification, idiopathic		mondoexuq1wtf				MONDO:0000720						True		DC:0000478																		owl:Class
MONDO:0018415	biolink:NamedThing	obsolete hymenolepiasis		mondoexuq1wtf				MONDO:0005802						True																				owl:Class
MONDO:0004870	biolink:NamedThing	obsolete diabetic neuropathy		mondoexuq1wtf				MONDO:0006626						True																				owl:Class
MONDO:0005726	biolink:NamedThing	obsolete cysticercosis		mondoexuq1wtf				MONDO:0015484						True																				owl:Class
MONDO:0000246	biolink:NamedThing	obsolete la Crosse encephalitis		mondoexuq1wtf				MONDO:0019378						True																				owl:Class
MONDO:0003711	biolink:NamedThing	obsolete malignant peripheral nerve sheath tumor		mondoexuq1wtf				MONDO:0017827						True																				owl:Class
MONDO:0000187	biolink:NamedThing	obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome		mondoexuq1wtf				MONDO:0010004						True																				owl:Class
MONDO:0003160	biolink:NamedThing	obsolete sebaceous carcinoma	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	mondoexuq1wtf				MONDO:0006962						True																				owl:Class
MONDO:0001102	biolink:NamedThing	obsolete chronic endophthalmitis		mondoexuq1wtf				MONDO:0017203						True																				owl:Class
MONDO:0018584	biolink:NamedThing	obsolete placental insufficiency		mondoexuq1wtf				MONDO:0005919						True																				owl:Class
MONDO:0010345	biolink:NamedThing	obsolete ocular albinism		mondoexuq1wtf				MONDO:0017304						True																				owl:Class
MONDO:0006443	biolink:NamedThing	obsolete tenosynovial giant cell tumor		mondoexuq1wtf				MONDO:0002522						True																				owl:Class
MONDO:0001026	biolink:NamedThing	obsolete bacterial infectious disease	A infectious disease involving the Bacteria.	mondoexuq1wtf	Bacteria infection|infections, Bacteria			MONDO:0005113						True																				owl:Class
MONDO:0006296	biolink:NamedThing	obsolete mast cell sarcoma		mondoexuq1wtf				MONDO:0019024						True																				owl:Class
MONDO:0001865	biolink:NamedThing	obsolete autoimmune polyendocrinopathy syndrome		mondoexuq1wtf				MONDO:0017278						True																				owl:Class
MONDO:0021150	biolink:NamedThing	obsolete genetic characteristic		mondoexuq1wtf				MONDO:0021152						True																				owl:Class
MONDO:0003833	biolink:NamedThing	obsolete severe combined immunodeficiency		mondoexuq1wtf	obsolete severe combined immunodeficiency (disease)		obsolete severe combined immunodeficiency (disease)	MONDO:0015974						True																				owl:Class
MONDO:0019090	biolink:NamedThing	obsolete meconium aspiration syndrome		mondoexuq1wtf				MONDO:0006851						True																				owl:Class
MONDO:0019598	biolink:NamedThing	obsolete fragile X syndrome		mondoexuq1wtf				MONDO:0010383						True																				owl:Class
MONDO:0016324	biolink:NamedThing	obsolete hypertrophic cardiomyopathy		mondoexuq1wtf				MONDO:0005045						True																				owl:Class
MONDO:0000186	biolink:NamedThing	obsolete spondyloepimetaphyseal dysplasia with joint laxity		mondoexuq1wtf				MONDO:0019675						True																				owl:Class
MONDO:0019974	biolink:NamedThing	obsolete postencephalitic parkinsonism		mondoexuq1wtf				MONDO:0001945						True																				owl:Class
MONDO:0000135	biolink:NamedThing	obsolete Kenny-Caffey syndrome		mondoexuq1wtf				MONDO:0016516						True																				owl:Class
MONDO:0013596	biolink:NamedThing	obsolete nonsyndromic congenital nail disorder 10		mondoexuq1wtf				MONDO:0008060						True																https://github.com/monarch-initiative/mondo/issues/1394				owl:Class
MONDO:0005458	biolink:NamedThing	obsolete q fever		mondoexuq1wtf				MONDO:0019186						True																				owl:Class
MONDO:0007928	biolink:NamedThing	obsolete Fechtner syndrome		mondoexuq1wtf				MONDO:0007954						True																				owl:Class
MONDO:0019106	biolink:NamedThing	obsolete disseminated peritoneal leiomyomatosis		mondoexuq1wtf				MONDO:0006183						True																				owl:Class
MONDO:0002743	biolink:NamedThing	obsolete prostate colloid adenocarcinoma		mondoexuq1wtf				MONDO:0006067						True																				owl:Class
MONDO:0002210	biolink:NamedThing	obsolete vulva squamous cell carcinoma		mondoexuq1wtf	mammalian vulva squamous cell carcinoma			MONDO:0024609						True																				owl:Class
MONDO:0003920	biolink:NamedThing	obsolete gastric small cell carcinoma		mondoexuq1wtf	stomach small cell carcinoma			MONDO:0006229						True																				owl:Class
MONDO:0021247	biolink:NamedThing	obsolete renal pelvis neoplasm		mondoexuq1wtf										True																				owl:Class
MONDO:0003577	biolink:NamedThing	obsolete cribriform carcinoma		mondoexuq1wtf				MONDO:0006176						True																				owl:Class
MONDO:0004704	biolink:NamedThing	obsolete peroxisomal disease		mondoexuq1wtf				MONDO:0019053						True																				owl:Class
MONDO:0006473	biolink:NamedThing	obsolete tracheal squamous cell carcinoma		mondoexuq1wtf				MONDO:0001419						True																				owl:Class
MONDO:0000329	biolink:NamedThing	obsolete epidemic typhus		mondoexuq1wtf				MONDO:0019362						True																				owl:Class
MONDO:0005225	biolink:NamedThing	obsolete acute myeloblastic leukemia with maturation		mondoexuq1wtf				MONDO:0020320						True																				owl:Class
MONDO:0005270	biolink:NamedThing	obsolete motor neuron disease		mondoexuq1wtf				MONDO:0020128						True																				owl:Class
MONDO:0002126	biolink:NamedThing	obsolete childhood absence epilepsy		mondoexuq1wtf				MONDO:0010826						True																				owl:Class
MONDO:0006538	biolink:NamedThing	obsolete dermatitis herpetiformis		mondoexuq1wtf				MONDO:0015614						True																				owl:Class
MONDO:0005553	biolink:NamedThing	obsolete parathyroid disease		mondoexuq1wtf				MONDO:0001223						True																				owl:Class
MONDO:0004072	biolink:NamedThing	obsolete protoplasmic astrocytoma		mondoexuq1wtf				MONDO:0016687						True																				owl:Class
MONDO:0003484	biolink:NamedThing	obsolete penis squamous cell carcinoma		mondoexuq1wtf				MONDO:0018352						True																				owl:Class
MONDO:0000613	biolink:NamedThing	obsolete estrogen-receptor positive breast cancer		mondoexuq1wtf				MONDO:0006512						True																				owl:Class
MONDO:0012372	biolink:NamedThing	obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features		mondoexuq1wtf				MONDO:0007617						True																				owl:Class
MONDO:0003914	biolink:NamedThing	obsolete inborn purine-pyrimidine metabolic disorder		mondoexuq1wtf				MONDO:0019254						True																				owl:Class
MONDO:0006129	biolink:NamedThing	obsolete central nervous system lymphoma		mondoexuq1wtf				MONDO:0002571						True																				owl:Class
MONDO:0018909	biolink:NamedThing	obsolete legionellosis		mondoexuq1wtf				MONDO:0005823						True																				owl:Class
MONDO:0015693	biolink:NamedThing	obsolete composite lymphoma		mondoexuq1wtf				MONDO:0005710						True																				owl:Class
MONDO:0020719	biolink:NamedThing	obsolete susceptibility to Hirschsprung disease		mondoexuq1wtf	HSCR			MONDO:0018309						True																				owl:Class
MONDO:0000046	biolink:NamedThing	obsolete hypouricemia, renal		mondoexuq1wtf						See text of OMIM 220150, does not include 307830.				True		DC:0000219																		owl:Class
MONDO:0000999	biolink:NamedThing	obsolete pneumoconiosis		mondoexuq1wtf				MONDO:0015926						True																				owl:Class
MONDO:0019021	biolink:NamedThing	obsolete pigmented villonodular synovitis		mondoexuq1wtf				MONDO:0006906						True																				owl:Class
MONDO:0011666	biolink:NamedThing	obsolete maturity-onset diabetes of the young		mondoexuq1wtf				MONDO:0018911						True																				owl:Class
MONDO:0000165	biolink:NamedThing	obsolete ectodermal dysplasia-syndactyly syndrome		mondoexuq1wtf				MONDO:0013311						True																				owl:Class
MONDO:0002818	biolink:NamedThing	obsolete adrenal cortical adenocarcinoma		mondoexuq1wtf				MONDO:0006639						True																				owl:Class
MONDO:0000504	biolink:NamedThing	obsolete follicular lymphoma		mondoexuq1wtf				MONDO:0018906						True																				owl:Class
MONDO:0000287	biolink:NamedThing	obsolete Lambert-Eaton myasthenic syndrome		mondoexuq1wtf				MONDO:0018556						True																				owl:Class
MONDO:0017374	biolink:NamedThing	obsolete polydactyly		mondoexuq1wtf				MONDO:0011348						True																				owl:Class
MONDO:0000120	biolink:NamedThing	obsolete ectopia lentis, isolated		mondoexuq1wtf				MONDO:0015998						True																				owl:Class
MONDO:0005702	biolink:NamedThing	obsolete chromoblastomycosis	A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.	mondoexuq1wtf				MONDO:0015908						True																				owl:Class
MONDO:0000003	biolink:NamedThing	obsolete 17-hydroxysteroid dehydrogenase deficiency		mondoexuq1wtf										True		DC:0000002																		owl:Class
MONDO:0000581	biolink:NamedThing	obsolete lambda 5 deficiency		mondoexuq1wtf				MONDO:0013287		This was considered a duplicate.				True																https://github.com/monarch-initiative/mondo/issues/383				owl:Class
MONDO:0006020	biolink:NamedThing	obsolete Zollinger-Ellison syndrome		mondoexuq1wtf	obsolete Zollinger-Ellison syndrome (disease)		obsolete Zollinger-Ellison syndrome (disease)	MONDO:0019610						True																				owl:Class
MONDO:0001058	biolink:NamedThing	obsolete gastric fundus cancer		mondoexuq1wtf				MONDO:0004950						True																				owl:Class
MONDO:0003183	biolink:NamedThing	obsolete trachea adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006471						True																				owl:Class
MONDO:0015155	biolink:NamedThing	obsolete spotted fever rickettsiosis		mondoexuq1wtf				MONDO:0001195						True																				owl:Class
MONDO:0002445	biolink:NamedThing	obsolete hemoglobin c disease		mondoexuq1wtf				MONDO:0016242						True																				owl:Class
MONDO:0000132	biolink:NamedThing	obsolete hypocalcemia		mondoexuq1wtf	obsolete hypocalcemia (disease)		obsolete hypocalcemia (disease)							True		DC:0000541																		owl:Class
MONDO:0018785	biolink:NamedThing	obsolete nodular fasciitis	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	mondoexuq1wtf				MONDO:0004187						True																				owl:Class
MONDO:0000112	biolink:NamedThing	obsolete cardioencephalomyopathy, fatal infantile		mondoexuq1wtf				MONDO:0015487						True																				owl:Class
MONDO:0017358	biolink:NamedThing	obsolete organic aciduria		mondoexuq1wtf				MONDO:0000688						True																				owl:Class
MONDO:0002389	biolink:NamedThing	obsolete adenofibroma		mondoexuq1wtf				MONDO:0006071						True																				owl:Class
MONDO:0005431	biolink:NamedThing	obsolete toxic epidermal necrolysis		mondoexuq1wtf				MONDO:0019810						True																				owl:Class
MONDO:0016279	biolink:NamedThing	obsolete adenosarcoma of the cervix uteri	Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.	mondoexuq1wtf	uterine cervix adenosarcoma			MONDO:0002876						True																				owl:Class
MONDO:0018482	biolink:NamedThing	obsolete squamous cell carcinoma of stomach		mondoexuq1wtf				MONDO:0006230						True																				owl:Class
MONDO:0010445	biolink:NamedThing	obsolete McLeod syndrome		mondoexuq1wtf				MONDO:0018945						True																				owl:Class
MONDO:0008987	biolink:NamedThing	obsolete cirrhosis, familial		mondoexuq1wtf				MONDO:0007329						True																				owl:Class
MONDO:0000012	biolink:NamedThing	obsolete choreoathetosis		mondoexuq1wtf	obsolete choreoathetosis (disease)		obsolete choreoathetosis (disease)							True		DC:0000083																		owl:Class
MONDO:0002344	biolink:NamedThing	obsolete corneal dystrophy		mondoexuq1wtf				MONDO:0018102						True																				owl:Class
MONDO:0002873	biolink:NamedThing	obsolete testicular germ cell tumor non-seminomatous		mondoexuq1wtf				MONDO:0006447						True																				owl:Class
MONDO:0018641	biolink:NamedThing	obsolete paroxysmal nocturnal hemoglobinuria		mondoexuq1wtf				MONDO:0100245		Split this term to create a grouping class with acquired and inherited forms as children.				True																				owl:Class
MONDO:0003415	biolink:NamedThing	obsolete hemoglobin d disease		mondoexuq1wtf				MONDO:0019537						True																				owl:Class
MONDO:0005897	biolink:NamedThing	obsolete paratyphoid fever		mondoexuq1wtf				MONDO:0018626						True																				owl:Class
MONDO:0005423	biolink:NamedThing	obsolete pelvic organ prolapse		mondoexuq1wtf				MONDO:0000082						True																				owl:Class
MONDO:0004073	biolink:NamedThing	obsolete dentin dysplasia		mondoexuq1wtf				MONDO:0015613						True																				owl:Class
MONDO:0013647	biolink:NamedThing	obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome		mondoexuq1wtf				MONDO:0031481						True																https://github.com/monarch-initiative/mondo/issues/2940				owl:Class
MONDO:0004999	biolink:NamedThing	obsolete chondrosarcoma		mondoexuq1wtf				MONDO:0008977						True																				owl:Class
MONDO:0002417	biolink:NamedThing	obsolete ethmoid sinus adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006201						True																				owl:Class
MONDO:0000324	biolink:NamedThing	obsolete familial partial lipodystrophy		mondoexuq1wtf				MONDO:0020088						True																				owl:Class
MONDO:0004807	biolink:NamedThing	obsolete Loeffler syndrome		mondoexuq1wtf				MONDO:0019122						True																				owl:Class
MONDO:0003338	biolink:NamedThing	obsolete von Economo disease		mondoexuq1wtf	obsolete von Economo's disease			MONDO:0019384						True																				owl:Class
MONDO:0000635	biolink:NamedThing	obsolete osteoblastoma		mondoexuq1wtf				MONDO:0018936						True																				owl:Class
MONDO:0000578	biolink:NamedThing	obsolete CD3gamma deficiency		mondoexuq1wtf				MONDO:0014276						True																				owl:Class
MONDO:0001840	biolink:NamedThing	obsolete schistosomiasis		mondoexuq1wtf				MONDO:0015254						True																				owl:Class
MONDO:0006205	biolink:NamedThing	obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor		mondoexuq1wtf				MONDO:0021039						True																				owl:Class
MONDO:0033981	biolink:NamedThing	obsolete krt1-related diffuse nonepidermolytic keratoderma		mondoexuq1wtf				MONDO:0010962						True																				owl:Class
MONDO:0003416	biolink:NamedThing	obsolete hemoglobin E disease		mondoexuq1wtf				MONDO:0016243						True																				owl:Class
MONDO:0004123	biolink:NamedThing	obsolete laryngeal small cell carcinoma		mondoexuq1wtf				MONDO:0006265						True																				owl:Class
MONDO:0019221	biolink:NamedThing	obsolete creatine deficiency syndrome		mondoexuq1wtf				MONDO:0000456						True																				owl:Class
MONDO:0005727	biolink:NamedThing	obsolete cystoisosporiasis		mondoexuq1wtf				MONDO:0018769						True																				owl:Class
MONDO:0003259	biolink:NamedThing	obsolete melioidosis		mondoexuq1wtf				MONDO:0017775						True																				owl:Class
MONDO:0008805	biolink:NamedThing	obsolete Takayasu's arteritis		mondoexuq1wtf				MONDO:0017991						True																				owl:Class
IAO:0100001	biolink:NamedThing	term replaced by		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000752	biolink:NamedThing	obsolete myelomeningocele		mondoexuq1wtf				MONDO:0019773						True																				owl:Class
MONDO:0004610	biolink:NamedThing	obsolete multiple carboxylase deficiency		mondoexuq1wtf				MONDO:0015454						True																				owl:Class
MONDO:0000406	biolink:NamedThing	obsolete Brown-Vialetto-van Laere syndrome		mondoexuq1wtf				MONDO:0008891						True																https://github.com/monarch-initiative/mondo/issues/127				owl:Class
MONDO:0003375	biolink:NamedThing	obsolete uterus leiomyosarcoma		mondoexuq1wtf	uterus leiomyosarcoma|leiomyosarcoma of corpus uteri			MONDO:0016262						True																				owl:Class
MONDO:0014655	biolink:NamedThing	obsolete Bethlem myopathy 2		mondoexuq1wtf				MONDO:0034022		duplicate				True																https://github.com/monarch-initiative/mondo/issues/2461				owl:Class
MONDO:0000737	biolink:NamedThing	obsolete megalocornea		mondoexuq1wtf				MONDO:0009576						True																				owl:Class
MONDO:0001124	biolink:NamedThing	obsolete filariasis		mondoexuq1wtf				MONDO:0016075						True																				owl:Class
MONDO:0002819	biolink:NamedThing	obsolete Loeffler endocarditis		mondoexuq1wtf				MONDO:0019159						True																				owl:Class
MONDO:0006511	biolink:NamedThing	obsolete developmental dysplasia of the hip		mondoexuq1wtf				MONDO:0000158						True																				owl:Class
MONDO:0000142	biolink:NamedThing	obsolete multiple congenital anomalies-hypotonia-seizures syndrome		mondoexuq1wtf				MONDO:0019042						True		DC:0000565																		owl:Class
MONDO:0004480	biolink:NamedThing	obsolete pancreatic invasive intraductal papillary-mucinous carcinoma		mondoexuq1wtf				MONDO:0004481						True																				owl:Class
MONDO:0003385	biolink:NamedThing	obsolete cervical clear cell adenocarcinoma		mondoexuq1wtf				MONDO:0006135						True																				owl:Class
MONDO:0018622	biolink:NamedThing	obsolete nut midline carcinoma		mondoexuq1wtf				MONDO:0005563						True																				owl:Class
MONDO:0000353	biolink:NamedThing	obsolete Saldino-Noonan syndrome		mondoexuq1wtf				MONDO:0019663						True																				owl:Class
MONDO:0019089	biolink:NamedThing	obsolete adult acute respiratory distress syndrome		mondoexuq1wtf				MONDO:0006502						True																				owl:Class
MONDO:0018522	biolink:NamedThing	obsolete acinar cell carcinoma of pancreas		mondoexuq1wtf				MONDO:0006346						True																				owl:Class
MONDO:0018366	biolink:NamedThing	obsolete mucinous adenocarcinoma of ovary		mondoexuq1wtf				MONDO:0005601						True																				owl:Class
MONDO:0006080	biolink:NamedThing	obsolete ampulla of vater carcinoma		mondoexuq1wtf				MONDO:0017590						True																				owl:Class
MONDO:0002890	biolink:NamedThing	obsolete gastrointestinal adenoma		mondoexuq1wtf				MONDO:0006180						True																				owl:Class
MONDO:0003228	biolink:NamedThing	obsolete myelodysplastic/myeloproliferative neoplasm		mondoexuq1wtf				MONDO:0006311						True																				owl:Class
MONDO:0010593	biolink:NamedThing	obsolete Frontometaphyseal dysplasia		mondoexuq1wtf				MONDO:0015942						True																				owl:Class
MONDO:0003167	biolink:NamedThing	obsolete pleomorphic xanthoastrocytoma		mondoexuq1wtf				MONDO:0016690						True																				owl:Class
MONDO:0001070	biolink:NamedThing	obsolete adrenoleukodystrophy		mondoexuq1wtf				MONDO:0018544						True																				owl:Class
MONDO:0000714	biolink:NamedThing	obsolete crest syndrome		mondoexuq1wtf				MONDO:0019563						True																				owl:Class
MONDO:0005732	biolink:NamedThing	obsolete diphyllobothriasis		mondoexuq1wtf				MONDO:0015260						True																				owl:Class
MONDO:0000617	biolink:NamedThing	obsolete Her2-receptor positive breast cancer		mondoexuq1wtf				MONDO:0006244						True																				owl:Class
MONDO:0002593	biolink:NamedThing	obsolete thymic carcinoma		mondoexuq1wtf				MONDO:0020515						True																				owl:Class
MONDO:0000131	biolink:NamedThing	obsolete hyperpigmentation, familial progressive		mondoexuq1wtf										True																				owl:Class
MONDO:0006440	biolink:NamedThing	obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease		mondoexuq1wtf				MONDO:0020332		This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016).				True																https://github.com/monarch-initiative/mondo/issues/1270				owl:Class
MONDO:0018862	biolink:NamedThing	obsolete cat-scratch disease		mondoexuq1wtf				MONDO:0005692						True																				owl:Class
MONDO:0000267	biolink:NamedThing	obsolete cryptogenic organizing pneumonia		mondoexuq1wtf				MONDO:0015264						True																				owl:Class
MONDO:0002208	biolink:NamedThing	obsolete vulva adenocarcinoma		mondoexuq1wtf				MONDO:0024336						True																				owl:Class
MONDO:0011495	biolink:NamedThing	obsolete Langerhans-cell histiocytosis		mondoexuq1wtf				MONDO:0018310						True																				owl:Class
MONDO:0044630	biolink:NamedThing	obsolete rere-related neurodevelopmental syndrome		mondoexuq1wtf				MONDO:0014857						True																				owl:Class
MONDO:0000146	biolink:NamedThing	obsolete progeroid syndrome		mondoexuq1wtf				MONDO:0015333						True																				owl:Class
MONDO:0002151	biolink:NamedThing	obsolete dysostosis		mondoexuq1wtf				MONDO:0018234						True																				owl:Class
MONDO:0020564	biolink:NamedThing	obsolete well-differentiated liposarcoma		mondoexuq1wtf				MONDO:0005103						True																				owl:Class
MONDO:0003527	biolink:NamedThing	obsolete Ferguson-Smith tumor	A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.	mondoexuq1wtf				MONDO:0007566						True																				owl:Class
MONDO:0018704	biolink:NamedThing	obsolete actinomycosis		mondoexuq1wtf				MONDO:0005631						True																				owl:Class
MONDO:0021051	biolink:NamedThing	obsolete hemophagocytic syndrome		mondoexuq1wtf				MONDO:0015540						True																				owl:Class
MONDO:0007255	biolink:NamedThing	obsolete colorectal cancer		mondoexuq1wtf				MONDO:0005575						True																				owl:Class
MONDO:0005226	biolink:NamedThing	obsolete acute basophilic leukemia		mondoexuq1wtf				MONDO:0019458						True																				owl:Class
OIO:consider	biolink:NamedThing	consider		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000096	biolink:NamedThing	obsolete pulmonary surfactant metabolism dysfunction		mondoexuq1wtf	SMDP			MONDO:0012580		OMIM series 265120.				True		DC:0000426																		owl:Class
MONDO:0007394	biolink:NamedThing	obsolete craniodiaphyseal dysplasia		mondoexuq1wtf				MONDO:0009031						True																				owl:Class
MONDO:0007563	biolink:NamedThing	obsolete epistaxis, hereditary		mondoexuq1wtf										True																				owl:Class
MONDO:0015373	biolink:NamedThing	obsolete Saldino-Mainzer syndrome		mondoexuq1wtf				MONDO:0009964						True																https://github.com/monarch-initiative/mondo/issues/1624				owl:Class
MONDO:0004228	biolink:NamedThing	obsolete hypogonadotropism		mondoexuq1wtf				MONDO:0018555						True																				owl:Class
MONDO:0006263	biolink:NamedThing	obsolete Langerhans cell histiocytosis		mondoexuq1wtf				MONDO:0018310						True																				owl:Class
MONDO:0100140	biolink:NamedThing	obsolete mild COVID-19 infection	A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging.	mondoexuq1wtf		Not a disease					MONDO:0100096	http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/issues/2896				owl:Class
MONDO:0018074	biolink:NamedThing	obsolete American trypanosomiasis		mondoexuq1wtf				MONDO:0001444						True																				owl:Class
MONDO:0000326	biolink:NamedThing	obsolete lissencephaly		mondoexuq1wtf				MONDO:0018838						True																				owl:Class
MONDO:0000475	biolink:NamedThing	obsolete pyrimidine metabolic disorder		mondoexuq1wtf				MONDO:0019238						True																				owl:Class
MONDO:0000753	biolink:NamedThing	obsolete omphalocele		mondoexuq1wtf				MONDO:0019015						True																				owl:Class
MONDO:0006697	biolink:NamedThing	obsolete Chlamydophila infectious disease		mondoexuq1wtf				MONDO:0021697						True																				owl:Class
MONDO:0001333	biolink:NamedThing	obsolete Patau syndrome		mondoexuq1wtf				MONDO:0018068						True																				owl:Class
OIO:source	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0005703	biolink:NamedThing	obsolete Churg-Strauss syndrome		mondoexuq1wtf				MONDO:0015943						True																				owl:Class
MONDO:0006334	biolink:NamedThing	obsolete ovarian embryonal carcinoma		mondoexuq1wtf				MONDO:0003581						True																				owl:Class
MONDO:0000177	biolink:NamedThing	obsolete laryngeal abductor paralysis		mondoexuq1wtf										True																				owl:Class
MONDO:0005795	biolink:NamedThing	obsolete histoplasmosis		mondoexuq1wtf				MONDO:0018312						True																				owl:Class
MONDO:0000658	biolink:NamedThing	obsolete mu chain disease		mondoexuq1wtf				MONDO:0015044						True																				owl:Class
MONDO:0008539	biolink:NamedThing	obsolete distal arthrogryposis type 10		mondoexuq1wtf				MONDO:0016675						True																				owl:Class
MONDO:0004070	biolink:NamedThing	obsolete gemistocytic astrocytoma		mondoexuq1wtf				MONDO:0016689						True																				owl:Class
MONDO:0003436	biolink:NamedThing	obsolete lung oat cell carcinoma		mondoexuq1wtf				MONDO:0008433		Duplicate				True																https://github.com/monarch-initiative/mondo/issues/1579				owl:Class
MONDO:0000189	biolink:NamedThing	obsolete Schindler disease		mondoexuq1wtf										True																				owl:Class
MONDO:0006985	biolink:NamedThing	obsolete subependymoma		mondoexuq1wtf				MONDO:0007667						True																				owl:Class
MONDO:0002566	biolink:NamedThing	obsolete complex regional pain syndrome		mondoexuq1wtf				MONDO:0019369						True																				owl:Class
MONDO:0007929	biolink:NamedThing	obsolete Epstein syndrome		mondoexuq1wtf				MONDO:0007954						True																https://github.com/monarch-initiative/mondo/issues/396				owl:Class
MONDO:0024404	biolink:NamedThing	obsolete meningitis caused by anaerobic bacteria		mondoexuq1wtf				MONDO:0002000						True																				owl:Class
MONDO:0000002	biolink:NamedThing	obsolete 46,XX sex reversal		mondoexuq1wtf				MONDO:0009299						True																				owl:Class
MONDO:0000102	biolink:NamedThing	obsolete vertigo		mondoexuq1wtf										True																				owl:Class
MONDO:0017821	biolink:NamedThing	obsolete functioning pituitary adenoma		mondoexuq1wtf				MONDO:0003429						True																				owl:Class
MONDO:0000220	biolink:NamedThing	obsolete anterior segment dysgenesis		mondoexuq1wtf				MONDO:0019503						True																				owl:Class
MONDO:0000154	biolink:NamedThing	obsolete Trichohepatoenteric syndrome		mondoexuq1wtf										True																				owl:Class
MONDO:0000416	biolink:NamedThing	obsolete variable age at onset electroclinical syndrome		mondoexuq1wtf				MONDO:0100036						True																				owl:Class
MONDO:0006448	biolink:NamedThing	obsolete testicular teratoma (disease)		mondoexuq1wtf		terms merged		MONDO:0018193						True																https://github.com/monarch-initiative/mondo/issues/3286				owl:Class
MONDO:0012201	biolink:NamedThing	obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum		mondoexuq1wtf				MONDO:0011806		OMIM merged these.				True																https://github.com/monarch-initiative/mondo/issues/1702				owl:Class
MONDO:0000323	biolink:NamedThing	obsolete familial adenomatous polyposis		mondoexuq1wtf				MONDO:0008279						True																				owl:Class
MONDO:0005331	biolink:NamedThing	obsolete acrocephalosyndactylia		mondoexuq1wtf				MONDO:0019796						True																				owl:Class
MONDO:0005038	biolink:NamedThing	obsolete genetic disorder		mondoexuq1wtf				MONDO:0003847						True																				owl:Class
MONDO:0001696	biolink:NamedThing	obsolete Ehlers-Danlos syndrome		mondoexuq1wtf				MONDO:0020066						True																				owl:Class
NCBITaxon:1654	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002080	biolink:NamedThing	obsolete congenital ichthyosiform erythroderma		mondoexuq1wtf	obsolete congenital ichthyosiform erythroderma (disease)		obsolete congenital ichthyosiform erythroderma (disease)	MONDO:0019306						True																				owl:Class
MONDO:0002611	biolink:NamedThing	obsolete benign epilepsy with centrotemporal spikes		mondoexuq1wtf				MONDO:0007295						True																				owl:Class
MONDO:0020239	biolink:NamedThing	obsolete color-vision disease		mondoexuq1wtf				MONDO:0001703						True																				owl:Class
MONDO:0005951	biolink:NamedThing	obsolete sarcocystosis		mondoexuq1wtf				MONDO:0018903						True																				owl:Class
MONDO:0017960	biolink:NamedThing	obsolete CANDLE syndrome		mondoexuq1wtf				MONDO:0009726						True																https://github.com/monarch-initiative/mondo/issues/1271				owl:Class
MONDO:0021044	biolink:NamedThing	obsolete Wilms tumor	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	mondoexuq1wtf				MONDO:0006058						True																				owl:Class
MONDO:0003838	biolink:NamedThing	obsolete malignant ACTH producing neoplasm of pituitary gland		mondoexuq1wtf				MONDO:0006069						True																				owl:Class
MONDO:0015202	biolink:NamedThing	obsolete babesiosis		mondoexuq1wtf				MONDO:0005661						True																				owl:Class
MONDO:0001359	biolink:NamedThing	obsolete Kohler disease		mondoexuq1wtf				MONDO:0016086						True																				owl:Class
MONDO:0018863	biolink:NamedThing	obsolete leptospirosis		mondoexuq1wtf				MONDO:0005825						True																				owl:Class
MONDO:0003146	biolink:NamedThing	obsolete ependymoblastoma		mondoexuq1wtf				MONDO:0016715						True																				owl:Class
MONDO:0033939	biolink:NamedThing	obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome		mondoexuq1wtf				MONDO:0060564		duplicate				True																https://github.com/monarch-initiative/mondo/issues/2461				owl:Class
MONDO:0022676	biolink:NamedThing	obsolete cataract - glaucoma		mondoexuq1wtf		terms merged		MONDO:0015567						True																https://github.com/monarch-initiative/mondo/issues/2789				owl:Class
MONDO:0006902	biolink:NamedThing	obsolete periventricular leukomalacia		mondoexuq1wtf				MONDO:0015742						True																				owl:Class
MONDO:0003580	biolink:NamedThing	obsolete embryonal testis carcinoma		mondoexuq1wtf				MONDO:0006446						True																				owl:Class
MONDO:0014463	biolink:NamedThing	obsolete microcephaly, short stature, and impaired glucose metabolism		mondoexuq1wtf				MONDO:0000208						True																				owl:Class
MONDO:0016849	biolink:NamedThing	obsolete Nakajo-Nishimura syndrome		mondoexuq1wtf				MONDO:0009726						True																https://github.com/monarch-initiative/mondo/issues/1271				owl:Class
MONDO:0002111	biolink:NamedThing	obsolete peritoneal mesothelioma		mondoexuq1wtf				MONDO:0006362						True																				owl:Class
MONDO:0003456	biolink:NamedThing	obsolete bile duct mucinous cystic neoplasm		mondoexuq1wtf						See Bile Duct Cystadenoma	UMLS:C1334253|NCIT:C37215|DOID:5469			True																				owl:Class
MONDO:0001675	biolink:NamedThing	obsolete porphyria		mondoexuq1wtf				MONDO:0019142						True																				owl:Class
MONDO:0021153	biolink:NamedThing	obsolete genetic and acquired		mondoexuq1wtf	somatic genetic									True																				owl:Class
MONDO:0017293	biolink:NamedThing	obsolete small cell carcinoma of the bladder		mondoexuq1wtf				MONDO:0004114						True																				owl:Class
MONDO:0004362	biolink:NamedThing	obsolete placenta disease		mondoexuq1wtf				MONDO:0005917						True																				owl:Class
MONDO:0003179	biolink:NamedThing	obsolete lacrimal gland adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006262						True																				owl:Class
MONDO:0000275	biolink:NamedThing	obsolete monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).	mondoexuq1wtf							MONDO:0003847			True		DOID:0050177														https://github.com/monarch-initiative/mondo/issues/1758				owl:Class
MONDO:0019163	biolink:NamedThing	obsolete pseudoxanthoma elasticum		mondoexuq1wtf				MONDO:0009925						True																				owl:Class
MONDO:0010372	biolink:NamedThing	obsolete Clark-Baraitser syndrome		mondoexuq1wtf				MONDO:0030914		These were merged in OMIM.				True																https://github.com/monarch-initiative/mondo/issues/2457				owl:Class
MONDO:0000887	biolink:NamedThing	obsolete hepatic veno-occlusive disease		mondoexuq1wtf				MONDO:0019514						True																				owl:Class
MONDO:0003854	biolink:NamedThing	obsolete tibial adamantinoma		mondoexuq1wtf				MONDO:0006469						True																				owl:Class
MONDO:0000838	biolink:NamedThing	obsolete chromosomal disease		mondoexuq1wtf				MONDO:0019040						True																				owl:Class
MONDO:0002349	biolink:NamedThing	obsolete agammaglobulinemia		mondoexuq1wtf				MONDO:0015977						True																				owl:Class
MONDO:0001010	biolink:NamedThing	obsolete natural killer cell leukemia		mondoexuq1wtf				MONDO:0019470						True																				owl:Class
MONDO:0004945	biolink:NamedThing	obsolete hypereosinophilic syndrome		mondoexuq1wtf				MONDO:0015691						True																				owl:Class
MONDO:0005390	biolink:NamedThing	obsolete cardiac arrhythmia		mondoexuq1wtf				MONDO:0007263						True																				owl:Class
MONDO:0000319	biolink:NamedThing	obsolete infant botulism		mondoexuq1wtf				MONDO:0015804						True																				owl:Class
MONDO:0005415	biolink:NamedThing	obsolete acute lung injury		mondoexuq1wtf				MONDO:0015796						True																				owl:Class
MONDO:0002421	biolink:NamedThing	obsolete chorioangioma		mondoexuq1wtf				MONDO:0006375						True																				owl:Class
MONDO:0003016	biolink:NamedThing	obsolete sarcomatoid mesothelioma		mondoexuq1wtf				MONDO:0006407						True																				owl:Class
MONDO:0000048	biolink:NamedThing	obsolete immunoglobulin A deficiency		mondoexuq1wtf				MONDO:0001341						True																				owl:Class
MONDO:0006171	biolink:NamedThing	obsolete conjunctival melanoma		mondoexuq1wtf				MONDO:0002096						True																				owl:Class
MONDO:0016278	biolink:NamedThing	obsolete carcinosarcoma of the cervix uteri	Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.	mondoexuq1wtf	uterine cervix carcinosarcoma			MONDO:0002877						True																				owl:Class
MONDO:0016597	biolink:NamedThing	obsolete generalized pustular psoriasis		mondoexuq1wtf		terms merged		MONDO:0013626						True																https://github.com/monarch-initiative/mondo/issues/2829				owl:Class
MONDO:0005934	biolink:NamedThing	obsolete pyruvate decarboxylase deficiency		mondoexuq1wtf				MONDO:0019169						True																				owl:Class
MONDO:0001348	biolink:NamedThing	obsolete Lyme disease		mondoexuq1wtf				MONDO:0019632						True																				owl:Class
MONDO:0020299	biolink:NamedThing	obsolete spinocerebellar ataxia type 15/16		mondoexuq1wtf				MONDO:0011694						True																				owl:Class
MONDO:0000176	biolink:NamedThing	obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome		mondoexuq1wtf				MONDO:0019375						True																				owl:Class
MONDO:0006370	biolink:NamedThing	obsolete pineoblastoma		mondoexuq1wtf				MONDO:0016722						True																				owl:Class
MONDO:0000247	biolink:NamedThing	obsolete hemophagocytic lymphohistiocytosis	A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	mondoexuq1wtf				MONDO:0015540						True																				owl:Class
MONDO:0014315	biolink:NamedThing	obsolete Mitchell-Riley syndrome		mondoexuq1wtf		terms merged		MONDO:0017400						True																https://github.com/monarch-initiative/mondo/issues/3099				owl:Class
MONDO:0006750	biolink:NamedThing	obsolete Erdheim-Chester disease		mondoexuq1wtf				MONDO:0018153						True																				owl:Class
MONDO:0000069	biolink:NamedThing	obsolete multiple endocrine neoplasia		mondoexuq1wtf				MONDO:0017169						True																				owl:Class
MONDO:0006399	biolink:NamedThing	obsolete rhabdoid tumor of the kidney		mondoexuq1wtf				MONDO:0002729						True																				owl:Class
MONDO:0005450	biolink:NamedThing	obsolete autoimmune disease		mondoexuq1wtf				MONDO:0007179						True																				owl:Class
MONDO:0006914	biolink:NamedThing	obsolete POEMS syndrome		mondoexuq1wtf				MONDO:0017364						True																				owl:Class
MONDO:0005474	biolink:NamedThing	obsolete non-small cell lung adenocarcinoma		mondoexuq1wtf				MONDO:0005061						True																				owl:Class
MONDO:0002315	biolink:NamedThing	obsolete hereditary spastic paraplegia		mondoexuq1wtf				MONDO:0019064						True																				owl:Class
MONDO:0002504	biolink:NamedThing	obsolete grade III astrocytoma		mondoexuq1wtf				MONDO:0016684						True																				owl:Class
MONDO:0020309	biolink:NamedThing	obsolete Landau-Kleffner syndrome		mondoexuq1wtf				MONDO:0009509						True																				owl:Class
MONDO:0001248	biolink:NamedThing	obsolete rabies		mondoexuq1wtf				MONDO:0019173						True																				owl:Class
MONDO:0018012	biolink:NamedThing	obsolete tetanus		mondoexuq1wtf				MONDO:0005526						True																				owl:Class
MONDO:0000505	biolink:NamedThing	obsolete small cell neuroendocrine carcinoma		mondoexuq1wtf				MONDO:0000402						True																				owl:Class
MONDO:0000506	biolink:NamedThing	obsolete Caroli disease		mondoexuq1wtf				MONDO:0010913						True																				owl:Class
MONDO:0004119	biolink:NamedThing	obsolete endometrial small cell carcinoma		mondoexuq1wtf				MONDO:0006197						True																				owl:Class
MONDO:0006114	biolink:NamedThing	obsolete bladder squamous cell carcinoma		mondoexuq1wtf				MONDO:0002760						True																				owl:Class
MONDO:0005022	biolink:NamedThing	obsolete ductal breast adenocarcinoma		mondoexuq1wtf				MONDO:0005590						True																				owl:Class
MONDO:0006148	biolink:NamedThing	obsolete chronic neutrophilic leukemia		mondoexuq1wtf				MONDO:0019451						True																				owl:Class
MONDO:0003605	biolink:NamedThing	obsolete adrenal neuroblastoma	A neuroblastoma arising from the adrenal gland.	mondoexuq1wtf				MONDO:0006076						True																				owl:Class
MONDO:0006542	biolink:NamedThing	obsolete epidermolysis bullosa acquisita	A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes.	mondoexuq1wtf				MONDO:0018747						True																				owl:Class
MONDO:0005455	biolink:NamedThing	obsolete cholangiocarcinoma		mondoexuq1wtf				MONDO:0019087						True																				owl:Class
MONDO:0000767	biolink:NamedThing	obsolete nut midline carcinoma		mondoexuq1wtf				MONDO:0005563						True																				owl:Class
MONDO:0016288	biolink:NamedThing	obsolete glassy cell carcinoma of the cervix uteri		mondoexuq1wtf				MONDO:0004542						True																				owl:Class
MONDO:0019352	biolink:NamedThing	obsolete sporotrichosis		mondoexuq1wtf				MONDO:0005968						True																				owl:Class
MONDO:0000300	biolink:NamedThing	obsolete tungiasis		mondoexuq1wtf				MONDO:0019498						True																				owl:Class
MONDO:0000585	biolink:NamedThing	obsolete Good syndrome		mondoexuq1wtf				MONDO:0015696						True																				owl:Class
MONDO:0020700	biolink:NamedThing	obsolete microcephaly, short stature, and impaired glucose metabolism		mondoexuq1wtf				MONDO:0000208						True																				owl:Class
OBO:mondo#excluded_from_qc_check	biolink:NamedThing	excluded from QC check		mondoexuq1wtf																True														owl:AnnotationProperty
MONDO:0004027	biolink:NamedThing	obsolete embryonal cancer	A germ cell cancer that is associated with an embryo.	mondoexuq1wtf	embryonal neoplasm|embryo neoplasm						MONDO:0005564			True																				owl:Class
MONDO:0001489	biolink:NamedThing	obsolete urticaria pigmentosa		mondoexuq1wtf				MONDO:0019316						True																				owl:Class
MONDO:0017367	biolink:NamedThing	obsolete kindler syndrome		mondoexuq1wtf				MONDO:0008260						True																				owl:Class
MONDO:0007455	biolink:NamedThing	obsolete diabetes mellitus, noninsulin-dependent		mondoexuq1wtf				MONDO:0005148		Duplicate terms.				True																https://github.com/monarch-initiative/mondo/issues/2377				owl:Class
NCBITaxon:620	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002018	biolink:NamedThing	obsolete Leber congenital amaurosis		mondoexuq1wtf				MONDO:0018998						True																				owl:Class
MONDO:0015754	biolink:NamedThing	obsolete cylindrical spirals myopathy		mondoexuq1wtf				MONDO:0008058						True																				owl:Class
MONDO:0000566	biolink:NamedThing	obsolete substance withdrawal disorder		mondoexuq1wtf				MONDO:0005567						True																				owl:Class
MONDO:0001140	biolink:NamedThing	obsolete Edwards syndrome		mondoexuq1wtf				MONDO:0018071						True																				owl:Class
MONDO:0000484	biolink:NamedThing	obsolete oromandibular dystonia		mondoexuq1wtf				MONDO:0019771						True																				owl:Class
MONDO:0004157	biolink:NamedThing	obsolete pancreatic mucinous cystadenoma		mondoexuq1wtf				MONDO:0018523						True																				owl:Class
MONDO:0000619	biolink:NamedThing	obsolete triple-receptor negative breast cancer		mondoexuq1wtf				MONDO:0005494						True																				owl:Class
MONDO:0006508	biolink:NamedThing	obsolete infantile epileptic encephalopathy		mondoexuq1wtf				MONDO:0016021						True																				owl:Class
MONDO:0019850	biolink:NamedThing	obsolete precocious puberty		mondoexuq1wtf				MONDO:0000088						True																				owl:Class
MONDO:0007081	biolink:NamedThing	obsolete allergic bronchopulmonary aspergillosis		mondoexuq1wtf				MONDO:0015243						True																				owl:Class
MONDO:0016590	biolink:NamedThing	obsolete collecting duct carcinoma		mondoexuq1wtf				MONDO:0005220						True																				owl:Class
MONDO:0000423	biolink:NamedThing	obsolete coenzyme Q10 deficiency disease		mondoexuq1wtf				MONDO:0018151						True																				owl:Class
MONDO:0018399	biolink:NamedThing	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism		mondoexuq1wtf				MONDO:0018398						True																https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/414				owl:Class
MONDO:0011324	biolink:NamedThing	obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss		mondoexuq1wtf				MONDO:0008885		OMIM merged these				True																https://github.com/monarch-initiative/mondo/issues/1699				owl:Class
MONDO:0009989	biolink:NamedThing	obsolete enhanced S-cone syndrome		mondoexuq1wtf				MONDO:0100288		Split into two terms.				True																https://github.com/monarch-initiative/mondo/issues/2684				owl:Class
MONDO:0006958	biolink:NamedThing	obsolete SAPHO syndrome		mondoexuq1wtf				MONDO:0019266						True																				owl:Class
MONDO:0024460	biolink:NamedThing	obsolete Herpesviridae infections		mondoexuq1wtf				MONDO:0005794						True																				owl:Class
MONDO:0005840	biolink:NamedThing	obsolete mast-cell leukemia		mondoexuq1wtf				MONDO:0020334						True																				owl:Class
MONDO:0000717	biolink:NamedThing	obsolete acrofrontofacionasal dysostosis		mondoexuq1wtf				MONDO:0008715						True																				owl:Class
MONDO:0100334	biolink:NamedThing	obsolete viral infectious disease or sequela		mondoexuq1wtf		duplicate		MONDO:0100321				http://orcid.org/0000-0001-5208-3432		True																https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054				owl:Class
MONDO:0005637	biolink:NamedThing	obsolete adult-onset Still disease		mondoexuq1wtf	obsolete adult-onset Still's disease			MONDO:0019355						True																				owl:Class
MONDO:0022406	biolink:NamedThing	obsolete aksu von stockhausen syndrome		mondoexuq1wtf				MONDO:0021836						True																				owl:Class
MONDO:0000235	biolink:NamedThing	obsolete Rocky mountain spotted fever		mondoexuq1wtf				MONDO:0019359						True																				owl:Class
MONDO:0000010	biolink:NamedThing	obsolete cerebrooculofacioskeletal syndrome		mondoexuq1wtf				MONDO:0008926						True																				owl:Class
MONDO:0004655	biolink:NamedThing	obsolete acute megakaryoblastic leukemia		mondoexuq1wtf				MONDO:0018872						True																				owl:Class
MONDO:0013347	biolink:NamedThing	obsolete gastric cancer		mondoexuq1wtf				MONDO:0001056						True																				owl:Class
MONDO:0001891	biolink:NamedThing	obsolete malignant anus melanoma		mondoexuq1wtf				MONDO:0006081						True																				owl:Class
MONDO:0018970	biolink:NamedThing	obsolete pemphigoid gestationis		mondoexuq1wtf				MONDO:0006558						True																				owl:Class
MONDO:0000808	biolink:NamedThing	obsolete hepatoid adenocarcinoma		mondoexuq1wtf				MONDO:0006243						True																				owl:Class
dc:creator	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000720	biolink:NamedThing	obsolete basal ganglia calcification		mondoexuq1wtf				MONDO:0008947						True																				owl:Class
MONDO:0002521	biolink:NamedThing	obsolete multiple symmetrical lipomatosis		mondoexuq1wtf				MONDO:0007908						True																				owl:Class
MONDO:0000464	biolink:NamedThing	obsolete Stargardt disease		mondoexuq1wtf				MONDO:0019353						True																				owl:Class
MONDO:0003063	biolink:NamedThing	obsolete hydranencephaly		mondoexuq1wtf				MONDO:0016344						True																				owl:Class
MONDO:0001937	biolink:NamedThing	obsolete LEOPARD syndrome		mondoexuq1wtf				MONDO:0007893						True																				owl:Class
MONDO:0000100	biolink:NamedThing	obsolete trichorhinophalangeal syndrome		mondoexuq1wtf										True																				owl:Class
MONDO:0010470	biolink:NamedThing	obsolete Baratela-Scott syndrome		mondoexuq1wtf		terms merged		MONDO:0014343						True																https://github.com/monarch-initiative/mondo/issues/2961				owl:Class
MONDO:0000318	biolink:NamedThing	obsolete wound botulism		mondoexuq1wtf				MONDO:0015803						True																				owl:Class
MONDO:0000899	biolink:NamedThing	obsolete malignant epithelioid hemangioendothelioma		mondoexuq1wtf				MONDO:0015523						True																				owl:Class
MONDO:0015964	biolink:NamedThing	obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease		mondoexuq1wtf		MONDO:outOfScope				Obsolete in Orphanet	Orphanet:183598|UMLS:CN200563			True																https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662				owl:Class
MONDO:0016741	biolink:NamedThing	obsolete teratoma of the central nervous system		mondoexuq1wtf				MONDO:0002718						True																				owl:Class
MONDO:0018331	biolink:NamedThing	obsolete rare genetic dystonia		mondoexuq1wtf				MONDO:0044807						True																				owl:Class
MONDO:0005877	biolink:NamedThing	obsolete nocardiosis		mondoexuq1wtf				MONDO:0017776						True																				owl:Class
MONDO:0003871	biolink:NamedThing	obsolete metanephric adenoma		mondoexuq1wtf				MONDO:0006301						True																				owl:Class
MONDO:0002157	biolink:NamedThing	obsolete fallopian tube carcinoma		mondoexuq1wtf				MONDO:0006206						True																				owl:Class
MONDO:0021910	biolink:NamedThing	obsolete aplasia cutis myopia		mondoexuq1wtf				MONDO:0010988						True																				owl:Class
MONDO:0014721	biolink:NamedThing	obsolete hereditary spherocytosis type 2		mondoexuq1wtf				MONDO:0000913						True																				owl:Class
MONDO:0008657	biolink:NamedThing	obsolete vibratory angioedema		mondoexuq1wtf				MONDO:0007447		OMIM obsoleted this term and merged it with autosomal dominant vibratory urticaria.				True																https://github.com/monarch-initiative/mondo/issues/1684				owl:Class
MONDO:0002723	biolink:NamedThing	obsolete cutaneous mastocytosis		mondoexuq1wtf	obsolete cutaneous mastocytosis (disease)		obsolete cutaneous mastocytosis (disease)	MONDO:0019023						True																				owl:Class
MONDO:0003156	biolink:NamedThing	obsolete adenosquamous carcinoma		mondoexuq1wtf				MONDO:0006074						True																				owl:Class
MONDO:0018367	biolink:NamedThing	obsolete clear cell adenocarcinoma of ovary		mondoexuq1wtf				MONDO:0006045						True																				owl:Class
MONDO:0016926	biolink:NamedThing	obsolete Geleophysic dysplasia		mondoexuq1wtf				MONDO:0000127						True																				owl:Class
MONDO:0005456	biolink:NamedThing	obsolete avian influenza		mondoexuq1wtf				MONDO:0018695						True																				owl:Class
MONDO:0000851	biolink:NamedThing	obsolete achondrogenesis		mondoexuq1wtf				MONDO:0019648						True																				owl:Class
MONDO:0002932	biolink:NamedThing	obsolete conjunctival disease		mondoexuq1wtf				MONDO:0006170						True																				owl:Class
MONDO:0001796	biolink:NamedThing	obsolete epidermodysplasia verruciformis		mondoexuq1wtf				MONDO:0009176						True																				owl:Class
MONDO:0015989	biolink:NamedThing	obsolete congenital valvular dysplasia		mondoexuq1wtf		terms merged		MONDO:0010753						True																https://github.com/monarch-initiative/mondo/issues/3085				owl:Class
OBO:mondo#pathogenesis	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000072	biolink:NamedThing	obsolete myopathy, reducing body, X-linked		mondoexuq1wtf										True																				owl:Class
MONDO:0000217	biolink:NamedThing	obsolete Frontometaphyseal dysplasia		mondoexuq1wtf				MONDO:0010593						True																				owl:Class
MONDO:0000847	biolink:NamedThing	obsolete pycnodysostosis		mondoexuq1wtf				MONDO:0009940						True																				owl:Class
MONDO:0000016	biolink:NamedThing	obsolete coronary heart disease		mondoexuq1wtf				MONDO:0005010						True																				owl:Class
MONDO:0034122	biolink:NamedThing	obsolete NAD(P)HX epimerase deficiency		mondoexuq1wtf				MONDO:0014960						True																				owl:Class
MONDO:0000932	biolink:NamedThing	obsolete skin amelanotic melanoma		mondoexuq1wtf				MONDO:0005208						True																				owl:Class
MONDO:0007063	biolink:NamedThing	obsolete long bone adamantinoma	A adamantinoma that involves the long bone.	mondoexuq1wtf				MONDO:0002422						True																				owl:Class
MONDO:0006175	biolink:NamedThing	obsolete craniopharyngioma		mondoexuq1wtf				MONDO:0018907						True																				owl:Class
MONDO:0001448	biolink:NamedThing	obsolete alveolar echinococcosis		mondoexuq1wtf				MONDO:0017282						True																				owl:Class
MONDO:0006776	biolink:NamedThing	obsolete hairy cell leukemia		mondoexuq1wtf				MONDO:0018935						True																				owl:Class
MONDO:0017938	biolink:NamedThing	obsolete X-linked cleft palate and ankyloglossia		mondoexuq1wtf				MONDO:0010560		These two terms are duplicates.				True																https://github.com/monarch-initiative/mondo/issues/2015				owl:Class
MONDO:0005427	biolink:NamedThing	obsolete vasuclar dementia		mondoexuq1wtf				MONDO:0004648						True																				owl:Class
MONDO:0004734	biolink:NamedThing	obsolete erythromelalgia		mondoexuq1wtf				MONDO:0016028						True																				owl:Class
MONDO:0003483	biolink:NamedThing	obsolete gastric squamous cell carcinoma		mondoexuq1wtf				MONDO:0006230						True																				owl:Class
MONDO:0014879	biolink:NamedThing	obsolete patent ductus arteriosus 3		mondoexuq1wtf							MONDO:0024266			True																				owl:Class
MONDO:0019400	biolink:NamedThing	obsolete testicular seminomatous germ cell tumor		mondoexuq1wtf				MONDO:0003669						True																				owl:Class
MONDO:0000570	biolink:NamedThing	obsolete severe combined immunodeficiency due to artemis deficiency		mondoexuq1wtf				MONDO:0011225						True																				owl:Class
MONDO:0003344	biolink:NamedThing	obsolete hemangioblastoma		mondoexuq1wtf				MONDO:0016748						True																				owl:Class
MONDO:0000697	biolink:NamedThing	obsolete succinic semialdehyde dehydrogenase deficiency		mondoexuq1wtf				MONDO:0010083						True																				owl:Class
MONDO:0000139	biolink:NamedThing	obsolete microcephalic primordial dwarfism		mondoexuq1wtf				MONDO:0017950						True																				owl:Class
MONDO:0044924	biolink:NamedThing	obsolete acute myeloid leukemia with mutated CEBPA		mondoexuq1wtf				MONDO:0017894		NCIT noted acute myeloid leukemia with mutated CEBPA and acute myeloid leukemia with CEBPA somatic mutations are synonyms, they should be merged.				True																https://github.com/monarch-initiative/mondo/issues/366				owl:Class
MONDO:0000036	biolink:NamedThing	obsolete hemolytic anemia, nonspherocytic		mondoexuq1wtf										True																				owl:Class
MONDO:0000305	biolink:NamedThing	obsolete fusariosis		mondoexuq1wtf				MONDO:0016426						True																				owl:Class
MONDO:0000077	biolink:NamedThing	obsolete nystagmus		mondoexuq1wtf	obsolete nystagmus (disease)		obsolete nystagmus (disease)	MONDO:0005712						True																				owl:Class
MONDO:0017911	biolink:NamedThing	obsolete cleft lip/palate-ectodermal dysplasia syndrome		mondoexuq1wtf				MONDO:0009151						True																				owl:Class
MONDO:0004029	biolink:NamedThing	obsolete ureter small cell carcinoma		mondoexuq1wtf				MONDO:0006482						True																				owl:Class
MONDO:0003176	biolink:NamedThing	obsolete cervical adenoid cystic carcinoma		mondoexuq1wtf				MONDO:0006133						True																				owl:Class
MONDO:0004399	biolink:NamedThing	obsolete epithelial malignant thymoma		mondoexuq1wtf				MONDO:0006458						True																				owl:Class
MONDO:0016465	biolink:NamedThing	obsolete multiple intestinal atresia		mondoexuq1wtf				MONDO:0009465						True																				owl:Class
MONDO:0002986	biolink:NamedThing	obsolete neuromuscular disease		mondoexuq1wtf				MONDO:0019056						True																				owl:Class
MONDO:0000444	biolink:NamedThing	obsolete ARC syndrome		mondoexuq1wtf	pericyte cell syndromic disease			MONDO:0017123						True																				owl:Class
MONDO:0005733	biolink:NamedThing	obsolete dirofilariasis		mondoexuq1wtf				MONDO:0015636						True																				owl:Class
MONDO:0022469	biolink:NamedThing	obsolete aortic arches defect		mondoexuq1wtf		https://github.com/monarch-initiative/mondo/issues/141		MONDO:0015236						True																				owl:Class
OBO:mondo#related	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0002820	biolink:NamedThing	obsolete thyroid carcinoma		mondoexuq1wtf				MONDO:0015075						True																				owl:Class
MONDO:0007419	biolink:NamedThing	obsolete Darwinian tubercle of pinna		mondoexuq1wtf				MONDO:0007418						True																				owl:Class
MONDO:0006318	biolink:NamedThing	obsolete nevus of Ito		mondoexuq1wtf				MONDO:0016985						True																				owl:Class
MONDO:0015058	biolink:NamedThing	obsolete Waterhouse-Friderichsen syndrome		mondoexuq1wtf				MONDO:0006015						True																				owl:Class
MONDO:0001814	biolink:NamedThing	obsolete patent ductus arteriosus		mondoexuq1wtf				MONDO:0011827						True																				owl:Class
OIO:hasDbXref	biolink:NamedThing	database_cross_reference		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0019379	biolink:NamedThing	obsolete st. Louis encephalitis		mondoexuq1wtf				MONDO:0005969						True																				owl:Class
MONDO:0022463	biolink:NamedThing	obsolete anophthalmia megalocornea cardiopathy skeletal anomalies		mondoexuq1wtf				MONDO:0015230						True																				owl:Class
MONDO:0004300	biolink:NamedThing	obsolete intracortical osteogenic sarcoma		mondoexuq1wtf				MONDO:0002631						True																				owl:Class
MONDO:0003696	biolink:NamedThing	obsolete meningeal melanocytoma		mondoexuq1wtf				MONDO:0016746						True																				owl:Class
MONDO:0006100	biolink:NamedThing	obsolete Bartholin gland carcinoma		mondoexuq1wtf	obsolete Bartholin gland carcinoma (disease)		obsolete Bartholin gland carcinoma (disease)	MONDO:0002829						True																				owl:Class
MONDO:0003657	biolink:NamedThing	obsolete methotrexate-associated lymphoproliferation		mondoexuq1wtf				MONDO:0019483						True																				owl:Class
MONDO:0001545	biolink:NamedThing	obsolete von willebrand disease		mondoexuq1wtf	obsolete von willebrand's disease			MONDO:0019565						True																				owl:Class
MONDO:0000511	biolink:NamedThing	obsolete gallbladder adenoma		mondoexuq1wtf				MONDO:0006216						True																				owl:Class
MONDO:0006110	biolink:NamedThing	obsolete bladder adenocarcinoma		mondoexuq1wtf				MONDO:0002751						True																				owl:Class
MONDO:0003151	biolink:NamedThing	obsolete movement disease		mondoexuq1wtf				MONDO:0005395						True																				owl:Class
MONDO:0002015	biolink:NamedThing	obsolete brittle cornea syndrome		mondoexuq1wtf				MONDO:0009242						True																				owl:Class
MONDO:0005444	biolink:NamedThing	obsolete leishmaniasis		mondoexuq1wtf				MONDO:0011989						True																				owl:Class
MONDO:0008117	biolink:NamedThing	obsolete oculopharyngodistal myopathy		mondoexuq1wtf				MONDO:0020793		obsoleted as it was ambiguous as to whether it references the generic grouping or type 1				True																				owl:Class
MONDO:0010059	biolink:NamedThing	obsolete spinal muscular atrophy, type I, with congenital bone fractures		mondoexuq1wtf				MONDO:0014806		OMIM merged these records.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0000085	biolink:NamedThing	obsolete pituitary hormone deficiency, combined		mondoexuq1wtf							OMIMPS:613038			True		DC:0000358																		owl:Class
MONDO:0005400	biolink:NamedThing	obsolete ventricular fibrillation		mondoexuq1wtf				MONDO:0000190						True																				owl:Class
MONDO:0012633	biolink:NamedThing	obsolete malaria		mondoexuq1wtf				MONDO:0005136						True																				owl:Class
MONDO:0006252	biolink:NamedThing	obsolete infiltrating bladder lymphoepithelioma-like carcinoma		mondoexuq1wtf				MONDO:0004299						True																				owl:Class
MONDO:0008804	biolink:NamedThing	obsolete anus, imperforate		mondoexuq1wtf				MONDO:0010530						True																				owl:Class
MONDO:0004814	biolink:NamedThing	obsolete vascular skin disease		mondoexuq1wtf				MONDO:0019293						True																				owl:Class
MONDO:0002019	biolink:NamedThing	obsolete hypohidrotic ectodermal dysplasia		mondoexuq1wtf				MONDO:0016535						True																				owl:Class
MONDO:0002777	biolink:NamedThing	obsolete pleural empyema		mondoexuq1wtf				MONDO:0018667						True																				owl:Class
http://www.w3.org/2004/02/skos/core#exactMatch	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000354	biolink:NamedThing	obsolete JMP syndrome		mondoexuq1wtf				MONDO:0017959						True																https://github.com/monarch-initiative/mondo/issues/1271				owl:Class
MONDO:0005018	biolink:NamedThing	obsolete diffuse large B-cell lymphoma		mondoexuq1wtf				MONDO:0018905						True																				owl:Class
MONDO:0000068	biolink:NamedThing	obsolete mucolipidosis		mondoexuq1wtf				MONDO:0019248						True																				owl:Class
MONDO:0017664	biolink:NamedThing	obsolete rare genetic myoclonus		mondoexuq1wtf				MONDO:0017663						True																				owl:Class
MONDO:0000201	biolink:NamedThing	obsolete thyroid cancer, nonmedullary		mondoexuq1wtf				MONDO:0017896						True																				owl:Class
MONDO:0060722	biolink:NamedThing	obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities		mondoexuq1wtf				MONDO:0013346						True																				owl:Class
MONDO:0000076	biolink:NamedThing	obsolete neuropathy, hereditary sensory and autonomic		mondoexuq1wtf							MONDO:0015364			True																				owl:Class
MONDO:0000215	biolink:NamedThing	obsolete epilepsy, familial focal, with variable foci		mondoexuq1wtf				MONDO:0020310						True																				owl:Class
MONDO:0018519	biolink:NamedThing	obsolete squamous cell carcinoma of the anal canal		mondoexuq1wtf				MONDO:0004132						True																				owl:Class
MONDO:0015442	biolink:NamedThing	obsolete hereditary breast and ovarian cancer syndrome		mondoexuq1wtf				MONDO:0003582						True																				owl:Class
MONDO:0018578	biolink:NamedThing	obsolete hypophosphatemic rickets		mondoexuq1wtf				MONDO:0000044						True																				owl:Class
MONDO:0019842	biolink:NamedThing	obsolete pituitary apoplexy		mondoexuq1wtf				MONDO:0006908						True																				owl:Class
MONDO:0021628	biolink:NamedThing	obsolete lacrimal system disease		mondoexuq1wtf				MONDO:0001854						True																				owl:Class
MONDO:0002288	biolink:NamedThing	obsolete ovarian cancer		mondoexuq1wtf				MONDO:0016245						True																				owl:Class
MONDO:0000394	biolink:NamedThing	obsolete alcohol-related neurodevelopmental disorder		mondoexuq1wtf				MONDO:0016011						True																				owl:Class
MONDO:0000848	biolink:NamedThing	obsolete axial osteomalacia		mondoexuq1wtf				MONDO:0007181						True																				owl:Class
MONDO:0021725	biolink:NamedThing	obsolete Abderhalden-Kaufmann-Lignac syndrome		mondoexuq1wtf				MONDO:0100151						True																				owl:Class
MONDO:0000850	biolink:NamedThing	obsolete hypochondroplasia		mondoexuq1wtf				MONDO:0007793						True																				owl:Class
MONDO:0009834	biolink:NamedThing	obsolete pancreatic insufficiency, combined exocrine		mondoexuq1wtf				MONDO:0009479						True																				owl:Class
MONDO:0001477	biolink:NamedThing	obsolete aniridia		mondoexuq1wtf				MONDO:0019172						True																				owl:Class
MONDO:0006628	biolink:NamedThing	obsolete Sezary disease		mondoexuq1wtf	obsolete Sezary's disease			MONDO:0017844						True																				owl:Class
MONDO:0020166	biolink:NamedThing	obsolete telecanthus		mondoexuq1wtf				MONDO:0008537						True																				owl:Class
MONDO:0000725	biolink:NamedThing	obsolete Simpson-Golabi-Behmel syndrome		mondoexuq1wtf				MONDO:0010731						True																				owl:Class
MONDO:0000223	biolink:NamedThing	obsolete chikungunya		mondoexuq1wtf				MONDO:0017941						True																				owl:Class
http://www.w3.org/2004/02/skos/core#narrowMatch	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000493	biolink:NamedThing	obsolete Muckle-Wells syndrome		mondoexuq1wtf				MONDO:0008633						True																				owl:Class
MONDO:0000810	biolink:NamedThing	obsolete DMD-related dilated cardiomyopathy	A dilated cardiomyopathy that has material basis in mutations in the DMD gene.	mondoexuq1wtf				MONDO:0010542						True																				owl:Class
MONDO:0019539	biolink:NamedThing	obsolete retinopathy of prematurity		mondoexuq1wtf				MONDO:0006952						True																				owl:Class
MONDO:0000008	biolink:NamedThing	obsolete bare lymphocyte syndrome		mondoexuq1wtf										True																				owl:Class
OIO:hasNarrowSynonym	biolink:NamedThing	has_narrow_synonym		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000180	biolink:NamedThing	obsolete inflammatory skin and bowel disease, neonatal		mondoexuq1wtf				MONDO:0017411						True																				owl:Class
MONDO:0006437	biolink:NamedThing	obsolete superficial fibromatosis		mondoexuq1wtf				MONDO:0016037						True																				owl:Class
MONDO:0002609	biolink:NamedThing	obsolete gangliosidosis GM1		mondoexuq1wtf				MONDO:0018149						True																				owl:Class
MONDO:0005268	biolink:NamedThing	obsolete Hashimoto's thyroiditis		mondoexuq1wtf				MONDO:0007699						True																				owl:Class
MONDO:0018441	biolink:NamedThing	obsolete hepatitis delta		mondoexuq1wtf				MONDO:0005789						True																				owl:Class
MONDO:0000865	biolink:NamedThing	obsolete congenital fiber-type disproportion		mondoexuq1wtf		terms merged		MONDO:0009711						True																https://github.com/monarch-initiative/mondo/issues/2534				owl:Class
MONDO:0002827	biolink:NamedThing	obsolete urinary system cancer		mondoexuq1wtf				MONDO:0006295						True																				owl:Class
MONDO:0010724	biolink:NamedThing	obsolete RP6		mondoexuq1wtf				MONDO:0000910						True																				owl:Class
MONDO:0006293	biolink:NamedThing	obsolete malignant mixed neoplasm		mondoexuq1wtf				MONDO:0005853						True																				owl:Class
MONDO:0004113	biolink:NamedThing	obsolete HCL-v		mondoexuq1wtf				MONDO:0017600						True																				owl:Class
MONDO:0002560	biolink:NamedThing	obsolete junctional epidermolysis bullosa		mondoexuq1wtf				MONDO:0017612						True																				owl:Class
MONDO:0000768	biolink:NamedThing	obsolete Zika fever		mondoexuq1wtf				MONDO:0018661						True																				owl:Class
MONDO:0020551	biolink:NamedThing	obsolete hydatidiform mole		mondoexuq1wtf				MONDO:0006248						True																				owl:Class
MONDO:0016119	biolink:NamedThing	obsolete mitochondrial myopathy		mondoexuq1wtf				MONDO:0009637						True																				owl:Class
MONDO:0004793	biolink:NamedThing	obsolete uterine corpus cancer		mondoexuq1wtf				MONDO:0006003						True																				owl:Class
MONDO:0010892	biolink:NamedThing	obsolete mitochondrial myopathy and sideroblastic anemia		mondoexuq1wtf				MONDO:0000863						True																				owl:Class
MONDO:0005209	biolink:NamedThing	obsolete cutaneous T-cell lymphoma		mondoexuq1wtf				MONDO:0000607						True																				owl:Class
MONDO:0008631	biolink:NamedThing	obsolete renal agenesis		mondoexuq1wtf				MONDO:0018470						True																				owl:Class
MONDO:0000696	biolink:NamedThing	obsolete juvenile absence epilepsy		mondoexuq1wtf				MONDO:0011876						True																				owl:Class
MONDO:0003099	biolink:NamedThing	obsolete endophthalmitis		mondoexuq1wtf				MONDO:0016047						True																				owl:Class
MONDO:0005793	biolink:NamedThing	obsolete herpes simplex virus keratitis		mondoexuq1wtf				MONDO:0015288						True																				owl:Class
MONDO:0002484	biolink:NamedThing	obsolete breast ductal carcinoma		mondoexuq1wtf				MONDO:0005590						True																				owl:Class
MONDO:0001619	biolink:NamedThing	obsolete relapsing fever		mondoexuq1wtf				MONDO:0019633						True																				owl:Class
MONDO:0010609	biolink:NamedThing	obsolete Hirschsprung disease with type d brachydactyly		mondoexuq1wtf				MONDO:0016294						True																				owl:Class
OIO:shorthand	biolink:NamedThing	shorthand		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0003815	biolink:NamedThing	obsolete Cronkhite-Canada syndrome		mondoexuq1wtf				MONDO:0008283						True																				owl:Class
MONDO:0015276	biolink:NamedThing	obsolete prostate cancer		mondoexuq1wtf				MONDO:0008315						True																				owl:Class
MONDO:0024390	biolink:NamedThing	obsolete actinomycotic infectious disease		mondoexuq1wtf				MONDO:0006921						True																				owl:Class
MONDO:0017605	biolink:NamedThing	obsolete ependymal tumor		mondoexuq1wtf				MONDO:0003266						True																				owl:Class
MONDO:0003221	biolink:NamedThing	obsolete sclerosing hemangioma		mondoexuq1wtf				MONDO:0006280						True																				owl:Class
MONDO:0005317	biolink:NamedThing	obsolete fatty liver		mondoexuq1wtf				MONDO:0004790						True																				owl:Class
MONDO:0022850	biolink:NamedThing	obsolete congenital sucrose isomaltose malabsorption		mondoexuq1wtf				MONDO:0009114						True																				owl:Class
HP:0001000	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0005263	biolink:NamedThing	obsolete unipolar depression		mondoexuq1wtf		terms merged		MONDO:0002009						True																https://github.com/monarch-initiative/mondo/issues/2862				owl:Class
MONDO:0004284	biolink:NamedThing	obsolete malignant cystic nephroma		mondoexuq1wtf						obsoleted as cystic neprhomas are benign				True																				owl:Class
MONDO:0003119	biolink:NamedThing	obsolete histiocytoid hemangioma		mondoexuq1wtf				MONDO:0021169						True																				owl:Class
MONDO:0006852	biolink:NamedThing	obsolete meningococcal meningitis		mondoexuq1wtf				MONDO:0018059						True																				owl:Class
MONDO:0001432	biolink:NamedThing	obsolete sodoku disease		mondoexuq1wtf				MONDO:0020532						True																				owl:Class
MONDO:0019812	biolink:NamedThing	obsolete tricuspid valve prolapse		mondoexuq1wtf				MONDO:0007001						True																				owl:Class
MONDO:0002179	biolink:NamedThing	obsolete placental choriocarcinoma		mondoexuq1wtf				MONDO:0006374						True																				owl:Class
MONDO:0000401	biolink:NamedThing	obsolete congenital bile acid synthesis defect		mondoexuq1wtf				MONDO:0018841						True																				owl:Class
MONDO:0004654	biolink:NamedThing	obsolete pyomyositis		mondoexuq1wtf				MONDO:0019168						True																				owl:Class
MONDO:0019343	biolink:NamedThing	obsolete mixed connective tissue disease		mondoexuq1wtf				MONDO:0005854						True																				owl:Class
MONDO:0020319	biolink:NamedThing	obsolete acute myeloblastic leukemia without maturation		mondoexuq1wtf				MONDO:0005224						True																				owl:Class
MONDO:0002374	biolink:NamedThing	obsolete parachordoma		mondoexuq1wtf				MONDO:0006351						True																				owl:Class
MONDO:0003018	biolink:NamedThing	obsolete myotonic disease		mondoexuq1wtf				MONDO:0016107						True																				owl:Class
MONDO:0000264	biolink:NamedThing	obsolete Pontiac fever		mondoexuq1wtf				MONDO:0020487						True																				owl:Class
NCBITaxon:5806	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0003642	biolink:NamedThing	obsolete oral submucous fibrosis		mondoexuq1wtf				MONDO:0018166						True																				owl:Class
MONDO:0005199	biolink:NamedThing	obsolete peripartum cardiomyopathy		mondoexuq1wtf				MONDO:0018920						True																				owl:Class
MONDO:0018917	biolink:NamedThing	obsolete Marfan syndrome		mondoexuq1wtf				MONDO:0007947						True																				owl:Class
MONDO:0000900	biolink:NamedThing	obsolete PTEN hamartoma tumor syndrome		mondoexuq1wtf				MONDO:0017623						True																				owl:Class
MONDO:0013861	biolink:NamedThing	obsolete amyotrophic lateral sclerosis type 17		mondoexuq1wtf				MONDO:0010936		merged in OMIM				True																https://github.com/monarch-initiative/mondo/issues/2577				owl:Class
MONDO:0022423	biolink:NamedThing	obsolete alpha-2 deficient collagen disease		mondoexuq1wtf				MONDO:0008761		Duplicate.				True																https://github.com/monarch-initiative/mondo/issues/1764				owl:Class
MONDO:0005273	biolink:NamedThing	obsolete refractory anemia with excess blasts		mondoexuq1wtf				MONDO:0019454						True																				owl:Class
MONDO:0002446	biolink:NamedThing	obsolete hemoglobinopathy		mondoexuq1wtf				MONDO:0019050						True																				owl:Class
MONDO:0000877	biolink:NamedThing	obsolete Cryptococcal meningitis		mondoexuq1wtf				MONDO:0005723						True																				owl:Class
MONDO:0000055	biolink:NamedThing	obsolete major affective disorder		mondoexuq1wtf				MONDO:0004985						True																				owl:Class
MONDO:0007978	biolink:NamedThing	obsolete malignant mesothelioma		mondoexuq1wtf				MONDO:0006292						True																				owl:Class
MONDO:0001573	biolink:NamedThing	obsolete Friedreich ataxia		mondoexuq1wtf				MONDO:0009245						True																				owl:Class
MONDO:0006492	biolink:NamedThing	obsolete vulvar squamous cell carcinoma		mondoexuq1wtf				MONDO:0002210						True																				owl:Class
MONDO:0015866	biolink:NamedThing	obsolete malignant tumor of fallopian tubes		mondoexuq1wtf				MONDO:0002158						True																				owl:Class
MONDO:0000006	biolink:NamedThing	obsolete alopecia-mental retardation syndrome		mondoexuq1wtf										True		DC:0000017																		owl:Class
MONDO:0018272	biolink:NamedThing	obsolete small cell carcinoma of the ovary	A small cell carcinoma that involves the ovary.	mondoexuq1wtf	ovary small cell carcinoma			MONDO:0003795						True																				owl:Class
MONDO:0004839	biolink:NamedThing	obsolete neurofibroma		mondoexuq1wtf				MONDO:0016755						True																				owl:Class
MONDO:0016074	biolink:NamedThing	obsolete fibrosarcoma		mondoexuq1wtf				MONDO:0005164						True																				owl:Class
MONDO:0005343	biolink:NamedThing	obsolete viral human hepatitis		mondoexuq1wtf				MONDO:0006011						True																				owl:Class
MONDO:0005948	biolink:NamedThing	obsolete Ritter disease		mondoexuq1wtf				MONDO:0018181						True																				owl:Class
MONDO:0004154	biolink:NamedThing	obsolete central nervous system embryonal carcinoma		mondoexuq1wtf				MONDO:0018843						True																				owl:Class
MONDO:0000419	biolink:NamedThing	obsolete 3-Methylcrotonyl-CoA carboxylase deficiency		mondoexuq1wtf				MONDO:0018950						True																				owl:Class
MONDO:0006379	biolink:NamedThing	obsolete pleural mesothelioma		mondoexuq1wtf	obsolete pleural mesothelioma (disease)		obsolete pleural mesothelioma (disease)	MONDO:0003308						True																				owl:Class
MONDO:0020086	biolink:NamedThing	obsolete idiopathic interstitial pneumonia		mondoexuq1wtf				MONDO:0002429						True																				owl:Class
MONDO:0002430	biolink:NamedThing	obsolete acute interstitial pneumonia		mondoexuq1wtf				MONDO:0019203						True																				owl:Class
MONDO:0005666	biolink:NamedThing	obsolete berylliosis		mondoexuq1wtf				MONDO:0015274						True																				owl:Class
MONDO:0002160	biolink:NamedThing	obsolete cerebral palsy		mondoexuq1wtf				MONDO:0006497						True																				owl:Class
MONDO:0005069	biolink:NamedThing	obsolete narcolepsy with cataplexy		mondoexuq1wtf				MONDO:0016158						True																				owl:Class
OIO:hasExactSynonym	biolink:NamedThing	has_exact_synonym		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000759	biolink:NamedThing	obsolete acrorenal syndrome		mondoexuq1wtf				MONDO:0007059						True																				owl:Class
MONDO:0009289	biolink:NamedThing	obsolete glycogen storage disease IC		mondoexuq1wtf				MONDO:0009288		This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i				True																				owl:Class
MONDO:0010934	biolink:NamedThing	obsolete DFNB5		mondoexuq1wtf				MONDO:0000912						True																				owl:Class
MONDO:0003488	biolink:NamedThing	obsolete anal squamous cell carcinoma		mondoexuq1wtf				MONDO:0006082						True																				owl:Class
MONDO:0002893	biolink:NamedThing	obsolete chondroid chordoma		mondoexuq1wtf				MONDO:0006145						True																				owl:Class
MONDO:0019442	biolink:NamedThing	obsolete congenital toxoplasmosis		mondoexuq1wtf				MONDO:0005715						True																				owl:Class
MONDO:0020006	biolink:NamedThing	obsolete rare hematologic disease		mondoexuq1wtf				MONDO:0005570						True																				owl:Class
MONDO:0005428	biolink:NamedThing	obsolete pemphigus vulgaris		mondoexuq1wtf				MONDO:0008219						True																				owl:Class
MONDO:0000092	biolink:NamedThing	obsolete pyloric stenosis, infantile		mondoexuq1wtf				MONDO:0001560						True																				owl:Class
MONDO:0000011	biolink:NamedThing	obsolete chondrodysplasia		mondoexuq1wtf										True		DC:0000080																		owl:Class
SO:0000704	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0000830	biolink:NamedThing	obsolete Waldenstroem's macroglobulinemia		mondoexuq1wtf				MONDO:0007926						True																				owl:Class
MONDO:0004121	biolink:NamedThing	obsolete prostate small cell carcinoma		mondoexuq1wtf				MONDO:0006390						True																				owl:Class
MONDO:0005222	biolink:NamedThing	obsolete acute megakaryoblastic leukaemia		mondoexuq1wtf				MONDO:0004655						True																				owl:Class
GO:0043473	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OIO:hasOBOFormatVersion	biolink:NamedThing	has_obo_format_version		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000392	biolink:NamedThing	obsolete fetal alcohol syndrome		mondoexuq1wtf				MONDO:0016011						True																				owl:Class
MONDO:0003613	biolink:NamedThing	obsolete diffuse peritoneal leiomyomatosis		mondoexuq1wtf				MONDO:0006183						True																				owl:Class
MONDO:0000441	biolink:NamedThing	obsolete X-linked myopathy with excessive autophagy		mondoexuq1wtf				MONDO:0010684						True																				owl:Class
MONDO:0000269	biolink:NamedThing	obsolete inhalation anthrax		mondoexuq1wtf				MONDO:0016595						True																				owl:Class
MONDO:0000221	biolink:NamedThing	obsolete cerebroretinal microangiopathy with calcifications and cysts		mondoexuq1wtf										True																				owl:Class
OIO:created_by	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0020150	biolink:NamedThing	obsolete obsolete rare palpebral, lacrimal system and conjunctival disease		mondoexuq1wtf		MONDO:outOfScope				Obsolete in Orphanet	UMLS:CN207025|Orphanet:98559			True																https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254				owl:Class
MONDO:0006860	biolink:NamedThing	obsolete mucoepidermoid tumor		mondoexuq1wtf				MONDO:0003036						True																				owl:Class
MONDO:0018195	biolink:NamedThing	obsolete non-seminomatous germ cell tumor of testis		mondoexuq1wtf				MONDO:0002873						True																				owl:Class
NCBITaxon:1817	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0002456	biolink:NamedThing	obsolete cervix carcinoma		mondoexuq1wtf				MONDO:0005131						True																				owl:Class
MONDO:0003560	biolink:NamedThing	obsolete adenosquamous pancreas carcinoma		mondoexuq1wtf				MONDO:0005614						True																				owl:Class
MONDO:0003566	biolink:NamedThing	obsolete choroid plexus carcinoma		mondoexuq1wtf				MONDO:0016718						True																				owl:Class
MONDO:0018819	biolink:NamedThing	obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome		mondoexuq1wtf				MONDO:0009526						True																				owl:Class
MONDO:0011515	biolink:NamedThing	obsolete papillary renal cell carcinoma		mondoexuq1wtf				MONDO:0017884						True																				owl:Class
MONDO:0020536	biolink:NamedThing	obsolete pigeon-breeder lung disease		mondoexuq1wtf				MONDO:0005668		This term is too granulalr and was merged with bird fancier's lung.				True																https://github.com/monarch-initiative/mondo/issues/385				owl:Class
MONDO:0009730	biolink:NamedThing	obsolete nephrosialidosis		mondoexuq1wtf				MONDO:0009738						True																				owl:Class
MONDO:0011526	biolink:NamedThing	obsolete Sebastian syndrome		mondoexuq1wtf				MONDO:0007954						True																				owl:Class
MONDO:0006415	biolink:NamedThing	obsolete small intestinal adenocarcinoma		mondoexuq1wtf				MONDO:0003198						True																				owl:Class
MONDO:0006623	biolink:NamedThing	obsolete autoimmune pancreatitis type 1		mondoexuq1wtf				MONDO:0017227						True																				owl:Class
OIO:hasAlternativeId	biolink:NamedThing	has_alternative_id		mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0006253	biolink:NamedThing	obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant		mondoexuq1wtf				MONDO:0004278						True																				owl:Class
MONDO:0019069	biolink:NamedThing	obsolete rhabdoid tumor		mondoexuq1wtf				MONDO:0002728						True																				owl:Class
MONDO:0000274	biolink:NamedThing	obsolete tick-borne encephalitis		mondoexuq1wtf				MONDO:0017572						True																				owl:Class
MONDO:0010202	biolink:NamedThing	obsolete Wiskott-Aldrich syndrome		mondoexuq1wtf				MONDO:0010518						True																				owl:Class
MONDO:0019363	biolink:NamedThing	obsolete murine typhus		mondoexuq1wtf				MONDO:0000330						True																				owl:Class
MONDO:0005422	biolink:NamedThing	obsolete nodular sclerosis Hodgkin lymphoma	A distinct, highly heritable Hodgkin lymphoma subtype.	mondoexuq1wtf				MONDO:0004665						True																				owl:Class
MONDO:0010240	biolink:NamedThing	obsolete androgen insensitivity syndrome		mondoexuq1wtf				MONDO:0019154						True																				owl:Class
MONDO:0000039	biolink:NamedThing	obsolete hypercalciuria, absorptive		mondoexuq1wtf										True																				owl:Class
MONDO:0001963	biolink:NamedThing	obsolete cerebral degeneration disease		mondoexuq1wtf				MONDO:0005559						True																				owl:Class
NCBITaxon:813	biolink:NamedThing			mondoexuq1wtf																														owl:Class
MONDO:0001968	biolink:NamedThing	obsolete 46 XY gonadal dysgenesis		mondoexuq1wtf				MONDO:0010765						True																				owl:Class
MONDO:0015287	biolink:NamedThing	obsolete vulvar intraepithelial neoplasia		mondoexuq1wtf				MONDO:0005198						True																				owl:Class
MONDO:0019798	biolink:NamedThing	obsolete acute hepatic porphyria		mondoexuq1wtf				MONDO:0002520						True																				owl:Class
MONDO:0002704	biolink:NamedThing	obsolete appendix adenocarcinoma		mondoexuq1wtf				MONDO:0006087						True																				owl:Class
MONDO:0002148	biolink:NamedThing	obsolete sphingolipidosis		mondoexuq1wtf				MONDO:0019255						True																				owl:Class
MONDO:0006461	biolink:NamedThing	obsolete thyroid gland carcinoma		mondoexuq1wtf				MONDO:0015075						True																				owl:Class
MONDO:0002673	biolink:NamedThing	obsolete dermatofibrosarcoma protuberans		mondoexuq1wtf				MONDO:0011934						True																				owl:Class
OIO:hasBroadSynonym	biolink:NamedThing	has_broad_synonym		mondoexuq1wtf																														owl:AnnotationProperty
http://www.w3.org/2004/02/skos/core#broadMatch	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0000982	biolink:NamedThing	obsolete Brown's tendon sheath syndrome		mondoexuq1wtf				MONDO:0014624						True																				owl:Class
MONDO:0002147	biolink:NamedThing	obsolete Coffin-Siris syndrome		mondoexuq1wtf				MONDO:0015452						True																				owl:Class
MONDO:0004798	biolink:NamedThing	obsolete Sheehan syndrome		mondoexuq1wtf				MONDO:0019618						True																				owl:Class
MONDO:0006768	biolink:NamedThing	obsolete gastric outlet obstruction	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	mondoexuq1wtf				MONDO:0001561						True																				owl:Class
MONDO:0000558	biolink:NamedThing	obsolete spastic ataxia		mondoexuq1wtf				MONDO:0017845						True																				owl:Class
MONDO:0000542	biolink:NamedThing	obsolete duodenum adenoma		mondoexuq1wtf				MONDO:0006187						True																				owl:Class
MONDO:0018427	biolink:NamedThing	obsolete fibrolamellar carcinoma		mondoexuq1wtf				MONDO:0006210						True																				owl:Class
MONDO:0004115	biolink:NamedThing	obsolete gallbladder small cell carcinoma		mondoexuq1wtf	gall bladder small cell carcinoma			MONDO:0006219						True																				owl:Class
MONDO:0004906	biolink:NamedThing	obsolete hereditary fructose intolerance syndrome		mondoexuq1wtf				MONDO:0009249						True																				owl:Class
MONDO:0000398	biolink:NamedThing	obsolete female breast cancer		mondoexuq1wtf				MONDO:0004379						True																				owl:Class
IAO:0000231	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0005924	biolink:NamedThing	obsolete pneumocystosis		mondoexuq1wtf				MONDO:0019121						True																				owl:Class
MONDO:0020498	biolink:NamedThing	obsolete Lassa fever		mondoexuq1wtf				MONDO:0005820						True																				owl:Class
MONDO:0005243	biolink:NamedThing	obsolete Cushing syndrome		mondoexuq1wtf				MONDO:0018912						True																				owl:Class
owl:deprecated	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0003407	biolink:NamedThing	obsolete ovarian yolk sac tumor		mondoexuq1wtf				MONDO:0006344						True																				owl:Class
MONDO:0001018	biolink:NamedThing	obsolete lymphoblastic leukemia		mondoexuq1wtf				MONDO:0004967						True																				owl:Class
MONDO:0000364	biolink:NamedThing	obsolete severe congenital neutropenia		mondoexuq1wtf				MONDO:0018542						True																				owl:Class
MONDO:0002711	biolink:NamedThing	obsolete angiolipoma		mondoexuq1wtf				MONDO:0006085						True																				owl:Class
MONDO:0008851	biolink:NamedThing	obsolete autism		mondoexuq1wtf				MONDO:0005260						True																				owl:Class
MONDO:0003703	biolink:NamedThing	obsolete uterine corpus leiomyomatosis		mondoexuq1wtf				MONDO:0003704						True																				owl:Class
rdfs:comment	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0005818	biolink:NamedThing	obsolete Langerhans cell sarcoma		mondoexuq1wtf				MONDO:0019480						True																				owl:Class
MONDO:0018313	biolink:NamedThing	obsolete uveal melanoma		mondoexuq1wtf				MONDO:0006486						True																				owl:Class
MONDO:0019070	biolink:NamedThing	obsolete liposarcoma		mondoexuq1wtf				MONDO:0005060						True																				owl:Class
MONDO:0008997	biolink:NamedThing	obsolete Cockayne syndrome A		mondoexuq1wtf				MONDO:0019569						True																				owl:Class
MONDO:0000124	biolink:NamedThing	obsolete focal facial dermal dysplasia		mondoexuq1wtf				MONDO:0018363						True																				owl:Class
IAO:0000589	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
MONDO:0002296	biolink:NamedThing	obsolete glomus tumor		mondoexuq1wtf				MONDO:0018327						True																				owl:Class
MONDO:0003229	biolink:NamedThing	obsolete lymphedema		mondoexuq1wtf				MONDO:0019297						True																				owl:Class
MONDO:0001107	biolink:NamedThing	obsolete cerebral lipidosis		mondoexuq1wtf				MONDO:0020143						True																				owl:Class
MONDO:0000853	biolink:NamedThing	obsolete Kniest dysplasia		mondoexuq1wtf				MONDO:0007987						True																				owl:Class
MONDO:0005421	biolink:NamedThing	obsolete infantile hypertrophic pyloric stenosis		mondoexuq1wtf				MONDO:0001560						True																				owl:Class
MONDO:0003116	biolink:NamedThing	obsolete calciphylaxis		mondoexuq1wtf				MONDO:0017215						True																				owl:Class
MONDO:0003489	biolink:NamedThing	obsolete middle ear squamous cell carcinoma		mondoexuq1wtf				MONDO:0006303						True																				owl:Class
MONDO:0001980	biolink:NamedThing	obsolete Wolman disease		mondoexuq1wtf				MONDO:0019148						True																				owl:Class
MONDO:0003418	biolink:NamedThing	obsolete bile duct adenoma		mondoexuq1wtf				MONDO:0006108						True																				owl:Class
dc:date	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
OIO:inSubset	biolink:NamedThing	in_subset		mondoexuq1wtf																														owl:AnnotationProperty
OIO:creation_date	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
UBERON:0000970	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OIO:is_metadata_tag	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
UBERON:0005985	biolink:NamedThing			mondoexuq1wtf																														owl:Class
OIO:hasSynonymType	biolink:NamedThing	has_synonym_type		mondoexuq1wtf																														owl:AnnotationProperty
http://www.w3.org/2004/02/skos/core#closeMatch	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
OBO:mondo#excluded_synonym	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
NCBITaxon:28844	biolink:NamedThing			mondoexuq1wtf																														owl:Class
GO:0098794	biolink:NamedThing			mondoexuq1wtf																														owl:Class
DOID:8418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619203	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:721173005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554462	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0677050	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0012746	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090137	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566955	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151147	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192437007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206502	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:449156009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968551	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:206860008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562456	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85278	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3864	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:364013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77128003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4556007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C87062	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080131	biolink:NamedThing			mondoexuq1wtf																														
DOID:5485	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111355	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201349	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227336	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005148	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150703	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280746	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198033005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156401005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3245522	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844863	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857845	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618138	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751987	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156902006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601885	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567283	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240526004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16297002	biolink:NamedThing			mondoexuq1wtf																														
DOID:7305	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206492	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837595	biolink:NamedThing			mondoexuq1wtf																														
DOID:12328	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249900	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110044	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238902007	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013971	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163950	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27108	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277700	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110674	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050674	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565	biolink:NamedThing			mondoexuq1wtf																														
DOID:3030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:356996	biolink:NamedThing			mondoexuq1wtf																														
MESH:D029502	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554524	biolink:NamedThing			mondoexuq1wtf																														
DOID:5039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723446006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566985	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266228004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182220	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/116100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206322	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080653	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22197008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188030005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/206900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715425000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300337	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617388	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86638007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:134210007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN633295	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C117307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74276003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859257	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183637	biolink:NamedThing			mondoexuq1wtf																														
DOID:6088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719665003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796663	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589542	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603119	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:28488007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10686	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95720	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27614006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724177005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553060	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/270450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24700007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198147007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/242520	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16006009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284426	biolink:NamedThing			mondoexuq1wtf																														
DOID:505	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40384	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615999	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763536006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018889	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606937	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139423	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197095003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110774	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347103	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/535000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519872	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75400001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188050009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9651007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4904	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040021	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10016819	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150706	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:438075	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205414007	biolink:NamedThing			mondoexuq1wtf																														
OIO:id	biolink:NamedThing			mondoexuq1wtf																														owl:AnnotationProperty
ORPHA:2494	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1511192	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536398	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302866003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565621	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566311	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608232	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0451641	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0699744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1516413	biolink:NamedThing			mondoexuq1wtf																														
DOID:12120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148023	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314029	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5609	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166350	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601466	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334704	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7420	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186778008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0015957	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:864	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857530	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751811	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011251	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110340	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193411004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618721	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011762	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970158	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720817008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005489	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014628	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003234	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33982008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247200	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7464	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111213	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242634	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155188	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014412	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193867003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128193	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332340	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864965	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:86081009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30293000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334785	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154268000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1514422	biolink:NamedThing			mondoexuq1wtf																														
DOID:7429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618940	biolink:NamedThing			mondoexuq1wtf																														
DOID:13814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334768	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564157	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN042654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73013002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C49012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272217	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602068	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6300	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564597	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080559	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234532001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190437000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0263312	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613702	biolink:NamedThing			mondoexuq1wtf																														
DOID:8485	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155325006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3468041	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:27868004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6083	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233665006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019572	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717963001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93111	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675904	biolink:NamedThing			mondoexuq1wtf																														
DOID:1209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35668	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150926	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C113172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193693008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563880	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94072004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155482006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431286	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217371	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:603	biolink:NamedThing			mondoexuq1wtf																														
DOID:8178	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268630000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060419	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/218530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98772	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613424	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C37261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610651	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2932716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205713	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:157006001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1177	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140963	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0859920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105637008	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10057621	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278869	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3490	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607354	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39853	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176780	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96416	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564034	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3888244	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254875009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300915	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030783	biolink:NamedThing			mondoexuq1wtf																														
DOID:3096	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27723	biolink:NamedThing			mondoexuq1wtf																														
DOID:312	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178029	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/139400	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193038	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192212000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:94063	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99123	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535729	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268283	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96109	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:137596	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84533	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4604	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052065	biolink:NamedThing			mondoexuq1wtf																														
DOID:11823	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244395	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613207	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070264	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110996	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3383	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:166487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:298285004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56692003	biolink:NamedThing			mondoexuq1wtf																														
DOID:3401	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856143	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26821	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3281223	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336764	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202863	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:39625001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537136	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080362	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144300	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835030	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79141	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:35263009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764453009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:16059006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98638	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004779	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:443961001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88415009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1867393	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849405	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254525	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34710	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:129639005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:95433	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0403396	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68373	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78355003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005099	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98503	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702342007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268536	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1947	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181431	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619215	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3279793	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936755	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563530	biolink:NamedThing			mondoexuq1wtf																														
DOID:13078	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C38110	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206081	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254708001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110488	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48449000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715817007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:282008000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157719	biolink:NamedThing			mondoexuq1wtf																														
DOID:4131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190761008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7718	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5830	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99934	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188342008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000377	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3480	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151411	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39831	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:264949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268837	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155703003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3092	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34807	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280795	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155521003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335183	biolink:NamedThing			mondoexuq1wtf																														
DOID:9246	biolink:NamedThing			mondoexuq1wtf																														
DOID:6425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302200	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202625	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92211008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719811001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77252004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006995	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019104	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563233	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537421	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151206	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110929	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10052210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN757796	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314795	biolink:NamedThing			mondoexuq1wtf																														
DOID:14353	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128425	biolink:NamedThing			mondoexuq1wtf																														
DOID:4687	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4329374	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196985000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340544	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090125	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300580	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617959	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370019	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84546	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98991	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563971	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403983000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2076600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864957	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012587	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197270009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109378008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1459	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254935002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34564	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:488627	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845026	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/209885	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187750	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110769	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536885	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98978	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5552	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001649	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535716	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206633	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060406	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36082	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854328	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111205	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265950	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849661	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124208000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796133	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007194	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763794005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C51447	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205864	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188755006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607341	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537846	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:404584	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536663	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:432328008	biolink:NamedThing			mondoexuq1wtf																														
DOID:6846	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10002641	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254816001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:168609	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0494040	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332198	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834876	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN034490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7711	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0009492	biolink:NamedThing			mondoexuq1wtf																														
DOID:4389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188573006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538142	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334695	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222765	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189790006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538161	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717157006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518839	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226185	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018902	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261272	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566907	biolink:NamedThing			mondoexuq1wtf																														
DOID:13249	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196251008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/164210	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99129	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005096	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336530	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92624000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78424008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93580	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83275001	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10037322	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4243004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613107	biolink:NamedThing			mondoexuq1wtf																														
DOID:2239	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178536	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93868009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34555	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150682	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566884	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2566	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406811	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190060004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205614001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35672	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/112440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085417	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:33325001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564416	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238454	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835813	biolink:NamedThing			mondoexuq1wtf																														
DOID:528	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854248	biolink:NamedThing			mondoexuq1wtf																														
DOID:10794	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540029	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111484	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:220493	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85184	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:300930008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:157791	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012559	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070251	biolink:NamedThing			mondoexuq1wtf																														
DOID:4621	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:458432002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0237020	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537560	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536039	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723554006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021775	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538616	biolink:NamedThing			mondoexuq1wtf																														
DOID:9672	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188279009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42385006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566377	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:499	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61259	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853296	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:359610006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7058	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57534004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677092	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/274265	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496686	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188207007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153062	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865270	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271353	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855345	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439232	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92047003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155005001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724229002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617252	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336901	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605749	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10021076	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280441	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003838	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266353003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92634009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969809	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614498	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226956	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601331	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277654008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/175510	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111130	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535582	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615612	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763619009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:419398009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71290	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204031003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154074	biolink:NamedThing			mondoexuq1wtf																														
DOID:1756	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1456268	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2963	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615363	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:248296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080528	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070201	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085280	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567193	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609200	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254230001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725911008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0473132	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0740457	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726342002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3272822	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342684	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853911	biolink:NamedThing			mondoexuq1wtf																														
DOID:1973	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060483	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448993007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:23	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8381	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717055000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864499	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930951	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238085009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809950	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608174	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032708	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46487	biolink:NamedThing			mondoexuq1wtf																														
DOID:10554	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537933	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C67237	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836481	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565406	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058919	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25913001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178338	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536403	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154287006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96183	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7502	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2960	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C155752	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:255241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0013395	biolink:NamedThing			mondoexuq1wtf																														
DOID:10378	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93825008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232141000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719209002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563316	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67049004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858696	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C97177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859752	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614067	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78902000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:275742	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519485	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51886007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618929	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4140	biolink:NamedThing			mondoexuq1wtf																														
DOID:348	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0259786	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024198	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302833002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342344	biolink:NamedThing			mondoexuq1wtf																														
DOID:7602	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859303	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864942	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615510	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:44769000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5918	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608978	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111532	biolink:NamedThing			mondoexuq1wtf																														
DOID:11037	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613490	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201604	biolink:NamedThing			mondoexuq1wtf																														
DOID:10341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600972	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239286	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203984008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567654	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855606	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1727	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000068099	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613150	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618850	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205641	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564832	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040954	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1763009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617638	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34458	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563792	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1545	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233604007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126788000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239957000	biolink:NamedThing			mondoexuq1wtf																														
DOID:484	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226130	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/264800	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617391	biolink:NamedThing			mondoexuq1wtf																														
DOID:14107	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200643006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751669	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071093	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/123050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:685	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251902	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C78346	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442696006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C132102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35023	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302822000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111521	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887996	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432271	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27204	biolink:NamedThing			mondoexuq1wtf																														
DOID:7983	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329191	biolink:NamedThing			mondoexuq1wtf																														
MESH:D057765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189278008	biolink:NamedThing			mondoexuq1wtf																														
DOID:13351	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269465004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060138	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537936	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003922	biolink:NamedThing			mondoexuq1wtf																														
DOID:3369	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6776	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0472694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026471	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150418	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110047	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319547	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72495009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203229	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/244600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614652	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848914	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/227200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617527	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34536	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99055	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237751000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2866	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204686003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111496	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26726000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1570	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:82	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334673	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128883006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291620	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751083	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/113650	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303110	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193858003	biolink:NamedThing			mondoexuq1wtf																														
DOID:11946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201824	biolink:NamedThing			mondoexuq1wtf																														
DOID:14472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931143	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564140	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563679	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:1744008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D019957	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:170713008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842082	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/119600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0014070	biolink:NamedThing			mondoexuq1wtf																														
DOID:2978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:71278	biolink:NamedThing			mondoexuq1wtf																														
DOID:10027	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614188	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34612	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0205792	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95467005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564968	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3838731	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862101	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40382	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26169004	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768934004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0078917	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494454	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519858	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615415	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748732	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607453	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310630	biolink:NamedThing			mondoexuq1wtf																														
DOID:11156	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868690	biolink:NamedThing			mondoexuq1wtf																														
DOID:5042	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443236	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016776	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618457	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34918	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254370	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C101201	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74421008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018235	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193107002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535841	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264511	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050429	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3861	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857043	biolink:NamedThing			mondoexuq1wtf																														
DOID:9024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:258714003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554399	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188187004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3850	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187239003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199644009	biolink:NamedThing			mondoexuq1wtf																														
DOID:1089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346251	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265928	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0269107	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277450	biolink:NamedThing			mondoexuq1wtf																														
DOID:12934	biolink:NamedThing			mondoexuq1wtf																														
DOID:12960	biolink:NamedThing			mondoexuq1wtf																														
DOID:9697	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20991001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:139444	biolink:NamedThing			mondoexuq1wtf																														
DOID:4787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70593	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43079004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565779	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110830	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154589005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4307	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716590006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7046009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271693	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123230	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309319	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/237100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1377843	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163209	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251592	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35212	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:386207004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200907	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840394	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86923	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202580	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3512	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193088006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842816	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36948007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN197468	biolink:NamedThing			mondoexuq1wtf																														
MESH:D054853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4518774	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:7119001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:393583008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3628	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110799	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614514	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127015005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201679	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324737	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C130989	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2386	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C114470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536616	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968804	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:313808	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613686	biolink:NamedThing			mondoexuq1wtf																														
DOID:7584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:20059004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:34526	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536853	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016908	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006816	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001889	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563408	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2919304	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110046	biolink:NamedThing			mondoexuq1wtf																														
DOID:3292	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:41291007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C580334	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349543	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3378	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845051	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618236	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47452006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931036	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763070001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615431	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111359	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:45002009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538290	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332893	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:541423	biolink:NamedThing			mondoexuq1wtf																														
DOID:13800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98970	biolink:NamedThing			mondoexuq1wtf																														
DOID:956	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98639	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011604	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5141	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84900	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99763	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/107600	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52448006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188690006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239020008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6930	biolink:NamedThing			mondoexuq1wtf																														
DOID:6284	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843211	biolink:NamedThing			mondoexuq1wtf																														
DOID:18	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1852041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4577	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610448	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227604	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715824008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1263724	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3806579	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554343	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609166	biolink:NamedThing			mondoexuq1wtf																														
DOID:4918	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748560	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000071017	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111103	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0496784	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126906006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204066	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:102003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206718	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265339	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2674876	biolink:NamedThing			mondoexuq1wtf																														
DOID:2712	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404077005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861516	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002032	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110138	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043648	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763868006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/125050	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110144	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/100070	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/111800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225415	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:100985	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195250004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63443	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/174000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207440	biolink:NamedThing			mondoexuq1wtf																														
DOID:5703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4049993	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN078029	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536496	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/272950	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187611007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2678263	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155952005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10064587	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:314597	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853120	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C89801	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003177	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:367337005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070024	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/312150	biolink:NamedThing			mondoexuq1wtf																														
DOID:12294	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:369861	biolink:NamedThing			mondoexuq1wtf																														
DOID:11206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193076009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:75072002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617169	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748988	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10034878	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009371	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266380005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796244	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93613	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080573	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7355	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008171	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178548	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:46488	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204968	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:52441000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11211003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225209	biolink:NamedThing			mondoexuq1wtf																														
DOID:12309	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616299	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537598	biolink:NamedThing			mondoexuq1wtf																														
DOID:1703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/101805	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154019	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251646	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:199650004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858279	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111364	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090021	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3369	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310657	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36535	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060379	biolink:NamedThing			mondoexuq1wtf																														
DOID:4531	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7480	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192157003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398625	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562742	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79855003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152137	biolink:NamedThing			mondoexuq1wtf																														
DOID:524	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:494	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010927	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719252002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1384816	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050576	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619179	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271853	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197138002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567346	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536899	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0017636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154735	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0477373	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111658	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266194	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536371	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0178829	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609529	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833921	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715987000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203737	biolink:NamedThing			mondoexuq1wtf																														
DOID:896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851718	biolink:NamedThing			mondoexuq1wtf																														
DOID:5776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65194006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011605	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300861	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080467	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22649008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329466	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35117	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860213	biolink:NamedThing			mondoexuq1wtf																														
DOID:1556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:399185	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563023	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0684333	biolink:NamedThing			mondoexuq1wtf																														
DOID:11233	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11263005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617141	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/146300	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206179	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32599008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50783	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207136	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776886	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:53540	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609271	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:63137003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60750009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443095	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98277	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029400	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0398776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53991003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042267	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:275468009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208981	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110591	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154668007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616409	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:235917005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567486	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615508	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750447	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240559001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0853662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151266	biolink:NamedThing			mondoexuq1wtf																														
DOID:14213	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:250984	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931237	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050901	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:300319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0348970	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931655	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335163	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/248770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194033002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3360	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808964	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:370927	biolink:NamedThing			mondoexuq1wtf																														
DOID:9206	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93861003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030612	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110588	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334259	biolink:NamedThing			mondoexuq1wtf																														
DOID:8584	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042470	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677085	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188212008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4302876	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129900	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194036005	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062935	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565733	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564528	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352662	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859406	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/217090	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:91135	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155519	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000160	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310817	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111508	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565652	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228119	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4989	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108120	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016045	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606392	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101028	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553762	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017074	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207534005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724840004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304595	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:32398004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567718	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98366	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294951	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84829	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071135	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155175002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015596	biolink:NamedThing			mondoexuq1wtf																														
DOID:1339	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3162	biolink:NamedThing			mondoexuq1wtf																														
MESH:D009041	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4691	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187696003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57937000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851463	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564315	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/138800	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7462	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10009013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239031000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050470	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98584	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2859	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295154	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:312133006	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537249	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282983	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266295	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151057	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:6950007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400096001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227742	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/129510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56046002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98658	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198017007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:105999006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397015000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206733	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4288403	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:442652006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/243000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72925005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2748505	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3190	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060708	biolink:NamedThing			mondoexuq1wtf																														
DOID:833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0400923	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268684002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0042998	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3163825	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2958	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618451	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2673520	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065148	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:371521007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563553	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415374	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97332	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C119050	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:331	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310798	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4283893	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189875000	biolink:NamedThing			mondoexuq1wtf																														
DOID:8110	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111568	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C148327	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554686	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1275122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11178005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200295	biolink:NamedThing			mondoexuq1wtf																														
DOID:203	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84734	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:302	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128345	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3808166	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750548	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015728	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610738	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843884	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842446	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:448054001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553597	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43614003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276905	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3629	biolink:NamedThing			mondoexuq1wtf																														
DOID:5260	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836202	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080269	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1827409	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565561	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969369	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518871	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040262	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662057	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/180020	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:387800004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567358	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:84271	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080233	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/108050	biolink:NamedThing			mondoexuq1wtf																														
DOID:8392	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5851	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617105	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070223	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720606005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217335	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN230278	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:182228	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699699005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70065001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97944	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196070008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226962	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110608	biolink:NamedThing			mondoexuq1wtf																														
DOID:12161	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93292	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1261567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931124	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564706	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194348002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6382	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610439	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154743001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:417357006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262010	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110513	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612020	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176920	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302810003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3873302	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564025	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3553517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/105570	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536027	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332968	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842062	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611016	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563772	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194054009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192968004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:87503	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3891714	biolink:NamedThing			mondoexuq1wtf																														
DOID:5488	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619256	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618851	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080116	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618185	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110359	biolink:NamedThing			mondoexuq1wtf																														
DOID:7234	biolink:NamedThing			mondoexuq1wtf																														
MESH:D025962	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554105	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616089	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN234898	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725045004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1968699	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3151571	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012594	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171876	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93740003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677094	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/305100	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129075	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53953	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:674	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930895	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225375	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261836	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155245	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124538	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839456	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205792006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065632	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193545009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98873	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403990005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618724	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84573	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194816008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718189004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614388	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/265880	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306588	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193410003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86906	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715768000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036412	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5556	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93895004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5823	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12957008	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0005866	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0039516	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203392	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10015034	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930962	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:240863	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719011002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C61261	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567147	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280586	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190462000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266427007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300989	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225353	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111542008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:70848009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1916	biolink:NamedThing			mondoexuq1wtf																														
DOID:9370	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:36412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724137002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34399	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225386	biolink:NamedThing			mondoexuq1wtf																														
MESH:D052177	biolink:NamedThing			mondoexuq1wtf																														
DOID:11294	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:711152006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065817	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10006205	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931543	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567357	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204731006	biolink:NamedThing			mondoexuq1wtf																														
DOID:3753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0037917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346867	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060153	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79471008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008289	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:18126004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90363	biolink:NamedThing			mondoexuq1wtf																														
DOID:11165	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:73381000119100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:424058	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2123	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1282975	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261920	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432029	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0274869	biolink:NamedThing			mondoexuq1wtf																														
DOID:10908	biolink:NamedThing			mondoexuq1wtf																														
DOID:4013	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2699747	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/602497	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9794007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191691000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562793	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33108	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566724	biolink:NamedThing			mondoexuq1wtf																														
DOID:6041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/126100	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120050	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194651002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127232002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:307496006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857255	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266540000	biolink:NamedThing			mondoexuq1wtf																														
DOID:1036	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10068335	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:110006004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202175	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012779	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277150	biolink:NamedThing			mondoexuq1wtf																														
MESH:D065708	biolink:NamedThing			mondoexuq1wtf																														
DOID:5975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010051	biolink:NamedThing			mondoexuq1wtf																														
DOID:10808	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857492	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:852	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197828005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39827	biolink:NamedThing			mondoexuq1wtf																														
DOID:4892	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718633009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C111856	biolink:NamedThing			mondoexuq1wtf																														
DOID:1404	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27849	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/120000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/236100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154304	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:764	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562741	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202458	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:277523004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719580004	biolink:NamedThing			mondoexuq1wtf																														
DOID:57	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281090	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:716	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93387	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838161	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300619	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535395	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:528623	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0595987	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617175	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615290	biolink:NamedThing			mondoexuq1wtf																														
DOID:4084	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195693005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3683483	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676487	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720501007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0750929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/605934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199365	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3275	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:67	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1909	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566604	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085860	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2749345	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860212	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50766	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763535005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:589547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35715	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195962007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123323003	biolink:NamedThing			mondoexuq1wtf																														
DOID:10778	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198164005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194590009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717812000	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050529	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201325006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193791004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179488	biolink:NamedThing			mondoexuq1wtf																														
DOID:5341	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/311350	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34757	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007619	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080426	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80801001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98274	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47017007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719475006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:459548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189780003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619263	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537280	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4443	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:353351	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:777	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26841	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398109	biolink:NamedThing			mondoexuq1wtf																														
DOID:6086	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567325	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:178400	biolink:NamedThing			mondoexuq1wtf																														
DOID:3523	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537896	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:708536001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187460007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192685000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:58008004	biolink:NamedThing			mondoexuq1wtf																														
DOID:4148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294998	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75120	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015266	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81987005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:439732004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563898	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538113	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855885	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0558595	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263508	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90649	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616540	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN228160	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264342	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:279611005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4305468	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:302870006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006548	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:400173004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538049	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4774	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439196	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615707	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10069408	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616279	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2994	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060032	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332969	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013319	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:252202	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848171	biolink:NamedThing			mondoexuq1wtf																														
DOID:5862	biolink:NamedThing			mondoexuq1wtf																														
DOID:9138	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:441891001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2939465	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444116	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016921	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058493	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98912	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0687751	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:207538008	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110163	biolink:NamedThing			mondoexuq1wtf																														
DOID:5723	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835713	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567469	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5664	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608971	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193020	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203262	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40255	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0267924	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:714628002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204125	biolink:NamedThing			mondoexuq1wtf																														
DOID:7967	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839464	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127062003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10001130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:188248005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95766002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041696	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861211	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010034	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511137	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:74949007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:158769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186583003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832525	biolink:NamedThing			mondoexuq1wtf																														
DOID:193	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3988	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969665	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6043	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615269	biolink:NamedThing			mondoexuq1wtf																														
DOID:1731	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:734022008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036472	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206973	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0021670	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050771	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716456000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0032229	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855848	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156044	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265357	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603278	biolink:NamedThing			mondoexuq1wtf																														
DOID:11871	biolink:NamedThing			mondoexuq1wtf																														
DOID:9507	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81139004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611276	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4833	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060613	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197416005	biolink:NamedThing			mondoexuq1wtf																														
DOID:3805	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203372000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764944006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C127171	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267652006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836756	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537594	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201164001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17346000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:313246000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0410422	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611706	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1518879	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1414216	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5862	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403997008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192973005	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:879	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017204	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029696	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255055008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:82675004	biolink:NamedThing			mondoexuq1wtf																														
DOID:1360	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155318004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/168100	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079744	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:281210	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615191	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317428	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10049889	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236118006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608154	biolink:NamedThing			mondoexuq1wtf																														
DOID:11360	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324262	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363437005	biolink:NamedThing			mondoexuq1wtf																														
DOID:7902	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537125	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329228	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005687	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:162516	biolink:NamedThing			mondoexuq1wtf																														
DOID:5528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835039	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018386	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060088	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238630009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0175709	biolink:NamedThing			mondoexuq1wtf																														
DOID:910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2380	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154697	biolink:NamedThing			mondoexuq1wtf																														
DOID:9767	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95584	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64678009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN225933	biolink:NamedThing			mondoexuq1wtf																														
DOID:13378	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98634	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0392400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/137210	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153476	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614065	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86820	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041306	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011775	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234646005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751317	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060855	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300351	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538352	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190994004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:378007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:47673003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618404	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615837	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931734	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022658	biolink:NamedThing			mondoexuq1wtf																														
DOID:13731	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050606	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254095002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/102530	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:448372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:444707001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565147	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014927	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98771	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843852	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110568	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:270903007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227844	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111075	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537057	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535461	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C50552	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3256	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0235974	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349532	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154061	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567527	biolink:NamedThing			mondoexuq1wtf																														
DOID:2768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719574007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/268800	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266437002	biolink:NamedThing			mondoexuq1wtf																														
DOID:4062	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:197004007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029191	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1429	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1515	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162361	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267758003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536225	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1274795	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35196	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:210233007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200726000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205500005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155151002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090077	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN845004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46129005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842897	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535637	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4565	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564849	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69736	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/189500	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42778005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617635	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535424	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0856825	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567021	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868597	biolink:NamedThing			mondoexuq1wtf																														
DOID:3191	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334749	biolink:NamedThing			mondoexuq1wtf																														
DOID:5031	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195701009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C120394	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614402	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111533	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018209	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84586	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567182	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202723	biolink:NamedThing			mondoexuq1wtf																														
MESH:D003389	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128128003	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608264	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024419	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:697910001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:444077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609047	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:435387	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:858	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155806004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613038	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193120	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363466008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238772004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:56665009	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:772	biolink:NamedThing			mondoexuq1wtf																														
DOID:5848	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4071	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766757006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/132850	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617051	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101958	biolink:NamedThing			mondoexuq1wtf																														
DOID:12926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/252700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2243088	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:418168000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4445009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058617	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97330	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:109767003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618880	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280141	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614990	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:84194006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040249	biolink:NamedThing			mondoexuq1wtf																														
DOID:8924	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227822	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043705	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25784009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:269372002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970130	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0854859	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001744	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34529	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614842	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855733	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/208150	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724090001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079734	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62727008	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536079	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150897	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:458833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3494506	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:362991006	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060260	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070257	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226913	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C134952	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/201200	biolink:NamedThing			mondoexuq1wtf																														
DOID:1701	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85031	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:48142003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025160	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:71906005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D013364	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98733	biolink:NamedThing			mondoexuq1wtf																														
DOID:2367	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230729006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612304	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0920163	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C123174	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111683	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2037	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609943	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3685	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11164009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10043192	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188550	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714619	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266628008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62332007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6448	biolink:NamedThing			mondoexuq1wtf																														
DOID:3343	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717826009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:50455002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3887523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84473	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2591	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536198	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C90598	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C53553	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:276822007	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10000590	biolink:NamedThing			mondoexuq1wtf																														
DOID:10966	biolink:NamedThing			mondoexuq1wtf																														
DOID:10582	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851377	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0011603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1517115	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201591007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193224001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536611	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271695	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3416	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:81519008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254749001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65877006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239873007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719409004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86870	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536346	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180261	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020186	biolink:NamedThing			mondoexuq1wtf																														
DOID:13095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716665002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:271847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203742	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40283	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4089001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2260	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228221	biolink:NamedThing			mondoexuq1wtf																														
DOID:2754	biolink:NamedThing			mondoexuq1wtf																														
MESH:C548071	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4237	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93325	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033770	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190452007	biolink:NamedThing			mondoexuq1wtf																														
DOID:10934	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141145	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751313	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060036	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607475	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34847	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4015371	biolink:NamedThing			mondoexuq1wtf																														
DOID:14757	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206337	biolink:NamedThing			mondoexuq1wtf																														
DOID:4087	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0277351	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36197	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149670	biolink:NamedThing			mondoexuq1wtf																														
DOID:4263	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866727	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334627	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3326	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726707004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:195965009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726610000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0001625	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0156296	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050352	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035372	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717752005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001342	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:199310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268626	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936403	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866130	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:42643001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200581	biolink:NamedThing			mondoexuq1wtf																														
DOID:7613	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/225750	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:171886	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606220	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19604005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1475	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3830518	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018621	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535978	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207077	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4539968	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536721	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236633002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40205	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535814	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833797	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154926005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3554018	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600630	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:46252003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856251	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155189	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334302	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10050344	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155710009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7638	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1309	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263482	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:360423002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566759	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54576000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306990	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016586	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3597	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40174	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537052	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3839685	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857034	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:356	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617564	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:286988004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3427	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020512	biolink:NamedThing			mondoexuq1wtf																														
DOID:7635	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090066	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110124	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84798	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193762002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53808001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603165	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0018817	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:713516007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236655005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268335001	biolink:NamedThing			mondoexuq1wtf																														
DOID:12335	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566028	biolink:NamedThing			mondoexuq1wtf																														
DOID:10393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:95411002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128378	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111567	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702379005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1271398	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750784	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199291	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:276525	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110063	biolink:NamedThing			mondoexuq1wtf																														
DOID:5855	biolink:NamedThing			mondoexuq1wtf																														
DOID:4919	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931794	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265559	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237568003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0339537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN239812	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675236	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:294981	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333462	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:119	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:141061	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111437	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324648	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27216	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1850022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0423092	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293725	biolink:NamedThing			mondoexuq1wtf																														
MESH:D058502	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:303	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:88996004	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234490009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563466	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:405500008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:240105009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618808	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2970	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:402397006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194124001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27589	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:203036002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131832	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265472	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:77098009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206680	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35301	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310490	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99251	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191327000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194268005	biolink:NamedThing			mondoexuq1wtf																														
DOID:2634	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309463	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189802003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2722	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/303650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0276648	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/302600	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/157700	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855115	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1171349	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266101	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063143	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0268095	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55434001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020511	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/215550	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2764	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080301	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237922009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070079	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27379	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1841763	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722064003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/103420	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2122	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:55681005	biolink:NamedThing			mondoexuq1wtf																														
DOID:4617	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:766715000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98955	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9364	biolink:NamedThing			mondoexuq1wtf																														
DOID:813	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C124520	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931266	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613988	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2853006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:274946003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0347887	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566310	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0033838	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27393	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:233958001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931188	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237444	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:15228007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:93952	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618224	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3500	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563882	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/249660	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84703	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7688	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536904	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284289	biolink:NamedThing			mondoexuq1wtf																														
MESH:D015427	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0043346	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111245	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80327007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0020428	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0795974	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618624	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111528	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406810	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029089	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537798	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:53622003	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234500	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014607	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C129871	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:262785	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0272317	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:205585003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196998009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6194	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3789	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4655	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308013	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:329802	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99875	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110998	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723674005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0281479	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144650	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3661483	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:31825	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205811	biolink:NamedThing			mondoexuq1wtf																														
MESH:D000238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:181412	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51070004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363425008	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153406	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1496	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563853	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310778	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203342	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/234580	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10058805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309015	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060517	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115200	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607949	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/169600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:436166	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10011385	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192485008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30588004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024624	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7585	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:284332	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN242170	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:90652	biolink:NamedThing			mondoexuq1wtf																														
DOID:9261	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/186100	biolink:NamedThing			mondoexuq1wtf																														
DOID:10266	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2750450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254603004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193453003	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79240	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0275524	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5514	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205481	biolink:NamedThing			mondoexuq1wtf																														
MESH:D053578	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016888	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/115250	biolink:NamedThing			mondoexuq1wtf																														
DOID:12333	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162836	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5938	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858717	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180106	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565320	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194758001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193625005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C134941	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C95071	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0271694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1845810	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3840076	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335155	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154895	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154835002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6857	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:96188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717156002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237586	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254863004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535618	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1838630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226642	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002573	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748428	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764811001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111438	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014440	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3715156	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187074005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0264765	biolink:NamedThing			mondoexuq1wtf																														
DOID:3083	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842691	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931072	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C77952	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92218002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022667	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154744	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003972	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617054	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866373	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/306950	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336971	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163637	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726083008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608224	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1291230	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:356978	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2940	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C79805	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357074	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567165	biolink:NamedThing			mondoexuq1wtf																														
DOID:0090037	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:284524008	biolink:NamedThing			mondoexuq1wtf																														
DOID:11428	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10071719	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/136680	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85285	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205894	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614559	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600334	biolink:NamedThing			mondoexuq1wtf																														
DOID:3209	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254770007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:60979006	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020338	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27087	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:370514003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0334039	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835967	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1986	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C138173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1138	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060362	biolink:NamedThing			mondoexuq1wtf																														
DOID:4075	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150787	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730308	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538310	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/276822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:37246009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:79517001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238874008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010673	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536596	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/258860	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:525	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3390	biolink:NamedThing			mondoexuq1wtf																														
DOID:8058	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567125	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:255079005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:87211000119104	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336917	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842642	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1847572	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300852	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563324	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613601	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79381	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0855152	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152210	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3303004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4014812	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563436	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C118785	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8091	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004773	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238059005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8592	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4275062	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9080	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016472	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1843096	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699420006	biolink:NamedThing			mondoexuq1wtf																														
DOID:4541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846695	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0030500	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/110500	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150400	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247640	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99059	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1846707	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94127009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D056833	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0010308	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349656	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4402	biolink:NamedThing			mondoexuq1wtf																														
DOID:1287	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3592	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:482077	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610898	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604314	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3032	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111788	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C126738	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83330	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0730278	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1305147	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98765	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:4950009	biolink:NamedThing			mondoexuq1wtf																														
DOID:9868	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050637	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567206	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0041408	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306504	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853963	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35131	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1267087	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163918	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7547	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190773008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C7966	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8634009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190958003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012061	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3700	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310095	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035439	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:397012002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234576008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/145980	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1849450	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:195	biolink:NamedThing			mondoexuq1wtf																														
DOID:2789	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226819	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:127055007	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3342	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34899	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050845	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050096	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1853900	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4317339	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610313	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C98982	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251896	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3809309	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535565	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612274	biolink:NamedThing			mondoexuq1wtf																														
DOID:6331	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612319	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26768	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0266316	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564759	biolink:NamedThing			mondoexuq1wtf																														
DOID:14308	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001248	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080359	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77828	biolink:NamedThing			mondoexuq1wtf																														
DOID:9821	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10013003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0406778	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3451	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:496756	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27025	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230284004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN244571	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C74984	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4412	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618429	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567196	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290856	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202578	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070168	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566506	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4304591	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4767	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206572	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431903	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563247	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205975	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603806	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0265233	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:550	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10062941	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201979	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:64667001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6530	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110897	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4748984	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:36591000119102	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018273	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566433	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/188455	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810212	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10044688	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192420000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0729555	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065418	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C121747	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565902	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:83561009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335363	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN200748	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:447874	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2169	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110299	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:65617004	biolink:NamedThing			mondoexuq1wtf																														
DOID:5090	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238926009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3041	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/176620	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C125386	biolink:NamedThing			mondoexuq1wtf																														
DOID:3247	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111567006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:523	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1865864	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10012310	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:317476	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:439202	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:72174007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202719	biolink:NamedThing			mondoexuq1wtf																														
DOID:5982	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/152550	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858724	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301840	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:91434003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1833603	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4274992	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/254210	biolink:NamedThing			mondoexuq1wtf																														
DOID:7633	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0016399	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/619144	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:70470	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567068	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332833	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0149948	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266197009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716709002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN199640	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080568	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333975	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0034960	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:26147006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335415	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266567006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1336521	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:568005	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131647	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:398043	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4511958	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75468	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080478	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699267007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618477	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931219	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227739	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34964	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/235550	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/277600	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0079541	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203760	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6208	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3280646	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567474	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0345945	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615780	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0796083	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:85170	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155233009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34916	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564570	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6286	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535843	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080453	biolink:NamedThing			mondoexuq1wtf																														
DOID:5559	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700265	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540188	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:67824002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239926000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714739	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1290511	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1851848	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108977	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:234947003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3273942	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776908	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19620000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131437	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859069	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:722380003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563755	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1395317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617872	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614870	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:423712	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98153	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84776	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:11612004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154733004	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008582	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:196364007	biolink:NamedThing			mondoexuq1wtf																														
DOID:6869	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128351009	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535926	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029463	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:101075	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:289849	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94705007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029834	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1866656	biolink:NamedThing			mondoexuq1wtf																														
DOID:7541	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/144200	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86861	biolink:NamedThing			mondoexuq1wtf																														
DOID:5495	biolink:NamedThing			mondoexuq1wtf																														
DOID:1970	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4935	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1855731	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3282	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0752166	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2930948	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:263768	biolink:NamedThing			mondoexuq1wtf																														
MESH:D014125	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0282527	biolink:NamedThing			mondoexuq1wtf																														
MESH:C566408	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001766	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1863514	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340231	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:204381004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/604474	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726350006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764519007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:63446	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535934	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310614	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10028176	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78250005	biolink:NamedThing			mondoexuq1wtf																														
DOID:8036	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842422	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36521	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:308041	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:97566	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128707003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0022581	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C5193109	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256520	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:285657	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69084	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2936406	biolink:NamedThing			mondoexuq1wtf																														
DOID:3114	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C39644	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1836024	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C36102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92562	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4430	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153218	biolink:NamedThing			mondoexuq1wtf																														
MESH:C563873	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349632	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10042271	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0002965	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931063	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:12169001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0220690	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410801005	biolink:NamedThing			mondoexuq1wtf																														
DOID:1595	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613329	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538090	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564244	biolink:NamedThing			mondoexuq1wtf																														
DOID:4078	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93159009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3178806	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:61094002	biolink:NamedThing			mondoexuq1wtf																														
DOID:9499	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10056944	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535781	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2151	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:217635	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:248441000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036457	biolink:NamedThing			mondoexuq1wtf																														
DOID:10047	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008179	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564115	biolink:NamedThing			mondoexuq1wtf																														
DOID:8538	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222350	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:308120004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206343	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4365	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110463	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C27131	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:30731004	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567059	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111352	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5283	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1860991	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310716	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10022955	biolink:NamedThing			mondoexuq1wtf																														
DOID:7907	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:363172002	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238040008	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4364	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0025299	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969482	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:453533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0340127	biolink:NamedThing			mondoexuq1wtf																														
DOID:10074	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618745	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3219	biolink:NamedThing			mondoexuq1wtf																														
DOID:9884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:718576001	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538202	biolink:NamedThing			mondoexuq1wtf																														
DOID:3892	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3642328	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6246	biolink:NamedThing			mondoexuq1wtf																														
DOID:8826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2103110	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606721	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0349565	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1854630	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:69739	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8074002	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/269600	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536938	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236367002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306547	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3453	biolink:NamedThing			mondoexuq1wtf																														
DOID:3640	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:707671008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254955001	biolink:NamedThing			mondoexuq1wtf																														
DOID:1822	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:725462002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3828	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617537	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:231986000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012829	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519850	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535409	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840253	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:251019	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153491	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2676769	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4540484	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54767005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931826	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202523	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C75006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618443	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536657	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68092007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:720748007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:715630006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839173	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2437	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567227	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94068003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:19886006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/308700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:306692	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970162	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0040053	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:140949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0242788	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1321904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:198630007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0154839	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050177	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1868659	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080429	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207031	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1834120	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050148	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98022	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3662139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:768554008	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001168	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:83451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C43340	biolink:NamedThing			mondoexuq1wtf																														
DOID:6683	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C96804	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023241	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN201347	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98907	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:352312	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:440471007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334444	biolink:NamedThing			mondoexuq1wtf																														
DOID:530	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40319	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835894	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0343532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007787	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060780	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C103184	biolink:NamedThing			mondoexuq1wtf																														
MESH:D006317	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/253550	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562669	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717942003	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:68197003	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535993	biolink:NamedThing			mondoexuq1wtf																														
DOID:12215	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92664001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:154471006	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C92630	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10018404	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0346303	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536274	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:80727009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613612	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537394	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN204100	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:404059000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:29914000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254827004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238086005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4303949	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2713321	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537144	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191260004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:191848008	biolink:NamedThing			mondoexuq1wtf																														
DOID:10544	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1844777	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:17602002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:560	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193532005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334377	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:9250002	biolink:NamedThing			mondoexuq1wtf																														
MESH:C565122	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226984	biolink:NamedThing			mondoexuq1wtf																														
DOID:12105	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:156252	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/250215	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/256700	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:158568007	biolink:NamedThing			mondoexuq1wtf																														
MESH:C567275	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24225004	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:123809005	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564312	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4050407	biolink:NamedThing			mondoexuq1wtf																														
DOID:573	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536713	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614411	biolink:NamedThing			mondoexuq1wtf																														
DOID:1942	biolink:NamedThing			mondoexuq1wtf																														
DOID:2215	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060387	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:78511005	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603932	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0024904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92734000	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012832	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/310600	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6686	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C26969	biolink:NamedThing			mondoexuq1wtf																														
DOID:7488	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:261806	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/608904	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253068002	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C128441	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012553	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1842112	biolink:NamedThing			mondoexuq1wtf																														
DOID:9164	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837868	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763215008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617752	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001010	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C115207	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2700440	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536380	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:238575004	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:180250	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192492003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675497	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:268832	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:210548	biolink:NamedThing			mondoexuq1wtf																														
DOID:10533	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0742115	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4304	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613124	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6533	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/600117	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717184007	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:68347	biolink:NamedThing			mondoexuq1wtf																														
DOID:0070183	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:267426009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613636	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4479539	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016097	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:237946002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1155	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5498	biolink:NamedThing			mondoexuq1wtf																														
DOID:12164	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:724205009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969649	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332532	biolink:NamedThing			mondoexuq1wtf																														
MESH:D017237	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:717335009	biolink:NamedThing			mondoexuq1wtf																														
MESH:D005901	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C9285	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:200710001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3457	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/607829	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060455	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C8267	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0240903	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0280631	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:89773001	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111158	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1970199	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0741296	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564485	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34543	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:23511006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:156642003	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10070579	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:472948001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/184450	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194636006	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98988	biolink:NamedThing			mondoexuq1wtf																														
DOID:9280	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060189	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:35688	biolink:NamedThing			mondoexuq1wtf																														
MESH:D012005	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:186788009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/142946	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1260903	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126845000	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C172127	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155969007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN227185	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:403661001	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C2870	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618977	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:280914	biolink:NamedThing			mondoexuq1wtf																														
DOID:4769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266155003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2608081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324930	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0155862	biolink:NamedThing			mondoexuq1wtf																														
MESH:D020425	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/179830	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1306856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239869009	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:271949009	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10014985	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226712	biolink:NamedThing			mondoexuq1wtf																														
MESH:D016884	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:703310005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111102	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C112112	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0262565	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206984	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:213605	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:33	biolink:NamedThing			mondoexuq1wtf																														
DOID:4073	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:10649000	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/166000	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:679	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0162670	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067184	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536883	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:85721000119105	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332640	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/300578	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612278	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716245003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080440	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:8139000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:764940002	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216452	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10036172	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/162370	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1969656	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2379	biolink:NamedThing			mondoexuq1wtf																														
DOID:3119	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110510	biolink:NamedThing			mondoexuq1wtf																														
DOID:0110578	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060398	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060438	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4460	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206787	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:51053007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1332355	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189665000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192781003	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111197	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:266153005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111513	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4310647	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006285	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/187350	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:319328	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:57334003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1415596	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254678009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776838	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3222	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716865000	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538254	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225327	biolink:NamedThing			mondoexuq1wtf																														
MESH:C562399	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060074	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:464321	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616414	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/257960	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203384	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:92408009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C99013	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:125236003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1840451	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6253	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080556	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN203567	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0028756	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:22361007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111115	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:295024	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25188002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN206172	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150879	biolink:NamedThing			mondoexuq1wtf																														
DOID:4795	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/181300	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:480536	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0153554	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723820001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3150681	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:179490	biolink:NamedThing			mondoexuq1wtf																														
DOID:10139	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1125	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C3856	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:706885006	biolink:NamedThing			mondoexuq1wtf																														
DOID:9473	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:230424000	biolink:NamedThing			mondoexuq1wtf																														
DOID:4929	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:763403007	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:25898005	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060064	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:389992006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:3218000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0553694	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2675650	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2135	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612838	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10063146	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/medgen/508459	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:565782	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C131740	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:98611	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/130710	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018182	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/266250	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3230	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:111397004	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN776841	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6602	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:24988007	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080356	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189845005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4225307	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:66625	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10024603	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:254519	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:357131	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C4469	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN205654	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:702423009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613703	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/178995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613769	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:254096001	biolink:NamedThing			mondoexuq1wtf																														
MESH:D011004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/609629	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278876	biolink:NamedThing			mondoexuq1wtf																														
DOID:14545	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:443159	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:187046000	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:268051001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/606675	biolink:NamedThing			mondoexuq1wtf																														
DOID:2512	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111232	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:309147	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/183802	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:232059000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0031039	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:293910	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857933	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:189749008	biolink:NamedThing			mondoexuq1wtf																														
DOID:1923	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:183533	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1000	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0027269	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007710	biolink:NamedThing			mondoexuq1wtf																														
DOID:12400	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:201506009	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616812	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0035012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1858726	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0029777	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2677337	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0004238	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:194183009	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751038	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/260660	biolink:NamedThing			mondoexuq1wtf																														
DOID:3331	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:208999	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/617370	biolink:NamedThing			mondoexuq1wtf																														
DOID:8936	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85063	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1859726	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/301845	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0206637	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1519936	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:62009002	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837316	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1335751	biolink:NamedThing			mondoexuq1wtf																														
DOID:3590	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/610829	biolink:NamedThing			mondoexuq1wtf																														
MESH:C535534	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C35406	biolink:NamedThing			mondoexuq1wtf																														
MESH:D010235	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536432	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0751036	biolink:NamedThing			mondoexuq1wtf																														
DOID:10790	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0008127	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN202425	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0270742	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:79482	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0474442	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1403891	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:324422	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839455	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:723452007	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611634	biolink:NamedThing			mondoexuq1wtf																														
MESH:D004488	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6358	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34910	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:65798	biolink:NamedThing			mondoexuq1wtf																														
DOID:9396	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/603622	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3179489	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/222900	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6261	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:726031001	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3452	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1266018	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1862682	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0555202	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:77240	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/309480	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C85238	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:225696	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:163937	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614098	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:193177003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D002972	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536816	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018212	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615009	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40086	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:394529000	biolink:NamedThing			mondoexuq1wtf																														
DOID:9754	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1835492	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239028001	biolink:NamedThing			mondoexuq1wtf																														
DOID:277	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C84531	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0342700	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:206638	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0007871	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/611228	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538196	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060453	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0278719	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3277286	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:239066003	biolink:NamedThing			mondoexuq1wtf																														
MESH:D001404	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:190584003	biolink:NamedThing			mondoexuq1wtf																														
DOID:12386	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931544	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060537	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0036114	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C40061	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0431694	biolink:NamedThing			mondoexuq1wtf																														
DOID:1061	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/601214	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:209047	biolink:NamedThing			mondoexuq1wtf																														
DOID:139	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:699297004	biolink:NamedThing			mondoexuq1wtf																														
DOID:13461	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN237612	biolink:NamedThing			mondoexuq1wtf																														
DOID:627	biolink:NamedThing			mondoexuq1wtf																														
DOID:0111769	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:228012	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333099	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3810001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:410430005	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0006818	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1621958	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0019556	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:716724006	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/613100	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:330064	biolink:NamedThing			mondoexuq1wtf																														
MESH:C564206	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:124513002	biolink:NamedThing			mondoexuq1wtf																														
DOID:6161	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C5600	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1032	biolink:NamedThing			mondoexuq1wtf																														
DOID:4535	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0338986	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0026640	biolink:NamedThing			mondoexuq1wtf																														
DOID:9929	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/245800	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C3714630	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN207078	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1302995	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/612015	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839882	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0003492	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618982	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152102	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615978	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:94129007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238519	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:415111003	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2931666	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1857617	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C116936	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1333137	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10067608	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1864987	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0432313	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/104510	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:236535001	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1848600	biolink:NamedThing			mondoexuq1wtf																														
MESH:D018224	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:311366001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/163200	biolink:NamedThing			mondoexuq1wtf																														
MESH:C536614	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2751314	biolink:NamedThing			mondoexuq1wtf																														
DOID:0060197	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C81315	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:3228	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614558	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:108973	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:86919	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:216828	biolink:NamedThing			mondoexuq1wtf																														
DOID:5767	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:54008006	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN226902	biolink:NamedThing			mondoexuq1wtf																														
UMLS:CN036949	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:2355008	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:128904001	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:155883005	biolink:NamedThing			mondoexuq1wtf																														
MESH:D007411	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/614921	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1334609	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:93461009	biolink:NamedThing			mondoexuq1wtf																														
DOID:0050753	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:116020001	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615344	biolink:NamedThing			mondoexuq1wtf																														
MESH:C537056	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1839021	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616211	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/193230	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C6957	biolink:NamedThing			mondoexuq1wtf																														
DOID:2256	biolink:NamedThing			mondoexuq1wtf																														
DOID:14753	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C4017171	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C2752008	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/616329	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:253067007	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0085209	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1861101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/247990	biolink:NamedThing			mondoexuq1wtf																														
MESH:C538253	biolink:NamedThing			mondoexuq1wtf																														
DOID:3183	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0152243	biolink:NamedThing			mondoexuq1wtf																														
MEDDRA:10065551	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0238239	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080037	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1856895	biolink:NamedThing			mondoexuq1wtf																														
DOID:8465	biolink:NamedThing			mondoexuq1wtf																														
NCIT:C34587	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1832352	biolink:NamedThing			mondoexuq1wtf																														
DOID:9254	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:247365004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/182882	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:1199	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:719201004	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/615432	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:126877002	biolink:NamedThing			mondoexuq1wtf																														
DOID:3081	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:99903	biolink:NamedThing			mondoexuq1wtf																														
ORPHA:2101	biolink:NamedThing			mondoexuq1wtf																														
http://identifiers.org/omim/618108	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C1837481	biolink:NamedThing			mondoexuq1wtf																														
MESH:D008882	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:43336006	biolink:NamedThing			mondoexuq1wtf																														
SNOMEDCT:192445002	biolink:NamedThing			mondoexuq1wtf																														
DOID:0080293	biolink:NamedThing			mondoexuq1wtf																														
UMLS:C0023092	biolink:NamedThing			mondoexuq1wtf